Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |