| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236482366T>A | CA345353683 | EDARADD | c.365T>A (p.Leu122Gln) c.335T>A (p.Leu112Gln) c.299T>A (p.Leu100Gln) c.236-9371T>A (n.236-9371T>A) | dbSNP |
| 1 | g.236482366T>G | CA019395 | EDARADD | c.365T>G (p.Leu122Arg) c.335T>G (p.Leu112Arg) c.299T>G (p.Leu100Arg) c.236-9371T>G (n.236-9371T>G) | ClinVar dbSNP |