| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.34966740C>G | CA220466391 | PDHX | c.562C>G (p.Gln188Glu) c.742C>G (p.Gln248Glu) c.343-17830C>G (n.343-17830C>G) c.697C>G (p.Gln233Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.34966740C>T | CA115356 | PDHX | c.562C>T (p.Gln188Ter) c.742C>T (p.Gln248Ter) c.343-17830C>T (n.343-17830C>T) c.697C>T (p.Gln233Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.34966740C= | CA1963501807 | PDHX | c.562C= (p.Gln188=) c.742C= (p.Gln248=) c.343-17830C= (n.343-17830C=) c.697C= (p.Gln233=) | dbSNP |