| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197435246del | CA203797 | CRB1 | c.3383del (p.Ile1128ThrfsTer13) c.2264del (p.Ile755ThrfsTer13) c.1526del (p.Ile509ThrfsTer13) c.3047del (p.Ile1016ThrfsTer13) c.3311del (p.Ile1104ThrfsTer13) c.2129-354del (n.2129-354del) n.3384del n.3592del c.2801del (p.Ile934ThrfsTer13) c.1826del (p.Ile609ThrfsTer13) c.2540del (p.Ile847ThrfsTer13) c.3518del (p.Ile1173ThrfsTer13) n.3336del n.3544del | ClinVar dbSNP |
| 1 | g.197435246T= | CA3071752522 | CRB1 | c.3383T= (p.Ile1128=) c.2264T= (p.Ile755=) c.1526T= (p.Ile509=) c.3047T= (p.Ile1016=) c.3311T= (p.Ile1104=) c.2129-354T= (n.2129-354T=) n.3384T= n.3592T= c.2801T= (p.Ile934=) c.1826T= (p.Ile609=) c.2540T= (p.Ile847=) c.3518T= (p.Ile1173=) n.3336T= n.3544T= | dbSNP |