| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87968381A>G | CA220413 | GALC | c.862T>C (p.Trp288Arg) c.793T>C (p.Trp265Arg) c.784T>C (p.Trp262Arg) n.852T>C c.694T>C (p.Trp232Arg) c.229T>C (p.Trp77Arg) c.*260T>C (n.*260T>C) c.852T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.87968381A>T | CA390747819 | GALC | c.862T>A (p.Trp288Arg) c.793T>A (p.Trp265Arg) c.784T>A (p.Trp262Arg) n.852T>A c.694T>A (p.Trp232Arg) c.229T>A (p.Trp77Arg) c.*260T>A (n.*260T>A) c.852T>A | dbSNP gnomAD v4 |
| 14 | g.87968381A= | CA2153346448 | GALC | c.862T= (p.Trp288=) c.793T= (p.Trp265=) c.784T= (p.Trp262=) n.852T= c.694T= (p.Trp232=) c.229T= (p.Trp77=) c.*260T= (n.*260T=) c.852T= | dbSNP |