| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.77268853G>A | CA9006013 | GALR1 | c.1001G>A (p.Ser334Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.77268853G>T | CA402808276 | GALR1 | c.1001G>T (p.Ser334Ile) | dbSNP |
| 18 | g.77268853G>C | CA402808274 | GALR1 | c.1001G>C (p.Ser334Thr) | dbSNP |