| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.34992363C>T | CA320447 | PDHX | c.1051C>T (p.Gln351Ter) c.1231C>T (p.Gln411Ter) c.550C>T (p.Gln184Ter) c.1186C>T (p.Gln396Ter) n.145C>T c.294C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.34992363C= | CA1963495450 | PDHX | c.1051C= (p.Gln351=) c.1231C= (p.Gln411=) c.550C= (p.Gln184=) c.1186C= (p.Gln396=) n.145C= c.294C= | dbSNP |