Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559610_117559623delinsTGAATATAGATACACA1737384750CFTR,CFTR-AS1c.1539_1552delinsTGAATATAGATACA (p.Asp513=)
c.*1253_*1266delinsTGAATATAGATACA (n.*1253_*1266delinsTGAATATAGATACA)
c.1356_1369delinsTGAATATAGATACA (p.Asp452=)
c.*97_*110delinsTGAATATAGATACA (n.*97_*110delinsTGAATATAGATACA)
c.*1363_*1376delinsTGAATATAGATACA (n.*1363_*1376delinsTGAATATAGATACA)
c.1113_1126delinsTGAATATAGATACA (p.Asp371=)
c.1449_1462delinsTGAATATAGATACA (p.Asp483=)
c.1629_1642delinsTGAATATAGATACA (p.Asp543=)
c.1296_1309delinsTGAATATAGATACA (p.Asp432=)
n.221+1110_221+1123delinsTGTATCTATATTCA
7g.117559614_117559626delCA577218121CFTR,CFTR-AS1c.1543_1555del (p.Tyr515AlafsTer8)
c.*1257_*1269del (n.*1257_*1269del)
c.1360_1372del (p.Tyr454AlafsTer8)
c.*101_*113del (n.*101_*113del)
c.*1367_*1379del (n.*1367_*1379del)
c.1117_1129del (p.Tyr373AlafsTer8)
c.1453_1465del (p.Tyr485AlafsTer8)
c.1633_1645del (p.Tyr545AlafsTer8)
c.1300_1312del (p.Tyr434AlafsTer8)
n.221+1110_221+1122del
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117559612_117559614delinsAATCA1737384767CFTR,CFTR-AS1c.1541_1543delinsAAT (p.Glu514=)
c.*1255_*1257delinsAAT (n.*1255_*1257delinsAAT)
c.1358_1360delinsAAT (p.Glu453=)
c.*99_*101delinsAAT (n.*99_*101delinsAAT)
c.*1365_*1367delinsAAT (n.*1365_*1367delinsAAT)
c.1115_1117delinsAAT (p.Glu372=)
c.1451_1453delinsAAT (p.Glu484=)
c.1631_1633delinsAAT (p.Glu544=)
c.1298_1300delinsAAT (p.Glu433=)
n.221+1119_221+1121delinsATT
7g.117559613A=CA1737384779CFTR,CFTR-AS1c.1542A= (p.Glu514=)
c.*1256A= (n.*1256A=)
c.1359A= (p.Glu453=)
c.*100A= (n.*100A=)
c.*1366A= (n.*1366A=)
c.1116A= (p.Glu372=)
c.1452A= (p.Glu484=)
c.1632A= (p.Glu544=)
c.1299A= (p.Glu433=)
n.221+1120T=
7g.117559613A>CCA164967800CFTR,CFTR-AS1c.1542A>C (p.Glu514Asp)
c.*1256A>C (n.*1256A>C)
c.1359A>C (p.Glu453Asp)
c.*100A>C (n.*100A>C)
c.*1366A>C (n.*1366A>C)
c.1116A>C (p.Glu372Asp)
c.1452A>C (p.Glu484Asp)
c.1632A>C (p.Glu544Asp)
c.1299A>C (p.Glu433Asp)
n.221+1120T>G
 ClinVar dbSNP gnomAD v4
7g.117559613A>GCA457228881CFTR,CFTR-AS1c.1542A>G (p.Glu514=)
c.*1256A>G (n.*1256A>G)
c.1359A>G (p.Glu453=)
c.*100A>G (n.*100A>G)
c.*1366A>G (n.*1366A>G)
c.1116A>G (p.Glu372=)
c.1452A>G (p.Glu484=)
c.1632A>G (p.Glu544=)
c.1299A>G (p.Glu433=)
n.221+1120T>C
 gnomAD v4
7g.117559613A>TCA368984820CFTR,CFTR-AS1c.1542A>T (p.Glu514Asp)
c.*1256A>T (n.*1256A>T)
c.1359A>T (p.Glu453Asp)
c.*100A>T (n.*100A>T)
c.*1366A>T (n.*1366A>T)
c.1116A>T (p.Glu372Asp)
c.1452A>T (p.Glu484Asp)
c.1632A>T (p.Glu544Asp)
c.1299A>T (p.Glu433Asp)
n.221+1120T>A
7g.117559616_117559617delCA325535CFTR,CFTR-AS1c.1545_1546del (p.Tyr515Ter)
c.*1259_*1260del (n.*1259_*1260del)
c.1362_1363del (p.Tyr454Ter)
c.*103_*104del (n.*103_*104del)
c.*1369_*1370del (n.*1369_*1370del)
c.1119_1120del (p.Tyr373Ter)
c.1455_1456del (p.Tyr485Ter)
c.1635_1636del (p.Tyr545Ter)
c.1302_1303del (p.Tyr434Ter)
n.221+1119_221+1120del
 dbSNP gnomAD v4
7g.117559614T>ACA368984826CFTR,CFTR-AS1c.1543T>A (p.Tyr515Asn)
c.*1257T>A (n.*1257T>A)
c.1360T>A (p.Tyr454Asn)
c.*101T>A (n.*101T>A)
c.*1367T>A (n.*1367T>A)
c.1117T>A (p.Tyr373Asn)
c.1453T>A (p.Tyr485Asn)
c.1633T>A (p.Tyr545Asn)
c.1300T>A (p.Tyr434Asn)
n.221+1119A>T
7g.117559614T>CCA4451019CFTR,CFTR-AS1c.1543T>C (p.Tyr515His)
c.*1257T>C (n.*1257T>C)
c.1360T>C (p.Tyr454His)
c.*101T>C (n.*101T>C)
c.*1367T>C (n.*1367T>C)
c.1117T>C (p.Tyr373His)
c.1453T>C (p.Tyr485His)
c.1633T>C (p.Tyr545His)
c.1300T>C (p.Tyr434His)
n.221+1119A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559614T>GCA368984829CFTR,CFTR-AS1c.1543T>G (p.Tyr515Asp)
c.*1257T>G (n.*1257T>G)
c.1360T>G (p.Tyr454Asp)
c.*101T>G (n.*101T>G)
c.*1367T>G (n.*1367T>G)
c.1117T>G (p.Tyr373Asp)
c.1453T>G (p.Tyr485Asp)
c.1633T>G (p.Tyr545Asp)
c.1300T>G (p.Tyr434Asp)
n.221+1119A>C
 ClinVar
7g.117559614T=CA1737384784CFTR,CFTR-AS1c.1543T= (p.Tyr515=)
c.*1257T= (n.*1257T=)
c.1360T= (p.Tyr454=)
c.*101T= (n.*101T=)
c.*1367T= (n.*1367T=)
c.1117T= (p.Tyr373=)
c.1453T= (p.Tyr485=)
c.1633T= (p.Tyr545=)
c.1300T= (p.Tyr434=)
n.221+1119A=
7g.117559615A=CA1737384789CFTR,CFTR-AS1c.1544A= (p.Tyr515=)
c.*1258A= (n.*1258A=)
c.1361A= (p.Tyr454=)
c.*102A= (n.*102A=)
c.*1368A= (n.*1368A=)
c.1118A= (p.Tyr373=)
c.1454A= (p.Tyr485=)
c.1634A= (p.Tyr545=)
c.1301A= (p.Tyr434=)
n.221+1118T=
7g.117559615A>CCA368984831CFTR,CFTR-AS1c.1544A>C (p.Tyr515Ser)
c.*1258A>C (n.*1258A>C)
c.1361A>C (p.Tyr454Ser)
c.*102A>C (n.*102A>C)
c.*1368A>C (n.*1368A>C)
c.1118A>C (p.Tyr373Ser)
c.1454A>C (p.Tyr485Ser)
c.1634A>C (p.Tyr545Ser)
c.1301A>C (p.Tyr434Ser)
n.221+1118T>G
7g.117559615A>GCA368984834CFTR,CFTR-AS1c.1544A>G (p.Tyr515Cys)
c.*1258A>G (n.*1258A>G)
c.1361A>G (p.Tyr454Cys)
c.*102A>G (n.*102A>G)
c.*1368A>G (n.*1368A>G)
c.1118A>G (p.Tyr373Cys)
c.1454A>G (p.Tyr485Cys)
c.1634A>G (p.Tyr545Cys)
c.1301A>G (p.Tyr434Cys)
n.221+1118T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117559615A>TCA368984837CFTR,CFTR-AS1c.1544A>T (p.Tyr515Phe)
c.*1258A>T (n.*1258A>T)
c.1361A>T (p.Tyr454Phe)
c.*102A>T (n.*102A>T)
c.*1368A>T (n.*1368A>T)
c.1118A>T (p.Tyr373Phe)
c.1454A>T (p.Tyr485Phe)
c.1634A>T (p.Tyr545Phe)
c.1301A>T (p.Tyr434Phe)
n.221+1118T>A
7g.117559618_117559621delCA2580076322CFTR,CFTR-AS1c.1547_1550del (p.Arg516ThrfsTer10)
c.*1261_*1264del (n.*1261_*1264del)
c.1364_1367del (p.Arg455ThrfsTer10)
c.*105_*108del (n.*105_*108del)
c.*1371_*1374del (n.*1371_*1374del)
c.1121_1124del (p.Arg374ThrfsTer10)
c.1457_1460del (p.Arg486ThrfsTer10)
c.1637_1640del (p.Arg546ThrfsTer10)
c.1304_1307del (p.Arg435ThrfsTer10)
n.221+1115_221+1118del
 ClinVar
7g.117559616T>ACA368984844CFTR,CFTR-AS1c.1545T>A (p.Tyr515Ter)
c.*1259T>A (n.*1259T>A)
c.1362T>A (p.Tyr454Ter)
c.*103T>A (n.*103T>A)
c.*1369T>A (n.*1369T>A)
c.1119T>A (p.Tyr373Ter)
c.1455T>A (p.Tyr485Ter)
c.1635T>A (p.Tyr545Ter)
c.1302T>A (p.Tyr434Ter)
n.221+1117A>T
7g.117559616T>CCA4451020CFTR,CFTR-AS1c.1545T>C (p.Tyr515=)
c.*1259T>C (n.*1259T>C)
c.1362T>C (p.Tyr454=)
c.*103T>C (n.*103T>C)
c.*1369T>C (n.*1369T>C)
c.1119T>C (p.Tyr373=)
c.1455T>C (p.Tyr485=)
c.1635T>C (p.Tyr545=)
c.1302T>C (p.Tyr434=)
n.221+1117A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559616T>GCA368984841CFTR,CFTR-AS1c.1545T>G (p.Tyr515Ter)
c.*1259T>G (n.*1259T>G)
c.1362T>G (p.Tyr454Ter)
c.*103T>G (n.*103T>G)
c.*1369T>G (n.*1369T>G)
c.1119T>G (p.Tyr373Ter)
c.1455T>G (p.Tyr485Ter)
c.1635T>G (p.Tyr545Ter)
c.1302T>G (p.Tyr434Ter)
n.221+1117A>C
7g.117559616T=CA1737384797CFTR,CFTR-AS1c.1545T= (p.Tyr515=)
c.*1259T= (n.*1259T=)
c.1362T= (p.Tyr454=)
c.*103T= (n.*103T=)
c.*1369T= (n.*1369T=)
c.1119T= (p.Tyr373=)
c.1455T= (p.Tyr485=)
c.1635T= (p.Tyr545=)
c.1302T= (p.Tyr434=)
n.221+1117A=
7g.117559616_117559619delinsTAGACA1737384801CFTR,CFTR-AS1c.1545_1548delinsTAGA (p.Tyr515=)
c.*1259_*1262delinsTAGA (n.*1259_*1262delinsTAGA)
c.1362_1365delinsTAGA (p.Tyr454=)
c.*103_*106delinsTAGA (n.*103_*106delinsTAGA)
c.*1369_*1372delinsTAGA (n.*1369_*1372delinsTAGA)
c.1119_1122delinsTAGA (p.Tyr373=)
c.1455_1458delinsTAGA (p.Tyr485=)
c.1635_1638delinsTAGA (p.Tyr545=)
c.1302_1305delinsTAGA (p.Tyr434=)
n.221+1114_221+1117delinsTCTA
7g.117559617A=CA1737384814CFTR,CFTR-AS1c.1546A= (p.Arg516=)
c.*1260A= (n.*1260A=)
c.1363A= (p.Arg455=)
c.*104A= (n.*104A=)
c.*1370A= (n.*1370A=)
c.1120A= (p.Arg374=)
c.1456A= (p.Arg486=)
c.1636A= (p.Arg546=)
c.1303A= (p.Arg435=)
n.221+1116T=
7g.117559617A>CCA457228882CFTR,CFTR-AS1c.1546A>C (p.Arg516=)
c.*1260A>C (n.*1260A>C)
c.1363A>C (p.Arg455=)
c.*104A>C (n.*104A>C)
c.*1370A>C (n.*1370A>C)
c.1120A>C (p.Arg374=)
c.1456A>C (p.Arg486=)
c.1636A>C (p.Arg546=)
c.1303A>C (p.Arg435=)
n.221+1116T>G
7g.117559617A>GCA326530CFTR,CFTR-AS1c.1546A>G (p.Arg516Gly)
c.*1260A>G (n.*1260A>G)
c.1363A>G (p.Arg455Gly)
c.*104A>G (n.*104A>G)
c.*1370A>G (n.*1370A>G)
c.1120A>G (p.Arg374Gly)
c.1456A>G (p.Arg486Gly)
c.1636A>G (p.Arg546Gly)
c.1303A>G (p.Arg435Gly)
n.221+1116T>C
 ClinVar dbSNP
7g.117559617A>TCA368984847CFTR,CFTR-AS1c.1546A>T (p.Arg516Ter)
c.*1260A>T (n.*1260A>T)
c.1363A>T (p.Arg455Ter)
c.*104A>T (n.*104A>T)
c.*1370A>T (n.*1370A>T)
c.1120A>T (p.Arg374Ter)
c.1456A>T (p.Arg486Ter)
c.1636A>T (p.Arg546Ter)
c.1303A>T (p.Arg435Ter)
n.221+1116T>A
7g.117559617_117559619delinsTCA1139660108CFTR,CFTR-AS1c.1546_1548delinsT (p.Arg516LeufsTer?)
c.*1260_*1262delinsT (n.*1260_*1262delinsT)
c.1363_1365delinsT (p.Arg455LeufsTer?)
c.*104_*106delinsT (n.*104_*106delinsT)
c.*1370_*1372delinsT (n.*1370_*1372delinsT)
c.1120_1122delinsT (p.Arg374LeufsTer?)
c.1456_1458delinsT (p.Arg486LeufsTer?)
c.1636_1638delinsT (p.Arg546LeufsTer?)
c.1303_1305delinsT (p.Arg435LeufsTer?)
n.221+1114_221+1116delinsA
 ClinVar dbSNP
7g.117559618_117559619delCA913190001CFTR,CFTR-AS1c.1547_1548del (p.Arg516IlefsTer?)
c.*1261_*1262del (n.*1261_*1262del)
c.1364_1365del (p.Arg455IlefsTer?)
c.*105_*106del (n.*105_*106del)
c.*1371_*1372del (n.*1371_*1372del)
c.1121_1122del (p.Arg374IlefsTer?)
c.1457_1458del (p.Arg486IlefsTer?)
c.1637_1638del (p.Arg546IlefsTer?)
c.1304_1305del (p.Arg435IlefsTer?)
n.221+1115_221+1116del
 ClinVar dbSNP
7g.117559618G>ACA368984849CFTR,CFTR-AS1c.1547G>A (p.Arg516Lys)
c.*1261G>A (n.*1261G>A)
c.1364G>A (p.Arg455Lys)
c.*105G>A (n.*105G>A)
c.*1371G>A (n.*1371G>A)
c.1121G>A (p.Arg374Lys)
c.1457G>A (p.Arg486Lys)
c.1637G>A (p.Arg546Lys)
c.1304G>A (p.Arg435Lys)
n.221+1115C>T
7g.117559618G>CCA368984850CFTR,CFTR-AS1c.1547G>C (p.Arg516Thr)
c.*1261G>C (n.*1261G>C)
c.1364G>C (p.Arg455Thr)
c.*105G>C (n.*105G>C)
c.*1371G>C (n.*1371G>C)
c.1121G>C (p.Arg374Thr)
c.1457G>C (p.Arg486Thr)
c.1637G>C (p.Arg546Thr)
c.1304G>C (p.Arg435Thr)
n.221+1115C>G
7g.117559618G>TCA368984852CFTR,CFTR-AS1c.1547G>T (p.Arg516Ile)
c.*1261G>T (n.*1261G>T)
c.1364G>T (p.Arg455Ile)
c.*105G>T (n.*105G>T)
c.*1371G>T (n.*1371G>T)
c.1121G>T (p.Arg374Ile)
c.1457G>T (p.Arg486Ile)
c.1637G>T (p.Arg546Ile)
c.1304G>T (p.Arg435Ile)
n.221+1115C>A
 ClinVar
7g.117559619A>CCA368984854CFTR,CFTR-AS1c.1548A>C (p.Arg516Ser)
c.*1262A>C (n.*1262A>C)
c.1365A>C (p.Arg455Ser)
c.*106A>C (n.*106A>C)
c.*1372A>C (n.*1372A>C)
c.1122A>C (p.Arg374Ser)
c.1458A>C (p.Arg486Ser)
c.1638A>C (p.Arg546Ser)
c.1305A>C (p.Arg435Ser)
n.221+1114T>G
 gnomAD v4
7g.117559619A>GCA457228883CFTR,CFTR-AS1c.1548A>G (p.Arg516=)
c.*1262A>G (n.*1262A>G)
c.1365A>G (p.Arg455=)
c.*106A>G (n.*106A>G)
c.*1372A>G (n.*1372A>G)
c.1122A>G (p.Arg374=)
c.1458A>G (p.Arg486=)
c.1638A>G (p.Arg546=)
c.1305A>G (p.Arg435=)
n.221+1114T>C
7g.117559619A>TCA368984855CFTR,CFTR-AS1c.1548A>T (p.Arg516Ser)
c.*1262A>T (n.*1262A>T)
c.1365A>T (p.Arg455Ser)
c.*106A>T (n.*106A>T)
c.*1372A>T (n.*1372A>T)
c.1122A>T (p.Arg374Ser)
c.1458A>T (p.Arg486Ser)
c.1638A>T (p.Arg546Ser)
c.1305A>T (p.Arg435Ser)
n.221+1114T>A
7g.117559620T>ACA368984858CFTR,CFTR-AS1c.1549T>A (p.Tyr517Asn)
c.*1263T>A (n.*1263T>A)
c.1366T>A (p.Tyr456Asn)
c.*107T>A (n.*107T>A)
c.*1373T>A (n.*1373T>A)
c.1123T>A (p.Tyr375Asn)
c.1459T>A (p.Tyr487Asn)
c.1639T>A (p.Tyr547Asn)
c.1306T>A (p.Tyr436Asn)
n.221+1113A>T
7g.117559620T>CCA368984860CFTR,CFTR-AS1c.1549T>C (p.Tyr517His)
c.*1263T>C (n.*1263T>C)
c.1366T>C (p.Tyr456His)
c.*107T>C (n.*107T>C)
c.*1373T>C (n.*1373T>C)
c.1123T>C (p.Tyr375His)
c.1459T>C (p.Tyr487His)
c.1639T>C (p.Tyr547His)
c.1306T>C (p.Tyr436His)
n.221+1113A>G
7g.117559620T>GCA368984863CFTR,CFTR-AS1c.1549T>G (p.Tyr517Asp)
c.*1263T>G (n.*1263T>G)
c.1366T>G (p.Tyr456Asp)
c.*107T>G (n.*107T>G)
c.*1373T>G (n.*1373T>G)
c.1123T>G (p.Tyr375Asp)
c.1459T>G (p.Tyr487Asp)
c.1639T>G (p.Tyr547Asp)
c.1306T>G (p.Tyr436Asp)
n.221+1113A>C
7g.117559621A=CA1737384820CFTR,CFTR-AS1c.1550A= (p.Tyr517=)
c.*1264A= (n.*1264A=)
c.1367A= (p.Tyr456=)
c.*108A= (n.*108A=)
c.*1374A= (n.*1374A=)
c.1124A= (p.Tyr375=)
c.1460A= (p.Tyr487=)
c.1640A= (p.Tyr547=)
c.1307A= (p.Tyr436=)
n.221+1112T=
7g.117559621A>CCA368984865CFTR,CFTR-AS1c.1550A>C (p.Tyr517Ser)
c.*1264A>C (n.*1264A>C)
c.1367A>C (p.Tyr456Ser)
c.*108A>C (n.*108A>C)
c.*1374A>C (n.*1374A>C)
c.1124A>C (p.Tyr375Ser)
c.1460A>C (p.Tyr487Ser)
c.1640A>C (p.Tyr547Ser)
c.1307A>C (p.Tyr436Ser)
n.221+1112T>G
 ClinVar
7g.117559621A>GCA368984867CFTR,CFTR-AS1c.1550A>G (p.Tyr517Cys)
c.*1264A>G (n.*1264A>G)
c.1367A>G (p.Tyr456Cys)
c.*108A>G (n.*108A>G)
c.*1374A>G (n.*1374A>G)
c.1124A>G (p.Tyr375Cys)
c.1460A>G (p.Tyr487Cys)
c.1640A>G (p.Tyr547Cys)
c.1307A>G (p.Tyr436Cys)
n.221+1112T>C
 ClinVar dbSNP
7g.117559621A>TCA368984869CFTR,CFTR-AS1c.1550A>T (p.Tyr517Phe)
c.*1264A>T (n.*1264A>T)
c.1367A>T (p.Tyr456Phe)
c.*108A>T (n.*108A>T)
c.*1374A>T (n.*1374A>T)
c.1124A>T (p.Tyr375Phe)
c.1460A>T (p.Tyr487Phe)
c.1640A>T (p.Tyr547Phe)
c.1307A>T (p.Tyr436Phe)
n.221+1112T>A
7g.117559622C>ACA368984871CFTR,CFTR-AS1c.1551C>A (p.Tyr517Ter)
c.*1265C>A (n.*1265C>A)
c.1368C>A (p.Tyr456Ter)
c.*109C>A (n.*109C>A)
c.*1375C>A (n.*1375C>A)
c.1125C>A (p.Tyr375Ter)
c.1461C>A (p.Tyr487Ter)
c.1641C>A (p.Tyr547Ter)
c.1308C>A (p.Tyr436Ter)
n.221+1111G>T
7g.117559622C>GCA368984878CFTR,CFTR-AS1c.1551C>G (p.Tyr517Ter)
c.*1265C>G (n.*1265C>G)
c.1368C>G (p.Tyr456Ter)
c.*109C>G (n.*109C>G)
c.*1375C>G (n.*1375C>G)
c.1125C>G (p.Tyr375Ter)
c.1461C>G (p.Tyr487Ter)
c.1641C>G (p.Tyr547Ter)
c.1308C>G (p.Tyr436Ter)
n.221+1111G>C
 ClinVar dbSNP
7g.117559622C>TCA457228884CFTR,CFTR-AS1c.1551C>T (p.Tyr517=)
c.*1265C>T (n.*1265C>T)
c.1368C>T (p.Tyr456=)
c.*109C>T (n.*109C>T)
c.*1375C>T (n.*1375C>T)
c.1125C>T (p.Tyr375=)
c.1461C>T (p.Tyr487=)
c.1641C>T (p.Tyr547=)
c.1308C>T (p.Tyr436=)
n.221+1111G>A
 ClinVar
7g.117559623A=CA1737384829CFTR,CFTR-AS1c.1552A= (p.Arg518=)
c.*1266A= (n.*1266A=)
c.1369A= (p.Arg457=)
c.*110A= (n.*110A=)
c.*1376A= (n.*1376A=)
c.1126A= (p.Arg376=)
c.1462A= (p.Arg488=)
c.1642A= (p.Arg548=)
c.1309A= (p.Arg437=)
n.221+1110T=
7g.117559623A>CCA457228886CFTR,CFTR-AS1c.1552A>C (p.Arg518=)
c.*1266A>C (n.*1266A>C)
c.1369A>C (p.Arg457=)
c.*110A>C (n.*110A>C)
c.*1376A>C (n.*1376A>C)
c.1126A>C (p.Arg376=)
c.1462A>C (p.Arg488=)
c.1642A>C (p.Arg548=)
c.1309A>C (p.Arg437=)
n.221+1110T>G
7g.117559623A>GCA368984882CFTR,CFTR-AS1c.1552A>G (p.Arg518Gly)
c.*1266A>G (n.*1266A>G)
c.1369A>G (p.Arg457Gly)
c.*110A>G (n.*110A>G)
c.*1376A>G (n.*1376A>G)
c.1126A>G (p.Arg376Gly)
c.1462A>G (p.Arg488Gly)
c.1642A>G (p.Arg548Gly)
c.1309A>G (p.Arg437Gly)
n.221+1110T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117559623A>TCA368984884CFTR,CFTR-AS1c.1552A>T (p.Arg518Ter)
c.*1266A>T (n.*1266A>T)
c.1369A>T (p.Arg457Ter)
c.*110A>T (n.*110A>T)
c.*1376A>T (n.*1376A>T)
c.1126A>T (p.Arg376Ter)
c.1462A>T (p.Arg488Ter)
c.1642A>T (p.Arg548Ter)
c.1309A>T (p.Arg437Ter)
n.221+1110T>A
7g.117559624G>ACA368984886CFTR,CFTR-AS1c.1553G>A (p.Arg518Lys)
c.*1267G>A (n.*1267G>A)
c.1370G>A (p.Arg457Lys)
c.*111G>A (n.*111G>A)
c.*1377G>A (n.*1377G>A)
c.1127G>A (p.Arg376Lys)
c.1463G>A (p.Arg488Lys)
c.1643G>A (p.Arg548Lys)
c.1310G>A (p.Arg437Lys)
n.221+1109C>T
7g.117559624G>CCA368984890CFTR,CFTR-AS1c.1553G>C (p.Arg518Thr)
c.*1267G>C (n.*1267G>C)
c.1370G>C (p.Arg457Thr)
c.*111G>C (n.*111G>C)
c.*1377G>C (n.*1377G>C)
c.1127G>C (p.Arg376Thr)
c.1463G>C (p.Arg488Thr)
c.1643G>C (p.Arg548Thr)
c.1310G>C (p.Arg437Thr)
n.221+1109C>G

Number of alleles fetched