{"text_format":"3","workbook":"xls","n_sheets":2,"sheets":["TableS2","ScreeningPanelSources"],"not_rendered":{"external_links":1,"defined_names":2},"read":"whole","date_system":"1900","formulas":"cached_only"}

{"sheet":"TableS2","index":0,"n_rows":141,"n_cols":12,"rows_kept":141,"flags":["formulas_cached_only"]}
["Condition","Gene","cDNA","Protein Change","Report","Pos","Ref","Alt","ID","ClinVar Accession","ClinVar Clinical Significance","observed in CCGT database"]
["Cystic Fibrosis","CFTR","c.164+12T>C",null,"c.164+12T>C",117144429,"T","C","117144429_T_C","VCV000053302","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","N"]
["Cystic Fibrosis","CFTR","c.178G>T","p.E60X","p.E60X",117149101,"G","T","117149101_G_T","VCV000038730","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.200C>T","p.P67L","p.P67L",117149123,"C","T","117149123_C_T","VCV000053425","Pathogenic/Likely pathogenic, drug response(Last reviewed: Oct 18, 2020)","N"]
["Cystic Fibrosis","CFTR","c.223C>T","p.R75X","p.R75X",117149146,"C","T","117149146_C_T","VCV000048672","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.254G>A","p.G85E","p.G85E",117149177,"G","A","117149177_G_A","VCV000007143","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.262_263delTT","p.L88fs","p.L88fs",117149181,"CTT","C","117149181_CTT_C","VCV000007232","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.273+1G>A",null,"c.273+1G>A",117149197,"G","A","117149197_G_A","VCV000053549","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.273+3A>C",null,"c.273+3A>C",117149199,"A","C","117149199_A_C","VCV000035846","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.274-1G>A",null,"c.274-1G>A",117170952,"G","A","117170952_G_A","VCV000048680","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.274G>T","p.E92X","p.E92X",117170953,"G","T","117170953_G_T","VCV000007186","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.292C>T","p.Q98X","p.Q98X",117170971,"C","T","117170971_C_T","VCV000053600","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.293A>G","p.Q98R","p.Q98R",117170972,"A","G","117170972_A_G","VCV000053606","Pathogenic(Last reviewed: Dec 8, 2017)","N"]
["Cystic Fibrosis","CFTR","c.313delA","p.Y109fs","p.Y109fs",117170990,"GA","G","117170990_GA_G","VCV000048684","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.325_327delTATinsG",null,"c.325_327delTATinsG",117171004,"TAT","G","117171004_TAT_G","VCV000053696","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.346G>A","p.E116K","p.E116K",117171025,"G","A","117171025_G_A","VCV000053754","Pathogenic(Last reviewed: Sep 24, 2021)","N"]
["Cystic Fibrosis","CFTR","c.349C>T","p.R117C","p.R117C",117171028,"C","T","117171028_C_T","VCV000048688","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.350G>A","p.R117H","p.R117H",117171029,"G","A","117171029_G_A","VCV000007109","Pathogenic(Last reviewed: Mar 3, 2004)","Y"]
["Cystic Fibrosis","CFTR","c.366T>A","p.Y122X","p.Y122X",117171045,"T","A","117171045_T_A","VCV000038833","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.442delA","p.I148fs","p.I148fs",117171120,"CA","C","117171120_CA_C","VCV000053948","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.489+1G>T",null,"c.489+1G>T",117171169,"G","T","117171169_G_T","VCV000038799","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.531delT","p.I177fs","p.I177fs",117174369,"AT","A","117174369_AT_A","VCV000053991","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.532G>A","p.G178R","p.G178R",117174372,"G","A","117174372_G_A","VCV000048692","Pathogenic, drug response(Last reviewed: Mar 16, 2020)","N"]
["Cystic Fibrosis","CFTR","c.579+1G>T",null,"c.579+1G>T",117174420,"G","T","117174420_G_T","VCV000038494","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.579+5G>A",null,"c.579+5G>A",117174424,"G","A","117174424_G_A","VCV000054012","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.580-1G>T",null,"c.580-1G>T",117175301,"G","T","117175301_G_T","VCV000054014","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.617T>G","p.L206W","p.L206W",117175339,"T","G","117175339_T_G","VCV000007190","Pathogenic, drug response(Last reviewed: Oct 25, 2020)","N"]
["Cystic Fibrosis","CFTR","c.658C>T","p.Q220X","p.Q220X",117175380,"C","T","117175380_C_T","VCV000054036","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.803delA","p.N268fs","p.N268fs",117176657,"GA","G","117176657_GA_G","VCV000048700","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.805_806delAT","p.I269fs","p.I269fs",117176660,"AAT","A","117176660_AAT_A","VCV000007206","Pathogenic(Last reviewed: May 1, 1994)","N"]
["Cystic Fibrosis","CFTR","c.935_937delTCT","p.F312del","p.F312del",117180210,"CCTT","C","117180210_CCTT_C","VCV000048704","Pathogenic/Likely pathogenic(Last reviewed: Jan 6, 2021)","Y"]
["Cystic Fibrosis","CFTR","c.948delT","p.F316fs","p.F316fs",117180229,"CT","C","117180229_CT_C","VCV000007163","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.988G>T","p.G330X","p.G330X",117180272,"G","T","117180272_G_T","VCV000048708","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1000C>T","p.R334W","p.R334W",117180284,"C","T","117180284_C_T","VCV000007139","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.1001G>A","p.R334Q","p.R334Q",117180285,"G","A","117180285_G_A","VCV000053159","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","N"]
["Cystic Fibrosis","CFTR","c.1013C>T","p.T338I","p.T338I",117180297,"C","T","117180297_C_T","VCV000007193","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.1022_1023insTC","p.F342fs","p.F342fs",117180302,"A","ATC","117180302_A_ATC","VCV000007134","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1040G>A","p.R347H","p.R347H",117180324,"G","A","117180324_G_A","VCV000007110","Pathogenic(Last reviewed: Mar 3, 2004)","Y"]
["Cystic Fibrosis","CFTR","c.1040G>C","p.R347P","p.R347P",117180324,"G","C","117180324_G_C","VCV000007182","Pathogenic, drug response(Last reviewed: Dec 28, 2020)","N"]
["Cystic Fibrosis","CFTR","c.1052C>T","p.T351I","p.T351I",117180336,"C","T","117180336_C_T","VCV000495885","Uncertain significance(Last reviewed: Nov 12, 2018)","N"]
["Cystic Fibrosis","CFTR","c.1055G>A","p.R352Q","p.R352Q",117180339,"G","A","117180339_G_A","VCV000007198","Pathogenic, drug response(Last reviewed: Oct 31, 2020)","N"]
["Cystic Fibrosis","CFTR","c.1075_1079delCAAACinsAAAAA","p.Gln359_Thr360delinsLysLys","p.Gln359_Thr360delinsLysLys",117180359,"CAAAC","AAAAA","117180359_CAAAC_AAAAA","VCV000053180","Pathogenic(Last reviewed: Feb 23, 2021)","N"]
["Cystic Fibrosis","CFTR","c.1090T>C","p.S364P","p.S364P",117180374,"T","C","117180374_T_C","NA","NA","N"]
["Cystic Fibrosis","CFTR","c.1116+1G>A",null,"c.1116+1G>A",117180401,"G","A","117180401_G_A","VCV000053190","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1150G>T","p.E384X","p.E384X",117182103,"G","T","117182103_G_T","VCV000973863","Likely pathogenic(Last reviewed: May 22, 2019)","N"]
["Cystic Fibrosis","CFTR","c.1155_1156dupAT","p.N386fs","c.1155_1156dupAT",117182104,"A","AAT","117182104_A_AAT","VCV000487393","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1240C>T","p.Q414X","p.Q414X",117188725,"C","T","117188725_C_T","VCV000053222","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.1340delA",null,"c.1340delA",117188823,"CA","C","117188823_CA_C","VCV000053233","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1364C>A","p.A455E","p.A455E",117188849,"C","A","117188849_C_A","VCV000007111","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.1397C>A","p.S466X","p.S466X",117199522,"C","A","117199522_C_A","VCV000053244","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1397C>G","p.S466X","p.S466X",117199522,"C","G","117199522_C_G","VCV000035822","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.1400T>C","p.L467P","p.L467P",117199525,"T","C","117199525_T_C","VCV000035823","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1438G>T","p.G480C","p.G480C",117199563,"G","T","117199563_G_T","VCV000007187","Pathogenic/Likely pathogenic(Last reviewed: Aug 5, 2020)","N"]
["Cystic Fibrosis","CFTR","c.1466C>A","p.S489X","p.S489X",117199591,"C","A","117199591_C_A","VCV000053259","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1477C>T","p.Q493X","p.Q493X",117199602,"C","T","117199602_C_T","VCV000007107","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1519_1521delATC",null,"c.1519_1521delATC",117199640,"TATC","T","117199640_TATC_T","NA","NA","N"]
["Cystic Fibrosis","CFTR","c.1516A>G","p.I506V","p.I506V",117199641,"A","G","117199641_A_G","VCV000007131","Conflicting interpretations of pathogenicity(Last reviewed: May 18, 2021)","N"]
["Cystic Fibrosis","CFTR","c.1519A>G","p.I507V","p.I507V",117199644,"A","G","117199644_A_G","VCV000188863","Benign/Likely benign(Last reviewed: Dec 4, 2020)","N"]
["Cystic Fibrosis","CFTR","c.1521_1523delCTT","p.F508del","p.F508del",117199644,"ATCT","A","117199644_ATCT_A","VCV000007105","Pathogenic(Last reviewed: Mar 3, 2004)","Y"]
["Cystic Fibrosis","CFTR","c.1523T>G","p.F508C","p.F508C",117199648,"T","G","117199648_T_G","VCV000007126","Conflicting interpretations of pathogenicity(Last reviewed: Aug 23, 2021)","N"]
["Cystic Fibrosis","CFTR","c.1545_1546delTA","p.Tyr515_Arg516delinsTer","p.Tyr515_Arg516delinsTer",117199666,"AAT","A","117199666_AAT_A","VCV000007140","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1558G>T","p.V520F","p.V520F",117199683,"G","T","117199683_G_T","VCV000007150","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1572C>A","p.C524X","p.C524X",117199697,"C","A","117199697_C_A","VCV000007151","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.1585-1G>A",null,"c.1585-1G>A",117227792,"G","A","117227792_G_A","VCV000007112","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.1624G>T","p.G542X","p.G542X",117227832,"G","T","117227832_G_T","VCV000007115","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.1645A>C","p.S549R","p.S549R",117227853,"A","C","117227853_A_C","VCV000038733","Pathogenic, drug response(Last reviewed: Mar 5, 2020)","N"]
["Cystic Fibrosis","CFTR","c.1646G>A","p.S549N","p.S549N",117227854,"G","A","117227854_G_A","VCV000007116","Pathogenic, drug response(Last reviewed: Mar 26, 2021)","N"]
["Cystic Fibrosis","CFTR","c.1647T>G","p.S549R","p.S549R",117227855,"T","G","117227855_T_G","VCV000040190","Pathogenic, drug response(Last reviewed: Sep 30, 2020)","N"]
["Cystic Fibrosis","CFTR","c.1651G>A","p.G551S","p.G551S",117227859,"G","A","117227859_G_A","VCV000007142","Pathogenic/Likely pathogenic, drug response(Last reviewed: Dec 28, 2020)","N"]
["Cystic Fibrosis","CFTR","c.1652G>A","p.G551D","p.G551D",117227860,"G","A","117227860_G_A","VCV000007120","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.1654C>T","p.Q552X","p.Q552X",117227862,"C","T","117227862_C_T","VCV000007201","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1657C>T","p.R553X","p.R553X",117227865,"C","T","117227865_C_T","VCV000007122","Pathogenic(Last reviewed: Mar 3, 2004)","Y"]
["Cystic Fibrosis","CFTR","c.1675G>A","p.A559T","p.A559T",117227883,"G","A","117227883_G_A","VCV000007123","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1679G>C","p.R560T","p.R560T",117227887,"G","C","117227887_G_C","VCV000007113","Pathogenic(Last reviewed: Mar 3, 2004)","Y"]
["Cystic Fibrosis","CFTR","c.1680-1G>A",null,"c.1680-1G>A",117230406,"G","A","117230406_G_A","VCV000048681","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1687T>A","p.Y563N","p.Y563N",117230414,"T","A","117230414_T_A","VCV000007114","Pathogenic(Last reviewed: Dec 8, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1721C>A","p.P574H","p.P574H",117230448,"C","A","117230448_C_A","VCV000007119","Pathogenic(Last reviewed: Dec 8, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1753G>T","p.E585X","p.E585X",117230480,"G","T","117230480_G_T","VCV000053374","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1766+1G>A",null,"c.1766+1G>A",117230494,"G","A","117230494_G_A","VCV000007168","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.1766+3A>G",null,"c.1766+3A>G",117230496,"A","G","117230496_A_G","VCV000053379","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1766+5G>T",null,"c.1766+5G>T",117230498,"G","T","117230498_G_T","VCV000048685","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.1817_1900del84",null,"c.1817_1900del84",117232038,".",".","117232038_._.","NA","NA","N"]
["Cystic Fibrosis","CFTR","c.1865G>A","p.G622D","p.G622D",117232086,"G","A","117232086_G_A","VCV000035833","Conflicting interpretations of pathogenicity(Last reviewed: Jul 22, 2021)","Y"]
["Cystic Fibrosis","CFTR","c.1911delG","p.Q637fs","p.Q637fs",117232131,"AG","A","117232131_AG_A","VCV000035834","Pathogenic(Last reviewed: Sep 24, 2021)","N"]
["Cystic Fibrosis","CFTR","c.1923_1931delCTCAAAACTinsA","p.S641fs","p.S641fs",117232144,"CTCAAAACT","A","117232144_CTCAAAACT_A","VCV000038735","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.1976delA","p.N659fs","p.N659fs",117232194,"GA","G","117232194_GA_G","VCV000053418","not provided","N"]
["Cystic Fibrosis","CFTR","c.2012del",null,"c.2012del",117232231,"AT","A","117232231_AT_A","VCV000035836","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2052delA","p.K684fs","p.K684fs",117232266,"CA","C","117232266_CA_C","VCV000038493","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.2052dupA","p.Q685fs","p.Q685fs",117232266,"C","CA","117232266_C_CA","VCV000035838","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.2051_2052delAAinsG","p.K684fs","c.2051_2052delAAinsG",117232272,"AA","G","117232272_AA_G","VCV000035837","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2125C>T","p.R709X","p.R709X",117232346,"C","T","117232346_C_T","VCV000053440","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2128A>T","p.K710X","p.K710X",117232349,"A","T","117232349_A_T","VCV000007203","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2175dupA","p.E726fs","p.E726fs",117232394,"G","GA","117232394_G_GA","VCV000007185","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2215delG","p.V739fs","p.V739fs",117232435,"AG","A","117232435_AG_A","VCV000053455","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2290C>T","p.R764X","p.R764X",117232511,"C","T","117232511_C_T","VCV000053471","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.2453delT","p.L818fs","c.2453delT",117232672,"CT","C","117232672_CT_C","VCV000066102","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2490+1G>A",null,"c.2490+1G>A",117232712,"G","A","117232712_G_A","VCV000007175","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2657+2_2657+3insA",null,"c.2657+2_2657+3insA",117242919,"T","TA","117242919_T_TA","VCV000053536","Uncertain significance(Last reviewed: Apr 10, 2012)","N"]
["Cystic Fibrosis","CFTR","c.2657+5G>A",null,"c.2657+5G>A",117242922,"G","A","117242922_G_A","VCV000038497","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.2668C>T","p.Q890X","p.Q890X",117243596,"C","T","117243596_C_T","VCV000007204","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2735C>A","p.S912X","p.S912X",117243663,"C","A","117243663_C_A","VCV000053550","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2737_2738insG","p.Y913X","p.Y913X",117243665,"T","TG","117243665_T_TG","VCV000007149","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2834C>T","p.S945L","p.S945L",117243762,"C","T","117243762_C_T","VCV000053575","Pathogenic, drug response(Last reviewed: Jun 3, 2021)","Y"]
["Cystic Fibrosis","CFTR","c.2988G>A",null,"c.2988G>A",117246807,"G","A","117246807_G_A","VCV000035857","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.2988+1G>A",null,"c.2988+1G>A",117246808,"G","A","117246808_G_A","VCV000007224","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.3039delC","p.Y1014fs","c.3039delC",117250620,"AC","A","117250620_AC_A","VCV000053636","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3067_3072delATAGTG","p.Ile1023_Val1024del","p.Ile1023_Val1024del",117250646,"CAGTGAT","C","117250646_CAGTGAT_C","VCV000038480","Pathogenic(Last reviewed: Sep 24, 2021)","N"]
["Cystic Fibrosis","CFTR","c.3095A>G","p.Y1032C","p.Y1032C",117250679,"A","G","117250679_A_G","VCV000035861","Pathogenic/Likely pathogenic(Last reviewed: Aug 23, 2021)","N"]
["Cystic Fibrosis","CFTR","c.3124C>T","p.Q1042X","p.Q1042X",117250708,"C","T","117250708_C_T","VCV000053654","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3140-26A>G",null,"c.3140-26A>G",117251609,"A","G","117251609_A_G","VCV000035864","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.3181G>C","p.G1061R","p.G1061R",117251676,"G","C","117251676_G_C","VCV000053672","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3196C>T","p.R1066C","p.R1066C",117251691,"C","T","117251691_C_T","VCV000007162","Pathogenic(Last reviewed: Mar 17, 2017)","Y"]
["Cystic Fibrosis","CFTR","c.3197G>A","p.R1066H","p.R1066H",117251692,"G","A","117251692_G_A","VCV000007158","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3208C>T","p.R1070W","p.R1070W",117251703,"C","T","117251703_C_T","VCV000053685","drug response(Last reviewed: Mar 23, 2018)","N"]
["Cystic Fibrosis","CFTR","c.3230T>C","p.L1077P","p.L1077P",117251725,"T","C","117251725_T_C","VCV000053690","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3266G>A","p.W1089X","p.W1089X",117251761,"G","A","117251761_G_A","VCV000007194","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3276C>A","p.Y1092X","p.Y1092X",117251771,"C","A","117251771_C_A","VCV000038728","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3276C>G","p.Y1092X","p.Y1092X",117251771,"C","G","117251771_C_G","VCV000007211","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3302T>A","p.M1101K","p.M1101K",117251797,"T","A","117251797_T_A","VCV000039516","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3454G>C","p.D1152H","p.D1152H",117254753,"G","C","117254753_G_C","VCV000035867","drug response(Last reviewed: Mar 23, 2018)","N"]
["Cystic Fibrosis","CFTR","c.3468G>A",null,"c.3468G>A",117254767,"G","A","117254767_G_A","VCV000053750","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3472C>T","p.R1158X","p.R1158X",117267579,"C","T","117267579_C_T","VCV000007144","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3484C>T","p.R1162X","p.R1162X",117267591,"C","T","117267591_C_T","VCV000007137","Pathogenic(Last reviewed: Mar 3, 2004)","Y"]
["Cystic Fibrosis","CFTR","c.3528delC","p.K1177fs","p.K1177fs",117267633,"AC","A","117267633_AC_A","VCV000035868","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.3536_3539delCCAA","p.S1178X","p.S1178X",117267640,"C","A","117267640_C_A","VCV000370587","Likely pathogenic(Last reviewed: Mar 2, 2016)","N"]
["Cystic Fibrosis","CFTR","c.3587C>G","p.S1196X","p.S1196X",117267694,"C","G","117267694_C_G","VCV000048674","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3612G>A","p.W1204X","p.W1204X",117267719,"G","A","117267719_G_A","VCV000053779","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3659delC","p.T1220fs","p.T1220fs",117267765,"AC","A","117267765_AC_A","VCV000007124","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3712C>T","p.Q1238X","p.Q1238X",117267819,"C","T","117267819_C_T","VCV000007176","Pathogenic/Likely pathogenic(Last reviewed: Nov 12, 2019)","N"]
["Cystic Fibrosis","CFTR","c.3717+4A>G",null,"c.3717+4A>G",117267828,"A","G","117267828_A_G","VCV000007138","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3717+12191C>T",null,"c.3717+12191C>T",117280015,"C","T","117280015_C_T","VCV000007166","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.3731G>A","p.G1244E","p.G1244E",117282505,"G","A","117282505_G_A","VCV000053797","Pathogenic, drug response(Last reviewed: Aug 14, 2020)","N"]
["Cystic Fibrosis","CFTR","c.3744delA","p.K1250fs","p.K1250fs",117282517,"CA","C","117282517_CA_C","VCV000007231","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3752G>A","p.S1251N","p.S1251N",117282526,"G","A","117282526_G_A","VCV000007217","Pathogenic, drug response(Last reviewed: Apr 18, 2020)","N"]
["Cystic Fibrosis","CFTR","c.3764C>A","p.S1255X","p.S1255X",117282538,"C","A","117282538_C_A","VCV000007125","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3773dupT","p.L1258fs","c.3773dupT",117282541,"C","CT","117282541_C_CT","VCV000038726","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3846G>A","p.W1282X","p.W1282X",117282620,"G","A","117282620_G_A","VCV000007129","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.3873+2T>C",null,"c.3873+2T>C",117282649,"T","C","117282649_T_C","VCV000053828","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.3909C>G","p.N1303K","p.N1303K",117292931,"C","G","117292931_C_G","VCV000007136","Pathogenic(Last reviewed: Mar 3, 2004)","N"]
["Cystic Fibrosis","CFTR","c.4077_4080delTGTTinsAA","p.V1360fs","p.V1360fs",117304855,"TGTT","AA","117304855_TGTT_AA","VCV000053883","Pathogenic(Last reviewed: Mar 17, 2017)","N"]
["Cystic Fibrosis","CFTR","c.4111G>T","p.E1371X","p.E1371X",117304889,"G","T","117304889_G_T","VCV000053891","Pathogenic(Last reviewed: Mar 17, 2017)","N"]

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["Type","Access"]
["Clinical test","Mayo Clinic Laboraries, Test ID: CFP"]
["Clinical test","NCBI GTR000309224.3"]
["Pulication Article","DOI: 10.1002/humu.10041"]
["Pulication Article","DOI: 10.1097/01.GIM.0000031065.72493.BC"]