| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108907863G>A | CA1824885 | EDAR,RANBP2 | c.960C>T (p.Ala320=) c.1056C>T (p.Ala352=) c.1107C>T (p.Ala369=) c.1011C>T (p.Ala337=) c.387C>T (p.Ala129=) c.1200C>T (p.Ala400=) c.1104C>T (p.Ala368=) c.8370+134817G>A (n.8370+134817G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108907863G= | CA1278358935 | EDAR,RANBP2 | c.960C= (p.Ala320=) c.1056C= (p.Ala352=) c.1107C= (p.Ala369=) c.1011C= (p.Ala337=) c.387C= (p.Ala129=) c.1200C= (p.Ala400=) c.1104C= (p.Ala368=) c.8370+134817G= (n.8370+134817G=) | dbSNP |