| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.34994922A>G | CA322110 | PDHX | c.1076A>G (p.Asn359Ser) c.1256A>G (p.Asn419Ser) c.575A>G (p.Asn192Ser) c.1211A>G (p.Asn404Ser) n.161+2543A>G c.319A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.34994922A= | CA1963497565 | PDHX | c.1076A= (p.Asn359=) c.1256A= (p.Asn419=) c.575A= (p.Asn192=) c.1211A= (p.Asn404=) n.161+2543A= c.319A= | dbSNP |