| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.25354358dup | CA333351 | SNHG14,UBE3A | c.2289dup (p.Ile764AspfsTer2) c.2349dup (p.Ile784AspfsTer2) c.2358dup (p.Ile787AspfsTer2) c.2172dup (p.Ile725AspfsTer2) n.5045dup c.300dup (p.Ile101AspfsTer2) c.160dup c.2193dup (p.Ile732AspfsTer2) c.2133dup (p.Ile712AspfsTer2) c.2124dup (p.Ile709AspfsTer2) c.1098dup (p.Ile367AspfsTer2) c.1038dup (p.Ile347AspfsTer2) n.18393-37238dup n.2893dup c.2202dup (p.Ile735AspfsTer2) n.2861dup | ClinVar dbSNP |
| 15 | g.25354358C= | CA3212240194 | SNHG14,UBE3A | c.2289G= (p.Leu763=) c.2349G= (p.Leu783=) c.2358G= (p.Leu786=) c.2172G= (p.Leu724=) n.5045G= c.300G= (p.Leu100=) c.160G= c.2193G= (p.Leu731=) c.2133G= (p.Leu711=) c.2124G= (p.Leu708=) c.1098G= (p.Leu366=) c.1038G= (p.Leu346=) n.18393-37238C= n.2893G= c.2202G= (p.Leu734=) n.2861G= | dbSNP dbSNP |