| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19351368C>T | CA321249 | PDHA1 | c.400C>T (p.Arg134Trp) c.379C>T (p.Arg127Trp) c.463C>T (p.Arg155Trp) c.493C>T (p.Arg165Trp) n.481C>T c.514C>T (p.Arg172Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.19351368C= | CA2418222119 | PDHA1 | c.400C= (p.Arg134=) c.379C= (p.Arg127=) c.463C= (p.Arg155=) c.493C= (p.Arg165=) n.481C= c.514C= (p.Arg172=) | dbSNP |