| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.49606921C>T | CA364396535 | RHAG | c.1139G>A (p.Gly380Asp) c.1017G>A (p.Arg339=) c.1138+229G>A (n.1138+229G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.49606921C>A | CA122831 | RHAG | c.1139G>T (p.Gly380Val) c.1017G>T (p.Arg339Ser) c.1138+229G>T (n.1138+229G>T) | ClinVar dbSNP |
| 6 | g.49606921C= | CA1627461169 | RHAG | c.1139G= (p.Gly380=) c.1017G= (p.Arg339=) c.1138+229G= (n.1138+229G=) | dbSNP |