| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1001701_1001704del | CA2573137565 | IDUA | c.612_615del (p.Cys205ArgfsTer28) n.668_671del c.471_474del (p.Cys158ArgfsTer28) c.572_575del c.405_408del (p.Cys136ArgfsTer28) c.429_432del (p.Cys144ArgfsTer28) c.216_219del (p.Cys73ArgfsTer28) n.512_515del n.700_703del c.324_327del (p.Cys109ArgfsTer28) n.681_684del c.-349_-346del (n.-349_-346del) | ClinVar dbSNP |
| 4 | g.1001701_1001704dup | CA10576338 | IDUA | c.612_615dup (p.Ser206LeufsTer?) n.668_671dup c.471_474dup (p.Ser159LeufsTer?) c.572_575dup c.405_408dup (p.Ser137LeufsTer?) c.429_432dup (p.Ser145LeufsTer?) c.216_219dup (p.Ser74LeufsTer?) n.512_515dup n.700_703dup c.324_327dup (p.Ser110LeufsTer?) n.681_684dup c.-349_-346dup (n.-349_-346dup) | ClinVar dbSNP |