| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.78714883C>T | CA7291716 | NRXN3 | c.1788C>T (p.Thr596=) c.1800C>T (p.Thr600=) c.1031C>T c.1071C>T (p.Thr357=) c.669C>T (p.Thr223=) c.1782C>T (p.Thr594=) n.1132C>T n.1031C>T n.2787C>T c.1824C>T (p.Thr608=) c.1812C>T (p.Thr604=) c.732C>T (p.Thr244=) n.2829C>T n.2805C>T n.2793C>T c.1764C>T (p.Thr588=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.78714883C>G | CA7291717 | NRXN3 | c.1788C>G (p.Thr596=) c.1800C>G (p.Thr600=) c.1031C>G c.1071C>G (p.Thr357=) c.669C>G (p.Thr223=) c.1782C>G (p.Thr594=) n.1132C>G n.1031C>G n.2787C>G c.1824C>G (p.Thr608=) c.1812C>G (p.Thr604=) c.732C>G (p.Thr244=) n.2829C>G n.2805C>G n.2793C>G c.1764C>G (p.Thr588=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.78714883C= | CA2148986614 | NRXN3 | c.1788C= (p.Thr596=) c.1800C= (p.Thr600=) c.1031C= c.1071C= (p.Thr357=) c.669C= (p.Thr223=) c.1782C= (p.Thr594=) n.1132C= n.1031C= n.2787C= c.1824C= (p.Thr608=) c.1812C= (p.Thr604=) c.732C= (p.Thr244=) n.2829C= n.2805C= n.2793C= c.1764C= (p.Thr588=) | dbSNP |