| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6695759C>T | CA210837 | SLC13A5 | c.1022G>A (p.Trp341Ter) c.971G>A (p.Trp324Ter) c.893G>A (p.Trp298Ter) n.131G>A n.2155G>A c.911G>A (p.Trp304Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6695759C= | CA2245487557 | SLC13A5 | c.1022G= (p.Trp341=) c.971G= (p.Trp324=) c.893G= (p.Trp298=) n.131G= n.2155G= c.911G= (p.Trp304=) | dbSNP |