| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70176304G>A | CA8738817 | KCNJ2 | c.1265G>A (p.Arg422Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70176304G>T | CA329636 | KCNJ2 | c.1265G>T (p.Arg422Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70176304G>C | CA8738816 | KCNJ2 | c.1265G>C (p.Arg422Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |