Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1399587C>T | CA402995906 | GAMT | c.328G>A (p.Val110Ile) c.11G>A n.161G>A c.259G>A (p.Val87Ile) c.13G>A (p.Val5Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399587C>A | CA314806 | GAMT | c.328G>T (p.Val110Phe) c.11G>T n.161G>T c.259G>T (p.Val87Phe) c.13G>T (p.Val5Phe) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |