Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229431484G>A | CA2650926572 | ACTA1 | c.*15C>T (n.*15C>T) | gnomAD v4 |
1 | g.229431484G>C | CA2650926573 | ACTA1 | c.*15C>G (n.*15C>G) | gnomAD v4 |
1 | g.229431484G>T | CA2650926574 | ACTA1 | c.*15C>A (n.*15C>A) | gnomAD v4 |
1 | g.229431484_229431485insTCG | CA2698259236 | ACTA1 | c.*15_*16insGAC (n.*15_*16insGAC) | dbSNP |
1 | g.229431485G>C | CA529915230 | ACTA1 | c.*14C>G (n.*14C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431485G= | CA1143711365 | ACTA1 | c.*14C= (n.*14C=) | |
1 | g.229431485G>T | CA1442702 | ACTA1 | c.*14C>A (n.*14C>A) | dbSNP ExAC gnomAD v4 |
1 | g.229431486A= | CA1226125349 | ACTA1 | c.*13T= (n.*13T=) | |
1 | g.229431486A>T | CA1226125350 | ACTA1 | c.*13T>A (n.*13T>A) | dbSNP |
1 | g.229431487G>A | CA732579183 | ACTA1 | c.*12C>T (n.*12C>T) | dbSNP |
1 | g.229431487G= | CA1226125351 | ACTA1 | c.*12C= (n.*12C=) | |
1 | g.229431488_229431491del | CA2698259238 | ACTA1 | c.*9_*12del (n.*9_*12del) | dbSNP |
1 | g.229431488G>A | CA2650926575 | ACTA1 | c.*11C>T (n.*11C>T) | gnomAD v4 |
1 | g.229431489T>C | CA1226125353 | ACTA1 | c.*10A>G (n.*10A>G) | dbSNP gnomAD v4 |
1 | g.229431489T= | CA1226125352 | ACTA1 | c.*10A= (n.*10A=) | |
1 | g.229431490G>A | CA2650926576 | ACTA1 | c.*9C>T (n.*9C>T) | gnomAD v4 |
1 | g.229431493G>A | CA529915231 | ACTA1 | c.*6C>T (n.*6C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229431493G= | CA1226125354 | ACTA1 | c.*6C= (n.*6C=) | |
1 | g.229431494del | CA2698259239 | ACTA1 | c.*5del (n.*5del) | dbSNP |
1 | g.229431494T>C | CA2650926577 | ACTA1 | c.*5A>G (n.*5A>G) | gnomAD v4 |
1 | g.229431494T= | CA1226125355 | ACTA1 | c.*5A= (n.*5A=) | |
1 | g.229431495G>A | CA2650926578 | ACTA1 | c.*4C>T (n.*4C>T) | gnomAD v4 |
1 | g.229431495dup | CA916422659 | ACTA1 | c.*4dup (n.*4dup) | dbSNP |
1 | g.229431496T>G | CA1226125357 | ACTA1 | c.*3A>C (n.*3A>C) | dbSNP |
1 | g.229431496T= | CA1226125356 | ACTA1 | c.*3A= (n.*3A=) | |
1 | g.229431499C>A | CA345144019 | ACTA1 | c.1056G>T (p.Ter352Tyr) c.999G>T (p.Ter333Tyr) c.765G>T (p.Ter255Tyr) c.1134G>T (p.Ter378Tyr) | |
1 | g.229431499C>G | CA345144022 | ACTA1 | c.1056G>C (p.Ter352Tyr) c.999G>C (p.Ter333Tyr) c.765G>C (p.Ter255Tyr) c.1134G>C (p.Ter378Tyr) | |
1 | g.229431499C>T | CA423754783 | ACTA1 | c.1056G>A (p.Ter352=) c.999G>A (p.Ter333=) c.765G>A (p.Ter255=) c.1134G>A (p.Ter378=) | |
1 | g.229431500T>A | CA345144023 | ACTA1 | c.1055A>T (p.Ter352Leu) c.998A>T (p.Ter333Leu) c.764A>T (p.Ter255Leu) c.1133A>T (p.Ter378Leu) | |
1 | g.229431500T>C | CA345144024 | ACTA1 | c.1055A>G (p.Ter352Trp) c.998A>G (p.Ter333Trp) c.764A>G (p.Ter255Trp) c.1133A>G (p.Ter378Trp) | |
1 | g.229431500T>G | CA345144025 | ACTA1 | c.1055A>C (p.Ter352Ser) c.998A>C (p.Ter333Ser) c.764A>C (p.Ter255Ser) c.1133A>C (p.Ter378Ser) | |
1 | g.229431501A= | CA1226125358 | ACTA1 | c.1054T= (p.Ter352=) c.997T= (p.Ter333=) c.763T= (p.Ter255=) c.1132T= (p.Ter378=) | |
1 | g.229431501A>C | CA345144027 | ACTA1 | c.1054T>G (p.Ter352Glu) c.997T>G (p.Ter333Glu) c.763T>G (p.Ter255Glu) c.1132T>G (p.Ter378Glu) | |
1 | g.229431501A>G | CA345144029 | ACTA1 | c.1054T>C (p.Ter352Gln) c.997T>C (p.Ter333Gln) c.763T>C (p.Ter255Gln) c.1132T>C (p.Ter378Gln) | ClinVar dbSNP |
1 | g.229431501A>T | CA345144034 | ACTA1 | c.1054T>A (p.Ter352Lys) c.997T>A (p.Ter333Lys) c.763T>A (p.Ter255Lys) c.1132T>A (p.Ter378Lys) | |
1 | g.229431502G>A | CA423754784 | ACTA1 | c.1053C>T (p.Phe351=) c.996C>T (p.Phe332=) c.762C>T (p.Phe254=) c.1131C>T (p.Phe377=) | |
1 | g.229431502G>C | CA345144037 | ACTA1 | c.1053C>G (p.Phe351Leu) c.996C>G (p.Phe332Leu) c.762C>G (p.Phe254Leu) c.1131C>G (p.Phe377Leu) | |
1 | g.229431502G>T | CA345144040 | ACTA1 | c.1053C>A (p.Phe351Leu) c.996C>A (p.Phe332Leu) c.762C>A (p.Phe254Leu) c.1131C>A (p.Phe377Leu) | |
1 | g.229431503A= | CA1226125359 | ACTA1 | c.1052T= (p.Phe351=) c.995T= (p.Phe332=) c.761T= (p.Phe254=) c.1130T= (p.Phe377=) | |
1 | g.229431503A>C | CA345144043 | ACTA1 | c.1052T>G (p.Phe351Cys) c.995T>G (p.Phe332Cys) c.761T>G (p.Phe254Cys) c.1130T>G (p.Phe377Cys) | |
1 | g.229431503A>G | CA345144046 | ACTA1 | c.1052T>C (p.Phe351Ser) c.995T>C (p.Phe332Ser) c.761T>C (p.Phe254Ser) c.1130T>C (p.Phe377Ser) | ClinVar dbSNP |
1 | g.229431503A>T | CA345144055 | ACTA1 | c.1052T>A (p.Phe351Tyr) c.995T>A (p.Phe332Tyr) c.761T>A (p.Phe254Tyr) c.1130T>A (p.Phe377Tyr) | |
1 | g.229431504A>C | CA345144059 | ACTA1 | c.1051T>G (p.Phe351Val) c.994T>G (p.Phe332Val) c.760T>G (p.Phe254Val) c.1129T>G (p.Phe377Val) | |
1 | g.229431504A>G | CA345144062 | ACTA1 | c.1051T>C (p.Phe351Leu) c.994T>C (p.Phe332Leu) c.760T>C (p.Phe254Leu) c.1129T>C (p.Phe377Leu) | gnomAD v4 |
1 | g.229431504A>T | CA345144065 | ACTA1 | c.1051T>A (p.Phe351Ile) c.994T>A (p.Phe332Ile) c.760T>A (p.Phe254Ile) c.1129T>A (p.Phe377Ile) | |
1 | g.229431505G>A | CA423754785 | ACTA1 | c.1050C>T (p.Cys350=) c.993C>T (p.Cys331=) c.759C>T (p.Cys253=) c.1128C>T (p.Cys376=) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.229431505G>C | CA345144067 | ACTA1 | c.1050C>G (p.Cys350Trp) c.993C>G (p.Cys331Trp) c.759C>G (p.Cys253Trp) c.1128C>G (p.Cys376Trp) | |
1 | g.229431505G= | CA1226125360 | ACTA1 | c.1050C= (p.Cys350=) c.993C= (p.Cys331=) c.759C= (p.Cys253=) c.1128C= (p.Cys376=) | |
1 | g.229431505G>T | CA345144070 | ACTA1 | c.1050C>A (p.Cys350Ter) c.993C>A (p.Cys331Ter) c.759C>A (p.Cys253Ter) c.1128C>A (p.Cys376Ter) | |
1 | g.229431506C>A | CA345144073 | ACTA1 | c.1049G>T (p.Cys350Phe) c.992G>T (p.Cys331Phe) c.758G>T (p.Cys253Phe) c.1127G>T (p.Cys376Phe) | ClinVar dbSNP |