| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1398964C>T | CA314812 | GAMT | c.522G>A (p.Trp174Ter) c.205G>A n.355G>A c.453G>A (p.Trp151Ter) c.207G>A (p.Trp69Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1398964C>G | CA402994365 | GAMT | c.522G>C (p.Trp174Cys) c.205G>C n.355G>C c.453G>C (p.Trp151Cys) c.207G>C (p.Trp69Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1398964C>A | CA402994362 | GAMT | c.522G>T (p.Trp174Cys) c.205G>T n.355G>T c.453G>T (p.Trp151Cys) c.207G>T (p.Trp69Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |