Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432189_229432272delCA529915257ACTA1c.616+1_617-1del
c.481+1_482-1del
c.479+138_479+221del (n.479+138_479+221del)
 gnomAD v2 gnomAD v4
1g.229432256_229432267delCA2698260213ACTA1c.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
1g.229432261G>ACA2650926670ACTA1c.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
1g.229432261G=CA1226125715ACTA1c.616+9C= (n.616+9C=)
c.481+9C= (n.481+9C=)
c.479+146C= (n.479+146C=)
1g.229432261G>TCA1013145475ACTA1c.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
1g.229432263C>ACA2607340884ACTA1c.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
1g.229432263C=CA1226125716ACTA1c.616+7G= (n.616+7G=)
c.481+7G= (n.481+7G=)
c.479+144G= (n.479+144G=)
1g.229432263C>GCA529915281ACTA1c.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
1g.229432263C>TCA1442836ACTA1c.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
1g.229432265C=CA1226125717ACTA1c.616+5G= (n.616+5G=)
c.481+5G= (n.481+5G=)
c.479+142G= (n.479+142G=)
1g.229432265C>TCA1442837ACTA1c.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
1g.229432266G>ACA1442839ACTA1c.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
1g.229432266G>CCA1442838ACTA1c.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
1g.229432266G=CA1143819804ACTA1c.616+4C= (n.616+4C=)
c.481+4C= (n.481+4C=)
c.479+141C= (n.479+141C=)
1g.229432266G>TCA38815831ACTA1c.616+4C>A (n.616+4C>A)
c.481+4C>A (n.481+4C>A)
c.479+141C>A (n.479+141C>A)
 dbSNP
1g.229432268A=CA1226125718ACTA1c.616+2T= (n.616+2T=)
c.481+2T= (n.481+2T=)
c.479+139T= (n.479+139T=)
1g.229432268A>CCA345147663ACTA1c.616+2T>G (n.616+2T>G)
c.481+2T>G (n.481+2T>G)
c.479+139T>G (n.479+139T>G)
1g.229432268A>GCA345147669ACTA1c.616+2T>C (n.616+2T>C)
c.481+2T>C (n.481+2T>C)
c.479+139T>C (n.479+139T>C)
1g.229432268A>TCA345147672ACTA1c.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
1g.229432269C>ACA345147676ACTA1c.616+1G>T (n.616+1G>T)
c.481+1G>T (n.481+1G>T)
c.479+138G>T (n.479+138G>T)
1g.229432269C=CA1141228836ACTA1c.616+1G= (n.616+1G=)
c.481+1G= (n.481+1G=)
c.479+138G= (n.479+138G=)
1g.229432269C>GCA38815838ACTA1c.616+1G>C (n.616+1G>C)
c.481+1G>C (n.481+1G>C)
c.479+138G>C (n.479+138G>C)
 dbSNP
1g.229432269C>TCA38815843ACTA1c.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
1g.229432270C>ACA345147691ACTA1c.616G>T (p.Ala206Ser)
c.481G>T (p.Ala161Ser)
c.479+137G>T (n.479+137G>T)
 dbSNP
1g.229432270C=CA1226125719ACTA1c.616G= (p.Ala206=)
c.481G= (p.Ala161=)
c.479+137G= (n.479+137G=)
1g.229432270C>GCA345147690ACTA1c.616G>C (p.Ala206Pro)
c.481G>C (p.Ala161Pro)
c.479+137G>C (n.479+137G>C)
1g.229432270C>TCA16603572ACTA1c.616G>A (p.Ala206Thr)
c.481G>A (p.Ala161Thr)
c.479+137G>A (n.479+137G>A)
 ClinVar dbSNP
1g.229432271T>ACA423755292ACTA1c.615A>T (p.Thr205=)
c.480A>T (p.Thr160=)
c.479+136A>T (n.479+136A>T)
 gnomAD v4
1g.229432271T>CCA423755294ACTA1c.615A>G (p.Thr205=)
c.480A>G (p.Thr160=)
c.479+136A>G (n.479+136A>G)
 dbSNP
1g.229432271T>GCA423755293ACTA1c.615A>C (p.Thr205=)
c.480A>C (p.Thr160=)
c.479+136A>C (n.479+136A>C)
1g.229432271T=CA1226125720ACTA1c.615A= (p.Thr205=)
c.480A= (p.Thr160=)
c.479+136A= (n.479+136A=)
1g.229432272G>ACA345147694ACTA1c.614C>T (p.Thr205Ile)
c.479C>T (p.Thr160Ile)
c.479+135C>T (n.479+135C>T)
1g.229432272G>CCA345147692ACTA1c.614C>G (p.Thr205Arg)
c.479C>G (p.Thr160Arg)
c.479+135C>G (n.479+135C>G)
1g.229432272G>TCA345147693ACTA1c.614C>A (p.Thr205Lys)
c.479C>A (p.Thr160Lys)
c.479+135C>A (n.479+135C>A)
1g.229432273T>ACA345147700ACTA1c.613A>T (p.Thr205Ser)
c.478A>T (p.Thr160Ser)
c.479+134A>T (n.479+134A>T)
1g.229432273T>CCA345147702ACTA1c.613A>G (p.Thr205Ala)
c.478A>G (p.Thr160Ala)
c.479+134A>G (n.479+134A>G)
1g.229432273T>GCA345147712ACTA1c.613A>C (p.Thr205Pro)
c.478A>C (p.Thr160Pro)
c.479+134A>C (n.479+134A>C)
1g.229432274G>ACA423755298ACTA1c.612C>T (p.Thr204=)
c.477C>T (p.Thr159=)
c.479+133C>T (n.479+133C>T)
 dbSNP gnomAD v4
1g.229432274G>CCA423755301ACTA1c.612C>G (p.Thr204=)
c.477C>G (p.Thr159=)
c.479+133C>G (n.479+133C>G)
1g.229432274G=CA1226125721ACTA1c.612C= (p.Thr204=)
c.477C= (p.Thr159=)
c.479+133C= (n.479+133C=)
1g.229432274G>TCA423755299ACTA1c.612C>A (p.Thr204=)
c.477C>A (p.Thr159=)
c.479+133C>A (n.479+133C>A)
1g.229432274_229432277delCA2698260221ACTA1c.609_612del (p.Thr204GlnfsTer?)
c.474_477del (p.Thr159GlnfsTer?)
c.479+130_479+133del (n.479+130_479+133del)
 dbSNP
1g.229432275G>ACA345147742ACTA1c.611C>T (p.Thr204Ile)
c.476C>T (p.Thr159Ile)
c.479+132C>T (n.479+132C>T)
 ClinVar
1g.229432275G>CCA345147726ACTA1c.611C>G (p.Thr204Ser)
c.476C>G (p.Thr159Ser)
c.479+132C>G (n.479+132C>G)
1g.229432275G>TCA345147717ACTA1c.611C>A (p.Thr204Asn)
c.476C>A (p.Thr159Asn)
c.479+132C>A (n.479+132C>A)
1g.229432276T>ACA345147748ACTA1c.610A>T (p.Thr204Ser)
c.475A>T (p.Thr159Ser)
c.479+131A>T (n.479+131A>T)
1g.229432276T>CCA345147761ACTA1c.610A>G (p.Thr204Ala)
c.475A>G (p.Thr159Ala)
c.479+131A>G (n.479+131A>G)
1g.229432276T>GCA345147764ACTA1c.610A>C (p.Thr204Pro)
c.475A>C (p.Thr159Pro)
c.479+131A>C (n.479+131A>C)
1g.229432277C>ACA423755307ACTA1c.609G>T (p.Val203=)
c.474G>T (p.Val158=)
c.479+130G>T (n.479+130G>T)
1g.229432277C>GCA423755309ACTA1c.609G>C (p.Val203=)
c.474G>C (p.Val158=)
c.479+130G>C (n.479+130G>C)

Number of alleles fetched