| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897130C>T | CA253631 | EDAR,RANBP2 | c.1124G>A (p.Arg375His) c.1220G>A (p.Arg407His) c.1271G>A (p.Arg424His) c.1175G>A (p.Arg392His) c.551G>A (p.Arg184His) c.1364G>A (p.Arg455His) c.1268G>A (p.Arg423His) c.8370+124084C>T (n.8370+124084C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.108897130C= | CA1278354290 | EDAR,RANBP2 | c.1124G= (p.Arg375=) c.1220G= (p.Arg407=) c.1271G= (p.Arg424=) c.1175G= (p.Arg392=) c.551G= (p.Arg184=) c.1364G= (p.Arg455=) c.1268G= (p.Arg423=) c.8370+124084C= (n.8370+124084C=) | dbSNP |
| 2 | g.108897130C>G | CA348048171 | EDAR,RANBP2 | c.1124G>C (p.Arg375Pro) c.1220G>C (p.Arg407Pro) c.1271G>C (p.Arg424Pro) c.1175G>C (p.Arg392Pro) c.551G>C (p.Arg184Pro) c.1364G>C (p.Arg455Pro) c.1268G>C (p.Arg423Pro) c.8370+124084C>G (n.8370+124084C>G) | dbSNP gnomAD v4 |