| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.149486983G>A | CA340989 | IDS | c.1122C>T (p.Gly374=) c.489C>T (p.Gly163=) n.229C>T c.852C>T (p.Gly284=) | ClinVar dbSNP COSMIC |
| X | g.149486983G>T | CA519057564 | IDS | c.1122C>A (p.Gly374=) c.489C>A (p.Gly163=) n.229C>A c.852C>A (p.Gly284=) | ClinVar dbSNP gnomAD v4 |
| X | g.149486983G= | CA2465005567 | IDS | c.1122C= (p.Gly374=) c.489C= (p.Gly163=) n.229C= c.852C= (p.Gly284=) | dbSNP |