| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108907953G>A | CA1824900 | EDAR,RANBP2 | c.870C>T (p.Pro290=) c.966C>T (p.Pro322=) c.1017C>T (p.Pro339=) c.921C>T (p.Pro307=) c.297C>T (p.Pro99=) c.1110C>T (p.Pro370=) c.1014C>T (p.Pro338=) c.8370+134907G>A (n.8370+134907G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108907953G= | CA1278358967 | EDAR,RANBP2 | c.870C= (p.Pro290=) c.966C= (p.Pro322=) c.1017C= (p.Pro339=) c.921C= (p.Pro307=) c.297C= (p.Pro99=) c.1110C= (p.Pro370=) c.1014C= (p.Pro338=) c.8370+134907G= (n.8370+134907G=) | dbSNP |