| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197434846G>A | CA1312256 | CRB1 | c.2983G>A (p.Glu995Lys) c.1864G>A (p.Glu622Lys) c.1126G>A (p.Glu376Lys) c.2647G>A (p.Glu883Lys) c.2911G>A (p.Glu971Lys) c.2129-754G>A (n.2129-754G>A) n.2984G>A n.3192G>A c.2401G>A (p.Glu801Lys) c.1426G>A (p.Glu476Lys) c.2140G>A (p.Glu714Lys) c.3118G>A (p.Glu1040Lys) n.2936G>A n.3144G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.197434846G>T | CA228028 | CRB1 | c.2983G>T (p.Glu995Ter) c.1864G>T (p.Glu622Ter) c.1126G>T (p.Glu376Ter) c.2647G>T (p.Glu883Ter) c.2911G>T (p.Glu971Ter) c.2129-754G>T (n.2129-754G>T) n.2984G>T n.3192G>T c.2401G>T (p.Glu801Ter) c.1426G>T (p.Glu476Ter) c.2140G>T (p.Glu714Ter) c.3118G>T (p.Glu1040Ter) n.2936G>T n.3144G>T | ClinVar dbSNP |
| 1 | g.197434846G>C | CA344044299 | CRB1 | c.2983G>C (p.Glu995Gln) c.1864G>C (p.Glu622Gln) c.1126G>C (p.Glu376Gln) c.2647G>C (p.Glu883Gln) c.2911G>C (p.Glu971Gln) c.2129-754G>C (n.2129-754G>C) n.2984G>C n.3192G>C c.2401G>C (p.Glu801Gln) c.1426G>C (p.Glu476Gln) c.2140G>C (p.Glu714Gln) c.3118G>C (p.Glu1040Gln) n.2936G>C n.3144G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197434846G= | CA1140762958 | CRB1 | c.2983G= (p.Glu995=) c.1864G= (p.Glu622=) c.1126G= (p.Glu376=) c.2647G= (p.Glu883=) c.2911G= (p.Glu971=) c.2129-754G= (n.2129-754G=) n.2984G= n.3192G= c.2401G= (p.Glu801=) c.1426G= (p.Glu476=) c.2140G= (p.Glu714=) c.3118G= (p.Glu1040=) n.2936G= n.3144G= | dbSNP |