| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197435170G>A | CA117711 | CRB1 | c.3307G>A (p.Gly1103Arg) c.2188G>A (p.Gly730Arg) c.1450G>A (p.Gly484Arg) c.2971G>A (p.Gly991Arg) c.3235G>A (p.Gly1079Arg) c.2129-430G>A (n.2129-430G>A) n.3308G>A n.3516G>A c.2725G>A (p.Gly909Arg) c.1750G>A (p.Gly584Arg) c.2464G>A (p.Gly822Arg) c.3442G>A (p.Gly1148Arg) n.3260G>A n.3468G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197435170G= | CA1140762964 | CRB1 | c.3307G= (p.Gly1103=) c.2188G= (p.Gly730=) c.1450G= (p.Gly484=) c.2971G= (p.Gly991=) c.3235G= (p.Gly1079=) c.2129-430G= (n.2129-430G=) n.3308G= n.3516G= c.2725G= (p.Gly909=) c.1750G= (p.Gly584=) c.2464G= (p.Gly822=) c.3442G= (p.Gly1148=) n.3260G= n.3468G= | dbSNP |