Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73322784T>A | CA393085679 | HCN4 | c.3309A>T (p.Arg1103Ser) c.2091A>T (p.Arg697Ser) | |
15 | g.73322784T>C | CA491477779 | HCN4 | c.3309A>G (p.Arg1103=) c.2091A>G (p.Arg697=) | gnomAD v4 |
15 | g.73322784T>G | CA393085681 | HCN4 | c.3309A>C (p.Arg1103Ser) c.2091A>C (p.Arg697Ser) | |
15 | g.73322784_73322802delinsTCTGCGGAGAGTCTGCGCC | CA2187186704 | HCN4 | c.3291_3309delinsGGCGCAGACTCTCCGCAGA (p.Gly1097=) c.2073_2091delinsGGCGCAGACTCTCCGCAGA (p.Gly691=) | |
15 | g.73322785C>A | CA393085683 | HCN4 | c.3308G>T (p.Arg1103Ile) c.2090G>T (p.Arg697Ile) | gnomAD v4 |
15 | g.73322785C>G | CA393085686 | HCN4 | c.3308G>C (p.Arg1103Thr) c.2090G>C (p.Arg697Thr) | |
15 | g.73322785C>T | CA393085688 | HCN4 | c.3308G>A (p.Arg1103Lys) c.2090G>A (p.Arg697Lys) | |
15 | g.73322786_73322803del | CA7648849 | HCN4 | c.3291_3308del (p.Ala1098_Arg1103del) c.2073_2090del (p.Ala692_Arg697del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73322786T>A | CA393085691 | HCN4 | c.3307A>T (p.Arg1103Ter) c.2089A>T (p.Arg697Ter) | |
15 | g.73322786T>C | CA10583260 | HCN4 | c.3307A>G (p.Arg1103Gly) c.2089A>G (p.Arg697Gly) | ClinVar dbSNP gnomAD v4 |
15 | g.73322786T>G | CA491477780 | HCN4 | c.3307A>C (p.Arg1103=) c.2089A>C (p.Arg697=) | |
15 | g.73322786T= | CA2187186705 | HCN4 | c.3307A= (p.Arg1103=) c.2089A= (p.Arg697=) | |
15 | g.73322787G>A | CA491477781 | HCN4 | c.3306C>T (p.Arg1102=) c.2088C>T (p.Arg696=) | gnomAD v4 |
15 | g.73322787G>C | CA491477782 | HCN4 | c.3306C>G (p.Arg1102=) c.2088C>G (p.Arg696=) | dbSNP gnomAD v2 |
15 | g.73322787G= | CA2187186707 | HCN4 | c.3306C= (p.Arg1102=) c.2088C= (p.Arg696=) | |
15 | g.73322787G>T | CA491477783 | HCN4 | c.3306C>A (p.Arg1102=) c.2088C>A (p.Arg696=) | gnomAD v4 |
15 | g.73322788C>A | CA393085694 | HCN4 | c.3305G>T (p.Arg1102Leu) c.2087G>T (p.Arg696Leu) | gnomAD v4 |
15 | g.73322788C= | CA2187186710 | HCN4 | c.3305G= (p.Arg1102=) c.2087G= (p.Arg696=) | |
15 | g.73322788C>G | CA393085697 | HCN4 | c.3305G>C (p.Arg1102Pro) c.2087G>C (p.Arg696Pro) | |
15 | g.73322788C>T | CA7648850 | HCN4 | c.3305G>A (p.Arg1102His) c.2087G>A (p.Arg696His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322789G>A | CA7648851 | HCN4 | c.3304C>T (p.Arg1102Cys) c.2086C>T (p.Arg696Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322789G>C | CA393085702 | HCN4 | c.3304C>G (p.Arg1102Gly) c.2086C>G (p.Arg696Gly) | |
15 | g.73322789G= | CA2187186712 | HCN4 | c.3304C= (p.Arg1102=) c.2086C= (p.Arg696=) | |
15 | g.73322789G>T | CA393085699 | HCN4 | c.3304C>A (p.Arg1102Ser) c.2086C>A (p.Arg696Ser) | gnomAD v4 |
15 | g.73322789_73322790dup | CA2629370529 | HCN4 | c.3303_3304dup (p.Arg1102ProfsTer?) c.2085_2086dup (p.Arg696ProfsTer?) | gnomAD v4 |
15 | g.73322790G>A | CA491477784 | HCN4 | c.3303C>T (p.Leu1101=) c.2085C>T (p.Leu695=) | gnomAD v4 |
15 | g.73322790G>C | CA491477785 | HCN4 | c.3303C>G (p.Leu1101=) c.2085C>G (p.Leu695=) | |
15 | g.73322790G>T | CA491477786 | HCN4 | c.3303C>A (p.Leu1101=) c.2085C>A (p.Leu695=) | gnomAD v4 |
15 | g.73322791A>C | CA393085704 | HCN4 | c.3302T>G (p.Leu1101Arg) c.2084T>G (p.Leu695Arg) | |
15 | g.73322791A>G | CA393085706 | HCN4 | c.3302T>C (p.Leu1101Pro) c.2084T>C (p.Leu695Pro) | |
15 | g.73322791A>T | CA393085709 | HCN4 | c.3302T>A (p.Leu1101His) c.2084T>A (p.Leu695His) | |
15 | g.73322792G>A | CA393085712 | HCN4 | c.3301C>T (p.Leu1101Phe) c.2083C>T (p.Leu695Phe) | |
15 | g.73322792G>C | CA393085714 | HCN4 | c.3301C>G (p.Leu1101Val) c.2083C>G (p.Leu695Val) | gnomAD v4 |
15 | g.73322792G>T | CA393085716 | HCN4 | c.3301C>A (p.Leu1101Ile) c.2083C>A (p.Leu695Ile) | gnomAD v4 |
15 | g.73322793A>C | CA491477787 | HCN4 | c.3300T>G (p.Thr1100=) c.2082T>G (p.Thr694=) | |
15 | g.73322793A>G | CA491477788 | HCN4 | c.3300T>C (p.Thr1100=) c.2082T>C (p.Thr694=) | ClinVar dbSNP |
15 | g.73322793A>T | CA491477789 | HCN4 | c.3300T>A (p.Thr1100=) c.2082T>A (p.Thr694=) | ClinVar dbSNP |
15 | g.73322794G>A | CA393085718 | HCN4 | c.3299C>T (p.Thr1100Ile) c.2081C>T (p.Thr694Ile) | gnomAD v4 |
15 | g.73322794G>C | CA393085720 | HCN4 | c.3299C>G (p.Thr1100Ser) c.2081C>G (p.Thr694Ser) | dbSNP gnomAD v4 |
15 | g.73322794G= | CA2187186713 | HCN4 | c.3299C= (p.Thr1100=) c.2081C= (p.Thr694=) | |
15 | g.73322794G>T | CA393085722 | HCN4 | c.3299C>A (p.Thr1100Asn) c.2081C>A (p.Thr694Asn) | gnomAD v4 |
15 | g.73322795T>A | CA393085725 | HCN4 | c.3298A>T (p.Thr1100Ser) c.2080A>T (p.Thr694Ser) | |
15 | g.73322795T>C | CA393085727 | HCN4 | c.3298A>G (p.Thr1100Ala) c.2080A>G (p.Thr694Ala) | |
15 | g.73322795T>G | CA393085728 | HCN4 | c.3298A>C (p.Thr1100Pro) c.2080A>C (p.Thr694Pro) | |
15 | g.73322796C>A | CA393085732 | HCN4 | c.3297G>T (p.Gln1099His) c.2079G>T (p.Gln693His) | gnomAD v4 |
15 | g.73322796C= | CA2187186714 | HCN4 | c.3297G= (p.Gln1099=) c.2079G= (p.Gln693=) | |
15 | g.73322796C>G | CA393085733 | HCN4 | c.3297G>C (p.Gln1099His) c.2079G>C (p.Gln693His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322796C>T | CA491477790 | HCN4 | c.3297G>A (p.Gln1099=) c.2079G>A (p.Gln693=) | gnomAD v4 |
15 | g.73322797T>A | CA393085735 | HCN4 | c.3296A>T (p.Gln1099Leu) c.2078A>T (p.Gln693Leu) | gnomAD v4 |
15 | g.73322797T>C | CA393085737 | HCN4 | c.3296A>G (p.Gln1099Arg) c.2078A>G (p.Gln693Arg) | gnomAD v4 |