| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48288430dup | CA16609225 | SLC12A1 | c.2787dup (p.Thr931AsnfsTer10) c.2925dup (p.Thr977AsnfsTer10) n.6910dup n.6926dup c.2883dup (p.Thr963AsnfsTer10) n.3100dup n.1001+1348dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48288430C= | CA2175418092 | SLC12A1 | c.2787C= (p.Ile929=) c.2925C= (p.Ile975=) n.6910C= n.6926C= c.2883C= (p.Ile961=) n.3100C= n.1001+1348G= | dbSNP dbSNP |