| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88111322_88111323del | CA345952 | CEP290 | c.2248_2249del (p.Leu750ThrfsTer11) c.*157_*158del (n.*157_*158del) n.3804_3805del c.*419_*420del (n.*419_*420del) c.2227_2228del (p.Leu743ThrfsTer11) c.3109_3110del (p.Leu1037ThrfsTer11) n.2475_2476del c.3016_3017del (p.Leu1006ThrfsTer11) n.4311_4312del c.*161_*162del (n.*161_*162del) c.2254_2255del (p.Leu752ThrfsTer11) c.2003_2004del (n.2003_2004del) c.1507_1508del (p.Leu503ThrfsTer11) c.2341_2342del (p.Leu781ThrfsTer11) c.1570_1571del (p.Leu524ThrfsTer11) n.3453_3454del | ClinVar dbSNP gnomAD v4 |
| 12 | g.88111323del | CA2620109198 | CEP290 | c.2249del (p.Leu750TyrfsTer20) c.*158del (n.*158del) n.3805del c.*420del (n.*420del) c.2228del (p.Leu743TyrfsTer20) c.3110del (p.Leu1037TyrfsTer20) n.2476del c.3017del (p.Leu1006TyrfsTer20) n.4312del c.*162del (n.*162del) c.2255del (p.Leu752TyrfsTer20) c.2004del (n.2004del) c.1508del (p.Leu503TyrfsTer20) c.2342del (p.Leu781TyrfsTer20) c.1571del (p.Leu524TyrfsTer20) n.3454del | dbSNP gnomAD v4 |