| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.232008852A>T | CA1454188 | DISC1,TSNAX-DISC1 | c.2110A>T (p.Ser704Cys) c.*1971A>T (n.*1971A>T) n.375A>T c.2049A>T (p.Arg683Ser) c.1744A>T (p.Ser582Cys) c.*651A>T (n.*651A>T) c.2206A>T (p.Ser736Cys) c.*83A>T (n.*83A>T) n.2776A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.232008852A= | CA1139833483 | DISC1,TSNAX-DISC1 | c.2110A= (p.Ser704=) c.*1971A= (n.*1971A=) n.375A= c.2049A= (p.Arg683=) c.1744A= (p.Ser582=) c.*651A= (n.*651A=) c.2206A= (p.Ser736=) c.*83A= (n.*83A=) n.2776A= | dbSNP |