UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.38606013C>A | CA352148565 | SCN5A | c.1276G>T (p.Glu426Ter) c.1147G>T (p.Glu383Ter) | dbSNP |
| 3 | g.38606013C= | CA1358585944 | SCN5A | c.1276G= (p.Glu426=) c.1147G= (p.Glu383=) | |
| 3 | g.38606013C>G | CA352148567 | SCN5A | c.1276G>C (p.Glu426Gln) c.1147G>C (p.Glu383Gln) | |
| 3 | g.38606013C>T | CA352148569 | SCN5A | c.1276G>A (p.Glu426Lys) c.1147G>A (p.Glu383Lys) | |
| 3 | g.38606014A>C | CA433137558 | SCN5A | c.1275T>G (p.Ala425=) c.1146T>G (p.Ala382=) | |
| 3 | g.38606014A>G | CA433137559 | SCN5A | c.1275T>C (p.Ala425=) c.1146T>C (p.Ala382=) | |
| 3 | g.38606014A>T | CA433137560 | SCN5A | c.1275T>A (p.Ala425=) c.1146T>A (p.Ala382=) | |
| 3 | g.38606015G>A | CA352148573 | SCN5A | c.1274C>T (p.Ala425Val) c.1145C>T (p.Ala382Val) | |
| 3 | g.38606015G>C | CA352148571 | SCN5A | c.1274C>G (p.Ala425Gly) c.1145C>G (p.Ala382Gly) | |
| 3 | g.38606015G>T | CA352148570 | SCN5A | c.1274C>A (p.Ala425Asp) c.1145C>A (p.Ala382Asp) | |
| 3 | g.38606016C>A | CA352148576 | SCN5A | c.1273G>T (p.Ala425Ser) c.1144G>T (p.Ala382Ser) | |
| 3 | g.38606016C= | CA1358585945 | SCN5A | c.1273G= (p.Ala425=) c.1144G= (p.Ala382=) | |
| 3 | g.38606016C>G | CA057417 | SCN5A | c.1273G>C (p.Ala425Pro) c.1144G>C (p.Ala382Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606016C>T | CA014623 | SCN5A | c.1273G>A (p.Ala425Thr) c.1144G>A (p.Ala382Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606017G>A | CA057412 | SCN5A | c.1272C>T (p.Ile424=) c.1143C>T (p.Ile381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606017G>C | CA057406 | SCN5A | c.1272C>G (p.Ile424Met) c.1143C>G (p.Ile381Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606017G= | CA1358585946 | SCN5A | c.1272C= (p.Ile424=) c.1143C= (p.Ile381=) | |
| 3 | g.38606017G>T | CA433137562 | SCN5A | c.1272C>A (p.Ile424=) c.1143C>A (p.Ile381=) | |
| 3 | g.38606018A>C | CA352148588 | SCN5A | c.1271T>G (p.Ile424Ser) c.1142T>G (p.Ile381Ser) | |
| 3 | g.38606018A>G | CA352148586 | SCN5A | c.1271T>C (p.Ile424Thr) c.1142T>C (p.Ile381Thr) | |
| 3 | g.38606018A>T | CA352148584 | SCN5A | c.1271T>A (p.Ile424Asn) c.1142T>A (p.Ile381Asn) | |
| 3 | g.38606019T>A | CA352148590 | SCN5A | c.1270A>T (p.Ile424Phe) c.1141A>T (p.Ile381Phe) | |
| 3 | g.38606019T>C | CA352148592 | SCN5A | c.1270A>G (p.Ile424Val) c.1141A>G (p.Ile381Val) | gnomAD v4 |
| 3 | g.38606019T>G | CA352148594 | SCN5A | c.1270A>C (p.Ile424Leu) c.1141A>C (p.Ile381Leu) | |
| 3 | g.38606020G>A | CA433137563 | SCN5A | c.1269C>T (p.Thr423=) c.1140C>T (p.Thr380=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606020G>C | CA433137564 | SCN5A | c.1269C>G (p.Thr423=) c.1140C>G (p.Thr380=) | |
| 3 | g.38606020G>T | CA433137565 | SCN5A | c.1269C>A (p.Thr423=) c.1140C>A (p.Thr380=) | |
| 3 | g.38606021G>A | CA352148597 | SCN5A | c.1268C>T (p.Thr423Ile) c.1139C>T (p.Thr380Ile) | dbSNP gnomAD v4 |
| 3 | g.38606021G>C | CA352148598 | SCN5A | c.1268C>G (p.Thr423Ser) c.1139C>G (p.Thr380Ser) | |
| 3 | g.38606021G= | CA1358585947 | SCN5A | c.1268C= (p.Thr423=) c.1139C= (p.Thr380=) | |
| 3 | g.38606021G>T | CA352148599 | SCN5A | c.1268C>A (p.Thr423Asn) c.1139C>A (p.Thr380Asn) | |
| 3 | g.38606022T>A | CA352148601 | SCN5A | c.1267A>T (p.Thr423Ser) c.1138A>T (p.Thr380Ser) | |
| 3 | g.38606022T>C | CA352148605 | SCN5A | c.1267A>G (p.Thr423Ala) c.1138A>G (p.Thr380Ala) | gnomAD v4 |
| 3 | g.38606022T>G | CA352148603 | SCN5A | c.1267A>C (p.Thr423Pro) c.1138A>C (p.Thr380Pro) | dbSNP |
| 3 | g.38606022T= | CA1358585948 | SCN5A | c.1267A= (p.Thr423=) c.1138A= (p.Thr380=) | |
| 3 | g.38606023G>A | CA433137566 | SCN5A | c.1266C>T (p.Ala422=) c.1137C>T (p.Ala379=) | ClinVar dbSNP |
| 3 | g.38606023G>C | CA433137567 | SCN5A | c.1266C>G (p.Ala422=) c.1137C>G (p.Ala379=) | |
| 3 | g.38606023G>T | CA433137568 | SCN5A | c.1266C>A (p.Ala422=) c.1137C>A (p.Ala379=) | |
| 3 | g.38606024G>A | CA352148607 | SCN5A | c.1265C>T (p.Ala422Val) c.1136C>T (p.Ala379Val) | |
| 3 | g.38606024G>C | CA352148608 | SCN5A | c.1265C>G (p.Ala422Gly) c.1136C>G (p.Ala379Gly) | gnomAD v4 |
| 3 | g.38606024G>T | CA352148610 | SCN5A | c.1265C>A (p.Ala422Asp) c.1136C>A (p.Ala379Asp) | |
| 3 | g.38606025C>A | CA352148611 | SCN5A | c.1264G>T (p.Ala422Ser) c.1135G>T (p.Ala379Ser) | |
| 3 | g.38606025C>G | CA352148613 | SCN5A | c.1264G>C (p.Ala422Pro) c.1135G>C (p.Ala379Pro) | |
| 3 | g.38606025C>T | CA352148615 | SCN5A | c.1264G>A (p.Ala422Thr) c.1135G>A (p.Ala379Thr) | ClinVar dbSNP |
| 3 | g.38606026T>A | CA352148617 | SCN5A | c.1263A>T (p.Gln421His) c.1134A>T (p.Gln378His) | |
| 3 | g.38606026T>C | CA433137569 | SCN5A | c.1263A>G (p.Gln421=) c.1134A>G (p.Gln378=) | |
| 3 | g.38606026T>G | CA352148619 | SCN5A | c.1263A>C (p.Gln421His) c.1134A>C (p.Gln378His) | |
| 3 | g.38606027T>A | CA352148621 | SCN5A | c.1262A>T (p.Gln421Leu) c.1133A>T (p.Gln378Leu) | |
| 3 | g.38606027T>C | CA352148623 | SCN5A | c.1262A>G (p.Gln421Arg) c.1133A>G (p.Gln378Arg) | |
| 3 | g.38606027T>G | CA352148625 | SCN5A | c.1262A>C (p.Gln421Pro) c.1133A>C (p.Gln378Pro) | ClinVar dbSNP |
| 3 | g.38606027T= | CA1358585949 | SCN5A | c.1262A= (p.Gln421=) c.1133A= (p.Gln378=) | |
| 3 | g.38606028G>A | CA72940336 | SCN5A | c.1261C>T (p.Gln421Ter) c.1132C>T (p.Gln378Ter) | dbSNP |
| 3 | g.38606028G>C | CA352148628 | SCN5A | c.1261C>G (p.Gln421Glu) c.1132C>G (p.Gln378Glu) | |
| 3 | g.38606028G= | CA1358585950 | SCN5A | c.1261C= (p.Gln421=) c.1132C= (p.Gln378=) | |
| 3 | g.38606028G>T | CA352148627 | SCN5A | c.1261C>A (p.Gln421Lys) c.1132C>A (p.Gln378Lys) | |
| 3 | g.38606029G>A | CA433137570 | SCN5A | c.1260C>T (p.Asn420=) c.1131C>T (p.Asn377=) | |
| 3 | g.38606029G>C | CA352148632 | SCN5A | c.1260C>G (p.Asn420Lys) c.1131C>G (p.Asn377Lys) | |
| 3 | g.38606029G>T | CA352148631 | SCN5A | c.1260C>A (p.Asn420Lys) c.1131C>A (p.Asn377Lys) | |
| 3 | g.38606030T>A | CA352148634 | SCN5A | c.1259A>T (p.Asn420Ile) c.1130A>T (p.Asn377Ile) | |
| 3 | g.38606030T>C | CA352148635 | SCN5A | c.1259A>G (p.Asn420Ser) c.1130A>G (p.Asn377Ser) | |
| 3 | g.38606030T>G | CA352148636 | SCN5A | c.1259A>C (p.Asn420Thr) c.1130A>C (p.Asn377Thr) | |
| 3 | g.38606031T>A | CA352148637 | SCN5A | c.1258A>T (p.Asn420Tyr) c.1129A>T (p.Asn377Tyr) | |
| 3 | g.38606031T>C | CA352148638 | SCN5A | c.1258A>G (p.Asn420Asp) c.1129A>G (p.Asn377Asp) | |
| 3 | g.38606031T>G | CA352148640 | SCN5A | c.1258A>C (p.Asn420His) c.1129A>C (p.Asn377His) | |
| 3 | g.38606032T>A | CA352148643 | SCN5A | c.1257A>T (p.Gln419His) c.1128A>T (p.Gln376His) | |
| 3 | g.38606032T>C | CA433137571 | SCN5A | c.1257A>G (p.Gln419=) c.1128A>G (p.Gln376=) | |
| 3 | g.38606032T>G | CA352148645 | SCN5A | c.1257A>C (p.Gln419His) c.1128A>C (p.Gln376His) | |
| 3 | g.38606033T>A | CA352148647 | SCN5A | c.1256A>T (p.Gln419Leu) c.1127A>T (p.Gln376Leu) | |
| 3 | g.38606033T>C | CA352148648 | SCN5A | c.1256A>G (p.Gln419Arg) c.1127A>G (p.Gln376Arg) | |
| 3 | g.38606033T>G | CA16604921 | SCN5A | c.1256A>C (p.Gln419Pro) c.1127A>C (p.Gln376Pro) | ClinVar dbSNP |
| 3 | g.38606033T= | CA1358585951 | SCN5A | c.1256A= (p.Gln419=) c.1127A= (p.Gln376=) | |
| 3 | g.38606034G>A | CA16043398 | SCN5A | c.1255C>T (p.Gln419Ter) c.1126C>T (p.Gln376Ter) | ClinVar dbSNP |
| 3 | g.38606034G>C | CA352148654 | SCN5A | c.1255C>G (p.Gln419Glu) c.1126C>G (p.Gln376Glu) | ClinVar dbSNP |
| 3 | g.38606034G= | CA1358585952 | SCN5A | c.1255C= (p.Gln419=) c.1126C= (p.Gln376=) | |
| 3 | g.38606034G>T | CA352148651 | SCN5A | c.1255C>A (p.Gln419Lys) c.1126C>A (p.Gln376Lys) | |
| 3 | g.38606035C>A | CA352148656 | SCN5A | c.1254G>T (p.Glu418Asp) c.1125G>T (p.Glu375Asp) | |
| 3 | g.38606035C>G | CA352148658 | SCN5A | c.1254G>C (p.Glu418Asp) c.1125G>C (p.Glu375Asp) | |
| 3 | g.38606035C>T | CA433137572 | SCN5A | c.1254G>A (p.Glu418=) c.1125G>A (p.Glu375=) | gnomAD v4 |
| 3 | g.38606036T>A | CA352148660 | SCN5A | c.1253A>T (p.Glu418Val) c.1124A>T (p.Glu375Val) | |
| 3 | g.38606036T>C | CA352148661 | SCN5A | c.1253A>G (p.Glu418Gly) c.1124A>G (p.Glu375Gly) | ClinVar |
| 3 | g.38606036T>G | CA352148664 | SCN5A | c.1253A>C (p.Glu418Ala) c.1124A>C (p.Glu375Ala) | |
| 3 | g.38606037C>A | CA352012 | SCN5A | c.1252G>T (p.Glu418Ter) c.1123G>T (p.Glu375Ter) | ClinVar dbSNP |
| 3 | g.38606037C= | CA1358585953 | SCN5A | c.1252G= (p.Glu418=) c.1123G= (p.Glu375=) | |
| 3 | g.38606037C>G | CA352148666 | SCN5A | c.1252G>C (p.Glu418Gln) c.1123G>C (p.Glu375Gln) | |
| 3 | g.38606037C>T | CA352148668 | SCN5A | c.1252G>A (p.Glu418Lys) c.1123G>A (p.Glu375Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606038C>A | CA352148671 | SCN5A | c.1251G>T (p.Glu417Asp) c.1122G>T (p.Glu374Asp) | |
| 3 | g.38606038C>G | CA352148673 | SCN5A | c.1251G>C (p.Glu417Asp) c.1122G>C (p.Glu374Asp) | |
| 3 | g.38606038C>T | CA433137573 | SCN5A | c.1251G>A (p.Glu417=) c.1122G>A (p.Glu374=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38606039T>A | CA352148674 | SCN5A | c.1250A>T (p.Glu417Val) c.1121A>T (p.Glu374Val) | |
| 3 | g.38606039T>C | CA352148676 | SCN5A | c.1250A>G (p.Glu417Gly) c.1121A>G (p.Glu374Gly) | |
| 3 | g.38606039T>G | CA352148678 | SCN5A | c.1250A>C (p.Glu417Ala) c.1121A>C (p.Glu374Ala) | |
| 3 | g.38606040C>A | CA352148684 | SCN5A | c.1249G>T (p.Glu417Ter) c.1120G>T (p.Glu374Ter) | dbSNP |
| 3 | g.38606040C= | CA1358585954 | SCN5A | c.1249G= (p.Glu417=) c.1120G= (p.Glu374=) | |
| 3 | g.38606040C>G | CA352148683 | SCN5A | c.1249G>C (p.Glu417Gln) c.1120G>C (p.Glu374Gln) | |
| 3 | g.38606040C>T | CA352148680 | SCN5A | c.1249G>A (p.Glu417Lys) c.1120G>A (p.Glu374Lys) | |
| 3 | g.38606041A>C | CA352148686 | SCN5A | c.1248T>G (p.Tyr416Ter) c.1119T>G (p.Tyr373Ter) | |
| 3 | g.38606041A>G | CA433137574 | SCN5A | c.1248T>C (p.Tyr416=) c.1119T>C (p.Tyr373=) | |
| 3 | g.38606041A>T | CA352148687 | SCN5A | c.1248T>A (p.Tyr416Ter) c.1119T>A (p.Tyr373Ter) | |
| 3 | g.38606042T>A | CA352148688 | SCN5A | c.1247A>T (p.Tyr416Phe) c.1118A>T (p.Tyr373Phe) | |
| 3 | g.38606042T>C | CA014608 | SCN5A | c.1247A>G (p.Tyr416Cys) c.1118A>G (p.Tyr373Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606042T>G | CA352148690 | SCN5A | c.1247A>C (p.Tyr416Ser) c.1118A>C (p.Tyr373Ser) | |
| 3 | g.38606042T= | CA1358585955 | SCN5A | c.1247A= (p.Tyr416=) c.1118A= (p.Tyr373=) | |
| 3 | g.38606043del | CA2580069740 | SCN5A | c.1246del (p.Tyr416MetfsTer?) c.1117del (p.Tyr373MetfsTer?) | ClinVar |
| 3 | g.38606043A>C | CA352148692 | SCN5A | c.1246T>G (p.Tyr416Asp) c.1117T>G (p.Tyr373Asp) | |
| 3 | g.38606043A>G | CA352148694 | SCN5A | c.1246T>C (p.Tyr416His) c.1117T>C (p.Tyr373His) | |
| 3 | g.38606043A>T | CA352148696 | SCN5A | c.1246T>A (p.Tyr416Asn) c.1117T>A (p.Tyr373Asn) | |
| 3 | g.38606044G>A | CA433137577 | SCN5A | c.1245C>T (p.Ala415=) c.1116C>T (p.Ala372=) | ClinVar dbSNP |
| 3 | g.38606044G>C | CA433137575 | SCN5A | c.1245C>G (p.Ala415=) c.1116C>G (p.Ala372=) | |
| 3 | g.38606044G>T | CA433137576 | SCN5A | c.1245C>A (p.Ala415=) c.1116C>A (p.Ala372=) | |
| 3 | g.38606045G>A | CA352148698 | SCN5A | c.1244C>T (p.Ala415Val) c.1115C>T (p.Ala372Val) | |
| 3 | g.38606045G>C | CA352148699 | SCN5A | c.1244C>G (p.Ala415Gly) c.1115C>G (p.Ala372Gly) | |
| 3 | g.38606045G>T | CA352148701 | SCN5A | c.1244C>A (p.Ala415Asp) c.1115C>A (p.Ala372Asp) | |
| 3 | g.38606046C>A | CA352148703 | SCN5A | c.1243G>T (p.Ala415Ser) c.1114G>T (p.Ala372Ser) | gnomAD v4 |
| 3 | g.38606046C= | CA1358585956 | SCN5A | c.1243G= (p.Ala415=) c.1114G= (p.Ala372=) | |
| 3 | g.38606046C>G | CA352148705 | SCN5A | c.1243G>C (p.Ala415Pro) c.1114G>C (p.Ala372Pro) | ClinVar dbSNP |
| 3 | g.38606046C>T | CA057393 | SCN5A | c.1243G>A (p.Ala415Thr) c.1114G>A (p.Ala372Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606047C>A | CA352148708 | SCN5A | c.1242G>T (p.Met414Ile) c.1113G>T (p.Met371Ile) | ClinVar |
| 3 | g.38606047C>G | CA352148707 | SCN5A | c.1242G>C (p.Met414Ile) c.1113G>C (p.Met371Ile) | |
| 3 | g.38606047C>T | CA352148706 | SCN5A | c.1242G>A (p.Met414Ile) c.1113G>A (p.Met371Ile) | |
| 3 | g.38606048A>C | CA352148709 | SCN5A | c.1241T>G (p.Met414Arg) c.1112T>G (p.Met371Arg) | |
| 3 | g.38606048A>G | CA352148711 | SCN5A | c.1241T>C (p.Met414Thr) c.1112T>C (p.Met371Thr) | |
| 3 | g.38606048A>T | CA352148712 | SCN5A | c.1241T>A (p.Met414Lys) c.1112T>A (p.Met371Lys) | |
| 3 | g.38606049T>A | CA352148713 | SCN5A | c.1240A>T (p.Met414Leu) c.1111A>T (p.Met371Leu) | |
| 3 | g.38606049T>C | CA352148716 | SCN5A | c.1240A>G (p.Met414Val) c.1111A>G (p.Met371Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606049T>G | CA352148717 | SCN5A | c.1240A>C (p.Met414Leu) c.1111A>C (p.Met371Leu) | |
| 3 | g.38606049T= | CA1358585957 | SCN5A | c.1240A= (p.Met414=) c.1111A= (p.Met371=) | |
| 3 | g.38606050T>A | CA433137580 | SCN5A | c.1239A>T (p.Ala413=) c.1110A>T (p.Ala370=) | |
| 3 | g.38606050T>C | CA433137579 | SCN5A | c.1239A>G (p.Ala413=) c.1110A>G (p.Ala370=) | |
| 3 | g.38606050T>G | CA433137578 | SCN5A | c.1239A>C (p.Ala413=) c.1110A>C (p.Ala370=) | |
| 3 | g.38606051G>A | CA352148719 | SCN5A | c.1238C>T (p.Ala413Val) c.1109C>T (p.Ala370Val) | |
| 3 | g.38606051G>C | CA352148720 | SCN5A | c.1238C>G (p.Ala413Gly) c.1109C>G (p.Ala370Gly) | |
| 3 | g.38606051G= | CA1358585958 | SCN5A | c.1238C= (p.Ala413=) c.1109C= (p.Ala370=) | |
| 3 | g.38606051G>T | CA014593 | SCN5A | c.1238C>A (p.Ala413Glu) c.1109C>A (p.Ala370Glu) | ClinVar dbSNP |
| 3 | g.38606052C>A | CA10576617 | SCN5A | c.1237G>T (p.Ala413Ser) c.1108G>T (p.Ala370Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606052C= | CA1358585959 | SCN5A | c.1237G= (p.Ala413=) c.1108G= (p.Ala370=) | |
| 3 | g.38606052C>G | CA352148724 | SCN5A | c.1237G>C (p.Ala413Pro) c.1108G>C (p.Ala370Pro) | |
| 3 | g.38606052C>T | CA014582 | SCN5A | c.1237G>A (p.Ala413Thr) c.1108G>A (p.Ala370Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606053G>A | CA014570 | SCN5A | c.1236C>T (p.Val412=) c.1107C>T (p.Val369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606053G>C | CA433137581 | SCN5A | c.1236C>G (p.Val412=) c.1107C>G (p.Val369=) | ClinVar |
| 3 | g.38606053G= | CA1358585960 | SCN5A | c.1236C= (p.Val412=) c.1107C= (p.Val369=) | |
| 3 | g.38606053G>T | CA433137582 | SCN5A | c.1236C>A (p.Val412=) c.1107C>A (p.Val369=) | COSMIC |
| 3 | g.38606054A>C | CA352148729 | SCN5A | c.1235T>G (p.Val412Gly) c.1106T>G (p.Val369Gly) | |
| 3 | g.38606054A>G | CA352148730 | SCN5A | c.1235T>C (p.Val412Ala) c.1106T>C (p.Val369Ala) | |
| 3 | g.38606054A>T | CA352148728 | SCN5A | c.1235T>A (p.Val412Asp) c.1106T>A (p.Val369Asp) | |
| 3 | g.38606055C>A | CA352148734 | SCN5A | c.1234G>T (p.Val412Phe) c.1105G>T (p.Val369Phe) | |
| 3 | g.38606055C>G | CA352148732 | SCN5A | c.1234G>C (p.Val412Leu) c.1105G>C (p.Val369Leu) | |
| 3 | g.38606055C>T | CA352148735 | SCN5A | c.1234G>A (p.Val412Ile) c.1105G>A (p.Val369Ile) | |
| 3 | g.38606056del | CA2586971905 | SCN5A | c.1234del (p.Val412SerfsTer?) c.1105del (p.Val369SerfsTer?) | ClinVar |
| 3 | g.38606056C>A | CA433137583 | SCN5A | c.1233G>T (p.Val411=) c.1104G>T (p.Val368=) | ClinVar dbSNP |
| 3 | g.38606056C= | CA1358585961 | SCN5A | c.1233G= (p.Val411=) c.1104G= (p.Val368=) | |
| 3 | g.38606056C>G | CA433137584 | SCN5A | c.1233G>C (p.Val411=) c.1104G>C (p.Val368=) | |
| 3 | g.38606056C>T | CA433137585 | SCN5A | c.1233G>A (p.Val411=) c.1104G>A (p.Val368=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606057A= | CA1358585962 | SCN5A | c.1232T= (p.Val411=) c.1103T= (p.Val368=) | |
| 3 | g.38606057A>C | CA352148736 | SCN5A | c.1232T>G (p.Val411Gly) c.1103T>G (p.Val368Gly) | |
| 3 | g.38606057A>G | CA352148738 | SCN5A | c.1232T>C (p.Val411Ala) c.1103T>C (p.Val368Ala) | dbSNP |
| 3 | g.38606057A>T | CA352148737 | SCN5A | c.1232T>A (p.Val411Glu) c.1103T>A (p.Val368Glu) | |
| 3 | g.38606058C>A | CA352148739 | SCN5A | c.1231G>T (p.Val411Leu) c.1102G>T (p.Val368Leu) | |
| 3 | g.38606058C= | CA1358585963 | SCN5A | c.1231G= (p.Val411=) c.1102G= (p.Val368=) | |
| 3 | g.38606058C>G | CA352148742 | SCN5A | c.1231G>C (p.Val411Leu) c.1102G>C (p.Val368Leu) | |
| 3 | g.38606058C>T | CA014560 | SCN5A | c.1231G>A (p.Val411Met) c.1102G>A (p.Val368Met) | ClinVar dbSNP |
| 3 | g.38606058_38606059delinsCG | CA1358585964 | SCN5A | c.1230_1231delinsCG (p.Ala410=) c.1101_1102delinsCG (p.Ala367=) | |
| 3 | g.38606059G>A | CA057374 | SCN5A | c.1230C>T (p.Ala410=) c.1101C>T (p.Ala367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606059G>C | CA433137586 | SCN5A | c.1230C>G (p.Ala410=) c.1101C>G (p.Ala367=) | |
| 3 | g.38606059G= | CA1358585966 | SCN5A | c.1230C= (p.Ala410=) c.1101C= (p.Ala367=) | |
| 3 | g.38606059G>T | CA433137587 | SCN5A | c.1230C>A (p.Ala410=) c.1101C>A (p.Ala367=) | ClinVar gnomAD v4 |
| 3 | g.38606060del | CA1358585965 | SCN5A | c.1230del (p.Val411TrpfsTer?) c.1101del (p.Val368TrpfsTer?) | ClinVar dbSNP |
| 3 | g.38606060G>A | CA057370 | SCN5A | c.1229C>T (p.Ala410Val) c.1100C>T (p.Ala367Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606060G>C | CA352148747 | SCN5A | c.1229C>G (p.Ala410Gly) c.1100C>G (p.Ala367Gly) | |
| 3 | g.38606060G= | CA1358585967 | SCN5A | c.1229C= (p.Ala410=) c.1100C= (p.Ala367=) | |
| 3 | g.38606060G>T | CA352148752 | SCN5A | c.1229C>A (p.Ala410Asp) c.1100C>A (p.Ala367Asp) | |
| 3 | g.38606061C>A | CA352148754 | SCN5A | c.1228G>T (p.Ala410Ser) c.1099G>T (p.Ala367Ser) | |
| 3 | g.38606061C>G | CA352148757 | SCN5A | c.1228G>C (p.Ala410Pro) c.1099G>C (p.Ala367Pro) | |
| 3 | g.38606061C>T | CA352148759 | SCN5A | c.1228G>A (p.Ala410Thr) c.1099G>A (p.Ala367Thr) | |
| 3 | g.38606062C>A | CA433137588 | SCN5A | c.1227G>T (p.Leu409=) c.1098G>T (p.Leu366=) | |
| 3 | g.38606062C= | CA1358585968 | SCN5A | c.1227G= (p.Leu409=) c.1098G= (p.Leu366=) | |
| 3 | g.38606062C>G | CA433137589 | SCN5A | c.1227G>C (p.Leu409=) c.1098G>C (p.Leu366=) | |
| 3 | g.38606062C>T | CA433137590 | SCN5A | c.1227G>A (p.Leu409=) c.1098G>A (p.Leu366=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606062_38606063insTATG | CA1139655785 | SCN5A | c.1226_1227insCATA (p.Ala410IlefsTer9) c.1097_1098insCATA (p.Ala367IlefsTer9) | ClinVar dbSNP |
| 3 | g.38606063A>C | CA352148761 | SCN5A | c.1226T>G (p.Leu409Arg) c.1097T>G (p.Leu366Arg) | |
| 3 | g.38606063A>G | CA352148763 | SCN5A | c.1226T>C (p.Leu409Pro) c.1097T>C (p.Leu366Pro) | |
| 3 | g.38606063A>T | CA352148764 | SCN5A | c.1226T>A (p.Leu409Gln) c.1097T>A (p.Leu366Gln) | |
| 3 | g.38606063_38606064del | CA2697550810 | SCN5A | c.1225_1226del (p.Leu409GlyfsTer8) c.1096_1097del (p.Leu366GlyfsTer8) | ClinVar |
| 3 | g.38606064G>A | CA433137591 | SCN5A | c.1225C>T (p.Leu409=) c.1096C>T (p.Leu366=) | COSMIC COSMIC COSMIC |
| 3 | g.38606064G>C | CA014550 | SCN5A | c.1225C>G (p.Leu409Val) c.1096C>G (p.Leu366Val) | ClinVar dbSNP |
| 3 | g.38606064G= | CA1358585969 | SCN5A | c.1225C= (p.Leu409=) c.1096C= (p.Leu366=) | |
| 3 | g.38606064G>T | CA352148767 | SCN5A | c.1225C>A (p.Leu409Met) c.1096C>A (p.Leu366Met) | |
| 3 | g.38606065G>A | CA433137592 | SCN5A | c.1224C>T (p.Ile408=) c.1095C>T (p.Ile365=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606065G>C | CA352148770 | SCN5A | c.1224C>G (p.Ile408Met) c.1095C>G (p.Ile365Met) | |
| 3 | g.38606065G>T | CA433137593 | SCN5A | c.1224C>A (p.Ile408=) c.1095C>A (p.Ile365=) | ClinVar |
| 3 | g.38606066A>C | CA352148772 | SCN5A | c.1223T>G (p.Ile408Ser) c.1094T>G (p.Ile365Ser) | |
| 3 | g.38606066A>G | CA352148773 | SCN5A | c.1223T>C (p.Ile408Thr) c.1094T>C (p.Ile365Thr) | |
| 3 | g.38606066A>T | CA352148775 | SCN5A | c.1223T>A (p.Ile408Asn) c.1094T>A (p.Ile365Asn) | |
| 3 | g.38606067T>A | CA352148778 | SCN5A | c.1222A>T (p.Ile408Phe) c.1093A>T (p.Ile365Phe) | |
| 3 | g.38606067T>C | CA352148779 | SCN5A | c.1222A>G (p.Ile408Val) c.1093A>G (p.Ile365Val) | |
| 3 | g.38606067T>G | CA352148780 | SCN5A | c.1222A>C (p.Ile408Leu) c.1093A>C (p.Ile365Leu) | |
| 3 | g.38606068C>A | CA433137595 | SCN5A | c.1221G>T (p.Leu407=) c.1092G>T (p.Leu364=) | ClinVar dbSNP |
| 3 | g.38606068C= | CA1358585970 | SCN5A | c.1221G= (p.Leu407=) c.1092G= (p.Leu364=) | |
| 3 | g.38606068C>G | CA433137596 | SCN5A | c.1221G>C (p.Leu407=) c.1092G>C (p.Leu364=) | ClinVar |
| 3 | g.38606068C>T | CA433137594 | SCN5A | c.1221G>A (p.Leu407=) c.1092G>A (p.Leu364=) | COSMIC COSMIC COSMIC |
| 3 | g.38606069A>C | CA352148781 | SCN5A | c.1220T>G (p.Leu407Arg) c.1091T>G (p.Leu364Arg) | |
| 3 | g.38606069A>G | CA352148783 | SCN5A | c.1220T>C (p.Leu407Pro) c.1091T>C (p.Leu364Pro) | |
| 3 | g.38606069A>T | CA352148785 | SCN5A | c.1220T>A (p.Leu407Gln) c.1091T>A (p.Leu364Gln) | |
| 3 | g.38606070G>A | CA433137597 | SCN5A | c.1219C>T (p.Leu407=) c.1090C>T (p.Leu364=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606070G>C | CA352148786 | SCN5A | c.1219C>G (p.Leu407Val) c.1090C>G (p.Leu364Val) | |
| 3 | g.38606070G= | CA1358585971 | SCN5A | c.1219C= (p.Leu407=) c.1090C= (p.Leu364=) | |
| 3 | g.38606070G>T | CA352148787 | SCN5A | c.1219C>A (p.Leu407Met) c.1090C>A (p.Leu364Met) | |
| 3 | g.38606071G>A | CA057362 | SCN5A | c.1218C>T (p.Asn406=) c.1089C>T (p.Asn363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606071G>C | CA014540 | SCN5A | c.1218C>G (p.Asn406Lys) c.1089C>G (p.Asn363Lys) | ClinVar dbSNP |
| 3 | g.38606071G= | CA1358585972 | SCN5A | c.1218C= (p.Asn406=) c.1089C= (p.Asn363=) | |
| 3 | g.38606071G>T | CA014532 | SCN5A | c.1218C>A (p.Asn406Lys) c.1089C>A (p.Asn363Lys) | ClinVar dbSNP |
| 3 | g.38606072T>A | CA352148790 | SCN5A | c.1217A>T (p.Asn406Ile) c.1088A>T (p.Asn363Ile) | ClinVar |
| 3 | g.38606072T>C | CA014519 | SCN5A | c.1217A>G (p.Asn406Ser) c.1088A>G (p.Asn363Ser) | ClinVar dbSNP |
| 3 | g.38606072T>G | CA352148793 | SCN5A | c.1217A>C (p.Asn406Thr) c.1088A>C (p.Asn363Thr) | |
| 3 | g.38606072T= | CA1358585973 | SCN5A | c.1217A= (p.Asn406=) c.1088A= (p.Asn363=) | |
| 3 | g.38606073T>A | CA352148795 | SCN5A | c.1216A>T (p.Asn406Tyr) c.1087A>T (p.Asn363Tyr) | |
| 3 | g.38606073T>C | CA352148797 | SCN5A | c.1216A>G (p.Asn406Asp) c.1087A>G (p.Asn363Asp) | |
| 3 | g.38606073T>G | CA352148798 | SCN5A | c.1216A>C (p.Asn406His) c.1087A>C (p.Asn363His) | |
| 3 | g.38606074C>A | CA433137600 | SCN5A | c.1215G>T (p.Val405=) c.1086G>T (p.Val362=) | |
| 3 | g.38606074C>G | CA433137599 | SCN5A | c.1215G>C (p.Val405=) c.1086G>C (p.Val362=) | |
| 3 | g.38606074C>T | CA433137598 | SCN5A | c.1215G>A (p.Val405=) c.1086G>A (p.Val362=) | |
| 3 | g.38606075A>C | CA352148800 | SCN5A | c.1214T>G (p.Val405Gly) c.1085T>G (p.Val362Gly) | gnomAD v4 |
| 3 | g.38606075A>G | CA352148801 | SCN5A | c.1214T>C (p.Val405Ala) c.1085T>C (p.Val362Ala) | |
| 3 | g.38606075A>T | CA352148803 | SCN5A | c.1214T>A (p.Val405Glu) c.1085T>A (p.Val362Glu) | |
| 3 | g.38606076C>A | CA352148805 | SCN5A | c.1213G>T (p.Val405Leu) c.1084G>T (p.Val362Leu) | |
| 3 | g.38606076C= | CA1358585974 | SCN5A | c.1213G= (p.Val405=) c.1084G= (p.Val362=) | |
| 3 | g.38606076C>G | CA352148807 | SCN5A | c.1213G>C (p.Val405Leu) c.1084G>C (p.Val362Leu) | ClinVar dbSNP |
| 3 | g.38606076C>T | CA352148809 | SCN5A | c.1213G>A (p.Val405Met) c.1084G>A (p.Val362Met) | |
| 3 | g.38606077C>A | CA433137601 | SCN5A | c.1212G>T (p.Leu404=) c.1083G>T (p.Leu361=) | ClinVar dbSNP |
| 3 | g.38606077C= | CA1358585975 | SCN5A | c.1212G= (p.Leu404=) c.1083G= (p.Leu361=) | |
| 3 | g.38606077C>G | CA433137602 | SCN5A | c.1212G>C (p.Leu404=) c.1083G>C (p.Leu361=) | dbSNP |
| 3 | g.38606077C>T | CA433137603 | SCN5A | c.1212G>A (p.Leu404=) c.1083G>A (p.Leu361=) | |
| 3 | g.38606078A= | CA1358585976 | SCN5A | c.1211T= (p.Leu404=) c.1082T= (p.Leu361=) | |
| 3 | g.38606078A>C | CA352148814 | SCN5A | c.1211T>G (p.Leu404Arg) c.1082T>G (p.Leu361Arg) | |
| 3 | g.38606078A>G | CA352148811 | SCN5A | c.1211T>C (p.Leu404Pro) c.1082T>C (p.Leu361Pro) | |
| 3 | g.38606078A>T | CA014506 | SCN5A | c.1211T>A (p.Leu404Gln) c.1082T>A (p.Leu361Gln) | ClinVar dbSNP |
| 3 | g.38606079G>A | CA433137604 | SCN5A | c.1210C>T (p.Leu404=) c.1081C>T (p.Leu361=) | gnomAD v4 |
| 3 | g.38606079G>C | CA057353 | SCN5A | c.1210C>G (p.Leu404Val) c.1081C>G (p.Leu361Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606079G= | CA1358585977 | SCN5A | c.1210C= (p.Leu404=) c.1081C= (p.Leu361=) | |
| 3 | g.38606079G>T | CA352148817 | SCN5A | c.1210C>A (p.Leu404Met) c.1081C>A (p.Leu361Met) | |
| 3 | g.38606080G>A | CA433137605 | SCN5A | c.1209C>T (p.Tyr403=) c.1080C>T (p.Tyr360=) | ClinVar dbSNP |
| 3 | g.38606080G>C | CA352148818 | SCN5A | c.1209C>G (p.Tyr403Ter) c.1080C>G (p.Tyr360Ter) | |
| 3 | g.38606080G= | CA1358585978 | SCN5A | c.1209C= (p.Tyr403=) c.1080C= (p.Tyr360=) | |
| 3 | g.38606080G>T | CA352148820 | SCN5A | c.1209C>A (p.Tyr403Ter) c.1080C>A (p.Tyr360Ter) | |
| 3 | g.38606081T>A | CA352148823 | SCN5A | c.1208A>T (p.Tyr403Phe) c.1079A>T (p.Tyr360Phe) | |
| 3 | g.38606081T>C | CA352148825 | SCN5A | c.1208A>G (p.Tyr403Cys) c.1079A>G (p.Tyr360Cys) | |
| 3 | g.38606081T>G | CA352148826 | SCN5A | c.1208A>C (p.Tyr403Ser) c.1079A>C (p.Tyr360Ser) | |
| 3 | g.38606082A>C | CA352148827 | SCN5A | c.1207T>G (p.Tyr403Asp) c.1078T>G (p.Tyr360Asp) | |
| 3 | g.38606082A>G | CA352148828 | SCN5A | c.1207T>C (p.Tyr403His) c.1078T>C (p.Tyr360His) | |
| 3 | g.38606082A>T | CA352148830 | SCN5A | c.1207T>A (p.Tyr403Asn) c.1078T>A (p.Tyr360Asn) | |
| 3 | g.38606083G>A | CA433137606 | SCN5A | c.1206C>T (p.Phe402=) c.1077C>T (p.Phe359=) | |
| 3 | g.38606083G>C | CA057346 | SCN5A | c.1206C>G (p.Phe402Leu) c.1077C>G (p.Phe359Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606083G= | CA1358585979 | SCN5A | c.1206C= (p.Phe402=) c.1077C= (p.Phe359=) | |
| 3 | g.38606083G>T | CA352148833 | SCN5A | c.1206C>A (p.Phe402Leu) c.1077C>A (p.Phe359Leu) | |
| 3 | g.38606084A>C | CA352148838 | SCN5A | c.1205T>G (p.Phe402Cys) c.1076T>G (p.Phe359Cys) | |
| 3 | g.38606084A>G | CA352148839 | SCN5A | c.1205T>C (p.Phe402Ser) c.1076T>C (p.Phe359Ser) | COSMIC COSMIC COSMIC |
| 3 | g.38606084A>T | CA352148836 | SCN5A | c.1205T>A (p.Phe402Tyr) c.1076T>A (p.Phe359Tyr) | |
| 3 | g.38606085A>C | CA352148846 | SCN5A | c.1204T>G (p.Phe402Val) c.1075T>G (p.Phe359Val) | |
| 3 | g.38606085A>G | CA352148842 | SCN5A | c.1204T>C (p.Phe402Leu) c.1075T>C (p.Phe359Leu) | |
| 3 | g.38606085A>T | CA352148844 | SCN5A | c.1204T>A (p.Phe402Ile) c.1075T>A (p.Phe359Ile) | |
| 3 | g.38606086G>A | CA433137607 | SCN5A | c.1203C>T (p.Ser401=) c.1074C>T (p.Ser358=) | |
| 3 | g.38606086G>C | CA433137608 | SCN5A | c.1203C>G (p.Ser401=) c.1074C>G (p.Ser358=) | |
| 3 | g.38606086G>T | CA433137609 | SCN5A | c.1203C>A (p.Ser401=) c.1074C>A (p.Ser358=) | |
| 3 | g.38606087G>A | CA352148848 | SCN5A | c.1202C>T (p.Ser401Phe) c.1073C>T (p.Ser358Phe) | |
| 3 | g.38606087G>C | CA352148850 | SCN5A | c.1202C>G (p.Ser401Cys) c.1073C>G (p.Ser358Cys) | |
| 3 | g.38606087G>T | CA352148852 | SCN5A | c.1202C>A (p.Ser401Tyr) c.1073C>A (p.Ser358Tyr) | |
| 3 | g.38606088A>C | CA352148856 | SCN5A | c.1201T>G (p.Ser401Ala) c.1072T>G (p.Ser358Ala) | |
| 3 | g.38606088A>G | CA352148859 | SCN5A | c.1201T>C (p.Ser401Pro) c.1072T>C (p.Ser358Pro) | |
| 3 | g.38606088A>T | CA352148861 | SCN5A | c.1201T>A (p.Ser401Thr) c.1072T>A (p.Ser358Thr) | |
| 3 | g.38606089C>A | CA433137610 | SCN5A | c.1200G>T (p.Gly400=) c.1071G>T (p.Gly357=) | |
| 3 | g.38606089C= | CA1358585980 | SCN5A | c.1200G= (p.Gly400=) c.1071G= (p.Gly357=) | |
| 3 | g.38606089C>G | CA433137611 | SCN5A | c.1200G>C (p.Gly400=) c.1071G>C (p.Gly357=) | |
| 3 | g.38606089C>T | CA72940376 | SCN5A | c.1200G>A (p.Gly400=) c.1071G>A (p.Gly357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606092del | CA1139771934 | SCN5A | c.1200del (p.Ser401ProfsTer5) c.1071del (p.Ser358ProfsTer5) | |
| 3 | g.38606090C>A | CA352148863 | SCN5A | c.1199G>T (p.Gly400Val) c.1070G>T (p.Gly357Val) | |
| 3 | g.38606090C= | CA1358585981 | SCN5A | c.1199G= (p.Gly400=) c.1070G= (p.Gly357=) | |
| 3 | g.38606090C>G | CA014496 | SCN5A | c.1199G>C (p.Gly400Ala) c.1070G>C (p.Gly357Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606090C>T | CA352148866 | SCN5A | c.1199G>A (p.Gly400Glu) c.1070G>A (p.Gly357Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606091C>A | CA352148870 | SCN5A | c.1198G>T (p.Gly400Trp) c.1069G>T (p.Gly357Trp) | ClinVar dbSNP |
| 3 | g.38606091C= | CA1358585982 | SCN5A | c.1198G= (p.Gly400=) c.1069G= (p.Gly357=) | |
| 3 | g.38606091C>G | CA352148872 | SCN5A | c.1198G>C (p.Gly400Arg) c.1069G>C (p.Gly357Arg) | |
| 3 | g.38606091C>T | CA352148874 | SCN5A | c.1198G>A (p.Gly400Arg) c.1069G>A (p.Gly357Arg) | ClinVar dbSNP |
| 3 | g.38606092C>A | CA433137613 | SCN5A | c.1197G>T (p.Leu399=) c.1068G>T (p.Leu356=) | |
| 3 | g.38606092C= | CA1358585983 | SCN5A | c.1197G= (p.Leu399=) c.1068G= (p.Leu356=) | |
| 3 | g.38606092C>G | CA433137614 | SCN5A | c.1197G>C (p.Leu399=) c.1068G>C (p.Leu356=) | |
| 3 | g.38606092C>T | CA72940381 | SCN5A | c.1197G>A (p.Leu399=) c.1068G>A (p.Leu356=) | ClinVar dbSNP |
| 3 | g.38606093A>C | CA352148879 | SCN5A | c.1196T>G (p.Leu399Arg) c.1067T>G (p.Leu356Arg) | |
| 3 | g.38606093A>G | CA352148880 | SCN5A | c.1196T>C (p.Leu399Pro) c.1067T>C (p.Leu356Pro) | |
| 3 | g.38606093A>T | CA352148885 | SCN5A | c.1196T>A (p.Leu399Gln) c.1067T>A (p.Leu356Gln) | |
| 3 | g.38606094G>A | CA014484 | SCN5A | c.1195C>T (p.Leu399=) c.1066C>T (p.Leu356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606094G>C | CA352148888 | SCN5A | c.1195C>G (p.Leu399Val) c.1066C>G (p.Leu356Val) | |
| 3 | g.38606094G= | CA1358585984 | SCN5A | c.1195C= (p.Leu399=) c.1066C= (p.Leu356=) | |
| 3 | g.38606094G>T | CA352148890 | SCN5A | c.1195C>A (p.Leu399Met) c.1066C>A (p.Leu356Met) | ClinVar dbSNP |
| 3 | g.38606095G>A | CA433137618 | SCN5A | c.1194C>T (p.Phe398=) c.1065C>T (p.Phe355=) | COSMIC COSMIC COSMIC |
| 3 | g.38606095G>C | CA352148892 | SCN5A | c.1194C>G (p.Phe398Leu) c.1065C>G (p.Phe355Leu) | |
| 3 | g.38606095G>T | CA352148893 | SCN5A | c.1194C>A (p.Phe398Leu) c.1065C>A (p.Phe355Leu) | |
| 3 | g.38606096A>C | CA352148896 | SCN5A | c.1193T>G (p.Phe398Cys) c.1064T>G (p.Phe355Cys) | COSMIC COSMIC COSMIC |
| 3 | g.38606096A>G | CA352148897 | SCN5A | c.1193T>C (p.Phe398Ser) c.1064T>C (p.Phe355Ser) | |
| 3 | g.38606096A>T | CA352148899 | SCN5A | c.1193T>A (p.Phe398Tyr) c.1064T>A (p.Phe355Tyr) | |
| 3 | g.38606097A>C | CA352148901 | SCN5A | c.1192T>G (p.Phe398Val) c.1063T>G (p.Phe355Val) | |
| 3 | g.38606097A>G | CA352148903 | SCN5A | c.1192T>C (p.Phe398Leu) c.1063T>C (p.Phe355Leu) | |
| 3 | g.38606097A>T | CA352148904 | SCN5A | c.1192T>A (p.Phe398Ile) c.1063T>A (p.Phe355Ile) | |
| 3 | g.38606098G>A | CA433137619 | SCN5A | c.1191C>T (p.Ile397=) c.1062C>T (p.Ile354=) | |
| 3 | g.38606098G>C | CA352148905 | SCN5A | c.1191C>G (p.Ile397Met) c.1062C>G (p.Ile354Met) | |
| 3 | g.38606098G>T | CA433137620 | SCN5A | c.1191C>A (p.Ile397=) c.1062C>A (p.Ile354=) | |
| 3 | g.38606099A= | CA1358585985 | SCN5A | c.1190T= (p.Ile397=) c.1061T= (p.Ile354=) | |
| 3 | g.38606099A>C | CA352148908 | SCN5A | c.1190T>G (p.Ile397Ser) c.1061T>G (p.Ile354Ser) | |
| 3 | g.38606099A>G | CA014474 | SCN5A | c.1190T>C (p.Ile397Thr) c.1061T>C (p.Ile354Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606099A>T | CA352148907 | SCN5A | c.1190T>A (p.Ile397Asn) c.1061T>A (p.Ile354Asn) | |
| 3 | g.38606100T>A | CA352148910 | SCN5A | c.1189A>T (p.Ile397Phe) c.1060A>T (p.Ile354Phe) | |
| 3 | g.38606100T>C | CA352148912 | SCN5A | c.1189A>G (p.Ile397Val) c.1060A>G (p.Ile354Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606100T>G | CA352148914 | SCN5A | c.1189A>C (p.Ile397Leu) c.1060A>C (p.Ile354Leu) | |
| 3 | g.38606100T= | CA1358585986 | SCN5A | c.1189A= (p.Ile397=) c.1060A= (p.Ile354=) | |
| 3 | g.38606101G>A | CA057331 | SCN5A | c.1188C>T (p.Val396=) c.1059C>T (p.Val353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606101G>C | CA433137621 | SCN5A | c.1188C>G (p.Val396=) c.1059C>G (p.Val353=) | |
| 3 | g.38606101G= | CA1358585987 | SCN5A | c.1188C= (p.Val396=) c.1059C= (p.Val353=) | |
| 3 | g.38606101G>T | CA433137622 | SCN5A | c.1188C>A (p.Val396=) c.1059C>A (p.Val353=) | |
| 3 | g.38606102A= | CA1358585988 | SCN5A | c.1187T= (p.Val396=) c.1058T= (p.Val353=) | |
| 3 | g.38606102A>C | CA352148920 | SCN5A | c.1187T>G (p.Val396Gly) c.1058T>G (p.Val353Gly) | |
| 3 | g.38606102A>G | CA014464 | SCN5A | c.1187T>C (p.Val396Ala) c.1058T>C (p.Val353Ala) | ClinVar dbSNP |
| 3 | g.38606102A>T | CA352148918 | SCN5A | c.1187T>A (p.Val396Asp) c.1058T>A (p.Val353Asp) | |
| 3 | g.38606103C>A | CA352148922 | SCN5A | c.1186G>T (p.Val396Phe) c.1057G>T (p.Val353Phe) | |
| 3 | g.38606103C= | CA1358585989 | SCN5A | c.1186G= (p.Val396=) c.1057G= (p.Val353=) | |
| 3 | g.38606103C>G | CA014455 | SCN5A | c.1186G>C (p.Val396Leu) c.1057G>C (p.Val353Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38606103C>T | CA352148926 | SCN5A | c.1186G>A (p.Val396Ile) c.1057G>A (p.Val353Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606104A>C | CA433137626 | SCN5A | c.1185T>G (p.Leu395=) c.1056T>G (p.Leu352=) | |
| 3 | g.38606104A>G | CA433137625 | SCN5A | c.1185T>C (p.Leu395=) c.1056T>C (p.Leu352=) | |
| 3 | g.38606104A>T | CA433137624 | SCN5A | c.1185T>A (p.Leu395=) c.1056T>A (p.Leu352=) | |
| 3 | g.38606105A>C | CA352148929 | SCN5A | c.1184T>G (p.Leu395Arg) c.1055T>G (p.Leu352Arg) | |
| 3 | g.38606105A>G | CA352148931 | SCN5A | c.1184T>C (p.Leu395Pro) c.1055T>C (p.Leu352Pro) | |
| 3 | g.38606105A>T | CA352148933 | SCN5A | c.1184T>A (p.Leu395His) c.1055T>A (p.Leu352His) | |
| 3 | g.38606106G>A | CA352148935 | SCN5A | c.1183C>T (p.Leu395Phe) c.1054C>T (p.Leu352Phe) | gnomAD v4 |
| 3 | g.38606106G>C | CA352148939 | SCN5A | c.1183C>G (p.Leu395Val) c.1054C>G (p.Leu352Val) | |
| 3 | g.38606106G>T | CA352148937 | SCN5A | c.1183C>A (p.Leu395Ile) c.1054C>A (p.Leu352Ile) | |
| 3 | g.38606107C>A | CA352148941 | SCN5A | c.1182G>T (p.Met394Ile) c.1053G>T (p.Met351Ile) | gnomAD v4 |
| 3 | g.38606107C= | CA1358585990 | SCN5A | c.1182G= (p.Met394=) c.1053G= (p.Met351=) | |
| 3 | g.38606107C>G | CA352148943 | SCN5A | c.1182G>C (p.Met394Ile) c.1053G>C (p.Met351Ile) | |
| 3 | g.38606107C>T | CA352148945 | SCN5A | c.1182G>A (p.Met394Ile) c.1053G>A (p.Met351Ile) | ClinVar dbSNP |
| 3 | g.38606108A>C | CA352148947 | SCN5A | c.1181T>G (p.Met394Arg) c.1052T>G (p.Met351Arg) | |
| 3 | g.38606108A>G | CA352148949 | SCN5A | c.1181T>C (p.Met394Thr) c.1052T>C (p.Met351Thr) | |
| 3 | g.38606108A>T | CA352148950 | SCN5A | c.1181T>A (p.Met394Lys) c.1052T>A (p.Met351Lys) | |
| 3 | g.38606109T>A | CA352148953 | SCN5A | c.1180A>T (p.Met394Leu) c.1051A>T (p.Met351Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606109T>C | CA352148955 | SCN5A | c.1180A>G (p.Met394Val) c.1051A>G (p.Met351Val) | dbSNP |
| 3 | g.38606109T>G | CA352148957 | SCN5A | c.1180A>C (p.Met394Leu) c.1051A>C (p.Met351Leu) | |
| 3 | g.38606109T= | CA1358585991 | SCN5A | c.1180A= (p.Met394=) c.1051A= (p.Met351=) | |
| 3 | g.38606110G>A | CA433137629 | SCN5A | c.1179C>T (p.Phe393=) c.1050C>T (p.Phe350=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606110G>C | CA352148959 | SCN5A | c.1179C>G (p.Phe393Leu) c.1050C>G (p.Phe350Leu) | |
| 3 | g.38606110G= | CA1358585992 | SCN5A | c.1179C= (p.Phe393=) c.1050C= (p.Phe350=) | |
| 3 | g.38606110G>T | CA352148961 | SCN5A | c.1179C>A (p.Phe393Leu) c.1050C>A (p.Phe350Leu) | |
| 3 | g.38606115_38606117dup | CA2580614209 | SCN5A | c.1177_1179dup (p.Phe393_Met394insPhe) c.1048_1050dup (p.Phe350_Met351insPhe) | ClinVar dbSNP |
| 3 | g.38606115_38606117del | CA913102797 | SCN5A | c.1177_1179del (p.Phe393del) c.1048_1050del (p.Phe350del) | gnomAD v4 |
| 3 | g.38606111A>C | CA352148967 | SCN5A | c.1178T>G (p.Phe393Cys) c.1049T>G (p.Phe350Cys) | |
| 3 | g.38606111A>G | CA352148965 | SCN5A | c.1178T>C (p.Phe393Ser) c.1049T>C (p.Phe350Ser) | |
| 3 | g.38606111A>T | CA352148963 | SCN5A | c.1178T>A (p.Phe393Tyr) c.1049T>A (p.Phe350Tyr) | |
| 3 | g.38606112A>C | CA352148970 | SCN5A | c.1177T>G (p.Phe393Val) c.1048T>G (p.Phe350Val) | ClinVar |
| 3 | g.38606112A>G | CA352148974 | SCN5A | c.1177T>C (p.Phe393Leu) c.1048T>C (p.Phe350Leu) | |
| 3 | g.38606112A>T | CA352148972 | SCN5A | c.1177T>A (p.Phe393Ile) c.1048T>A (p.Phe350Ile) |