| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19351300T>C | CA302973 | PDHA1 | c.332T>C (p.Leu111Pro) c.311T>C (p.Leu104Pro) c.395T>C (p.Leu132Pro) c.425T>C (p.Leu142Pro) n.413T>C c.446T>C (p.Leu149Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.19351300T= | CA2418222101 | PDHA1 | c.332T= (p.Leu111=) c.311T= (p.Leu104=) c.395T= (p.Leu132=) c.425T= (p.Leu142=) n.413T= c.446T= (p.Leu149=) | dbSNP |