| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432273T>A | CA345147700 | ACTA1 | c.613A>T (p.Thr205Ser) c.478A>T (p.Thr160Ser) c.479+134A>T (n.479+134A>T) | |
| 1 | g.229432273T>C | CA345147702 | ACTA1 | c.613A>G (p.Thr205Ala) c.478A>G (p.Thr160Ala) c.479+134A>G (n.479+134A>G) | |
| 1 | g.229432273T>G | CA345147712 | ACTA1 | c.613A>C (p.Thr205Pro) c.478A>C (p.Thr160Pro) c.479+134A>C (n.479+134A>C) | |
| 1 | g.229432274G>A | CA423755298 | ACTA1 | c.612C>T (p.Thr204=) c.477C>T (p.Thr159=) c.479+133C>T (n.479+133C>T) | dbSNP gnomAD v4 |
| 1 | g.229432274G>C | CA423755301 | ACTA1 | c.612C>G (p.Thr204=) c.477C>G (p.Thr159=) c.479+133C>G (n.479+133C>G) | |
| 1 | g.229432274G= | CA1226125721 | ACTA1 | c.612C= (p.Thr204=) c.477C= (p.Thr159=) c.479+133C= (n.479+133C=) | |
| 1 | g.229432274G>T | CA423755299 | ACTA1 | c.612C>A (p.Thr204=) c.477C>A (p.Thr159=) c.479+133C>A (n.479+133C>A) | |
| 1 | g.229432274_229432277del | CA2698260221 | ACTA1 | c.609_612del (p.Thr204GlnfsTer?) c.474_477del (p.Thr159GlnfsTer?) c.479+130_479+133del (n.479+130_479+133del) | dbSNP |
| 1 | g.229432275G>A | CA345147742 | ACTA1 | c.611C>T (p.Thr204Ile) c.476C>T (p.Thr159Ile) c.479+132C>T (n.479+132C>T) | ClinVar |
| 1 | g.229432275G>C | CA345147726 | ACTA1 | c.611C>G (p.Thr204Ser) c.476C>G (p.Thr159Ser) c.479+132C>G (n.479+132C>G) | |
| 1 | g.229432275G>T | CA345147717 | ACTA1 | c.611C>A (p.Thr204Asn) c.476C>A (p.Thr159Asn) c.479+132C>A (n.479+132C>A) | |
| 1 | g.229432276T>A | CA345147748 | ACTA1 | c.610A>T (p.Thr204Ser) c.475A>T (p.Thr159Ser) c.479+131A>T (n.479+131A>T) | |
| 1 | g.229432276T>C | CA345147761 | ACTA1 | c.610A>G (p.Thr204Ala) c.475A>G (p.Thr159Ala) c.479+131A>G (n.479+131A>G) | |
| 1 | g.229432276T>G | CA345147764 | ACTA1 | c.610A>C (p.Thr204Pro) c.475A>C (p.Thr159Pro) c.479+131A>C (n.479+131A>C) | |
| 1 | g.229432277C>A | CA423755307 | ACTA1 | c.609G>T (p.Val203=) c.474G>T (p.Val158=) c.479+130G>T (n.479+130G>T) | |
| 1 | g.229432277C>G | CA423755309 | ACTA1 | c.609G>C (p.Val203=) c.474G>C (p.Val158=) c.479+130G>C (n.479+130G>C) | |
| 1 | g.229432277C>T | CA423755311 | ACTA1 | c.609G>A (p.Val203=) c.474G>A (p.Val158=) c.479+130G>A (n.479+130G>A) | |
| 1 | g.229432278A= | CA1226125722 | ACTA1 | c.608T= (p.Val203=) c.473T= (p.Val158=) c.479+129T= (n.479+129T=) | |
| 1 | g.229432278A>C | CA345147768 | ACTA1 | c.608T>G (p.Val203Gly) c.473T>G (p.Val158Gly) c.479+129T>G (n.479+129T>G) | |
| 1 | g.229432278A>G | CA1442840 | ACTA1 | c.608T>C (p.Val203Ala) c.473T>C (p.Val158Ala) c.479+129T>C (n.479+129T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432278A>T | CA345147779 | ACTA1 | c.608T>A (p.Val203Glu) c.473T>A (p.Val158Glu) c.479+129T>A (n.479+129T>A) | |
| 1 | g.229432279C>A | CA345147783 | ACTA1 | c.607G>T (p.Val203Leu) c.472G>T (p.Val158Leu) c.479+128G>T (n.479+128G>T) | |
| 1 | g.229432279C>G | CA345147793 | ACTA1 | c.607G>C (p.Val203Leu) c.472G>C (p.Val158Leu) c.479+128G>C (n.479+128G>C) | |
| 1 | g.229432279C>T | CA345147791 | ACTA1 | c.607G>A (p.Val203Met) c.472G>A (p.Val158Met) c.479+128G>A (n.479+128G>A) | gnomAD v4 |
| 1 | g.229432280G>A | CA423755320 | ACTA1 | c.606C>T (p.Phe202=) c.471C>T (p.Phe157=) c.479+127C>T (n.479+127C>T) | |
| 1 | g.229432280G>C | CA345147797 | ACTA1 | c.606C>G (p.Phe202Leu) c.471C>G (p.Phe157Leu) c.479+127C>G (n.479+127C>G) | |
| 1 | g.229432280G= | CA1226125723 | ACTA1 | c.606C= (p.Phe202=) c.471C= (p.Phe157=) c.479+127C= (n.479+127C=) | |
| 1 | g.229432280G>T | CA345147799 | ACTA1 | c.606C>A (p.Phe202Leu) c.471C>A (p.Phe157Leu) c.479+127C>A (n.479+127C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432280_229432289del | CA2698260228 | ACTA1 | c.597_606del (p.Tyr200Ter) c.462_471del (p.Tyr155Ter) c.479+118_479+127del (n.479+118_479+127del) | dbSNP |
| 1 | g.229432281A>C | CA345147808 | ACTA1 | c.605T>G (p.Phe202Cys) c.470T>G (p.Phe157Cys) c.479+126T>G (n.479+126T>G) | |
| 1 | g.229432281A>G | CA345147811 | ACTA1 | c.605T>C (p.Phe202Ser) c.470T>C (p.Phe157Ser) c.479+126T>C (n.479+126T>C) | |
| 1 | g.229432281A>T | CA345147812 | ACTA1 | c.605T>A (p.Phe202Tyr) c.470T>A (p.Phe157Tyr) c.479+126T>A (n.479+126T>A) | |
| 1 | g.229432282A>C | CA345147813 | ACTA1 | c.604T>G (p.Phe202Val) c.469T>G (p.Phe157Val) c.479+125T>G (n.479+125T>G) | |
| 1 | g.229432282A>G | CA345147817 | ACTA1 | c.604T>C (p.Phe202Leu) c.469T>C (p.Phe157Leu) c.479+125T>C (n.479+125T>C) | |
| 1 | g.229432282A>T | CA345147823 | ACTA1 | c.604T>A (p.Phe202Ile) c.469T>A (p.Phe157Ile) c.479+125T>A (n.479+125T>A) | |
| 1 | g.229432283G>A | CA423755330 | ACTA1 | c.603C>T (p.Ser201=) c.468C>T (p.Ser156=) c.479+124C>T (n.479+124C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432283G>C | CA423755331 | ACTA1 | c.603C>G (p.Ser201=) c.468C>G (p.Ser156=) c.479+124C>G (n.479+124C>G) | |
| 1 | g.229432283G= | CA1226125724 | ACTA1 | c.603C= (p.Ser201=) c.468C= (p.Ser156=) c.479+124C= (n.479+124C=) | |
| 1 | g.229432283G>T | CA423755332 | ACTA1 | c.603C>A (p.Ser201=) c.468C>A (p.Ser156=) c.479+124C>A (n.479+124C>A) | |
| 1 | g.229432284G>A | CA345147829 | ACTA1 | c.602C>T (p.Ser201Phe) c.467C>T (p.Ser156Phe) c.479+123C>T (n.479+123C>T) | |
| 1 | g.229432284G>C | CA345147830 | ACTA1 | c.602C>G (p.Ser201Cys) c.467C>G (p.Ser156Cys) c.479+123C>G (n.479+123C>G) | |
| 1 | g.229432284G>T | CA345147833 | ACTA1 | c.602C>A (p.Ser201Tyr) c.467C>A (p.Ser156Tyr) c.479+123C>A (n.479+123C>A) | |
| 1 | g.229432285A>C | CA345147849 | ACTA1 | c.601T>G (p.Ser201Ala) c.466T>G (p.Ser156Ala) c.479+122T>G (n.479+122T>G) | |
| 1 | g.229432285A>G | CA345147853 | ACTA1 | c.601T>C (p.Ser201Pro) c.466T>C (p.Ser156Pro) c.479+122T>C (n.479+122T>C) | |
| 1 | g.229432285A>T | CA345147846 | ACTA1 | c.601T>A (p.Ser201Thr) c.466T>A (p.Ser156Thr) c.479+122T>A (n.479+122T>A) | |
| 1 | g.229432286G>A | CA423755337 | ACTA1 | c.600C>T (p.Tyr200=) c.465C>T (p.Tyr155=) c.479+121C>T (n.479+121C>T) | |
| 1 | g.229432286G>C | CA345147857 | ACTA1 | c.600C>G (p.Tyr200Ter) c.465C>G (p.Tyr155Ter) c.479+121C>G (n.479+121C>G) | |
| 1 | g.229432286G>T | CA345147863 | ACTA1 | c.600C>A (p.Tyr200Ter) c.465C>A (p.Tyr155Ter) c.479+121C>A (n.479+121C>A) | |
| 1 | g.229432287T>A | CA345147864 | ACTA1 | c.599A>T (p.Tyr200Phe) c.464A>T (p.Tyr155Phe) c.479+120A>T (n.479+120A>T) | |
| 1 | g.229432287T>C | CA345147865 | ACTA1 | c.599A>G (p.Tyr200Cys) c.464A>G (p.Tyr155Cys) c.479+120A>G (n.479+120A>G) | ClinVar dbSNP |