Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73323298C>A | CA393087957 | HCN4 | c.2795G>T (p.Gly932Val) c.1577G>T (p.Gly526Val) | |
15 | g.73323298C= | CA2187187972 | HCN4 | c.2795G= (p.Gly932=) c.1577G= (p.Gly526=) | |
15 | g.73323298C>G | CA393087960 | HCN4 | c.2795G>C (p.Gly932Ala) c.1577G>C (p.Gly526Ala) | |
15 | g.73323298C>T | CA393087963 | HCN4 | c.2795G>A (p.Gly932Asp) c.1577G>A (p.Gly526Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323299C>A | CA393087966 | HCN4 | c.2794G>T (p.Gly932Cys) c.1576G>T (p.Gly526Cys) | gnomAD v4 |
15 | g.73323299C>G | CA393087968 | HCN4 | c.2794G>C (p.Gly932Arg) c.1576G>C (p.Gly526Arg) | |
15 | g.73323299C>T | CA393087965 | HCN4 | c.2794G>A (p.Gly932Ser) c.1576G>A (p.Gly526Ser) | gnomAD v4 |
15 | g.73323300T>A | CA491478202 | HCN4 | c.2793A>T (p.Pro931=) c.1575A>T (p.Pro525=) | |
15 | g.73323300T>C | CA491478203 | HCN4 | c.2793A>G (p.Pro931=) c.1575A>G (p.Pro525=) | gnomAD v4 |
15 | g.73323300T>G | CA491478204 | HCN4 | c.2793A>C (p.Pro931=) c.1575A>C (p.Pro525=) | |
15 | g.73323301G>A | CA393087970 | HCN4 | c.2792C>T (p.Pro931Leu) c.1574C>T (p.Pro525Leu) | gnomAD v4 |
15 | g.73323301G>C | CA393087972 | HCN4 | c.2792C>G (p.Pro931Arg) c.1574C>G (p.Pro525Arg) | |
15 | g.73323301G>T | CA393087974 | HCN4 | c.2792C>A (p.Pro931Gln) c.1574C>A (p.Pro525Gln) | gnomAD v4 |
15 | g.73323302G>A | CA393087977 | HCN4 | c.2791C>T (p.Pro931Ser) c.1573C>T (p.Pro525Ser) | gnomAD v4 |
15 | g.73323302G>C | CA393087978 | HCN4 | c.2791C>G (p.Pro931Ala) c.1573C>G (p.Pro525Ala) | |
15 | g.73323302G>T | CA393087981 | HCN4 | c.2791C>A (p.Pro931Thr) c.1573C>A (p.Pro525Thr) | gnomAD v4 |
15 | g.73323303C>A | CA393087983 | HCN4 | c.2790G>T (p.Gln930His) c.1572G>T (p.Gln524His) | gnomAD v4 |
15 | g.73323303C>G | CA393087986 | HCN4 | c.2790G>C (p.Gln930His) c.1572G>C (p.Gln524His) | |
15 | g.73323303C>T | CA491478206 | HCN4 | c.2790G>A (p.Gln930=) c.1572G>A (p.Gln524=) | gnomAD v4 |
15 | g.73323304T>A | CA393087990 | HCN4 | c.2789A>T (p.Gln930Leu) c.1571A>T (p.Gln524Leu) | |
15 | g.73323304T>C | CA393087991 | HCN4 | c.2789A>G (p.Gln930Arg) c.1571A>G (p.Gln524Arg) | gnomAD v4 |
15 | g.73323304T>G | CA393087993 | HCN4 | c.2789A>C (p.Gln930Pro) c.1571A>C (p.Gln524Pro) | |
15 | g.73323305G>A | CA393088001 | HCN4 | c.2788C>T (p.Gln930Ter) c.1570C>T (p.Gln524Ter) | ClinVar dbSNP gnomAD v4 |
15 | g.73323305G>C | CA393087999 | HCN4 | c.2788C>G (p.Gln930Glu) c.1570C>G (p.Gln524Glu) | |
15 | g.73323305G= | CA2187187978 | HCN4 | c.2788C= (p.Gln930=) c.1570C= (p.Gln524=) | |
15 | g.73323305G>T | CA393087997 | HCN4 | c.2788C>A (p.Gln930Lys) c.1570C>A (p.Gln524Lys) | gnomAD v4 COSMIC |
15 | g.73323306C>A | CA491478210 | HCN4 | c.2787G>T (p.Leu929=) c.1569G>T (p.Leu523=) | gnomAD v4 |
15 | g.73323306C>G | CA491478212 | HCN4 | c.2787G>C (p.Leu929=) c.1569G>C (p.Leu523=) | |
15 | g.73323306C>T | CA491478213 | HCN4 | c.2787G>A (p.Leu929=) c.1569G>A (p.Leu523=) | gnomAD v4 |
15 | g.73323307A= | CA2187187989 | HCN4 | c.2786T= (p.Leu929=) c.1568T= (p.Leu523=) | |
15 | g.73323307A>C | CA393088004 | HCN4 | c.2786T>G (p.Leu929Arg) c.1568T>G (p.Leu523Arg) | |
15 | g.73323307A>G | CA7648955 | HCN4 | c.2786T>C (p.Leu929Pro) c.1568T>C (p.Leu523Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.73323307A>T | CA393088008 | HCN4 | c.2786T>A (p.Leu929Gln) c.1568T>A (p.Leu523Gln) | |
15 | g.73323308G>A | CA491478215 | HCN4 | c.2785C>T (p.Leu929=) c.1567C>T (p.Leu523=) | gnomAD v4 |
15 | g.73323308G>C | CA393088010 | HCN4 | c.2785C>G (p.Leu929Val) c.1567C>G (p.Leu523Val) | |
15 | g.73323308G>T | CA393088011 | HCN4 | c.2785C>A (p.Leu929Met) c.1567C>A (p.Leu523Met) | gnomAD v4 |
15 | g.73323309C>A | CA491478216 | HCN4 | c.2784G>T (p.Pro928=) c.1566G>T (p.Pro522=) | gnomAD v4 |
15 | g.73323309C= | CA2187187992 | HCN4 | c.2784G= (p.Pro928=) c.1566G= (p.Pro522=) | |
15 | g.73323309C>G | CA491478217 | HCN4 | c.2784G>C (p.Pro928=) c.1566G>C (p.Pro522=) | dbSNP gnomAD v4 |
15 | g.73323309C>T | CA7648956 | HCN4 | c.2784G>A (p.Pro928=) c.1566G>A (p.Pro522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323309_73323310delinsCG | CA2187187993 | HCN4 | c.2783_2784delinsCG (p.Pro928=) c.1565_1566delinsCG (p.Pro522=) | |
15 | g.73323309_73323319delinsCGGGGTGAGCA | CA2187187995 | HCN4 | c.2774_2784delinsTGCTCACCCCG (p.Leu925=) c.1556_1566delinsTGCTCACCCCG (p.Leu519=) | |
15 | g.73323310G>A | CA272664258 | HCN4 | c.2783C>T (p.Pro928Leu) c.1565C>T (p.Pro522Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323310G>C | CA393088017 | HCN4 | c.2783C>G (p.Pro928Arg) c.1565C>G (p.Pro522Arg) | |
15 | g.73323310G= | CA2187188010 | HCN4 | c.2783C= (p.Pro928=) c.1565C= (p.Pro522=) | |
15 | g.73323310G>T | CA393088020 | HCN4 | c.2783C>A (p.Pro928Gln) c.1565C>A (p.Pro522Gln) | gnomAD v4 |
15 | g.73323313del | CA619410581 | HCN4 | c.2783del (p.Pro928ArgfsTer?) c.1565del (p.Pro522ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323314_73323323del | CA7648957 | HCN4 | c.2774_2783del (p.Leu925ArgfsTer?) c.1556_1565del (p.Leu519ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73323311G>A | CA393088024 | HCN4 | c.2782C>T (p.Pro928Ser) c.1564C>T (p.Pro522Ser) | |
15 | g.73323311G>C | CA393088027 | HCN4 | c.2782C>G (p.Pro928Ala) c.1564C>G (p.Pro522Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |