Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432189_229432272del | CA529915257 | ACTA1 | c.616+1_617-1del c.481+1_482-1del c.479+138_479+221del (n.479+138_479+221del) | gnomAD v2 gnomAD v4 |
1 | g.229432269C>A | CA345147676 | ACTA1 | c.616+1G>T (n.616+1G>T) c.481+1G>T (n.481+1G>T) c.479+138G>T (n.479+138G>T) | |
1 | g.229432269C= | CA1141228836 | ACTA1 | c.616+1G= (n.616+1G=) c.481+1G= (n.481+1G=) c.479+138G= (n.479+138G=) | |
1 | g.229432269C>G | CA38815838 | ACTA1 | c.616+1G>C (n.616+1G>C) c.481+1G>C (n.481+1G>C) c.479+138G>C (n.479+138G>C) | dbSNP |
1 | g.229432269C>T | CA38815843 | ACTA1 | c.616+1G>A (n.616+1G>A) c.481+1G>A (n.481+1G>A) c.479+138G>A (n.479+138G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432270C>A | CA345147691 | ACTA1 | c.616G>T (p.Ala206Ser) c.481G>T (p.Ala161Ser) c.479+137G>T (n.479+137G>T) | dbSNP |
1 | g.229432270C= | CA1226125719 | ACTA1 | c.616G= (p.Ala206=) c.481G= (p.Ala161=) c.479+137G= (n.479+137G=) | |
1 | g.229432270C>G | CA345147690 | ACTA1 | c.616G>C (p.Ala206Pro) c.481G>C (p.Ala161Pro) c.479+137G>C (n.479+137G>C) | |
1 | g.229432270C>T | CA16603572 | ACTA1 | c.616G>A (p.Ala206Thr) c.481G>A (p.Ala161Thr) c.479+137G>A (n.479+137G>A) | ClinVar dbSNP |
1 | g.229432271T>A | CA423755292 | ACTA1 | c.615A>T (p.Thr205=) c.480A>T (p.Thr160=) c.479+136A>T (n.479+136A>T) | gnomAD v4 |
1 | g.229432271T>C | CA423755294 | ACTA1 | c.615A>G (p.Thr205=) c.480A>G (p.Thr160=) c.479+136A>G (n.479+136A>G) | dbSNP |
1 | g.229432271T>G | CA423755293 | ACTA1 | c.615A>C (p.Thr205=) c.480A>C (p.Thr160=) c.479+136A>C (n.479+136A>C) | |
1 | g.229432271T= | CA1226125720 | ACTA1 | c.615A= (p.Thr205=) c.480A= (p.Thr160=) c.479+136A= (n.479+136A=) | |
1 | g.229432272G>A | CA345147694 | ACTA1 | c.614C>T (p.Thr205Ile) c.479C>T (p.Thr160Ile) c.479+135C>T (n.479+135C>T) | |
1 | g.229432272G>C | CA345147692 | ACTA1 | c.614C>G (p.Thr205Arg) c.479C>G (p.Thr160Arg) c.479+135C>G (n.479+135C>G) | |
1 | g.229432272G>T | CA345147693 | ACTA1 | c.614C>A (p.Thr205Lys) c.479C>A (p.Thr160Lys) c.479+135C>A (n.479+135C>A) | |
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) |