| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19355385T>C | CA10603797 | PDHA1 | c.661T>C (p.Trp221Arg) c.*332T>C (n.*332T>C) c.724T>C (p.Trp242Arg) c.754T>C (p.Trp252Arg) n.435T>C c.455T>C (p.Val152Ala) c.*95T>C (n.*95T>C) c.640T>C (p.Trp214Arg) n.475T>C n.68T>C c.547T>C (p.Trp183Arg) c.775T>C (p.Trp259Arg) c.682T>C (p.Trp228Arg) | ClinVar dbSNP |
| X | g.19355385T>G | CA412394391 | PDHA1 | c.661T>G (p.Trp221Gly) c.*332T>G (n.*332T>G) c.724T>G (p.Trp242Gly) c.754T>G (p.Trp252Gly) n.435T>G c.455T>G (p.Val152Gly) c.*95T>G (n.*95T>G) c.640T>G (p.Trp214Gly) n.475T>G n.68T>G c.547T>G (p.Trp183Gly) c.775T>G (p.Trp259Gly) c.682T>G (p.Trp228Gly) | ClinVar dbSNP |
| X | g.19355385T= | CA2418223598 | PDHA1 | c.661T= (p.Trp221=) c.*332T= (n.*332T=) c.724T= (p.Trp242=) c.754T= (p.Trp252=) n.435T= c.455T= (p.Val152=) c.*95T= (n.*95T=) c.640T= (p.Trp214=) n.475T= n.68T= c.547T= (p.Trp183=) c.775T= (p.Trp259=) c.682T= (p.Trp228=) | dbSNP |