| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.100975538C>G | CA10584009 | NPAS2,NPAS2-AS1 | c.1363C>G (p.Pro455Ala) c.160C>G (p.Pro54Ala) n.223C>G n.697C>G n.447-125G>C c.1558C>G (p.Pro520Ala) c.1444C>G (p.Pro482Ala) c.1249C>G (p.Pro417Ala) c.991C>G (p.Pro331Ala) c.1273C>G (p.Pro425Ala) n.1560C>G | ClinVar dbSNP |
| 2 | g.100975538C>A | CA347913722 | NPAS2,NPAS2-AS1 | c.1363C>A (p.Pro455Thr) c.160C>A (p.Pro54Thr) n.223C>A n.697C>A n.447-125G>T c.1558C>A (p.Pro520Thr) c.1444C>A (p.Pro482Thr) c.1249C>A (p.Pro417Thr) c.991C>A (p.Pro331Thr) c.1273C>A (p.Pro425Thr) n.1560C>A | dbSNP gnomAD v2 |
| 2 | g.100975538C= | CA1274583996 | NPAS2,NPAS2-AS1 | c.1363C= (p.Pro455=) c.160C= (p.Pro54=) n.223C= n.697C= n.447-125G= c.1558C= (p.Pro520=) c.1444C= (p.Pro482=) c.1249C= (p.Pro417=) c.991C= (p.Pro331=) c.1273C= (p.Pro425=) n.1560C= | dbSNP |