| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56904402G>A | CA8070132 | SLC12A3 | c.2864G>A (p.Arg955Gln) c.2861G>A (p.Arg954Gln) c.2891G>A (p.Arg964Gln) c.2888G>A (p.Arg963Gln) n.295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56904402G= | CA2224365727 | SLC12A3 | c.2864G= (p.Arg955=) c.2861G= (p.Arg954=) c.2891G= (p.Arg964=) c.2888G= (p.Arg963=) n.295G= | dbSNP |
| 16 | g.56904402G>C | CA396002234 | SLC12A3 | c.2864G>C (p.Arg955Pro) c.2861G>C (p.Arg954Pro) c.2891G>C (p.Arg964Pro) c.2888G>C (p.Arg963Pro) n.295G>C | ClinVar dbSNP |