| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897110C>T | CA274979 | EDAR,RANBP2 | c.1144G>A (p.Gly382Ser) c.1240G>A (p.Gly414Ser) c.1291G>A (p.Gly431Ser) c.1195G>A (p.Gly399Ser) c.571G>A (p.Gly191Ser) c.1384G>A (p.Gly462Ser) c.1288G>A (p.Gly430Ser) c.8370+124064C>T (n.8370+124064C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897110C= | CA1278354277 | EDAR,RANBP2 | c.1144G= (p.Gly382=) c.1240G= (p.Gly414=) c.1291G= (p.Gly431=) c.1195G= (p.Gly399=) c.571G= (p.Gly191=) c.1384G= (p.Gly462=) c.1288G= (p.Gly430=) c.8370+124064C= (n.8370+124064C=) | dbSNP |