| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34254565del | CA253466 | SLC12A6 | c.901del (p.Ile301SerfsTer15) n.1683del c.748del (p.Ile250SerfsTer15) c.724del (p.Ile242SerfsTer15) c.856del (p.Ile286SerfsTer15) c.874del (p.Ile292SerfsTer15) c.337del (p.Ile113SerfsTer15) c.754del (p.Ile252SerfsTer15) n.907del n.2151del | ClinVar dbSNP |
| 15 | g.34254565T= | CA3212187252 | SLC12A6 | c.901A= (p.Ile301=) n.1683A= c.748A= (p.Ile250=) c.724A= (p.Ile242=) c.856A= (p.Ile286=) c.874A= (p.Ile292=) c.337A= (p.Ile113=) c.754A= (p.Ile252=) n.907A= n.2151A= | dbSNP dbSNP |