| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.45805892G>T | CA223533 | SLC35C1 | c.52G>T (p.Glu18Ter) c.91G>T (p.Glu31Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45805892G>A | CA380202193 | SLC35C1 | c.52G>A (p.Glu18Lys) c.91G>A (p.Glu31Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45805892G= | CA1968692551 | SLC35C1 | c.52G= (p.Glu18=) c.91G= (p.Glu31=) | dbSNP |