| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160042340G>T | CA343229649 | KCNJ10 | c.165C>A n.95-2992C>A c.193C>A (p.Arg65Ser) c.163C>A (p.Arg55Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160042340G>A | CA129068 | KCNJ10 | c.165C>T n.95-2992C>T c.193C>T (p.Arg65Cys) c.163C>T (p.Arg55Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.160042340G= | CA1144229025 | KCNJ10 | c.165C= n.95-2992C= c.193C= (p.Arg65=) c.163C= (p.Arg55=) | dbSNP |