Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19357681_19357682insTCA121222PDHA1c.861_862insT (p.Arg288SerfsTer9)
c.975_976insT (p.Arg326SerfsTer9)
c.882_883insT (p.Arg295SerfsTer9)
c.768_769insT (p.Arg257SerfsTer9)
c.996_997insT (p.Arg333SerfsTer9)
c.903_904insT (p.Arg302SerfsTer9)
c.18_19insT (p.Arg7SerfsTer9)
n.300_301insT
n.289_290insT
ClinVar dbSNP
Xg.19357678_19357681dupCA16043242PDHA1c.858_861dup (p.Arg288LeufsTer10)
c.972_975dup (p.Arg326LeufsTer10)
c.879_882dup (p.Arg295LeufsTer10)
c.765_768dup (p.Arg257LeufsTer10)
c.993_996dup (p.Arg333LeufsTer10)
c.900_903dup (p.Arg302LeufsTer10)
c.15_18dup (p.Arg7LeufsTer10)
n.297_300dup
n.286_289dup
ClinVar dbSNP

Number of alleles fetched