| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34240681C>A | CA16041722 | SLC12A6 | c.2416G>T (p.Glu806Ter) c.2263G>T (p.Glu755Ter) c.2239G>T (p.Glu747Ter) c.2371G>T (p.Glu791Ter) c.2389G>T (p.Glu797Ter) n.364G>T c.1852G>T (p.Glu618Ter) c.2269G>T (p.Glu757Ter) n.2422G>T n.2423G>T n.3666G>T | ClinVar dbSNP |
| 15 | g.34240681C= | CA3212402658 | SLC12A6 | c.2416G= (p.Glu806=) c.2263G= (p.Glu755=) c.2239G= (p.Glu747=) c.2371G= (p.Glu791=) c.2389G= (p.Glu797=) n.364G= c.1852G= (p.Glu618=) c.2269G= (p.Glu757=) n.2422G= n.2423G= n.3666G= | dbSNP |