| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73644494del | CA16041090 | SLC17A5 | c.204del (p.Asp69IlefsTer6) c.153del (p.Asp52IlefsTer6) c.6del (p.Asp3IlefsTer6) c.61-2570del (n.61-2570del) c.225del (p.Asp76IlefsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644494T= | CA3135552290 | SLC17A5 | c.204A= (p.Val68=) c.153A= (p.Val51=) c.6A= (p.Val2=) c.61-2570A= (n.61-2570A=) c.225A= (p.Val75=) | dbSNP |