| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197442284G>T | CA117708 | CRB1 | c.3997G>T (p.Glu1333Ter) c.2878G>T (p.Glu960Ter) c.*3605G>T (n.*3605G>T) c.3661G>T (p.Glu1221Ter) c.115G>T (p.Glu39Ter) c.3925G>T (p.Glu1309Ter) c.2389G>T (p.Glu797Ter) n.3998G>T n.4206G>T c.3878+3609G>T (n.3878+3609G>T) c.3415G>T (p.Glu1139Ter) c.2440G>T (p.Glu814Ter) c.3154G>T (p.Glu1052Ter) c.4132G>T (p.Glu1378Ter) n.3950G>T n.4158G>T | ClinVar dbSNP |
| 1 | g.197442284G>A | CA1312459 | CRB1 | c.3997G>A (p.Glu1333Lys) c.2878G>A (p.Glu960Lys) c.*3605G>A (n.*3605G>A) c.3661G>A (p.Glu1221Lys) c.115G>A (p.Glu39Lys) c.3925G>A (p.Glu1309Lys) c.2389G>A (p.Glu797Lys) n.3998G>A n.4206G>A c.3878+3609G>A (n.3878+3609G>A) c.3415G>A (p.Glu1139Lys) c.2440G>A (p.Glu814Lys) c.3154G>A (p.Glu1052Lys) c.4132G>A (p.Glu1378Lys) n.3950G>A n.4158G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |