| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88824853G>T | CA397097707 | GALNS | c.1156C>A (p.Arg386Ser) n.4565C>A n.432C>A c.837C>A (n.837C>A) c.1275C>A (n.1275C>A) c.1174C>A (p.Arg392Ser) c.601C>A (p.Arg201Ser) | ClinVar dbSNP |
| 16 | g.88824853G>C | CA397097706 | GALNS | c.1156C>G (p.Arg386Gly) n.4565C>G n.432C>G c.837C>G (n.837C>G) c.1275C>G (n.1275C>G) c.1174C>G (p.Arg392Gly) c.601C>G (p.Arg201Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88824853G>A | CA221040 | GALNS | c.1156C>T (p.Arg386Cys) n.4565C>T n.432C>T c.837C>T (n.837C>T) c.1275C>T (n.1275C>T) c.1174C>T (p.Arg392Cys) c.601C>T (p.Arg201Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |