| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165761928G>T | CA119089 | GALNT3 | c.815C>A (p.Thr272Lys) c.203C>A (p.Thr68Lys) n.98C>A n.1156C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165761928G>A | CA1941119 | GALNT3 | c.815C>T (p.Thr272Met) c.203C>T (p.Thr68Met) n.98C>T n.1156C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |