| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87965582T>C | CA7297190 | GALC | c.956A>G (p.Tyr319Cys) c.887A>G (p.Tyr296Cys) c.878A>G (p.Tyr293Cys) n.946A>G c.788A>G (p.Tyr263Cys) c.323A>G (p.Tyr108Cys) c.*354A>G (n.*354A>G) n.42A>G c.946A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87965582T>A | CA390747566 | GALC | c.956A>T (p.Tyr319Phe) c.887A>T (p.Tyr296Phe) c.878A>T (p.Tyr293Phe) n.946A>T c.788A>T (p.Tyr263Phe) c.323A>T (p.Tyr108Phe) c.*354A>T (n.*354A>T) n.42A>T c.946A>T | dbSNP gnomAD v4 |
| 14 | g.87965582T= | CA2153345222 | GALC | c.956A= (p.Tyr319=) c.887A= (p.Tyr296=) c.878A= (p.Tyr293=) n.946A= c.788A= (p.Tyr263=) c.323A= (p.Tyr108=) c.*354A= (n.*354A=) n.42A= c.946A= | dbSNP |