| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.746307G>C | CA8262562 | GEMIN4 | c.1736C>G (p.Ala579Gly) c.1703C>G (p.Ala568Gly) c.1748C>G (p.Ala583Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.746307G>A | CA397506466 | GEMIN4 | c.1736C>T (p.Ala579Val) c.1703C>T (p.Ala568Val) c.1748C>T (p.Ala583Val) | dbSNP |
| 17 | g.746307G>T | CA397506467 | GEMIN4 | c.1736C>A (p.Ala579Asp) c.1703C>A (p.Ala568Asp) c.1748C>A (p.Ala583Asp) | dbSNP |