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.229432256_229432267del | CA2698260213 | ACTA1 | c.616+3_616+14del (n.616+3_616+14del) c.481+3_481+14del (n.481+3_481+14del) c.479+140_479+151del (n.479+140_479+151del) | dbSNP |
1 | g.229432259G>A | CA2650926668 | ACTA1 | c.616+11C>T (n.616+11C>T) c.481+11C>T (n.481+11C>T) c.479+148C>T (n.479+148C>T) | gnomAD v4 |
1 | g.229432260C>A | CA1226125714 | ACTA1 | c.616+10G>T (n.616+10G>T) c.481+10G>T (n.481+10G>T) c.479+147G>T (n.479+147G>T) | dbSNP gnomAD v4 |
1 | g.229432260C= | CA1226125713 | ACTA1 | c.616+10G= (n.616+10G=) c.481+10G= (n.481+10G=) c.479+147G= (n.479+147G=) | |
1 | g.229432260C>T | CA2650926669 | ACTA1 | c.616+10G>A (n.616+10G>A) c.481+10G>A (n.481+10G>A) c.479+147G>A (n.479+147G>A) | gnomAD v4 |
1 | g.229432261G>A | CA2650926670 | ACTA1 | c.616+9C>T (n.616+9C>T) c.481+9C>T (n.481+9C>T) c.479+146C>T (n.479+146C>T) | gnomAD v4 |
1 | g.229432261G= | CA1226125715 | ACTA1 | c.616+9C= (n.616+9C=) c.481+9C= (n.481+9C=) c.479+146C= (n.479+146C=) | |
1 | g.229432261G>T | CA1013145475 | ACTA1 | c.616+9C>A (n.616+9C>A) c.481+9C>A (n.481+9C>A) c.479+146C>A (n.479+146C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432263C>A | CA2607340884 | ACTA1 | c.616+7G>T (n.616+7G>T) c.481+7G>T (n.481+7G>T) c.479+144G>T (n.479+144G>T) | gnomAD v3 gnomAD v4 |
1 | g.229432263C= | CA1226125716 | ACTA1 | c.616+7G= (n.616+7G=) c.481+7G= (n.481+7G=) c.479+144G= (n.479+144G=) | |
1 | g.229432263C>G | CA529915281 | ACTA1 | c.616+7G>C (n.616+7G>C) c.481+7G>C (n.481+7G>C) c.479+144G>C (n.479+144G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432263C>T | CA1442836 | ACTA1 | c.616+7G>A (n.616+7G>A) c.481+7G>A (n.481+7G>A) c.479+144G>A (n.479+144G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432265C= | CA1226125717 | ACTA1 | c.616+5G= (n.616+5G=) c.481+5G= (n.481+5G=) c.479+142G= (n.479+142G=) | |
1 | g.229432265C>T | CA1442837 | ACTA1 | c.616+5G>A (n.616+5G>A) c.481+5G>A (n.481+5G>A) c.479+142G>A (n.479+142G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432266G>A | CA1442839 | ACTA1 | c.616+4C>T (n.616+4C>T) c.481+4C>T (n.481+4C>T) c.479+141C>T (n.479+141C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432266G>C | CA1442838 | ACTA1 | c.616+4C>G (n.616+4C>G) c.481+4C>G (n.481+4C>G) c.479+141C>G (n.479+141C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432266G= | CA1143819804 | ACTA1 | c.616+4C= (n.616+4C=) c.481+4C= (n.481+4C=) c.479+141C= (n.479+141C=) | |
1 | g.229432266G>T | CA38815831 | ACTA1 | c.616+4C>A (n.616+4C>A) c.481+4C>A (n.481+4C>A) c.479+141C>A (n.479+141C>A) | dbSNP |
1 | g.229432268A= | CA1226125718 | ACTA1 | c.616+2T= (n.616+2T=) c.481+2T= (n.481+2T=) c.479+139T= (n.479+139T=) | |
1 | g.229432268A>C | CA345147663 | ACTA1 | c.616+2T>G (n.616+2T>G) c.481+2T>G (n.481+2T>G) c.479+139T>G (n.479+139T>G) | |
1 | g.229432268A>G | CA345147669 | ACTA1 | c.616+2T>C (n.616+2T>C) c.481+2T>C (n.481+2T>C) c.479+139T>C (n.479+139T>C) | ClinVar |
1 | g.229432268A>T | CA345147672 | ACTA1 | c.616+2T>A (n.616+2T>A) c.481+2T>A (n.481+2T>A) c.479+139T>A (n.479+139T>A) | dbSNP gnomAD v3 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) |