Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
15 | g.73322691G>A | CA491478111 | HCN4 | c.3402C>T (p.Gly1134=) c.2184C>T (p.Gly728=) | |
15 | g.73322691G>C | CA491478113 | HCN4 | c.3402C>G (p.Gly1134=) c.2184C>G (p.Gly728=) | |
15 | g.73322691G>T | CA491478114 | HCN4 | c.3402C>A (p.Gly1134=) c.2184C>A (p.Gly728=) | |
15 | g.73322693_73322701dup | CA619410592 | HCN4 | c.3394_3402dup (p.Gly1134_Leu1135insSerGlyGly) c.2176_2184dup (p.Gly728_Leu729insSerGlyGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322702_73322719dup | CA2582342623 | HCN4 | c.3385_3402dup (p.Gly1134_Leu1135insSerGlySerSerGlyGly) c.2167_2184dup (p.Gly728_Leu729insSerGlySerSerGlyGly) | ClinVar |
15 | g.73322702_73322719del | CA7648832 | HCN4 | c.3385_3402del (p.Ser1129_Gly1134del) c.2167_2184del (p.Ser723_Gly728del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73322692C>A | CA393085399 | HCN4 | c.3401G>T (p.Gly1134Val) c.2183G>T (p.Gly728Val) | dbSNP |
15 | g.73322692C= | CA2187186477 | HCN4 | c.3401G= (p.Gly1134=) c.2183G= (p.Gly728=) | |
15 | g.73322692C>G | CA393085398 | HCN4 | c.3401G>C (p.Gly1134Ala) c.2183G>C (p.Gly728Ala) | COSMIC |
15 | g.73322692C>T | CA393085397 | HCN4 | c.3401G>A (p.Gly1134Asp) c.2183G>A (p.Gly728Asp) | ClinVar dbSNP gnomAD v4 |
15 | g.73322693C>A | CA393085400 | HCN4 | c.3400G>T (p.Gly1134Cys) c.2182G>T (p.Gly728Cys) | dbSNP |
15 | g.73322693C= | CA2187186481 | HCN4 | c.3400G= (p.Gly1134=) c.2182G= (p.Gly728=) | |
15 | g.73322693C>G | CA393085401 | HCN4 | c.3400G>C (p.Gly1134Arg) c.2182G>C (p.Gly728Arg) | |
15 | g.73322693C>T | CA272663283 | HCN4 | c.3400G>A (p.Gly1134Ser) c.2182G>A (p.Gly728Ser) | dbSNP gnomAD v4 |
15 | g.73322694C>A | CA491478115 | HCN4 | c.3399G>T (p.Gly1133=) c.2181G>T (p.Gly727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322694C= | CA2187186484 | HCN4 | c.3399G= (p.Gly1133=) c.2181G= (p.Gly727=) | |
15 | g.73322694C>G | CA491478117 | HCN4 | c.3399G>C (p.Gly1133=) c.2181G>C (p.Gly727=) | |
15 | g.73322694C>T | CA491478119 | HCN4 | c.3399G>A (p.Gly1133=) c.2181G>A (p.Gly727=) | |
15 | g.73322695C>A | CA393085402 | HCN4 | c.3398G>T (p.Gly1133Val) c.2180G>T (p.Gly727Val) | |
15 | g.73322695C= | CA2187186486 | HCN4 | c.3398G= (p.Gly1133=) c.2180G= (p.Gly727=) | |
15 | g.73322695C>G | CA393085403 | HCN4 | c.3398G>C (p.Gly1133Ala) c.2180G>C (p.Gly727Ala) | |
15 | g.73322695C>T | CA393085404 | HCN4 | c.3398G>A (p.Gly1133Glu) c.2180G>A (p.Gly727Glu) | dbSNP gnomAD v4 |
15 | g.73322696C>A | CA393085405 | HCN4 | c.3397G>T (p.Gly1133Trp) c.2179G>T (p.Gly727Trp) | gnomAD v4 |
15 | g.73322696C= | CA2187186492 | HCN4 | c.3397G= (p.Gly1133=) c.2179G= (p.Gly727=) | |
15 | g.73322696C>G | CA7648834 | HCN4 | c.3397G>C (p.Gly1133Arg) c.2179G>C (p.Gly727Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322696C>T | CA7648835 | HCN4 | c.3397G>A (p.Gly1133Arg) c.2179G>A (p.Gly727Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73322697G>A | CA7648836 | HCN4 | c.3396C>T (p.Ser1132=) c.2178C>T (p.Ser726=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73322697G>C | CA393085406 | HCN4 | c.3396C>G (p.Ser1132Arg) c.2178C>G (p.Ser726Arg) | |
15 | g.73322697G= | CA2187186504 | HCN4 | c.3396C= (p.Ser1132=) c.2178C= (p.Ser726=) | |
15 | g.73322697G>T | CA393085407 | HCN4 | c.3396C>A (p.Ser1132Arg) c.2178C>A (p.Ser726Arg) | gnomAD v4 |
15 | g.73322697_73322706delinsGCTGCTCCCA | CA2187186501 | HCN4 | c.3387_3396delinsTGGGAGCAGC (p.Ser1129=) c.2169_2178delinsTGGGAGCAGC (p.Ser723=) | |
15 | g.73322698C>A | CA393085410 | HCN4 | c.3395G>T (p.Ser1132Ile) c.2177G>T (p.Ser726Ile) | |
15 | g.73322698C>G | CA393085409 | HCN4 | c.3395G>C (p.Ser1132Thr) c.2177G>C (p.Ser726Thr) | |
15 | g.73322698C>T | CA393085408 | HCN4 | c.3395G>A (p.Ser1132Asn) c.2177G>A (p.Ser726Asn) | COSMIC |
15 | g.73322702_73322710del | CA2187186506 | HCN4 | c.3387_3395del (p.Gly1130_Ser1132del) c.2169_2177del (p.Gly724_Ser726del) | dbSNP |
15 | g.73322699T>A | CA393085411 | HCN4 | c.3394A>T (p.Ser1132Cys) c.2176A>T (p.Ser726Cys) | |
15 | g.73322699T>C | CA393085413 | HCN4 | c.3394A>G (p.Ser1132Gly) c.2176A>G (p.Ser726Gly) | |
15 | g.73322699T>G | CA393085412 | HCN4 | c.3394A>C (p.Ser1132Arg) c.2176A>C (p.Ser726Arg) |