Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108897025T>C | CA16617224 | EDAR,RANBP2 | c.1229A>G (p.Glu410Gly) c.1325A>G (p.Glu442Gly) c.1376A>G (p.Glu459Gly) c.1280A>G (p.Glu427Gly) c.656A>G (p.Glu219Gly) c.1469A>G (p.Glu490Gly) c.1373A>G (p.Glu458Gly) c.8370+123979T>C (n.8370+123979T>C) | ClinVar dbSNP |
2 | g.108897025T= | CA1278354240 | EDAR,RANBP2 | c.1229A= (p.Glu410=) c.1325A= (p.Glu442=) c.1376A= (p.Glu459=) c.1280A= (p.Glu427=) c.656A= (p.Glu219=) c.1469A= (p.Glu490=) c.1373A= (p.Glu458=) c.8370+123979T= (n.8370+123979T=) | dbSNP |