| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.100974842A>G | CA1803727 | NPAS2,NPAS2-AS1 | c.1180A>G (p.Thr394Ala) n.40A>G n.514A>G n.575+443T>C c.1375A>G (p.Thr459Ala) c.1261A>G (p.Thr421Ala) c.1066A>G (p.Thr356Ala) c.808A>G (p.Thr270Ala) c.1090A>G (p.Thr364Ala) n.1377A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.100974842A= | CA1274583662 | NPAS2,NPAS2-AS1 | c.1180A= (p.Thr394=) n.40A= n.514A= n.575+443T= c.1375A= (p.Thr459=) c.1261A= (p.Thr421=) c.1066A= (p.Thr356=) c.808A= (p.Thr270=) c.1090A= (p.Thr364=) n.1377A= | dbSNP |