| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34257787dup | CA16041726 | SLC12A6 | c.550dup (p.Gln184ProfsTer?) n.1332dup c.397dup (p.Gln133ProfsTer?) c.373dup (p.Gln125ProfsTer?) c.505dup (p.Gln169ProfsTer?) c.523dup (p.Gln175ProfsTer?) c.126+1031dup (n.126+1031dup) c.133dup (p.Gln45ProfsTer?) c.543+1031dup (n.543+1031dup) n.556dup n.1800dup | ClinVar dbSNP gnomAD v4 |
| 15 | g.34257787del | CA617179601 | SLC12A6 | c.550del (p.Gln184LysfsTer19) n.1332del c.397del (p.Gln133LysfsTer19) c.373del (p.Gln125LysfsTer19) c.505del (p.Gln169LysfsTer19) c.523del (p.Gln175LysfsTer19) c.126+1031del (n.126+1031del) c.133del (p.Gln45LysfsTer19) c.543+1031del (n.543+1031del) n.556del n.1800del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.34257786_34257787del | CA2580089326 | SLC12A6 | c.549_550del (p.Gln184AsnfsTer?) n.1331_1332del c.396_397del (p.Gln133AsnfsTer?) c.372_373del (p.Gln125AsnfsTer?) c.504_505del (p.Gln169AsnfsTer?) c.522_523del (p.Gln175AsnfsTer?) c.126+1030_126+1031del (n.126+1030_126+1031del) c.132_133del (p.Gln45AsnfsTer?) c.543+1030_543+1031del (n.543+1030_543+1031del) n.555_556del n.1799_1800del | ClinVar dbSNP |