| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6704000G>A | CA213347 | SLC13A5 | c.425C>T (p.Thr142Met) c.374C>T (p.Thr125Met) c.296C>T (p.Thr99Met) c.*175C>T (n.*175C>T) c.314C>T (p.Thr105Met) n.1558C>T n.455C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6704000G= | CA2245460314 | SLC13A5 | c.425C= (p.Thr142=) c.374C= (p.Thr125=) c.296C= (p.Thr99=) c.*175C= (n.*175C=) c.314C= (p.Thr105=) n.1558C= n.455C= | dbSNP |