| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87984426G>A | CA145817 | GALC | c.550C>T (p.Arg184Cys) c.481C>T (p.Arg161Cys) c.472C>T (p.Arg158Cys) n.540C>T c.382C>T (p.Arg128Cys) c.*299C>T (n.*299C>T) n.429C>T n.251C>T c.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87984426G>C | CA390751493 | GALC | c.550C>G (p.Arg184Gly) c.481C>G (p.Arg161Gly) c.472C>G (p.Arg158Gly) n.540C>G c.382C>G (p.Arg128Gly) c.*299C>G (n.*299C>G) n.429C>G n.251C>G c.540C>G | dbSNP |
| 14 | g.87984426G= | CA2153385614 | GALC | c.550C= (p.Arg184=) c.481C= (p.Arg161=) c.472C= (p.Arg158=) n.540C= c.382C= (p.Arg128=) c.*299C= (n.*299C=) n.429C= n.251C= c.540C= | dbSNP |