| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73621873C>T | CA16041081 | SLC17A5 | c.909G>A (p.Trp303Ter) c.858G>A (p.Trp286Ter) c.711G>A (p.Trp237Ter) c.678G>A (p.Trp226Ter) c.930G>A (p.Trp310Ter) c.822G>A (p.Trp274Ter) c.820-6426G>A (n.820-6426G>A) c.906G>A (p.Trp302Ter) c.591G>A (p.Trp197Ter) | ClinVar dbSNP |
| 6 | g.73621873C= | CA1638234787 | SLC17A5 | c.909G= (p.Trp303=) c.858G= (p.Trp286=) c.711G= (p.Trp237=) c.678G= (p.Trp226=) c.930G= (p.Trp310=) c.822G= (p.Trp274=) c.820-6426G= (n.820-6426G=) c.906G= (p.Trp302=) c.591G= (p.Trp197=) | dbSNP |