| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108929225T>G | CA253632 | EDAR,RANBP2 | c.329A>C (p.Asp110Ala) c.380A>C (p.Asp127Ala) c.473A>C (p.Asp158Ala) c.8370+156179T>G (n.8370+156179T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108929225T= | CA1278368524 | EDAR,RANBP2 | c.329A= (p.Asp110=) c.380A= (p.Asp127=) c.473A= (p.Asp158=) c.8370+156179T= (n.8370+156179T=) | dbSNP |