| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.121048504C>T | CA335040649 | GLUD2 | c.820C>T (p.Arg274Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048504C= | CA2455035160 | GLUD2 | c.820C= (p.Arg274=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.121048504C>T | CA335040649 | GLUD2 | c.820C>T (p.Arg274Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048504C= | CA2455035160 | GLUD2 | c.820C= (p.Arg274=) | dbSNP |