| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.4685324G>C | CA129183 | NDUFA9 | c.962G>C (p.Arg321Pro) c.239G>C (p.Arg80Pro) n.589+3024G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.4685324G>A | CA6398328 | NDUFA9 | c.962G>A (p.Arg321Gln) c.239G>A (p.Arg80Gln) n.589+3024G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.4685324G>T | CA383427143 | NDUFA9 | c.962G>T (p.Arg321Leu) c.239G>T (p.Arg80Leu) n.589+3024G>T | dbSNP gnomAD v2 gnomAD v4 |