| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108896970A>C | CA16617223 | EDAR,RANBP2 | c.1284T>G (p.Cys428Trp) c.1380T>G (p.Cys460Trp) c.1431T>G (p.Cys477Trp) c.1335T>G (p.Cys445Trp) c.711T>G (p.Cys237Trp) c.1524T>G (p.Cys508Trp) c.1428T>G (p.Cys476Trp) c.8370+123924A>C (n.8370+123924A>C) | ClinVar dbSNP |
| 2 | g.108896970A>T | CA10602612 | EDAR,RANBP2 | c.1284T>A (p.Cys428Ter) c.1380T>A (p.Cys460Ter) c.1431T>A (p.Cys477Ter) c.1335T>A (p.Cys445Ter) c.711T>A (p.Cys237Ter) c.1524T>A (p.Cys508Ter) c.1428T>A (p.Cys476Ter) c.8370+123924A>T (n.8370+123924A>T) | ClinVar dbSNP |
| 2 | g.108896970A= | CA1278354222 | EDAR,RANBP2 | c.1284T= (p.Cys428=) c.1380T= (p.Cys460=) c.1431T= (p.Cys477=) c.1335T= (p.Cys445=) c.711T= (p.Cys237=) c.1524T= (p.Cys508=) c.1428T= (p.Cys476=) c.8370+123924A= (n.8370+123924A=) | dbSNP |