| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1986002G>T | CA394304663 | GFER | c.367G>T (p.Gly123Cys) c.592G>T (p.Gly198Cys) n.749G>T c.*65G>T (n.*65G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1986002G>A | CA320714 | GFER | c.367G>A (p.Gly123Ser) c.592G>A (p.Gly198Ser) n.749G>A c.*65G>A (n.*65G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |