Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559500_117559508delCA2695208318CFTR,CFTR-AS1c.1429_1437del (p.Pro477_Glu479del)
c.*1143_*1151del (n.*1143_*1151del)
c.1246_1254del (p.Pro416_Glu418del)
c.1424_1432del (p.Ala475_Arg477del)
c.*1253_*1261del (n.*1253_*1261del)
c.1003_1011del (p.Pro335_Glu337del)
c.1339_1347del (p.Pro447_Glu449del)
c.1519_1527del (p.Pro507_Glu509del)
c.1186_1194del (p.Pro396_Glu398del)
n.221+1228_221+1236del
7g.117559501C>ACA10606584CFTR,CFTR-AS1c.1430C>A (p.Pro477His)
c.*1144C>A (n.*1144C>A)
c.1247C>A (p.Pro416His)
c.1425C>A (p.Ala475=)
c.*1254C>A (n.*1254C>A)
c.1004C>A (p.Pro335His)
c.1340C>A (p.Pro447His)
c.1520C>A (p.Pro507His)
c.1187C>A (p.Pro396His)
n.221+1232G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117559501C=CA1737384214CFTR,CFTR-AS1c.1430C= (p.Pro477=)
c.*1144C= (n.*1144C=)
c.1247C= (p.Pro416=)
c.1425C= (p.Ala475=)
c.*1254C= (n.*1254C=)
c.1004C= (p.Pro335=)
c.1340C= (p.Pro447=)
c.1520C= (p.Pro507=)
c.1187C= (p.Pro396=)
n.221+1232G=
7g.117559501C>GCA368984386CFTR,CFTR-AS1c.1430C>G (p.Pro477Arg)
c.*1144C>G (n.*1144C>G)
c.1247C>G (p.Pro416Arg)
c.1425C>G (p.Ala475=)
c.*1254C>G (n.*1254C>G)
c.1004C>G (p.Pro335Arg)
c.1340C>G (p.Pro447Arg)
c.1520C>G (p.Pro507Arg)
c.1187C>G (p.Pro396Arg)
n.221+1232G>C
7g.117559501C>TCA368984387CFTR,CFTR-AS1c.1430C>T (p.Pro477Leu)
c.*1144C>T (n.*1144C>T)
c.1247C>T (p.Pro416Leu)
c.1425C>T (p.Ala475=)
c.*1254C>T (n.*1254C>T)
c.1004C>T (p.Pro335Leu)
c.1340C>T (p.Pro447Leu)
c.1520C>T (p.Pro507Leu)
c.1187C>T (p.Pro396Leu)
n.221+1232G>A
 ClinVar dbSNP
7g.117559502T>ACA457228762CFTR,CFTR-AS1c.1431T>A (p.Pro477=)
c.*1145T>A (n.*1145T>A)
c.1248T>A (p.Pro416=)
c.1426T>A (p.Phe476Ile)
c.*1255T>A (n.*1255T>A)
c.1005T>A (p.Pro335=)
c.1341T>A (p.Pro447=)
c.1521T>A (p.Pro507=)
c.1188T>A (p.Pro396=)
n.221+1231A>T
7g.117559502T>CCA457228763CFTR,CFTR-AS1c.1431T>C (p.Pro477=)
c.*1145T>C (n.*1145T>C)
c.1248T>C (p.Pro416=)
c.1426T>C (p.Phe476Leu)
c.*1255T>C (n.*1255T>C)
c.1005T>C (p.Pro335=)
c.1341T>C (p.Pro447=)
c.1521T>C (p.Pro507=)
c.1188T>C (p.Pro396=)
n.221+1231A>G
 ClinVar dbSNP
7g.117559502T>GCA457228764CFTR,CFTR-AS1c.1431T>G (p.Pro477=)
c.*1145T>G (n.*1145T>G)
c.1248T>G (p.Pro416=)
c.1426T>G (p.Phe476Val)
c.*1255T>G (n.*1255T>G)
c.1005T>G (p.Pro335=)
c.1341T>G (p.Pro447=)
c.1521T>G (p.Pro507=)
c.1188T>G (p.Pro396=)
n.221+1231A>C
7g.117559502T=CA1737384220CFTR,CFTR-AS1c.1431T= (p.Pro477=)
c.*1145T= (n.*1145T=)
c.1248T= (p.Pro416=)
c.1426T= (p.Phe476=)
c.*1255T= (n.*1255T=)
c.1005T= (p.Pro335=)
c.1341T= (p.Pro447=)
c.1521T= (p.Pro507=)
c.1188T= (p.Pro396=)
n.221+1231A=
7g.117559503T>ACA368984391CFTR,CFTR-AS1c.1432T>A (p.Ser478Thr)
c.*1146T>A (n.*1146T>A)
c.1249T>A (p.Ser417Thr)
c.1427T>A (p.Phe476Tyr)
c.*1256T>A (n.*1256T>A)
c.1006T>A (p.Ser336Thr)
c.1342T>A (p.Ser448Thr)
c.1522T>A (p.Ser508Thr)
c.1189T>A (p.Ser397Thr)
n.221+1230A>T
7g.117559503T>CCA368984389CFTR,CFTR-AS1c.1432T>C (p.Ser478Pro)
c.*1146T>C (n.*1146T>C)
c.1249T>C (p.Ser417Pro)
c.1427T>C (p.Phe476Ser)
c.*1256T>C (n.*1256T>C)
c.1006T>C (p.Ser336Pro)
c.1342T>C (p.Ser448Pro)
c.1522T>C (p.Ser508Pro)
c.1189T>C (p.Ser397Pro)
n.221+1230A>G
7g.117559503T>GCA368984390CFTR,CFTR-AS1c.1432T>G (p.Ser478Ala)
c.*1146T>G (n.*1146T>G)
c.1249T>G (p.Ser417Ala)
c.1427T>G (p.Phe476Cys)
c.*1256T>G (n.*1256T>G)
c.1006T>G (p.Ser336Ala)
c.1342T>G (p.Ser448Ala)
c.1522T>G (p.Ser508Ala)
c.1189T>G (p.Ser397Ala)
n.221+1230A>C
7g.117559503_117559505delinsTCACA1737384224CFTR,CFTR-AS1c.1432_1434delinsTCA (p.Ser478=)
c.*1146_*1148delinsTCA (n.*1146_*1148delinsTCA)
c.1249_1251delinsTCA (p.Ser417=)
c.1427_1429delinsTCA (p.Phe476=)
c.*1256_*1258delinsTCA (n.*1256_*1258delinsTCA)
c.1006_1008delinsTCA (p.Ser336=)
c.1342_1344delinsTCA (p.Ser448=)
c.1522_1524delinsTCA (p.Ser508=)
c.1189_1191delinsTCA (p.Ser397=)
n.221+1228_221+1230delinsTGA
7g.117559504C>ACA368984393CFTR,CFTR-AS1c.1433C>A (p.Ser478Ter)
c.*1147C>A (n.*1147C>A)
c.1250C>A (p.Ser417Ter)
c.1428C>A (p.Phe476Leu)
c.*1257C>A (n.*1257C>A)
c.1007C>A (p.Ser336Ter)
c.1343C>A (p.Ser448Ter)
c.1523C>A (p.Ser508Ter)
c.1190C>A (p.Ser397Ter)
n.221+1229G>T
7g.117559504C>GCA368984394CFTR,CFTR-AS1c.1433C>G (p.Ser478Ter)
c.*1147C>G (n.*1147C>G)
c.1250C>G (p.Ser417Ter)
c.1428C>G (p.Phe476Leu)
c.*1257C>G (n.*1257C>G)
c.1007C>G (p.Ser336Ter)
c.1343C>G (p.Ser448Ter)
c.1523C>G (p.Ser508Ter)
c.1190C>G (p.Ser397Ter)
n.221+1229G>C
7g.117559504C>TCA368984396CFTR,CFTR-AS1c.1433C>T (p.Ser478Leu)
c.*1147C>T (n.*1147C>T)
c.1250C>T (p.Ser417Leu)
c.1428C>T (p.Phe476=)
c.*1257C>T (n.*1257C>T)
c.1007C>T (p.Ser336Leu)
c.1343C>T (p.Ser448Leu)
c.1523C>T (p.Ser508Leu)
c.1190C>T (p.Ser397Leu)
n.221+1229G>A
 ClinVar
7g.117559504_117559505delCA326481CFTR,CFTR-AS1c.1433_1434del (p.Ser478Ter)
c.*1147_*1148del (n.*1147_*1148del)
c.1250_1251del (p.Ser417Ter)
c.1428_1429del (p.Phe476LeufsTer?)
c.*1257_*1258del (n.*1257_*1258del)
c.1007_1008del (p.Ser336Ter)
c.1343_1344del (p.Ser448Ter)
c.1523_1524del (p.Ser508Ter)
c.1190_1191del (p.Ser397Ter)
n.221+1228_221+1229del
 dbSNP
7g.117559505A>CCA457228765CFTR,CFTR-AS1c.1434A>C (p.Ser478=)
c.*1148A>C (n.*1148A>C)
c.1251A>C (p.Ser417=)
c.1429A>C (p.Arg477=)
c.*1258A>C (n.*1258A>C)
c.1008A>C (p.Ser336=)
c.1344A>C (p.Ser448=)
c.1524A>C (p.Ser508=)
c.1191A>C (p.Ser397=)
n.221+1228T>G
 ClinVar
7g.117559505A>GCA457228766CFTR,CFTR-AS1c.1434A>G (p.Ser478=)
c.*1148A>G (n.*1148A>G)
c.1251A>G (p.Ser417=)
c.1429A>G (p.Arg477Gly)
c.*1258A>G (n.*1258A>G)
c.1008A>G (p.Ser336=)
c.1344A>G (p.Ser448=)
c.1524A>G (p.Ser508=)
c.1191A>G (p.Ser397=)
n.221+1228T>C
7g.117559505A>TCA457228767CFTR,CFTR-AS1c.1434A>T (p.Ser478=)
c.*1148A>T (n.*1148A>T)
c.1251A>T (p.Ser417=)
c.1429A>T (p.Arg477Ter)
c.*1258A>T (n.*1258A>T)
c.1008A>T (p.Ser336=)
c.1344A>T (p.Ser448=)
c.1524A>T (p.Ser508=)
c.1191A>T (p.Ser397=)
n.221+1228T>A
7g.117559506G>ACA368984399CFTR,CFTR-AS1c.1435G>A (p.Glu479Lys)
c.*1149G>A (n.*1149G>A)
c.1252G>A (p.Glu418Lys)
c.1430G>A (p.Arg477Lys)
c.*1259G>A (n.*1259G>A)
c.1009G>A (p.Glu337Lys)
c.1345G>A (p.Glu449Lys)
c.1525G>A (p.Glu509Lys)
c.1192G>A (p.Glu398Lys)
n.221+1227C>T
7g.117559506G>CCA368984402CFTR,CFTR-AS1c.1435G>C (p.Glu479Gln)
c.*1149G>C (n.*1149G>C)
c.1252G>C (p.Glu418Gln)
c.1430G>C (p.Arg477Thr)
c.*1259G>C (n.*1259G>C)
c.1009G>C (p.Glu337Gln)
c.1345G>C (p.Glu449Gln)
c.1525G>C (p.Glu509Gln)
c.1192G>C (p.Glu398Gln)
n.221+1227C>G
7g.117559506G=CA1737384230CFTR,CFTR-AS1c.1435G= (p.Glu479=)
c.*1149G= (n.*1149G=)
c.1252G= (p.Glu418=)
c.1430G= (p.Arg477=)
c.*1259G= (n.*1259G=)
c.1009G= (p.Glu337=)
c.1345G= (p.Glu449=)
c.1525G= (p.Glu509=)
c.1192G= (p.Glu398=)
n.221+1227C=
7g.117559506G>TCA326482CFTR,CFTR-AS1c.1435G>T (p.Glu479Ter)
c.*1149G>T (n.*1149G>T)
c.1252G>T (p.Glu418Ter)
c.1430G>T (p.Arg477Ile)
c.*1259G>T (n.*1259G>T)
c.1009G>T (p.Glu337Ter)
c.1345G>T (p.Glu449Ter)
c.1525G>T (p.Glu509Ter)
c.1192G>T (p.Glu398Ter)
n.221+1227C>A
 ClinVar dbSNP gnomAD v4
7g.117559507A=CA1737384233CFTR,CFTR-AS1c.1436A= (p.Glu479=)
c.*1150A= (n.*1150A=)
c.1253A= (p.Glu418=)
c.1431A= (p.Arg477=)
c.*1260A= (n.*1260A=)
c.1010A= (p.Glu337=)
c.1346A= (p.Glu449=)
c.1526A= (p.Glu509=)
c.1193A= (p.Glu398=)
n.221+1226T=
7g.117559507A>CCA10605638CFTR,CFTR-AS1c.1436A>C (p.Glu479Ala)
c.*1150A>C (n.*1150A>C)
c.1253A>C (p.Glu418Ala)
c.1431A>C (p.Arg477Ser)
c.*1260A>C (n.*1260A>C)
c.1010A>C (p.Glu337Ala)
c.1346A>C (p.Glu449Ala)
c.1526A>C (p.Glu509Ala)
c.1193A>C (p.Glu398Ala)
n.221+1226T>G
 ClinVar dbSNP gnomAD v4
7g.117559507A>GCA368984405CFTR,CFTR-AS1c.1436A>G (p.Glu479Gly)
c.*1150A>G (n.*1150A>G)
c.1253A>G (p.Glu418Gly)
c.1431A>G (p.Arg477=)
c.*1260A>G (n.*1260A>G)
c.1010A>G (p.Glu337Gly)
c.1346A>G (p.Glu449Gly)
c.1526A>G (p.Glu509Gly)
c.1193A>G (p.Glu398Gly)
n.221+1226T>C
 dbSNP gnomAD v2 gnomAD v4
7g.117559507A>TCA368984407CFTR,CFTR-AS1c.1436A>T (p.Glu479Val)
c.*1150A>T (n.*1150A>T)
c.1253A>T (p.Glu418Val)
c.1431A>T (p.Arg477Ser)
c.*1260A>T (n.*1260A>T)
c.1010A>T (p.Glu337Val)
c.1346A>T (p.Glu449Val)
c.1526A>T (p.Glu509Val)
c.1193A>T (p.Glu398Val)
n.221+1226T>A
7g.117559508G>ACA457228768CFTR,CFTR-AS1c.1437G>A (p.Glu479=)
c.*1151G>A (n.*1151G>A)
c.1254G>A (p.Glu418=)
c.1432G>A (p.Gly478Arg)
c.*1261G>A (n.*1261G>A)
c.1011G>A (p.Glu337=)
c.1347G>A (p.Glu449=)
c.1527G>A (p.Glu509=)
c.1194G>A (p.Glu398=)
n.221+1225C>T
 ClinVar dbSNP gnomAD v4
7g.117559508G>CCA4451005CFTR,CFTR-AS1c.1437G>C (p.Glu479Asp)
c.*1151G>C (n.*1151G>C)
c.1254G>C (p.Glu418Asp)
c.1432G>C (p.Gly478Arg)
c.*1261G>C (n.*1261G>C)
c.1011G>C (p.Glu337Asp)
c.1347G>C (p.Glu449Asp)
c.1527G>C (p.Glu509Asp)
c.1194G>C (p.Glu398Asp)
n.221+1225C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559508G=CA1737384241CFTR,CFTR-AS1c.1437G= (p.Glu479=)
c.*1151G= (n.*1151G=)
c.1254G= (p.Glu418=)
c.1432G= (p.Gly478=)
c.*1261G= (n.*1261G=)
c.1011G= (p.Glu337=)
c.1347G= (p.Glu449=)
c.1527G= (p.Glu509=)
c.1194G= (p.Glu398=)
n.221+1225C=
7g.117559508G>TCA368984408CFTR,CFTR-AS1c.1437G>T (p.Glu479Asp)
c.*1151G>T (n.*1151G>T)
c.1254G>T (p.Glu418Asp)
c.1432G>T (p.Gly478Trp)
c.*1261G>T (n.*1261G>T)
c.1011G>T (p.Glu337Asp)
c.1347G>T (p.Glu449Asp)
c.1527G>T (p.Glu509Asp)
c.1194G>T (p.Glu398Asp)
n.221+1225C>A
7g.117559510delCA2695208319CFTR,CFTR-AS1c.1439del (p.Gly480ValfsTer?)
c.*1153del (n.*1153del)
c.1256del (p.Gly419ValfsTer?)
c.1434del (p.Ter479LysextTer?)
c.*1263del (n.*1263del)
c.1013del (p.Gly338ValfsTer?)
c.1349del (p.Gly450ValfsTer?)
c.1529del (p.Gly510ValfsTer?)
c.1196del (p.Gly399ValfsTer?)
n.221+1225del
7g.117559508_117559509insACA2573335088CFTR,CFTR-AS1c.1437_1438insA (p.Gly480ArgfsTer2)
c.*1151_*1152insA (n.*1151_*1152insA)
c.1254_1255insA (p.Gly419ArgfsTer2)
c.1432_1433insA (p.Gly478GlufsTer?)
c.*1261_*1262insA (n.*1261_*1262insA)
c.1011_1012insA (p.Gly338ArgfsTer2)
c.1347_1348insA (p.Gly450ArgfsTer2)
c.1527_1528insA (p.Gly510ArgfsTer2)
c.1194_1195insA (p.Gly399ArgfsTer2)
n.221+1224_221+1225insT
7g.117559509G>ACA326484CFTR,CFTR-AS1c.1438G>A (p.Gly480Ser)
c.*1152G>A (n.*1152G>A)
c.1255G>A (p.Gly419Ser)
c.1433G>A (p.Gly478Glu)
c.*1262G>A (n.*1262G>A)
c.1012G>A (p.Gly338Ser)
c.1348G>A (p.Gly450Ser)
c.1528G>A (p.Gly510Ser)
c.1195G>A (p.Gly399Ser)
n.221+1224C>T
 ClinVar dbSNP
7g.117559509G>CCA368984411CFTR,CFTR-AS1c.1438G>C (p.Gly480Arg)
c.*1152G>C (n.*1152G>C)
c.1255G>C (p.Gly419Arg)
c.1433G>C (p.Gly478Ala)
c.*1262G>C (n.*1262G>C)
c.1012G>C (p.Gly338Arg)
c.1348G>C (p.Gly450Arg)
c.1528G>C (p.Gly510Arg)
c.1195G>C (p.Gly399Arg)
n.221+1224C>G
7g.117559509G=CA1737384253CFTR,CFTR-AS1c.1438G= (p.Gly480=)
c.*1152G= (n.*1152G=)
c.1255G= (p.Gly419=)
c.1433G= (p.Gly478=)
c.*1262G= (n.*1262G=)
c.1012G= (p.Gly338=)
c.1348G= (p.Gly450=)
c.1528G= (p.Gly510=)
c.1195G= (p.Gly399=)
n.221+1224C=
7g.117559509G>TCA221007CFTR,CFTR-AS1c.1438G>T (p.Gly480Cys)
c.*1152G>T (n.*1152G>T)
c.1255G>T (p.Gly419Cys)
c.1433G>T (p.Gly478Val)
c.*1262G>T (n.*1262G>T)
c.1012G>T (p.Gly338Cys)
c.1348G>T (p.Gly450Cys)
c.1528G>T (p.Gly510Cys)
c.1195G>T (p.Gly399Cys)
n.221+1224C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559509delinsACCA1139655061CFTR,CFTR-AS1c.1438delinsAC (p.Gly480ThrfsTer2)
c.*1152delinsAC (n.*1152delinsAC)
c.1255delinsAC (p.Gly419ThrfsTer2)
c.1433delinsAC (p.Gly478AspfsTer?)
c.*1262delinsAC (n.*1262delinsAC)
c.1012delinsAC (p.Gly338ThrfsTer2)
c.1348delinsAC (p.Gly450ThrfsTer2)
c.1528delinsAC (p.Gly510ThrfsTer2)
c.1195delinsAC (p.Gly399ThrfsTer2)
n.221+1224delinsGT
7g.117559509delinsATCA2573335089CFTR,CFTR-AS1c.1438delinsAT (p.Gly480MetfsTer2)
c.*1152delinsAT (n.*1152delinsAT)
c.1255delinsAT (p.Gly419MetfsTer2)
c.1433delinsAT (p.Gly478AspfsTer?)
c.*1262delinsAT (n.*1262delinsAT)
c.1012delinsAT (p.Gly338MetfsTer2)
c.1348delinsAT (p.Gly450MetfsTer2)
c.1528delinsAT (p.Gly510MetfsTer2)
c.1195delinsAT (p.Gly399MetfsTer2)
n.221+1224delinsAT
7g.117559509delinsCCCA1139532033CFTR,CFTR-AS1c.1438delinsCC (p.Gly480ProfsTer2)
c.*1152delinsCC (n.*1152delinsCC)
c.1255delinsCC (p.Gly419ProfsTer2)
c.1433delinsCC (p.Gly478AlafsTer?)
c.*1262delinsCC (n.*1262delinsCC)
c.1012delinsCC (p.Gly338ProfsTer2)
c.1348delinsCC (p.Gly450ProfsTer2)
c.1528delinsCC (p.Gly510ProfsTer2)
c.1195delinsCC (p.Gly399ProfsTer2)
n.221+1224delinsGG
7g.117559509_117559510insTCA2573332261CFTR,CFTR-AS1c.1438_1439insT (p.Gly480ValfsTer2)
c.*1152_*1153insT (n.*1152_*1153insT)
c.1255_1256insT (p.Gly419ValfsTer2)
c.1433_1434insT (p.Ter479ValextTer?)
c.*1262_*1263insT (n.*1262_*1263insT)
c.1012_1013insT (p.Gly338ValfsTer2)
c.1348_1349insT (p.Gly450ValfsTer2)
c.1528_1529insT (p.Gly510ValfsTer2)
c.1195_1196insT (p.Gly399ValfsTer2)
n.221+1223_221+1224insA
7g.117559510G>ACA326486CFTR,CFTR-AS1c.1439G>A (p.Gly480Asp)
c.*1153G>A (n.*1153G>A)
c.1256G>A (p.Gly419Asp)
c.1434G>A (p.Gly478=)
c.*1263G>A (n.*1263G>A)
c.1013G>A (p.Gly338Asp)
c.1349G>A (p.Gly450Asp)
c.1529G>A (p.Gly510Asp)
c.1196G>A (p.Gly399Asp)
n.221+1223C>T
 ClinVar dbSNP gnomAD v4
7g.117559510G>CCA368984414CFTR,CFTR-AS1c.1439G>C (p.Gly480Ala)
c.*1153G>C (n.*1153G>C)
c.1256G>C (p.Gly419Ala)
c.1434G>C (p.Gly478=)
c.*1263G>C (n.*1263G>C)
c.1013G>C (p.Gly338Ala)
c.1349G>C (p.Gly450Ala)
c.1529G>C (p.Gly510Ala)
c.1196G>C (p.Gly399Ala)
n.221+1223C>G
7g.117559510G=CA1737384261CFTR,CFTR-AS1c.1439G= (p.Gly480=)
c.*1153G= (n.*1153G=)
c.1256G= (p.Gly419=)
c.1434G= (p.Gly478=)
c.*1263G= (n.*1263G=)
c.1013G= (p.Gly338=)
c.1349G= (p.Gly450=)
c.1529G= (p.Gly510=)
c.1196G= (p.Gly399=)
n.221+1223C=
7g.117559510G>TCA368984416CFTR,CFTR-AS1c.1439G>T (p.Gly480Val)
c.*1153G>T (n.*1153G>T)
c.1256G>T (p.Gly419Val)
c.1434G>T (p.Gly478=)
c.*1263G>T (n.*1263G>T)
c.1013G>T (p.Gly338Val)
c.1349G>T (p.Gly450Val)
c.1529G>T (p.Gly510Val)
c.1196G>T (p.Gly399Val)
n.221+1223C>A
 ClinVar
7g.117559511T>ACA457228769CFTR,CFTR-AS1c.1440T>A (p.Gly480=)
c.*1154T>A (n.*1154T>A)
c.1257T>A (p.Gly419=)
c.1435T>A (p.Ter479Lys)
c.*1264T>A (n.*1264T>A)
c.1014T>A (p.Gly338=)
c.1350T>A (p.Gly450=)
c.1530T>A (p.Gly510=)
c.1197T>A (p.Gly399=)
n.221+1222A>T
7g.117559511T>CCA164967688CFTR,CFTR-AS1c.1440T>C (p.Gly480=)
c.*1154T>C (n.*1154T>C)
c.1257T>C (p.Gly419=)
c.1435T>C (p.Ter479Gln)
c.*1264T>C (n.*1264T>C)
c.1014T>C (p.Gly338=)
c.1350T>C (p.Gly450=)
c.1530T>C (p.Gly510=)
c.1197T>C (p.Gly399=)
n.221+1222A>G
 dbSNP
7g.117559511T>GCA457228770CFTR,CFTR-AS1c.1440T>G (p.Gly480=)
c.*1154T>G (n.*1154T>G)
c.1257T>G (p.Gly419=)
c.1435T>G (p.Ter479Glu)
c.*1264T>G (n.*1264T>G)
c.1014T>G (p.Gly338=)
c.1350T>G (p.Gly450=)
c.1530T>G (p.Gly510=)
c.1197T>G (p.Gly399=)
n.221+1222A>C
 ClinVar dbSNP
7g.117559511T=CA1737384264CFTR,CFTR-AS1c.1440T= (p.Gly480=)
c.*1154T= (n.*1154T=)
c.1257T= (p.Gly419=)
c.1435T= (p.Ter479=)
c.*1264T= (n.*1264T=)
c.1014T= (p.Gly338=)
c.1350T= (p.Gly450=)
c.1530T= (p.Gly510=)
c.1197T= (p.Gly399=)
n.221+1222A=
7g.117559512A=CA1737384266CFTR,CFTR-AS1c.1441A= (p.Lys481=)
c.*1155A= (n.*1155A=)
c.1258A= (p.Lys420=)
c.1436A= (p.Ter479=)
c.*1265A= (n.*1265A=)
c.1015A= (p.Lys339=)
c.1351A= (p.Lys451=)
c.1531A= (p.Lys511=)
c.1198A= (p.Lys400=)
n.221+1221T=
7g.117559512A>CCA368984418CFTR,CFTR-AS1c.1441A>C (p.Lys481Gln)
c.*1155A>C (n.*1155A>C)
c.1258A>C (p.Lys420Gln)
c.1436A>C (p.Ter479Ser)
c.*1265A>C (n.*1265A>C)
c.1015A>C (p.Lys339Gln)
c.1351A>C (p.Lys451Gln)
c.1531A>C (p.Lys511Gln)
c.1198A>C (p.Lys400Gln)
n.221+1221T>G
7g.117559512A>GCA164967690CFTR,CFTR-AS1c.1441A>G (p.Lys481Glu)
c.*1155A>G (n.*1155A>G)
c.1258A>G (p.Lys420Glu)
c.1436A>G (p.Ter479=)
c.*1265A>G (n.*1265A>G)
c.1015A>G (p.Lys339Glu)
c.1351A>G (p.Lys451Glu)
c.1531A>G (p.Lys511Glu)
c.1198A>G (p.Lys400Glu)
n.221+1221T>C
 ClinVar dbSNP
7g.117559512A>TCA368984420CFTR,CFTR-AS1c.1441A>T (p.Lys481Ter)
c.*1155A>T (n.*1155A>T)
c.1258A>T (p.Lys420Ter)
c.1436A>T (p.Ter479Leu)
c.*1265A>T (n.*1265A>T)
c.1015A>T (p.Lys339Ter)
c.1351A>T (p.Lys451Ter)
c.1531A>T (p.Lys511Ter)
c.1198A>T (p.Lys400Ter)
n.221+1221T>A
7g.117559513A>CCA368984422CFTR,CFTR-AS1c.1442A>C (p.Lys481Thr)
c.*1156A>C (n.*1156A>C)
c.1259A>C (p.Lys420Thr)
c.1437A>C (p.Ter479Tyr)
c.*1266A>C (n.*1266A>C)
c.1016A>C (p.Lys339Thr)
c.1352A>C (p.Lys451Thr)
c.1532A>C (p.Lys511Thr)
c.1199A>C (p.Lys400Thr)
n.221+1220T>G
7g.117559513A>GCA368984424CFTR,CFTR-AS1c.1442A>G (p.Lys481Arg)
c.*1156A>G (n.*1156A>G)
c.1259A>G (p.Lys420Arg)
c.1437A>G (p.Ter479=)
c.*1266A>G (n.*1266A>G)
c.1016A>G (p.Lys339Arg)
c.1352A>G (p.Lys451Arg)
c.1532A>G (p.Lys511Arg)
c.1199A>G (p.Lys400Arg)
n.221+1220T>C
7g.117559513A>TCA368984425CFTR,CFTR-AS1c.1442A>T (p.Lys481Ile)
c.*1156A>T (n.*1156A>T)
c.1259A>T (p.Lys420Ile)
c.1437A>T (p.Ter479Tyr)
c.*1266A>T (n.*1266A>T)
c.1016A>T (p.Lys339Ile)
c.1352A>T (p.Lys451Ile)
c.1532A>T (p.Lys511Ile)
c.1199A>T (p.Lys400Ile)
n.221+1220T>A
7g.117559514A>CCA368984427CFTR,CFTR-AS1c.1443A>C (p.Lys481Asn)
c.*1157A>C (n.*1157A>C)
c.1260A>C (p.Lys420Asn)
c.*1A>C (n.*1A>C)
c.*1267A>C (n.*1267A>C)
c.1017A>C (p.Lys339Asn)
c.1353A>C (p.Lys451Asn)
c.1533A>C (p.Lys511Asn)
c.1200A>C (p.Lys400Asn)
n.221+1219T>G
7g.117559514A>GCA457228771CFTR,CFTR-AS1c.1443A>G (p.Lys481=)
c.*1157A>G (n.*1157A>G)
c.1260A>G (p.Lys420=)
c.*1A>G (n.*1A>G)
c.*1267A>G (n.*1267A>G)
c.1017A>G (p.Lys339=)
c.1353A>G (p.Lys451=)
c.1533A>G (p.Lys511=)
c.1200A>G (p.Lys400=)
n.221+1219T>C
7g.117559514A>TCA368984428CFTR,CFTR-AS1c.1443A>T (p.Lys481Asn)
c.*1157A>T (n.*1157A>T)
c.1260A>T (p.Lys420Asn)
c.*1A>T (n.*1A>T)
c.*1267A>T (n.*1267A>T)
c.1017A>T (p.Lys339Asn)
c.1353A>T (p.Lys451Asn)
c.1533A>T (p.Lys511Asn)
c.1200A>T (p.Lys400Asn)
n.221+1219T>A
7g.117559514_117559515insTCA2695208320CFTR,CFTR-AS1c.1443_1444insT (p.Ile482TyrfsTer2)
c.*1157_*1158insT (n.*1157_*1158insT)
c.1260_1261insT (p.Ile421TyrfsTer2)
c.*1_*2insT (n.*1_*2insT)
c.*1267_*1268insT (n.*1267_*1268insT)
c.1017_1018insT (p.Ile340TyrfsTer2)
c.1353_1354insT (p.Ile452TyrfsTer2)
c.1533_1534insT (p.Ile512TyrfsTer2)
c.1200_1201insT (p.Ile401TyrfsTer2)
n.221+1218_221+1219insA
7g.117559515A=CA1737384269CFTR,CFTR-AS1c.1444A= (p.Ile482=)
c.*1158A= (n.*1158A=)
c.1261A= (p.Ile421=)
c.*2A= (n.*2A=)
c.*1268A= (n.*1268A=)
c.1018A= (p.Ile340=)
c.1354A= (p.Ile452=)
c.1534A= (p.Ile512=)
c.1201A= (p.Ile401=)
n.221+1218T=
7g.117559515A>CCA368984433CFTR,CFTR-AS1c.1444A>C (p.Ile482Leu)
c.*1158A>C (n.*1158A>C)
c.1261A>C (p.Ile421Leu)
c.*2A>C (n.*2A>C)
c.*1268A>C (n.*1268A>C)
c.1018A>C (p.Ile340Leu)
c.1354A>C (p.Ile452Leu)
c.1534A>C (p.Ile512Leu)
c.1201A>C (p.Ile401Leu)
n.221+1218T>G
7g.117559515A>GCA368984434CFTR,CFTR-AS1c.1444A>G (p.Ile482Val)
c.*1158A>G (n.*1158A>G)
c.1261A>G (p.Ile421Val)
c.*2A>G (n.*2A>G)
c.*1268A>G (n.*1268A>G)
c.1018A>G (p.Ile340Val)
c.1354A>G (p.Ile452Val)
c.1534A>G (p.Ile512Val)
c.1201A>G (p.Ile401Val)
n.221+1218T>C
 ClinVar dbSNP gnomAD v4
7g.117559515A>TCA368984431CFTR,CFTR-AS1c.1444A>T (p.Ile482Phe)
c.*1158A>T (n.*1158A>T)
c.1261A>T (p.Ile421Phe)
c.*2A>T (n.*2A>T)
c.*1268A>T (n.*1268A>T)
c.1018A>T (p.Ile340Phe)
c.1354A>T (p.Ile452Phe)
c.1534A>T (p.Ile512Phe)
c.1201A>T (p.Ile401Phe)
n.221+1218T>A
7g.117559516T>ACA368984436CFTR,CFTR-AS1c.1445T>A (p.Ile482Asn)
c.*1159T>A (n.*1159T>A)
c.1262T>A (p.Ile421Asn)
c.*3T>A (n.*3T>A)
c.*1269T>A (n.*1269T>A)
c.1019T>A (p.Ile340Asn)
c.1355T>A (p.Ile452Asn)
c.1535T>A (p.Ile512Asn)
c.1202T>A (p.Ile401Asn)
n.221+1217A>T
7g.117559516T>CCA368984438CFTR,CFTR-AS1c.1445T>C (p.Ile482Thr)
c.*1159T>C (n.*1159T>C)
c.1262T>C (p.Ile421Thr)
c.*3T>C (n.*3T>C)
c.*1269T>C (n.*1269T>C)
c.1019T>C (p.Ile340Thr)
c.1355T>C (p.Ile452Thr)
c.1535T>C (p.Ile512Thr)
c.1202T>C (p.Ile401Thr)
n.221+1217A>G
7g.117559516T>GCA368984440CFTR,CFTR-AS1c.1445T>G (p.Ile482Ser)
c.*1159T>G (n.*1159T>G)
c.1262T>G (p.Ile421Ser)
c.*3T>G (n.*3T>G)
c.*1269T>G (n.*1269T>G)
c.1019T>G (p.Ile340Ser)
c.1355T>G (p.Ile452Ser)
c.1535T>G (p.Ile512Ser)
c.1202T>G (p.Ile401Ser)
n.221+1217A>C
7g.117559517dupCA326488CFTR,CFTR-AS1c.1446dup (p.Lys483Ter)
c.*1160dup (n.*1160dup)
c.1263dup (p.Lys422Ter)
c.*4dup (n.*4dup)
c.*1270dup (n.*1270dup)
c.1020dup (p.Lys341Ter)
c.1356dup (p.Lys453Ter)
c.1536dup (p.Lys513Ter)
c.1203dup (p.Lys402Ter)
n.221+1217dup
 ClinVar dbSNP
7g.117559517T>ACA164967692CFTR,CFTR-AS1c.1446T>A (p.Ile482=)
c.*1160T>A (n.*1160T>A)
c.1263T>A (p.Ile421=)
c.*4T>A (n.*4T>A)
c.*1270T>A (n.*1270T>A)
c.1020T>A (p.Ile340=)
c.1356T>A (p.Ile452=)
c.1536T>A (p.Ile512=)
c.1203T>A (p.Ile401=)
n.221+1216A>T
 ClinVar dbSNP gnomAD v4
7g.117559517T>CCA457228772CFTR,CFTR-AS1c.1446T>C (p.Ile482=)
c.*1160T>C (n.*1160T>C)
c.1263T>C (p.Ile421=)
c.*4T>C (n.*4T>C)
c.*1270T>C (n.*1270T>C)
c.1020T>C (p.Ile340=)
c.1356T>C (p.Ile452=)
c.1536T>C (p.Ile512=)
c.1203T>C (p.Ile401=)
n.221+1216A>G
7g.117559517T>GCA368984441CFTR,CFTR-AS1c.1446T>G (p.Ile482Met)
c.*1160T>G (n.*1160T>G)
c.1263T>G (p.Ile421Met)
c.*4T>G (n.*4T>G)
c.*1270T>G (n.*1270T>G)
c.1020T>G (p.Ile340Met)
c.1356T>G (p.Ile452Met)
c.1536T>G (p.Ile512Met)
c.1203T>G (p.Ile401Met)
n.221+1216A>C
7g.117559517T=CA1737384276CFTR,CFTR-AS1c.1446T= (p.Ile482=)
c.*1160T= (n.*1160T=)
c.1263T= (p.Ile421=)
c.*4T= (n.*4T=)
c.*1270T= (n.*1270T=)
c.1020T= (p.Ile340=)
c.1356T= (p.Ile452=)
c.1536T= (p.Ile512=)
c.1203T= (p.Ile401=)
n.221+1216A=
7g.117559518A=CA1737384283CFTR,CFTR-AS1c.1447A= (p.Lys483=)
c.*1161A= (n.*1161A=)
c.1264A= (p.Lys422=)
c.*5A= (n.*5A=)
c.*1271A= (n.*1271A=)
c.1021A= (p.Lys341=)
c.1357A= (p.Lys453=)
c.1537A= (p.Lys513=)
c.1204A= (p.Lys402=)
n.221+1215T=
7g.117559518A>CCA368984446CFTR,CFTR-AS1c.1447A>C (p.Lys483Gln)
c.*1161A>C (n.*1161A>C)
c.1264A>C (p.Lys422Gln)
c.*5A>C (n.*5A>C)
c.*1271A>C (n.*1271A>C)
c.1021A>C (p.Lys341Gln)
c.1357A>C (p.Lys453Gln)
c.1537A>C (p.Lys513Gln)
c.1204A>C (p.Lys402Gln)
n.221+1215T>G
7g.117559518A>GCA368984443CFTR,CFTR-AS1c.1447A>G (p.Lys483Glu)
c.*1161A>G (n.*1161A>G)
c.1264A>G (p.Lys422Glu)
c.*5A>G (n.*5A>G)
c.*1271A>G (n.*1271A>G)
c.1021A>G (p.Lys341Glu)
c.1357A>G (p.Lys453Glu)
c.1537A>G (p.Lys513Glu)
c.1204A>G (p.Lys402Glu)
n.221+1215T>C
7g.117559518A>TCA368984445CFTR,CFTR-AS1c.1447A>T (p.Lys483Ter)
c.*1161A>T (n.*1161A>T)
c.1264A>T (p.Lys422Ter)
c.*5A>T (n.*5A>T)
c.*1271A>T (n.*1271A>T)
c.1021A>T (p.Lys341Ter)
c.1357A>T (p.Lys453Ter)
c.1537A>T (p.Lys513Ter)
c.1204A>T (p.Lys402Ter)
n.221+1215T>A
 ClinVar dbSNP
7g.117559519A>CCA368984447CFTR,CFTR-AS1c.1448A>C (p.Lys483Thr)
c.*1162A>C (n.*1162A>C)
c.1265A>C (p.Lys422Thr)
c.*6A>C (n.*6A>C)
c.*1272A>C (n.*1272A>C)
c.1022A>C (p.Lys341Thr)
c.1358A>C (p.Lys453Thr)
c.1538A>C (p.Lys513Thr)
c.1205A>C (p.Lys402Thr)
n.221+1214T>G
7g.117559519A>GCA368984448CFTR,CFTR-AS1c.1448A>G (p.Lys483Arg)
c.*1162A>G (n.*1162A>G)
c.1265A>G (p.Lys422Arg)
c.*6A>G (n.*6A>G)
c.*1272A>G (n.*1272A>G)
c.1022A>G (p.Lys341Arg)
c.1358A>G (p.Lys453Arg)
c.1538A>G (p.Lys513Arg)
c.1205A>G (p.Lys402Arg)
n.221+1214T>C
7g.117559519A>TCA368984450CFTR,CFTR-AS1c.1448A>T (p.Lys483Met)
c.*1162A>T (n.*1162A>T)
c.1265A>T (p.Lys422Met)
c.*6A>T (n.*6A>T)
c.*1272A>T (n.*1272A>T)
c.1022A>T (p.Lys341Met)
c.1358A>T (p.Lys453Met)
c.1538A>T (p.Lys513Met)
c.1205A>T (p.Lys402Met)
n.221+1214T>A
7g.117559520G>ACA457228773CFTR,CFTR-AS1c.1449G>A (p.Lys483=)
c.*1163G>A (n.*1163G>A)
c.1266G>A (p.Lys422=)
c.*7G>A (n.*7G>A)
c.*1273G>A (n.*1273G>A)
c.1023G>A (p.Lys341=)
c.1359G>A (p.Lys453=)
c.1539G>A (p.Lys513=)
c.1206G>A (p.Lys402=)
n.221+1213C>T
 ClinVar
7g.117559520G>CCA368984452CFTR,CFTR-AS1c.1449G>C (p.Lys483Asn)
c.*1163G>C (n.*1163G>C)
c.1266G>C (p.Lys422Asn)
c.*7G>C (n.*7G>C)
c.*1273G>C (n.*1273G>C)
c.1023G>C (p.Lys341Asn)
c.1359G>C (p.Lys453Asn)
c.1539G>C (p.Lys513Asn)
c.1206G>C (p.Lys402Asn)
n.221+1213C>G
7g.117559520G>TCA368984453CFTR,CFTR-AS1c.1449G>T (p.Lys483Asn)
c.*1163G>T (n.*1163G>T)
c.1266G>T (p.Lys422Asn)
c.*7G>T (n.*7G>T)
c.*1273G>T (n.*1273G>T)
c.1023G>T (p.Lys341Asn)
c.1359G>T (p.Lys453Asn)
c.1539G>T (p.Lys513Asn)
c.1206G>T (p.Lys402Asn)
n.221+1213C>A
7g.117559521C>ACA368984457CFTR,CFTR-AS1c.1450C>A (p.His484Asn)
c.*1164C>A (n.*1164C>A)
c.1267C>A (p.His423Asn)
c.*8C>A (n.*8C>A)
c.*1274C>A (n.*1274C>A)
c.1024C>A (p.His342Asn)
c.1360C>A (p.His454Asn)
c.1540C>A (p.His514Asn)
c.1207C>A (p.His403Asn)
n.221+1212G>T
7g.117559521C=CA1737384290CFTR,CFTR-AS1c.1450C= (p.His484=)
c.*1164C= (n.*1164C=)
c.1267C= (p.His423=)
c.*8C= (n.*8C=)
c.*1274C= (n.*1274C=)
c.1024C= (p.His342=)
c.1360C= (p.His454=)
c.1540C= (p.His514=)
c.1207C= (p.His403=)
n.221+1212G=
7g.117559521C>GCA368984455CFTR,CFTR-AS1c.1450C>G (p.His484Asp)
c.*1164C>G (n.*1164C>G)
c.1267C>G (p.His423Asp)
c.*8C>G (n.*8C>G)
c.*1274C>G (n.*1274C>G)
c.1024C>G (p.His342Asp)
c.1360C>G (p.His454Asp)
c.1540C>G (p.His514Asp)
c.1207C>G (p.His403Asp)
n.221+1212G>C
7g.117559521C>TCA326489CFTR,CFTR-AS1c.1450C>T (p.His484Tyr)
c.*1164C>T (n.*1164C>T)
c.1267C>T (p.His423Tyr)
c.*8C>T (n.*8C>T)
c.*1274C>T (n.*1274C>T)
c.1024C>T (p.His342Tyr)
c.1360C>T (p.His454Tyr)
c.1540C>T (p.His514Tyr)
c.1207C>T (p.His403Tyr)
n.221+1212G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559522A=CA1737384294CFTR,CFTR-AS1c.1451A= (p.His484=)
c.*1165A= (n.*1165A=)
c.1268A= (p.His423=)
c.*9A= (n.*9A=)
c.*1275A= (n.*1275A=)
c.1025A= (p.His342=)
c.1361A= (p.His454=)
c.1541A= (p.His514=)
c.1208A= (p.His403=)
n.221+1211T=
7g.117559522A>CCA368984458CFTR,CFTR-AS1c.1451A>C (p.His484Pro)
c.*1165A>C (n.*1165A>C)
c.1268A>C (p.His423Pro)
c.*9A>C (n.*9A>C)
c.*1275A>C (n.*1275A>C)
c.1025A>C (p.His342Pro)
c.1361A>C (p.His454Pro)
c.1541A>C (p.His514Pro)
c.1208A>C (p.His403Pro)
n.221+1211T>G
7g.117559522A>GCA368984461CFTR,CFTR-AS1c.1451A>G (p.His484Arg)
c.*1165A>G (n.*1165A>G)
c.1268A>G (p.His423Arg)
c.*9A>G (n.*9A>G)
c.*1275A>G (n.*1275A>G)
c.1025A>G (p.His342Arg)
c.1361A>G (p.His454Arg)
c.1541A>G (p.His514Arg)
c.1208A>G (p.His403Arg)
n.221+1211T>C
 ClinVar dbSNP gnomAD v4
7g.117559522A>TCA368984460CFTR,CFTR-AS1c.1451A>T (p.His484Leu)
c.*1165A>T (n.*1165A>T)
c.1268A>T (p.His423Leu)
c.*9A>T (n.*9A>T)
c.*1275A>T (n.*1275A>T)
c.1025A>T (p.His342Leu)
c.1361A>T (p.His454Leu)
c.1541A>T (p.His514Leu)
c.1208A>T (p.His403Leu)
n.221+1211T>A
7g.117559523C>ACA368984463CFTR,CFTR-AS1c.1452C>A (p.His484Gln)
c.*1166C>A (n.*1166C>A)
c.1269C>A (p.His423Gln)
c.*10C>A (n.*10C>A)
c.*1276C>A (n.*1276C>A)
c.1026C>A (p.His342Gln)
c.1362C>A (p.His454Gln)
c.1542C>A (p.His514Gln)
c.1209C>A (p.His403Gln)
n.221+1210G>T
7g.117559523C>GCA368984464CFTR,CFTR-AS1c.1452C>G (p.His484Gln)
c.*1166C>G (n.*1166C>G)
c.1269C>G (p.His423Gln)
c.*10C>G (n.*10C>G)
c.*1276C>G (n.*1276C>G)
c.1026C>G (p.His342Gln)
c.1362C>G (p.His454Gln)
c.1542C>G (p.His514Gln)
c.1209C>G (p.His403Gln)
n.221+1210G>C
7g.117559523C>TCA457228774CFTR,CFTR-AS1c.1452C>T (p.His484=)
c.*1166C>T (n.*1166C>T)
c.1269C>T (p.His423=)
c.*10C>T (n.*10C>T)
c.*1276C>T (n.*1276C>T)
c.1026C>T (p.His342=)
c.1362C>T (p.His454=)
c.1542C>T (p.His514=)
c.1209C>T (p.His403=)
n.221+1210G>A
 ClinVar
7g.117559524A=CA1737384297CFTR,CFTR-AS1c.1453A= (p.Ser485=)
c.*1167A= (n.*1167A=)
c.1270A= (p.Ser424=)
c.*11A= (n.*11A=)
c.*1277A= (n.*1277A=)
c.1027A= (p.Ser343=)
c.1363A= (p.Ser455=)
c.1543A= (p.Ser515=)
c.1210A= (p.Ser404=)
n.221+1209T=
7g.117559524A>CCA368984465CFTR,CFTR-AS1c.1453A>C (p.Ser485Arg)
c.*1167A>C (n.*1167A>C)
c.1270A>C (p.Ser424Arg)
c.*11A>C (n.*11A>C)
c.*1277A>C (n.*1277A>C)
c.1027A>C (p.Ser343Arg)
c.1363A>C (p.Ser455Arg)
c.1543A>C (p.Ser515Arg)
c.1210A>C (p.Ser404Arg)
n.221+1209T>G
7g.117559524A>GCA368984466CFTR,CFTR-AS1c.1453A>G (p.Ser485Gly)
c.*1167A>G (n.*1167A>G)
c.1270A>G (p.Ser424Gly)
c.*11A>G (n.*11A>G)
c.*1277A>G (n.*1277A>G)
c.1027A>G (p.Ser343Gly)
c.1363A>G (p.Ser455Gly)
c.1543A>G (p.Ser515Gly)
c.1210A>G (p.Ser404Gly)
n.221+1209T>C
 dbSNP gnomAD v2
7g.117559524A>TCA326491CFTR,CFTR-AS1c.1453A>T (p.Ser485Cys)
c.*1167A>T (n.*1167A>T)
c.1270A>T (p.Ser424Cys)
c.*11A>T (n.*11A>T)
c.*1277A>T (n.*1277A>T)
c.1027A>T (p.Ser343Cys)
c.1363A>T (p.Ser455Cys)
c.1543A>T (p.Ser515Cys)
c.1210A>T (p.Ser404Cys)
n.221+1209T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559525G>ACA368984468CFTR,CFTR-AS1c.1454G>A (p.Ser485Asn)
c.*1168G>A (n.*1168G>A)
c.1271G>A (p.Ser424Asn)
c.*12G>A (n.*12G>A)
c.*1278G>A (n.*1278G>A)
c.1028G>A (p.Ser343Asn)
c.1364G>A (p.Ser455Asn)
c.1544G>A (p.Ser515Asn)
c.1211G>A (p.Ser404Asn)
n.221+1208C>T
 dbSNP gnomAD v2
7g.117559525G>CCA4451006CFTR,CFTR-AS1c.1454G>C (p.Ser485Thr)
c.*1168G>C (n.*1168G>C)
c.1271G>C (p.Ser424Thr)
c.*12G>C (n.*12G>C)
c.*1278G>C (n.*1278G>C)
c.1028G>C (p.Ser343Thr)
c.1364G>C (p.Ser455Thr)
c.1544G>C (p.Ser515Thr)
c.1211G>C (p.Ser404Thr)
n.221+1208C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559525G=CA1737384305CFTR,CFTR-AS1c.1454G= (p.Ser485=)
c.*1168G= (n.*1168G=)
c.1271G= (p.Ser424=)
c.*12G= (n.*12G=)
c.*1278G= (n.*1278G=)
c.1028G= (p.Ser343=)
c.1364G= (p.Ser455=)
c.1544G= (p.Ser515=)
c.1211G= (p.Ser404=)
n.221+1208C=
7g.117559525G>TCA368984470CFTR,CFTR-AS1c.1454G>T (p.Ser485Ile)
c.*1168G>T (n.*1168G>T)
c.1271G>T (p.Ser424Ile)
c.*12G>T (n.*12G>T)
c.*1278G>T (n.*1278G>T)
c.1028G>T (p.Ser343Ile)
c.1364G>T (p.Ser455Ile)
c.1544G>T (p.Ser515Ile)
c.1211G>T (p.Ser404Ile)
n.221+1208C>A
7g.117559526T>ACA368984471CFTR,CFTR-AS1c.1455T>A (p.Ser485Arg)
c.*1169T>A (n.*1169T>A)
c.1272T>A (p.Ser424Arg)
c.*13T>A (n.*13T>A)
c.*1279T>A (n.*1279T>A)
c.1029T>A (p.Ser343Arg)
c.1365T>A (p.Ser455Arg)
c.1545T>A (p.Ser515Arg)
c.1212T>A (p.Ser404Arg)
n.221+1207A>T
7g.117559526T>CCA457228775CFTR,CFTR-AS1c.1455T>C (p.Ser485=)
c.*1169T>C (n.*1169T>C)
c.1272T>C (p.Ser424=)
c.*13T>C (n.*13T>C)
c.*1279T>C (n.*1279T>C)
c.1029T>C (p.Ser343=)
c.1365T>C (p.Ser455=)
c.1545T>C (p.Ser515=)
c.1212T>C (p.Ser404=)
n.221+1207A>G
 ClinVar
7g.117559526T>GCA368984472CFTR,CFTR-AS1c.1455T>G (p.Ser485Arg)
c.*1169T>G (n.*1169T>G)
c.1272T>G (p.Ser424Arg)
c.*13T>G (n.*13T>G)
c.*1279T>G (n.*1279T>G)
c.1029T>G (p.Ser343Arg)
c.1365T>G (p.Ser455Arg)
c.1545T>G (p.Ser515Arg)
c.1212T>G (p.Ser404Arg)
n.221+1207A>C
7g.117559527G>ACA368984474CFTR,CFTR-AS1c.1456G>A (p.Gly486Arg)
c.*1170G>A (n.*1170G>A)
c.1273G>A (p.Gly425Arg)
c.*14G>A (n.*14G>A)
c.*1280G>A (n.*1280G>A)
c.1030G>A (p.Gly344Arg)
c.1366G>A (p.Gly456Arg)
c.1546G>A (p.Gly516Arg)
c.1213G>A (p.Gly405Arg)
n.221+1206C>T
7g.117559527G>CCA368984475CFTR,CFTR-AS1c.1456G>C (p.Gly486Arg)
c.*1170G>C (n.*1170G>C)
c.1273G>C (p.Gly425Arg)
c.*14G>C (n.*14G>C)
c.*1280G>C (n.*1280G>C)
c.1030G>C (p.Gly344Arg)
c.1366G>C (p.Gly456Arg)
c.1546G>C (p.Gly516Arg)
c.1213G>C (p.Gly405Arg)
n.221+1206C>G
7g.117559527G>TCA368984477CFTR,CFTR-AS1c.1456G>T (p.Gly486Ter)
c.*1170G>T (n.*1170G>T)
c.1273G>T (p.Gly425Ter)
c.*14G>T (n.*14G>T)
c.*1280G>T (n.*1280G>T)
c.1030G>T (p.Gly344Ter)
c.1366G>T (p.Gly456Ter)
c.1546G>T (p.Gly516Ter)
c.1213G>T (p.Gly405Ter)
n.221+1206C>A
7g.117559528G>ACA368984481CFTR,CFTR-AS1c.1457G>A (p.Gly486Glu)
c.*1171G>A (n.*1171G>A)
c.1274G>A (p.Gly425Glu)
c.*15G>A (n.*15G>A)
c.*1281G>A (n.*1281G>A)
c.1031G>A (p.Gly344Glu)
c.1367G>A (p.Gly456Glu)
c.1547G>A (p.Gly516Glu)
c.1214G>A (p.Gly405Glu)
n.221+1205C>T
7g.117559528G>CCA368984478CFTR,CFTR-AS1c.1457G>C (p.Gly486Ala)
c.*1171G>C (n.*1171G>C)
c.1274G>C (p.Gly425Ala)
c.*15G>C (n.*15G>C)
c.*1281G>C (n.*1281G>C)
c.1031G>C (p.Gly344Ala)
c.1367G>C (p.Gly456Ala)
c.1547G>C (p.Gly516Ala)
c.1214G>C (p.Gly405Ala)
n.221+1205C>G
7g.117559528G>TCA368984480CFTR,CFTR-AS1c.1457G>T (p.Gly486Val)
c.*1171G>T (n.*1171G>T)
c.1274G>T (p.Gly425Val)
c.*15G>T (n.*15G>T)
c.*1281G>T (n.*1281G>T)
c.1031G>T (p.Gly344Val)
c.1367G>T (p.Gly456Val)
c.1547G>T (p.Gly516Val)
c.1214G>T (p.Gly405Val)
n.221+1205C>A
 gnomAD v4
7g.117559529A=CA1737384314CFTR,CFTR-AS1c.1458A= (p.Gly486=)
c.*1172A= (n.*1172A=)
c.1275A= (p.Gly425=)
c.*16A= (n.*16A=)
c.*1282A= (n.*1282A=)
c.1032A= (p.Gly344=)
c.1368A= (p.Gly456=)
c.1548A= (p.Gly516=)
c.1215A= (p.Gly405=)
n.221+1204T=
7g.117559529A>CCA457228776CFTR,CFTR-AS1c.1458A>C (p.Gly486=)
c.*1172A>C (n.*1172A>C)
c.1275A>C (p.Gly425=)
c.*16A>C (n.*16A>C)
c.*1282A>C (n.*1282A>C)
c.1032A>C (p.Gly344=)
c.1368A>C (p.Gly456=)
c.1548A>C (p.Gly516=)
c.1215A>C (p.Gly405=)
n.221+1204T>G
7g.117559529A>GCA164967698CFTR,CFTR-AS1c.1458A>G (p.Gly486=)
c.*1172A>G (n.*1172A>G)
c.1275A>G (p.Gly425=)
c.*16A>G (n.*16A>G)
c.*1282A>G (n.*1282A>G)
c.1032A>G (p.Gly344=)
c.1368A>G (p.Gly456=)
c.1548A>G (p.Gly516=)
c.1215A>G (p.Gly405=)
n.221+1204T>C
 ClinVar dbSNP
7g.117559529A>TCA457228777CFTR,CFTR-AS1c.1458A>T (p.Gly486=)
c.*1172A>T (n.*1172A>T)
c.1275A>T (p.Gly425=)
c.*16A>T (n.*16A>T)
c.*1282A>T (n.*1282A>T)
c.1032A>T (p.Gly344=)
c.1368A>T (p.Gly456=)
c.1548A>T (p.Gly516=)
c.1215A>T (p.Gly405=)
n.221+1204T>A
7g.117559530A>CCA457228778CFTR,CFTR-AS1c.1459A>C (p.Arg487=)
c.*1173A>C (n.*1173A>C)
c.1276A>C (p.Arg426=)
c.*17A>C (n.*17A>C)
c.*1283A>C (n.*1283A>C)
c.1033A>C (p.Arg345=)
c.1369A>C (p.Arg457=)
c.1549A>C (p.Arg517=)
c.1216A>C (p.Arg406=)
n.221+1203T>G
7g.117559530A>GCA368984483CFTR,CFTR-AS1c.1459A>G (p.Arg487Gly)
c.*1173A>G (n.*1173A>G)
c.1276A>G (p.Arg426Gly)
c.*17A>G (n.*17A>G)
c.*1283A>G (n.*1283A>G)
c.1033A>G (p.Arg345Gly)
c.1369A>G (p.Arg457Gly)
c.1549A>G (p.Arg517Gly)
c.1216A>G (p.Arg406Gly)
n.221+1203T>C
7g.117559530A>TCA368984484CFTR,CFTR-AS1c.1459A>T (p.Arg487Ter)
c.*1173A>T (n.*1173A>T)
c.1276A>T (p.Arg426Ter)
c.*17A>T (n.*17A>T)
c.*1283A>T (n.*1283A>T)
c.1033A>T (p.Arg345Ter)
c.1369A>T (p.Arg457Ter)
c.1549A>T (p.Arg517Ter)
c.1216A>T (p.Arg406Ter)
n.221+1203T>A
7g.117559531G>ACA4451007CFTR,CFTR-AS1c.1460G>A (p.Arg487Lys)
c.*1174G>A (n.*1174G>A)
c.1277G>A (p.Arg426Lys)
c.*18G>A (n.*18G>A)
c.*1284G>A (n.*1284G>A)
c.1034G>A (p.Arg345Lys)
c.1370G>A (p.Arg457Lys)
c.1550G>A (p.Arg517Lys)
c.1217G>A (p.Arg406Lys)
n.221+1202C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559531G>CCA368984487CFTR,CFTR-AS1c.1460G>C (p.Arg487Thr)
c.*1174G>C (n.*1174G>C)
c.1277G>C (p.Arg426Thr)
c.*18G>C (n.*18G>C)
c.*1284G>C (n.*1284G>C)
c.1034G>C (p.Arg345Thr)
c.1370G>C (p.Arg457Thr)
c.1550G>C (p.Arg517Thr)
c.1217G>C (p.Arg406Thr)
n.221+1202C>G
7g.117559531G=CA1737384319CFTR,CFTR-AS1c.1460G= (p.Arg487=)
c.*1174G= (n.*1174G=)
c.1277G= (p.Arg426=)
c.*18G= (n.*18G=)
c.*1284G= (n.*1284G=)
c.1034G= (p.Arg345=)
c.1370G= (p.Arg457=)
c.1550G= (p.Arg517=)
c.1217G= (p.Arg406=)
n.221+1202C=
7g.117559531G>TCA368984488CFTR,CFTR-AS1c.1460G>T (p.Arg487Ile)
c.*1174G>T (n.*1174G>T)
c.1277G>T (p.Arg426Ile)
c.*18G>T (n.*18G>T)
c.*1284G>T (n.*1284G>T)
c.1034G>T (p.Arg345Ile)
c.1370G>T (p.Arg457Ile)
c.1550G>T (p.Arg517Ile)
c.1217G>T (p.Arg406Ile)
n.221+1202C>A
 COSMIC
7g.117559532A>CCA368984490CFTR,CFTR-AS1c.1461A>C (p.Arg487Ser)
c.*1175A>C (n.*1175A>C)
c.1278A>C (p.Arg426Ser)
c.*19A>C (n.*19A>C)
c.*1285A>C (n.*1285A>C)
c.1035A>C (p.Arg345Ser)
c.1371A>C (p.Arg457Ser)
c.1551A>C (p.Arg517Ser)
c.1218A>C (p.Arg406Ser)
n.221+1201T>G
7g.117559532A>GCA457228779CFTR,CFTR-AS1c.1461A>G (p.Arg487=)
c.*1175A>G (n.*1175A>G)
c.1278A>G (p.Arg426=)
c.*19A>G (n.*19A>G)
c.*1285A>G (n.*1285A>G)
c.1035A>G (p.Arg345=)
c.1371A>G (p.Arg457=)
c.1551A>G (p.Arg517=)
c.1218A>G (p.Arg406=)
n.221+1201T>C
 gnomAD v4
7g.117559532A>TCA368984492CFTR,CFTR-AS1c.1461A>T (p.Arg487Ser)
c.*1175A>T (n.*1175A>T)
c.1278A>T (p.Arg426Ser)
c.*19A>T (n.*19A>T)
c.*1285A>T (n.*1285A>T)
c.1035A>T (p.Arg345Ser)
c.1371A>T (p.Arg457Ser)
c.1551A>T (p.Arg517Ser)
c.1218A>T (p.Arg406Ser)
n.221+1201T>A
7g.117559533A>CCA368984493CFTR,CFTR-AS1c.1462A>C (p.Ile488Leu)
c.*1176A>C (n.*1176A>C)
c.1279A>C (p.Ile427Leu)
c.*20A>C (n.*20A>C)
c.*1286A>C (n.*1286A>C)
c.1036A>C (p.Ile346Leu)
c.1372A>C (p.Ile458Leu)
c.1552A>C (p.Ile518Leu)
c.1219A>C (p.Ile407Leu)
n.221+1200T>G
7g.117559533A>GCA368984494CFTR,CFTR-AS1c.1462A>G (p.Ile488Val)
c.*1176A>G (n.*1176A>G)
c.1279A>G (p.Ile427Val)
c.*20A>G (n.*20A>G)
c.*1286A>G (n.*1286A>G)
c.1036A>G (p.Ile346Val)
c.1372A>G (p.Ile458Val)
c.1552A>G (p.Ile518Val)
c.1219A>G (p.Ile407Val)
n.221+1200T>C
7g.117559533A>TCA368984496CFTR,CFTR-AS1c.1462A>T (p.Ile488Phe)
c.*1176A>T (n.*1176A>T)
c.1279A>T (p.Ile427Phe)
c.*20A>T (n.*20A>T)
c.*1286A>T (n.*1286A>T)
c.1036A>T (p.Ile346Phe)
c.1372A>T (p.Ile458Phe)
c.1552A>T (p.Ile518Phe)
c.1219A>T (p.Ile407Phe)
n.221+1200T>A
7g.117559536_117559540delCA2573141542CFTR,CFTR-AS1c.1465_1469del (p.Ser489LeufsTer13)
c.*1179_*1183del (n.*1179_*1183del)
c.1282_1286del (p.Ser428LeufsTer13)
c.*23_*27del (n.*23_*27del)
c.*1289_*1293del (n.*1289_*1293del)
c.1039_1043del (p.Ser347LeufsTer13)
c.1375_1379del (p.Ser459LeufsTer13)
c.1555_1559del (p.Ser519LeufsTer13)
c.1222_1226del (p.Ser408LeufsTer13)
n.221+1196_221+1200del
 ClinVar dbSNP
7g.117559534T>ACA368984499CFTR,CFTR-AS1c.1463T>A (p.Ile488Asn)
c.*1177T>A (n.*1177T>A)
c.1280T>A (p.Ile427Asn)
c.*21T>A (n.*21T>A)
c.*1287T>A (n.*1287T>A)
c.1037T>A (p.Ile346Asn)
c.1373T>A (p.Ile458Asn)
c.1553T>A (p.Ile518Asn)
c.1220T>A (p.Ile407Asn)
n.221+1199A>T
7g.117559534T>CCA368984501CFTR,CFTR-AS1c.1463T>C (p.Ile488Thr)
c.*1177T>C (n.*1177T>C)
c.1280T>C (p.Ile427Thr)
c.*21T>C (n.*21T>C)
c.*1287T>C (n.*1287T>C)
c.1037T>C (p.Ile346Thr)
c.1373T>C (p.Ile458Thr)
c.1553T>C (p.Ile518Thr)
c.1220T>C (p.Ile407Thr)
n.221+1199A>G
7g.117559534T>GCA368984498CFTR,CFTR-AS1c.1463T>G (p.Ile488Ser)
c.*1177T>G (n.*1177T>G)
c.1280T>G (p.Ile427Ser)
c.*21T>G (n.*21T>G)
c.*1287T>G (n.*1287T>G)
c.1037T>G (p.Ile346Ser)
c.1373T>G (p.Ile458Ser)
c.1553T>G (p.Ile518Ser)
c.1220T>G (p.Ile407Ser)
n.221+1199A>C
7g.117559535_117559547delCA2573141543CFTR,CFTR-AS1c.1464_1476del (p.Cys491ProfsTer?)
c.*1178_*1190del (n.*1178_*1190del)
c.1281_1293del (p.Cys430ProfsTer?)
c.*22_*34del (n.*22_*34del)
c.*1288_*1300del (n.*1288_*1300del)
c.1038_1050del (p.Cys349ProfsTer?)
c.1374_1386del (p.Cys461ProfsTer?)
c.1554_1566del (p.Cys521ProfsTer?)
c.1221_1233del (p.Cys410ProfsTer?)
n.221+1187_221+1199del
 ClinVar dbSNP
7g.117559535T>ACA457228781CFTR,CFTR-AS1c.1464T>A (p.Ile488=)
c.*1178T>A (n.*1178T>A)
c.1281T>A (p.Ile427=)
c.*22T>A (n.*22T>A)
c.*1288T>A (n.*1288T>A)
c.1038T>A (p.Ile346=)
c.1374T>A (p.Ile458=)
c.1554T>A (p.Ile518=)
c.1221T>A (p.Ile407=)
n.221+1198A>T
7g.117559535T>CCA457228780CFTR,CFTR-AS1c.1464T>C (p.Ile488=)
c.*1178T>C (n.*1178T>C)
c.1281T>C (p.Ile427=)
c.*22T>C (n.*22T>C)
c.*1288T>C (n.*1288T>C)
c.1038T>C (p.Ile346=)
c.1374T>C (p.Ile458=)
c.1554T>C (p.Ile518=)
c.1221T>C (p.Ile407=)
n.221+1198A>G
 ClinVar dbSNP gnomAD v4
7g.117559535T>GCA368984502CFTR,CFTR-AS1c.1464T>G (p.Ile488Met)
c.*1178T>G (n.*1178T>G)
c.1281T>G (p.Ile427Met)
c.*22T>G (n.*22T>G)
c.*1288T>G (n.*1288T>G)
c.1038T>G (p.Ile346Met)
c.1374T>G (p.Ile458Met)
c.1554T>G (p.Ile518Met)
c.1221T>G (p.Ile407Met)
n.221+1198A>C
7g.117559535T=CA1737384326CFTR,CFTR-AS1c.1464T= (p.Ile488=)
c.*1178T= (n.*1178T=)
c.1281T= (p.Ile427=)
c.*22T= (n.*22T=)
c.*1288T= (n.*1288T=)
c.1038T= (p.Ile346=)
c.1374T= (p.Ile458=)
c.1554T= (p.Ile518=)
c.1221T= (p.Ile407=)
n.221+1198A=
7g.117559536T>ACA368984504CFTR,CFTR-AS1c.1465T>A (p.Ser489Thr)
c.*1179T>A (n.*1179T>A)
c.1282T>A (p.Ser428Thr)
c.*23T>A (n.*23T>A)
c.*1289T>A (n.*1289T>A)
c.1039T>A (p.Ser347Thr)
c.1375T>A (p.Ser459Thr)
c.1555T>A (p.Ser519Thr)
c.1222T>A (p.Ser408Thr)
n.221+1197A>T
7g.117559536T>CCA368984505CFTR,CFTR-AS1c.1465T>C (p.Ser489Pro)
c.*1179T>C (n.*1179T>C)
c.1282T>C (p.Ser428Pro)
c.*23T>C (n.*23T>C)
c.*1289T>C (n.*1289T>C)
c.1039T>C (p.Ser347Pro)
c.1375T>C (p.Ser459Pro)
c.1555T>C (p.Ser519Pro)
c.1222T>C (p.Ser408Pro)
n.221+1197A>G
7g.117559536T>GCA368984507CFTR,CFTR-AS1c.1465T>G (p.Ser489Ala)
c.*1179T>G (n.*1179T>G)
c.1282T>G (p.Ser428Ala)
c.*23T>G (n.*23T>G)
c.*1289T>G (n.*1289T>G)
c.1039T>G (p.Ser347Ala)
c.1375T>G (p.Ser459Ala)
c.1555T>G (p.Ser519Ala)
c.1222T>G (p.Ser408Ala)
n.221+1197A>C
7g.117559537C>ACA328087CFTR,CFTR-AS1c.1466C>A (p.Ser489Ter)
c.*1180C>A (n.*1180C>A)
c.1283C>A (p.Ser428Ter)
c.*24C>A (n.*24C>A)
c.*1290C>A (n.*1290C>A)
c.1040C>A (p.Ser347Ter)
c.1376C>A (p.Ser459Ter)
c.1556C>A (p.Ser519Ter)
c.1223C>A (p.Ser408Ter)
n.221+1196G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559537C=CA1737384340CFTR,CFTR-AS1c.1466C= (p.Ser489=)
c.*1180C= (n.*1180C=)
c.1283C= (p.Ser428=)
c.*24C= (n.*24C=)
c.*1290C= (n.*1290C=)
c.1040C= (p.Ser347=)
c.1376C= (p.Ser459=)
c.1556C= (p.Ser519=)
c.1223C= (p.Ser408=)
n.221+1196G=
7g.117559537C>GCA368984509CFTR,CFTR-AS1c.1466C>G (p.Ser489Ter)
c.*1180C>G (n.*1180C>G)
c.1283C>G (p.Ser428Ter)
c.*24C>G (n.*24C>G)
c.*1290C>G (n.*1290C>G)
c.1040C>G (p.Ser347Ter)
c.1376C>G (p.Ser459Ter)
c.1556C>G (p.Ser519Ter)
c.1223C>G (p.Ser408Ter)
n.221+1196G>C
 dbSNP gnomAD v3 gnomAD v4
7g.117559537C>TCA164967713CFTR,CFTR-AS1c.1466C>T (p.Ser489Leu)
c.*1180C>T (n.*1180C>T)
c.1283C>T (p.Ser428Leu)
c.*24C>T (n.*24C>T)
c.*1290C>T (n.*1290C>T)
c.1040C>T (p.Ser347Leu)
c.1376C>T (p.Ser459Leu)
c.1556C>T (p.Ser519Leu)
c.1223C>T (p.Ser408Leu)
n.221+1196G>A
 dbSNP COSMIC
7g.117559538A=CA1737384347CFTR,CFTR-AS1c.1467A= (p.Ser489=)
c.*1181A= (n.*1181A=)
c.1284A= (p.Ser428=)
c.*25A= (n.*25A=)
c.*1291A= (n.*1291A=)
c.1041A= (p.Ser347=)
c.1377A= (p.Ser459=)
c.1557A= (p.Ser519=)
c.1224A= (p.Ser408=)
n.221+1195T=
7g.117559538A>CCA457228797CFTR,CFTR-AS1c.1467A>C (p.Ser489=)
c.*1181A>C (n.*1181A>C)
c.1284A>C (p.Ser428=)
c.*25A>C (n.*25A>C)
c.*1291A>C (n.*1291A>C)
c.1041A>C (p.Ser347=)
c.1377A>C (p.Ser459=)
c.1557A>C (p.Ser519=)
c.1224A>C (p.Ser408=)
n.221+1195T>G
 ClinVar gnomAD v4
7g.117559538A>GCA457228799CFTR,CFTR-AS1c.1467A>G (p.Ser489=)
c.*1181A>G (n.*1181A>G)
c.1284A>G (p.Ser428=)
c.*25A>G (n.*25A>G)
c.*1291A>G (n.*1291A>G)
c.1041A>G (p.Ser347=)
c.1377A>G (p.Ser459=)
c.1557A>G (p.Ser519=)
c.1224A>G (p.Ser408=)
n.221+1195T>C
 ClinVar dbSNP
7g.117559538A>TCA457228798CFTR,CFTR-AS1c.1467A>T (p.Ser489=)
c.*1181A>T (n.*1181A>T)
c.1284A>T (p.Ser428=)
c.*25A>T (n.*25A>T)
c.*1291A>T (n.*1291A>T)
c.1041A>T (p.Ser347=)
c.1377A>T (p.Ser459=)
c.1557A>T (p.Ser519=)
c.1224A>T (p.Ser408=)
n.221+1195T>A
7g.117559538_117559539delinsATCA1737384344CFTR,CFTR-AS1c.1467_1468delinsAT (p.Ser489=)
c.*1181_*1182delinsAT (n.*1181_*1182delinsAT)
c.1284_1285delinsAT (p.Ser428=)
c.*25_*26delinsAT (n.*25_*26delinsAT)
c.*1291_*1292delinsAT (n.*1291_*1292delinsAT)
c.1041_1042delinsAT (p.Ser347=)
c.1377_1378delinsAT (p.Ser459=)
c.1557_1558delinsAT (p.Ser519=)
c.1224_1225delinsAT (p.Ser408=)
n.221+1194_221+1195delinsAT
7g.117559539T>ACA368984511CFTR,CFTR-AS1c.1468T>A (p.Phe490Ile)
c.*1182T>A (n.*1182T>A)
c.1285T>A (p.Phe429Ile)
c.*26T>A (n.*26T>A)
c.*1292T>A (n.*1292T>A)
c.1042T>A (p.Phe348Ile)
c.1378T>A (p.Phe460Ile)
c.1558T>A (p.Phe520Ile)
c.1225T>A (p.Phe409Ile)
n.221+1194A>T
7g.117559539T>CCA368984512CFTR,CFTR-AS1c.1468T>C (p.Phe490Leu)
c.*1182T>C (n.*1182T>C)
c.1285T>C (p.Phe429Leu)
c.*26T>C (n.*26T>C)
c.*1292T>C (n.*1292T>C)
c.1042T>C (p.Phe348Leu)
c.1378T>C (p.Phe460Leu)
c.1558T>C (p.Phe520Leu)
c.1225T>C (p.Phe409Leu)
n.221+1194A>G
7g.117559539T>GCA368984513CFTR,CFTR-AS1c.1468T>G (p.Phe490Val)
c.*1182T>G (n.*1182T>G)
c.1285T>G (p.Phe429Val)
c.*26T>G (n.*26T>G)
c.*1292T>G (n.*1292T>G)
c.1042T>G (p.Phe348Val)
c.1378T>G (p.Phe460Val)
c.1558T>G (p.Phe520Val)
c.1225T>G (p.Phe409Val)
n.221+1194A>C
7g.117559540delCA4451008CFTR,CFTR-AS1c.1469del (p.Phe490SerfsTer?)
c.*1183del (n.*1183del)
c.1286del (p.Phe429SerfsTer?)
c.*27del (n.*27del)
c.*1293del (n.*1293del)
c.1043del (p.Phe348SerfsTer?)
c.1379del (p.Phe460SerfsTer?)
c.1559del (p.Phe520SerfsTer?)
c.1226del (p.Phe409SerfsTer?)
n.221+1194del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559539_117559541delinsTTCCA1737384359CFTR,CFTR-AS1c.1468_1470delinsTTC (p.Phe490=)
c.*1182_*1184delinsTTC (n.*1182_*1184delinsTTC)
c.1285_1287delinsTTC (p.Phe429=)
c.*26_*28delinsTTC (n.*26_*28delinsTTC)
c.*1292_*1294delinsTTC (n.*1292_*1294delinsTTC)
c.1042_1044delinsTTC (p.Phe348=)
c.1378_1380delinsTTC (p.Phe460=)
c.1558_1560delinsTTC (p.Phe520=)
c.1225_1227delinsTTC (p.Phe409=)
n.221+1192_221+1194delinsGAA
7g.117559539_117559542delCA2695199619CFTR,CFTR-AS1c.1468_1471del (p.Phe490ValfsTer?)
c.*1182_*1185del (n.*1182_*1185del)
c.1285_1288del (p.Phe429ValfsTer?)
c.*26_*29del (n.*26_*29del)
c.*1292_*1295del (n.*1292_*1295del)
c.1042_1045del (p.Phe348ValfsTer?)
c.1378_1381del (p.Phe460ValfsTer?)
c.1558_1561del (p.Phe520ValfsTer?)
c.1225_1228del (p.Phe409ValfsTer?)
n.221+1191_221+1194del
 ClinVar
7g.117559540T>ACA368984517CFTR,CFTR-AS1c.1469T>A (p.Phe490Tyr)
c.*1183T>A (n.*1183T>A)
c.1286T>A (p.Phe429Tyr)
c.*27T>A (n.*27T>A)
c.*1293T>A (n.*1293T>A)
c.1043T>A (p.Phe348Tyr)
c.1379T>A (p.Phe460Tyr)
c.1559T>A (p.Phe520Tyr)
c.1226T>A (p.Phe409Tyr)
n.221+1193A>T
7g.117559540T>CCA368984516CFTR,CFTR-AS1c.1469T>C (p.Phe490Ser)
c.*1183T>C (n.*1183T>C)
c.1286T>C (p.Phe429Ser)
c.*27T>C (n.*27T>C)
c.*1293T>C (n.*1293T>C)
c.1043T>C (p.Phe348Ser)
c.1379T>C (p.Phe460Ser)
c.1559T>C (p.Phe520Ser)
c.1226T>C (p.Phe409Ser)
n.221+1193A>G
7g.117559540T>GCA4451009CFTR,CFTR-AS1c.1469T>G (p.Phe490Cys)
c.*1183T>G (n.*1183T>G)
c.1286T>G (p.Phe429Cys)
c.*27T>G (n.*27T>G)
c.*1293T>G (n.*1293T>G)
c.1043T>G (p.Phe348Cys)
c.1379T>G (p.Phe460Cys)
c.1559T>G (p.Phe520Cys)
c.1226T>G (p.Phe409Cys)
n.221+1193A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559540T=CA1737384367CFTR,CFTR-AS1c.1469T= (p.Phe490=)
c.*1183T= (n.*1183T=)
c.1286T= (p.Phe429=)
c.*27T= (n.*27T=)
c.*1293T= (n.*1293T=)
c.1043T= (p.Phe348=)
c.1379T= (p.Phe460=)
c.1559T= (p.Phe520=)
c.1226T= (p.Phe409=)
n.221+1193A=
7g.117559541_117559542delCA326493CFTR,CFTR-AS1c.1470_1471del (p.Phe490LeufsTer13)
c.*1184_*1185del (n.*1184_*1185del)
c.1287_1288del (p.Phe429LeufsTer13)
c.*28_*29del (n.*28_*29del)
c.*1294_*1295del (n.*1294_*1295del)
c.1044_1045del (p.Phe348LeufsTer13)
c.1380_1381del (p.Phe460LeufsTer13)
c.1560_1561del (p.Phe520LeufsTer13)
c.1227_1228del (p.Phe409LeufsTer13)
n.221+1192_221+1193del
 dbSNP gnomAD v4
7g.117559541C>ACA368984519CFTR,CFTR-AS1c.1470C>A (p.Phe490Leu)
c.*1184C>A (n.*1184C>A)
c.1287C>A (p.Phe429Leu)
c.*28C>A (n.*28C>A)
c.*1294C>A (n.*1294C>A)
c.1044C>A (p.Phe348Leu)
c.1380C>A (p.Phe460Leu)
c.1560C>A (p.Phe520Leu)
c.1227C>A (p.Phe409Leu)
n.221+1192G>T
7g.117559541C=CA1737384375CFTR,CFTR-AS1c.1470C= (p.Phe490=)
c.*1184C= (n.*1184C=)
c.1287C= (p.Phe429=)
c.*28C= (n.*28C=)
c.*1294C= (n.*1294C=)
c.1044C= (p.Phe348=)
c.1380C= (p.Phe460=)
c.1560C= (p.Phe520=)
c.1227C= (p.Phe409=)
n.221+1192G=
7g.117559541C>GCA368984520CFTR,CFTR-AS1c.1470C>G (p.Phe490Leu)
c.*1184C>G (n.*1184C>G)
c.1287C>G (p.Phe429Leu)
c.*28C>G (n.*28C>G)
c.*1294C>G (n.*1294C>G)
c.1044C>G (p.Phe348Leu)
c.1380C>G (p.Phe460Leu)
c.1560C>G (p.Phe520Leu)
c.1227C>G (p.Phe409Leu)
n.221+1192G>C
7g.117559541C>TCA457228801CFTR,CFTR-AS1c.1470C>T (p.Phe490=)
c.*1184C>T (n.*1184C>T)
c.1287C>T (p.Phe429=)
c.*28C>T (n.*28C>T)
c.*1294C>T (n.*1294C>T)
c.1044C>T (p.Phe348=)
c.1380C>T (p.Phe460=)
c.1560C>T (p.Phe520=)
c.1227C>T (p.Phe409=)
n.221+1192G>A
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117559542T>ACA368984522CFTR,CFTR-AS1c.1471T>A (p.Cys491Ser)
c.*1185T>A (n.*1185T>A)
c.1288T>A (p.Cys430Ser)
c.*29T>A (n.*29T>A)
c.*1295T>A (n.*1295T>A)
c.1045T>A (p.Cys349Ser)
c.1381T>A (p.Cys461Ser)
c.1561T>A (p.Cys521Ser)
c.1228T>A (p.Cys410Ser)
n.221+1191A>T
7g.117559542T>CCA326494CFTR,CFTR-AS1c.1471T>C (p.Cys491Arg)
c.*1185T>C (n.*1185T>C)
c.1288T>C (p.Cys430Arg)
c.*29T>C (n.*29T>C)
c.*1295T>C (n.*1295T>C)
c.1045T>C (p.Cys349Arg)
c.1381T>C (p.Cys461Arg)
c.1561T>C (p.Cys521Arg)
c.1228T>C (p.Cys410Arg)
n.221+1191A>G
 ClinVar dbSNP
7g.117559542T>GCA368984524CFTR,CFTR-AS1c.1471T>G (p.Cys491Gly)
c.*1185T>G (n.*1185T>G)
c.1288T>G (p.Cys430Gly)
c.*29T>G (n.*29T>G)
c.*1295T>G (n.*1295T>G)
c.1045T>G (p.Cys349Gly)
c.1381T>G (p.Cys461Gly)
c.1561T>G (p.Cys521Gly)
c.1228T>G (p.Cys410Gly)
n.221+1191A>C
7g.117559542T=CA1737384382CFTR,CFTR-AS1c.1471T= (p.Cys491=)
c.*1185T= (n.*1185T=)
c.1288T= (p.Cys430=)
c.*29T= (n.*29T=)
c.*1295T= (n.*1295T=)
c.1045T= (p.Cys349=)
c.1381T= (p.Cys461=)
c.1561T= (p.Cys521=)
c.1228T= (p.Cys410=)
n.221+1191A=
7g.117559543_117559553delCA2580076300CFTR,CFTR-AS1c.1472_1482del (p.Cys491PhefsTer9)
c.*1186_*1196del (n.*1186_*1196del)
c.1289_1299del (p.Cys430PhefsTer9)
c.*30_*40del (n.*30_*40del)
c.*1296_*1306del (n.*1296_*1306del)
c.1046_1056del (p.Cys349PhefsTer9)
c.1382_1392del (p.Cys461PhefsTer9)
c.1562_1572del (p.Cys521PhefsTer9)
c.1229_1239del (p.Cys410PhefsTer9)
n.221+1181_221+1191del
 ClinVar
7g.117559543G>ACA368984526CFTR,CFTR-AS1c.1472G>A (p.Cys491Tyr)
c.*1186G>A (n.*1186G>A)
c.1289G>A (p.Cys430Tyr)
c.*30G>A (n.*30G>A)
c.*1296G>A (n.*1296G>A)
c.1046G>A (p.Cys349Tyr)
c.1382G>A (p.Cys461Tyr)
c.1562G>A (p.Cys521Tyr)
c.1229G>A (p.Cys410Tyr)
n.221+1190C>T
 gnomAD v4
7g.117559543G>CCA368984527CFTR,CFTR-AS1c.1472G>C (p.Cys491Ser)
c.*1186G>C (n.*1186G>C)
c.1289G>C (p.Cys430Ser)
c.*30G>C (n.*30G>C)
c.*1296G>C (n.*1296G>C)
c.1046G>C (p.Cys349Ser)
c.1382G>C (p.Cys461Ser)
c.1562G>C (p.Cys521Ser)
c.1229G>C (p.Cys410Ser)
n.221+1190C>G
 ClinVar gnomAD v4
7g.117559543G=CA1737384396CFTR,CFTR-AS1c.1472G= (p.Cys491=)
c.*1186G= (n.*1186G=)
c.1289G= (p.Cys430=)
c.*30G= (n.*30G=)
c.*1296G= (n.*1296G=)
c.1046G= (p.Cys349=)
c.1382G= (p.Cys461=)
c.1562G= (p.Cys521=)
c.1229G= (p.Cys410=)
n.221+1190C=
7g.117559543G>TCA4451010CFTR,CFTR-AS1c.1472G>T (p.Cys491Phe)
c.*1186G>T (n.*1186G>T)
c.1289G>T (p.Cys430Phe)
c.*30G>T (n.*30G>T)
c.*1296G>T (n.*1296G>T)
c.1046G>T (p.Cys349Phe)
c.1382G>T (p.Cys461Phe)
c.1562G>T (p.Cys521Phe)
c.1229G>T (p.Cys410Phe)
n.221+1190C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559544T>ACA368984529CFTR,CFTR-AS1c.1473T>A (p.Cys491Ter)
c.*1187T>A (n.*1187T>A)
c.1290T>A (p.Cys430Ter)
c.*31T>A (n.*31T>A)
c.*1297T>A (n.*1297T>A)
c.1047T>A (p.Cys349Ter)
c.1383T>A (p.Cys461Ter)
c.1563T>A (p.Cys521Ter)
c.1230T>A (p.Cys410Ter)
n.221+1189A>T
7g.117559544T>CCA457228805CFTR,CFTR-AS1c.1473T>C (p.Cys491=)
c.*1187T>C (n.*1187T>C)
c.1290T>C (p.Cys430=)
c.*31T>C (n.*31T>C)
c.*1297T>C (n.*1297T>C)
c.1047T>C (p.Cys349=)
c.1383T>C (p.Cys461=)
c.1563T>C (p.Cys521=)
c.1230T>C (p.Cys410=)
n.221+1189A>G
 COSMIC
7g.117559544T>GCA368984530CFTR,CFTR-AS1c.1473T>G (p.Cys491Trp)
c.*1187T>G (n.*1187T>G)
c.1290T>G (p.Cys430Trp)
c.*31T>G (n.*31T>G)
c.*1297T>G (n.*1297T>G)
c.1047T>G (p.Cys349Trp)
c.1383T>G (p.Cys461Trp)
c.1563T>G (p.Cys521Trp)
c.1230T>G (p.Cys410Trp)
n.221+1189A>C
7g.117559545T>ACA368984532CFTR,CFTR-AS1c.1474T>A (p.Ser492Thr)
c.*1188T>A (n.*1188T>A)
c.1291T>A (p.Ser431Thr)
c.*32T>A (n.*32T>A)
c.*1298T>A (n.*1298T>A)
c.1048T>A (p.Ser350Thr)
c.1384T>A (p.Ser462Thr)
c.1564T>A (p.Ser522Thr)
c.1231T>A (p.Ser411Thr)
n.221+1188A>T
7g.117559545T>CCA368984533CFTR,CFTR-AS1c.1474T>C (p.Ser492Pro)
c.*1188T>C (n.*1188T>C)
c.1291T>C (p.Ser431Pro)
c.*32T>C (n.*32T>C)
c.*1298T>C (n.*1298T>C)
c.1048T>C (p.Ser350Pro)
c.1384T>C (p.Ser462Pro)
c.1564T>C (p.Ser522Pro)
c.1231T>C (p.Ser411Pro)
n.221+1188A>G
7g.117559545T>GCA368984535CFTR,CFTR-AS1c.1474T>G (p.Ser492Ala)
c.*1188T>G (n.*1188T>G)
c.1291T>G (p.Ser431Ala)
c.*32T>G (n.*32T>G)
c.*1298T>G (n.*1298T>G)
c.1048T>G (p.Ser350Ala)
c.1384T>G (p.Ser462Ala)
c.1564T>G (p.Ser522Ala)
c.1231T>G (p.Ser411Ala)
n.221+1188A>C
7g.117559546C>ACA368984536CFTR,CFTR-AS1c.1475C>A (p.Ser492Tyr)
c.*1189C>A (n.*1189C>A)
c.1292C>A (p.Ser431Tyr)
c.*33C>A (n.*33C>A)
c.*1299C>A (n.*1299C>A)
c.1049C>A (p.Ser350Tyr)
c.1385C>A (p.Ser462Tyr)
c.1565C>A (p.Ser522Tyr)
c.1232C>A (p.Ser411Tyr)
n.221+1187G>T
7g.117559546C=CA1737384406CFTR,CFTR-AS1c.1475C= (p.Ser492=)
c.*1189C= (n.*1189C=)
c.1292C= (p.Ser431=)
c.*33C= (n.*33C=)
c.*1299C= (n.*1299C=)
c.1049C= (p.Ser350=)
c.1385C= (p.Ser462=)
c.1565C= (p.Ser522=)
c.1232C= (p.Ser411=)
n.221+1187G=
7g.117559546C>GCA368984537CFTR,CFTR-AS1c.1475C>G (p.Ser492Cys)
c.*1189C>G (n.*1189C>G)
c.1292C>G (p.Ser431Cys)
c.*33C>G (n.*33C>G)
c.*1299C>G (n.*1299C>G)
c.1049C>G (p.Ser350Cys)
c.1385C>G (p.Ser462Cys)
c.1565C>G (p.Ser522Cys)
c.1232C>G (p.Ser411Cys)
n.221+1187G>C
7g.117559546C>TCA325551CFTR,CFTR-AS1c.1475C>T (p.Ser492Phe)
c.*1189C>T (n.*1189C>T)
c.1292C>T (p.Ser431Phe)
c.*33C>T (n.*33C>T)
c.*1299C>T (n.*1299C>T)
c.1049C>T (p.Ser350Phe)
c.1385C>T (p.Ser462Phe)
c.1565C>T (p.Ser522Phe)
c.1232C>T (p.Ser411Phe)
n.221+1187G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117559547T>ACA457228809CFTR,CFTR-AS1c.1476T>A (p.Ser492=)
c.*1190T>A (n.*1190T>A)
c.1293T>A (p.Ser431=)
c.*34T>A (n.*34T>A)
c.*1300T>A (n.*1300T>A)
c.1050T>A (p.Ser350=)
c.1386T>A (p.Ser462=)
c.1566T>A (p.Ser522=)
c.1233T>A (p.Ser411=)
n.221+1186A>T
7g.117559547T>CCA457228806CFTR,CFTR-AS1c.1476T>C (p.Ser492=)
c.*1190T>C (n.*1190T>C)
c.1293T>C (p.Ser431=)
c.*34T>C (n.*34T>C)
c.*1300T>C (n.*1300T>C)
c.1050T>C (p.Ser350=)
c.1386T>C (p.Ser462=)
c.1566T>C (p.Ser522=)
c.1233T>C (p.Ser411=)
n.221+1186A>G
 gnomAD v4
7g.117559547T>GCA457228808CFTR,CFTR-AS1c.1476T>G (p.Ser492=)
c.*1190T>G (n.*1190T>G)
c.1293T>G (p.Ser431=)
c.*34T>G (n.*34T>G)
c.*1300T>G (n.*1300T>G)
c.1050T>G (p.Ser350=)
c.1386T>G (p.Ser462=)
c.1566T>G (p.Ser522=)
c.1233T>G (p.Ser411=)
n.221+1186A>C
7g.117559547_117559549delinsTCACA1737384413CFTR,CFTR-AS1c.1476_1478delinsTCA (p.Ser492=)
c.*1190_*1192delinsTCA (n.*1190_*1192delinsTCA)
c.1293_1295delinsTCA (p.Ser431=)
c.*34_*36delinsTCA (n.*34_*36delinsTCA)
c.*1300_*1302delinsTCA (n.*1300_*1302delinsTCA)
c.1050_1052delinsTCA (p.Ser350=)
c.1386_1388delinsTCA (p.Ser462=)
c.1566_1568delinsTCA (p.Ser522=)
c.1233_1235delinsTCA (p.Ser411=)
n.221+1184_221+1186delinsTGA
7g.117559548C>ACA368984539CFTR,CFTR-AS1c.1477C>A (p.Gln493Lys)
c.*1191C>A (n.*1191C>A)
c.1294C>A (p.Gln432Lys)
c.*35C>A (n.*35C>A)
c.*1301C>A (n.*1301C>A)
c.1051C>A (p.Gln351Lys)
c.1387C>A (p.Gln463Lys)
c.1567C>A (p.Gln523Lys)
c.1234C>A (p.Gln412Lys)
n.221+1185G>T
 gnomAD v4
7g.117559548C=CA1737384422CFTR,CFTR-AS1c.1477C= (p.Gln493=)
c.*1191C= (n.*1191C=)
c.1294C= (p.Gln432=)
c.*35C= (n.*35C=)
c.*1301C= (n.*1301C=)
c.1051C= (p.Gln351=)
c.1387C= (p.Gln463=)
c.1567C= (p.Gln523=)
c.1234C= (p.Gln412=)
n.221+1185G=
7g.117559548C>GCA368984540CFTR,CFTR-AS1c.1477C>G (p.Gln493Glu)
c.*1191C>G (n.*1191C>G)
c.1294C>G (p.Gln432Glu)
c.*35C>G (n.*35C>G)
c.*1301C>G (n.*1301C>G)
c.1051C>G (p.Gln351Glu)
c.1387C>G (p.Gln463Glu)
c.1567C>G (p.Gln523Glu)
c.1234C>G (p.Gln412Glu)
n.221+1185G>C
7g.117559548C>TCA325518CFTR,CFTR-AS1c.1477C>T (p.Gln493Ter)
c.*1191C>T (n.*1191C>T)
c.1294C>T (p.Gln432Ter)
c.*35C>T (n.*35C>T)
c.*1301C>T (n.*1301C>T)
c.1051C>T (p.Gln351Ter)
c.1387C>T (p.Gln463Ter)
c.1567C>T (p.Gln523Ter)
c.1234C>T (p.Gln412Ter)
n.221+1185G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559548_117559549delCA325605CFTR,CFTR-AS1c.1477_1478del (p.Gln493ValfsTer10)
c.*1191_*1192del (n.*1191_*1192del)
c.1294_1295del (p.Gln432ValfsTer10)
c.*35_*36del (n.*35_*36del)
c.*1301_*1302del (n.*1301_*1302del)
c.1051_1052del (p.Gln351ValfsTer10)
c.1387_1388del (p.Gln463ValfsTer10)
c.1567_1568del (p.Gln523ValfsTer10)
c.1234_1235del (p.Gln412ValfsTer10)
n.221+1184_221+1185del
 ClinVar dbSNP gnomAD v4
7g.117559549A=CA1737384430CFTR,CFTR-AS1c.1478A= (p.Gln493=)
c.*1192A= (n.*1192A=)
c.1295A= (p.Gln432=)
c.*36A= (n.*36A=)
c.*1302A= (n.*1302A=)
c.1052A= (p.Gln351=)
c.1388A= (p.Gln463=)
c.1568A= (p.Gln523=)
c.1235A= (p.Gln412=)
n.221+1184T=
7g.117559549A>CCA326496CFTR,CFTR-AS1c.1478A>C (p.Gln493Pro)
c.*1192A>C (n.*1192A>C)
c.1295A>C (p.Gln432Pro)
c.*36A>C (n.*36A>C)
c.*1302A>C (n.*1302A>C)
c.1052A>C (p.Gln351Pro)
c.1388A>C (p.Gln463Pro)
c.1568A>C (p.Gln523Pro)
c.1235A>C (p.Gln412Pro)
n.221+1184T>G
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117559549A>GCA326498CFTR,CFTR-AS1c.1478A>G (p.Gln493Arg)
c.*1192A>G (n.*1192A>G)
c.1295A>G (p.Gln432Arg)
c.*36A>G (n.*36A>G)
c.*1302A>G (n.*1302A>G)
c.1052A>G (p.Gln351Arg)
c.1388A>G (p.Gln463Arg)
c.1568A>G (p.Gln523Arg)
c.1235A>G (p.Gln412Arg)
n.221+1184T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559549A>TCA368984544CFTR,CFTR-AS1c.1478A>T (p.Gln493Leu)
c.*1192A>T (n.*1192A>T)
c.1295A>T (p.Gln432Leu)
c.*36A>T (n.*36A>T)
c.*1302A>T (n.*1302A>T)
c.1052A>T (p.Gln351Leu)
c.1388A>T (p.Gln463Leu)
c.1568A>T (p.Gln523Leu)
c.1235A>T (p.Gln412Leu)
n.221+1184T>A
 ClinVar dbSNP
7g.117559550G>ACA457228811CFTR,CFTR-AS1c.1479G>A (p.Gln493=)
c.*1193G>A (n.*1193G>A)
c.1296G>A (p.Gln432=)
c.*37G>A (n.*37G>A)
c.*1303G>A (n.*1303G>A)
c.1053G>A (p.Gln351=)
c.1389G>A (p.Gln463=)
c.1569G>A (p.Gln523=)
c.1236G>A (p.Gln412=)
n.221+1183C>T
 ClinVar
7g.117559550G>CCA368984545CFTR,CFTR-AS1c.1479G>C (p.Gln493His)
c.*1193G>C (n.*1193G>C)
c.1296G>C (p.Gln432His)
c.*37G>C (n.*37G>C)
c.*1303G>C (n.*1303G>C)
c.1053G>C (p.Gln351His)
c.1389G>C (p.Gln463His)
c.1569G>C (p.Gln523His)
c.1236G>C (p.Gln412His)
n.221+1183C>G
 ClinVar dbSNP
7g.117559550G=CA1737384441CFTR,CFTR-AS1c.1479G= (p.Gln493=)
c.*1193G= (n.*1193G=)
c.1296G= (p.Gln432=)
c.*37G= (n.*37G=)
c.*1303G= (n.*1303G=)
c.1053G= (p.Gln351=)
c.1389G= (p.Gln463=)
c.1569G= (p.Gln523=)
c.1236G= (p.Gln412=)
n.221+1183C=
7g.117559550G>TCA368984546CFTR,CFTR-AS1c.1479G>T (p.Gln493His)
c.*1193G>T (n.*1193G>T)
c.1296G>T (p.Gln432His)
c.*37G>T (n.*37G>T)
c.*1303G>T (n.*1303G>T)
c.1053G>T (p.Gln351His)
c.1389G>T (p.Gln463His)
c.1569G>T (p.Gln523His)
c.1236G>T (p.Gln412His)
n.221+1183C>A
7g.117559550_117559552delinsGTTCA1737384442CFTR,CFTR-AS1c.1479_1481delinsGTT (p.Gln493=)
c.*1193_*1195delinsGTT (n.*1193_*1195delinsGTT)
c.1296_1298delinsGTT (p.Gln432=)
c.*37_*39delinsGTT (n.*37_*39delinsGTT)
c.*1303_*1305delinsGTT (n.*1303_*1305delinsGTT)
c.1053_1055delinsGTT (p.Gln351=)
c.1389_1391delinsGTT (p.Gln463=)
c.1569_1571delinsGTT (p.Gln523=)
c.1236_1238delinsGTT (p.Gln412=)
n.221+1181_221+1183delinsAAC
7g.117559550_117559565delinsCCTTCA2695208321CFTR,CFTR-AS1c.1479_1494delinsCCTT (p.Gln493_Met498delinsHisLeu)
c.*1193_*1208delinsCCTT (n.*1193_*1208delinsCCTT)
c.1296_1311delinsCCTT (p.Gln432_Met437delinsHisLeu)
c.*37_*52delinsCCTT (n.*37_*52delinsCCTT)
c.*1303_*1318delinsCCTT (n.*1303_*1318delinsCCTT)
c.1053_1068delinsCCTT (p.Gln351_Met356delinsHisLeu)
c.1389_1404delinsCCTT (p.Gln463_Met468delinsHisLeu)
c.1569_1584delinsCCTT (p.Gln523_Met528delinsHisLeu)
c.1236_1251delinsCCTT (p.Gln412_Met417delinsHisLeu)
n.221+1168_221+1183delinsAAGG
7g.117559551T>ACA368984548CFTR,CFTR-AS1c.1480T>A (p.Phe494Ile)
c.*1194T>A (n.*1194T>A)
c.1297T>A (p.Phe433Ile)
c.*38T>A (n.*38T>A)
c.*1304T>A (n.*1304T>A)
c.1054T>A (p.Phe352Ile)
c.1390T>A (p.Phe464Ile)
c.1570T>A (p.Phe524Ile)
c.1237T>A (p.Phe413Ile)
n.221+1182A>T
7g.117559551T>CCA368984549CFTR,CFTR-AS1c.1480T>C (p.Phe494Leu)
c.*1194T>C (n.*1194T>C)
c.1297T>C (p.Phe433Leu)
c.*38T>C (n.*38T>C)
c.*1304T>C (n.*1304T>C)
c.1054T>C (p.Phe352Leu)
c.1390T>C (p.Phe464Leu)
c.1570T>C (p.Phe524Leu)
c.1237T>C (p.Phe413Leu)
n.221+1182A>G
7g.117559551T>GCA368984551CFTR,CFTR-AS1c.1480T>G (p.Phe494Val)
c.*1194T>G (n.*1194T>G)
c.1297T>G (p.Phe433Val)
c.*38T>G (n.*38T>G)
c.*1304T>G (n.*1304T>G)
c.1054T>G (p.Phe352Val)
c.1390T>G (p.Phe464Val)
c.1570T>G (p.Phe524Val)
c.1237T>G (p.Phe413Val)
n.221+1182A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117559551T=CA1737384445CFTR,CFTR-AS1c.1480T= (p.Phe494=)
c.*1194T= (n.*1194T=)
c.1297T= (p.Phe433=)
c.*38T= (n.*38T=)
c.*1304T= (n.*1304T=)
c.1054T= (p.Phe352=)
c.1390T= (p.Phe464=)
c.1570T= (p.Phe524=)
c.1237T= (p.Phe413=)
n.221+1182A=
7g.117559554delCA2580076302CFTR,CFTR-AS1c.1483del (p.Ser495ProfsTer?)
c.*1197del (n.*1197del)
c.1300del (p.Ser434ProfsTer?)
c.*41del (n.*41del)
c.*1307del (n.*1307del)
c.1057del (p.Ser353ProfsTer?)
c.1393del (p.Ser465ProfsTer?)
c.1573del (p.Ser525ProfsTer?)
c.1240del (p.Ser414ProfsTer?)
n.221+1182del
 ClinVar
7g.117559553_117559554delCA326500CFTR,CFTR-AS1c.1482_1483del (p.Ser495LeufsTer8)
c.*1196_*1197del (n.*1196_*1197del)
c.1299_1300del (p.Ser434LeufsTer8)
c.*40_*41del (n.*40_*41del)
c.*1306_*1307del (n.*1306_*1307del)
c.1056_1057del (p.Ser353LeufsTer8)
c.1392_1393del (p.Ser465LeufsTer8)
c.1572_1573del (p.Ser525LeufsTer8)
c.1239_1240del (p.Ser414LeufsTer8)
n.221+1181_221+1182del
 dbSNP
7g.117559552T>ACA368984552CFTR,CFTR-AS1c.1481T>A (p.Phe494Tyr)
c.*1195T>A (n.*1195T>A)
c.1298T>A (p.Phe433Tyr)
c.*39T>A (n.*39T>A)
c.*1305T>A (n.*1305T>A)
c.1055T>A (p.Phe352Tyr)
c.1391T>A (p.Phe464Tyr)
c.1571T>A (p.Phe524Tyr)
c.1238T>A (p.Phe413Tyr)
n.221+1181A>T
7g.117559552T>CCA368984554CFTR,CFTR-AS1c.1481T>C (p.Phe494Ser)
c.*1195T>C (n.*1195T>C)
c.1298T>C (p.Phe433Ser)
c.*39T>C (n.*39T>C)
c.*1305T>C (n.*1305T>C)
c.1055T>C (p.Phe352Ser)
c.1391T>C (p.Phe464Ser)
c.1571T>C (p.Phe524Ser)
c.1238T>C (p.Phe413Ser)
n.221+1181A>G
7g.117559552T>GCA368984555CFTR,CFTR-AS1c.1481T>G (p.Phe494Cys)
c.*1195T>G (n.*1195T>G)
c.1298T>G (p.Phe433Cys)
c.*39T>G (n.*39T>G)
c.*1305T>G (n.*1305T>G)
c.1055T>G (p.Phe352Cys)
c.1391T>G (p.Phe464Cys)
c.1571T>G (p.Phe524Cys)
c.1238T>G (p.Phe413Cys)
n.221+1181A>C
7g.117559553T>ACA368984557CFTR,CFTR-AS1c.1482T>A (p.Phe494Leu)
c.*1196T>A (n.*1196T>A)
c.1299T>A (p.Phe433Leu)
c.*40T>A (n.*40T>A)
c.*1306T>A (n.*1306T>A)
c.1056T>A (p.Phe352Leu)
c.1392T>A (p.Phe464Leu)
c.1572T>A (p.Phe524Leu)
c.1239T>A (p.Phe413Leu)
n.221+1180A>T
7g.117559553T>CCA457228814CFTR,CFTR-AS1c.1482T>C (p.Phe494=)
c.*1196T>C (n.*1196T>C)
c.1299T>C (p.Phe433=)
c.*40T>C (n.*40T>C)
c.*1306T>C (n.*1306T>C)
c.1056T>C (p.Phe352=)
c.1392T>C (p.Phe464=)
c.1572T>C (p.Phe524=)
c.1239T>C (p.Phe413=)
n.221+1180A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559553T>GCA368984558CFTR,CFTR-AS1c.1482T>G (p.Phe494Leu)
c.*1196T>G (n.*1196T>G)
c.1299T>G (p.Phe433Leu)
c.*40T>G (n.*40T>G)
c.*1306T>G (n.*1306T>G)
c.1056T>G (p.Phe352Leu)
c.1392T>G (p.Phe464Leu)
c.1572T>G (p.Phe524Leu)
c.1239T>G (p.Phe413Leu)
n.221+1180A>C
7g.117559553T=CA1737384450CFTR,CFTR-AS1c.1482T= (p.Phe494=)
c.*1196T= (n.*1196T=)
c.1299T= (p.Phe433=)
c.*40T= (n.*40T=)
c.*1306T= (n.*1306T=)
c.1056T= (p.Phe352=)
c.1392T= (p.Phe464=)
c.1572T= (p.Phe524=)
c.1239T= (p.Phe413=)
n.221+1180A=
7g.117559554T>ACA368984560CFTR,CFTR-AS1c.1483T>A (p.Ser495Thr)
c.*1197T>A (n.*1197T>A)
c.1300T>A (p.Ser434Thr)
c.*41T>A (n.*41T>A)
c.*1307T>A (n.*1307T>A)
c.1057T>A (p.Ser353Thr)
c.1393T>A (p.Ser465Thr)
c.1573T>A (p.Ser525Thr)
c.1240T>A (p.Ser414Thr)
n.221+1179A>T
7g.117559554T>CCA368984562CFTR,CFTR-AS1c.1483T>C (p.Ser495Pro)
c.*1197T>C (n.*1197T>C)
c.1300T>C (p.Ser434Pro)
c.*41T>C (n.*41T>C)
c.*1307T>C (n.*1307T>C)
c.1057T>C (p.Ser353Pro)
c.1393T>C (p.Ser465Pro)
c.1573T>C (p.Ser525Pro)
c.1240T>C (p.Ser414Pro)
n.221+1179A>G
7g.117559554T>GCA368984563CFTR,CFTR-AS1c.1483T>G (p.Ser495Ala)
c.*1197T>G (n.*1197T>G)
c.1300T>G (p.Ser434Ala)
c.*41T>G (n.*41T>G)
c.*1307T>G (n.*1307T>G)
c.1057T>G (p.Ser353Ala)
c.1393T>G (p.Ser465Ala)
c.1573T>G (p.Ser525Ala)
c.1240T>G (p.Ser414Ala)
n.221+1179A>C
 dbSNP
7g.117559554T=CA1737384452CFTR,CFTR-AS1c.1483T= (p.Ser495=)
c.*1197T= (n.*1197T=)
c.1300T= (p.Ser434=)
c.*41T= (n.*41T=)
c.*1307T= (n.*1307T=)
c.1057T= (p.Ser353=)
c.1393T= (p.Ser465=)
c.1573T= (p.Ser525=)
c.1240T= (p.Ser414=)
n.221+1179A=
7g.117559555C>ACA368984566CFTR,CFTR-AS1c.1484C>A (p.Ser495Tyr)
c.*1198C>A (n.*1198C>A)
c.1301C>A (p.Ser434Tyr)
c.*42C>A (n.*42C>A)
c.*1308C>A (n.*1308C>A)
c.1058C>A (p.Ser353Tyr)
c.1394C>A (p.Ser465Tyr)
c.1574C>A (p.Ser525Tyr)
c.1241C>A (p.Ser414Tyr)
n.221+1178G>T
 ClinVar
7g.117559555C=CA1737384457CFTR,CFTR-AS1c.1484C= (p.Ser495=)
c.*1198C= (n.*1198C=)
c.1301C= (p.Ser434=)
c.*42C= (n.*42C=)
c.*1308C= (n.*1308C=)
c.1058C= (p.Ser353=)
c.1394C= (p.Ser465=)
c.1574C= (p.Ser525=)
c.1241C= (p.Ser414=)
n.221+1178G=
7g.117559555C>GCA368984567CFTR,CFTR-AS1c.1484C>G (p.Ser495Cys)
c.*1198C>G (n.*1198C>G)
c.1301C>G (p.Ser434Cys)
c.*42C>G (n.*42C>G)
c.*1308C>G (n.*1308C>G)
c.1058C>G (p.Ser353Cys)
c.1394C>G (p.Ser465Cys)
c.1574C>G (p.Ser525Cys)
c.1241C>G (p.Ser414Cys)
n.221+1178G>C
 ClinVar
7g.117559555C>TCA164967725CFTR,CFTR-AS1c.1484C>T (p.Ser495Phe)
c.*1198C>T (n.*1198C>T)
c.1301C>T (p.Ser434Phe)
c.*42C>T (n.*42C>T)
c.*1308C>T (n.*1308C>T)
c.1058C>T (p.Ser353Phe)
c.1394C>T (p.Ser465Phe)
c.1574C>T (p.Ser525Phe)
c.1241C>T (p.Ser414Phe)
n.221+1178G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117559556C>ACA457228819CFTR,CFTR-AS1c.1485C>A (p.Ser495=)
c.*1199C>A (n.*1199C>A)
c.1302C>A (p.Ser434=)
c.*43C>A (n.*43C>A)
c.*1309C>A (n.*1309C>A)
c.1059C>A (p.Ser353=)
c.1395C>A (p.Ser465=)
c.1575C>A (p.Ser525=)
c.1242C>A (p.Ser414=)
n.221+1177G>T
7g.117559556C>GCA457228818CFTR,CFTR-AS1c.1485C>G (p.Ser495=)
c.*1199C>G (n.*1199C>G)
c.1302C>G (p.Ser434=)
c.*43C>G (n.*43C>G)
c.*1309C>G (n.*1309C>G)
c.1059C>G (p.Ser353=)
c.1395C>G (p.Ser465=)
c.1575C>G (p.Ser525=)
c.1242C>G (p.Ser414=)
n.221+1177G>C
 ClinVar
7g.117559556C>TCA457228817CFTR,CFTR-AS1c.1485C>T (p.Ser495=)
c.*1199C>T (n.*1199C>T)
c.1302C>T (p.Ser434=)
c.*43C>T (n.*43C>T)
c.*1309C>T (n.*1309C>T)
c.1059C>T (p.Ser353=)
c.1395C>T (p.Ser465=)
c.1575C>T (p.Ser525=)
c.1242C>T (p.Ser414=)
n.221+1177G>A
7g.117559556_117559557delinsCTCA1737384465CFTR,CFTR-AS1c.1485_1486delinsCT (p.Ser495=)
c.*1199_*1200delinsCT (n.*1199_*1200delinsCT)
c.1302_1303delinsCT (p.Ser434=)
c.*43_*44delinsCT (n.*43_*44delinsCT)
c.*1309_*1310delinsCT (n.*1309_*1310delinsCT)
c.1059_1060delinsCT (p.Ser353=)
c.1395_1396delinsCT (p.Ser465=)
c.1575_1576delinsCT (p.Ser525=)
c.1242_1243delinsCT (p.Ser414=)
n.221+1176_221+1177delinsAG
7g.117559557delCA915945483CFTR,CFTR-AS1c.1486del (p.Trp496GlyfsTer?)
c.*1200del (n.*1200del)
c.1303del (p.Trp435GlyfsTer?)
c.*44del (n.*44del)
c.*1310del (n.*1310del)
c.1060del (p.Trp354GlyfsTer?)
c.1396del (p.Trp466GlyfsTer?)
c.1576del (p.Trp526GlyfsTer?)
c.1243del (p.Trp415GlyfsTer?)
n.221+1176del
 ClinVar dbSNP
7g.117559557T>ACA368984569CFTR,CFTR-AS1c.1486T>A (p.Trp496Arg)
c.*1200T>A (n.*1200T>A)
c.1303T>A (p.Trp435Arg)
c.*44T>A (n.*44T>A)
c.*1310T>A (n.*1310T>A)
c.1060T>A (p.Trp354Arg)
c.1396T>A (p.Trp466Arg)
c.1576T>A (p.Trp526Arg)
c.1243T>A (p.Trp415Arg)
n.221+1176A>T
7g.117559557T>CCA368984571CFTR,CFTR-AS1c.1486T>C (p.Trp496Arg)
c.*1200T>C (n.*1200T>C)
c.1303T>C (p.Trp435Arg)
c.*44T>C (n.*44T>C)
c.*1310T>C (n.*1310T>C)
c.1060T>C (p.Trp354Arg)
c.1396T>C (p.Trp466Arg)
c.1576T>C (p.Trp526Arg)
c.1243T>C (p.Trp415Arg)
n.221+1176A>G
 ClinVar dbSNP gnomAD v4
7g.117559557T>GCA368984573CFTR,CFTR-AS1c.1486T>G (p.Trp496Gly)
c.*1200T>G (n.*1200T>G)
c.1303T>G (p.Trp435Gly)
c.*44T>G (n.*44T>G)
c.*1310T>G (n.*1310T>G)
c.1060T>G (p.Trp354Gly)
c.1396T>G (p.Trp466Gly)
c.1576T>G (p.Trp526Gly)
c.1243T>G (p.Trp415Gly)
n.221+1176A>C
7g.117559557T=CA1737384478CFTR,CFTR-AS1c.1486T= (p.Trp496=)
c.*1200T= (n.*1200T=)
c.1303T= (p.Trp435=)
c.*44T= (n.*44T=)
c.*1310T= (n.*1310T=)
c.1060T= (p.Trp354=)
c.1396T= (p.Trp466=)
c.1576T= (p.Trp526=)
c.1243T= (p.Trp415=)
n.221+1176A=
7g.117559558G>ACA326501CFTR,CFTR-AS1c.1487G>A (p.Trp496Ter)
c.*1201G>A (n.*1201G>A)
c.1304G>A (p.Trp435Ter)
c.*45G>A (n.*45G>A)
c.*1311G>A (n.*1311G>A)
c.1061G>A (p.Trp354Ter)
c.1397G>A (p.Trp466Ter)
c.1577G>A (p.Trp526Ter)
c.1244G>A (p.Trp415Ter)
n.221+1175C>T
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117559558G>CCA368984574CFTR,CFTR-AS1c.1487G>C (p.Trp496Ser)
c.*1201G>C (n.*1201G>C)
c.1304G>C (p.Trp435Ser)
c.*45G>C (n.*45G>C)
c.*1311G>C (n.*1311G>C)
c.1061G>C (p.Trp354Ser)
c.1397G>C (p.Trp466Ser)
c.1577G>C (p.Trp526Ser)
c.1244G>C (p.Trp415Ser)
n.221+1175C>G
7g.117559558G=CA1737384487CFTR,CFTR-AS1c.1487G= (p.Trp496=)
c.*1201G= (n.*1201G=)
c.1304G= (p.Trp435=)
c.*45G= (n.*45G=)
c.*1311G= (n.*1311G=)
c.1061G= (p.Trp354=)
c.1397G= (p.Trp466=)
c.1577G= (p.Trp526=)
c.1244G= (p.Trp415=)
n.221+1175C=
7g.117559558G>TCA368984576CFTR,CFTR-AS1c.1487G>T (p.Trp496Leu)
c.*1201G>T (n.*1201G>T)
c.1304G>T (p.Trp435Leu)
c.*45G>T (n.*45G>T)
c.*1311G>T (n.*1311G>T)
c.1061G>T (p.Trp354Leu)
c.1397G>T (p.Trp466Leu)
c.1577G>T (p.Trp526Leu)
c.1244G>T (p.Trp415Leu)
n.221+1175C>A
7g.117559559G>ACA164967727CFTR,CFTR-AS1c.1488G>A (p.Trp496Ter)
c.*1202G>A (n.*1202G>A)
c.1305G>A (p.Trp435Ter)
c.*46G>A (n.*46G>A)
c.*1312G>A (n.*1312G>A)
c.1062G>A (p.Trp354Ter)
c.1398G>A (p.Trp466Ter)
c.1578G>A (p.Trp526Ter)
c.1245G>A (p.Trp415Ter)
n.221+1174C>T
 ClinVar dbSNP
7g.117559559G>CCA164967729CFTR,CFTR-AS1c.1488G>C (p.Trp496Cys)
c.*1202G>C (n.*1202G>C)
c.1305G>C (p.Trp435Cys)
c.*46G>C (n.*46G>C)
c.*1312G>C (n.*1312G>C)
c.1062G>C (p.Trp354Cys)
c.1398G>C (p.Trp466Cys)
c.1578G>C (p.Trp526Cys)
c.1245G>C (p.Trp415Cys)
n.221+1174C>G
 dbSNP gnomAD v3 gnomAD v4
7g.117559559G=CA1737384490CFTR,CFTR-AS1c.1488G= (p.Trp496=)
c.*1202G= (n.*1202G=)
c.1305G= (p.Trp435=)
c.*46G= (n.*46G=)
c.*1312G= (n.*1312G=)
c.1062G= (p.Trp354=)
c.1398G= (p.Trp466=)
c.1578G= (p.Trp526=)
c.1245G= (p.Trp415=)
n.221+1174C=
7g.117559559G>TCA368984578CFTR,CFTR-AS1c.1488G>T (p.Trp496Cys)
c.*1202G>T (n.*1202G>T)
c.1305G>T (p.Trp435Cys)
c.*46G>T (n.*46G>T)
c.*1312G>T (n.*1312G>T)
c.1062G>T (p.Trp354Cys)
c.1398G>T (p.Trp466Cys)
c.1578G>T (p.Trp526Cys)
c.1245G>T (p.Trp415Cys)
n.221+1174C>A
 gnomAD v4
7g.117559560A>CCA368984580CFTR,CFTR-AS1c.1489A>C (p.Ile497Leu)
c.*1203A>C (n.*1203A>C)
c.1306A>C (p.Ile436Leu)
c.*47A>C (n.*47A>C)
c.*1313A>C (n.*1313A>C)
c.1063A>C (p.Ile355Leu)
c.1399A>C (p.Ile467Leu)
c.1579A>C (p.Ile527Leu)
c.1246A>C (p.Ile416Leu)
n.221+1173T>G
7g.117559560A>GCA368984581CFTR,CFTR-AS1c.1489A>G (p.Ile497Val)
c.*1203A>G (n.*1203A>G)
c.1306A>G (p.Ile436Val)
c.*47A>G (n.*47A>G)
c.*1313A>G (n.*1313A>G)
c.1063A>G (p.Ile355Val)
c.1399A>G (p.Ile467Val)
c.1579A>G (p.Ile527Val)
c.1246A>G (p.Ile416Val)
n.221+1173T>C
 gnomAD v4
7g.117559560A>TCA368984582CFTR,CFTR-AS1c.1489A>T (p.Ile497Phe)
c.*1203A>T (n.*1203A>T)
c.1306A>T (p.Ile436Phe)
c.*47A>T (n.*47A>T)
c.*1313A>T (n.*1313A>T)
c.1063A>T (p.Ile355Phe)
c.1399A>T (p.Ile467Phe)
c.1579A>T (p.Ile527Phe)
c.1246A>T (p.Ile416Phe)
n.221+1173T>A
 gnomAD v4
7g.117559564_117559578delCA2573052806CFTR,CFTR-AS1c.1493_1507del (p.Met498_Ile502del)
c.*1207_*1221del (n.*1207_*1221del)
c.1310_1324del (p.Met437_Ile441del)
c.*51_*65del (n.*51_*65del)
c.*1317_*1331del (n.*1317_*1331del)
c.1067_1081del (p.Met356_Ile360del)
c.1403_1417del (p.Met468_Ile472del)
c.1583_1597del (p.Met528_Ile532del)
c.1250_1264del (p.Met417_Ile421del)
n.221+1159_221+1173del
 ClinVar dbSNP
7g.117559561T>ACA368984584CFTR,CFTR-AS1c.1490T>A (p.Ile497Asn)
c.*1204T>A (n.*1204T>A)
c.1307T>A (p.Ile436Asn)
c.*48T>A (n.*48T>A)
c.*1314T>A (n.*1314T>A)
c.1064T>A (p.Ile355Asn)
c.1400T>A (p.Ile467Asn)
c.1580T>A (p.Ile527Asn)
c.1247T>A (p.Ile416Asn)
n.221+1172A>T
7g.117559561T>CCA368984586CFTR,CFTR-AS1c.1490T>C (p.Ile497Thr)
c.*1204T>C (n.*1204T>C)
c.1307T>C (p.Ile436Thr)
c.*48T>C (n.*48T>C)
c.*1314T>C (n.*1314T>C)
c.1064T>C (p.Ile355Thr)
c.1400T>C (p.Ile467Thr)
c.1580T>C (p.Ile527Thr)
c.1247T>C (p.Ile416Thr)
n.221+1172A>G
7g.117559561T>GCA368984588CFTR,CFTR-AS1c.1490T>G (p.Ile497Ser)
c.*1204T>G (n.*1204T>G)
c.1307T>G (p.Ile436Ser)
c.*48T>G (n.*48T>G)
c.*1314T>G (n.*1314T>G)
c.1064T>G (p.Ile355Ser)
c.1400T>G (p.Ile467Ser)
c.1580T>G (p.Ile527Ser)
c.1247T>G (p.Ile416Ser)
n.221+1172A>C
 ClinVar dbSNP
7g.117559561T=CA1737384498CFTR,CFTR-AS1c.1490T= (p.Ile497=)
c.*1204T= (n.*1204T=)
c.1307T= (p.Ile436=)
c.*48T= (n.*48T=)
c.*1314T= (n.*1314T=)
c.1064T= (p.Ile355=)
c.1400T= (p.Ile467=)
c.1580T= (p.Ile527=)
c.1247T= (p.Ile416=)
n.221+1172A=
7g.117559562T>ACA457228824CFTR,CFTR-AS1c.1491T>A (p.Ile497=)
c.*1205T>A (n.*1205T>A)
c.1308T>A (p.Ile436=)
c.*49T>A (n.*49T>A)
c.*1315T>A (n.*1315T>A)
c.1065T>A (p.Ile355=)
c.1401T>A (p.Ile467=)
c.1581T>A (p.Ile527=)
c.1248T>A (p.Ile416=)
n.221+1171A>T
7g.117559562T>CCA457228825CFTR,CFTR-AS1c.1491T>C (p.Ile497=)
c.*1205T>C (n.*1205T>C)
c.1308T>C (p.Ile436=)
c.*49T>C (n.*49T>C)
c.*1315T>C (n.*1315T>C)
c.1065T>C (p.Ile355=)
c.1401T>C (p.Ile467=)
c.1581T>C (p.Ile527=)
c.1248T>C (p.Ile416=)
n.221+1171A>G
7g.117559562T>GCA368984590CFTR,CFTR-AS1c.1491T>G (p.Ile497Met)
c.*1205T>G (n.*1205T>G)
c.1308T>G (p.Ile436Met)
c.*49T>G (n.*49T>G)
c.*1315T>G (n.*1315T>G)
c.1065T>G (p.Ile355Met)
c.1401T>G (p.Ile467Met)
c.1581T>G (p.Ile527Met)
c.1248T>G (p.Ile416Met)
n.221+1171A>C
7g.117559563A=CA1737384505CFTR,CFTR-AS1c.1492A= (p.Met498=)
c.*1206A= (n.*1206A=)
c.1309A= (p.Met437=)
c.*50A= (n.*50A=)
c.*1316A= (n.*1316A=)
c.1066A= (p.Met356=)
c.1402A= (p.Met468=)
c.1582A= (p.Met528=)
c.1249A= (p.Met417=)
n.221+1170T=
7g.117559563A>CCA368984592CFTR,CFTR-AS1c.1492A>C (p.Met498Leu)
c.*1206A>C (n.*1206A>C)
c.1309A>C (p.Met437Leu)
c.*50A>C (n.*50A>C)
c.*1316A>C (n.*1316A>C)
c.1066A>C (p.Met356Leu)
c.1402A>C (p.Met468Leu)
c.1582A>C (p.Met528Leu)
c.1249A>C (p.Met417Leu)
n.221+1170T>G
7g.117559563A>GCA368984594CFTR,CFTR-AS1c.1492A>G (p.Met498Val)
c.*1206A>G (n.*1206A>G)
c.1309A>G (p.Met437Val)
c.*50A>G (n.*50A>G)
c.*1316A>G (n.*1316A>G)
c.1066A>G (p.Met356Val)
c.1402A>G (p.Met468Val)
c.1582A>G (p.Met528Val)
c.1249A>G (p.Met417Val)
n.221+1170T>C
 ClinVar dbSNP gnomAD v4
7g.117559563A>TCA368984596CFTR,CFTR-AS1c.1492A>T (p.Met498Leu)
c.*1206A>T (n.*1206A>T)
c.1309A>T (p.Met437Leu)
c.*50A>T (n.*50A>T)
c.*1316A>T (n.*1316A>T)
c.1066A>T (p.Met356Leu)
c.1402A>T (p.Met468Leu)
c.1582A>T (p.Met528Leu)
c.1249A>T (p.Met417Leu)
n.221+1170T>A
7g.117559564T>ACA368984597CFTR,CFTR-AS1c.1493T>A (p.Met498Lys)
c.*1207T>A (n.*1207T>A)
c.1310T>A (p.Met437Lys)
c.*51T>A (n.*51T>A)
c.*1317T>A (n.*1317T>A)
c.1067T>A (p.Met356Lys)
c.1403T>A (p.Met468Lys)
c.1583T>A (p.Met528Lys)
c.1250T>A (p.Met417Lys)
n.221+1169A>T
7g.117559564T>CCA368984599CFTR,CFTR-AS1c.1493T>C (p.Met498Thr)
c.*1207T>C (n.*1207T>C)
c.1310T>C (p.Met437Thr)
c.*51T>C (n.*51T>C)
c.*1317T>C (n.*1317T>C)
c.1067T>C (p.Met356Thr)
c.1403T>C (p.Met468Thr)
c.1583T>C (p.Met528Thr)
c.1250T>C (p.Met417Thr)
n.221+1169A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117559564T>GCA368984601CFTR,CFTR-AS1c.1493T>G (p.Met498Arg)
c.*1207T>G (n.*1207T>G)
c.1310T>G (p.Met437Arg)
c.*51T>G (n.*51T>G)
c.*1317T>G (n.*1317T>G)
c.1067T>G (p.Met356Arg)
c.1403T>G (p.Met468Arg)
c.1583T>G (p.Met528Arg)
c.1250T>G (p.Met417Arg)
n.221+1169A>C
7g.117559564T=CA1737384508CFTR,CFTR-AS1c.1493T= (p.Met498=)
c.*1207T= (n.*1207T=)
c.1310T= (p.Met437=)
c.*51T= (n.*51T=)
c.*1317T= (n.*1317T=)
c.1067T= (p.Met356=)
c.1403T= (p.Met468=)
c.1583T= (p.Met528=)
c.1250T= (p.Met417=)
n.221+1169A=
7g.117559565G>ACA368984604CFTR,CFTR-AS1c.1494G>A (p.Met498Ile)
c.*1208G>A (n.*1208G>A)
c.1311G>A (p.Met437Ile)
c.*52G>A (n.*52G>A)
c.*1318G>A (n.*1318G>A)
c.1068G>A (p.Met356Ile)
c.1404G>A (p.Met468Ile)
c.1584G>A (p.Met528Ile)
c.1251G>A (p.Met417Ile)
n.221+1168C>T
7g.117559565G>CCA326505CFTR,CFTR-AS1c.1494G>C (p.Met498Ile)
c.*1208G>C (n.*1208G>C)
c.1311G>C (p.Met437Ile)
c.*52G>C (n.*52G>C)
c.*1318G>C (n.*1318G>C)
c.1068G>C (p.Met356Ile)
c.1404G>C (p.Met468Ile)
c.1584G>C (p.Met528Ile)
c.1251G>C (p.Met417Ile)
n.221+1168C>G
 dbSNP
7g.117559565G=CA1737384513CFTR,CFTR-AS1c.1494G= (p.Met498=)
c.*1208G= (n.*1208G=)
c.1311G= (p.Met437=)
c.*52G= (n.*52G=)
c.*1318G= (n.*1318G=)
c.1068G= (p.Met356=)
c.1404G= (p.Met468=)
c.1584G= (p.Met528=)
c.1251G= (p.Met417=)
n.221+1168C=
7g.117559565G>TCA368984603CFTR,CFTR-AS1c.1494G>T (p.Met498Ile)
c.*1208G>T (n.*1208G>T)
c.1311G>T (p.Met437Ile)
c.*52G>T (n.*52G>T)
c.*1318G>T (n.*1318G>T)
c.1068G>T (p.Met356Ile)
c.1404G>T (p.Met468Ile)
c.1584G>T (p.Met528Ile)
c.1251G>T (p.Met417Ile)
n.221+1168C>A
7g.117559566C>ACA368984605CFTR,CFTR-AS1c.1495C>A (p.Pro499Thr)
c.*1209C>A (n.*1209C>A)
c.1312C>A (p.Pro438Thr)
c.*53C>A (n.*53C>A)
c.*1319C>A (n.*1319C>A)
c.1069C>A (p.Pro357Thr)
c.1405C>A (p.Pro469Thr)
c.1585C>A (p.Pro529Thr)
c.1252C>A (p.Pro418Thr)
n.221+1167G>T
 ClinVar dbSNP gnomAD v4
7g.117559566C=CA1737384520CFTR,CFTR-AS1c.1495C= (p.Pro499=)
c.*1209C= (n.*1209C=)
c.1312C= (p.Pro438=)
c.*53C= (n.*53C=)
c.*1319C= (n.*1319C=)
c.1069C= (p.Pro357=)
c.1405C= (p.Pro469=)
c.1585C= (p.Pro529=)
c.1252C= (p.Pro418=)
n.221+1167G=
7g.117559566C>GCA326507CFTR,CFTR-AS1c.1495C>G (p.Pro499Ala)
c.*1209C>G (n.*1209C>G)
c.1312C>G (p.Pro438Ala)
c.*53C>G (n.*53C>G)
c.*1319C>G (n.*1319C>G)
c.1069C>G (p.Pro357Ala)
c.1405C>G (p.Pro469Ala)
c.1585C>G (p.Pro529Ala)
c.1252C>G (p.Pro418Ala)
n.221+1167G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559566C>TCA368984606CFTR,CFTR-AS1c.1495C>T (p.Pro499Ser)
c.*1209C>T (n.*1209C>T)
c.1312C>T (p.Pro438Ser)
c.*53C>T (n.*53C>T)
c.*1319C>T (n.*1319C>T)
c.1069C>T (p.Pro357Ser)
c.1405C>T (p.Pro469Ser)
c.1585C>T (p.Pro529Ser)
c.1252C>T (p.Pro418Ser)
n.221+1167G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559567C>ACA368984607CFTR,CFTR-AS1c.1496C>A (p.Pro499His)
c.*1210C>A (n.*1210C>A)
c.1313C>A (p.Pro438His)
c.*54C>A (n.*54C>A)
c.*1320C>A (n.*1320C>A)
c.1070C>A (p.Pro357His)
c.1406C>A (p.Pro469His)
c.1586C>A (p.Pro529His)
c.1253C>A (p.Pro418His)
n.221+1166G>T
7g.117559567C=CA1737384526CFTR,CFTR-AS1c.1496C= (p.Pro499=)
c.*1210C= (n.*1210C=)
c.1313C= (p.Pro438=)
c.*54C= (n.*54C=)
c.*1320C= (n.*1320C=)
c.1070C= (p.Pro357=)
c.1406C= (p.Pro469=)
c.1586C= (p.Pro529=)
c.1253C= (p.Pro418=)
n.221+1166G=
7g.117559567C>GCA368984611CFTR,CFTR-AS1c.1496C>G (p.Pro499Arg)
c.*1210C>G (n.*1210C>G)
c.1313C>G (p.Pro438Arg)
c.*54C>G (n.*54C>G)
c.*1320C>G (n.*1320C>G)
c.1070C>G (p.Pro357Arg)
c.1406C>G (p.Pro469Arg)
c.1586C>G (p.Pro529Arg)
c.1253C>G (p.Pro418Arg)
n.221+1166G>C
7g.117559567C>TCA368984613CFTR,CFTR-AS1c.1496C>T (p.Pro499Leu)
c.*1210C>T (n.*1210C>T)
c.1313C>T (p.Pro438Leu)
c.*54C>T (n.*54C>T)
c.*1320C>T (n.*1320C>T)
c.1070C>T (p.Pro357Leu)
c.1406C>T (p.Pro469Leu)
c.1586C>T (p.Pro529Leu)
c.1253C>T (p.Pro418Leu)
n.221+1166G>A
 ClinVar dbSNP
7g.117559568T>ACA457228827CFTR,CFTR-AS1c.1497T>A (p.Pro499=)
c.*1211T>A (n.*1211T>A)
c.1314T>A (p.Pro438=)
c.*55T>A (n.*55T>A)
c.*1321T>A (n.*1321T>A)
c.1071T>A (p.Pro357=)
c.1407T>A (p.Pro469=)
c.1587T>A (p.Pro529=)
c.1254T>A (p.Pro418=)
n.221+1165A>T
7g.117559568T>CCA457228829CFTR,CFTR-AS1c.1497T>C (p.Pro499=)
c.*1211T>C (n.*1211T>C)
c.1314T>C (p.Pro438=)
c.*55T>C (n.*55T>C)
c.*1321T>C (n.*1321T>C)
c.1071T>C (p.Pro357=)
c.1407T>C (p.Pro469=)
c.1587T>C (p.Pro529=)
c.1254T>C (p.Pro418=)
n.221+1165A>G
 dbSNP gnomAD v2 gnomAD v4
7g.117559568T>GCA457228830CFTR,CFTR-AS1c.1497T>G (p.Pro499=)
c.*1211T>G (n.*1211T>G)
c.1314T>G (p.Pro438=)
c.*55T>G (n.*55T>G)
c.*1321T>G (n.*1321T>G)
c.1071T>G (p.Pro357=)
c.1407T>G (p.Pro469=)
c.1587T>G (p.Pro529=)
c.1254T>G (p.Pro418=)
n.221+1165A>C
7g.117559568T=CA1737384531CFTR,CFTR-AS1c.1497T= (p.Pro499=)
c.*1211T= (n.*1211T=)
c.1314T= (p.Pro438=)
c.*55T= (n.*55T=)
c.*1321T= (n.*1321T=)
c.1071T= (p.Pro357=)
c.1407T= (p.Pro469=)
c.1587T= (p.Pro529=)
c.1254T= (p.Pro418=)
n.221+1165A=
7g.117559569G>ACA368984616CFTR,CFTR-AS1c.1498G>A (p.Gly500Ser)
c.*1212G>A (n.*1212G>A)
c.1315G>A (p.Gly439Ser)
c.*56G>A (n.*56G>A)
c.*1322G>A (n.*1322G>A)
c.1072G>A (p.Gly358Ser)
c.1408G>A (p.Gly470Ser)
c.1588G>A (p.Gly530Ser)
c.1255G>A (p.Gly419Ser)
n.221+1164C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559569G>CCA368984619CFTR,CFTR-AS1c.1498G>C (p.Gly500Arg)
c.*1212G>C (n.*1212G>C)
c.1315G>C (p.Gly439Arg)
c.*56G>C (n.*56G>C)
c.*1322G>C (n.*1322G>C)
c.1072G>C (p.Gly358Arg)
c.1408G>C (p.Gly470Arg)
c.1588G>C (p.Gly530Arg)
c.1255G>C (p.Gly419Arg)
n.221+1164C>G
7g.117559569G=CA1737384535CFTR,CFTR-AS1c.1498G= (p.Gly500=)
c.*1212G= (n.*1212G=)
c.1315G= (p.Gly439=)
c.*56G= (n.*56G=)
c.*1322G= (n.*1322G=)
c.1072G= (p.Gly358=)
c.1408G= (p.Gly470=)
c.1588G= (p.Gly530=)
c.1255G= (p.Gly419=)
n.221+1164C=
7g.117559569G>TCA368984625CFTR,CFTR-AS1c.1498G>T (p.Gly500Cys)
c.*1212G>T (n.*1212G>T)
c.1315G>T (p.Gly439Cys)
c.*56G>T (n.*56G>T)
c.*1322G>T (n.*1322G>T)
c.1072G>T (p.Gly358Cys)
c.1408G>T (p.Gly470Cys)
c.1588G>T (p.Gly530Cys)
c.1255G>T (p.Gly419Cys)
n.221+1164C>A
7g.117559570G>ACA4451011CFTR,CFTR-AS1c.1499G>A (p.Gly500Asp)
c.*1213G>A (n.*1213G>A)
c.1316G>A (p.Gly439Asp)
c.*57G>A (n.*57G>A)
c.*1323G>A (n.*1323G>A)
c.1073G>A (p.Gly358Asp)
c.1409G>A (p.Gly470Asp)
c.1589G>A (p.Gly530Asp)
c.1256G>A (p.Gly419Asp)
n.221+1163C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559570G>CCA368984628CFTR,CFTR-AS1c.1499G>C (p.Gly500Ala)
c.*1213G>C (n.*1213G>C)
c.1316G>C (p.Gly439Ala)
c.*57G>C (n.*57G>C)
c.*1323G>C (n.*1323G>C)
c.1073G>C (p.Gly358Ala)
c.1409G>C (p.Gly470Ala)
c.1589G>C (p.Gly530Ala)
c.1256G>C (p.Gly419Ala)
n.221+1163C>G
7g.117559570G=CA1737384542CFTR,CFTR-AS1c.1499G= (p.Gly500=)
c.*1213G= (n.*1213G=)
c.1316G= (p.Gly439=)
c.*57G= (n.*57G=)
c.*1323G= (n.*1323G=)
c.1073G= (p.Gly358=)
c.1409G= (p.Gly470=)
c.1589G= (p.Gly530=)
c.1256G= (p.Gly419=)
n.221+1163C=
7g.117559570G>TCA368984629CFTR,CFTR-AS1c.1499G>T (p.Gly500Val)
c.*1213G>T (n.*1213G>T)
c.1316G>T (p.Gly439Val)
c.*57G>T (n.*57G>T)
c.*1323G>T (n.*1323G>T)
c.1073G>T (p.Gly358Val)
c.1409G>T (p.Gly470Val)
c.1589G>T (p.Gly530Val)
c.1256G>T (p.Gly419Val)
n.221+1163C>A
7g.117559571C>ACA4451012CFTR,CFTR-AS1c.1500C>A (p.Gly500=)
c.*1214C>A (n.*1214C>A)
c.1317C>A (p.Gly439=)
c.*58C>A (n.*58C>A)
c.*1324C>A (n.*1324C>A)
c.1074C>A (p.Gly358=)
c.1410C>A (p.Gly470=)
c.1590C>A (p.Gly530=)
c.1257C>A (p.Gly419=)
n.221+1162G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117559571C=CA1737384550CFTR,CFTR-AS1c.1500C= (p.Gly500=)
c.*1214C= (n.*1214C=)
c.1317C= (p.Gly439=)
c.*58C= (n.*58C=)
c.*1324C= (n.*1324C=)
c.1074C= (p.Gly358=)
c.1410C= (p.Gly470=)
c.1590C= (p.Gly530=)
c.1257C= (p.Gly419=)
n.221+1162G=
7g.117559571C>GCA457228834CFTR,CFTR-AS1c.1500C>G (p.Gly500=)
c.*1214C>G (n.*1214C>G)
c.1317C>G (p.Gly439=)
c.*58C>G (n.*58C>G)
c.*1324C>G (n.*1324C>G)
c.1074C>G (p.Gly358=)
c.1410C>G (p.Gly470=)
c.1590C>G (p.Gly530=)
c.1257C>G (p.Gly419=)
n.221+1162G>C
 ClinVar
7g.117559571C>TCA457228835CFTR,CFTR-AS1c.1500C>T (p.Gly500=)
c.*1214C>T (n.*1214C>T)
c.1317C>T (p.Gly439=)
c.*58C>T (n.*58C>T)
c.*1324C>T (n.*1324C>T)
c.1074C>T (p.Gly358=)
c.1410C>T (p.Gly470=)
c.1590C>T (p.Gly530=)
c.1257C>T (p.Gly419=)
n.221+1162G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559572A=CA1737384554CFTR,CFTR-AS1c.1501A= (p.Thr501=)
c.*1215A= (n.*1215A=)
c.1318A= (p.Thr440=)
c.*59A= (n.*59A=)
c.*1325A= (n.*1325A=)
c.1075A= (p.Thr359=)
c.1411A= (p.Thr471=)
c.1591A= (p.Thr531=)
c.1258A= (p.Thr420=)
n.221+1161T=
7g.117559572A>CCA368984632CFTR,CFTR-AS1c.1501A>C (p.Thr501Pro)
c.*1215A>C (n.*1215A>C)
c.1318A>C (p.Thr440Pro)
c.*59A>C (n.*59A>C)
c.*1325A>C (n.*1325A>C)
c.1075A>C (p.Thr359Pro)
c.1411A>C (p.Thr471Pro)
c.1591A>C (p.Thr531Pro)
c.1258A>C (p.Thr420Pro)
n.221+1161T>G
7g.117559572A>GCA326510CFTR,CFTR-AS1c.1501A>G (p.Thr501Ala)
c.*1215A>G (n.*1215A>G)
c.1318A>G (p.Thr440Ala)
c.*59A>G (n.*59A>G)
c.*1325A>G (n.*1325A>G)
c.1075A>G (p.Thr359Ala)
c.1411A>G (p.Thr471Ala)
c.1591A>G (p.Thr531Ala)
c.1258A>G (p.Thr420Ala)
n.221+1161T>C
 ClinVar dbSNP
7g.117559572A>TCA368984631CFTR,CFTR-AS1c.1501A>T (p.Thr501Ser)
c.*1215A>T (n.*1215A>T)
c.1318A>T (p.Thr440Ser)
c.*59A>T (n.*59A>T)
c.*1325A>T (n.*1325A>T)
c.1075A>T (p.Thr359Ser)
c.1411A>T (p.Thr471Ser)
c.1591A>T (p.Thr531Ser)
c.1258A>T (p.Thr420Ser)
n.221+1161T>A
7g.117559573C>ACA368984635CFTR,CFTR-AS1c.1502C>A (p.Thr501Asn)
c.*1216C>A (n.*1216C>A)
c.1319C>A (p.Thr440Asn)
c.*60C>A (n.*60C>A)
c.*1326C>A (n.*1326C>A)
c.1076C>A (p.Thr359Asn)
c.1412C>A (p.Thr471Asn)
c.1592C>A (p.Thr531Asn)
c.1259C>A (p.Thr420Asn)
n.221+1160G>T
7g.117559573C=CA1737384559CFTR,CFTR-AS1c.1502C= (p.Thr501=)
c.*1216C= (n.*1216C=)
c.1319C= (p.Thr440=)
c.*60C= (n.*60C=)
c.*1326C= (n.*1326C=)
c.1076C= (p.Thr359=)
c.1412C= (p.Thr471=)
c.1592C= (p.Thr531=)
c.1259C= (p.Thr420=)
n.221+1160G=
7g.117559573C>GCA368984633CFTR,CFTR-AS1c.1502C>G (p.Thr501Ser)
c.*1216C>G (n.*1216C>G)
c.1319C>G (p.Thr440Ser)
c.*60C>G (n.*60C>G)
c.*1326C>G (n.*1326C>G)
c.1076C>G (p.Thr359Ser)
c.1412C>G (p.Thr471Ser)
c.1592C>G (p.Thr531Ser)
c.1259C>G (p.Thr420Ser)
n.221+1160G>C
 dbSNP gnomAD v3 gnomAD v4
7g.117559573C>TCA368984637CFTR,CFTR-AS1c.1502C>T (p.Thr501Ile)
c.*1216C>T (n.*1216C>T)
c.1319C>T (p.Thr440Ile)
c.*60C>T (n.*60C>T)
c.*1326C>T (n.*1326C>T)
c.1076C>T (p.Thr359Ile)
c.1412C>T (p.Thr471Ile)
c.1592C>T (p.Thr531Ile)
c.1259C>T (p.Thr420Ile)
n.221+1160G>A
 ClinVar dbSNP
7g.117559574C>ACA457228840CFTR,CFTR-AS1c.1503C>A (p.Thr501=)
c.*1217C>A (n.*1217C>A)
c.1320C>A (p.Thr440=)
c.*61C>A (n.*61C>A)
c.*1327C>A (n.*1327C>A)
c.1077C>A (p.Thr359=)
c.1413C>A (p.Thr471=)
c.1593C>A (p.Thr531=)
c.1260C>A (p.Thr420=)
n.221+1159G>T
7g.117559574C>GCA457228842CFTR,CFTR-AS1c.1503C>G (p.Thr501=)
c.*1217C>G (n.*1217C>G)
c.1320C>G (p.Thr440=)
c.*61C>G (n.*61C>G)
c.*1327C>G (n.*1327C>G)
c.1077C>G (p.Thr359=)
c.1413C>G (p.Thr471=)
c.1593C>G (p.Thr531=)
c.1260C>G (p.Thr420=)
n.221+1159G>C
7g.117559574C>TCA457228841CFTR,CFTR-AS1c.1503C>T (p.Thr501=)
c.*1217C>T (n.*1217C>T)
c.1320C>T (p.Thr440=)
c.*61C>T (n.*61C>T)
c.*1327C>T (n.*1327C>T)
c.1077C>T (p.Thr359=)
c.1413C>T (p.Thr471=)
c.1593C>T (p.Thr531=)
c.1260C>T (p.Thr420=)
n.221+1159G>A
 ClinVar
7g.117559575A=CA1737384561CFTR,CFTR-AS1c.1504A= (p.Ile502=)
c.*1218A= (n.*1218A=)
c.1321A= (p.Ile441=)
c.*62A= (n.*62A=)
c.*1328A= (n.*1328A=)
c.1078A= (p.Ile360=)
c.1414A= (p.Ile472=)
c.1594A= (p.Ile532=)
c.1261A= (p.Ile421=)
n.221+1158T=
7g.117559575A>CCA368984639CFTR,CFTR-AS1c.1504A>C (p.Ile502Leu)
c.*1218A>C (n.*1218A>C)
c.1321A>C (p.Ile441Leu)
c.*62A>C (n.*62A>C)
c.*1328A>C (n.*1328A>C)
c.1078A>C (p.Ile360Leu)
c.1414A>C (p.Ile472Leu)
c.1594A>C (p.Ile532Leu)
c.1261A>C (p.Ile421Leu)
n.221+1158T>G
7g.117559575A>GCA4451013CFTR,CFTR-AS1c.1504A>G (p.Ile502Val)
c.*1218A>G (n.*1218A>G)
c.1321A>G (p.Ile441Val)
c.*62A>G (n.*62A>G)
c.*1328A>G (n.*1328A>G)
c.1078A>G (p.Ile360Val)
c.1414A>G (p.Ile472Val)
c.1594A>G (p.Ile532Val)
c.1261A>G (p.Ile421Val)
n.221+1158T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559575A>TCA368984640CFTR,CFTR-AS1c.1504A>T (p.Ile502Phe)
c.*1218A>T (n.*1218A>T)
c.1321A>T (p.Ile441Phe)
c.*62A>T (n.*62A>T)
c.*1328A>T (n.*1328A>T)
c.1078A>T (p.Ile360Phe)
c.1414A>T (p.Ile472Phe)
c.1594A>T (p.Ile532Phe)
c.1261A>T (p.Ile421Phe)
n.221+1158T>A
7g.117559576T>ACA326512CFTR,CFTR-AS1c.1505T>A (p.Ile502Asn)
c.*1219T>A (n.*1219T>A)
c.1322T>A (p.Ile441Asn)
c.*63T>A (n.*63T>A)
c.*1329T>A (n.*1329T>A)
c.1079T>A (p.Ile360Asn)
c.1415T>A (p.Ile472Asn)
c.1595T>A (p.Ile532Asn)
c.1262T>A (p.Ile421Asn)
n.221+1157A>T
 ClinVar dbSNP
7g.117559576T>CCA326514CFTR,CFTR-AS1c.1505T>C (p.Ile502Thr)
c.*1219T>C (n.*1219T>C)
c.1322T>C (p.Ile441Thr)
c.*63T>C (n.*63T>C)
c.*1329T>C (n.*1329T>C)
c.1079T>C (p.Ile360Thr)
c.1415T>C (p.Ile472Thr)
c.1595T>C (p.Ile532Thr)
c.1262T>C (p.Ile421Thr)
n.221+1157A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559576T>GCA368984642CFTR,CFTR-AS1c.1505T>G (p.Ile502Ser)
c.*1219T>G (n.*1219T>G)
c.1322T>G (p.Ile441Ser)
c.*63T>G (n.*63T>G)
c.*1329T>G (n.*1329T>G)
c.1079T>G (p.Ile360Ser)
c.1415T>G (p.Ile472Ser)
c.1595T>G (p.Ile532Ser)
c.1262T>G (p.Ile421Ser)
n.221+1157A>C
 ClinVar dbSNP
7g.117559576T=CA1737384567CFTR,CFTR-AS1c.1505T= (p.Ile502=)
c.*1219T= (n.*1219T=)
c.1322T= (p.Ile441=)
c.*63T= (n.*63T=)
c.*1329T= (n.*1329T=)
c.1079T= (p.Ile360=)
c.1415T= (p.Ile472=)
c.1595T= (p.Ile532=)
c.1262T= (p.Ile421=)
n.221+1157A=
7g.117559577T>ACA457228846CFTR,CFTR-AS1c.1506T>A (p.Ile502=)
c.*1220T>A (n.*1220T>A)
c.1323T>A (p.Ile441=)
c.*64T>A (n.*64T>A)
c.*1330T>A (n.*1330T>A)
c.1080T>A (p.Ile360=)
c.1416T>A (p.Ile472=)
c.1596T>A (p.Ile532=)
c.1263T>A (p.Ile421=)
n.221+1156A>T
7g.117559577T>CCA457228847CFTR,CFTR-AS1c.1506T>C (p.Ile502=)
c.*1220T>C (n.*1220T>C)
c.1323T>C (p.Ile441=)
c.*64T>C (n.*64T>C)
c.*1330T>C (n.*1330T>C)
c.1080T>C (p.Ile360=)
c.1416T>C (p.Ile472=)
c.1596T>C (p.Ile532=)
c.1263T>C (p.Ile421=)
n.221+1156A>G
7g.117559577T>GCA368984649CFTR,CFTR-AS1c.1506T>G (p.Ile502Met)
c.*1220T>G (n.*1220T>G)
c.1323T>G (p.Ile441Met)
c.*64T>G (n.*64T>G)
c.*1330T>G (n.*1330T>G)
c.1080T>G (p.Ile360Met)
c.1416T>G (p.Ile472Met)
c.1596T>G (p.Ile532Met)
c.1263T>G (p.Ile421Met)
n.221+1156A>C
 gnomAD v4
7g.117559578A>CCA368984652CFTR,CFTR-AS1c.1507A>C (p.Lys503Gln)
c.*1221A>C (n.*1221A>C)
c.1324A>C (p.Lys442Gln)
c.*65A>C (n.*65A>C)
c.*1331A>C (n.*1331A>C)
c.1081A>C (p.Lys361Gln)
c.1417A>C (p.Lys473Gln)
c.1597A>C (p.Lys533Gln)
c.1264A>C (p.Lys422Gln)
n.221+1155T>G
7g.117559578A>GCA368984655CFTR,CFTR-AS1c.1507A>G (p.Lys503Glu)
c.*1221A>G (n.*1221A>G)
c.1324A>G (p.Lys442Glu)
c.*65A>G (n.*65A>G)
c.*1331A>G (n.*1331A>G)
c.1081A>G (p.Lys361Glu)
c.1417A>G (p.Lys473Glu)
c.1597A>G (p.Lys533Glu)
c.1264A>G (p.Lys422Glu)
n.221+1155T>C
 ClinVar gnomAD v4
7g.117559578A>TCA368984657CFTR,CFTR-AS1c.1507A>T (p.Lys503Ter)
c.*1221A>T (n.*1221A>T)
c.1324A>T (p.Lys442Ter)
c.*65A>T (n.*65A>T)
c.*1331A>T (n.*1331A>T)
c.1081A>T (p.Lys361Ter)
c.1417A>T (p.Lys473Ter)
c.1597A>T (p.Lys533Ter)
c.1264A>T (p.Lys422Ter)
n.221+1155T>A
7g.117559579A>CCA368984659CFTR,CFTR-AS1c.1508A>C (p.Lys503Thr)
c.*1222A>C (n.*1222A>C)
c.1325A>C (p.Lys442Thr)
c.*66A>C (n.*66A>C)
c.*1332A>C (n.*1332A>C)
c.1082A>C (p.Lys361Thr)
c.1418A>C (p.Lys473Thr)
c.1598A>C (p.Lys533Thr)
c.1265A>C (p.Lys422Thr)
n.221+1154T>G
7g.117559579A>GCA368984661CFTR,CFTR-AS1c.1508A>G (p.Lys503Arg)
c.*1222A>G (n.*1222A>G)
c.1325A>G (p.Lys442Arg)
c.*66A>G (n.*66A>G)
c.*1332A>G (n.*1332A>G)
c.1082A>G (p.Lys361Arg)
c.1418A>G (p.Lys473Arg)
c.1598A>G (p.Lys533Arg)
c.1265A>G (p.Lys422Arg)
n.221+1154T>C
7g.117559579A>TCA368984663CFTR,CFTR-AS1c.1508A>T (p.Lys503Ile)
c.*1222A>T (n.*1222A>T)
c.1325A>T (p.Lys442Ile)
c.*66A>T (n.*66A>T)
c.*1332A>T (n.*1332A>T)
c.1082A>T (p.Lys361Ile)
c.1418A>T (p.Lys473Ile)
c.1598A>T (p.Lys533Ile)
c.1265A>T (p.Lys422Ile)
n.221+1154T>A
7g.117559580A>CCA368984664CFTR,CFTR-AS1c.1509A>C (p.Lys503Asn)
c.*1223A>C (n.*1223A>C)
c.1326A>C (p.Lys442Asn)
c.*67A>C (n.*67A>C)
c.*1333A>C (n.*1333A>C)
c.1083A>C (p.Lys361Asn)
c.1419A>C (p.Lys473Asn)
c.1599A>C (p.Lys533Asn)
c.1266A>C (p.Lys422Asn)
n.221+1153T>G
7g.117559580A>GCA457228851CFTR,CFTR-AS1c.1509A>G (p.Lys503=)
c.*1223A>G (n.*1223A>G)
c.1326A>G (p.Lys442=)
c.*67A>G (n.*67A>G)
c.*1333A>G (n.*1333A>G)
c.1083A>G (p.Lys361=)
c.1419A>G (p.Lys473=)
c.1599A>G (p.Lys533=)
c.1266A>G (p.Lys422=)
n.221+1153T>C
 ClinVar
7g.117559580A>TCA368984666CFTR,CFTR-AS1c.1509A>T (p.Lys503Asn)
c.*1223A>T (n.*1223A>T)
c.1326A>T (p.Lys442Asn)
c.*67A>T (n.*67A>T)
c.*1333A>T (n.*1333A>T)
c.1083A>T (p.Lys361Asn)
c.1419A>T (p.Lys473Asn)
c.1599A>T (p.Lys533Asn)
c.1266A>T (p.Lys422Asn)
n.221+1153T>A
7g.117559580_117559581delinsTCA2695208323CFTR,CFTR-AS1c.1509_1510delinsT (p.Lys503AsnfsTer24)
c.*1223_*1224delinsT (n.*1223_*1224delinsT)
c.1326_1327delinsT (p.Lys442AsnfsTer24)
c.*67_*68delinsT (n.*67_*68delinsT)
c.*1333_*1334delinsT (n.*1333_*1334delinsT)
c.1083_1084delinsT (p.Lys361AsnfsTer24)
c.1419_1420delinsT (p.Lys473AsnfsTer24)
c.1599_1600delinsT (p.Lys533AsnfsTer24)
c.1266_1267delinsT (p.Lys422AsnfsTer24)
n.221+1152_221+1153delinsA
7g.117559581G>ACA368984667CFTR,CFTR-AS1c.1510G>A (p.Glu504Lys)
c.*1224G>A (n.*1224G>A)
c.1327G>A (p.Glu443Lys)
c.*68G>A (n.*68G>A)
c.*1334G>A (n.*1334G>A)
c.1084G>A (p.Glu362Lys)
c.1420G>A (p.Glu474Lys)
c.1600G>A (p.Glu534Lys)
c.1267G>A (p.Glu423Lys)
n.221+1152C>T
 COSMIC
7g.117559581G>CCA326516CFTR,CFTR-AS1c.1510G>C (p.Glu504Gln)
c.*1224G>C (n.*1224G>C)
c.1327G>C (p.Glu443Gln)
c.*68G>C (n.*68G>C)
c.*1334G>C (n.*1334G>C)
c.1084G>C (p.Glu362Gln)
c.1420G>C (p.Glu474Gln)
c.1600G>C (p.Glu534Gln)
c.1267G>C (p.Glu423Gln)
n.221+1152C>G
 ClinVar dbSNP
7g.117559581G=CA1737384583CFTR,CFTR-AS1c.1510G= (p.Glu504=)
c.*1224G= (n.*1224G=)
c.1327G= (p.Glu443=)
c.*68G= (n.*68G=)
c.*1334G= (n.*1334G=)
c.1084G= (p.Glu362=)
c.1420G= (p.Glu474=)
c.1600G= (p.Glu534=)
c.1267G= (p.Glu423=)
n.221+1152C=
7g.117559581G>TCA326517CFTR,CFTR-AS1c.1510G>T (p.Glu504Ter)
c.*1224G>T (n.*1224G>T)
c.1327G>T (p.Glu443Ter)
c.*68G>T (n.*68G>T)
c.*1334G>T (n.*1334G>T)
c.1084G>T (p.Glu362Ter)
c.1420G>T (p.Glu474Ter)
c.1600G>T (p.Glu534Ter)
c.1267G>T (p.Glu423Ter)
n.221+1152C>A
 ClinVar dbSNP
7g.117559582A>CCA368984668CFTR,CFTR-AS1c.1511A>C (p.Glu504Ala)
c.*1225A>C (n.*1225A>C)
c.1328A>C (p.Glu443Ala)
c.*69A>C (n.*69A>C)
c.*1335A>C (n.*1335A>C)
c.1085A>C (p.Glu362Ala)
c.1421A>C (p.Glu474Ala)
c.1601A>C (p.Glu534Ala)
c.1268A>C (p.Glu423Ala)
n.221+1151T>G
7g.117559582A>GCA368984669CFTR,CFTR-AS1c.1511A>G (p.Glu504Gly)
c.*1225A>G (n.*1225A>G)
c.1328A>G (p.Glu443Gly)
c.*69A>G (n.*69A>G)
c.*1335A>G (n.*1335A>G)
c.1085A>G (p.Glu362Gly)
c.1421A>G (p.Glu474Gly)
c.1601A>G (p.Glu534Gly)
c.1268A>G (p.Glu423Gly)
n.221+1151T>C
7g.117559582A>TCA368984672CFTR,CFTR-AS1c.1511A>T (p.Glu504Val)
c.*1225A>T (n.*1225A>T)
c.1328A>T (p.Glu443Val)
c.*69A>T (n.*69A>T)
c.*1335A>T (n.*1335A>T)
c.1085A>T (p.Glu362Val)
c.1421A>T (p.Glu474Val)
c.1601A>T (p.Glu534Val)
c.1268A>T (p.Glu423Val)
n.221+1151T>A
7g.117559585delCA2695208324CFTR,CFTR-AS1c.1514del (p.Asn505IlefsTer22)
c.*1228del (n.*1228del)
c.1331del (p.Asn444IlefsTer22)
c.*72del (n.*72del)
c.*1338del (n.*1338del)
c.1088del (p.Asn363IlefsTer22)
c.1424del (p.Asn475IlefsTer22)
c.1604del (p.Asn535IlefsTer22)
c.1271del (p.Asn424IlefsTer22)
n.221+1151del
7g.117559583A>CCA368984673CFTR,CFTR-AS1c.1512A>C (p.Glu504Asp)
c.*1226A>C (n.*1226A>C)
c.1329A>C (p.Glu443Asp)
c.*70A>C (n.*70A>C)
c.*1336A>C (n.*1336A>C)
c.1086A>C (p.Glu362Asp)
c.1422A>C (p.Glu474Asp)
c.1602A>C (p.Glu534Asp)
c.1269A>C (p.Glu423Asp)
n.221+1150T>G
7g.117559583A>GCA457228855CFTR,CFTR-AS1c.1512A>G (p.Glu504=)
c.*1226A>G (n.*1226A>G)
c.1329A>G (p.Glu443=)
c.*70A>G (n.*70A>G)
c.*1336A>G (n.*1336A>G)
c.1086A>G (p.Glu362=)
c.1422A>G (p.Glu474=)
c.1602A>G (p.Glu534=)
c.1269A>G (p.Glu423=)
n.221+1150T>C
7g.117559583A>TCA368984675CFTR,CFTR-AS1c.1512A>T (p.Glu504Asp)
c.*1226A>T (n.*1226A>T)
c.1329A>T (p.Glu443Asp)
c.*70A>T (n.*70A>T)
c.*1336A>T (n.*1336A>T)
c.1086A>T (p.Glu362Asp)
c.1422A>T (p.Glu474Asp)
c.1602A>T (p.Glu534Asp)
c.1269A>T (p.Glu423Asp)
n.221+1150T>A
7g.117559583_117559594delCA2580611908CFTR,CFTR-AS1c.1512_1523del (p.Glu504_Phe508delinsAsp)
c.*1226_*1237del (n.*1226_*1237del)
c.1329_1340del (p.Glu443_Phe447delinsAsp)
c.*70_*81del (n.*70_*81del)
c.*1336_*1347del (n.*1336_*1347del)
c.1086_1097del (p.Glu362_Phe366delinsAsp)
c.1422_1433del (p.Glu474_Phe478delinsAsp)
c.1602_1613del (p.Glu534_Phe538delinsAsp)
c.1269_1280del (p.Glu423_Phe427delinsAsp)
n.221+1139_221+1150del
7g.117559584A>CCA368984677CFTR,CFTR-AS1c.1513A>C (p.Asn505His)
c.*1227A>C (n.*1227A>C)
c.1330A>C (p.Asn444His)
c.*71A>C (n.*71A>C)
c.*1337A>C (n.*1337A>C)
c.1087A>C (p.Asn363His)
c.1423A>C (p.Asn475His)
c.1603A>C (p.Asn535His)
c.1270A>C (p.Asn424His)
n.221+1149T>G
7g.117559584A>GCA368984678CFTR,CFTR-AS1c.1513A>G (p.Asn505Asp)
c.*1227A>G (n.*1227A>G)
c.1330A>G (p.Asn444Asp)
c.*71A>G (n.*71A>G)
c.*1337A>G (n.*1337A>G)
c.1087A>G (p.Asn363Asp)
c.1423A>G (p.Asn475Asp)
c.1603A>G (p.Asn535Asp)
c.1270A>G (p.Asn424Asp)
n.221+1149T>C
7g.117559584A>TCA368984680CFTR,CFTR-AS1c.1513A>T (p.Asn505Tyr)
c.*1227A>T (n.*1227A>T)
c.1330A>T (p.Asn444Tyr)
c.*71A>T (n.*71A>T)
c.*1337A>T (n.*1337A>T)
c.1087A>T (p.Asn363Tyr)
c.1423A>T (p.Asn475Tyr)
c.1603A>T (p.Asn535Tyr)
c.1270A>T (p.Asn424Tyr)
n.221+1149T>A
7g.117559585A>CCA368984687CFTR,CFTR-AS1c.1514A>C (p.Asn505Thr)
c.*1228A>C (n.*1228A>C)
c.1331A>C (p.Asn444Thr)
c.*72A>C (n.*72A>C)
c.*1338A>C (n.*1338A>C)
c.1088A>C (p.Asn363Thr)
c.1424A>C (p.Asn475Thr)
c.1604A>C (p.Asn535Thr)
c.1271A>C (p.Asn424Thr)
n.221+1148T>G
7g.117559585A>GCA368984689CFTR,CFTR-AS1c.1514A>G (p.Asn505Ser)
c.*1228A>G (n.*1228A>G)
c.1331A>G (p.Asn444Ser)
c.*72A>G (n.*72A>G)
c.*1338A>G (n.*1338A>G)
c.1088A>G (p.Asn363Ser)
c.1424A>G (p.Asn475Ser)
c.1604A>G (p.Asn535Ser)
c.1271A>G (p.Asn424Ser)
n.221+1148T>C
7g.117559585A>TCA368984690CFTR,CFTR-AS1c.1514A>T (p.Asn505Ile)
c.*1228A>T (n.*1228A>T)
c.1331A>T (p.Asn444Ile)
c.*72A>T (n.*72A>T)
c.*1338A>T (n.*1338A>T)
c.1088A>T (p.Asn363Ile)
c.1424A>T (p.Asn475Ile)
c.1604A>T (p.Asn535Ile)
c.1271A>T (p.Asn424Ile)
n.221+1148T>A
7g.117559587_117559591dupCA2695208325CFTR,CFTR-AS1c.1516_1520dup (p.Phe508SerfsTer21)
c.*1230_*1234dup (n.*1230_*1234dup)
c.1333_1337dup (p.Phe447SerfsTer21)
c.*74_*78dup (n.*74_*78dup)
c.*1340_*1344dup (n.*1340_*1344dup)
c.1090_1094dup (p.Phe366SerfsTer21)
c.1426_1430dup (p.Phe478SerfsTer21)
c.1606_1610dup (p.Phe538SerfsTer21)
c.1273_1277dup (p.Phe427SerfsTer21)
n.221+1144_221+1148dup
7g.117559586T>ACA368984695CFTR,CFTR-AS1c.1515T>A (p.Asn505Lys)
c.*1229T>A (n.*1229T>A)
c.1332T>A (p.Asn444Lys)
c.*73T>A (n.*73T>A)
c.*1339T>A (n.*1339T>A)
c.1089T>A (p.Asn363Lys)
c.1425T>A (p.Asn475Lys)
c.1605T>A (p.Asn535Lys)
c.1272T>A (p.Asn424Lys)
n.221+1147A>T
7g.117559586T>CCA457228858CFTR,CFTR-AS1c.1515T>C (p.Asn505=)
c.*1229T>C (n.*1229T>C)
c.1332T>C (p.Asn444=)
c.*73T>C (n.*73T>C)
c.*1339T>C (n.*1339T>C)
c.1089T>C (p.Asn363=)
c.1425T>C (p.Asn475=)
c.1605T>C (p.Asn535=)
c.1272T>C (p.Asn424=)
n.221+1147A>G
 ClinVar
7g.117559586T>GCA368984696CFTR,CFTR-AS1c.1515T>G (p.Asn505Lys)
c.*1229T>G (n.*1229T>G)
c.1332T>G (p.Asn444Lys)
c.*73T>G (n.*73T>G)
c.*1339T>G (n.*1339T>G)
c.1089T>G (p.Asn363Lys)
c.1425T>G (p.Asn475Lys)
c.1605T>G (p.Asn535Lys)
c.1272T>G (p.Asn424Lys)
n.221+1147A>C
7g.117559586_117559589delinsTATCCA1737384592CFTR,CFTR-AS1c.1515_1518delinsTATC (p.Asn505=)
c.*1229_*1232delinsTATC (n.*1229_*1232delinsTATC)
c.1332_1335delinsTATC (p.Asn444=)
c.*73_*76delinsTATC (n.*73_*76delinsTATC)
c.*1339_*1342delinsTATC (n.*1339_*1342delinsTATC)
c.1089_1092delinsTATC (p.Asn363=)
c.1425_1428delinsTATC (p.Asn475=)
c.1605_1608delinsTATC (p.Asn535=)
c.1272_1275delinsTATC (p.Asn424=)
n.221+1144_221+1147delinsGATA
7g.117559587A=CA1737384615CFTR,CFTR-AS1c.1516A= (p.Ile506=)
c.*1230A= (n.*1230A=)
c.1333A= (p.Ile445=)
c.*74A= (n.*74A=)
c.*1340A= (n.*1340A=)
c.1090A= (p.Ile364=)
c.1426A= (p.Ile476=)
c.1606A= (p.Ile536=)
c.1273A= (p.Ile425=)
n.221+1146T=
7g.117559587A>CCA326519CFTR,CFTR-AS1c.1516A>C (p.Ile506Leu)
c.*1230A>C (n.*1230A>C)
c.1333A>C (p.Ile445Leu)
c.*74A>C (n.*74A>C)
c.*1340A>C (n.*1340A>C)
c.1090A>C (p.Ile364Leu)
c.1426A>C (p.Ile476Leu)
c.1606A>C (p.Ile536Leu)
c.1273A>C (p.Ile425Leu)
n.221+1146T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559587A>GCA254110CFTR,CFTR-AS1c.1516A>G (p.Ile506Val)
c.*1230A>G (n.*1230A>G)
c.1333A>G (p.Ile445Val)
c.*74A>G (n.*74A>G)
c.*1340A>G (n.*1340A>G)
c.1090A>G (p.Ile364Val)
c.1426A>G (p.Ile476Val)
c.1606A>G (p.Ile536Val)
c.1273A>G (p.Ile425Val)
n.221+1146T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559587A>TCA368984703CFTR,CFTR-AS1c.1516A>T (p.Ile506Phe)
c.*1230A>T (n.*1230A>T)
c.1333A>T (p.Ile445Phe)
c.*74A>T (n.*74A>T)
c.*1340A>T (n.*1340A>T)
c.1090A>T (p.Ile364Phe)
c.1426A>T (p.Ile476Phe)
c.1606A>T (p.Ile536Phe)
c.1273A>T (p.Ile425Phe)
n.221+1146T>A
7g.117559590_117559592delCA340628CFTR,CFTR-AS1c.1519_1521del (p.Ile507del)
c.*1233_*1235del (n.*1233_*1235del)
c.1336_1338del (p.Ile446del)
c.*77_*79del (n.*77_*79del)
c.*1343_*1345del (n.*1343_*1345del)
c.1093_1095del (p.Ile365del)
c.1429_1431del (p.Ile477del)
c.1609_1611del (p.Ile537del)
c.1276_1278del (p.Ile426del)
n.221+1144_221+1146del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559587_117559594delinsATCATCTTCA1737384602CFTR,CFTR-AS1c.1516_1523delinsATCATCTT (p.Ile506=)
c.*1230_*1237delinsATCATCTT (n.*1230_*1237delinsATCATCTT)
c.1333_1340delinsATCATCTT (p.Ile445=)
c.*74_*81delinsATCATCTT (n.*74_*81delinsATCATCTT)
c.*1340_*1347delinsATCATCTT (n.*1340_*1347delinsATCATCTT)
c.1090_1097delinsATCATCTT (p.Ile364=)
c.1426_1433delinsATCATCTT (p.Ile476=)
c.1606_1613delinsATCATCTT (p.Ile536=)
c.1273_1280delinsATCATCTT (p.Ile425=)
n.221+1139_221+1146delinsAAGATGAT
7g.117559588T>ACA368984704CFTR,CFTR-AS1c.1517T>A (p.Ile506Asn)
c.*1231T>A (n.*1231T>A)
c.1334T>A (p.Ile445Asn)
c.*75T>A (n.*75T>A)
c.*1341T>A (n.*1341T>A)
c.1091T>A (p.Ile364Asn)
c.1427T>A (p.Ile476Asn)
c.1607T>A (p.Ile536Asn)
c.1274T>A (p.Ile425Asn)
n.221+1145A>T
 ClinVar
7g.117559588T>CCA326521CFTR,CFTR-AS1c.1517T>C (p.Ile506Thr)
c.*1231T>C (n.*1231T>C)
c.1334T>C (p.Ile445Thr)
c.*75T>C (n.*75T>C)
c.*1341T>C (n.*1341T>C)
c.1091T>C (p.Ile364Thr)
c.1427T>C (p.Ile476Thr)
c.1607T>C (p.Ile536Thr)
c.1274T>C (p.Ile425Thr)
n.221+1145A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559588T>GCA326523CFTR,CFTR-AS1c.1517T>G (p.Ile506Ser)
c.*1231T>G (n.*1231T>G)
c.1334T>G (p.Ile445Ser)
c.*75T>G (n.*75T>G)
c.*1341T>G (n.*1341T>G)
c.1091T>G (p.Ile364Ser)
c.1427T>G (p.Ile476Ser)
c.1607T>G (p.Ile536Ser)
c.1274T>G (p.Ile425Ser)
n.221+1145A>C
 ClinVar dbSNP
7g.117559588T=CA1737384626CFTR,CFTR-AS1c.1517T= (p.Ile506=)
c.*1231T= (n.*1231T=)
c.1334T= (p.Ile445=)
c.*75T= (n.*75T=)
c.*1341T= (n.*1341T=)
c.1091T= (p.Ile364=)
c.1427T= (p.Ile476=)
c.1607T= (p.Ile536=)
c.1274T= (p.Ile425=)
n.221+1145A=
7g.117559588_117559592delinsTCATCCA1737384635CFTR,CFTR-AS1c.1517_1521delinsTCATC (p.Ile506=)
c.*1231_*1235delinsTCATC (n.*1231_*1235delinsTCATC)
c.1334_1338delinsTCATC (p.Ile445=)
c.*75_*79delinsTCATC (n.*75_*79delinsTCATC)
c.*1341_*1345delinsTCATC (n.*1341_*1345delinsTCATC)
c.1091_1095delinsTCATC (p.Ile364=)
c.1427_1431delinsTCATC (p.Ile476=)
c.1607_1611delinsTCATC (p.Ile536=)
c.1274_1278delinsTCATC (p.Ile425=)
n.221+1141_221+1145delinsGATGA
7g.117559588_117559595delinsTCATCTTTCA1737384633CFTR,CFTR-AS1c.1517_1524delinsTCATCTTT (p.Ile506=)
c.*1231_*1238delinsTCATCTTT (n.*1231_*1238delinsTCATCTTT)
c.1334_1341delinsTCATCTTT (p.Ile445=)
c.*75_*82delinsTCATCTTT (n.*75_*82delinsTCATCTTT)
c.*1341_*1348delinsTCATCTTT (n.*1341_*1348delinsTCATCTTT)
c.1091_1098delinsTCATCTTT (p.Ile364=)
c.1427_1434delinsTCATCTTT (p.Ile476=)
c.1607_1614delinsTCATCTTT (p.Ile536=)
c.1274_1281delinsTCATCTTT (p.Ile425=)
n.221+1138_221+1145delinsAAAGATGA
7g.117559589_117559595delCA918111823CFTR,CFTR-AS1c.1518_1524del (p.Ile506MetfsTer19)
c.*1232_*1238del (n.*1232_*1238del)
c.1335_1341del (p.Ile445MetfsTer19)
c.*76_*82del (n.*76_*82del)
c.*1342_*1348del (n.*1342_*1348del)
c.1092_1098del (p.Ile364MetfsTer19)
c.1428_1434del (p.Ile476MetfsTer19)
c.1608_1614del (p.Ile536MetfsTer19)
c.1275_1281del (p.Ile425MetfsTer19)
n.221+1139_221+1145del
 dbSNP
7g.117559589C>ACA4451014CFTR,CFTR-AS1c.1518C>A (p.Ile506=)
c.*1232C>A (n.*1232C>A)
c.1335C>A (p.Ile445=)
c.*76C>A (n.*76C>A)
c.*1342C>A (n.*1342C>A)
c.1092C>A (p.Ile364=)
c.1428C>A (p.Ile476=)
c.1608C>A (p.Ile536=)
c.1275C>A (p.Ile425=)
n.221+1144G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559589C=CA1737384649CFTR,CFTR-AS1c.1518C= (p.Ile506=)
c.*1232C= (n.*1232C=)
c.1335C= (p.Ile445=)
c.*76C= (n.*76C=)
c.*1342C= (n.*1342C=)
c.1092C= (p.Ile364=)
c.1428C= (p.Ile476=)
c.1608C= (p.Ile536=)
c.1275C= (p.Ile425=)
n.221+1144G=
7g.117559589C>GCA326525CFTR,CFTR-AS1c.1518C>G (p.Ile506Met)
c.*1232C>G (n.*1232C>G)
c.1335C>G (p.Ile445Met)
c.*76C>G (n.*76C>G)
c.*1342C>G (n.*1342C>G)
c.1092C>G (p.Ile364Met)
c.1428C>G (p.Ile476Met)
c.1608C>G (p.Ile536Met)
c.1275C>G (p.Ile425Met)
n.221+1144G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117559589C>TCA457228860CFTR,CFTR-AS1c.1518C>T (p.Ile506=)
c.*1232C>T (n.*1232C>T)
c.1335C>T (p.Ile445=)
c.*76C>T (n.*76C>T)
c.*1342C>T (n.*1342C>T)
c.1092C>T (p.Ile364=)
c.1428C>T (p.Ile476=)
c.1608C>T (p.Ile536=)
c.1275C>T (p.Ile425=)
n.221+1144G>A
 COSMIC
7g.117559589_117559592delCA918111825CFTR,CFTR-AS1c.1518_1521del (p.Ile507LeufsTer19)
c.*1232_*1235del (n.*1232_*1235del)
c.1335_1338del (p.Ile446LeufsTer19)
c.*76_*79del (n.*76_*79del)
c.*1342_*1345del (n.*1342_*1345del)
c.1092_1095del (p.Ile365LeufsTer19)
c.1428_1431del (p.Ile477LeufsTer19)
c.1608_1611del (p.Ile537LeufsTer19)
c.1275_1278del (p.Ile426LeufsTer19)
n.221+1141_221+1144del
 dbSNP
7g.117559589_117559595delinsACA164967764CFTR,CFTR-AS1c.1518_1524delinsA (p.Ile507_Phe508del)
c.*1232_*1238delinsA (n.*1232_*1238delinsA)
c.1335_1341delinsA (p.Ile446_Phe447del)
c.*76_*82delinsA (n.*76_*82delinsA)
c.*1342_*1348delinsA (n.*1342_*1348delinsA)
c.1092_1098delinsA (p.Ile365_Phe366del)
c.1428_1434delinsA (p.Ile477_Phe478del)
c.1608_1614delinsA (p.Ile537_Phe538del)
c.1275_1281delinsA (p.Ile426_Phe427del)
n.221+1138_221+1144delinsT
 dbSNP
7g.117559589_117559595delinsGCA164967765CFTR,CFTR-AS1c.1518_1524delinsG (p.Ile506_Phe508delinsMet)
c.*1232_*1238delinsG (n.*1232_*1238delinsG)
c.1335_1341delinsG (p.Ile445_Phe447delinsMet)
c.*76_*82delinsG (n.*76_*82delinsG)
c.*1342_*1348delinsG (n.*1342_*1348delinsG)
c.1092_1098delinsG (p.Ile364_Phe366delinsMet)
c.1428_1434delinsG (p.Ile476_Phe478delinsMet)
c.1608_1614delinsG (p.Ile536_Phe538delinsMet)
c.1275_1281delinsG (p.Ile425_Phe427delinsMet)
n.221+1138_221+1144delinsC
 dbSNP
7g.117559590A=CA1737384659CFTR,CFTR-AS1c.1519A= (p.Ile507=)
c.*1233A= (n.*1233A=)
c.1336A= (p.Ile446=)
c.*77A= (n.*77A=)
c.*1343A= (n.*1343A=)
c.1093A= (p.Ile365=)
c.1429A= (p.Ile477=)
c.1609A= (p.Ile537=)
c.1276A= (p.Ile426=)
n.221+1143T=
7g.117559590A>CCA368984707CFTR,CFTR-AS1c.1519A>C (p.Ile507Leu)
c.*1233A>C (n.*1233A>C)
c.1336A>C (p.Ile446Leu)
c.*77A>C (n.*77A>C)
c.*1343A>C (n.*1343A>C)
c.1093A>C (p.Ile365Leu)
c.1429A>C (p.Ile477Leu)
c.1609A>C (p.Ile537Leu)
c.1276A>C (p.Ile426Leu)
n.221+1143T>G
7g.117559590A>GCA274056CFTR,CFTR-AS1c.1519A>G (p.Ile507Val)
c.*1233A>G (n.*1233A>G)
c.1336A>G (p.Ile446Val)
c.*77A>G (n.*77A>G)
c.*1343A>G (n.*1343A>G)
c.1093A>G (p.Ile365Val)
c.1429A>G (p.Ile477Val)
c.1609A>G (p.Ile537Val)
c.1276A>G (p.Ile426Val)
n.221+1143T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559590A>TCA368984708CFTR,CFTR-AS1c.1519A>T (p.Ile507Phe)
c.*1233A>T (n.*1233A>T)
c.1336A>T (p.Ile446Phe)
c.*77A>T (n.*77A>T)
c.*1343A>T (n.*1343A>T)
c.1093A>T (p.Ile365Phe)
c.1429A>T (p.Ile477Phe)
c.1609A>T (p.Ile537Phe)
c.1276A>T (p.Ile426Phe)
n.221+1143T>A
 ClinVar dbSNP
7g.117559590_117559593delinsATCTCA1737384661CFTR,CFTR-AS1c.1519_1522delinsATCT (p.Ile507=)
c.*1233_*1236delinsATCT (n.*1233_*1236delinsATCT)
c.1336_1339delinsATCT (p.Ile446=)
c.*77_*80delinsATCT (n.*77_*80delinsATCT)
c.*1343_*1346delinsATCT (n.*1343_*1346delinsATCT)
c.1093_1096delinsATCT (p.Ile365=)
c.1429_1432delinsATCT (p.Ile477=)
c.1609_1612delinsATCT (p.Ile537=)
c.1276_1279delinsATCT (p.Ile426=)
n.221+1140_221+1143delinsAGAT
7g.117559591T>ACA368984709CFTR,CFTR-AS1c.1520T>A (p.Ile507Asn)
c.*1234T>A (n.*1234T>A)
c.1337T>A (p.Ile446Asn)
c.*78T>A (n.*78T>A)
c.*1344T>A (n.*1344T>A)
c.1094T>A (p.Ile365Asn)
c.1430T>A (p.Ile477Asn)
c.1610T>A (p.Ile537Asn)
c.1277T>A (p.Ile426Asn)
n.221+1142A>T
7g.117559591T>CCA368984710CFTR,CFTR-AS1c.1520T>C (p.Ile507Thr)
c.*1234T>C (n.*1234T>C)
c.1337T>C (p.Ile446Thr)
c.*78T>C (n.*78T>C)
c.*1344T>C (n.*1344T>C)
c.1094T>C (p.Ile365Thr)
c.1430T>C (p.Ile477Thr)
c.1610T>C (p.Ile537Thr)
c.1277T>C (p.Ile426Thr)
n.221+1142A>G
7g.117559591T>GCA368984712CFTR,CFTR-AS1c.1520T>G (p.Ile507Ser)
c.*1234T>G (n.*1234T>G)
c.1337T>G (p.Ile446Ser)
c.*78T>G (n.*78T>G)
c.*1344T>G (n.*1344T>G)
c.1094T>G (p.Ile365Ser)
c.1430T>G (p.Ile477Ser)
c.1610T>G (p.Ile537Ser)
c.1277T>G (p.Ile426Ser)
n.221+1142A>C
7g.117559592_117559593dupCA918111826CFTR,CFTR-AS1c.1521_1522dup (p.Phe508SerfsTer20)
c.*1235_*1236dup (n.*1235_*1236dup)
c.1338_1339dup (p.Phe447SerfsTer20)
c.*79_*80dup (n.*79_*80dup)
c.*1345_*1346dup (n.*1345_*1346dup)
c.1095_1096dup (p.Phe366SerfsTer20)
c.1431_1432dup (p.Phe478SerfsTer20)
c.1611_1612dup (p.Phe538SerfsTer20)
c.1278_1279dup (p.Phe427SerfsTer20)
n.221+1141_221+1142dup
 dbSNP
7g.117559592_117559594dupCA1737384675CFTR,CFTR-AS1c.1521_1523dup (p.Phe508_Gly509insPhe)
c.*1235_*1237dup (n.*1235_*1237dup)
c.1338_1340dup (p.Phe447_Gly448insPhe)
c.*79_*81dup (n.*79_*81dup)
c.*1345_*1347dup (n.*1345_*1347dup)
c.1095_1097dup (p.Phe366_Gly367insPhe)
c.1431_1433dup (p.Phe478_Gly479insPhe)
c.1611_1613dup (p.Phe538_Gly539insPhe)
c.1278_1280dup (p.Phe427_Gly428insPhe)
n.221+1140_221+1142dup
 dbSNP
7g.117559592_117559594delCA118639CFTR,CFTR-AS1c.1521_1523del (p.Phe508del)
c.*1235_*1237del (n.*1235_*1237del)
c.1338_1340del (p.Phe447del)
c.*79_*81del (n.*79_*81del)
c.*1345_*1347del (n.*1345_*1347del)
c.1095_1097del (p.Phe366del)
c.1431_1433del (p.Phe478del)
c.1611_1613del (p.Phe538del)
c.1278_1280del (p.Phe427del)
n.221+1140_221+1142del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.[117559592_117559594del;117610610T>C]CA913203342CFTRc.[1521_1523del;3080T>C] (p.[Phe508del;Ile1027Thr])
c.[*1235_*1237del;*2794T>C] (n.[*1235_*1237del;*2794T>C])
c.[1338_1340del;2897T>C] (p.[Phe447del;Ile966Thr])
c.[1521_1523del;*1380T>C] ([p.Phe508del;n.*1380T>C])
c.[*1345_*1347del;*2904T>C] (n.[*1345_*1347del;*2904T>C])
c.[1095_1097del;2654T>C] (p.[Phe366del;Ile885Thr])
c.[1338_1340del;1862T>C] (p.[Phe447del;Ile621Thr])
c.[1431_1433del;2990T>C] (p.[Phe478del;Ile997Thr])
c.[1611_1613del;3170T>C] (p.[Phe538del;Ile1057Thr])
c.[1278_1280del;2837T>C] (p.[Phe427del;Ile946Thr])
7g.117559591_117559592insACA2695208328CFTR,CFTR-AS1c.1520_1521insA (p.Phe508LeufsTer6)
c.*1234_*1235insA (n.*1234_*1235insA)
c.1337_1338insA (p.Phe447LeufsTer6)
c.*78_*79insA (n.*78_*79insA)
c.*1344_*1345insA (n.*1344_*1345insA)
c.1094_1095insA (p.Phe366LeufsTer6)
c.1430_1431insA (p.Phe478LeufsTer6)
c.1610_1611insA (p.Phe538LeufsTer6)
c.1277_1278insA (p.Phe427LeufsTer6)
n.221+1141_221+1142insT
7g.117559592C>ACA457228868CFTR,CFTR-AS1c.1521C>A (p.Ile507=)
c.*1235C>A (n.*1235C>A)
c.1338C>A (p.Ile446=)
c.*79C>A (n.*79C>A)
c.*1345C>A (n.*1345C>A)
c.1095C>A (p.Ile365=)
c.1431C>A (p.Ile477=)
c.1611C>A (p.Ile537=)
c.1278C>A (p.Ile426=)
n.221+1141G>T
7g.117559592C>GCA368984720CFTR,CFTR-AS1c.1521C>G (p.Ile507Met)
c.*1235C>G (n.*1235C>G)
c.1338C>G (p.Ile446Met)
c.*79C>G (n.*79C>G)
c.*1345C>G (n.*1345C>G)
c.1095C>G (p.Ile365Met)
c.1431C>G (p.Ile477Met)
c.1611C>G (p.Ile537Met)
c.1278C>G (p.Ile426Met)
n.221+1141G>C
7g.117559592C>TCA457228866CFTR,CFTR-AS1c.1521C>T (p.Ile507=)
c.*1235C>T (n.*1235C>T)
c.1338C>T (p.Ile446=)
c.*79C>T (n.*79C>T)
c.*1345C>T (n.*1345C>T)
c.1095C>T (p.Ile365=)
c.1431C>T (p.Ile477=)
c.1611C>T (p.Ile537=)
c.1278C>T (p.Ile426=)
n.221+1141G>A
7g.117559592_117559593delinsCTCA1737384680CFTR,CFTR-AS1c.1521_1522delinsCT (p.Ile507=)
c.*1235_*1236delinsCT (n.*1235_*1236delinsCT)
c.1338_1339delinsCT (p.Ile446=)
c.*79_*80delinsCT (n.*79_*80delinsCT)
c.*1345_*1346delinsCT (n.*1345_*1346delinsCT)
c.1095_1096delinsCT (p.Ile365=)
c.1431_1432delinsCT (p.Ile477=)
c.1611_1612delinsCT (p.Ile537=)
c.1278_1279delinsCT (p.Ile426=)
n.221+1140_221+1141delinsAG
7g.117559592_117559593delinsTCCA164967774CFTR,CFTR-AS1c.1521_1522delinsTC (p.Phe508Leu)
c.*1235_*1236delinsTC (n.*1235_*1236delinsTC)
c.1338_1339delinsTC (p.Phe447Leu)
c.*79_*80delinsTC (n.*79_*80delinsTC)
c.*1345_*1346delinsTC (n.*1345_*1346delinsTC)
c.1095_1096delinsTC (p.Phe366Leu)
c.1431_1432delinsTC (p.Phe478Leu)
c.1611_1612delinsTC (p.Phe538Leu)
c.1278_1279delinsTC (p.Phe427Leu)
n.221+1140_221+1141delinsGA
7g.117559592_117559595delinsCTTTCA1737384679CFTR,CFTR-AS1c.1521_1524delinsCTTT (p.Ile507=)
c.*1235_*1238delinsCTTT (n.*1235_*1238delinsCTTT)
c.1338_1341delinsCTTT (p.Ile446=)
c.*79_*82delinsCTTT (n.*79_*82delinsCTTT)
c.*1345_*1348delinsCTTT (n.*1345_*1348delinsCTTT)
c.1095_1098delinsCTTT (p.Ile365=)
c.1431_1434delinsCTTT (p.Ile477=)
c.1611_1614delinsCTTT (p.Ile537=)
c.1278_1281delinsCTTT (p.Ile426=)
n.221+1138_221+1141delinsAAAG
7g.117559594_117559605delCA2695208327CFTR,CFTR-AS1c.1523_1534del (p.Phe508_Ser511del)
c.*1237_*1248del (n.*1237_*1248del)
c.1340_1351del (p.Phe447_Ser450del)
c.*81_*92del (n.*81_*92del)
c.*1347_*1358del (n.*1347_*1358del)
c.1097_1108del (p.Phe366_Ser369del)
c.1433_1444del (p.Phe478_Ser481del)
c.1613_1624del (p.Phe538_Ser541del)
c.1280_1291del (p.Phe427_Ser430del)
n.221+1130_221+1141del
7g.117559593T>ACA368984722CFTR,CFTR-AS1c.1522T>A (p.Phe508Ile)
c.*1236T>A (n.*1236T>A)
c.1339T>A (p.Phe447Ile)
c.*80T>A (n.*80T>A)
c.*1346T>A (n.*1346T>A)
c.1096T>A (p.Phe366Ile)
c.1432T>A (p.Phe478Ile)
c.1612T>A (p.Phe538Ile)
c.1279T>A (p.Phe427Ile)
n.221+1140A>T
 dbSNP
7g.117559593T>CCA4451016CFTR,CFTR-AS1c.1522T>C (p.Phe508Leu)
c.*1236T>C (n.*1236T>C)
c.1339T>C (p.Phe447Leu)
c.*80T>C (n.*80T>C)
c.*1346T>C (n.*1346T>C)
c.1096T>C (p.Phe366Leu)
c.1432T>C (p.Phe478Leu)
c.1612T>C (p.Phe538Leu)
c.1279T>C (p.Phe427Leu)
n.221+1140A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559593T>GCA4451015CFTR,CFTR-AS1c.1522T>G (p.Phe508Val)
c.*1236T>G (n.*1236T>G)
c.1339T>G (p.Phe447Val)
c.*80T>G (n.*80T>G)
c.*1346T>G (n.*1346T>G)
c.1096T>G (p.Phe366Val)
c.1432T>G (p.Phe478Val)
c.1612T>G (p.Phe538Val)
c.1279T>G (p.Phe427Val)
n.221+1140A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559593T=CA1737384687CFTR,CFTR-AS1c.1522T= (p.Phe508=)
c.*1236T= (n.*1236T=)
c.1339T= (p.Phe447=)
c.*80T= (n.*80T=)
c.*1346T= (n.*1346T=)
c.1096T= (p.Phe366=)
c.1432T= (p.Phe478=)
c.1612T= (p.Phe538=)
c.1279T= (p.Phe427=)
n.221+1140A=
7g.117559593_117559595delCA164967779CFTR,CFTR-AS1c.1522_1524del (p.Phe508del)
c.*1236_*1238del (n.*1236_*1238del)
c.1339_1341del (p.Phe447del)
c.*80_*82del (n.*80_*82del)
c.*1346_*1348del (n.*1346_*1348del)
c.1096_1098del (p.Phe366del)
c.1432_1434del (p.Phe478del)
c.1612_1614del (p.Phe538del)
c.1279_1281del (p.Phe427del)
n.221+1138_221+1140del
 dbSNP
7g.117559595delCA918111829CFTR,CFTR-AS1c.1524del (p.Phe508LeufsTer19)
c.*1238del (n.*1238del)
c.1341del (p.Phe447LeufsTer19)
c.*82del (n.*82del)
c.*1348del (n.*1348del)
c.1098del (p.Phe366LeufsTer19)
c.1434del (p.Phe478LeufsTer19)
c.1614del (p.Phe538LeufsTer19)
c.1281del (p.Phe427LeufsTer19)
n.221+1140del
 dbSNP
7g.117559594T>ACA368984727CFTR,CFTR-AS1c.1523T>A (p.Phe508Tyr)
c.*1237T>A (n.*1237T>A)
c.1340T>A (p.Phe447Tyr)
c.*81T>A (n.*81T>A)
c.*1347T>A (n.*1347T>A)
c.1097T>A (p.Phe366Tyr)
c.1433T>A (p.Phe478Tyr)
c.1613T>A (p.Phe538Tyr)
c.1280T>A (p.Phe427Tyr)
n.221+1139A>T
 dbSNP gnomAD v4
7g.117559594T>CCA326527CFTR,CFTR-AS1c.1523T>C (p.Phe508Ser)
c.*1237T>C (n.*1237T>C)
c.1340T>C (p.Phe447Ser)
c.*81T>C (n.*81T>C)
c.*1347T>C (n.*1347T>C)
c.1097T>C (p.Phe366Ser)
c.1433T>C (p.Phe478Ser)
c.1613T>C (p.Phe538Ser)
c.1280T>C (p.Phe427Ser)
n.221+1139A>G
 dbSNP
7g.117559594T>GCA146695CFTR,CFTR-AS1c.1523T>G (p.Phe508Cys)
c.*1237T>G (n.*1237T>G)
c.1340T>G (p.Phe447Cys)
c.*81T>G (n.*81T>G)
c.*1347T>G (n.*1347T>G)
c.1097T>G (p.Phe366Cys)
c.1433T>G (p.Phe478Cys)
c.1613T>G (p.Phe538Cys)
c.1280T>G (p.Phe427Cys)
n.221+1139A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.[117559594T>G;117642472G>A]CA2573102335CFTRc.[1523T>G;3552G>A] (p.[Phe508Cys;Glu1184=])
c.[*1237T>G;*3466G>A] (n.[*1237T>G;*3466G>A])
c.[1340T>G;3569G>A] (p.[Phe447Cys;Ser1190Asn])
c.[1523T>G;3752G>A] (p.[Phe508Cys;Ser1251Asn])
c.[1523T>G;*405G>A] ([p.Phe508Cys;n.*405G>A])
c.[1523T>G;*413G>A] ([p.Phe508Cys;n.*413G>A])
c.[1523T>G;*2127G>A] ([p.Phe508Cys;n.*2127G>A])
c.[1523T>G;3746G>A] (p.[Phe508Cys;Ser1249Asn])
c.[*1347T>G;*3576G>A] (n.[*1347T>G;*3576G>A])
c.[1097T>G;3326G>A] (p.[Phe366Cys;Ser1109Asn])
c.[1433T>G;3662G>A] (p.[Phe478Cys;Ser1221Asn])
c.[1613T>G;3842G>A] (p.[Phe538Cys;Ser1281Asn])
c.[1280T>G;3509G>A] (p.[Phe427Cys;Ser1170Asn])
7g.117559594T=CA1737384691CFTR,CFTR-AS1c.1523T= (p.Phe508=)
c.*1237T= (n.*1237T=)
c.1340T= (p.Phe447=)
c.*81T= (n.*81T=)
c.*1347T= (n.*1347T=)
c.1097T= (p.Phe366=)
c.1433T= (p.Phe478=)
c.1613T= (p.Phe538=)
c.1280T= (p.Phe427=)
n.221+1139A=
7g.117559595T>ACA368984730CFTR,CFTR-AS1c.1524T>A (p.Phe508Leu)
c.*1238T>A (n.*1238T>A)
c.1341T>A (p.Phe447Leu)
c.*82T>A (n.*82T>A)
c.*1348T>A (n.*1348T>A)
c.1098T>A (p.Phe366Leu)
c.1434T>A (p.Phe478Leu)
c.1614T>A (p.Phe538Leu)
c.1281T>A (p.Phe427Leu)
n.221+1138A>T
7g.117559595T>CCA457228869CFTR,CFTR-AS1c.1524T>C (p.Phe508=)
c.*1238T>C (n.*1238T>C)
c.1341T>C (p.Phe447=)
c.*82T>C (n.*82T>C)
c.*1348T>C (n.*1348T>C)
c.1098T>C (p.Phe366=)
c.1434T>C (p.Phe478=)
c.1614T>C (p.Phe538=)
c.1281T>C (p.Phe427=)
n.221+1138A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117559595T>GCA368984737CFTR,CFTR-AS1c.1524T>G (p.Phe508Leu)
c.*1238T>G (n.*1238T>G)
c.1341T>G (p.Phe447Leu)
c.*82T>G (n.*82T>G)
c.*1348T>G (n.*1348T>G)
c.1098T>G (p.Phe366Leu)
c.1434T>G (p.Phe478Leu)
c.1614T>G (p.Phe538Leu)
c.1281T>G (p.Phe427Leu)
n.221+1138A>C
7g.117559595T=CA1737384703CFTR,CFTR-AS1c.1524T= (p.Phe508=)
c.*1238T= (n.*1238T=)
c.1341T= (p.Phe447=)
c.*82T= (n.*82T=)
c.*1348T= (n.*1348T=)
c.1098T= (p.Phe366=)
c.1434T= (p.Phe478=)
c.1614T= (p.Phe538=)
c.1281T= (p.Phe427=)
n.221+1138A=
7g.117559596G>ACA368984741CFTR,CFTR-AS1c.1525G>A (p.Gly509Ser)
c.*1239G>A (n.*1239G>A)
c.1342G>A (p.Gly448Ser)
c.*83G>A (n.*83G>A)
c.*1349G>A (n.*1349G>A)
c.1099G>A (p.Gly367Ser)
c.1435G>A (p.Gly479Ser)
c.1615G>A (p.Gly539Ser)
c.1282G>A (p.Gly428Ser)
n.221+1137C>T
7g.117559596G>CCA368984742CFTR,CFTR-AS1c.1525G>C (p.Gly509Arg)
c.*1239G>C (n.*1239G>C)
c.1342G>C (p.Gly448Arg)
c.*83G>C (n.*83G>C)
c.*1349G>C (n.*1349G>C)
c.1099G>C (p.Gly367Arg)
c.1435G>C (p.Gly479Arg)
c.1615G>C (p.Gly539Arg)
c.1282G>C (p.Gly428Arg)
n.221+1137C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117559596G=CA1737384709CFTR,CFTR-AS1c.1525G= (p.Gly509=)
c.*1239G= (n.*1239G=)
c.1342G= (p.Gly448=)
c.*83G= (n.*83G=)
c.*1349G= (n.*1349G=)
c.1099G= (p.Gly367=)
c.1435G= (p.Gly479=)
c.1615G= (p.Gly539=)
c.1282G= (p.Gly428=)
n.221+1137C=
7g.117559596G>TCA368984744CFTR,CFTR-AS1c.1525G>T (p.Gly509Cys)
c.*1239G>T (n.*1239G>T)
c.1342G>T (p.Gly448Cys)
c.*83G>T (n.*83G>T)
c.*1349G>T (n.*1349G>T)
c.1099G>T (p.Gly367Cys)
c.1435G>T (p.Gly479Cys)
c.1615G>T (p.Gly539Cys)
c.1282G>T (p.Gly428Cys)
n.221+1137C>A
7g.117559597G>ACA368984749CFTR,CFTR-AS1c.1526G>A (p.Gly509Asp)
c.*1240G>A (n.*1240G>A)
c.1343G>A (p.Gly448Asp)
c.*84G>A (n.*84G>A)
c.*1350G>A (n.*1350G>A)
c.1100G>A (p.Gly367Asp)
c.1436G>A (p.Gly479Asp)
c.1616G>A (p.Gly539Asp)
c.1283G>A (p.Gly428Asp)
n.221+1136C>T
7g.117559597G>CCA368984748CFTR,CFTR-AS1c.1526G>C (p.Gly509Ala)
c.*1240G>C (n.*1240G>C)
c.1343G>C (p.Gly448Ala)
c.*84G>C (n.*84G>C)
c.*1350G>C (n.*1350G>C)
c.1100G>C (p.Gly367Ala)
c.1436G>C (p.Gly479Ala)
c.1616G>C (p.Gly539Ala)
c.1283G>C (p.Gly428Ala)
n.221+1136C>G
7g.117559597G>TCA368984747CFTR,CFTR-AS1c.1526G>T (p.Gly509Val)
c.*1240G>T (n.*1240G>T)
c.1343G>T (p.Gly448Val)
c.*84G>T (n.*84G>T)
c.*1350G>T (n.*1350G>T)
c.1100G>T (p.Gly367Val)
c.1436G>T (p.Gly479Val)
c.1616G>T (p.Gly539Val)
c.1283G>T (p.Gly428Val)
n.221+1136C>A
 ClinVar gnomAD v4
7g.117559598T>ACA457228870CFTR,CFTR-AS1c.1527T>A (p.Gly509=)
c.*1241T>A (n.*1241T>A)
c.1344T>A (p.Gly448=)
c.*85T>A (n.*85T>A)
c.*1351T>A (n.*1351T>A)
c.1101T>A (p.Gly367=)
c.1437T>A (p.Gly479=)
c.1617T>A (p.Gly539=)
c.1284T>A (p.Gly428=)
n.221+1135A>T
7g.117559598T>CCA457228871CFTR,CFTR-AS1c.1527T>C (p.Gly509=)
c.*1241T>C (n.*1241T>C)
c.1344T>C (p.Gly448=)
c.*85T>C (n.*85T>C)
c.*1351T>C (n.*1351T>C)
c.1101T>C (p.Gly367=)
c.1437T>C (p.Gly479=)
c.1617T>C (p.Gly539=)
c.1284T>C (p.Gly428=)
n.221+1135A>G
7g.117559598T>GCA457228872CFTR,CFTR-AS1c.1527T>G (p.Gly509=)
c.*1241T>G (n.*1241T>G)
c.1344T>G (p.Gly448=)
c.*85T>G (n.*85T>G)
c.*1351T>G (n.*1351T>G)
c.1101T>G (p.Gly367=)
c.1437T>G (p.Gly479=)
c.1617T>G (p.Gly539=)
c.1284T>G (p.Gly428=)
n.221+1135A>C
7g.117559599delCA2573130180CFTR,CFTR-AS1c.1528del (p.Val510PhefsTer17)
c.*1242del (n.*1242del)
c.1345del (p.Val449PhefsTer17)
c.*86del (n.*86del)
c.*1352del (n.*1352del)
c.1102del (p.Val368PhefsTer17)
c.1438del (p.Val480PhefsTer17)
c.1618del (p.Val540PhefsTer17)
c.1285del (p.Val429PhefsTer17)
n.221+1134del
7g.117559599G>ACA4451017CFTR,CFTR-AS1c.1528G>A (p.Val510Ile)
c.*1242G>A (n.*1242G>A)
c.1345G>A (p.Val449Ile)
c.*86G>A (n.*86G>A)
c.*1352G>A (n.*1352G>A)
c.1102G>A (p.Val368Ile)
c.1438G>A (p.Val480Ile)
c.1618G>A (p.Val540Ile)
c.1285G>A (p.Val429Ile)
n.221+1134C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559599G>CCA368984755CFTR,CFTR-AS1c.1528G>C (p.Val510Leu)
c.*1242G>C (n.*1242G>C)
c.1345G>C (p.Val449Leu)
c.*86G>C (n.*86G>C)
c.*1352G>C (n.*1352G>C)
c.1102G>C (p.Val368Leu)
c.1438G>C (p.Val480Leu)
c.1618G>C (p.Val540Leu)
c.1285G>C (p.Val429Leu)
n.221+1134C>G
7g.117559599G=CA1737384714CFTR,CFTR-AS1c.1528G= (p.Val510=)
c.*1242G= (n.*1242G=)
c.1345G= (p.Val449=)
c.*86G= (n.*86G=)
c.*1352G= (n.*1352G=)
c.1102G= (p.Val368=)
c.1438G= (p.Val480=)
c.1618G= (p.Val540=)
c.1285G= (p.Val429=)
n.221+1134C=
7g.117559599G>TCA368984752CFTR,CFTR-AS1c.1528G>T (p.Val510Phe)
c.*1242G>T (n.*1242G>T)
c.1345G>T (p.Val449Phe)
c.*86G>T (n.*86G>T)
c.*1352G>T (n.*1352G>T)
c.1102G>T (p.Val368Phe)
c.1438G>T (p.Val480Phe)
c.1618G>T (p.Val540Phe)
c.1285G>T (p.Val429Phe)
n.221+1134C>A
 ClinVar dbSNP
7g.117559599_117559601delinsGTTCA1737384717CFTR,CFTR-AS1c.1528_1530delinsGTT (p.Val510=)
c.*1242_*1244delinsGTT (n.*1242_*1244delinsGTT)
c.1345_1347delinsGTT (p.Val449=)
c.*86_*88delinsGTT (n.*86_*88delinsGTT)
c.*1352_*1354delinsGTT (n.*1352_*1354delinsGTT)
c.1102_1104delinsGTT (p.Val368=)
c.1438_1440delinsGTT (p.Val480=)
c.1618_1620delinsGTT (p.Val540=)
c.1285_1287delinsGTT (p.Val429=)
n.221+1132_221+1134delinsAAC
7g.117559600T>ACA368984757CFTR,CFTR-AS1c.1529T>A (p.Val510Asp)
c.*1243T>A (n.*1243T>A)
c.1346T>A (p.Val449Asp)
c.*87T>A (n.*87T>A)
c.*1353T>A (n.*1353T>A)
c.1103T>A (p.Val368Asp)
c.1439T>A (p.Val480Asp)
c.1619T>A (p.Val540Asp)
c.1286T>A (p.Val429Asp)
n.221+1133A>T
7g.117559600T>CCA368984758CFTR,CFTR-AS1c.1529T>C (p.Val510Ala)
c.*1243T>C (n.*1243T>C)
c.1346T>C (p.Val449Ala)
c.*87T>C (n.*87T>C)
c.*1353T>C (n.*1353T>C)
c.1103T>C (p.Val368Ala)
c.1439T>C (p.Val480Ala)
c.1619T>C (p.Val540Ala)
c.1286T>C (p.Val429Ala)
n.221+1133A>G
 gnomAD v4
7g.117559600T>GCA368984761CFTR,CFTR-AS1c.1529T>G (p.Val510Gly)
c.*1243T>G (n.*1243T>G)
c.1346T>G (p.Val449Gly)
c.*87T>G (n.*87T>G)
c.*1353T>G (n.*1353T>G)
c.1103T>G (p.Val368Gly)
c.1439T>G (p.Val480Gly)
c.1619T>G (p.Val540Gly)
c.1286T>G (p.Val429Gly)
n.221+1133A>C
7g.117559601_117559602delCA913190000CFTR,CFTR-AS1c.1530_1531del (p.Ser511LeufsTer2)
c.*1244_*1245del (n.*1244_*1245del)
c.1347_1348del (p.Ser450LeufsTer2)
c.*88_*89del (n.*88_*89del)
c.*1354_*1355del (n.*1354_*1355del)
c.1104_1105del (p.Ser369LeufsTer2)
c.1440_1441del (p.Ser481LeufsTer2)
c.1620_1621del (p.Ser541LeufsTer2)
c.1287_1288del (p.Ser430LeufsTer2)
n.221+1132_221+1133del
 ClinVar dbSNP
7g.117559601T>ACA457228873CFTR,CFTR-AS1c.1530T>A (p.Val510=)
c.*1244T>A (n.*1244T>A)
c.1347T>A (p.Val449=)
c.*88T>A (n.*88T>A)
c.*1354T>A (n.*1354T>A)
c.1104T>A (p.Val368=)
c.1440T>A (p.Val480=)
c.1620T>A (p.Val540=)
c.1287T>A (p.Val429=)
n.221+1132A>T
7g.117559601T>CCA457228874CFTR,CFTR-AS1c.1530T>C (p.Val510=)
c.*1244T>C (n.*1244T>C)
c.1347T>C (p.Val449=)
c.*88T>C (n.*88T>C)
c.*1354T>C (n.*1354T>C)
c.1104T>C (p.Val368=)
c.1440T>C (p.Val480=)
c.1620T>C (p.Val540=)
c.1287T>C (p.Val429=)
n.221+1132A>G
7g.117559601T>GCA457228875CFTR,CFTR-AS1c.1530T>G (p.Val510=)
c.*1244T>G (n.*1244T>G)
c.1347T>G (p.Val449=)
c.*88T>G (n.*88T>G)
c.*1354T>G (n.*1354T>G)
c.1104T>G (p.Val368=)
c.1440T>G (p.Val480=)
c.1620T>G (p.Val540=)
c.1287T>G (p.Val429=)
n.221+1132A>C

Number of alleles fetched