| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90776485C>T | CA16044246 | ADGRV1 | c.12436C>T (p.Arg4146Ter) c.1390C>T (p.Arg464Ter) c.265+100276C>T (n.265+100276C>T) n.2855C>T n.1013C>T n.12449C>T c.12433C>T (p.Arg4145Ter) c.12355C>T (p.Arg4119Ter) c.9739C>T (p.Arg3247Ter) c.12457C>T (p.Arg4153Ter) c.12454C>T (p.Arg4152Ter) c.12376C>T (p.Arg4126Ter) c.12361C>T (p.Arg4121Ter) c.5575C>T (p.Arg1859Ter) c.5554C>T (p.Arg1852Ter) n.12452C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90776485C>G | CA122803513 | ADGRV1 | c.12436C>G (p.Arg4146Gly) c.1390C>G (p.Arg464Gly) c.265+100276C>G (n.265+100276C>G) n.2855C>G n.1013C>G n.12449C>G c.12433C>G (p.Arg4145Gly) c.12355C>G (p.Arg4119Gly) c.9739C>G (p.Arg3247Gly) c.12457C>G (p.Arg4153Gly) c.12454C>G (p.Arg4152Gly) c.12376C>G (p.Arg4126Gly) c.12361C>G (p.Arg4121Gly) c.5575C>G (p.Arg1859Gly) c.5554C>G (p.Arg1852Gly) n.12452C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |