| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73615443C>T | CA263933 | SLC17A5 | c.983G>A (p.Gly328Glu) c.932G>A (p.Gly311Glu) c.785G>A (p.Gly262Glu) c.752G>A (p.Gly251Glu) c.1004G>A (p.Gly335Glu) c.896G>A (p.Gly299Glu) c.824G>A (p.Gly275Glu) c.980G>A (p.Gly327Glu) c.665G>A (p.Gly222Glu) | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.73615443C= | CA1638231834 | SLC17A5 | c.983G= (p.Gly328=) c.932G= (p.Gly311=) c.785G= (p.Gly262=) c.752G= (p.Gly251=) c.1004G= (p.Gly335=) c.896G= (p.Gly299=) c.824G= (p.Gly275=) c.980G= (p.Gly327=) c.665G= (p.Gly222=) | dbSNP |