Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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

Number of alleles fetched