| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34243984dup | CA345671 | SLC12A6 | c.2032dup (p.Tyr678LeufsTer?) n.2814dup c.1879dup (p.Tyr627LeufsTer?) c.1855dup (p.Tyr619LeufsTer?) c.1987dup (p.Tyr663LeufsTer?) c.2005dup (p.Tyr669LeufsTer?) n.145dup c.1468dup (p.Tyr490LeufsTer?) c.1885dup (p.Tyr629LeufsTer?) c.2032dup (p.Tyr678LeufsTer6) n.2038dup n.2039dup n.3282dup | ClinVar dbSNP |
| 15 | g.34243984A= | CA3212197232 | SLC12A6 | c.2032T= (p.Tyr678=) n.2814T= c.1879T= (p.Tyr627=) c.1855T= (p.Tyr619=) c.1987T= (p.Tyr663=) c.2005T= (p.Tyr669=) n.145T= c.1468T= (p.Tyr490=) c.1885T= (p.Tyr629=) n.2038T= n.2039T= n.3282T= | dbSNP |