| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70766131dup | CA354074 | AUTS2 | c.1486dup (p.Gln496ProfsTer14) c.-180dup (n.-180dup) c.112dup (p.Gln38ProfsTer14) c.1483dup (p.Gln495ProfsTer14) c.330dup c.111dup n.93dup c.742dup (p.Gln248ProfsTer14) c.1195dup (p.Gln399ProfsTer14) c.1012dup (p.Gln338ProfsTer14) c.985dup (p.Gln329ProfsTer14) | ClinVar dbSNP |
| 7 | g.70766131C= | CA3146205940 | AUTS2 | c.1486C= (p.Gln496=) c.-180C= (n.-180C=) c.112C= (p.Gln38=) c.1483C= (p.Gln495=) c.330C= c.111C= n.93C= c.742C= (p.Gln248=) c.1195C= (p.Gln399=) c.1012C= (p.Gln338=) c.985C= (p.Gln329=) | dbSNP |