Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.23355283T>A | CA387548983 | SACS | c.1329A>T (p.Lys443Asn) n.1467A>T c.1320A>T (p.Lys440Asn) n.3686A>T c.-922A>T (n.-922A>T) c.201A>T (p.Lys67Asn) c.1027A>T c.888A>T (p.Lys296Asn) c.1353A>T (p.Lys451Asn) | |
13 | g.23355283T>C | CA483164386 | SACS | c.1329A>G (p.Lys443=) n.1467A>G c.1320A>G (p.Lys440=) n.3686A>G c.-922A>G (n.-922A>G) c.201A>G (p.Lys67=) c.1027A>G c.888A>G (p.Lys296=) c.1353A>G (p.Lys451=) | |
13 | g.23355283T>G | CA387548984 | SACS | c.1329A>C (p.Lys443Asn) n.1467A>C c.1320A>C (p.Lys440Asn) n.3686A>C c.-922A>C (n.-922A>C) c.201A>C (p.Lys67Asn) c.1027A>C c.888A>C (p.Lys296Asn) c.1353A>C (p.Lys451Asn) | |
13 | g.23355284T>A | CA387548986 | SACS | c.1328A>T (p.Lys443Ile) n.1466A>T c.1319A>T (p.Lys440Ile) n.3685A>T c.-923A>T (n.-923A>T) c.200A>T (p.Lys67Ile) c.1026A>T c.887A>T (p.Lys296Ile) c.1352A>T (p.Lys451Ile) | |
13 | g.23355284T>C | CA387548989 | SACS | c.1328A>G (p.Lys443Arg) n.1466A>G c.1319A>G (p.Lys440Arg) n.3685A>G c.-923A>G (n.-923A>G) c.200A>G (p.Lys67Arg) c.1026A>G c.887A>G (p.Lys296Arg) c.1352A>G (p.Lys451Arg) | gnomAD v4 |
13 | g.23355284T>G | CA387548991 | SACS | c.1328A>C (p.Lys443Thr) n.1466A>C c.1319A>C (p.Lys440Thr) n.3685A>C c.-923A>C (n.-923A>C) c.200A>C (p.Lys67Thr) c.1026A>C c.887A>C (p.Lys296Thr) c.1352A>C (p.Lys451Thr) | |
13 | g.23355285T>A | CA387548993 | SACS | c.1327A>T (p.Lys443Ter) n.1465A>T c.1318A>T (p.Lys440Ter) n.3684A>T c.-924A>T (n.-924A>T) c.199A>T (p.Lys67Ter) c.1025A>T c.886A>T (p.Lys296Ter) c.1351A>T (p.Lys451Ter) | |
13 | g.23355285T>C | CA387548995 | SACS | c.1327A>G (p.Lys443Glu) n.1465A>G c.1318A>G (p.Lys440Glu) n.3684A>G c.-924A>G (n.-924A>G) c.199A>G (p.Lys67Glu) c.1025A>G c.886A>G (p.Lys296Glu) c.1351A>G (p.Lys451Glu) | |
13 | g.23355285T>G | CA387548996 | SACS | c.1327A>C (p.Lys443Gln) n.1465A>C c.1318A>C (p.Lys440Gln) n.3684A>C c.-924A>C (n.-924A>C) c.199A>C (p.Lys67Gln) c.1025A>C c.886A>C (p.Lys296Gln) c.1351A>C (p.Lys451Gln) | |
13 | g.23355286T>A | CA483164388 | SACS | c.1326A>T (p.Gly442=) n.1464A>T c.1317A>T (p.Gly439=) n.3683A>T c.-925A>T (n.-925A>T) c.198A>T (p.Gly66=) c.1024A>T c.885A>T (p.Gly295=) c.1350A>T (p.Gly450=) | |
13 | g.23355286T>C | CA483164389 | SACS | c.1326A>G (p.Gly442=) n.1464A>G c.1317A>G (p.Gly439=) n.3683A>G c.-925A>G (n.-925A>G) c.198A>G (p.Gly66=) c.1024A>G c.885A>G (p.Gly295=) c.1350A>G (p.Gly450=) | |
13 | g.23355286T>G | CA483164390 | SACS | c.1326A>C (p.Gly442=) n.1464A>C c.1317A>C (p.Gly439=) n.3683A>C c.-925A>C (n.-925A>C) c.198A>C (p.Gly66=) c.1024A>C c.885A>C (p.Gly295=) c.1350A>C (p.Gly450=) | |
13 | g.23355287C>A | CA387549003 | SACS | c.1325G>T (p.Gly442Val) n.1463G>T c.1316G>T (p.Gly439Val) n.3682G>T c.-926G>T (n.-926G>T) c.197G>T (p.Gly66Val) c.1023G>T c.884G>T (p.Gly295Val) c.1349G>T (p.Gly450Val) | |
13 | g.23355287C= | CA2078658463 | SACS | c.1325G= (p.Gly442=) n.1463G= c.1316G= (p.Gly439=) n.3682G= c.-926G= (n.-926G=) c.197G= (p.Gly66=) c.1023G= c.884G= (p.Gly295=) c.1349G= (p.Gly450=) | |
13 | g.23355287C>G | CA387549002 | SACS | c.1325G>C (p.Gly442Ala) n.1463G>C c.1316G>C (p.Gly439Ala) n.3682G>C c.-926G>C (n.-926G>C) c.197G>C (p.Gly66Ala) c.1023G>C c.884G>C (p.Gly295Ala) c.1349G>C (p.Gly450Ala) | |
13 | g.23355287C>T | CA387548999 | SACS | c.1325G>A (p.Gly442Glu) n.1463G>A c.1316G>A (p.Gly439Glu) n.3682G>A c.-926G>A (n.-926G>A) c.197G>A (p.Gly66Glu) c.1023G>A c.884G>A (p.Gly295Glu) c.1349G>A (p.Gly450Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.23355288C>A | CA387549007 | SACS | c.1324G>T (p.Gly442Ter) n.1462G>T c.1315G>T (p.Gly439Ter) n.3681G>T c.-927G>T (n.-927G>T) c.196G>T (p.Gly66Ter) c.1022G>T c.883G>T (p.Gly295Ter) c.1348G>T (p.Gly450Ter) | |
13 | g.23355288C>G | CA387549008 | SACS | c.1324G>C (p.Gly442Arg) n.1462G>C c.1315G>C (p.Gly439Arg) n.3681G>C c.-927G>C (n.-927G>C) c.196G>C (p.Gly66Arg) c.1022G>C c.883G>C (p.Gly295Arg) c.1348G>C (p.Gly450Arg) | |
13 | g.23355288C>T | CA387549011 | SACS | c.1324G>A (p.Gly442Arg) n.1462G>A c.1315G>A (p.Gly439Arg) n.3681G>A c.-927G>A (n.-927G>A) c.196G>A (p.Gly66Arg) c.1022G>A c.883G>A (p.Gly295Arg) c.1348G>A (p.Gly450Arg) | |
13 | g.23355289T>A | CA483164393 | SACS | c.1323A>T (p.Ser441=) n.1461A>T c.1314A>T (p.Ser438=) n.3680A>T c.-928A>T (n.-928A>T) c.195A>T (p.Ser65=) c.1021A>T c.882A>T (p.Ser294=) c.1347A>T (p.Ser449=) | |
13 | g.23355289T>C | CA483164395 | SACS | c.1323A>G (p.Ser441=) n.1461A>G c.1314A>G (p.Ser438=) n.3680A>G c.-928A>G (n.-928A>G) c.195A>G (p.Ser65=) c.1021A>G c.882A>G (p.Ser294=) c.1347A>G (p.Ser449=) | |
13 | g.23355289T>G | CA483164394 | SACS | c.1323A>C (p.Ser441=) n.1461A>C c.1314A>C (p.Ser438=) n.3680A>C c.-928A>C (n.-928A>C) c.195A>C (p.Ser65=) c.1021A>C c.882A>C (p.Ser294=) c.1347A>C (p.Ser449=) | |
13 | g.23355290G>A | CA6911926 | SACS | c.1322C>T (p.Ser441Leu) n.1460C>T c.1313C>T (p.Ser438Leu) n.3679C>T c.-929C>T (n.-929C>T) c.194C>T (p.Ser65Leu) c.1020C>T c.881C>T (p.Ser294Leu) c.1346C>T (p.Ser449Leu) | dbSNP ExAC gnomAD v2 |
13 | g.23355290G>C | CA387549013 | SACS | c.1322C>G (p.Ser441Ter) n.1460C>G c.1313C>G (p.Ser438Ter) n.3679C>G c.-929C>G (n.-929C>G) c.194C>G (p.Ser65Ter) c.1020C>G c.881C>G (p.Ser294Ter) c.1346C>G (p.Ser449Ter) | |
13 | g.23355290G= | CA2078658465 | SACS | c.1322C= (p.Ser441=) n.1460C= c.1313C= (p.Ser438=) n.3679C= c.-929C= (n.-929C=) c.194C= (p.Ser65=) c.1020C= c.881C= (p.Ser294=) c.1346C= (p.Ser449=) | |
13 | g.23355290G>T | CA387549014 | SACS | c.1322C>A (p.Ser441Ter) n.1460C>A c.1313C>A (p.Ser438Ter) n.3679C>A c.-929C>A (n.-929C>A) c.194C>A (p.Ser65Ter) c.1020C>A c.881C>A (p.Ser294Ter) c.1346C>A (p.Ser449Ter) | |
13 | g.23355291A= | CA2078658467 | SACS | c.1321T= (p.Ser441=) n.1459T= c.1312T= (p.Ser438=) n.3678T= c.-930T= (n.-930T=) c.193T= (p.Ser65=) c.1019T= c.880T= (p.Ser294=) c.1345T= (p.Ser449=) | |
13 | g.23355291A>C | CA387549027 | SACS | c.1321T>G (p.Ser441Ala) n.1459T>G c.1312T>G (p.Ser438Ala) n.3678T>G c.-930T>G (n.-930T>G) c.193T>G (p.Ser65Ala) c.1019T>G c.880T>G (p.Ser294Ala) c.1345T>G (p.Ser449Ala) | |
13 | g.23355291A>G | CA387549018 | SACS | c.1321T>C (p.Ser441Pro) n.1459T>C c.1312T>C (p.Ser438Pro) n.3678T>C c.-930T>C (n.-930T>C) c.193T>C (p.Ser65Pro) c.1019T>C c.880T>C (p.Ser294Pro) c.1345T>C (p.Ser449Pro) | dbSNP |
13 | g.23355291A>T | CA387549015 | SACS | c.1321T>A (p.Ser441Thr) n.1459T>A c.1312T>A (p.Ser438Thr) n.3678T>A c.-930T>A (n.-930T>A) c.193T>A (p.Ser65Thr) c.1019T>A c.880T>A (p.Ser294Thr) c.1345T>A (p.Ser449Thr) | |
13 | g.23355292G>A | CA6911927 | SACS | c.1320C>T (p.Phe440=) n.1458C>T c.1311C>T (p.Phe437=) n.3677C>T c.-931C>T (n.-931C>T) c.192C>T (p.Phe64=) c.1018C>T c.879C>T (p.Phe293=) c.1344C>T (p.Phe448=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23355292G>C | CA387549028 | SACS | c.1320C>G (p.Phe440Leu) n.1458C>G c.1311C>G (p.Phe437Leu) n.3677C>G c.-931C>G (n.-931C>G) c.192C>G (p.Phe64Leu) c.1018C>G c.879C>G (p.Phe293Leu) c.1344C>G (p.Phe448Leu) | |
13 | g.23355292G= | CA2078658470 | SACS | c.1320C= (p.Phe440=) n.1458C= c.1311C= (p.Phe437=) n.3677C= c.-931C= (n.-931C=) c.192C= (p.Phe64=) c.1018C= c.879C= (p.Phe293=) c.1344C= (p.Phe448=) | |
13 | g.23355292G>T | CA387549029 | SACS | c.1320C>A (p.Phe440Leu) n.1458C>A c.1311C>A (p.Phe437Leu) n.3677C>A c.-931C>A (n.-931C>A) c.192C>A (p.Phe64Leu) c.1018C>A c.879C>A (p.Phe293Leu) c.1344C>A (p.Phe448Leu) | COSMIC |
13 | g.23355293A= | CA2078658471 | SACS | c.1319T= (p.Phe440=) n.1457T= c.1310T= (p.Phe437=) n.3676T= c.-932T= (n.-932T=) c.191T= (p.Phe64=) c.1017T= c.878T= (p.Phe293=) c.1343T= (p.Phe448=) | |
13 | g.23355293A>C | CA387549032 | SACS | c.1319T>G (p.Phe440Cys) n.1457T>G c.1310T>G (p.Phe437Cys) n.3676T>G c.-932T>G (n.-932T>G) c.191T>G (p.Phe64Cys) c.1017T>G c.878T>G (p.Phe293Cys) c.1343T>G (p.Phe448Cys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.23355293A>G | CA387549033 | SACS | c.1319T>C (p.Phe440Ser) n.1457T>C c.1310T>C (p.Phe437Ser) n.3676T>C c.-932T>C (n.-932T>C) c.191T>C (p.Phe64Ser) c.1017T>C c.878T>C (p.Phe293Ser) c.1343T>C (p.Phe448Ser) | |
13 | g.23355293A>T | CA387549036 | SACS | c.1319T>A (p.Phe440Tyr) n.1457T>A c.1310T>A (p.Phe437Tyr) n.3676T>A c.-932T>A (n.-932T>A) c.191T>A (p.Phe64Tyr) c.1017T>A c.878T>A (p.Phe293Tyr) c.1343T>A (p.Phe448Tyr) | |
13 | g.23355294A>C | CA387549040 | SACS | c.1318T>G (p.Phe440Val) n.1456T>G c.1309T>G (p.Phe437Val) n.3675T>G c.-933T>G (n.-933T>G) c.190T>G (p.Phe64Val) c.1016T>G c.877T>G (p.Phe293Val) c.1342T>G (p.Phe448Val) | |
13 | g.23355294A>G | CA387549045 | SACS | c.1318T>C (p.Phe440Leu) n.1456T>C c.1309T>C (p.Phe437Leu) n.3675T>C c.-933T>C (n.-933T>C) c.190T>C (p.Phe64Leu) c.1016T>C c.877T>C (p.Phe293Leu) c.1342T>C (p.Phe448Leu) | |
13 | g.23355294A>T | CA387549041 | SACS | c.1318T>A (p.Phe440Ile) n.1456T>A c.1309T>A (p.Phe437Ile) n.3675T>A c.-933T>A (n.-933T>A) c.190T>A (p.Phe64Ile) c.1016T>A c.877T>A (p.Phe293Ile) c.1342T>A (p.Phe448Ile) | |
13 | g.23355295A>C | CA387549047 | SACS | c.1317T>G (p.Asp439Glu) n.1455T>G c.1308T>G (p.Asp436Glu) n.3674T>G c.-934T>G (n.-934T>G) c.189T>G (p.Asp63Glu) c.1015T>G c.876T>G (p.Asp292Glu) c.1341T>G (p.Asp447Glu) | |
13 | g.23355295A>G | CA483164407 | SACS | c.1317T>C (p.Asp439=) n.1455T>C c.1308T>C (p.Asp436=) n.3674T>C c.-934T>C (n.-934T>C) c.189T>C (p.Asp63=) c.1015T>C c.876T>C (p.Asp292=) c.1341T>C (p.Asp447=) | |
13 | g.23355295A>T | CA387549049 | SACS | c.1317T>A (p.Asp439Glu) n.1455T>A c.1308T>A (p.Asp436Glu) n.3674T>A c.-934T>A (n.-934T>A) c.189T>A (p.Asp63Glu) c.1015T>A c.876T>A (p.Asp292Glu) c.1341T>A (p.Asp447Glu) | |
13 | g.23355296T>A | CA387549053 | SACS | c.1316A>T (p.Asp439Val) n.1454A>T c.1307A>T (p.Asp436Val) n.3673A>T c.-935A>T (n.-935A>T) c.188A>T (p.Asp63Val) c.1014A>T c.875A>T (p.Asp292Val) c.1340A>T (p.Asp447Val) | |
13 | g.23355296T>C | CA387549055 | SACS | c.1316A>G (p.Asp439Gly) n.1454A>G c.1307A>G (p.Asp436Gly) n.3673A>G c.-935A>G (n.-935A>G) c.188A>G (p.Asp63Gly) c.1014A>G c.875A>G (p.Asp292Gly) c.1340A>G (p.Asp447Gly) | dbSNP |
13 | g.23355296T>G | CA387549058 | SACS | c.1316A>C (p.Asp439Ala) n.1454A>C c.1307A>C (p.Asp436Ala) n.3673A>C c.-935A>C (n.-935A>C) c.188A>C (p.Asp63Ala) c.1014A>C c.875A>C (p.Asp292Ala) c.1340A>C (p.Asp447Ala) | |
13 | g.23355296T= | CA2078658474 | SACS | c.1316A= (p.Asp439=) n.1454A= c.1307A= (p.Asp436=) n.3673A= c.-935A= (n.-935A=) c.188A= (p.Asp63=) c.1014A= c.875A= (p.Asp292=) c.1340A= (p.Asp447=) | |
13 | g.23355297C>A | CA6911928 | SACS | c.1315G>T (p.Asp439Tyr) n.1453G>T c.1306G>T (p.Asp436Tyr) n.3672G>T c.-936G>T (n.-936G>T) c.187G>T (p.Asp63Tyr) c.1013G>T c.874G>T (p.Asp292Tyr) c.1339G>T (p.Asp447Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23355297C= | CA2078658477 | SACS | c.1315G= (p.Asp439=) n.1453G= c.1306G= (p.Asp436=) n.3672G= c.-936G= (n.-936G=) c.187G= (p.Asp63=) c.1013G= c.874G= (p.Asp292=) c.1339G= (p.Asp447=) |