| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42544215C>A | CA145927 | NAGLU | c.2209C>A (p.Arg737Ser) c.1378C>A (p.Arg460Ser) c.1210C>A (p.Arg404Ser) c.2266C>A (p.Arg756Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42544215C>G | CA145929 | NAGLU | c.2209C>G (p.Arg737Gly) c.1378C>G (p.Arg460Gly) c.1210C>G (p.Arg404Gly) c.2266C>G (p.Arg756Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42544215C>T | CA8577160 | NAGLU | c.2209C>T (p.Arg737Cys) c.1378C>T (p.Arg460Cys) c.1210C>T (p.Arg404Cys) c.2266C>T (p.Arg756Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |