| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56904401C>A | CA495613549 | SLC12A3 | c.2863C>A (p.Arg955=) c.2860C>A (p.Arg954=) c.2890C>A (p.Arg964=) c.2887C>A (p.Arg963=) n.294C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56904401C>T | CA8070131 | SLC12A3 | c.2863C>T (p.Arg955Trp) c.2860C>T (p.Arg954Trp) c.2890C>T (p.Arg964Trp) c.2887C>T (p.Arg963Trp) n.294C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |