| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87947818dup | CA16042900 | GALC | c.1399dup (p.Thr467AsnfsTer25) c.1330dup (p.Thr444AsnfsTer25) c.1321dup (p.Thr441AsnfsTer25) c.1231dup (p.Thr411AsnfsTer25) c.766dup (p.Thr256AsnfsTer25) c.116dup c.*797dup (n.*797dup) | ClinVar dbSNP |
| 14 | g.87947818T= | CA3206973076 | GALC | c.1399A= (p.Thr467=) c.1330A= (p.Thr444=) c.1321A= (p.Thr441=) c.1231A= (p.Thr411=) c.766A= (p.Thr256=) c.116A= c.*797A= (n.*797A=) | dbSNP |