| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.744946G>A | CA8262297 | GEMIN4 | c.3097C>T (p.Arg1033Cys) c.3064C>T (p.Arg1022Cys) c.3109C>T (p.Arg1037Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.744946G>C | CA397501950 | GEMIN4 | c.3097C>G (p.Arg1033Gly) c.3064C>G (p.Arg1022Gly) c.3109C>G (p.Arg1037Gly) | dbSNP |
| 17 | g.744946G= | CA2242474016 | GEMIN4 | c.3097C= (p.Arg1033=) c.3064C= (p.Arg1022=) c.3109C= (p.Arg1037=) | dbSNP |