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