| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108929342C>T | CA1825152 | EDAR,RANBP2 | c.212G>A (p.Cys71Tyr) c.263G>A (p.Cys88Tyr) c.356G>A (p.Cys119Tyr) c.8370+156296C>T (n.8370+156296C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108929342C= | CA1278368583 | EDAR,RANBP2 | c.212G= (p.Cys71=) c.263G= (p.Cys88=) c.356G= (p.Cys119=) c.8370+156296C= (n.8370+156296C=) | dbSNP |