| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543955G>T | CA399605598 | NAGLU | c.1949G>T (p.Gly650Val) c.1287G>T (n.1287G>T) c.1118G>T (p.Gly373Val) c.950G>T (p.Gly317Val) c.2006G>T (p.Gly669Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543955G>A | CA170087 | NAGLU | c.1949G>A (p.Gly650Glu) c.1287G>A (n.1287G>A) c.1118G>A (p.Gly373Glu) c.950G>A (p.Gly317Glu) c.2006G>A (p.Gly669Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |