| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42541127C>G | CA115053 | NAGLU | c.942C>G (p.Phe314Leu) c.360-1901C>G (n.360-1901C>G) c.37C>G c.111C>G (p.Phe37Leu) c.23-1901C>G (n.23-1901C>G) c.999C>G (p.Phe333Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42541127C>A | CA399600259 | NAGLU | c.942C>A (p.Phe314Leu) c.360-1901C>A (n.360-1901C>A) c.37C>A c.111C>A (p.Phe37Leu) c.23-1901C>A (n.23-1901C>A) c.999C>A (p.Phe333Leu) | dbSNP gnomAD v4 |
| 17 | g.42541127C= | CA2260529173 | NAGLU | c.942C= (p.Phe314=) c.360-1901C= (n.360-1901C=) c.37C= c.111C= (p.Phe37=) c.23-1901C= (n.23-1901C=) c.999C= (p.Phe333=) | dbSNP dbSNP |