| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48234926del | CA16609223 | SLC12A1 | c.1137del (p.Phe380SerfsTer?) c.1275del (p.Phe426SerfsTer?) c.1137del (p.Phe380SerfsTer28) n.5260del c.164del c.576del (p.Phe193SerfsTer?) n.5276del c.1233del (p.Phe412SerfsTer?) n.1449del | ClinVar dbSNP |
| 15 | g.48234926C= | CA3212402699 | SLC12A1 | c.1137C= (p.Gly379=) c.1275C= (p.Gly425=) n.5260C= c.164C= c.576C= (p.Gly192=) n.5276C= c.1233C= (p.Gly411=) n.1449C= | dbSNP dbSNP |