| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.745258C>T | CA8262358 | GEMIN4 | c.2785G>A (p.Asp929Asn) c.2752G>A (p.Asp918Asn) c.2797G>A (p.Asp933Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.745258C>G | CA397502840 | GEMIN4 | c.2785G>C (p.Asp929His) c.2752G>C (p.Asp918His) c.2797G>C (p.Asp933His) | dbSNP |
| 17 | g.745258C>A | CA397502838 | GEMIN4 | c.2785G>T (p.Asp929Tyr) c.2752G>T (p.Asp918Tyr) c.2797G>T (p.Asp933Tyr) | dbSNP |