| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149832680G>C | CA115311 | PPARGC1B | c.607G>C (p.Ala203Pro) c.490G>C (p.Ala164Pro) c.415G>C (p.Ala139Pro) c.544G>C (p.Ala182Pro) c.-6G>C (n.-6G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149832680G= | CA1590672465 | PPARGC1B | c.607G= (p.Ala203=) c.490G= (p.Ala164=) c.415G= (p.Ala139=) c.544G= (p.Ala182=) c.-6G= (n.-6G=) | dbSNP |