| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945631C>A | CA390746115 | GALC | c.1592G>T (p.Arg531Leu) c.1523G>T (p.Arg508Leu) c.1514G>T (p.Arg505Leu) c.1424G>T (p.Arg475Leu) c.959G>T (p.Arg320Leu) c.206+2097G>T c.*990G>T (n.*990G>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945631C>G | CA390746116 | GALC | c.1592G>C (p.Arg531Pro) c.1523G>C (p.Arg508Pro) c.1514G>C (p.Arg505Pro) c.1424G>C (p.Arg475Pro) c.959G>C (p.Arg320Pro) c.206+2097G>C c.*990G>C (n.*990G>C) | ClinVar dbSNP |
| 14 | g.87945631C>T | CA234058 | GALC | c.1592G>A (p.Arg531His) c.1523G>A (p.Arg508His) c.1514G>A (p.Arg505His) c.1424G>A (p.Arg475His) c.959G>A (p.Arg320His) c.206+2097G>A c.*990G>A (n.*990G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |