| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12893564C>G | CA404317502 | GCDH | c.416C>G (p.Ser139Trp) n.394C>G n.781C>G n.473C>G c.380C>G (p.Ser127Trp) c.353C>G (p.Ser118Trp) c.471C>G (p.Val157=) n.452C>G n.579C>G n.832C>G | ClinVar dbSNP |
| 19 | g.12893564C>T | CA274128 | GCDH | c.416C>T (p.Ser139Leu) n.394C>T n.781C>T n.473C>T c.380C>T (p.Ser127Leu) c.353C>T (p.Ser118Leu) c.471C>T (p.Val157=) n.452C>T n.579C>T n.832C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |