| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108929288C>T | CA130257 | EDAR,RANBP2 | c.266G>A (p.Arg89His) c.317G>A (p.Arg106His) c.410G>A (p.Arg137His) c.8370+156242C>T (n.8370+156242C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929288C= | CA1278368554 | EDAR,RANBP2 | c.266G= (p.Arg89=) c.317G= (p.Arg106=) c.410G= (p.Arg137=) c.8370+156242C= (n.8370+156242C=) | dbSNP |
| 2 | g.108929288C>A | CA348115726 | EDAR,RANBP2 | c.266G>T (p.Arg89Leu) c.317G>T (p.Arg106Leu) c.410G>T (p.Arg137Leu) c.8370+156242C>A (n.8370+156242C>A) | dbSNP gnomAD v4 |