| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108908010A>G | CA1824911 | EDAR,RANBP2 | c.813T>C (p.Asp271=) c.909T>C (p.Asp303=) c.960T>C (p.Asp320=) c.864T>C (p.Asp288=) c.240T>C (p.Asp80=) c.1053T>C (p.Asp351=) c.957T>C (p.Asp319=) c.8370+134964A>G (n.8370+134964A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108908010A= | CA1278358988 | EDAR,RANBP2 | c.813T= (p.Asp271=) c.909T= (p.Asp303=) c.960T= (p.Asp320=) c.864T= (p.Asp288=) c.240T= (p.Asp80=) c.1053T= (p.Asp351=) c.957T= (p.Asp319=) c.8370+134964A= (n.8370+134964A=) | dbSNP |