| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88841948G>A | CA286406375 | GALNS | c.268C>T (p.Arg90Trp) n.3677C>T c.52C>T (p.Arg18Trp) n.403C>T c.93C>T (p.Asp31=) n.98C>T c.387C>T (n.387C>T) c.286C>T (p.Arg96Trp) c.-288C>T (n.-288C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88841948G>C | CA397089304 | GALNS | c.268C>G (p.Arg90Gly) n.3677C>G c.52C>G (p.Arg18Gly) n.403C>G c.93C>G (p.Asp31Glu) n.98C>G c.387C>G (n.387C>G) c.286C>G (p.Arg96Gly) c.-288C>G (n.-288C>G) | ClinVar dbSNP |