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.73323193del | CA2629370551 | HCN4 | c.2903del (p.Pro968ArgfsTer17) c.1685del (p.Pro562ArgfsTer17) | gnomAD v4 |
15 | g.73323192G>A | CA7648933 | HCN4 | c.2901C>T (p.Ser967=) c.1683C>T (p.Ser561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323192G>C | CA491478789 | HCN4 | c.2901C>G (p.Ser967=) c.1683C>G (p.Ser561=) | |
15 | g.73323192G= | CA2187187675 | HCN4 | c.2901C= (p.Ser967=) c.1683C= (p.Ser561=) | |
15 | g.73323192G>T | CA491478787 | HCN4 | c.2901C>A (p.Ser967=) c.1683C>A (p.Ser561=) | |
15 | g.73323193G>A | CA393087019 | HCN4 | c.2900C>T (p.Ser967Phe) c.1682C>T (p.Ser561Phe) | gnomAD v4 |
15 | g.73323193G>C | CA393087016 | HCN4 | c.2900C>G (p.Ser967Cys) c.1682C>G (p.Ser561Cys) | gnomAD v4 |
15 | g.73323193G>T | CA393087014 | HCN4 | c.2900C>A (p.Ser967Tyr) c.1682C>A (p.Ser561Tyr) | gnomAD v4 |
15 | g.73323194A= | CA2187187681 | HCN4 | c.2899T= (p.Ser967=) c.1681T= (p.Ser561=) | |
15 | g.73323194A>C | CA393087025 | HCN4 | c.2899T>G (p.Ser967Ala) c.1681T>G (p.Ser561Ala) | |
15 | g.73323194A>G | CA393087023 | HCN4 | c.2899T>C (p.Ser967Pro) c.1681T>C (p.Ser561Pro) | dbSNP |
15 | g.73323194A>T | CA393087027 | HCN4 | c.2899T>A (p.Ser967Thr) c.1681T>A (p.Ser561Thr) | |
15 | g.73323195T>A | CA393087030 | HCN4 | c.2898A>T (p.Arg966Ser) c.1680A>T (p.Arg560Ser) | |
15 | g.73323195T>C | CA491478790 | HCN4 | c.2898A>G (p.Arg966=) c.1680A>G (p.Arg560=) | |
15 | g.73323195T>G | CA393087031 | HCN4 | c.2898A>C (p.Arg966Ser) c.1680A>C (p.Arg560Ser) | gnomAD v4 |
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 |