| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73615410C>T | CA16041080 | SLC17A5 | c.1016G>A (p.Trp339Ter) c.965G>A (p.Trp322Ter) c.818G>A (p.Trp273Ter) c.785G>A (p.Trp262Ter) c.1037G>A (p.Trp346Ter) c.929G>A (p.Trp310Ter) c.857G>A (p.Trp286Ter) c.1013G>A (p.Trp338Ter) c.698G>A (p.Trp233Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73615410C= | CA1638231823 | SLC17A5 | c.1016G= (p.Trp339=) c.965G= (p.Trp322=) c.818G= (p.Trp273=) c.785G= (p.Trp262=) c.1037G= (p.Trp346=) c.929G= (p.Trp310=) c.857G= (p.Trp286=) c.1013G= (p.Trp338=) c.698G= (p.Trp233=) | dbSNP |