| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87986582T>G | CA390752765 | GALC | c.349A>C (p.Met117Leu) c.280A>C (p.Met94Leu) c.271A>C (p.Met91Leu) n.339A>C c.181A>C (p.Met61Leu) c.*98A>C (n.*98A>C) n.228A>C n.50A>C c.409A>C (n.409A>C) c.339A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87986582T>A | CA390752762 | GALC | c.349A>T (p.Met117Leu) c.280A>T (p.Met94Leu) c.271A>T (p.Met91Leu) n.339A>T c.181A>T (p.Met61Leu) c.*98A>T (n.*98A>T) n.228A>T n.50A>T c.409A>T (n.409A>T) c.339A>T | ClinVar dbSNP |
| 14 | g.87986582T>C | CA220410 | GALC | c.349A>G (p.Met117Val) c.280A>G (p.Met94Val) c.271A>G (p.Met91Val) n.339A>G c.181A>G (p.Met61Val) c.*98A>G (n.*98A>G) n.228A>G n.50A>G c.409A>G (n.409A>G) c.339A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |