| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625666_50625669del | CA2410958605 | ARSA | c.1123_1126del (p.Leu375SerfsTer?) c.865_868del (p.Leu289SerfsTer?) c.1108-202_1108-199del (n.1108-202_1108-199del) | ClinVar dbSNP |
| 22 | g.50625668_50625669del | CA278421 | ARSA | c.1125_1126del (p.Phe376LeufsTer?) c.867_868del (p.Phe290LeufsTer?) c.1108-200_1108-199del (n.1108-200_1108-199del) c.1125_1126del (p.Phe376LeufsTer29) | ClinVar dbSNP |