| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19355699A>C | CA121216 | PDHA1 | c.794A>C (p.Asp265Ala) c.*465A>C (n.*465A>C) c.857A>C (p.Asp286Ala) c.887A>C (p.Asp296Ala) n.568A>C c.*105A>C (n.*105A>C) c.*228A>C (n.*228A>C) c.773A>C (p.Asp258Ala) c.-71A>C (n.-71A>C) n.201A>C c.680A>C (p.Asp227Ala) c.908A>C (p.Asp303Ala) c.815A>C (p.Asp272Ala) | ClinVar dbSNP |
| X | g.19355699A= | CA2418223744 | PDHA1 | c.794A= (p.Asp265=) c.*465A= (n.*465A=) c.857A= (p.Asp286=) c.887A= (p.Asp296=) n.568A= c.*105A= (n.*105A=) c.*228A= (n.*228A=) c.773A= (p.Asp258=) c.-71A= (n.-71A=) n.201A= c.680A= (p.Asp227=) c.908A= (p.Asp303=) c.815A= (p.Asp272=) | dbSNP |