| 1 | g.23804441C>T | CA256131 | HMGCL | c.835G>A (p.Glu279Lys)
c.405G>A
c.*876G>A (n.*876G>A)
c.622G>A (p.Glu208Lys)
n.526G>A
| ClinVar dbSNP gnomAD v4 |
| 1 | g.23804441C= | CA1141580659 | HMGCL | c.835G= (p.Glu279=)
c.405G=
c.*876G= (n.*876G=)
c.622G= (p.Glu208=)
n.526G=
| dbSNP |
