| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87934803A>C | CA16609532 | GALC | c.1987T>G (p.Trp663Gly) c.1918T>G (p.Trp640Gly) c.1909T>G (p.Trp637Gly) c.1744-804T>G (n.1744-804T>G) c.1279-804T>G (n.1279-804T>G) c.523T>G c.1819T>G (p.Trp607Gly) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87934803A= | CA2153350352 | GALC | c.1987T= (p.Trp663=) c.1918T= (p.Trp640=) c.1909T= (p.Trp637=) c.1744-804T= (n.1744-804T=) c.1279-804T= (n.1279-804T=) c.523T= c.1819T= (p.Trp607=) | dbSNP dbSNP |