| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.30557308C>G | CA411214476 | GAL3ST1 | c.85G>C (p.Val29Leu) c.163G>C (p.Val55Leu) c.160G>C (p.Val54Leu) | dbSNP |
| 22 | g.30557308C>A | CA411214474 | GAL3ST1 | c.85G>T (p.Val29Leu) c.163G>T (p.Val55Leu) c.160G>T (p.Val54Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.30557308C>T | CA10183686 | GAL3ST1 | c.85G>A (p.Val29Met) c.163G>A (p.Val55Met) c.160G>A (p.Val54Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |