| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945637G>A | CA7296976 | GALC | c.1586C>T (p.Thr529Met) c.1517C>T (p.Thr506Met) c.1508C>T (p.Thr503Met) c.1418C>T (p.Thr473Met) c.953C>T (p.Thr318Met) c.206+2091C>T c.*984C>T (n.*984C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945637G>T | CA390746125 | GALC | c.1586C>A (p.Thr529Lys) c.1517C>A (p.Thr506Lys) c.1508C>A (p.Thr503Lys) c.1418C>A (p.Thr473Lys) c.953C>A (p.Thr318Lys) c.206+2091C>A c.*984C>A (n.*984C>A) | dbSNP gnomAD v4 |
| 14 | g.87945637G= | CA2153356851 | GALC | c.1586C= (p.Thr529=) c.1517C= (p.Thr506=) c.1508C= (p.Thr503=) c.1418C= (p.Thr473=) c.953C= (p.Thr318=) c.206+2091C= c.*984C= (n.*984C=) | dbSNP |