| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897194C>A | CA117811 | EDAR,RANBP2 | c.1060G>T (p.Glu354Ter) c.1156G>T (p.Glu386Ter) c.1207G>T (p.Glu403Ter) c.1111G>T (p.Glu371Ter) c.487G>T (p.Glu163Ter) c.1300G>T (p.Glu434Ter) c.1204G>T (p.Glu402Ter) c.8370+124148C>A (n.8370+124148C>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.108897194C>T | CA348048449 | EDAR,RANBP2 | c.1060G>A (p.Glu354Lys) c.1156G>A (p.Glu386Lys) c.1207G>A (p.Glu403Lys) c.1111G>A (p.Glu371Lys) c.487G>A (p.Glu163Lys) c.1300G>A (p.Glu434Lys) c.1204G>A (p.Glu402Lys) c.8370+124148C>T (n.8370+124148C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |