| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42538691C>T | CA115055 | NAGLU | c.700C>T (p.Arg234Cys) c.302C>T c.295C>T (p.Arg99Cys) c.-43C>T (n.-43C>T) c.757C>T (p.Arg253Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42538691C>G | CA399598919 | NAGLU | c.700C>G (p.Arg234Gly) c.302C>G c.295C>G (p.Arg99Gly) c.-43C>G (n.-43C>G) c.757C>G (p.Arg253Gly) | ClinVar dbSNP |
| 17 | g.42538691C>A | CA399598918 | NAGLU | c.700C>A (p.Arg234Ser) c.302C>A c.295C>A (p.Arg99Ser) c.-43C>A (n.-43C>A) c.757C>A (p.Arg253Ser) | dbSNP |