| 19 | g.1398980C>T | CA254379 | GAMT | c.506G>A (p.Cys169Tyr)
c.189G>A
n.339G>A
c.437G>A (p.Cys146Tyr)
c.191G>A (p.Cys64Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1398980C= | CA2317699019 | GAMT | c.506G= (p.Cys169=)
c.189G=
n.339G=
c.437G= (p.Cys146=)
c.191G= (p.Cys64=)
| dbSNP |
