Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73323783C>A | CA491478704 | HCN4 | c.2310G>T (p.Thr770=) c.1092G>T (p.Thr364=) | |
15 | g.73323783C= | CA2187188649 | HCN4 | c.2310G= (p.Thr770=) c.1092G= (p.Thr364=) | |
15 | g.73323783C>G | CA491478705 | HCN4 | c.2310G>C (p.Thr770=) c.1092G>C (p.Thr364=) | |
15 | g.73323783C>T | CA7649049 | HCN4 | c.2310G>A (p.Thr770=) c.1092G>A (p.Thr364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73323783_73323786delinsCGTG | CA2187188650 | HCN4 | c.2307_2310delinsCACG (p.Pro769=) c.1089_1092delinsCACG (p.Pro363=) | |
15 | g.73323784G>A | CA7649051 | HCN4 | c.2309C>T (p.Thr770Met) c.1091C>T (p.Thr364Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323784G>C | CA393089144 | HCN4 | c.2309C>G (p.Thr770Arg) c.1091C>G (p.Thr364Arg) | |
15 | g.73323784G= | CA2187188651 | HCN4 | c.2309C= (p.Thr770=) c.1091C= (p.Thr364=) | |
15 | g.73323784G>T | CA393089145 | HCN4 | c.2309C>A (p.Thr770Lys) c.1091C>A (p.Thr364Lys) | ClinVar dbSNP gnomAD v4 |
15 | g.73323785_73323787del | CA7649050 | HCN4 | c.2307_2309del (p.Thr770del) c.1089_1091del (p.Thr364del) | dbSNP ExAC gnomAD v2 |
15 | g.73323785T>A | CA393089146 | HCN4 | c.2308A>T (p.Thr770Ser) c.1090A>T (p.Thr364Ser) | |
15 | g.73323785T>C | CA393089147 | HCN4 | c.2308A>G (p.Thr770Ala) c.1090A>G (p.Thr364Ala) | |
15 | g.73323785T>G | CA393089148 | HCN4 | c.2308A>C (p.Thr770Pro) c.1090A>C (p.Thr364Pro) | dbSNP |
15 | g.73323786G>A | CA491478322 | HCN4 | c.2307C>T (p.Pro769=) c.1089C>T (p.Pro363=) | |
15 | g.73323786G>C | CA491478324 | HCN4 | c.2307C>G (p.Pro769=) c.1089C>G (p.Pro363=) | |
15 | g.73323786G>T | CA491478327 | HCN4 | c.2307C>A (p.Pro769=) c.1089C>A (p.Pro363=) | gnomAD v4 |
15 | g.73323790del | CA2575783836 | HCN4 | c.2307del (p.Thr770ArgfsTer8) c.1089del (p.Thr364ArgfsTer8) | |
15 | g.73323787G>A | CA393089149 | HCN4 | c.2306C>T (p.Pro769Leu) c.1088C>T (p.Pro363Leu) | dbSNP gnomAD v4 |
15 | g.73323787G>C | CA393089150 | HCN4 | c.2306C>G (p.Pro769Arg) c.1088C>G (p.Pro363Arg) | |
15 | g.73323787G= | CA2187188652 | HCN4 | c.2306C= (p.Pro769=) c.1088C= (p.Pro363=) | |
15 | g.73323787G>T | CA7649052 | HCN4 | c.2306C>A (p.Pro769His) c.1088C>A (p.Pro363His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73323788G>A | CA7649053 | HCN4 | c.2305C>T (p.Pro769Ser) c.1087C>T (p.Pro363Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323788G>C | CA393089151 | HCN4 | c.2305C>G (p.Pro769Ala) c.1087C>G (p.Pro363Ala) | |
15 | g.73323788G= | CA2187188653 | HCN4 | c.2305C= (p.Pro769=) c.1087C= (p.Pro363=) | |
15 | g.73323788G>T | CA393089152 | HCN4 | c.2305C>A (p.Pro769Thr) c.1087C>A (p.Pro363Thr) | gnomAD v4 |
15 | g.73323789G>A | CA491478338 | HCN4 | c.2304C>T (p.Thr768=) c.1086C>T (p.Thr362=) | gnomAD v4 |
15 | g.73323789G>C | CA491478339 | HCN4 | c.2304C>G (p.Thr768=) c.1086C>G (p.Thr362=) | |
15 | g.73323789G= | CA2187188654 | HCN4 | c.2304C= (p.Thr768=) c.1086C= (p.Thr362=) | |
15 | g.73323789G>T | CA7649054 | HCN4 | c.2304C>A (p.Thr768=) c.1086C>A (p.Thr362=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73323790G>A | CA393089153 | HCN4 | c.2303C>T (p.Thr768Ile) c.1085C>T (p.Thr362Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73323790G>C | CA393089154 | HCN4 | c.2303C>G (p.Thr768Ser) c.1085C>G (p.Thr362Ser) | |
15 | g.73323790G= | CA2187188655 | HCN4 | c.2303C= (p.Thr768=) c.1085C= (p.Thr362=) | |
15 | g.73323790G>T | CA393089155 | HCN4 | c.2303C>A (p.Thr768Asn) c.1085C>A (p.Thr362Asn) | gnomAD v4 |
15 | g.73323791T>A | CA393089156 | HCN4 | c.2302A>T (p.Thr768Ser) c.1084A>T (p.Thr362Ser) | |
15 | g.73323791T>C | CA393089157 | HCN4 | c.2302A>G (p.Thr768Ala) c.1084A>G (p.Thr362Ala) | gnomAD v4 |
15 | g.73323791T>G | CA393089158 | HCN4 | c.2302A>C (p.Thr768Pro) c.1084A>C (p.Thr362Pro) | |
15 | g.73323792T>A | CA491478345 | HCN4 | c.2301A>T (p.Pro767=) c.1083A>T (p.Pro361=) | |
15 | g.73323792T>C | CA491478347 | HCN4 | c.2301A>G (p.Pro767=) c.1083A>G (p.Pro361=) | |
15 | g.73323792T>G | CA491478348 | HCN4 | c.2301A>C (p.Pro767=) c.1083A>C (p.Pro361=) | |
15 | g.73323792_73323793del | CA2629370794 | HCN4 | c.2300_2301del (p.Pro767HisfsTer?) c.1082_1083del (p.Pro361HisfsTer?) | gnomAD v4 |
15 | g.73323793G>A | CA393089160 | HCN4 | c.2300C>T (p.Pro767Leu) c.1082C>T (p.Pro361Leu) | |
15 | g.73323793G>C | CA393089161 | HCN4 | c.2300C>G (p.Pro767Arg) c.1082C>G (p.Pro361Arg) | |
15 | g.73323793G>T | CA393089159 | HCN4 | c.2300C>A (p.Pro767Gln) c.1082C>A (p.Pro361Gln) | gnomAD v4 |
15 | g.73323796del | CA2629370796 | HCN4 | c.2300del (p.Pro767GlnfsTer11) c.1082del (p.Pro361GlnfsTer11) | gnomAD v4 |
15 | g.73323794G>A | CA393089162 | HCN4 | c.2299C>T (p.Pro767Ser) c.1081C>T (p.Pro361Ser) | |
15 | g.73323794G>C | CA393089163 | HCN4 | c.2299C>G (p.Pro767Ala) c.1081C>G (p.Pro361Ala) | |
15 | g.73323794G>T | CA393089164 | HCN4 | c.2299C>A (p.Pro767Thr) c.1081C>A (p.Pro361Thr) | gnomAD v4 |
15 | g.73323795G>A | CA491478354 | HCN4 | c.2298C>T (p.Thr766=) c.1080C>T (p.Thr360=) | gnomAD v4 |
15 | g.73323795G>C | CA491478355 | HCN4 | c.2298C>G (p.Thr766=) c.1080C>G (p.Thr360=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73323795G= | CA2187188656 | HCN4 | c.2298C= (p.Thr766=) c.1080C= (p.Thr360=) |