Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73323159_73323250del | CA619410578 | HCN4 | c.2852_2943del (p.Gly951ValfsTer21) c.1634_1725del (p.Gly545ValfsTer21) | gnomAD v2 |
15 | g.73323196C>A | CA393087035 | HCN4 | c.2897G>T (p.Arg966Ile) c.1679G>T (p.Arg560Ile) | gnomAD v4 |
15 | g.73323196C>G | CA393087039 | HCN4 | c.2897G>C (p.Arg966Thr) c.1679G>C (p.Arg560Thr) | |
15 | g.73323196C>T | CA393087038 | HCN4 | c.2897G>A (p.Arg966Lys) c.1679G>A (p.Arg560Lys) | |
15 | g.73323196_73323197delinsCT | CA2187187685 | HCN4 | c.2896_2897delinsAG (p.Arg966=) c.1678_1679delinsAG (p.Arg560=) | |
15 | g.73323197del | CA7648934 | HCN4 | c.2896del (p.Arg966AspfsTer19) c.1678del (p.Arg560AspfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323197T>A | CA393087041 | HCN4 | c.2896A>T (p.Arg966Ter) c.1678A>T (p.Arg560Ter) | gnomAD v4 |
15 | g.73323197T>C | CA393087046 | HCN4 | c.2896A>G (p.Arg966Gly) c.1678A>G (p.Arg560Gly) | gnomAD v4 |
15 | g.73323197T>G | CA491478792 | HCN4 | c.2896A>C (p.Arg966=) c.1678A>C (p.Arg560=) | ClinVar |
15 | g.73323198G>A | CA491478795 | HCN4 | c.2895C>T (p.Ser965=) c.1677C>T (p.Ser559=) | dbSNP gnomAD v4 |
15 | g.73323198G>C | CA491478797 | HCN4 | c.2895C>G (p.Ser965=) c.1677C>G (p.Ser559=) | |
15 | g.73323198G= | CA2187187690 | HCN4 | c.2895C= (p.Ser965=) c.1677C= (p.Ser559=) | |
15 | g.73323198G>T | CA491478798 | HCN4 | c.2895C>A (p.Ser965=) c.1677C>A (p.Ser559=) | ClinVar gnomAD v4 |
15 | g.73323199G>A | CA393087050 | HCN4 | c.2894C>T (p.Ser965Phe) c.1676C>T (p.Ser559Phe) | gnomAD v4 |
15 | g.73323199G>C | CA393087052 | HCN4 | c.2894C>G (p.Ser965Cys) c.1676C>G (p.Ser559Cys) | |
15 | g.73323199G>T | CA393087054 | HCN4 | c.2894C>A (p.Ser965Tyr) c.1676C>A (p.Ser559Tyr) | gnomAD v4 |
15 | g.73323200A>C | CA393087055 | HCN4 | c.2893T>G (p.Ser965Ala) c.1675T>G (p.Ser559Ala) | |
15 | g.73323200A>G | CA393087057 | HCN4 | c.2893T>C (p.Ser965Pro) c.1675T>C (p.Ser559Pro) | gnomAD v4 |
15 | g.73323200A>T | CA393087060 | HCN4 | c.2893T>A (p.Ser965Thr) c.1675T>A (p.Ser559Thr) | |
15 | g.73323201T>A | CA491478802 | HCN4 | c.2892A>T (p.Ser964=) c.1674A>T (p.Ser558=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73323201T>C | CA491478804 | HCN4 | c.2892A>G (p.Ser964=) c.1674A>G (p.Ser558=) | |
15 | g.73323201T>G | CA491478805 | HCN4 | c.2892A>C (p.Ser964=) c.1674A>C (p.Ser558=) | ClinVar dbSNP gnomAD v4 |
15 | g.73323201T= | CA2187187692 | HCN4 | c.2892A= (p.Ser964=) c.1674A= (p.Ser558=) | |
15 | g.73323202G>A | CA393087064 | HCN4 | c.2891C>T (p.Ser964Leu) c.1673C>T (p.Ser558Leu) | dbSNP gnomAD v4 |
15 | g.73323202G>C | CA393087065 | HCN4 | c.2891C>G (p.Ser964Ter) c.1673C>G (p.Ser558Ter) | |
15 | g.73323202G= | CA2187187695 | HCN4 | c.2891C= (p.Ser964=) c.1673C= (p.Ser558=) | |
15 | g.73323202G>T | CA393087068 | HCN4 | c.2891C>A (p.Ser964Ter) c.1673C>A (p.Ser558Ter) | |
15 | g.73323203A>C | CA393087070 | HCN4 | c.2890T>G (p.Ser964Ala) c.1672T>G (p.Ser558Ala) | dbSNP |
15 | g.73323203A>G | CA393087074 | HCN4 | c.2890T>C (p.Ser964Pro) c.1672T>C (p.Ser558Pro) | gnomAD v4 |
15 | g.73323203A>T | CA393087075 | HCN4 | c.2890T>A (p.Ser964Thr) c.1672T>A (p.Ser558Thr) | gnomAD v4 |
15 | g.73323203_73323209delinsAGGGTGG | CA2187187699 | HCN4 | c.2884_2890delinsCCACCCT (p.Pro962=) c.1666_1672delinsCCACCCT (p.Pro556=) | |
15 | g.73323204G>A | CA491478818 | HCN4 | c.2889C>T (p.Pro963=) c.1671C>T (p.Pro557=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323204G>C | CA491478815 | HCN4 | c.2889C>G (p.Pro963=) c.1671C>G (p.Pro557=) | |
15 | g.73323204G= | CA2187187704 | HCN4 | c.2889C= (p.Pro963=) c.1671C= (p.Pro557=) | |
15 | g.73323204G>T | CA491478812 | HCN4 | c.2889C>A (p.Pro963=) c.1671C>A (p.Pro557=) | gnomAD v4 |
15 | g.73323206del | CA2629370552 | HCN4 | c.2889del (p.Ser964HisfsTer21) c.1671del (p.Ser558HisfsTer21) | gnomAD v4 |
15 | g.73323210_73323215dup | CA2575783831 | HCN4 | c.2884_2889dup (p.Pro963_Ser964insProPro) c.1666_1671dup (p.Pro557_Ser558insProPro) | |
15 | g.73323210_73323215del | CA7648935 | HCN4 | c.2884_2889del (p.Pro962_Pro963del) c.1666_1671del (p.Pro556_Pro557del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323205G>A | CA393087078 | HCN4 | c.2888C>T (p.Pro963Leu) c.1670C>T (p.Pro557Leu) | ClinVar gnomAD v4 |
15 | g.73323205G>C | CA393087082 | HCN4 | c.2888C>G (p.Pro963Arg) c.1670C>G (p.Pro557Arg) | |
15 | g.73323205G>T | CA393087079 | HCN4 | c.2888C>A (p.Pro963His) c.1670C>A (p.Pro557His) | gnomAD v4 |
15 | g.73323206G>A | CA393087086 | HCN4 | c.2887C>T (p.Pro963Ser) c.1669C>T (p.Pro557Ser) | dbSNP gnomAD v4 |
15 | g.73323206G>C | CA393087088 | HCN4 | c.2887C>G (p.Pro963Ala) c.1669C>G (p.Pro557Ala) | |
15 | g.73323206G= | CA2187187709 | HCN4 | c.2887C= (p.Pro963=) c.1669C= (p.Pro557=) | |
15 | g.73323206G>T | CA393087091 | HCN4 | c.2887C>A (p.Pro963Thr) c.1669C>A (p.Pro557Thr) | gnomAD v4 |
15 | g.73323207T>A | CA491478823 | HCN4 | c.2886A>T (p.Pro962=) c.1668A>T (p.Pro556=) | gnomAD v4 |
15 | g.73323207T>C | CA491478825 | HCN4 | c.2886A>G (p.Pro962=) c.1668A>G (p.Pro556=) | |
15 | g.73323207T>G | CA491478826 | HCN4 | c.2886A>C (p.Pro962=) c.1668A>C (p.Pro556=) | ClinVar dbSNP gnomAD v4 |
15 | g.73323208G>A | CA393087094 | HCN4 | c.2885C>T (p.Pro962Leu) c.1667C>T (p.Pro556Leu) | ClinVar |
15 | g.73323208G>C | CA393087097 | HCN4 | c.2885C>G (p.Pro962Arg) c.1667C>G (p.Pro556Arg) |