| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625287del | CA16042033 | ARSA | c.1388del (p.Leu463ArgfsTer6) c.1130del (p.Leu377ArgfsTer6) c.180+76del c.*121del (n.*121del) c.1502del (p.Leu501ArgfsTer6) | ClinVar dbSNP |
| 22 | g.50625287A= | CA3244279076 | ARSA | c.1388T= (p.Leu463=) c.1130T= (p.Leu377=) c.180+76T= c.*121T= (n.*121T=) c.1502T= (p.Leu501=) | dbSNP |