| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432597A= | CA1148225034 | ACTA1 | c.413T= (p.Ile138=) c.278T= (p.Ile93=) | |
| 1 | g.229432597A>C | CA345149277 | ACTA1 | c.413T>G (p.Ile138Ser) c.278T>G (p.Ile93Ser) | |
| 1 | g.229432597A>G | CA345149278 | ACTA1 | c.413T>C (p.Ile138Thr) c.278T>C (p.Ile93Thr) | |
| 1 | g.229432597A>T | CA151568 | ACTA1 | c.413T>A (p.Ile138Asn) c.278T>A (p.Ile93Asn) | ClinVar dbSNP |
| 1 | g.229432598T>A | CA345149281 | ACTA1 | c.412A>T (p.Ile138Phe) c.277A>T (p.Ile93Phe) | |
| 1 | g.229432598T>C | CA345149282 | ACTA1 | c.412A>G (p.Ile138Val) c.277A>G (p.Ile93Val) | |
| 1 | g.229432598T>G | CA345149283 | ACTA1 | c.412A>C (p.Ile138Leu) c.277A>C (p.Ile93Leu) | |
| 1 | g.229432599G>A | CA423755086 | ACTA1 | c.411C>T (p.Ala137=) c.276C>T (p.Ala92=) | |
| 1 | g.229432599G>C | CA423755087 | ACTA1 | c.411C>G (p.Ala137=) c.276C>G (p.Ala92=) | |
| 1 | g.229432599G>T | CA423755088 | ACTA1 | c.411C>A (p.Ala137=) c.276C>A (p.Ala92=) | |
| 1 | g.229432600G>A | CA345149291 | ACTA1 | c.410C>T (p.Ala137Val) c.275C>T (p.Ala92Val) | |
| 1 | g.229432600G>C | CA345149292 | ACTA1 | c.410C>G (p.Ala137Gly) c.275C>G (p.Ala92Gly) | |
| 1 | g.229432600G>T | CA345149295 | ACTA1 | c.410C>A (p.Ala137Asp) c.275C>A (p.Ala92Asp) | ClinVar |
| 1 | g.229432601C>A | CA345149303 | ACTA1 | c.409G>T (p.Ala137Ser) c.274G>T (p.Ala92Ser) | |
| 1 | g.229432601C>G | CA345149300 | ACTA1 | c.409G>C (p.Ala137Pro) c.274G>C (p.Ala92Pro) | |
| 1 | g.229432601C>T | CA345149299 | ACTA1 | c.409G>A (p.Ala137Thr) c.274G>A (p.Ala92Thr) | gnomAD v4 |
| 1 | g.229432602C>A | CA423755090 | ACTA1 | c.408G>T (p.Val136=) c.273G>T (p.Val91=) | |
| 1 | g.229432602C= | CA1226125891 | ACTA1 | c.408G= (p.Val136=) c.273G= (p.Val91=) | |
| 1 | g.229432602C>G | CA423755091 | ACTA1 | c.408G>C (p.Val136=) c.273G>C (p.Val91=) | |
| 1 | g.229432602C>T | CA423755092 | ACTA1 | c.408G>A (p.Val136=) c.273G>A (p.Val91=) | dbSNP COSMIC |
| 1 | g.229432603A>C | CA345149307 | ACTA1 | c.407T>G (p.Val136Gly) c.272T>G (p.Val91Gly) | |
| 1 | g.229432603A>G | CA345149309 | ACTA1 | c.407T>C (p.Val136Ala) c.272T>C (p.Val91Ala) | ClinVar |
| 1 | g.229432603A>T | CA345149311 | ACTA1 | c.407T>A (p.Val136Glu) c.272T>A (p.Val91Glu) | |
| 1 | g.229432604C>A | CA345149314 | ACTA1 | c.406G>T (p.Val136Leu) c.271G>T (p.Val91Leu) | gnomAD v4 |
| 1 | g.229432604C>G | CA345149316 | ACTA1 | c.406G>C (p.Val136Leu) c.271G>C (p.Val91Leu) | |
| 1 | g.229432604C>T | CA345149318 | ACTA1 | c.406G>A (p.Val136Met) c.271G>A (p.Val91Met) | gnomAD v4 COSMIC |
| 1 | g.229432605G>A | CA38816275 | ACTA1 | c.405C>T (p.Tyr135=) c.270C>T (p.Tyr90=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432605G>C | CA345149323 | ACTA1 | c.405C>G (p.Tyr135Ter) c.270C>G (p.Tyr90Ter) | |
| 1 | g.229432605G= | CA1226125892 | ACTA1 | c.405C= (p.Tyr135=) c.270C= (p.Tyr90=) | |
| 1 | g.229432605G>T | CA345149321 | ACTA1 | c.405C>A (p.Tyr135Ter) c.270C>A (p.Tyr90Ter) | |
| 1 | g.229432606T>A | CA345149328 | ACTA1 | c.404A>T (p.Tyr135Phe) c.269A>T (p.Tyr90Phe) | |
| 1 | g.229432606T>C | CA345149330 | ACTA1 | c.404A>G (p.Tyr135Cys) c.269A>G (p.Tyr90Cys) | |
| 1 | g.229432606T>G | CA345149336 | ACTA1 | c.404A>C (p.Tyr135Ser) c.269A>C (p.Tyr90Ser) | |
| 1 | g.229432607A>C | CA345149341 | ACTA1 | c.403T>G (p.Tyr135Asp) c.268T>G (p.Tyr90Asp) | |
| 1 | g.229432607A>G | CA345149343 | ACTA1 | c.403T>C (p.Tyr135His) c.268T>C (p.Tyr90His) | |
| 1 | g.229432607A>T | CA345149347 | ACTA1 | c.403T>A (p.Tyr135Asn) c.268T>A (p.Tyr90Asn) | |
| 1 | g.229432608C>A | CA345149349 | ACTA1 | c.402G>T (p.Met134Ile) c.267G>T (p.Met89Ile) | ClinVar dbSNP |
| 1 | g.229432608C= | CA1226125893 | ACTA1 | c.402G= (p.Met134=) c.267G= (p.Met89=) | |
| 1 | g.229432608C>G | CA345149356 | ACTA1 | c.402G>C (p.Met134Ile) c.267G>C (p.Met89Ile) | |
| 1 | g.229432608C>T | CA345149353 | ACTA1 | c.402G>A (p.Met134Ile) c.267G>A (p.Met89Ile) | ClinVar dbSNP |
| 1 | g.229432609A= | CA1226125894 | ACTA1 | c.401T= (p.Met134=) c.266T= (p.Met89=) | |
| 1 | g.229432609A>C | CA1442887 | ACTA1 | c.401T>G (p.Met134Arg) c.266T>G (p.Met89Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432609A>G | CA345149366 | ACTA1 | c.401T>C (p.Met134Thr) c.266T>C (p.Met89Thr) | COSMIC |
| 1 | g.229432609A>T | CA345149372 | ACTA1 | c.401T>A (p.Met134Lys) c.266T>A (p.Met89Lys) | |
| 1 | g.229432610del | CA2573132023 | ACTA1 | c.400del (p.Met134CysfsTer?) c.265del (p.Met89CysfsTer?) c.400del (p.Met134CysfsTer29) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432610T>A | CA345149375 | ACTA1 | c.400A>T (p.Met134Leu) c.265A>T (p.Met89Leu) | |
| 1 | g.229432610T>C | CA345149376 | ACTA1 | c.400A>G (p.Met134Val) c.265A>G (p.Met89Val) | ClinVar dbSNP |
| 1 | g.229432610T>G | CA345149381 | ACTA1 | c.400A>C (p.Met134Leu) c.265A>C (p.Met89Leu) | |
| 1 | g.229432610T= | CA1226125895 | ACTA1 | c.400A= (p.Met134=) c.265A= (p.Met89=) | |
| 1 | g.229432611G>A | CA423755105 | ACTA1 | c.399C>T (p.Ala133=) c.264C>T (p.Ala88=) | dbSNP |