Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73323392C>A | CA393088358 | HCN4 | c.2701G>T (p.Ala901Ser) c.1483G>T (p.Ala495Ser) | gnomAD v4 |
15 | g.73323392C= | CA2187188189 | HCN4 | c.2701G= (p.Ala901=) c.1483G= (p.Ala495=) | |
15 | g.73323392C>G | CA393088360 | HCN4 | c.2701G>C (p.Ala901Pro) c.1483G>C (p.Ala495Pro) | dbSNP |
15 | g.73323392C>T | CA7648968 | HCN4 | c.2701G>A (p.Ala901Thr) c.1483G>A (p.Ala495Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323393G>A | CA7648970 | HCN4 | c.2700C>T (p.Ala900=) c.1482C>T (p.Ala494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323393G>C | CA491478477 | HCN4 | c.2700C>G (p.Ala900=) c.1482C>G (p.Ala494=) | |
15 | g.73323393G= | CA2187188197 | HCN4 | c.2700C= (p.Ala900=) c.1482C= (p.Ala494=) | |
15 | g.73323393G>T | CA7648969 | HCN4 | c.2700C>A (p.Ala900=) c.1482C>A (p.Ala494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323394G>A | CA393088365 | HCN4 | c.2699C>T (p.Ala900Val) c.1481C>T (p.Ala494Val) | gnomAD v4 |
15 | g.73323394G>C | CA393088367 | HCN4 | c.2699C>G (p.Ala900Gly) c.1481C>G (p.Ala494Gly) | |
15 | g.73323394G>T | CA393088369 | HCN4 | c.2699C>A (p.Ala900Asp) c.1481C>A (p.Ala494Asp) | gnomAD v4 |
15 | g.73323395C>A | CA393088370 | HCN4 | c.2698G>T (p.Ala900Ser) c.1480G>T (p.Ala494Ser) | |
15 | g.73323395C= | CA2187188202 | HCN4 | c.2698G= (p.Ala900=) c.1480G= (p.Ala494=) | |
15 | g.73323395C>G | CA393088372 | HCN4 | c.2698G>C (p.Ala900Pro) c.1480G>C (p.Ala494Pro) | dbSNP |
15 | g.73323395C>T | CA393088374 | HCN4 | c.2698G>A (p.Ala900Thr) c.1480G>A (p.Ala494Thr) | dbSNP gnomAD v4 |
15 | g.73323396T>A | CA491478482 | HCN4 | c.2697A>T (p.Val899=) c.1479A>T (p.Val493=) | |
15 | g.73323396T>C | CA491478484 | HCN4 | c.2697A>G (p.Val899=) c.1479A>G (p.Val493=) | |
15 | g.73323396T>G | CA491478486 | HCN4 | c.2697A>C (p.Val899=) c.1479A>C (p.Val493=) | dbSNP |
15 | g.73323396T= | CA2187188205 | HCN4 | c.2697A= (p.Val899=) c.1479A= (p.Val493=) | |
15 | g.73323397A>C | CA393088376 | HCN4 | c.2696T>G (p.Val899Gly) c.1478T>G (p.Val493Gly) | ClinVar |
15 | g.73323397A>G | CA393088378 | HCN4 | c.2696T>C (p.Val899Ala) c.1478T>C (p.Val493Ala) | dbSNP |
15 | g.73323397A>T | CA393088380 | HCN4 | c.2696T>A (p.Val899Glu) c.1478T>A (p.Val493Glu) | |
15 | g.73323398C>A | CA393088381 | HCN4 | c.2695G>T (p.Val899Leu) c.1477G>T (p.Val493Leu) | gnomAD v4 |
15 | g.73323398C= | CA2187188210 | HCN4 | c.2695G= (p.Val899=) c.1477G= (p.Val493=) | |
15 | g.73323398C>G | CA393088383 | HCN4 | c.2695G>C (p.Val899Leu) c.1477G>C (p.Val493Leu) | |
15 | g.73323398C>T | CA272664364 | HCN4 | c.2695G>A (p.Val899Ile) c.1477G>A (p.Val493Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323399G>A | CA7648971 | HCN4 | c.2694C>T (p.Gly898=) c.1476C>T (p.Gly492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323399G>C | CA491478494 | HCN4 | c.2694C>G (p.Gly898=) c.1476C>G (p.Gly492=) | |
15 | g.73323399G= | CA2187188217 | HCN4 | c.2694C= (p.Gly898=) c.1476C= (p.Gly492=) | |
15 | g.73323399G>T | CA491478495 | HCN4 | c.2694C>A (p.Gly898=) c.1476C>A (p.Gly492=) | ClinVar dbSNP |
15 | g.73323400C>A | CA393088387 | HCN4 | c.2693G>T (p.Gly898Val) c.1475G>T (p.Gly492Val) | |
15 | g.73323400C>G | CA393088391 | HCN4 | c.2693G>C (p.Gly898Ala) c.1475G>C (p.Gly492Ala) | |
15 | g.73323400C>T | CA393088389 | HCN4 | c.2693G>A (p.Gly898Asp) c.1475G>A (p.Gly492Asp) | |
15 | g.73323401C>A | CA393088392 | HCN4 | c.2692G>T (p.Gly898Cys) c.1474G>T (p.Gly492Cys) | |
15 | g.73323401C>G | CA393088395 | HCN4 | c.2692G>C (p.Gly898Arg) c.1474G>C (p.Gly492Arg) | |
15 | g.73323401C>T | CA393088393 | HCN4 | c.2692G>A (p.Gly898Ser) c.1474G>A (p.Gly492Ser) | |
15 | g.73323402A>C | CA491478501 | HCN4 | c.2691T>G (p.Ala897=) c.1473T>G (p.Ala491=) | ClinVar gnomAD v4 |
15 | g.73323402A>G | CA491478499 | HCN4 | c.2691T>C (p.Ala897=) c.1473T>C (p.Ala491=) | gnomAD v4 |
15 | g.73323402A>T | CA491478500 | HCN4 | c.2691T>A (p.Ala897=) c.1473T>A (p.Ala491=) | |
15 | g.73323403G>A | CA393088396 | HCN4 | c.2690C>T (p.Ala897Val) c.1472C>T (p.Ala491Val) | |
15 | g.73323403G>C | CA393088397 | HCN4 | c.2690C>G (p.Ala897Gly) c.1472C>G (p.Ala491Gly) | |
15 | g.73323403G>T | CA393088399 | HCN4 | c.2690C>A (p.Ala897Asp) c.1472C>A (p.Ala491Asp) | |
15 | g.73323404C>A | CA393088400 | HCN4 | c.2689G>T (p.Ala897Ser) c.1471G>T (p.Ala491Ser) | |
15 | g.73323404C= | CA2187188220 | HCN4 | c.2689G= (p.Ala897=) c.1471G= (p.Ala491=) | |
15 | g.73323404C>G | CA393088402 | HCN4 | c.2689G>C (p.Ala897Pro) c.1471G>C (p.Ala491Pro) | |
15 | g.73323404C>T | CA393088403 | HCN4 | c.2689G>A (p.Ala897Thr) c.1471G>A (p.Ala491Thr) | |
15 | g.73323405T>A | CA491478511 | HCN4 | c.2688A>T (p.Ser896=) c.1470A>T (p.Ser490=) | |
15 | g.73323405T>C | CA491478510 | HCN4 | c.2688A>G (p.Ser896=) c.1470A>G (p.Ser490=) | |
15 | g.73323405T>G | CA491478509 | HCN4 | c.2688A>C (p.Ser896=) c.1470A>C (p.Ser490=) | gnomAD v3 gnomAD v4 |
15 | g.73323407_73323409dup | CA971394813 | HCN4 | c.2686_2688dup (p.Ser896_Ala897insSer) c.1468_1470dup (p.Ser490_Ala491insSer) | dbSNP gnomAD v3 gnomAD v4 |