Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559459dupCA2578999915CFTR,CFTR-AS1c.1393-5dup (n.1393-5dup)
c.*1107-5dup (n.*1107-5dup)
c.1210-5dup (n.1210-5dup)
c.1388-5dup (n.1388-5dup)
c.*1217-5dup (n.*1217-5dup)
c.967-5dup (n.967-5dup)
c.1303-5dup (n.1303-5dup)
c.1483-5dup (n.1483-5dup)
c.1150-5dup (n.1150-5dup)
n.221+1276dup
 gnomAD v4
7g.117559459T>ACA645558674CFTR,CFTR-AS1c.1393-5T>A (n.1393-5T>A)
c.*1107-5T>A (n.*1107-5T>A)
c.1210-5T>A (n.1210-5T>A)
c.1388-5T>A (n.1388-5T>A)
c.*1217-5T>A (n.*1217-5T>A)
c.967-5T>A (n.967-5T>A)
c.1303-5T>A (n.1303-5T>A)
c.1483-5T>A (n.1483-5T>A)
c.1150-5T>A (n.1150-5T>A)
n.221+1274A>T
 COSMIC
7g.117559459T>CCA2684618603CFTR,CFTR-AS1c.1393-5T>C (n.1393-5T>C)
c.*1107-5T>C (n.*1107-5T>C)
c.1210-5T>C (n.1210-5T>C)
c.1388-5T>C (n.1388-5T>C)
c.*1217-5T>C (n.*1217-5T>C)
c.967-5T>C (n.967-5T>C)
c.1303-5T>C (n.1303-5T>C)
c.1483-5T>C (n.1483-5T>C)
c.1150-5T>C (n.1150-5T>C)
n.221+1274A>G
 gnomAD v4
7g.117559460C>ACA2499218683CFTR,CFTR-AS1c.1393-4C>A (n.1393-4C>A)
c.*1107-4C>A (n.*1107-4C>A)
c.1210-4C>A (n.1210-4C>A)
c.1388-4C>A (n.1388-4C>A)
c.*1217-4C>A (n.*1217-4C>A)
c.967-4C>A (n.967-4C>A)
c.1303-4C>A (n.1303-4C>A)
c.1483-4C>A (n.1483-4C>A)
c.1150-4C>A (n.1150-4C>A)
n.221+1273G>T
 ClinVar dbSNP gnomAD v4
7g.117559460C=CA1737384024CFTR,CFTR-AS1c.1393-4C= (n.1393-4C=)
c.*1107-4C= (n.*1107-4C=)
c.1210-4C= (n.1210-4C=)
c.1388-4C= (n.1388-4C=)
c.*1217-4C= (n.*1217-4C=)
c.967-4C= (n.967-4C=)
c.1303-4C= (n.1303-4C=)
c.1483-4C= (n.1483-4C=)
c.1150-4C= (n.1150-4C=)
n.221+1273G=
7g.117559460C>GCA1737384025CFTR,CFTR-AS1c.1393-4C>G (n.1393-4C>G)
c.*1107-4C>G (n.*1107-4C>G)
c.1210-4C>G (n.1210-4C>G)
c.1388-4C>G (n.1388-4C>G)
c.*1217-4C>G (n.*1217-4C>G)
c.967-4C>G (n.967-4C>G)
c.1303-4C>G (n.1303-4C>G)
c.1483-4C>G (n.1483-4C>G)
c.1150-4C>G (n.1150-4C>G)
n.221+1273G>C
 ClinVar dbSNP
7g.117559460C>TCA2580076287CFTR,CFTR-AS1c.1393-4C>T (n.1393-4C>T)
c.*1107-4C>T (n.*1107-4C>T)
c.1210-4C>T (n.1210-4C>T)
c.1388-4C>T (n.1388-4C>T)
c.*1217-4C>T (n.*1217-4C>T)
c.967-4C>T (n.967-4C>T)
c.1303-4C>T (n.1303-4C>T)
c.1483-4C>T (n.1483-4C>T)
c.1150-4C>T (n.1150-4C>T)
n.221+1273G>A
 ClinVar gnomAD v4
7g.117559461C>ACA4451000CFTR,CFTR-AS1c.1393-3C>A (n.1393-3C>A)
c.*1107-3C>A (n.*1107-3C>A)
c.1210-3C>A (n.1210-3C>A)
c.1388-3C>A (n.1388-3C>A)
c.*1217-3C>A (n.*1217-3C>A)
c.967-3C>A (n.967-3C>A)
c.1303-3C>A (n.1303-3C>A)
c.1483-3C>A (n.1483-3C>A)
c.1150-3C>A (n.1150-3C>A)
n.221+1272G>T
 ClinVar dbSNP ExAC gnomAD v4
7g.117559461C=CA1737384028CFTR,CFTR-AS1c.1393-3C= (n.1393-3C=)
c.*1107-3C= (n.*1107-3C=)
c.1210-3C= (n.1210-3C=)
c.1388-3C= (n.1388-3C=)
c.*1217-3C= (n.*1217-3C=)
c.967-3C= (n.967-3C=)
c.1303-3C= (n.1303-3C=)
c.1483-3C= (n.1483-3C=)
c.1150-3C= (n.1150-3C=)
n.221+1272G=
7g.117559461_117559462delCA2578999918CFTR,CFTR-AS1c.1393-3_1393-2del (n.1393-3_1393-2del)
c.*1107-3_*1107-2del (n.*1107-3_*1107-2del)
c.1210-3_1210-2del (n.1210-3_1210-2del)
c.1388-3_1388-2del (n.1388-3_1388-2del)
c.*1217-3_*1217-2del (n.*1217-3_*1217-2del)
c.967-3_967-2del (n.967-3_967-2del)
c.1303-3_1303-2del (n.1303-3_1303-2del)
c.1483-3_1483-2del (n.1483-3_1483-2del)
c.1150-3_1150-2del (n.1150-3_1150-2del)
n.221+1271_221+1272del
7g.117559462A=CA1737384033CFTR,CFTR-AS1c.1393-2A= (n.1393-2A=)
c.*1107-2A= (n.*1107-2A=)
c.1210-2A= (n.1210-2A=)
c.1388-2A= (n.1388-2A=)
c.*1217-2A= (n.*1217-2A=)
c.967-2A= (n.967-2A=)
c.1303-2A= (n.1303-2A=)
c.1483-2A= (n.1483-2A=)
c.1150-2A= (n.1150-2A=)
n.221+1271T=
7g.117559462A>CCA368984294CFTR,CFTR-AS1c.1393-2A>C (n.1393-2A>C)
c.*1107-2A>C (n.*1107-2A>C)
c.1210-2A>C (n.1210-2A>C)
c.1388-2A>C (n.1388-2A>C)
c.*1217-2A>C (n.*1217-2A>C)
c.967-2A>C (n.967-2A>C)
c.1303-2A>C (n.1303-2A>C)
c.1483-2A>C (n.1483-2A>C)
c.1150-2A>C (n.1150-2A>C)
n.221+1271T>G
7g.117559462A>GCA326468CFTR,CFTR-AS1c.1393-2A>G (n.1393-2A>G)
c.*1107-2A>G (n.*1107-2A>G)
c.1210-2A>G (n.1210-2A>G)
c.1388-2A>G (n.1388-2A>G)
c.*1217-2A>G (n.*1217-2A>G)
c.967-2A>G (n.967-2A>G)
c.1303-2A>G (n.1303-2A>G)
c.1483-2A>G (n.1483-2A>G)
c.1150-2A>G (n.1150-2A>G)
n.221+1271T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559462A>TCA368984293CFTR,CFTR-AS1c.1393-2A>T (n.1393-2A>T)
c.*1107-2A>T (n.*1107-2A>T)
c.1210-2A>T (n.1210-2A>T)
c.1388-2A>T (n.1388-2A>T)
c.*1217-2A>T (n.*1217-2A>T)
c.967-2A>T (n.967-2A>T)
c.1303-2A>T (n.1303-2A>T)
c.1483-2A>T (n.1483-2A>T)
c.1150-2A>T (n.1150-2A>T)
n.221+1271T>A
7g.117559463delCA2695208315CFTR,CFTR-AS1c.1393-1del (n.1393-1del)
c.*1107-1del (n.*1107-1del)
c.1210-1del (n.1210-1del)
c.1388-1del (n.1388-1del)
c.*1217-1del (n.*1217-1del)
c.967-1del (n.967-1del)
c.1303-1del (n.1303-1del)
c.1483-1del (n.1483-1del)
c.1150-1del (n.1150-1del)
n.221+1270del
7g.117559463G>ACA345305CFTR,CFTR-AS1c.1393-1G>A (n.1393-1G>A)
c.*1107-1G>A (n.*1107-1G>A)
c.1210-1G>A (n.1210-1G>A)
c.1388-1G>A (n.1388-1G>A)
c.*1217-1G>A (n.*1217-1G>A)
c.967-1G>A (n.967-1G>A)
c.1303-1G>A (n.1303-1G>A)
c.1483-1G>A (n.1483-1G>A)
c.1150-1G>A (n.1150-1G>A)
n.221+1270C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559463G>CCA368984295CFTR,CFTR-AS1c.1393-1G>C (n.1393-1G>C)
c.*1107-1G>C (n.*1107-1G>C)
c.1210-1G>C (n.1210-1G>C)
c.1388-1G>C (n.1388-1G>C)
c.*1217-1G>C (n.*1217-1G>C)
c.967-1G>C (n.967-1G>C)
c.1303-1G>C (n.1303-1G>C)
c.1483-1G>C (n.1483-1G>C)
c.1150-1G>C (n.1150-1G>C)
n.221+1270C>G
 dbSNP
7g.117559463G=CA1737384039CFTR,CFTR-AS1c.1393-1G= (n.1393-1G=)
c.*1107-1G= (n.*1107-1G=)
c.1210-1G= (n.1210-1G=)
c.1388-1G= (n.1388-1G=)
c.*1217-1G= (n.*1217-1G=)
c.967-1G= (n.967-1G=)
c.1303-1G= (n.1303-1G=)
c.1483-1G= (n.1483-1G=)
c.1150-1G= (n.1150-1G=)
n.221+1270C=
7g.117559463G>TCA368984296CFTR,CFTR-AS1c.1393-1G>T (n.1393-1G>T)
c.*1107-1G>T (n.*1107-1G>T)
c.1210-1G>T (n.1210-1G>T)
c.1388-1G>T (n.1388-1G>T)
c.*1217-1G>T (n.*1217-1G>T)
c.967-1G>T (n.967-1G>T)
c.1303-1G>T (n.1303-1G>T)
c.1483-1G>T (n.1483-1G>T)
c.1150-1G>T (n.1150-1G>T)
n.221+1270C>A
7g.117559464A>CCA368984297CFTR,CFTR-AS1c.1393A>C (p.Thr465Pro)
c.*1107A>C (n.*1107A>C)
c.1210A>C (p.Thr404Pro)
c.1388A>C (p.Asp463Ala)
c.*1217A>C (n.*1217A>C)
c.967A>C (p.Thr323Pro)
c.1303A>C (p.Thr435Pro)
c.1483A>C (p.Thr495Pro)
c.1150A>C (p.Thr384Pro)
n.221+1269T>G
7g.117559464A>GCA368984298CFTR,CFTR-AS1c.1393A>G (p.Thr465Ala)
c.*1107A>G (n.*1107A>G)
c.1210A>G (p.Thr404Ala)
c.1388A>G (p.Asp463Gly)
c.*1217A>G (n.*1217A>G)
c.967A>G (p.Thr323Ala)
c.1303A>G (p.Thr435Ala)
c.1483A>G (p.Thr495Ala)
c.1150A>G (p.Thr384Ala)
n.221+1269T>C
7g.117559464A>TCA368984299CFTR,CFTR-AS1c.1393A>T (p.Thr465Ser)
c.*1107A>T (n.*1107A>T)
c.1210A>T (p.Thr404Ser)
c.1388A>T (p.Asp463Val)
c.*1217A>T (n.*1217A>T)
c.967A>T (p.Thr323Ser)
c.1303A>T (p.Thr435Ser)
c.1483A>T (p.Thr495Ser)
c.1150A>T (p.Thr384Ser)
n.221+1269T>A
7g.117559465C>ACA4451001CFTR,CFTR-AS1c.1394C>A (p.Thr465Asn)
c.*1108C>A (n.*1108C>A)
c.1211C>A (p.Thr404Asn)
c.1389C>A (p.Asp463Glu)
c.*1218C>A (n.*1218C>A)
c.968C>A (p.Thr323Asn)
c.1304C>A (p.Thr435Asn)
c.1484C>A (p.Thr495Asn)
c.1151C>A (p.Thr384Asn)
n.221+1268G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559465C=CA1737384048CFTR,CFTR-AS1c.1394C= (p.Thr465=)
c.*1108C= (n.*1108C=)
c.1211C= (p.Thr404=)
c.1389C= (p.Asp463=)
c.*1218C= (n.*1218C=)
c.968C= (p.Thr323=)
c.1304C= (p.Thr435=)
c.1484C= (p.Thr495=)
c.1151C= (p.Thr384=)
n.221+1268G=
7g.117559465C>GCA368984300CFTR,CFTR-AS1c.1394C>G (p.Thr465Ser)
c.*1108C>G (n.*1108C>G)
c.1211C>G (p.Thr404Ser)
c.1389C>G (p.Asp463Glu)
c.*1218C>G (n.*1218C>G)
c.968C>G (p.Thr323Ser)
c.1304C>G (p.Thr435Ser)
c.1484C>G (p.Thr495Ser)
c.1151C>G (p.Thr384Ser)
n.221+1268G>C
7g.117559465C>TCA368984301CFTR,CFTR-AS1c.1394C>T (p.Thr465Ile)
c.*1108C>T (n.*1108C>T)
c.1211C>T (p.Thr404Ile)
c.1389C>T (p.Asp463=)
c.*1218C>T (n.*1218C>T)
c.968C>T (p.Thr323Ile)
c.1304C>T (p.Thr435Ile)
c.1484C>T (p.Thr495Ile)
c.1151C>T (p.Thr384Ile)
n.221+1268G>A
 ClinVar gnomAD v4
7g.117559466T>ACA457228733CFTR,CFTR-AS1c.1395T>A (p.Thr465=)
c.*1109T>A (n.*1109T>A)
c.1212T>A (p.Thr404=)
c.1390T>A (p.Phe464Ile)
c.*1219T>A (n.*1219T>A)
c.969T>A (p.Thr323=)
c.1305T>A (p.Thr435=)
c.1485T>A (p.Thr495=)
c.1152T>A (p.Thr384=)
n.221+1267A>T
 gnomAD v4
7g.117559466T>CCA457228734CFTR,CFTR-AS1c.1395T>C (p.Thr465=)
c.*1109T>C (n.*1109T>C)
c.1212T>C (p.Thr404=)
c.1390T>C (p.Phe464Leu)
c.*1219T>C (n.*1219T>C)
c.969T>C (p.Thr323=)
c.1305T>C (p.Thr435=)
c.1485T>C (p.Thr495=)
c.1152T>C (p.Thr384=)
n.221+1267A>G
 ClinVar gnomAD v4
7g.117559466T>GCA457228735CFTR,CFTR-AS1c.1395T>G (p.Thr465=)
c.*1109T>G (n.*1109T>G)
c.1212T>G (p.Thr404=)
c.1390T>G (p.Phe464Val)
c.*1219T>G (n.*1219T>G)
c.969T>G (p.Thr323=)
c.1305T>G (p.Thr435=)
c.1485T>G (p.Thr495=)
c.1152T>G (p.Thr384=)
n.221+1267A>C
7g.117559467T>ACA368984302CFTR,CFTR-AS1c.1396T>A (p.Ser466Thr)
c.*1110T>A (n.*1110T>A)
c.1213T>A (p.Ser405Thr)
c.1391T>A (p.Phe464Tyr)
c.*1220T>A (n.*1220T>A)
c.970T>A (p.Ser324Thr)
c.1306T>A (p.Ser436Thr)
c.1486T>A (p.Ser496Thr)
c.1153T>A (p.Ser385Thr)
n.221+1266A>T
7g.117559467T>CCA368984303CFTR,CFTR-AS1c.1396T>C (p.Ser466Pro)
c.*1110T>C (n.*1110T>C)
c.1213T>C (p.Ser405Pro)
c.1391T>C (p.Phe464Ser)
c.*1220T>C (n.*1220T>C)
c.970T>C (p.Ser324Pro)
c.1306T>C (p.Ser436Pro)
c.1486T>C (p.Ser496Pro)
c.1153T>C (p.Ser385Pro)
n.221+1266A>G
7g.117559467T>GCA368984304CFTR,CFTR-AS1c.1396T>G (p.Ser466Ala)
c.*1110T>G (n.*1110T>G)
c.1213T>G (p.Ser405Ala)
c.1391T>G (p.Phe464Cys)
c.*1220T>G (n.*1220T>G)
c.970T>G (p.Ser324Ala)
c.1306T>G (p.Ser436Ala)
c.1486T>G (p.Ser496Ala)
c.1153T>G (p.Ser385Ala)
n.221+1266A>C
7g.117559468C>ACA328085CFTR,CFTR-AS1c.1397C>A (p.Ser466Ter)
c.*1111C>A (n.*1111C>A)
c.1214C>A (p.Ser405Ter)
c.1392C>A (p.Phe464Leu)
c.*1221C>A (n.*1221C>A)
c.971C>A (p.Ser324Ter)
c.1307C>A (p.Ser436Ter)
c.1487C>A (p.Ser496Ter)
c.1154C>A (p.Ser385Ter)
n.221+1265G>T
 ClinVar dbSNP gnomAD v4
7g.117559468C=CA1737384062CFTR,CFTR-AS1c.1397C= (p.Ser466=)
c.*1111C= (n.*1111C=)
c.1214C= (p.Ser405=)
c.1392C= (p.Phe464=)
c.*1221C= (n.*1221C=)
c.971C= (p.Ser324=)
c.1307C= (p.Ser436=)
c.1487C= (p.Ser496=)
c.1154C= (p.Ser385=)
n.221+1265G=
7g.117559468C>GCA342833CFTR,CFTR-AS1c.1397C>G (p.Ser466Ter)
c.*1111C>G (n.*1111C>G)
c.1214C>G (p.Ser405Ter)
c.1392C>G (p.Phe464Leu)
c.*1221C>G (n.*1221C>G)
c.971C>G (p.Ser324Ter)
c.1307C>G (p.Ser436Ter)
c.1487C>G (p.Ser496Ter)
c.1154C>G (p.Ser385Ter)
n.221+1265G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.[117559468C>G;117611650G>A]CA913203341CFTRc.[1397C>G;3209G>A] (p.Ser466Ter)
c.[*1111C>G;*2923G>A] (n.[*1111C>G;*2923G>A])
c.[1214C>G;3026G>A] (p.Ser405Ter)
c.[1397C>G;*1509G>A] (p.Ser466Ter)
c.[*1221C>G;*3033G>A] (n.[*1221C>G;*3033G>A])
c.[971C>G;2783G>A] (p.Ser324Ter)
c.[1214C>G;1991G>A] (p.Ser405Ter)
c.[1307C>G;3119G>A] (p.Ser436Ter)
c.[1487C>G;3299G>A] (p.Ser496Ter)
c.[1154C>G;2966G>A] (p.Ser385Ter)
 ClinVar
7g.117559468C>TCA326469CFTR,CFTR-AS1c.1397C>T (p.Ser466Leu)
c.*1111C>T (n.*1111C>T)
c.1214C>T (p.Ser405Leu)
c.1392C>T (p.Phe464=)
c.*1221C>T (n.*1221C>T)
c.971C>T (p.Ser324Leu)
c.1307C>T (p.Ser436Leu)
c.1487C>T (p.Ser496Leu)
c.1154C>T (p.Ser385Leu)
n.221+1265G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117559469A>CCA457228738CFTR,CFTR-AS1c.1398A>C (p.Ser466=)
c.*1112A>C (n.*1112A>C)
c.1215A>C (p.Ser405=)
c.1393A>C (p.Thr465Pro)
c.*1222A>C (n.*1222A>C)
c.972A>C (p.Ser324=)
c.1308A>C (p.Ser436=)
c.1488A>C (p.Ser496=)
c.1155A>C (p.Ser385=)
n.221+1264T>G
7g.117559469A>GCA457228737CFTR,CFTR-AS1c.1398A>G (p.Ser466=)
c.*1112A>G (n.*1112A>G)
c.1215A>G (p.Ser405=)
c.1393A>G (p.Thr465Ala)
c.*1222A>G (n.*1222A>G)
c.972A>G (p.Ser324=)
c.1308A>G (p.Ser436=)
c.1488A>G (p.Ser496=)
c.1155A>G (p.Ser385=)
n.221+1264T>C
7g.117559469A>TCA457228736CFTR,CFTR-AS1c.1398A>T (p.Ser466=)
c.*1112A>T (n.*1112A>T)
c.1215A>T (p.Ser405=)
c.1393A>T (p.Thr465Ser)
c.*1222A>T (n.*1222A>T)
c.972A>T (p.Ser324=)
c.1308A>T (p.Ser436=)
c.1488A>T (p.Ser496=)
c.1155A>T (p.Ser385=)
n.221+1264T>A
7g.117559470C>ACA368984306CFTR,CFTR-AS1c.1399C>A (p.Leu467Ile)
c.*1113C>A (n.*1113C>A)
c.1216C>A (p.Leu406Ile)
c.1394C>A (p.Thr465Asn)
c.*1223C>A (n.*1223C>A)
c.973C>A (p.Leu325Ile)
c.1309C>A (p.Leu437Ile)
c.1489C>A (p.Leu497Ile)
c.1156C>A (p.Leu386Ile)
n.221+1263G>T
 gnomAD v4
7g.117559470C=CA1737384069CFTR,CFTR-AS1c.1399C= (p.Leu467=)
c.*1113C= (n.*1113C=)
c.1216C= (p.Leu406=)
c.1394C= (p.Thr465=)
c.*1223C= (n.*1223C=)
c.973C= (p.Leu325=)
c.1309C= (p.Leu437=)
c.1489C= (p.Leu497=)
c.1156C= (p.Leu386=)
n.221+1263G=
7g.117559470C>GCA368984305CFTR,CFTR-AS1c.1399C>G (p.Leu467Val)
c.*1113C>G (n.*1113C>G)
c.1216C>G (p.Leu406Val)
c.1394C>G (p.Thr465Ser)
c.*1223C>G (n.*1223C>G)
c.973C>G (p.Leu325Val)
c.1309C>G (p.Leu437Val)
c.1489C>G (p.Leu497Val)
c.1156C>G (p.Leu386Val)
n.221+1263G>C
7g.117559470C>TCA326471CFTR,CFTR-AS1c.1399C>T (p.Leu467Phe)
c.*1113C>T (n.*1113C>T)
c.1216C>T (p.Leu406Phe)
c.1394C>T (p.Thr465Ile)
c.*1223C>T (n.*1223C>T)
c.973C>T (p.Leu325Phe)
c.1309C>T (p.Leu437Phe)
c.1489C>T (p.Leu497Phe)
c.1156C>T (p.Leu386Phe)
n.221+1263G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559471T>ACA368984307CFTR,CFTR-AS1c.1400T>A (p.Leu467His)
c.*1114T>A (n.*1114T>A)
c.1217T>A (p.Leu406His)
c.1395T>A (p.Thr465=)
c.*1224T>A (n.*1224T>A)
c.974T>A (p.Leu325His)
c.1310T>A (p.Leu437His)
c.1490T>A (p.Leu497His)
c.1157T>A (p.Leu386His)
n.221+1262A>T
7g.117559471T>CCA342834CFTR,CFTR-AS1c.1400T>C (p.Leu467Pro)
c.*1114T>C (n.*1114T>C)
c.1217T>C (p.Leu406Pro)
c.1395T>C (p.Thr465=)
c.*1224T>C (n.*1224T>C)
c.974T>C (p.Leu325Pro)
c.1310T>C (p.Leu437Pro)
c.1490T>C (p.Leu497Pro)
c.1157T>C (p.Leu386Pro)
n.221+1262A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559471T>GCA368984308CFTR,CFTR-AS1c.1400T>G (p.Leu467Arg)
c.*1114T>G (n.*1114T>G)
c.1217T>G (p.Leu406Arg)
c.1395T>G (p.Thr465=)
c.*1224T>G (n.*1224T>G)
c.974T>G (p.Leu325Arg)
c.1310T>G (p.Leu437Arg)
c.1490T>G (p.Leu497Arg)
c.1157T>G (p.Leu386Arg)
n.221+1262A>C
7g.117559471T=CA1737384078CFTR,CFTR-AS1c.1400T= (p.Leu467=)
c.*1114T= (n.*1114T=)
c.1217T= (p.Leu406=)
c.1395T= (p.Thr465=)
c.*1224T= (n.*1224T=)
c.974T= (p.Leu325=)
c.1310T= (p.Leu437=)
c.1490T= (p.Leu497=)
c.1157T= (p.Leu386=)
n.221+1262A=
7g.117559472T>ACA457228740CFTR,CFTR-AS1c.1401T>A (p.Leu467=)
c.*1115T>A (n.*1115T>A)
c.1218T>A (p.Leu406=)
c.1396T>A (p.Ser466Thr)
c.*1225T>A (n.*1225T>A)
c.975T>A (p.Leu325=)
c.1311T>A (p.Leu437=)
c.1491T>A (p.Leu497=)
c.1158T>A (p.Leu386=)
n.221+1261A>T
7g.117559472T>CCA457228741CFTR,CFTR-AS1c.1401T>C (p.Leu467=)
c.*1115T>C (n.*1115T>C)
c.1218T>C (p.Leu406=)
c.1396T>C (p.Ser466Pro)
c.*1225T>C (n.*1225T>C)
c.975T>C (p.Leu325=)
c.1311T>C (p.Leu437=)
c.1491T>C (p.Leu497=)
c.1158T>C (p.Leu386=)
n.221+1261A>G
 ClinVar
7g.117559472T>GCA457228742CFTR,CFTR-AS1c.1401T>G (p.Leu467=)
c.*1115T>G (n.*1115T>G)
c.1218T>G (p.Leu406=)
c.1396T>G (p.Ser466Ala)
c.*1225T>G (n.*1225T>G)
c.975T>G (p.Leu325=)
c.1311T>G (p.Leu437=)
c.1491T>G (p.Leu497=)
c.1158T>G (p.Leu386=)
n.221+1261A>C
7g.117559473C>ACA368984309CFTR,CFTR-AS1c.1402C>A (p.Leu468Ile)
c.*1116C>A (n.*1116C>A)
c.1219C>A (p.Leu407Ile)
c.1397C>A (p.Ser466Tyr)
c.*1226C>A (n.*1226C>A)
c.976C>A (p.Leu326Ile)
c.1312C>A (p.Leu438Ile)
c.1492C>A (p.Leu498Ile)
c.1159C>A (p.Leu387Ile)
n.221+1260G>T
 gnomAD v4
7g.117559473C>GCA368984310CFTR,CFTR-AS1c.1402C>G (p.Leu468Val)
c.*1116C>G (n.*1116C>G)
c.1219C>G (p.Leu407Val)
c.1397C>G (p.Ser466Cys)
c.*1226C>G (n.*1226C>G)
c.976C>G (p.Leu326Val)
c.1312C>G (p.Leu438Val)
c.1492C>G (p.Leu498Val)
c.1159C>G (p.Leu387Val)
n.221+1260G>C
7g.117559473C>TCA457228743CFTR,CFTR-AS1c.1402C>T (p.Leu468=)
c.*1116C>T (n.*1116C>T)
c.1219C>T (p.Leu407=)
c.1397C>T (p.Ser466Phe)
c.*1226C>T (n.*1226C>T)
c.976C>T (p.Leu326=)
c.1312C>T (p.Leu438=)
c.1492C>T (p.Leu498=)
c.1159C>T (p.Leu387=)
n.221+1260G>A
 ClinVar
7g.117559474T>ACA368984311CFTR,CFTR-AS1c.1403T>A (p.Leu468Gln)
c.*1117T>A (n.*1117T>A)
c.1220T>A (p.Leu407Gln)
c.1398T>A (p.Ser466=)
c.*1227T>A (n.*1227T>A)
c.977T>A (p.Leu326Gln)
c.1313T>A (p.Leu438Gln)
c.1493T>A (p.Leu498Gln)
c.1160T>A (p.Leu387Gln)
n.221+1259A>T
7g.117559474T>CCA326473CFTR,CFTR-AS1c.1403T>C (p.Leu468Pro)
c.*1117T>C (n.*1117T>C)
c.1220T>C (p.Leu407Pro)
c.1398T>C (p.Ser466=)
c.*1227T>C (n.*1227T>C)
c.977T>C (p.Leu326Pro)
c.1313T>C (p.Leu438Pro)
c.1493T>C (p.Leu498Pro)
c.1160T>C (p.Leu387Pro)
n.221+1259A>G
 ClinVar dbSNP gnomAD v4
7g.117559474T>GCA368984312CFTR,CFTR-AS1c.1403T>G (p.Leu468Arg)
c.*1117T>G (n.*1117T>G)
c.1220T>G (p.Leu407Arg)
c.1398T>G (p.Ser466=)
c.*1227T>G (n.*1227T>G)
c.977T>G (p.Leu326Arg)
c.1313T>G (p.Leu438Arg)
c.1493T>G (p.Leu498Arg)
c.1160T>G (p.Leu387Arg)
n.221+1259A>C
7g.117559474T=CA1737384086CFTR,CFTR-AS1c.1403T= (p.Leu468=)
c.*1117T= (n.*1117T=)
c.1220T= (p.Leu407=)
c.1398T= (p.Ser466=)
c.*1227T= (n.*1227T=)
c.977T= (p.Leu326=)
c.1313T= (p.Leu438=)
c.1493T= (p.Leu498=)
c.1160T= (p.Leu387=)
n.221+1259A=
7g.117559475A>CCA457228745CFTR,CFTR-AS1c.1404A>C (p.Leu468=)
c.*1118A>C (n.*1118A>C)
c.1221A>C (p.Leu407=)
c.1399A>C (p.Asn467His)
c.*1228A>C (n.*1228A>C)
c.978A>C (p.Leu326=)
c.1314A>C (p.Leu438=)
c.1494A>C (p.Leu498=)
c.1161A>C (p.Leu387=)
n.221+1258T>G
7g.117559475A>GCA457228747CFTR,CFTR-AS1c.1404A>G (p.Leu468=)
c.*1118A>G (n.*1118A>G)
c.1221A>G (p.Leu407=)
c.1399A>G (p.Asn467Asp)
c.*1228A>G (n.*1228A>G)
c.978A>G (p.Leu326=)
c.1314A>G (p.Leu438=)
c.1494A>G (p.Leu498=)
c.1161A>G (p.Leu387=)
n.221+1258T>C
7g.117559475A>TCA457228746CFTR,CFTR-AS1c.1404A>T (p.Leu468=)
c.*1118A>T (n.*1118A>T)
c.1221A>T (p.Leu407=)
c.1399A>T (p.Asn467Tyr)
c.*1228A>T (n.*1228A>T)
c.978A>T (p.Leu326=)
c.1314A>T (p.Leu438=)
c.1494A>T (p.Leu498=)
c.1161A>T (p.Leu387=)
n.221+1258T>A
7g.117559476A=CA1737384097CFTR,CFTR-AS1c.1405A= (p.Met469=)
c.*1119A= (n.*1119A=)
c.1222A= (p.Met408=)
c.1400A= (p.Asn467=)
c.*1229A= (n.*1229A=)
c.979A= (p.Met327=)
c.1315A= (p.Met439=)
c.1495A= (p.Met499=)
c.1162A= (p.Met388=)
n.221+1257T=
7g.117559476A>CCA368984313CFTR,CFTR-AS1c.1405A>C (p.Met469Leu)
c.*1119A>C (n.*1119A>C)
c.1222A>C (p.Met408Leu)
c.1400A>C (p.Asn467Thr)
c.*1229A>C (n.*1229A>C)
c.979A>C (p.Met327Leu)
c.1315A>C (p.Met439Leu)
c.1495A>C (p.Met499Leu)
c.1162A>C (p.Met388Leu)
n.221+1257T>G
7g.117559476A>GCA326475CFTR,CFTR-AS1c.1405A>G (p.Met469Val)
c.*1119A>G (n.*1119A>G)
c.1222A>G (p.Met408Val)
c.1400A>G (p.Asn467Ser)
c.*1229A>G (n.*1229A>G)
c.979A>G (p.Met327Val)
c.1315A>G (p.Met439Val)
c.1495A>G (p.Met499Val)
c.1162A>G (p.Met388Val)
n.221+1257T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559476A>TCA368984314CFTR,CFTR-AS1c.1405A>T (p.Met469Leu)
c.*1119A>T (n.*1119A>T)
c.1222A>T (p.Met408Leu)
c.1400A>T (p.Asn467Ile)
c.*1229A>T (n.*1229A>T)
c.979A>T (p.Met327Leu)
c.1315A>T (p.Met439Leu)
c.1495A>T (p.Met499Leu)
c.1162A>T (p.Met388Leu)
n.221+1257T>A
 ClinVar
7g.117559477T>ACA368984315CFTR,CFTR-AS1c.1406T>A (p.Met469Lys)
c.*1120T>A (n.*1120T>A)
c.1223T>A (p.Met408Lys)
c.1401T>A (p.Asn467Lys)
c.*1230T>A (n.*1230T>A)
c.980T>A (p.Met327Lys)
c.1316T>A (p.Met439Lys)
c.1496T>A (p.Met499Lys)
c.1163T>A (p.Met388Lys)
n.221+1256A>T
7g.117559477T>CCA368984316CFTR,CFTR-AS1c.1406T>C (p.Met469Thr)
c.*1120T>C (n.*1120T>C)
c.1223T>C (p.Met408Thr)
c.1401T>C (p.Asn467=)
c.*1230T>C (n.*1230T>C)
c.980T>C (p.Met327Thr)
c.1316T>C (p.Met439Thr)
c.1496T>C (p.Met499Thr)
c.1163T>C (p.Met388Thr)
n.221+1256A>G
 gnomAD v4
7g.117559477T>GCA368984317CFTR,CFTR-AS1c.1406T>G (p.Met469Arg)
c.*1120T>G (n.*1120T>G)
c.1223T>G (p.Met408Arg)
c.1401T>G (p.Asn467Lys)
c.*1230T>G (n.*1230T>G)
c.980T>G (p.Met327Arg)
c.1316T>G (p.Met439Arg)
c.1496T>G (p.Met499Arg)
c.1163T>G (p.Met388Arg)
n.221+1256A>C
7g.117559477_117559487delinsTGGTGATTATGCA1737384101CFTR,CFTR-AS1c.1406_1416delinsTGGTGATTATG (p.Met469=)
c.*1120_*1130delinsTGGTGATTATG (n.*1120_*1130delinsTGGTGATTATG)
c.1223_1233delinsTGGTGATTATG (p.Met408=)
c.1401_1411delinsTGGTGATTATG (p.Asn467=)
c.*1230_*1240delinsTGGTGATTATG (n.*1230_*1240delinsTGGTGATTATG)
c.980_990delinsTGGTGATTATG (p.Met327=)
c.1316_1326delinsTGGTGATTATG (p.Met439=)
c.1496_1506delinsTGGTGATTATG (p.Met499=)
c.1163_1173delinsTGGTGATTATG (p.Met388=)
n.221+1246_221+1256delinsCATAATCACCA
7g.117559478G>ACA4451002CFTR,CFTR-AS1c.1407G>A (p.Met469Ile)
c.*1121G>A (n.*1121G>A)
c.1224G>A (p.Met408Ile)
c.1402G>A (p.Gly468Ser)
c.*1231G>A (n.*1231G>A)
c.981G>A (p.Met327Ile)
c.1317G>A (p.Met439Ile)
c.1497G>A (p.Met499Ile)
c.1164G>A (p.Met388Ile)
n.221+1255C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559478G>CCA368984318CFTR,CFTR-AS1c.1407G>C (p.Met469Ile)
c.*1121G>C (n.*1121G>C)
c.1224G>C (p.Met408Ile)
c.1402G>C (p.Gly468Arg)
c.*1231G>C (n.*1231G>C)
c.981G>C (p.Met327Ile)
c.1317G>C (p.Met439Ile)
c.1497G>C (p.Met499Ile)
c.1164G>C (p.Met388Ile)
n.221+1255C>G
7g.117559478G=CA1737384114CFTR,CFTR-AS1c.1407G= (p.Met469=)
c.*1121G= (n.*1121G=)
c.1224G= (p.Met408=)
c.1402G= (p.Gly468=)
c.*1231G= (n.*1231G=)
c.981G= (p.Met327=)
c.1317G= (p.Met439=)
c.1497G= (p.Met499=)
c.1164G= (p.Met388=)
n.221+1255C=
7g.117559478G>TCA326477CFTR,CFTR-AS1c.1407G>T (p.Met469Ile)
c.*1121G>T (n.*1121G>T)
c.1224G>T (p.Met408Ile)
c.1402G>T (p.Gly468Cys)
c.*1231G>T (n.*1231G>T)
c.981G>T (p.Met327Ile)
c.1317G>T (p.Met439Ile)
c.1497G>T (p.Met499Ile)
c.1164G>T (p.Met388Ile)
n.221+1255C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559479delCA2695208316CFTR,CFTR-AS1c.1408del (p.Val470Ter)
c.*1122del (n.*1122del)
c.1225del (p.Val409Ter)
c.1403del (p.Gly468ValfsTer?)
c.*1232del (n.*1232del)
c.982del (p.Val328Ter)
c.1318del (p.Val440Ter)
c.1498del (p.Val500Ter)
c.1165del (p.Val389Ter)
n.221+1255del
7g.117559480_117559489delCA326479CFTR,CFTR-AS1c.1409_1418del (p.Val470GlufsTer?)
c.*1123_*1132del (n.*1123_*1132del)
c.1226_1235del (p.Val409GlufsTer?)
c.1404_1413del (p.Asp469GlufsTer?)
c.*1233_*1242del (n.*1233_*1242del)
c.983_992del (p.Val328GlufsTer?)
c.1319_1328del (p.Val440GlufsTer?)
c.1499_1508del (p.Val500GlufsTer?)
c.1166_1175del (p.Val389GlufsTer?)
n.221+1246_221+1255del
 ClinVar dbSNP gnomAD v4
7g.117559479G>ACA132747CFTR,CFTR-AS1c.1408G>A (p.Val470Met)
c.*1122G>A (n.*1122G>A)
c.1225G>A (p.Val409Met)
c.1403G>A (p.Gly468Asp)
c.*1232G>A (n.*1232G>A)
c.982G>A (p.Val328Met)
c.1318G>A (p.Val440Met)
c.1498G>A (p.Val500Met)
c.1165G>A (p.Val389Met)
n.221+1254C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559479G>CCA368984319CFTR,CFTR-AS1c.1408G>C (p.Val470Leu)
c.*1122G>C (n.*1122G>C)
c.1225G>C (p.Val409Leu)
c.1403G>C (p.Gly468Ala)
c.*1232G>C (n.*1232G>C)
c.982G>C (p.Val328Leu)
c.1318G>C (p.Val440Leu)
c.1498G>C (p.Val500Leu)
c.1165G>C (p.Val389Leu)
n.221+1254C>G
7g.117559479G=CA215118CFTR,CFTR-AS1c.1408G= (p.Val470=)
c.*1122G= (n.*1122G=)
c.1225G= (p.Val409=)
c.1403G= (p.Gly468=)
c.*1232G= (n.*1232G=)
c.982G= (p.Val328=)
c.1318G= (p.Val440=)
c.1498G= (p.Val500=)
c.1165G= (p.Val389=)
n.221+1254C=
7g.117559479G>TCA368984320CFTR,CFTR-AS1c.1408G>T (p.Val470Leu)
c.*1122G>T (n.*1122G>T)
c.1225G>T (p.Val409Leu)
c.1403G>T (p.Gly468Val)
c.*1232G>T (n.*1232G>T)
c.982G>T (p.Val328Leu)
c.1318G>T (p.Val440Leu)
c.1498G>T (p.Val500Leu)
c.1165G>T (p.Val389Leu)
n.221+1254C>A
7g.117559480T>ACA368984321CFTR,CFTR-AS1c.1409T>A (p.Val470Glu)
c.*1123T>A (n.*1123T>A)
c.1226T>A (p.Val409Glu)
c.1404T>A (p.Gly468=)
c.*1233T>A (n.*1233T>A)
c.983T>A (p.Val328Glu)
c.1319T>A (p.Val440Glu)
c.1499T>A (p.Val500Glu)
c.1166T>A (p.Val389Glu)
n.221+1253A>T
 ClinVar dbSNP
7g.117559480T>CCA368984322CFTR,CFTR-AS1c.1409T>C (p.Val470Ala)
c.*1123T>C (n.*1123T>C)
c.1226T>C (p.Val409Ala)
c.1404T>C (p.Gly468=)
c.*1233T>C (n.*1233T>C)
c.983T>C (p.Val328Ala)
c.1319T>C (p.Val440Ala)
c.1499T>C (p.Val500Ala)
c.1166T>C (p.Val389Ala)
n.221+1253A>G
7g.117559480T>GCA368984323CFTR,CFTR-AS1c.1409T>G (p.Val470Gly)
c.*1123T>G (n.*1123T>G)
c.1226T>G (p.Val409Gly)
c.1404T>G (p.Gly468=)
c.*1233T>G (n.*1233T>G)
c.983T>G (p.Val328Gly)
c.1319T>G (p.Val440Gly)
c.1499T>G (p.Val500Gly)
c.1166T>G (p.Val389Gly)
n.221+1253A>C
7g.117559480T=CA1737384123CFTR,CFTR-AS1c.1409T= (p.Val470=)
c.*1123T= (n.*1123T=)
c.1226T= (p.Val409=)
c.1404T= (p.Gly468=)
c.*1233T= (n.*1233T=)
c.983T= (p.Val328=)
c.1319T= (p.Val440=)
c.1499T= (p.Val500=)
c.1166T= (p.Val389=)
n.221+1253A=
7g.117559481delCA2695208317CFTR,CFTR-AS1c.1410del (p.Ile471LeufsTer?)
c.*1124del (n.*1124del)
c.1227del (p.Ile410LeufsTer?)
c.1405del (p.Asp469IlefsTer?)
c.*1234del (n.*1234del)
c.984del (p.Ile329LeufsTer?)
c.1320del (p.Ile441LeufsTer?)
c.1500del (p.Ile501LeufsTer?)
c.1167del (p.Ile390LeufsTer?)
n.221+1252del
7g.117559481G>ACA457228748CFTR,CFTR-AS1c.1410G>A (p.Val470=)
c.*1124G>A (n.*1124G>A)
c.1227G>A (p.Val409=)
c.1405G>A (p.Asp469Asn)
c.*1234G>A (n.*1234G>A)
c.984G>A (p.Val328=)
c.1320G>A (p.Val440=)
c.1500G>A (p.Val500=)
c.1167G>A (p.Val389=)
n.221+1252C>T
 COSMIC
7g.117559481G>CCA457228749CFTR,CFTR-AS1c.1410G>C (p.Val470=)
c.*1124G>C (n.*1124G>C)
c.1227G>C (p.Val409=)
c.1405G>C (p.Asp469His)
c.*1234G>C (n.*1234G>C)
c.984G>C (p.Val328=)
c.1320G>C (p.Val440=)
c.1500G>C (p.Val500=)
c.1167G>C (p.Val389=)
n.221+1252C>G
7g.117559481G>TCA457228750CFTR,CFTR-AS1c.1410G>T (p.Val470=)
c.*1124G>T (n.*1124G>T)
c.1227G>T (p.Val409=)
c.1405G>T (p.Asp469Tyr)
c.*1234G>T (n.*1234G>T)
c.984G>T (p.Val328=)
c.1320G>T (p.Val440=)
c.1500G>T (p.Val500=)
c.1167G>T (p.Val389=)
n.221+1252C>A
7g.117559482A=CA1737384127CFTR,CFTR-AS1c.1411A= (p.Ile471=)
c.*1125A= (n.*1125A=)
c.1228A= (p.Ile410=)
c.1406A= (p.Asp469=)
c.*1235A= (n.*1235A=)
c.985A= (p.Ile329=)
c.1321A= (p.Ile441=)
c.1501A= (p.Ile501=)
c.1168A= (p.Ile390=)
n.221+1251T=
7g.117559482A>CCA368984324CFTR,CFTR-AS1c.1411A>C (p.Ile471Leu)
c.*1125A>C (n.*1125A>C)
c.1228A>C (p.Ile410Leu)
c.1406A>C (p.Asp469Ala)
c.*1235A>C (n.*1235A>C)
c.985A>C (p.Ile329Leu)
c.1321A>C (p.Ile441Leu)
c.1501A>C (p.Ile501Leu)
c.1168A>C (p.Ile390Leu)
n.221+1251T>G
7g.117559482A>GCA368984325CFTR,CFTR-AS1c.1411A>G (p.Ile471Val)
c.*1125A>G (n.*1125A>G)
c.1228A>G (p.Ile410Val)
c.1406A>G (p.Asp469Gly)
c.*1235A>G (n.*1235A>G)
c.985A>G (p.Ile329Val)
c.1321A>G (p.Ile441Val)
c.1501A>G (p.Ile501Val)
c.1168A>G (p.Ile390Val)
n.221+1251T>C
 dbSNP gnomAD v2 gnomAD v4
7g.117559482A>TCA368984326CFTR,CFTR-AS1c.1411A>T (p.Ile471Phe)
c.*1125A>T (n.*1125A>T)
c.1228A>T (p.Ile410Phe)
c.1406A>T (p.Asp469Val)
c.*1235A>T (n.*1235A>T)
c.985A>T (p.Ile329Phe)
c.1321A>T (p.Ile441Phe)
c.1501A>T (p.Ile501Phe)
c.1168A>T (p.Ile390Phe)
n.221+1251T>A
 ClinVar gnomAD v4
7g.117559483T>ACA368984329CFTR,CFTR-AS1c.1412T>A (p.Ile471Asn)
c.*1126T>A (n.*1126T>A)
c.1229T>A (p.Ile410Asn)
c.1407T>A (p.Asp469Glu)
c.*1236T>A (n.*1236T>A)
c.986T>A (p.Ile329Asn)
c.1322T>A (p.Ile441Asn)
c.1502T>A (p.Ile501Asn)
c.1169T>A (p.Ile390Asn)
n.221+1250A>T
7g.117559483T>CCA368984328CFTR,CFTR-AS1c.1412T>C (p.Ile471Thr)
c.*1126T>C (n.*1126T>C)
c.1229T>C (p.Ile410Thr)
c.1407T>C (p.Asp469=)
c.*1236T>C (n.*1236T>C)
c.986T>C (p.Ile329Thr)
c.1322T>C (p.Ile441Thr)
c.1502T>C (p.Ile501Thr)
c.1169T>C (p.Ile390Thr)
n.221+1250A>G
7g.117559483T>GCA368984327CFTR,CFTR-AS1c.1412T>G (p.Ile471Ser)
c.*1126T>G (n.*1126T>G)
c.1229T>G (p.Ile410Ser)
c.1407T>G (p.Asp469Glu)
c.*1236T>G (n.*1236T>G)
c.986T>G (p.Ile329Ser)
c.1322T>G (p.Ile441Ser)
c.1502T>G (p.Ile501Ser)
c.1169T>G (p.Ile390Ser)
n.221+1250A>C
7g.117559484T>ACA457228752CFTR,CFTR-AS1c.1413T>A (p.Ile471=)
c.*1127T>A (n.*1127T>A)
c.1230T>A (p.Ile410=)
c.1408T>A (p.Tyr470Asn)
c.*1237T>A (n.*1237T>A)
c.987T>A (p.Ile329=)
c.1323T>A (p.Ile441=)
c.1503T>A (p.Ile501=)
c.1170T>A (p.Ile390=)
n.221+1249A>T
7g.117559484T>CCA457228751CFTR,CFTR-AS1c.1413T>C (p.Ile471=)
c.*1127T>C (n.*1127T>C)
c.1230T>C (p.Ile410=)
c.1408T>C (p.Tyr470His)
c.*1237T>C (n.*1237T>C)
c.987T>C (p.Ile329=)
c.1323T>C (p.Ile441=)
c.1503T>C (p.Ile501=)
c.1170T>C (p.Ile390=)
n.221+1249A>G
7g.117559484T>GCA368984330CFTR,CFTR-AS1c.1413T>G (p.Ile471Met)
c.*1127T>G (n.*1127T>G)
c.1230T>G (p.Ile410Met)
c.1408T>G (p.Tyr470Asp)
c.*1237T>G (n.*1237T>G)
c.987T>G (p.Ile329Met)
c.1323T>G (p.Ile441Met)
c.1503T>G (p.Ile501Met)
c.1170T>G (p.Ile390Met)
n.221+1249A>C
 COSMIC
7g.117559485A=CA1737384135CFTR,CFTR-AS1c.1414A= (p.Met472=)
c.*1128A= (n.*1128A=)
c.1231A= (p.Met411=)
c.1409A= (p.Tyr470=)
c.*1238A= (n.*1238A=)
c.988A= (p.Met330=)
c.1324A= (p.Met442=)
c.1504A= (p.Met502=)
c.1171A= (p.Met391=)
n.221+1248T=
7g.117559485A>CCA368984331CFTR,CFTR-AS1c.1414A>C (p.Met472Leu)
c.*1128A>C (n.*1128A>C)
c.1231A>C (p.Met411Leu)
c.1409A>C (p.Tyr470Ser)
c.*1238A>C (n.*1238A>C)
c.988A>C (p.Met330Leu)
c.1324A>C (p.Met442Leu)
c.1504A>C (p.Met502Leu)
c.1171A>C (p.Met391Leu)
n.221+1248T>G
7g.117559485A>GCA368984332CFTR,CFTR-AS1c.1414A>G (p.Met472Val)
c.*1128A>G (n.*1128A>G)
c.1231A>G (p.Met411Val)
c.1409A>G (p.Tyr470Cys)
c.*1238A>G (n.*1238A>G)
c.988A>G (p.Met330Val)
c.1324A>G (p.Met442Val)
c.1504A>G (p.Met502Val)
c.1171A>G (p.Met391Val)
n.221+1248T>C
 ClinVar dbSNP gnomAD v4
7g.117559485A>TCA368984333CFTR,CFTR-AS1c.1414A>T (p.Met472Leu)
c.*1128A>T (n.*1128A>T)
c.1231A>T (p.Met411Leu)
c.1409A>T (p.Tyr470Phe)
c.*1238A>T (n.*1238A>T)
c.988A>T (p.Met330Leu)
c.1324A>T (p.Met442Leu)
c.1504A>T (p.Met502Leu)
c.1171A>T (p.Met391Leu)
n.221+1248T>A
7g.117559485dupCA913111907CFTR,CFTR-AS1c.1414dup (p.Met472AsnfsTer10)
c.*1128dup (n.*1128dup)
c.1231dup (p.Met411AsnfsTer10)
c.1409dup (p.Tyr470Ter)
c.*1238dup (n.*1238dup)
c.988dup (p.Met330AsnfsTer10)
c.1324dup (p.Met442AsnfsTer10)
c.1504dup (p.Met502AsnfsTer10)
c.1171dup (p.Met391AsnfsTer10)
n.221+1248dup
7g.117559486T>ACA368984334CFTR,CFTR-AS1c.1415T>A (p.Met472Lys)
c.*1129T>A (n.*1129T>A)
c.1232T>A (p.Met411Lys)
c.1410T>A (p.Tyr470Ter)
c.*1239T>A (n.*1239T>A)
c.989T>A (p.Met330Lys)
c.1325T>A (p.Met442Lys)
c.1505T>A (p.Met502Lys)
c.1172T>A (p.Met391Lys)
n.221+1247A>T
7g.117559486T>CCA368984335CFTR,CFTR-AS1c.1415T>C (p.Met472Thr)
c.*1129T>C (n.*1129T>C)
c.1232T>C (p.Met411Thr)
c.1410T>C (p.Tyr470=)
c.*1239T>C (n.*1239T>C)
c.989T>C (p.Met330Thr)
c.1325T>C (p.Met442Thr)
c.1505T>C (p.Met502Thr)
c.1172T>C (p.Met391Thr)
n.221+1247A>G
7g.117559486T>GCA368984336CFTR,CFTR-AS1c.1415T>G (p.Met472Arg)
c.*1129T>G (n.*1129T>G)
c.1232T>G (p.Met411Arg)
c.1410T>G (p.Tyr470Ter)
c.*1239T>G (n.*1239T>G)
c.989T>G (p.Met330Arg)
c.1325T>G (p.Met442Arg)
c.1505T>G (p.Met502Arg)
c.1172T>G (p.Met391Arg)
n.221+1247A>C
7g.117559486dupCA658821280CFTR,CFTR-AS1c.1415dup (p.Met472IlefsTer10)
c.*1129dup (n.*1129dup)
c.1232dup (p.Met411IlefsTer10)
c.1410dup (p.Gly471TrpfsTer?)
c.*1239dup (n.*1239dup)
c.989dup (p.Met330IlefsTer10)
c.1325dup (p.Met442IlefsTer10)
c.1505dup (p.Met502IlefsTer10)
c.1172dup (p.Met391IlefsTer10)
n.221+1247dup
 ClinVar dbSNP gnomAD v4
7g.117559486_117559487delinsTGCA1737384147CFTR,CFTR-AS1c.1415_1416delinsTG (p.Met472=)
c.*1129_*1130delinsTG (n.*1129_*1130delinsTG)
c.1232_1233delinsTG (p.Met411=)
c.1410_1411delinsTG (p.Tyr470=)
c.*1239_*1240delinsTG (n.*1239_*1240delinsTG)
c.989_990delinsTG (p.Met330=)
c.1325_1326delinsTG (p.Met442=)
c.1505_1506delinsTG (p.Met502=)
c.1172_1173delinsTG (p.Met391=)
n.221+1246_221+1247delinsCA
7g.117559487G>ACA368984337CFTR,CFTR-AS1c.1416G>A (p.Met472Ile)
c.*1130G>A (n.*1130G>A)
c.1233G>A (p.Met411Ile)
c.1411G>A (p.Gly471Arg)
c.*1240G>A (n.*1240G>A)
c.990G>A (p.Met330Ile)
c.1326G>A (p.Met442Ile)
c.1506G>A (p.Met502Ile)
c.1173G>A (p.Met391Ile)
n.221+1246C>T
7g.117559487G>CCA368984338CFTR,CFTR-AS1c.1416G>C (p.Met472Ile)
c.*1130G>C (n.*1130G>C)
c.1233G>C (p.Met411Ile)
c.1411G>C (p.Gly471Arg)
c.*1240G>C (n.*1240G>C)
c.990G>C (p.Met330Ile)
c.1326G>C (p.Met442Ile)
c.1506G>C (p.Met502Ile)
c.1173G>C (p.Met391Ile)
n.221+1246C>G
7g.117559487G>TCA368984339CFTR,CFTR-AS1c.1416G>T (p.Met472Ile)
c.*1130G>T (n.*1130G>T)
c.1233G>T (p.Met411Ile)
c.1411G>T (p.Gly471Trp)
c.*1240G>T (n.*1240G>T)
c.990G>T (p.Met330Ile)
c.1326G>T (p.Met442Ile)
c.1506G>T (p.Met502Ile)
c.1173G>T (p.Met391Ile)
n.221+1246C>A
7g.117559489delCA326480CFTR,CFTR-AS1c.1418del (p.Gly473GlufsTer?)
c.*1132del (n.*1132del)
c.1235del (p.Gly412GlufsTer?)
c.1413del (p.Arg472GlufsTer?)
c.*1242del (n.*1242del)
c.992del (p.Gly331GlufsTer?)
c.1328del (p.Gly443GlufsTer?)
c.1508del (p.Gly503GlufsTer?)
c.1175del (p.Gly392GlufsTer?)
n.221+1246del
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117559488G>ACA368984340CFTR,CFTR-AS1c.1417G>A (p.Gly473Arg)
c.*1131G>A (n.*1131G>A)
c.1234G>A (p.Gly412Arg)
c.1412G>A (p.Gly471Glu)
c.*1241G>A (n.*1241G>A)
c.991G>A (p.Gly331Arg)
c.1327G>A (p.Gly443Arg)
c.1507G>A (p.Gly503Arg)
c.1174G>A (p.Gly392Arg)
n.221+1245C>T
 ClinVar dbSNP
7g.117559488G>CCA368984342CFTR,CFTR-AS1c.1417G>C (p.Gly473Arg)
c.*1131G>C (n.*1131G>C)
c.1234G>C (p.Gly412Arg)
c.1412G>C (p.Gly471Ala)
c.*1241G>C (n.*1241G>C)
c.991G>C (p.Gly331Arg)
c.1327G>C (p.Gly443Arg)
c.1507G>C (p.Gly503Arg)
c.1174G>C (p.Gly392Arg)
n.221+1245C>G
7g.117559488G=CA1737384160CFTR,CFTR-AS1c.1417G= (p.Gly473=)
c.*1131G= (n.*1131G=)
c.1234G= (p.Gly412=)
c.1412G= (p.Gly471=)
c.*1241G= (n.*1241G=)
c.991G= (p.Gly331=)
c.1327G= (p.Gly443=)
c.1507G= (p.Gly503=)
c.1174G= (p.Gly392=)
n.221+1245C=
7g.117559488G>TCA368984345CFTR,CFTR-AS1c.1417G>T (p.Gly473Ter)
c.*1131G>T (n.*1131G>T)
c.1234G>T (p.Gly412Ter)
c.1412G>T (p.Gly471Val)
c.*1241G>T (n.*1241G>T)
c.991G>T (p.Gly331Ter)
c.1327G>T (p.Gly443Ter)
c.1507G>T (p.Gly503Ter)
c.1174G>T (p.Gly392Ter)
n.221+1245C>A
 gnomAD v4
7g.117559489G>ACA368984346CFTR,CFTR-AS1c.1418G>A (p.Gly473Glu)
c.*1132G>A (n.*1132G>A)
c.1235G>A (p.Gly412Glu)
c.1413G>A (p.Gly471=)
c.*1242G>A (n.*1242G>A)
c.992G>A (p.Gly331Glu)
c.1328G>A (p.Gly443Glu)
c.1508G>A (p.Gly503Glu)
c.1175G>A (p.Gly392Glu)
n.221+1244C>T
 COSMIC
7g.117559489G>CCA368984349CFTR,CFTR-AS1c.1418G>C (p.Gly473Ala)
c.*1132G>C (n.*1132G>C)
c.1235G>C (p.Gly412Ala)
c.1413G>C (p.Gly471=)
c.*1242G>C (n.*1242G>C)
c.992G>C (p.Gly331Ala)
c.1328G>C (p.Gly443Ala)
c.1508G>C (p.Gly503Ala)
c.1175G>C (p.Gly392Ala)
n.221+1244C>G
7g.117559489G>TCA368984347CFTR,CFTR-AS1c.1418G>T (p.Gly473Val)
c.*1132G>T (n.*1132G>T)
c.1235G>T (p.Gly412Val)
c.1413G>T (p.Gly471=)
c.*1242G>T (n.*1242G>T)
c.992G>T (p.Gly331Val)
c.1328G>T (p.Gly443Val)
c.1508G>T (p.Gly503Val)
c.1175G>T (p.Gly392Val)
n.221+1244C>A
7g.117559490A>CCA457228754CFTR,CFTR-AS1c.1419A>C (p.Gly473=)
c.*1133A>C (n.*1133A>C)
c.1236A>C (p.Gly412=)
c.1414A>C (p.Arg472=)
c.*1243A>C (n.*1243A>C)
c.993A>C (p.Gly331=)
c.1329A>C (p.Gly443=)
c.1509A>C (p.Gly503=)
c.1176A>C (p.Gly392=)
n.221+1243T>G
7g.117559490A>GCA457228753CFTR,CFTR-AS1c.1419A>G (p.Gly473=)
c.*1133A>G (n.*1133A>G)
c.1236A>G (p.Gly412=)
c.1414A>G (p.Arg472Gly)
c.*1243A>G (n.*1243A>G)
c.993A>G (p.Gly331=)
c.1329A>G (p.Gly443=)
c.1509A>G (p.Gly503=)
c.1176A>G (p.Gly392=)
n.221+1243T>C
7g.117559490A>TCA457228755CFTR,CFTR-AS1c.1419A>T (p.Gly473=)
c.*1133A>T (n.*1133A>T)
c.1236A>T (p.Gly412=)
c.1414A>T (p.Arg472Ter)
c.*1243A>T (n.*1243A>T)
c.993A>T (p.Gly331=)
c.1329A>T (p.Gly443=)
c.1509A>T (p.Gly503=)
c.1176A>T (p.Gly392=)
n.221+1243T>A
7g.117559491G>ACA164967631CFTR,CFTR-AS1c.1420G>A (p.Glu474Lys)
c.*1134G>A (n.*1134G>A)
c.1237G>A (p.Glu413Lys)
c.1415G>A (p.Arg472Lys)
c.*1244G>A (n.*1244G>A)
c.994G>A (p.Glu332Lys)
c.1330G>A (p.Glu444Lys)
c.1510G>A (p.Glu504Lys)
c.1177G>A (p.Glu393Lys)
n.221+1242C>T
 ClinVar dbSNP gnomAD v4
7g.117559491G>CCA4451003CFTR,CFTR-AS1c.1420G>C (p.Glu474Gln)
c.*1134G>C (n.*1134G>C)
c.1237G>C (p.Glu413Gln)
c.1415G>C (p.Arg472Thr)
c.*1244G>C (n.*1244G>C)
c.994G>C (p.Glu332Gln)
c.1330G>C (p.Glu444Gln)
c.1510G>C (p.Glu504Gln)
c.1177G>C (p.Glu393Gln)
n.221+1242C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559491G=CA1737384170CFTR,CFTR-AS1c.1420G= (p.Glu474=)
c.*1134G= (n.*1134G=)
c.1237G= (p.Glu413=)
c.1415G= (p.Arg472=)
c.*1244G= (n.*1244G=)
c.994G= (p.Glu332=)
c.1330G= (p.Glu444=)
c.1510G= (p.Glu504=)
c.1177G= (p.Glu393=)
n.221+1242C=
7g.117559491G>TCA368984352CFTR,CFTR-AS1c.1420G>T (p.Glu474Ter)
c.*1134G>T (n.*1134G>T)
c.1237G>T (p.Glu413Ter)
c.1415G>T (p.Arg472Ile)
c.*1244G>T (n.*1244G>T)
c.994G>T (p.Glu332Ter)
c.1330G>T (p.Glu444Ter)
c.1510G>T (p.Glu504Ter)
c.1177G>T (p.Glu393Ter)
n.221+1242C>A
 ClinVar dbSNP
7g.117559492A=CA1737384180CFTR,CFTR-AS1c.1421A= (p.Glu474=)
c.*1135A= (n.*1135A=)
c.1238A= (p.Glu413=)
c.1416A= (p.Arg472=)
c.*1245A= (n.*1245A=)
c.995A= (p.Glu332=)
c.1331A= (p.Glu444=)
c.1511A= (p.Glu504=)
c.1178A= (p.Glu393=)
n.221+1241T=
7g.117559492A>CCA368984353CFTR,CFTR-AS1c.1421A>C (p.Glu474Ala)
c.*1135A>C (n.*1135A>C)
c.1238A>C (p.Glu413Ala)
c.1416A>C (p.Arg472Ser)
c.*1245A>C (n.*1245A>C)
c.995A>C (p.Glu332Ala)
c.1331A>C (p.Glu444Ala)
c.1511A>C (p.Glu504Ala)
c.1178A>C (p.Glu393Ala)
n.221+1241T>G
7g.117559492A>GCA368984355CFTR,CFTR-AS1c.1421A>G (p.Glu474Gly)
c.*1135A>G (n.*1135A>G)
c.1238A>G (p.Glu413Gly)
c.1416A>G (p.Arg472=)
c.*1245A>G (n.*1245A>G)
c.995A>G (p.Glu332Gly)
c.1331A>G (p.Glu444Gly)
c.1511A>G (p.Glu504Gly)
c.1178A>G (p.Glu393Gly)
n.221+1241T>C
 dbSNP gnomAD v3 gnomAD v4
7g.117559492A>TCA368984356CFTR,CFTR-AS1c.1421A>T (p.Glu474Val)
c.*1135A>T (n.*1135A>T)
c.1238A>T (p.Glu413Val)
c.1416A>T (p.Arg472Ser)
c.*1245A>T (n.*1245A>T)
c.995A>T (p.Glu332Val)
c.1331A>T (p.Glu444Val)
c.1511A>T (p.Glu504Val)
c.1178A>T (p.Glu393Val)
n.221+1241T>A
7g.117559493A=CA1737384185CFTR,CFTR-AS1c.1422A= (p.Glu474=)
c.*1136A= (n.*1136A=)
c.1239A= (p.Glu413=)
c.1417A= (p.Thr473=)
c.*1246A= (n.*1246A=)
c.996A= (p.Glu332=)
c.1332A= (p.Glu444=)
c.1512A= (p.Glu504=)
c.1179A= (p.Glu393=)
n.221+1240T=
7g.117559493A>CCA368984357CFTR,CFTR-AS1c.1422A>C (p.Glu474Asp)
c.*1136A>C (n.*1136A>C)
c.1239A>C (p.Glu413Asp)
c.1417A>C (p.Thr473Pro)
c.*1246A>C (n.*1246A>C)
c.996A>C (p.Glu332Asp)
c.1332A>C (p.Glu444Asp)
c.1512A>C (p.Glu504Asp)
c.1179A>C (p.Glu393Asp)
n.221+1240T>G
7g.117559493A>GCA457228756CFTR,CFTR-AS1c.1422A>G (p.Glu474=)
c.*1136A>G (n.*1136A>G)
c.1239A>G (p.Glu413=)
c.1417A>G (p.Thr473Ala)
c.*1246A>G (n.*1246A>G)
c.996A>G (p.Glu332=)
c.1332A>G (p.Glu444=)
c.1512A>G (p.Glu504=)
c.1179A>G (p.Glu393=)
n.221+1240T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117559493A>TCA368984358CFTR,CFTR-AS1c.1422A>T (p.Glu474Asp)
c.*1136A>T (n.*1136A>T)
c.1239A>T (p.Glu413Asp)
c.1417A>T (p.Thr473Ser)
c.*1246A>T (n.*1246A>T)
c.996A>T (p.Glu332Asp)
c.1332A>T (p.Glu444Asp)
c.1512A>T (p.Glu504Asp)
c.1179A>T (p.Glu393Asp)
n.221+1240T>A
7g.117559494delCA2695199618CFTR,CFTR-AS1c.1423del (p.Leu475TrpfsTer?)
c.*1137del (n.*1137del)
c.1240del (p.Leu414TrpfsTer?)
c.1418del (p.Thr473MetfsTer?)
c.*1247del (n.*1247del)
c.997del (p.Leu333TrpfsTer?)
c.1333del (p.Leu445TrpfsTer?)
c.1513del (p.Leu505TrpfsTer?)
c.1180del (p.Leu394TrpfsTer?)
n.221+1239del
 ClinVar
7g.117559494C>ACA368984360CFTR,CFTR-AS1c.1423C>A (p.Leu475Met)
c.*1137C>A (n.*1137C>A)
c.1240C>A (p.Leu414Met)
c.1418C>A (p.Thr473Asn)
c.*1247C>A (n.*1247C>A)
c.997C>A (p.Leu333Met)
c.1333C>A (p.Leu445Met)
c.1513C>A (p.Leu505Met)
c.1180C>A (p.Leu394Met)
n.221+1239G>T
 gnomAD v4
7g.117559494C>GCA368984362CFTR,CFTR-AS1c.1423C>G (p.Leu475Val)
c.*1137C>G (n.*1137C>G)
c.1240C>G (p.Leu414Val)
c.1418C>G (p.Thr473Ser)
c.*1247C>G (n.*1247C>G)
c.997C>G (p.Leu333Val)
c.1333C>G (p.Leu445Val)
c.1513C>G (p.Leu505Val)
c.1180C>G (p.Leu394Val)
n.221+1239G>C
 ClinVar
7g.117559494C>TCA457228757CFTR,CFTR-AS1c.1423C>T (p.Leu475=)
c.*1137C>T (n.*1137C>T)
c.1240C>T (p.Leu414=)
c.1418C>T (p.Thr473Ile)
c.*1247C>T (n.*1247C>T)
c.997C>T (p.Leu333=)
c.1333C>T (p.Leu445=)
c.1513C>T (p.Leu505=)
c.1180C>T (p.Leu394=)
n.221+1239G>A
 ClinVar
7g.117559495T>ACA368984365CFTR,CFTR-AS1c.1424T>A (p.Leu475Gln)
c.*1138T>A (n.*1138T>A)
c.1241T>A (p.Leu414Gln)
c.1419T>A (p.Thr473=)
c.*1248T>A (n.*1248T>A)
c.998T>A (p.Leu333Gln)
c.1334T>A (p.Leu445Gln)
c.1514T>A (p.Leu505Gln)
c.1181T>A (p.Leu394Gln)
n.221+1238A>T
7g.117559495T>CCA368984367CFTR,CFTR-AS1c.1424T>C (p.Leu475Pro)
c.*1138T>C (n.*1138T>C)
c.1241T>C (p.Leu414Pro)
c.1419T>C (p.Thr473=)
c.*1248T>C (n.*1248T>C)
c.998T>C (p.Leu333Pro)
c.1334T>C (p.Leu445Pro)
c.1514T>C (p.Leu505Pro)
c.1181T>C (p.Leu394Pro)
n.221+1238A>G
7g.117559495T>GCA368984364CFTR,CFTR-AS1c.1424T>G (p.Leu475Arg)
c.*1138T>G (n.*1138T>G)
c.1241T>G (p.Leu414Arg)
c.1419T>G (p.Thr473=)
c.*1248T>G (n.*1248T>G)
c.998T>G (p.Leu333Arg)
c.1334T>G (p.Leu445Arg)
c.1514T>G (p.Leu505Arg)
c.1181T>G (p.Leu394Arg)
n.221+1238A>C
7g.117559496G>ACA457228758CFTR,CFTR-AS1c.1425G>A (p.Leu475=)
c.*1139G>A (n.*1139G>A)
c.1242G>A (p.Leu414=)
c.1420G>A (p.Gly474Arg)
c.*1249G>A (n.*1249G>A)
c.999G>A (p.Leu333=)
c.1335G>A (p.Leu445=)
c.1515G>A (p.Leu505=)
c.1182G>A (p.Leu394=)
n.221+1237C>T
 COSMIC
7g.117559496G>CCA457228760CFTR,CFTR-AS1c.1425G>C (p.Leu475=)
c.*1139G>C (n.*1139G>C)
c.1242G>C (p.Leu414=)
c.1420G>C (p.Gly474Arg)
c.*1249G>C (n.*1249G>C)
c.999G>C (p.Leu333=)
c.1335G>C (p.Leu445=)
c.1515G>C (p.Leu505=)
c.1182G>C (p.Leu394=)
n.221+1237C>G
7g.117559496G=CA1737384188CFTR,CFTR-AS1c.1425G= (p.Leu475=)
c.*1139G= (n.*1139G=)
c.1242G= (p.Leu414=)
c.1420G= (p.Gly474=)
c.*1249G= (n.*1249G=)
c.999G= (p.Leu333=)
c.1335G= (p.Leu445=)
c.1515G= (p.Leu505=)
c.1182G= (p.Leu394=)
n.221+1237C=
7g.117559496G>TCA457228759CFTR,CFTR-AS1c.1425G>T (p.Leu475=)
c.*1139G>T (n.*1139G>T)
c.1242G>T (p.Leu414=)
c.1420G>T (p.Gly474Ter)
c.*1249G>T (n.*1249G>T)
c.999G>T (p.Leu333=)
c.1335G>T (p.Leu445=)
c.1515G>T (p.Leu505=)
c.1182G>T (p.Leu394=)
n.221+1237C>A
 dbSNP
7g.117559497G>ACA368984371CFTR,CFTR-AS1c.1426G>A (p.Glu476Lys)
c.*1140G>A (n.*1140G>A)
c.1243G>A (p.Glu415Lys)
c.1421G>A (p.Gly474Glu)
c.*1250G>A (n.*1250G>A)
c.1000G>A (p.Glu334Lys)
c.1336G>A (p.Glu446Lys)
c.1516G>A (p.Glu506Lys)
c.1183G>A (p.Glu395Lys)
n.221+1236C>T
7g.117559497G>CCA368984368CFTR,CFTR-AS1c.1426G>C (p.Glu476Gln)
c.*1140G>C (n.*1140G>C)
c.1243G>C (p.Glu415Gln)
c.1421G>C (p.Gly474Ala)
c.*1250G>C (n.*1250G>C)
c.1000G>C (p.Glu334Gln)
c.1336G>C (p.Glu446Gln)
c.1516G>C (p.Glu506Gln)
c.1183G>C (p.Glu395Gln)
n.221+1236C>G
7g.117559497G>TCA368984369CFTR,CFTR-AS1c.1426G>T (p.Glu476Ter)
c.*1140G>T (n.*1140G>T)
c.1243G>T (p.Glu415Ter)
c.1421G>T (p.Gly474Val)
c.*1250G>T (n.*1250G>T)
c.1000G>T (p.Glu334Ter)
c.1336G>T (p.Glu446Ter)
c.1516G>T (p.Glu506Ter)
c.1183G>T (p.Glu395Ter)
n.221+1236C>A
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.117559498A>CCA368984372CFTR,CFTR-AS1c.1427A>C (p.Glu476Ala)
c.*1141A>C (n.*1141A>C)
c.1244A>C (p.Glu415Ala)
c.1422A>C (p.Gly474=)
c.*1251A>C (n.*1251A>C)
c.1001A>C (p.Glu334Ala)
c.1337A>C (p.Glu446Ala)
c.1517A>C (p.Glu506Ala)
c.1184A>C (p.Glu395Ala)
n.221+1235T>G
7g.117559498A>GCA368984374CFTR,CFTR-AS1c.1427A>G (p.Glu476Gly)
c.*1141A>G (n.*1141A>G)
c.1244A>G (p.Glu415Gly)
c.1422A>G (p.Gly474=)
c.*1251A>G (n.*1251A>G)
c.1001A>G (p.Glu334Gly)
c.1337A>G (p.Glu446Gly)
c.1517A>G (p.Glu506Gly)
c.1184A>G (p.Glu395Gly)
n.221+1235T>C
7g.117559498A>TCA368984376CFTR,CFTR-AS1c.1427A>T (p.Glu476Val)
c.*1141A>T (n.*1141A>T)
c.1244A>T (p.Glu415Val)
c.1422A>T (p.Gly474=)
c.*1251A>T (n.*1251A>T)
c.1001A>T (p.Glu334Val)
c.1337A>T (p.Glu446Val)
c.1517A>T (p.Glu506Val)
c.1184A>T (p.Glu395Val)
n.221+1235T>A
7g.117559499G>ACA457228761CFTR,CFTR-AS1c.1428G>A (p.Glu476=)
c.*1142G>A (n.*1142G>A)
c.1245G>A (p.Glu415=)
c.1423G>A (p.Ala475Thr)
c.*1252G>A (n.*1252G>A)
c.1002G>A (p.Glu334=)
c.1338G>A (p.Glu446=)
c.1518G>A (p.Glu506=)
c.1185G>A (p.Glu395=)
n.221+1234C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.117559499G>CCA368984377CFTR,CFTR-AS1c.1428G>C (p.Glu476Asp)
c.*1142G>C (n.*1142G>C)
c.1245G>C (p.Glu415Asp)
c.1423G>C (p.Ala475Pro)
c.*1252G>C (n.*1252G>C)
c.1002G>C (p.Glu334Asp)
c.1338G>C (p.Glu446Asp)
c.1518G>C (p.Glu506Asp)
c.1185G>C (p.Glu395Asp)
n.221+1234C>G
7g.117559499G=CA1737384191CFTR,CFTR-AS1c.1428G= (p.Glu476=)
c.*1142G= (n.*1142G=)
c.1245G= (p.Glu415=)
c.1423G= (p.Ala475=)
c.*1252G= (n.*1252G=)
c.1002G= (p.Glu334=)
c.1338G= (p.Glu446=)
c.1518G= (p.Glu506=)
c.1185G= (p.Glu395=)
n.221+1234C=
7g.117559499G>TCA368984379CFTR,CFTR-AS1c.1428G>T (p.Glu476Asp)
c.*1142G>T (n.*1142G>T)
c.1245G>T (p.Glu415Asp)
c.1423G>T (p.Ala475Ser)
c.*1252G>T (n.*1252G>T)
c.1002G>T (p.Glu334Asp)
c.1338G>T (p.Glu446Asp)
c.1518G>T (p.Glu506Asp)
c.1185G>T (p.Glu395Asp)
n.221+1234C>A
7g.117559500C>ACA368984381CFTR,CFTR-AS1c.1429C>A (p.Pro477Thr)
c.*1143C>A (n.*1143C>A)
c.1246C>A (p.Pro416Thr)
c.1424C>A (p.Ala475Asp)
c.*1253C>A (n.*1253C>A)
c.1003C>A (p.Pro335Thr)
c.1339C>A (p.Pro447Thr)
c.1519C>A (p.Pro507Thr)
c.1186C>A (p.Pro396Thr)
n.221+1233G>T
 dbSNP gnomAD v2 gnomAD v4
7g.117559500C=CA1737384202CFTR,CFTR-AS1c.1429C= (p.Pro477=)
c.*1143C= (n.*1143C=)
c.1246C= (p.Pro416=)
c.1424C= (p.Ala475=)
c.*1253C= (n.*1253C=)
c.1003C= (p.Pro335=)
c.1339C= (p.Pro447=)
c.1519C= (p.Pro507=)
c.1186C= (p.Pro396=)
n.221+1233G=
7g.117559500C>GCA368984382CFTR,CFTR-AS1c.1429C>G (p.Pro477Ala)
c.*1143C>G (n.*1143C>G)
c.1246C>G (p.Pro416Ala)
c.1424C>G (p.Ala475Gly)
c.*1253C>G (n.*1253C>G)
c.1003C>G (p.Pro335Ala)
c.1339C>G (p.Pro447Ala)
c.1519C>G (p.Pro507Ala)
c.1186C>G (p.Pro396Ala)
n.221+1233G>C
 dbSNP gnomAD v4
7g.117559500C>TCA4451004CFTR,CFTR-AS1c.1429C>T (p.Pro477Ser)
c.*1143C>T (n.*1143C>T)
c.1246C>T (p.Pro416Ser)
c.1424C>T (p.Ala475Val)
c.*1253C>T (n.*1253C>T)
c.1003C>T (p.Pro335Ser)
c.1339C>T (p.Pro447Ser)
c.1519C>T (p.Pro507Ser)
c.1186C>T (p.Pro396Ser)
n.221+1233G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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
 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

Number of alleles fetched