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 |