| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19358970dup | CA10603427 | PDHA1 | c.975dup (p.Leu326AlafsTer21) c.*646dup (n.*646dup) c.1038dup (p.Leu347AlafsTer21) c.1068dup (p.Leu357AlafsTer21) n.749dup c.*286dup (n.*286dup) c.*409dup (n.*409dup) c.954dup (p.Leu319AlafsTer21) c.111dup (p.Leu38AlafsTer21) n.393dup n.382dup c.861dup (p.Leu288AlafsTer21) c.1089dup (p.Leu364AlafsTer21) c.996dup (p.Leu333AlafsTer21) | ClinVar dbSNP |
| X | g.19358970G= | CA3065116251 | PDHA1 | c.975G= (p.Met325=) c.*646G= (n.*646G=) c.1038G= (p.Met346=) c.1068G= (p.Met356=) n.749G= c.*286G= (n.*286G=) c.*409G= (n.*409G=) c.954G= (p.Met318=) c.111G= (p.Met37=) n.393G= n.382G= c.861G= (p.Met287=) c.1089G= (p.Met363=) c.996G= (p.Met332=) | dbSNP |