| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19357664A>C | CA121220 | PDHA1 | c.865A>C (p.Met289Leu) c.*536A>C (n.*536A>C) c.928A>C (p.Met310Leu) c.958A>C (p.Met320Leu) n.639A>C c.*176A>C (n.*176A>C) c.*299A>C (n.*299A>C) c.844A>C (p.Met282Leu) c.1A>C (p.Met1Leu) n.283A>C n.272A>C c.751A>C (p.Met251Leu) c.979A>C (p.Met327Leu) c.886A>C (p.Met296Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.19357664A>T | CA412395158 | PDHA1 | c.865A>T (p.Met289Leu) c.*536A>T (n.*536A>T) c.928A>T (p.Met310Leu) c.958A>T (p.Met320Leu) n.639A>T c.*176A>T (n.*176A>T) c.*299A>T (n.*299A>T) c.844A>T (p.Met282Leu) c.1A>T (p.Met1Leu) n.283A>T n.272A>T c.751A>T (p.Met251Leu) c.979A>T (p.Met327Leu) c.886A>T (p.Met296Leu) | ClinVar dbSNP |
| X | g.19357664A= | CA2418224609 | PDHA1 | c.865A= (p.Met289=) c.*536A= (n.*536A=) c.928A= (p.Met310=) c.958A= (p.Met320=) n.639A= c.*176A= (n.*176A=) c.*299A= (n.*299A=) c.844A= (p.Met282=) c.1A= (p.Met1=) n.283A= n.272A= c.751A= (p.Met251=) c.979A= (p.Met327=) c.886A= (p.Met296=) | dbSNP |