| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19353169C>T | CA323959 | PDHA1 | c.527C>T (p.Ala176Val) c.506C>T (p.Ala169Val) c.590C>T (p.Ala197Val) c.620C>T (p.Ala207Val) c.418+1762C>T (n.418+1762C>T) c.419-1322C>T (n.419-1322C>T) n.341C>T c.641C>T (p.Ala214Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19353169C= | CA2418222801 | PDHA1 | c.527C= (p.Ala176=) c.506C= (p.Ala169=) c.590C= (p.Ala197=) c.620C= (p.Ala207=) c.418+1762C= (n.418+1762C=) c.419-1322C= (n.419-1322C=) n.341C= c.641C= (p.Ala214=) | dbSNP |