| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19353146C>T | CA220607 | PDHA1 | c.504C>T (p.Tyr168=) c.483C>T (p.Tyr161=) c.567C>T (p.Tyr189=) c.597C>T (p.Tyr199=) c.418+1739C>T (n.418+1739C>T) c.419-1345C>T (n.419-1345C>T) n.318C>T c.618C>T (p.Tyr206=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19353146C= | CA2418222795 | PDHA1 | c.504C= (p.Tyr168=) c.483C= (p.Tyr161=) c.567C= (p.Tyr189=) c.597C= (p.Tyr199=) c.418+1739C= (n.418+1739C=) c.419-1345C= (n.419-1345C=) n.318C= c.618C= (p.Tyr206=) | dbSNP |