| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19355452C>T | CA412394585 | PDHA1 | c.728C>T (p.Ala243Val) c.*399C>T (n.*399C>T) c.791C>T (p.Ala264Val) c.821C>T (p.Ala274Val) n.502C>T c.*39C>T (n.*39C>T) c.*162C>T (n.*162C>T) c.707C>T (p.Ala236Val) n.135C>T c.614C>T (p.Ala205Val) c.842C>T (p.Ala281Val) c.749C>T (p.Ala250Val) | ClinVar dbSNP |
| X | g.19355452C>A | CA321964 | PDHA1 | c.728C>A (p.Ala243Glu) c.*399C>A (n.*399C>A) c.791C>A (p.Ala264Glu) c.821C>A (p.Ala274Glu) n.502C>A c.*39C>A (n.*39C>A) c.*162C>A (n.*162C>A) c.707C>A (p.Ala236Glu) n.135C>A c.614C>A (p.Ala205Glu) c.842C>A (p.Ala281Glu) c.749C>A (p.Ala250Glu) | ClinVar dbSNP |