| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.46041337T>A | CA279757 | SLC12A5 | c.863T>A (p.Leu288His) c.932T>A (p.Leu311His) c.509+4055T>A (n.509+4055T>A) c.612+3952T>A (n.612+3952T>A) c.*181T>A (n.*181T>A) | ClinVar dbSNP |
| 20 | g.46041337T= | CA2366492861 | SLC12A5 | c.863T= (p.Leu288=) c.932T= (p.Leu311=) c.509+4055T= (n.509+4055T=) c.612+3952T= (n.612+3952T=) c.*181T= (n.*181T=) | dbSNP |