| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625639C>T | CA115997 | ARSA | c.1150G>A (p.Glu384Lys) c.892G>A (p.Glu298Lys) c.18G>A c.1108-175G>A (n.1108-175G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625639C= | CA2410958593 | ARSA | c.1150G= (p.Glu384=) c.892G= (p.Glu298=) c.18G= c.1108-175G= (n.1108-175G=) | dbSNP |
| 22 | g.50625639C>G | CA412170299 | ARSA | c.1150G>C (p.Glu384Gln) c.892G>C (p.Glu298Gln) c.18G>C c.1108-175G>C (n.1108-175G>C) | ClinVar dbSNP |