| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88102860del | CA16619602 | CEP290 | c.2969del (p.Thr990LysfsTer14) c.253del c.*1140del (n.*1140del) n.1329del c.152del (p.Thr51LysfsTer14) c.2948del (p.Thr983LysfsTer14) c.3830del (p.Thr1277LysfsTer14) n.3196del c.3737del (p.Thr1246LysfsTer14) n.657del n.8695del c.*882del (n.*882del) c.2975del (p.Thr992LysfsTer14) c.149del (p.Thr50LysfsTer14) c.2228del (p.Thr743LysfsTer14) c.3062del (p.Thr1021LysfsTer14) c.2291del (p.Thr764LysfsTer14) n.4174del | ClinVar dbSNP |
| 12 | g.88102860G= | CA3192155778 | CEP290 | c.2969C= (p.Thr990=) c.253C= c.*1140C= (n.*1140C=) n.1329C= c.152C= (p.Thr51=) c.2948C= (p.Thr983=) c.3830C= (p.Thr1277=) n.3196C= c.3737C= (p.Thr1246=) n.657C= n.8695C= c.*882C= (n.*882C=) c.2975C= (p.Thr992=) c.149C= (p.Thr50=) c.2228C= (p.Thr743=) c.3062C= (p.Thr1021=) c.2291C= (p.Thr764=) n.4174C= | dbSNP |