UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 15 | g.73322700G>A | CA491478127 | HCN4 | c.3393C>T (p.Ser1131=) c.2175C>T (p.Ser725=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322700G>C | CA393085414 | HCN4 | c.3393C>G (p.Ser1131Arg) c.2175C>G (p.Ser725Arg) | |
| 15 | g.73322700G= | CA2187186509 | HCN4 | c.3393C= (p.Ser1131=) c.2175C= (p.Ser725=) | |
| 15 | g.73322700G>T | CA393085415 | HCN4 | c.3393C>A (p.Ser1131Arg) c.2175C>A (p.Ser725Arg) | gnomAD v4 |
| 15 | g.73322701C>A | CA393085416 | HCN4 | c.3392G>T (p.Ser1131Ile) c.2174G>T (p.Ser725Ile) | |
| 15 | g.73322701C= | CA2187186511 | HCN4 | c.3392G= (p.Ser1131=) c.2174G= (p.Ser725=) | |
| 15 | g.73322701C>G | CA393085417 | HCN4 | c.3392G>C (p.Ser1131Thr) c.2174G>C (p.Ser725Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322701C>T | CA393085418 | HCN4 | c.3392G>A (p.Ser1131Asn) c.2174G>A (p.Ser725Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322702T>A | CA393085419 | HCN4 | c.3391A>T (p.Ser1131Cys) c.2173A>T (p.Ser725Cys) | ClinVar |
| 15 | g.73322702T>C | CA393085420 | HCN4 | c.3391A>G (p.Ser1131Gly) c.2173A>G (p.Ser725Gly) | |
| 15 | g.73322702T>G | CA393085421 | HCN4 | c.3391A>C (p.Ser1131Arg) c.2173A>C (p.Ser725Arg) | |
| 15 | g.73322703C>A | CA491478128 | HCN4 | c.3390G>T (p.Gly1130=) c.2172G>T (p.Gly724=) | |
| 15 | g.73322703C>G | CA491478129 | HCN4 | c.3390G>C (p.Gly1130=) c.2172G>C (p.Gly724=) | |
| 15 | g.73322703C>T | CA491478130 | HCN4 | c.3390G>A (p.Gly1130=) c.2172G>A (p.Gly724=) | gnomAD v4 |
| 15 | g.73322704C>A | CA393085422 | HCN4 | c.3389G>T (p.Gly1130Val) c.2171G>T (p.Gly724Val) | |
| 15 | g.73322704C>G | CA393085423 | HCN4 | c.3389G>C (p.Gly1130Ala) c.2171G>C (p.Gly724Ala) | |
| 15 | g.73322704C>T | CA393085424 | HCN4 | c.3389G>A (p.Gly1130Glu) c.2171G>A (p.Gly724Glu) | |
| 15 | g.73322705C>A | CA393085427 | HCN4 | c.3388G>T (p.Gly1130Trp) c.2170G>T (p.Gly724Trp) | gnomAD v4 |
| 15 | g.73322705C= | CA2187186516 | HCN4 | c.3388G= (p.Gly1130=) c.2170G= (p.Gly724=) | |
| 15 | g.73322705C>G | CA393085426 | HCN4 | c.3388G>C (p.Gly1130Arg) c.2170G>C (p.Gly724Arg) | |
| 15 | g.73322705C>T | CA393085425 | HCN4 | c.3388G>A (p.Gly1130Arg) c.2170G>A (p.Gly724Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322706A>C | CA393085428 | HCN4 | c.3387T>G (p.Ser1129Arg) c.2169T>G (p.Ser723Arg) | |
| 15 | g.73322706A>G | CA491478131 | HCN4 | c.3387T>C (p.Ser1129=) c.2169T>C (p.Ser723=) | |
| 15 | g.73322706A>T | CA393085429 | HCN4 | c.3387T>A (p.Ser1129Arg) c.2169T>A (p.Ser723Arg) | |
| 15 | g.73322706_73322715delinsACTGCCCCCG | CA2187186522 | HCN4 | c.3378_3387delinsCGGGGGCAGT (p.Ser1126=) c.2160_2169delinsCGGGGGCAGT (p.Ser720=) | |
| 15 | g.73322707C>A | CA393085430 | HCN4 | c.3386G>T (p.Ser1129Ile) c.2168G>T (p.Ser723Ile) | |
| 15 | g.73322707C= | CA2187186525 | HCN4 | c.3386G= (p.Ser1129=) c.2168G= (p.Ser723=) | |
| 15 | g.73322707C>G | CA393085431 | HCN4 | c.3386G>C (p.Ser1129Thr) c.2168G>C (p.Ser723Thr) | gnomAD v4 |
| 15 | g.73322707C>T | CA393085432 | HCN4 | c.3386G>A (p.Ser1129Asn) c.2168G>A (p.Ser723Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322712_73322720del | CA7648837 | HCN4 | c.3378_3386del (p.Gly1127_Ser1129del) c.2160_2168del (p.Gly721_Ser723del) | dbSNP ExAC gnomAD v2 |
| 15 | g.73322708T>A | CA393085433 | HCN4 | c.3385A>T (p.Ser1129Cys) c.2167A>T (p.Ser723Cys) | |
| 15 | g.73322708T>C | CA393085434 | HCN4 | c.3385A>G (p.Ser1129Gly) c.2167A>G (p.Ser723Gly) | |
| 15 | g.73322708T>G | CA393085435 | HCN4 | c.3385A>C (p.Ser1129Arg) c.2167A>C (p.Ser723Arg) | |
| 15 | g.73322709G>A | CA491478132 | HCN4 | c.3384C>T (p.Gly1128=) c.2166C>T (p.Gly722=) | gnomAD v4 |
| 15 | g.73322709G>C | CA491478133 | HCN4 | c.3384C>G (p.Gly1128=) c.2166C>G (p.Gly722=) | |
| 15 | g.73322709G>T | CA491478134 | HCN4 | c.3384C>A (p.Gly1128=) c.2166C>A (p.Gly722=) | |
| 15 | g.73322710C>A | CA234110 | HCN4 | c.3383G>T (p.Gly1128Val) c.2165G>T (p.Gly722Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322710C= | CA2187186529 | HCN4 | c.3383G= (p.Gly1128=) c.2165G= (p.Gly722=) | |
| 15 | g.73322710C>G | CA393085436 | HCN4 | c.3383G>C (p.Gly1128Ala) c.2165G>C (p.Gly722Ala) | |
| 15 | g.73322710C>T | CA393085437 | HCN4 | c.3383G>A (p.Gly1128Asp) c.2165G>A (p.Gly722Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322712_73322714del | CA2552225299 | HCN4 | c.3381_3383del (p.Gly1128del) c.2163_2165del (p.Gly722del) | |
| 15 | g.73322711C>A | CA393085439 | HCN4 | c.3382G>T (p.Gly1128Cys) c.2164G>T (p.Gly722Cys) | |
| 15 | g.73322711C= | CA2187186539 | HCN4 | c.3382G= (p.Gly1128=) c.2164G= (p.Gly722=) | |
| 15 | g.73322711C>G | CA393085438 | HCN4 | c.3382G>C (p.Gly1128Arg) c.2164G>C (p.Gly722Arg) | |
| 15 | g.73322711C>T | CA7648838 | HCN4 | c.3382G>A (p.Gly1128Ser) c.2164G>A (p.Gly722Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322712C>A | CA491478135 | HCN4 | c.3381G>T (p.Gly1127=) c.2163G>T (p.Gly721=) | |
| 15 | g.73322712C= | CA2187186543 | HCN4 | c.3381G= (p.Gly1127=) c.2163G= (p.Gly721=) | |
| 15 | g.73322712C>G | CA491478137 | HCN4 | c.3381G>C (p.Gly1127=) c.2163G>C (p.Gly721=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322712C>T | CA491478136 | HCN4 | c.3381G>A (p.Gly1127=) c.2163G>A (p.Gly721=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322713C>A | CA393085440 | HCN4 | c.3380G>T (p.Gly1127Val) c.2162G>T (p.Gly721Val) | |
| 15 | g.73322713C>G | CA393085441 | HCN4 | c.3380G>C (p.Gly1127Ala) c.2162G>C (p.Gly721Ala) | |
| 15 | g.73322713C>T | CA393085442 | HCN4 | c.3380G>A (p.Gly1127Glu) c.2162G>A (p.Gly721Glu) | ClinVar dbSNP |
| 15 | g.73322714C>A | CA393085443 | HCN4 | c.3379G>T (p.Gly1127Trp) c.2161G>T (p.Gly721Trp) | |
| 15 | g.73322714C= | CA2187186549 | HCN4 | c.3379G= (p.Gly1127=) c.2161G= (p.Gly721=) | |
| 15 | g.73322714C>G | CA393085444 | HCN4 | c.3379G>C (p.Gly1127Arg) c.2161G>C (p.Gly721Arg) | |
| 15 | g.73322714C>T | CA7648839 | HCN4 | c.3379G>A (p.Gly1127Arg) c.2161G>A (p.Gly721Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322715G>A | CA7648840 | HCN4 | c.3378C>T (p.Ser1126=) c.2160C>T (p.Ser720=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322715G>C | CA393085445 | HCN4 | c.3378C>G (p.Ser1126Arg) c.2160C>G (p.Ser720Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322715G= | CA2187186555 | HCN4 | c.3378C= (p.Ser1126=) c.2160C= (p.Ser720=) | |
| 15 | g.73322715G>T | CA393085446 | HCN4 | c.3378C>A (p.Ser1126Arg) c.2160C>A (p.Ser720Arg) | ClinVar gnomAD v4 |
| 15 | g.73322716C>A | CA393085447 | HCN4 | c.3377G>T (p.Ser1126Ile) c.2159G>T (p.Ser720Ile) | gnomAD v4 |
| 15 | g.73322716C= | CA2187186561 | HCN4 | c.3377G= (p.Ser1126=) c.2159G= (p.Ser720=) | |
| 15 | g.73322716C>G | CA393085448 | HCN4 | c.3377G>C (p.Ser1126Thr) c.2159G>C (p.Ser720Thr) | |
| 15 | g.73322716C>T | CA393085449 | HCN4 | c.3377G>A (p.Ser1126Asn) c.2159G>A (p.Ser720Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322717T>A | CA393085452 | HCN4 | c.3376A>T (p.Ser1126Cys) c.2158A>T (p.Ser720Cys) | |
| 15 | g.73322717T>C | CA393085451 | HCN4 | c.3376A>G (p.Ser1126Gly) c.2158A>G (p.Ser720Gly) | |
| 15 | g.73322717T>G | CA393085450 | HCN4 | c.3376A>C (p.Ser1126Arg) c.2158A>C (p.Ser720Arg) | |
| 15 | g.73322718G>A | CA491478138 | HCN4 | c.3375C>T (p.Gly1125=) c.2157C>T (p.Gly719=) | gnomAD v4 |
| 15 | g.73322718G>C | CA491478139 | HCN4 | c.3375C>G (p.Gly1125=) c.2157C>G (p.Gly719=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322718G>T | CA491478140 | HCN4 | c.3375C>A (p.Gly1125=) c.2157C>A (p.Gly719=) | |
| 15 | g.73322719C>A | CA393085453 | HCN4 | c.3374G>T (p.Gly1125Val) c.2156G>T (p.Gly719Val) | gnomAD v4 |
| 15 | g.73322719C>G | CA393085454 | HCN4 | c.3374G>C (p.Gly1125Ala) c.2156G>C (p.Gly719Ala) | |
| 15 | g.73322719C>T | CA393085455 | HCN4 | c.3374G>A (p.Gly1125Asp) c.2156G>A (p.Gly719Asp) | |
| 15 | g.73322720C>A | CA393085456 | HCN4 | c.3373G>T (p.Gly1125Cys) c.2155G>T (p.Gly719Cys) | gnomAD v4 |
| 15 | g.73322720C= | CA2187186564 | HCN4 | c.3373G= (p.Gly1125=) c.2155G= (p.Gly719=) | |
| 15 | g.73322720C>G | CA393085457 | HCN4 | c.3373G>C (p.Gly1125Arg) c.2155G>C (p.Gly719Arg) | |
| 15 | g.73322720C>T | CA7648841 | HCN4 | c.3373G>A (p.Gly1125Ser) c.2155G>A (p.Gly719Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322721A= | CA2187186570 | HCN4 | c.3372T= (p.Gly1124=) c.2154T= (p.Gly718=) | |
| 15 | g.73322721A>C | CA491478141 | HCN4 | c.3372T>G (p.Gly1124=) c.2154T>G (p.Gly718=) | dbSNP |
| 15 | g.73322721A>G | CA491478142 | HCN4 | c.3372T>C (p.Gly1124=) c.2154T>C (p.Gly718=) | |
| 15 | g.73322721A>T | CA491478143 | HCN4 | c.3372T>A (p.Gly1124=) c.2154T>A (p.Gly718=) | ClinVar |
| 15 | g.73322721_73322722delinsAC | CA2187186569 | HCN4 | c.3371_3372delinsGT (p.Gly1124=) c.2153_2154delinsGT (p.Gly718=) | |
| 15 | g.73322722C>A | CA393085458 | HCN4 | c.3371G>T (p.Gly1124Val) c.2153G>T (p.Gly718Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322722C= | CA2187186579 | HCN4 | c.3371G= (p.Gly1124=) c.2153G= (p.Gly718=) | |
| 15 | g.73322722C>G | CA393085459 | HCN4 | c.3371G>C (p.Gly1124Ala) c.2153G>C (p.Gly718Ala) | |
| 15 | g.73322722C>T | CA272663334 | HCN4 | c.3371G>A (p.Gly1124Asp) c.2153G>A (p.Gly718Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322726del | CA619410593 | HCN4 | c.3371del (p.Gly1124ValfsTer?) c.2153del (p.Gly718ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322723C>A | CA393085460 | HCN4 | c.3370G>T (p.Gly1124Cys) c.2152G>T (p.Gly718Cys) | |
| 15 | g.73322723C= | CA2187186583 | HCN4 | c.3370G= (p.Gly1124=) c.2152G= (p.Gly718=) | |
| 15 | g.73322723C>G | CA393085461 | HCN4 | c.3370G>C (p.Gly1124Arg) c.2152G>C (p.Gly718Arg) | gnomAD v4 |
| 15 | g.73322723C>T | CA393085462 | HCN4 | c.3370G>A (p.Gly1124Ser) c.2152G>A (p.Gly718Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322724C>A | CA491478144 | HCN4 | c.3369G>T (p.Gly1123=) c.2151G>T (p.Gly717=) | |
| 15 | g.73322724C= | CA2187186585 | HCN4 | c.3369G= (p.Gly1123=) c.2151G= (p.Gly717=) | |
| 15 | g.73322724C>G | CA491478145 | HCN4 | c.3369G>C (p.Gly1123=) c.2151G>C (p.Gly717=) | |
| 15 | g.73322724C>T | CA7648842 | HCN4 | c.3369G>A (p.Gly1123=) c.2151G>A (p.Gly717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322727_73322731del | CA2629370527 | HCN4 | c.3365_3369del (p.Ala1122GlyfsTer?) c.2147_2151del (p.Ala716GlyfsTer?) | gnomAD v4 |
| 15 | g.73322725C>A | CA393085465 | HCN4 | c.3368G>T (p.Gly1123Val) c.2150G>T (p.Gly717Val) | |
| 15 | g.73322725C>G | CA393085464 | HCN4 | c.3368G>C (p.Gly1123Ala) c.2150G>C (p.Gly717Ala) | |
| 15 | g.73322725C>T | CA393085463 | HCN4 | c.3368G>A (p.Gly1123Glu) c.2150G>A (p.Gly717Glu) | gnomAD v4 |
| 15 | g.73322726C>A | CA393085467 | HCN4 | c.3367G>T (p.Gly1123Trp) c.2149G>T (p.Gly717Trp) | |
| 15 | g.73322726C>G | CA393085466 | HCN4 | c.3367G>C (p.Gly1123Arg) c.2149G>C (p.Gly717Arg) | gnomAD v4 |
| 15 | g.73322726C>T | CA393085468 | HCN4 | c.3367G>A (p.Gly1123Arg) c.2149G>A (p.Gly717Arg) | |
| 15 | g.73322727A>C | CA491478146 | HCN4 | c.3366T>G (p.Ala1122=) c.2148T>G (p.Ala716=) | |
| 15 | g.73322727A>G | CA491478147 | HCN4 | c.3366T>C (p.Ala1122=) c.2148T>C (p.Ala716=) | |
| 15 | g.73322727A>T | CA491478148 | HCN4 | c.3366T>A (p.Ala1122=) c.2148T>A (p.Ala716=) | |
| 15 | g.73322728G>A | CA393085469 | HCN4 | c.3365C>T (p.Ala1122Val) c.2147C>T (p.Ala716Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322728G>C | CA393085471 | HCN4 | c.3365C>G (p.Ala1122Gly) c.2147C>G (p.Ala716Gly) | |
| 15 | g.73322728G= | CA2187186591 | HCN4 | c.3365C= (p.Ala1122=) c.2147C= (p.Ala716=) | |
| 15 | g.73322728G>T | CA393085470 | HCN4 | c.3365C>A (p.Ala1122Asp) c.2147C>A (p.Ala716Asp) | |
| 15 | g.73322728_73322729delinsGC | CA2187186589 | HCN4 | c.3364_3365delinsGC (p.Ala1122=) c.2146_2147delinsGC (p.Ala716=) | |
| 15 | g.73322729C>A | CA393085472 | HCN4 | c.3364G>T (p.Ala1122Ser) c.2146G>T (p.Ala716Ser) | |
| 15 | g.73322729C= | CA2187186595 | HCN4 | c.3364G= (p.Ala1122=) c.2146G= (p.Ala716=) | |
| 15 | g.73322729C>G | CA393085473 | HCN4 | c.3364G>C (p.Ala1122Pro) c.2146G>C (p.Ala716Pro) | |
| 15 | g.73322729C>T | CA393085474 | HCN4 | c.3364G>A (p.Ala1122Thr) c.2146G>A (p.Ala716Thr) | dbSNP gnomAD v2 |
| 15 | g.73322731del | CA272663341 | HCN4 | c.3364del (p.Ala1122LeufsTer?) c.2146del (p.Ala716LeufsTer?) | dbSNP |
| 15 | g.73322734_73322767del | CA2804726812 | HCN4 | c.3331_3364del (p.Glu1111LeufsTer?) c.2113_2146del (p.Glu705LeufsTer?) | |
| 15 | g.73322730C>A | CA393085475 | HCN4 | c.3363G>T (p.Arg1121Ser) c.2145G>T (p.Arg715Ser) | |
| 15 | g.73322730C= | CA2187186600 | HCN4 | c.3363G= (p.Arg1121=) c.2145G= (p.Arg715=) | |
| 15 | g.73322730C>G | CA247661 | HCN4 | c.3363G>C (p.Arg1121Ser) c.2145G>C (p.Arg715Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322730C>T | CA491478149 | HCN4 | c.3363G>A (p.Arg1121=) c.2145G>A (p.Arg715=) | gnomAD v4 |
| 15 | g.73322731C>A | CA393085477 | HCN4 | c.3362G>T (p.Arg1121Met) c.2144G>T (p.Arg715Met) | |
| 15 | g.73322731C>G | CA393085476 | HCN4 | c.3362G>C (p.Arg1121Thr) c.2144G>C (p.Arg715Thr) | |
| 15 | g.73322731C>T | CA393085478 | HCN4 | c.3362G>A (p.Arg1121Lys) c.2144G>A (p.Arg715Lys) | |
| 15 | g.73322732T>A | CA393085479 | HCN4 | c.3361A>T (p.Arg1121Trp) c.2143A>T (p.Arg715Trp) | |
| 15 | g.73322732T>C | CA393085480 | HCN4 | c.3361A>G (p.Arg1121Gly) c.2143A>G (p.Arg715Gly) | |
| 15 | g.73322732T>G | CA491478150 | HCN4 | c.3361A>C (p.Arg1121=) c.2143A>C (p.Arg715=) | |
| 15 | g.73322733G>A | CA491478151 | HCN4 | c.3360C>T (p.Pro1120=) c.2142C>T (p.Pro714=) | gnomAD v4 |
| 15 | g.73322733G>C | CA491478153 | HCN4 | c.3360C>G (p.Pro1120=) c.2142C>G (p.Pro714=) | |
| 15 | g.73322733G>T | CA491478152 | HCN4 | c.3360C>A (p.Pro1120=) c.2142C>A (p.Pro714=) | |
| 15 | g.73322734G>A | CA393085481 | HCN4 | c.3359C>T (p.Pro1120Leu) c.2141C>T (p.Pro714Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73322734G>C | CA393085483 | HCN4 | c.3359C>G (p.Pro1120Arg) c.2141C>G (p.Pro714Arg) | |
| 15 | g.73322734G= | CA2187186607 | HCN4 | c.3359C= (p.Pro1120=) c.2141C= (p.Pro714=) | |
| 15 | g.73322734G>T | CA393085482 | HCN4 | c.3359C>A (p.Pro1120His) c.2141C>A (p.Pro714His) | gnomAD v4 |
| 15 | g.73322735G>A | CA393085484 | HCN4 | c.3358C>T (p.Pro1120Ser) c.2140C>T (p.Pro714Ser) | gnomAD v4 |
| 15 | g.73322735G>C | CA393085486 | HCN4 | c.3358C>G (p.Pro1120Ala) c.2140C>G (p.Pro714Ala) | |
| 15 | g.73322735G>T | CA393085485 | HCN4 | c.3358C>A (p.Pro1120Thr) c.2140C>A (p.Pro714Thr) | |
| 15 | g.73322736G>A | CA491478154 | HCN4 | c.3357C>T (p.Phe1119=) c.2139C>T (p.Phe713=) | |
| 15 | g.73322736G>C | CA393085487 | HCN4 | c.3357C>G (p.Phe1119Leu) c.2139C>G (p.Phe713Leu) | |
| 15 | g.73322736G>T | CA393085488 | HCN4 | c.3357C>A (p.Phe1119Leu) c.2139C>A (p.Phe713Leu) | |
| 15 | g.73322737A>C | CA393085489 | HCN4 | c.3356T>G (p.Phe1119Cys) c.2138T>G (p.Phe713Cys) | |
| 15 | g.73322737A>G | CA393085490 | HCN4 | c.3356T>C (p.Phe1119Ser) c.2138T>C (p.Phe713Ser) | |
| 15 | g.73322737A>T | CA393085491 | HCN4 | c.3356T>A (p.Phe1119Tyr) c.2138T>A (p.Phe713Tyr) | |
| 15 | g.73322738A= | CA2187186613 | HCN4 | c.3355T= (p.Phe1119=) c.2137T= (p.Phe713=) | |
| 15 | g.73322738A>C | CA393085492 | HCN4 | c.3355T>G (p.Phe1119Val) c.2137T>G (p.Phe713Val) | |
| 15 | g.73322738A>G | CA393085493 | HCN4 | c.3355T>C (p.Phe1119Leu) c.2137T>C (p.Phe713Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322738A>T | CA393085494 | HCN4 | c.3355T>A (p.Phe1119Ile) c.2137T>A (p.Phe713Ile) | |
| 15 | g.73322739G>A | CA272663354 | HCN4 | c.3354C>T (p.Leu1118=) c.2136C>T (p.Leu712=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322739G>C | CA491478155 | HCN4 | c.3354C>G (p.Leu1118=) c.2136C>G (p.Leu712=) | |
| 15 | g.73322739G= | CA2187186617 | HCN4 | c.3354C= (p.Leu1118=) c.2136C= (p.Leu712=) | |
| 15 | g.73322739G>T | CA491478156 | HCN4 | c.3354C>A (p.Leu1118=) c.2136C>A (p.Leu712=) | |
| 15 | g.73322740A= | CA2187186622 | HCN4 | c.3353T= (p.Leu1118=) c.2135T= (p.Leu712=) | |
| 15 | g.73322740A>C | CA393085495 | HCN4 | c.3353T>G (p.Leu1118Arg) c.2135T>G (p.Leu712Arg) | |
| 15 | g.73322740A>G | CA393085496 | HCN4 | c.3353T>C (p.Leu1118Pro) c.2135T>C (p.Leu712Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322740A>T | CA393085497 | HCN4 | c.3353T>A (p.Leu1118His) c.2135T>A (p.Leu712His) | ClinVar |
| 15 | g.73322741G>A | CA393085498 | HCN4 | c.3352C>T (p.Leu1118Phe) c.2134C>T (p.Leu712Phe) | |
| 15 | g.73322741G>C | CA393085500 | HCN4 | c.3352C>G (p.Leu1118Val) c.2134C>G (p.Leu712Val) | gnomAD v4 |
| 15 | g.73322741G>T | CA393085499 | HCN4 | c.3352C>A (p.Leu1118Ile) c.2134C>A (p.Leu712Ile) | |
| 15 | g.73322742C>A | CA491478157 | HCN4 | c.3351G>T (p.Pro1117=) c.2133G>T (p.Pro711=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322742C= | CA2187186627 | HCN4 | c.3351G= (p.Pro1117=) c.2133G= (p.Pro711=) | |
| 15 | g.73322742C>G | CA491478158 | HCN4 | c.3351G>C (p.Pro1117=) c.2133G>C (p.Pro711=) | |
| 15 | g.73322742C>T | CA7648843 | HCN4 | c.3351G>A (p.Pro1117=) c.2133G>A (p.Pro711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322743G>A | CA203635 | HCN4 | c.3350C>T (p.Pro1117Leu) c.2132C>T (p.Pro711Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322743G>C | CA393085501 | HCN4 | c.3350C>G (p.Pro1117Arg) c.2132C>G (p.Pro711Arg) | |
| 15 | g.73322743G= | CA2187186633 | HCN4 | c.3350C= (p.Pro1117=) c.2132C= (p.Pro711=) | |
| 15 | g.73322743G>T | CA393085502 | HCN4 | c.3350C>A (p.Pro1117Gln) c.2132C>A (p.Pro711Gln) | gnomAD v4 |
| 15 | g.73322744G>A | CA393085503 | HCN4 | c.3349C>T (p.Pro1117Ser) c.2131C>T (p.Pro711Ser) | gnomAD v4 |
| 15 | g.73322744G>C | CA393085504 | HCN4 | c.3349C>G (p.Pro1117Ala) c.2131C>G (p.Pro711Ala) | ClinVar |
| 15 | g.73322744G>T | CA393085505 | HCN4 | c.3349C>A (p.Pro1117Thr) c.2131C>A (p.Pro711Thr) | |
| 15 | g.73322745G>A | CA491478159 | HCN4 | c.3348C>T (p.Phe1116=) c.2130C>T (p.Phe710=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322745G>C | CA393085506 | HCN4 | c.3348C>G (p.Phe1116Leu) c.2130C>G (p.Phe710Leu) | |
| 15 | g.73322745G= | CA2187186636 | HCN4 | c.3348C= (p.Phe1116=) c.2130C= (p.Phe710=) | |
| 15 | g.73322745G>T | CA393085507 | HCN4 | c.3348C>A (p.Phe1116Leu) c.2130C>A (p.Phe710Leu) | gnomAD v4 |
| 15 | g.73322746A= | CA2187186639 | HCN4 | c.3347T= (p.Phe1116=) c.2129T= (p.Phe710=) | |
| 15 | g.73322746A>C | CA393085511 | HCN4 | c.3347T>G (p.Phe1116Cys) c.2129T>G (p.Phe710Cys) | dbSNP |
| 15 | g.73322746A>G | CA393085513 | HCN4 | c.3347T>C (p.Phe1116Ser) c.2129T>C (p.Phe710Ser) | |
| 15 | g.73322746A>T | CA393085509 | HCN4 | c.3347T>A (p.Phe1116Tyr) c.2129T>A (p.Phe710Tyr) | |
| 15 | g.73322747A>C | CA393085515 | HCN4 | c.3346T>G (p.Phe1116Val) c.2128T>G (p.Phe710Val) | |
| 15 | g.73322747A>G | CA393085517 | HCN4 | c.3346T>C (p.Phe1116Leu) c.2128T>C (p.Phe710Leu) | |
| 15 | g.73322747A>T | CA393085519 | HCN4 | c.3346T>A (p.Phe1116Ile) c.2128T>A (p.Phe710Ile) | |
| 15 | g.73322748G>A | CA491478160 | HCN4 | c.3345C>T (p.Ala1115=) c.2127C>T (p.Ala709=) | |
| 15 | g.73322748G>C | CA491478161 | HCN4 | c.3345C>G (p.Ala1115=) c.2127C>G (p.Ala709=) | |
| 15 | g.73322748G>T | CA491478162 | HCN4 | c.3345C>A (p.Ala1115=) c.2127C>A (p.Ala709=) | |
| 15 | g.73322749G>A | CA393085521 | HCN4 | c.3344C>T (p.Ala1115Val) c.2126C>T (p.Ala709Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322749G>C | CA393085523 | HCN4 | c.3344C>G (p.Ala1115Gly) c.2126C>G (p.Ala709Gly) | |
| 15 | g.73322749G= | CA2187186641 | HCN4 | c.3344C= (p.Ala1115=) c.2126C= (p.Ala709=) | |
| 15 | g.73322749G>T | CA393085524 | HCN4 | c.3344C>A (p.Ala1115Asp) c.2126C>A (p.Ala709Asp) | |
| 15 | g.73322750C>A | CA7648844 | HCN4 | c.3343G>T (p.Ala1115Ser) c.2125G>T (p.Ala709Ser) | dbSNP ExAC |
| 15 | g.73322750C= | CA2187186646 | HCN4 | c.3343G= (p.Ala1115=) c.2125G= (p.Ala709=) | |
| 15 | g.73322750C>G | CA393085528 | HCN4 | c.3343G>C (p.Ala1115Pro) c.2125G>C (p.Ala709Pro) | |
| 15 | g.73322750C>T | CA393085530 | HCN4 | c.3343G>A (p.Ala1115Thr) c.2125G>A (p.Ala709Thr) | |
| 15 | g.73322751A>C | CA491478163 | HCN4 | c.3342T>G (p.Ala1114=) c.2124T>G (p.Ala708=) | |
| 15 | g.73322751A>G | CA491478164 | HCN4 | c.3342T>C (p.Ala1114=) c.2124T>C (p.Ala708=) | |
| 15 | g.73322751A>T | CA491478165 | HCN4 | c.3342T>A (p.Ala1114=) c.2124T>A (p.Ala708=) | |
| 15 | g.73322752G>A | CA7648845 | HCN4 | c.3341C>T (p.Ala1114Val) c.2123C>T (p.Ala708Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322752G>C | CA393085533 | HCN4 | c.3341C>G (p.Ala1114Gly) c.2123C>G (p.Ala708Gly) | |
| 15 | g.73322752G= | CA2187186650 | HCN4 | c.3341C= (p.Ala1114=) c.2123C= (p.Ala708=) | |
| 15 | g.73322752G>T | CA393085535 | HCN4 | c.3341C>A (p.Ala1114Asp) c.2123C>A (p.Ala708Asp) | |
| 15 | g.73322753C>A | CA393085542 | HCN4 | c.3340G>T (p.Ala1114Ser) c.2122G>T (p.Ala708Ser) | |
| 15 | g.73322753C>G | CA393085537 | HCN4 | c.3340G>C (p.Ala1114Pro) c.2122G>C (p.Ala708Pro) | ClinVar dbSNP |
| 15 | g.73322753C>T | CA393085539 | HCN4 | c.3340G>A (p.Ala1114Thr) c.2122G>A (p.Ala708Thr) | |
| 15 | g.73322754C>A | CA393085544 | HCN4 | c.3339G>T (p.Met1113Ile) c.2121G>T (p.Met707Ile) | |
| 15 | g.73322754C>G | CA393085545 | HCN4 | c.3339G>C (p.Met1113Ile) c.2121G>C (p.Met707Ile) | |
| 15 | g.73322754C>T | CA393085547 | HCN4 | c.3339G>A (p.Met1113Ile) c.2121G>A (p.Met707Ile) | |
| 15 | g.73322755A= | CA2187186653 | HCN4 | c.3338T= (p.Met1113=) c.2120T= (p.Met707=) | |
| 15 | g.73322755A>C | CA393085550 | HCN4 | c.3338T>G (p.Met1113Arg) c.2120T>G (p.Met707Arg) | |
| 15 | g.73322755A>G | CA393085551 | HCN4 | c.3338T>C (p.Met1113Thr) c.2120T>C (p.Met707Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322755A>T | CA393085553 | HCN4 | c.3338T>A (p.Met1113Lys) c.2120T>A (p.Met707Lys) | |
| 15 | g.73322756T>A | CA393085555 | HCN4 | c.3337A>T (p.Met1113Leu) c.2119A>T (p.Met707Leu) | |
| 15 | g.73322756T>C | CA180105 | HCN4 | c.3337A>G (p.Met1113Val) c.2119A>G (p.Met707Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322756T>G | CA393085558 | HCN4 | c.3337A>C (p.Met1113Leu) c.2119A>C (p.Met707Leu) | |
| 15 | g.73322756T= | CA2187186659 | HCN4 | c.3337A= (p.Met1113=) c.2119A= (p.Met707=) | |
| 15 | g.73322757G>A | CA491478166 | HCN4 | c.3336C>T (p.Ser1112=) c.2118C>T (p.Ser706=) | dbSNP |
| 15 | g.73322757G>C | CA491478167 | HCN4 | c.3336C>G (p.Ser1112=) c.2118C>G (p.Ser706=) | |
| 15 | g.73322757G= | CA2187186661 | HCN4 | c.3336C= (p.Ser1112=) c.2118C= (p.Ser706=) | |
| 15 | g.73322757G>T | CA491478168 | HCN4 | c.3336C>A (p.Ser1112=) c.2118C>A (p.Ser706=) | |
| 15 | g.73322758G>A | CA393085560 | HCN4 | c.3335C>T (p.Ser1112Phe) c.2117C>T (p.Ser706Phe) | |
| 15 | g.73322758G>C | CA393085562 | HCN4 | c.3335C>G (p.Ser1112Cys) c.2117C>G (p.Ser706Cys) | |
| 15 | g.73322758G>T | CA393085564 | HCN4 | c.3335C>A (p.Ser1112Tyr) c.2117C>A (p.Ser706Tyr) | |
| 15 | g.73322759A>C | CA393085570 | HCN4 | c.3334T>G (p.Ser1112Ala) c.2116T>G (p.Ser706Ala) | |
| 15 | g.73322759A>G | CA393085568 | HCN4 | c.3334T>C (p.Ser1112Pro) c.2116T>C (p.Ser706Pro) | |
| 15 | g.73322759A>T | CA393085565 | HCN4 | c.3334T>A (p.Ser1112Thr) c.2116T>A (p.Ser706Thr) | |
| 15 | g.73322760C>A | CA393085572 | HCN4 | c.3333G>T (p.Glu1111Asp) c.2115G>T (p.Glu705Asp) | gnomAD v4 |
| 15 | g.73322760C>G | CA393085574 | HCN4 | c.3333G>C (p.Glu1111Asp) c.2115G>C (p.Glu705Asp) | |
| 15 | g.73322760C>T | CA491478169 | HCN4 | c.3333G>A (p.Glu1111=) c.2115G>A (p.Glu705=) | |
| 15 | g.73322761T>A | CA393085576 | HCN4 | c.3332A>T (p.Glu1111Val) c.2114A>T (p.Glu705Val) | |
| 15 | g.73322761T>C | CA393085578 | HCN4 | c.3332A>G (p.Glu1111Gly) c.2114A>G (p.Glu705Gly) | |
| 15 | g.73322761T>G | CA393085580 | HCN4 | c.3332A>C (p.Glu1111Ala) c.2114A>C (p.Glu705Ala) | |
| 15 | g.73322762C>A | CA393085583 | HCN4 | c.3331G>T (p.Glu1111Ter) c.2113G>T (p.Glu705Ter) | gnomAD v4 |
| 15 | g.73322762C>G | CA393085585 | HCN4 | c.3331G>C (p.Glu1111Gln) c.2113G>C (p.Glu705Gln) | |
| 15 | g.73322762C>T | CA393085587 | HCN4 | c.3331G>A (p.Glu1111Lys) c.2113G>A (p.Glu705Lys) | |
| 15 | g.73322765del | CA2629370528 | HCN4 | c.3331del (p.Glu1111SerfsTer?) c.2113del (p.Glu705SerfsTer?) | gnomAD v4 |
| 15 | g.73322763C>A | CA491477761 | HCN4 | c.3330G>T (p.Gly1110=) c.2112G>T (p.Gly704=) | |
| 15 | g.73322763C>G | CA491477762 | HCN4 | c.3330G>C (p.Gly1110=) c.2112G>C (p.Gly704=) | |
| 15 | g.73322763C>T | CA491477763 | HCN4 | c.3330G>A (p.Gly1110=) c.2112G>A (p.Gly704=) | gnomAD v4 COSMIC |
| 15 | g.73322764C>A | CA393085588 | HCN4 | c.3329G>T (p.Gly1110Val) c.2111G>T (p.Gly704Val) | |
| 15 | g.73322764C>G | CA393085590 | HCN4 | c.3329G>C (p.Gly1110Ala) c.2111G>C (p.Gly704Ala) | gnomAD v4 |
| 15 | g.73322764C>T | CA393085592 | HCN4 | c.3329G>A (p.Gly1110Glu) c.2111G>A (p.Gly704Glu) | |
| 15 | g.73322765C>A | CA393085595 | HCN4 | c.3328G>T (p.Gly1110Trp) c.2110G>T (p.Gly704Trp) | gnomAD v4 |
| 15 | g.73322765C>G | CA393085598 | HCN4 | c.3328G>C (p.Gly1110Arg) c.2110G>C (p.Gly704Arg) | |
| 15 | g.73322765C>T | CA393085600 | HCN4 | c.3328G>A (p.Gly1110Arg) c.2110G>A (p.Gly704Arg) | ClinVar dbSNP |
| 15 | g.73322766T>A | CA491477764 | HCN4 | c.3327A>T (p.Ser1109=) c.2109A>T (p.Ser703=) | |
| 15 | g.73322766T>C | CA16607863 | HCN4 | c.3327A>G (p.Ser1109=) c.2109A>G (p.Ser703=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322766T>G | CA491477765 | HCN4 | c.3327A>C (p.Ser1109=) c.2109A>C (p.Ser703=) | |
| 15 | g.73322766T= | CA2187186668 | HCN4 | c.3327A= (p.Ser1109=) c.2109A= (p.Ser703=) | |
| 15 | g.73322766_73322769delinsTGAG | CA2187186666 | HCN4 | c.3324_3327delinsCTCA (p.Ser1108=) c.2106_2109delinsCTCA (p.Ser702=) | |
| 15 | g.73322767G>A | CA393085606 | HCN4 | c.3326C>T (p.Ser1109Leu) c.2108C>T (p.Ser703Leu) | |
| 15 | g.73322767G>C | CA393085602 | HCN4 | c.3326C>G (p.Ser1109Ter) c.2108C>G (p.Ser703Ter) | |
| 15 | g.73322767G>T | CA393085604 | HCN4 | c.3326C>A (p.Ser1109Ter) c.2108C>A (p.Ser703Ter) | gnomAD v4 |
| 15 | g.73322770_73322772del | CA715543212 | HCN4 | c.3324_3326del (p.Ser1109del) c.2106_2108del (p.Ser703del) | dbSNP |
| 15 | g.73322768A>C | CA393085608 | HCN4 | c.3325T>G (p.Ser1109Ala) c.2107T>G (p.Ser703Ala) | |
| 15 | g.73322768A>G | CA393085609 | HCN4 | c.3325T>C (p.Ser1109Pro) c.2107T>C (p.Ser703Pro) | |
| 15 | g.73322768A>T | CA393085611 | HCN4 | c.3325T>A (p.Ser1109Thr) c.2107T>A (p.Ser703Thr) | |
| 15 | g.73322769G>A | CA491477766 | HCN4 | c.3324C>T (p.Ser1108=) c.2106C>T (p.Ser702=) | dbSNP gnomAD v4 COSMIC |
| 15 | g.73322769G>C | CA491477767 | HCN4 | c.3324C>G (p.Ser1108=) c.2106C>G (p.Ser702=) | |
| 15 | g.73322769G= | CA2187186674 | HCN4 | c.3324C= (p.Ser1108=) c.2106C= (p.Ser702=) | |
| 15 | g.73322769G>T | CA491477768 | HCN4 | c.3324C>A (p.Ser1108=) c.2106C>A (p.Ser702=) | |
| 15 | g.73322770G>A | CA393085614 | HCN4 | c.3323C>T (p.Ser1108Phe) c.2105C>T (p.Ser702Phe) | dbSNP gnomAD v2 |
| 15 | g.73322770G>C | CA393085615 | HCN4 | c.3323C>G (p.Ser1108Cys) c.2105C>G (p.Ser702Cys) | |
| 15 | g.73322770G= | CA2187186678 | HCN4 | c.3323C= (p.Ser1108=) c.2105C= (p.Ser702=) | |
| 15 | g.73322770G>T | CA393085617 | HCN4 | c.3323C>A (p.Ser1108Tyr) c.2105C>A (p.Ser702Tyr) | |
| 15 | g.73322771A>C | CA393085620 | HCN4 | c.3322T>G (p.Ser1108Ala) c.2104T>G (p.Ser702Ala) | ClinVar gnomAD v4 |
| 15 | g.73322771A>G | CA393085621 | HCN4 | c.3322T>C (p.Ser1108Pro) c.2104T>C (p.Ser702Pro) | |
| 15 | g.73322771A>T | CA393085624 | HCN4 | c.3322T>A (p.Ser1108Thr) c.2104T>A (p.Ser702Thr) | |
| 15 | g.73322772G>A | CA491477769 | HCN4 | c.3321C>T (p.His1107=) c.2103C>T (p.His701=) | |
| 15 | g.73322772G>C | CA393085626 | HCN4 | c.3321C>G (p.His1107Gln) c.2103C>G (p.His701Gln) | gnomAD v4 |
| 15 | g.73322772G>T | CA393085628 | HCN4 | c.3321C>A (p.His1107Gln) c.2103C>A (p.His701Gln) | gnomAD v4 |
| 15 | g.73322773T>A | CA7648846 | HCN4 | c.3320A>T (p.His1107Leu) c.2102A>T (p.His701Leu) | dbSNP ExAC gnomAD v2 |
| 15 | g.73322773T>C | CA393085632 | HCN4 | c.3320A>G (p.His1107Arg) c.2102A>G (p.His701Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73322773T>G | CA393085630 | HCN4 | c.3320A>C (p.His1107Pro) c.2102A>C (p.His701Pro) | |
| 15 | g.73322773T= | CA2187186681 | HCN4 | c.3320A= (p.His1107=) c.2102A= (p.His701=) | |
| 15 | g.73322774G>A | CA393085637 | HCN4 | c.3319C>T (p.His1107Tyr) c.2101C>T (p.His701Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322774G>C | CA393085639 | HCN4 | c.3319C>G (p.His1107Asp) c.2101C>G (p.His701Asp) | |
| 15 | g.73322774G= | CA2187186687 | HCN4 | c.3319C= (p.His1107=) c.2101C= (p.His701=) | |
| 15 | g.73322774G>T | CA393085641 | HCN4 | c.3319C>A (p.His1107Asn) c.2101C>A (p.His701Asn) | gnomAD v4 |
| 15 | g.73322774_73322775delinsGC | CA2187186686 | HCN4 | c.3318_3319delinsGC (p.Pro1106=) c.2100_2101delinsGC (p.Pro700=) | |
| 15 | g.73322775del | CA7648847 | HCN4 | c.3318del (p.His1107ThrfsTer?) c.2100del (p.His701ThrfsTer?) | dbSNP ExAC gnomAD v2 |
| 15 | g.73322775C>A | CA491477772 | HCN4 | c.3318G>T (p.Pro1106=) c.2100G>T (p.Pro700=) | gnomAD v4 |
| 15 | g.73322775C= | CA2187186690 | HCN4 | c.3318G= (p.Pro1106=) c.2100G= (p.Pro700=) | |
| 15 | g.73322775C>G | CA491477770 | HCN4 | c.3318G>C (p.Pro1106=) c.2100G>C (p.Pro700=) | |
| 15 | g.73322775C>T | CA491477771 | HCN4 | c.3318G>A (p.Pro1106=) c.2100G>A (p.Pro700=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322776G>A | CA272663408 | HCN4 | c.3317C>T (p.Pro1106Leu) c.2099C>T (p.Pro700Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322776G>C | CA393085644 | HCN4 | c.3317C>G (p.Pro1106Arg) c.2099C>G (p.Pro700Arg) | gnomAD v4 |
| 15 | g.73322776G= | CA2187186693 | HCN4 | c.3317C= (p.Pro1106=) c.2099C= (p.Pro700=) | |
| 15 | g.73322776G>T | CA393085645 | HCN4 | c.3317C>A (p.Pro1106Gln) c.2099C>A (p.Pro700Gln) | gnomAD v4 |
| 15 | g.73322779del | CA2573151085 | HCN4 | c.3317del (p.Pro1106ArgfsTer?) c.2099del (p.Pro700ArgfsTer?) | ClinVar dbSNP |
| 15 | g.73322777G>A | CA393085647 | HCN4 | c.3316C>T (p.Pro1106Ser) c.2098C>T (p.Pro700Ser) | |
| 15 | g.73322777G>C | CA393085650 | HCN4 | c.3316C>G (p.Pro1106Ala) c.2098C>G (p.Pro700Ala) | |
| 15 | g.73322777G>T | CA393085652 | HCN4 | c.3316C>A (p.Pro1106Thr) c.2098C>A (p.Pro700Thr) | gnomAD v4 |
| 15 | g.73322778G>A | CA491477773 | HCN4 | c.3315C>T (p.Ser1105=) c.2097C>T (p.Ser699=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322778G>C | CA491477774 | HCN4 | c.3315C>G (p.Ser1105=) c.2097C>G (p.Ser699=) | |
| 15 | g.73322778G= | CA2187186697 | HCN4 | c.3315C= (p.Ser1105=) c.2097C= (p.Ser699=) | |
| 15 | g.73322778G>T | CA491477775 | HCN4 | c.3315C>A (p.Ser1105=) c.2097C>A (p.Ser699=) | |
| 15 | g.73322778_73322779insC | CA2187186699 | HCN4 | c.3314_3315insG (p.His1107AlafsTer?) c.2096_2097insG (p.His701AlafsTer?) | dbSNP |
| 15 | g.73322779G>A | CA393085654 | HCN4 | c.3314C>T (p.Ser1105Phe) c.2096C>T (p.Ser699Phe) | gnomAD v4 |
| 15 | g.73322779G>C | CA393085656 | HCN4 | c.3314C>G (p.Ser1105Cys) c.2096C>G (p.Ser699Cys) | |
| 15 | g.73322779G= | CA2187186698 | HCN4 | c.3314C= (p.Ser1105=) c.2096C= (p.Ser699=) | |
| 15 | g.73322779G>T | CA393085657 | HCN4 | c.3314C>A (p.Ser1105Tyr) c.2096C>A (p.Ser699Tyr) | dbSNP gnomAD v2 |
| 15 | g.73322780A>C | CA393085664 | HCN4 | c.3313T>G (p.Ser1105Ala) c.2095T>G (p.Ser699Ala) | COSMIC |
| 15 | g.73322780A>G | CA393085661 | HCN4 | c.3313T>C (p.Ser1105Pro) c.2095T>C (p.Ser699Pro) | gnomAD v4 |
| 15 | g.73322780A>T | CA393085662 | HCN4 | c.3313T>A (p.Ser1105Thr) c.2095T>A (p.Ser699Thr) | |
| 15 | g.73322781G>A | CA491477776 | HCN4 | c.3312C>T (p.Ala1104=) c.2094C>T (p.Ala698=) | dbSNP |
| 15 | g.73322781G>C | CA491477777 | HCN4 | c.3312C>G (p.Ala1104=) c.2094C>G (p.Ala698=) | |
| 15 | g.73322781G>T | CA491477778 | HCN4 | c.3312C>A (p.Ala1104=) c.2094C>A (p.Ala698=) | |
| 15 | g.73322782G>A | CA393085666 | HCN4 | c.3311C>T (p.Ala1104Val) c.2093C>T (p.Ala698Val) | |
| 15 | g.73322782G>C | CA393085668 | HCN4 | c.3311C>G (p.Ala1104Gly) c.2093C>G (p.Ala698Gly) | |
| 15 | g.73322782G>T | CA393085670 | HCN4 | c.3311C>A (p.Ala1104Asp) c.2093C>A (p.Ala698Asp) | gnomAD v4 |
| 15 | g.73322783C>A | CA393085673 | HCN4 | c.3310G>T (p.Ala1104Ser) c.2092G>T (p.Ala698Ser) | gnomAD v4 |
| 15 | g.73322783C= | CA2187186703 | HCN4 | c.3310G= (p.Ala1104=) c.2092G= (p.Ala698=) | |
| 15 | g.73322783C>G | CA393085675 | HCN4 | c.3310G>C (p.Ala1104Pro) c.2092G>C (p.Ala698Pro) | |
| 15 | g.73322783C>T | CA7648848 | HCN4 | c.3310G>A (p.Ala1104Thr) c.2092G>A (p.Ala698Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322784T>A | CA393085679 | HCN4 | c.3309A>T (p.Arg1103Ser) c.2091A>T (p.Arg697Ser) | |
| 15 | g.73322784T>C | CA491477779 | HCN4 | c.3309A>G (p.Arg1103=) c.2091A>G (p.Arg697=) | gnomAD v4 |
| 15 | g.73322784T>G | CA393085681 | HCN4 | c.3309A>C (p.Arg1103Ser) c.2091A>C (p.Arg697Ser) | |
| 15 | g.73322784_73322802delinsTCTGCGGAGAGTCTGCGCC | CA2187186704 | HCN4 | c.3291_3309delinsGGCGCAGACTCTCCGCAGA (p.Gly1097=) c.2073_2091delinsGGCGCAGACTCTCCGCAGA (p.Gly691=) | |
| 15 | g.73322785C>A | CA393085683 | HCN4 | c.3308G>T (p.Arg1103Ile) c.2090G>T (p.Arg697Ile) | gnomAD v4 |
| 15 | g.73322785C>G | CA393085686 | HCN4 | c.3308G>C (p.Arg1103Thr) c.2090G>C (p.Arg697Thr) | |
| 15 | g.73322785C>T | CA393085688 | HCN4 | c.3308G>A (p.Arg1103Lys) c.2090G>A (p.Arg697Lys) | |
| 15 | g.73322786_73322803del | CA7648849 | HCN4 | c.3291_3308del (p.Ala1098_Arg1103del) c.2073_2090del (p.Ala692_Arg697del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73322786T>A | CA393085691 | HCN4 | c.3307A>T (p.Arg1103Ter) c.2089A>T (p.Arg697Ter) | |
| 15 | g.73322786T>C | CA10583260 | HCN4 | c.3307A>G (p.Arg1103Gly) c.2089A>G (p.Arg697Gly) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73322786T>G | CA491477780 | HCN4 | c.3307A>C (p.Arg1103=) c.2089A>C (p.Arg697=) | |
| 15 | g.73322786T= | CA2187186705 | HCN4 | c.3307A= (p.Arg1103=) c.2089A= (p.Arg697=) | |
| 15 | g.73322787G>A | CA491477781 | HCN4 | c.3306C>T (p.Arg1102=) c.2088C>T (p.Arg696=) | gnomAD v4 |
| 15 | g.73322787G>C | CA491477782 | HCN4 | c.3306C>G (p.Arg1102=) c.2088C>G (p.Arg696=) | dbSNP gnomAD v2 |
| 15 | g.73322787G= | CA2187186707 | HCN4 | c.3306C= (p.Arg1102=) c.2088C= (p.Arg696=) | |
| 15 | g.73322787G>T | CA491477783 | HCN4 | c.3306C>A (p.Arg1102=) c.2088C>A (p.Arg696=) | gnomAD v4 |
| 15 | g.73322788C>A | CA393085694 | HCN4 | c.3305G>T (p.Arg1102Leu) c.2087G>T (p.Arg696Leu) | gnomAD v4 |
| 15 | g.73322788C= | CA2187186710 | HCN4 | c.3305G= (p.Arg1102=) c.2087G= (p.Arg696=) | |
| 15 | g.73322788C>G | CA393085697 | HCN4 | c.3305G>C (p.Arg1102Pro) c.2087G>C (p.Arg696Pro) | |
| 15 | g.73322788C>T | CA7648850 | HCN4 | c.3305G>A (p.Arg1102His) c.2087G>A (p.Arg696His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322789G>A | CA7648851 | HCN4 | c.3304C>T (p.Arg1102Cys) c.2086C>T (p.Arg696Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73322789G>C | CA393085702 | HCN4 | c.3304C>G (p.Arg1102Gly) c.2086C>G (p.Arg696Gly) | |
| 15 | g.73322789G= | CA2187186712 | HCN4 | c.3304C= (p.Arg1102=) c.2086C= (p.Arg696=) | |
| 15 | g.73322789G>T | CA393085699 | HCN4 | c.3304C>A (p.Arg1102Ser) c.2086C>A (p.Arg696Ser) | gnomAD v4 |
| 15 | g.73322789_73322790dup | CA2629370529 | HCN4 | c.3303_3304dup (p.Arg1102ProfsTer?) c.2085_2086dup (p.Arg696ProfsTer?) | gnomAD v4 |