| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.73322678_73322679delinsCA | CA2187186415 | HCN4 | c.3414_3415delinsTG (p.Pro1138=) c.2196_2197delinsTG (p.Pro732=) | |
| 15 | g.73322679del | CA7648826 | HCN4 | c.3414del (p.Arg1140GlyfsTer?) c.2196del (p.Arg734GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322679A>C | CA491478091 | HCN4 | c.3414T>G (p.Pro1138=) c.2196T>G (p.Pro732=) | |
| 15 | g.73322679A>G | CA491478093 | HCN4 | c.3414T>C (p.Pro1138=) c.2196T>C (p.Pro732=) | |
| 15 | g.73322679A>T | CA491478094 | HCN4 | c.3414T>A (p.Pro1138=) c.2196T>A (p.Pro732=) | |
| 15 | g.73322680G>A | CA7648827 | HCN4 | c.3413C>T (p.Pro1138Leu) c.2195C>T (p.Pro732Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322680G>C | CA393085378 | HCN4 | c.3413C>G (p.Pro1138Arg) c.2195C>G (p.Pro732Arg) | |
| 15 | g.73322680G= | CA2187186421 | HCN4 | c.3413C= (p.Pro1138=) c.2195C= (p.Pro732=) | |
| 15 | g.73322680G>T | CA393085380 | HCN4 | c.3413C>A (p.Pro1138His) c.2195C>A (p.Pro732His) | dbSNP gnomAD v4 COSMIC |
| 15 | g.73322684dup | CA2580089969 | HCN4 | c.3413dup (p.Gly1139TrpfsTer?) c.2195dup (p.Gly733TrpfsTer?) | ClinVar |
| 15 | g.73322684del | CA393085379 | HCN4 | c.3413del (p.Pro1138LeufsTer?) c.2195del (p.Pro732LeufsTer?) | |
| 15 | g.73322681G>A | CA393085381 | HCN4 | c.3412C>T (p.Pro1138Ser) c.2194C>T (p.Pro732Ser) | COSMIC |
| 15 | g.73322681G>C | CA16614915 | HCN4 | c.3412C>G (p.Pro1138Ala) c.2194C>G (p.Pro732Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322681G= | CA2187186425 | HCN4 | c.3412C= (p.Pro1138=) c.2194C= (p.Pro732=) | |
| 15 | g.73322681G>T | CA393085382 | HCN4 | c.3412C>A (p.Pro1138Thr) c.2194C>A (p.Pro732Thr) | |
| 15 | g.73322682G>A | CA7648828 | HCN4 | c.3411C>T (p.Pro1137=) c.2193C>T (p.Pro731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322682G>C | CA491478098 | HCN4 | c.3411C>G (p.Pro1137=) c.2193C>G (p.Pro731=) | |
| 15 | g.73322682G= | CA2187186434 | HCN4 | c.3411C= (p.Pro1137=) c.2193C= (p.Pro731=) | |
| 15 | g.73322682G>T | CA491478099 | HCN4 | c.3411C>A (p.Pro1137=) c.2193C>A (p.Pro731=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322683G>A | CA393085383 | HCN4 | c.3410C>T (p.Pro1137Leu) c.2192C>T (p.Pro731Leu) | gnomAD v4 |
| 15 | g.73322683G>C | CA393085384 | HCN4 | c.3410C>G (p.Pro1137Arg) c.2192C>G (p.Pro731Arg) | dbSNP gnomAD v4 |
| 15 | g.73322683G= | CA2187186439 | HCN4 | c.3410C= (p.Pro1137=) c.2192C= (p.Pro731=) | |
| 15 | g.73322683G>T | CA393085385 | HCN4 | c.3410C>A (p.Pro1137His) c.2192C>A (p.Pro731His) | |
| 15 | g.73322684G>A | CA7648829 | HCN4 | c.3409C>T (p.Pro1137Ser) c.2191C>T (p.Pro731Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322684G>C | CA393085386 | HCN4 | c.3409C>G (p.Pro1137Ala) c.2191C>G (p.Pro731Ala) | gnomAD v4 |
| 15 | g.73322684G= | CA2187186441 | HCN4 | c.3409C= (p.Pro1137=) c.2191C= (p.Pro731=) | |
| 15 | g.73322684G>T | CA272663259 | HCN4 | c.3409C>A (p.Pro1137Thr) c.2191C>A (p.Pro731Thr) | dbSNP gnomAD v4 |
| 15 | g.73322685A>C | CA491478102 | HCN4 | c.3408T>G (p.Gly1136=) c.2190T>G (p.Gly730=) | |
| 15 | g.73322685A>G | CA491478103 | HCN4 | c.3408T>C (p.Gly1136=) c.2190T>C (p.Gly730=) | |
| 15 | g.73322685A>T | CA491478104 | HCN4 | c.3408T>A (p.Gly1136=) c.2190T>A (p.Gly730=) | |
| 15 | g.73322686C>A | CA393085389 | HCN4 | c.3407G>T (p.Gly1136Val) c.2189G>T (p.Gly730Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322686C= | CA2187186448 | HCN4 | c.3407G= (p.Gly1136=) c.2189G= (p.Gly730=) | |
| 15 | g.73322686C>G | CA393085388 | HCN4 | c.3407G>C (p.Gly1136Ala) c.2189G>C (p.Gly730Ala) | |
| 15 | g.73322686C>T | CA393085387 | HCN4 | c.3407G>A (p.Gly1136Asp) c.2189G>A (p.Gly730Asp) | |
| 15 | g.73322687C>A | CA393085390 | HCN4 | c.3406G>T (p.Gly1136Cys) c.2188G>T (p.Gly730Cys) | ClinVar |
| 15 | g.73322687C= | CA2187186455 | HCN4 | c.3406G= (p.Gly1136=) c.2188G= (p.Gly730=) | |
| 15 | g.73322687C>G | CA393085391 | HCN4 | c.3406G>C (p.Gly1136Arg) c.2188G>C (p.Gly730Arg) | dbSNP |
| 15 | g.73322687C>T | CA7648830 | HCN4 | c.3406G>A (p.Gly1136Ser) c.2188G>A (p.Gly730Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322688G>A | CA7648831 | HCN4 | c.3405C>T (p.Leu1135=) c.2187C>T (p.Leu729=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322688G>C | CA491478108 | HCN4 | c.3405C>G (p.Leu1135=) c.2187C>G (p.Leu729=) | |
| 15 | g.73322688G= | CA2187186461 | HCN4 | c.3405C= (p.Leu1135=) c.2187C= (p.Leu729=) | |
| 15 | g.73322688G>T | CA491478109 | HCN4 | c.3405C>A (p.Leu1135=) c.2187C>A (p.Leu729=) | |
| 15 | g.73322689A>C | CA393085392 | HCN4 | c.3404T>G (p.Leu1135Arg) c.2186T>G (p.Leu729Arg) | |
| 15 | g.73322689A>G | CA393085393 | HCN4 | c.3404T>C (p.Leu1135Pro) c.2186T>C (p.Leu729Pro) | |
| 15 | g.73322689A>T | CA393085394 | HCN4 | c.3404T>A (p.Leu1135His) c.2186T>A (p.Leu729His) | |
| 15 | g.73322690G>A | CA7648833 | HCN4 | c.3403C>T (p.Leu1135Phe) c.2185C>T (p.Leu729Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322690G>C | CA393085395 | HCN4 | c.3403C>G (p.Leu1135Val) c.2185C>G (p.Leu729Val) | gnomAD v4 |
| 15 | g.73322690G= | CA2187186468 | HCN4 | c.3403C= (p.Leu1135=) c.2185C= (p.Leu729=) | |
| 15 | g.73322690G>T | CA393085396 | HCN4 | c.3403C>A (p.Leu1135Ile) c.2185C>A (p.Leu729Ile) | gnomAD v4 |
| 15 | g.73322690_73322708delinsGGCCCCCGCTGCTCCCACT | CA2187186470 | HCN4 | c.3385_3403delinsAGTGGGAGCAGCGGGGGCC (p.Ser1129=) c.2167_2185delinsAGTGGGAGCAGCGGGGGCC (p.Ser723=) |