Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117559477_117559487delinsTGGTGATTATG | CA1737384101 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559480_117559489del | CA326479 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559482A= | CA1737384127 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559482A>C | CA368984324 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559482A>G | CA368984325 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559482A>T | CA368984326 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559483T>A | CA368984329 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559483T>C | CA368984328 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559483T>G | CA368984327 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559484T>A | CA457228752 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559484T>C | CA457228751 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559484T>G | CA368984330 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559485A= | CA1737384135 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559485A>C | CA368984331 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559485A>G | CA368984332 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559485A>T | CA368984333 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559485dup | CA913111907 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559486T>A | CA368984334 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559486T>C | CA368984335 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559486T>G | CA368984336 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559486dup | CA658821280 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559486_117559487delinsTG | CA1737384147 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559487G>A | CA368984337 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559487G>C | CA368984338 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559487G>T | CA368984339 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559489del | CA326480 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559488G>A | CA368984340 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559488G>C | CA368984342 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559488G= | CA1737384160 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559488G>T | CA368984345 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559489G>A | CA368984346 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559489G>C | CA368984349 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559489G>T | CA368984347 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559490A>C | CA457228754 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559490A>G | CA457228753 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559490A>T | CA457228755 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559491G>A | CA164967631 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559491G>C | CA4451003 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559491G= | CA1737384170 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559491G>T | CA368984352 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559492A= | CA1737384180 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559492A>C | CA368984353 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559492A>G | CA368984355 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559492A>T | CA368984356 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559493A= | CA1737384185 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559493A>C | CA368984357 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559493A>G | CA457228756 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559493A>T | CA368984358 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559494del | CA2695199618 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559494C>A | CA368984360 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559494C>G | CA368984362 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559494C>T | CA457228757 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559495T>A | CA368984365 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559495T>C | CA368984367 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559495T>G | CA368984364 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559496G>A | CA457228758 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559496G>C | CA457228760 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559496G= | CA1737384188 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559496G>T | CA457228759 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559497G>A | CA368984371 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559497G>C | CA368984368 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559497G>T | CA368984369 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559500_117559508del | CA2695208318 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559498A>C | CA368984372 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559498A>G | CA368984374 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559498A>T | CA368984376 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559499G>A | CA457228761 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559499G>C | CA368984377 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559499G= | CA1737384191 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559499G>T | CA368984379 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559500C>A | CA368984381 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559500C= | CA1737384202 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559500C>G | CA368984382 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559500C>T | CA4451004 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559501C>A | CA10606584 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559501C= | CA1737384214 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559501C>G | CA368984386 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559501C>T | CA368984387 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559502T>A | CA457228762 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559502T>C | CA457228763 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559502T>G | CA457228764 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559502T= | CA1737384220 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559503T>A | CA368984391 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559503T>C | CA368984389 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559503T>G | CA368984390 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559503_117559505delinsTCA | CA1737384224 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559504C>A | CA368984393 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559504C>G | CA368984394 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559504C>T | CA368984396 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559504_117559505del | CA326481 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559505A>C | CA457228765 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559505A>G | CA457228766 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559505A>T | CA457228767 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559506G>A | CA368984399 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559506G>C | CA368984402 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559506G= | CA1737384230 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559506G>T | CA326482 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559507A= | CA1737384233 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559507A>C | CA10605638 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559507A>G | CA368984405 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559507A>T | CA368984407 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559508G>A | CA457228768 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559508G>C | CA4451005 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559508G= | CA1737384241 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559508G>T | CA368984408 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559510del | CA2695208319 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559508_117559509insA | CA2573335088 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509G>A | CA326484 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559509G>C | CA368984411 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509G= | CA1737384253 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559509G>T | CA221007 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559509delinsAC | CA1139655061 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509delinsAT | CA2573335089 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509delinsCC | CA1139532033 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559509_117559510insT | CA2573332261 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559510G>A | CA326486 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559510G>C | CA368984414 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559510G= | CA1737384261 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559510G>T | CA368984416 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559511T>A | CA457228769 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559511T>C | CA164967688 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559511T>G | CA457228770 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559511T= | CA1737384264 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559512A= | CA1737384266 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559512A>C | CA368984418 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559512A>G | CA164967690 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559512A>T | CA368984420 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559513A>C | CA368984422 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559513A>G | CA368984424 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559513A>T | CA368984425 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559514A>C | CA368984427 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559514A>G | CA457228771 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559514A>T | CA368984428 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559514_117559515insT | CA2695208320 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559515A= | CA1737384269 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559515A>C | CA368984433 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559515A>G | CA368984434 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559515A>T | CA368984431 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559516T>A | CA368984436 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559516T>C | CA368984438 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559516T>G | CA368984440 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559517dup | CA326488 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559517T>A | CA164967692 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559517T>C | CA457228772 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559517T>G | CA368984441 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559517T= | CA1737384276 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559518A= | CA1737384283 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559518A>C | CA368984446 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559518A>G | CA368984443 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559518A>T | CA368984445 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559519A>C | CA368984447 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559519A>G | CA368984448 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559519A>T | CA368984450 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559520G>A | CA457228773 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559520G>C | CA368984452 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559520G>T | CA368984453 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559521C>A | CA368984457 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559521C= | CA1737384290 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559521C>G | CA368984455 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559521C>T | CA326489 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559522A= | CA1737384294 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559522A>C | CA368984458 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559522A>G | CA368984461 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559522A>T | CA368984460 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559523C>A | CA368984463 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559523C>G | CA368984464 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559523C>T | CA457228774 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559524A= | CA1737384297 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559524A>C | CA368984465 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559524A>G | CA368984466 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559524A>T | CA326491 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559525G>A | CA368984468 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559525G>C | CA4451006 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559525G= | CA1737384305 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559525G>T | CA368984470 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559526T>A | CA368984471 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559526T>C | CA457228775 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559526T>G | CA368984472 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559527G>A | CA368984474 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559527G>C | CA368984475 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559527G>T | CA368984477 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559528G>A | CA368984481 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559528G>C | CA368984478 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559528G>T | CA368984480 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559529A= | CA1737384314 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559529A>C | CA457228776 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559529A>G | CA164967698 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559529A>T | CA457228777 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559530A>C | CA457228778 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559530A>G | CA368984483 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559530A>T | CA368984484 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559531G>A | CA4451007 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559531G>C | CA368984487 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559531G= | CA1737384319 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559531G>T | CA368984488 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559532A>C | CA368984490 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559532A>G | CA457228779 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559532A>T | CA368984492 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559533A>C | CA368984493 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559533A>G | CA368984494 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559533A>T | CA368984496 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559536_117559540del | CA2573141542 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559534T>A | CA368984499 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559534T>C | CA368984501 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559534T>G | CA368984498 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559535_117559547del | CA2573141543 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559535T>A | CA457228781 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559535T>C | CA457228780 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559535T>G | CA368984502 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559535T= | CA1737384326 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559536T>A | CA368984504 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559536T>C | CA368984505 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559536T>G | CA368984507 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559537C>A | CA328087 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559537C= | CA1737384340 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559537C>G | CA368984509 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559537C>T | CA164967713 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559538A= | CA1737384347 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559538A>C | CA457228797 | CFTR,CFTR-AS1 | c.1467A>C (p.Ser489=) c.*1181A>C (n.*1181A>C) c.1284A>C (p.Ser428=) c.*25A>C (n.*25A>C) c.*1291A>C (n.*1291A>C) c.1041A>C (p.Ser347=) c.1377A>C (p.Ser459=) c.1557A>C (p.Ser519=) c.1224A>C (p.Ser408=) n.221+1195T>G | ClinVar gnomAD v4 |
7 | g.117559538A>G | CA457228799 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559538A>T | CA457228798 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559538_117559539delinsAT | CA1737384344 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559539T>A | CA368984511 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559539T>C | CA368984512 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559539T>G | CA368984513 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559540del | CA4451008 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559539_117559541delinsTTC | CA1737384359 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559539_117559542del | CA2695199619 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559540T>A | CA368984517 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559540T>C | CA368984516 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559540T>G | CA4451009 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559540T= | CA1737384367 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559541_117559542del | CA326493 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559541C>A | CA368984519 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559541C= | CA1737384375 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559541C>G | CA368984520 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559541C>T | CA457228801 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559542T>A | CA368984522 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559542T>C | CA326494 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559542T>G | CA368984524 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559542T= | CA1737384382 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559543_117559553del | CA2580076300 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559543G>A | CA368984526 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559543G>C | CA368984527 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559543G= | CA1737384396 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559543G>T | CA4451010 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559544T>A | CA368984529 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559544T>C | CA457228805 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559544T>G | CA368984530 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559545T>A | CA368984532 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559545T>C | CA368984533 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559545T>G | CA368984535 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559546C>A | CA368984536 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559546C= | CA1737384406 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559546C>G | CA368984537 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559546C>T | CA325551 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559547T>A | CA457228809 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559547T>C | CA457228806 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559547T>G | CA457228808 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559547_117559549delinsTCA | CA1737384413 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559548C>A | CA368984539 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559548C= | CA1737384422 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559548C>G | CA368984540 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559548C>T | CA325518 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559548_117559549del | CA325605 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559549A= | CA1737384430 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559549A>C | CA326496 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559549A>G | CA326498 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559549A>T | CA368984544 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559550G>A | CA457228811 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559550G>C | CA368984545 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559550G= | CA1737384441 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559550G>T | CA368984546 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559550_117559552delinsGTT | CA1737384442 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559550_117559565delinsCCTT | CA2695208321 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559551T>A | CA368984548 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559551T>C | CA368984549 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559551T>G | CA368984551 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559551T= | CA1737384445 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559554del | CA2580076302 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559553_117559554del | CA326500 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559552T>A | CA368984552 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559552T>C | CA368984554 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559552T>G | CA368984555 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559553T>A | CA368984557 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559553T>C | CA457228814 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559553T>G | CA368984558 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559553T= | CA1737384450 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559554T>A | CA368984560 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559554T>C | CA368984562 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559554T>G | CA368984563 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559554T= | CA1737384452 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559555C>A | CA368984566 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559555C= | CA1737384457 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559555C>G | CA368984567 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559555C>T | CA164967725 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559556C>A | CA457228819 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559556C>G | CA457228818 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559556C>T | CA457228817 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559556_117559557delinsCT | CA1737384465 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559557del | CA915945483 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559557T>A | CA368984569 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559557T>C | CA368984571 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559557T>G | CA368984573 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559557T= | CA1737384478 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559558G>A | CA326501 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559558G>C | CA368984574 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559558G= | CA1737384487 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559558G>T | CA368984576 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559559G>A | CA164967727 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559559G>C | CA164967729 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559559G= | CA1737384490 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559559G>T | CA368984578 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559560A>C | CA368984580 | CFTR,CFTR-AS1 | c.1489A>C (p.Ile497Leu) c.*1203A>C (n.*1203A>C) c.1306A>C (p.Ile436Leu) c.*47A>C (n.*47A>C) c.*1313A>C (n.*1313A>C) c.1063A>C (p.Ile355Leu) c.1399A>C (p.Ile467Leu) c.1579A>C (p.Ile527Leu) c.1246A>C (p.Ile416Leu) n.221+1173T>G | |
7 | g.117559560A>G | CA368984581 | CFTR,CFTR-AS1 | c.1489A>G (p.Ile497Val) c.*1203A>G (n.*1203A>G) c.1306A>G (p.Ile436Val) c.*47A>G (n.*47A>G) c.*1313A>G (n.*1313A>G) c.1063A>G (p.Ile355Val) c.1399A>G (p.Ile467Val) c.1579A>G (p.Ile527Val) c.1246A>G (p.Ile416Val) n.221+1173T>C | gnomAD v4 |
7 | g.117559560A>T | CA368984582 | CFTR,CFTR-AS1 | c.1489A>T (p.Ile497Phe) c.*1203A>T (n.*1203A>T) c.1306A>T (p.Ile436Phe) c.*47A>T (n.*47A>T) c.*1313A>T (n.*1313A>T) c.1063A>T (p.Ile355Phe) c.1399A>T (p.Ile467Phe) c.1579A>T (p.Ile527Phe) c.1246A>T (p.Ile416Phe) n.221+1173T>A | gnomAD v4 |
7 | g.117559564_117559578del | CA2573052806 | CFTR,CFTR-AS1 | c.1493_1507del (p.Met498_Ile502del) c.*1207_*1221del (n.*1207_*1221del) c.1310_1324del (p.Met437_Ile441del) c.*51_*65del (n.*51_*65del) c.*1317_*1331del (n.*1317_*1331del) c.1067_1081del (p.Met356_Ile360del) c.1403_1417del (p.Met468_Ile472del) c.1583_1597del (p.Met528_Ile532del) c.1250_1264del (p.Met417_Ile421del) n.221+1159_221+1173del | ClinVar dbSNP |
7 | g.117559561T>A | CA368984584 | CFTR,CFTR-AS1 | c.1490T>A (p.Ile497Asn) c.*1204T>A (n.*1204T>A) c.1307T>A (p.Ile436Asn) c.*48T>A (n.*48T>A) c.*1314T>A (n.*1314T>A) c.1064T>A (p.Ile355Asn) c.1400T>A (p.Ile467Asn) c.1580T>A (p.Ile527Asn) c.1247T>A (p.Ile416Asn) n.221+1172A>T | |
7 | g.117559561T>C | CA368984586 | CFTR,CFTR-AS1 | c.1490T>C (p.Ile497Thr) c.*1204T>C (n.*1204T>C) c.1307T>C (p.Ile436Thr) c.*48T>C (n.*48T>C) c.*1314T>C (n.*1314T>C) c.1064T>C (p.Ile355Thr) c.1400T>C (p.Ile467Thr) c.1580T>C (p.Ile527Thr) c.1247T>C (p.Ile416Thr) n.221+1172A>G | |
7 | g.117559561T>G | CA368984588 | CFTR,CFTR-AS1 | c.1490T>G (p.Ile497Ser) c.*1204T>G (n.*1204T>G) c.1307T>G (p.Ile436Ser) c.*48T>G (n.*48T>G) c.*1314T>G (n.*1314T>G) c.1064T>G (p.Ile355Ser) c.1400T>G (p.Ile467Ser) c.1580T>G (p.Ile527Ser) c.1247T>G (p.Ile416Ser) n.221+1172A>C | ClinVar dbSNP |
7 | g.117559561T= | CA1737384498 | CFTR,CFTR-AS1 | c.1490T= (p.Ile497=) c.*1204T= (n.*1204T=) c.1307T= (p.Ile436=) c.*48T= (n.*48T=) c.*1314T= (n.*1314T=) c.1064T= (p.Ile355=) c.1400T= (p.Ile467=) c.1580T= (p.Ile527=) c.1247T= (p.Ile416=) n.221+1172A= | |
7 | g.117559562T>A | CA457228824 | CFTR,CFTR-AS1 | c.1491T>A (p.Ile497=) c.*1205T>A (n.*1205T>A) c.1308T>A (p.Ile436=) c.*49T>A (n.*49T>A) c.*1315T>A (n.*1315T>A) c.1065T>A (p.Ile355=) c.1401T>A (p.Ile467=) c.1581T>A (p.Ile527=) c.1248T>A (p.Ile416=) n.221+1171A>T | |
7 | g.117559562T>C | CA457228825 | CFTR,CFTR-AS1 | c.1491T>C (p.Ile497=) c.*1205T>C (n.*1205T>C) c.1308T>C (p.Ile436=) c.*49T>C (n.*49T>C) c.*1315T>C (n.*1315T>C) c.1065T>C (p.Ile355=) c.1401T>C (p.Ile467=) c.1581T>C (p.Ile527=) c.1248T>C (p.Ile416=) n.221+1171A>G | |
7 | g.117559562T>G | CA368984590 | CFTR,CFTR-AS1 | c.1491T>G (p.Ile497Met) c.*1205T>G (n.*1205T>G) c.1308T>G (p.Ile436Met) c.*49T>G (n.*49T>G) c.*1315T>G (n.*1315T>G) c.1065T>G (p.Ile355Met) c.1401T>G (p.Ile467Met) c.1581T>G (p.Ile527Met) c.1248T>G (p.Ile416Met) n.221+1171A>C | |
7 | g.117559563A= | CA1737384505 | CFTR,CFTR-AS1 | c.1492A= (p.Met498=) c.*1206A= (n.*1206A=) c.1309A= (p.Met437=) c.*50A= (n.*50A=) c.*1316A= (n.*1316A=) c.1066A= (p.Met356=) c.1402A= (p.Met468=) c.1582A= (p.Met528=) c.1249A= (p.Met417=) n.221+1170T= | |
7 | g.117559563A>C | CA368984592 | CFTR,CFTR-AS1 | c.1492A>C (p.Met498Leu) c.*1206A>C (n.*1206A>C) c.1309A>C (p.Met437Leu) c.*50A>C (n.*50A>C) c.*1316A>C (n.*1316A>C) c.1066A>C (p.Met356Leu) c.1402A>C (p.Met468Leu) c.1582A>C (p.Met528Leu) c.1249A>C (p.Met417Leu) n.221+1170T>G | |
7 | g.117559563A>G | CA368984594 | CFTR,CFTR-AS1 | c.1492A>G (p.Met498Val) c.*1206A>G (n.*1206A>G) c.1309A>G (p.Met437Val) c.*50A>G (n.*50A>G) c.*1316A>G (n.*1316A>G) c.1066A>G (p.Met356Val) c.1402A>G (p.Met468Val) c.1582A>G (p.Met528Val) c.1249A>G (p.Met417Val) n.221+1170T>C | ClinVar dbSNP gnomAD v4 |
7 | g.117559563A>T | CA368984596 | CFTR,CFTR-AS1 | c.1492A>T (p.Met498Leu) c.*1206A>T (n.*1206A>T) c.1309A>T (p.Met437Leu) c.*50A>T (n.*50A>T) c.*1316A>T (n.*1316A>T) c.1066A>T (p.Met356Leu) c.1402A>T (p.Met468Leu) c.1582A>T (p.Met528Leu) c.1249A>T (p.Met417Leu) n.221+1170T>A | |
7 | g.117559564T>A | CA368984597 | CFTR,CFTR-AS1 | c.1493T>A (p.Met498Lys) c.*1207T>A (n.*1207T>A) c.1310T>A (p.Met437Lys) c.*51T>A (n.*51T>A) c.*1317T>A (n.*1317T>A) c.1067T>A (p.Met356Lys) c.1403T>A (p.Met468Lys) c.1583T>A (p.Met528Lys) c.1250T>A (p.Met417Lys) n.221+1169A>T | |
7 | g.117559564T>C | CA368984599 | CFTR,CFTR-AS1 | c.1493T>C (p.Met498Thr) c.*1207T>C (n.*1207T>C) c.1310T>C (p.Met437Thr) c.*51T>C (n.*51T>C) c.*1317T>C (n.*1317T>C) c.1067T>C (p.Met356Thr) c.1403T>C (p.Met468Thr) c.1583T>C (p.Met528Thr) c.1250T>C (p.Met417Thr) n.221+1169A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559564T>G | CA368984601 | CFTR,CFTR-AS1 | c.1493T>G (p.Met498Arg) c.*1207T>G (n.*1207T>G) c.1310T>G (p.Met437Arg) c.*51T>G (n.*51T>G) c.*1317T>G (n.*1317T>G) c.1067T>G (p.Met356Arg) c.1403T>G (p.Met468Arg) c.1583T>G (p.Met528Arg) c.1250T>G (p.Met417Arg) n.221+1169A>C | |
7 | g.117559564T= | CA1737384508 | CFTR,CFTR-AS1 | c.1493T= (p.Met498=) c.*1207T= (n.*1207T=) c.1310T= (p.Met437=) c.*51T= (n.*51T=) c.*1317T= (n.*1317T=) c.1067T= (p.Met356=) c.1403T= (p.Met468=) c.1583T= (p.Met528=) c.1250T= (p.Met417=) n.221+1169A= | |
7 | g.117559565G>A | CA368984604 | CFTR,CFTR-AS1 | c.1494G>A (p.Met498Ile) c.*1208G>A (n.*1208G>A) c.1311G>A (p.Met437Ile) c.*52G>A (n.*52G>A) c.*1318G>A (n.*1318G>A) c.1068G>A (p.Met356Ile) c.1404G>A (p.Met468Ile) c.1584G>A (p.Met528Ile) c.1251G>A (p.Met417Ile) n.221+1168C>T | |
7 | g.117559565G>C | CA326505 | CFTR,CFTR-AS1 | c.1494G>C (p.Met498Ile) c.*1208G>C (n.*1208G>C) c.1311G>C (p.Met437Ile) c.*52G>C (n.*52G>C) c.*1318G>C (n.*1318G>C) c.1068G>C (p.Met356Ile) c.1404G>C (p.Met468Ile) c.1584G>C (p.Met528Ile) c.1251G>C (p.Met417Ile) n.221+1168C>G | dbSNP |
7 | g.117559565G= | CA1737384513 | CFTR,CFTR-AS1 | c.1494G= (p.Met498=) c.*1208G= (n.*1208G=) c.1311G= (p.Met437=) c.*52G= (n.*52G=) c.*1318G= (n.*1318G=) c.1068G= (p.Met356=) c.1404G= (p.Met468=) c.1584G= (p.Met528=) c.1251G= (p.Met417=) n.221+1168C= | |
7 | g.117559565G>T | CA368984603 | CFTR,CFTR-AS1 | c.1494G>T (p.Met498Ile) c.*1208G>T (n.*1208G>T) c.1311G>T (p.Met437Ile) c.*52G>T (n.*52G>T) c.*1318G>T (n.*1318G>T) c.1068G>T (p.Met356Ile) c.1404G>T (p.Met468Ile) c.1584G>T (p.Met528Ile) c.1251G>T (p.Met417Ile) n.221+1168C>A | |
7 | g.117559566C>A | CA368984605 | CFTR,CFTR-AS1 | c.1495C>A (p.Pro499Thr) c.*1209C>A (n.*1209C>A) c.1312C>A (p.Pro438Thr) c.*53C>A (n.*53C>A) c.*1319C>A (n.*1319C>A) c.1069C>A (p.Pro357Thr) c.1405C>A (p.Pro469Thr) c.1585C>A (p.Pro529Thr) c.1252C>A (p.Pro418Thr) n.221+1167G>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559566C= | CA1737384520 | CFTR,CFTR-AS1 | c.1495C= (p.Pro499=) c.*1209C= (n.*1209C=) c.1312C= (p.Pro438=) c.*53C= (n.*53C=) c.*1319C= (n.*1319C=) c.1069C= (p.Pro357=) c.1405C= (p.Pro469=) c.1585C= (p.Pro529=) c.1252C= (p.Pro418=) n.221+1167G= | |
7 | g.117559566C>G | CA326507 | CFTR,CFTR-AS1 | c.1495C>G (p.Pro499Ala) c.*1209C>G (n.*1209C>G) c.1312C>G (p.Pro438Ala) c.*53C>G (n.*53C>G) c.*1319C>G (n.*1319C>G) c.1069C>G (p.Pro357Ala) c.1405C>G (p.Pro469Ala) c.1585C>G (p.Pro529Ala) c.1252C>G (p.Pro418Ala) n.221+1167G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559566C>T | CA368984606 | CFTR,CFTR-AS1 | c.1495C>T (p.Pro499Ser) c.*1209C>T (n.*1209C>T) c.1312C>T (p.Pro438Ser) c.*53C>T (n.*53C>T) c.*1319C>T (n.*1319C>T) c.1069C>T (p.Pro357Ser) c.1405C>T (p.Pro469Ser) c.1585C>T (p.Pro529Ser) c.1252C>T (p.Pro418Ser) n.221+1167G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559567C>A | CA368984607 | CFTR,CFTR-AS1 | c.1496C>A (p.Pro499His) c.*1210C>A (n.*1210C>A) c.1313C>A (p.Pro438His) c.*54C>A (n.*54C>A) c.*1320C>A (n.*1320C>A) c.1070C>A (p.Pro357His) c.1406C>A (p.Pro469His) c.1586C>A (p.Pro529His) c.1253C>A (p.Pro418His) n.221+1166G>T | |
7 | g.117559567C= | CA1737384526 | CFTR,CFTR-AS1 | c.1496C= (p.Pro499=) c.*1210C= (n.*1210C=) c.1313C= (p.Pro438=) c.*54C= (n.*54C=) c.*1320C= (n.*1320C=) c.1070C= (p.Pro357=) c.1406C= (p.Pro469=) c.1586C= (p.Pro529=) c.1253C= (p.Pro418=) n.221+1166G= | |
7 | g.117559567C>G | CA368984611 | CFTR,CFTR-AS1 | c.1496C>G (p.Pro499Arg) c.*1210C>G (n.*1210C>G) c.1313C>G (p.Pro438Arg) c.*54C>G (n.*54C>G) c.*1320C>G (n.*1320C>G) c.1070C>G (p.Pro357Arg) c.1406C>G (p.Pro469Arg) c.1586C>G (p.Pro529Arg) c.1253C>G (p.Pro418Arg) n.221+1166G>C | |
7 | g.117559567C>T | CA368984613 | CFTR,CFTR-AS1 | c.1496C>T (p.Pro499Leu) c.*1210C>T (n.*1210C>T) c.1313C>T (p.Pro438Leu) c.*54C>T (n.*54C>T) c.*1320C>T (n.*1320C>T) c.1070C>T (p.Pro357Leu) c.1406C>T (p.Pro469Leu) c.1586C>T (p.Pro529Leu) c.1253C>T (p.Pro418Leu) n.221+1166G>A | ClinVar dbSNP |
7 | g.117559568T>A | CA457228827 | CFTR,CFTR-AS1 | c.1497T>A (p.Pro499=) c.*1211T>A (n.*1211T>A) c.1314T>A (p.Pro438=) c.*55T>A (n.*55T>A) c.*1321T>A (n.*1321T>A) c.1071T>A (p.Pro357=) c.1407T>A (p.Pro469=) c.1587T>A (p.Pro529=) c.1254T>A (p.Pro418=) n.221+1165A>T | |
7 | g.117559568T>C | CA457228829 | CFTR,CFTR-AS1 | c.1497T>C (p.Pro499=) c.*1211T>C (n.*1211T>C) c.1314T>C (p.Pro438=) c.*55T>C (n.*55T>C) c.*1321T>C (n.*1321T>C) c.1071T>C (p.Pro357=) c.1407T>C (p.Pro469=) c.1587T>C (p.Pro529=) c.1254T>C (p.Pro418=) n.221+1165A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559568T>G | CA457228830 | CFTR,CFTR-AS1 | c.1497T>G (p.Pro499=) c.*1211T>G (n.*1211T>G) c.1314T>G (p.Pro438=) c.*55T>G (n.*55T>G) c.*1321T>G (n.*1321T>G) c.1071T>G (p.Pro357=) c.1407T>G (p.Pro469=) c.1587T>G (p.Pro529=) c.1254T>G (p.Pro418=) n.221+1165A>C | |
7 | g.117559568T= | CA1737384531 | CFTR,CFTR-AS1 | c.1497T= (p.Pro499=) c.*1211T= (n.*1211T=) c.1314T= (p.Pro438=) c.*55T= (n.*55T=) c.*1321T= (n.*1321T=) c.1071T= (p.Pro357=) c.1407T= (p.Pro469=) c.1587T= (p.Pro529=) c.1254T= (p.Pro418=) n.221+1165A= | |
7 | g.117559569G>A | CA368984616 | CFTR,CFTR-AS1 | c.1498G>A (p.Gly500Ser) c.*1212G>A (n.*1212G>A) c.1315G>A (p.Gly439Ser) c.*56G>A (n.*56G>A) c.*1322G>A (n.*1322G>A) c.1072G>A (p.Gly358Ser) c.1408G>A (p.Gly470Ser) c.1588G>A (p.Gly530Ser) c.1255G>A (p.Gly419Ser) n.221+1164C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559569G>C | CA368984619 | CFTR,CFTR-AS1 | c.1498G>C (p.Gly500Arg) c.*1212G>C (n.*1212G>C) c.1315G>C (p.Gly439Arg) c.*56G>C (n.*56G>C) c.*1322G>C (n.*1322G>C) c.1072G>C (p.Gly358Arg) c.1408G>C (p.Gly470Arg) c.1588G>C (p.Gly530Arg) c.1255G>C (p.Gly419Arg) n.221+1164C>G | |
7 | g.117559569G= | CA1737384535 | CFTR,CFTR-AS1 | c.1498G= (p.Gly500=) c.*1212G= (n.*1212G=) c.1315G= (p.Gly439=) c.*56G= (n.*56G=) c.*1322G= (n.*1322G=) c.1072G= (p.Gly358=) c.1408G= (p.Gly470=) c.1588G= (p.Gly530=) c.1255G= (p.Gly419=) n.221+1164C= | |
7 | g.117559569G>T | CA368984625 | CFTR,CFTR-AS1 | c.1498G>T (p.Gly500Cys) c.*1212G>T (n.*1212G>T) c.1315G>T (p.Gly439Cys) c.*56G>T (n.*56G>T) c.*1322G>T (n.*1322G>T) c.1072G>T (p.Gly358Cys) c.1408G>T (p.Gly470Cys) c.1588G>T (p.Gly530Cys) c.1255G>T (p.Gly419Cys) n.221+1164C>A | |
7 | g.117559570G>A | CA4451011 | CFTR,CFTR-AS1 | c.1499G>A (p.Gly500Asp) c.*1213G>A (n.*1213G>A) c.1316G>A (p.Gly439Asp) c.*57G>A (n.*57G>A) c.*1323G>A (n.*1323G>A) c.1073G>A (p.Gly358Asp) c.1409G>A (p.Gly470Asp) c.1589G>A (p.Gly530Asp) c.1256G>A (p.Gly419Asp) n.221+1163C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559570G>C | CA368984628 | CFTR,CFTR-AS1 | c.1499G>C (p.Gly500Ala) c.*1213G>C (n.*1213G>C) c.1316G>C (p.Gly439Ala) c.*57G>C (n.*57G>C) c.*1323G>C (n.*1323G>C) c.1073G>C (p.Gly358Ala) c.1409G>C (p.Gly470Ala) c.1589G>C (p.Gly530Ala) c.1256G>C (p.Gly419Ala) n.221+1163C>G | |
7 | g.117559570G= | CA1737384542 | CFTR,CFTR-AS1 | c.1499G= (p.Gly500=) c.*1213G= (n.*1213G=) c.1316G= (p.Gly439=) c.*57G= (n.*57G=) c.*1323G= (n.*1323G=) c.1073G= (p.Gly358=) c.1409G= (p.Gly470=) c.1589G= (p.Gly530=) c.1256G= (p.Gly419=) n.221+1163C= | |
7 | g.117559570G>T | CA368984629 | CFTR,CFTR-AS1 | c.1499G>T (p.Gly500Val) c.*1213G>T (n.*1213G>T) c.1316G>T (p.Gly439Val) c.*57G>T (n.*57G>T) c.*1323G>T (n.*1323G>T) c.1073G>T (p.Gly358Val) c.1409G>T (p.Gly470Val) c.1589G>T (p.Gly530Val) c.1256G>T (p.Gly419Val) n.221+1163C>A | |
7 | g.117559571C>A | CA4451012 | CFTR,CFTR-AS1 | c.1500C>A (p.Gly500=) c.*1214C>A (n.*1214C>A) c.1317C>A (p.Gly439=) c.*58C>A (n.*58C>A) c.*1324C>A (n.*1324C>A) c.1074C>A (p.Gly358=) c.1410C>A (p.Gly470=) c.1590C>A (p.Gly530=) c.1257C>A (p.Gly419=) n.221+1162G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117559571C= | CA1737384550 | CFTR,CFTR-AS1 | c.1500C= (p.Gly500=) c.*1214C= (n.*1214C=) c.1317C= (p.Gly439=) c.*58C= (n.*58C=) c.*1324C= (n.*1324C=) c.1074C= (p.Gly358=) c.1410C= (p.Gly470=) c.1590C= (p.Gly530=) c.1257C= (p.Gly419=) n.221+1162G= | |
7 | g.117559571C>G | CA457228834 | CFTR,CFTR-AS1 | c.1500C>G (p.Gly500=) c.*1214C>G (n.*1214C>G) c.1317C>G (p.Gly439=) c.*58C>G (n.*58C>G) c.*1324C>G (n.*1324C>G) c.1074C>G (p.Gly358=) c.1410C>G (p.Gly470=) c.1590C>G (p.Gly530=) c.1257C>G (p.Gly419=) n.221+1162G>C | ClinVar |
7 | g.117559571C>T | CA457228835 | CFTR,CFTR-AS1 | c.1500C>T (p.Gly500=) c.*1214C>T (n.*1214C>T) c.1317C>T (p.Gly439=) c.*58C>T (n.*58C>T) c.*1324C>T (n.*1324C>T) c.1074C>T (p.Gly358=) c.1410C>T (p.Gly470=) c.1590C>T (p.Gly530=) c.1257C>T (p.Gly419=) n.221+1162G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559572A= | CA1737384554 | CFTR,CFTR-AS1 | c.1501A= (p.Thr501=) c.*1215A= (n.*1215A=) c.1318A= (p.Thr440=) c.*59A= (n.*59A=) c.*1325A= (n.*1325A=) c.1075A= (p.Thr359=) c.1411A= (p.Thr471=) c.1591A= (p.Thr531=) c.1258A= (p.Thr420=) n.221+1161T= | |
7 | g.117559572A>C | CA368984632 | CFTR,CFTR-AS1 | c.1501A>C (p.Thr501Pro) c.*1215A>C (n.*1215A>C) c.1318A>C (p.Thr440Pro) c.*59A>C (n.*59A>C) c.*1325A>C (n.*1325A>C) c.1075A>C (p.Thr359Pro) c.1411A>C (p.Thr471Pro) c.1591A>C (p.Thr531Pro) c.1258A>C (p.Thr420Pro) n.221+1161T>G | |
7 | g.117559572A>G | CA326510 | CFTR,CFTR-AS1 | c.1501A>G (p.Thr501Ala) c.*1215A>G (n.*1215A>G) c.1318A>G (p.Thr440Ala) c.*59A>G (n.*59A>G) c.*1325A>G (n.*1325A>G) c.1075A>G (p.Thr359Ala) c.1411A>G (p.Thr471Ala) c.1591A>G (p.Thr531Ala) c.1258A>G (p.Thr420Ala) n.221+1161T>C | ClinVar dbSNP |
7 | g.117559572A>T | CA368984631 | CFTR,CFTR-AS1 | c.1501A>T (p.Thr501Ser) c.*1215A>T (n.*1215A>T) c.1318A>T (p.Thr440Ser) c.*59A>T (n.*59A>T) c.*1325A>T (n.*1325A>T) c.1075A>T (p.Thr359Ser) c.1411A>T (p.Thr471Ser) c.1591A>T (p.Thr531Ser) c.1258A>T (p.Thr420Ser) n.221+1161T>A | |
7 | g.117559573C>A | CA368984635 | CFTR,CFTR-AS1 | c.1502C>A (p.Thr501Asn) c.*1216C>A (n.*1216C>A) c.1319C>A (p.Thr440Asn) c.*60C>A (n.*60C>A) c.*1326C>A (n.*1326C>A) c.1076C>A (p.Thr359Asn) c.1412C>A (p.Thr471Asn) c.1592C>A (p.Thr531Asn) c.1259C>A (p.Thr420Asn) n.221+1160G>T | |
7 | g.117559573C= | CA1737384559 | CFTR,CFTR-AS1 | c.1502C= (p.Thr501=) c.*1216C= (n.*1216C=) c.1319C= (p.Thr440=) c.*60C= (n.*60C=) c.*1326C= (n.*1326C=) c.1076C= (p.Thr359=) c.1412C= (p.Thr471=) c.1592C= (p.Thr531=) c.1259C= (p.Thr420=) n.221+1160G= | |
7 | g.117559573C>G | CA368984633 | CFTR,CFTR-AS1 | c.1502C>G (p.Thr501Ser) c.*1216C>G (n.*1216C>G) c.1319C>G (p.Thr440Ser) c.*60C>G (n.*60C>G) c.*1326C>G (n.*1326C>G) c.1076C>G (p.Thr359Ser) c.1412C>G (p.Thr471Ser) c.1592C>G (p.Thr531Ser) c.1259C>G (p.Thr420Ser) n.221+1160G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559573C>T | CA368984637 | CFTR,CFTR-AS1 | c.1502C>T (p.Thr501Ile) c.*1216C>T (n.*1216C>T) c.1319C>T (p.Thr440Ile) c.*60C>T (n.*60C>T) c.*1326C>T (n.*1326C>T) c.1076C>T (p.Thr359Ile) c.1412C>T (p.Thr471Ile) c.1592C>T (p.Thr531Ile) c.1259C>T (p.Thr420Ile) n.221+1160G>A | ClinVar dbSNP |
7 | g.117559574C>A | CA457228840 | CFTR,CFTR-AS1 | c.1503C>A (p.Thr501=) c.*1217C>A (n.*1217C>A) c.1320C>A (p.Thr440=) c.*61C>A (n.*61C>A) c.*1327C>A (n.*1327C>A) c.1077C>A (p.Thr359=) c.1413C>A (p.Thr471=) c.1593C>A (p.Thr531=) c.1260C>A (p.Thr420=) n.221+1159G>T | |
7 | g.117559574C>G | CA457228842 | CFTR,CFTR-AS1 | c.1503C>G (p.Thr501=) c.*1217C>G (n.*1217C>G) c.1320C>G (p.Thr440=) c.*61C>G (n.*61C>G) c.*1327C>G (n.*1327C>G) c.1077C>G (p.Thr359=) c.1413C>G (p.Thr471=) c.1593C>G (p.Thr531=) c.1260C>G (p.Thr420=) n.221+1159G>C | |
7 | g.117559574C>T | CA457228841 | CFTR,CFTR-AS1 | c.1503C>T (p.Thr501=) c.*1217C>T (n.*1217C>T) c.1320C>T (p.Thr440=) c.*61C>T (n.*61C>T) c.*1327C>T (n.*1327C>T) c.1077C>T (p.Thr359=) c.1413C>T (p.Thr471=) c.1593C>T (p.Thr531=) c.1260C>T (p.Thr420=) n.221+1159G>A | ClinVar |
7 | g.117559575A= | CA1737384561 | CFTR,CFTR-AS1 | c.1504A= (p.Ile502=) c.*1218A= (n.*1218A=) c.1321A= (p.Ile441=) c.*62A= (n.*62A=) c.*1328A= (n.*1328A=) c.1078A= (p.Ile360=) c.1414A= (p.Ile472=) c.1594A= (p.Ile532=) c.1261A= (p.Ile421=) n.221+1158T= | |
7 | g.117559575A>C | CA368984639 | CFTR,CFTR-AS1 | c.1504A>C (p.Ile502Leu) c.*1218A>C (n.*1218A>C) c.1321A>C (p.Ile441Leu) c.*62A>C (n.*62A>C) c.*1328A>C (n.*1328A>C) c.1078A>C (p.Ile360Leu) c.1414A>C (p.Ile472Leu) c.1594A>C (p.Ile532Leu) c.1261A>C (p.Ile421Leu) n.221+1158T>G | |
7 | g.117559575A>G | CA4451013 | CFTR,CFTR-AS1 | c.1504A>G (p.Ile502Val) c.*1218A>G (n.*1218A>G) c.1321A>G (p.Ile441Val) c.*62A>G (n.*62A>G) c.*1328A>G (n.*1328A>G) c.1078A>G (p.Ile360Val) c.1414A>G (p.Ile472Val) c.1594A>G (p.Ile532Val) c.1261A>G (p.Ile421Val) n.221+1158T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559575A>T | CA368984640 | CFTR,CFTR-AS1 | c.1504A>T (p.Ile502Phe) c.*1218A>T (n.*1218A>T) c.1321A>T (p.Ile441Phe) c.*62A>T (n.*62A>T) c.*1328A>T (n.*1328A>T) c.1078A>T (p.Ile360Phe) c.1414A>T (p.Ile472Phe) c.1594A>T (p.Ile532Phe) c.1261A>T (p.Ile421Phe) n.221+1158T>A | |
7 | g.117559576T>A | CA326512 | CFTR,CFTR-AS1 | c.1505T>A (p.Ile502Asn) c.*1219T>A (n.*1219T>A) c.1322T>A (p.Ile441Asn) c.*63T>A (n.*63T>A) c.*1329T>A (n.*1329T>A) c.1079T>A (p.Ile360Asn) c.1415T>A (p.Ile472Asn) c.1595T>A (p.Ile532Asn) c.1262T>A (p.Ile421Asn) n.221+1157A>T | ClinVar dbSNP |
7 | g.117559576T>C | CA326514 | CFTR,CFTR-AS1 | c.1505T>C (p.Ile502Thr) c.*1219T>C (n.*1219T>C) c.1322T>C (p.Ile441Thr) c.*63T>C (n.*63T>C) c.*1329T>C (n.*1329T>C) c.1079T>C (p.Ile360Thr) c.1415T>C (p.Ile472Thr) c.1595T>C (p.Ile532Thr) c.1262T>C (p.Ile421Thr) n.221+1157A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559576T>G | CA368984642 | CFTR,CFTR-AS1 | c.1505T>G (p.Ile502Ser) c.*1219T>G (n.*1219T>G) c.1322T>G (p.Ile441Ser) c.*63T>G (n.*63T>G) c.*1329T>G (n.*1329T>G) c.1079T>G (p.Ile360Ser) c.1415T>G (p.Ile472Ser) c.1595T>G (p.Ile532Ser) c.1262T>G (p.Ile421Ser) n.221+1157A>C | ClinVar dbSNP |
7 | g.117559576T= | CA1737384567 | CFTR,CFTR-AS1 | c.1505T= (p.Ile502=) c.*1219T= (n.*1219T=) c.1322T= (p.Ile441=) c.*63T= (n.*63T=) c.*1329T= (n.*1329T=) c.1079T= (p.Ile360=) c.1415T= (p.Ile472=) c.1595T= (p.Ile532=) c.1262T= (p.Ile421=) n.221+1157A= | |
7 | g.117559577T>A | CA457228846 | CFTR,CFTR-AS1 | c.1506T>A (p.Ile502=) c.*1220T>A (n.*1220T>A) c.1323T>A (p.Ile441=) c.*64T>A (n.*64T>A) c.*1330T>A (n.*1330T>A) c.1080T>A (p.Ile360=) c.1416T>A (p.Ile472=) c.1596T>A (p.Ile532=) c.1263T>A (p.Ile421=) n.221+1156A>T | |
7 | g.117559577T>C | CA457228847 | CFTR,CFTR-AS1 | c.1506T>C (p.Ile502=) c.*1220T>C (n.*1220T>C) c.1323T>C (p.Ile441=) c.*64T>C (n.*64T>C) c.*1330T>C (n.*1330T>C) c.1080T>C (p.Ile360=) c.1416T>C (p.Ile472=) c.1596T>C (p.Ile532=) c.1263T>C (p.Ile421=) n.221+1156A>G | |
7 | g.117559577T>G | CA368984649 | CFTR,CFTR-AS1 | c.1506T>G (p.Ile502Met) c.*1220T>G (n.*1220T>G) c.1323T>G (p.Ile441Met) c.*64T>G (n.*64T>G) c.*1330T>G (n.*1330T>G) c.1080T>G (p.Ile360Met) c.1416T>G (p.Ile472Met) c.1596T>G (p.Ile532Met) c.1263T>G (p.Ile421Met) n.221+1156A>C | gnomAD v4 |
7 | g.117559578A>C | CA368984652 | CFTR,CFTR-AS1 | c.1507A>C (p.Lys503Gln) c.*1221A>C (n.*1221A>C) c.1324A>C (p.Lys442Gln) c.*65A>C (n.*65A>C) c.*1331A>C (n.*1331A>C) c.1081A>C (p.Lys361Gln) c.1417A>C (p.Lys473Gln) c.1597A>C (p.Lys533Gln) c.1264A>C (p.Lys422Gln) n.221+1155T>G | |
7 | g.117559578A>G | CA368984655 | CFTR,CFTR-AS1 | c.1507A>G (p.Lys503Glu) c.*1221A>G (n.*1221A>G) c.1324A>G (p.Lys442Glu) c.*65A>G (n.*65A>G) c.*1331A>G (n.*1331A>G) c.1081A>G (p.Lys361Glu) c.1417A>G (p.Lys473Glu) c.1597A>G (p.Lys533Glu) c.1264A>G (p.Lys422Glu) n.221+1155T>C | ClinVar gnomAD v4 |
7 | g.117559578A>T | CA368984657 | CFTR,CFTR-AS1 | c.1507A>T (p.Lys503Ter) c.*1221A>T (n.*1221A>T) c.1324A>T (p.Lys442Ter) c.*65A>T (n.*65A>T) c.*1331A>T (n.*1331A>T) c.1081A>T (p.Lys361Ter) c.1417A>T (p.Lys473Ter) c.1597A>T (p.Lys533Ter) c.1264A>T (p.Lys422Ter) n.221+1155T>A | |
7 | g.117559579A>C | CA368984659 | CFTR,CFTR-AS1 | c.1508A>C (p.Lys503Thr) c.*1222A>C (n.*1222A>C) c.1325A>C (p.Lys442Thr) c.*66A>C (n.*66A>C) c.*1332A>C (n.*1332A>C) c.1082A>C (p.Lys361Thr) c.1418A>C (p.Lys473Thr) c.1598A>C (p.Lys533Thr) c.1265A>C (p.Lys422Thr) n.221+1154T>G | |
7 | g.117559579A>G | CA368984661 | CFTR,CFTR-AS1 | c.1508A>G (p.Lys503Arg) c.*1222A>G (n.*1222A>G) c.1325A>G (p.Lys442Arg) c.*66A>G (n.*66A>G) c.*1332A>G (n.*1332A>G) c.1082A>G (p.Lys361Arg) c.1418A>G (p.Lys473Arg) c.1598A>G (p.Lys533Arg) c.1265A>G (p.Lys422Arg) n.221+1154T>C | |
7 | g.117559579A>T | CA368984663 | CFTR,CFTR-AS1 | c.1508A>T (p.Lys503Ile) c.*1222A>T (n.*1222A>T) c.1325A>T (p.Lys442Ile) c.*66A>T (n.*66A>T) c.*1332A>T (n.*1332A>T) c.1082A>T (p.Lys361Ile) c.1418A>T (p.Lys473Ile) c.1598A>T (p.Lys533Ile) c.1265A>T (p.Lys422Ile) n.221+1154T>A | |
7 | g.117559580A>C | CA368984664 | CFTR,CFTR-AS1 | c.1509A>C (p.Lys503Asn) c.*1223A>C (n.*1223A>C) c.1326A>C (p.Lys442Asn) c.*67A>C (n.*67A>C) c.*1333A>C (n.*1333A>C) c.1083A>C (p.Lys361Asn) c.1419A>C (p.Lys473Asn) c.1599A>C (p.Lys533Asn) c.1266A>C (p.Lys422Asn) n.221+1153T>G | |
7 | g.117559580A>G | CA457228851 | CFTR,CFTR-AS1 | c.1509A>G (p.Lys503=) c.*1223A>G (n.*1223A>G) c.1326A>G (p.Lys442=) c.*67A>G (n.*67A>G) c.*1333A>G (n.*1333A>G) c.1083A>G (p.Lys361=) c.1419A>G (p.Lys473=) c.1599A>G (p.Lys533=) c.1266A>G (p.Lys422=) n.221+1153T>C | ClinVar |
7 | g.117559580A>T | CA368984666 | CFTR,CFTR-AS1 | c.1509A>T (p.Lys503Asn) c.*1223A>T (n.*1223A>T) c.1326A>T (p.Lys442Asn) c.*67A>T (n.*67A>T) c.*1333A>T (n.*1333A>T) c.1083A>T (p.Lys361Asn) c.1419A>T (p.Lys473Asn) c.1599A>T (p.Lys533Asn) c.1266A>T (p.Lys422Asn) n.221+1153T>A | |
7 | g.117559580_117559581delinsT | CA2695208323 | CFTR,CFTR-AS1 | c.1509_1510delinsT (p.Lys503AsnfsTer24) c.*1223_*1224delinsT (n.*1223_*1224delinsT) c.1326_1327delinsT (p.Lys442AsnfsTer24) c.*67_*68delinsT (n.*67_*68delinsT) c.*1333_*1334delinsT (n.*1333_*1334delinsT) c.1083_1084delinsT (p.Lys361AsnfsTer24) c.1419_1420delinsT (p.Lys473AsnfsTer24) c.1599_1600delinsT (p.Lys533AsnfsTer24) c.1266_1267delinsT (p.Lys422AsnfsTer24) n.221+1152_221+1153delinsA | |
7 | g.117559581G>A | CA368984667 | CFTR,CFTR-AS1 | c.1510G>A (p.Glu504Lys) c.*1224G>A (n.*1224G>A) c.1327G>A (p.Glu443Lys) c.*68G>A (n.*68G>A) c.*1334G>A (n.*1334G>A) c.1084G>A (p.Glu362Lys) c.1420G>A (p.Glu474Lys) c.1600G>A (p.Glu534Lys) c.1267G>A (p.Glu423Lys) n.221+1152C>T | COSMIC |
7 | g.117559581G>C | CA326516 | CFTR,CFTR-AS1 | c.1510G>C (p.Glu504Gln) c.*1224G>C (n.*1224G>C) c.1327G>C (p.Glu443Gln) c.*68G>C (n.*68G>C) c.*1334G>C (n.*1334G>C) c.1084G>C (p.Glu362Gln) c.1420G>C (p.Glu474Gln) c.1600G>C (p.Glu534Gln) c.1267G>C (p.Glu423Gln) n.221+1152C>G | ClinVar dbSNP |
7 | g.117559581G= | CA1737384583 | CFTR,CFTR-AS1 | c.1510G= (p.Glu504=) c.*1224G= (n.*1224G=) c.1327G= (p.Glu443=) c.*68G= (n.*68G=) c.*1334G= (n.*1334G=) c.1084G= (p.Glu362=) c.1420G= (p.Glu474=) c.1600G= (p.Glu534=) c.1267G= (p.Glu423=) n.221+1152C= | |
7 | g.117559581G>T | CA326517 | CFTR,CFTR-AS1 | c.1510G>T (p.Glu504Ter) c.*1224G>T (n.*1224G>T) c.1327G>T (p.Glu443Ter) c.*68G>T (n.*68G>T) c.*1334G>T (n.*1334G>T) c.1084G>T (p.Glu362Ter) c.1420G>T (p.Glu474Ter) c.1600G>T (p.Glu534Ter) c.1267G>T (p.Glu423Ter) n.221+1152C>A | ClinVar dbSNP |
7 | g.117559582A>C | CA368984668 | CFTR,CFTR-AS1 | c.1511A>C (p.Glu504Ala) c.*1225A>C (n.*1225A>C) c.1328A>C (p.Glu443Ala) c.*69A>C (n.*69A>C) c.*1335A>C (n.*1335A>C) c.1085A>C (p.Glu362Ala) c.1421A>C (p.Glu474Ala) c.1601A>C (p.Glu534Ala) c.1268A>C (p.Glu423Ala) n.221+1151T>G | |
7 | g.117559582A>G | CA368984669 | CFTR,CFTR-AS1 | c.1511A>G (p.Glu504Gly) c.*1225A>G (n.*1225A>G) c.1328A>G (p.Glu443Gly) c.*69A>G (n.*69A>G) c.*1335A>G (n.*1335A>G) c.1085A>G (p.Glu362Gly) c.1421A>G (p.Glu474Gly) c.1601A>G (p.Glu534Gly) c.1268A>G (p.Glu423Gly) n.221+1151T>C | |
7 | g.117559582A>T | CA368984672 | CFTR,CFTR-AS1 | c.1511A>T (p.Glu504Val) c.*1225A>T (n.*1225A>T) c.1328A>T (p.Glu443Val) c.*69A>T (n.*69A>T) c.*1335A>T (n.*1335A>T) c.1085A>T (p.Glu362Val) c.1421A>T (p.Glu474Val) c.1601A>T (p.Glu534Val) c.1268A>T (p.Glu423Val) n.221+1151T>A | |
7 | g.117559585del | CA2695208324 | CFTR,CFTR-AS1 | c.1514del (p.Asn505IlefsTer22) c.*1228del (n.*1228del) c.1331del (p.Asn444IlefsTer22) c.*72del (n.*72del) c.*1338del (n.*1338del) c.1088del (p.Asn363IlefsTer22) c.1424del (p.Asn475IlefsTer22) c.1604del (p.Asn535IlefsTer22) c.1271del (p.Asn424IlefsTer22) n.221+1151del |