| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236482455G>A | CA019415 | EDARADD | c.454G>A (p.Glu152Lys) c.424G>A (p.Glu142Lys) c.388G>A (p.Glu130Lys) c.236-9282G>A (n.236-9282G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236482455G= | CA1140886978 | EDARADD | c.454G= (p.Glu152=) c.424G= (p.Glu142=) c.388G= (p.Glu130=) c.236-9282G= (n.236-9282G=) | dbSNP |