| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.745992C>T | CA8262497 | GEMIN4 | c.2051G>A (p.Arg684Gln) c.2018G>A (p.Arg673Gln) c.2063G>A (p.Arg688Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.745992C>A | CA397505802 | GEMIN4 | c.2051G>T (p.Arg684Leu) c.2018G>T (p.Arg673Leu) c.2063G>T (p.Arg688Leu) | dbSNP gnomAD v4 |
| 17 | g.745992C= | CA2242474516 | GEMIN4 | c.2051G= (p.Arg684=) c.2018G= (p.Arg673=) c.2063G= (p.Arg688=) | dbSNP |