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 |
12 | g.124341916C= | CA2069281561 | NCOR2 | c.5095G= (p.Ala1699=) c.3790G= (p.Ala1264=) c.3739G= (p.Ala1247=) c.5065G= (p.Ala1689=) c.140G= | dbSNP |