| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431558T>A | CA345144427 | ACTA1 | c.997A>T (p.Ile333Phe) c.940A>T (p.Ile314Phe) c.706A>T (p.Ile236Phe) c.1075A>T (p.Ile359Phe) | |
| 1 | g.229431558T>C | CA345144440 | ACTA1 | c.997A>G (p.Ile333Val) c.940A>G (p.Ile314Val) c.706A>G (p.Ile236Val) c.1075A>G (p.Ile359Val) | ClinVar |
| 1 | g.229431558T>G | CA258138 | ACTA1 | c.997A>C (p.Ile333Leu) c.940A>C (p.Ile314Leu) c.706A>C (p.Ile236Leu) c.1075A>C (p.Ile359Leu) | ClinVar dbSNP |
| 1 | g.229431558T= | CA1141581370 | ACTA1 | c.997A= (p.Ile333=) c.940A= (p.Ile314=) c.706A= (p.Ile236=) c.1075A= (p.Ile359=) | |
| 1 | g.229431559C>A | CA269775 | ACTA1 | c.996G>T (p.Trp332Cys) c.939G>T (p.Trp313Cys) c.705G>T (p.Trp235Cys) c.1074G>T (p.Trp358Cys) | ClinVar dbSNP |
| 1 | g.229431559C= | CA1148225031 | ACTA1 | c.996G= (p.Trp332=) c.939G= (p.Trp313=) c.705G= (p.Trp235=) c.1074G= (p.Trp358=) | |
| 1 | g.229431559C>G | CA345144451 | ACTA1 | c.996G>C (p.Trp332Cys) c.939G>C (p.Trp313Cys) c.705G>C (p.Trp235Cys) c.1074G>C (p.Trp358Cys) | |
| 1 | g.229431559C>T | CA345144447 | ACTA1 | c.996G>A (p.Trp332Ter) c.939G>A (p.Trp313Ter) c.705G>A (p.Trp235Ter) c.1074G>A (p.Trp358Ter) | |
| 1 | g.229431560C>A | CA345144454 | ACTA1 | c.995G>T (p.Trp332Leu) c.938G>T (p.Trp313Leu) c.704G>T (p.Trp235Leu) c.1073G>T (p.Trp358Leu) | |
| 1 | g.229431560C>G | CA345144460 | ACTA1 | c.995G>C (p.Trp332Ser) c.938G>C (p.Trp313Ser) c.704G>C (p.Trp235Ser) c.1073G>C (p.Trp358Ser) | |
| 1 | g.229431560C>T | CA345144456 | ACTA1 | c.995G>A (p.Trp332Ter) c.938G>A (p.Trp313Ter) c.704G>A (p.Trp235Ter) c.1073G>A (p.Trp358Ter) | gnomAD v4 |
| 1 | g.229431561A>C | CA345144466 | ACTA1 | c.994T>G (p.Trp332Gly) c.937T>G (p.Trp313Gly) c.703T>G (p.Trp235Gly) c.1072T>G (p.Trp358Gly) | |
| 1 | g.229431561A>G | CA345144469 | ACTA1 | c.994T>C (p.Trp332Arg) c.937T>C (p.Trp313Arg) c.703T>C (p.Trp235Arg) c.1072T>C (p.Trp358Arg) | |
| 1 | g.229431561A>T | CA345144472 | ACTA1 | c.994T>A (p.Trp332Arg) c.937T>A (p.Trp313Arg) c.703T>A (p.Trp235Arg) c.1072T>A (p.Trp358Arg) | |
| 1 | g.229431562C>A | CA345144475 | ACTA1 | c.993G>T (p.Met331Ile) c.936G>T (p.Met312Ile) c.702G>T (p.Met234Ile) c.1071G>T (p.Met357Ile) | |
| 1 | g.229431562C= | CA1148239652 | ACTA1 | c.993G= (p.Met331=) c.936G= (p.Met312=) c.702G= (p.Met234=) c.1071G= (p.Met357=) | |
| 1 | g.229431562C>G | CA345144479 | ACTA1 | c.993G>C (p.Met331Ile) c.936G>C (p.Met312Ile) c.702G>C (p.Met234Ile) c.1071G>C (p.Met357Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229431562C>T | CA1442710 | ACTA1 | c.993G>A (p.Met331Ile) c.936G>A (p.Met312Ile) c.702G>A (p.Met234Ile) c.1071G>A (p.Met357Ile) | dbSNP ExAC gnomAD v2 |
| 1 | g.229431563A= | CA1147059542 | ACTA1 | c.992T= (p.Met331=) c.935T= (p.Met312=) c.701T= (p.Met234=) c.1070T= (p.Met357=) | |
| 1 | g.229431563A>C | CA345144484 | ACTA1 | c.992T>G (p.Met331Arg) c.935T>G (p.Met312Arg) c.701T>G (p.Met234Arg) c.1070T>G (p.Met357Arg) | |
| 1 | g.229431563A>G | CA1442711 | ACTA1 | c.992T>C (p.Met331Thr) c.935T>C (p.Met312Thr) c.701T>C (p.Met234Thr) c.1070T>C (p.Met357Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 |
| 1 | g.229431563A>T | CA345144492 | ACTA1 | c.992T>A (p.Met331Lys) c.935T>A (p.Met312Lys) c.701T>A (p.Met234Lys) c.1070T>A (p.Met357Lys) | |
| 1 | g.229431564T>A | CA345144496 | ACTA1 | c.991A>T (p.Met331Leu) c.934A>T (p.Met312Leu) c.700A>T (p.Met234Leu) c.1069A>T (p.Met357Leu) | |
| 1 | g.229431564T>C | CA345144500 | ACTA1 | c.991A>G (p.Met331Val) c.934A>G (p.Met312Val) c.700A>G (p.Met234Val) c.1069A>G (p.Met357Val) | ClinVar dbSNP |
| 1 | g.229431564T>G | CA345144502 | ACTA1 | c.991A>C (p.Met331Leu) c.934A>C (p.Met312Leu) c.700A>C (p.Met234Leu) c.1069A>C (p.Met357Leu) | |
| 1 | g.229431564T= | CA1226125380 | ACTA1 | c.991A= (p.Met331=) c.934A= (p.Met312=) c.700A= (p.Met234=) c.1069A= (p.Met357=) | |
| 1 | g.229431565C>A | CA345144509 | ACTA1 | c.991-1G>T (n.991-1G>T) c.933G>T (p.Gln311His) c.699G>T (p.Gln233His) c.1068G>T (p.Gln356His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431565C= | CA1226125381 | ACTA1 | c.991-1G= (n.991-1G=) c.933G= (p.Gln311=) c.699G= (p.Gln233=) c.1068G= (p.Gln356=) | |
| 1 | g.229431565C>G | CA345144505 | ACTA1 | c.991-1G>C (n.991-1G>C) c.933G>C (p.Gln311His) c.699G>C (p.Gln233His) c.1068G>C (p.Gln356His) | |
| 1 | g.229431565C>T | CA423754805 | ACTA1 | c.991-1G>A (n.991-1G>A) c.933G>A (p.Gln311=) c.699G>A (p.Gln233=) c.1068G>A (p.Gln356=) | |
| 1 | g.229431566T>A | CA345144513 | ACTA1 | c.991-2A>T (n.991-2A>T) c.932A>T (p.Gln311Leu) c.698A>T (p.Gln233Leu) c.1067A>T (p.Gln356Leu) | |
| 1 | g.229431566T>C | CA345144516 | ACTA1 | c.991-2A>G (n.991-2A>G) c.932A>G (p.Gln311Arg) c.698A>G (p.Gln233Arg) c.1067A>G (p.Gln356Arg) | dbSNP |
| 1 | g.229431566T>G | CA345144518 | ACTA1 | c.991-2A>C (n.991-2A>C) c.932A>C (p.Gln311Pro) c.698A>C (p.Gln233Pro) c.1067A>C (p.Gln356Pro) | |
| 1 | g.229431566T= | CA1226125382 | ACTA1 | c.991-2A= (n.991-2A=) c.932A= (p.Gln311=) c.698A= (p.Gln233=) c.1067A= (p.Gln356=) | |
| 1 | g.229431567G>A | CA345144523 | ACTA1 | c.991-3C>T (n.991-3C>T) c.931C>T (p.Gln311Ter) c.697C>T (p.Gln233Ter) c.1066C>T (p.Gln356Ter) | |
| 1 | g.229431567G>C | CA345144526 | ACTA1 | c.991-3C>G (n.991-3C>G) c.931C>G (p.Gln311Glu) c.697C>G (p.Gln233Glu) c.1066C>G (p.Gln356Glu) | |
| 1 | g.229431567G>T | CA345144528 | ACTA1 | c.991-3C>A (n.991-3C>A) c.931C>A (p.Gln311Lys) c.697C>A (p.Gln233Lys) c.1066C>A (p.Gln356Lys) | |
| 1 | g.229431568C>A | CA345144531 | ACTA1 | c.991-4G>T (n.991-4G>T) c.930G>T (p.Gln310His) c.696G>T (p.Gln232His) c.1065G>T (p.Gln355His) | |
| 1 | g.229431568C= | CA1144093655 | ACTA1 | c.991-4G= (n.991-4G=) c.930G= (p.Gln310=) c.696G= (p.Gln232=) c.1065G= (p.Gln355=) | |
| 1 | g.229431568C>G | CA345144535 | ACTA1 | c.991-4G>C (n.991-4G>C) c.930G>C (p.Gln310His) c.696G>C (p.Gln232His) c.1065G>C (p.Gln355His) | |
| 1 | g.229431568C>T | CA1442712 | ACTA1 | c.991-4G>A (n.991-4G>A) c.930G>A (p.Gln310=) c.696G>A (p.Gln232=) c.1065G>A (p.Gln355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431569T>A | CA345144540 | ACTA1 | c.991-5A>T (n.991-5A>T) c.929A>T (p.Gln310Leu) c.695A>T (p.Gln232Leu) c.1064A>T (p.Gln355Leu) | dbSNP gnomAD v2 |
| 1 | g.229431569T>C | CA345144542 | ACTA1 | c.991-5A>G (n.991-5A>G) c.929A>G (p.Gln310Arg) c.695A>G (p.Gln232Arg) c.1064A>G (p.Gln355Arg) | |
| 1 | g.229431569T>G | CA345144545 | ACTA1 | c.991-5A>C (n.991-5A>C) c.929A>C (p.Gln310Pro) c.695A>C (p.Gln232Pro) c.1064A>C (p.Gln355Pro) | |
| 1 | g.229431569T= | CA1226125383 | ACTA1 | c.991-5A= (n.991-5A=) c.929A= (p.Gln310=) c.695A= (p.Gln232=) c.1064A= (p.Gln355=) | |
| 1 | g.229431570G>A | CA345144548 | ACTA1 | c.991-6C>T (n.991-6C>T) c.928C>T (p.Gln310Ter) c.694C>T (p.Gln232Ter) c.1063C>T (p.Gln355Ter) | |
| 1 | g.229431570G>C | CA345144547 | ACTA1 | c.991-6C>G (n.991-6C>G) c.928C>G (p.Gln310Glu) c.694C>G (p.Gln232Glu) c.1063C>G (p.Gln355Glu) | |
| 1 | g.229431570G= | CA1226125384 | ACTA1 | c.991-6C= (n.991-6C=) c.928C= (p.Gln310=) c.694C= (p.Gln232=) c.1063C= (p.Gln355=) | |
| 1 | g.229431570G>T | CA345144546 | ACTA1 | c.991-6C>A (n.991-6C>A) c.928C>A (p.Gln310Lys) c.694C>A (p.Gln232Lys) c.1063C>A (p.Gln355Lys) | dbSNP gnomAD v2 |
| 1 | g.229431571G>A | CA423754810 | ACTA1 | c.991-7C>T (n.991-7C>T) c.927C>T (p.Phe309=) c.693C>T (p.Phe231=) c.1062C>T (p.Phe354=) |