| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543952G>A | CA399605584 | NAGLU | c.1946G>A (p.Trp649Ter) c.1284G>A (n.1284G>A) c.1115G>A (p.Trp372Ter) c.947G>A (p.Trp316Ter) c.2003G>A (p.Trp668Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543952G>C | CA8577125 | NAGLU | c.1946G>C (p.Trp649Ser) c.1284G>C (n.1284G>C) c.1115G>C (p.Trp372Ser) c.947G>C (p.Trp316Ser) c.2003G>C (p.Trp668Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543952G>T | CA170085 | NAGLU | c.1946G>T (p.Trp649Leu) c.1284G>T (n.1284G>T) c.1115G>T (p.Trp372Leu) c.947G>T (p.Trp316Leu) c.2003G>T (p.Trp668Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |