| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.149483072G>A | CA340985 | IDS | c.1327C>T (p.Arg443Ter) c.694C>T (p.Arg232Ter) c.1057C>T (p.Arg353Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483072G>T | CA10537462 | IDS | c.1327C>A (p.Arg443=) c.694C>A (p.Arg232=) c.1057C>A (p.Arg353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483072G>C | CA414518325 | IDS | c.1327C>G (p.Arg443Gly) c.694C>G (p.Arg232Gly) c.1057C>G (p.Arg353Gly) | ClinVar dbSNP |
| X | g.149483072G= | CA2465004041 | IDS | c.1327C= (p.Arg443=) c.694C= (p.Arg232=) c.1057C= (p.Arg353=) | dbSNP |