| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160042339C>G | CA118807 | KCNJ10 | c.166G>C n.95-2991G>C c.194G>C (p.Arg65Pro) c.164G>C (p.Arg55Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.160042339C>T | CA1193283 | KCNJ10 | c.166G>A n.95-2991G>A c.194G>A (p.Arg65His) c.164G>A (p.Arg55His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160042339C= | CA1141581126 | KCNJ10 | c.166G= n.95-2991G= c.194G= (p.Arg65=) c.164G= (p.Arg55=) | dbSNP |