| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87986552G>A | CA7297405 | GALC | c.379C>T (p.Arg127Ter) c.310C>T (p.Arg104Ter) c.301C>T (p.Arg101Ter) n.369C>T c.211C>T (p.Arg71Ter) c.*128C>T (n.*128C>T) n.258C>T n.80C>T c.439C>T (n.439C>T) c.369C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87986552G>T | CA487366614 | GALC | c.379C>A (p.Arg127=) c.310C>A (p.Arg104=) c.301C>A (p.Arg101=) n.369C>A c.211C>A (p.Arg71=) c.*128C>A (n.*128C>A) n.258C>A n.80C>A c.439C>A (n.439C>A) c.369C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87986552G>C | CA7297404 | GALC | c.379C>G (p.Arg127Gly) c.310C>G (p.Arg104Gly) c.301C>G (p.Arg101Gly) n.369C>G c.211C>G (p.Arg71Gly) c.*128C>G (n.*128C>G) n.258C>G n.80C>G c.439C>G (n.439C>G) c.369C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |