| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42538692G>A | CA399598921 | NAGLU | c.701G>A (p.Arg234His) c.303G>A c.296G>A (p.Arg99His) c.-42G>A (n.-42G>A) c.758G>A (p.Arg253His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42538692G>T | CA399598923 | NAGLU | c.701G>T (p.Arg234Leu) c.303G>T c.296G>T (p.Arg99Leu) c.-42G>T (n.-42G>T) c.758G>T (p.Arg253Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42538692G>C | CA10603774 | NAGLU | c.701G>C (p.Arg234Pro) c.303G>C c.296G>C (p.Arg99Pro) c.-42G>C (n.-42G>C) c.758G>C (p.Arg253Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42538692G= | CA2260527971 | NAGLU | c.701G= (p.Arg234=) c.303G= c.296G= (p.Arg99=) c.-42G= (n.-42G=) c.758G= (p.Arg253=) | dbSNP |