Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.149482996C>A | CA121099 | IDS | c.1403G>T (p.Arg468Leu) c.770G>T (p.Arg257Leu) c.1133G>T (p.Arg378Leu) | ClinVar dbSNP |
X | g.149482996C>G | CA220490 | IDS | c.1403G>C (p.Arg468Pro) c.770G>C (p.Arg257Pro) c.1133G>C (p.Arg378Pro) | ClinVar dbSNP |
X | g.149482996C>T | CA340992 | IDS | c.1403G>A (p.Arg468Gln) c.770G>A (p.Arg257Gln) c.1133G>A (p.Arg378Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |