-- Data for Name: file_note; Type: TABLE DATA; Schema: cpic; Owner: -
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ALLELE_DEFINITION	CYP3A5	The variants included are based on the PharmVar core alleles (for core alleles only see https://www.pharmvar.org/gene/CYP3a5).	0	1
ALLELE_DEFINITION	CYP3A5	See PharmVar website (http://www.pharmvar.org) for comprehensive haplotype definitions of CYP3A5 variant alleles, including sub-alleles, and updated allele information.	1	1
ALLELE_DEFINITION	CYP3A5	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	2	1
ALLELE_FUNCTION_REFERENCE	NAT2	The NAT gene nomenclature committee has curated, annotated, and assigned function to NAT2 star alleles since 1997. In March 2024, NAT2 nomenclature was transferred to PharmVar with some major changes. Most notably, the creation of NAT2*1 as the reference allele in accordance with the reference genome GRCh38. NAT2*4, the former reference allele, is defined by the presence of the SNV c.803G>A. Historically, acetylation function was assigned to NAT2 * alleles as either "rapid" or "slow". Under the CPIC allele function terminology, rapid acetylation alleles are categorized as "Increased Function" and slow acetylation alleles are categorized as "Decreased Function". More information can be found at the NAT gene nomenclature committee website, including legacy allele nomenclature and functional assignments (see links below). Additionally, see the PharmVar NAT2 Read Me document (link below)	0	1
ALLELE_FUNCTION_REFERENCE	NAT2	NAT Gene Nomenclature Committee Homepage, https://nat.mbg.duth.gr/Homepage.htm	1	1
ALLELE_FUNCTION_REFERENCE	NAT2	Legacy NAT2 allele nomenclature and functional assignments, https://nat.mbg.duth.gr/Human_NAT2_alleles.htm	2	1
ALLELE_FUNCTION_REFERENCE	NAT2	PharmVar NAT2 Read Me, https://a.storyblok.com/f/70677/x/047a3728ff/gene-info_nat2_v1-2.pdf.	3	1
GENE_CDS	SLCO1B1	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	SLCO1B1	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	SLCO1B1	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	SLCO1B1	For full references see "References" tab.	0	1
FREQUENCY	SLCO1B1	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	SLCO1B1	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
FREQUENCY	SLCO1B1	See allele definition table (https://www.pharmgkb.org/page/slco1b1RefMaterials) for allele definitions	3	1
FREQUENCY	SLCO1B1	Because SLCO1B1*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a SLCO1B!*1 assignment. The inferred frequency for SLCO1B1*1 is calculated as: 1 - (sum of averaged variant allele frequencies).	4	1
TEST_ALERT	RxNorm:3920	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:3920	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:32937	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:32937	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:519	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:519	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:4492	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:4492	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:6918	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:6918	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:NA	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:NA	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:10689	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10689	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	CYP3A5	All variants are annotated to the positive DNA strand.	3	1
ALLELE_DEFINITION	CYP3A5	An important caveat for all genotyping tests is that the decision to assign an allele a "wild- type" status is based upon a genotyping test that interrogates only the most common and already-proven sites of functional variation. In human DNA, it is always possible that a new, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of- function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as "wild-type"	4	1
ALLELE_DEFINITION	CYP3A5	Citations for assignment of function can be found at https://www.pharmgkb.org/page/cyp3a5RefMaterials	5	1
ALLELE_DEFINITION	CYP3A5	Content is accessed through the PharmVar API. HGVS and 'PharmVar-style' (accessible on the PharmVar website) positions may differ for indels in some instances which is most likely explained by differences in sequence alignments. Also, PharmVar displays single nucleotide insertions as 'ins' while the HGVS display is as duplications or 'dub' if the insertion is the same base as the prior base.	6	1
ALLELE_FUNCTION_REFERENCE	RYR1	Variant selection based on an update of the CPIC guideline for potent volatile anesthetic agents and succinylcholine. The guideline update includes the published list of RYR1 variants (supplemental Table S2), which are evaluated by the ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel (VCEP) and classified for RYR1-related malignant hyperthermia susceptibility based on specified ACMG/AMP criteria (PMID 35849058). The entries in the column 'Allele Functional Status (Optional)' are from the 'Pathogenicity' column and the entries in the column 'Findings (Optional)' are from the ACMG/AMP Criteria column in Table S2 (PMID 35849058).	0	1
ALLELE_FUNCTION_REFERENCE	RYR1	Variants 1209C>G, 7522C>G, 14387A>G, 14693T>C are not included in the PMID 35849058 and are classified as VUS by the RYR1 VCEP in May 2023.	1	1
ALLELE_FUNCTION_REFERENCE	RYR1	Variant classification was re-evaluated and updated by the RYR1 VCEP in May 2023 for the following variants: c.488G>T, c.1589G>A, c.7522C>T, c.14210G>A, c.14582G>A, c.6612C>G, c.14918C>T, c.5183C>T, c.5132A>G, c.6838G>A	2	1
ALLELE_FUNCTION_REFERENCE	RYR1	Variant classification was re-evaluated and updated by the RYR1 VCEP in Nov 2023 for the following variants: c.6488G>T, c.14627A>G, c.14813T>C	3	1
ALLELE_FUNCTION_REFERENCE	RYR1	Allele Clinical Functional Status is mapped to the classification by the ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel PMID: 35849058 as follows:	4	1
ALLELE_FUNCTION_REFERENCE	RYR1	Pathogenic = Malignant Hyperthermia associated	5	1
ALLELE_FUNCTION_REFERENCE	RYR1	Likely Pathogenic = Malignant Hyperthermia associated	6	1
ALLELE_FUNCTION_REFERENCE	RYR1	Variant of uncertain significance = Uncertain function	7	1
ALLELE_FUNCTION_REFERENCE	RYR1	Likely Benign = Normal function	8	1
ALLELE_FUNCTION_REFERENCE	RYR1	Benign = Normal function	9	1
ALLELE_FUNCTION_REFERENCE	RYR1	"Reference" is included in the CPIC RYR1 allele definition table. Allele Clinical Functional Status is assigned Normal function.	10	1
GENE_CDS	TPMT	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	TPMT	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	TPMT	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	TPMT	For full references see "References" tab.	0	1
FREQUENCY	TPMT	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	TPMT	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
FREQUENCY	TPMT	See the Allele Definition Tables at https://www.pharmgkb.org/page/tpmtRefMaterials for allele definitions	3	1
FREQUENCY	TPMT	Because TPMT*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a TPMT*1 assignment. The inferred frequency for TPMT*1 is calculated as: 1 - (sum of averaged variant allele frequencies).	4	1
TEST_ALERT	RxNorm:321988	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:321988	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:8183	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:8183	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
TEST_ALERT	RxNorm:641	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:641	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:4502	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:4502	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
TEST_ALERT	RxNorm:7240	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7240	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:7240	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:7240	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:10109	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10109	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:27392	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:27392	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	CYP4F2	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	CYP4F2	All variants are annotated to the positive DNA strand.	1	1
ALLELE_DEFINITION	CYP4F2	See PharmVar website (http://pharmvar.org) for comprehensive haplotype definitions of CYP4F2 variant alleles and updated allele information.	2	1
ALLELE_DEFINITION	CYP4F2	An important caveat for all genotyping tests is that the decision to assign an allele a "wild-type" status is based upon a genotyping test that interrogates only the most common and already-proven sites of functional variation. In human DNA, it is always possible that a new, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as "wild-type."	3	1
GENE_CDS	ABCG2	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	ABCG2	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	ABCG2	The specific wording of the interpretive text may differ among sites.	2	1
GENE_CDS	UGT1A1	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	UGT1A1	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	UGT1A1	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	UGT1A1	For full references see "References" tab.	0	1
FREQUENCY	UGT1A1	Average frequencies are based on the actual number of subjects with each allele as reported in one or multiple studies.	1	1
FREQUENCY	UGT1A1	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
FREQUENCY	UGT1A1	See allele definition table (https://www.pharmgkb.org/page/ugt1a1RefMaterials) for allele definitions	3	1
FREQUENCY	UGT1A1	Because UGT1A1*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a UGT1A1*1 assignment. The inferred frequency for UGT1A1*1 is calculated as: 1 - (sum of averaged variant allele frequencies).	4	1
TEST_ALERT	RxNorm:41127	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:41127	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:8356	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:8356	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
TEST_ALERT	RxNorm:7833	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7833	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:7833	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:7833	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:4601	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:4601	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:4601	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:4601	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:7299	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7299	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:10171	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10171	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:10171	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:10171	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:39786	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:39786	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	DPYD	Variant selection is based on the CPIC guideline for Fluoropyrimidines and DPYD (https://cpicpgx.org/guidelines/guideline-for-fluoropyrimidines-and-dpyd/) and sourced from PharmVar (https://www.pharmvar.org/gene/DPYD).	0	1
ALLELE_DEFINITION	DPYD	All variants are annotated to the positive DNA strand.	1	1
ALLELE_DEFINITION	DPYD	As an individual only carries a maximum of two fully functional DPYD copies, common normal function variants may be located on the same gene copy as other normal	2	1
ALLELE_DEFINITION	DPYD	c.1129-5923C>G is likely the HapB3 haplotype causal variant. c.1236G>A (E412E) is a proxy SNP for HapB3.	3	1
ALLELE_DEFINITION	DPYD	Individual patients have been reported (PMID 38129972) to carry only one of the two SNPs in the HapB3 haplotype (i.e., c.1236G>A without c.1129-5923C>G), suggesting that the two variants are not in complete linkage disequilibrium. CPIC updated the allele definition to include the c.1129-5923C>G SNP separately as this is likely the causal variant leading to decreased function. CPIC also retained the HapB3 haplotype definition for cases where only the c.1236G>A variant is tested (e.g. whole exome sequencing). While CPIC recommends to directly test the causal SNP if possible, in cases where only c.1236G>A is tested or results are available for, it should be clearly stated in the test report that "decreased function" was inferred by detecting the exonic tag SNP, and disclose that in rare cases, the causal decreased function variant c.1129-5923C>G may not be present despite having this tag SNP.	4	1
ALLELE_DEFINITION	DPYD	c.680+139G>A is not exclusive to HapB3 and therefore not a suitable proxy.	5	1
ALLELE_DEFINITION	DPYD	rsID rs3918290, when combined with rs1801159, makes up DPYD*2B	6	1
ALLELE_DEFINITION	DPYD	rs56293913, rs3790387, rs2811202 are all part of a common haplotype that also encompasses c.496A>G (M166V).	7	1
ALLELE_DEFINITION	DPYD	The rs115632870 variant was found to be in linkage disequilibrium (D'=1) with the decreased function variant rs115232898 (Y186C); the decreased function associated with this variant is likely due to this linkage.	8	1
ALLELE_DEFINITION	DPYD	Content is accessed through the PharmVar API. HGVS and 'PharmVar-style' (accessible on the PharmVar website) positions may differ for indels in some instances which is most likely explained by differences in sequence alignments. Also, PharmVar displays single nucleotide insertions as 'ins' while the HGVS display is as duplications or 'dub' if the insertion is the same base as the prior base.	9	1
GENE_CDS	CACNA1S	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	CACNA1S	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	CACNA1S	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	CACNA1S	For full references see "References" tab.	0	1
FREQUENCY	VKORC1	For full references see "References" tab.	0	1
FREQUENCY	VKORC1	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	VKORC1	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
TEST_ALERT	RxNorm:42355	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:42355	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:861634	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:861634	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:1191	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:1191	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:1191	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:1191	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	ATC:D06AX07	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	ATC:D06AX07	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:7337	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7337	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:10178	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10178	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:10178	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:10178	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:1151	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:1151	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:1151	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:1151	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
ALLELE_DEFINITION	G6PD	This modified table of G6PD variants is from PMID:22293322, https://grenada.lumc.nl/LOVD2/MR/home.php?select_db=G6PD, with several additional variants.	0	1
ALLELE_DEFINITION	G6PD	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	1	1
ALLELE_DEFINITION	G6PD	All variants are annotated to the positive DNA strand.	2	1
ALLELE_DEFINITION	G6PD	Please note; WHO class as reported in PMID:22293322 and Luzzatto, L. & Poggi, V. Glucose-6-Phosphate Dehydrogenase Deficiency In: Nathan and Oski's Hematology of Infancy and Childhood, 7th Edition (ed. Meloni, D., Anderson, A. Authors of the book: Orkin, S.H., Fisher, D.E., Look, A.T., Lux IV, S.E., Ginsburg, D., Nathan, D.G. ) (Saunders, Elsevier., 2009) or individual references. This class may have been assigned based on just clinical\nmanifestations and not enzyme activity level or characterization of the enzyme variant.	3	1
ALLELE_DEFINITION	G6PD	Likely phenotype as referenced in this guideline, based on converting assigned WHO class to 3 phenotypes. "Normal" defined as very mild or no enzyme deficiency (>60% normal enzyme levels); "Deficient" defined as mild to severely deficient (<10-60% normal) enzyme levels; "Deficient with CNSHA" defined as severe G6PD enzyme deficiency (<10% activity) with chronic non-spherocytic hemolytic anemia based on Luzzatto, L. & Poggi, V. Glucose-6-Phosphate Dehydrogenase Deficiency In: Nathan and Oski's Hematology of Infancy and Childhood, 7th Edition (ed. Meloni, D., Anderson, A. Authors of the book: Orkin, S.H., Fisher, D.E., Look, A.T., Lux IV, S.E., Ginsburg, D., Nathan, D.G. ) (Saunders, Elsevier., 2009).	4	1
GENE_CDS	CYP2B6	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	CYP2B6	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	CYP2B6	The specific wording of the interpretive text may differ among sites.	2	1
GENE_CDS	CYP2B6	Although two CYP2B6 alleles, *4 and *22, are categorized as increased function alleles, the effect of *4 and *22 on CYP2B6 function with respect to efavirenz plasma exposure appears to be modest based on current evidence. However, the phenotype categories of CYP2B6 rapid metabolizer (RM; one normal function allele and one increased function allele) and CYP2B6 ultra-rapid metabolizer (UM; two increased function alleles) were created to allow for the possibility that these may be clinically relevant for CYP2B6 substrates other than efavirenz. As there is no recommendation for altering dosing for CYP2B6 RMs or UMs for efavirenz, the EHR priority is sent to "normal" for these metabolizers.	3	1
FREQUENCY	CYP2B6	For full references see "references" tab.	0	1
FREQUENCY	CYP2B6	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	CYP2B6	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
FREQUENCY	CYP2B6	See allele definition table (https://www.pharmgkb.org/page/cyp2b6RefMaterials) for allele definitions	3	1
FREQUENCY	CYP2B6	Because CYP2B6*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a CYP2B6*1 assignment. The inferred frequency for CYP2B6*1 is calculated as: 1 - (sum of averaged variant allele frequencies).	4	1
TEST_ALERT	RxNorm:704	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:704	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:72236	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:72236	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
TEST_ALERT	RxNorm:42463	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:42463	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:38400	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:38400	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:38400	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:38400	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:4815	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:4815	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:4815	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:4815	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:7454	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7454	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:10831	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10831	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:10831	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:10831	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:11258	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:11258	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:11258	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:11258	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
ALLELE_DEFINITION	IFNL3	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	IFNL3	All variants are annotated to the positive DNA strand.	1	1
GENE_CDS	CYP2C19	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	CYP2C19	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	CYP2C19	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	CYP2C9	For full references see "References" tab.	0	1
FREQUENCY	CYP2C9	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	CYP2C9	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
FREQUENCY	CYP2C9	See allele definition table (https://www.pharmgkb.org/page/cyp2c9RefMaterials) for allele definitions	3	1
FREQUENCY	CYP2C9	Because CYP2C9*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a CYP2C9*1 assignment. The inferred frequency for CYP2C9*1 is calculated as: 1 - (sum of averaged variant allele frequencies).	4	1
TEST_ALERT	RxNorm:343047	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:343047	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:5095	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:5095	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:301542	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:301542	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:1256	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:1256	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:5470	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:5470	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:7517	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7517	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:7517	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:7517	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:10184	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10184	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:10184	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:10184	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:1455099	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:1455099	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	MT-RNR1	Variant selection based on the CPIC guideline for aminoglycoside antibiotics and MT-RNR1.	0	1
GENE_CDS	CYP2C9	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites. Assignment of all Genotype/Phenotype Summaries based on diplotype is available on the 'Possible CYP2C19' Diplotype tab.	0	1
GENE_CDS	CYP2C9	A priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	CYP2C9	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	CYP2D6	In the Sub-Saharan African group, presented data for Twesigomwe et al., 2022 PMID 36111505 is a combination of frequencies from PMID 36111505 and Wang et al. 2022 PMID 36294714. See the Methods and Caveats tab for how *1 frequencies are determined for this file.	0	1
TEST_ALERT	RxNorm:83367	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:83367	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:5691	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:5691	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:36437	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:36437	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:194000	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:194000	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:5489	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:5489	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:7623	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7623	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:7623	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:7623	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:9524	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:9524	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:9524	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:9524	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
DIPLOTYPE_PHENOTYPE	RYR1	The CPIC guideline includes RYR1 variants assigned a Allele Clinical Functional Status of Normal function, Uncertain function, and Malignant Hyperthermia associated (see the "RYR1_allele_functionality_reference" file). A translation of Allele Function combinations to Phenotype is available in the "RYR1_phenotypes" file. It might be possible that a subject could have more than 2 RYR1 variants and this RYR1_Diplotype_Phenotype_Table is a representation of possible RYR1 genotypes considering the two functionally most impacted RYR1 variants.	0	1
ALLELE_DEFINITION	NAT2	rsID = RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	NAT2	All variants are annotated to the positive DNA strand.	1	1
ALLELE_DEFINITION	NAT2	Structural variants are represented using the PharmVar ID.	2	1
ALLELE_DEFINITION	NAT2	See PharmVar website (http://www.pharmvar.org) for comprehensive haplotype definitions of NAT2 variant alleles and updated allele information.	3	1
ALLELE_DEFINITION	NAT2	An important caveat for all genotyping tests is that the decision to assign an allele a "wild-type" status is based upon a genotyping test that interrogates only the most common and already-proven sites of functional variation. In human DNA, it is always possible that a new, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as "wild-type."	4	1
ALLELE_DEFINITION	NAT2	Some drastic changes have been made to NAT2 nomenclature during transition from the original (Database of Arylamine N-Acetyltransferases (NATs)) to the new (https://www.pharmvar.org/gene/NAT2) "star" allele definitions:	5	1
ALLELE_DEFINITION	NAT2	The NAT2 reference allele has now changed: The NG_012246.1 RefSeq differs from X14672.1 (which was used in the past to define star alleles) at the position that corresponds to c.803 (rs1208), where X14672.1 has "A" while NG_012246.1 has "G". Thus, depending on which reference sequence is utilized, this position is reported as either reference or variant. The transition of allele definitions to the NG_012246.1 RefSeq caused "variant switching", meaning that all star alleles which were previously described as having c.803A>G lost this variant, as "G" is now considered reference, while all other star alleles gained c.803G>A, as "A" is now considered variant.	6	1
ALLELE_DEFINITION	NAT2	The new reference allele is now catalogued as NAT2*1: The sequence of NG_012246.1 RefSeq corresponds to the allele that was formerly described as NAT2*12A. Its renaming as NAT2*1.001 facilitates the application of PharmVar rules to NAT2 allelic nomenclature, while it also enables the use of NAT2*1 name to describe the reference allele, in line with the star allele nomenclature of other pharmacogenes. To avoid confusion during the transition from the legacy to the new nomenclature, *12 is now retired. Having a NAT2*1 allele grouping in place also facilitates NGS analyses using GRCh38 as a reference.	7	1
ALLELE_DEFINITION	NAT2	NAT2*4 is no longer considered as the reference allele: Alleles carrying c.803G>A as their only amino acid changing SNV will be called as *4 according to the new nomenclature. This includes the former NAT2*4 reference allele of sequence X14672.1, now considered a variant and listed as NAT2*4.001. Although this will no longer be used as a reference, it is considered to be functionally equivalent to NAT2*1.001 (formerly NAT2*12A) and may still be used to compare the enzymatic or structural properties of polymorphic NAT2 proteins.	8	1
ALLELE_DEFINITION	NAT2	Not all previously defined star alleles have been transferred: In the past, it has not always been clear how a NAT2 haplotype was determined. Many have been inferred via computational phase analysis and were not verified experimentally. In the case of haplotypes where the available evidence from the literature was deemed insufficient to support confident allele definition, those haplotypes were not transferred to PharmVar, but they will remain posted on the original Database of Arylamine N-Acetyltransferases (NATs).	9	1
ALLELE_DEFINITION	NAT2	This file contains the PharmVar NAT2 core allele definitions.	10	1
ALLELE_DEFINITION	NAT2	Alleles with content annotated in PharmGKB but not included in PharmVar (*5G, *5J, *5M, *5U, *6J, *7G, *17) are added using the the original Database of Arylamine N-Acetyltransferases (NATs, http://nat.mbg.duth.gr/Human%20NAT2%20alleles_2013.htm) definitions. This results in the inclusion of 2 synonymous SNPs (added in grey). PharmVar NAT2 core alleles do not include these SNPs although those are part of many NAT2 suballeles and the cells in the core alleles are therefore left blank in this file (see PharmVar for all transitioned NAT2 suballeles and about what is included in a core allele definition). Additionally, with transitioning to PharmVar, the change at p.268 is now according to the reference sequence R268K (see above information). Therefore, original definitions that include K268R will have a blank cell, while alleles that did not include the SNP will now have an "A" at this position.\nPositions added: \n226T>G part of *7G\n434A>C part of *17\n282C>T and 481C>T synonymous SNPs\n*5G has K268R - 803G =ref at this position, therefore blank\n*5J has 803A \n*5M has K268R - 803G =ref at this position, therefore blank\n*5U has K268R - 803G =ref at this position, therefore blank\n*6J has 803A \n*7G has 803A \n*17 has 803A	11	1
GENE_CDS	CYP3A5	The coded diplotype/phenotype summary is used to store an interpretation of the test result. This is a design decision that may differ among sites. Assignment of all Genotype/Phenotype Summaries based on diplotype is available on the 'Possible CYP2C19' Diplotype tab.	0	1
GENE_CDS	CYP3A5	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	CYP3A5	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	CYP3A5	For full references see "References" tab.	0	1
FREQUENCY	CYP3A5	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	CYP3A5	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
FREQUENCY	CYP3A5	See the Allele Definition Table at http://www.pharmgkb.org/cyp3a5RefMaterials for allele definitions	3	1
FREQUENCY	CYP3A5	Because CYP3A5*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a CYP3A5*1 assignment. The inferred frequency for CYP3A5*1 is calculated as: 1 - (sum of averaged variant allele frequencies).	4	1
TEST_ALERT	RxNorm:2002	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:2002	"Clinical Pharmacist" could be a pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
TEST_ALERT	RxNorm:6026	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:6026	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:36453	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:36453	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:140587	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:140587	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
ALLELE_DEFINITION	NUDT15	PharmVAR releases new alleles based on received submissions, see https://www.pharmvar.org/gene/NUDT15 for comprehensive haplotype definitions of NUDT15 variant alleles, including sub-alleles, and updated allele information.	0	1
ALLELE_DEFINITION	NUDT15	The variants included in the alleles are based on the PharmVar core alleles (for core allele definitions only, see https://www.pharmvar.org/gene/NUDT15). In addition, variants that present in the core allele for one star allele but also present in some but not all suballeles of another star allele are included in the other star allele as ambiguous changes, e.g. the *3 consensus allele includes a "GAGTCG(3) or GAGTCG(4)" at the position 55_56insGAGTCG since this variant defines the *6 core allele but is not part of the *3 core allele definition in PharmVar since it is not present in all *3 suballeles. These postions are represented in grey (G) in the Comparative Allele ViewEr (CAVE) tool at PharmVar.	1	1
ALLELE_DEFINITION	NUDT15	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	2	1
ALLELE_DEFINITION	NUDT15	All variants are annotated to the positive DNA strand.	3	1
ALLELE_DEFINITION	NUDT15	rs554405994 was merged into rs869320766 which was merged into rs746071566	4	1
ALLELE_DEFINITION	NUDT15	Content is accessed through the PharmVar API. HGVS and 'PharmVar-style' (accessible on the PharmVar website) positions may differ for indels in some instances which is most likely explained by differences in sequence alignments. Also, PharmVar displays single nucleotide insertions as 'ins' while the HGVS display is as duplications or 'dub' if the insertion is the same base as the prior base.	5	1
GENE_CDS	DPYD	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	DPYD	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	DPYD	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	CYP4F2	For full references see "references" tab.	0	1
FREQUENCY	CYP4F2	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	CYP4F2	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
FREQUENCY	CYP4F2	See allele definition table (https://www.pharmgkb.org/page/cyp4f2RefMaterials) for allele definitions	3	1
FREQUENCY	CYP4F2	Because CYP4F2*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a CYP4F2*1 assignment. The inferred frequency for CYP4F2*1 is calculated as: 1 - (sum of averaged variant allele frequencies).	4	1
TEST_ALERT	RxNorm:2556	The specific wording of the alert text may differ among sites.	0	1
ALLELE_DEFINITION	CACNA1S	Variant selection based on the CPIC guideline for potent volatile anesthetic agents and succinylcholine and RYR1 and CACNA1S.	0	1
TEST_ALERT	RxNorm:2556	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:17128	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:17128	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:17128	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:17128	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:36567	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:36567	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:2348	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:2348	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:2348	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:2348	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:5521	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:5521	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:5521	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:5521	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:7934	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7934	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:10207	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10207	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:10207	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:10207	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
ALLELE_DEFINITION	RYR1	Variant selection based on an update of the CPIC guideline for potent volatile anesthetic agents and succinylcholine. The guideline update includes the published list of RYR1 variants (supplemental table S2), which are evaluated by the ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel and classified for RYR1-related malignant hyperthermia susceptibility based on specified the ACMG/AMP criteria (PMID 35849058).	0	1
ALLELE_DEFINITION	RYR1	The deletion of an E can be represented as E2347del orE2348del (c.7039_7041delGAG or c.7042_7044delGAG, respectivly). c.7042_7044delGAG is used to name the variant in the file to reflect the ClinGen naming, however the mapping of the variant is done according to the corresponding rsID rs121918596.	1	1
GENE_CDS	G6PD	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	0	1
GENE_CDS	G6PD	The specific wording of the interpretive text may differ among sites.	1	1
FREQUENCY	DPYD	Both variants in c.1129-5923C>G, c.1236G>A (HapB3) are listed with identical frequencies in 1000 Genomes	0	1
FREQUENCY	DPYD	For full references see "References" tab.	1	1
FREQUENCY	DPYD	Average frequencies based on the reported frequencies in one or multiple studies.	2	1
FREQUENCY	DPYD	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	3	1
FREQUENCY	DPYD	See allele definition table (https://www.pharmgkb.org/page/dpydRefMaterials) for allele definitions	4	1
TEST_ALERT	RxNorm:2597	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:2597	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:6472	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:6472	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:10154	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10154	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	CFTR	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	CFTR	All variants are annotated to the positive chromosomal strand.	1	1
ALLELE_DEFINITION	CFTR	Class is defined in PMID: 20932301.	2	1
ALLELE_DEFINITION	CFTR	Table includes variants listed as ivacaftor responsive on FDA-approved ivacaftor (Kalydeco) label (see change log for updates).	3	1
ALLELE_DEFINITION	CFTR	The ivacaftor (Kalydeco) label includes the CFTR variants as amino acid changes. Based on information in dbSNP, for four variants, the amino acid change can be coded by >1 nucleotide change at the same genomic position. In these cases the variant was named with the protein change and the nucleotide change in parentheses.	4	1
ALLELE_DEFINITION	CFTR	The ivacaftor label includes F311del. The variant is caused by a 3 bp deletion within a repetitive sequence C TTC TTC TTC T at nucleotide position 1059-1069. This results in a deletion of one of the phenylalanine residues at either position 311, 312 or 313.	5	1
ALLELE_DEFINITION	CFTR	F508C;S1251N includes the following footnote for Table 3 of the FDA-approved ivacaftor label (annotated by ClinPGx 10/05/2023): "Complex/compound mutations where a single allele of the CFTR gene has multiple mutations; these exist independent of the presence of mutations on the other allele."	6	1
TEST_ALERT	RxNorm:2393	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:2393	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:2393	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:2393	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:5640	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:5640	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
TEST_ALERT	RxNorm:1011650	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:1011650	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:2054023	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:2054023	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
ALLELE_DEFINITION	SLCO1B1	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	SLCO1B1	All variants are annotated to the positive DNA strand.	1	1
ALLELE_DEFINITION	SLCO1B1	An important caveat for all genotyping tests is that the decision to assign an allele a "wild-type" status is based upon a genotyping test that interrogates only the most common and already-proven sites of functional variation. In human DNA, it is always possible that a new, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as "wild-type."	2	1
ALLELE_DEFINITION	SLCO1B1	Citations for assignment of function can be found at https://www.pharmgkb.org/page/slco1b1RefMaterials	3	1
GENE_CDS	HLA-A	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	HLA-A	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	HLA-A	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	G6PD	The allele frequency table was made by searching the gnomAD database v2.1.1 except for Cairo from v3.1.2	0	1
FREQUENCY	G6PD	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	1	1
FREQUENCY	G6PD	See allele definition table (https://www.pharmgkb.org/page/g6pdRefMaterials) for allele definitions	2	1
FREQUENCY	G6PD	Because B(reference) is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a B (reference) assignment. The inferred frequency for B(reference) is calculated as: 1 - (sum of averaged variant allele frequencies) but this may not be accurate since there are many variants with no known frequency.	3	1
FREQUENCY	G6PD	Note that gnomAD does not calculate haploytpe frequencies. Some haplotypes have frequencies in this spreadsheet if a unique allele in the haplotype has frequency information in gnomAD AND if the other variant in the haplotype is known to have normal function	4	1
FREQUENCY	G6PD	Note that some variants in this spreadsheet can either be found alone or in a haplotype (in combination with other variants). Therefore the frequency reported MAY NOT BE FOR THE VARIANT ALONE, BUT ALSO FOR THE VARIANT IF FOUND IN A HAPLOTYPE.	5	1
TEST_ALERT	RxNorm:32968	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:32968	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:6857	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:6857	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:42316	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:42316	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	CYP2B6	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	CYP2B6	All variants are annotated to the positive chromosomal strand.	1	1
ALLELE_DEFINITION	CYP2B6	See PharmVar website (http://www.pharmvar.org) for comprehensive haplotype definitions of CYP2B6 variant alleles and updated allele information.	2	1
ALLELE_DEFINITION	CYP2B6	An important caveat for all genotyping tests is that the decision to assign an allele a "wild-type" status is based upon a genotyping test that interrogates only the most common and already-proven sites of functional variation. In human DNA, it is always possible that a new, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as "wild-type."	3	1
TEST_ALERT	RxNorm:2551	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:2551	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:2551	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:2551	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:6099	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:6099	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:8120	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:8120	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:8120	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:8120	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:10485	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10485	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	TPMT	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	TPMT	All variants are annotated to the positive DNA strand.	1	1
ALLELE_DEFINITION	TPMT	Variants are sourced from the TPMT nomenclature committee (TPMT Alleles), see https://liu.se/en/research/tpmt-nomenclature-committee	2	1
GENE_CDS	HLA-B	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	HLA-B	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	HLA-B	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	HLA-A	For full references see "References" tab.	0	1
FREQUENCY	HLA-A	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	HLA-A	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
TEST_ALERT	RxNorm:27340	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:27340	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:7531	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7531	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:10324	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10324	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:2670	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:2670	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:20890	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:20890	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
ALLELE_DEFINITION	CYP2C19	The variants included in the alleles are based on the PharmVar core alleles (for core allele definitions only, see https://www.pharmvar.org/gene/CYP2C19). In addition, variants that present in the core allele for one star allele but also present in some but not allsuballeles of another star allele are included in the other star allele as ambiguous changes using the IUPAC nucleotide code (https://www.bioinformatics.org/sms/iupac.html), e.g. the *4 consensus allele includes a "Y" being either C or T at the -806C>T position since this variant is part of the *17 core allele but is not part of the *4 core allele at PharmVar since it is not present in all *4 suballeles. These postions are represented in grey in the Comparative Allele ViewEr (CAVE) tool at PharmVar.	0	1
ALLELE_DEFINITION	CYP2C19	PharmVAR releases new alleles based on received submissions, see https://www.pharmvar.org for comprehensive haplotype definitions of CYP2C19 variant alleles, including sub-alleles, and updated allele information.	1	1
ALLELE_DEFINITION	CYP2C19	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	2	1
DIPLOTYPE_PHENOTYPE	DPYD	It is possible that a subject has > 2 DPYD variants and this DPYD_Diplotype_Phenotype_Table is a representation of possible DPYD genotypes considering the two functionally most impacted (lowest activity value) variants. Based on the CPIC guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update (PMID: 29152729), the DPD phenotype is assigned using a gene activity score (DPYD-AS; based on the DPYD Allele Functionality Table), calculated as the sum of the two DPYD variants with the lowest variant activity value. A translation of Allele Function combinations to Phenotype is available in the "DPYD_phenotypes" file. If two decreased/no function variants are present, each decreased/no function variant is considered to be on a different gene copy when the phase is not known.	0	1
ALLELE_DEFINITION	CYP2C19	All variants are annotated to the positive DNA strand.	3	1
TEST_ALERT	RxNorm:2049549	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:2049549	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:10627	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10627	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	UGT1A1	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	UGT1A1	All variants are annotated to the positive DNA strand.	1	1
ALLELE_DEFINITION	UGT1A1	To see a full list of known UGT1A1 alleles see https://www.pharmacogenomics.pha.ulaval.ca/wp-content/uploads/2015/04/UGT1A1-allele-nomenclature.html	2	1
ALLELE_DEFINITION	UGT1A1	An important caveat for all genotyping tests is that the decision to assign an allele a "wild-type" status is based upon a genotyping test that interrogates only the most common and already- proven sites of functional variation. In human DNA, it is always possible that a new, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as "wild-type".	3	1
ALLELE_DEFINITION	UGT1A1	Citations for assignment of function can be found at https://www.pharmgkb.org/page/ugt1a1RefMaterials	4	1
ALLELE_DEFINITION	UGT1A1	UGT1A1*80 is in very high linkage disequilibrium with *28 and *37. However, the function of the *80 allele alone, in the absence of *28 or *37, is uncertain. If a patient is only tested for *80, decreased function may be inferred, though linkage is not 100%.	5	1
ALLELE_DEFINITION	UGT1A1	TA repeat: Historically in the literature and at the UGT nomenclature website, the TA repeat is referred to as TA(6) for *1, TA(7) for *28, TA(5) for *36, etc. The UGT allele nomenclature website (https://www.pharmacogenomics.pha.ulaval.ca/wp-content/uploads/2015/04/UGT1A1-allele-nomenclature.html) defines them in more detail as for example: A(TA)6TAA to A(TA)7TAA for *28 and A(TA)6TAA to A(TA)5TAA for *36. Note that after the repeat and number, there is an additional TA listed in the flanking sequence as "TAA". Similar nomenclature/representation is in cell C2 of the table on the "Alleles" tab as historical referencing ("CA" in front as an anchor for the point in the sequence that the TA repeats are starting from). Rows 4 and 5 align with the indicated reference sequences. In cells C4 and C5, when counting from the first TA at the given position in the sequence and including the last TA, the 5, 6, 7, 8 repeats become 6, 7, 8, 9 because there are actually 6 to 9 "TA" repeats in the genomic and gene reference sequences.	6	1
GENE_CDS	MT-RNR1	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	MT-RNR1	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	MT-RNR1	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	HLA-B	For full references see "References" tab.	0	1
FREQUENCY	HLA-B	aAverage frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	HLA-B	bBased on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
TEST_ALERT	RxNorm:3247	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:3247	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:7646	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:7646	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
ALLELE_DEFINITION	CYP2C19	An important caveat for all genotyping tests is that the decision to assign an allele a wild-type status is based upon a genotyping test that interrogates only the most common and already- proven sites of functional variation. It is always possible that a novel, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as wild-type.	4	1
ALLELE_DEFINITION	CYP2C19	The deterimental CYP2C19*4-defining SNP (rs28399504) has been identified to be linked (i.e. on the same chromosome) with *17 (-806C>T; rs12248560) in certain ethnic subpopulations. To distinguish the *4 (no function) and *17 (increased function) alleles, both rs28399504 and rs12248560 needs to be genotyped [PMID: 21358751, PMID: 24012947]). This haplotype is designated CYP2C19*4B [PMID: 21716271, PMID: 21358751].	5	1
ALLELE_DEFINITION	CYP2C19	The SNP c.463G>T (rs374036992) has been identified to occur in linkage with the *17-defining SNP (- 806C>T; rs12248560). To distinguish *17 from this haplotype, c.463G>T needs to be genotyped [PMID: 25141895]. This allele has not been submitted to PharmVar for a star allele designation.	6	1
ALLELE_DEFINITION	CYP2C19	CYP2C19*27 was reassigned to CYP2C19*1.006 with PharmVar Version 4.0 Last Updated May 7 2019	7	1
ALLELE_DEFINITION	CYP2C19	CYP2C19*36 is a full gene deletion and *37 is a partial gene deletion that includes at least exon 1; for details see the PharmVar CYP2C19 GeneFocus (PMID 32602114) and the CYP2C19 Structural Variation document at https://www.pharmvar.org/gene/CYP2C19).	8	1
ALLELE_DEFINITION	CYP2C19	CYP2C19*38 was set as reference allele as this allele matches the human genome CYP2C19 Reference sequence LRG_584 / NG_008384.3. The RefSeq (LRG_584 / NG_008384.3) has 80161A while many of star alleles, including all *1 suballeles have 80161G. Thus, the CYP2C19*1 core allele is defined by one amino acid (I331V), while the *38 core allele definition does not have any amino acid changes.	9	1
TEST_ALERT	RxNorm:7646	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:7646	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:37790	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:37790	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
TEST_ALERT	RxNorm:3108	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:3108	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:6572	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:6572	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:6572	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:6572	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:8687	The specific wording of the alert text may differ among sites.	0	1
ALLELE_DEFINITION	VKORC1	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	0	1
ALLELE_DEFINITION	VKORC1	All variants are annotated to the positive DNA strand.	1	1
GENE_CDS	NAT2	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	NAT2	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	NAT2	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	MT-RNR1	For full references see "References" tab.	0	1
FREQUENCY	MT-RNR1	aAverage frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	MT-RNR1	bBased on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
TEST_ALERT	RxNorm:816346	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:816346	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:816346	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:816346	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:26225	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:26225	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:10834	The specific wording of the alert text may differ among sites.	0	1
ALLELE_DEFINITION	CYP2C9	PharmVAR releases new alleles based on received submissions, see https://www.pharmvar.org for comprehensive haplotype definitions of CYP2C9 variant alleles, including sub-alleles, and updated allele information.	0	1
ALLELE_DEFINITION	CYP2C9	rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)	1	1
ALLELE_DEFINITION	CYP2C9	All variants are annotated to the positive DNA strand.	2	1
ALLELE_DEFINITION	CYP2C9	An important caveat for all genotyping tests is that the decision to assign an allele a "wild-type" status is based upon a genotyping test that interrogates only the most common and already-proven sites of functional variation. In human DNA, it is always possible that a new, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as "wild-type."	3	1
ALLELE_DEFINITION	CYP2C9	Citations for assignment of function can be found at https://www.pharmgkb.org/page/cyp2c9RefMaterials	4	1
ALLELE_DEFINITION	CYP2C9	Content is accessed through the PharmVar API. HGVS and 'PharmVar-style' (accessible on the PharmVar website) positions may differ for indels in some instances which is most likely explained by differences in sequence alignments. Also, PharmVar displays single nucleotide insertions as 'ins' while the HGVS display is as duplications or 'dub' if the insertion is the same base as the prior base.	5	1
TEST_ALERT	RxNorm:10834	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:3328	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:3328	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:41493	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:41493	Pharmacist, pharmacologist, or a clinician with pharmacogenetic expertise/training.	1	1
TEST_ALERT	RxNorm:8687	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:8687	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:8687	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:10635	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:10635	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:10635	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:10635	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
ALLELE_FUNCTION_REFERENCE	CYP2B6	CYP2B6 functional metabolic effects may be substrate specific (and extrapolations to other substrates may not be reliable).	0	1
GENE_CDS	NUDT15	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	NUDT15	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	NUDT15	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	NUDT15	For full references see "References" tab.	0	1
FREQUENCY	NUDT15	Average frequencies based on the reported frequencies in one or multiple studies.	1	1
FREQUENCY	NUDT15	Based on the PharmGKB biogeographical groups https://www.pharmgkb.org/page/biogeographicalGroups	2	1
FREQUENCY	NUDT15	See allele definition table (https://www.pharmgkb.org/page/nudt15RefMaterials) for allele definitions	3	1
FREQUENCY	NUDT15	Because NUDT15*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a NUDT15*1 assignment. The inferred frequency for NUDT15*1 is calculated as: 1 - (sum of averaged variant allele frequencies).	4	1
TEST_ALERT	RxNorm:3638	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:3638	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:32624	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:32624	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:121243	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:121243	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:121243	The specific wording of the alert text may differ among sites.	2	1
ALLELE_DEFINITION	CYP2D6	The variants included in the alleles are based on the PharmVar core alleles (for core allele definitions only, see https://www.pharmvar.org/gene/CYP2D6). In addition, variants that present in the core allele for one star allele but also present in some but not all suballeles of another star allele are included in the other star allele as ambiguous changes using the IUPAC nucleotide code (https://www.bioinformatics.org/sms/iupac.html), e.g. the *4 consensus allele includes a "R" being either G or A (positive strand) at the 100C>T (P34S) position since this variant is part of other core star alleles, e.g. *10, but is not part of the *4 core allele at PharmVar since it is not present in all *4 suballeles. These postions are represented in grey (G) in the Comparative Allele ViewEr (CAVE) tool at PharmVar. The g.42129130C>G position is an exception. The SNP by itself causes a synonymous change, therefore by itself the SNP would not be part of a core allele based on the core allele definition. However, in *29 and *70 the SNP is needed for the amino acid change and therefore part of the *29 and *70 core allele definition in PharmVar. To follow the above, "S" is added at the position for star alleles in which not all suballeles carry the SNP. In case all suballeles have the SNP "G" is added.	0	1
ALLELE_DEFINITION	CYP2D6	At PharmVar, information about duplications and gene hybrids are available through https://www.pharmvar.org/gene-support/Variation_CYP2D6.pdf.	1	1
ALLELE_DEFINITION	CYP2D6	PharmVAR releases new alleles based on received submissions, see https://www.pharmvar.org for comprehensive haplotype definitions of CYP2D6 variant alleles, including sub-alleles, and updated allele information.	2	1
ALLELE_DEFINITION	CYP2D6	Amino acid changes are displayed per single variantion. However, in some alleles the 2 consecutive variants together cause a different amino acid change as each by itself. *29, *70: 1660G>A and 1662G>C result in V136I; *82: 1021A>T and 1022C>A result in T107Y; in exon 9 conversion: 4156C>T and 4157A>T result in H478S, 4168G>A and 4169C>G result in A482S	3	1
ALLELE_DEFINITION	CYP2D6	All variants are annotated to the positive DNA strand	4	1
ALLELE_DEFINITION	CYP2D6	rsID are RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/).	5	1
ALLELE_DEFINITION	CYP2D6	The CYP2D6*1 allele is characterized by the absence of any sequence variations. Consequently, this allele cannot be identified by a SNP; rather CYP2D6*1 is assigned by default when no SNPs are detected during testing.	6	1
ALLELE_DEFINITION	CYP2D6	The CYP2D6*2 allele is typically characterized by two amino acid changes; both, however also occur in many other CYP2D6 alleles. Therefore, if an allele carries these two SNPs exclusively, it is designated CYP2D6*2. Interrogating for additional SNPs is the only way to distinguish CYP2D6*2 from other alleles (e.g., CYP2D6*17 and *41).	7	1
ALLELE_DEFINITION	CYP2D6	4180G>C is present on many allelic variants including functional and non-functional variants. Specifically, it has been found on some CYP2D6*4 subvariants. While some tests include this SNP, it cannot be utilized to identify an allelic variant with certainty.	8	1
TEST_ALERT	RxNorm:121243	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:3445	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:3445	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:3445	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:3445	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:103	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:103	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:9071	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:9071	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:9071	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:9071	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:10638	The specific wording of the alert text may differ among sites.	0	1
ALLELE_FUNCTION_REFERENCE	CYP2D6	CNV alleles are based on Table 2 'CYP2D6 Identical Gene Duplications/Multiplications' from the PharmVar CYP2D6 structural variation document (https://a.storyblok.com/f/70677/x/d80b535e9c/cyp2d6_structural-variation_v3-2.pdf).	0	1
GENE_CDS	RYR1	The phenotype is used to store an interpretation of the test result. This is a design decision that may differ among sites.	0	1
GENE_CDS	RYR1	For this example, a priority result is defined as a genetic test result that results in a change in drug, drug dose, or drug monitoring.	1	1
GENE_CDS	RYR1	The specific wording of the interpretive text may differ among sites.	2	1
FREQUENCY	RYR1	For full references see "References" tab.	0	1
TEST_ALERT	RxNorm:195085	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:195085	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:40790	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:40790	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:40790	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:40790	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:190521	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:190521	"Clinical pharmacist" could also be pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	1	1
TEST_ALERT	RxNorm:3639	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:3639	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:3639	The specific wording of the alert text may differ among sites.	2	1
TEST_ALERT	RxNorm:3639	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenetics expertise/training.	3	1
TEST_ALERT	RxNorm:6878	The specific wording of the alert text may differ among sites.	0	1
ALLELE_DEFINITION	CYP2D6	An important caveat for all genotyping tests is that the decision to assign an allele a wild-type status is based upon a genotyping test that interrogates only the most common and already- proven sites of functional variation. It is always possible that a novel, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called as wild-type.	9	1
ALLELE_DEFINITION	CYP2D6	Content is accessed through the PharmVar API. HGVS and 'PharmVar-style' (accessible on the PharmVar website) positions may differ for indels in some instances which is most likely explained by differences in sequence alignments. Also, PharmVar displays single nucleotide insertions as 'ins' while the HGVS display is as duplications or 'dup' if the insertion is the same base as the prior base. The entries in the 'Free Text' field in row 2 reflect the default variant names on the CYP2D6 PharmVar page (https://www.pharmvar.org/gene/CYP2D6). Additional variant coordinates are consistent with the content displayed on the upper section of the 'Variant Positions' window which can be accessed by clicking on the variant of interest on the CYP2D6 PharmVar page.	10	1
TEST_ALERT	RxNorm:6878	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:283821	The specific wording of the alert text may differ among sites.	0	1
TEST_ALERT	RxNorm:283821	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
TEST_ALERT	RxNorm:10638	"Clinical pharmacist" may be a pharmacist, pharmacologist, or a clinician with pharmacogenomics expertise/training.	1	1
\.


--
-- Data for Name: flyway_schema_history; Type: TABLE DATA; Schema: cpic; Owner: -
--

COPY cpic.flyway_schema_history (installed_rank, version, description, type, script, checksum, installed_by, installed_on, execution_time, success) FROM stdin;
1	1	Initial bootstrap	SQL	V1__Initial_bootstrap.sql	1343833882	cpic	2020-09-30 21:02:41.398674	17646	t
2	2	initial data	SQL	V2__initial_data.sql	1569953039	cpic	2020-09-30 21:03:00.181244	1464	t
3	3	views	SQL	V3__views.sql	1637573145	cpic	2020-09-30 21:03:02.68466	2906	t
4	4	flow charts	SQL	V4__flow_charts.sql	-461764197	cpic	2020-09-30 21:03:06.637242	3674	t
5	6	nsaid release	SQL	V6__nsaid_release.sql	1899796322	cpic	2020-09-30 21:03:11.349979	2479	t
6	7	nsaid pair data	SQL	V7__nsaid_pair_data.sql	-1759040576	cpic	2020-09-30 21:03:14.862537	1507	t
7	8	data progress view	SQL	V8__data_progress_view.sql	-583739949	cpic	2020-09-30 21:03:17.405314	325	t
8	9	file view	SQL	V9__file_view.sql	-435728782	cpic	2020-09-30 21:03:18.784115	320	t
9	10	pair data update	SQL	V10__pair_data_update.sql	1561416759	cpic	2020-09-30 21:03:20.133162	720	t
10	11	guideline in drug model	SQL	V11__guideline_in_drug_model.sql	1721141764	cpic	2020-09-30 21:03:21.898691	476	t
11	12	pair data update	SQL	V12__pair_data_update.sql	-1970090295	cpic	2020-09-30 21:03:23.402028	233	t
12	13	add publications	SQL	V13__add_publications.sql	1291951866	cpic	2020-09-30 21:03:24.679997	320	t
13	14	add highlighted publications	SQL	V14__add_highlighted_publications.sql	759335679	cpic	2020-09-30 21:03:26.044179	399	t
14	15	pair data update	SQL	V15__pair_data_update.sql	81113836	cpic	2020-09-30 21:03:27.481903	243	t
15	16	update ibuprofen ATC	SQL	V16__update_ibuprofen_ATC.sql	1407599949	cpic	2020-09-30 21:03:28.777477	243	t
16	18	allele status lookup	SQL	V18__allele_status_lookup.sql	-859499970	cpic	2020-09-30 21:03:30.070317	482	t
17	19	new publication	SQL	V19__new_publication.sql	-1342471317	cpic	2020-09-30 21:03:31.581321	315	t
18	20	update sequence IDs	SQL	V20__update_sequence_IDs.sql	-75396910	cpic	2020-09-30 21:03:32.939966	480	t
19	21	recommendation lookup fn	SQL	V21__recommendation_lookup_fn.sql	-1422255981	cpic	2020-09-30 21:03:34.466215	478	t
20	22	ppi release	SQL	V22__ppi_release.sql	-1608844545	cpic	2020-09-30 21:03:35.973984	885	t
21	23	helpful views	SQL	V23__helpful_views.sql	1737227498	cpic	2020-09-30 21:03:37.894656	1362	t
22	24	new drug flowcharts	SQL	V24__new_drug_flowcharts.sql	426101726	cpic	2020-09-30 21:03:40.286768	888	t
23	25	phenytoin guideline update	SQL	V25__phenytoin_guideline_update.sql	-746232628	cpic	2020-09-30 21:03:42.235826	481	t
24	26	validate pair pmids	SQL	V26__validate_pair_pmids.sql	-1806818774	cpic	2020-09-30 21:03:43.755407	240	t
25	27	reference allele	SQL	V27__reference_allele.sql	849245471	cpic	2020-09-30 21:03:45.03582	1701	t
26	\N	apply permissions	SQL	R__apply_permissions.sql	-1445996752	cpic	2020-09-30 21:03:47.781042	1352	t
27	28	more allele frequency	SQL	V28__more_allele_frequency.sql	805701621	cpic	2020-10-06 04:45:31.882019	65	t
28	29	gene notes on diplotype	SQL	V29__gene_notes_on_diplotype.sql	-32272162	cpic	2020-10-06 04:45:31.979835	39	t
29	30	fix diplotype note column name	SQL	V30__fix_diplotype_note_column_name.sql	-1780194441	cpic	2020-10-06 20:33:55.825135	12	t
30	31	structural variant alleles	SQL	V31__structural_variant_alleles.sql	907385290	cpic	2020-10-21 16:33:11.171586	21	t
31	32	more notes	SQL	V32__more_notes.sql	946380705	cpic	2020-10-26 04:13:26.606463	33	t
32	33	remove allele frequency	SQL	V33__remove_allele_frequency.sql	370457724	cpic	2020-10-29 02:34:55.945477	28	t
33	34	add constraints to publication	SQL	V34__add_constraints_to_publication.sql	1822736403	cpic	2020-12-07 19:33:55.270759	86	t
34	35	opioid release	SQL	V35__opioid_release.sql	-334675632	cpic	2021-01-08 00:30:17.865038	51	t
35	36	update allele view	SQL	V36__update_allele_view.sql	-926799802	cpic	2021-01-15 23:54:12.278947	96	t
36	37	remove unused column	SQL	V37__remove_unused column.sql	-2122981860	cpic	2021-03-25 17:42:36.558878	134	t
37	38	gene urls	SQL	V38__gene_urls.sql	1563545318	cpic	2021-03-25 17:42:36.742551	62	t
38	\N	apply permissions	SQL	R__apply_permissions.sql	-575065814	cpic	2021-03-25 17:42:36.82488	28	t
39	39	guideline summary view	SQL	V39__guideline_summary_view.sql	480060255	cpic	2021-03-26 20:19:53.149371	58	t
40	\N	apply permissions	SQL	R__apply_permissions.sql	-1861354715	cpic	2021-03-26 20:19:53.225004	31	t
41	40	fix flowchart urls	SQL	V40__fix_flowchart_urls.sql	-1456884835	cpic	2021-05-11 18:22:43.25079	46	t
43	42	aminoglycosides guideline	SQL	V42__aminoglycosides_guideline.sql	540949488	cpic	2021-06-14 04:40:37.690857	93	t
44	43	seq loc unique key	SQL	V43__seq_loc_unique_key.sql	-1638696174	cpic	2021-06-14 04:40:37.808891	52	t
45	44	functionmethods	SQL	V44__functionmethods.sql	2079604482	cpic	2021-06-29 15:43:53.422219	16	t
46	45	sequence location position	SQL	V45__sequence_location_position.sql	1314277241	cpic	2021-07-09 21:30:29.833003	102	t
47	46	fix dbsnpid column	SQL	V46__fix_dbsnpid_column.sql	-1850897598	cpic	2021-08-05 17:38:43.759722	21	t
48	47	guideline fns	SQL	V47__guideline_fns.sql	-1198346012	cpic	2021-08-18 22:14:26.14922	30	t
49	48	update guideline allele fn	SQL	V48__update_guideline_allele_fn.sql	-1854568090	cpic	2021-09-09 21:03:26.214156	30	t
50	49	fix allele findings	SQL	V49__fix_allele_findings.sql	976892510	cpic	2021-09-09 21:03:26.268771	65	t
51	50	fix IFNL3 lookup	SQL	V50__fix_IFNL3_lookup.sql	119727388	cpic	2021-10-13 17:22:27.82421	9	t
52	51	fix guideline allele fn	SQL	V51__fix_guideline_allele_fn.sql	798068262	cpic	2021-11-10 05:57:09.346894	62	t
53	52	recommendation alleles view	SQL	V52__recommendation_alleles_view.sql	-1879594301	cpic	2021-12-07 15:59:50.932388	98	t
54	\N	apply permissions	SQL	R__apply_permissions.sql	-1576403970	cpic	2021-12-07 15:59:51.080556	20	t
55	53	statins guideline	SQL	V53__statins_guideline.sql	-374639719	cpic	2022-02-16 23:10:42.374259	18	t
56	54	publication index	SQL	V54__publication_index.sql	-1084867310	cpic	2022-02-18 22:16:35.644864	11	t
57	55	allele frequency cache	SQL	V55__allele_frequency_cache.sql	778761699	cpic	2022-03-09 23:20:36.042025	13	t
58	56	gene legacy names	SQL	V56__gene_legacy_names.sql	-442391864	cpic	2022-03-17 23:13:23.411535	13	t
59	57	pgkb recs fn update	SQL	V57__pgkb_recs_fn_update.sql	415609266	cpic	2022-06-10 14:24:09.906199	22	t
42	41	publication files	SQL	V41__publication_files.sql	389573953	cpic	2021-05-11 18:22:43.398622	319	t
60	\N	apply permissions	DELETE	R__apply_permissions.sql	-1576403970	cpic	2022-08-16 07:29:30.595272	0	t
61	58	stats table	SQL	V58__stats_table.sql	1603923816	cpic	2022-08-16 07:35:43.159887	60	t
62	59	remove allele guideline	SQL	V59__remove_allele_guideline.sql	-1144551837	cpic	2022-09-14 17:55:53.477071	21	t
63	60	reference allele	SQL	V60__reference_allele.sql	1296637883	cpic	2022-09-14 17:55:53.52649	26	t
64	61	G6PD guideline prep	SQL	V61__G6PD_guideline_prep.sql	1983975991	cpic	2022-09-14 17:55:53.577532	28	t
65	62	G6PD flow charts	SQL	V62__G6PD_flow_charts.sql	626814934	cpic	2022-09-22 16:42:28.143006	29	t
66	63	fosphenytoin flow chart	SQL	V63__fosphenytoin_flow_chart.sql	1952328724	cpic	2022-09-30 13:34:29.608278	28	t
67	64	recommendation flags	SQL	V64__recommendation_flags.sql	-797174188	cpic	2023-02-27 19:42:13.143746	42	t
68	65	frequency flags	SQL	V65__frequency_flags.sql	-477833361	cpic	2023-03-23 11:54:36.147354	42	t
69	66	ssri snri guideline	SQL	V66__ssri_snri_guideline.sql	-1949888557	cpic	2023-04-12 19:43:47.434594	34	t
70	67	frequency view fix	SQL	V67__frequency_view_fix.sql	-1816979743	cpic	2023-09-01 14:42:15.154823	41	t
71	68	fix function definitions	SQL	V68__fix_function_definitions.sql	1243132888	cpic	2024-01-12 20:33:40.207106	11	t
72	69	change log releases	SQL	V69__change_log_releases.sql	1272931372	cpic	2024-05-09 15:03:57.003783	276	t
73	70	fix allele freq view	SQL	V70__fix_allele_freq_view.sql	-957778206	cpic	2024-10-03 15:13:15.938037	9	t
74	71	fix guideline summary view	SQL	V71__fix_guideline_summary_view.sql	-1334280856	cpic	2025-03-07 16:21:39.906989	8	t
75	72	gene cds changelog	SQL	V72__gene_cds_changelog.sql	1161542228	cpic	2025-08-13 13:08:11.731509	7	t
76	73	clinpgx guideline update	SQL	V73__clinpgx_guideline_update.sql	-1024347267	cpic	2025-08-13 13:08:11.764363	15	t
77	74	supplemental file cleanup	SQL	V74__supplemental_file_cleanup.sql	822347170	cpic	2025-08-21 13:23:06.297301	15	t
78	75	hydrazaline guideline	SQL	V75__hydrazaline_guideline.sql	1311712376	cpic	2025-09-08 15:29:54.084279	6	t
\.


--
-- Data for Name: gene; Type: TABLE DATA; Schema: cpic; Owner: -
--

COPY cpic.gene (symbol, chr, genesequenceid, proteinsequenceid, chromosequenceid, mrnasequenceid, hgncid, ncbiid, ensemblid, pharmgkbid, frequencymethods, lookupmethod, version, notesondiplotype, url, functionmethods, notesonallelenaming, includephenotypefrequencies, includediplotypefrequencies) FROM stdin;
ERCC1	chr19	NG_015839	NP_001974	\N	\N	HGNC:3433	2067	ENSG00000012061	PA155	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
POLG	chr15	NG_008218	NP_002684	\N	\N	HGNC:9179	5428	ENSG00000140521	PA33500	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
ASS1	chr9	NG_011542	NP_000041	\N	\N	HGNC:758	445	ENSG00000130707	PA162376926	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
DRD2	chr11	NG_008841	NP_000786	\N	\N	HGNC:3023	1813	ENSG00000149295	PA27478	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
ATIC	chr2	NG_013002	NP_004035	\N	\N	HGNC:794	471	ENSG00000138363	PA25094	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
APOE	chr19	NG_007084	NP_000032	\N	\N	HGNC:613	348	ENSG00000130203	PA55	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
GSTM1	chr1	NG_009246	NP_000552	\N	\N	HGNC:4632	2944	ENSG00000134184	PA182	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
F5	chr1	NG_011806	NP_000121	\N	\N	HGNC:3542	2153	ENSG00000198734	PA159	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
CYB5R3	chr22	NG_012194	NP_000389	\N	\N	HGNC:2873	1727	ENSG00000100243	PA27331	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
CHRNA3	chr15	NG_016143	NP_000734	\N	\N	HGNC:1957	1136	ENSG00000080644	PA113	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
HMGCR	chr5	NG_011449	NP_000850	\N	\N	HGNC:5006	3156	ENSG00000113161	PA189	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
CRHR1	chr17	NG_009902	NP_004373	\N	\N	HGNC:2357	1394	ENSG00000120088	PA26874	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
ITPA	chr20	NG_012093	NP_258412	\N	\N	HGNC:6176	3704	ENSG00000125877	PA29973	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
MC4R	chr18	NG_016441	NP_005903	\N	\N	HGNC:6932	4160	ENSG00000166603	PA30676	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
COQ2	chr4	NG_015825	NP_056512	\N	\N	HGNC:25223	27235	ENSG00000173085	PA142672084	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
HTR2C	chrX	NG_012082	NP_000859	\N	\N	HGNC:5295	3358	ENSG00000147246	PA194	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
OTC	chrX	NG_008471	NP_000522	\N	\N	HGNC:8512	5009	ENSG00000036473	PA32840	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
MTRR	chr5	NG_008856	NP_002445	\N	\N	HGNC:7473	4552	ENSG00000124275	PA31277	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
LPA	chr6	NG_016147	NP_005568	\N	\N	HGNC:6667	4018	ENSG00000198670	PA30432	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
NAT1	chr8	NG_012245	NP_000653	\N	\N	HGNC:7645	9	ENSG00000171428	PA17	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
CPS1	chr2	NG_008285	NP_001866	\N	\N	HGNC:2323	1373	ENSG00000021826	PA26840	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
EGF	chr4	NG_011441	NP_001954	\N	\N	HGNC:3229	1950	ENSG00000138798	PA27664	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
DYNC2H1	chr11	NG_016423	NP_001368	\N	\N	HGNC:2962	79659	ENSG00000187240	PA27433	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
GNB3	chr12	NG_009100	NP_002066	\N	\N	HGNC:4400	2784	ENSG00000111664	PA176	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
SEMA3C	chr7	\N	NP_006370	\N	\N	HGNC:10725	10512	ENSG00000075223	PA35647	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
KIF6	chr6	\N	NP_659464	\N	\N	HGNC:21202	221458	ENSG00000164627	PA134920075	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
CCHCR1	chr6	\N	NP_061925	\N	\N	HGNC:13930	54535	ENSG00000204536	PA134942738	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
FCGR3A	chr1	NG_009066	NP_000560	\N	\N	HGNC:3619	2214	ENSG00000203747	PA28065	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
NAGS	chr17	NG_008106	NP_694551	\N	\N	HGNC:17996	162417	ENSG00000161653	PA134968729	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
LDLR	chr19	NG_009060	NP_000518	\N	\N	HGNC:6547	3949	ENSG00000130164	PA227	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
ASL	chr7	NG_009288	NP_000039	\N	\N	HGNC:746	435	ENSG00000126522	PA25046	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
HPRT1	chrX	NG_012329	NP_000185	\N	\N	HGNC:5157	3251	ENSG00000165704	PA29427	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
ANKK1	chr11	NG_012976	NP_848605	\N	\N	HGNC:21027	255239	ENSG00000170209	PA134872551	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
XPC	chr3	NG_011763	NP_004619	\N	\N	HGNC:12816	7508	ENSG00000154767	PA37413	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
ADRA2C	\N	\N	\N	\N	\N	HGNC:283	152	ENSG00000184160	PA37	\N	PHENOTYPE	20	\N	https://cpicpgx.org/gene/adra2c/	\N	\N	t	t
CALU	chr7	\N	NP_001210	\N	\N	HGNC:1458	813	ENSG00000128595	PA26047	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
CES1	chr16	NG_012057	NP_001257	\N	\N	HGNC:1863	1066	ENSG00000198848	PA107	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
ADRB2	chr5	NG_016421	NP_000015	\N	\N	HGNC:286	154	ENSG00000169252	PA39	\N	PHENOTYPE	3	\N	https://cpicpgx.org/gene/adrb2/	\N	\N	t	t
FKBP5	chr6	NG_012645	NP_004108	\N	\N	HGNC:3721	2289	ENSG00000096060	PA28162	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
ACE	chr17	NG_011648	NP_000780	\N	\N	HGNC:2707	1636	ENSG00000159640	PA139	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
TXNRD2	chr22	NG_011835	NP_006431	\N	\N	HGNC:18155	10587	ENSG00000184470	PA38302	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
GBA	chr1	NG_009783	NP_000148	\N	\N	HGNC:4177	2629	ENSG00000177628	PA28591	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
HLA-DRB1	chr6	NG_002392	NP_002115	\N	\N	HGNC:4948	3123	ENSG00000196126	PA35072	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
CETP	chr16	NG_008952	NP_000069	\N	\N	HGNC:1869	1071	ENSG00000087237	PA108	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
UGT1A4	chr2	NG_002601	NP_009051	\N	\N	HGNC:12536	54657	ENSG00000244474	PA37179	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
TP53	chr17	NG_017013	NP_000537	\N	\N	HGNC:11998	7157	ENSG00000141510	PA36679	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
PRKCA	chr17	NG_012206	NP_002728	\N	\N	HGNC:9393	5578	ENSG00000154229	PA33759	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
TCF7L2	chr10	NG_012631	NP_110383	\N	\N	HGNC:11641	6934	ENSG00000148737	PA36394	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
ADD1	chr4	NG_012037	NP_001110	\N	\N	HGNC:243	118	ENSG00000087274	PA31	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
TMEM43	chr3	NG_008975	NP_077310	\N	\N	HGNC:28472	79188	ENSG00000170876	PA134871907	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
SOD2	chr6	NG_008729	NP_000627	\N	\N	HGNC:11180	6648	ENSG00000112096	PA36017	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
SERPINC1	chr1	NG_012462	NP_000479	\N	\N	HGNC:775	462	ENSG00000117601	PA35026	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
TNF	chr6	NG_007462	NP_000585	\N	\N	HGNC:11892	7124	ENSG00000232810	PA435	\N	PHENOTYPE	2	\N	\N	\N	\N	t	t
C11orf65	chr11	\N	NP_689800	\N	\N	HGNC:28519	160140	ENSG00000166323	PA144596484	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
HAS3	chr16	\N	NP_005320	\N	\N	HGNC:4820	3038	ENSG00000103044	PA29196	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
SLC47A2	chr17	\N	NP_001093116	\N	\N	HGNC:26439	146802	ENSG00000180638	PA162403847	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
CBR3	chr21	\N	NP_001227	\N	\N	HGNC:1549	874	ENSG00000159231	PA26122	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
NT5C2	chr10	\N	NP_036361	\N	\N	HGNC:8022	22978	ENSG00000076685	PA31801	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
NEDD4L	chr18	\N	NP_056092	\N	\N	HGNC:7728	23327	ENSG00000049759	PA31534	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
CYB5R1	chr1	\N	NP_057327	\N	\N	HGNC:13397	51706	ENSG00000159348	PA134979668	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
SLC28A3	chr9	\N	NP_071410	\N	\N	HGNC:16484	64078	ENSG00000197506	PA426	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
FDPS	chr1	\N	NP_001995	\N	\N	HGNC:3631	2224	ENSG00000160752	PA28075	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
PTGFR	chr1	\N	NP_000950	\N	\N	HGNC:9600	5737	ENSG00000122420	PA290	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
KCNIP4	chr4	\N	NP_671711	\N	\N	HGNC:30083	80333	ENSG00000185774	PA134893552	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
HLA-DQA1	chr6	\N	NP_002113	\N	\N	HGNC:4942	3117	ENSG00000196735	PA35066	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
ABCC4	chr13	\N	NP_005836	\N	\N	HGNC:55	10257	ENSG00000125257	PA397	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
ABL2	chr1	\N	NP_005149	\N	\N	HGNC:77	27	ENSG00000143322	PA24414	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
UGT2B15	chr4	\N	NP_001067	\N	\N	HGNC:12546	7366	ENSG00000196620	PA37188	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
YEATS4	chr12	\N	NP_006521	\N	\N	HGNC:24859	8089	ENSG00000127337	PA134992686	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
TANC1	chr2	\N	NP_203752	\N	\N	HGNC:29364	85461	ENSG00000115183	PA142670838	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
CRHR2	chr7	\N	NP_001874	\N	\N	HGNC:2358	1395	ENSG00000106113	PA26875	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
CYB5R2	chr11	\N	NP_057313	\N	\N	HGNC:24376	51700	ENSG00000166394	PA142672060	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
XRCC1	chr19	\N	NP_006288	\N	\N	HGNC:12828	7515	ENSG00000073050	PA369	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
COL22A1	chr8	\N	NP_690848	\N	\N	HGNC:22989	169044	ENSG00000169436	PA134914705	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
CYB5R4	chr6	\N	NP_057314	\N	\N	HGNC:20147	51167	ENSG00000065615	PA134904907	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
C8orf34	chr8	\N	NP_443190	\N	\N	HGNC:30905	116328	ENSG00000165084	PA142672353	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
ADORA2A	chr22	\N	NP_000666	\N	\N	HGNC:263	135	ENSG00000128271	PA24584	\N	PHENOTYPE	3	\N	\N	\N	\N	t	t
NAT2	chr8	NG_012246.1	NP_000006.2	NC_000008.11	NM_001042351.2	HGNC:7646	10	ENSG00000156006	PA18	\N	PHENOTYPE	123	\N	\N	\N	Common name	t	t
ADRB1	\N	\N	\N	\N	\N	HGNC:285	153	ENSG00000043591	PA38	\N	PHENOTYPE	106	\N	https://cpicpgx.org/gene/adrb1/	\N	\N	t	t
CYP2A7P1	chr19	NG_000008	\N	\N	\N	HGNC:2612	1550	ENSG00000213908	PA27103	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
FLOT1	chr6	\N	NP_005794	\N	\N	HGNC:3757	10211	ENSG00000137312	PA28175	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
GRIK4	chr11	\N	NP_055434	\N	\N	HGNC:4582	2900	ENSG00000149403	PA28976	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
GRK4	\N	\N	\N	\N	\N	HGNC:4543	2868	ENSG00000125388	PA28941	\N	PHENOTYPE	20	\N	https://cpicpgx.org/gene/grk4/	\N	\N	t	t
GRK5	\N	\N	\N	\N	\N	HGNC:4544	2869	ENSG00000198873	PA180	\N	PHENOTYPE	106	\N	https://cpicpgx.org/gene/grk5/	\N	\N	t	t
HLA-C	chr6	NG_002397	NP_002108	\N	\N	HGNC:4933	3107	ENSG00000204525	PA35057	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
HLA-DPB1	chr6	\N	NP_002112	\N	\N	HGNC:4940	3115	ENSG00000223865	PA35064	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
HTR1A	chr5	\N	NP_000515	\N	\N	HGNC:5286	3350	ENSG00000178394	PA192	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
IFNL4	chr19	\N	\N	\N	\N	HGNC:44480	101180976	ENSG00000272395	PA166049147	\N	PHENOTYPE	110	\N	https://cpicpgx.org/gene/ifnl/	\N	\N	t	t
LTC4S	chr5	\N	NP_665874	\N	\N	HGNC:6719	4056	ENSG00000213316	PA235	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
OPRM1	chr6	NG_021208	NP_000905	\N	\N	HGNC:8156	4988	ENSG00000112038	PA31945	\N	PHENOTYPE	101	\N	https://cpicpgx.org/gene/oprm1/	\N	\N	t	t
PTGS1	chr9	\N	NP_000953	\N	\N	HGNC:9604	5742	ENSG00000095303	PA24346	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
HLA-A	chr6	NG_002398	NP_002107	\N	\N	HGNC:4931	3105	ENSG00000206503	PA35055	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to September 2019). The following criteria were used for HLA-A: (HLA-A) AND (allele OR frequency). In addition, reports were also identified from citations by others or review articles. Studies were considered for inclusion in the HLA-A frequency table if: (1) the ethnicity of the population was clearly indicated, (2) either allele frequencies or genotype frequencies were reported, (3) the method by which the genes were genotyped was indicated, (4) the sample population consisted of at least 50 individuals with a few exceptions (e.g., smaller cohorts that were part of larger studies) and (5) the study represented an original publication (no reviews or meta-analyses). Allele frequencies reported in phase 3 1000 Genomes (http://browser.1000genomes.org/index.html) and from allelefrequencies.net (https://www.allelefrequencies.net) were also included .\nCaveats to estimated allele frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	ALLELE_STATUS	211	\N	https://cpicpgx.org/gene/hla/	\N	\N	f	f
NUDT15	chr13	NG_047021.1	NP_060753.1	NC_000013.11	NM_001042351.2	HGNC:23063	55270	ENSG00000136159	PA134963132	The allele frequency table was made by searching the PubMed® database (no start date to 1/2018). Allele frequencies reported in the gnomAD browser (http://gnomad.broadinstitute.org/ - exomes and genomes) and ensembl (grch37.ensembl.org - exomes or genomes) were also included. URLs are included in the "PMID" column.\n\nDiplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies.\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because *1 is not genotyped directly in many studies, all alleles that are negative for a sequence variation are defaulted to a *1 assignment. The inferred frequency for *1 is estimated as: 100 - (sum of averaged variant allele frequencies). For genes where many alleles are not tested for in any population, and frequency of 'common' alleles is not well documented in many understudied populations (Oceania, South Asian, Latino), the *1 frequency will deviate even more from true values.\n\nDiplotype/Phenotype frequency estimates. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies. When calculating diplotype frequencies from these allele frequencies, the margin of error is compounded based on the margin of error on each allele in the diplotype. So, the margin of error will necessarily increase for diplotype frequency estimates compared to allele frequency estimates. For allele frequencies with already large margins of error due to small and non-random sampling, the diplotype margin of error could potentially be quite large. On the other hand, for well-studied alleles, the margin of error is likely low.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	415	\N	https://cpicpgx.org/gene/nudt15/	\N	Common name	t	t
DPYD	chr1	NG_008807.2	NP_000101.2	NC_000001.11	NM_000110.4	HGNC:3012	282617	ENSG00000188641	PA145	Methods:\nThe DPYD frequency table was created using data from ExAC (http://exac.broadinstitute.org/) and the 1000 Genomes project (http://www.ensembl.org/Homo_sapiens/Info/Index).\nThe average allele frequencies by race were calculated by taking the number with the variant in all studies divided by the total number of individuals tested for the variant in all studies.\nAll nucleotide changes are according to reference sequence NM_000110.3 and all protein changes are according to reference sequence NP_000101.2\nCaveats\nIf 1000 Genomes and/or ExAC did not return any frequency data for a given variant, cells were left blank\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.\n\n\n\n\n\n\n\n	ACTIVITY_SCORE	424	The DPYD phenotype is assigned using a gene activity score (DPYD-AS; based on the DPYD Allele Functionality Table), calculated as the sum of the two DPYD variants with the lowest variant activity value. Briefly, carriers of two no function variants (DPYD-AS: 0) OR one decreased function variant (DPD-AS: 0.5) are classified as DPYD poor metabolizers; carriers of two decreased function variants OR carriers of only one no function variant (DPYD-AS: 1) OR carriers of only one decreased function variant (DPYD-AS: 1.5) are considered DPYD intermediate metabolizers , and those with only normal function variants are classified as DPYD normal metabolizers (DPYD-AS: 2). If two decreased/no function variants are present, each decreased/no function variant is considered to be on a different gene copy. Irrespective of the presence of decreased/no function variants, patients may carry multiple normal function variants. As an individual only carries a maximum of two fully functional DPYD copies, common normal function variants may be located on the same gene copy as other normal function variants or decreased/no function variants.	https://cpicpgx.org/gene/dpyd/	\N	Legacy Name/Class	f	f
RYR1	chr19	NG_008866.1	NP_000531.2	NC_000019.10	NM_000540.2	HGNC:10483	6261	ENSG00000196218	PA34896	Methods\n\nTable includes variants based on an update of the CPIC guideline for potent volatile anesthetic agents and succinylcholine. The guideline update includes the published list of RYR1 variants (supplemental table S2), which are evaluated by the ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel and classified for RYR1-related malignant hyperthermia susceptibility based on specified ACMG/AMP criteria (PMID 35849058).\n\ngnomAD v2.1.1 was queried with the variant positions or rsIDs.\ngnomAD population description - PharmGKB biogeographical group mapping:\nAfrican/African American - Sub-Saharan African\nSouth Asian - Central/South Asian\nLatino/Admixed American - Latino\nEast Asian - East Asian\nNon-Finnish European - European\nAshkenazi Jewish - Near Eastern\n\nCaveats to estimated allele, frequencies:\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	415	\N	https://cpicpgx.org/gene/ryr1/	\N	Common name	f	f
ABCB1	chr7	NG_011513	NP_000918	\N	\N	HGNC:40	5243	ENSG00000085563	PA267	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
MT-RNR1	chrM	NG_042193.1	NP_000101.2	NC_012920.1	NM_001042351.2	HGNC:7470	4549	ENSG00000211459	PA31274	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to September 2019). The following criteria were used for MT-RNR1: (Mitochondrial AND (A1555G OR C1494T OR T1095C) AND frequency). In addition, reports were also identified from citations by others or review articles. Studies were considered for inclusion in the MT-RNR1 frequency table if: (1) the ethnicity of the population was clearly indicated, (2) the method by which the genes were genotyped was indicated, (3) the sample population consisted of at least 50 individuals with a few exceptions (e.g., smaller cohorts that were part of larger studies) and (4) the study represented an original publication (no reviews or meta-analyses). Homoplasmic allele frequencies reported in gnomAD (https://gnomad.broadinstitute.org/) were also included .\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	379	\N	https://cpicpgx.org/gene/mt-rnr1/	\N	Common name	f	f
CYP4F2	chr19	NG_007971.2	NP_001073.3	NC_000019.10	NM_000069.2	HGNC:2645	8529	ENSG00000186115	PA27121	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to 2016). Allele frequencies reported in and gnomD browser and phase 3 1000 Genomes were also included (https://gnomad.broadinstitute.org/, http://browser.1000genomes.org/index.html) for alleles that contain single unique variant.\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because *1 is not genotyped directly in many studies, all alleles that are negative for a sequence variation are defaulted to a *1 assignment. Because CYP4F2*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a CYP4F2*1 assignment. Likewise, sequence variations of alleles that are not tested may default to a CYP4F2*1 assignment and hence contribute to the frequencies reported for this allele. Therefore, the inferred frequency for CYP4F2*1 was calculated as an average from studies describing allele frequencies for the most common alleles found in a particular biogeographical group.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	330	CYP4F2 diplotype to phenotype translation is not applicable to the warfarin guideline.	https://cpicpgx.org/gene/cyp4f2/	\N	Legacy Name/Class	f	f
BCHE	chr3	NG_009031	NP_000046	\N	\N	HGNC:983	590	ENSG00000114200	PA25294	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
TYMS	chr18	\N	NP_001062	\N	\N	HGNC:12441	7298	ENSG00000176890	PA359	\N	PHENOTYPE	108	\N	\N	\N	\N	t	t
ABCG2	chr4	NG_032067.2	NP_001335914.1	NC_000004.12	NM_004827.3	HGNC:74	9429	ENSG00000118777	PA390	Methods\n\nThe allele frequency table was made by searching the Genome Aggregation Database (gnomAD) and 1000 Genomes phase 3 data by rsID. In addition, pubmed were also searched to include frequencies for certain biogeographical groups (eg. Oceanian and American).\n\nCaveats to estimated allele, frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	322	\N	https://cpicpgx.org/gene/abcg2/	\N	\N	t	t
ACYP2	\N	\N	\N	\N	\N	HGNC:180	98	ENSG00000170634	PA24500	\N	PHENOTYPE	81	\N	\N	\N	\N	t	t
UMPS	chr3	NG_017037	NP_000364	\N	\N	HGNC:12563	7372	ENSG00000114491	PA363	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
CFTR	chr7	NG_016465.4	NP_000483.3	NC_000007.14	NM_000069.2	HGNC:1884	1080	ENSG00000001626	PA109	\N	PHENOTYPE	317	\N	https://cpicpgx.org/gene/cftr/	\N	Legacy Name/Class	t	t
UGT1A1	chr2	NG_002601.2	NP_000454.1	NC_000002.12	NM_000540.2	HGNC:12530	54658	ENSG00000241635	PA420	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to 2015). Allele frequencies reported in phase 3 1000 Genomes were also included (http://browser.1000genomes.org/index.html).\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because *1 is not genotyped directly in many studies, all alleles that are negative for a sequence variation are defaulted to a *1 assignment. Because UGT1A1*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a UGT1A1*1 assignment. Likewise, sequence variations of alleles that are not tested may default to a UGT1A1*1 assignment and hence contribute to the frequencies reported for this allele. Therefore, the inferred frequency for UGT1A1*1 was calculated as an average from studies describing allele frequencies for the most common alleles found in a particular biogeographical group.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	415	\N	https://cpicpgx.org/gene/ugt1a1/	\N	Nucleotide changes from the UGT nomenclature page: https://www.pharmacogenomics.pha.ulaval.ca/wp-content/uploads/2015/04/UGT1A1-allele-nomenclature.html	f	f
CYP2C9	chr10	NG_008385.2	NP_000762.2	NC_000010.11	NM_000069.2	HGNC:2623	1559	ENSG00000138109	PA126	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to July 2019). The following criteria were used for CYP2C9: (CYP2C9 or 2C9 or cytochrome P4502C9) AND (genotype OR allele OR frequency OR minor allele OR variant OR ethnic OR race OR racial OR ethnicity OR population) with filter limits set to retrieve "full-text" and "English" literature. In addition, reports were also identified from citations by others or review articles. Studies were considered for inclusion in the CYP2C9 frequency table if: (1) the ethnicity of the population was clearly indicated, (2) either allele frequencies or genotype frequencies were reported, (3) the method by which the genes were genotyped was indicated, (4) the sample population consisted of at least 50 individuals with a few exceptions (e.g., smaller cohorts that were part of larger studies) and (5) the study represented an original publication (no reviews or meta-analyses). Allele frequencies reported in and gnomD browser and phase 3 1000 Genomes were also included (https://gnomad.broadinstitute.org/, http://browser.1000genomes.org/index.html) for alleles that contain single unique variant.\n\nDiplotype and Phenotype Calculations. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies.\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because *1 is not genotyped directly in many studies, all alleles that are negative for a sequence variation are defaulted to a *1 assignment. Because CYP2C9*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a CYP2C9*1 assignment. Likewise, sequence variations of alleles that are not tested may default to a CYP2C9*1 assignment and hence contribute to the frequencies reported for this allele. Therefore, the inferred frequency for CYP2C9*1 was calculated as an average from studies describing allele frequencies for the most common alleles found in a particular biogeographical group.\n\nDiplotype/Phenotype frequency estimates. When calculating diplotype frequencies from these allele frequencies, the margin of error is compounded based on the margin of error on each allele in the diplotype. So, the margin of error will necessarily increase for diplotype frequency estimates compared to allele frequency estimates. For allele frequencies with already large margins of error due to small and non-random sampling, the diplotype margin of error could potentially be quite large. On the other hand, for well-studied alleles, the margin of error is likely low.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	ACTIVITY_SCORE	426	CYP2C9 diplotype to phenotype translation is not applicable to the warfarin guideline.	https://cpicpgx.org/gene/cyp2c9/	Methods:\nThe PubMed and PharmGKB databases were searched for the following keywords: (CYP2C9 OR cytochrome p450 2c9)AND [genomic identifiers (e.g. dbSNP rs number, star alleles, additional common names)] AND English [Language]. Study inclusion criteria included publications that incorporated analyses for the association between CYP2C9 genotype and drug pharmacokinetic parameters, clinical outcomes, or allele function.	Legacy Name/Class	t	t
VDR	chr12	NG_008731	NP_000367	\N	\N	HGNC:12679	7421	ENSG00000111424	PA37301	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
CYP2D6	chr22	NG_008376.4	NP_000097.3	NC_000022.11	NM_000069.2	HGNC:2625	1565	ENSG00000100197	PA128	Methods:\n\nThe CYP2D6 allele frequency tables (CYP2D6 frequency table; link to PharmGKB) are updates of those previously published in CPIC guidelines (PMID: 25974703, 24458010). Updates to the CYP2D6 allele frequency tables were made by searching the PubMed® database (1995 to 2018). The following criteria were used for CYP2D6: (CYP2D6 or 2D6 or cytochrome P4502D6) AND (genotype OR allele OR frequency OR minor allele OR variant OR ethnic OR race OR racial OR ethnicity) with filter limits set to retrieve "full-text" and "English" literature. In addition, reports were also identified from citations by others or review articles. Studies were considered for inclusion in the CYP2D6 frequency table if: (1) the ethnicity of the population was clearly indicated, (2) either allele frequencies or genotype frequencies were reported, (3) the method by which the genes were genotyped was indicated, (4) the sample population consisted of at least 50 individuals with a few exceptions (e.g., smaller cohorts that were part of larger studies) and (5) the study represented an original publication (no reviews or meta-analyses).\nDiplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies. Because the frequencies for each allele are averages from all studies for that population, allele frequencies may not add up to100%. To account for this in diplotype and phenotype frequencies calculations, *1 frequency was calculated as 1 - sum (non *1 allele frequency).\n\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because CYP2D6*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a CYP2D6*1 assignment. Likewise, sequence variations of alleles that are not tested may default to a CYP2D6*1 assignment and hence contribute to the frequencies reported for this allele. Therefore, the inferred frequency for CYP2D6*1 was calculated as an average from studies describing allele frequencies for the most common alleles found in a particular ethnic group.\n\nDiplotype/Phenotype frequency estimates. When calculating diplotype frequencies from these allele frequencies, the margin of error is compounded based on the margin of error on each allele in the diplotype. So, the margin of error will necessarily increase for diplotype frequency estimates compared to allele frequency estimates. For allele frequencies with already large margins of error due to small and non-random sampling, the diplotype margin of error could potentially be quite large. On the other hand, for well-studied alleles, the margin of error is likely low.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.\n\nOverestimation of allele frequencies. CYP2D6*2 is a 'default' assignment and, unless tested and discriminated for CYP2D6*8, *11, *17, *35,*41 and other variants, will default to a CYP2D6*2 assignment. The frequencies shown here may therefore be over-estimated. CYP2D6*10 is a 'default' assignment and, unless tested and discriminated for, CYP2D6*14 and *36 and other variants, will default to a CYP2D6*10 assignment. The frequencies shown here may therefore be over-estimated. CYP2D6*17 is a 'default' assignment and, unless tested and discriminated for, CYP2D6*40 and *58 will default to a CYP2D6*17 assignment. The frequencies shown here may therefore be over-estimated. CYP2D6*41 has not consistently been determined by its defining SNP (2988G>A) across studies; some platforms still use the -1584C>G SNP to discriminate between CYP2D6*2 and *41. This may lead to an overestimation of the CYP2D6*41 frequency, especially in those of African ancestry.\n\nCNV alleles. Many studies do not specify the exact copy number of duplicated alleles found in their study population and instead report the total frequency of observed CNVs as "xN". Where possible, these frequencies have been included in the CNV column for that allele (e.g. *1xN frequencies are included in the *1x2 column, *4xN frequencies are included in the *4x2 column). Users should be aware that this will lead to an overestimation of the frequency of that exact copy number in the population.	ACTIVITY_SCORE	421	\N	https://cpicpgx.org/gene/cyp2d6/	\N	Legacy Name/Class	t	t
HLA-B	chr6	NG_002397	NP_005505	\N	\N	HGNC:4932	3106	ENSG00000234745	PA35056	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to September 2019). The following criteria were used for HLA-B: (HLA-B) AND (allele OR frequency). In addition, reports were also identified from citations by others or review articles. Studies were considered for inclusion in the HLA-B frequency table if: (1) the ethnicity of the population was clearly indicated, (2) either allele frequencies or genotype frequencies were reported, (3) the method by which the genes were genotyped was indicated, (4) the sample population consisted of at least 50 individuals with a few exceptions (e.g., smaller cohorts that were part of larger studies) and (5) the study represented an original publication (no reviews or meta-analyses). Allele frequencies reported in phase 3 1000 Genomes (http://browser.1000genomes.org/index.html) and from allelefrequencies.net (https://www.allelefrequencies.net) were also included .\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	ALLELE_STATUS	211	\N	https://cpicpgx.org/gene/hla/	\N	\N	f	f
COMT	chr22	NG_011526	NP_000745	\N	\N	HGNC:2228	1312	ENSG00000093010	PA117	\N	PHENOTYPE	101	\N	https://cpicpgx.org/gene/comt/	\N	\N	t	t
CYP2C8	chr10	NG_007972	NP_000761	\N	\N	HGNC:2622	1558	ENSG00000138115	PA125	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
CYP3A4	chr7	NG_000004	NP_059488	\N	\N	HGNC:2637	1576	ENSG00000160868	PA130	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
EPHX1	chr1	NG_009776	NP_000111	\N	\N	HGNC:3401	2052	ENSG00000143819	PA27829	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
GGCX	chr2	NG_011811	NP_000812	\N	\N	HGNC:4247	2677	ENSG00000115486	PA28660	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
GP1BA	chr17	NG_008767	NP_000164	\N	\N	HGNC:4439	2811	ENSG00000185245	PA178	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
GSTP1	chr11	NG_012075	NP_000843	\N	\N	HGNC:4638	2950	ENSG00000084207	PA29028	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
HTR2A	chr13	NG_013011	NP_000612	\N	\N	HGNC:5293	3356	ENSG00000102468	PA193	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
MTHFR	chr1	NG_013351	NP_005948	\N	\N	HGNC:7436	4524	ENSG00000177000	PA245	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
NQO1	chr16	NG_011504	NP_000894	\N	\N	HGNC:2874	1728	ENSG00000181019	PA31744	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
PROC	chr2	NG_016323	NP_000303	\N	\N	HGNC:9451	5624	ENSG00000115718	PA33799	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
PROS1	chr3	NG_009813	NP_000304	\N	\N	HGNC:9456	5627	ENSG00000184500	PA33809	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
SCN1A	chr2	NG_011906	NP_008851	\N	\N	HGNC:10585	6323	ENSG00000144285	PA301	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
SLC6A4	chr17	NG_011747	NP_001036	\N	\N	HGNC:11050	6532	ENSG00000108576	PA312	\N	PHENOTYPE	107	\N	\N	\N	\N	t	t
CYP3A5	chr7	NG_007938.2	NP_000768.1	NC_000007.14	NM_000069.2	HGNC:2638	1577	ENSG00000106258	PA131	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to 2014).\n\nDiplotype and Phenotype Calculations. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies.\n\nCaveats to estimated allele frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because *1 is not genotyped directly in many studies, all alleles that are negative for a sequence variation are defaulted to a *1 assignment. Because CYP3A5*1 is not genotyped directly, all alleles that are negative for a sequence variation are defaulted to a CYP3A5*1 assignment. Likewise, sequence variations of alleles that are not tested may default to a CYP3A5*1 assignment and hence contribute to the frequencies reported for this allele. Therefore, the inferred frequency for CYP3A5*1 was calculated as an average from studies describing allele frequencies for the most common alleles found in a particular biogeographical group.\n\nDiplotype/Phenotype frequency estimates. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies. When calculating diplotype frequencies from these allele frequencies, the margin of error is compounded based on the margin of error on each allele in the diplotype. So, the margin of error will necessarily increase for diplotype frequency estimates compared to allele frequency estimates. For allele frequencies with already large margins of error due to small and non-random sampling, the diplotype margin of error could potentially be quite large. On the other hand, for well-studied alleles, the margin of error is likely low.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.\n	PHENOTYPE	420	\N	https://cpicpgx.org/gene/cyp3a5/	\N	Legacy Name/Class	t	t
SLCO1B1	chr12	NG_011745.1	NP_006437.3	NC_000012.12	NM_000540.2	HGNC:10959	10599	ENSG00000134538	PA134865839	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to 2021).\n\nCaveats to estimated allele frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	413	\N	https://cpicpgx.org/gene/slco1b1/	\N	Common name	t	t
CYP2C19	chr10	NG_008384.3	NP_000760.1	NC_000010.11	NM_000069.2	HGNC:2621	1557	ENSG00000165841	PA124	Methods:\nThe CYP2C19 frequency table includes updates of those previously published in CPIC guidelines. Updates to the CYP2C19 frequency tables were made by searching the PubMed® database (1995 to 2015). The following criteria were used for CYP2C19: (CYP2C19 or 2C19 or cytochrome P4502C19) AND (genotype OR allele OR frequency OR minor allele OR variant OR ethnic OR race OR racial OR ethnicity) with filter limits set to retrieve "full-text" and "English" literature. In addition, reports were also identified from citations by others or review articles. Studies were considered for inclusion in the CYP2C19 frequency table if: (1) the ethnicity of the population was clearly indicated, (2) either allele frequencies or genotype frequencies were reported, (3) the method by which the genes were genotyped was indicated, (4) the sample population consisted of at least 50 individuals with a few exceptions (e.g., smaller cohorts that were part of larger studies) and (5) the study represented an original publication (no reviews or meta-analyses). Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies.\n\nDiplotype and Phenotype Calculations. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies.\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because *1 is not genotyped directly in many studies, all alleles that are negative for a sequence variation are defaulted to a *1 assignment. The inferred frequency for *1 is estimated as: 100 - (sum of averaged variant allele frequencies). For genes where many alleles are not tested for in any population, and frequency of 'common' alleles is not well documented in many understudied populations (Oceanian, Central/South Asian, Latino), the *1 frequency will deviate even more from true values.\n\nDiplotype/Phenotype frequency estimates. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies. When calculating diplotype frequencies from these allele frequencies, the margin of error is compounded based on the margin of error on each allele in the diplotype. So, the margin of error will necessarily increase for diplotype frequency estimates compared to allele frequency estimates. For allele frequencies with already large margins of error due to small and non-random sampling, the diplotype margin of error could potentially be quite large. On the other hand, for well-studied alleles, the margin of error is likely low.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	424	\N	https://cpicpgx.org/gene/cyp2c19/	\N	Legacy Name/Class	t	t
IFNL3	chr19	NG_042193.1	NP_000101.2	NC_000019.10	NM_001042351.2	HGNC:18365	282617	ENSG00000197110	PA134952671	\N	ALLELE_STATUS	222	\N	https://cpicpgx.org/gene/ifnl/	\N	Common Name	t	t
G6PD	chrX	NG_009015.2	NP_000101.2	NC_000023.11	NM_001042351.2	HGNC:4057	2539	ENSG00000160211	PA28469	Methods\n\nThe allele frequency table was made by searching the gnomAD database.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n	PHENOTYPE	369	\N	https://cpicpgx.org/gene/g6pd/	\N	Legacy Name/Class	f	f
TPMT	chr6	NG_012137.2	NP_000358.1	NC_000006.12	NM_000540.2	HGNC:12014	7172	ENSG00000137364	PA356	The allele frequency table was made by searching the PubMed® database (no start date to 1/2018). Allele frequencies reported in the gnomAD browser (http://gnomad.broadinstitute.org/ - exomes and genomes) and ensembl (grch37.ensembl.org - exomes or genomes) were also included. URLs are included in the "PMID" column.\n\nDiplotype and Phenotype Calculations. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies.\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because *1 is not genotyped directly in many studies, all alleles that are negative for a sequence variation are defaulted to a *1 assignment. The inferred frequency for *1 is estimated as: 100 - (sum of averaged variant allele frequencies). For genes where many alleles are not tested for in any population, and frequency of 'common' alleles is not well documented in many understudied populations (Oceania, South Asian, Latino), the *1 frequency will deviate even more from true values.\n\nDiplotype/Phenotype frequency estimates. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies. When calculating diplotype frequencies from these allele frequencies, the margin of error is compounded based on the margin of error on each allele in the diplotype. So, the margin of error will necessarily increase for diplotype frequency estimates compared to allele frequency estimates. For allele frequencies with already large margins of error due to small and non-random sampling, the diplotype margin of error could potentially be quite large. On the other hand, for well-studied alleles, the margin of error is likely low.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	413	\N	https://cpicpgx.org/gene/tpmt/	\N	Nucleotide change on cDNA from https://liu.se/en/research/tpmt-nomenclature-committee	t	t
CYP2B6	chr19	NG_007929.1	NP_000758.1	NC_000019.10	NM_000069.2	HGNC:2615	1555	ENSG00000197408	PA123	Methods\n\nThe allele frequency table was made by searching the PubMed® database (no start date to May 2018). Studies were considered for inclusion in the CYP2B6 Frequency Table if (1) the ethnicity of the population was clearly indicated; (2) either allele frequencies or genotype frequencies were reported; and (3) the method by which genes were genotyped was indicated. Allele frequencies reported in the gnomAD browser (http://gnomad.broadinstitute.org/ - exomes and genomes) and 1000 Genomes Project phase 3 data on Ensemble browser (https://uswest.ensembl.org/index.html) were also included.\n\nDiplotype and Phenotype Calculations. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies.\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. Studies were included in the frequency calculation regardless of number. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nEstimation of *1 frequency. In general, there are no population studies that test for all known variant alleles. Because *1 is not genotyped directly in many studies, all alleles that are negative for a sequence variation are defaulted to a *1 assignment. The inferred frequency for *1 is estimated as: 1 - (sum of averaged variant allele frequencies). For genes where many alleles are not tested for in any population, and frequency of 'common' alleles is not well documented in many understudied populations (Oceania, Middle eastern, South Asian, Latino), the *1 frequency will deviate even more from true values.\n\nDiplotype/Phenotype frequency estimates. Diplotype and phenotype frequencies were estimated using the equation describing Hardy Weinberg equilibrium based on reported allele frequencies. When calculating diplotype frequencies from these allele frequencies, the margin of error is compounded based on the margin of error on each allele in the diplotype. So, the margin of error will necessarily increase for diplotype frequency estimates compared to allele frequency estimates. For allele frequencies with already large margins of error due to small and non-random sampling, the diplotype margin of error could potentially be quite large. On the other hand, for well-studied alleles, the margin of error is likely low.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	425	\N	https://cpicpgx.org/gene/cyp2b6/	\N	Legacy Name/Class	t	t
CACNA1S	chr1	NG_009816.1	NP_000060.2	NC_000001.11	NM_000069.2	HGNC:1397	779	ENSG00000081248	PA85	Methods\n\nThe allele frequency table was made by searching the Genome Aggregation Database (gnomAD) by each rsID\n\nCaveats to estimated allele, frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details, including the definitions of each group, can be found at https://www.pharmgkb.org/page/biogeographicalGroups. We strongly recommend that users use either the publication or the PharmGKB link provided to familiarize themselves with the grouping system before using these allele frequencies. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	426	\N	https://cpicpgx.org/gene/cacna1s/	\N	\N	f	f
VKORC1	chr16	NG_011564.1	NP_076869.1	NC_000016.10	NM_000540.2	HGNC:23663	79001	ENSG00000167397	PA133787052	Methods\n\nThe allele frequency table was made by searching the PubMed® database (1995 to 2016). Allele frequencies reported in phase 3 1000 Genomes were also included (http://browser.1000genomes.org/index.html).\n\nCaveats to estimated allele, diplotype and phenotype frequencies:\n\nSampling. Allele frequencies collected by CPIC for the supplemental tables are based on published literature reports which typically study small groups of people based on a geographic location (e.g. Malaysia, Berlin, Cairo). Almost no studies use genetic markers to estimate ancestry. Manuscripts are often focused on a specific phenotype (e.g. disease) or study only individuals taking a particular drug. Such samples would not be considered a random sample of the general population. Another consideration is that sample size is important, and PGx studies are typically not large. The frequencies collected from these studies are then used to estimate general estimates of entire ethnic population allele frequencies. Therefore, frequencies from larger groups of subjects and frequencies averaged from many sample populations probably result in better estimates.\n\nBiogeographical groups. Biogeographical groups are derived from PMID 30506572. Further details can be found at https://www.pharmgkb.org/page/biogeographicalGroups. These tables group individuals from particular geographic locations into larger biogeographical groups. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when different subpopulations are grouped together.	PHENOTYPE	325	VKORC1 diplotype to phenotype translation is not applicable to the warfarin guideline.	https://cpicpgx.org/gene/vkorc1/	\N	Common Name	f	f
\.


--
-- Data for Name: gene_result; Type: TABLE DATA; Schema: cpic; Owner: -
--

COPY cpic.gene_result (id, genesymbol, result, activityscore, ehrpriority, consultationtext, version, frequency) FROM stdin;
7488462	CYP2D6	Indeterminate	n/a	none	This result signifies that the patient has an allele combination with uncertain and/or unknown function alleles. The expected phenotype for this patient cannot be determined currently based on the CYP2D6 diplotype result. Please consult a clinical pharmacist for more specific information about how CYP2D6 function influences drug dosing.	3	{"Latino": 0.041558996, "American": 0.02454997, "European": 0.03725156, "Oceanian": 0.087338224, "East Asian": 0.066782884, "Near Eastern": 0.03744279, "Central/South Asian": 0.09993659, "Sub-Saharan African": 0.09009597, "African American/Afro-Caribbean": 0.038868744}
7500583	CYP3A5	Indeterminate	n/a	none	This result signifies that the patient has an allele combination with uncertain and/or unknown function alleles. The expected phenotype for this patient cannot be determined currently based on the CYP3A5 diplotype result. Please consult a clinical pharmacist for more specific information about how CYP3A5 function influences drug dosing.	3	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7500571	CYP3A5	Poor Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of a no function allele. Patients with this genotype are expected to require standard tacrolimus dosing. Please consult a clinical pharmacist for more specific dosing information.	3	{"Latino": 0.68427247, "European": 0.85728335, "East Asian": 0.5571847, "Near Eastern": 0.770986, "Central/South Asian": 0.45330563, "Sub-Saharan African": 0.2710154, "African American/Afro-Caribbean": 0.2993679}
7523780	NUDT15	Normal Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of a normal function allele OR one copy of a normal function allele and one copy of a decreased function allele. Based on the genotype result this patient is predicted to be a NUDT15 normal metabolizer. There is no reason to selectively adjust the dose of most medications that are metabolized by NUDT15. Please consult a clinical pharmacist for more information about how NUDT15 metabolic status influences drug selection and dosing.	3	{"Latino": 0.94649667, "European": 0.98632336, "East Asian": 0.8551724, "Central/South Asian": 0.8657786}
7473438	CFTR	ivacaftor responsive in CF patients	n/a	\N	\N	1	\N
7478900	CFTR	ivacaftor non-responsive in CF patients	n/a	\N	\N	1	\N
7473424	ABCG2	Normal Function	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of a normal function allele. Based on the genotype result, this patient is predicted to have normal ABCG2 function. This means that there is no reason to adjust the dose of most medications that are affected by ABCG2 on the basis of ABCG2 genetic status. Please consult a clinical pharmacist for more specific information about how ABCG2 function influences drug dosing.	3	{"Latino": 0.6015554, "American": 0.64000005, "European": 0.8035329, "Oceanian": 0.63246274, "East Asian": 0.4801104, "Near Eastern": 0.87366414, "Central/South Asian": 0.8222862, "Sub-Saharan African": 0.9883421, "African American/Afro-Caribbean": 0.9314832}
7479353	CYP2B6	Indeterminate	n/a	none	This result signifies that the patient has an allele combination with uncertain and/or unknown function alleles. The expected phenotype for this patient cannot be determined currently based on the CYP2B6 diplotype result. Please consult a clinical pharmacist for more specific information about how CYP2B6 function influences drug dosing.	3	{"Latino": 0.013596146, "European": 0.06145065, "Oceanian": 0.0, "East Asian": 0.020025712, "Near Eastern": 0.0, "Central/South Asian": 0.014973663, "Sub-Saharan African": 0.25210795, "African American/Afro-Caribbean": 0.031204166}
7481466	CYP2C9	Indeterminate	n/a	none	This result signifies that the patient has an allele combination with uncertain and/or unknown function alleles. The expected phenotype for this patient cannot be determined currently based on the CYP2C9 diplotype result. Please consult a clinical pharmacist for more specific information about how CYP2C9 function influences drug dosing.	3	{"Latino": 0.0009997501, "American": 0.0, "European": 0.00059991, "Oceanian": 0.0, "East Asian": 0.0046076896, "Near Eastern": 0.0, "Central/South Asian": 0.0037963898, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7504183	G6PD	Deficient	n/a	Abnormal/Priority/High Risk	Based on the genotype result, this patient is predicted to be G6PD deficient and is at risk for developing hemolytic anemia when exposed to certain medications (such as dapsone, methylene blue, pegloticase, primaquine (at certain doses), rasburicase, tafenoquine, toluidine blue) or foods (such as fava beans). Please consult a clinical pharmacist for more information.	2	\N
7521971	MT-RNR1	normal risk of aminoglycoside-induced hearing loss	n/a	Normal/Routine/Low Risk	This result signifies that MT-RNR1 variants associated with aminoglycoside-induced hearing loss were not detected in this patient. Based on this genotype result, no change in aminoglycoside therapy is warranted. It should be noted that this result does not absolutely rule out the possibility of the patient developing ototoxicity with aminoglycoside use.	2	\N
7522905	NAT2	Indeterminate	n/a	none	This result signifies that the patient has inhertied an allele combination with uncertain and/or unknown function alleles. The expected phenotype for this patient cannot be determined currently based on the NAT2 diplotype result. Please consult a clinical pharmacist for more specific information about how NAT2 function influences drug dosing.	2	\N
7583997	UGT1A1	Intermediate Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has one copy of a normal function allele (*1) OR one copy of an increased function allele (*36), AND and one copy of a decreased function allele (*_). Based on the genotype result this patient is predicted to be an intermediate metabolizer of UGT1A1 substrates. There is no reason to selectively adjust the dose of most medications that inhibit or are inactivated by UGT1A1. Please consult a clinical pharmacist for more information about how UGT1A1 metabolic status influences drug selection and dosing.	2	\N
7484144	CYP2D6	Normal Metabolizer	2.0	Normal/Routine/ Low Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be a normal metabolizer of CYP2D6 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.42007107, "American": 0.57988566, "European": 0.32166475, "Oceanian": 0.48931405, "East Asian": 0.1527359, "Near Eastern": 0.2670007, "Central/South Asian": 0.34187043, "Sub-Saharan African": 0.15406683, "African American/Afro-Caribbean": 0.22171879}
7473427	CACNA1S	Malignant Hyperthermia Susceptibility	n/a	Abnormal/Priority/High Risk	This result signifies that this patient has one copy of a variant [variant] associated with malignant hyperthermia susceptibility. Halogenated volatile anesthetics or depolarizing muscle relaxants are relatively contraindicated in persons with MHS. They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. Please consult a MHS specialist or contact MHAUS (https://www.mhaus.org/healthcare-professionals/) for further information.	2	\N
7473435	CACNA1S	Uncertain Susceptibility	n/a	Normal Risk	Variation in RYR1 and/or CACNA1S genes is associated with increased risk of Malignant hyperthermia after administration of depolarizing muscle relaxants and potent volatile anesthetics. Although listed causative CACNA1S variants were NOT detected in this patient, it should be noted that this finding does not absolutely rule out the possibility of malignant hyperthermia. These results should be interpreted in the context of other genetic and clinical findings, family history and other laboratory data.	2	\N
7478914	CYP2B6	Normal Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of normal function alleles. Based on the genotype result this patient is predicted to be an normal metabolizer of CYP2B6 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2B6. Please consult a clinical pharmacist for more information about how CYP2B6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.33582056, "European": 0.42950228, "Oceanian": 0.12960002, "East Asian": 0.48562673, "Near Eastern": 0.29052103, "Central/South Asian": 0.42183065, "Sub-Saharan African": 0.14307445, "African American/Afro-Caribbean": 0.333572}
7478906	CYP2B6	Rapid Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has one copy of a normal function allele and one copy of an increased function allele. Based on the genotype result this patient is predicted to be a rapid metabolizer of CYP2B6 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2B6. Please consult a clinical pharmacist for more information about how CYP2B6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.1231214, "European": 0.05357082, "Oceanian": 0.0, "East Asian": 0.11734093, "Near Eastern": 0.112112, "Central/South Asian": 0.12859802, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.011896482}
7478903	CYP2B6	Ultrarapid Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of increased function alleles. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2B6 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2B6. Please consult a clinical pharmacist for more information about how CYP2B6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.011284955, "European": 0.0016704409, "Oceanian": 0.0, "East Asian": 0.007088209, "Near Eastern": 0.010816, "Central/South Asian": 0.009801, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.000106068765}
7480215	CYP2C19	Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a no function allele OR one copy of an increased function and one copy of a no function allele. Based on the genotype result this patient is predicted to be an intermediate metabolizer of CYP2C19 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2C19. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by CYP2C19. Please consult a clinical pharmacist for more information about how CYP2C19 metabolic status influences drug selection and dosing.	3	{"Latino": 0.19035932, "American": 0.21383229, "European": 0.26108757, "Oceanian": 0.36902928, "East Asian": 0.45928204, "Near Eastern": 0.2354828, "Central/South Asian": 0.40806636, "Sub-Saharan African": 0.29945874, "African American/Afro-Caribbean": 0.31398684}
7480142	CYP2C19	Likely Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a decreased function allele OR one copy of an increased function allele and one copy of a decreased function allele OR two copies of a decreased function allele. Based on the genotype result this patient MAY be an intermediate metabolizer of CYP2C19 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2C19. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by CYP2C19. Please consult a clinical pharmacist for more information about how CYP2C19 metabolic status influences drug selection and dosing.	3	{"Latino": 0.003709162, "American": 0.0, "European": 0.0011160374, "Oceanian": 0.0, "East Asian": 0.00076989824, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.042863965, "African American/Afro-Caribbean": 0.027788177}
7480314	CYP2C19	Likely Poor Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a decreased function allele and one copy of a no function allele. Based on the genotype result this patient MAY be a poor metabolizer of CYP2C19 substrates. This patient may be at a high risk for an adverse or poor response to medications that are metabolized by CYP2C19. To avoid an untoward drug response, dose adjustments or or alternative therapy may be necessary for medications metabolized by the CYP2C19. Please consult a clinical pharmacist for more information about how CYP2C19 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0004440685, "American": 0.0, "European": 0.00020405183, "Oceanian": 0.0, "East Asian": 0.0004349198, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.010332189, "African American/Afro-Caribbean": 0.007090685}
7483665	CYP2D6	Ultrarapid Metabolizer	≥5.0	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.000055729302, "American": 0.00006450697, "European": 0.000058472542, "Oceanian": 0.0, "East Asian": 0.000015887783, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.00025361063, "African American/Afro-Caribbean": 0.0}
7483683	CYP2D6	Ultrarapid Metabolizer	≥4.0	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0012809848, "American": 0.0015109289, "European": 0.0018874556, "Oceanian": 0.0, "East Asian": 0.0007779561, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0038317435, "African American/Afro-Caribbean": 0.0}
7483679	CYP2D6	Ultrarapid Metabolizer	≥3.75	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7480100	CYP2C19	Ultrarapid Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of an increased function allele. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2C19 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2C19. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by CYP2C19. Please consult a clinical pharmacist for more information about how CYP2C19 metabolic status influences drug selection and dosing.	3	{"Latino": 0.02774172, "American": 0.0074097984, "European": 0.04641379, "Oceanian": 0.003249, "East Asian": 0.00042194634, "Near Eastern": 0.036642652, "Central/South Asian": 0.029163336, "Sub-Saharan African": 0.030045323, "African American/Afro-Caribbean": 0.042943195}
7480789	CYP2C9	Normal Metabolizer	2.0	Normal/Routine/Low Risk	This result signifies that the patient has two copies of a normal function allele. Based on the genotype result, this patient is predicted to be a CYP2C9 Normal metabolizer. Based only on the CYP2C9 genotype, there is no reason to adjust the dose of most medications that are affected by CYP2C9. Please consult a clinical pharmacist for more specific information about how CYP2C9 function influences drug dosing.	3	{"Latino": 0.74342215, "American": 0.83149743, "European": 0.62845254, "Oceanian": 0.9122409, "East Asian": 0.8378542, "Near Eastern": 0.61125296, "Central/South Asian": 0.5961676, "Sub-Saharan African": 0.73114437, "African American/Afro-Caribbean": 0.75866354}
7480794	CYP2C9	Intermediate Metabolizer	1.5	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a decreased function allele. Based on the genotype result, this patient is predicted to be a CYP2C9 intermediate metabolizer (activity score of 1.5). This patient may be at risk for an adverse response to medications that are affected by CYP2C9. Please consult a clinical pharmacist for more specific information about how CYP2C9 intermediate metabolizer status influences drug dosing.	3	{"Latino": 0.1647683, "American": 0.10592343, "European": 0.20758142, "Oceanian": 0.05599055, "East Asian": 0.052658077, "Near Eastern": 0.2097067, "Central/South Asian": 0.17885593, "Sub-Saharan African": 0.21372117, "African American/Afro-Caribbean": 0.1863267}
7481373	CYP2C9	Poor Metabolizer	0.0	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of no function alleles. Based on the genotype result, this patient is predicted to be a CYP2C9 poor metabolizer. This patient may be at high risk for an adverse response to medications that are affected by CYP2C9. Please consult a clinical pharmacist for more specific information about how CYP2C9 intermediate metabolizer status influences drug dosing.	3	{"Latino": 0.0017415384, "American": 0.00090327376, "European": 0.0057798154, "Oceanian": 0.00024261088, "East Asian": 0.0028714235, "Near Eastern": 0.007066085, "Central/South Asian": 0.012135133, "Sub-Saharan African": 0.0003982905, "African American/Afro-Caribbean": 0.00048520204}
7500579	CYP3A5	Possible Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of an uncertain or unknown function allele. Patients with this genotype are expected to require higher starting tacrolimus dosing (1.5 times to 2 times the standard dose-maximum starting dose not to exceed 0.3mg/kg/day). Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors (e.g., medication interactions, or hepatic function). Please consult a clinical pharmacist for more specific dosing information.	3	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7483769	CYP2D6	Ultrarapid Metabolizer	≥3.0	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.00035315607, "American": 0.0002839765, "European": 0.0008605249, "Oceanian": 0.0, "East Asian": 0.00018026348, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001428226, "African American/Afro-Caribbean": 0.0}
7483898	CYP2D6	Ultrarapid Metabolizer	3.0	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.035694193, "American": 0.048732717, "European": 0.019382542, "Oceanian": 0.16405001, "East Asian": 0.006179998, "Near Eastern": 0.06435209, "Central/South Asian": 0.014773737, "Sub-Saharan African": 0.019435417, "African American/Afro-Caribbean": 0.025694855}
7483890	CYP2D6	Ultrarapid Metabolizer	2.75	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7484076	CYP2D6	Normal Metabolizer	2.25	Normal/Routine/ Low Risk	This result signifies that this patient has two copies of a normal function allele (*_x2) and one copy of decreased function allele with an activity value of 0.25 (*_). Based on the genotype result this patient is predicted to be a normal metabolizer of CYP2D6 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.005172111, "American": 0.0031386076, "European": 0.004804125, "Oceanian": 0.021296859, "East Asian": 0.0072455397, "Near Eastern": 0.029094387, "Central/South Asian": 0.005050826, "Sub-Saharan African": 0.0048336256, "African American/Afro-Caribbean": 0.004428509}
7484437	CYP2D6	Normal Metabolizer	1.75	Normal/Routine/ Low Risk	This result signifies that this patient has three copies of *41 (*41x3) and one copy of a normal function allele (*_) or [2 copies of a decreased function allele with an activity value of 0.5 (*_x2)]. Based on the genotype result this patient is predicted to be a normal metabolizer of CYP2D6 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7484434	CYP2D6	Normal Metabolizer	1.5	Normal/Routine/ Low Risk	This result signifies that this patient has [1 copy of a normal function allele (*_)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be a normal metabolizer of CYP2D6 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.051568672, "American": 0.012521543, "European": 0.010339902, "Oceanian": 0.00143701, "East Asian": 0.017062929, "Near Eastern": 0.045171212, "Central/South Asian": 0.0029989334, "Sub-Saharan African": 0.23161727, "African American/Afro-Caribbean": 0.23827769}
7484470	CYP2D6	Intermediate Metabolizer	1.0	Abnormal/Priority/High Risk	This result signifies that this patient has [1 copy of a normal function allele (*_)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an intermediate metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.2278144, "American": 0.21460281, "European": 0.28533316, "Oceanian": 0.077126324, "East Asian": 0.070599586, "Near Eastern": 0.14959782, "Central/South Asian": 0.17827679, "Sub-Saharan African": 0.20079781, "African American/Afro-Caribbean": 0.2080644}
7500595	DPYD	Normal Metabolizer	2.0	Normal/Routine/Low Risk	This result signifies that the patient has two copies of normal function DPYD alleles. Based on the genotype result this patient is predicted to be DPYD Normal Metabolizer with a DPYD activity score of 2. For this genotype, no selective dose adjustment is indicated for medications that are metabolized by DPD. Please consult a clinical pharmacist for more information about how DPD metabolic status influences drug selection and dosing.	2	\N
7502193	DPYD	Intermediate Metabolizer	1.5	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a decreased function allele of the DPYD gene. Based on the genotype result this patient is predicted to be a DPYD Intermediate Metabolizer with a DPYD activity score of 1.5. This patient may be at risk for adverse drug reactions to medications that are metabolized by DPD (i.e. 5-fluorouracil, capecitabine, and tegafur) and a dose adjustment may be indicated. Please consult a clinical pharmacist for more information about how DPD metabolic status influences drug selection and dosing.	2	\N
7502587	DPYD	Intermediate Metabolizer	1.0	Abnormal/Priority/High Risk	This result signifies that the patient has either one copy of a normal function allele and one copy of a no function allele of the DPYD gene OR two copies of decreased function alleles of the DPYD gene. Based on the genotype result this patient is predicted to be a DPYD Intermediate Metabolizer with a DPYD activity score of 1. This patient may be at risk for adverse drug reactions to medications that are metabolized by DPD (i.e. 5-fluorouracil, capecitabine, and tegafur) and a dose adjustment may be indicated. Please consult a clinical pharmacist for more information about how DPD metabolic status influences drug selection and dosing.	2	\N
7503794	DPYD	Poor Metabolizer	0.5	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a decreased function allele and one copy of a no function allele of the DPYD gene. Based on the genotype result this patient is predicted to be a DPYD Poor Metabolizer with a DPYD activity score of 0.5. This patient may be at risk for adverse drug reactions to medications that are metabolized by DPD (i.e. 5-fluorouracil, capecitabine, and tegafur) and a dose adjustment or alternative therapeutic agents may be indicated. Please consult a clinical pharmacist for more information about how DPD metabolic status influences drug selection and dosing.	2	\N
7486061	CYP2D6	Intermediate Metabolizer	0.5	Abnormal/Priority/High Risk	This result signifies that this patient has [1 copy of a decreased function allele with an activity value of 0.5 (*_)] or [2 copies of a decreased function allele with an activity value of 0.25 (*_x2)] and one copy of a no function allele (*_) OR two copies for a decreased function allele with an activity value of 0.25 (*_/*_). Based on the genotype result this patient is predicted to be an intermediate metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.022830304, "American": 0.0047207433, "European": 0.023932345, "Oceanian": 0.008138877, "East Asian": 0.21193053, "Near Eastern": 0.06410619, "Central/South Asian": 0.040293686, "Sub-Saharan African": 0.0954133, "African American/Afro-Caribbean": 0.08539959}
7487284	CYP2D6	Poor Metabolizer	0.0	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of a no function allele (*_/*_). Based on the genotype result this patient is predicted to be a poor metabolizer of CYP2D6 substrates. This patient may be at a high risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by the CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0311798, "American": 0.020160662, "European": 0.065024786, "Oceanian": 0.0031239481, "East Asian": 0.008123729, "Near Eastern": 0.021957064, "Central/South Asian": 0.023507897, "Sub-Saharan African": 0.020398295, "African American/Afro-Caribbean": 0.023474354}
7500566	CYP3A5	Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a no function allele. Patients with this genotype are expected to require higher starting tacrolimus dosing (1.5 times to 2 times the standard dose-maximum starting dose not to exceed 0.3mg/kg/day). Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors (e.g., medication interactions, or hepatic function). Please consult a clinical pharmacist for more specific dosing information.	3	{"Latino": 0.28587034, "European": 0.13722531, "East Asian": 0.37852672, "Near Eastern": 0.21414419, "Central/South Asian": 0.43994826, "Sub-Saharan African": 0.499152, "African American/Afro-Caribbean": 0.4955547}
7500563	CYP3A5	Normal Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of a normal function allele. Patients with this genotype are expected to require higher starting tacrolimus dosing (1.5 times to 2 times the standard dose-maximum starting dose not to exceed 0.3mg/kg/day). Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors (e.g., medication interactions, or hepatic function). Please consult a clinical pharmacist for more specific dosing information.	3	{"Latino": 0.029857205, "European": 0.005491413, "East Asian": 0.064288594, "Near Eastern": 0.014869832, "Central/South Asian": 0.106746115, "Sub-Saharan African": 0.22983262, "African American/Afro-Caribbean": 0.20507748}
7503943	DPYD	Poor Metabolizer	0.0	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of no function alleles of the DPYD gene. Based on the genotype result this patient is predicted to be a DPYD Poor Metabolizer with a DPYD activity score of 0. This patient may be at risk for adverse drug reactions to medications that are metabolized by DPD (i.e. 5-fluorouracil, capecitabine, and tegafur) and alternative therapeutic agents may be indicated. Please consult a clinical pharmacist for more information about how DPD metabolic status influences drug selection and dosing.	2	\N
7504276	G6PD	Deficient with CNSHA	n/a	Abnormal/Priority/High Risk	Based on the genotype result, this patient is predicted to be G6PD deficient with CNSHA and is at risk for developing or worsening hemolytic anemia when exposed to certain medications (such as dapsone, methylene blue, pegloticase, primaquine (at certain doses), rasburicase, tafenoquine, toluidine blue) or foods (such as fava beans). Please consult a clinical pharmacist for more information.	2	\N
7520846	G6PD	Indeterminate	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has an allele combination with uncertain and/or unknown function alleles. The expected phenotype for this patient cannot be determined currently based on genotype alone. A G6PD enzyme activity test is recommended to assess for G6PD deficiency. Please consult a clinical pharmacist for more specific information about how G6PD function influences drug dosing.	2	\N
7504176	G6PD	Normal	n/a	Normal Risk	Based on the genotype result, this patient is predicted to have normal G6PD enzyme activity. This means there is no reason to selectively avoid G6PD associated medications based on the G6PD status alone. Please consult a clinical pharmacist for more information.	2	\N
7504380	G6PD	Variable	n/a	Abnormal/Priority/High Risk	This patient carries one copy of a deficient G6PD allele and one copy of a normal G6PD allele. Due to X inactivation, patients who are heterozygous with one deficient allele and one normal allele may exhibit G6PD activity ranging from normal to deficient. A G6PD enzyme activity test is recommended to assess for G6PD deficiency. Please consult a clinical pharmacist for more information.	2	\N
7584049	HLA-A	*31:01 negative	n/a	Routine/Low-Risk	The HLA-A*31:01 allele, which is associated with severe cutaneous adverse reactions among patients taking certain aromatic anticonvulsants, was not detected in this patient. No change in therapy is warranted based on these results. It should be noted that a negative HLA-A*31:01 result does not absolutely rule out the possibility of an adverse drug reaction. Please consult a clinical pharmacist for more information.	1	\N
7584052	HLA-A	*31:01 positive	n/a	Priority/High-Risk	This result signifies that the patient has one or two copies of HLA-A*31:01. Patients with this genotype are at increased risk of severe cutaneous adverse reactions, including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), and maculopapular exanthema (MPE), with certain aromatic anticonvulsants (e.g., carbamazepine). Alternative therapy may be warranted. Please consult a clinical pharmacist for more information.	1	\N
7584055	HLA-B	*15:02 negative	n/a	Routine/Low-Risk	The HLA-B*15:02 allele, which is associated with severe cutaneous adverse reactions among patients taking certain aromatic anticonvulsants, was not detected in this patient. No change in therapy is warranted based on these results. It should be noted that a negative HLA-B*15:02 result does not absolutely rule out the possibility of an adverse drug reaction. Please consult a clinical pharmacist for more information.	1	\N
7584058	HLA-B	*15:02 positive	n/a	Priority/High-Risk	This result signifies that the patient has one or two copies of HLA-B*15:02. Patients with this genotype are at increased risk of severe cutaneous adverse reactions, including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), with certain aromatic anticonvulsants (e.g., carbamazepine, oxcarbazepine, phenytoin/fosphenytoin). Alternative therapy may be warranted. Please consult a clinical pharmacist for more information.	1	\N
7584061	HLA-B	*57:01 negative	n/a	Normal/Routine/Low Risk	The HLA-B*57:01 allele, associated with abacavir hypersensitivity, was not detected in this patient. The patient may be prescribed abacavir. Please refer to the hospital formulary guidelines for specific dosing information. It should be noted that a negative HLA-B*57:01 result does not absolutely rule out the possibility of some form of abacavir hypersensitivity. Administration of abacavir therapy requires close observation including immediate discontinuation of therapy should any signs or symptoms of hypersensitivity develop.	1	\N
7584064	HLA-B	*57:01 positive	n/a	Abnormal/Priority/High Risk	The HLA-B*57:01 allele, associated with abacavir hypersensitivity, was detected in this patient. HLA-B*5701 positive patients should NOT be prescribed abacavir.	1	\N
7584067	HLA-B	*58:01 negative	n/a	Normal/Routine/Low Risk	The HLA-B*58:01 allele, associated with allopurinol hypersensitivity, was not detected in this patient. Allopurinol can be used per standard dosing guidelines. Patients should be monitored closely for any signs of sensitivity reactions, especially those patients receiving allopurinol (of >300 mg/day), concomitant medications (i.e. thiazide diuretics or penicillin/cephalosporin) or with medical conditions (i.e. chronic kidney disease) that increase the non-genetic risk for allopurinol-related hypersensitivity reactions.	1	\N
7584070	HLA-B	*58:01 positive	n/a	Abnormal/Priority/High Risk	The HLA-B*58:01 allele, associated with allopurinol hypersensitivity, was detected in this patient. Allopurinol is contraindicated.	1	\N
7521966	MT-RNR1	increased risk of aminoglycoside-induced hearing loss	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has a copy of the MT-RNR1 [variant]. Based on this genotype result, the patient is predicted to be at increased risk of aminoglycoside-induced hearing loss. This means that the patient is likely to develop irreversible hearing loss if aminoglycosides (e.g. amikacin, gentamicin, tobramycin) are prescribed. Please consult a clinical pharmacist or Infectious Diseases Service for help selecting alternative therapies.	2	\N
7521974	MT-RNR1	uncertain risk of aminoglycoside-induced hearing loss	n/a	Normal/Routine/Low Risk	This result signifies that the patient has a copy of MT-RNR1 [variant]. At this time, the association of this allele with aminoglycoside-induced hearing loss is unknown/uncertain. Based on this genotype result, no change in aminoglycoside therapy is warranted. It should be noted that this result does not absolutely rule out the possibility of the patient developing ototoxicity with aminoglycoside use.	2	\N
7521996	NAT2	Rapid Metabolizer	n/a	Priority/High Risk	This result signifies that the patient has inherited two increased function alleles. Based on the genotype result this patient is predicted to be a rapid metabolizer of NAT2 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by NAT2. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by NAT2. Please consult a clinical pharmacist for more information about how NAT2 metabolic status influences drug selection and dosing.	2	\N
7522001	NAT2	Intermediate Metabolizer	n/a	Priority/High Risk	This result signifies that the patient has inherited one increased function allele and one decreased function allele. Based on the genotype result this patient is predicted to be an intermediate metabolizer of NAT2 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by NAT2. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by NAT2. Please consult a clinical pharmacist for more information about how NAT2 metabolic status influences drug selection and dosing.	2	\N
7522083	NAT2	Poor Metabolizer	n/a	Priority/High Risk	This result signifies that the patient has inherited two decreased function alleles. Based on the genotype result this patient is predicted to be a poor metabolizer of NAT2 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by NAT2. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by NAT2. Please consult a clinical pharmacist for more information about how NAT2 metabolic status influences drug selection and dosing.	2	\N
7555635	RYR1	Malignant Hyperthermia Susceptibility	n/a	Abnormal/Priority/High Risk	This result signifies that this patient has one copy of a variant [variant] associated with malignant hyperthermia susceptibility. Halogenated volatile anesthetics or depolarizing muscle relaxants are relatively contraindicated in persons with MHS. They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. Please consult a MHS specialist or contact MHAUS (https://www.mhaus.org/healthcare-professionals/) for further information.	2	\N
7524005	RYR1	Uncertain Susceptibility	n/a	Normal Risk	Variation in RYR1 and/or CACNA1S genes is associated with increased risk of Malignant hyperthermia after administration of depolarizing muscle relaxants and potent volatile anesthetics. Although listed causative RYR1 variants were NOT detected in this patient, it should be noted that this finding does not absolutely rule out the possibility of malignant hyperthermia. These results should be interpreted in the context of other genetic and clinical findings, family history and other laboratory data.	2	\N
7523786	NUDT15	Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a no function allele OR two copies of a decreased function allele. Based on the genotype result this patient is predicted to be a NUDT15 intermediate metabolizer. This patient may be at risk for an adverse reactions to medications that are metabolized by NUDT15 (eg thiopurines). To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by NUDT15. Please consult a clinical pharmacist for more information about how NUDT15 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0527679, "European": 0.013629507, "East Asian": 0.13750981, "Central/South Asian": 0.12932494}
7523803	NUDT15	Possible Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of an uncertain function allele and one copy of a no function allele. Based on the genotype result this patient is predicted to be a NUDT15 possible intermediate metabolizer. This patient may be at risk for an adverse reactions to medications that are metabolized by NUDT15 (eg thiopurines). To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by NUDT15. Please consult a clinical pharmacist for more information about how NUDT15 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0}
7523871	NUDT15	Poor Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of a no function allele OR one copy of a no function allele and one copy of a decreased function allele. Based on the genotype result this patient is predicted to be a NUDT15 poor metabolizer. This patient may be at a high risk for an adverse reactions to medications that are metabolized by NUDT15 (eg. thiopurines). To avoid an untoward drug response, dose adjustments or or alternative therapy may be necessary for medications metabolized by NUDT15. Please consult a clinical pharmacist for more information about how NUDT15 metabolic status influences drug selection and dosing.	3	{"Latino": 0.00073546247, "European": 0.000047192545, "East Asian": 0.0073177223, "Central/South Asian": 0.004896416}
7581988	SLCO1B1	Decreased Function	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele (*_) and one copy of a no function allele (*_). Based on the genotype result, this patient is predicted to have decreased SLCO1B1 function. This patient may be at risk for an adverse response to medications that are affected by SLCO1B1. To avoid an untoward drug response, dose adjustments may be necessary for medications affected by SLCO1B1 (i.e. statins). Please consult a clinical pharmacist for more specific information about how SLCO1B1 function influences drug dosing.	3	{"American": 0.3648, "European": 0.28296122, "Oceanian": 0.0, "East Asian": 0.21842287, "Near Eastern": 0.32000002, "Central/South Asian": 0.12971397, "Sub-Saharan African": 0.054308295, "African American/Afro-Caribbean": 0.0198}
7582018	SLCO1B1	Indeterminate	n/a	none	This result signifies that the patient has an allele combination with unknown or uncertain function alleles. The expected phenotype for this patient cannot be determined currently based on the SLCO1B1 diplotype result. Please consult a clinical pharmacist for more specific information about how SLCO1B1 function influences drug dosing.	3	{"American": 0.0, "European": 0.001279436, "Oceanian": 0.0, "East Asian": 0.007855513, "Near Eastern": 0.0, "Central/South Asian": 0.0005580649, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7582012	SLCO1B1	Normal Function	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of a normal function allele. Based on the genotype result, this patient is predicted to have normal SLCO1B1 function. This means that there is no reason to adjust the dose of most medications that are affected by SLCO1B1 on the basis of SLCO1B1 genetic status. Please consult a clinical pharmacist for more specific information about how SLCO1B1 function influences drug dosing.	3	{"American": 0.5776, "European": 0.6564144, "Oceanian": 1.0, "East Asian": 0.75683165, "Near Eastern": 0.64000005, "Central/South Asian": 0.8648222, "Sub-Saharan African": 0.94491136, "African American/Afro-Caribbean": 0.98010004}
7584035	UGT1A1	Indeterminate	n/a	none	This result signifies that the patient has an allele combination with uncertain and/or unknown function alleles. The expected phenotype for this patient cannot be determined currently based on the UGT1A1 diplotype result. UGT1A1*80 is in very high linkage disequilibrium with *28 and *37. In the rare event that *80 is detected but *28 and *37 are not, there are not enough clinical data to predict metabolizer status with certainty. However, if only *80 is interrogated and the patient is heterozygous or homozygous for *80, an intermediate or poor metabolizer phenotype may be inferred, respectively. Please consult a clinical pharmacist for more specific information about how UGT1A1 function influences drug dosing.	2	\N
7583990	UGT1A1	Normal Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of a normal function allele (*1) OR one copy of a normal function allele (*1) and one copy of an increased function allele (*36) OR two copies of an increased function allele (*36). Based on the genotype result this patient is predicted to be an normal metabolizer of UGT1A1 substrates. There is no reason to selectively adjust the dose of most medications that inhibit or are inactivated by UGT1A1. Please consult a clinical pharmacist for more information about how UGT1A1 metabolic status influences drug selection and dosing.	2	\N
7584012	UGT1A1	Poor Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of decreased function alleles (*_ and *_). Based on the genotype result this patient is predicted to be a poor metabolizer of UGT1A1 substrates. This patient may be at risk for an adverse or poor response to medications that inhibit or are inactivated by UGT1A1. Based on the genotype result, this patient is predicted to have low UGT1A1 function, which is generally indicative of Gilbert syndrome. This patient may be at high risk for toxicity from select medications that inhibit or are inactivated by UGT1A1. Please consult a clinical pharmacist for more information about how UGT1A1 metabolic status influences drug selection and dosing.	2	\N
7582745	TPMT	Normal Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of a normal function allele OR one copy of a normal function allele and one copy of a decreased function allele. Based on the genotype result this patient is predicted to be a TPMT normal metabolizer. There is no reason to selectively adjust the dose of most medications that are metabolized by TPMT. However, thiopurines can be affected by a patient's TPMT and NUDT15 phenotype. Please consult a clinical pharmacist for more information about how TPMT and NUDT15 metabolic status influences drug selection and dosing.	3	{"Latino": 0.8923553, "European": 0.90923065, "East Asian": 0.9596651, "Near Eastern": 0.93240434, "Central/South Asian": 0.96327126, "Sub-Saharan African": 0.8933782, "African American/Afro-Caribbean": 0.8646596}
7582750	TPMT	Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a no function allele OR two copies of a decreased function allele. Based on the genotype result this patient is predicted to be a TPMT intermediate metabolizer. This patient may be at risk for an adverse reactions to medications that are metabolized by TPMT (eg. thiopurines). To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by TPMT. However, thiopurines can be affected by a patient's TPMT and NUDT15 phenotype. Please consult a clinical pharmacist for more information about how TPMT and NUDT15 metabolic status influences drug selection and dosing.	3	{"Latino": 0.10125442, "European": 0.08729337, "East Asian": 0.039815668, "Near Eastern": 0.06641302, "Central/South Asian": 0.03638162, "Sub-Saharan African": 0.1010342, "African American/Afro-Caribbean": 0.06894094}
7583176	TPMT	Poor Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of a no function allele. Based on the genotype result this patient is predicted to be a TPMT poor metabolizer. This patient may be at a high risk for an adverse reactions to medications that are metabolized by TPMT (eg. thiopurines). To avoid an untoward drug response, dose adjustments or or alternative therapy may be necessary for medications metabolized by TPMT. However, thiopurines can be affected by a patient's TPMT and NUDT15 phenotype. Please consult a clinical pharmacist for more information about how TPMT and NUDT16 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0028794738, "European": 0.0020956735, "East Asian": 0.00041297937, "Near Eastern": 0.0011826118, "Central/South Asian": 0.0003435882, "Sub-Saharan African": 0.002971174, "African American/Afro-Caribbean": 0.0013917874}
7583919	TPMT	Indeterminate	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of an uncertain or unknown function allele OR one copy of a decreased function allele and one copy of an uncertain or unknown function allele OR two copies of an uncertain or unknown function allele. The expected phenotype for this patient cannot be determined currently based on the TPMT diplotype result. Consider evaluating TPMT erythrocyte activity to assess TPMT phenotype. Erythrocyte TPMT activity test results can be falsely low at diagnosis of leukemia and is unreliable in the case of recent red blood cell transfusions. If thiopurines are required and TPMT status is unknown, monitor closely for toxicity. Please consult a clinical pharmacist for more specific information about how TPMT function influences drug dosing.	3	{"Latino": 0.0032013063, "European": 0.0013079308, "East Asian": 0.000104039, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.06207684}
7473421	ABCG2	Decreased Function	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a no decreased allele . Based on the genotype result, this patient is predicted to have decreased ABCG2 function. This patient may be at risk for an adverse response to medications that are affected by ABCG2. To avoid an untoward drug response, dose adjustments may be necessary for medications affected by ABCG2 (i.e. statins). Please consult a clinical pharmacist for more specific information about how ABCG2 function influences drug dosing.	3	{"Latino": 0.34808928, "American": 0.32000002, "European": 0.18573408, "Oceanian": 0.32562497, "East Asian": 0.4255792, "Near Eastern": 0.122071825, "Central/South Asian": 0.1690275, "Sub-Saharan African": 0.011623656, "African American/Afro-Caribbean": 0.06730118}
7473418	ABCG2	Poor Function	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of a decreased function allele. Based on the genotype result, this patient is predicted to have poor ABCG2 function. This patient may be at a high risk for an adverse response to medications that are affected by ABCG2 (i.e. statins). To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications affected by ABCG2. Please consult a clinical pharmacist for more specific information about how ABCG2 function influences drug dosing.	3	{"Latino": 0.05035536, "American": 0.040000003, "European": 0.010732961, "Oceanian": 0.0419122, "East Asian": 0.09431041, "Near Eastern": 0.00426409, "Central/South Asian": 0.00868624, "Sub-Saharan African": 0.000034175762, "African American/Afro-Caribbean": 0.0012156549}
7478937	CYP2B6	Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a no function allele OR one copy of a normal function allele and one copy of a decreased function allele OR one copy of an increased function allele and one copy of a no function allele OR one copy of an increased function allele and one copy of a decreased function allele. Based on the genotype result this patient is predicted to be an intermediate metabolizer of CYP2B6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2B6. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by CYP2B6. Please consult a clinical pharmacist for more information about how CYP2B6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.42165288, "European": 0.37952113, "Oceanian": 0.46080005, "East Asian": 0.32628936, "Near Eastern": 0.459102, "Central/South Asian": 0.36526063, "Sub-Saharan African": 0.36808127, "African American/Afro-Caribbean": 0.4660738}
7479096	CYP2B6	Poor Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of a no function allele OR two copies of a decreased function allele OR one copy of a no function allele and one copy of a decreased function allele. Based on the genotype result this patient is predicted to be a poor metabolizer of CYP2B6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2B6. To avoid an untoward drug response, dose adjustments or or alternative therapy may be necessary for medications metabolized by CYP2B6. Please consult a clinical pharmacist for more information about how CYP2B6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.09452413, "European": 0.07428478, "Oceanian": 0.4096, "East Asian": 0.0436291, "Near Eastern": 0.127449, "Central/South Asian": 0.059536003, "Sub-Saharan African": 0.23673655, "African American/Afro-Caribbean": 0.15714757}
7480468	CYP2C19	Indeterminate	n/a	none	This result signifies that the patient has an allele combination with uncertain and/or unknown function alleles. The expected phenotype for this patient cannot be determined currently based on the CYP2C19 diplotype result. Please consult a clinical pharmacist for more specific information about how CYP2C19 function influences drug dosing.	3	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0034064606, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0022393465}
7480112	CYP2C19	Normal Metabolizer	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of a normal function allele. Based on the genotype result this patient is predicted to be an normal metabolizer of CYP2C19 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2C19. Please consult a clinical pharmacist for more information about how CYP2C19 metabolic status influences drug selection and dosing.	3	{"Latino": 0.5249766, "American": 0.62755567, "European": 0.39611652, "Oceanian": 0.035006005, "East Asian": 0.38055435, "Near Eastern": 0.45192146, "Central/South Asian": 0.29552925, "Sub-Saharan African": 0.36977687, "African American/Afro-Caribbean": 0.32805592}
7480388	CYP2C19	Poor Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of a no function allele. Based on the genotype result this patient is predicted to be a poor metabolizer of CYP2C19 substrates. This patient may be at a high risk for an adverse or poor response to medications that are metabolized by CYP2C19. To avoid an untoward drug response, dose adjustments or or alternative therapy may be necessary for medications metabolized by the CYP2C19. Please consult a clinical pharmacist for more information about how CYP2C19 metabolic status influences drug selection and dosing.	3	{"Latino": 0.011408395, "American": 0.014819587, "European": 0.02387743, "Oceanian": 0.5713864, "East Asian": 0.12978691, "Near Eastern": 0.018584846, "Central/South Asian": 0.08156806, "Sub-Saharan African": 0.036714304, "African American/Afro-Caribbean": 0.040512204}
7480103	CYP2C19	Rapid Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of an increased function allele. Based on the genotype result this patient is predicted to be a rapid metabolizer of CYP2C19 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2C19. To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by CYP2C19. Please consult a clinical pharmacist for more information about how CYP2C19 metabolic status influences drug selection and dosing.	3	{"Latino": 0.24136075, "American": 0.13638271, "European": 0.2711846, "Oceanian": 0.021329276, "East Asian": 0.025343522, "Near Eastern": 0.2573682, "Central/South Asian": 0.18567303, "Sub-Saharan African": 0.21080859, "African American/Afro-Caribbean": 0.2373838}
7481098	CYP2C9	Poor Metabolizer	0.5	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a decreased function allele and one copy of a no function allele. Based on the genotype result, this patient is predicted to be a CYP2C9 poor metabolizer. This patient may be at high risk for an adverse response to medications that are affected by CYP2C9. Please consult a clinical pharmacist for more specific information about how CYP2C9 intermediate metabolizer status influences drug dosing.	3	{"Latino": 0.007974847, "American": 0.0034911723, "European": 0.019907156, "Oceanian": 0.0009130932, "East Asian": 0.0030826868, "Near Eastern": 0.022547128, "Central/South Asian": 0.025517693, "Sub-Saharan African": 0.0049882242, "African American/Afro-Caribbean": 0.004712071}
7480838	CYP2C9	Intermediate Metabolizer	1.0	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of a no function allele OR two copies of decreased function alleles. Based on the genotype result, this patient is predicted to be a CYP2C9 intermediate metabolizer (activity score of 1). This patient may be at risk for an adverse response to medications that are affected by CYP2C9. Please consult a clinical pharmacist for more specific information about how CYP2C9 intermediate metabolizer status influences drug dosing.	3	{"Latino": 0.08109343, "American": 0.05818467, "European": 0.13767911, "Oceanian": 0.03061276, "East Asian": 0.098925985, "Near Eastern": 0.1494271, "Central/South Asian": 0.18352722, "Sub-Saharan African": 0.049747862, "African American/Afro-Caribbean": 0.049812526}
7483660	CYP2D6	Ultrarapid Metabolizer	≥6.0	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0000010000001, "American": 0.0000010000001, "European": 0.0000028470035, "Oceanian": 0.0, "East Asian": 0.0000010000001, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.000025000001, "African American/Afro-Caribbean": 0.0}
7483717	CYP2D6	Ultrarapid Metabolizer	≥3.5	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.00008051411, "American": 0.00001657463, "European": 0.000031193038, "Oceanian": 0.0, "East Asian": 0.00004386605, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0030223487, "African American/Afro-Caribbean": 0.0}
7483745	CYP2D6	Ultrarapid Metabolizer	≥3.25	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.00018561553, "American": 0.00009731066, "European": 0.00046782166, "Oceanian": 0.0, "East Asian": 0.0009120896, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.000952962, "African American/Afro-Caribbean": 0.0}
7483867	CYP2D6	Ultrarapid Metabolizer	4.0	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)] [X copies of a no function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0007764387, "American": 0.0010402872, "European": 0.0003002313, "Oceanian": 0.014133941, "East Asian": 0.000063105406, "Near Eastern": 0.0041771694, "Central/South Asian": 0.00016144973, "Sub-Saharan African": 0.0006431835, "African American/Afro-Caribbean": 0.0007742127}
7483996	CYP2D6	Ultrarapid Metabolizer	2.5	Abnormal/Priority/High Risk	This result signifies that this patient has [X copies of a normal function allele (*_xN)] [X copies of a decreased function allele (*_)]. Based on the genotype result this patient is predicted to be an ultrarapid metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0022434974, "American": 0.0005345896, "European": 0.0003203256, "Oceanian": 0.00024761492, "East Asian": 0.00034846712, "Near Eastern": 0.005864233, "Central/South Asian": 0.00006554563, "Sub-Saharan African": 0.015329994, "African American/Afro-Caribbean": 0.01435911}
7484455	CYP2D6	Normal Metabolizer	1.25	Normal/Routine/ Low Risk	This result signifies that this patient has [1 copy of a normal function allele (*_)] or [2 copies of a decreased function allele with an activity value of 0.5 (*_x2)] and [1 copy of a decreased function allele with an activity value of 0.25 (*_)] OR *41x3 and [1 copy of a decreased function allele with an activity value of 0.5 (*_)] or [2 copies of a decreased function allele with an activity value of 0.25 (*_x2)]. Based on the genotype result this patient is predicted to be a normal metabolizer of CYP2D6 substrates. There is no reason to selectively adjust the dose of most medications that are metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.11888533, "American": 0.07351474, "European": 0.15507403, "Oceanian": 0.12359433, "East Asian": 0.3547828, "Near Eastern": 0.22410923, "Central/South Asian": 0.23109229, "Sub-Saharan African": 0.073030114, "African American/Afro-Caribbean": 0.07348749}
7484483	CYP2D6	Intermediate Metabolizer	0.75	Abnormal/Priority/High Risk	This result signifies that this patient has has three copies of *41 (*41x3) and one copy of a no function allele (*_) OR [1 copy of a decreased function allele with an activity value of 0.25 (*_)] and [1 copy of a decreased function allele with an activity value of 0.5 (*_)] or [2 copies of a decreased function allele with an activity value of 0.25 (*_x2)] . Based on the genotype result this patient is predicted to be an intermediate metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.0074723335, "American": 0.00080644403, "European": 0.0025628314, "Oceanian": 0.00018655165, "East Asian": 0.020004882, "Near Eastern": 0.02042247, "Central/South Asian": 0.0010252715, "Sub-Saharan African": 0.05760366, "African American/Afro-Caribbean": 0.041067164}
7486754	CYP2D6	Intermediate Metabolizer	0.25	Abnormal/Priority/High Risk	This result signifies that this patient has one copy of a decreased function allele with an activity value of 0.25 (*_) and one copy of a no function allele (*_). Based on the genotype result this patient is predicted to be an intermediate metabolizer of CYP2D6 substrates. This patient may be at risk for an adverse or poor response to medications that are metabolized by CYP2D6. To avoid an untoward drug response, dose adjustments may be necessary for medications metabolized by CYP2D6. Please consult a clinical pharmacist for more information about how CYP2D6 metabolic status influences drug selection and dosing.	3	{"Latino": 0.03277562, "American": 0.0138169695, "European": 0.07070104, "Oceanian": 0.010012345, "East Asian": 0.08220821, "Near Eastern": 0.06670452, "Central/South Asian": 0.060946763, "Sub-Saharan African": 0.027220901, "African American/Afro-Caribbean": 0.024385082}
7523962	NUDT15	Indeterminate	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a normal function allele and one copy of an uncertain function allele OR one copy of a decreased function allele and one copy of an uncertain function allele OR two copies of an uncertain function allele. The expected phenotype for this patient cannot be determined currently based on the NUDT15 diplotype result. If thiopurines are required and NUDT15 status is unknown, monitor closely for toxicity. Please consult a clinical pharmacist for more specific information about how NUDT15 function influences drug dosing.	3	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0}
7581983	SLCO1B1	Increased Function	n/a	Normal/Routine/Low Risk	This result signifies that the patient has two copies of an increased function allele. Based on the genotype result, this patient is predicted to have increased SLCO1B1 function. This means that there is no reason to adjust the dose of most medications that are affected by SLCO1B1 on the basis of SLCO1B1 genetic status at this time. Please consult a clinical pharmacist for more specific information about how SLCO1B1 function influences drug dosing.	3	{"American": 0.0, "European": 0.029916462, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7582067	SLCO1B1	Poor Function	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has two copies of a no function allele. Based on the genotype result, this patient is predicted to have low SLCO1B1 function. This patient may be at a high risk for an adverse response to medications that are affected by SLCO1B1 (i.e. statins). To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications affected by SLCO1B1. Please consult a clinical pharmacist for more specific information about how SLCO1B1 function influences drug dosing.	3	{"American": 0.0576, "European": 0.02916489, "Oceanian": 0.0, "East Asian": 0.015759302, "Near Eastern": 0.040000003, "Central/South Asian": 0.004863923, "Sub-Saharan African": 0.0007803353, "African American/Afro-Caribbean": 0.00010}
7582162	SLCO1B1	Possible Decreased Function	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of a uncertain or unknown function allele (*_) and one copy of a no function allele (*_). Based on the genotype result, this patient is predicted to have possible decreased SLCO1B1 function. This patient may be at risk for an adverse response to medications that are affected by SLCO1B1. To avoid an untoward drug response, dose adjustments may be necessary for medications affected by SLCO1B1 (i.e. statins). Please consult a clinical pharmacist for more specific information about how SLCO1B1 function influences drug dosing.	3	{"American": 0.0, "European": 0.00026362084, "Oceanian": 0.0, "East Asian": 0.0011306308, "Near Eastern": 0.0, "Central/South Asian": 0.0000418451, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}
7582792	TPMT	Possible Intermediate Metabolizer	n/a	Abnormal/Priority/High Risk	This result signifies that the patient has one copy of an uncertain or unknown function allele and one copy of a no function allele OR one copy of a no function allele and one copy of a decreased function allele. Based on the genotype result this patient has a priority result (TPMT possible intermediate metabolizer) because their activity is not likely to be any higher than that of an intermediate metabolizer; if the uncertain/unknown function allele is also low, activity may be even lower than that of an intermediate metabolizer. This patient may be at risk for an adverse reactions to medications that are metabolized by TPMT (eg. thiopurines). To avoid an untoward drug response, dose adjustments or alternative therapeutic agents may be necessary for medications metabolized by TPMT. However, thiopurines can be affected by a patient's TPMT and NUDT15 phenotype. Please consult a clinical pharmacist for more information about how TPMT and NUDT15metabolic status influences drug selection and dosing.	3	{"Latino": 0.0003095076, "European": 0.00007234227, "East Asian": 0.0000021581852, "Near Eastern": 0.0, "Central/South Asian": 0.0000034757581, "Sub-Saharan African": 0.0026164071, "African American/Afro-Caribbean": 0.0029308118}
\.


--
-- Data for Name: gene_result_diplotype; Type: TABLE DATA; Schema: cpic; Owner: -
--

COPY cpic.gene_result_diplotype (id, functionphenotypeid, diplotype, diplotypekey, frequency) FROM stdin;
7485748	7485056	*13+*1/*144	{"CYP2D6": {"*144": 1, "*13+*1": 1}}	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}
7523900	7523872	*13/*17	{"NUDT15": {"*13": 1, "*17": 1}}	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null}
7473429	7473428	c.3257G>A/c.3257G>A	{"CACNA1S": {"c.3257G>A": 2}}	\N
7473430	7473428	c.520C>T/c.3257G>A	{"CACNA1S": {"c.520C>T": 1, "c.3257G>A": 1}}	\N
7473431	7473428	c.520C>T/c.520C>T	{"CACNA1S": {"c.520C>T": 2}}	\N
7473433	7473432	c.520C>T/Reference	{"CACNA1S": {"c.520C>T": 1, "Reference": 1}}	\N
7473434	7473432	c.3257G>A/Reference	{"CACNA1S": {"Reference": 1, "c.3257G>A": 1}}	\N
7473437	7473436	Reference/Reference	{"CACNA1S": {"Reference": 2}}	\N
7473440	7473439	D110H/L1480P	{"CFTR": {"D110H": 1, "L1480P": 1}}	\N
7473441	7473439	D579G/E831X	{"CFTR": {"D579G": 1, "E831X": 1}}	\N
7473442	7473439	R347H/R352Q	{"CFTR": {"R347H": 1, "R352Q": 1}}	\N
7473443	7473439	H1375P/S1255P	{"CFTR": {"H1375P": 1, "S1255P": 1}}	\N
7473444	7473439	E831X/G178R	{"CFTR": {"E831X": 1, "G178R": 1}}	\N
7473445	7473439	G178R/R117P	{"CFTR": {"G178R": 1, "R117P": 1}}	\N
7473446	7473439	R352Q/S549N	{"CFTR": {"R352Q": 1, "S549N": 1}}	\N
7473447	7473439	G178R/R117L	{"CFTR": {"G178R": 1, "R117L": 1}}	\N
7473448	7473439	E56K/R352Q	{"CFTR": {"E56K": 1, "R352Q": 1}}	\N
7473449	7473439	R117G/R1162L	{"CFTR": {"R117G": 1, "R1162L": 1}}	\N
7473450	7473439	A455E/R668C	{"CFTR": {"A455E": 1, "R668C": 1}}	\N
7473451	7473439	L967S/R933G	{"CFTR": {"L967S": 1, "R933G": 1}}	\N
7473452	7473439	G178R/R553Q	{"CFTR": {"G178R": 1, "R553Q": 1}}	\N
7473453	7473439	L997F(G>C)/R1162L	{"CFTR": {"R1162L": 1, "L997F(G>C)": 1}}	\N
7473454	7473439	3272-26A->G/A455E	{"CFTR": {"A455E": 1, "3272-26A->G": 1}}	\N
7473455	7473439	D1152H/M952I(G>C)	{"CFTR": {"D1152H": 1, "M952I(G>C)": 1}}	\N
7473456	7473439	L997F(G>C)/S589N	{"CFTR": {"S589N": 1, "L997F(G>C)": 1}}	\N
7473457	7473439	D1152H/M952I(G>A)	{"CFTR": {"D1152H": 1, "M952I(G>A)": 1}}	\N
7473458	7473439	D110E/V1293G	{"CFTR": {"D110E": 1, "V1293G": 1}}	\N
7473459	7473439	R1070W/Y1032C	{"CFTR": {"R1070W": 1, "Y1032C": 1}}	\N
7473460	7473439	P67L/Y1014C	{"CFTR": {"P67L": 1, "Y1014C": 1}}	\N
7473461	7473439	D110H/F508C,S1251N	{"CFTR": {"D110H": 1, "F508C,S1251N": 1}}	\N
7473462	7473439	3849+10kbC->T/L1480P	{"CFTR": {"L1480P": 1, "3849+10kbC->T": 1}}	\N
7473463	7473439	R347H/S1159F	{"CFTR": {"R347H": 1, "S1159F": 1}}	\N
7473464	7473439	H1375P/H1375P	{"CFTR": {"H1375P": 2}}	\N
7473465	7473439	G178R/H939R	{"CFTR": {"G178R": 1, "H939R": 1}}	\N
7473466	7473439	E193K/R668C	{"CFTR": {"E193K": 1, "R668C": 1}}	\N
7473467	7473439	711+3A->G/R75Q	{"CFTR": {"R75Q": 1, "711+3A->G": 1}}	\N
7473468	7473439	G1244E/H1375P	{"CFTR": {"G1244E": 1, "H1375P": 1}}	\N
7473469	7473439	L967S/S549R(T>G)	{"CFTR": {"L967S": 1, "S549R(T>G)": 1}}	\N
7473470	7473439	R347H/S1159P	{"CFTR": {"R347H": 1, "S1159P": 1}}	\N
7473471	7473439	D192G/R75Q	{"CFTR": {"R75Q": 1, "D192G": 1}}	\N
7473472	7473439	E831X/G178E	{"CFTR": {"E831X": 1, "G178E": 1}}	\N
7473473	7473439	L206W/S1255P	{"CFTR": {"L206W": 1, "S1255P": 1}}	\N
7473474	7473439	A1067T/M952I(G>T)	{"CFTR": {"A1067T": 1, "M952I(G>T)": 1}}	\N
7473475	7473439	F1052V/W1282R	{"CFTR": {"F1052V": 1, "W1282R": 1}}	\N
7473476	7473439	R74W/R1162L	{"CFTR": {"R74W": 1, "R1162L": 1}}	\N
7473477	7473439	D924N/D1152H	{"CFTR": {"D924N": 1, "D1152H": 1}}	\N
7473478	7473439	A234D/R347L	{"CFTR": {"A234D": 1, "R347L": 1}}	\N
7473479	7473439	711+3A->G/R74W	{"CFTR": {"R74W": 1, "711+3A->G": 1}}	\N
7473480	7473439	G1349D/V562I	{"CFTR": {"V562I": 1, "G1349D": 1}}	\N
7473481	7473439	A234D/R347H	{"CFTR": {"A234D": 1, "R347H": 1}}	\N
7473482	7473439	A455E/V232D	{"CFTR": {"A455E": 1, "V232D": 1}}	\N
7473483	7473439	F508C/G1349D	{"CFTR": {"F508C": 1, "G1349D": 1}}	\N
7473484	7473439	Y1032C/Y1032C	{"CFTR": {"Y1032C": 2}}	\N
7473485	7473439	G194R(G>A)/S549R(T>G)	{"CFTR": {"G194R(G>A)": 1, "S549R(T>G)": 1}}	\N
7473486	7473439	R792G/S549R(A>C)	{"CFTR": {"R792G": 1, "S549R(A>C)": 1}}	\N
7473487	7473439	S737F/S1159P	{"CFTR": {"S737F": 1, "S1159P": 1}}	\N
7473488	7473439	G194R(G>A)/G1349D	{"CFTR": {"G1349D": 1, "G194R(G>A)": 1}}	\N
7473489	7473439	D192G/R74W	{"CFTR": {"R74W": 1, "D192G": 1}}	\N
7473490	7473439	E831X/F508C	{"CFTR": {"E831X": 1, "F508C": 1}}	\N
7473491	7473439	3849+10kbC->T/F508C,S1251N	{"CFTR": {"F508C,S1251N": 1, "3849+10kbC->T": 1}}	\N
7473492	7473439	G178E/V562I	{"CFTR": {"G178E": 1, "V562I": 1}}	\N
7473493	7473439	A1067T/I1139V	{"CFTR": {"A1067T": 1, "I1139V": 1}}	\N
7473494	7473439	S737F/S1159F	{"CFTR": {"S737F": 1, "S1159F": 1}}	\N
7473495	7473439	D110E/L320V	{"CFTR": {"D110E": 1, "L320V": 1}}	\N
7473496	7473439	I175V/L997F(G>T)	{"CFTR": {"I175V": 1, "L997F(G>T)": 1}}	\N
7473497	7473439	3849+10kbC->T/D1152H	{"CFTR": {"D1152H": 1, "3849+10kbC->T": 1}}	\N
7473498	7473439	A455E/S737F	{"CFTR": {"A455E": 1, "S737F": 1}}	\N
7473499	7473439	A120T/F311del	{"CFTR": {"A120T": 1, "F311del": 1}}	\N
7473500	7473439	I1139V/R170H	{"CFTR": {"R170H": 1, "I1139V": 1}}	\N
7473501	7473439	R74W/S589N	{"CFTR": {"R74W": 1, "S589N": 1}}	\N
7473502	7473439	S549R(A>C)/V562I	{"CFTR": {"V562I": 1, "S549R(A>C)": 1}}	\N
7473503	7473439	A455E/T1053I	{"CFTR": {"A455E": 1, "T1053I": 1}}	\N
7473504	7473439	F508C/R933G	{"CFTR": {"F508C": 1, "R933G": 1}}	\N
7473505	7473439	D110E/D1152H	{"CFTR": {"D110E": 1, "D1152H": 1}}	\N
7473506	7473439	F508C/S549R(T>G)	{"CFTR": {"F508C": 1, "S549R(T>G)": 1}}	\N
7473507	7473439	L997F(G>T)/R1162L	{"CFTR": {"R1162L": 1, "L997F(G>T)": 1}}	\N
7473508	7473439	I807M/V562I	{"CFTR": {"I807M": 1, "V562I": 1}}	\N
7473509	7473439	A455E/I148T	{"CFTR": {"A455E": 1, "I148T": 1}}	\N
7473510	7473439	R117C/R1162L	{"CFTR": {"R117C": 1, "R1162L": 1}}	\N
7473511	7473439	A120T/A234D	{"CFTR": {"A120T": 1, "A234D": 1}}	\N
7473512	7473439	A234D/F508C	{"CFTR": {"A234D": 1, "F508C": 1}}	\N
7473513	7473439	D192G/G1069R	{"CFTR": {"D192G": 1, "G1069R": 1}}	\N
7473514	7473439	L1480P/S737F	{"CFTR": {"S737F": 1, "L1480P": 1}}	\N
7473515	7473439	R117C/S589N	{"CFTR": {"R117C": 1, "S589N": 1}}	\N
7473516	7473439	D924N/L320V	{"CFTR": {"D924N": 1, "L320V": 1}}	\N
7473517	7473439	L997F(G>T)/S589N	{"CFTR": {"S589N": 1, "L997F(G>T)": 1}}	\N
7473518	7473439	711+3A->G/G1069R	{"CFTR": {"G1069R": 1, "711+3A->G": 1}}	\N
7473519	7473439	711+3A->G/A120T	{"CFTR": {"A120T": 1, "711+3A->G": 1}}	\N
7473520	7473439	L206W/Q1291R	{"CFTR": {"L206W": 1, "Q1291R": 1}}	\N
7473521	7473439	3272-26A->G/L997F(G>T)	{"CFTR": {"L997F(G>T)": 1, "3272-26A->G": 1}}	\N
7473522	7473439	I1027T/L967S	{"CFTR": {"L967S": 1, "I1027T": 1}}	\N
7473523	7473439	A234D/G1244E	{"CFTR": {"A234D": 1, "G1244E": 1}}	\N
7473524	7473439	Q359R/S977F	{"CFTR": {"Q359R": 1, "S977F": 1}}	\N
7473525	7473439	G576A/Q1291R	{"CFTR": {"G576A": 1, "Q1291R": 1}}	\N
7473526	7473439	G1244E/S1255P	{"CFTR": {"G1244E": 1, "S1255P": 1}}	\N
7473527	7473439	G1069R/Y1014C	{"CFTR": {"G1069R": 1, "Y1014C": 1}}	\N
7473528	7473439	L1480P/T1053I	{"CFTR": {"L1480P": 1, "T1053I": 1}}	\N
7473529	7473439	R74W/Y1032C	{"CFTR": {"R74W": 1, "Y1032C": 1}}	\N
7473530	7473439	D1270N/F311L	{"CFTR": {"F311L": 1, "D1270N": 1}}	\N
7473531	7473439	H1375P/I1139V	{"CFTR": {"H1375P": 1, "I1139V": 1}}	\N
7473532	7473439	711+3A->G/G1244E	{"CFTR": {"G1244E": 1, "711+3A->G": 1}}	\N
7473533	7473439	F508C/L967S	{"CFTR": {"F508C": 1, "L967S": 1}}	\N
7473534	7473439	H1375P/S1251N	{"CFTR": {"H1375P": 1, "S1251N": 1}}	\N
7473535	7473439	D110H/V1293G	{"CFTR": {"D110H": 1, "V1293G": 1}}	\N
7473536	7473439	F311L/G551D	{"CFTR": {"F311L": 1, "G551D": 1}}	\N
7473537	7473439	A349V/R347L	{"CFTR": {"A349V": 1, "R347L": 1}}	\N
7473538	7473439	G1244E/I1139V	{"CFTR": {"G1244E": 1, "I1139V": 1}}	\N
7473539	7473439	G194R(G>A)/L967S	{"CFTR": {"L967S": 1, "G194R(G>A)": 1}}	\N
7473540	7473439	A349V/R347H	{"CFTR": {"A349V": 1, "R347H": 1}}	\N
7473541	7473439	D110H/G551D	{"CFTR": {"D110H": 1, "G551D": 1}}	\N
7473542	7473439	G970D/G1249R(G>A)	{"CFTR": {"G970D": 1, "G1249R(G>A)": 1}}	\N
7473543	7473439	A234D/G1069R	{"CFTR": {"A234D": 1, "G1069R": 1}}	\N
7473544	7473439	3849+10kbC->T/G551S	{"CFTR": {"G551S": 1, "3849+10kbC->T": 1}}	\N
7473545	7473439	D192G/G194R(G>A)	{"CFTR": {"D192G": 1, "G194R(G>A)": 1}}	\N
7473546	7473439	D579G/Y1032C	{"CFTR": {"D579G": 1, "Y1032C": 1}}	\N
7473547	7473439	I1027T/M952I(G>C)	{"CFTR": {"I1027T": 1, "M952I(G>C)": 1}}	\N
7473548	7473439	711+3A->G/F508C	{"CFTR": {"F508C": 1, "711+3A->G": 1}}	\N
7473549	7473439	A455E/M152V	{"CFTR": {"A455E": 1, "M152V": 1}}	\N
7473550	7473439	G576A/S1255P	{"CFTR": {"G576A": 1, "S1255P": 1}}	\N
7473551	7473439	G551D/P67L	{"CFTR": {"P67L": 1, "G551D": 1}}	\N
7473552	7473439	E822K/P67L	{"CFTR": {"P67L": 1, "E822K": 1}}	\N
7473553	7473439	H939R/L997F(G>C)	{"CFTR": {"H939R": 1, "L997F(G>C)": 1}}	\N
7473554	7473439	711+3A->G/S549N	{"CFTR": {"S549N": 1, "711+3A->G": 1}}	\N
7473555	7473439	E193K/F1052V	{"CFTR": {"E193K": 1, "F1052V": 1}}	\N
7473556	7473439	R347H/R792G	{"CFTR": {"R347H": 1, "R792G": 1}}	\N
7473557	7473439	3849+10kbC->T/L320V	{"CFTR": {"L320V": 1, "3849+10kbC->T": 1}}	\N
7473558	7473439	3849+10kbC->T/G551D	{"CFTR": {"G551D": 1, "3849+10kbC->T": 1}}	\N
7473559	7473439	R553Q/V562I	{"CFTR": {"R553Q": 1, "V562I": 1}}	\N
7473560	7473439	R347L/R352Q	{"CFTR": {"R347L": 1, "R352Q": 1}}	\N
7473561	7473439	E56K/G970D	{"CFTR": {"E56K": 1, "G970D": 1}}	\N
7473562	7473439	G194R(G>A)/R933G	{"CFTR": {"R933G": 1, "G194R(G>A)": 1}}	\N
7473563	7473439	F311L/L997F(G>T)	{"CFTR": {"F311L": 1, "L997F(G>T)": 1}}	\N
7473564	7473439	I1027T/S549R(T>G)	{"CFTR": {"I1027T": 1, "S549R(T>G)": 1}}	\N
7473565	7473439	A234D/G194R(G>C)	{"CFTR": {"A234D": 1, "G194R(G>C)": 1}}	\N
7473566	7473439	G1249R(G>C)/P67L	{"CFTR": {"P67L": 1, "G1249R(G>C)": 1}}	\N
7473567	7473439	A1067T/A1067T	{"CFTR": {"A1067T": 2}}	\N
7473568	7473439	F508C,S1251N/Y1014C	{"CFTR": {"Y1014C": 1, "F508C,S1251N": 1}}	\N
7473569	7473439	R347L/S1159F	{"CFTR": {"R347L": 1, "S1159F": 1}}	\N
7473570	7473439	E831X/G1244E	{"CFTR": {"E831X": 1, "G1244E": 1}}	\N
7473571	7473439	G1249R(G>C)/M952I(G>A)	{"CFTR": {"M952I(G>A)": 1, "G1249R(G>C)": 1}}	\N
7473572	7473439	E193K/S737F	{"CFTR": {"E193K": 1, "S737F": 1}}	\N
7473573	7473439	F508C,S1251N/L997F(G>T)	{"CFTR": {"L997F(G>T)": 1, "F508C,S1251N": 1}}	\N
7473574	7473439	A1067T/S1251N	{"CFTR": {"A1067T": 1, "S1251N": 1}}	\N
7473575	7473439	F311L/G551S	{"CFTR": {"F311L": 1, "G551S": 1}}	\N
7473576	7473439	S977F/S1159P	{"CFTR": {"S977F": 1, "S1159P": 1}}	\N
7473577	7473439	R347L/S1159P	{"CFTR": {"R347L": 1, "S1159P": 1}}	\N
7473578	7473439	D924N/F508C,S1251N	{"CFTR": {"D924N": 1, "F508C,S1251N": 1}}	\N
7473579	7473439	D110E/D924N	{"CFTR": {"D110E": 1, "D924N": 1}}	\N
7473580	7473439	E822K/G314E	{"CFTR": {"E822K": 1, "G314E": 1}}	\N
7473581	7473439	E822K/V754M	{"CFTR": {"E822K": 1, "V754M": 1}}	\N
7473582	7473439	F1052V/S977F	{"CFTR": {"S977F": 1, "F1052V": 1}}	\N
7473583	7473439	E56K/I807M	{"CFTR": {"E56K": 1, "I807M": 1}}	\N
7473584	7473439	A120T/E193K	{"CFTR": {"A120T": 1, "E193K": 1}}	\N
7473585	7473439	E831X/G194R(G>A)	{"CFTR": {"E831X": 1, "G194R(G>A)": 1}}	\N
7473586	7473439	A234D/R75Q	{"CFTR": {"R75Q": 1, "A234D": 1}}	\N
7473587	7473439	D110H/G551S	{"CFTR": {"D110H": 1, "G551S": 1}}	\N
7473588	7473439	F311del/R170H	{"CFTR": {"R170H": 1, "F311del": 1}}	\N
7473589	7473439	G1349D/Q359R	{"CFTR": {"Q359R": 1, "G1349D": 1}}	\N
7473590	7473439	S977F/S1159F	{"CFTR": {"S977F": 1, "S1159F": 1}}	\N
7473591	7473439	G551S/G576A	{"CFTR": {"G551S": 1, "G576A": 1}}	\N
7473592	7473439	G576A/H1375P	{"CFTR": {"G576A": 1, "H1375P": 1}}	\N
7473593	7473439	E56K/S1159P	{"CFTR": {"E56K": 1, "S1159P": 1}}	\N
7473594	7473439	D110E/G551S	{"CFTR": {"D110E": 1, "G551S": 1}}	\N
7473595	7473439	L206W/S1251N	{"CFTR": {"L206W": 1, "S1251N": 1}}	\N
7473596	7473439	R117H/S589N	{"CFTR": {"R117H": 1, "S589N": 1}}	\N
7473597	7473439	G970D/G1249R(G>C)	{"CFTR": {"G970D": 1, "G1249R(G>C)": 1}}	\N
7473598	7473439	D924N/L1480P	{"CFTR": {"D924N": 1, "L1480P": 1}}	\N
7473599	7473439	K1060T/S945L	{"CFTR": {"S945L": 1, "K1060T": 1}}	\N
7473600	7473439	D110H/L320V	{"CFTR": {"D110H": 1, "L320V": 1}}	\N
7473601	7473439	G1069R/L997F(G>T)	{"CFTR": {"G1069R": 1, "L997F(G>T)": 1}}	\N
7473602	7473439	F1074L/R1162L	{"CFTR": {"F1074L": 1, "R1162L": 1}}	\N
7473603	7473439	3849+10kbC->T/D924N	{"CFTR": {"D924N": 1, "3849+10kbC->T": 1}}	\N
7473604	7473439	E831X/S549N	{"CFTR": {"E831X": 1, "S549N": 1}}	\N
7473605	7473439	3272-26A->G/F508C,S1251N	{"CFTR": {"3272-26A->G": 1, "F508C,S1251N": 1}}	\N
7473606	7473439	D110E/G551D	{"CFTR": {"D110E": 1, "G551D": 1}}	\N
7473607	7473439	D110H/D924N	{"CFTR": {"D110H": 1, "D924N": 1}}	\N
7473608	7473439	E56K/S1159F	{"CFTR": {"E56K": 1, "S1159F": 1}}	\N
7473609	7473439	F508C,S1251N/G551D	{"CFTR": {"G551D": 1, "F508C,S1251N": 1}}	\N
7473610	7473439	A234D/R74W	{"CFTR": {"R74W": 1, "A234D": 1}}	\N
7473611	7473439	E193K/I148T	{"CFTR": {"E193K": 1, "I148T": 1}}	\N
7473612	7473439	Q237H/V232D	{"CFTR": {"Q237H": 1, "V232D": 1}}	\N
7473613	7473439	R1070W/R1162L	{"CFTR": {"R1070W": 1, "R1162L": 1}}	\N
7473614	7473439	R1070Q/Y1032C	{"CFTR": {"R1070Q": 1, "Y1032C": 1}}	\N
7473615	7473439	3849+10kbC->T/V1293G	{"CFTR": {"V1293G": 1, "3849+10kbC->T": 1}}	\N
7473616	7473439	D579G/Q237H	{"CFTR": {"D579G": 1, "Q237H": 1}}	\N
7473617	7473439	F508C,S1251N/G551S	{"CFTR": {"G551S": 1, "F508C,S1251N": 1}}	\N
7473618	7473439	R117G/S589N	{"CFTR": {"R117G": 1, "S589N": 1}}	\N
7473619	7473439	A234D/G194R(G>A)	{"CFTR": {"A234D": 1, "G194R(G>A)": 1}}	\N
7473620	7473439	L1480P/M152V	{"CFTR": {"M152V": 1, "L1480P": 1}}	\N
7473621	7473439	R117C/Y1032C	{"CFTR": {"R117C": 1, "Y1032C": 1}}	\N
7473622	7473439	F1052V/R1070Q	{"CFTR": {"F1052V": 1, "R1070Q": 1}}	\N
7473623	7473439	I1027T/M952I(G>A)	{"CFTR": {"I1027T": 1, "M952I(G>A)": 1}}	\N
7473624	7473439	R117H/R1162L	{"CFTR": {"R117H": 1, "R1162L": 1}}	\N
7473625	7473439	G178R/R117H	{"CFTR": {"G178R": 1, "R117H": 1}}	\N
7473626	7473439	G178R/R117G	{"CFTR": {"G178R": 1, "R117G": 1}}	\N
7473627	7473439	G314E/M952T	{"CFTR": {"G314E": 1, "M952T": 1}}	\N
7473628	7473439	3272-26A->G/L1480P	{"CFTR": {"L1480P": 1, "3272-26A->G": 1}}	\N
7473629	7473439	D192G/R347H	{"CFTR": {"D192G": 1, "R347H": 1}}	\N
7473630	7473439	D579G/Q237E	{"CFTR": {"D579G": 1, "Q237E": 1}}	\N
7473631	7473439	G178R/R117C	{"CFTR": {"G178R": 1, "R117C": 1}}	\N
7473632	7473439	A234D/S549N	{"CFTR": {"A234D": 1, "S549N": 1}}	\N
7473633	7473439	G970D/L206W	{"CFTR": {"G970D": 1, "L206W": 1}}	\N
7473634	7473439	R170H/S589N	{"CFTR": {"R170H": 1, "S589N": 1}}	\N
7473635	7473439	A455E/I807M	{"CFTR": {"A455E": 1, "I807M": 1}}	\N
7473636	7473439	D192G/R347L	{"CFTR": {"D192G": 1, "R347L": 1}}	\N
7473637	7473439	R1070W/S589N	{"CFTR": {"S589N": 1, "R1070W": 1}}	\N
7473638	7473439	E193K/V232D	{"CFTR": {"E193K": 1, "V232D": 1}}	\N
7473639	7473439	E831X/G194R(G>C)	{"CFTR": {"E831X": 1, "G194R(G>C)": 1}}	\N
7473640	7473439	M952I(G>C)/R170H	{"CFTR": {"R170H": 1, "M952I(G>C)": 1}}	\N
7473641	7473439	F1052V/R1070W	{"CFTR": {"F1052V": 1, "R1070W": 1}}	\N
7473642	7473439	G1244E/S1251N	{"CFTR": {"G1244E": 1, "S1251N": 1}}	\N
7473643	7473439	L1480P/R668C	{"CFTR": {"R668C": 1, "L1480P": 1}}	\N
7473644	7473439	R170H/R1162L	{"CFTR": {"R170H": 1, "R1162L": 1}}	\N
7473645	7473439	M952I(G>A)/Y1014C	{"CFTR": {"Y1014C": 1, "M952I(G>A)": 1}}	\N
7473646	7473439	R792G/S945L	{"CFTR": {"R792G": 1, "S945L": 1}}	\N
7473647	7473439	M952T/V232D	{"CFTR": {"M952T": 1, "V232D": 1}}	\N
7473648	7473439	2789+5G->A/E822K	{"CFTR": {"E822K": 1, "2789+5G->A": 1}}	\N
7473649	7473439	Y1014C/Y1032C	{"CFTR": {"Y1014C": 1, "Y1032C": 1}}	\N
7473650	7473439	L997F(G>C)/Q237E	{"CFTR": {"Q237E": 1, "L997F(G>C)": 1}}	\N
7473651	7473439	A349V/S549N	{"CFTR": {"A349V": 1, "S549N": 1}}	\N
7473652	7473439	3849+10kbC->T/R1283M	{"CFTR": {"R1283M": 1, "3849+10kbC->T": 1}}	\N
7473653	7473439	F311L/L1480P	{"CFTR": {"F311L": 1, "L1480P": 1}}	\N
7473654	7473439	F508C/M952I(G>C)	{"CFTR": {"F508C": 1, "M952I(G>C)": 1}}	\N
7473655	7473439	L997F(G>C)/Q237H	{"CFTR": {"Q237H": 1, "L997F(G>C)": 1}}	\N
7473656	7473439	D1152H/P67L	{"CFTR": {"P67L": 1, "D1152H": 1}}	\N
7473657	7473439	D579G/S589N	{"CFTR": {"D579G": 1, "S589N": 1}}	\N
7473658	7473439	G194R(G>A)/M952I(G>C)	{"CFTR": {"G194R(G>A)": 1, "M952I(G>C)": 1}}	\N
7473659	7473439	H939R/M952T	{"CFTR": {"H939R": 1, "M952T": 1}}	\N
7473660	7473439	Q237E/S737F	{"CFTR": {"Q237E": 1, "S737F": 1}}	\N
7473661	7473439	A349V/I1027T	{"CFTR": {"A349V": 1, "I1027T": 1}}	\N
7473662	7473439	G314E/Y1014C	{"CFTR": {"G314E": 1, "Y1014C": 1}}	\N
7473663	7473439	3272-26A->G/M952T	{"CFTR": {"M952T": 1, "3272-26A->G": 1}}	\N
7473664	7473439	Q237E/T1053I	{"CFTR": {"Q237E": 1, "T1053I": 1}}	\N
7473665	7473439	G314E/L997F(G>C)	{"CFTR": {"G314E": 1, "L997F(G>C)": 1}}	\N
7473666	7473439	E193K/R792G	{"CFTR": {"E193K": 1, "R792G": 1}}	\N
7473667	7473439	L997F(G>T)/Q237E	{"CFTR": {"Q237E": 1, "L997F(G>T)": 1}}	\N
7473668	7473439	L997F(G>T)/Q237H	{"CFTR": {"Q237H": 1, "L997F(G>T)": 1}}	\N
7473669	7473439	M952I(G>T)/R170H	{"CFTR": {"R170H": 1, "M952I(G>T)": 1}}	\N
7473670	7473439	F311L/F508C,S1251N	{"CFTR": {"F311L": 1, "F508C,S1251N": 1}}	\N
7473671	7473439	E831X/R347H	{"CFTR": {"E831X": 1, "R347H": 1}}	\N
7473672	7473439	M952T/S737F	{"CFTR": {"M952T": 1, "S737F": 1}}	\N
7473673	7473439	3849+10kbC->T/T338I	{"CFTR": {"T338I": 1, "3849+10kbC->T": 1}}	\N
7473674	7473439	D579G/E56K	{"CFTR": {"E56K": 1, "D579G": 1}}	\N
7473675	7473439	F311del/R352Q	{"CFTR": {"R352Q": 1, "F311del": 1}}	\N
7473676	7473439	L967S/M952I(G>C)	{"CFTR": {"L967S": 1, "M952I(G>C)": 1}}	\N
7473677	7473439	Q237H/S737F	{"CFTR": {"Q237H": 1, "S737F": 1}}	\N
7473678	7473439	G194R(G>C)/I175V	{"CFTR": {"I175V": 1, "G194R(G>C)": 1}}	\N
7473679	7473439	711+3A->G/D192G	{"CFTR": {"D192G": 1, "711+3A->G": 1}}	\N
7473680	7473439	L997F(G>C)/Y1032C	{"CFTR": {"Y1032C": 1, "L997F(G>C)": 1}}	\N
7473681	7473439	E831X/R347L	{"CFTR": {"E831X": 1, "R347L": 1}}	\N
7473682	7473439	F311del/G178R	{"CFTR": {"G178R": 1, "F311del": 1}}	\N
7473683	7473439	E56K/I148T	{"CFTR": {"E56K": 1, "I148T": 1}}	\N
7473684	7473439	Q237H/T1053I	{"CFTR": {"Q237H": 1, "T1053I": 1}}	\N
7473685	7473439	H1375P/Q1291R	{"CFTR": {"H1375P": 1, "Q1291R": 1}}	\N
7473686	7473439	R75Q/R1283M	{"CFTR": {"R75Q": 1, "R1283M": 1}}	\N
7473687	7473439	D192G/G178E	{"CFTR": {"D192G": 1, "G178E": 1}}	\N
7473688	7473439	D192G/D192G	{"CFTR": {"D192G": 2}}	\N
7473689	7473439	F508C,S1251N/L1480P	{"CFTR": {"L1480P": 1, "F508C,S1251N": 1}}	\N
7473690	7473439	D579G/R1162L	{"CFTR": {"D579G": 1, "R1162L": 1}}	\N
7473691	7473439	Q237E/V232D	{"CFTR": {"Q237E": 1, "V232D": 1}}	\N
7473692	7473439	D192G/G194R(G>C)	{"CFTR": {"D192G": 1, "G194R(G>C)": 1}}	\N
7473693	7473439	G178R/V1293G	{"CFTR": {"G178R": 1, "V1293G": 1}}	\N
7473694	7473439	R117P/V562I	{"CFTR": {"R117P": 1, "V562I": 1}}	\N
7473695	7473439	G1069R/L1480P	{"CFTR": {"G1069R": 1, "L1480P": 1}}	\N
7473696	7473439	R75Q/T338I	{"CFTR": {"R75Q": 1, "T338I": 1}}	\N
7473697	7473439	T338I/V232D	{"CFTR": {"T338I": 1, "V232D": 1}}	\N
7473698	7473439	3849+10kbC->T/A455E	{"CFTR": {"A455E": 1, "3849+10kbC->T": 1}}	\N
7473699	7473439	D110E/D579G	{"CFTR": {"D110E": 1, "D579G": 1}}	\N
7473700	7473439	L967S/L967S	{"CFTR": {"L967S": 2}}	\N
7473701	7473439	F508C/M952I(G>A)	{"CFTR": {"F508C": 1, "M952I(G>A)": 1}}	\N
7473702	7473439	G970D/R1162L	{"CFTR": {"G970D": 1, "R1162L": 1}}	\N
7473703	7473439	F508C,S1251N/F508C,S1251N	{"CFTR": {"F508C,S1251N": 2}}	\N
7473704	7473439	G970D/S589N	{"CFTR": {"G970D": 1, "S589N": 1}}	\N
7473705	7473439	A1067T/H1375P	{"CFTR": {"A1067T": 1, "H1375P": 1}}	\N
7473706	7473439	711+3A->G/G178R	{"CFTR": {"G178R": 1, "711+3A->G": 1}}	\N
7473707	7473439	G194R(G>A)/M952I(G>A)	{"CFTR": {"G194R(G>A)": 1, "M952I(G>A)": 1}}	\N
7473708	7473439	D579G/G1249R(G>A)	{"CFTR": {"D579G": 1, "G1249R(G>A)": 1}}	\N
7473709	7473439	G1249R(G>C)/M952I(G>C)	{"CFTR": {"M952I(G>C)": 1, "G1249R(G>C)": 1}}	\N
7473710	7473439	I175V/M952T	{"CFTR": {"I175V": 1, "M952T": 1}}	\N
7473711	7473439	Q359R/W1282R	{"CFTR": {"Q359R": 1, "W1282R": 1}}	\N
7473712	7473439	711+3A->G/G178E	{"CFTR": {"G178E": 1, "711+3A->G": 1}}	\N
7473713	7473439	D192G/G178R	{"CFTR": {"D192G": 1, "G178R": 1}}	\N
7473714	7473439	E56K/F1052V	{"CFTR": {"E56K": 1, "F1052V": 1}}	\N
7473715	7473439	M952I(G>A)/V1293G	{"CFTR": {"V1293G": 1, "M952I(G>A)": 1}}	\N
7473716	7473439	F311del/G178E	{"CFTR": {"G178E": 1, "F311del": 1}}	\N
7473717	7473439	D110H/Y1014C	{"CFTR": {"D110H": 1, "Y1014C": 1}}	\N
7473718	7473439	R668C/Y1032C	{"CFTR": {"R668C": 1, "Y1032C": 1}}	\N
7473719	7473439	H1375P/R933G	{"CFTR": {"R933G": 1, "H1375P": 1}}	\N
7473720	7473439	A1067T/R933G	{"CFTR": {"R933G": 1, "A1067T": 1}}	\N
7473721	7473439	2789+5G->A/S589N	{"CFTR": {"S589N": 1, "2789+5G->A": 1}}	\N
7473722	7473439	F508C/H1375P	{"CFTR": {"F508C": 1, "H1375P": 1}}	\N
7473723	7473439	711+3A->G/I1027T	{"CFTR": {"I1027T": 1, "711+3A->G": 1}}	\N
7473724	7473439	D192G/F508C	{"CFTR": {"D192G": 1, "F508C": 1}}	\N
7473725	7473439	R668C/S589N	{"CFTR": {"R668C": 1, "S589N": 1}}	\N
7473726	7473439	E56K/R792G	{"CFTR": {"E56K": 1, "R792G": 1}}	\N
7473727	7473439	G178R/Q359R	{"CFTR": {"G178R": 1, "Q359R": 1}}	\N
7473728	7473439	R75Q/R553Q	{"CFTR": {"R75Q": 1, "R553Q": 1}}	\N
7473729	7473439	F311L/Y1014C	{"CFTR": {"F311L": 1, "Y1014C": 1}}	\N
7473730	7473439	G194R(G>A)/H1375P	{"CFTR": {"H1375P": 1, "G194R(G>A)": 1}}	\N
7473731	7473439	E193K/M152V	{"CFTR": {"E193K": 1, "M152V": 1}}	\N
7473732	7473439	D110E/F508C,S1251N	{"CFTR": {"D110E": 1, "F508C,S1251N": 1}}	\N
7473733	7473439	R75Q/R117L	{"CFTR": {"R75Q": 1, "R117L": 1}}	\N
7473734	7473439	R668C/R1162L	{"CFTR": {"R668C": 1, "R1162L": 1}}	\N
7473735	7473439	R75Q/R117H	{"CFTR": {"R75Q": 1, "R117H": 1}}	\N
7473736	7473439	S945L/V232D	{"CFTR": {"S945L": 1, "V232D": 1}}	\N
7473737	7473439	L997F(G>T)/Y1032C	{"CFTR": {"Y1032C": 1, "L997F(G>T)": 1}}	\N
7473738	7473439	R75Q/R117G	{"CFTR": {"R75Q": 1, "R117G": 1}}	\N
7473739	7473439	S1255P/Y1032C	{"CFTR": {"S1255P": 1, "Y1032C": 1}}	\N
7473740	7473439	2789+5G->A/R1162L	{"CFTR": {"R1162L": 1, "2789+5G->A": 1}}	\N
7473741	7473439	E822K/S945L	{"CFTR": {"E822K": 1, "S945L": 1}}	\N
7473742	7473439	G1244E/S549R(T>G)	{"CFTR": {"G1244E": 1, "S549R(T>G)": 1}}	\N
7473743	7473439	R75Q/R117P	{"CFTR": {"R75Q": 1, "R117P": 1}}	\N
7473744	7473439	D192G/R1070W	{"CFTR": {"D192G": 1, "R1070W": 1}}	\N
7473745	7473439	G1249R(G>A)/S977F	{"CFTR": {"S977F": 1, "G1249R(G>A)": 1}}	\N
7473746	7473439	F311del/G1244E	{"CFTR": {"G1244E": 1, "F311del": 1}}	\N
7473747	7473439	3849+10kbC->T/R117P	{"CFTR": {"R117P": 1, "3849+10kbC->T": 1}}	\N
7473748	7473439	3849+10kbC->T/R553Q	{"CFTR": {"R553Q": 1, "3849+10kbC->T": 1}}	\N
7473749	7473439	D579G/S549R(A>C)	{"CFTR": {"D579G": 1, "S549R(A>C)": 1}}	\N
7473750	7473439	3849+10kbC->T/R117L	{"CFTR": {"R117L": 1, "3849+10kbC->T": 1}}	\N
7473751	7473439	D579G/G1249R(G>C)	{"CFTR": {"D579G": 1, "G1249R(G>C)": 1}}	\N
7473752	7473439	G178E/I175V	{"CFTR": {"G178E": 1, "I175V": 1}}	\N
7473753	7473439	R75Q/R117C	{"CFTR": {"R75Q": 1, "R117C": 1}}	\N
7473754	7473439	D192G/R1070Q	{"CFTR": {"D192G": 1, "R1070Q": 1}}	\N
7473755	7473439	F311del/F508C	{"CFTR": {"F508C": 1, "F311del": 1}}	\N
7473756	7473439	Q237E/R668C	{"CFTR": {"Q237E": 1, "R668C": 1}}	\N
7473757	7473439	D1152H/R933G	{"CFTR": {"R933G": 1, "D1152H": 1}}	\N
7473758	7473439	F311del/G194R(G>C)	{"CFTR": {"F311del": 1, "G194R(G>C)": 1}}	\N
7473759	7473439	G551D/V754M	{"CFTR": {"G551D": 1, "V754M": 1}}	\N
7473760	7473439	L320V/V562I	{"CFTR": {"L320V": 1, "V562I": 1}}	\N
7473761	7473439	G1244E/M952I(G>T)	{"CFTR": {"G1244E": 1, "M952I(G>T)": 1}}	\N
7473762	7473439	R1070Q/S945L	{"CFTR": {"S945L": 1, "R1070Q": 1}}	\N
7473763	7473439	2789+5G->A/H939R	{"CFTR": {"H939R": 1, "2789+5G->A": 1}}	\N
7473764	7473439	3849+10kbC->T/R117H	{"CFTR": {"R117H": 1, "3849+10kbC->T": 1}}	\N
7473765	7473439	3849+10kbC->T/R117G	{"CFTR": {"R117G": 1, "3849+10kbC->T": 1}}	\N
7473766	7473439	D924N/D924N	{"CFTR": {"D924N": 2}}	\N
7473767	7473439	3272-26A->G/D1152H	{"CFTR": {"D1152H": 1, "3272-26A->G": 1}}	\N
7473768	7473439	R668C/S549R(A>C)	{"CFTR": {"R668C": 1, "S549R(A>C)": 1}}	\N
7473905	7473439	V232D/V232D	{"CFTR": {"V232D": 2}}	\N
7473769	7473439	3849+10kbC->T/R117C	{"CFTR": {"R117C": 1, "3849+10kbC->T": 1}}	\N
7473770	7473439	D110E/L1480P	{"CFTR": {"D110E": 1, "L1480P": 1}}	\N
7473771	7473439	E193K/T1053I	{"CFTR": {"E193K": 1, "T1053I": 1}}	\N
7473772	7473439	D924N/G551D	{"CFTR": {"D924N": 1, "G551D": 1}}	\N
7473773	7473439	G551D/S549R(A>C)	{"CFTR": {"G551D": 1, "S549R(A>C)": 1}}	\N
7473774	7473439	R117L/V562I	{"CFTR": {"R117L": 1, "V562I": 1}}	\N
7473775	7473439	G551S/S945L	{"CFTR": {"G551S": 1, "S945L": 1}}	\N
7473776	7473439	D579G/L206W	{"CFTR": {"D579G": 1, "L206W": 1}}	\N
7473777	7473439	D924N/V1293G	{"CFTR": {"D924N": 1, "V1293G": 1}}	\N
7473778	7473439	I148T/S977F	{"CFTR": {"I148T": 1, "S977F": 1}}	\N
7473779	7473439	A120T/K1060T	{"CFTR": {"A120T": 1, "K1060T": 1}}	\N
7473780	7473439	Q237H/R668C	{"CFTR": {"Q237H": 1, "R668C": 1}}	\N
7473781	7473439	D924N/G551S	{"CFTR": {"D924N": 1, "G551S": 1}}	\N
7473782	7473439	S589N/S1159F	{"CFTR": {"S589N": 1, "S1159F": 1}}	\N
7473783	7473439	F311del/I807M	{"CFTR": {"I807M": 1, "F311del": 1}}	\N
7473784	7473439	M152V/R170H	{"CFTR": {"M152V": 1, "R170H": 1}}	\N
7473785	7473439	P67L/V1293G	{"CFTR": {"P67L": 1, "V1293G": 1}}	\N
7473786	7473439	G970D/Q237H	{"CFTR": {"G970D": 1, "Q237H": 1}}	\N
7473787	7473439	G970D/Q237E	{"CFTR": {"G970D": 1, "Q237E": 1}}	\N
7473788	7473439	S589N/S1159P	{"CFTR": {"S589N": 1, "S1159P": 1}}	\N
7473789	7473439	F1052V/I1027T	{"CFTR": {"F1052V": 1, "I1027T": 1}}	\N
7473790	7473439	L206W/M952I(G>T)	{"CFTR": {"L206W": 1, "M952I(G>T)": 1}}	\N
7473791	7473439	D924N/Y1014C	{"CFTR": {"D924N": 1, "Y1014C": 1}}	\N
7473792	7473439	A234D/R170H	{"CFTR": {"A234D": 1, "R170H": 1}}	\N
7473793	7473439	M952I(G>C)/S549N	{"CFTR": {"S549N": 1, "M952I(G>C)": 1}}	\N
7473794	7473439	711+3A->G/R347H	{"CFTR": {"R347H": 1, "711+3A->G": 1}}	\N
7473795	7473439	I1027T/R933G	{"CFTR": {"R933G": 1, "I1027T": 1}}	\N
7473796	7473439	F311del/S1159P	{"CFTR": {"S1159P": 1, "F311del": 1}}	\N
7473797	7473439	G194R(G>C)/V562I	{"CFTR": {"V562I": 1, "G194R(G>C)": 1}}	\N
7473798	7473439	711+3A->G/R347L	{"CFTR": {"R347L": 1, "711+3A->G": 1}}	\N
7473799	7473439	F311del/S1159F	{"CFTR": {"S1159F": 1, "F311del": 1}}	\N
7473800	7473439	G314E/G551D	{"CFTR": {"G314E": 1, "G551D": 1}}	\N
7473801	7473439	L1480P/R792G	{"CFTR": {"R792G": 1, "L1480P": 1}}	\N
7473802	7473439	R1283M/S1159F	{"CFTR": {"R1283M": 1, "S1159F": 1}}	\N
7473803	7473439	D192G/G1244E	{"CFTR": {"D192G": 1, "G1244E": 1}}	\N
7473804	7473439	R1283M/S1159P	{"CFTR": {"R1283M": 1, "S1159P": 1}}	\N
7473805	7473439	G970D/Y1032C	{"CFTR": {"G970D": 1, "Y1032C": 1}}	\N
7473806	7473439	G314E/G551S	{"CFTR": {"G314E": 1, "G551S": 1}}	\N
7473807	7473439	G576A/I1139V	{"CFTR": {"G576A": 1, "I1139V": 1}}	\N
7473808	7473439	L967S/M952I(G>A)	{"CFTR": {"L967S": 1, "M952I(G>A)": 1}}	\N
7473809	7473439	F1052V/R74W	{"CFTR": {"R74W": 1, "F1052V": 1}}	\N
7473810	7473439	R347H/T1053I	{"CFTR": {"R347H": 1, "T1053I": 1}}	\N
7473811	7473439	2789+5G->A/R117C	{"CFTR": {"R117C": 1, "2789+5G->A": 1}}	\N
7473812	7473439	2789+5G->A/R117G	{"CFTR": {"R117G": 1, "2789+5G->A": 1}}	\N
7473813	7473439	2789+5G->A/R117H	{"CFTR": {"R117H": 1, "2789+5G->A": 1}}	\N
7473814	7473439	E56K/S737F	{"CFTR": {"E56K": 1, "S737F": 1}}	\N
7473815	7473439	2789+5G->A/R117L	{"CFTR": {"R117L": 1, "2789+5G->A": 1}}	\N
7473816	7473439	2789+5G->A/R117P	{"CFTR": {"R117P": 1, "2789+5G->A": 1}}	\N
7473817	7473439	3272-26A->G/R1283M	{"CFTR": {"R1283M": 1, "3272-26A->G": 1}}	\N
7473818	7473439	2789+5G->A/F1074L	{"CFTR": {"F1074L": 1, "2789+5G->A": 1}}	\N
7473819	7473439	A120T/S1255P	{"CFTR": {"A120T": 1, "S1255P": 1}}	\N
7473820	7473439	D192G/W1282R	{"CFTR": {"D192G": 1, "W1282R": 1}}	\N
7473821	7473439	R1070Q/V754M	{"CFTR": {"V754M": 1, "R1070Q": 1}}	\N
7473822	7473439	L997F(G>C)/S945L	{"CFTR": {"S945L": 1, "L997F(G>C)": 1}}	\N
7473823	7473439	S737F/V232D	{"CFTR": {"S737F": 1, "V232D": 1}}	\N
7473824	7473439	G1244E/G1349D	{"CFTR": {"G1244E": 1, "G1349D": 1}}	\N
7473825	7473439	711+3A->G/W1282R	{"CFTR": {"W1282R": 1, "711+3A->G": 1}}	\N
7473826	7473439	2789+5G->A/R553Q	{"CFTR": {"R553Q": 1, "2789+5G->A": 1}}	\N
7473827	7473439	E56K/V232D	{"CFTR": {"E56K": 1, "V232D": 1}}	\N
7473828	7473439	R117P/Y1032C	{"CFTR": {"R117P": 1, "Y1032C": 1}}	\N
7473829	7473439	A120T/H1375P	{"CFTR": {"A120T": 1, "H1375P": 1}}	\N
7473830	7473439	2789+5G->A/Y1032C	{"CFTR": {"Y1032C": 1, "2789+5G->A": 1}}	\N
7473831	7473439	G1349D/T338I	{"CFTR": {"T338I": 1, "G1349D": 1}}	\N
7473832	7473439	R117G/V562I	{"CFTR": {"R117G": 1, "V562I": 1}}	\N
7473833	7473439	S549N/S1255P	{"CFTR": {"S549N": 1, "S1255P": 1}}	\N
7473834	7473439	I1139V/S1159P	{"CFTR": {"I1139V": 1, "S1159P": 1}}	\N
7473835	7473439	F311L/R1283M	{"CFTR": {"F311L": 1, "R1283M": 1}}	\N
7473836	7473439	R170H/V562I	{"CFTR": {"R170H": 1, "V562I": 1}}	\N
7473837	7473439	I1139V/S1159F	{"CFTR": {"I1139V": 1, "S1159F": 1}}	\N
7473838	7473439	A1067T/M952I(G>A)	{"CFTR": {"A1067T": 1, "M952I(G>A)": 1}}	\N
7473839	7473439	F508C,S1251N/T338I	{"CFTR": {"T338I": 1, "F508C,S1251N": 1}}	\N
7473840	7473439	F1052V/G1069R	{"CFTR": {"F1052V": 1, "G1069R": 1}}	\N
7473841	7473439	G178R/G551S	{"CFTR": {"G178R": 1, "G551S": 1}}	\N
7473842	7473439	M952I(G>T)/S549N	{"CFTR": {"S549N": 1, "M952I(G>T)": 1}}	\N
7473843	7473439	G970D/S549R(A>C)	{"CFTR": {"G970D": 1, "S549R(A>C)": 1}}	\N
7473844	7473439	H939R/M152V	{"CFTR": {"H939R": 1, "M152V": 1}}	\N
7473845	7473439	D110H/M952T	{"CFTR": {"D110H": 1, "M952T": 1}}	\N
7473846	7473439	2789+5G->A/L206W	{"CFTR": {"L206W": 1, "2789+5G->A": 1}}	\N
7473847	7473439	E831X/G970D	{"CFTR": {"E831X": 1, "G970D": 1}}	\N
7473848	7473439	R347L/S549N	{"CFTR": {"R347L": 1, "S549N": 1}}	\N
7473849	7473439	A1067T/E193K	{"CFTR": {"E193K": 1, "A1067T": 1}}	\N
7473850	7473439	G178R/G551D	{"CFTR": {"G178R": 1, "G551D": 1}}	\N
7473851	7473439	I175V/T338I	{"CFTR": {"I175V": 1, "T338I": 1}}	\N
7473852	7473439	H939R/V232D	{"CFTR": {"H939R": 1, "V232D": 1}}	\N
7473853	7473439	R553Q/Y1032C	{"CFTR": {"R553Q": 1, "Y1032C": 1}}	\N
7473854	7473439	R117H/V562I	{"CFTR": {"R117H": 1, "V562I": 1}}	\N
7473855	7473439	G178E/L206W	{"CFTR": {"G178E": 1, "L206W": 1}}	\N
7473856	7473439	G194R(G>A)/S1255P	{"CFTR": {"S1255P": 1, "G194R(G>A)": 1}}	\N
7473857	7473439	711+3A->G/R170H	{"CFTR": {"R170H": 1, "711+3A->G": 1}}	\N
7473858	7473439	F311del/G1069R	{"CFTR": {"G1069R": 1, "F311del": 1}}	\N
7473859	7473439	R553Q/R553Q	{"CFTR": {"R553Q": 2}}	\N
7473860	7473439	I175V/V1293G	{"CFTR": {"I175V": 1, "V1293G": 1}}	\N
7473861	7473439	3272-26A->G/L320V	{"CFTR": {"L320V": 1, "3272-26A->G": 1}}	\N
7473862	7473439	M952I(G>C)/R347H	{"CFTR": {"R347H": 1, "M952I(G>C)": 1}}	\N
7473863	7473439	G194R(G>C)/L206W	{"CFTR": {"L206W": 1, "G194R(G>C)": 1}}	\N
7473864	7473439	M952I(G>C)/R347L	{"CFTR": {"R347L": 1, "M952I(G>C)": 1}}	\N
7473865	7473439	R74W/S945L	{"CFTR": {"R74W": 1, "S945L": 1}}	\N
7473866	7473439	D1270N/S977F	{"CFTR": {"S977F": 1, "D1270N": 1}}	\N
7473867	7473439	G314E/L1480P	{"CFTR": {"G314E": 1, "L1480P": 1}}	\N
7473868	7473439	G1349D/R1162L	{"CFTR": {"G1349D": 1, "R1162L": 1}}	\N
7473869	7473439	G194R(G>C)/Q237E	{"CFTR": {"Q237E": 1, "G194R(G>C)": 1}}	\N
7473870	7473439	F311del/I148T	{"CFTR": {"I148T": 1, "F311del": 1}}	\N
7473871	7473439	R1283M/V232D	{"CFTR": {"V232D": 1, "R1283M": 1}}	\N
7473872	7473439	L1480P/R352Q	{"CFTR": {"R352Q": 1, "L1480P": 1}}	\N
7473873	7473439	G551D/G1349D	{"CFTR": {"G551D": 1, "G1349D": 1}}	\N
7473874	7473439	G194R(G>C)/Q237H	{"CFTR": {"Q237H": 1, "G194R(G>C)": 1}}	\N
7473875	7473439	F1074L/Q237H	{"CFTR": {"Q237H": 1, "F1074L": 1}}	\N
7473876	7473439	E56K/G178R	{"CFTR": {"E56K": 1, "G178R": 1}}	\N
7473877	7473439	H939R/S737F	{"CFTR": {"H939R": 1, "S737F": 1}}	\N
7473878	7473439	E56K/M152V	{"CFTR": {"E56K": 1, "M152V": 1}}	\N
7473879	7473439	G1349D/V1293G	{"CFTR": {"G1349D": 1, "V1293G": 1}}	\N
7473880	7473439	L997F(G>T)/S945L	{"CFTR": {"S945L": 1, "L997F(G>T)": 1}}	\N
7473881	7473439	M952I(G>A)/M952T	{"CFTR": {"M952T": 1, "M952I(G>A)": 1}}	\N
7473882	7473439	3849+10kbC->T/H939R	{"CFTR": {"H939R": 1, "3849+10kbC->T": 1}}	\N
7473883	7473439	E831X/R352Q	{"CFTR": {"E831X": 1, "R352Q": 1}}	\N
7473884	7473439	F1074L/Q237E	{"CFTR": {"Q237E": 1, "F1074L": 1}}	\N
7473885	7473439	I1139V/R792G	{"CFTR": {"R792G": 1, "I1139V": 1}}	\N
7473886	7473439	R117P/R117P	{"CFTR": {"R117P": 2}}	\N
7473887	7473439	F311del/G194R(G>A)	{"CFTR": {"F311del": 1, "G194R(G>A)": 1}}	\N
7473888	7473439	A1067T/M952I(G>C)	{"CFTR": {"A1067T": 1, "M952I(G>C)": 1}}	\N
7473889	7473439	I1027T/S1251N	{"CFTR": {"I1027T": 1, "S1251N": 1}}	\N
7473890	7473439	R117P/R553Q	{"CFTR": {"R117P": 1, "R553Q": 1}}	\N
7473891	7473439	A1067T/F311del	{"CFTR": {"A1067T": 1, "F311del": 1}}	\N
7473892	7473439	E822K/L967S	{"CFTR": {"E822K": 1, "L967S": 1}}	\N
7473893	7473439	R75Q/V1293G	{"CFTR": {"R75Q": 1, "V1293G": 1}}	\N
7473894	7473439	M952I(G>T)/R347H	{"CFTR": {"R347H": 1, "M952I(G>T)": 1}}	\N
7473895	7473439	3272-26A->G/L997F(G>C)	{"CFTR": {"L997F(G>C)": 1, "3272-26A->G": 1}}	\N
7473896	7473439	A1067T/Q1291R	{"CFTR": {"A1067T": 1, "Q1291R": 1}}	\N
7473897	7473439	2789+5G->A/E56K	{"CFTR": {"E56K": 1, "2789+5G->A": 1}}	\N
7473898	7473439	M952I(G>T)/R347L	{"CFTR": {"R347L": 1, "M952I(G>T)": 1}}	\N
7473899	7473439	R553Q/R1162L	{"CFTR": {"R553Q": 1, "R1162L": 1}}	\N
7473900	7473439	F311L/L997F(G>C)	{"CFTR": {"F311L": 1, "L997F(G>C)": 1}}	\N
7473901	7473439	3849+10kbC->T/D579G	{"CFTR": {"D579G": 1, "3849+10kbC->T": 1}}	\N
7473902	7473439	3849+10kbC->T/L997F(G>T)	{"CFTR": {"L997F(G>T)": 1, "3849+10kbC->T": 1}}	\N
7473903	7473439	S549R(A>C)/T338I	{"CFTR": {"T338I": 1, "S549R(A>C)": 1}}	\N
7473904	7473439	F1074L/F1074L	{"CFTR": {"F1074L": 2}}	\N
7473906	7473439	H939R/Y1014C	{"CFTR": {"H939R": 1, "Y1014C": 1}}	\N
7473907	7473439	G970D/V754M	{"CFTR": {"G970D": 1, "V754M": 1}}	\N
7473908	7473439	G194R(G>A)/Q1291R	{"CFTR": {"Q1291R": 1, "G194R(G>A)": 1}}	\N
7473909	7473439	A455E/S1159F	{"CFTR": {"A455E": 1, "S1159F": 1}}	\N
7473910	7473439	E56K/G178E	{"CFTR": {"E56K": 1, "G178E": 1}}	\N
7473911	7473439	E56K/G194R(G>C)	{"CFTR": {"E56K": 1, "G194R(G>C)": 1}}	\N
7473912	7473439	G551S/G1249R(G>A)	{"CFTR": {"G551S": 1, "G1249R(G>A)": 1}}	\N
7473913	7473439	D1270N/E193K	{"CFTR": {"E193K": 1, "D1270N": 1}}	\N
7473914	7473439	D192G/I1027T	{"CFTR": {"D192G": 1, "I1027T": 1}}	\N
7473915	7473439	H939R/R668C	{"CFTR": {"H939R": 1, "R668C": 1}}	\N
7473916	7473439	M952I(G>A)/R1283M	{"CFTR": {"R1283M": 1, "M952I(G>A)": 1}}	\N
7473917	7473439	F508C,S1251N/L320V	{"CFTR": {"L320V": 1, "F508C,S1251N": 1}}	\N
7473918	7473439	E56K/R668C	{"CFTR": {"E56K": 1, "R668C": 1}}	\N
7473919	7473439	Q359R/R74W	{"CFTR": {"R74W": 1, "Q359R": 1}}	\N
7473920	7473439	M952I(G>T)/V232D	{"CFTR": {"V232D": 1, "M952I(G>T)": 1}}	\N
7473921	7473439	A455E/R352Q	{"CFTR": {"A455E": 1, "R352Q": 1}}	\N
7473922	7473439	F311del/R792G	{"CFTR": {"R792G": 1, "F311del": 1}}	\N
7473923	7473439	A455E/S1159P	{"CFTR": {"A455E": 1, "S1159P": 1}}	\N
7473924	7473439	E831X/S1159P	{"CFTR": {"E831X": 1, "S1159P": 1}}	\N
7473925	7473439	K1060T/L206W	{"CFTR": {"L206W": 1, "K1060T": 1}}	\N
7473926	7473439	L1480P/S1159P	{"CFTR": {"L1480P": 1, "S1159P": 1}}	\N
7473927	7473439	D924N/M952T	{"CFTR": {"D924N": 1, "M952T": 1}}	\N
7473928	7473439	L320V/Q237H	{"CFTR": {"L320V": 1, "Q237H": 1}}	\N
7473929	7473439	Q359R/R75Q	{"CFTR": {"R75Q": 1, "Q359R": 1}}	\N
7473930	7473439	L320V/Q237E	{"CFTR": {"L320V": 1, "Q237E": 1}}	\N
7473931	7473439	P67L/T338I	{"CFTR": {"P67L": 1, "T338I": 1}}	\N
7473932	7473439	711+3A->G/R1070W	{"CFTR": {"R1070W": 1, "711+3A->G": 1}}	\N
7473933	7473439	711+3A->G/R1070Q	{"CFTR": {"R1070Q": 1, "711+3A->G": 1}}	\N
7473934	7473439	G1249R(G>C)/L967S	{"CFTR": {"L967S": 1, "G1249R(G>C)": 1}}	\N
7473935	7473439	R117C/V562I	{"CFTR": {"R117C": 1, "V562I": 1}}	\N
7473936	7473439	I807M/R1283M	{"CFTR": {"I807M": 1, "R1283M": 1}}	\N
7473937	7473439	A120T/F311L	{"CFTR": {"A120T": 1, "F311L": 1}}	\N
7473938	7473439	I807M/S589N	{"CFTR": {"I807M": 1, "S589N": 1}}	\N
7473939	7473439	E831X/S1159F	{"CFTR": {"E831X": 1, "S1159F": 1}}	\N
7473940	7473439	L1480P/S1159F	{"CFTR": {"L1480P": 1, "S1159F": 1}}	\N
7473941	7473439	R553Q/T338I	{"CFTR": {"R553Q": 1, "T338I": 1}}	\N
7473942	7473439	S1159F/W1282R	{"CFTR": {"S1159F": 1, "W1282R": 1}}	\N
7473943	7473439	R1070W/S549R(A>C)	{"CFTR": {"R1070W": 1, "S549R(A>C)": 1}}	\N
7473944	7473439	V232D/Y1014C	{"CFTR": {"V232D": 1, "Y1014C": 1}}	\N
7473945	7473439	M152V/R74W	{"CFTR": {"R74W": 1, "M152V": 1}}	\N
7473946	7473439	E831X/R1070Q	{"CFTR": {"E831X": 1, "R1070Q": 1}}	\N
7473947	7473439	G1069R/L997F(G>C)	{"CFTR": {"G1069R": 1, "L997F(G>C)": 1}}	\N
7473948	7473439	G551S/P67L	{"CFTR": {"P67L": 1, "G551S": 1}}	\N
7473949	7473439	E831X/R1070W	{"CFTR": {"E831X": 1, "R1070W": 1}}	\N
7473950	7473439	K1060T/S589N	{"CFTR": {"S589N": 1, "K1060T": 1}}	\N
7473951	7473439	T1053I/T1053I	{"CFTR": {"T1053I": 2}}	\N
7473952	7473439	F508C,S1251N/V1293G	{"CFTR": {"V1293G": 1, "F508C,S1251N": 1}}	\N
7473953	7473439	G178E/R1283M	{"CFTR": {"G178E": 1, "R1283M": 1}}	\N
7473954	7473439	G194R(G>A)/S1251N	{"CFTR": {"S1251N": 1, "G194R(G>A)": 1}}	\N
7473955	7473439	M952T/R668C	{"CFTR": {"M952T": 1, "R668C": 1}}	\N
7473956	7473439	E56K/G1244E	{"CFTR": {"E56K": 1, "G1244E": 1}}	\N
7473957	7473439	H1375P/L967S	{"CFTR": {"L967S": 1, "H1375P": 1}}	\N
7473958	7473439	M952I(G>C)/V232D	{"CFTR": {"V232D": 1, "M952I(G>C)": 1}}	\N
7473959	7473439	D1152H/S549R(T>G)	{"CFTR": {"D1152H": 1, "S549R(T>G)": 1}}	\N
7473960	7473439	I807M/L206W	{"CFTR": {"I807M": 1, "L206W": 1}}	\N
7473961	7473439	A349V/G178R	{"CFTR": {"A349V": 1, "G178R": 1}}	\N
7473962	7473439	G1349D/L320V	{"CFTR": {"L320V": 1, "G1349D": 1}}	\N
7473963	7473439	2789+5G->A/I175V	{"CFTR": {"I175V": 1, "2789+5G->A": 1}}	\N
7473964	7473439	I1027T/Q1291R	{"CFTR": {"I1027T": 1, "Q1291R": 1}}	\N
7473965	7473439	2789+5G->A/Q359R	{"CFTR": {"Q359R": 1, "2789+5G->A": 1}}	\N
7473966	7473439	D1152H/G314E	{"CFTR": {"G314E": 1, "D1152H": 1}}	\N
7473967	7473439	D924N/V562I	{"CFTR": {"D924N": 1, "V562I": 1}}	\N
7473968	7473439	G178R/V562I	{"CFTR": {"G178R": 1, "V562I": 1}}	\N
7473969	7473439	S1255P/V754M	{"CFTR": {"V754M": 1, "S1255P": 1}}	\N
7473970	7473439	A349V/D192G	{"CFTR": {"A349V": 1, "D192G": 1}}	\N
7473971	7473439	I1139V/R352Q	{"CFTR": {"R352Q": 1, "I1139V": 1}}	\N
7473972	7473439	F508C/P67L	{"CFTR": {"P67L": 1, "F508C": 1}}	\N
7473973	7473439	A455E/D1270N	{"CFTR": {"A455E": 1, "D1270N": 1}}	\N
7473974	7473439	G178E/S589N	{"CFTR": {"G178E": 1, "S589N": 1}}	\N
7473975	7473439	S737F/S737F	{"CFTR": {"S737F": 2}}	\N
7473976	7473439	E56K/F508C	{"CFTR": {"E56K": 1, "F508C": 1}}	\N
7473977	7473439	G1349D/Y1032C	{"CFTR": {"G1349D": 1, "Y1032C": 1}}	\N
7473978	7473439	G1244E/L967S	{"CFTR": {"L967S": 1, "G1244E": 1}}	\N
7473979	7473439	R1162L/T1053I	{"CFTR": {"R1162L": 1, "T1053I": 1}}	\N
7473980	7473439	D579G/I175V	{"CFTR": {"D579G": 1, "I175V": 1}}	\N
7473981	7473439	G551D/L967S	{"CFTR": {"G551D": 1, "L967S": 1}}	\N
7473982	7473439	D1152H/H1375P	{"CFTR": {"D1152H": 1, "H1375P": 1}}	\N
7473983	7473439	I1027T/S1255P	{"CFTR": {"I1027T": 1, "S1255P": 1}}	\N
7473984	7473439	F1052V/R75Q	{"CFTR": {"R75Q": 1, "F1052V": 1}}	\N
7473985	7473439	M152V/R75Q	{"CFTR": {"R75Q": 1, "M152V": 1}}	\N
7473986	7473439	R1070W/S945L	{"CFTR": {"S945L": 1, "R1070W": 1}}	\N
7473987	7473439	711+3A->G/D110H	{"CFTR": {"D110H": 1, "711+3A->G": 1}}	\N
7473988	7473439	T338I/Y1014C	{"CFTR": {"T338I": 1, "Y1014C": 1}}	\N
7473989	7473439	D192G/S977F	{"CFTR": {"D192G": 1, "S977F": 1}}	\N
7473990	7473439	G1249R(G>C)/I1139V	{"CFTR": {"I1139V": 1, "G1249R(G>C)": 1}}	\N
7473991	7473439	G314E/L320V	{"CFTR": {"G314E": 1, "L320V": 1}}	\N
7473992	7473439	711+3A->G/D110E	{"CFTR": {"D110E": 1, "711+3A->G": 1}}	\N
7473993	7473439	G551D/R933G	{"CFTR": {"G551D": 1, "R933G": 1}}	\N
7473994	7473439	E822K/G1249R(G>C)	{"CFTR": {"E822K": 1, "G1249R(G>C)": 1}}	\N
7473995	7473439	F311del/V232D	{"CFTR": {"V232D": 1, "F311del": 1}}	\N
7473996	7473439	G551S/Y1032C	{"CFTR": {"G551S": 1, "Y1032C": 1}}	\N
7473997	7473439	R117H/Y1032C	{"CFTR": {"R117H": 1, "Y1032C": 1}}	\N
7473998	7473439	R117P/T338I	{"CFTR": {"R117P": 1, "T338I": 1}}	\N
7473999	7473439	F1074L/S589N	{"CFTR": {"S589N": 1, "F1074L": 1}}	\N
7474000	7473439	G576A/M952I(G>T)	{"CFTR": {"G576A": 1, "M952I(G>T)": 1}}	\N
7474001	7473439	G314E/L997F(G>T)	{"CFTR": {"G314E": 1, "L997F(G>T)": 1}}	\N
7474002	7473439	G551S/S549R(A>C)	{"CFTR": {"G551S": 1, "S549R(A>C)": 1}}	\N
7474003	7473439	G1349D/R553Q	{"CFTR": {"R553Q": 1, "G1349D": 1}}	\N
7474004	7473439	F1074L/V562I	{"CFTR": {"V562I": 1, "F1074L": 1}}	\N
7474005	7473439	A455E/R792G	{"CFTR": {"A455E": 1, "R792G": 1}}	\N
7474006	7473439	E822K/Y1032C	{"CFTR": {"E822K": 1, "Y1032C": 1}}	\N
7474007	7473439	A120T/A1067T	{"CFTR": {"A120T": 1, "A1067T": 1}}	\N
7474008	7473439	F1052V/G194R(G>A)	{"CFTR": {"F1052V": 1, "G194R(G>A)": 1}}	\N
7474009	7473439	F508C/V754M	{"CFTR": {"F508C": 1, "V754M": 1}}	\N
7474010	7473439	G1249R(G>A)/I1027T	{"CFTR": {"I1027T": 1, "G1249R(G>A)": 1}}	\N
7474011	7473439	M152V/S549N	{"CFTR": {"M152V": 1, "S549N": 1}}	\N
7474012	7473439	G1349D/R117L	{"CFTR": {"R117L": 1, "G1349D": 1}}	\N
7474013	7473439	M952I(G>T)/R74W	{"CFTR": {"R74W": 1, "M952I(G>T)": 1}}	\N
7474014	7473439	F508C/I1139V	{"CFTR": {"F508C": 1, "I1139V": 1}}	\N
7474015	7473439	F508C/M952I(G>T)	{"CFTR": {"F508C": 1, "M952I(G>T)": 1}}	\N
7474016	7473439	L206W/M952I(G>C)	{"CFTR": {"L206W": 1, "M952I(G>C)": 1}}	\N
7474017	7473439	A349V/G178E	{"CFTR": {"A349V": 1, "G178E": 1}}	\N
7474018	7473439	D110H/R1283M	{"CFTR": {"D110H": 1, "R1283M": 1}}	\N
7474019	7473439	G1069R/M952T	{"CFTR": {"M952T": 1, "G1069R": 1}}	\N
7474020	7473439	A349V/G194R(G>A)	{"CFTR": {"A349V": 1, "G194R(G>A)": 1}}	\N
7474021	7473439	G1349D/R117P	{"CFTR": {"R117P": 1, "G1349D": 1}}	\N
7474022	7473439	G1349D/R117C	{"CFTR": {"R117C": 1, "G1349D": 1}}	\N
7474023	7473439	R347H/R347H	{"CFTR": {"R347H": 2}}	\N
7474024	7473439	D924N/R1283M	{"CFTR": {"D924N": 1, "R1283M": 1}}	\N
7474025	7473439	A120T/Q1291R	{"CFTR": {"A120T": 1, "Q1291R": 1}}	\N
7474026	7473439	G1349D/R117G	{"CFTR": {"R117G": 1, "G1349D": 1}}	\N
7474027	7473439	R347H/R347L	{"CFTR": {"R347H": 1, "R347L": 1}}	\N
7474028	7473439	A1067T/S1255P	{"CFTR": {"A1067T": 1, "S1255P": 1}}	\N
7474029	7473439	G1349D/R117H	{"CFTR": {"R117H": 1, "G1349D": 1}}	\N
7474030	7473439	S549R(A>C)/V1293G	{"CFTR": {"V1293G": 1, "S549R(A>C)": 1}}	\N
7474031	7473439	F311del/M152V	{"CFTR": {"M152V": 1, "F311del": 1}}	\N
7474032	7473439	F508C,S1251N/Q359R	{"CFTR": {"Q359R": 1, "F508C,S1251N": 1}}	\N
7474033	7473439	R75Q/V562I	{"CFTR": {"R75Q": 1, "V562I": 1}}	\N
7474034	7473439	F311L/M952T	{"CFTR": {"F311L": 1, "M952T": 1}}	\N
7474035	7473439	3272-26A->G/D924N	{"CFTR": {"D924N": 1, "3272-26A->G": 1}}	\N
7474036	7473439	A1067T/S549R(T>G)	{"CFTR": {"A1067T": 1, "S549R(T>G)": 1}}	\N
7474037	7473439	G1249R(G>A)/R1070W	{"CFTR": {"R1070W": 1, "G1249R(G>A)": 1}}	\N
7474038	7473439	K1060T/M952I(G>A)	{"CFTR": {"K1060T": 1, "M952I(G>A)": 1}}	\N
7474039	7473439	I148T/K1060T	{"CFTR": {"I148T": 1, "K1060T": 1}}	\N
7474040	7473439	F508C,S1251N/H939R	{"CFTR": {"H939R": 1, "F508C,S1251N": 1}}	\N
7474041	7473439	G970D/P67L	{"CFTR": {"P67L": 1, "G970D": 1}}	\N
7474042	7473439	R933G/S1255P	{"CFTR": {"R933G": 1, "S1255P": 1}}	\N
7504200	7504184	Asahi	{"G6PD": {"Asahi": 1}}	\N
7474043	7473439	G1244E/R933G	{"CFTR": {"R933G": 1, "G1244E": 1}}	\N
7474044	7473439	E822K/S549R(A>C)	{"CFTR": {"E822K": 1, "S549R(A>C)": 1}}	\N
7474045	7473439	F1074L/I175V	{"CFTR": {"I175V": 1, "F1074L": 1}}	\N
7474046	7473439	G1249R(G>A)/R1070Q	{"CFTR": {"R1070Q": 1, "G1249R(G>A)": 1}}	\N
7474047	7473439	E56K/G194R(G>A)	{"CFTR": {"E56K": 1, "G194R(G>A)": 1}}	\N
7474048	7473439	G551S/G1249R(G>C)	{"CFTR": {"G551S": 1, "G1249R(G>C)": 1}}	\N
7474049	7473439	R117G/R117G	{"CFTR": {"R117G": 2}}	\N
7474050	7473439	R1070W/V754M	{"CFTR": {"V754M": 1, "R1070W": 1}}	\N
7474051	7473439	G178R/R1283M	{"CFTR": {"G178R": 1, "R1283M": 1}}	\N
7474052	7473439	E56K/G1069R	{"CFTR": {"E56K": 1, "G1069R": 1}}	\N
7474053	7473439	R117G/R117H	{"CFTR": {"R117G": 1, "R117H": 1}}	\N
7474054	7473439	M952T/R352Q	{"CFTR": {"M952T": 1, "R352Q": 1}}	\N
7474055	7473439	R117G/R117L	{"CFTR": {"R117G": 1, "R117L": 1}}	\N
7474056	7473439	D579G/V562I	{"CFTR": {"D579G": 1, "V562I": 1}}	\N
7474057	7473439	G178R/I175V	{"CFTR": {"G178R": 1, "I175V": 1}}	\N
7474058	7473439	A349V/G1244E	{"CFTR": {"A349V": 1, "G1244E": 1}}	\N
7474059	7473439	F311del/S737F	{"CFTR": {"S737F": 1, "F311del": 1}}	\N
7474060	7473439	R117G/R117P	{"CFTR": {"R117G": 1, "R117P": 1}}	\N
7474061	7473439	G970D/S945L	{"CFTR": {"G970D": 1, "S945L": 1}}	\N
7474062	7473439	R117G/R553Q	{"CFTR": {"R117G": 1, "R553Q": 1}}	\N
7474063	7473439	R170H/Y1032C	{"CFTR": {"R170H": 1, "Y1032C": 1}}	\N
7474064	7473439	M952T/S1159P	{"CFTR": {"M952T": 1, "S1159P": 1}}	\N
7474065	7473439	L967S/S1251N	{"CFTR": {"L967S": 1, "S1251N": 1}}	\N
7474066	7473439	G1249R(G>C)/V754M	{"CFTR": {"V754M": 1, "G1249R(G>C)": 1}}	\N
7474067	7473439	M952T/S1159F	{"CFTR": {"M952T": 1, "S1159F": 1}}	\N
7474068	7473439	L206W/M952I(G>A)	{"CFTR": {"L206W": 1, "M952I(G>A)": 1}}	\N
7474069	7473439	S945L/T1053I	{"CFTR": {"S945L": 1, "T1053I": 1}}	\N
7474070	7473439	A349V/F508C	{"CFTR": {"A349V": 1, "F508C": 1}}	\N
7474071	7473439	S549N/S549R(T>G)	{"CFTR": {"S549N": 1, "S549R(T>G)": 1}}	\N
7474072	7473439	R117H/R117H	{"CFTR": {"R117H": 2}}	\N
7474073	7473439	D924N/F1074L	{"CFTR": {"D924N": 1, "F1074L": 1}}	\N
7474074	7473439	F1074L/L206W	{"CFTR": {"L206W": 1, "F1074L": 1}}	\N
7474075	7473439	R117G/Y1032C	{"CFTR": {"R117G": 1, "Y1032C": 1}}	\N
7474076	7473439	R117H/R117L	{"CFTR": {"R117H": 1, "R117L": 1}}	\N
7474077	7473439	R117L/R1162L	{"CFTR": {"R117L": 1, "R1162L": 1}}	\N
7474078	7473439	G1249R(G>C)/M952I(G>T)	{"CFTR": {"M952I(G>T)": 1, "G1249R(G>C)": 1}}	\N
7474079	7473439	R170H/R553Q	{"CFTR": {"R170H": 1, "R553Q": 1}}	\N
7474080	7473439	R117H/R117P	{"CFTR": {"R117H": 1, "R117P": 1}}	\N
7474081	7473439	R792G/S589N	{"CFTR": {"R792G": 1, "S589N": 1}}	\N
7474082	7473439	D1152H/G576A	{"CFTR": {"G576A": 1, "D1152H": 1}}	\N
7474083	7473439	I1139V/R668C	{"CFTR": {"R668C": 1, "I1139V": 1}}	\N
7474084	7473439	D110E/F1074L	{"CFTR": {"D110E": 1, "F1074L": 1}}	\N
7474085	7473439	R117H/R553Q	{"CFTR": {"R117H": 1, "R553Q": 1}}	\N
7474086	7473439	711+3A->G/G970D	{"CFTR": {"G970D": 1, "711+3A->G": 1}}	\N
7474087	7473439	F508C,S1251N/R117C	{"CFTR": {"R117C": 1, "F508C,S1251N": 1}}	\N
7474088	7473439	R1283M/S737F	{"CFTR": {"S737F": 1, "R1283M": 1}}	\N
7474089	7473439	G551S/V754M	{"CFTR": {"G551S": 1, "V754M": 1}}	\N
7474090	7473439	F508C,S1251N/R117G	{"CFTR": {"R117G": 1, "F508C,S1251N": 1}}	\N
7474091	7473439	R347L/T1053I	{"CFTR": {"R347L": 1, "T1053I": 1}}	\N
7474092	7473439	F508C,S1251N/R117H	{"CFTR": {"R117H": 1, "F508C,S1251N": 1}}	\N
7474093	7473439	R668C/V562I	{"CFTR": {"R668C": 1, "V562I": 1}}	\N
7474094	7473439	S589N/S737F	{"CFTR": {"S589N": 1, "S737F": 1}}	\N
7474095	7473439	D110H/D1152H	{"CFTR": {"D110H": 1, "D1152H": 1}}	\N
7474096	7473439	F508C,S1251N/R117L	{"CFTR": {"R117L": 1, "F508C,S1251N": 1}}	\N
7474097	7473439	2789+5G->A/V562I	{"CFTR": {"V562I": 1, "2789+5G->A": 1}}	\N
7474098	7473439	G1249R(G>C)/S549R(A>C)	{"CFTR": {"S549R(A>C)": 1, "G1249R(G>C)": 1}}	\N
7474099	7473439	G1249R(G>A)/W1282R	{"CFTR": {"W1282R": 1, "G1249R(G>A)": 1}}	\N
7474100	7473439	3272-26A->G/G551S	{"CFTR": {"G551S": 1, "3272-26A->G": 1}}	\N
7474101	7473439	F508C,S1251N/R117P	{"CFTR": {"R117P": 1, "F508C,S1251N": 1}}	\N
7474102	7473439	R1070Q/S549R(A>C)	{"CFTR": {"R1070Q": 1, "S549R(A>C)": 1}}	\N
7474103	7473439	F508C,S1251N/R553Q	{"CFTR": {"R553Q": 1, "F508C,S1251N": 1}}	\N
7474104	7473439	G1249R(G>C)/G1349D	{"CFTR": {"G1349D": 1, "G1249R(G>C)": 1}}	\N
7474105	7473439	D110E/M952T	{"CFTR": {"D110E": 1, "M952T": 1}}	\N
7474106	7473439	R117L/Y1032C	{"CFTR": {"R117L": 1, "Y1032C": 1}}	\N
7474107	7473439	H1375P/M952I(G>T)	{"CFTR": {"H1375P": 1, "M952I(G>T)": 1}}	\N
7474108	7473439	3272-26A->G/G551D	{"CFTR": {"G551D": 1, "3272-26A->G": 1}}	\N
7474109	7473439	M952I(G>A)/V562I	{"CFTR": {"V562I": 1, "M952I(G>A)": 1}}	\N
7474110	7473439	E822K/R1162L	{"CFTR": {"E822K": 1, "R1162L": 1}}	\N
7474111	7473439	S589N/V232D	{"CFTR": {"S589N": 1, "V232D": 1}}	\N
7474112	7473439	R1070Q/R1162L	{"CFTR": {"R1070Q": 1, "R1162L": 1}}	\N
7474113	7473439	S549N/S1251N	{"CFTR": {"S549N": 1, "S1251N": 1}}	\N
7474114	7473439	R347L/R347L	{"CFTR": {"R347L": 2}}	\N
7474115	7473439	G194R(G>C)/S589N	{"CFTR": {"S589N": 1, "G194R(G>C)": 1}}	\N
7474116	7473439	S549R(A>C)/Y1032C	{"CFTR": {"Y1032C": 1, "S549R(A>C)": 1}}	\N
7474117	7473439	M152V/R347L	{"CFTR": {"M152V": 1, "R347L": 1}}	\N
7474118	7473439	R347H/S549N	{"CFTR": {"R347H": 1, "S549N": 1}}	\N
7474119	7473439	G194R(G>C)/R1283M	{"CFTR": {"R1283M": 1, "G194R(G>C)": 1}}	\N
7474120	7473439	M152V/R347H	{"CFTR": {"M152V": 1, "R347H": 1}}	\N
7474121	7473439	D110H/F1074L	{"CFTR": {"D110H": 1, "F1074L": 1}}	\N
7474122	7473439	D1270N/K1060T	{"CFTR": {"D1270N": 1, "K1060T": 1}}	\N
7474123	7473439	G178E/G551S	{"CFTR": {"G178E": 1, "G551S": 1}}	\N
7474124	7473439	G178E/Q237E	{"CFTR": {"G178E": 1, "Q237E": 1}}	\N
7474125	7473439	A349V/G1069R	{"CFTR": {"A349V": 1, "G1069R": 1}}	\N
7474126	7473439	K1060T/Q237E	{"CFTR": {"Q237E": 1, "K1060T": 1}}	\N
7474127	7473439	F311del/R668C	{"CFTR": {"R668C": 1, "F311del": 1}}	\N
7474128	7473439	G178E/Q237H	{"CFTR": {"G178E": 1, "Q237H": 1}}	\N
7474129	7473439	R933G/S1251N	{"CFTR": {"R933G": 1, "S1251N": 1}}	\N
7474130	7473439	D110E/R1283M	{"CFTR": {"D110E": 1, "R1283M": 1}}	\N
7474131	7473439	K1060T/Q237H	{"CFTR": {"Q237H": 1, "K1060T": 1}}	\N
7474132	7473439	M952I(G>T)/R75Q	{"CFTR": {"R75Q": 1, "M952I(G>T)": 1}}	\N
7474133	7473439	G178E/G551D	{"CFTR": {"G178E": 1, "G551D": 1}}	\N
7474134	7473439	F311L/F1074L	{"CFTR": {"F311L": 1, "F1074L": 1}}	\N
7474135	7473439	G1069R/R1283M	{"CFTR": {"G1069R": 1, "R1283M": 1}}	\N
7474136	7473439	A349V/R75Q	{"CFTR": {"R75Q": 1, "A349V": 1}}	\N
7474137	7473439	I175V/Y1014C	{"CFTR": {"I175V": 1, "Y1014C": 1}}	\N
7474138	7473439	I807M/Q237E	{"CFTR": {"I807M": 1, "Q237E": 1}}	\N
7474139	7473439	L1480P/R170H	{"CFTR": {"R170H": 1, "L1480P": 1}}	\N
7474140	7473439	L967S/S1255P	{"CFTR": {"L967S": 1, "S1255P": 1}}	\N
7474141	7473439	M952T/R792G	{"CFTR": {"M952T": 1, "R792G": 1}}	\N
7474142	7473439	E822K/G1349D	{"CFTR": {"E822K": 1, "G1349D": 1}}	\N
7474143	7473439	L320V/R1283M	{"CFTR": {"L320V": 1, "R1283M": 1}}	\N
7474144	7473439	M952I(G>C)/R75Q	{"CFTR": {"R75Q": 1, "M952I(G>C)": 1}}	\N
7474145	7473439	I807M/Q237H	{"CFTR": {"I807M": 1, "Q237H": 1}}	\N
7474146	7473439	A234D/D192G	{"CFTR": {"A234D": 1, "D192G": 1}}	\N
7474147	7473439	A349V/G194R(G>C)	{"CFTR": {"A349V": 1, "G194R(G>C)": 1}}	\N
7474148	7473439	A234D/G178E	{"CFTR": {"A234D": 1, "G178E": 1}}	\N
7474149	7473439	E831X/R170H	{"CFTR": {"E831X": 1, "R170H": 1}}	\N
7474150	7473439	R117L/R117L	{"CFTR": {"R117L": 2}}	\N
7474151	7473439	A349V/R74W	{"CFTR": {"R74W": 1, "A349V": 1}}	\N
7474152	7473439	R792G/S549R(T>G)	{"CFTR": {"R792G": 1, "S549R(T>G)": 1}}	\N
7474153	7473439	G551S/R1162L	{"CFTR": {"G551S": 1, "R1162L": 1}}	\N
7474154	7473439	R117L/R117P	{"CFTR": {"R117L": 1, "R117P": 1}}	\N
7474155	7473439	A234D/G178R	{"CFTR": {"A234D": 1, "G178R": 1}}	\N
7474156	7473439	G1349D/H939R	{"CFTR": {"H939R": 1, "G1349D": 1}}	\N
7474157	7473439	R117P/R1162L	{"CFTR": {"R117P": 1, "R1162L": 1}}	\N
7474158	7473439	R117L/R553Q	{"CFTR": {"R117L": 1, "R553Q": 1}}	\N
7474159	7473439	F508C/S549R(A>C)	{"CFTR": {"F508C": 1, "S549R(A>C)": 1}}	\N
7474160	7473439	L320V/S589N	{"CFTR": {"L320V": 1, "S589N": 1}}	\N
7474161	7473439	M952I(G>C)/R74W	{"CFTR": {"R74W": 1, "M952I(G>C)": 1}}	\N
7474162	7473439	G314E/R117C	{"CFTR": {"G314E": 1, "R117C": 1}}	\N
7474163	7473439	H939R/T338I	{"CFTR": {"H939R": 1, "T338I": 1}}	\N
7474164	7473439	G314E/R117G	{"CFTR": {"G314E": 1, "R117G": 1}}	\N
7474165	7473439	G314E/R117H	{"CFTR": {"G314E": 1, "R117H": 1}}	\N
7474166	7473439	R117P/S549R(A>C)	{"CFTR": {"R117P": 1, "S549R(A>C)": 1}}	\N
7474167	7473439	E193K/G178R	{"CFTR": {"E193K": 1, "G178R": 1}}	\N
7474168	7473439	G1069R/V232D	{"CFTR": {"V232D": 1, "G1069R": 1}}	\N
7474169	7473439	3849+10kbC->T/D1270N	{"CFTR": {"D1270N": 1, "3849+10kbC->T": 1}}	\N
7474170	7473439	I175V/V232D	{"CFTR": {"I175V": 1, "V232D": 1}}	\N
7474171	7473439	R117L/V754M	{"CFTR": {"R117L": 1, "V754M": 1}}	\N
7474172	7473439	R117G/R1283M	{"CFTR": {"R117G": 1, "R1283M": 1}}	\N
7474173	7473439	711+3A->G/I807M	{"CFTR": {"I807M": 1, "711+3A->G": 1}}	\N
7474174	7473439	G314E/R553Q	{"CFTR": {"G314E": 1, "R553Q": 1}}	\N
7474175	7473439	H939R/S1159F	{"CFTR": {"H939R": 1, "S1159F": 1}}	\N
7474176	7473439	R117L/V1293G	{"CFTR": {"R117L": 1, "V1293G": 1}}	\N
7474177	7473439	F1052V/R170H	{"CFTR": {"R170H": 1, "F1052V": 1}}	\N
7474178	7473439	M952I(G>T)/R1070W	{"CFTR": {"R1070W": 1, "M952I(G>T)": 1}}	\N
7474179	7473439	G1069R/S737F	{"CFTR": {"S737F": 1, "G1069R": 1}}	\N
7474180	7473439	G314E/R117L	{"CFTR": {"G314E": 1, "R117L": 1}}	\N
7474181	7473439	M952I(G>T)/R1070Q	{"CFTR": {"R1070Q": 1, "M952I(G>T)": 1}}	\N
7474182	7473439	H939R/S1159P	{"CFTR": {"H939R": 1, "S1159P": 1}}	\N
7474183	7473439	2789+5G->A/D924N	{"CFTR": {"D924N": 1, "2789+5G->A": 1}}	\N
7474184	7473439	A120T/L967S	{"CFTR": {"A120T": 1, "L967S": 1}}	\N
7474185	7473439	G314E/R117P	{"CFTR": {"G314E": 1, "R117P": 1}}	\N
7474186	7473439	3272-26A->G/T1053I	{"CFTR": {"T1053I": 1, "3272-26A->G": 1}}	\N
7474187	7473439	D192G/I807M	{"CFTR": {"D192G": 1, "I807M": 1}}	\N
7474188	7473439	F311L/T1053I	{"CFTR": {"F311L": 1, "T1053I": 1}}	\N
7474189	7473439	G194R(G>C)/G576A	{"CFTR": {"G576A": 1, "G194R(G>C)": 1}}	\N
7474190	7473439	A455E/L997F(G>T)	{"CFTR": {"A455E": 1, "L997F(G>T)": 1}}	\N
7474191	7473439	G1069R/M152V	{"CFTR": {"M152V": 1, "G1069R": 1}}	\N
7474192	7473439	A349V/S1159P	{"CFTR": {"A349V": 1, "S1159P": 1}}	\N
7474193	7473439	G1069R/T1053I	{"CFTR": {"G1069R": 1, "T1053I": 1}}	\N
7474194	7473439	D1270N/S1255P	{"CFTR": {"D1270N": 1, "S1255P": 1}}	\N
7474195	7473439	I175V/S737F	{"CFTR": {"I175V": 1, "S737F": 1}}	\N
7474196	7473439	G551S/L967S	{"CFTR": {"G551S": 1, "L967S": 1}}	\N
7474197	7473439	A455E/G178E	{"CFTR": {"A455E": 1, "G178E": 1}}	\N
7474198	7473439	2789+5G->A/G551D	{"CFTR": {"G551D": 1, "2789+5G->A": 1}}	\N
7474199	7473439	D579G/M952I(G>C)	{"CFTR": {"D579G": 1, "M952I(G>C)": 1}}	\N
7474200	7473439	E831X/S977F	{"CFTR": {"E831X": 1, "S977F": 1}}	\N
7474201	7473439	F311del/W1282R	{"CFTR": {"W1282R": 1, "F311del": 1}}	\N
7474202	7473439	A1067T/F311L	{"CFTR": {"F311L": 1, "A1067T": 1}}	\N
7474203	7473439	A349V/S1159F	{"CFTR": {"A349V": 1, "S1159F": 1}}	\N
7474204	7473439	A455E/G178R	{"CFTR": {"A455E": 1, "G178R": 1}}	\N
7474205	7473439	2789+5G->A/G551S	{"CFTR": {"G551S": 1, "2789+5G->A": 1}}	\N
7474206	7473439	F311L/M152V	{"CFTR": {"F311L": 1, "M152V": 1}}	\N
7474207	7473439	G551D/H1375P	{"CFTR": {"G551D": 1, "H1375P": 1}}	\N
7474208	7473439	I148T/S1255P	{"CFTR": {"I148T": 1, "S1255P": 1}}	\N
7474209	7473439	L206W/P67L	{"CFTR": {"P67L": 1, "L206W": 1}}	\N
7474210	7473439	G178R/L206W	{"CFTR": {"G178R": 1, "L206W": 1}}	\N
7474211	7473439	R933G/S549R(T>G)	{"CFTR": {"R933G": 1, "S549R(T>G)": 1}}	\N
7474212	7473439	711+3A->G/R792G	{"CFTR": {"R792G": 1, "711+3A->G": 1}}	\N
7474213	7473439	H939R/L320V	{"CFTR": {"H939R": 1, "L320V": 1}}	\N
7474214	7473439	F508C,S1251N/S737F	{"CFTR": {"S737F": 1, "F508C,S1251N": 1}}	\N
7474215	7473439	G551S/G1349D	{"CFTR": {"G551S": 1, "G1349D": 1}}	\N
7474216	7473439	2789+5G->A/L1480P	{"CFTR": {"L1480P": 1, "2789+5G->A": 1}}	\N
7474217	7473439	E193K/F508C	{"CFTR": {"E193K": 1, "F508C": 1}}	\N
7474218	7473439	E822K/I1139V	{"CFTR": {"E822K": 1, "I1139V": 1}}	\N
7474219	7473439	2789+5G->A/F508C,S1251N	{"CFTR": {"2789+5G->A": 1, "F508C,S1251N": 1}}	\N
7474220	7473439	G178R/Q237E	{"CFTR": {"G178R": 1, "Q237E": 1}}	\N
7474221	7473439	G178R/Q237H	{"CFTR": {"G178R": 1, "Q237H": 1}}	\N
7474222	7473439	D192G/R792G	{"CFTR": {"D192G": 1, "R792G": 1}}	\N
7474223	7473439	G194R(G>C)/S549R(A>C)	{"CFTR": {"G194R(G>C)": 1, "S549R(A>C)": 1}}	\N
7474224	7473439	E822K/I175V	{"CFTR": {"E822K": 1, "I175V": 1}}	\N
7474225	7473439	F1074L/V754M	{"CFTR": {"V754M": 1, "F1074L": 1}}	\N
7474226	7473439	E193K/G1244E	{"CFTR": {"E193K": 1, "G1244E": 1}}	\N
7474227	7473439	D192G/F1052V	{"CFTR": {"D192G": 1, "F1052V": 1}}	\N
7474228	7473439	D1270N/M952I(G>T)	{"CFTR": {"D1270N": 1, "M952I(G>T)": 1}}	\N
7474229	7473439	D579G/M952I(G>A)	{"CFTR": {"D579G": 1, "M952I(G>A)": 1}}	\N
7474230	7473439	S1159F/S1251N	{"CFTR": {"S1159F": 1, "S1251N": 1}}	\N
7474231	7473439	V232D/V1293G	{"CFTR": {"V232D": 1, "V1293G": 1}}	\N
7474232	7473439	I1139V/M152V	{"CFTR": {"M152V": 1, "I1139V": 1}}	\N
7474233	7473439	R117C/R1283M	{"CFTR": {"R117C": 1, "R1283M": 1}}	\N
7474234	7473439	E822K/S1251N	{"CFTR": {"E822K": 1, "S1251N": 1}}	\N
7474235	7473439	M152V/S737F	{"CFTR": {"M152V": 1, "S737F": 1}}	\N
7474236	7473439	D110H/D1270N	{"CFTR": {"D110H": 1, "D1270N": 1}}	\N
7474237	7473439	M152V/T1053I	{"CFTR": {"M152V": 1, "T1053I": 1}}	\N
7474238	7473439	G1249R(G>C)/L206W	{"CFTR": {"L206W": 1, "G1249R(G>C)": 1}}	\N
7474239	7473439	A120T/G1349D	{"CFTR": {"A120T": 1, "G1349D": 1}}	\N
7474240	7473439	G1249R(G>C)/Y1032C	{"CFTR": {"Y1032C": 1, "G1249R(G>C)": 1}}	\N
7474241	7473439	E193K/Y1014C	{"CFTR": {"E193K": 1, "Y1014C": 1}}	\N
7474242	7473439	3272-26A->G/E822K	{"CFTR": {"E822K": 1, "3272-26A->G": 1}}	\N
7474243	7473439	E831X/T1053I	{"CFTR": {"E831X": 1, "T1053I": 1}}	\N
7474244	7473439	G314E/H939R	{"CFTR": {"G314E": 1, "H939R": 1}}	\N
7474245	7473439	F1074L/G314E	{"CFTR": {"G314E": 1, "F1074L": 1}}	\N
7474246	7473439	G1249R(G>A)/R74W	{"CFTR": {"R74W": 1, "G1249R(G>A)": 1}}	\N
7474247	7473439	P67L/T1053I	{"CFTR": {"P67L": 1, "T1053I": 1}}	\N
7474248	7473439	I1139V/V232D	{"CFTR": {"V232D": 1, "I1139V": 1}}	\N
7474249	7473439	P67L/V562I	{"CFTR": {"P67L": 1, "V562I": 1}}	\N
7474250	7473439	G1249R(G>C)/S1255P	{"CFTR": {"S1255P": 1, "G1249R(G>C)": 1}}	\N
7474251	7473439	A120T/M952I(G>C)	{"CFTR": {"A120T": 1, "M952I(G>C)": 1}}	\N
7474252	7473439	D579G/L967S	{"CFTR": {"D579G": 1, "L967S": 1}}	\N
7474253	7473439	711+3A->G/I148T	{"CFTR": {"I148T": 1, "711+3A->G": 1}}	\N
7474254	7473439	R117H/V754M	{"CFTR": {"R117H": 1, "V754M": 1}}	\N
7474255	7473439	K1060T/M952I(G>C)	{"CFTR": {"K1060T": 1, "M952I(G>C)": 1}}	\N
7474256	7473439	K1060T/S549R(T>G)	{"CFTR": {"K1060T": 1, "S549R(T>G)": 1}}	\N
7474257	7473439	R117L/S549R(A>C)	{"CFTR": {"R117L": 1, "S549R(A>C)": 1}}	\N
7474258	7473439	R117P/V1293G	{"CFTR": {"R117P": 1, "V1293G": 1}}	\N
7474259	7473439	E56K/R74W	{"CFTR": {"E56K": 1, "R74W": 1}}	\N
7474260	7473439	D1152H/Q1291R	{"CFTR": {"D1152H": 1, "Q1291R": 1}}	\N
7474261	7473439	R792G/R933G	{"CFTR": {"R792G": 1, "R933G": 1}}	\N
7474262	7473439	E56K/R75Q	{"CFTR": {"E56K": 1, "R75Q": 1}}	\N
7474263	7473439	I175V/Q359R	{"CFTR": {"I175V": 1, "Q359R": 1}}	\N
7474264	7473439	G178R/S589N	{"CFTR": {"G178R": 1, "S589N": 1}}	\N
7474265	7473439	M152V/W1282R	{"CFTR": {"M152V": 1, "W1282R": 1}}	\N
7474266	7473439	G1249R(G>C)/I175V	{"CFTR": {"I175V": 1, "G1249R(G>C)": 1}}	\N
7474267	7473439	G1249R(G>C)/Q237E	{"CFTR": {"Q237E": 1, "G1249R(G>C)": 1}}	\N
7474268	7473439	G194R(G>C)/G314E	{"CFTR": {"G314E": 1, "G194R(G>C)": 1}}	\N
7474269	7473439	G1249R(G>C)/Q237H	{"CFTR": {"Q237H": 1, "G1249R(G>C)": 1}}	\N
7474270	7473439	G194R(G>C)/V754M	{"CFTR": {"V754M": 1, "G194R(G>C)": 1}}	\N
7474271	7473439	G1069R/R668C	{"CFTR": {"R668C": 1, "G1069R": 1}}	\N
7474272	7473439	L1480P/S549N	{"CFTR": {"S549N": 1, "L1480P": 1}}	\N
7474273	7473439	A455E/F508C	{"CFTR": {"A455E": 1, "F508C": 1}}	\N
7474274	7473439	F311L/R668C	{"CFTR": {"F311L": 1, "R668C": 1}}	\N
7474275	7473439	L997F(G>C)/V754M	{"CFTR": {"V754M": 1, "L997F(G>C)": 1}}	\N
7474276	7473439	R553Q/S945L	{"CFTR": {"R553Q": 1, "S945L": 1}}	\N
7474277	7473439	711+3A->G/R352Q	{"CFTR": {"R352Q": 1, "711+3A->G": 1}}	\N
7474278	7473439	S549R(T>G)/S977F	{"CFTR": {"S977F": 1, "S549R(T>G)": 1}}	\N
7474279	7473439	D1152H/G1249R(G>C)	{"CFTR": {"D1152H": 1, "G1249R(G>C)": 1}}	\N
7474280	7473439	3849+10kbC->T/L997F(G>C)	{"CFTR": {"L997F(G>C)": 1, "3849+10kbC->T": 1}}	\N
7474281	7473439	A455E/S549N	{"CFTR": {"A455E": 1, "S549N": 1}}	\N
7474282	7473439	F1074L/S549R(A>C)	{"CFTR": {"F1074L": 1, "S549R(A>C)": 1}}	\N
7474283	7473439	A455E/G1244E	{"CFTR": {"A455E": 1, "G1244E": 1}}	\N
7474284	7473439	I148T/S1251N	{"CFTR": {"I148T": 1, "S1251N": 1}}	\N
7474285	7473439	F508C/G576A	{"CFTR": {"F508C": 1, "G576A": 1}}	\N
7474286	7473439	H939R/V1293G	{"CFTR": {"H939R": 1, "V1293G": 1}}	\N
7474287	7473439	D1270N/I1027T	{"CFTR": {"D1270N": 1, "I1027T": 1}}	\N
7474288	7473439	F508C,S1251N/M152V	{"CFTR": {"M152V": 1, "F508C,S1251N": 1}}	\N
7474289	7473439	D579G/G1349D	{"CFTR": {"D579G": 1, "G1349D": 1}}	\N
7474290	7473439	F508C,S1251N/R668C	{"CFTR": {"R668C": 1, "F508C,S1251N": 1}}	\N
7474291	7473439	E822K/M952I(G>T)	{"CFTR": {"E822K": 1, "M952I(G>T)": 1}}	\N
7474292	7473439	G551D/I1139V	{"CFTR": {"G551D": 1, "I1139V": 1}}	\N
7474293	7473439	R1070W/T338I	{"CFTR": {"T338I": 1, "R1070W": 1}}	\N
7474294	7473439	G178E/S945L	{"CFTR": {"G178E": 1, "S945L": 1}}	\N
7474295	7473439	2789+5G->A/V1293G	{"CFTR": {"V1293G": 1, "2789+5G->A": 1}}	\N
7474296	7473439	R75Q/Y1014C	{"CFTR": {"R75Q": 1, "Y1014C": 1}}	\N
7474297	7473439	S549N/S945L	{"CFTR": {"S549N": 1, "S945L": 1}}	\N
7474298	7473439	F1074L/R1283M	{"CFTR": {"F1074L": 1, "R1283M": 1}}	\N
7474299	7473439	G314E/T338I	{"CFTR": {"G314E": 1, "T338I": 1}}	\N
7474300	7473439	I148T/I1139V	{"CFTR": {"I148T": 1, "I1139V": 1}}	\N
7474301	7473439	R352Q/R668C	{"CFTR": {"R352Q": 1, "R668C": 1}}	\N
7474302	7473439	D110E/D1270N	{"CFTR": {"D110E": 1, "D1270N": 1}}	\N
7474303	7473439	R1070W/R1283M	{"CFTR": {"R1070W": 1, "R1283M": 1}}	\N
7474304	7473439	R170H/R1283M	{"CFTR": {"R170H": 1, "R1283M": 1}}	\N
7474305	7473439	I1139V/S737F	{"CFTR": {"S737F": 1, "I1139V": 1}}	\N
7474306	7473439	F311del/I1027T	{"CFTR": {"I1027T": 1, "F311del": 1}}	\N
7474307	7473439	M152V/R668C	{"CFTR": {"M152V": 1, "R668C": 1}}	\N
7474308	7473439	M152V/M152V	{"CFTR": {"M152V": 2}}	\N
7474309	7473439	3272-26A->G/V562I	{"CFTR": {"V562I": 1, "3272-26A->G": 1}}	\N
7474310	7473439	G178E/S549R(A>C)	{"CFTR": {"G178E": 1, "S549R(A>C)": 1}}	\N
7474311	7473439	R347L/R1070Q	{"CFTR": {"R347L": 1, "R1070Q": 1}}	\N
7474312	7473439	Q1291R/R75Q	{"CFTR": {"R75Q": 1, "Q1291R": 1}}	\N
7474313	7473439	R347L/R1070W	{"CFTR": {"R347L": 1, "R1070W": 1}}	\N
7474314	7473439	G314E/R1283M	{"CFTR": {"G314E": 1, "R1283M": 1}}	\N
7474315	7473439	D1152H/L206W	{"CFTR": {"L206W": 1, "D1152H": 1}}	\N
7474316	7473439	E822K/S1255P	{"CFTR": {"E822K": 1, "S1255P": 1}}	\N
7474317	7473439	R117H/R1283M	{"CFTR": {"R117H": 1, "R1283M": 1}}	\N
7474318	7473439	S1159F/S1255P	{"CFTR": {"S1159F": 1, "S1255P": 1}}	\N
7474319	7473439	D1152H/E831X	{"CFTR": {"E831X": 1, "D1152H": 1}}	\N
7474320	7473439	Q1291R/R74W	{"CFTR": {"R74W": 1, "Q1291R": 1}}	\N
7474321	7473439	Q359R/S549N	{"CFTR": {"Q359R": 1, "S549N": 1}}	\N
7474322	7473439	I175V/R553Q	{"CFTR": {"I175V": 1, "R553Q": 1}}	\N
7474323	7473439	L997F(G>T)/V754M	{"CFTR": {"V754M": 1, "L997F(G>T)": 1}}	\N
7474324	7473439	E193K/G178E	{"CFTR": {"E193K": 1, "G178E": 1}}	\N
7474325	7473439	H1375P/P67L	{"CFTR": {"P67L": 1, "H1375P": 1}}	\N
7474326	7473439	G1249R(G>C)/S1251N	{"CFTR": {"S1251N": 1, "G1249R(G>C)": 1}}	\N
7474327	7473439	I175V/R117L	{"CFTR": {"I175V": 1, "R117L": 1}}	\N
7474328	7473439	3272-26A->G/F1052V	{"CFTR": {"F1052V": 1, "3272-26A->G": 1}}	\N
7474329	7473439	Q359R/R347H	{"CFTR": {"Q359R": 1, "R347H": 1}}	\N
7474330	7473439	I175V/R117P	{"CFTR": {"I175V": 1, "R117P": 1}}	\N
7474331	7473439	R170H/S549R(A>C)	{"CFTR": {"R170H": 1, "S549R(A>C)": 1}}	\N
7474332	7473439	Q359R/R347L	{"CFTR": {"Q359R": 1, "R347L": 1}}	\N
7474333	7473439	H939R/H939R	{"CFTR": {"H939R": 2}}	\N
7474334	7473439	A455E/G1069R	{"CFTR": {"A455E": 1, "G1069R": 1}}	\N
7474335	7473439	I175V/R117G	{"CFTR": {"I175V": 1, "R117G": 1}}	\N
7474336	7473439	I175V/R117H	{"CFTR": {"I175V": 1, "R117H": 1}}	\N
7474337	7473439	G1244E/S549R(A>C)	{"CFTR": {"G1244E": 1, "S549R(A>C)": 1}}	\N
7474338	7473439	G551D/G1249R(G>C)	{"CFTR": {"G551D": 1, "G1249R(G>C)": 1}}	\N
7474339	7473439	R117H/S549R(A>C)	{"CFTR": {"R117H": 1, "S549R(A>C)": 1}}	\N
7474340	7473439	3849+10kbC->T/S589N	{"CFTR": {"S589N": 1, "3849+10kbC->T": 1}}	\N
7474341	7473439	R933G/S977F	{"CFTR": {"R933G": 1, "S977F": 1}}	\N
7474342	7473439	I175V/R117C	{"CFTR": {"I175V": 1, "R117C": 1}}	\N
7474343	7473439	D110H/I175V	{"CFTR": {"D110H": 1, "I175V": 1}}	\N
7474344	7473439	R553Q/V1293G	{"CFTR": {"R553Q": 1, "V1293G": 1}}	\N
7474345	7473439	A1067T/P67L	{"CFTR": {"P67L": 1, "A1067T": 1}}	\N
7474346	7473439	G178E/V754M	{"CFTR": {"G178E": 1, "V754M": 1}}	\N
7474347	7473439	I148T/Q1291R	{"CFTR": {"I148T": 1, "Q1291R": 1}}	\N
7474348	7473439	F1074L/S945L	{"CFTR": {"S945L": 1, "F1074L": 1}}	\N
7474349	7473439	D1270N/R347L	{"CFTR": {"R347L": 1, "D1270N": 1}}	\N
7474350	7473439	G970D/L967S	{"CFTR": {"G970D": 1, "L967S": 1}}	\N
7474351	7473439	A455E/R170H	{"CFTR": {"A455E": 1, "R170H": 1}}	\N
7474352	7473439	A349V/F311L	{"CFTR": {"A349V": 1, "F311L": 1}}	\N
7474353	7473439	L320V/Y1014C	{"CFTR": {"L320V": 1, "Y1014C": 1}}	\N
7474354	7473439	G551D/Y1032C	{"CFTR": {"G551D": 1, "Y1032C": 1}}	\N
7474355	7473439	F1052V/G178E	{"CFTR": {"G178E": 1, "F1052V": 1}}	\N
7474356	7473439	G970D/G1349D	{"CFTR": {"G970D": 1, "G1349D": 1}}	\N
7474357	7473439	G194R(G>C)/L997F(G>T)	{"CFTR": {"G194R(G>C)": 1, "L997F(G>T)": 1}}	\N
7474358	7473439	P67L/R117P	{"CFTR": {"P67L": 1, "R117P": 1}}	\N
7474359	7473439	P67L/R553Q	{"CFTR": {"P67L": 1, "R553Q": 1}}	\N
7474360	7473439	F1052V/S549N	{"CFTR": {"S549N": 1, "F1052V": 1}}	\N
7474361	7473439	D1270N/R347H	{"CFTR": {"R347H": 1, "D1270N": 1}}	\N
7474362	7473439	G1349D/L1480P	{"CFTR": {"G1349D": 1, "L1480P": 1}}	\N
7474363	7473439	R117G/S549R(A>C)	{"CFTR": {"R117G": 1, "S549R(A>C)": 1}}	\N
7474364	7473439	G576A/M952I(G>C)	{"CFTR": {"G576A": 1, "M952I(G>C)": 1}}	\N
7474365	7473439	3272-26A->G/H939R	{"CFTR": {"H939R": 1, "3272-26A->G": 1}}	\N
7474366	7473439	P67L/R117H	{"CFTR": {"P67L": 1, "R117H": 1}}	\N
7474367	7473439	P67L/R117G	{"CFTR": {"P67L": 1, "R117G": 1}}	\N
7474368	7473439	G576A/S977F	{"CFTR": {"G576A": 1, "S977F": 1}}	\N
7474369	7473439	L1480P/R347H	{"CFTR": {"R347H": 1, "L1480P": 1}}	\N
7474370	7473439	P67L/R117L	{"CFTR": {"P67L": 1, "R117L": 1}}	\N
7474371	7473439	S1251N/W1282R	{"CFTR": {"S1251N": 1, "W1282R": 1}}	\N
7474372	7473439	711+3A->G/R668C	{"CFTR": {"R668C": 1, "711+3A->G": 1}}	\N
7474373	7473439	F1052V/G178R	{"CFTR": {"G178R": 1, "F1052V": 1}}	\N
7474374	7473439	F508C/G314E	{"CFTR": {"F508C": 1, "G314E": 1}}	\N
7474375	7473439	P67L/R117C	{"CFTR": {"P67L": 1, "R117C": 1}}	\N
7474376	7473439	G551D/G1249R(G>A)	{"CFTR": {"G551D": 1, "G1249R(G>A)": 1}}	\N
7474377	7473439	E193K/R347L	{"CFTR": {"E193K": 1, "R347L": 1}}	\N
7474378	7473439	M952I(G>A)/Q359R	{"CFTR": {"Q359R": 1, "M952I(G>A)": 1}}	\N
7474379	7473439	G178R/L997F(G>C)	{"CFTR": {"G178R": 1, "L997F(G>C)": 1}}	\N
7474380	7473439	E193K/R347H	{"CFTR": {"E193K": 1, "R347H": 1}}	\N
7474381	7473439	R1070Q/V562I	{"CFTR": {"V562I": 1, "R1070Q": 1}}	\N
7474382	7473439	A120T/R933G	{"CFTR": {"A120T": 1, "R933G": 1}}	\N
7474383	7473439	D579G/R1283M	{"CFTR": {"D579G": 1, "R1283M": 1}}	\N
7474384	7473439	L1480P/R347L	{"CFTR": {"R347L": 1, "L1480P": 1}}	\N
7474385	7473439	D1152H/S1255P	{"CFTR": {"D1152H": 1, "S1255P": 1}}	\N
7474386	7473439	R75Q/R1162L	{"CFTR": {"R75Q": 1, "R1162L": 1}}	\N
7474387	7473439	F1052V/G1244E	{"CFTR": {"F1052V": 1, "G1244E": 1}}	\N
7474388	7473439	I807M/L1480P	{"CFTR": {"I807M": 1, "L1480P": 1}}	\N
7474389	7473439	G314E/T1053I	{"CFTR": {"G314E": 1, "T1053I": 1}}	\N
7474390	7473439	R352Q/R352Q	{"CFTR": {"R352Q": 2}}	\N
7474391	7473439	G1249R(G>A)/Q1291R	{"CFTR": {"Q1291R": 1, "G1249R(G>A)": 1}}	\N
7474392	7473439	G551S/R933G	{"CFTR": {"G551S": 1, "R933G": 1}}	\N
7474393	7473439	R352Q/T1053I	{"CFTR": {"R352Q": 1, "T1053I": 1}}	\N
7474394	7473439	H939R/Q359R	{"CFTR": {"H939R": 1, "Q359R": 1}}	\N
7474395	7473439	M952T/Y1014C	{"CFTR": {"M952T": 1, "Y1014C": 1}}	\N
7474396	7473439	V562I/W1282R	{"CFTR": {"V562I": 1, "W1282R": 1}}	\N
7474397	7473439	M952I(G>C)/S737F	{"CFTR": {"S737F": 1, "M952I(G>C)": 1}}	\N
7474398	7473439	L997F(G>T)/S549R(A>C)	{"CFTR": {"L997F(G>T)": 1, "S549R(A>C)": 1}}	\N
7474399	7473439	K1060T/R933G	{"CFTR": {"R933G": 1, "K1060T": 1}}	\N
7474400	7473439	M952I(G>T)/T1053I	{"CFTR": {"T1053I": 1, "M952I(G>T)": 1}}	\N
7474401	7473439	G551D/S549R(T>G)	{"CFTR": {"G551D": 1, "S549R(T>G)": 1}}	\N
7474402	7473439	G178R/S945L	{"CFTR": {"G178R": 1, "S945L": 1}}	\N
7474403	7473439	A234D/S977F	{"CFTR": {"A234D": 1, "S977F": 1}}	\N
7474404	7473439	R117G/V754M	{"CFTR": {"R117G": 1, "V754M": 1}}	\N
7474405	7473439	R347H/R1070W	{"CFTR": {"R347H": 1, "R1070W": 1}}	\N
7474406	7473439	L997F(G>C)/S549R(A>C)	{"CFTR": {"L997F(G>C)": 1, "S549R(A>C)": 1}}	\N
7474407	7473439	M952I(G>T)/S737F	{"CFTR": {"S737F": 1, "M952I(G>T)": 1}}	\N
7474408	7473439	G576A/M952I(G>A)	{"CFTR": {"G576A": 1, "M952I(G>A)": 1}}	\N
7474409	7473439	M952I(G>C)/T1053I	{"CFTR": {"T1053I": 1, "M952I(G>C)": 1}}	\N
7474410	7473439	R75Q/S589N	{"CFTR": {"R75Q": 1, "S589N": 1}}	\N
7474411	7473439	3272-26A->G/D579G	{"CFTR": {"D579G": 1, "3272-26A->G": 1}}	\N
7474412	7473439	A120T/W1282R	{"CFTR": {"A120T": 1, "W1282R": 1}}	\N
7474413	7473439	R347H/R1070Q	{"CFTR": {"R347H": 1, "R1070Q": 1}}	\N
7474414	7473439	D1152H/G1249R(G>A)	{"CFTR": {"D1152H": 1, "G1249R(G>A)": 1}}	\N
7474415	7473439	R170H/V754M	{"CFTR": {"R170H": 1, "V754M": 1}}	\N
7474416	7473439	D110H/V562I	{"CFTR": {"D110H": 1, "V562I": 1}}	\N
7474417	7473439	3849+10kbC->T/L206W	{"CFTR": {"L206W": 1, "3849+10kbC->T": 1}}	\N
7474418	7473439	D110E/I175V	{"CFTR": {"D110E": 1, "I175V": 1}}	\N
7474419	7473439	W1282R/Y1014C	{"CFTR": {"W1282R": 1, "Y1014C": 1}}	\N
7474420	7473439	E56K/M952T	{"CFTR": {"E56K": 1, "M952T": 1}}	\N
7474421	7473439	R352Q/W1282R	{"CFTR": {"R352Q": 1, "W1282R": 1}}	\N
7474422	7473439	A120T/S549R(T>G)	{"CFTR": {"A120T": 1, "S549R(T>G)": 1}}	\N
7474423	7473439	R117L/S945L	{"CFTR": {"R117L": 1, "S945L": 1}}	\N
7474424	7473439	3849+10kbC->T/T1053I	{"CFTR": {"T1053I": 1, "3849+10kbC->T": 1}}	\N
7474425	7473439	3849+10kbC->T/E822K	{"CFTR": {"E822K": 1, "3849+10kbC->T": 1}}	\N
7474426	7473439	E822K/V562I	{"CFTR": {"E822K": 1, "V562I": 1}}	\N
7474427	7473439	E831X/F1052V	{"CFTR": {"E831X": 1, "F1052V": 1}}	\N
7474428	7473439	Q237E/V1293G	{"CFTR": {"Q237E": 1, "V1293G": 1}}	\N
7474429	7473439	F311del/R1070Q	{"CFTR": {"R1070Q": 1, "F311del": 1}}	\N
7474430	7473439	R117C/S549R(A>C)	{"CFTR": {"R117C": 1, "S549R(A>C)": 1}}	\N
7474431	7473439	R668C/R1283M	{"CFTR": {"R668C": 1, "R1283M": 1}}	\N
7474432	7473439	F311del/R1070W	{"CFTR": {"R1070W": 1, "F311del": 1}}	\N
7474433	7473439	D192G/I148T	{"CFTR": {"D192G": 1, "I148T": 1}}	\N
7474434	7473439	A349V/S977F	{"CFTR": {"A349V": 1, "S977F": 1}}	\N
7474435	7473439	A120T/R1070W	{"CFTR": {"A120T": 1, "R1070W": 1}}	\N
7474436	7473439	R347L/V232D	{"CFTR": {"R347L": 1, "V232D": 1}}	\N
7474437	7473439	G194R(G>C)/S945L	{"CFTR": {"S945L": 1, "G194R(G>C)": 1}}	\N
7474438	7473439	A120T/R1070Q	{"CFTR": {"A120T": 1, "R1070Q": 1}}	\N
7474439	7473439	G314E/Q359R	{"CFTR": {"G314E": 1, "Q359R": 1}}	\N
7474440	7473439	R74W/S549R(A>C)	{"CFTR": {"R74W": 1, "S549R(A>C)": 1}}	\N
7474441	7473439	G1349D/Y1014C	{"CFTR": {"G1349D": 1, "Y1014C": 1}}	\N
7474442	7473439	F508C,S1251N/V232D	{"CFTR": {"V232D": 1, "F508C,S1251N": 1}}	\N
7474443	7473439	M152V/V232D	{"CFTR": {"M152V": 1, "V232D": 1}}	\N
7474444	7473439	Q1291R/R933G	{"CFTR": {"R933G": 1, "Q1291R": 1}}	\N
7474445	7473439	G1244E/V754M	{"CFTR": {"V754M": 1, "G1244E": 1}}	\N
7474446	7473439	A234D/F311L	{"CFTR": {"A234D": 1, "F311L": 1}}	\N
7474447	7473439	F1052V/R347H	{"CFTR": {"R347H": 1, "F1052V": 1}}	\N
7474448	7473439	P67L/Q359R	{"CFTR": {"P67L": 1, "Q359R": 1}}	\N
7474449	7473439	F1052V/R347L	{"CFTR": {"R347L": 1, "F1052V": 1}}	\N
7474450	7473439	G178E/L997F(G>T)	{"CFTR": {"G178E": 1, "L997F(G>T)": 1}}	\N
7474451	7473439	D192G/R352Q	{"CFTR": {"D192G": 1, "R352Q": 1}}	\N
7474452	7473439	H939R/R553Q	{"CFTR": {"H939R": 1, "R553Q": 1}}	\N
7474453	7473439	H939R/R117P	{"CFTR": {"H939R": 1, "R117P": 1}}	\N
7474454	7473439	D1152H/S1251N	{"CFTR": {"D1152H": 1, "S1251N": 1}}	\N
7474455	7473439	D1152H/I175V	{"CFTR": {"I175V": 1, "D1152H": 1}}	\N
7474456	7473439	F1074L/Y1014C	{"CFTR": {"F1074L": 1, "Y1014C": 1}}	\N
7474457	7473439	F311L/V232D	{"CFTR": {"F311L": 1, "V232D": 1}}	\N
7474458	7473439	2789+5G->A/A455E	{"CFTR": {"A455E": 1, "2789+5G->A": 1}}	\N
7474459	7473439	R1070W/V1293G	{"CFTR": {"R1070W": 1, "V1293G": 1}}	\N
7474460	7473439	D110E/V562I	{"CFTR": {"D110E": 1, "V562I": 1}}	\N
7474461	7473439	D1270N/S549N	{"CFTR": {"S549N": 1, "D1270N": 1}}	\N
7474462	7473439	M952I(G>A)/R117L	{"CFTR": {"R117L": 1, "M952I(G>A)": 1}}	\N
7474463	7473439	R1283M/W1282R	{"CFTR": {"R1283M": 1, "W1282R": 1}}	\N
7474464	7473439	E193K/S549N	{"CFTR": {"E193K": 1, "S549N": 1}}	\N
7474465	7473439	H939R/R117C	{"CFTR": {"H939R": 1, "R117C": 1}}	\N
7474466	7473439	M952I(G>A)/R117P	{"CFTR": {"R117P": 1, "M952I(G>A)": 1}}	\N
7474467	7473439	G1249R(G>C)/S945L	{"CFTR": {"S945L": 1, "G1249R(G>C)": 1}}	\N
7474468	7473439	H939R/R117G	{"CFTR": {"H939R": 1, "R117G": 1}}	\N
7474469	7473439	F508C/S945L	{"CFTR": {"F508C": 1, "S945L": 1}}	\N
7474470	7473439	H939R/R117H	{"CFTR": {"H939R": 1, "R117H": 1}}	\N
7474471	7473439	F1074L/M952I(G>A)	{"CFTR": {"F1074L": 1, "M952I(G>A)": 1}}	\N
7474472	7473439	M952I(G>A)/R553Q	{"CFTR": {"R553Q": 1, "M952I(G>A)": 1}}	\N
7474473	7473439	H939R/R117L	{"CFTR": {"H939R": 1, "R117L": 1}}	\N
7474474	7473439	M952I(G>T)/R668C	{"CFTR": {"R668C": 1, "M952I(G>T)": 1}}	\N
7474475	7473439	I175V/S1159P	{"CFTR": {"I175V": 1, "S1159P": 1}}	\N
7474476	7473439	F311L/S737F	{"CFTR": {"F311L": 1, "S737F": 1}}	\N
7474477	7473439	R352Q/R792G	{"CFTR": {"R352Q": 1, "R792G": 1}}	\N
7474478	7473439	3272-26A->G/D1270N	{"CFTR": {"D1270N": 1, "3272-26A->G": 1}}	\N
7474479	7473439	Q237H/V1293G	{"CFTR": {"Q237H": 1, "V1293G": 1}}	\N
7474480	7473439	I175V/S1159F	{"CFTR": {"I175V": 1, "S1159F": 1}}	\N
7474481	7473439	L967S/Q1291R	{"CFTR": {"L967S": 1, "Q1291R": 1}}	\N
7474482	7473439	M952I(G>C)/R668C	{"CFTR": {"R668C": 1, "M952I(G>C)": 1}}	\N
7474483	7473439	E193K/L997F(G>C)	{"CFTR": {"E193K": 1, "L997F(G>C)": 1}}	\N
7474484	7473439	S589N/W1282R	{"CFTR": {"S589N": 1, "W1282R": 1}}	\N
7474485	7473439	2789+5G->A/T338I	{"CFTR": {"T338I": 1, "2789+5G->A": 1}}	\N
7474486	7473439	3272-26A->G/S1159P	{"CFTR": {"S1159P": 1, "3272-26A->G": 1}}	\N
7474487	7473439	D579G/D1152H	{"CFTR": {"D579G": 1, "D1152H": 1}}	\N
7474488	7473439	R74W/V754M	{"CFTR": {"R74W": 1, "V754M": 1}}	\N
7474489	7473439	L320V/S945L	{"CFTR": {"L320V": 1, "S945L": 1}}	\N
7474490	7473439	R117P/S945L	{"CFTR": {"R117P": 1, "S945L": 1}}	\N
7474491	7473439	G314E/V1293G	{"CFTR": {"G314E": 1, "V1293G": 1}}	\N
7474492	7473439	F1074L/G576A	{"CFTR": {"G576A": 1, "F1074L": 1}}	\N
7474493	7473439	R117C/V754M	{"CFTR": {"R117C": 1, "V754M": 1}}	\N
7474494	7473439	G1249R(G>A)/H1375P	{"CFTR": {"H1375P": 1, "G1249R(G>A)": 1}}	\N
7474495	7473439	G178R/Y1014C	{"CFTR": {"G178R": 1, "Y1014C": 1}}	\N
7474496	7473439	3272-26A->G/S1159F	{"CFTR": {"S1159F": 1, "3272-26A->G": 1}}	\N
7474497	7473439	I807M/L320V	{"CFTR": {"I807M": 1, "L320V": 1}}	\N
7474498	7473439	F311del/R347L	{"CFTR": {"R347L": 1, "F311del": 1}}	\N
7474499	7473439	2789+5G->A/D579G	{"CFTR": {"D579G": 1, "2789+5G->A": 1}}	\N
7474500	7473439	D110H/H939R	{"CFTR": {"D110H": 1, "H939R": 1}}	\N
7474501	7473439	R347H/S737F	{"CFTR": {"R347H": 1, "S737F": 1}}	\N
7474502	7473439	A455E/D1152H	{"CFTR": {"A455E": 1, "D1152H": 1}}	\N
7474503	7473439	D924N/Q359R	{"CFTR": {"D924N": 1, "Q359R": 1}}	\N
7474504	7473439	I175V/L320V	{"CFTR": {"I175V": 1, "L320V": 1}}	\N
7474505	7473439	R347L/R668C	{"CFTR": {"R347L": 1, "R668C": 1}}	\N
7474506	7473439	2789+5G->A/G1249R(G>C)	{"CFTR": {"2789+5G->A": 1, "G1249R(G>C)": 1}}	\N
7474507	7473439	F311del/R347H	{"CFTR": {"R347H": 1, "F311del": 1}}	\N
7474508	7473439	3272-26A->G/I175V	{"CFTR": {"I175V": 1, "3272-26A->G": 1}}	\N
7474509	7473439	R352Q/R1070W	{"CFTR": {"R352Q": 1, "R1070W": 1}}	\N
7474510	7473439	G551S/H1375P	{"CFTR": {"G551S": 1, "H1375P": 1}}	\N
7474511	7473439	A455E/L997F(G>C)	{"CFTR": {"A455E": 1, "L997F(G>C)": 1}}	\N
7474512	7473439	L1480P/V1293G	{"CFTR": {"L1480P": 1, "V1293G": 1}}	\N
7474513	7473439	Q237H/R117C	{"CFTR": {"Q237H": 1, "R117C": 1}}	\N
7474514	7473439	D579G/V754M	{"CFTR": {"D579G": 1, "V754M": 1}}	\N
7474515	7473439	F1052V/R792G	{"CFTR": {"R792G": 1, "F1052V": 1}}	\N
7474516	7473439	S737F/T1053I	{"CFTR": {"S737F": 1, "T1053I": 1}}	\N
7474517	7473439	F1074L/M952I(G>C)	{"CFTR": {"F1074L": 1, "M952I(G>C)": 1}}	\N
7474518	7473439	R352Q/R1070Q	{"CFTR": {"R352Q": 1, "R1070Q": 1}}	\N
7474519	7473439	R1070Q/S1251N	{"CFTR": {"R1070Q": 1, "S1251N": 1}}	\N
7474520	7473439	F508C/S589N	{"CFTR": {"F508C": 1, "S589N": 1}}	\N
7474521	7473439	F311L/R352Q	{"CFTR": {"F311L": 1, "R352Q": 1}}	\N
7474522	7473439	R347H/V232D	{"CFTR": {"R347H": 1, "V232D": 1}}	\N
7474523	7473439	G194R(G>A)/P67L	{"CFTR": {"P67L": 1, "G194R(G>A)": 1}}	\N
7474524	7473439	3849+10kbC->T/F1052V	{"CFTR": {"F1052V": 1, "3849+10kbC->T": 1}}	\N
7474525	7473439	A234D/D1270N	{"CFTR": {"A234D": 1, "D1270N": 1}}	\N
7474526	7473439	D110H/Y1032C	{"CFTR": {"D110H": 1, "Y1032C": 1}}	\N
7474527	7473439	K1060T/R1162L	{"CFTR": {"K1060T": 1, "R1162L": 1}}	\N
7474528	7473439	M952I(G>A)/R117C	{"CFTR": {"R117C": 1, "M952I(G>A)": 1}}	\N
7474529	7473439	S549R(T>G)/S1159F	{"CFTR": {"S1159F": 1, "S549R(T>G)": 1}}	\N
7474530	7473439	A455E/G970D	{"CFTR": {"A455E": 1, "G970D": 1}}	\N
7474531	7473439	M952I(G>A)/R117G	{"CFTR": {"R117G": 1, "M952I(G>A)": 1}}	\N
7474532	7473439	F311L/R1162L	{"CFTR": {"F311L": 1, "R1162L": 1}}	\N
7474533	7473439	M952I(G>A)/R117H	{"CFTR": {"R117H": 1, "M952I(G>A)": 1}}	\N
7474534	7473439	2789+5G->A/M952T	{"CFTR": {"M952T": 1, "2789+5G->A": 1}}	\N
7474535	7473439	D110E/Q359R	{"CFTR": {"D110E": 1, "Q359R": 1}}	\N
7474536	7473439	E822K/F311del	{"CFTR": {"E822K": 1, "F311del": 1}}	\N
7474537	7473439	G1069R/R352Q	{"CFTR": {"R352Q": 1, "G1069R": 1}}	\N
7474538	7473439	R1162L/Y1014C	{"CFTR": {"R1162L": 1, "Y1014C": 1}}	\N
7474539	7473439	3849+10kbC->T/Q359R	{"CFTR": {"Q359R": 1, "3849+10kbC->T": 1}}	\N
7474540	7473439	S549R(T>G)/S1159P	{"CFTR": {"S1159P": 1, "S549R(T>G)": 1}}	\N
7474541	7473439	D1270N/L967S	{"CFTR": {"L967S": 1, "D1270N": 1}}	\N
7474542	7473439	D110H/R117L	{"CFTR": {"D110H": 1, "R117L": 1}}	\N
7474543	7473439	D192G/R170H	{"CFTR": {"D192G": 1, "R170H": 1}}	\N
7474544	7473439	E193K/R1070Q	{"CFTR": {"E193K": 1, "R1070Q": 1}}	\N
7474545	7473439	S945L/Y1014C	{"CFTR": {"S945L": 1, "Y1014C": 1}}	\N
7474546	7473439	R668C/V754M	{"CFTR": {"R668C": 1, "V754M": 1}}	\N
7474547	7473439	D110H/R117H	{"CFTR": {"D110H": 1, "R117H": 1}}	\N
7474548	7473439	I807M/V1293G	{"CFTR": {"I807M": 1, "V1293G": 1}}	\N
7474549	7473439	Q1291R/W1282R	{"CFTR": {"Q1291R": 1, "W1282R": 1}}	\N
7474550	7473439	R1283M/S549N	{"CFTR": {"S549N": 1, "R1283M": 1}}	\N
7474551	7473439	D110H/G1249R(G>C)	{"CFTR": {"D110H": 1, "G1249R(G>C)": 1}}	\N
7474552	7473439	D110H/R117G	{"CFTR": {"D110H": 1, "R117G": 1}}	\N
7474553	7473439	E193K/R1070W	{"CFTR": {"E193K": 1, "R1070W": 1}}	\N
7474554	7473439	2789+5G->A/G1249R(G>A)	{"CFTR": {"2789+5G->A": 1, "G1249R(G>A)": 1}}	\N
7474555	7473439	D110H/R117C	{"CFTR": {"D110H": 1, "R117C": 1}}	\N
7474556	7473439	D924N/H939R	{"CFTR": {"D924N": 1, "H939R": 1}}	\N
7474557	7473439	G194R(G>A)/G1249R(G>A)	{"CFTR": {"G194R(G>A)": 1, "G1249R(G>A)": 1}}	\N
7474558	7473439	I1027T/P67L	{"CFTR": {"P67L": 1, "I1027T": 1}}	\N
7474559	7473439	M152V/R352Q	{"CFTR": {"M152V": 1, "R352Q": 1}}	\N
7474560	7473439	Q359R/R352Q	{"CFTR": {"Q359R": 1, "R352Q": 1}}	\N
7474561	7473439	D1270N/G1349D	{"CFTR": {"D1270N": 1, "G1349D": 1}}	\N
7474562	7473439	R75Q/S549R(A>C)	{"CFTR": {"R75Q": 1, "S549R(A>C)": 1}}	\N
7474563	7473439	R347H/Y1014C	{"CFTR": {"R347H": 1, "Y1014C": 1}}	\N
7474564	7473439	D110H/R553Q	{"CFTR": {"D110H": 1, "R553Q": 1}}	\N
7474565	7473439	I1027T/I1139V	{"CFTR": {"I1027T": 1, "I1139V": 1}}	\N
7474566	7473439	F311del/F1052V	{"CFTR": {"F1052V": 1, "F311del": 1}}	\N
7474567	7473439	D110H/R117P	{"CFTR": {"D110H": 1, "R117P": 1}}	\N
7474568	7473439	L967S/Y1032C	{"CFTR": {"L967S": 1, "Y1032C": 1}}	\N
7474569	7473439	A1067T/Y1032C	{"CFTR": {"A1067T": 1, "Y1032C": 1}}	\N
7474570	7473439	Q237H/R117P	{"CFTR": {"Q237H": 1, "R117P": 1}}	\N
7474571	7473439	Q237H/R553Q	{"CFTR": {"Q237H": 1, "R553Q": 1}}	\N
7474572	7473439	E193K/I1027T	{"CFTR": {"E193K": 1, "I1027T": 1}}	\N
7474573	7473439	D110E/H939R	{"CFTR": {"D110E": 1, "H939R": 1}}	\N
7474574	7473439	D1270N/F311del	{"CFTR": {"D1270N": 1, "F311del": 1}}	\N
7474575	7473439	F1052V/R352Q	{"CFTR": {"R352Q": 1, "F1052V": 1}}	\N
7474576	7473439	Q237H/R117H	{"CFTR": {"Q237H": 1, "R117H": 1}}	\N
7474577	7473439	Q237H/R117G	{"CFTR": {"Q237H": 1, "R117G": 1}}	\N
7474578	7473439	R117C/S945L	{"CFTR": {"R117C": 1, "S945L": 1}}	\N
7474579	7473439	I1139V/R75Q	{"CFTR": {"R75Q": 1, "I1139V": 1}}	\N
7474580	7473439	Q237H/R117L	{"CFTR": {"Q237H": 1, "R117L": 1}}	\N
7474581	7473439	F508C/S1255P	{"CFTR": {"F508C": 1, "S1255P": 1}}	\N
7474582	7473439	3849+10kbC->T/E831X	{"CFTR": {"E831X": 1, "3849+10kbC->T": 1}}	\N
7474583	7473439	3849+10kbC->T/Y1032C	{"CFTR": {"Y1032C": 1, "3849+10kbC->T": 1}}	\N
7474584	7473439	Q237E/Q359R	{"CFTR": {"Q237E": 1, "Q359R": 1}}	\N
7474585	7473439	G178R/S549R(A>C)	{"CFTR": {"G178R": 1, "S549R(A>C)": 1}}	\N
7474586	7473439	I1139V/R74W	{"CFTR": {"R74W": 1, "I1139V": 1}}	\N
7474587	7473439	S549N/V754M	{"CFTR": {"S549N": 1, "V754M": 1}}	\N
7474588	7473439	3272-26A->G/T338I	{"CFTR": {"T338I": 1, "3272-26A->G": 1}}	\N
7474589	7473439	A455E/D110E	{"CFTR": {"A455E": 1, "D110E": 1}}	\N
7474590	7473439	A455E/D110H	{"CFTR": {"A455E": 1, "D110H": 1}}	\N
7474591	7473439	A1067T/G1249R(G>C)	{"CFTR": {"A1067T": 1, "G1249R(G>C)": 1}}	\N
7474592	7473439	A120T/V754M	{"CFTR": {"A120T": 1, "V754M": 1}}	\N
7474593	7473439	711+3A->G/K1060T	{"CFTR": {"K1060T": 1, "711+3A->G": 1}}	\N
7474594	7473439	D110H/G1249R(G>A)	{"CFTR": {"D110H": 1, "G1249R(G>A)": 1}}	\N
7474595	7473439	R347L/S737F	{"CFTR": {"R347L": 1, "S737F": 1}}	\N
7474596	7473439	S589N/T1053I	{"CFTR": {"S589N": 1, "T1053I": 1}}	\N
7474597	7473439	A120T/M952I(G>T)	{"CFTR": {"A120T": 1, "M952I(G>T)": 1}}	\N
7474598	7473439	M952I(G>A)/S1159F	{"CFTR": {"S1159F": 1, "M952I(G>A)": 1}}	\N
7474599	7473439	Q359R/R1070Q	{"CFTR": {"Q359R": 1, "R1070Q": 1}}	\N
7474600	7473439	D924N/R117P	{"CFTR": {"D924N": 1, "R117P": 1}}	\N
7474601	7473439	E822K/M952I(G>A)	{"CFTR": {"E822K": 1, "M952I(G>A)": 1}}	\N
7474602	7473439	R1070W/V562I	{"CFTR": {"V562I": 1, "R1070W": 1}}	\N
7474603	7473439	R1283M/T1053I	{"CFTR": {"R1283M": 1, "T1053I": 1}}	\N
7474604	7473439	2789+5G->A/P67L	{"CFTR": {"P67L": 1, "2789+5G->A": 1}}	\N
7474605	7473439	F311L/I807M	{"CFTR": {"F311L": 1, "I807M": 1}}	\N
7474606	7473439	V1293G/Y1032C	{"CFTR": {"V1293G": 1, "Y1032C": 1}}	\N
7474607	7473439	D924N/R117L	{"CFTR": {"D924N": 1, "R117L": 1}}	\N
7474608	7473439	M952I(G>A)/S1159P	{"CFTR": {"S1159P": 1, "M952I(G>A)": 1}}	\N
7474609	7473439	A1067T/S977F	{"CFTR": {"S977F": 1, "A1067T": 1}}	\N
7474610	7473439	D924N/R117G	{"CFTR": {"D924N": 1, "R117G": 1}}	\N
7474611	7473439	D924N/R117H	{"CFTR": {"D924N": 1, "R117H": 1}}	\N
7474612	7473439	D924N/R117C	{"CFTR": {"D924N": 1, "R117C": 1}}	\N
7474613	7473439	G194R(G>A)/Y1032C	{"CFTR": {"Y1032C": 1, "G194R(G>A)": 1}}	\N
7474614	7473439	R553Q/R1283M	{"CFTR": {"R553Q": 1, "R1283M": 1}}	\N
7474615	7473439	G970D/S549R(T>G)	{"CFTR": {"G970D": 1, "S549R(T>G)": 1}}	\N
7474616	7473439	M952T/R74W	{"CFTR": {"R74W": 1, "M952T": 1}}	\N
7474617	7473439	D924N/Y1032C	{"CFTR": {"D924N": 1, "Y1032C": 1}}	\N
7474618	7473439	P67L/S589N	{"CFTR": {"P67L": 1, "S589N": 1}}	\N
7474619	7473439	L997F(G>C)/S549R(T>G)	{"CFTR": {"L997F(G>C)": 1, "S549R(T>G)": 1}}	\N
7474620	7473439	P67L/R1283M	{"CFTR": {"P67L": 1, "R1283M": 1}}	\N
7474621	7473439	E822K/E831X	{"CFTR": {"E822K": 1, "E831X": 1}}	\N
7474622	7473439	R74W/R933G	{"CFTR": {"R74W": 1, "R933G": 1}}	\N
7474623	7473439	D110E/G1249R(G>C)	{"CFTR": {"D110E": 1, "G1249R(G>C)": 1}}	\N
7474624	7473439	R553Q/S589N	{"CFTR": {"R553Q": 1, "S589N": 1}}	\N
7474625	7473439	711+3A->G/M152V	{"CFTR": {"M152V": 1, "711+3A->G": 1}}	\N
7474626	7473439	D924N/E822K	{"CFTR": {"D924N": 1, "E822K": 1}}	\N
7474627	7473439	E193K/R352Q	{"CFTR": {"E193K": 1, "R352Q": 1}}	\N
7474628	7473439	R347H/W1282R	{"CFTR": {"R347H": 1, "W1282R": 1}}	\N
7474629	7473439	G1249R(G>A)/R933G	{"CFTR": {"R933G": 1, "G1249R(G>A)": 1}}	\N
7474630	7473439	M952I(G>A)/T338I	{"CFTR": {"T338I": 1, "M952I(G>A)": 1}}	\N
7474631	7473439	M952T/R75Q	{"CFTR": {"R75Q": 1, "M952T": 1}}	\N
7474632	7473439	Q359R/R1070W	{"CFTR": {"Q359R": 1, "R1070W": 1}}	\N
7474633	7473439	D924N/R553Q	{"CFTR": {"D924N": 1, "R553Q": 1}}	\N
7474634	7473439	K1060T/V754M	{"CFTR": {"V754M": 1, "K1060T": 1}}	\N
7474635	7473439	G314E/V562I	{"CFTR": {"G314E": 1, "V562I": 1}}	\N
7474636	7473439	K1060T/M952I(G>T)	{"CFTR": {"K1060T": 1, "M952I(G>T)": 1}}	\N
7474637	7473439	R117H/S945L	{"CFTR": {"R117H": 1, "S945L": 1}}	\N
7474638	7473439	I175V/L1480P	{"CFTR": {"I175V": 1, "L1480P": 1}}	\N
7474639	7473439	Q237E/R117L	{"CFTR": {"Q237E": 1, "R117L": 1}}	\N
7474640	7473439	Q237E/R117P	{"CFTR": {"Q237E": 1, "R117P": 1}}	\N
7474641	7473439	Q237E/R117G	{"CFTR": {"Q237E": 1, "R117G": 1}}	\N
7474642	7473439	3272-26A->G/R117P	{"CFTR": {"R117P": 1, "3272-26A->G": 1}}	\N
7474643	7473439	F1052V/I807M	{"CFTR": {"I807M": 1, "F1052V": 1}}	\N
7474644	7473439	L997F(G>T)/S549R(T>G)	{"CFTR": {"L997F(G>T)": 1, "S549R(T>G)": 1}}	\N
7474645	7473439	3272-26A->G/R553Q	{"CFTR": {"R553Q": 1, "3272-26A->G": 1}}	\N
7474646	7473439	D192G/T1053I	{"CFTR": {"D192G": 1, "T1053I": 1}}	\N
7474647	7473439	G178E/R1162L	{"CFTR": {"G178E": 1, "R1162L": 1}}	\N
7474648	7473439	Q237E/R117H	{"CFTR": {"Q237E": 1, "R117H": 1}}	\N
7474649	7473439	D110H/Q359R	{"CFTR": {"D110H": 1, "Q359R": 1}}	\N
7474650	7473439	L997F(G>T)/Y1014C	{"CFTR": {"Y1014C": 1, "L997F(G>T)": 1}}	\N
7474651	7473439	F508C/Q237E	{"CFTR": {"F508C": 1, "Q237E": 1}}	\N
7474652	7473439	E822K/M952I(G>C)	{"CFTR": {"E822K": 1, "M952I(G>C)": 1}}	\N
7474653	7473439	F508C/I175V	{"CFTR": {"F508C": 1, "I175V": 1}}	\N
7474654	7473439	G194R(G>C)/Y1014C	{"CFTR": {"Y1014C": 1, "G194R(G>C)": 1}}	\N
7474655	7473439	V562I/Y1014C	{"CFTR": {"V562I": 1, "Y1014C": 1}}	\N
7474656	7473439	F508C/Q237H	{"CFTR": {"F508C": 1, "Q237H": 1}}	\N
7474657	7473439	G1244E/Q237E	{"CFTR": {"Q237E": 1, "G1244E": 1}}	\N
7474658	7473439	G194R(G>A)/I1139V	{"CFTR": {"I1139V": 1, "G194R(G>A)": 1}}	\N
7474659	7473439	G1244E/Q237H	{"CFTR": {"Q237H": 1, "G1244E": 1}}	\N
7474660	7473439	I807M/T338I	{"CFTR": {"I807M": 1, "T338I": 1}}	\N
7474661	7473439	A1067T/G1249R(G>A)	{"CFTR": {"A1067T": 1, "G1249R(G>A)": 1}}	\N
7474662	7473439	Q237E/R553Q	{"CFTR": {"Q237E": 1, "R553Q": 1}}	\N
7474663	7473439	R347L/Y1014C	{"CFTR": {"R347L": 1, "Y1014C": 1}}	\N
7474664	7473439	D110E/G1249R(G>A)	{"CFTR": {"D110E": 1, "G1249R(G>A)": 1}}	\N
7474665	7473439	R117G/S945L	{"CFTR": {"R117G": 1, "S945L": 1}}	\N
7474666	7473439	L320V/L997F(G>T)	{"CFTR": {"L320V": 1, "L997F(G>T)": 1}}	\N
7474667	7473439	Q237H/T338I	{"CFTR": {"Q237H": 1, "T338I": 1}}	\N
7474668	7473439	M952I(G>C)/R792G	{"CFTR": {"R792G": 1, "M952I(G>C)": 1}}	\N
7474669	7473439	3272-26A->G/R117H	{"CFTR": {"R117H": 1, "3272-26A->G": 1}}	\N
7474670	7473439	F508C/S1251N	{"CFTR": {"F508C": 1, "S1251N": 1}}	\N
7474671	7473439	D110H/D579G	{"CFTR": {"D110H": 1, "D579G": 1}}	\N
7474672	7473439	R170H/S945L	{"CFTR": {"R170H": 1, "S945L": 1}}	\N
7474673	7473439	M152V/R1070Q	{"CFTR": {"M152V": 1, "R1070Q": 1}}	\N
7474674	7473439	Q237E/R117C	{"CFTR": {"Q237E": 1, "R117C": 1}}	\N
7474675	7473439	3272-26A->G/R117L	{"CFTR": {"R117L": 1, "3272-26A->G": 1}}	\N
7474676	7473439	3272-26A->G/R117C	{"CFTR": {"R117C": 1, "3272-26A->G": 1}}	\N
7474677	7473439	D1270N/R170H	{"CFTR": {"R170H": 1, "D1270N": 1}}	\N
7474678	7473439	E193K/G970D	{"CFTR": {"E193K": 1, "G970D": 1}}	\N
7474679	7473439	3272-26A->G/R117G	{"CFTR": {"R117G": 1, "3272-26A->G": 1}}	\N
7474680	7473439	M152V/R1070W	{"CFTR": {"M152V": 1, "R1070W": 1}}	\N
7474681	7473439	R75Q/V754M	{"CFTR": {"R75Q": 1, "V754M": 1}}	\N
7474682	7473439	L997F(G>C)/Y1014C	{"CFTR": {"Y1014C": 1, "L997F(G>C)": 1}}	\N
7474683	7473439	D110H/T338I	{"CFTR": {"D110H": 1, "T338I": 1}}	\N
7474684	7473439	G1349D/M952T	{"CFTR": {"M952T": 1, "G1349D": 1}}	\N
7474685	7473439	I807M/R553Q	{"CFTR": {"I807M": 1, "R553Q": 1}}	\N
7474686	7473439	G551D/Q1291R	{"CFTR": {"G551D": 1, "Q1291R": 1}}	\N
7474687	7473439	G194R(G>C)/L967S	{"CFTR": {"L967S": 1, "G194R(G>C)": 1}}	\N
7474688	7473439	Q1291R/R1070Q	{"CFTR": {"Q1291R": 1, "R1070Q": 1}}	\N
7474689	7473439	3849+10kbC->T/V562I	{"CFTR": {"V562I": 1, "3849+10kbC->T": 1}}	\N
7474690	7473439	I807M/R117L	{"CFTR": {"I807M": 1, "R117L": 1}}	\N
7474691	7473439	I807M/R117P	{"CFTR": {"I807M": 1, "R117P": 1}}	\N
7474692	7473439	I1027T/Y1032C	{"CFTR": {"I1027T": 1, "Y1032C": 1}}	\N
7474693	7473439	Q1291R/R1070W	{"CFTR": {"Q1291R": 1, "R1070W": 1}}	\N
7474694	7473439	Q237E/T338I	{"CFTR": {"Q237E": 1, "T338I": 1}}	\N
7474695	7473439	I807M/R117C	{"CFTR": {"I807M": 1, "R117C": 1}}	\N
7474696	7473439	A234D/S1159F	{"CFTR": {"A234D": 1, "S1159F": 1}}	\N
7474697	7473439	G576A/S1251N	{"CFTR": {"G576A": 1, "S1251N": 1}}	\N
7474698	7473439	I807M/Y1032C	{"CFTR": {"I807M": 1, "Y1032C": 1}}	\N
7474699	7473439	R347L/R792G	{"CFTR": {"R347L": 1, "R792G": 1}}	\N
7474700	7473439	I807M/R117G	{"CFTR": {"I807M": 1, "R117G": 1}}	\N
7474701	7473439	I807M/R117H	{"CFTR": {"I807M": 1, "R117H": 1}}	\N
7474702	7473439	L320V/L967S	{"CFTR": {"L320V": 1, "L967S": 1}}	\N
7474703	7473439	2789+5G->A/L320V	{"CFTR": {"L320V": 1, "2789+5G->A": 1}}	\N
7474704	7473439	E193K/W1282R	{"CFTR": {"E193K": 1, "W1282R": 1}}	\N
7474705	7473439	K1060T/S549R(A>C)	{"CFTR": {"K1060T": 1, "S549R(A>C)": 1}}	\N
7474706	7473439	E193K/I807M	{"CFTR": {"E193K": 1, "I807M": 1}}	\N
7474707	7473439	S549N/S549R(A>C)	{"CFTR": {"S549N": 1, "S549R(A>C)": 1}}	\N
7474708	7473439	H939R/L1480P	{"CFTR": {"H939R": 1, "L1480P": 1}}	\N
7474709	7473439	H1375P/K1060T	{"CFTR": {"H1375P": 1, "K1060T": 1}}	\N
7474710	7473439	M952I(G>T)/R792G	{"CFTR": {"R792G": 1, "M952I(G>T)": 1}}	\N
7474711	7473439	E822K/L206W	{"CFTR": {"E822K": 1, "L206W": 1}}	\N
7474712	7473439	D579G/S945L	{"CFTR": {"D579G": 1, "S945L": 1}}	\N
7474713	7473439	E193K/R170H	{"CFTR": {"E193K": 1, "R170H": 1}}	\N
7474714	7473439	R347L/W1282R	{"CFTR": {"R347L": 1, "W1282R": 1}}	\N
7474715	7473439	E822K/G576A	{"CFTR": {"E822K": 1, "G576A": 1}}	\N
7474716	7473439	711+3A->G/G194R(G>C)	{"CFTR": {"711+3A->G": 1, "G194R(G>C)": 1}}	\N
7474717	7473439	D924N/S1159P	{"CFTR": {"D924N": 1, "S1159P": 1}}	\N
7474718	7473439	F1052V/G970D	{"CFTR": {"G970D": 1, "F1052V": 1}}	\N
7474719	7473439	F311del/T1053I	{"CFTR": {"T1053I": 1, "F311del": 1}}	\N
7474720	7473439	3272-26A->G/Y1032C	{"CFTR": {"Y1032C": 1, "3272-26A->G": 1}}	\N
7474721	7473439	A349V/D1270N	{"CFTR": {"A349V": 1, "D1270N": 1}}	\N
7474722	7473439	S1159P/S1251N	{"CFTR": {"S1159P": 1, "S1251N": 1}}	\N
7474723	7473439	D110E/S1159P	{"CFTR": {"D110E": 1, "S1159P": 1}}	\N
7474724	7473439	E831X/G1069R	{"CFTR": {"E831X": 1, "G1069R": 1}}	\N
7474725	7473439	D192G/G970D	{"CFTR": {"D192G": 1, "G970D": 1}}	\N
7474726	7473439	R1070Q/S589N	{"CFTR": {"S589N": 1, "R1070Q": 1}}	\N
7474727	7473439	R117L/S589N	{"CFTR": {"R117L": 1, "S589N": 1}}	\N
7474728	7473439	711+3A->G/S737F	{"CFTR": {"S737F": 1, "711+3A->G": 1}}	\N
7474729	7473439	A120T/I1027T	{"CFTR": {"A120T": 1, "I1027T": 1}}	\N
7474730	7473439	D1270N/W1282R	{"CFTR": {"D1270N": 1, "W1282R": 1}}	\N
7474731	7473439	G314E/I175V	{"CFTR": {"G314E": 1, "I175V": 1}}	\N
7474732	7473439	G178E/Y1014C	{"CFTR": {"G178E": 1, "Y1014C": 1}}	\N
7474733	7473439	G178R/L997F(G>T)	{"CFTR": {"G178R": 1, "L997F(G>T)": 1}}	\N
7474734	7473439	G178R/R1162L	{"CFTR": {"G178R": 1, "R1162L": 1}}	\N
7474735	7473439	M952I(G>T)/R352Q	{"CFTR": {"R352Q": 1, "M952I(G>T)": 1}}	\N
7474736	7473439	D924N/T338I	{"CFTR": {"D924N": 1, "T338I": 1}}	\N
7474737	7473439	R1070W/S1255P	{"CFTR": {"R1070W": 1, "S1255P": 1}}	\N
7474738	7473439	G1069R/I807M	{"CFTR": {"I807M": 1, "G1069R": 1}}	\N
7474739	7473439	D110H/S1159P	{"CFTR": {"D110H": 1, "S1159P": 1}}	\N
7474740	7473439	3849+10kbC->T/I175V	{"CFTR": {"I175V": 1, "3849+10kbC->T": 1}}	\N
7474741	7473439	I1139V/M952T	{"CFTR": {"M952T": 1, "I1139V": 1}}	\N
7474742	7473439	A234D/S1159P	{"CFTR": {"A234D": 1, "S1159P": 1}}	\N
7474743	7473439	D192G/L997F(G>C)	{"CFTR": {"D192G": 1, "L997F(G>C)": 1}}	\N
7474744	7473439	D110H/S1159F	{"CFTR": {"D110H": 1, "S1159F": 1}}	\N
7474745	7473439	G1244E/M952I(G>A)	{"CFTR": {"G1244E": 1, "M952I(G>A)": 1}}	\N
7474746	7473439	R75Q/S945L	{"CFTR": {"R75Q": 1, "S945L": 1}}	\N
7474747	7473439	D579G/G576A	{"CFTR": {"D579G": 1, "G576A": 1}}	\N
7474748	7473439	F311del/G970D	{"CFTR": {"G970D": 1, "F311del": 1}}	\N
7474749	7473439	G551S/S549R(T>G)	{"CFTR": {"G551S": 1, "S549R(T>G)": 1}}	\N
7474750	7473439	711+3A->G/G194R(G>A)	{"CFTR": {"711+3A->G": 1, "G194R(G>A)": 1}}	\N
7474751	7473439	R792G/R1162L	{"CFTR": {"R792G": 1, "R1162L": 1}}	\N
7474752	7473439	L320V/V754M	{"CFTR": {"L320V": 1, "V754M": 1}}	\N
7474753	7473439	F311del/L997F(G>C)	{"CFTR": {"F311del": 1, "L997F(G>C)": 1}}	\N
7474754	7473439	R117L/R1283M	{"CFTR": {"R117L": 1, "R1283M": 1}}	\N
7474755	7473439	G1249R(G>A)/K1060T	{"CFTR": {"K1060T": 1, "G1249R(G>A)": 1}}	\N
7474756	7473439	711+3A->G/V232D	{"CFTR": {"V232D": 1, "711+3A->G": 1}}	\N
7474757	7473439	M952I(G>C)/R352Q	{"CFTR": {"R352Q": 1, "M952I(G>C)": 1}}	\N
7474758	7473439	3272-26A->G/Q359R	{"CFTR": {"Q359R": 1, "3272-26A->G": 1}}	\N
7474759	7473439	E822K/S589N	{"CFTR": {"E822K": 1, "S589N": 1}}	\N
7474760	7473439	L967S/P67L	{"CFTR": {"P67L": 1, "L967S": 1}}	\N
7474761	7473439	R668C/S945L	{"CFTR": {"R668C": 1, "S945L": 1}}	\N
7474762	7473439	D192G/S549N	{"CFTR": {"D192G": 1, "S549N": 1}}	\N
7474763	7473439	S977F/T1053I	{"CFTR": {"S977F": 1, "T1053I": 1}}	\N
7474764	7473439	H1375P/S549R(T>G)	{"CFTR": {"H1375P": 1, "S549R(T>G)": 1}}	\N
7474765	7473439	M952I(G>C)/W1282R	{"CFTR": {"W1282R": 1, "M952I(G>C)": 1}}	\N
7474766	7473439	Q237H/S1159P	{"CFTR": {"Q237H": 1, "S1159P": 1}}	\N
7474767	7473439	R347H/R668C	{"CFTR": {"R347H": 1, "R668C": 1}}	\N
7474768	7473439	D110E/Y1032C	{"CFTR": {"D110E": 1, "Y1032C": 1}}	\N
7474769	7473439	F508C,S1251N/F1074L	{"CFTR": {"F1074L": 1, "F508C,S1251N": 1}}	\N
7474770	7473439	R1070Q/S1255P	{"CFTR": {"R1070Q": 1, "S1255P": 1}}	\N
7474771	7473439	3272-26A->G/V1293G	{"CFTR": {"V1293G": 1, "3272-26A->G": 1}}	\N
7474772	7473439	Q237H/S1159F	{"CFTR": {"Q237H": 1, "S1159F": 1}}	\N
7474773	7473439	G178E/L967S	{"CFTR": {"G178E": 1, "L967S": 1}}	\N
7474774	7473439	R1162L/S737F	{"CFTR": {"S737F": 1, "R1162L": 1}}	\N
7474775	7473439	F311del/S549N	{"CFTR": {"S549N": 1, "F311del": 1}}	\N
7474776	7473439	G314E/G1244E	{"CFTR": {"G314E": 1, "G1244E": 1}}	\N
7474777	7473439	G1249R(G>A)/R75Q	{"CFTR": {"R75Q": 1, "G1249R(G>A)": 1}}	\N
7474778	7473439	E822K/Q237H	{"CFTR": {"E822K": 1, "Q237H": 1}}	\N
7474779	7473439	I807M/Q359R	{"CFTR": {"I807M": 1, "Q359R": 1}}	\N
7474780	7473439	E822K/Q237E	{"CFTR": {"E822K": 1, "Q237E": 1}}	\N
7474781	7473439	G1249R(G>A)/S549R(T>G)	{"CFTR": {"S549R(T>G)": 1, "G1249R(G>A)": 1}}	\N
7474782	7473439	G194R(G>A)/G1249R(G>C)	{"CFTR": {"G194R(G>A)": 1, "G1249R(G>C)": 1}}	\N
7474783	7473439	L997F(G>T)/R933G	{"CFTR": {"R933G": 1, "L997F(G>T)": 1}}	\N
7474784	7473439	D110E/R117L	{"CFTR": {"D110E": 1, "R117L": 1}}	\N
7474785	7473439	L206W/S977F	{"CFTR": {"L206W": 1, "S977F": 1}}	\N
7474786	7473439	A455E/D192G	{"CFTR": {"A455E": 1, "D192G": 1}}	\N
7474787	7473439	D110E/R117H	{"CFTR": {"D110E": 1, "R117H": 1}}	\N
7474788	7473439	D110E/R117G	{"CFTR": {"D110E": 1, "R117G": 1}}	\N
7474789	7473439	D110E/T338I	{"CFTR": {"D110E": 1, "T338I": 1}}	\N
7474790	7473439	G1244E/M952I(G>C)	{"CFTR": {"G1244E": 1, "M952I(G>C)": 1}}	\N
7474791	7473439	D924N/G1249R(G>C)	{"CFTR": {"D924N": 1, "G1249R(G>C)": 1}}	\N
7474792	7473439	E822K/R1283M	{"CFTR": {"E822K": 1, "R1283M": 1}}	\N
7474793	7473439	D110E/R117C	{"CFTR": {"D110E": 1, "R117C": 1}}	\N
7474794	7473439	R1070Q/R1283M	{"CFTR": {"R1070Q": 1, "R1283M": 1}}	\N
7474795	7473439	F1074L/L997F(G>T)	{"CFTR": {"F1074L": 1, "L997F(G>T)": 1}}	\N
7474796	7473439	G178R/V754M	{"CFTR": {"G178R": 1, "V754M": 1}}	\N
7474797	7473439	G1069R/R792G	{"CFTR": {"R792G": 1, "G1069R": 1}}	\N
7474798	7473439	G194R(G>C)/R1162L	{"CFTR": {"R1162L": 1, "G194R(G>C)": 1}}	\N
7474799	7473439	M952I(G>T)/W1282R	{"CFTR": {"W1282R": 1, "M952I(G>T)": 1}}	\N
7474800	7473439	A455E/R1283M	{"CFTR": {"A455E": 1, "R1283M": 1}}	\N
7474801	7473439	D110E/R553Q	{"CFTR": {"D110E": 1, "R553Q": 1}}	\N
7474802	7473439	R1162L/V232D	{"CFTR": {"V232D": 1, "R1162L": 1}}	\N
7474803	7473439	D110E/E822K	{"CFTR": {"D110E": 1, "E822K": 1}}	\N
7474804	7473439	F508C/L206W	{"CFTR": {"F508C": 1, "L206W": 1}}	\N
7474805	7473439	F311L/R792G	{"CFTR": {"F311L": 1, "R792G": 1}}	\N
7474806	7473439	A455E/F1052V	{"CFTR": {"A455E": 1, "F1052V": 1}}	\N
7474807	7473439	D110E/R117P	{"CFTR": {"D110E": 1, "R117P": 1}}	\N
7474808	7473439	S1159P/S1255P	{"CFTR": {"S1159P": 1, "S1255P": 1}}	\N
7474809	7473439	L320V/S549R(A>C)	{"CFTR": {"L320V": 1, "S549R(A>C)": 1}}	\N
7474810	7473439	R117P/S589N	{"CFTR": {"R117P": 1, "S589N": 1}}	\N
7474811	7473439	R792G/V754M	{"CFTR": {"R792G": 1, "V754M": 1}}	\N
7474812	7473439	S1251N/V232D	{"CFTR": {"V232D": 1, "S1251N": 1}}	\N
7474813	7473439	R74W/Y1014C	{"CFTR": {"R74W": 1, "Y1014C": 1}}	\N
7474814	7473439	M952I(G>C)/R1070W	{"CFTR": {"R1070W": 1, "M952I(G>C)": 1}}	\N
7474815	7473439	D924N/S1159F	{"CFTR": {"D924N": 1, "S1159F": 1}}	\N
7474816	7473439	D1152H/I1139V	{"CFTR": {"D1152H": 1, "I1139V": 1}}	\N
7474817	7473439	A455E/R347L	{"CFTR": {"A455E": 1, "R347L": 1}}	\N
7474818	7473439	G970D/R933G	{"CFTR": {"G970D": 1, "R933G": 1}}	\N
7474819	7473439	M952I(G>C)/R1070Q	{"CFTR": {"R1070Q": 1, "M952I(G>C)": 1}}	\N
7474820	7473439	A455E/R347H	{"CFTR": {"A455E": 1, "R347H": 1}}	\N
7474821	7473439	G194R(G>C)/G1349D	{"CFTR": {"G1349D": 1, "G194R(G>C)": 1}}	\N
7474822	7473439	G1249R(G>C)/S589N	{"CFTR": {"S589N": 1, "G1249R(G>C)": 1}}	\N
7474823	7473439	F508C,S1251N/M952T	{"CFTR": {"M952T": 1, "F508C,S1251N": 1}}	\N
7474824	7473439	G1244E/S945L	{"CFTR": {"S945L": 1, "G1244E": 1}}	\N
7474825	7473439	R1070W/S1251N	{"CFTR": {"R1070W": 1, "S1251N": 1}}	\N
7474826	7473439	V754M/W1282R	{"CFTR": {"V754M": 1, "W1282R": 1}}	\N
7474827	7473439	M152V/R792G	{"CFTR": {"M152V": 1, "R792G": 1}}	\N
7474828	7473439	M952T/M952T	{"CFTR": {"M952T": 2}}	\N
7474829	7473439	G1069R/R1162L	{"CFTR": {"G1069R": 1, "R1162L": 1}}	\N
7474830	7473439	Q359R/R170H	{"CFTR": {"Q359R": 1, "R170H": 1}}	\N
7474831	7473439	L997F(G>C)/R933G	{"CFTR": {"R933G": 1, "L997F(G>C)": 1}}	\N
7474832	7473439	D192G/F311del	{"CFTR": {"D192G": 1, "F311del": 1}}	\N
7474833	7473439	E193K/L997F(G>T)	{"CFTR": {"E193K": 1, "L997F(G>T)": 1}}	\N
7474834	7473439	L320V/R1162L	{"CFTR": {"L320V": 1, "R1162L": 1}}	\N
7474835	7473439	D110H/E822K	{"CFTR": {"D110H": 1, "E822K": 1}}	\N
7474836	7473439	E56K/L1480P	{"CFTR": {"E56K": 1, "L1480P": 1}}	\N
7474837	7473439	Q237E/S1159P	{"CFTR": {"Q237E": 1, "S1159P": 1}}	\N
7474838	7473439	D1270N/R1070W	{"CFTR": {"D1270N": 1, "R1070W": 1}}	\N
7474839	7473439	T338I/T1053I	{"CFTR": {"T338I": 1, "T1053I": 1}}	\N
7474840	7473439	D924N/G1249R(G>A)	{"CFTR": {"D924N": 1, "G1249R(G>A)": 1}}	\N
7474841	7473439	Q237E/S1159F	{"CFTR": {"Q237E": 1, "S1159F": 1}}	\N
7474842	7473439	D924N/D1270N	{"CFTR": {"D924N": 1, "D1270N": 1}}	\N
7474843	7473439	D579G/G314E	{"CFTR": {"D579G": 1, "G314E": 1}}	\N
7474844	7473439	D1270N/R1070Q	{"CFTR": {"D1270N": 1, "R1070Q": 1}}	\N
7474845	7473439	K1060T/L967S	{"CFTR": {"L967S": 1, "K1060T": 1}}	\N
7474846	7473439	G1069R/I148T	{"CFTR": {"I148T": 1, "G1069R": 1}}	\N
7474847	7473439	R117P/R1283M	{"CFTR": {"R117P": 1, "R1283M": 1}}	\N
7474848	7473439	D1152H/Y1032C	{"CFTR": {"D1152H": 1, "Y1032C": 1}}	\N
7474849	7473439	F311L/I148T	{"CFTR": {"F311L": 1, "I148T": 1}}	\N
7474850	7473439	T338I/W1282R	{"CFTR": {"T338I": 1, "W1282R": 1}}	\N
7474851	7473439	H939R/I175V	{"CFTR": {"H939R": 1, "I175V": 1}}	\N
7474852	7473439	I807M/L967S	{"CFTR": {"I807M": 1, "L967S": 1}}	\N
7474853	7473439	E831X/F311del	{"CFTR": {"E831X": 1, "F311del": 1}}	\N
7474854	7473439	E822K/L320V	{"CFTR": {"E822K": 1, "L320V": 1}}	\N
7474855	7473439	H1375P/I175V	{"CFTR": {"I175V": 1, "H1375P": 1}}	\N
7474856	7473439	Q359R/V232D	{"CFTR": {"Q359R": 1, "V232D": 1}}	\N
7474857	7473439	2789+5G->A/R933G	{"CFTR": {"R933G": 1, "2789+5G->A": 1}}	\N
7474858	7473439	S1251N/Y1014C	{"CFTR": {"S1251N": 1, "Y1014C": 1}}	\N
7474859	7473439	A1067T/R1070Q	{"CFTR": {"A1067T": 1, "R1070Q": 1}}	\N
7474860	7473439	L206W/R74W	{"CFTR": {"R74W": 1, "L206W": 1}}	\N
7474861	7473439	L206W/S589N	{"CFTR": {"L206W": 1, "S589N": 1}}	\N
7474862	7473439	S549R(A>C)/S549R(T>G)	{"CFTR": {"S549R(A>C)": 1, "S549R(T>G)": 1}}	\N
7474863	7473439	F508C,S1251N/S945L	{"CFTR": {"S945L": 1, "F508C,S1251N": 1}}	\N
7474864	7473439	A1067T/R1070W	{"CFTR": {"A1067T": 1, "R1070W": 1}}	\N
7474865	7473439	S977F/V1293G	{"CFTR": {"S977F": 1, "V1293G": 1}}	\N
7474866	7473439	A455E/E822K	{"CFTR": {"A455E": 1, "E822K": 1}}	\N
7474867	7473439	L1480P/S977F	{"CFTR": {"S977F": 1, "L1480P": 1}}	\N
7474868	7473439	D924N/G970D	{"CFTR": {"D924N": 1, "G970D": 1}}	\N
7474869	7473439	G576A/G1249R(G>C)	{"CFTR": {"G576A": 1, "G1249R(G>C)": 1}}	\N
7474870	7473439	R668C/Y1014C	{"CFTR": {"R668C": 1, "Y1014C": 1}}	\N
7474871	7473439	2789+5G->A/A1067T	{"CFTR": {"A1067T": 1, "2789+5G->A": 1}}	\N
7474872	7473439	G1249R(G>A)/S1159P	{"CFTR": {"S1159P": 1, "G1249R(G>A)": 1}}	\N
7474873	7473439	711+3A->G/Q1291R	{"CFTR": {"Q1291R": 1, "711+3A->G": 1}}	\N
7474874	7473439	R347H/T338I	{"CFTR": {"R347H": 1, "T338I": 1}}	\N
7474875	7473439	R553Q/S549R(T>G)	{"CFTR": {"R553Q": 1, "S549R(T>G)": 1}}	\N
7474876	7473439	Q1291R/S1159P	{"CFTR": {"Q1291R": 1, "S1159P": 1}}	\N
7474877	7473439	R347L/V1293G	{"CFTR": {"R347L": 1, "V1293G": 1}}	\N
7474878	7473439	E831X/Y1014C	{"CFTR": {"E831X": 1, "Y1014C": 1}}	\N
7474879	7473439	G1249R(G>A)/S1159F	{"CFTR": {"S1159F": 1, "G1249R(G>A)": 1}}	\N
7474880	7473439	H939R/S589N	{"CFTR": {"H939R": 1, "S589N": 1}}	\N
7474881	7473439	Q1291R/S1159F	{"CFTR": {"Q1291R": 1, "S1159F": 1}}	\N
7474882	7473439	D110E/G970D	{"CFTR": {"D110E": 1, "G970D": 1}}	\N
7474883	7473439	D1152H/Q359R	{"CFTR": {"Q359R": 1, "D1152H": 1}}	\N
7474884	7473439	G1349D/L967S	{"CFTR": {"L967S": 1, "G1349D": 1}}	\N
7474885	7473439	Q359R/S737F	{"CFTR": {"Q359R": 1, "S737F": 1}}	\N
7474886	7473439	G576A/R347H	{"CFTR": {"G576A": 1, "R347H": 1}}	\N
7474887	7473439	3849+10kbC->T/S549R(A>C)	{"CFTR": {"S549R(A>C)": 1, "3849+10kbC->T": 1}}	\N
7474888	7473439	G576A/R347L	{"CFTR": {"G576A": 1, "R347L": 1}}	\N
7474889	7473439	A1067T/I1027T	{"CFTR": {"A1067T": 1, "I1027T": 1}}	\N
7474890	7473439	R553Q/R933G	{"CFTR": {"R553Q": 1, "R933G": 1}}	\N
7474891	7473439	D1270N/S1159P	{"CFTR": {"D1270N": 1, "S1159P": 1}}	\N
7474892	7473439	F508C/W1282R	{"CFTR": {"F508C": 1, "W1282R": 1}}	\N
7474893	7473439	F1052V/G1349D	{"CFTR": {"F1052V": 1, "G1349D": 1}}	\N
7474894	7473439	R117P/R933G	{"CFTR": {"R117P": 1, "R933G": 1}}	\N
7474895	7473439	3849+10kbC->T/V754M	{"CFTR": {"V754M": 1, "3849+10kbC->T": 1}}	\N
7474896	7473439	E56K/R1283M	{"CFTR": {"E56K": 1, "R1283M": 1}}	\N
7474897	7473439	D110E/D110E	{"CFTR": {"D110E": 2}}	\N
7474898	7473439	E822K/V1293G	{"CFTR": {"E822K": 1, "V1293G": 1}}	\N
7474899	7473439	D1270N/S1159F	{"CFTR": {"D1270N": 1, "S1159F": 1}}	\N
7474900	7473439	S549N/S977F	{"CFTR": {"S549N": 1, "S977F": 1}}	\N
7474901	7473439	D110E/D110H	{"CFTR": {"D110E": 1, "D110H": 1}}	\N
7474902	7473439	E822K/T338I	{"CFTR": {"E822K": 1, "T338I": 1}}	\N
7474903	7473439	3272-26A->G/D192G	{"CFTR": {"D192G": 1, "3272-26A->G": 1}}	\N
7474904	7473439	A455E/Q359R	{"CFTR": {"A455E": 1, "Q359R": 1}}	\N
7474905	7473439	I148T/P67L	{"CFTR": {"P67L": 1, "I148T": 1}}	\N
7474906	7473439	711+3A->G/M952T	{"CFTR": {"M952T": 1, "711+3A->G": 1}}	\N
7474907	7473439	M952T/W1282R	{"CFTR": {"M952T": 1, "W1282R": 1}}	\N
7474908	7473439	2789+5G->A/S549R(T>G)	{"CFTR": {"2789+5G->A": 1, "S549R(T>G)": 1}}	\N
7474909	7473439	V1293G/W1282R	{"CFTR": {"V1293G": 1, "W1282R": 1}}	\N
7474910	7473439	Q1291R/R352Q	{"CFTR": {"R352Q": 1, "Q1291R": 1}}	\N
7474911	7473439	G314E/Y1032C	{"CFTR": {"G314E": 1, "Y1032C": 1}}	\N
7474912	7473439	G314E/L206W	{"CFTR": {"G314E": 1, "L206W": 1}}	\N
7474913	7473439	G194R(G>A)/V562I	{"CFTR": {"V562I": 1, "G194R(G>A)": 1}}	\N
7474914	7473439	G576A/G1249R(G>A)	{"CFTR": {"G576A": 1, "G1249R(G>A)": 1}}	\N
7474915	7473439	G178E/S549R(T>G)	{"CFTR": {"G178E": 1, "S549R(T>G)": 1}}	\N
7474916	7473439	R75Q/R668C	{"CFTR": {"R75Q": 1, "R668C": 1}}	\N
7474917	7473439	F508C/V562I	{"CFTR": {"F508C": 1, "V562I": 1}}	\N
7474918	7473439	E193K/S977F	{"CFTR": {"E193K": 1, "S977F": 1}}	\N
7474919	7473439	F1074L/M952I(G>T)	{"CFTR": {"F1074L": 1, "M952I(G>T)": 1}}	\N
7474920	7473439	F1052V/S737F	{"CFTR": {"S737F": 1, "F1052V": 1}}	\N
7474921	7473439	A349V/H1375P	{"CFTR": {"A349V": 1, "H1375P": 1}}	\N
7474922	7473439	G178E/R933G	{"CFTR": {"G178E": 1, "R933G": 1}}	\N
7474923	7473439	G1249R(G>A)/R792G	{"CFTR": {"R792G": 1, "G1249R(G>A)": 1}}	\N
7474924	7473439	M952I(G>A)/R170H	{"CFTR": {"R170H": 1, "M952I(G>A)": 1}}	\N
7474925	7473439	L206W/R75Q	{"CFTR": {"R75Q": 1, "L206W": 1}}	\N
7474926	7473439	G178E/G1349D	{"CFTR": {"G178E": 1, "G1349D": 1}}	\N
7474927	7473439	I175V/S945L	{"CFTR": {"I175V": 1, "S945L": 1}}	\N
7474928	7473439	3849+10kbC->T/G314E	{"CFTR": {"G314E": 1, "3849+10kbC->T": 1}}	\N
7474929	7473439	3849+10kbC->T/G576A	{"CFTR": {"G576A": 1, "3849+10kbC->T": 1}}	\N
7474930	7473439	A120T/G178E	{"CFTR": {"A120T": 1, "G178E": 1}}	\N
7474931	7473439	2789+5G->A/D1270N	{"CFTR": {"D1270N": 1, "2789+5G->A": 1}}	\N
7474932	7473439	A120T/R170H	{"CFTR": {"A120T": 1, "R170H": 1}}	\N
7474933	7473439	L997F(G>C)/L997F(G>C)	{"CFTR": {"L997F(G>C)": 2}}	\N
7474934	7473439	R117P/S549R(T>G)	{"CFTR": {"R117P": 1, "S549R(T>G)": 1}}	\N
7474935	7473439	D1152H/F1074L	{"CFTR": {"D1152H": 1, "F1074L": 1}}	\N
7474936	7473439	D1270N/G970D	{"CFTR": {"G970D": 1, "D1270N": 1}}	\N
7474937	7473439	G576A/R1162L	{"CFTR": {"G576A": 1, "R1162L": 1}}	\N
7474938	7473439	Q237H/V562I	{"CFTR": {"Q237H": 1, "V562I": 1}}	\N
7474939	7473439	L967S/V562I	{"CFTR": {"L967S": 1, "V562I": 1}}	\N
7474940	7473439	M152V/Y1014C	{"CFTR": {"M152V": 1, "Y1014C": 1}}	\N
7474941	7473439	G314E/S589N	{"CFTR": {"G314E": 1, "S589N": 1}}	\N
7474942	7473439	G1244E/R75Q	{"CFTR": {"R75Q": 1, "G1244E": 1}}	\N
7474943	7473439	D110E/R352Q	{"CFTR": {"D110E": 1, "R352Q": 1}}	\N
7474944	7473439	R75Q/S737F	{"CFTR": {"R75Q": 1, "S737F": 1}}	\N
7474945	7473439	H939R/R75Q	{"CFTR": {"R75Q": 1, "H939R": 1}}	\N
7474946	7473439	R75Q/V232D	{"CFTR": {"R75Q": 1, "V232D": 1}}	\N
7474947	7473439	A455E/H939R	{"CFTR": {"A455E": 1, "H939R": 1}}	\N
7474948	7473439	I807M/M952I(G>C)	{"CFTR": {"I807M": 1, "M952I(G>C)": 1}}	\N
7474949	7473439	F311L/G194R(G>C)	{"CFTR": {"F311L": 1, "G194R(G>C)": 1}}	\N
7474950	7473439	H1375P/R74W	{"CFTR": {"R74W": 1, "H1375P": 1}}	\N
7474951	7473439	3272-26A->G/R170H	{"CFTR": {"R170H": 1, "3272-26A->G": 1}}	\N
7474952	7473439	H939R/L206W	{"CFTR": {"H939R": 1, "L206W": 1}}	\N
7474953	7473439	H939R/R74W	{"CFTR": {"R74W": 1, "H939R": 1}}	\N
7474954	7473439	A234D/Q1291R	{"CFTR": {"A234D": 1, "Q1291R": 1}}	\N
7474955	7473439	G194R(G>C)/M952I(G>T)	{"CFTR": {"G194R(G>C)": 1, "M952I(G>T)": 1}}	\N
7474956	7473439	I807M/S549R(T>G)	{"CFTR": {"I807M": 1, "S549R(T>G)": 1}}	\N
7474957	7473439	I1139V/Y1014C	{"CFTR": {"I1139V": 1, "Y1014C": 1}}	\N
7474958	7473439	H1375P/R75Q	{"CFTR": {"R75Q": 1, "H1375P": 1}}	\N
7474959	7473439	F1074L/R933G	{"CFTR": {"R933G": 1, "F1074L": 1}}	\N
7474960	7473439	I1027T/W1282R	{"CFTR": {"I1027T": 1, "W1282R": 1}}	\N
7474961	7473439	I175V/Q237E	{"CFTR": {"I175V": 1, "Q237E": 1}}	\N
7474962	7473439	G1244E/R74W	{"CFTR": {"R74W": 1, "G1244E": 1}}	\N
7474963	7473439	H1375P/R1070W	{"CFTR": {"H1375P": 1, "R1070W": 1}}	\N
7474964	7473439	D579G/L997F(G>T)	{"CFTR": {"D579G": 1, "L997F(G>T)": 1}}	\N
7474965	7473439	H1375P/R1070Q	{"CFTR": {"H1375P": 1, "R1070Q": 1}}	\N
7474966	7473439	I175V/Q237H	{"CFTR": {"I175V": 1, "Q237H": 1}}	\N
7474967	7473439	E193K/F1074L	{"CFTR": {"E193K": 1, "F1074L": 1}}	\N
7474968	7473439	V232D/W1282R	{"CFTR": {"V232D": 1, "W1282R": 1}}	\N
7474969	7473439	H939R/R1070Q	{"CFTR": {"H939R": 1, "R1070Q": 1}}	\N
7474970	7473439	G551S/L997F(G>T)	{"CFTR": {"G551S": 1, "L997F(G>T)": 1}}	\N
7474971	7473439	711+3A->G/H1375P	{"CFTR": {"H1375P": 1, "711+3A->G": 1}}	\N
7474972	7473439	2789+5G->A/I1139V	{"CFTR": {"I1139V": 1, "2789+5G->A": 1}}	\N
7474973	7473439	L320V/S1251N	{"CFTR": {"L320V": 1, "S1251N": 1}}	\N
7474974	7473439	P67L/R170H	{"CFTR": {"P67L": 1, "R170H": 1}}	\N
7474975	7473439	T1053I/V1293G	{"CFTR": {"T1053I": 1, "V1293G": 1}}	\N
7474976	7473439	L320V/M152V	{"CFTR": {"L320V": 1, "M152V": 1}}	\N
7474977	7473439	Q359R/R668C	{"CFTR": {"Q359R": 1, "R668C": 1}}	\N
7474978	7473439	S737F/T338I	{"CFTR": {"S737F": 1, "T338I": 1}}	\N
7474979	7473439	I1027T/S977F	{"CFTR": {"S977F": 1, "I1027T": 1}}	\N
7474980	7473439	G1069R/Q237H	{"CFTR": {"Q237H": 1, "G1069R": 1}}	\N
7474981	7473439	G1069R/Q237E	{"CFTR": {"Q237E": 1, "G1069R": 1}}	\N
7474982	7473439	H939R/R1070W	{"CFTR": {"H939R": 1, "R1070W": 1}}	\N
7474983	7473439	F1052V/M152V	{"CFTR": {"M152V": 1, "F1052V": 1}}	\N
7474984	7473439	F1052V/R668C	{"CFTR": {"R668C": 1, "F1052V": 1}}	\N
7474985	7473439	L206W/Q237E	{"CFTR": {"L206W": 1, "Q237E": 1}}	\N
7474986	7473439	A349V/M952T	{"CFTR": {"A349V": 1, "M952T": 1}}	\N
7474987	7473439	F311L/G194R(G>A)	{"CFTR": {"F311L": 1, "G194R(G>A)": 1}}	\N
7474988	7473439	A234D/L997F(G>T)	{"CFTR": {"A234D": 1, "L997F(G>T)": 1}}	\N
7474989	7473439	Q237E/V562I	{"CFTR": {"Q237E": 1, "V562I": 1}}	\N
7474990	7473439	711+3A->G/S1255P	{"CFTR": {"S1255P": 1, "711+3A->G": 1}}	\N
7474991	7473439	L206W/Q237H	{"CFTR": {"L206W": 1, "Q237H": 1}}	\N
7474992	7473439	L206W/Y1032C	{"CFTR": {"L206W": 1, "Y1032C": 1}}	\N
7474993	7473439	F508C,S1251N/G576A	{"CFTR": {"G576A": 1, "F508C,S1251N": 1}}	\N
7474994	7473439	2789+5G->A/S1251N	{"CFTR": {"S1251N": 1, "2789+5G->A": 1}}	\N
7474995	7473439	A120T/D192G	{"CFTR": {"A120T": 1, "D192G": 1}}	\N
7474996	7473439	A120T/G178R	{"CFTR": {"A120T": 1, "G178R": 1}}	\N
7474997	7473439	R117L/S549R(T>G)	{"CFTR": {"R117L": 1, "S549R(T>G)": 1}}	\N
7474998	7473439	2789+5G->A/L967S	{"CFTR": {"L967S": 1, "2789+5G->A": 1}}	\N
7474999	7473439	F508C,S1251N/G194R(G>C)	{"CFTR": {"G194R(G>C)": 1, "F508C,S1251N": 1}}	\N
7475000	7473439	3272-26A->G/A120T	{"CFTR": {"A120T": 1, "3272-26A->G": 1}}	\N
7475001	7473439	G178R/L967S	{"CFTR": {"G178R": 1, "L967S": 1}}	\N
7475002	7473439	G194R(G>C)/V232D	{"CFTR": {"V232D": 1, "G194R(G>C)": 1}}	\N
7475003	7473439	F508C/Q359R	{"CFTR": {"F508C": 1, "Q359R": 1}}	\N
7475004	7473439	L206W/R1070Q	{"CFTR": {"L206W": 1, "R1070Q": 1}}	\N
7475005	7473439	3849+10kbC->T/S1159P	{"CFTR": {"S1159P": 1, "3849+10kbC->T": 1}}	\N
7475006	7473439	711+3A->G/Y1014C	{"CFTR": {"Y1014C": 1, "711+3A->G": 1}}	\N
7475007	7473439	L320V/V232D	{"CFTR": {"L320V": 1, "V232D": 1}}	\N
7475008	7473439	I807M/R933G	{"CFTR": {"I807M": 1, "R933G": 1}}	\N
7475009	7473439	K1060T/L1480P	{"CFTR": {"K1060T": 1, "L1480P": 1}}	\N
7475010	7473439	D110E/R170H	{"CFTR": {"D110E": 1, "R170H": 1}}	\N
7475011	7473439	G194R(G>C)/H1375P	{"CFTR": {"H1375P": 1, "G194R(G>C)": 1}}	\N
7475012	7473439	G194R(G>A)/Q359R	{"CFTR": {"Q359R": 1, "G194R(G>A)": 1}}	\N
7475013	7473439	3272-26A->G/F508C	{"CFTR": {"F508C": 1, "3272-26A->G": 1}}	\N
7475014	7473439	D924N/R170H	{"CFTR": {"D924N": 1, "R170H": 1}}	\N
7475015	7473439	711+3A->G/I1139V	{"CFTR": {"I1139V": 1, "711+3A->G": 1}}	\N
7475016	7473439	E822K/F508C,S1251N	{"CFTR": {"E822K": 1, "F508C,S1251N": 1}}	\N
7475017	7473439	G178R/T1053I	{"CFTR": {"G178R": 1, "T1053I": 1}}	\N
7475018	7473439	711+3A->G/M952I(G>T)	{"CFTR": {"711+3A->G": 1, "M952I(G>T)": 1}}	\N
7475019	7473439	G1244E/Y1032C	{"CFTR": {"G1244E": 1, "Y1032C": 1}}	\N
7475020	7473439	F311L/S549N	{"CFTR": {"F311L": 1, "S549N": 1}}	\N
7475021	7473439	D1152H/V562I	{"CFTR": {"V562I": 1, "D1152H": 1}}	\N
7475022	7473439	L320V/S737F	{"CFTR": {"L320V": 1, "S737F": 1}}	\N
7475023	7473439	3849+10kbC->T/S1159F	{"CFTR": {"S1159F": 1, "3849+10kbC->T": 1}}	\N
7475024	7473439	P67L/R347L	{"CFTR": {"P67L": 1, "R347L": 1}}	\N
7475025	7473439	G1349D/R933G	{"CFTR": {"R933G": 1, "G1349D": 1}}	\N
7475026	7473439	P67L/R347H	{"CFTR": {"P67L": 1, "R347H": 1}}	\N
7475027	7473439	S945L/V562I	{"CFTR": {"S945L": 1, "V562I": 1}}	\N
7475028	7473439	A1067T/V562I	{"CFTR": {"V562I": 1, "A1067T": 1}}	\N
7475029	7473439	F508C,S1251N/G194R(G>A)	{"CFTR": {"G194R(G>A)": 1, "F508C,S1251N": 1}}	\N
7475030	7473439	D110E/P67L	{"CFTR": {"P67L": 1, "D110E": 1}}	\N
7475031	7473439	R74W/S1251N	{"CFTR": {"R74W": 1, "S1251N": 1}}	\N
7475032	7473439	D192G/E193K	{"CFTR": {"D192G": 1, "E193K": 1}}	\N
7475033	7473439	G1244E/R347L	{"CFTR": {"R347L": 1, "G1244E": 1}}	\N
7475034	7473439	E56K/G551S	{"CFTR": {"E56K": 1, "G551S": 1}}	\N
7475035	7473439	2789+5G->A/M952I(G>T)	{"CFTR": {"2789+5G->A": 1, "M952I(G>T)": 1}}	\N
7475036	7473439	G1244E/R347H	{"CFTR": {"R347H": 1, "G1244E": 1}}	\N
7475037	7473439	R170H/R933G	{"CFTR": {"R170H": 1, "R933G": 1}}	\N
7475038	7473439	I175V/S549R(A>C)	{"CFTR": {"I175V": 1, "S549R(A>C)": 1}}	\N
7475039	7473439	R117H/R933G	{"CFTR": {"R117H": 1, "R933G": 1}}	\N
7475040	7473439	R352Q/S1255P	{"CFTR": {"R352Q": 1, "S1255P": 1}}	\N
7475041	7473439	G1244E/R1070Q	{"CFTR": {"G1244E": 1, "R1070Q": 1}}	\N
7475042	7473439	A120T/F508C	{"CFTR": {"A120T": 1, "F508C": 1}}	\N
7475043	7473439	G194R(G>C)/S1251N	{"CFTR": {"S1251N": 1, "G194R(G>C)": 1}}	\N
7475044	7473439	R1283M/R1283M	{"CFTR": {"R1283M": 2}}	\N
7475045	7473439	A1067T/I175V	{"CFTR": {"I175V": 1, "A1067T": 1}}	\N
7475046	7473439	L967S/Q359R	{"CFTR": {"L967S": 1, "Q359R": 1}}	\N
7475047	7473439	D579G/S1255P	{"CFTR": {"D579G": 1, "S1255P": 1}}	\N
7475048	7473439	A455E/D579G	{"CFTR": {"A455E": 1, "D579G": 1}}	\N
7475049	7473439	G1244E/R1070W	{"CFTR": {"G1244E": 1, "R1070W": 1}}	\N
7475050	7473439	711+3A->G/A455E	{"CFTR": {"A455E": 1, "711+3A->G": 1}}	\N
7475051	7473439	A234D/H1375P	{"CFTR": {"A234D": 1, "H1375P": 1}}	\N
7475052	7473439	G1349D/M952I(G>A)	{"CFTR": {"G1349D": 1, "M952I(G>A)": 1}}	\N
7475053	7473439	G1249R(G>C)/S977F	{"CFTR": {"S977F": 1, "G1249R(G>C)": 1}}	\N
7475054	7473439	R1162L/R1162L	{"CFTR": {"R1162L": 2}}	\N
7475055	7473439	F1052V/I148T	{"CFTR": {"I148T": 1, "F1052V": 1}}	\N
7475056	7473439	3272-26A->G/G178E	{"CFTR": {"G178E": 1, "3272-26A->G": 1}}	\N
7475057	7473439	G1244E/I1027T	{"CFTR": {"G1244E": 1, "I1027T": 1}}	\N
7475058	7473439	H939R/Q237E	{"CFTR": {"H939R": 1, "Q237E": 1}}	\N
7475059	7473439	M952I(G>A)/S549N	{"CFTR": {"S549N": 1, "M952I(G>A)": 1}}	\N
7475060	7473439	G178R/G970D	{"CFTR": {"G178R": 1, "G970D": 1}}	\N
7475061	7473439	G1249R(G>A)/R668C	{"CFTR": {"R668C": 1, "G1249R(G>A)": 1}}	\N
7475062	7473439	H939R/Q237H	{"CFTR": {"H939R": 1, "Q237H": 1}}	\N
7475063	7473439	G194R(G>C)/S737F	{"CFTR": {"S737F": 1, "G194R(G>C)": 1}}	\N
7475064	7473439	2789+5G->A/S1255P	{"CFTR": {"S1255P": 1, "2789+5G->A": 1}}	\N
7475065	7473439	E56K/G551D	{"CFTR": {"E56K": 1, "G551D": 1}}	\N
7475066	7473439	3272-26A->G/G178R	{"CFTR": {"G178R": 1, "3272-26A->G": 1}}	\N
7475067	7473439	L320V/M952I(G>C)	{"CFTR": {"L320V": 1, "M952I(G>C)": 1}}	\N
7475068	7473439	R75Q/R792G	{"CFTR": {"R75Q": 1, "R792G": 1}}	\N
7475069	7473439	I1139V/K1060T	{"CFTR": {"I1139V": 1, "K1060T": 1}}	\N
7475070	7473439	M952T/S977F	{"CFTR": {"M952T": 1, "S977F": 1}}	\N
7475071	7473439	L206W/R1070W	{"CFTR": {"L206W": 1, "R1070W": 1}}	\N
7475072	7473439	R117H/S549R(T>G)	{"CFTR": {"R117H": 1, "S549R(T>G)": 1}}	\N
7475073	7473439	F1052V/I1139V	{"CFTR": {"F1052V": 1, "I1139V": 1}}	\N
7475074	7473439	I148T/R170H	{"CFTR": {"I148T": 1, "R170H": 1}}	\N
7475075	7473439	F1074L/T1053I	{"CFTR": {"F1074L": 1, "T1053I": 1}}	\N
7475076	7473439	F508C,S1251N/G314E	{"CFTR": {"G314E": 1, "F508C,S1251N": 1}}	\N
7475077	7473439	S549R(A>C)/S1255P	{"CFTR": {"S1255P": 1, "S549R(A>C)": 1}}	\N
7475078	7473439	M952I(G>C)/Y1014C	{"CFTR": {"Y1014C": 1, "M952I(G>C)": 1}}	\N
7475079	7473439	F1074L/L967S	{"CFTR": {"L967S": 1, "F1074L": 1}}	\N
7475080	7473439	V232D/Y1032C	{"CFTR": {"V232D": 1, "Y1032C": 1}}	\N
7475081	7473439	A120T/G194R(G>C)	{"CFTR": {"A120T": 1, "G194R(G>C)": 1}}	\N
7475082	7473439	P67L/S549N	{"CFTR": {"P67L": 1, "S549N": 1}}	\N
7475083	7473439	R170H/S549R(T>G)	{"CFTR": {"R170H": 1, "S549R(T>G)": 1}}	\N
7475084	7473439	A120T/R75Q	{"CFTR": {"R75Q": 1, "A120T": 1}}	\N
7475085	7473439	G314E/Q237E	{"CFTR": {"G314E": 1, "Q237E": 1}}	\N
7475086	7473439	R117G/S549R(T>G)	{"CFTR": {"R117G": 1, "S549R(T>G)": 1}}	\N
7475087	7473439	G314E/Q237H	{"CFTR": {"G314E": 1, "Q237H": 1}}	\N
7475088	7473439	R792G/Y1014C	{"CFTR": {"R792G": 1, "Y1014C": 1}}	\N
7475089	7473439	A120T/R74W	{"CFTR": {"R74W": 1, "A120T": 1}}	\N
7475090	7473439	R933G/S549N	{"CFTR": {"R933G": 1, "S549N": 1}}	\N
7475091	7473439	I175V/R74W	{"CFTR": {"R74W": 1, "I175V": 1}}	\N
7475092	7473439	A349V/Q1291R	{"CFTR": {"A349V": 1, "Q1291R": 1}}	\N
7475093	7473439	D579G/M952T	{"CFTR": {"D579G": 1, "M952T": 1}}	\N
7475094	7473439	I1139V/L320V	{"CFTR": {"L320V": 1, "I1139V": 1}}	\N
7475095	7473439	G1349D/M952I(G>C)	{"CFTR": {"G1349D": 1, "M952I(G>C)": 1}}	\N
7475096	7473439	F311del/K1060T	{"CFTR": {"K1060T": 1, "F311del": 1}}	\N
7475097	7473439	F311L/R170H	{"CFTR": {"F311L": 1, "R170H": 1}}	\N
7475098	7473439	G576A/S549N	{"CFTR": {"G576A": 1, "S549N": 1}}	\N
7475099	7473439	G970D/L997F(G>C)	{"CFTR": {"G970D": 1, "L997F(G>C)": 1}}	\N
7475100	7473439	S589N/T338I	{"CFTR": {"S589N": 1, "T338I": 1}}	\N
7475101	7473439	G551D/R1283M	{"CFTR": {"G551D": 1, "R1283M": 1}}	\N
7475102	7473439	A349V/L997F(G>C)	{"CFTR": {"A349V": 1, "L997F(G>C)": 1}}	\N
7475103	7473439	I175V/R75Q	{"CFTR": {"R75Q": 1, "I175V": 1}}	\N
7475104	7473439	D110H/R170H	{"CFTR": {"D110H": 1, "R170H": 1}}	\N
7475105	7473439	T338I/V562I	{"CFTR": {"T338I": 1, "V562I": 1}}	\N
7475106	7473439	3272-26A->G/G1249R(G>A)	{"CFTR": {"3272-26A->G": 1, "G1249R(G>A)": 1}}	\N
7475107	7473439	R74W/S1255P	{"CFTR": {"R74W": 1, "S1255P": 1}}	\N
7475108	7473439	F1074L/L997F(G>C)	{"CFTR": {"F1074L": 1, "L997F(G>C)": 1}}	\N
7475109	7473439	A120T/G194R(G>A)	{"CFTR": {"A120T": 1, "G194R(G>A)": 1}}	\N
7475110	7473439	3849+10kbC->T/A349V	{"CFTR": {"A349V": 1, "3849+10kbC->T": 1}}	\N
7475111	7473439	I807M/S1251N	{"CFTR": {"I807M": 1, "S1251N": 1}}	\N
7475112	7473439	M952I(G>A)/Y1032C	{"CFTR": {"Y1032C": 1, "M952I(G>A)": 1}}	\N
7475113	7473439	I1139V/L1480P	{"CFTR": {"I1139V": 1, "L1480P": 1}}	\N
7475114	7473439	F1052V/F1052V	{"CFTR": {"F1052V": 2}}	\N
7475115	7473439	R117L/R933G	{"CFTR": {"R117L": 1, "R933G": 1}}	\N
7475116	7473439	M952I(G>A)/R347L	{"CFTR": {"R347L": 1, "M952I(G>A)": 1}}	\N
7475117	7473439	D192G/M952I(G>T)	{"CFTR": {"D192G": 1, "M952I(G>T)": 1}}	\N
7475118	7473439	E822K/L1480P	{"CFTR": {"E822K": 1, "L1480P": 1}}	\N
7475119	7473439	Q237H/Q359R	{"CFTR": {"Q237H": 1, "Q359R": 1}}	\N
7475120	7473439	M952I(G>T)/Y1014C	{"CFTR": {"Y1014C": 1, "M952I(G>T)": 1}}	\N
7475121	7473439	V754M/Y1014C	{"CFTR": {"V754M": 1, "Y1014C": 1}}	\N
7475122	7473439	2789+5G->A/F1052V	{"CFTR": {"F1052V": 1, "2789+5G->A": 1}}	\N
7475123	7473439	I175V/L206W	{"CFTR": {"I175V": 1, "L206W": 1}}	\N
7475124	7473439	A120T/A120T	{"CFTR": {"A120T": 2}}	\N
7475125	7473439	G1069R/S945L	{"CFTR": {"S945L": 1, "G1069R": 1}}	\N
7475126	7473439	G1249R(G>A)/S737F	{"CFTR": {"S737F": 1, "G1249R(G>A)": 1}}	\N
7475127	7473439	Q359R/R792G	{"CFTR": {"Q359R": 1, "R792G": 1}}	\N
7475128	7473439	R1162L/W1282R	{"CFTR": {"R1162L": 1, "W1282R": 1}}	\N
7475129	7473439	Q1291R/R170H	{"CFTR": {"R170H": 1, "Q1291R": 1}}	\N
7475130	7473439	F311L/G970D	{"CFTR": {"F311L": 1, "G970D": 1}}	\N
7475131	7473439	A455E/V562I	{"CFTR": {"A455E": 1, "V562I": 1}}	\N
7475132	7473439	D110H/G970D	{"CFTR": {"D110H": 1, "G970D": 1}}	\N
7475133	7473439	D110H/D110H	{"CFTR": {"D110H": 2}}	\N
7475134	7473439	I175V/V754M	{"CFTR": {"I175V": 1, "V754M": 1}}	\N
7475135	7473439	L206W/L206W	{"CFTR": {"L206W": 2}}	\N
7475136	7473439	G314E/G576A	{"CFTR": {"G314E": 1, "G576A": 1}}	\N
7475137	7473439	G1349D/H1375P	{"CFTR": {"G1349D": 1, "H1375P": 1}}	\N
7475138	7473439	K1060T/L320V	{"CFTR": {"L320V": 1, "K1060T": 1}}	\N
7475139	7473439	S549R(A>C)/S1251N	{"CFTR": {"S1251N": 1, "S549R(A>C)": 1}}	\N
7475140	7473439	3272-26A->G/G1249R(G>C)	{"CFTR": {"3272-26A->G": 1, "G1249R(G>C)": 1}}	\N
7475141	7473439	H939R/I1027T	{"CFTR": {"H939R": 1, "I1027T": 1}}	\N
7475142	7473439	G576A/W1282R	{"CFTR": {"G576A": 1, "W1282R": 1}}	\N
7475143	7473439	L320V/Q1291R	{"CFTR": {"L320V": 1, "Q1291R": 1}}	\N
7475144	7473439	3849+10kbC->T/Q237E	{"CFTR": {"Q237E": 1, "3849+10kbC->T": 1}}	\N
7475145	7473439	3849+10kbC->T/Q237H	{"CFTR": {"Q237H": 1, "3849+10kbC->T": 1}}	\N
7475146	7473439	A1067T/Q237H	{"CFTR": {"Q237H": 1, "A1067T": 1}}	\N
7475147	7473439	M152V/R1283M	{"CFTR": {"M152V": 1, "R1283M": 1}}	\N
7475148	7473439	G194R(G>A)/R74W	{"CFTR": {"R74W": 1, "G194R(G>A)": 1}}	\N
7475149	7473439	711+3A->G/G551S	{"CFTR": {"G551S": 1, "711+3A->G": 1}}	\N
7475150	7473439	A455E/V1293G	{"CFTR": {"A455E": 1, "V1293G": 1}}	\N
7475151	7473439	G194R(G>C)/Q1291R	{"CFTR": {"Q1291R": 1, "G194R(G>C)": 1}}	\N
7475152	7473439	E822K/E822K	{"CFTR": {"E822K": 2}}	\N
7475153	7473439	G1249R(G>A)/G1349D	{"CFTR": {"G1349D": 1, "G1249R(G>A)": 1}}	\N
7475154	7473439	I148T/V232D	{"CFTR": {"I148T": 1, "V232D": 1}}	\N
7475155	7473439	A1067T/Q237E	{"CFTR": {"Q237E": 1, "A1067T": 1}}	\N
7475156	7473439	E822K/L997F(G>T)	{"CFTR": {"E822K": 1, "L997F(G>T)": 1}}	\N
7475157	7473439	E831X/M952I(G>T)	{"CFTR": {"E831X": 1, "M952I(G>T)": 1}}	\N
7475158	7473439	R1070Q/V1293G	{"CFTR": {"R1070Q": 1, "V1293G": 1}}	\N
7475159	7473439	R117C/S549R(T>G)	{"CFTR": {"R117C": 1, "S549R(T>G)": 1}}	\N
7475160	7473439	A1067T/G194R(G>A)	{"CFTR": {"A1067T": 1, "G194R(G>A)": 1}}	\N
7475161	7473439	D1152H/F311L	{"CFTR": {"F311L": 1, "D1152H": 1}}	\N
7475162	7473439	3849+10kbC->T/M952I(G>A)	{"CFTR": {"M952I(G>A)": 1, "3849+10kbC->T": 1}}	\N
7475163	7473439	711+3A->G/G551D	{"CFTR": {"G551D": 1, "711+3A->G": 1}}	\N
7475164	7473439	G551D/S977F	{"CFTR": {"G551D": 1, "S977F": 1}}	\N
7475165	7473439	I148T/S737F	{"CFTR": {"I148T": 1, "S737F": 1}}	\N
7475166	7473439	G194R(G>C)/M952T	{"CFTR": {"M952T": 1, "G194R(G>C)": 1}}	\N
7475167	7473439	D924N/F508C	{"CFTR": {"D924N": 1, "F508C": 1}}	\N
7475168	7473439	F508C/G1249R(G>A)	{"CFTR": {"F508C": 1, "G1249R(G>A)": 1}}	\N
7475169	7473439	D924N/G178E	{"CFTR": {"D924N": 1, "G178E": 1}}	\N
7475170	7473439	L206W/S945L	{"CFTR": {"L206W": 1, "S945L": 1}}	\N
7475171	7473439	M952T/Y1032C	{"CFTR": {"M952T": 1, "Y1032C": 1}}	\N
7475172	7473439	M952I(G>A)/R347H	{"CFTR": {"R347H": 1, "M952I(G>A)": 1}}	\N
7475173	7473439	D110E/G178E	{"CFTR": {"D110E": 1, "G178E": 1}}	\N
7475174	7473439	D110E/S549N	{"CFTR": {"D110E": 1, "S549N": 1}}	\N
7475175	7473439	D924N/G178R	{"CFTR": {"D924N": 1, "G178R": 1}}	\N
7475176	7473439	F508C,S1251N/P67L	{"CFTR": {"P67L": 1, "F508C,S1251N": 1}}	\N
7475177	7473439	G194R(G>A)/S589N	{"CFTR": {"S589N": 1, "G194R(G>A)": 1}}	\N
7475178	7473439	D110H/F508C	{"CFTR": {"D110H": 1, "F508C": 1}}	\N
7475179	7473439	L997F(G>C)/T1053I	{"CFTR": {"T1053I": 1, "L997F(G>C)": 1}}	\N
7475180	7473439	R75Q/S1251N	{"CFTR": {"R75Q": 1, "S1251N": 1}}	\N
7475181	7473439	S589N/V562I	{"CFTR": {"S589N": 1, "V562I": 1}}	\N
7475182	7473439	D110E/G178R	{"CFTR": {"D110E": 1, "G178R": 1}}	\N
7475183	7473439	D924N/S549N	{"CFTR": {"D924N": 1, "S549N": 1}}	\N
7475184	7473439	3849+10kbC->T/M952I(G>C)	{"CFTR": {"M952I(G>C)": 1, "3849+10kbC->T": 1}}	\N
7475185	7473439	G1349D/P67L	{"CFTR": {"P67L": 1, "G1349D": 1}}	\N
7475186	7473439	D110H/R347L	{"CFTR": {"D110H": 1, "R347L": 1}}	\N
7475187	7473439	P67L/R352Q	{"CFTR": {"P67L": 1, "R352Q": 1}}	\N
7475188	7473439	A455E/L320V	{"CFTR": {"A455E": 1, "L320V": 1}}	\N
7475189	7473439	D110H/R347H	{"CFTR": {"D110H": 1, "R347H": 1}}	\N
7475190	7473439	711+3A->G/A1067T	{"CFTR": {"A1067T": 1, "711+3A->G": 1}}	\N
7475191	7473439	A349V/A455E	{"CFTR": {"A349V": 1, "A455E": 1}}	\N
7475192	7473439	711+3A->G/D924N	{"CFTR": {"D924N": 1, "711+3A->G": 1}}	\N
7475193	7473439	I1027T/R1283M	{"CFTR": {"I1027T": 1, "R1283M": 1}}	\N
7475194	7473439	I807M/S1255P	{"CFTR": {"I807M": 1, "S1255P": 1}}	\N
7475195	7473439	D110E/F508C	{"CFTR": {"D110E": 1, "F508C": 1}}	\N
7475196	7473439	Q1291R/S549R(T>G)	{"CFTR": {"Q1291R": 1, "S549R(T>G)": 1}}	\N
7475197	7473439	R1162L/S549N	{"CFTR": {"S549N": 1, "R1162L": 1}}	\N
7475198	7473439	G1244E/S977F	{"CFTR": {"S977F": 1, "G1244E": 1}}	\N
7475199	7473439	R117H/Y1014C	{"CFTR": {"R117H": 1, "Y1014C": 1}}	\N
7475200	7473439	D579G/V1293G	{"CFTR": {"D579G": 1, "V1293G": 1}}	\N
7475201	7473439	G576A/R170H	{"CFTR": {"G576A": 1, "R170H": 1}}	\N
7475202	7473439	Q237E/Q237H	{"CFTR": {"Q237E": 1, "Q237H": 1}}	\N
7475203	7473439	S1159F/V232D	{"CFTR": {"V232D": 1, "S1159F": 1}}	\N
7475204	7473439	A349V/S737F	{"CFTR": {"A349V": 1, "S737F": 1}}	\N
7475205	7473439	Q359R/S1255P	{"CFTR": {"Q359R": 1, "S1255P": 1}}	\N
7475206	7473439	Q237E/Q237E	{"CFTR": {"Q237E": 2}}	\N
7475207	7473439	Q1291R/T1053I	{"CFTR": {"Q1291R": 1, "T1053I": 1}}	\N
7475208	7473439	G1249R(G>A)/R170H	{"CFTR": {"R170H": 1, "G1249R(G>A)": 1}}	\N
7475209	7473439	A1067T/E831X	{"CFTR": {"E831X": 1, "A1067T": 1}}	\N
7475210	7473439	3272-26A->G/P67L	{"CFTR": {"P67L": 1, "3272-26A->G": 1}}	\N
7475211	7473439	E831X/F311L	{"CFTR": {"E831X": 1, "F311L": 1}}	\N
7475212	7473439	F508C/G1249R(G>C)	{"CFTR": {"F508C": 1, "G1249R(G>C)": 1}}	\N
7475213	7473439	S737F/V562I	{"CFTR": {"S737F": 1, "V562I": 1}}	\N
7475214	7473439	A349V/T1053I	{"CFTR": {"A349V": 1, "T1053I": 1}}	\N
7475215	7473439	A1067T/G1244E	{"CFTR": {"A1067T": 1, "G1244E": 1}}	\N
7475216	7473439	G194R(G>A)/R75Q	{"CFTR": {"R75Q": 1, "G194R(G>A)": 1}}	\N
7475217	7473439	E822K/Q359R	{"CFTR": {"E822K": 1, "Q359R": 1}}	\N
7475218	7473439	F508C/R117L	{"CFTR": {"F508C": 1, "R117L": 1}}	\N
7475219	7473439	G1249R(G>A)/M152V	{"CFTR": {"M152V": 1, "G1249R(G>A)": 1}}	\N
7475220	7473439	D1270N/T1053I	{"CFTR": {"D1270N": 1, "T1053I": 1}}	\N
7475221	7473439	A234D/F508C,S1251N	{"CFTR": {"A234D": 1, "F508C,S1251N": 1}}	\N
7475222	7473439	F508C/R117H	{"CFTR": {"F508C": 1, "R117H": 1}}	\N
7475223	7473439	K1060T/S1255P	{"CFTR": {"K1060T": 1, "S1255P": 1}}	\N
7475224	7473439	F508C/R117G	{"CFTR": {"F508C": 1, "R117G": 1}}	\N
7475225	7473439	F508C/R117C	{"CFTR": {"F508C": 1, "R117C": 1}}	\N
7475226	7473439	D1152H/K1060T	{"CFTR": {"D1152H": 1, "K1060T": 1}}	\N
7475227	7473439	F508C,S1251N/G1249R(G>C)	{"CFTR": {"G1249R(G>C)": 1, "F508C,S1251N": 1}}	\N
7475228	7473439	D924N/V232D	{"CFTR": {"D924N": 1, "V232D": 1}}	\N
7475229	7473439	L967S/Q237E	{"CFTR": {"L967S": 1, "Q237E": 1}}	\N
7475230	7473439	L967S/Q237H	{"CFTR": {"L967S": 1, "Q237H": 1}}	\N
7475231	7473439	G314E/S945L	{"CFTR": {"G314E": 1, "S945L": 1}}	\N
7475232	7473439	A120T/G970D	{"CFTR": {"A120T": 1, "G970D": 1}}	\N
7475233	7473439	A234D/G551D	{"CFTR": {"A234D": 1, "G551D": 1}}	\N
7475234	7473439	D924N/R347L	{"CFTR": {"D924N": 1, "R347L": 1}}	\N
7475235	7473439	A349V/V232D	{"CFTR": {"A349V": 1, "V232D": 1}}	\N
7475236	7473439	D579G/F508C,S1251N	{"CFTR": {"D579G": 1, "F508C,S1251N": 1}}	\N
7475237	7473439	F508C/R117P	{"CFTR": {"F508C": 1, "R117P": 1}}	\N
7475238	7473439	G314E/G314E	{"CFTR": {"G314E": 2}}	\N
7475239	7473439	D924N/R347H	{"CFTR": {"D924N": 1, "R347H": 1}}	\N
7475240	7473439	P67L/R1162L	{"CFTR": {"P67L": 1, "R1162L": 1}}	\N
7475241	7473439	F508C/R553Q	{"CFTR": {"F508C": 1, "R553Q": 1}}	\N
7475242	7473439	L997F(G>C)/L997F(G>T)	{"CFTR": {"L997F(G>C)": 1, "L997F(G>T)": 1}}	\N
7475243	7473439	T338I/T338I	{"CFTR": {"T338I": 2}}	\N
7475244	7473439	A234D/L997F(G>C)	{"CFTR": {"A234D": 1, "L997F(G>C)": 1}}	\N
7475245	7473439	711+3A->G/D1270N	{"CFTR": {"D1270N": 1, "711+3A->G": 1}}	\N
7475246	7473439	E193K/R1283M	{"CFTR": {"E193K": 1, "R1283M": 1}}	\N
7475247	7473439	A234D/G551S	{"CFTR": {"A234D": 1, "G551S": 1}}	\N
7475248	7473439	F311L/R75Q	{"CFTR": {"R75Q": 1, "F311L": 1}}	\N
7475249	7473439	F508C/L320V	{"CFTR": {"F508C": 1, "L320V": 1}}	\N
7475250	7473439	I175V/I1027T	{"CFTR": {"I175V": 1, "I1027T": 1}}	\N
7475251	7473439	R117P/Y1014C	{"CFTR": {"R117P": 1, "Y1014C": 1}}	\N
7475252	7473439	G194R(G>C)/M952I(G>C)	{"CFTR": {"G194R(G>C)": 1, "M952I(G>C)": 1}}	\N
7475253	7473439	D1270N/G178R	{"CFTR": {"G178R": 1, "D1270N": 1}}	\N
7475254	7473439	R117G/R933G	{"CFTR": {"R117G": 1, "R933G": 1}}	\N
7475255	7473439	L967S/S589N	{"CFTR": {"L967S": 1, "S589N": 1}}	\N
7475256	7473439	L320V/M952I(G>A)	{"CFTR": {"L320V": 1, "M952I(G>A)": 1}}	\N
7475257	7473439	D1270N/G178E	{"CFTR": {"G178E": 1, "D1270N": 1}}	\N
7475258	7473439	F311L/R74W	{"CFTR": {"R74W": 1, "F311L": 1}}	\N
7475259	7473439	R75Q/S1255P	{"CFTR": {"R75Q": 1, "S1255P": 1}}	\N
7475260	7473439	E822K/H939R	{"CFTR": {"E822K": 1, "H939R": 1}}	\N
7475261	7473439	I175V/I175V	{"CFTR": {"I175V": 2}}	\N
7475262	7473439	I1139V/T338I	{"CFTR": {"T338I": 1, "I1139V": 1}}	\N
7475263	7473439	G314E/I1027T	{"CFTR": {"G314E": 1, "I1027T": 1}}	\N
7475264	7473439	A120T/D110H	{"CFTR": {"A120T": 1, "D110H": 1}}	\N
7475265	7473439	A120T/D110E	{"CFTR": {"A120T": 1, "D110E": 1}}	\N
7475266	7473439	G1249R(G>C)/R1070Q	{"CFTR": {"R1070Q": 1, "G1249R(G>C)": 1}}	\N
7475267	7473439	L1480P/R1070W	{"CFTR": {"L1480P": 1, "R1070W": 1}}	\N
7475268	7473439	D1152H/D1152H	{"CFTR": {"D1152H": 2}}	\N
7475269	7473439	S737F/W1282R	{"CFTR": {"S737F": 1, "W1282R": 1}}	\N
7475270	7473439	G314E/S549R(A>C)	{"CFTR": {"G314E": 1, "S549R(A>C)": 1}}	\N
7475271	7473439	F508C,S1251N/G1249R(G>A)	{"CFTR": {"G1249R(G>A)": 1, "F508C,S1251N": 1}}	\N
7475272	7473439	G1069R/G1069R	{"CFTR": {"G1069R": 2}}	\N
7475273	7473439	G1249R(G>C)/R1070W	{"CFTR": {"R1070W": 1, "G1249R(G>C)": 1}}	\N
7475274	7473439	E56K/S977F	{"CFTR": {"E56K": 1, "S977F": 1}}	\N
7475275	7473439	G194R(G>C)/S1255P	{"CFTR": {"S1255P": 1, "G194R(G>C)": 1}}	\N
7475276	7473439	R352Q/S1251N	{"CFTR": {"R352Q": 1, "S1251N": 1}}	\N
7475277	7473439	G194R(G>A)/I175V	{"CFTR": {"I175V": 1, "G194R(G>A)": 1}}	\N
7475278	7473439	D110H/S549N	{"CFTR": {"D110H": 1, "S549N": 1}}	\N
7475279	7473439	D579G/S1251N	{"CFTR": {"D579G": 1, "S1251N": 1}}	\N
7475280	7473439	I1139V/M952I(G>T)	{"CFTR": {"I1139V": 1, "M952I(G>T)": 1}}	\N
7475281	7473439	P67L/R792G	{"CFTR": {"P67L": 1, "R792G": 1}}	\N
7475282	7473439	F1052V/S1255P	{"CFTR": {"F1052V": 1, "S1255P": 1}}	\N
7475283	7473439	F508C/V1293G	{"CFTR": {"F508C": 1, "V1293G": 1}}	\N
7475284	7473439	A1067T/G1069R	{"CFTR": {"A1067T": 1, "G1069R": 1}}	\N
7475285	7473439	R117C/R933G	{"CFTR": {"R117C": 1, "R933G": 1}}	\N
7475286	7473439	A1067T/G194R(G>C)	{"CFTR": {"A1067T": 1, "G194R(G>C)": 1}}	\N
7475287	7473439	A1067T/R75Q	{"CFTR": {"R75Q": 1, "A1067T": 1}}	\N
7475288	7473439	D110H/E56K	{"CFTR": {"E56K": 1, "D110H": 1}}	\N
7475289	7473439	G1069R/I175V	{"CFTR": {"I175V": 1, "G1069R": 1}}	\N
7475290	7473439	G194R(G>A)/G1069R	{"CFTR": {"G1069R": 1, "G194R(G>A)": 1}}	\N
7475291	7473439	R117L/Y1014C	{"CFTR": {"R117L": 1, "Y1014C": 1}}	\N
7475292	7473439	Q359R/S1251N	{"CFTR": {"Q359R": 1, "S1251N": 1}}	\N
7475293	7473439	A1067T/R74W	{"CFTR": {"R74W": 1, "A1067T": 1}}	\N
7475294	7473439	G194R(G>A)/Q237H	{"CFTR": {"Q237H": 1, "G194R(G>A)": 1}}	\N
7475295	7473439	G1349D/I1139V	{"CFTR": {"G1349D": 1, "I1139V": 1}}	\N
7475296	7473439	G178R/R933G	{"CFTR": {"G178R": 1, "R933G": 1}}	\N
7475297	7473439	F508C,S1251N/R1070W	{"CFTR": {"R1070W": 1, "F508C,S1251N": 1}}	\N
7475298	7473439	I148T/T1053I	{"CFTR": {"I148T": 1, "T1053I": 1}}	\N
7475299	7473439	G194R(G>A)/Q237E	{"CFTR": {"Q237E": 1, "G194R(G>A)": 1}}	\N
7475300	7473439	H1375P/Q359R	{"CFTR": {"Q359R": 1, "H1375P": 1}}	\N
7475301	7473439	Q237H/S589N	{"CFTR": {"Q237H": 1, "S589N": 1}}	\N
7475302	7473439	3272-26A->G/R347H	{"CFTR": {"R347H": 1, "3272-26A->G": 1}}	\N
7475303	7473439	D192G/R933G	{"CFTR": {"D192G": 1, "R933G": 1}}	\N
7475304	7473439	F508C,S1251N/R1070Q	{"CFTR": {"R1070Q": 1, "F508C,S1251N": 1}}	\N
7475305	7473439	3272-26A->G/R347L	{"CFTR": {"R347L": 1, "3272-26A->G": 1}}	\N
7475306	7473439	G178E/G970D	{"CFTR": {"G178E": 1, "G970D": 1}}	\N
7475307	7473439	A234D/D924N	{"CFTR": {"A234D": 1, "D924N": 1}}	\N
7475308	7473439	L1480P/R1070Q	{"CFTR": {"L1480P": 1, "R1070Q": 1}}	\N
7475309	7473439	R352Q/V1293G	{"CFTR": {"R352Q": 1, "V1293G": 1}}	\N
7475310	7473439	G194R(G>C)/M952I(G>A)	{"CFTR": {"G194R(G>C)": 1, "M952I(G>A)": 1}}	\N
7475311	7473439	D579G/I1139V	{"CFTR": {"D579G": 1, "I1139V": 1}}	\N
7475312	7473439	E822K/R117C	{"CFTR": {"E822K": 1, "R117C": 1}}	\N
7475313	7473439	A1067T/S589N	{"CFTR": {"S589N": 1, "A1067T": 1}}	\N
7475314	7473439	3849+10kbC->T/S945L	{"CFTR": {"S945L": 1, "3849+10kbC->T": 1}}	\N
7475315	7473439	E56K/F508C,S1251N	{"CFTR": {"E56K": 1, "F508C,S1251N": 1}}	\N
7475316	7473439	E822K/R117H	{"CFTR": {"E822K": 1, "R117H": 1}}	\N
7475317	7473439	A234D/A455E	{"CFTR": {"A234D": 1, "A455E": 1}}	\N
7475318	7473439	E822K/R117G	{"CFTR": {"E822K": 1, "R117G": 1}}	\N
7475319	7473439	A455E/W1282R	{"CFTR": {"A455E": 1, "W1282R": 1}}	\N
7475320	7473439	E822K/R117P	{"CFTR": {"E822K": 1, "R117P": 1}}	\N
7475321	7473439	M952I(G>C)/R1283M	{"CFTR": {"R1283M": 1, "M952I(G>C)": 1}}	\N
7475322	7473439	E822K/R117L	{"CFTR": {"E822K": 1, "R117L": 1}}	\N
7475323	7473439	711+3A->G/F311del	{"CFTR": {"F311del": 1, "711+3A->G": 1}}	\N
7475324	7473439	D192G/Y1014C	{"CFTR": {"D192G": 1, "Y1014C": 1}}	\N
7475325	7473439	F311del/S977F	{"CFTR": {"S977F": 1, "F311del": 1}}	\N
7475326	7473439	I1027T/R347L	{"CFTR": {"R347L": 1, "I1027T": 1}}	\N
7475327	7473439	I148T/R347L	{"CFTR": {"I148T": 1, "R347L": 1}}	\N
7475328	7473439	Q1291R/S549N	{"CFTR": {"S549N": 1, "Q1291R": 1}}	\N
7475329	7473439	G194R(G>A)/G194R(G>A)	{"CFTR": {"G194R(G>A)": 2}}	\N
7475330	7473439	D1152H/S589N	{"CFTR": {"S589N": 1, "D1152H": 1}}	\N
7475331	7473439	E822K/R553Q	{"CFTR": {"E822K": 1, "R553Q": 1}}	\N
7475332	7473439	F311L/F508C	{"CFTR": {"F311L": 1, "F508C": 1}}	\N
7475333	7473439	G194R(G>A)/G194R(G>C)	{"CFTR": {"G194R(G>A)": 1, "G194R(G>C)": 1}}	\N
7475334	7473439	711+3A->G/L320V	{"CFTR": {"L320V": 1, "711+3A->G": 1}}	\N
7475335	7473439	E822K/W1282R	{"CFTR": {"E822K": 1, "W1282R": 1}}	\N
7475336	7473439	M952I(G>T)/R1283M	{"CFTR": {"R1283M": 1, "M952I(G>T)": 1}}	\N
7475337	7473439	A234D/T1053I	{"CFTR": {"A234D": 1, "T1053I": 1}}	\N
7475338	7473439	I148T/R347H	{"CFTR": {"I148T": 1, "R347H": 1}}	\N
7475339	7473439	G1249R(G>A)/I148T	{"CFTR": {"I148T": 1, "G1249R(G>A)": 1}}	\N
7475340	7473439	G194R(G>A)/G1244E	{"CFTR": {"G1244E": 1, "G194R(G>A)": 1}}	\N
7475341	7473439	D924N/E56K	{"CFTR": {"E56K": 1, "D924N": 1}}	\N
7475342	7473439	F508C,S1251N/I1027T	{"CFTR": {"I1027T": 1, "F508C,S1251N": 1}}	\N
7475343	7473439	D1270N/R933G	{"CFTR": {"R933G": 1, "D1270N": 1}}	\N
7475344	7473439	E193K/R75Q	{"CFTR": {"R75Q": 1, "E193K": 1}}	\N
7475345	7473439	D110H/D192G	{"CFTR": {"D110H": 1, "D192G": 1}}	\N
7475346	7473439	D110H/T1053I	{"CFTR": {"D110H": 1, "T1053I": 1}}	\N
7475347	7473439	G1349D/S549R(A>C)	{"CFTR": {"G1349D": 1, "S549R(A>C)": 1}}	\N
7475348	7473439	R117C/Y1014C	{"CFTR": {"R117C": 1, "Y1014C": 1}}	\N
7475349	7473439	E193K/R74W	{"CFTR": {"R74W": 1, "E193K": 1}}	\N
7475350	7473439	G576A/G970D	{"CFTR": {"G576A": 1, "G970D": 1}}	\N
7475351	7473439	R668C/R933G	{"CFTR": {"R668C": 1, "R933G": 1}}	\N
7475352	7473439	I1139V/Q359R	{"CFTR": {"Q359R": 1, "I1139V": 1}}	\N
7475353	7473439	K1060T/M952T	{"CFTR": {"M952T": 1, "K1060T": 1}}	\N
7475354	7473439	G1069R/L206W	{"CFTR": {"L206W": 1, "G1069R": 1}}	\N
7475355	7473439	H1375P/R117L	{"CFTR": {"R117L": 1, "H1375P": 1}}	\N
7475356	7473439	H1375P/R117P	{"CFTR": {"R117P": 1, "H1375P": 1}}	\N
7475357	7473439	K1060T/Q1291R	{"CFTR": {"K1060T": 1, "Q1291R": 1}}	\N
7475358	7473439	M952I(G>A)/V232D	{"CFTR": {"V232D": 1, "M952I(G>A)": 1}}	\N
7475359	7473439	I1139V/V1293G	{"CFTR": {"I1139V": 1, "V1293G": 1}}	\N
7475360	7473439	H1375P/R553Q	{"CFTR": {"R553Q": 1, "H1375P": 1}}	\N
7475361	7473439	F508C,S1251N/V754M	{"CFTR": {"V754M": 1, "F508C,S1251N": 1}}	\N
7475362	7473439	L320V/S1255P	{"CFTR": {"L320V": 1, "S1255P": 1}}	\N
7475363	7473439	A120T/R347H	{"CFTR": {"A120T": 1, "R347H": 1}}	\N
7475364	7473439	D1270N/F508C	{"CFTR": {"F508C": 1, "D1270N": 1}}	\N
7475365	7473439	F1052V/S1251N	{"CFTR": {"F1052V": 1, "S1251N": 1}}	\N
7475366	7473439	G970D/L997F(G>T)	{"CFTR": {"G970D": 1, "L997F(G>T)": 1}}	\N
7475367	7473439	F311L/R347H	{"CFTR": {"F311L": 1, "R347H": 1}}	\N
7475368	7473439	G1069R/G1244E	{"CFTR": {"G1069R": 1, "G1244E": 1}}	\N
7475369	7473439	F1074L/S549R(T>G)	{"CFTR": {"F1074L": 1, "S549R(T>G)": 1}}	\N
7475370	7473439	G178R/G178R	{"CFTR": {"G178R": 2}}	\N
7475371	7473439	G194R(G>A)/K1060T	{"CFTR": {"K1060T": 1, "G194R(G>A)": 1}}	\N
7475372	7473439	Q237E/S589N	{"CFTR": {"Q237E": 1, "S589N": 1}}	\N
7475373	7473439	R553Q/V754M	{"CFTR": {"R553Q": 1, "V754M": 1}}	\N
7475374	7473439	F311L/R347L	{"CFTR": {"F311L": 1, "R347L": 1}}	\N
7475375	7473439	S977F/W1282R	{"CFTR": {"S977F": 1, "W1282R": 1}}	\N
7475376	7473439	2789+5G->A/Y1014C	{"CFTR": {"Y1014C": 1, "2789+5G->A": 1}}	\N
7475377	7473439	D579G/M152V	{"CFTR": {"D579G": 1, "M152V": 1}}	\N
7475378	7473439	H1375P/I1027T	{"CFTR": {"H1375P": 1, "I1027T": 1}}	\N
7475379	7473439	3272-26A->G/S549N	{"CFTR": {"S549N": 1, "3272-26A->G": 1}}	\N
7475380	7473439	D192G/L967S	{"CFTR": {"D192G": 1, "L967S": 1}}	\N
7475381	7473439	L997F(G>T)/L997F(G>T)	{"CFTR": {"L997F(G>T)": 2}}	\N
7475382	7473439	P67L/W1282R	{"CFTR": {"P67L": 1, "W1282R": 1}}	\N
7475383	7473439	R117P/S1159F	{"CFTR": {"R117P": 1, "S1159F": 1}}	\N
7475384	7473439	A349V/F508C,S1251N	{"CFTR": {"A349V": 1, "F508C,S1251N": 1}}	\N
7475385	7473439	R117P/S1159P	{"CFTR": {"R117P": 1, "S1159P": 1}}	\N
7475386	7473439	A1067T/L206W	{"CFTR": {"L206W": 1, "A1067T": 1}}	\N
7475387	7473439	R792G/R1283M	{"CFTR": {"R792G": 1, "R1283M": 1}}	\N
7475388	7473439	A120T/R347L	{"CFTR": {"A120T": 1, "R347L": 1}}	\N
7475389	7473439	D110E/T1053I	{"CFTR": {"D110E": 1, "T1053I": 1}}	\N
7475390	7473439	H1375P/R117C	{"CFTR": {"R117C": 1, "H1375P": 1}}	\N
7475391	7473439	S549R(A>C)/Y1014C	{"CFTR": {"Y1014C": 1, "S549R(A>C)": 1}}	\N
7475392	7473439	H1375P/R117G	{"CFTR": {"R117G": 1, "H1375P": 1}}	\N
7475393	7473439	T338I/V1293G	{"CFTR": {"T338I": 1, "V1293G": 1}}	\N
7475394	7473439	G314E/V754M	{"CFTR": {"G314E": 1, "V754M": 1}}	\N
7475395	7473439	3272-26A->G/G970D	{"CFTR": {"G970D": 1, "3272-26A->G": 1}}	\N
7475396	7473439	I807M/M952I(G>A)	{"CFTR": {"I807M": 1, "M952I(G>A)": 1}}	\N
7475397	7473439	H1375P/R117H	{"CFTR": {"R117H": 1, "H1375P": 1}}	\N
7475398	7473439	S589N/V1293G	{"CFTR": {"S589N": 1, "V1293G": 1}}	\N
7475399	7473439	D110E/D192G	{"CFTR": {"D110E": 1, "D192G": 1}}	\N
7475400	7473439	I1139V/R553Q	{"CFTR": {"R553Q": 1, "I1139V": 1}}	\N
7475401	7473439	G1249R(G>A)/I807M	{"CFTR": {"I807M": 1, "G1249R(G>A)": 1}}	\N
7475402	7473439	P67L/P67L	{"CFTR": {"P67L": 2}}	\N
7475403	7473439	I1139V/R117L	{"CFTR": {"R117L": 1, "I1139V": 1}}	\N
7475404	7473439	D1270N/G194R(G>C)	{"CFTR": {"D1270N": 1, "G194R(G>C)": 1}}	\N
7475405	7473439	3272-26A->G/D110E	{"CFTR": {"D110E": 1, "3272-26A->G": 1}}	\N
7475406	7473439	G178E/T1053I	{"CFTR": {"G178E": 1, "T1053I": 1}}	\N
7475407	7473439	A455E/T338I	{"CFTR": {"A455E": 1, "T338I": 1}}	\N
7475408	7473439	G1349D/V754M	{"CFTR": {"V754M": 1, "G1349D": 1}}	\N
7475409	7473439	I1139V/R117P	{"CFTR": {"R117P": 1, "I1139V": 1}}	\N
7475410	7473439	Q1291R/R347L	{"CFTR": {"R347L": 1, "Q1291R": 1}}	\N
7475411	7473439	R1070Q/T338I	{"CFTR": {"T338I": 1, "R1070Q": 1}}	\N
7475412	7473439	R117P/V754M	{"CFTR": {"R117P": 1, "V754M": 1}}	\N
7475413	7473439	G1349D/M952I(G>T)	{"CFTR": {"G1349D": 1, "M952I(G>T)": 1}}	\N
7475414	7473439	F311L/G178R	{"CFTR": {"F311L": 1, "G178R": 1}}	\N
7475415	7473439	A1067T/F1074L	{"CFTR": {"A1067T": 1, "F1074L": 1}}	\N
7475416	7473439	3272-26A->G/D110H	{"CFTR": {"D110H": 1, "3272-26A->G": 1}}	\N
7475417	7473439	Q237E/R75Q	{"CFTR": {"R75Q": 1, "Q237E": 1}}	\N
7475418	7473439	G314E/R1070Q	{"CFTR": {"G314E": 1, "R1070Q": 1}}	\N
7475419	7473439	D1270N/R75Q	{"CFTR": {"R75Q": 1, "D1270N": 1}}	\N
7475420	7473439	D1270N/S549R(T>G)	{"CFTR": {"D1270N": 1, "S549R(T>G)": 1}}	\N
7475421	7473439	H1375P/V754M	{"CFTR": {"V754M": 1, "H1375P": 1}}	\N
7475422	7473439	R170H/Y1014C	{"CFTR": {"R170H": 1, "Y1014C": 1}}	\N
7475423	7473439	G314E/R1070W	{"CFTR": {"G314E": 1, "R1070W": 1}}	\N
7475424	7473439	G314E/S1159P	{"CFTR": {"G314E": 1, "S1159P": 1}}	\N
7475425	7473439	D110H/G178R	{"CFTR": {"D110H": 1, "G178R": 1}}	\N
7475426	7473439	R352Q/V232D	{"CFTR": {"R352Q": 1, "V232D": 1}}	\N
7475427	7473439	D110E/R347H	{"CFTR": {"D110E": 1, "R347H": 1}}	\N
7475428	7473439	G1069R/S589N	{"CFTR": {"S589N": 1, "G1069R": 1}}	\N
7475429	7473439	G314E/S1159F	{"CFTR": {"G314E": 1, "S1159F": 1}}	\N
7475430	7473439	G1249R(G>C)/I1027T	{"CFTR": {"I1027T": 1, "G1249R(G>C)": 1}}	\N
7475431	7473439	G178R/G194R(G>C)	{"CFTR": {"G178R": 1, "G194R(G>C)": 1}}	\N
7475432	7473439	R352Q/S737F	{"CFTR": {"R352Q": 1, "S737F": 1}}	\N
7475433	7473439	S977F/T338I	{"CFTR": {"S977F": 1, "T338I": 1}}	\N
7475434	7473439	I1139V/R117C	{"CFTR": {"R117C": 1, "I1139V": 1}}	\N
7475435	7473439	Q1291R/R347H	{"CFTR": {"R347H": 1, "Q1291R": 1}}	\N
7475436	7473439	F1052V/V232D	{"CFTR": {"V232D": 1, "F1052V": 1}}	\N
7475437	7473439	I1139V/R117H	{"CFTR": {"R117H": 1, "I1139V": 1}}	\N
7475438	7473439	I1139V/R117G	{"CFTR": {"R117G": 1, "I1139V": 1}}	\N
7475439	7473439	S737F/V1293G	{"CFTR": {"S737F": 1, "V1293G": 1}}	\N
7475440	7473439	F508C/H939R	{"CFTR": {"F508C": 1, "H939R": 1}}	\N
7475441	7473439	R553Q/S1159P	{"CFTR": {"R553Q": 1, "S1159P": 1}}	\N
7475442	7473439	D579G/V232D	{"CFTR": {"D579G": 1, "V232D": 1}}	\N
7475443	7473439	R117G/Y1014C	{"CFTR": {"R117G": 1, "Y1014C": 1}}	\N
7475444	7473439	G576A/P67L	{"CFTR": {"P67L": 1, "G576A": 1}}	\N
7475445	7473439	A455E/R1162L	{"CFTR": {"A455E": 1, "R1162L": 1}}	\N
7475446	7473439	E193K/K1060T	{"CFTR": {"E193K": 1, "K1060T": 1}}	\N
7475447	7473439	R553Q/S1159F	{"CFTR": {"R553Q": 1, "S1159F": 1}}	\N
7475448	7473439	D110E/R347L	{"CFTR": {"D110E": 1, "R347L": 1}}	\N
7475449	7473439	Q237E/R74W	{"CFTR": {"R74W": 1, "Q237E": 1}}	\N
7475450	7473439	A455E/R117P	{"CFTR": {"A455E": 1, "R117P": 1}}	\N
7475451	7473439	R1283M/S977F	{"CFTR": {"S977F": 1, "R1283M": 1}}	\N
7475452	7473439	A455E/R553Q	{"CFTR": {"A455E": 1, "R553Q": 1}}	\N
7475453	7473439	F508C,S1251N/S549R(A>C)	{"CFTR": {"S549R(A>C)": 1, "F508C,S1251N": 1}}	\N
7475454	7473439	Q237H/R75Q	{"CFTR": {"R75Q": 1, "Q237H": 1}}	\N
7475455	7473439	A455E/R117H	{"CFTR": {"A455E": 1, "R117H": 1}}	\N
7475456	7473439	A455E/R117G	{"CFTR": {"A455E": 1, "R117G": 1}}	\N
7475457	7473439	D1270N/G194R(G>A)	{"CFTR": {"D1270N": 1, "G194R(G>A)": 1}}	\N
7475458	7473439	I1139V/I1139V	{"CFTR": {"I1139V": 2}}	\N
7475459	7473439	A455E/R117L	{"CFTR": {"A455E": 1, "R117L": 1}}	\N
7475460	7473439	L967S/R75Q	{"CFTR": {"R75Q": 1, "L967S": 1}}	\N
7475461	7473439	G194R(G>A)/L206W	{"CFTR": {"L206W": 1, "G194R(G>A)": 1}}	\N
7475462	7473439	Q237H/R74W	{"CFTR": {"R74W": 1, "Q237H": 1}}	\N
7475463	7473439	G178R/S549R(T>G)	{"CFTR": {"G178R": 1, "S549R(T>G)": 1}}	\N
7475464	7473439	R1283M/Y1014C	{"CFTR": {"R1283M": 1, "Y1014C": 1}}	\N
7475465	7473439	A455E/R117C	{"CFTR": {"A455E": 1, "R117C": 1}}	\N
7475466	7473439	L967S/R74W	{"CFTR": {"R74W": 1, "L967S": 1}}	\N
7475467	7473439	F508C/R1162L	{"CFTR": {"F508C": 1, "R1162L": 1}}	\N
7475468	7473439	D1152H/Q237H	{"CFTR": {"Q237H": 1, "D1152H": 1}}	\N
7475469	7473439	A234D/M952T	{"CFTR": {"A234D": 1, "M952T": 1}}	\N
7475470	7473439	F311L/G178E	{"CFTR": {"F311L": 1, "G178E": 1}}	\N
7475471	7473439	I1027T/R347H	{"CFTR": {"R347H": 1, "I1027T": 1}}	\N
7475472	7473439	711+3A->G/L1480P	{"CFTR": {"L1480P": 1, "711+3A->G": 1}}	\N
7475473	7473439	D1152H/Q237E	{"CFTR": {"Q237E": 1, "D1152H": 1}}	\N
7475474	7473439	M952T/R1162L	{"CFTR": {"M952T": 1, "R1162L": 1}}	\N
7475475	7473439	D110H/G178E	{"CFTR": {"D110H": 1, "G178E": 1}}	\N
7475476	7473439	G178E/L997F(G>C)	{"CFTR": {"G178E": 1, "L997F(G>C)": 1}}	\N
7475477	7473439	D579G/S737F	{"CFTR": {"D579G": 1, "S737F": 1}}	\N
7475478	7473439	F1074L/K1060T	{"CFTR": {"F1074L": 1, "K1060T": 1}}	\N
7475479	7473439	A234D/R1283M	{"CFTR": {"A234D": 1, "R1283M": 1}}	\N
7475480	7473439	L320V/M952T	{"CFTR": {"L320V": 1, "M952T": 1}}	\N
7475481	7473439	F508C/T338I	{"CFTR": {"F508C": 1, "T338I": 1}}	\N
7475482	7473439	H1375P/S549R(A>C)	{"CFTR": {"H1375P": 1, "S549R(A>C)": 1}}	\N
7475483	7473439	H939R/V562I	{"CFTR": {"H939R": 1, "V562I": 1}}	\N
7475484	7473439	E193K/G194R(G>A)	{"CFTR": {"E193K": 1, "G194R(G>A)": 1}}	\N
7475485	7473439	D1270N/R74W	{"CFTR": {"R74W": 1, "D1270N": 1}}	\N
7475486	7473439	F311del/Y1014C	{"CFTR": {"Y1014C": 1, "F311del": 1}}	\N
7475487	7473439	G1249R(G>A)/R352Q	{"CFTR": {"R352Q": 1, "G1249R(G>A)": 1}}	\N
7475488	7473439	A120T/S549N	{"CFTR": {"A120T": 1, "S549N": 1}}	\N
7475489	7473439	D579G/Q359R	{"CFTR": {"D579G": 1, "Q359R": 1}}	\N
7475490	7473439	L997F(G>C)/S1159F	{"CFTR": {"S1159F": 1, "L997F(G>C)": 1}}	\N
7475491	7473439	3849+10kbC->T/I1027T	{"CFTR": {"I1027T": 1, "3849+10kbC->T": 1}}	\N
7475492	7473439	A120T/T1053I	{"CFTR": {"A120T": 1, "T1053I": 1}}	\N
7475493	7473439	R668C/S977F	{"CFTR": {"R668C": 1, "S977F": 1}}	\N
7475494	7473439	3272-26A->G/G1349D	{"CFTR": {"G1349D": 1, "3272-26A->G": 1}}	\N
7475495	7473439	Q237E/S549R(A>C)	{"CFTR": {"Q237E": 1, "S549R(A>C)": 1}}	\N
7475496	7473439	F508C,S1251N/V562I	{"CFTR": {"V562I": 1, "F508C,S1251N": 1}}	\N
7475497	7473439	R117G/S1159F	{"CFTR": {"R117G": 1, "S1159F": 1}}	\N
7475498	7473439	M952I(G>A)/W1282R	{"CFTR": {"W1282R": 1, "M952I(G>A)": 1}}	\N
7475499	7473439	E193K/E193K	{"CFTR": {"E193K": 2}}	\N
7475500	7473439	F311del/R933G	{"CFTR": {"R933G": 1, "F311del": 1}}	\N
7475501	7473439	G576A/I807M	{"CFTR": {"G576A": 1, "I807M": 1}}	\N
7475502	7473439	I175V/L967S	{"CFTR": {"I175V": 1, "L967S": 1}}	\N
7475503	7473439	A1067T/G314E	{"CFTR": {"G314E": 1, "A1067T": 1}}	\N
7475504	7473439	L997F(G>C)/S1159P	{"CFTR": {"S1159P": 1, "L997F(G>C)": 1}}	\N
7475505	7473439	R347L/S1251N	{"CFTR": {"R347L": 1, "S1251N": 1}}	\N
7475506	7473439	L997F(G>C)/R1283M	{"CFTR": {"R1283M": 1, "L997F(G>C)": 1}}	\N
7475507	7473439	R347H/S1255P	{"CFTR": {"R347H": 1, "S1255P": 1}}	\N
7475508	7473439	R117G/S1159P	{"CFTR": {"R117G": 1, "S1159P": 1}}	\N
7475509	7473439	G1249R(G>C)/R75Q	{"CFTR": {"R75Q": 1, "G1249R(G>C)": 1}}	\N
7475510	7473439	G551S/T1053I	{"CFTR": {"G551S": 1, "T1053I": 1}}	\N
7475511	7473439	E822K/H1375P	{"CFTR": {"E822K": 1, "H1375P": 1}}	\N
7475512	7473439	G194R(G>A)/S945L	{"CFTR": {"S945L": 1, "G194R(G>A)": 1}}	\N
7475513	7473439	D1152H/G194R(G>A)	{"CFTR": {"D1152H": 1, "G194R(G>A)": 1}}	\N
7475514	7473439	A234D/I148T	{"CFTR": {"A234D": 1, "I148T": 1}}	\N
7475515	7473439	3272-26A->G/M152V	{"CFTR": {"M152V": 1, "3272-26A->G": 1}}	\N
7475516	7473439	3272-26A->G/S737F	{"CFTR": {"S737F": 1, "3272-26A->G": 1}}	\N
7475517	7473439	R933G/W1282R	{"CFTR": {"R933G": 1, "W1282R": 1}}	\N
7475518	7473439	I1139V/V562I	{"CFTR": {"V562I": 1, "I1139V": 1}}	\N
7475519	7473439	G194R(G>C)/G551S	{"CFTR": {"G551S": 1, "G194R(G>C)": 1}}	\N
7475520	7473439	S549R(T>G)/V232D	{"CFTR": {"V232D": 1, "S549R(T>G)": 1}}	\N
7475521	7473439	2789+5G->A/G576A	{"CFTR": {"G576A": 1, "2789+5G->A": 1}}	\N
7475522	7473439	L1480P/Y1014C	{"CFTR": {"L1480P": 1, "Y1014C": 1}}	\N
7475523	7473439	E193K/G194R(G>C)	{"CFTR": {"E193K": 1, "G194R(G>C)": 1}}	\N
7475524	7473439	D192G/F1074L	{"CFTR": {"D192G": 1, "F1074L": 1}}	\N
7475525	7473439	G178R/Y1032C	{"CFTR": {"G178R": 1, "Y1032C": 1}}	\N
7475526	7473439	P67L/V232D	{"CFTR": {"P67L": 1, "V232D": 1}}	\N
7475527	7473439	G194R(G>C)/G551D	{"CFTR": {"G551D": 1, "G194R(G>C)": 1}}	\N
7475528	7473439	G551S/S977F	{"CFTR": {"G551S": 1, "S977F": 1}}	\N
7475529	7473439	D924N/L997F(G>C)	{"CFTR": {"D924N": 1, "L997F(G>C)": 1}}	\N
7475530	7473439	I148T/R1162L	{"CFTR": {"I148T": 1, "R1162L": 1}}	\N
7475531	7473439	E56K/R1162L	{"CFTR": {"E56K": 1, "R1162L": 1}}	\N
7475532	7473439	L320V/L1480P	{"CFTR": {"L320V": 1, "L1480P": 1}}	\N
7475533	7473439	P67L/S737F	{"CFTR": {"P67L": 1, "S737F": 1}}	\N
7475534	7473439	E831X/L967S	{"CFTR": {"E831X": 1, "L967S": 1}}	\N
7475535	7473439	I148T/L997F(G>C)	{"CFTR": {"I148T": 1, "L997F(G>C)": 1}}	\N
7475536	7473439	D110E/L997F(G>C)	{"CFTR": {"D110E": 1, "L997F(G>C)": 1}}	\N
7475537	7473439	2789+5G->A/A349V	{"CFTR": {"A349V": 1, "2789+5G->A": 1}}	\N
7475538	7473439	3849+10kbC->T/M952I(G>T)	{"CFTR": {"M952I(G>T)": 1, "3849+10kbC->T": 1}}	\N
7475539	7473439	E56K/L997F(G>C)	{"CFTR": {"E56K": 1, "L997F(G>C)": 1}}	\N
7475540	7473439	I807M/Y1014C	{"CFTR": {"I807M": 1, "Y1014C": 1}}	\N
7475541	7473439	G1349D/S945L	{"CFTR": {"S945L": 1, "G1349D": 1}}	\N
7475542	7473439	L967S/S549R(A>C)	{"CFTR": {"L967S": 1, "S549R(A>C)": 1}}	\N
7475543	7473439	G576A/R792G	{"CFTR": {"G576A": 1, "R792G": 1}}	\N
7475544	7473439	I1027T/L997F(G>T)	{"CFTR": {"I1027T": 1, "L997F(G>T)": 1}}	\N
7475545	7473439	G1244E/S1159P	{"CFTR": {"G1244E": 1, "S1159P": 1}}	\N
7475546	7473439	D1152H/G194R(G>C)	{"CFTR": {"D1152H": 1, "G194R(G>C)": 1}}	\N
7475547	7473439	R170H/S1159F	{"CFTR": {"R170H": 1, "S1159F": 1}}	\N
7475548	7473439	S1159P/W1282R	{"CFTR": {"S1159P": 1, "W1282R": 1}}	\N
7475549	7473439	711+3A->G/D579G	{"CFTR": {"D579G": 1, "711+3A->G": 1}}	\N
7475550	7473439	G1069R/V562I	{"CFTR": {"V562I": 1, "G1069R": 1}}	\N
7475551	7473439	G1244E/S1159F	{"CFTR": {"G1244E": 1, "S1159F": 1}}	\N
7475552	7473439	R117H/S1159F	{"CFTR": {"R117H": 1, "S1159F": 1}}	\N
7475553	7473439	R170H/S1159P	{"CFTR": {"R170H": 1, "S1159P": 1}}	\N
7475554	7473439	S549R(T>G)/T1053I	{"CFTR": {"T1053I": 1, "S549R(T>G)": 1}}	\N
7475555	7473439	711+3A->G/P67L	{"CFTR": {"P67L": 1, "711+3A->G": 1}}	\N
7475556	7473439	R117H/S1159P	{"CFTR": {"R117H": 1, "S1159P": 1}}	\N
7475557	7473439	L997F(G>T)/R1283M	{"CFTR": {"R1283M": 1, "L997F(G>T)": 1}}	\N
7475558	7473439	A349V/R352Q	{"CFTR": {"A349V": 1, "R352Q": 1}}	\N
7475559	7473439	A120T/S977F	{"CFTR": {"A120T": 1, "S977F": 1}}	\N
7475560	7473439	S549R(T>G)/S737F	{"CFTR": {"S737F": 1, "S549R(T>G)": 1}}	\N
7475561	7473439	3272-26A->G/V232D	{"CFTR": {"V232D": 1, "3272-26A->G": 1}}	\N
7475562	7473439	K1060T/V562I	{"CFTR": {"V562I": 1, "K1060T": 1}}	\N
7475563	7473439	A1067T/V754M	{"CFTR": {"V754M": 1, "A1067T": 1}}	\N
7475564	7473439	A234D/I807M	{"CFTR": {"A234D": 1, "I807M": 1}}	\N
7475565	7473439	G1069R/Q359R	{"CFTR": {"Q359R": 1, "G1069R": 1}}	\N
7475566	7473439	R74W/R553Q	{"CFTR": {"R74W": 1, "R553Q": 1}}	\N
7475567	7473439	S549R(A>C)/S549R(A>C)	{"CFTR": {"S549R(A>C)": 2}}	\N
7475568	7473439	711+3A->G/M952I(G>A)	{"CFTR": {"711+3A->G": 1, "M952I(G>A)": 1}}	\N
7475569	7473439	A1067T/G576A	{"CFTR": {"G576A": 1, "A1067T": 1}}	\N
7475570	7473439	R74W/R117P	{"CFTR": {"R74W": 1, "R117P": 1}}	\N
7475571	7473439	R347L/S1255P	{"CFTR": {"R347L": 1, "S1255P": 1}}	\N
7475572	7473439	R74W/R117L	{"CFTR": {"R74W": 1, "R117L": 1}}	\N
7475573	7473439	F508C/F508C,S1251N	{"CFTR": {"F508C": 1, "F508C,S1251N": 1}}	\N
7475574	7473439	S549R(T>G)/W1282R	{"CFTR": {"W1282R": 1, "S549R(T>G)": 1}}	\N
7475575	7473439	G576A/I148T	{"CFTR": {"G576A": 1, "I148T": 1}}	\N
7475576	7473439	H1375P/V1293G	{"CFTR": {"H1375P": 1, "V1293G": 1}}	\N
7475577	7473439	R74W/R117C	{"CFTR": {"R74W": 1, "R117C": 1}}	\N
7475578	7473439	D579G/R117C	{"CFTR": {"D579G": 1, "R117C": 1}}	\N
7475579	7473439	D579G/D579G	{"CFTR": {"D579G": 2}}	\N
7475580	7473439	S549R(A>C)/S945L	{"CFTR": {"S945L": 1, "S549R(A>C)": 1}}	\N
7475581	7473439	G194R(G>A)/G576A	{"CFTR": {"G576A": 1, "G194R(G>A)": 1}}	\N
7475582	7473439	I807M/S945L	{"CFTR": {"I807M": 1, "S945L": 1}}	\N
7475583	7473439	D579G/R117G	{"CFTR": {"D579G": 1, "R117G": 1}}	\N
7475584	7473439	I1027T/S549N	{"CFTR": {"S549N": 1, "I1027T": 1}}	\N
7475585	7473439	R74W/R117H	{"CFTR": {"R74W": 1, "R117H": 1}}	\N
7475586	7473439	A234D/R668C	{"CFTR": {"A234D": 1, "R668C": 1}}	\N
7475587	7473439	R74W/R117G	{"CFTR": {"R74W": 1, "R117G": 1}}	\N
7475588	7473439	I175V/V562I	{"CFTR": {"I175V": 1, "V562I": 1}}	\N
7475589	7473439	711+3A->G/H939R	{"CFTR": {"H939R": 1, "711+3A->G": 1}}	\N
7475590	7473439	D579G/R117P	{"CFTR": {"D579G": 1, "R117P": 1}}	\N
7475591	7473439	M152V/S977F	{"CFTR": {"M152V": 1, "S977F": 1}}	\N
7475592	7473439	G1249R(G>A)/L997F(G>C)	{"CFTR": {"L997F(G>C)": 1, "G1249R(G>A)": 1}}	\N
7475593	7473439	D579G/R553Q	{"CFTR": {"D579G": 1, "R553Q": 1}}	\N
7475594	7473439	R347H/S589N	{"CFTR": {"R347H": 1, "S589N": 1}}	\N
7475595	7473439	D579G/R117H	{"CFTR": {"D579G": 1, "R117H": 1}}	\N
7475596	7473439	G194R(G>C)/V1293G	{"CFTR": {"V1293G": 1, "G194R(G>C)": 1}}	\N
7475597	7473439	L967S/S945L	{"CFTR": {"L967S": 1, "S945L": 1}}	\N
7475598	7473439	D1152H/Y1014C	{"CFTR": {"D1152H": 1, "Y1014C": 1}}	\N
7475599	7473439	R553Q/S549R(A>C)	{"CFTR": {"R553Q": 1, "S549R(A>C)": 1}}	\N
7475600	7473439	D579G/R117L	{"CFTR": {"D579G": 1, "R117L": 1}}	\N
7475601	7473439	H939R/V754M	{"CFTR": {"H939R": 1, "V754M": 1}}	\N
7475602	7473439	G1349D/Q237H	{"CFTR": {"Q237H": 1, "G1349D": 1}}	\N
7475603	7473439	F1052V/G551S	{"CFTR": {"G551S": 1, "F1052V": 1}}	\N
7475604	7473439	G1349D/Q237E	{"CFTR": {"Q237E": 1, "G1349D": 1}}	\N
7475605	7473439	L320V/V1293G	{"CFTR": {"L320V": 1, "V1293G": 1}}	\N
7475606	7473439	F508C/G551S	{"CFTR": {"F508C": 1, "G551S": 1}}	\N
7475607	7473439	G1249R(G>A)/R347L	{"CFTR": {"R347L": 1, "G1249R(G>A)": 1}}	\N
7475608	7473439	E822K/G1249R(G>A)	{"CFTR": {"E822K": 1, "G1249R(G>A)": 1}}	\N
7475609	7473439	G1249R(G>A)/R347H	{"CFTR": {"R347H": 1, "G1249R(G>A)": 1}}	\N
7475610	7473439	D1152H/F311del	{"CFTR": {"D1152H": 1, "F311del": 1}}	\N
7475611	7473439	G970D/S1159P	{"CFTR": {"G970D": 1, "S1159P": 1}}	\N
7475612	7473439	A455E/G1249R(G>C)	{"CFTR": {"A455E": 1, "G1249R(G>C)": 1}}	\N
7475613	7473439	L997F(G>T)/S1159F	{"CFTR": {"S1159F": 1, "L997F(G>T)": 1}}	\N
7475614	7473439	711+3A->G/M952I(G>C)	{"CFTR": {"711+3A->G": 1, "M952I(G>C)": 1}}	\N
7475615	7473439	Q237H/S549R(A>C)	{"CFTR": {"Q237H": 1, "S549R(A>C)": 1}}	\N
7475616	7473439	F1052V/G551D	{"CFTR": {"G551D": 1, "F1052V": 1}}	\N
7475617	7473439	F508C/G551D	{"CFTR": {"F508C": 1, "G551D": 1}}	\N
7475618	7473439	G970D/S977F	{"CFTR": {"G970D": 1, "S977F": 1}}	\N
7475619	7473439	M952I(G>A)/S737F	{"CFTR": {"S737F": 1, "M952I(G>A)": 1}}	\N
7475620	7473439	3849+10kbC->T/R1070Q	{"CFTR": {"R1070Q": 1, "3849+10kbC->T": 1}}	\N
7475621	7473439	3849+10kbC->T/R1070W	{"CFTR": {"R1070W": 1, "3849+10kbC->T": 1}}	\N
7475622	7473439	A349V/R792G	{"CFTR": {"A349V": 1, "R792G": 1}}	\N
7475623	7473439	L997F(G>T)/S1159P	{"CFTR": {"S1159P": 1, "L997F(G>T)": 1}}	\N
7475624	7473439	G551D/L997F(G>C)	{"CFTR": {"G551D": 1, "L997F(G>C)": 1}}	\N
7475625	7473439	A349V/R1283M	{"CFTR": {"A349V": 1, "R1283M": 1}}	\N
7475626	7473439	G576A/R352Q	{"CFTR": {"G576A": 1, "R352Q": 1}}	\N
7475627	7473439	A1067T/K1060T	{"CFTR": {"A1067T": 1, "K1060T": 1}}	\N
7475628	7473439	D1152H/E193K	{"CFTR": {"E193K": 1, "D1152H": 1}}	\N
7475629	7473439	R117L/S1159F	{"CFTR": {"R117L": 1, "S1159F": 1}}	\N
7475630	7473439	D110H/L997F(G>C)	{"CFTR": {"D110H": 1, "L997F(G>C)": 1}}	\N
7475631	7473439	G1249R(G>A)/Y1032C	{"CFTR": {"Y1032C": 1, "G1249R(G>A)": 1}}	\N
7475632	7473439	G1249R(G>C)/R74W	{"CFTR": {"R74W": 1, "G1249R(G>C)": 1}}	\N
7475633	7473439	R117L/S1159P	{"CFTR": {"R117L": 1, "S1159P": 1}}	\N
7475634	7473439	R933G/V232D	{"CFTR": {"R933G": 1, "V232D": 1}}	\N
7475635	7473439	A455E/Q1291R	{"CFTR": {"A455E": 1, "Q1291R": 1}}	\N
7475636	7473439	G178E/G178E	{"CFTR": {"G178E": 2}}	\N
7475637	7473439	G178E/G178R	{"CFTR": {"G178E": 1, "G178R": 1}}	\N
7475638	7473439	S945L/V1293G	{"CFTR": {"S945L": 1, "V1293G": 1}}	\N
7475639	7473439	Q237H/S945L	{"CFTR": {"Q237H": 1, "S945L": 1}}	\N
7475640	7473439	R553Q/Y1014C	{"CFTR": {"R553Q": 1, "Y1014C": 1}}	\N
7475641	7473439	I1139V/R1070W	{"CFTR": {"I1139V": 1, "R1070W": 1}}	\N
7475642	7473439	I1139V/R1070Q	{"CFTR": {"I1139V": 1, "R1070Q": 1}}	\N
7475643	7473439	G970D/T1053I	{"CFTR": {"G970D": 1, "T1053I": 1}}	\N
7475644	7473439	G551D/R347L	{"CFTR": {"G551D": 1, "R347L": 1}}	\N
7475645	7473439	S549N/Y1032C	{"CFTR": {"S549N": 1, "Y1032C": 1}}	\N
7475646	7473439	A455E/G1249R(G>A)	{"CFTR": {"A455E": 1, "G1249R(G>A)": 1}}	\N
7475647	7473439	G551D/R347H	{"CFTR": {"G551D": 1, "R347H": 1}}	\N
7475648	7473439	E831X/S549R(T>G)	{"CFTR": {"E831X": 1, "S549R(T>G)": 1}}	\N
7475649	7473439	A1067T/S945L	{"CFTR": {"S945L": 1, "A1067T": 1}}	\N
7475650	7473439	S1159P/V232D	{"CFTR": {"V232D": 1, "S1159P": 1}}	\N
7475651	7473439	L967S/Y1014C	{"CFTR": {"L967S": 1, "Y1014C": 1}}	\N
7475652	7473439	A234D/M152V	{"CFTR": {"A234D": 1, "M152V": 1}}	\N
7475653	7473439	R1070W/V232D	{"CFTR": {"V232D": 1, "R1070W": 1}}	\N
7475654	7473439	H939R/S549R(A>C)	{"CFTR": {"H939R": 1, "S549R(A>C)": 1}}	\N
7475655	7473439	3272-26A->G/I148T	{"CFTR": {"I148T": 1, "3272-26A->G": 1}}	\N
7475656	7473439	F508C,S1251N/M952I(G>A)	{"CFTR": {"M952I(G>A)": 1, "F508C,S1251N": 1}}	\N
7475657	7473439	D110H/S737F	{"CFTR": {"D110H": 1, "S737F": 1}}	\N
7475658	7473439	Q237H/Y1014C	{"CFTR": {"Q237H": 1, "Y1014C": 1}}	\N
7475659	7473439	G194R(G>A)/G314E	{"CFTR": {"G314E": 1, "G194R(G>A)": 1}}	\N
7475660	7473439	G1244E/K1060T	{"CFTR": {"G1244E": 1, "K1060T": 1}}	\N
7475661	7473439	711+3A->G/V1293G	{"CFTR": {"V1293G": 1, "711+3A->G": 1}}	\N
7475662	7473439	A234D/S737F	{"CFTR": {"A234D": 1, "S737F": 1}}	\N
7475663	7473439	D1152H/S945L	{"CFTR": {"S945L": 1, "D1152H": 1}}	\N
7475664	7473439	S549R(A>C)/V754M	{"CFTR": {"V754M": 1, "S549R(A>C)": 1}}	\N
7475665	7473439	G314E/L967S	{"CFTR": {"G314E": 1, "L967S": 1}}	\N
7475666	7473439	G551D/W1282R	{"CFTR": {"G551D": 1, "W1282R": 1}}	\N
7475667	7473439	R933G/S737F	{"CFTR": {"R933G": 1, "S737F": 1}}	\N
7475668	7473439	A349V/G970D	{"CFTR": {"A349V": 1, "G970D": 1}}	\N
7475669	7473439	R933G/T1053I	{"CFTR": {"R933G": 1, "T1053I": 1}}	\N
7475670	7473439	G1249R(G>C)/Y1014C	{"CFTR": {"Y1014C": 1, "G1249R(G>C)": 1}}	\N
7475671	7473439	2789+5G->A/D1152H	{"CFTR": {"D1152H": 1, "2789+5G->A": 1}}	\N
7475672	7473439	R1070W/S737F	{"CFTR": {"S737F": 1, "R1070W": 1}}	\N
7475673	7473439	D924N/G1349D	{"CFTR": {"D924N": 1, "G1349D": 1}}	\N
7475674	7473439	D579G/P67L	{"CFTR": {"P67L": 1, "D579G": 1}}	\N
7475675	7473439	L320V/L320V	{"CFTR": {"L320V": 2}}	\N
7475676	7473439	711+3A->G/D1152H	{"CFTR": {"D1152H": 1, "711+3A->G": 1}}	\N
7475677	7473439	D110H/M152V	{"CFTR": {"D110H": 1, "M152V": 1}}	\N
7475678	7473439	D110E/E56K	{"CFTR": {"E56K": 1, "D110E": 1}}	\N
7475679	7473439	E831X/F1074L	{"CFTR": {"E831X": 1, "F1074L": 1}}	\N
7475680	7473439	2789+5G->A/V754M	{"CFTR": {"V754M": 1, "2789+5G->A": 1}}	\N
7475681	7473439	G194R(G>A)/Y1014C	{"CFTR": {"Y1014C": 1, "G194R(G>A)": 1}}	\N
7475682	7473439	R668C/S549R(T>G)	{"CFTR": {"R668C": 1, "S549R(T>G)": 1}}	\N
7475683	7473439	3849+10kbC->T/S549R(T>G)	{"CFTR": {"S549R(T>G)": 1, "3849+10kbC->T": 1}}	\N
7475684	7473439	H1375P/M952I(G>A)	{"CFTR": {"H1375P": 1, "M952I(G>A)": 1}}	\N
7475685	7473439	I807M/K1060T	{"CFTR": {"I807M": 1, "K1060T": 1}}	\N
7475686	7473439	A349V/D110H	{"CFTR": {"A349V": 1, "D110H": 1}}	\N
7475687	7473439	G1249R(G>A)/S549N	{"CFTR": {"S549N": 1, "G1249R(G>A)": 1}}	\N
7475688	7473439	G970D/R1283M	{"CFTR": {"G970D": 1, "R1283M": 1}}	\N
7475689	7473439	Q237E/S945L	{"CFTR": {"Q237E": 1, "S945L": 1}}	\N
7475690	7473439	A349V/D110E	{"CFTR": {"A349V": 1, "D110E": 1}}	\N
7475691	7473439	R1162L/R1283M	{"CFTR": {"R1162L": 1, "R1283M": 1}}	\N
7475692	7473439	F508C,S1251N/M952I(G>C)	{"CFTR": {"M952I(G>C)": 1, "F508C,S1251N": 1}}	\N
7475693	7473439	G576A/M152V	{"CFTR": {"G576A": 1, "M152V": 1}}	\N
7475694	7473439	M952I(G>A)/R668C	{"CFTR": {"R668C": 1, "M952I(G>A)": 1}}	\N
7475695	7473439	G576A/R668C	{"CFTR": {"G576A": 1, "R668C": 1}}	\N
7475696	7473439	D924N/T1053I	{"CFTR": {"D924N": 1, "T1053I": 1}}	\N
7475697	7473439	D924N/S737F	{"CFTR": {"D924N": 1, "S737F": 1}}	\N
7475698	7473439	I148T/S549N	{"CFTR": {"I148T": 1, "S549N": 1}}	\N
7475699	7473439	H1375P/M952I(G>C)	{"CFTR": {"H1375P": 1, "M952I(G>C)": 1}}	\N
7475700	7473439	I807M/R75Q	{"CFTR": {"R75Q": 1, "I807M": 1}}	\N
7475701	7473439	E56K/S549N	{"CFTR": {"E56K": 1, "S549N": 1}}	\N
7475702	7473439	D1152H/R75Q	{"CFTR": {"R75Q": 1, "D1152H": 1}}	\N
7475703	7473439	F508C/L1480P	{"CFTR": {"F508C": 1, "L1480P": 1}}	\N
7475704	7473439	D1152H/R74W	{"CFTR": {"R74W": 1, "D1152H": 1}}	\N
7475705	7473439	711+3A->G/E822K	{"CFTR": {"E822K": 1, "711+3A->G": 1}}	\N
7475706	7473439	D110E/S737F	{"CFTR": {"D110E": 1, "S737F": 1}}	\N
7475707	7473439	G194R(G>C)/L320V	{"CFTR": {"L320V": 1, "G194R(G>C)": 1}}	\N
7475708	7473439	D1270N/Y1032C	{"CFTR": {"D1270N": 1, "Y1032C": 1}}	\N
7475709	7473439	711+3A->G/T338I	{"CFTR": {"T338I": 1, "711+3A->G": 1}}	\N
7475710	7473439	711+3A->G/Q359R	{"CFTR": {"Q359R": 1, "711+3A->G": 1}}	\N
7475711	7473439	3272-26A->G/I807M	{"CFTR": {"I807M": 1, "3272-26A->G": 1}}	\N
7475712	7473439	A455E/L1480P	{"CFTR": {"A455E": 1, "L1480P": 1}}	\N
7475713	7473439	R792G/S977F	{"CFTR": {"R792G": 1, "S977F": 1}}	\N
7475714	7473439	I175V/R1070W	{"CFTR": {"I175V": 1, "R1070W": 1}}	\N
7475715	7473439	D192G/K1060T	{"CFTR": {"D192G": 1, "K1060T": 1}}	\N
7475716	7473439	I175V/R1070Q	{"CFTR": {"I175V": 1, "R1070Q": 1}}	\N
7475717	7473439	R352Q/R553Q	{"CFTR": {"R352Q": 1, "R553Q": 1}}	\N
7475718	7473439	R117C/S1159F	{"CFTR": {"R117C": 1, "S1159F": 1}}	\N
7475719	7473439	I807M/R74W	{"CFTR": {"R74W": 1, "I807M": 1}}	\N
7475720	7473439	V562I/Y1032C	{"CFTR": {"V562I": 1, "Y1032C": 1}}	\N
7475721	7473439	711+3A->G/F1052V	{"CFTR": {"F1052V": 1, "711+3A->G": 1}}	\N
7475722	7473439	M952I(G>C)/S977F	{"CFTR": {"S977F": 1, "M952I(G>C)": 1}}	\N
7475723	7473439	3272-26A->G/W1282R	{"CFTR": {"W1282R": 1, "3272-26A->G": 1}}	\N
7475724	7473439	R347H/S1251N	{"CFTR": {"R347H": 1, "S1251N": 1}}	\N
7475725	7473439	S1251N/T338I	{"CFTR": {"T338I": 1, "S1251N": 1}}	\N
7475726	7473439	F1052V/M952T	{"CFTR": {"M952T": 1, "F1052V": 1}}	\N
7475727	7473439	R117C/S1159P	{"CFTR": {"R117C": 1, "S1159P": 1}}	\N
7475728	7473439	2789+5G->A/G1244E	{"CFTR": {"G1244E": 1, "2789+5G->A": 1}}	\N
7475729	7473439	2789+5G->A/E831X	{"CFTR": {"E831X": 1, "2789+5G->A": 1}}	\N
7475730	7473439	R1162L/S1159F	{"CFTR": {"R1162L": 1, "S1159F": 1}}	\N
7475731	7473439	D924N/M152V	{"CFTR": {"D924N": 1, "M152V": 1}}	\N
7475732	7473439	E831X/I1027T	{"CFTR": {"E831X": 1, "I1027T": 1}}	\N
7475733	7473439	F311L/S977F	{"CFTR": {"F311L": 1, "S977F": 1}}	\N
7475734	7473439	G551D/R1162L	{"CFTR": {"G551D": 1, "R1162L": 1}}	\N
7475735	7473439	R1162L/S1159P	{"CFTR": {"R1162L": 1, "S1159P": 1}}	\N
7475736	7473439	M952I(G>T)/S977F	{"CFTR": {"S977F": 1, "M952I(G>T)": 1}}	\N
7475737	7473439	R74W/T338I	{"CFTR": {"R74W": 1, "T338I": 1}}	\N
7475738	7473439	T1053I/W1282R	{"CFTR": {"T1053I": 1, "W1282R": 1}}	\N
7475739	7473439	R1070Q/V232D	{"CFTR": {"V232D": 1, "R1070Q": 1}}	\N
7475740	7473439	A234D/D110E	{"CFTR": {"A234D": 1, "D110E": 1}}	\N
7475741	7473439	I1027T/R170H	{"CFTR": {"R170H": 1, "I1027T": 1}}	\N
7475742	7473439	L1480P/S549R(A>C)	{"CFTR": {"L1480P": 1, "S549R(A>C)": 1}}	\N
7475743	7473439	D579G/E822K	{"CFTR": {"D579G": 1, "E822K": 1}}	\N
7475744	7473439	A234D/D110H	{"CFTR": {"A234D": 1, "D110H": 1}}	\N
7475745	7473439	F1052V/T338I	{"CFTR": {"T338I": 1, "F1052V": 1}}	\N
7475746	7473439	L206W/S549R(A>C)	{"CFTR": {"L206W": 1, "S549R(A>C)": 1}}	\N
7475747	7473439	D110E/V232D	{"CFTR": {"D110E": 1, "V232D": 1}}	\N
7475748	7473439	D579G/T338I	{"CFTR": {"D579G": 1, "T338I": 1}}	\N
7475749	7473439	S977F/V232D	{"CFTR": {"S977F": 1, "V232D": 1}}	\N
7475750	7473439	A455E/F508C,S1251N	{"CFTR": {"A455E": 1, "F508C,S1251N": 1}}	\N
7475751	7473439	E193K/Y1032C	{"CFTR": {"E193K": 1, "Y1032C": 1}}	\N
7475752	7473439	G576A/G1349D	{"CFTR": {"G576A": 1, "G1349D": 1}}	\N
7475753	7473439	F311del/R74W	{"CFTR": {"R74W": 1, "F311del": 1}}	\N
7475754	7473439	Q237H/Q237H	{"CFTR": {"Q237H": 2}}	\N
7475755	7473439	I1139V/S1251N	{"CFTR": {"I1139V": 1, "S1251N": 1}}	\N
7475756	7473439	E56K/G1349D	{"CFTR": {"E56K": 1, "G1349D": 1}}	\N
7475757	7473439	G194R(G>C)/L1480P	{"CFTR": {"L1480P": 1, "G194R(G>C)": 1}}	\N
7475758	7473439	D110H/V232D	{"CFTR": {"D110H": 1, "V232D": 1}}	\N
7475759	7473439	2789+5G->A/S549R(A>C)	{"CFTR": {"2789+5G->A": 1, "S549R(A>C)": 1}}	\N
7475760	7473439	I175V/M952I(G>T)	{"CFTR": {"I175V": 1, "M952I(G>T)": 1}}	\N
7475761	7473439	A234D/V232D	{"CFTR": {"A234D": 1, "V232D": 1}}	\N
7475762	7473439	R347L/V562I	{"CFTR": {"R347L": 1, "V562I": 1}}	\N
7475763	7473439	F311del/R75Q	{"CFTR": {"R75Q": 1, "F311del": 1}}	\N
7475764	7473439	D579G/H939R	{"CFTR": {"D579G": 1, "H939R": 1}}	\N
7475765	7473439	L997F(G>T)/T1053I	{"CFTR": {"T1053I": 1, "L997F(G>T)": 1}}	\N
7475766	7473439	M952T/R170H	{"CFTR": {"M952T": 1, "R170H": 1}}	\N
7475767	7473439	F311del/S549R(T>G)	{"CFTR": {"F311del": 1, "S549R(T>G)": 1}}	\N
7475768	7473439	L206W/V754M	{"CFTR": {"L206W": 1, "V754M": 1}}	\N
7475769	7473439	K1060T/P67L	{"CFTR": {"P67L": 1, "K1060T": 1}}	\N
7475770	7473439	R352Q/T338I	{"CFTR": {"R352Q": 1, "T338I": 1}}	\N
7475771	7473439	E56K/R347H	{"CFTR": {"E56K": 1, "R347H": 1}}	\N
7475772	7473439	711+3A->G/R117H	{"CFTR": {"R117H": 1, "711+3A->G": 1}}	\N
7475773	7473439	S1255P/T1053I	{"CFTR": {"S1255P": 1, "T1053I": 1}}	\N
7475774	7473439	E56K/R347L	{"CFTR": {"E56K": 1, "R347L": 1}}	\N
7475775	7473439	711+3A->G/R117L	{"CFTR": {"R117L": 1, "711+3A->G": 1}}	\N
7475776	7473439	D924N/R668C	{"CFTR": {"D924N": 1, "R668C": 1}}	\N
7475777	7473439	711+3A->G/R117P	{"CFTR": {"R117P": 1, "711+3A->G": 1}}	\N
7475778	7473439	M952I(G>A)/T1053I	{"CFTR": {"T1053I": 1, "M952I(G>A)": 1}}	\N
7475779	7473439	H1375P/S945L	{"CFTR": {"S945L": 1, "H1375P": 1}}	\N
7475780	7473439	D192G/S1159F	{"CFTR": {"D192G": 1, "S1159F": 1}}	\N
7475781	7473439	711+3A->G/R553Q	{"CFTR": {"R553Q": 1, "711+3A->G": 1}}	\N
7475782	7473439	A234D/G970D	{"CFTR": {"A234D": 1, "G970D": 1}}	\N
7475783	7473439	A349V/R668C	{"CFTR": {"A349V": 1, "R668C": 1}}	\N
7475784	7473439	D192G/S549R(T>G)	{"CFTR": {"D192G": 1, "S549R(T>G)": 1}}	\N
7475785	7473439	Q237E/Y1014C	{"CFTR": {"Q237E": 1, "Y1014C": 1}}	\N
7475786	7473439	A349V/M152V	{"CFTR": {"A349V": 1, "M152V": 1}}	\N
7475787	7473439	R1283M/S549R(T>G)	{"CFTR": {"R1283M": 1, "S549R(T>G)": 1}}	\N
7475788	7473439	K1060T/S1251N	{"CFTR": {"K1060T": 1, "S1251N": 1}}	\N
7475789	7473439	711+3A->G/R117C	{"CFTR": {"R117C": 1, "711+3A->G": 1}}	\N
7475790	7473439	D192G/S1159P	{"CFTR": {"D192G": 1, "S1159P": 1}}	\N
7475791	7473439	711+3A->G/R117G	{"CFTR": {"R117G": 1, "711+3A->G": 1}}	\N
7475792	7473439	P67L/R668C	{"CFTR": {"P67L": 1, "R668C": 1}}	\N
7475793	7473439	R1070Q/S737F	{"CFTR": {"S737F": 1, "R1070Q": 1}}	\N
7475794	7473439	D1152H/R1070W	{"CFTR": {"D1152H": 1, "R1070W": 1}}	\N
7475795	7473439	G194R(G>C)/R553Q	{"CFTR": {"R553Q": 1, "G194R(G>C)": 1}}	\N
7475796	7473439	L320V/R117H	{"CFTR": {"L320V": 1, "R117H": 1}}	\N
7475797	7473439	M952T/R347L	{"CFTR": {"M952T": 1, "R347L": 1}}	\N
7475798	7473439	G194R(G>C)/R117P	{"CFTR": {"R117P": 1, "G194R(G>C)": 1}}	\N
7475799	7473439	L320V/R117G	{"CFTR": {"L320V": 1, "R117G": 1}}	\N
7475800	7473439	D1152H/R1070Q	{"CFTR": {"D1152H": 1, "R1070Q": 1}}	\N
7475801	7473439	F311del/F1074L	{"CFTR": {"F1074L": 1, "F311del": 1}}	\N
7475802	7473439	L320V/R117L	{"CFTR": {"L320V": 1, "R117L": 1}}	\N
7475803	7473439	M952T/R347H	{"CFTR": {"M952T": 1, "R347H": 1}}	\N
7475804	7473439	G194R(G>C)/R117L	{"CFTR": {"R117L": 1, "G194R(G>C)": 1}}	\N
7475805	7473439	G314E/R933G	{"CFTR": {"G314E": 1, "R933G": 1}}	\N
7475806	7473439	M152V/S1159F	{"CFTR": {"M152V": 1, "S1159F": 1}}	\N
7475807	7473439	S1251N/S1251N	{"CFTR": {"S1251N": 2}}	\N
7475808	7473439	L320V/R117P	{"CFTR": {"L320V": 1, "R117P": 1}}	\N
7475809	7473439	G194R(G>C)/G1249R(G>C)	{"CFTR": {"G194R(G>C)": 1, "G1249R(G>C)": 1}}	\N
7475810	7473439	G194R(G>C)/R117C	{"CFTR": {"R117C": 1, "G194R(G>C)": 1}}	\N
7475811	7473439	K1060T/T338I	{"CFTR": {"T338I": 1, "K1060T": 1}}	\N
7475812	7473439	E56K/T1053I	{"CFTR": {"E56K": 1, "T1053I": 1}}	\N
7475813	7473439	3272-26A->G/R1162L	{"CFTR": {"R1162L": 1, "3272-26A->G": 1}}	\N
7475814	7473439	F311L/S1159F	{"CFTR": {"F311L": 1, "S1159F": 1}}	\N
7475815	7473439	G1069R/L320V	{"CFTR": {"L320V": 1, "G1069R": 1}}	\N
7475816	7473439	G551D/L997F(G>T)	{"CFTR": {"G551D": 1, "L997F(G>T)": 1}}	\N
7475817	7473439	G194R(G>C)/R117H	{"CFTR": {"R117H": 1, "G194R(G>C)": 1}}	\N
7475818	7473439	G1249R(G>C)/S549R(T>G)	{"CFTR": {"S549R(T>G)": 1, "G1249R(G>C)": 1}}	\N
7475819	7473439	G194R(G>C)/R117G	{"CFTR": {"R117G": 1, "G194R(G>C)": 1}}	\N
7475820	7473439	I1139V/S589N	{"CFTR": {"S589N": 1, "I1139V": 1}}	\N
7475821	7473439	F508C,S1251N/S589N	{"CFTR": {"S589N": 1, "F508C,S1251N": 1}}	\N
7475822	7473439	F311L/S1159P	{"CFTR": {"F311L": 1, "S1159P": 1}}	\N
7475823	7473439	L320V/R117C	{"CFTR": {"L320V": 1, "R117C": 1}}	\N
7475824	7473439	3272-26A->G/R352Q	{"CFTR": {"R352Q": 1, "3272-26A->G": 1}}	\N
7475825	7473439	E193K/F311L	{"CFTR": {"E193K": 1, "F311L": 1}}	\N
7475826	7473439	D1152H/I1027T	{"CFTR": {"D1152H": 1, "I1027T": 1}}	\N
7475827	7473439	G1349D/S1255P	{"CFTR": {"G1349D": 1, "S1255P": 1}}	\N
7475828	7473439	H939R/S945L	{"CFTR": {"H939R": 1, "S945L": 1}}	\N
7475829	7473439	G551D/T1053I	{"CFTR": {"G551D": 1, "T1053I": 1}}	\N
7475830	7473439	L206W/S549R(T>G)	{"CFTR": {"L206W": 1, "S549R(T>G)": 1}}	\N
7475831	7473439	R74W/V562I	{"CFTR": {"R74W": 1, "V562I": 1}}	\N
7475832	7473439	I1027T/R352Q	{"CFTR": {"R352Q": 1, "I1027T": 1}}	\N
7475833	7473439	3849+10kbC->T/G194R(G>A)	{"CFTR": {"G194R(G>A)": 1, "3849+10kbC->T": 1}}	\N
7475834	7473439	M152V/S1159P	{"CFTR": {"M152V": 1, "S1159P": 1}}	\N
7475835	7473439	F1052V/P67L	{"CFTR": {"P67L": 1, "F1052V": 1}}	\N
7475836	7473439	S1251N/V1293G	{"CFTR": {"S1251N": 1, "V1293G": 1}}	\N
7475837	7473439	G178E/S1159P	{"CFTR": {"G178E": 1, "S1159P": 1}}	\N
7475838	7473439	R347H/V562I	{"CFTR": {"R347H": 1, "V562I": 1}}	\N
7475839	7473439	S549N/S1159P	{"CFTR": {"S549N": 1, "S1159P": 1}}	\N
7475840	7473439	E56K/L997F(G>T)	{"CFTR": {"E56K": 1, "L997F(G>T)": 1}}	\N
7475841	7473439	G314E/S549R(T>G)	{"CFTR": {"G314E": 1, "S549R(T>G)": 1}}	\N
7475842	7473439	M952I(G>C)/Y1032C	{"CFTR": {"Y1032C": 1, "M952I(G>C)": 1}}	\N
7475843	7473439	G194R(G>C)/H939R	{"CFTR": {"H939R": 1, "G194R(G>C)": 1}}	\N
7475844	7473439	I1139V/S1255P	{"CFTR": {"I1139V": 1, "S1255P": 1}}	\N
7475845	7473439	3849+10kbC->T/E193K	{"CFTR": {"E193K": 1, "3849+10kbC->T": 1}}	\N
7475846	7473439	I1027T/R1162L	{"CFTR": {"I1027T": 1, "R1162L": 1}}	\N
7475847	7473439	G1249R(G>C)/R933G	{"CFTR": {"R933G": 1, "G1249R(G>C)": 1}}	\N
7475848	7473439	3272-26A->G/R792G	{"CFTR": {"R792G": 1, "3272-26A->G": 1}}	\N
7475849	7473439	D924N/I148T	{"CFTR": {"D924N": 1, "I148T": 1}}	\N
7475850	7473439	F508C,S1251N/I175V	{"CFTR": {"I175V": 1, "F508C,S1251N": 1}}	\N
7475851	7473439	S549N/S1159F	{"CFTR": {"S549N": 1, "S1159F": 1}}	\N
7475852	7473439	I148T/L997F(G>T)	{"CFTR": {"I148T": 1, "L997F(G>T)": 1}}	\N
7475853	7473439	A349V/G1349D	{"CFTR": {"A349V": 1, "G1349D": 1}}	\N
7475854	7473439	D579G/D1270N	{"CFTR": {"D579G": 1, "D1270N": 1}}	\N
7475855	7473439	H1375P/V562I	{"CFTR": {"V562I": 1, "H1375P": 1}}	\N
7475856	7473439	D110E/I148T	{"CFTR": {"D110E": 1, "I148T": 1}}	\N
7475857	7473439	A455E/H1375P	{"CFTR": {"A455E": 1, "H1375P": 1}}	\N
7475858	7473439	G1349D/S589N	{"CFTR": {"S589N": 1, "G1349D": 1}}	\N
7475859	7473439	F508C,S1251N/L206W	{"CFTR": {"L206W": 1, "F508C,S1251N": 1}}	\N
7475860	7473439	A120T/S1159F	{"CFTR": {"A120T": 1, "S1159F": 1}}	\N
7475861	7473439	3849+10kbC->T/F1074L	{"CFTR": {"F1074L": 1, "3849+10kbC->T": 1}}	\N
7475862	7473439	I148T/R668C	{"CFTR": {"I148T": 1, "R668C": 1}}	\N
7475863	7473439	L320V/R553Q	{"CFTR": {"L320V": 1, "R553Q": 1}}	\N
7475864	7473439	A349V/W1282R	{"CFTR": {"A349V": 1, "W1282R": 1}}	\N
7475865	7473439	A120T/S1159P	{"CFTR": {"A120T": 1, "S1159P": 1}}	\N
7475866	7473439	I175V/S589N	{"CFTR": {"I175V": 1, "S589N": 1}}	\N
7475867	7473439	3272-26A->G/E56K	{"CFTR": {"E56K": 1, "3272-26A->G": 1}}	\N
7475868	7473439	G178E/S1159F	{"CFTR": {"G178E": 1, "S1159F": 1}}	\N
7475869	7473439	M952I(G>A)/R792G	{"CFTR": {"R792G": 1, "M952I(G>A)": 1}}	\N
7475870	7473439	S1251N/S1255P	{"CFTR": {"S1251N": 1, "S1255P": 1}}	\N
7475871	7473439	F1074L/Y1032C	{"CFTR": {"F1074L": 1, "Y1032C": 1}}	\N
7475872	7473439	I148T/M152V	{"CFTR": {"I148T": 1, "M152V": 1}}	\N
7475873	7473439	D579G/D924N	{"CFTR": {"D579G": 1, "D924N": 1}}	\N
7475874	7473439	F1052V/H1375P	{"CFTR": {"F1052V": 1, "H1375P": 1}}	\N
7475875	7473439	L206W/L967S	{"CFTR": {"L206W": 1, "L967S": 1}}	\N
7475876	7473439	D110H/I807M	{"CFTR": {"D110H": 1, "I807M": 1}}	\N
7475877	7473439	D110H/R668C	{"CFTR": {"D110H": 1, "R668C": 1}}	\N
7475878	7473439	L320V/P67L	{"CFTR": {"P67L": 1, "L320V": 1}}	\N
7475879	7473439	L997F(G>C)/S977F	{"CFTR": {"S977F": 1, "L997F(G>C)": 1}}	\N
7475880	7473439	2789+5G->A/M952I(G>A)	{"CFTR": {"2789+5G->A": 1, "M952I(G>A)": 1}}	\N
7475881	7473439	M952I(G>A)/R1162L	{"CFTR": {"R1162L": 1, "M952I(G>A)": 1}}	\N
7475882	7473439	G551D/S549N	{"CFTR": {"G551D": 1, "S549N": 1}}	\N
7475883	7473439	M952I(G>T)/Y1032C	{"CFTR": {"Y1032C": 1, "M952I(G>T)": 1}}	\N
7475884	7473439	D110E/M152V	{"CFTR": {"D110E": 1, "M152V": 1}}	\N
7475885	7473439	2789+5G->A/Q237E	{"CFTR": {"Q237E": 1, "2789+5G->A": 1}}	\N
7475886	7473439	2789+5G->A/Q237H	{"CFTR": {"Q237H": 1, "2789+5G->A": 1}}	\N
7475887	7473439	G194R(G>C)/Q359R	{"CFTR": {"Q359R": 1, "G194R(G>C)": 1}}	\N
7475888	7473439	L320V/Q359R	{"CFTR": {"L320V": 1, "Q359R": 1}}	\N
7475889	7473439	G1349D/S1251N	{"CFTR": {"G1349D": 1, "S1251N": 1}}	\N
7475890	7473439	H939R/M952I(G>C)	{"CFTR": {"H939R": 1, "M952I(G>C)": 1}}	\N
7475891	7473439	I807M/V754M	{"CFTR": {"I807M": 1, "V754M": 1}}	\N
7475892	7473439	Q1291R/S977F	{"CFTR": {"S977F": 1, "Q1291R": 1}}	\N
7475893	7473439	G194R(G>C)/P67L	{"CFTR": {"P67L": 1, "G194R(G>C)": 1}}	\N
7475894	7473439	F1052V/G1249R(G>C)	{"CFTR": {"F1052V": 1, "G1249R(G>C)": 1}}	\N
7475895	7473439	G1069R/G1249R(G>A)	{"CFTR": {"G1069R": 1, "G1249R(G>A)": 1}}	\N
7475896	7473439	3849+10kbC->T/L967S	{"CFTR": {"L967S": 1, "3849+10kbC->T": 1}}	\N
7475897	7473439	A1067T/L967S	{"CFTR": {"L967S": 1, "A1067T": 1}}	\N
7475898	7473439	F508C/Q1291R	{"CFTR": {"F508C": 1, "Q1291R": 1}}	\N
7475899	7473439	S549R(A>C)/S589N	{"CFTR": {"S589N": 1, "S549R(A>C)": 1}}	\N
7475900	7473439	A1067T/Y1014C	{"CFTR": {"A1067T": 1, "Y1014C": 1}}	\N
7475901	7473439	G1069R/I1139V	{"CFTR": {"G1069R": 1, "I1139V": 1}}	\N
7475902	7473439	G1069R/V1293G	{"CFTR": {"G1069R": 1, "V1293G": 1}}	\N
7475903	7473439	D1152H/S549R(A>C)	{"CFTR": {"D1152H": 1, "S549R(A>C)": 1}}	\N
7475904	7473439	F508C,S1251N/S1251N	{"CFTR": {"S1251N": 1, "F508C,S1251N": 1}}	\N
7475905	7473439	I807M/M952I(G>T)	{"CFTR": {"I807M": 1, "M952I(G>T)": 1}}	\N
7475906	7473439	L206W/R933G	{"CFTR": {"L206W": 1, "R933G": 1}}	\N
7475907	7473439	3849+10kbC->T/A234D	{"CFTR": {"A234D": 1, "3849+10kbC->T": 1}}	\N
7475908	7473439	A455E/E56K	{"CFTR": {"E56K": 1, "A455E": 1}}	\N
7475909	7473439	R668C/S1159P	{"CFTR": {"R668C": 1, "S1159P": 1}}	\N
7475910	7473439	3849+10kbC->T/Y1014C	{"CFTR": {"Y1014C": 1, "3849+10kbC->T": 1}}	\N
7475911	7473439	R668C/S1159F	{"CFTR": {"R668C": 1, "S1159F": 1}}	\N
7475912	7473439	F508C,S1251N/G1069R	{"CFTR": {"G1069R": 1, "F508C,S1251N": 1}}	\N
7475913	7473439	D110E/L997F(G>T)	{"CFTR": {"D110E": 1, "L997F(G>T)": 1}}	\N
7475914	7473439	A455E/D924N	{"CFTR": {"A455E": 1, "D924N": 1}}	\N
7475915	7473439	D579G/L1480P	{"CFTR": {"D579G": 1, "L1480P": 1}}	\N
7475916	7473439	3849+10kbC->T/R75Q	{"CFTR": {"R75Q": 1, "3849+10kbC->T": 1}}	\N
7475917	7473439	F508C,S1251N/S1255P	{"CFTR": {"S1255P": 1, "F508C,S1251N": 1}}	\N
7475918	7473439	F311L/Y1032C	{"CFTR": {"F311L": 1, "Y1032C": 1}}	\N
7475919	7473439	G194R(G>C)/G1249R(G>A)	{"CFTR": {"G194R(G>C)": 1, "G1249R(G>A)": 1}}	\N
7475920	7473439	I807M/S549R(A>C)	{"CFTR": {"I807M": 1, "S549R(A>C)": 1}}	\N
7475921	7473439	R792G/Y1032C	{"CFTR": {"R792G": 1, "Y1032C": 1}}	\N
7475922	7473439	G551S/L997F(G>C)	{"CFTR": {"G551S": 1, "L997F(G>C)": 1}}	\N
7475923	7473439	R933G/R1162L	{"CFTR": {"R933G": 1, "R1162L": 1}}	\N
7475924	7473439	D110H/L997F(G>T)	{"CFTR": {"D110H": 1, "L997F(G>T)": 1}}	\N
7475925	7473439	D1152H/V754M	{"CFTR": {"V754M": 1, "D1152H": 1}}	\N
7475926	7473439	G1349D/I175V	{"CFTR": {"I175V": 1, "G1349D": 1}}	\N
7475927	7473439	F1052V/G1249R(G>A)	{"CFTR": {"F1052V": 1, "G1249R(G>A)": 1}}	\N
7475928	7473439	F1052V/Q1291R	{"CFTR": {"F1052V": 1, "Q1291R": 1}}	\N
7475929	7473439	G1249R(G>A)/T1053I	{"CFTR": {"T1053I": 1, "G1249R(G>A)": 1}}	\N
7475930	7473439	H939R/M952I(G>A)	{"CFTR": {"H939R": 1, "M952I(G>A)": 1}}	\N
7475931	7473439	G1249R(G>C)/K1060T	{"CFTR": {"K1060T": 1, "G1249R(G>C)": 1}}	\N
7475932	7473439	G1069R/P67L	{"CFTR": {"P67L": 1, "G1069R": 1}}	\N
7475933	7473439	D110E/R668C	{"CFTR": {"D110E": 1, "R668C": 1}}	\N
7475934	7473439	E831X/R75Q	{"CFTR": {"R75Q": 1, "E831X": 1}}	\N
7475935	7473439	D579G/L320V	{"CFTR": {"D579G": 1, "L320V": 1}}	\N
7475936	7473439	L997F(G>T)/S977F	{"CFTR": {"S977F": 1, "L997F(G>T)": 1}}	\N
7475937	7473439	L1480P/R75Q	{"CFTR": {"R75Q": 1, "L1480P": 1}}	\N
7475938	7473439	D110E/I807M	{"CFTR": {"D110E": 1, "I807M": 1}}	\N
7475939	7473439	D1152H/M952I(G>T)	{"CFTR": {"D1152H": 1, "M952I(G>T)": 1}}	\N
7475940	7473439	I1139V/L206W	{"CFTR": {"L206W": 1, "I1139V": 1}}	\N
7475941	7473439	3849+10kbC->T/R74W	{"CFTR": {"R74W": 1, "3849+10kbC->T": 1}}	\N
7475942	7473439	E831X/R74W	{"CFTR": {"R74W": 1, "E831X": 1}}	\N
7475943	7473439	G576A/S737F	{"CFTR": {"G576A": 1, "S737F": 1}}	\N
7475944	7473439	L1480P/R74W	{"CFTR": {"R74W": 1, "L1480P": 1}}	\N
7475945	7473439	M952T/S549N	{"CFTR": {"M952T": 1, "S549N": 1}}	\N
7475946	7473439	E56K/W1282R	{"CFTR": {"E56K": 1, "W1282R": 1}}	\N
7475947	7473439	E831X/K1060T	{"CFTR": {"E831X": 1, "K1060T": 1}}	\N
7475948	7473439	A349V/R170H	{"CFTR": {"A349V": 1, "R170H": 1}}	\N
7475949	7473439	M952I(G>A)/R352Q	{"CFTR": {"R352Q": 1, "M952I(G>A)": 1}}	\N
7475950	7473439	3849+10kbC->T/G194R(G>C)	{"CFTR": {"G194R(G>C)": 1, "3849+10kbC->T": 1}}	\N
7475951	7473439	R1162L/Y1032C	{"CFTR": {"R1162L": 1, "Y1032C": 1}}	\N
7475952	7473439	D110E/R792G	{"CFTR": {"D110E": 1, "R792G": 1}}	\N
7475953	7473439	G194R(G>A)/R1070W	{"CFTR": {"R1070W": 1, "G194R(G>A)": 1}}	\N
7475954	7473439	M952I(G>C)/S1159F	{"CFTR": {"S1159F": 1, "M952I(G>C)": 1}}	\N
7475955	7473439	A455E/G551D	{"CFTR": {"A455E": 1, "G551D": 1}}	\N
7475956	7473439	R792G/S1159P	{"CFTR": {"R792G": 1, "S1159P": 1}}	\N
7475957	7473439	F508C,S1251N/Q237E	{"CFTR": {"Q237E": 1, "F508C,S1251N": 1}}	\N
7475958	7473439	D924N/R792G	{"CFTR": {"D924N": 1, "R792G": 1}}	\N
7475959	7473439	G1069R/R117P	{"CFTR": {"R117P": 1, "G1069R": 1}}	\N
7475960	7473439	F508C,S1251N/Q237H	{"CFTR": {"Q237H": 1, "F508C,S1251N": 1}}	\N
7475961	7473439	M952I(G>C)/S1159P	{"CFTR": {"S1159P": 1, "M952I(G>C)": 1}}	\N
7475962	7473439	F508C,S1251N/G1244E	{"CFTR": {"G1244E": 1, "F508C,S1251N": 1}}	\N
7475963	7473439	A120T/Y1032C	{"CFTR": {"A120T": 1, "Y1032C": 1}}	\N
7475964	7473439	A455E/G551S	{"CFTR": {"A455E": 1, "G551S": 1}}	\N
7475965	7473439	G1069R/R553Q	{"CFTR": {"R553Q": 1, "G1069R": 1}}	\N
7475966	7473439	E822K/Q1291R	{"CFTR": {"E822K": 1, "Q1291R": 1}}	\N
7475967	7473439	A234D/R352Q	{"CFTR": {"A234D": 1, "R352Q": 1}}	\N
7475968	7473439	G194R(G>A)/R1070Q	{"CFTR": {"R1070Q": 1, "G194R(G>A)": 1}}	\N
7475969	7473439	R792G/S1159F	{"CFTR": {"R792G": 1, "S1159F": 1}}	\N
7475970	7473439	D110H/G1349D	{"CFTR": {"D110H": 1, "G1349D": 1}}	\N
7475971	7473439	I1139V/M952I(G>A)	{"CFTR": {"I1139V": 1, "M952I(G>A)": 1}}	\N
7475972	7473439	I1139V/M952I(G>C)	{"CFTR": {"I1139V": 1, "M952I(G>C)": 1}}	\N
7475973	7473439	M952I(G>T)/S1159P	{"CFTR": {"S1159P": 1, "M952I(G>T)": 1}}	\N
7475974	7473439	G194R(G>A)/V754M	{"CFTR": {"V754M": 1, "G194R(G>A)": 1}}	\N
7475975	7473439	A349V/I148T	{"CFTR": {"A349V": 1, "I148T": 1}}	\N
7475976	7473439	D110H/R1162L	{"CFTR": {"D110H": 1, "R1162L": 1}}	\N
7475977	7473439	H1375P/Q237E	{"CFTR": {"Q237E": 1, "H1375P": 1}}	\N
7475978	7473439	2789+5G->A/F311del	{"CFTR": {"F311del": 1, "2789+5G->A": 1}}	\N
7475979	7473439	F1074L/S1159P	{"CFTR": {"F1074L": 1, "S1159P": 1}}	\N
7475980	7473439	K1060T/R553Q	{"CFTR": {"R553Q": 1, "K1060T": 1}}	\N
7475981	7473439	L967S/M952I(G>T)	{"CFTR": {"L967S": 1, "M952I(G>T)": 1}}	\N
7475982	7473439	E822K/G551D	{"CFTR": {"E822K": 1, "G551D": 1}}	\N
7475983	7473439	H1375P/Q237H	{"CFTR": {"Q237H": 1, "H1375P": 1}}	\N
7475984	7473439	M952T/T1053I	{"CFTR": {"M952T": 1, "T1053I": 1}}	\N
7475985	7473439	D924N/R1162L	{"CFTR": {"D924N": 1, "R1162L": 1}}	\N
7475986	7473439	E831X/R933G	{"CFTR": {"E831X": 1, "R933G": 1}}	\N
7475987	7473439	G1069R/H939R	{"CFTR": {"H939R": 1, "G1069R": 1}}	\N
7475988	7473439	L1480P/R933G	{"CFTR": {"R933G": 1, "L1480P": 1}}	\N
7475989	7473439	D110H/R352Q	{"CFTR": {"D110H": 1, "R352Q": 1}}	\N
7475990	7473439	E822K/M952T	{"CFTR": {"E822K": 1, "M952T": 1}}	\N
7475991	7473439	G576A/V232D	{"CFTR": {"G576A": 1, "V232D": 1}}	\N
7475992	7473439	G194R(G>A)/M952I(G>T)	{"CFTR": {"G194R(G>A)": 1, "M952I(G>T)": 1}}	\N
7475993	7473439	F1074L/S1159F	{"CFTR": {"F1074L": 1, "S1159F": 1}}	\N
7475994	7473439	R347H/R553Q	{"CFTR": {"R347H": 1, "R553Q": 1}}	\N
7475995	7473439	E822K/G551S	{"CFTR": {"E822K": 1, "G551S": 1}}	\N
7475996	7473439	Q359R/Q1291R	{"CFTR": {"Q359R": 1, "Q1291R": 1}}	\N
7475997	7473439	M152V/Y1032C	{"CFTR": {"M152V": 1, "Y1032C": 1}}	\N
7475998	7473439	K1060T/R117C	{"CFTR": {"R117C": 1, "K1060T": 1}}	\N
7475999	7473439	G178E/S977F	{"CFTR": {"G178E": 1, "S977F": 1}}	\N
7476000	7473439	G194R(G>C)/I1139V	{"CFTR": {"I1139V": 1, "G194R(G>C)": 1}}	\N
7476001	7473439	D579G/G551D	{"CFTR": {"D579G": 1, "G551D": 1}}	\N
7476002	7473439	I148T/I807M	{"CFTR": {"I148T": 1, "I807M": 1}}	\N
7476003	7473439	L967S/V754M	{"CFTR": {"L967S": 1, "V754M": 1}}	\N
7476004	7473439	Q237H/V754M	{"CFTR": {"Q237H": 1, "V754M": 1}}	\N
7476005	7473439	D924N/W1282R	{"CFTR": {"D924N": 1, "W1282R": 1}}	\N
7476006	7473439	K1060T/R117L	{"CFTR": {"R117L": 1, "K1060T": 1}}	\N
7476007	7473439	L206W/Y1014C	{"CFTR": {"L206W": 1, "Y1014C": 1}}	\N
7476008	7473439	2789+5G->A/M952I(G>C)	{"CFTR": {"2789+5G->A": 1, "M952I(G>C)": 1}}	\N
7476009	7473439	K1060T/R117P	{"CFTR": {"R117P": 1, "K1060T": 1}}	\N
7476010	7473439	D579G/G551S	{"CFTR": {"D579G": 1, "G551S": 1}}	\N
7476011	7473439	D110E/W1282R	{"CFTR": {"D110E": 1, "W1282R": 1}}	\N
7476012	7473439	G194R(G>C)/T338I	{"CFTR": {"T338I": 1, "G194R(G>C)": 1}}	\N
7476013	7473439	K1060T/R117G	{"CFTR": {"R117G": 1, "K1060T": 1}}	\N
7476014	7473439	G551S/R347H	{"CFTR": {"G551S": 1, "R347H": 1}}	\N
7476015	7473439	K1060T/R117H	{"CFTR": {"R117H": 1, "K1060T": 1}}	\N
7476016	7473439	S1251N/V562I	{"CFTR": {"V562I": 1, "S1251N": 1}}	\N
7476017	7473439	E193K/S1159P	{"CFTR": {"E193K": 1, "S1159P": 1}}	\N
7476018	7473439	F311del/F311L	{"CFTR": {"F311L": 1, "F311del": 1}}	\N
7476019	7473439	D579G/Q1291R	{"CFTR": {"D579G": 1, "Q1291R": 1}}	\N
7476020	7473439	G1069R/R117C	{"CFTR": {"R117C": 1, "G1069R": 1}}	\N
7476021	7473439	G551S/R347L	{"CFTR": {"G551S": 1, "R347L": 1}}	\N
7504201	7504184	Nice	{"G6PD": {"Nice": 1}}	\N
7476022	7473439	R74W/V1293G	{"CFTR": {"R74W": 1, "V1293G": 1}}	\N
7476023	7473439	711+3A->G/S1251N	{"CFTR": {"S1251N": 1, "711+3A->G": 1}}	\N
7476024	7473439	I807M/I1027T	{"CFTR": {"I807M": 1, "I1027T": 1}}	\N
7476025	7473439	G1069R/G1249R(G>C)	{"CFTR": {"G1069R": 1, "G1249R(G>C)": 1}}	\N
7476026	7473439	G1069R/R117G	{"CFTR": {"R117G": 1, "G1069R": 1}}	\N
7476027	7473439	F1052V/L320V	{"CFTR": {"L320V": 1, "F1052V": 1}}	\N
7476028	7473439	G1069R/R117H	{"CFTR": {"R117H": 1, "G1069R": 1}}	\N
7476029	7473439	G1069R/R117L	{"CFTR": {"R117L": 1, "G1069R": 1}}	\N
7476030	7473439	A234D/G1349D	{"CFTR": {"A234D": 1, "G1349D": 1}}	\N
7476031	7473439	E56K/R170H	{"CFTR": {"E56K": 1, "R170H": 1}}	\N
7476032	7473439	I148T/R792G	{"CFTR": {"I148T": 1, "R792G": 1}}	\N
7476033	7473439	G194R(G>A)/I1027T	{"CFTR": {"I1027T": 1, "G194R(G>A)": 1}}	\N
7476034	7473439	E193K/S1159F	{"CFTR": {"E193K": 1, "S1159F": 1}}	\N
7476035	7473439	Q1291R/Y1032C	{"CFTR": {"Q1291R": 1, "Y1032C": 1}}	\N
7476036	7473439	D579G/H1375P	{"CFTR": {"D579G": 1, "H1375P": 1}}	\N
7476037	7473439	D1152H/L967S	{"CFTR": {"L967S": 1, "D1152H": 1}}	\N
7476038	7473439	A234D/W1282R	{"CFTR": {"A234D": 1, "W1282R": 1}}	\N
7476039	7473439	A455E/A455E	{"CFTR": {"A455E": 2}}	\N
7476040	7473439	G178E/Y1032C	{"CFTR": {"G178E": 1, "Y1032C": 1}}	\N
7476041	7473439	711+3A->G/V562I	{"CFTR": {"V562I": 1, "711+3A->G": 1}}	\N
7476042	7473439	R347L/T338I	{"CFTR": {"R347L": 1, "T338I": 1}}	\N
7476043	7473439	2789+5G->A/S945L	{"CFTR": {"S945L": 1, "2789+5G->A": 1}}	\N
7476044	7473439	A455E/M952T	{"CFTR": {"A455E": 1, "M952T": 1}}	\N
7476045	7473439	D924N/R352Q	{"CFTR": {"D924N": 1, "R352Q": 1}}	\N
7476046	7473439	Q237H/R1070Q	{"CFTR": {"Q237H": 1, "R1070Q": 1}}	\N
7476047	7473439	A349V/L997F(G>T)	{"CFTR": {"A349V": 1, "L997F(G>T)": 1}}	\N
7476048	7473439	Q237E/V754M	{"CFTR": {"Q237E": 1, "V754M": 1}}	\N
7476049	7473439	H1375P/L206W	{"CFTR": {"L206W": 1, "H1375P": 1}}	\N
7476050	7473439	F508C/M952T	{"CFTR": {"F508C": 1, "M952T": 1}}	\N
7476051	7473439	Q237H/R1070W	{"CFTR": {"Q237H": 1, "R1070W": 1}}	\N
7476052	7473439	R347H/V1293G	{"CFTR": {"R347H": 1, "V1293G": 1}}	\N
7476053	7473439	711+3A->G/I175V	{"CFTR": {"I175V": 1, "711+3A->G": 1}}	\N
7476054	7473439	3849+10kbC->T/R933G	{"CFTR": {"R933G": 1, "3849+10kbC->T": 1}}	\N
7476055	7473439	G551D/R170H	{"CFTR": {"G551D": 1, "R170H": 1}}	\N
7476056	7473439	D924N/L997F(G>T)	{"CFTR": {"D924N": 1, "L997F(G>T)": 1}}	\N
7476057	7473439	2789+5G->A/G314E	{"CFTR": {"G314E": 1, "2789+5G->A": 1}}	\N
7476058	7473439	D192G/F311L	{"CFTR": {"D192G": 1, "F311L": 1}}	\N
7476059	7473439	I175V/M952I(G>A)	{"CFTR": {"I175V": 1, "M952I(G>A)": 1}}	\N
7476060	7473439	D110H/W1282R	{"CFTR": {"D110H": 1, "W1282R": 1}}	\N
7476061	7473439	I148T/I148T	{"CFTR": {"I148T": 2}}	\N
7476062	7473439	R347L/R553Q	{"CFTR": {"R347L": 1, "R553Q": 1}}	\N
7476063	7473439	D110E/G1349D	{"CFTR": {"D110E": 1, "G1349D": 1}}	\N
7476064	7473439	F1052V/L1480P	{"CFTR": {"F1052V": 1, "L1480P": 1}}	\N
7476065	7473439	3272-26A->G/R668C	{"CFTR": {"R668C": 1, "3272-26A->G": 1}}	\N
7476066	7473439	D110H/R792G	{"CFTR": {"D110H": 1, "R792G": 1}}	\N
7476067	7473439	I1027T/R792G	{"CFTR": {"R792G": 1, "I1027T": 1}}	\N
7476068	7473439	K1060T/V1293G	{"CFTR": {"K1060T": 1, "V1293G": 1}}	\N
7476069	7473439	D924N/I807M	{"CFTR": {"D924N": 1, "I807M": 1}}	\N
7476070	7473439	A1067T/S549R(A>C)	{"CFTR": {"A1067T": 1, "S549R(A>C)": 1}}	\N
7476071	7473439	I148T/W1282R	{"CFTR": {"I148T": 1, "W1282R": 1}}	\N
7476072	7473439	A349V/I807M	{"CFTR": {"A349V": 1, "I807M": 1}}	\N
7476073	7473439	G178R/S1159F	{"CFTR": {"G178R": 1, "S1159F": 1}}	\N
7476074	7473439	Q237E/R1070W	{"CFTR": {"Q237E": 1, "R1070W": 1}}	\N
7476075	7473439	D110E/R1162L	{"CFTR": {"D110E": 1, "R1162L": 1}}	\N
7476076	7473439	G551D/G970D	{"CFTR": {"G551D": 1, "G970D": 1}}	\N
7476077	7473439	Q237E/R1070Q	{"CFTR": {"Q237E": 1, "R1070Q": 1}}	\N
7476078	7473439	G194R(G>A)/S549R(A>C)	{"CFTR": {"G194R(G>A)": 1, "S549R(A>C)": 1}}	\N
7476079	7473439	G178R/S1159P	{"CFTR": {"G178R": 1, "S1159P": 1}}	\N
7476080	7473439	S945L/T338I	{"CFTR": {"S945L": 1, "T338I": 1}}	\N
7476081	7473439	F508C,S1251N/F1052V	{"CFTR": {"F1052V": 1, "F508C,S1251N": 1}}	\N
7476082	7473439	H1375P/S589N	{"CFTR": {"S589N": 1, "H1375P": 1}}	\N
7476083	7473439	R1162L/S977F	{"CFTR": {"S977F": 1, "R1162L": 1}}	\N
7476084	7473439	A234D/R792G	{"CFTR": {"A234D": 1, "R792G": 1}}	\N
7476085	7473439	M952I(G>T)/S1159F	{"CFTR": {"S1159F": 1, "M952I(G>T)": 1}}	\N
7476086	7473439	L320V/T338I	{"CFTR": {"L320V": 1, "T338I": 1}}	\N
7476087	7473439	G314E/R75Q	{"CFTR": {"R75Q": 1, "G314E": 1}}	\N
7476088	7473439	G314E/R74W	{"CFTR": {"R74W": 1, "G314E": 1}}	\N
7476089	7473439	L967S/R1070Q	{"CFTR": {"L967S": 1, "R1070Q": 1}}	\N
7476090	7473439	I1139V/Q237E	{"CFTR": {"Q237E": 1, "I1139V": 1}}	\N
7476091	7473439	D110H/I148T	{"CFTR": {"D110H": 1, "I148T": 1}}	\N
7476092	7473439	I1139V/Q237H	{"CFTR": {"Q237H": 1, "I1139V": 1}}	\N
7476093	7473439	K1060T/Q359R	{"CFTR": {"Q359R": 1, "K1060T": 1}}	\N
7476094	7473439	G314E/K1060T	{"CFTR": {"G314E": 1, "K1060T": 1}}	\N
7476095	7473439	L967S/R1070W	{"CFTR": {"L967S": 1, "R1070W": 1}}	\N
7476096	7473439	T1053I/V232D	{"CFTR": {"V232D": 1, "T1053I": 1}}	\N
7476097	7473439	M952T/R1283M	{"CFTR": {"M952T": 1, "R1283M": 1}}	\N
7476098	7473439	G1069R/T338I	{"CFTR": {"T338I": 1, "G1069R": 1}}	\N
7476099	7473439	G1349D/L206W	{"CFTR": {"L206W": 1, "G1349D": 1}}	\N
7476100	7473439	G551S/R1283M	{"CFTR": {"G551S": 1, "R1283M": 1}}	\N
7476101	7473439	I148T/R352Q	{"CFTR": {"I148T": 1, "R352Q": 1}}	\N
7476102	7473439	A234D/R1162L	{"CFTR": {"A234D": 1, "R1162L": 1}}	\N
7476103	7473439	I175V/M952I(G>C)	{"CFTR": {"I175V": 1, "M952I(G>C)": 1}}	\N
7476104	7473439	R553Q/W1282R	{"CFTR": {"R553Q": 1, "W1282R": 1}}	\N
7476105	7473439	D110E/F311L	{"CFTR": {"D110E": 1, "F311L": 1}}	\N
7476106	7473439	F1074L/R1070W	{"CFTR": {"F1074L": 1, "R1070W": 1}}	\N
7476107	7473439	R74W/R74W	{"CFTR": {"R74W": 2}}	\N
7476108	7473439	G314E/Q1291R	{"CFTR": {"G314E": 1, "Q1291R": 1}}	\N
7476109	7473439	R1283M/V754M	{"CFTR": {"V754M": 1, "R1283M": 1}}	\N
7476110	7473439	711+3A->G/L206W	{"CFTR": {"L206W": 1, "711+3A->G": 1}}	\N
7476111	7473439	H939R/S1255P	{"CFTR": {"H939R": 1, "S1255P": 1}}	\N
7476112	7473439	M952T/R933G	{"CFTR": {"M952T": 1, "R933G": 1}}	\N
7476113	7473439	S549N/S737F	{"CFTR": {"S549N": 1, "S737F": 1}}	\N
7476114	7473439	G1249R(G>C)/I807M	{"CFTR": {"I807M": 1, "G1249R(G>C)": 1}}	\N
7476115	7473439	A120T/A455E	{"CFTR": {"A120T": 1, "A455E": 1}}	\N
7476116	7473439	R347L/V754M	{"CFTR": {"R347L": 1, "V754M": 1}}	\N
7476117	7473439	G1249R(G>A)/T338I	{"CFTR": {"T338I": 1, "G1249R(G>A)": 1}}	\N
7476118	7473439	I1027T/V232D	{"CFTR": {"V232D": 1, "I1027T": 1}}	\N
7476119	7473439	A349V/S589N	{"CFTR": {"A349V": 1, "S589N": 1}}	\N
7476120	7473439	Q237H/R933G	{"CFTR": {"Q237H": 1, "R933G": 1}}	\N
7476121	7473439	I1027T/T1053I	{"CFTR": {"I1027T": 1, "T1053I": 1}}	\N
7476122	7473439	S1159F/T338I	{"CFTR": {"T338I": 1, "S1159F": 1}}	\N
7476123	7473439	I1027T/S737F	{"CFTR": {"S737F": 1, "I1027T": 1}}	\N
7476124	7473439	G1249R(G>A)/R1283M	{"CFTR": {"R1283M": 1, "G1249R(G>A)": 1}}	\N
7476125	7473439	A349V/E56K	{"CFTR": {"E56K": 1, "A349V": 1}}	\N
7476126	7473439	D192G/L206W	{"CFTR": {"D192G": 1, "L206W": 1}}	\N
7476127	7473439	S549N/T1053I	{"CFTR": {"S549N": 1, "T1053I": 1}}	\N
7476128	7473439	R74W/R75Q	{"CFTR": {"R74W": 1, "R75Q": 1}}	\N
7476129	7473439	E193K/M952I(G>C)	{"CFTR": {"E193K": 1, "M952I(G>C)": 1}}	\N
7476130	7473439	S549N/V232D	{"CFTR": {"S549N": 1, "V232D": 1}}	\N
7476131	7473439	S977F/V754M	{"CFTR": {"S977F": 1, "V754M": 1}}	\N
7476132	7473439	D1270N/T338I	{"CFTR": {"T338I": 1, "D1270N": 1}}	\N
7476133	7473439	A234D/Q237H	{"CFTR": {"A234D": 1, "Q237H": 1}}	\N
7476134	7473439	D110H/K1060T	{"CFTR": {"D110H": 1, "K1060T": 1}}	\N
7476135	7473439	I807M/S977F	{"CFTR": {"I807M": 1, "S977F": 1}}	\N
7476136	7473439	L1480P/M952I(G>C)	{"CFTR": {"L1480P": 1, "M952I(G>C)": 1}}	\N
7476137	7473439	A455E/M952I(G>C)	{"CFTR": {"A455E": 1, "M952I(G>C)": 1}}	\N
7476138	7473439	D1270N/L320V	{"CFTR": {"L320V": 1, "D1270N": 1}}	\N
7476139	7473439	I1139V/S945L	{"CFTR": {"S945L": 1, "I1139V": 1}}	\N
7476140	7473439	F311del/G576A	{"CFTR": {"G576A": 1, "F311del": 1}}	\N
7476141	7473439	D579G/G194R(G>A)	{"CFTR": {"D579G": 1, "G194R(G>A)": 1}}	\N
7476142	7473439	I148T/L320V	{"CFTR": {"I148T": 1, "L320V": 1}}	\N
7476143	7473439	V754M/Y1032C	{"CFTR": {"V754M": 1, "Y1032C": 1}}	\N
7476144	7473439	D579G/G178E	{"CFTR": {"D579G": 1, "G178E": 1}}	\N
7476145	7473439	I148T/T338I	{"CFTR": {"I148T": 1, "T338I": 1}}	\N
7476146	7473439	R117L/R1070W	{"CFTR": {"R117L": 1, "R1070W": 1}}	\N
7476147	7473439	D579G/S549N	{"CFTR": {"D579G": 1, "S549N": 1}}	\N
7476148	7473439	R117L/R1070Q	{"CFTR": {"R117L": 1, "R1070Q": 1}}	\N
7476149	7473439	M152V/S945L	{"CFTR": {"M152V": 1, "S945L": 1}}	\N
7476150	7473439	D1152H/I148T	{"CFTR": {"I148T": 1, "D1152H": 1}}	\N
7476151	7473439	M952I(G>C)/S549R(A>C)	{"CFTR": {"M952I(G>C)": 1, "S549R(A>C)": 1}}	\N
7476152	7473439	2789+5G->A/W1282R	{"CFTR": {"W1282R": 1, "2789+5G->A": 1}}	\N
7476153	7473439	S945L/S1251N	{"CFTR": {"S945L": 1, "S1251N": 1}}	\N
7476154	7473439	D192G/G1249R(G>A)	{"CFTR": {"D192G": 1, "G1249R(G>A)": 1}}	\N
7476155	7473439	H939R/H1375P	{"CFTR": {"H939R": 1, "H1375P": 1}}	\N
7476156	7473439	S549R(T>G)/S945L	{"CFTR": {"S945L": 1, "S549R(T>G)": 1}}	\N
7476157	7473439	M952I(G>T)/V754M	{"CFTR": {"V754M": 1, "M952I(G>T)": 1}}	\N
7476158	7473439	S549R(A>C)/W1282R	{"CFTR": {"W1282R": 1, "S549R(A>C)": 1}}	\N
7476159	7473439	G194R(G>C)/W1282R	{"CFTR": {"W1282R": 1, "G194R(G>C)": 1}}	\N
7476160	7473439	R1162L/S1251N	{"CFTR": {"R1162L": 1, "S1251N": 1}}	\N
7476161	7473439	D579G/G178R	{"CFTR": {"D579G": 1, "G178R": 1}}	\N
7476162	7473439	E822K/R352Q	{"CFTR": {"E822K": 1, "R352Q": 1}}	\N
7476163	7473439	I1027T/M152V	{"CFTR": {"M152V": 1, "I1027T": 1}}	\N
7476164	7473439	711+3A->G/G1249R(G>A)	{"CFTR": {"711+3A->G": 1, "G1249R(G>A)": 1}}	\N
7476165	7473439	A1067T/D1270N	{"CFTR": {"A1067T": 1, "D1270N": 1}}	\N
7476166	7473439	G551D/R352Q	{"CFTR": {"G551D": 1, "R352Q": 1}}	\N
7476167	7473439	A234D/Q237E	{"CFTR": {"A234D": 1, "Q237E": 1}}	\N
7476168	7473439	G970D/S549N	{"CFTR": {"G970D": 1, "S549N": 1}}	\N
7476169	7473439	L997F(G>C)/R74W	{"CFTR": {"R74W": 1, "L997F(G>C)": 1}}	\N
7476170	7473439	D1152H/F1052V	{"CFTR": {"D1152H": 1, "F1052V": 1}}	\N
7476171	7473439	R1070Q/S549N	{"CFTR": {"S549N": 1, "R1070Q": 1}}	\N
7476172	7473439	3849+10kbC->T/F311L	{"CFTR": {"F311L": 1, "3849+10kbC->T": 1}}	\N
7476173	7473439	F311del/S549R(A>C)	{"CFTR": {"F311del": 1, "S549R(A>C)": 1}}	\N
7476174	7473439	E822K/G970D	{"CFTR": {"E822K": 1, "G970D": 1}}	\N
7476175	7473439	I148T/R1283M	{"CFTR": {"I148T": 1, "R1283M": 1}}	\N
7476176	7473439	T1053I/V754M	{"CFTR": {"V754M": 1, "T1053I": 1}}	\N
7476177	7473439	A234D/Y1032C	{"CFTR": {"A234D": 1, "Y1032C": 1}}	\N
7476178	7473439	G178E/W1282R	{"CFTR": {"G178E": 1, "W1282R": 1}}	\N
7476179	7473439	L997F(G>T)/R75Q	{"CFTR": {"R75Q": 1, "L997F(G>T)": 1}}	\N
7476180	7473439	E193K/M952I(G>A)	{"CFTR": {"E193K": 1, "M952I(G>A)": 1}}	\N
7476181	7473439	V562I/V754M	{"CFTR": {"V562I": 1, "V754M": 1}}	\N
7476182	7473439	A234D/E831X	{"CFTR": {"A234D": 1, "E831X": 1}}	\N
7476183	7473439	A349V/I175V	{"CFTR": {"A349V": 1, "I175V": 1}}	\N
7476184	7473439	G576A/M952T	{"CFTR": {"G576A": 1, "M952T": 1}}	\N
7476185	7473439	E56K/P67L	{"CFTR": {"E56K": 1, "P67L": 1}}	\N
7476186	7473439	A120T/Y1014C	{"CFTR": {"A120T": 1, "Y1014C": 1}}	\N
7476187	7473439	A455E/L967S	{"CFTR": {"A455E": 1, "L967S": 1}}	\N
7476188	7473439	M952I(G>T)/S549R(A>C)	{"CFTR": {"M952I(G>T)": 1, "S549R(A>C)": 1}}	\N
7476189	7473439	R117P/W1282R	{"CFTR": {"R117P": 1, "W1282R": 1}}	\N
7476190	7473439	G551D/S1159F	{"CFTR": {"G551D": 1, "S1159F": 1}}	\N
7476191	7473439	E831X/Q237E	{"CFTR": {"E831X": 1, "Q237E": 1}}	\N
7476192	7473439	711+3A->G/E56K	{"CFTR": {"E56K": 1, "711+3A->G": 1}}	\N
7476193	7473439	M952I(G>C)/V754M	{"CFTR": {"V754M": 1, "M952I(G>C)": 1}}	\N
7476194	7473439	E831X/Q237H	{"CFTR": {"E831X": 1, "Q237H": 1}}	\N
7476195	7473439	L320V/W1282R	{"CFTR": {"L320V": 1, "W1282R": 1}}	\N
7476196	7473439	R352Q/Y1032C	{"CFTR": {"R352Q": 1, "Y1032C": 1}}	\N
7476197	7473439	I148T/V1293G	{"CFTR": {"I148T": 1, "V1293G": 1}}	\N
7476198	7473439	D579G/G194R(G>C)	{"CFTR": {"D579G": 1, "G194R(G>C)": 1}}	\N
7476199	7473439	2789+5G->A/I1027T	{"CFTR": {"I1027T": 1, "2789+5G->A": 1}}	\N
7476200	7473439	L997F(G>T)/R74W	{"CFTR": {"R74W": 1, "L997F(G>T)": 1}}	\N
7476201	7473439	A234D/G1249R(G>C)	{"CFTR": {"A234D": 1, "G1249R(G>C)": 1}}	\N
7476202	7473439	D192G/E56K	{"CFTR": {"E56K": 1, "D192G": 1}}	\N
7476203	7473439	E831X/E831X	{"CFTR": {"E831X": 2}}	\N
7476204	7473439	Q237H/S549R(T>G)	{"CFTR": {"Q237H": 1, "S549R(T>G)": 1}}	\N
7476205	7473439	R1283M/S549R(A>C)	{"CFTR": {"R1283M": 1, "S549R(A>C)": 1}}	\N
7476206	7473439	A349V/L206W	{"CFTR": {"A349V": 1, "L206W": 1}}	\N
7476207	7473439	D1152H/R668C	{"CFTR": {"R668C": 1, "D1152H": 1}}	\N
7476208	7473439	M952T/S549R(T>G)	{"CFTR": {"M952T": 1, "S549R(T>G)": 1}}	\N
7476209	7473439	D924N/F311L	{"CFTR": {"D924N": 1, "F311L": 1}}	\N
7476210	7473439	D1152H/V232D	{"CFTR": {"V232D": 1, "D1152H": 1}}	\N
7476211	7473439	D192G/Q237H	{"CFTR": {"D192G": 1, "Q237H": 1}}	\N
7476212	7473439	H939R/S1251N	{"CFTR": {"H939R": 1, "S1251N": 1}}	\N
7476213	7473439	R347H/V754M	{"CFTR": {"R347H": 1, "V754M": 1}}	\N
7476214	7473439	R668C/S549N	{"CFTR": {"R668C": 1, "S549N": 1}}	\N
7476215	7473439	G970D/R75Q	{"CFTR": {"R75Q": 1, "G970D": 1}}	\N
7476216	7473439	Q237E/S1251N	{"CFTR": {"Q237E": 1, "S1251N": 1}}	\N
7476217	7473439	D192G/Q237E	{"CFTR": {"D192G": 1, "Q237E": 1}}	\N
7476218	7473439	G194R(G>C)/R1070Q	{"CFTR": {"R1070Q": 1, "G194R(G>C)": 1}}	\N
7476219	7473439	G194R(G>C)/R1070W	{"CFTR": {"R1070W": 1, "G194R(G>C)": 1}}	\N
7476220	7473439	K1060T/R170H	{"CFTR": {"R170H": 1, "K1060T": 1}}	\N
7476221	7473439	D192G/S589N	{"CFTR": {"D192G": 1, "S589N": 1}}	\N
7476222	7473439	G1249R(G>A)/V1293G	{"CFTR": {"V1293G": 1, "G1249R(G>A)": 1}}	\N
7476223	7473439	L320V/R1070W	{"CFTR": {"L320V": 1, "R1070W": 1}}	\N
7476224	7473439	F311del/S945L	{"CFTR": {"S945L": 1, "F311del": 1}}	\N
7476225	7473439	E822K/S1159P	{"CFTR": {"E822K": 1, "S1159P": 1}}	\N
7476226	7473439	R74W/R347L	{"CFTR": {"R74W": 1, "R347L": 1}}	\N
7476227	7473439	L320V/R1070Q	{"CFTR": {"L320V": 1, "R1070Q": 1}}	\N
7504202	7504184	Palestrina	{"G6PD": {"Palestrina": 1}}	\N
7476228	7473439	D192G/I175V	{"CFTR": {"D192G": 1, "I175V": 1}}	\N
7476229	7473439	F508C/M152V	{"CFTR": {"F508C": 1, "M152V": 1}}	\N
7476230	7473439	G194R(G>A)/T1053I	{"CFTR": {"T1053I": 1, "G194R(G>A)": 1}}	\N
7476231	7473439	A1067T/L997F(G>C)	{"CFTR": {"A1067T": 1, "L997F(G>C)": 1}}	\N
7476232	7473439	G1249R(G>C)/S1159P	{"CFTR": {"S1159P": 1, "G1249R(G>C)": 1}}	\N
7476233	7473439	R74W/R347H	{"CFTR": {"R74W": 1, "R347H": 1}}	\N
7476234	7473439	L997F(G>C)/R75Q	{"CFTR": {"R75Q": 1, "L997F(G>C)": 1}}	\N
7476235	7473439	S737F/V754M	{"CFTR": {"S737F": 1, "V754M": 1}}	\N
7476236	7473439	I1027T/R668C	{"CFTR": {"R668C": 1, "I1027T": 1}}	\N
7476237	7473439	2789+5G->A/R1070W	{"CFTR": {"R1070W": 1, "2789+5G->A": 1}}	\N
7476238	7473439	G194R(G>A)/M152V	{"CFTR": {"M152V": 1, "G194R(G>A)": 1}}	\N
7476239	7473439	R117P/R1070W	{"CFTR": {"R117P": 1, "R1070W": 1}}	\N
7476240	7473439	G1249R(G>C)/S1159F	{"CFTR": {"S1159F": 1, "G1249R(G>C)": 1}}	\N
7476241	7473439	G1249R(G>A)/R117C	{"CFTR": {"R117C": 1, "G1249R(G>A)": 1}}	\N
7476242	7473439	2789+5G->A/R1070Q	{"CFTR": {"R1070Q": 1, "2789+5G->A": 1}}	\N
7476243	7473439	A234D/G1249R(G>A)	{"CFTR": {"A234D": 1, "G1249R(G>A)": 1}}	\N
7476244	7473439	S1159F/V1293G	{"CFTR": {"S1159F": 1, "V1293G": 1}}	\N
7476245	7473439	H939R/M952I(G>T)	{"CFTR": {"H939R": 1, "M952I(G>T)": 1}}	\N
7476246	7473439	S945L/S1255P	{"CFTR": {"S945L": 1, "S1255P": 1}}	\N
7476247	7473439	I1139V/S549R(A>C)	{"CFTR": {"I1139V": 1, "S549R(A>C)": 1}}	\N
7476248	7473439	L206W/L997F(G>C)	{"CFTR": {"L206W": 1, "L997F(G>C)": 1}}	\N
7476249	7473439	D579G/R347H	{"CFTR": {"D579G": 1, "R347H": 1}}	\N
7476250	7473439	F508C/T1053I	{"CFTR": {"F508C": 1, "T1053I": 1}}	\N
7476251	7473439	D579G/R347L	{"CFTR": {"D579G": 1, "R347L": 1}}	\N
7476252	7473439	G1249R(G>A)/R553Q	{"CFTR": {"R553Q": 1, "G1249R(G>A)": 1}}	\N
7476253	7473439	D1270N/R1283M	{"CFTR": {"D1270N": 1, "R1283M": 1}}	\N
7476254	7473439	G1249R(G>A)/R117P	{"CFTR": {"R117P": 1, "G1249R(G>A)": 1}}	\N
7476255	7473439	711+3A->G/E831X	{"CFTR": {"E831X": 1, "711+3A->G": 1}}	\N
7476256	7473439	D579G/G1069R	{"CFTR": {"D579G": 1, "G1069R": 1}}	\N
7476257	7473439	G551S/S549N	{"CFTR": {"G551S": 1, "S549N": 1}}	\N
7476258	7473439	G1249R(G>A)/L320V	{"CFTR": {"L320V": 1, "G1249R(G>A)": 1}}	\N
7476259	7473439	L997F(G>C)/R1070W	{"CFTR": {"R1070W": 1, "L997F(G>C)": 1}}	\N
7476260	7473439	G1249R(G>A)/R117L	{"CFTR": {"R117L": 1, "G1249R(G>A)": 1}}	\N
7476261	7473439	S1251N/Y1032C	{"CFTR": {"S1251N": 1, "Y1032C": 1}}	\N
7476262	7473439	G1249R(G>A)/R117G	{"CFTR": {"R117G": 1, "G1249R(G>A)": 1}}	\N
7476263	7473439	Q237E/R933G	{"CFTR": {"Q237E": 1, "R933G": 1}}	\N
7476264	7473439	D110E/K1060T	{"CFTR": {"D110E": 1, "K1060T": 1}}	\N
7476265	7473439	G1249R(G>A)/R117H	{"CFTR": {"R117H": 1, "G1249R(G>A)": 1}}	\N
7476266	7473439	R117P/R1070Q	{"CFTR": {"R117P": 1, "R1070Q": 1}}	\N
7476267	7473439	G970D/G1244E	{"CFTR": {"G970D": 1, "G1244E": 1}}	\N
7476268	7473439	D192G/Y1032C	{"CFTR": {"D192G": 1, "Y1032C": 1}}	\N
7476269	7473439	Q1291R/V1293G	{"CFTR": {"Q1291R": 1, "V1293G": 1}}	\N
7476270	7473439	F1074L/I1027T	{"CFTR": {"F1074L": 1, "I1027T": 1}}	\N
7476271	7473439	H939R/Q1291R	{"CFTR": {"H939R": 1, "Q1291R": 1}}	\N
7476272	7473439	R117C/R347H	{"CFTR": {"R117C": 1, "R347H": 1}}	\N
7476273	7473439	E56K/G314E	{"CFTR": {"E56K": 1, "G314E": 1}}	\N
7476274	7473439	M952T/S1251N	{"CFTR": {"M952T": 1, "S1251N": 1}}	\N
7476275	7473439	R117C/R347L	{"CFTR": {"R117C": 1, "R347L": 1}}	\N
7476276	7473439	I148T/L1480P	{"CFTR": {"I148T": 1, "L1480P": 1}}	\N
7476277	7473439	L1480P/M952I(G>A)	{"CFTR": {"L1480P": 1, "M952I(G>A)": 1}}	\N
7476278	7473439	D1152H/S737F	{"CFTR": {"S737F": 1, "D1152H": 1}}	\N
7476279	7473439	M952I(G>C)/S945L	{"CFTR": {"S945L": 1, "M952I(G>C)": 1}}	\N
7476280	7473439	A455E/M952I(G>A)	{"CFTR": {"A455E": 1, "M952I(G>A)": 1}}	\N
7476281	7473439	A349V/R1162L	{"CFTR": {"A349V": 1, "R1162L": 1}}	\N
7476282	7473439	E822K/I807M	{"CFTR": {"E822K": 1, "I807M": 1}}	\N
7476283	7473439	R75Q/S977F	{"CFTR": {"R75Q": 1, "S977F": 1}}	\N
7476284	7473439	Q359R/Q359R	{"CFTR": {"Q359R": 2}}	\N
7476285	7473439	R117L/W1282R	{"CFTR": {"R117L": 1, "W1282R": 1}}	\N
7476286	7473439	E822K/S1159F	{"CFTR": {"E822K": 1, "S1159F": 1}}	\N
7476287	7473439	G1249R(G>C)/R668C	{"CFTR": {"R668C": 1, "G1249R(G>C)": 1}}	\N
7476288	7473439	H1375P/L997F(G>C)	{"CFTR": {"H1375P": 1, "L997F(G>C)": 1}}	\N
7476289	7473439	E56K/V754M	{"CFTR": {"E56K": 1, "V754M": 1}}	\N
7476290	7473439	G1244E/L997F(G>C)	{"CFTR": {"G1244E": 1, "L997F(G>C)": 1}}	\N
7476291	7473439	A234D/E56K	{"CFTR": {"E56K": 1, "A234D": 1}}	\N
7476292	7473439	F508C,S1251N/K1060T	{"CFTR": {"K1060T": 1, "F508C,S1251N": 1}}	\N
7476293	7473439	3849+10kbC->T/K1060T	{"CFTR": {"K1060T": 1, "3849+10kbC->T": 1}}	\N
7476294	7473439	711+3A->G/G1249R(G>C)	{"CFTR": {"711+3A->G": 1, "G1249R(G>C)": 1}}	\N
7476295	7473439	A234D/I175V	{"CFTR": {"A234D": 1, "I175V": 1}}	\N
7476296	7473439	G576A/Y1014C	{"CFTR": {"G576A": 1, "Y1014C": 1}}	\N
7476297	7473439	D579G/R74W	{"CFTR": {"R74W": 1, "D579G": 1}}	\N
7476298	7473439	Q359R/R117H	{"CFTR": {"Q359R": 1, "R117H": 1}}	\N
7476299	7473439	F1052V/Q359R	{"CFTR": {"Q359R": 1, "F1052V": 1}}	\N
7476300	7473439	G1249R(G>A)/L1480P	{"CFTR": {"L1480P": 1, "G1249R(G>A)": 1}}	\N
7476301	7473439	Q359R/R117L	{"CFTR": {"Q359R": 1, "R117L": 1}}	\N
7476302	7473439	R352Q/S589N	{"CFTR": {"R352Q": 1, "S589N": 1}}	\N
7476303	7473439	R1162L/S549R(T>G)	{"CFTR": {"R1162L": 1, "S549R(T>G)": 1}}	\N
7476304	7473439	Q359R/R117C	{"CFTR": {"Q359R": 1, "R117C": 1}}	\N
7476305	7473439	P67L/Q1291R	{"CFTR": {"P67L": 1, "Q1291R": 1}}	\N
7476306	7473439	Q359R/R117G	{"CFTR": {"Q359R": 1, "R117G": 1}}	\N
7476307	7473439	G576A/L997F(G>C)	{"CFTR": {"G576A": 1, "L997F(G>C)": 1}}	\N
7476308	7473439	L1480P/S549R(T>G)	{"CFTR": {"L1480P": 1, "S549R(T>G)": 1}}	\N
7476309	7473439	R74W/R1070Q	{"CFTR": {"R74W": 1, "R1070Q": 1}}	\N
7476310	7473439	R74W/R1070W	{"CFTR": {"R74W": 1, "R1070W": 1}}	\N
7476311	7473439	G1069R/Q1291R	{"CFTR": {"G1069R": 1, "Q1291R": 1}}	\N
7476312	7473439	A349V/Q237H	{"CFTR": {"A349V": 1, "Q237H": 1}}	\N
7476313	7473439	D1270N/R553Q	{"CFTR": {"R553Q": 1, "D1270N": 1}}	\N
7476314	7473439	L997F(G>C)/S549N	{"CFTR": {"S549N": 1, "L997F(G>C)": 1}}	\N
7476315	7473439	A349V/Q237E	{"CFTR": {"A349V": 1, "Q237E": 1}}	\N
7476316	7473439	L967S/L997F(G>C)	{"CFTR": {"L967S": 1, "L997F(G>C)": 1}}	\N
7476317	7473439	G194R(G>C)/S977F	{"CFTR": {"S977F": 1, "G194R(G>C)": 1}}	\N
7476318	7473439	D1270N/R117L	{"CFTR": {"R117L": 1, "D1270N": 1}}	\N
7476319	7473439	E56K/S549R(A>C)	{"CFTR": {"E56K": 1, "S549R(A>C)": 1}}	\N
7476320	7473439	F508C/R668C	{"CFTR": {"F508C": 1, "R668C": 1}}	\N
7476321	7473439	G178E/R1070Q	{"CFTR": {"G178E": 1, "R1070Q": 1}}	\N
7476322	7473439	L967S/V232D	{"CFTR": {"L967S": 1, "V232D": 1}}	\N
7476323	7473439	D1270N/R117P	{"CFTR": {"R117P": 1, "D1270N": 1}}	\N
7476324	7473439	S1159P/Y1014C	{"CFTR": {"S1159P": 1, "Y1014C": 1}}	\N
7476325	7473439	G1244E/M952T	{"CFTR": {"M952T": 1, "G1244E": 1}}	\N
7476326	7473439	D1270N/R117G	{"CFTR": {"R117G": 1, "D1270N": 1}}	\N
7476327	7473439	R553Q/S977F	{"CFTR": {"R553Q": 1, "S977F": 1}}	\N
7476328	7473439	D1270N/R117H	{"CFTR": {"R117H": 1, "D1270N": 1}}	\N
7476329	7473439	D1152H/S1159P	{"CFTR": {"D1152H": 1, "S1159P": 1}}	\N
7476330	7473439	D1152H/S1159F	{"CFTR": {"D1152H": 1, "S1159F": 1}}	\N
7476331	7473439	D1270N/R117C	{"CFTR": {"R117C": 1, "D1270N": 1}}	\N
7476332	7473439	3272-26A->G/K1060T	{"CFTR": {"K1060T": 1, "3272-26A->G": 1}}	\N
7476333	7473439	M952I(G>T)/S945L	{"CFTR": {"S945L": 1, "M952I(G>T)": 1}}	\N
7476334	7473439	I807M/W1282R	{"CFTR": {"I807M": 1, "W1282R": 1}}	\N
7476335	7473439	E831X/G1249R(G>C)	{"CFTR": {"E831X": 1, "G1249R(G>C)": 1}}	\N
7476336	7473439	G178E/R1070W	{"CFTR": {"G178E": 1, "R1070W": 1}}	\N
7476337	7473439	L967S/S737F	{"CFTR": {"L967S": 1, "S737F": 1}}	\N
7476338	7473439	R117C/R1070Q	{"CFTR": {"R117C": 1, "R1070Q": 1}}	\N
7476339	7473439	G1249R(G>A)/Q359R	{"CFTR": {"Q359R": 1, "G1249R(G>A)": 1}}	\N
7476340	7473439	F311L/Q1291R	{"CFTR": {"F311L": 1, "Q1291R": 1}}	\N
7476341	7473439	G551D/I807M	{"CFTR": {"G551D": 1, "I807M": 1}}	\N
7476342	7473439	E56K/G576A	{"CFTR": {"E56K": 1, "G576A": 1}}	\N
7476343	7473439	A1067T/S737F	{"CFTR": {"S737F": 1, "A1067T": 1}}	\N
7476344	7473439	L967S/T1053I	{"CFTR": {"L967S": 1, "T1053I": 1}}	\N
7476345	7473439	G314E/I1139V	{"CFTR": {"G314E": 1, "I1139V": 1}}	\N
7476346	7473439	G194R(G>A)/R668C	{"CFTR": {"R668C": 1, "G194R(G>A)": 1}}	\N
7476347	7473439	R117C/R1070W	{"CFTR": {"R117C": 1, "R1070W": 1}}	\N
7476348	7473439	D1152H/I807M	{"CFTR": {"I807M": 1, "D1152H": 1}}	\N
7476349	7473439	L206W/M952T	{"CFTR": {"L206W": 1, "M952T": 1}}	\N
7476350	7473439	G1249R(G>C)/S737F	{"CFTR": {"S737F": 1, "G1249R(G>C)": 1}}	\N
7476351	7473439	G314E/H1375P	{"CFTR": {"G314E": 1, "H1375P": 1}}	\N
7476352	7473439	F1052V/H939R	{"CFTR": {"H939R": 1, "F1052V": 1}}	\N
7476353	7473439	R117H/W1282R	{"CFTR": {"R117H": 1, "W1282R": 1}}	\N
7476354	7473439	R170H/W1282R	{"CFTR": {"R170H": 1, "W1282R": 1}}	\N
7476355	7473439	F311del/P67L	{"CFTR": {"P67L": 1, "F311del": 1}}	\N
7476356	7473439	E193K/G1349D	{"CFTR": {"E193K": 1, "G1349D": 1}}	\N
7476357	7473439	L997F(G>T)/S549N	{"CFTR": {"S549N": 1, "L997F(G>T)": 1}}	\N
7476358	7473439	S549R(T>G)/Y1032C	{"CFTR": {"Y1032C": 1, "S549R(T>G)": 1}}	\N
7476359	7473439	A120T/F508C,S1251N	{"CFTR": {"A120T": 1, "F508C,S1251N": 1}}	\N
7476360	7473439	L320V/S977F	{"CFTR": {"L320V": 1, "S977F": 1}}	\N
7476361	7473439	D192G/R1162L	{"CFTR": {"D192G": 1, "R1162L": 1}}	\N
7476362	7473439	A120T/L1480P	{"CFTR": {"A120T": 1, "L1480P": 1}}	\N
7476363	7473439	A349V/Y1032C	{"CFTR": {"A349V": 1, "Y1032C": 1}}	\N
7476364	7473439	E831X/L206W	{"CFTR": {"E831X": 1, "L206W": 1}}	\N
7476365	7473439	E831X/Y1032C	{"CFTR": {"E831X": 1, "Y1032C": 1}}	\N
7476366	7473439	R117P/S977F	{"CFTR": {"R117P": 1, "S977F": 1}}	\N
7476367	7473439	Q359R/R553Q	{"CFTR": {"Q359R": 1, "R553Q": 1}}	\N
7476368	7473439	R933G/Y1014C	{"CFTR": {"R933G": 1, "Y1014C": 1}}	\N
7476369	7473439	D579G/R75Q	{"CFTR": {"R75Q": 1, "D579G": 1}}	\N
7476370	7473439	Q359R/R117P	{"CFTR": {"Q359R": 1, "R117P": 1}}	\N
7476371	7473439	I807M/R1070W	{"CFTR": {"I807M": 1, "R1070W": 1}}	\N
7476372	7473439	L997F(G>T)/R347L	{"CFTR": {"R347L": 1, "L997F(G>T)": 1}}	\N
7476373	7473439	I807M/R1070Q	{"CFTR": {"I807M": 1, "R1070Q": 1}}	\N
7476374	7473439	711+3A->G/R1162L	{"CFTR": {"R1162L": 1, "711+3A->G": 1}}	\N
7476375	7473439	K1060T/R75Q	{"CFTR": {"R75Q": 1, "K1060T": 1}}	\N
7476376	7473439	R117G/W1282R	{"CFTR": {"R117G": 1, "W1282R": 1}}	\N
7476377	7473439	R1162L/S1255P	{"CFTR": {"R1162L": 1, "S1255P": 1}}	\N
7476378	7473439	711+3A->G/Q237E	{"CFTR": {"Q237E": 1, "711+3A->G": 1}}	\N
7476379	7473439	G551S/R170H	{"CFTR": {"G551S": 1, "R170H": 1}}	\N
7476380	7473439	711+3A->G/Q237H	{"CFTR": {"Q237H": 1, "711+3A->G": 1}}	\N
7476381	7473439	F508C/S737F	{"CFTR": {"F508C": 1, "S737F": 1}}	\N
7476382	7473439	A1067T/V232D	{"CFTR": {"V232D": 1, "A1067T": 1}}	\N
7476383	7473439	G551D/S1159P	{"CFTR": {"G551D": 1, "S1159P": 1}}	\N
7476384	7473439	L997F(G>T)/R347H	{"CFTR": {"R347H": 1, "L997F(G>T)": 1}}	\N
7476385	7473439	711+3A->G/S589N	{"CFTR": {"S589N": 1, "711+3A->G": 1}}	\N
7476386	7473439	E831X/R1162L	{"CFTR": {"E831X": 1, "R1162L": 1}}	\N
7476387	7473439	G551S/G970D	{"CFTR": {"G551S": 1, "G970D": 1}}	\N
7476388	7473439	H939R/I1139V	{"CFTR": {"H939R": 1, "I1139V": 1}}	\N
7476389	7473439	G194R(G>A)/V232D	{"CFTR": {"V232D": 1, "G194R(G>A)": 1}}	\N
7476390	7473439	F1052V/R117C	{"CFTR": {"R117C": 1, "F1052V": 1}}	\N
7476391	7473439	I175V/K1060T	{"CFTR": {"I175V": 1, "K1060T": 1}}	\N
7476392	7473439	F1052V/R117G	{"CFTR": {"R117G": 1, "F1052V": 1}}	\N
7476393	7473439	R117H/R1070W	{"CFTR": {"R117H": 1, "R1070W": 1}}	\N
7476394	7473439	3272-26A->G/E193K	{"CFTR": {"E193K": 1, "3272-26A->G": 1}}	\N
7476395	7473439	R117H/R1070Q	{"CFTR": {"R117H": 1, "R1070Q": 1}}	\N
7476396	7473439	F1074L/S977F	{"CFTR": {"S977F": 1, "F1074L": 1}}	\N
7476397	7473439	K1060T/R74W	{"CFTR": {"R74W": 1, "K1060T": 1}}	\N
7476398	7473439	D1270N/Q359R	{"CFTR": {"Q359R": 1, "D1270N": 1}}	\N
7476399	7473439	F1052V/R117P	{"CFTR": {"R117P": 1, "F1052V": 1}}	\N
7476400	7473439	F311del/V754M	{"CFTR": {"V754M": 1, "F311del": 1}}	\N
7476401	7473439	F1052V/R553Q	{"CFTR": {"R553Q": 1, "F1052V": 1}}	\N
7476402	7473439	F1052V/R117H	{"CFTR": {"R117H": 1, "F1052V": 1}}	\N
7476403	7473439	G551D/R792G	{"CFTR": {"G551D": 1, "R792G": 1}}	\N
7476404	7473439	D110H/F311del	{"CFTR": {"D110H": 1, "F311del": 1}}	\N
7476405	7473439	E822K/R170H	{"CFTR": {"E822K": 1, "R170H": 1}}	\N
7476406	7473439	F1052V/R117L	{"CFTR": {"R117L": 1, "F1052V": 1}}	\N
7476407	7473439	R347L/S945L	{"CFTR": {"R347L": 1, "S945L": 1}}	\N
7476408	7473439	E831X/S549R(A>C)	{"CFTR": {"E831X": 1, "S549R(A>C)": 1}}	\N
7476409	7473439	G1349D/S977F	{"CFTR": {"S977F": 1, "G1349D": 1}}	\N
7476410	7473439	R117G/R1070W	{"CFTR": {"R117G": 1, "R1070W": 1}}	\N
7476411	7473439	R352Q/S549R(A>C)	{"CFTR": {"R352Q": 1, "S549R(A>C)": 1}}	\N
7476412	7473439	R74W/W1282R	{"CFTR": {"R74W": 1, "W1282R": 1}}	\N
7476413	7473439	R933G/V1293G	{"CFTR": {"R933G": 1, "V1293G": 1}}	\N
7476414	7473439	711+3A->G/Y1032C	{"CFTR": {"Y1032C": 1, "711+3A->G": 1}}	\N
7476415	7473439	I175V/S1255P	{"CFTR": {"I175V": 1, "S1255P": 1}}	\N
7476416	7473439	S1159P/V1293G	{"CFTR": {"S1159P": 1, "V1293G": 1}}	\N
7476417	7473439	R170H/R1070Q	{"CFTR": {"R170H": 1, "R1070Q": 1}}	\N
7476418	7473439	D579G/G1244E	{"CFTR": {"D579G": 1, "G1244E": 1}}	\N
7476419	7473439	R117G/R1070Q	{"CFTR": {"R117G": 1, "R1070Q": 1}}	\N
7476420	7473439	G1249R(G>C)/V232D	{"CFTR": {"V232D": 1, "G1249R(G>C)": 1}}	\N
7476421	7473439	G970D/R347H	{"CFTR": {"G970D": 1, "R347H": 1}}	\N
7476422	7473439	Q359R/T338I	{"CFTR": {"Q359R": 1, "T338I": 1}}	\N
7476423	7473439	711+3A->G/A349V	{"CFTR": {"A349V": 1, "711+3A->G": 1}}	\N
7476424	7473439	F1052V/R1162L	{"CFTR": {"F1052V": 1, "R1162L": 1}}	\N
7476425	7473439	R170H/R1070W	{"CFTR": {"R170H": 1, "R1070W": 1}}	\N
7476426	7473439	S549R(T>G)/S589N	{"CFTR": {"S589N": 1, "S549R(T>G)": 1}}	\N
7476427	7473439	G970D/R347L	{"CFTR": {"G970D": 1, "R347L": 1}}	\N
7476428	7473439	L967S/M152V	{"CFTR": {"L967S": 1, "M152V": 1}}	\N
7476429	7473439	L967S/R668C	{"CFTR": {"L967S": 1, "R668C": 1}}	\N
7476430	7473439	A455E/R933G	{"CFTR": {"A455E": 1, "R933G": 1}}	\N
7476431	7473439	E831X/S589N	{"CFTR": {"E831X": 1, "S589N": 1}}	\N
7476432	7473439	D579G/F508C	{"CFTR": {"D579G": 1, "F508C": 1}}	\N
7476433	7473439	D192G/E831X	{"CFTR": {"D192G": 1, "E831X": 1}}	\N
7476434	7473439	G178R/S977F	{"CFTR": {"G178R": 1, "S977F": 1}}	\N
7476435	7473439	Q237E/Q1291R	{"CFTR": {"Q237E": 1, "Q1291R": 1}}	\N
7476436	7473439	D110H/F311L	{"CFTR": {"D110H": 1, "F311L": 1}}	\N
7476437	7473439	G194R(G>A)/S737F	{"CFTR": {"S737F": 1, "G194R(G>A)": 1}}	\N
7476438	7473439	Q359R/R1283M	{"CFTR": {"Q359R": 1, "R1283M": 1}}	\N
7476439	7473439	R352Q/R1162L	{"CFTR": {"R352Q": 1, "R1162L": 1}}	\N
7476440	7473439	G551D/I148T	{"CFTR": {"G551D": 1, "I148T": 1}}	\N
7476441	7473439	L997F(G>C)/R347H	{"CFTR": {"R347H": 1, "L997F(G>C)": 1}}	\N
7476442	7473439	F311L/F311L	{"CFTR": {"F311L": 2}}	\N
7476443	7473439	D1270N/G551D	{"CFTR": {"G551D": 1, "D1270N": 1}}	\N
7476444	7473439	L997F(G>C)/R347L	{"CFTR": {"R347L": 1, "L997F(G>C)": 1}}	\N
7476445	7473439	D1270N/V1293G	{"CFTR": {"D1270N": 1, "V1293G": 1}}	\N
7476446	7473439	D192G/G1249R(G>C)	{"CFTR": {"D192G": 1, "G1249R(G>C)": 1}}	\N
7476447	7473439	E193K/L967S	{"CFTR": {"E193K": 1, "L967S": 1}}	\N
7476448	7473439	711+3A->G/2789+5G->A	{"CFTR": {"711+3A->G": 1, "2789+5G->A": 1}}	\N
7476449	7473439	A120T/L997F(G>T)	{"CFTR": {"A120T": 1, "L997F(G>T)": 1}}	\N
7476450	7473439	R117C/W1282R	{"CFTR": {"R117C": 1, "W1282R": 1}}	\N
7476451	7473439	F508C/V232D	{"CFTR": {"F508C": 1, "V232D": 1}}	\N
7476452	7473439	D1270N/G551S	{"CFTR": {"G551S": 1, "D1270N": 1}}	\N
7476453	7473439	A234D/S945L	{"CFTR": {"A234D": 1, "S945L": 1}}	\N
7476454	7473439	3272-26A->G/A234D	{"CFTR": {"A234D": 1, "3272-26A->G": 1}}	\N
7476455	7473439	R1070W/S549N	{"CFTR": {"S549N": 1, "R1070W": 1}}	\N
7476456	7473439	S589N/V754M	{"CFTR": {"S589N": 1, "V754M": 1}}	\N
7476457	7473439	L320V/R347H	{"CFTR": {"L320V": 1, "R347H": 1}}	\N
7476458	7473439	R792G/S549N	{"CFTR": {"R792G": 1, "S549N": 1}}	\N
7476459	7473439	F311del/G1249R(G>C)	{"CFTR": {"F311del": 1, "G1249R(G>C)": 1}}	\N
7476460	7473439	G194R(G>C)/R347L	{"CFTR": {"R347L": 1, "G194R(G>C)": 1}}	\N
7476461	7473439	L320V/R347L	{"CFTR": {"L320V": 1, "R347L": 1}}	\N
7476462	7473439	A455E/I1139V	{"CFTR": {"A455E": 1, "I1139V": 1}}	\N
7476463	7473439	F508C/R792G	{"CFTR": {"F508C": 1, "R792G": 1}}	\N
7476464	7473439	G551S/R352Q	{"CFTR": {"G551S": 1, "R352Q": 1}}	\N
7476465	7473439	E193K/S1251N	{"CFTR": {"E193K": 1, "S1251N": 1}}	\N
7476466	7473439	E56K/L967S	{"CFTR": {"E56K": 1, "L967S": 1}}	\N
7476467	7473439	L1480P/M952I(G>T)	{"CFTR": {"L1480P": 1, "M952I(G>T)": 1}}	\N
7476468	7473439	A455E/M952I(G>T)	{"CFTR": {"A455E": 1, "M952I(G>T)": 1}}	\N
7476469	7473439	H1375P/M152V	{"CFTR": {"M152V": 1, "H1375P": 1}}	\N
7476470	7473439	G178E/R74W	{"CFTR": {"R74W": 1, "G178E": 1}}	\N
7476471	7473439	G194R(G>C)/R347H	{"CFTR": {"R347H": 1, "G194R(G>C)": 1}}	\N
7476472	7473439	M952I(G>C)/Q237E	{"CFTR": {"Q237E": 1, "M952I(G>C)": 1}}	\N
7476473	7473439	M952I(G>C)/Q237H	{"CFTR": {"Q237H": 1, "M952I(G>C)": 1}}	\N
7476474	7473439	G1244E/S737F	{"CFTR": {"S737F": 1, "G1244E": 1}}	\N
7476475	7473439	D1152H/G970D	{"CFTR": {"G970D": 1, "D1152H": 1}}	\N
7476476	7473439	A234D/G314E	{"CFTR": {"A234D": 1, "G314E": 1}}	\N
7476477	7473439	F1052V/S589N	{"CFTR": {"S589N": 1, "F1052V": 1}}	\N
7476478	7473439	F1074L/G194R(G>A)	{"CFTR": {"F1074L": 1, "G194R(G>A)": 1}}	\N
7476479	7473439	I1139V/P67L	{"CFTR": {"P67L": 1, "I1139V": 1}}	\N
7476480	7473439	Q1291R/V562I	{"CFTR": {"V562I": 1, "Q1291R": 1}}	\N
7476481	7473439	S1251N/V754M	{"CFTR": {"V754M": 1, "S1251N": 1}}	\N
7476482	7473439	F1074L/S549N	{"CFTR": {"S549N": 1, "F1074L": 1}}	\N
7476483	7473439	H1375P/S737F	{"CFTR": {"S737F": 1, "H1375P": 1}}	\N
7476484	7473439	A455E/V754M	{"CFTR": {"A455E": 1, "V754M": 1}}	\N
7476485	7473439	M152V/S589N	{"CFTR": {"M152V": 1, "S589N": 1}}	\N
7476486	7473439	F1074L/G178R	{"CFTR": {"G178R": 1, "F1074L": 1}}	\N
7476487	7473439	G178E/R75Q	{"CFTR": {"R75Q": 1, "G178E": 1}}	\N
7476488	7473439	A120T/L320V	{"CFTR": {"A120T": 1, "L320V": 1}}	\N
7476489	7473439	A349V/V562I	{"CFTR": {"A349V": 1, "V562I": 1}}	\N
7476490	7473439	F311del/Y1032C	{"CFTR": {"Y1032C": 1, "F311del": 1}}	\N
7476491	7473439	711+3A->G/G576A	{"CFTR": {"G576A": 1, "711+3A->G": 1}}	\N
7476492	7473439	G1244E/M152V	{"CFTR": {"M152V": 1, "G1244E": 1}}	\N
7476493	7473439	G1069R/H1375P	{"CFTR": {"G1069R": 1, "H1375P": 1}}	\N
7476494	7473439	F1074L/G178E	{"CFTR": {"G178E": 1, "F1074L": 1}}	\N
7476495	7473439	E822K/M152V	{"CFTR": {"E822K": 1, "M152V": 1}}	\N
7476496	7473439	R347H/S945L	{"CFTR": {"R347H": 1, "S945L": 1}}	\N
7476497	7473439	F508C/S1159F	{"CFTR": {"F508C": 1, "S1159F": 1}}	\N
7476498	7473439	I175V/S1251N	{"CFTR": {"I175V": 1, "S1251N": 1}}	\N
7476499	7473439	3272-26A->G/3272-26A->G	{"CFTR": {"3272-26A->G": 2}}	\N
7476500	7473439	G551S/S1159P	{"CFTR": {"G551S": 1, "S1159P": 1}}	\N
7476501	7473439	2789+5G->A/R75Q	{"CFTR": {"R75Q": 1, "2789+5G->A": 1}}	\N
7476502	7473439	I1027T/L997F(G>C)	{"CFTR": {"I1027T": 1, "L997F(G>C)": 1}}	\N
7476503	7473439	H939R/L967S	{"CFTR": {"H939R": 1, "L967S": 1}}	\N
7476504	7473439	G551D/R668C	{"CFTR": {"G551D": 1, "R668C": 1}}	\N
7476505	7473439	F1052V/L206W	{"CFTR": {"L206W": 1, "F1052V": 1}}	\N
7476506	7473439	F508C/S1159P	{"CFTR": {"F508C": 1, "S1159P": 1}}	\N
7476507	7473439	G551S/S1159F	{"CFTR": {"G551S": 1, "S1159F": 1}}	\N
7476508	7473439	G970D/I1027T	{"CFTR": {"G970D": 1, "I1027T": 1}}	\N
7476509	7473439	E822K/S737F	{"CFTR": {"E822K": 1, "S737F": 1}}	\N
7476510	7473439	F1074L/G1244E	{"CFTR": {"F1074L": 1, "G1244E": 1}}	\N
7476511	7473439	D110H/Q1291R	{"CFTR": {"D110H": 1, "Q1291R": 1}}	\N
7476512	7473439	D579G/I1027T	{"CFTR": {"D579G": 1, "I1027T": 1}}	\N
7476513	7473439	I1139V/R1162L	{"CFTR": {"I1139V": 1, "R1162L": 1}}	\N
7476514	7473439	D110E/F311del	{"CFTR": {"D110E": 1, "F311del": 1}}	\N
7476515	7473439	F508C/I807M	{"CFTR": {"F508C": 1, "I807M": 1}}	\N
7476516	7473439	G194R(G>C)/G1069R	{"CFTR": {"G1069R": 1, "G194R(G>C)": 1}}	\N
7476517	7473439	G178E/R347L	{"CFTR": {"G178E": 1, "R347L": 1}}	\N
7476518	7473439	G178E/R347H	{"CFTR": {"G178E": 1, "R347H": 1}}	\N
7476519	7473439	E831X/V754M	{"CFTR": {"E831X": 1, "V754M": 1}}	\N
7476520	7473439	L1480P/V754M	{"CFTR": {"V754M": 1, "L1480P": 1}}	\N
7476521	7473439	D924N/E193K	{"CFTR": {"D924N": 1, "E193K": 1}}	\N
7476522	7473439	M952I(G>T)/Q237E	{"CFTR": {"Q237E": 1, "M952I(G>T)": 1}}	\N
7476523	7473439	3849+10kbC->T/F311del	{"CFTR": {"F311del": 1, "3849+10kbC->T": 1}}	\N
7476524	7473439	L997F(G>T)/R170H	{"CFTR": {"R170H": 1, "L997F(G>T)": 1}}	\N
7476525	7473439	E822K/V232D	{"CFTR": {"E822K": 1, "V232D": 1}}	\N
7476526	7473439	G970D/R1070W	{"CFTR": {"G970D": 1, "R1070W": 1}}	\N
7476527	7473439	H1375P/Y1014C	{"CFTR": {"H1375P": 1, "Y1014C": 1}}	\N
7476528	7473439	R1070W/W1282R	{"CFTR": {"R1070W": 1, "W1282R": 1}}	\N
7476529	7473439	R1070Q/R1070Q	{"CFTR": {"R1070Q": 2}}	\N
7476530	7473439	D192G/S549R(A>C)	{"CFTR": {"D192G": 1, "S549R(A>C)": 1}}	\N
7476531	7473439	G970D/R1070Q	{"CFTR": {"G970D": 1, "R1070Q": 1}}	\N
7476532	7473439	G1244E/Y1014C	{"CFTR": {"G1244E": 1, "Y1014C": 1}}	\N
7476533	7473439	M952I(G>T)/Q237H	{"CFTR": {"Q237H": 1, "M952I(G>T)": 1}}	\N
7476534	7473439	G1069R/S1255P	{"CFTR": {"G1069R": 1, "S1255P": 1}}	\N
7476535	7473439	R1070Q/R1070W	{"CFTR": {"R1070Q": 1, "R1070W": 1}}	\N
7476536	7473439	F1052V/I175V	{"CFTR": {"I175V": 1, "F1052V": 1}}	\N
7476537	7473439	R170H/S977F	{"CFTR": {"R170H": 1, "S977F": 1}}	\N
7476538	7473439	D110E/E193K	{"CFTR": {"D110E": 1, "E193K": 1}}	\N
7476539	7473439	E831X/G314E	{"CFTR": {"E831X": 1, "G314E": 1}}	\N
7476540	7473439	F311L/S1255P	{"CFTR": {"F311L": 1, "S1255P": 1}}	\N
7476541	7473439	711+3A->G/S549R(A>C)	{"CFTR": {"711+3A->G": 1, "S549R(A>C)": 1}}	\N
7476542	7473439	F1052V/F1074L	{"CFTR": {"F1052V": 1, "F1074L": 1}}	\N
7476543	7473439	R117H/S977F	{"CFTR": {"R117H": 1, "S977F": 1}}	\N
7476544	7473439	R74W/R170H	{"CFTR": {"R74W": 1, "R170H": 1}}	\N
7476545	7473439	D192G/V562I	{"CFTR": {"D192G": 1, "V562I": 1}}	\N
7476546	7473439	F311L/S1251N	{"CFTR": {"F311L": 1, "S1251N": 1}}	\N
7476547	7473439	G970D/R170H	{"CFTR": {"G970D": 1, "R170H": 1}}	\N
7476548	7473439	E56K/E831X	{"CFTR": {"E56K": 1, "E831X": 1}}	\N
7476549	7473439	G970D/G970D	{"CFTR": {"G970D": 2}}	\N
7476550	7473439	2789+5G->A/G194R(G>A)	{"CFTR": {"2789+5G->A": 1, "G194R(G>A)": 1}}	\N
7476551	7473439	G1244E/R668C	{"CFTR": {"R668C": 1, "G1244E": 1}}	\N
7476552	7473439	L997F(G>C)/W1282R	{"CFTR": {"W1282R": 1, "L997F(G>C)": 1}}	\N
7476553	7473439	R1283M/Y1032C	{"CFTR": {"R1283M": 1, "Y1032C": 1}}	\N
7476554	7473439	G194R(G>C)/R74W	{"CFTR": {"R74W": 1, "G194R(G>C)": 1}}	\N
7476555	7473439	H939R/S549R(T>G)	{"CFTR": {"H939R": 1, "S549R(T>G)": 1}}	\N
7476556	7473439	L1480P/P67L	{"CFTR": {"P67L": 1, "L1480P": 1}}	\N
7476557	7473439	R933G/R1283M	{"CFTR": {"R933G": 1, "R1283M": 1}}	\N
7476558	7473439	E831X/P67L	{"CFTR": {"P67L": 1, "E831X": 1}}	\N
7476559	7473439	G551S/I807M	{"CFTR": {"G551S": 1, "I807M": 1}}	\N
7476560	7473439	A234D/G576A	{"CFTR": {"A234D": 1, "G576A": 1}}	\N
7476561	7473439	F311del/R1162L	{"CFTR": {"R1162L": 1, "F311del": 1}}	\N
7476562	7473439	G1249R(G>A)/L997F(G>T)	{"CFTR": {"L997F(G>T)": 1, "G1249R(G>A)": 1}}	\N
7476563	7473439	G551S/R1070W	{"CFTR": {"G551S": 1, "R1070W": 1}}	\N
7476564	7473439	G194R(G>C)/G1244E	{"CFTR": {"G1244E": 1, "G194R(G>C)": 1}}	\N
7476565	7473439	A120T/D1152H	{"CFTR": {"A120T": 1, "D1152H": 1}}	\N
7476566	7473439	A455E/P67L	{"CFTR": {"P67L": 1, "A455E": 1}}	\N
7476567	7473439	F1074L/R347H	{"CFTR": {"R347H": 1, "F1074L": 1}}	\N
7476568	7473439	R347H/S549R(T>G)	{"CFTR": {"R347H": 1, "S549R(T>G)": 1}}	\N
7476569	7473439	G1069R/K1060T	{"CFTR": {"G1069R": 1, "K1060T": 1}}	\N
7476570	7473439	M952I(G>A)/S1255P	{"CFTR": {"S1255P": 1, "M952I(G>A)": 1}}	\N
7476571	7473439	711+3A->G/G314E	{"CFTR": {"G314E": 1, "711+3A->G": 1}}	\N
7476572	7473439	F1074L/R347L	{"CFTR": {"R347L": 1, "F1074L": 1}}	\N
7476573	7473439	H1375P/R668C	{"CFTR": {"R668C": 1, "H1375P": 1}}	\N
7476574	7473439	I148T/V562I	{"CFTR": {"I148T": 1, "V562I": 1}}	\N
7476575	7473439	G194R(G>C)/S549N	{"CFTR": {"S549N": 1, "G194R(G>C)": 1}}	\N
7476576	7473439	L206W/L997F(G>T)	{"CFTR": {"L206W": 1, "L997F(G>T)": 1}}	\N
7476577	7473439	L206W/L1480P	{"CFTR": {"L206W": 1, "L1480P": 1}}	\N
7476578	7473439	2789+5G->A/R74W	{"CFTR": {"R74W": 1, "2789+5G->A": 1}}	\N
