| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73641907C>T | CA263925 | SLC17A5 | c.309G>A (p.Trp103Ter) n.75G>A c.258G>A (p.Trp86Ter) c.111G>A (p.Trp37Ter) c.78G>A (p.Trp26Ter) c.330G>A (p.Trp110Ter) | ClinVar dbSNP |
| 6 | g.73641907C= | CA1638223238 | SLC17A5 | c.309G= (p.Trp103=) n.75G= c.258G= (p.Trp86=) c.111G= (p.Trp37=) c.78G= (p.Trp26=) c.330G= (p.Trp110=) | dbSNP |