| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12893487T>G | CA16041967 | GCDH | c.339T>G (p.Tyr113Ter) n.317T>G n.704T>G c.387T>G (p.Tyr129Ter) n.396T>G c.303T>G (p.Tyr101Ter) c.276T>G (p.Tyr92Ter) c.394T>G (p.Trp132Gly) n.375T>G n.502T>G n.755T>G | ClinVar dbSNP |
| 19 | g.12893487T>A | CA9234370 | GCDH | c.339T>A (p.Tyr113Ter) n.317T>A n.704T>A c.387T>A (p.Tyr129Ter) n.396T>A c.303T>A (p.Tyr101Ter) c.276T>A (p.Tyr92Ter) c.394T>A (p.Trp132Arg) n.375T>A n.502T>A n.755T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |