| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431788T>A | CA345145644 | ACTA1 | c.923A>T (p.Tyr308Phe) c.788A>T (p.Tyr263Phe) c.554A>T (p.Tyr185Phe) | |
| 1 | g.229431788T>C | CA10575963 | ACTA1 | c.923A>G (p.Tyr308Cys) c.788A>G (p.Tyr263Cys) c.554A>G (p.Tyr185Cys) | ClinVar dbSNP |
| 1 | g.229431788T>G | CA345145647 | ACTA1 | c.923A>C (p.Tyr308Ser) c.788A>C (p.Tyr263Ser) c.554A>C (p.Tyr185Ser) | |
| 1 | g.229431788T= | CA1226125492 | ACTA1 | c.923A= (p.Tyr308=) c.788A= (p.Tyr263=) c.554A= (p.Tyr185=) | |
| 1 | g.229431789A>C | CA345145649 | ACTA1 | c.922T>G (p.Tyr308Asp) c.787T>G (p.Tyr263Asp) c.553T>G (p.Tyr185Asp) | |
| 1 | g.229431789A>G | CA345145651 | ACTA1 | c.922T>C (p.Tyr308His) c.787T>C (p.Tyr263His) c.553T>C (p.Tyr185His) | ClinVar dbSNP |
| 1 | g.229431789A>T | CA345145652 | ACTA1 | c.922T>A (p.Tyr308Asn) c.787T>A (p.Tyr263Asn) c.553T>A (p.Tyr185Asn) | |
| 1 | g.229431790C>A | CA345145657 | ACTA1 | c.921G>T (p.Met307Ile) c.786G>T (p.Met262Ile) c.552G>T (p.Met184Ile) | |
| 1 | g.229431790C>G | CA345145658 | ACTA1 | c.921G>C (p.Met307Ile) c.786G>C (p.Met262Ile) c.552G>C (p.Met184Ile) | |
| 1 | g.229431790C>T | CA345145655 | ACTA1 | c.921G>A (p.Met307Ile) c.786G>A (p.Met262Ile) c.552G>A (p.Met184Ile) | |
| 1 | g.229431791A>C | CA345145661 | ACTA1 | c.920T>G (p.Met307Arg) c.785T>G (p.Met262Arg) c.551T>G (p.Met184Arg) | ClinVar |
| 1 | g.229431791A>G | CA345145663 | ACTA1 | c.920T>C (p.Met307Thr) c.785T>C (p.Met262Thr) c.551T>C (p.Met184Thr) | |
| 1 | g.229431791A>T | CA345145664 | ACTA1 | c.920T>A (p.Met307Lys) c.785T>A (p.Met262Lys) c.551T>A (p.Met184Lys) | |
| 1 | g.229431792T>A | CA345145667 | ACTA1 | c.919A>T (p.Met307Leu) c.784A>T (p.Met262Leu) c.550A>T (p.Met184Leu) | |
| 1 | g.229431792T>C | CA345145669 | ACTA1 | c.919A>G (p.Met307Val) c.784A>G (p.Met262Val) c.550A>G (p.Met184Val) | |
| 1 | g.229431792T>G | CA345145670 | ACTA1 | c.919A>C (p.Met307Leu) c.784A>C (p.Met262Leu) c.550A>C (p.Met184Leu) | |
| 1 | g.229431793C>A | CA423754999 | ACTA1 | c.918G>T (p.Thr306=) c.783G>T (p.Thr261=) c.549G>T (p.Thr183=) | gnomAD v4 |
| 1 | g.229431793C= | CA1226125493 | ACTA1 | c.918G= (p.Thr306=) c.783G= (p.Thr261=) c.549G= (p.Thr183=) | |
| 1 | g.229431793C>G | CA423755001 | ACTA1 | c.918G>C (p.Thr306=) c.783G>C (p.Thr261=) c.549G>C (p.Thr183=) | dbSNP gnomAD v4 |
| 1 | g.229431793C>T | CA423755003 | ACTA1 | c.918G>A (p.Thr306=) c.783G>A (p.Thr261=) c.549G>A (p.Thr183=) | |
| 1 | g.229431794G>A | CA345145671 | ACTA1 | c.917C>T (p.Thr306Met) c.782C>T (p.Thr261Met) c.548C>T (p.Thr183Met) | |
| 1 | g.229431794G>C | CA1442753 | ACTA1 | c.917C>G (p.Thr306Arg) c.782C>G (p.Thr261Arg) c.548C>G (p.Thr183Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431794G= | CA1147422018 | ACTA1 | c.917C= (p.Thr306=) c.782C= (p.Thr261=) c.548C= (p.Thr183=) | |
| 1 | g.229431794G>T | CA345145673 | ACTA1 | c.917C>A (p.Thr306Lys) c.782C>A (p.Thr261Lys) c.548C>A (p.Thr183Lys) | |
| 1 | g.229431795T>A | CA345145674 | ACTA1 | c.916A>T (p.Thr306Ser) c.781A>T (p.Thr261Ser) c.547A>T (p.Thr183Ser) | |
| 1 | g.229431795T>C | CA345145675 | ACTA1 | c.916A>G (p.Thr306Ala) c.781A>G (p.Thr261Ala) c.547A>G (p.Thr183Ala) | |
| 1 | g.229431795T>G | CA345145677 | ACTA1 | c.916A>C (p.Thr306Pro) c.781A>C (p.Thr261Pro) c.547A>C (p.Thr183Pro) | |
| 1 | g.229431796G>A | CA423755010 | ACTA1 | c.915C>T (p.Thr305=) c.780C>T (p.Thr260=) c.546C>T (p.Thr182=) | dbSNP |
| 1 | g.229431796G>C | CA423755011 | ACTA1 | c.915C>G (p.Thr305=) c.780C>G (p.Thr260=) c.546C>G (p.Thr182=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431796G= | CA1226125494 | ACTA1 | c.915C= (p.Thr305=) c.780C= (p.Thr260=) c.546C= (p.Thr182=) | |
| 1 | g.229431796G>T | CA423755012 | ACTA1 | c.915C>A (p.Thr305=) c.780C>A (p.Thr260=) c.546C>A (p.Thr182=) | |
| 1 | g.229431797G>A | CA345145681 | ACTA1 | c.914C>T (p.Thr305Ile) c.779C>T (p.Thr260Ile) c.545C>T (p.Thr182Ile) | dbSNP gnomAD v3 |
| 1 | g.229431797G>C | CA345145683 | ACTA1 | c.914C>G (p.Thr305Ser) c.779C>G (p.Thr260Ser) c.545C>G (p.Thr182Ser) | |
| 1 | g.229431797G>T | CA345145680 | ACTA1 | c.914C>A (p.Thr305Asn) c.779C>A (p.Thr260Asn) c.545C>A (p.Thr182Asn) | |
| 1 | g.229431798T>A | CA345145686 | ACTA1 | c.913A>T (p.Thr305Ser) c.778A>T (p.Thr260Ser) c.544A>T (p.Thr182Ser) | |
| 1 | g.229431798T>C | CA345145687 | ACTA1 | c.913A>G (p.Thr305Ala) c.778A>G (p.Thr260Ala) c.544A>G (p.Thr182Ala) | gnomAD v4 |
| 1 | g.229431798T>G | CA345145688 | ACTA1 | c.913A>C (p.Thr305Pro) c.778A>C (p.Thr260Pro) c.544A>C (p.Thr182Pro) | |
| 1 | g.229431799G>A | CA423755022 | ACTA1 | c.912C>T (p.Gly304=) c.777C>T (p.Gly259=) c.543C>T (p.Gly181=) | dbSNP |
| 1 | g.229431799G>C | CA423755020 | ACTA1 | c.912C>G (p.Gly304=) c.777C>G (p.Gly259=) c.543C>G (p.Gly181=) | |
| 1 | g.229431799G= | CA1226125495 | ACTA1 | c.912C= (p.Gly304=) c.777C= (p.Gly259=) c.543C= (p.Gly181=) | |
| 1 | g.229431799G>T | CA423755023 | ACTA1 | c.912C>A (p.Gly304=) c.777C>A (p.Gly259=) c.543C>A (p.Gly181=) | |
| 1 | g.229431800C>A | CA345145692 | ACTA1 | c.911G>T (p.Gly304Val) c.776G>T (p.Gly259Val) c.542G>T (p.Gly181Val) | |
| 1 | g.229431800C>G | CA345145690 | ACTA1 | c.911G>C (p.Gly304Ala) c.776G>C (p.Gly259Ala) c.542G>C (p.Gly181Ala) | |
| 1 | g.229431800C>T | CA345145689 | ACTA1 | c.911G>A (p.Gly304Asp) c.776G>A (p.Gly259Asp) c.542G>A (p.Gly181Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.229431805dup | CA1442754 | ACTA1 | c.911dup (p.Thr305HisfsTer9) c.776dup (p.Thr260HisfsTer9) c.542dup (p.Thr182HisfsTer9) | dbSNP ExAC gnomAD v4 |
| 1 | g.229431805del | CA423755024 | ACTA1 | c.911del (p.Gly304AlafsTer24) c.776del (p.Gly259AlafsTer24) c.542del (p.Gly181AlafsTer24) | gnomAD v4 COSMIC |
| 1 | g.229431801C>A | CA345145695 | ACTA1 | c.910G>T (p.Gly304Cys) c.775G>T (p.Gly259Cys) c.541G>T (p.Gly181Cys) | |
| 1 | g.229431801C>G | CA345145696 | ACTA1 | c.910G>C (p.Gly304Arg) c.775G>C (p.Gly259Arg) c.541G>C (p.Gly181Arg) | |
| 1 | g.229431801C>T | CA345145698 | ACTA1 | c.910G>A (p.Gly304Ser) c.775G>A (p.Gly259Ser) c.541G>A (p.Gly181Ser) | |
| 1 | g.229431802C>A | CA423755030 | ACTA1 | c.909G>T (p.Gly303=) c.774G>T (p.Gly258=) c.540G>T (p.Gly180=) |