| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34336431dup | CA16043686 | SLC12A6 | c.250dup (p.His84ProfsTer27) n.1032dup c.73dup (p.His25ProfsTer27) c.250dup (p.His84ProfsTer12) c.223dup (p.His75ProfsTer27) n.256dup n.1500dup | ClinVar dbSNP |
| 15 | g.34336431G= | CA3212244138 | SLC12A6 | c.250C= (p.His84=) n.1032C= c.73C= (p.His25=) c.223C= (p.His75=) n.256C= n.1500C= | dbSNP dbSNP |