| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543700G>T | CA8577079 | NAGLU | c.1694G>T (p.Arg565Leu) c.1032G>T (n.1032G>T) c.863G>T (p.Arg288Leu) c.695G>T (p.Arg232Leu) c.1751G>T (p.Arg584Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42543700G>C | CA115051 | NAGLU | c.1694G>C (p.Arg565Pro) c.1032G>C (n.1032G>C) c.863G>C (p.Arg288Pro) c.695G>C (p.Arg232Pro) c.1751G>C (p.Arg584Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543700G>A | CA129472 | NAGLU | c.1694G>A (p.Arg565Gln) c.1032G>A (n.1032G>A) c.863G>A (p.Arg288Gln) c.695G>A (p.Arg232Gln) c.1751G>A (p.Arg584Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |