| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.124341916C>G | CA387212449 | NCOR2 | c.5095G>C (p.Ala1699Pro) c.3790G>C (p.Ala1264Pro) c.3739G>C (p.Ala1247Pro) c.5065G>C (p.Ala1689Pro) c.140G>C | dbSNP |
| 12 | g.124341916C>T | CA6868078 | NCOR2 | c.5095G>A (p.Ala1699Thr) c.3790G>A (p.Ala1264Thr) c.3739G>A (p.Ala1247Thr) c.5065G>A (p.Ala1689Thr) c.140G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |