| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87965585G>C | CA259869 | GALC | c.953C>G (p.Pro318Arg) c.884C>G (p.Pro295Arg) c.875C>G (p.Pro292Arg) n.943C>G c.785C>G (p.Pro262Arg) c.320C>G (p.Pro107Arg) c.*351C>G (n.*351C>G) n.39C>G c.943C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87965585G>A | CA390747571 | GALC | c.953C>T (p.Pro318Leu) c.884C>T (p.Pro295Leu) c.875C>T (p.Pro292Leu) n.943C>T c.785C>T (p.Pro262Leu) c.320C>T (p.Pro107Leu) c.*351C>T (n.*351C>T) n.39C>T c.943C>T | ClinVar dbSNP |