| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88055674del | CA6711412 | CEP290 | c.6878del (p.Asn2293IlefsTer11) c.3930-1254del c.6869del (p.Asn2290IlefsTer11) n.648del c.*4875del (n.*4875del) n.5229del c.6746del (p.Asn2249IlefsTer11) n.396del n.3822del c.6848del (p.Asn2283IlefsTer11) c.6704del (p.Asn2235IlefsTer11) c.7730del (p.Asn2577IlefsTer11) n.7096del c.*5040del (n.*5040del) c.7637del (p.Asn2546IlefsTer11) n.3174del n.5797del n.1308del n.12595del c.6875del (p.Asn2292IlefsTer11) c.4049del (p.Asn1350IlefsTer11) c.7739del (p.Asn2580IlefsTer11) c.7736del (p.Asn2579IlefsTer11) c.7616del (p.Asn2539IlefsTer11) c.7574del (p.Asn2525IlefsTer11) c.6971del (p.Asn2324IlefsTer11) c.6200del (p.Asn2067IlefsTer11) n.853+402del c.7607del (p.Asn2536IlefsTer11) c.7565del (p.Asn2522IlefsTer11) c.6857del (p.Asn2286IlefsTer11) n.8074del n.7909del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.88055674dup | CA345953 | CEP290 | c.6878dup (p.Asn2293LysfsTer6) c.3930-1254dup c.6869dup (p.Asn2290LysfsTer6) n.648dup c.*4875dup (n.*4875dup) n.5229dup c.6746dup (p.Asn2249LysfsTer6) n.396dup n.3822dup c.6848dup (p.Asn2283LysfsTer6) c.6704dup (p.Asn2235LysfsTer6) c.7730dup (p.Asn2577LysfsTer6) n.7096dup c.*5040dup (n.*5040dup) c.7637dup (p.Asn2546LysfsTer6) n.3174dup n.5797dup n.1308dup n.12595dup c.6875dup (p.Asn2292LysfsTer6) c.4049dup (p.Asn1350LysfsTer6) c.7739dup (p.Asn2580LysfsTer6) c.7736dup (p.Asn2579LysfsTer6) c.7616dup (p.Asn2539LysfsTer6) c.7574dup (p.Asn2525LysfsTer6) c.6971dup (p.Asn2324LysfsTer6) c.6200dup (p.Asn2067LysfsTer6) n.853+402dup c.7607dup (p.Asn2536LysfsTer6) c.7565dup (p.Asn2522LysfsTer6) c.6857dup (p.Asn2286LysfsTer6) n.8074dup n.7909dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |