| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88093911dup | CA150904 | CEP290 | c.3175dup (p.Ile1059AsnfsTer11) c.459dup c.*1346dup (n.*1346dup) n.1535dup c.286+2984dup (n.286+2984dup) c.3154dup (p.Ile1052AsnfsTer11) c.4036dup (p.Ile1346AsnfsTer11) n.3402dup c.3943dup (p.Ile1315AsnfsTer11) n.863dup n.8901dup c.*1088dup (n.*1088dup) c.3181dup (p.Ile1061AsnfsTer11) c.355dup (p.Ile119AsnfsTer11) c.2434dup (p.Ile812AsnfsTer11) c.3268dup (p.Ile1090AsnfsTer11) c.2497dup (p.Ile833AsnfsTer11) n.4380dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.88093911del | CA144393 | CEP290 | c.3175del (p.Ile1059Ter) c.459del c.*1346del (n.*1346del) n.1535del c.286+2984del (n.286+2984del) c.3154del (p.Ile1052Ter) c.4036del (p.Ile1346Ter) n.3402del c.3943del (p.Ile1315Ter) n.863del n.8901del c.*1088del (n.*1088del) c.3181del (p.Ile1061Ter) c.355del (p.Ile119Ter) c.2434del (p.Ile812Ter) c.3268del (p.Ile1090Ter) c.2497del (p.Ile833Ter) n.4380del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |