| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48251660_48251661del | CA713390932 | SLC12A1 | c.1832_1833del (p.Phe611TrpfsTer24) c.1970_1971del (p.Phe657TrpfsTer24) n.5955_5956del c.1271_1272del (p.Phe424TrpfsTer24) n.5971_5972del c.1928_1929del (p.Phe643TrpfsTer24) n.2144_2145del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48251661del | CA16609227 | SLC12A1 | c.1833del (p.Phe611LeufsTer?) c.1971del (p.Phe657LeufsTer?) n.5956del c.1272del (p.Phe424LeufsTer?) n.5972del c.1929del (p.Phe643LeufsTer?) n.2145del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |