| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21321881G>T | CA201070 | RPGRIP1 | c.1639G>T (p.Ala547Ser) c.565G>T (p.Ala189Ser) n.97G>T c.58G>T (p.Ala20Ser) c.173G>T c.64G>T (p.Ala22Ser) c.1558G>T (p.Ala520Ser) c.13G>T (p.Ala5Ser) c.1606G>T (p.Ala536Ser) c.67G>T (p.Ala23Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21321881G= | CA1630856005 | RPGRIP1 | c.1639G= (p.Ala547=) c.565G= (p.Ala189=) n.97G= c.58G= (p.Ala20=) c.173G= c.64G= (p.Ala22=) c.1558G= (p.Ala520=) c.13G= (p.Ala5=) c.1606G= (p.Ala536=) c.67G= (p.Ala23=) | dbSNP |