| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88060840dup | CA2052906746 | CEP290 | c.6525dup (p.Leu2176IlefsTer4) c.3800dup c.6516dup (p.Leu2173IlefsTer4) n.295dup c.*4529-816dup (n.*4529-816dup) n.4876dup c.6516dup (p.Leu2173IlefsTer5) n.3469dup c.6495dup (p.Leu2166IlefsTer4) c.6358-816dup (n.6358-816dup) c.7377dup (p.Leu2460IlefsTer4) n.6743dup c.*4687dup (n.*4687dup) c.7284dup (p.Leu2429IlefsTer4) n.2821dup n.5444dup n.955dup n.12242dup c.6522dup (p.Leu2175IlefsTer4) c.3696dup (p.Leu1233IlefsTer4) c.7386dup (p.Leu2463IlefsTer4) c.7383dup (p.Leu2462IlefsTer4) c.7386dup (p.Leu2463IlefsTer5) c.7228-816dup (n.7228-816dup) c.6618dup (p.Leu2207IlefsTer4) c.5847dup (p.Leu1950IlefsTer4) n.967+3820dup c.7377dup (p.Leu2460IlefsTer5) c.7219-816dup (n.7219-816dup) c.6504dup (p.Leu2169IlefsTer4) n.7721dup n.7563-816dup | ClinVar dbSNP |
| 12 | g.88060840del | CA16043809 | CEP290 | c.6525del (p.Lys2175AsnfsTer2) c.3800del c.6516del (p.Lys2172AsnfsTer2) n.295del c.*4529-816del (n.*4529-816del) n.4876del n.3469del c.6495del (p.Lys2165AsnfsTer2) c.6358-816del (n.6358-816del) c.7377del (p.Lys2459AsnfsTer2) n.6743del c.*4687del (n.*4687del) c.7284del (p.Lys2428AsnfsTer2) n.2821del n.5444del n.955del n.12242del c.6522del (p.Lys2174AsnfsTer2) c.3696del (p.Lys1232AsnfsTer2) c.7386del (p.Lys2462AsnfsTer2) c.7383del (p.Lys2461AsnfsTer2) c.7228-816del (n.7228-816del) c.6618del (p.Lys2206AsnfsTer2) c.5847del (p.Lys1949AsnfsTer2) n.967+3820del c.7219-816del (n.7219-816del) c.6504del (p.Lys2168AsnfsTer2) n.7721del n.7563-816del | ClinVar dbSNP gnomAD v3 gnomAD v4 |