| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16044572G>A | CA623149 | CLCNKB | c.80G>A (p.Arg27His) c.-301G>A (n.-301G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16044572G>C | CA623150 | CLCNKB | c.80G>C (p.Arg27Pro) c.-301G>C (n.-301G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16044572G>T | CA623148 | CLCNKB | c.80G>T (p.Arg27Leu) c.-301G>T (n.-301G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |