| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.746695G>T | CA397507281 | GEMIN4 | c.1348C>A (p.Gln450Lys) c.*531C>A (n.*531C>A) c.1315C>A (p.Gln439Lys) c.1360C>A (p.Gln454Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.746695G>C | CA8262654 | GEMIN4 | c.1348C>G (p.Gln450Glu) c.*531C>G (n.*531C>G) c.1315C>G (p.Gln439Glu) c.1360C>G (p.Gln454Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.746695G= | CA2242474841 | GEMIN4 | c.1348C= (p.Gln450=) c.*531C= (n.*531C=) c.1315C= (p.Gln439=) c.1360C= (p.Gln454=) | dbSNP |