| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19355360C>G | CA121217 | PDHA1 | c.636C>G (p.Phe212Leu) c.*307C>G (n.*307C>G) c.699C>G (p.Phe233Leu) c.729C>G (p.Phe243Leu) n.410C>G c.430C>G (p.Arg144Gly) c.*70C>G (n.*70C>G) c.615C>G (p.Phe205Leu) n.450C>G n.43C>G c.522C>G (p.Phe174Leu) c.750C>G (p.Phe250Leu) c.657C>G (p.Phe219Leu) | ClinVar dbSNP |
| X | g.19355360C>T | CA10363075 | PDHA1 | c.636C>T (p.Phe212=) c.*307C>T (n.*307C>T) c.699C>T (p.Phe233=) c.729C>T (p.Phe243=) n.410C>T c.430C>T (p.Arg144Ter) c.*70C>T (n.*70C>T) c.615C>T (p.Phe205=) n.450C>T n.43C>T c.522C>T (p.Phe174=) c.750C>T (p.Phe250=) c.657C>T (p.Phe219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |