Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1401418C>G | CA340769 | GAMT | c.59G>C (p.Trp20Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1401418C>T | CA402998328 | GAMT | c.59G>A (p.Trp20Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.1401418C>A | CA402998326 | GAMT | c.59G>T (p.Trp20Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |