| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48285118_48285119del | CA16609226 | SLC12A1 | c.2498_2499del (p.Arg833IlefsTer15) c.2636_2637del (p.Arg879IlefsTer15) n.6621_6622del c.1937_1938del (p.Arg646IlefsTer?) n.6637_6638del c.2594_2595del (p.Arg865IlefsTer15) n.2810_2811del n.1001+4664_1001+4665del | ClinVar dbSNP |
| 15 | g.48285116_48285119del | CA2628319443 | SLC12A1 | c.2496_2499del (p.Glu832AspfsTer2) c.2634_2637del (p.Glu878AspfsTer2) n.6619_6622del c.1935_1938del (p.Glu645AspfsTer2) n.6635_6638del c.2592_2595del (p.Glu864AspfsTer2) n.2808_2811del n.1001+4662_1001+4665del | dbSNP gnomAD v4 |