| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87965592G>T | CA7297192 | GALC | c.946C>A (p.Gln316Lys) c.877C>A (p.Gln293Lys) c.868C>A (p.Gln290Lys) n.936C>A c.778C>A (p.Gln260Lys) c.313C>A (p.Gln105Lys) c.*344C>A (n.*344C>A) n.32C>A c.936C>A | dbSNP ExAC |
| 14 | g.87965592G>A | CA16041701 | GALC | c.946C>T (p.Gln316Ter) c.877C>T (p.Gln293Ter) c.868C>T (p.Gln290Ter) n.936C>T c.778C>T (p.Gln260Ter) c.313C>T (p.Gln105Ter) c.*344C>T (n.*344C>T) n.32C>T c.936C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |