Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38605999C>A | CA352148501 | SCN5A | c.1290G>T (p.Lys430Asn) c.1161G>T (p.Lys387Asn) | |
3 | g.38605999C>G | CA352148502 | SCN5A | c.1290G>C (p.Lys430Asn) c.1161G>C (p.Lys387Asn) | |
3 | g.38605999C>T | CA433137547 | SCN5A | c.1290G>A (p.Lys430=) c.1161G>A (p.Lys387=) | |
3 | g.38606000T>A | CA352148504 | SCN5A | c.1289A>T (p.Lys430Met) c.1160A>T (p.Lys387Met) | |
3 | g.38606000T>C | CA352148506 | SCN5A | c.1289A>G (p.Lys430Arg) c.1160A>G (p.Lys387Arg) | |
3 | g.38606000T>G | CA352148508 | SCN5A | c.1289A>C (p.Lys430Thr) c.1160A>C (p.Lys387Thr) | |
3 | g.38606001T>A | CA352148510 | SCN5A | c.1288A>T (p.Lys430Ter) c.1159A>T (p.Lys387Ter) | dbSNP |
3 | g.38606001T>C | CA352148512 | SCN5A | c.1288A>G (p.Lys430Glu) c.1159A>G (p.Lys387Glu) | |
3 | g.38606001T>G | CA352148514 | SCN5A | c.1288A>C (p.Lys430Gln) c.1159A>C (p.Lys387Gln) | |
3 | g.38606001T= | CA1358585938 | SCN5A | c.1288A= (p.Lys430=) c.1159A= (p.Lys387=) | |
3 | g.38606001_38606004delinsTCTC | CA1358585937 | SCN5A | c.1285_1288delinsGAGA (p.Glu429=) c.1156_1159delinsGAGA (p.Glu386=) | |
3 | g.38606002C>A | CA352148519 | SCN5A | c.1287G>T (p.Glu429Asp) c.1158G>T (p.Glu386Asp) | ClinVar dbSNP |
3 | g.38606002C= | CA1358585939 | SCN5A | c.1287G= (p.Glu429=) c.1158G= (p.Glu386=) | |
3 | g.38606002C>G | CA352148521 | SCN5A | c.1287G>C (p.Glu429Asp) c.1158G>C (p.Glu386Asp) | |
3 | g.38606002C>T | CA057438 | SCN5A | c.1287G>A (p.Glu429=) c.1158G>A (p.Glu386=) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.38606005_38606007del | CA057434 | SCN5A | c.1285_1287del (p.Glu429del) c.1156_1158del (p.Glu386del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38606003T>A | CA352148525 | SCN5A | c.1286A>T (p.Glu429Val) c.1157A>T (p.Glu386Val) | |
3 | g.38606003T>C | CA352148523 | SCN5A | c.1286A>G (p.Glu429Gly) c.1157A>G (p.Glu386Gly) | ClinVar dbSNP |
3 | g.38606003T>G | CA352148526 | SCN5A | c.1286A>C (p.Glu429Ala) c.1157A>C (p.Glu386Ala) | |
3 | g.38606004C>A | CA352148528 | SCN5A | c.1285G>T (p.Glu429Ter) c.1156G>T (p.Glu386Ter) | dbSNP |
3 | g.38606004C= | CA1358585940 | SCN5A | c.1285G= (p.Glu429=) c.1156G= (p.Glu386=) | |
3 | g.38606004C>G | CA352148530 | SCN5A | c.1285G>C (p.Glu429Gln) c.1156G>C (p.Glu386Gln) | ClinVar dbSNP |
3 | g.38606004C>T | CA352148532 | SCN5A | c.1285G>A (p.Glu429Lys) c.1156G>A (p.Glu386Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38606005C>A | CA352148534 | SCN5A | c.1284G>T (p.Glu428Asp) c.1155G>T (p.Glu385Asp) | |
3 | g.38606005C>G | CA352148536 | SCN5A | c.1284G>C (p.Glu428Asp) c.1155G>C (p.Glu385Asp) | |
3 | g.38606005C>T | CA433137550 | SCN5A | c.1284G>A (p.Glu428=) c.1155G>A (p.Glu385=) | dbSNP COSMIC COSMIC COSMIC |
3 | g.38606006T>A | CA352148538 | SCN5A | c.1283A>T (p.Glu428Val) c.1154A>T (p.Glu385Val) | |
3 | g.38606006T>C | CA352148540 | SCN5A | c.1283A>G (p.Glu428Gly) c.1154A>G (p.Glu385Gly) | |
3 | g.38606006T>G | CA352148541 | SCN5A | c.1283A>C (p.Glu428Ala) c.1154A>C (p.Glu385Ala) | |
3 | g.38606007C>A | CA352148542 | SCN5A | c.1282G>T (p.Glu428Ter) c.1153G>T (p.Glu385Ter) | dbSNP |
3 | g.38606007C= | CA1358585941 | SCN5A | c.1282G= (p.Glu428=) c.1153G= (p.Glu385=) | |
3 | g.38606007C>G | CA352148543 | SCN5A | c.1282G>C (p.Glu428Gln) c.1153G>C (p.Glu385Gln) | gnomAD v4 |
3 | g.38606007C>T | CA014651 | SCN5A | c.1282G>A (p.Glu428Lys) c.1153G>A (p.Glu385Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38606008G>A | CA014633 | SCN5A | c.1281C>T (p.Thr427=) c.1152C>T (p.Thr384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38606008G>C | CA433137553 | SCN5A | c.1281C>G (p.Thr427=) c.1152C>G (p.Thr384=) | |
3 | g.38606008G= | CA1358585942 | SCN5A | c.1281C= (p.Thr427=) c.1152C= (p.Thr384=) | |
3 | g.38606008G>T | CA433137554 | SCN5A | c.1281C>A (p.Thr427=) c.1152C>A (p.Thr384=) | |
3 | g.38606009G>A | CA352148548 | SCN5A | c.1280C>T (p.Thr427Ile) c.1151C>T (p.Thr384Ile) | |
3 | g.38606009G>C | CA352148544 | SCN5A | c.1280C>G (p.Thr427Ser) c.1151C>G (p.Thr384Ser) | |
3 | g.38606009G= | CA1358585943 | SCN5A | c.1280C= (p.Thr427=) c.1151C= (p.Thr384=) | |
3 | g.38606009G>T | CA352148545 | SCN5A | c.1280C>A (p.Thr427Asn) c.1151C>A (p.Thr384Asn) | ClinVar dbSNP |
3 | g.38606010T>A | CA352148550 | SCN5A | c.1279A>T (p.Thr427Ser) c.1150A>T (p.Thr384Ser) | |
3 | g.38606010T>C | CA352148551 | SCN5A | c.1279A>G (p.Thr427Ala) c.1150A>G (p.Thr384Ala) | |
3 | g.38606010T>G | CA352148553 | SCN5A | c.1279A>C (p.Thr427Pro) c.1150A>C (p.Thr384Pro) | |
3 | g.38606011C>A | CA352148554 | SCN5A | c.1278G>T (p.Glu426Asp) c.1149G>T (p.Glu383Asp) | |
3 | g.38606011C>G | CA352148557 | SCN5A | c.1278G>C (p.Glu426Asp) c.1149G>C (p.Glu383Asp) | |
3 | g.38606011C>T | CA433137557 | SCN5A | c.1278G>A (p.Glu426=) c.1149G>A (p.Glu383=) | |
3 | g.38606012T>A | CA352148560 | SCN5A | c.1277A>T (p.Glu426Val) c.1148A>T (p.Glu383Val) | |
3 | g.38606012T>C | CA352148561 | SCN5A | c.1277A>G (p.Glu426Gly) c.1148A>G (p.Glu383Gly) | |
3 | g.38606012T>G | CA352148563 | SCN5A | c.1277A>C (p.Glu426Ala) c.1148A>C (p.Glu383Ala) |