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