| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.25355999dup | CA333332 | SNHG14,UBE3A | c.1957dup (p.Met653AsnfsTer15) c.2017dup (p.Met673AsnfsTer15) c.2026dup (p.Met676AsnfsTer15) c.1840dup (p.Met614AsnfsTer15) n.4713dup c.75+692dup (n.75+692dup) n.506dup c.1899+692dup (n.1899+692dup) c.766dup (p.Met256AsnfsTer15) c.706dup (p.Met236AsnfsTer15) n.18393-35597dup n.2561dup n.2529dup | ClinVar dbSNP |
| 15 | g.25355999T= | CA2165201894 | SNHG14,UBE3A | c.1957A= (p.Met653=) c.2017A= (p.Met673=) c.2026A= (p.Met676=) c.1840A= (p.Met614=) n.4713A= c.75+692A= (n.75+692A=) n.506A= c.1899+692A= (n.1899+692A=) c.766A= (p.Met256=) c.706A= (p.Met236=) n.18393-35597T= n.2561A= n.2529A= | dbSNP dbSNP |