Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
NM_001922.5
p.C40S
c.118T>A
NM_001922.5
p.C40S
c.119G>C
NM_001922.5
p.C61W
c.183C>G
NM_001922.5
p.R278*
c.832A>T
NM_001922.5
p.G59V
c.176G>T
NM_001922.5
p.G99Splc
c.296-2A>G
NM_001922.5
p.S192Y
c.575C>A
NM_001922.5
p.L142F
c.426G>T
NM_001922.5
p.L142F
c.426G>C
NM_001922.5
p.G213E
c.638G>A
NM_001922.5
p.R233L
c.698G>T
NM_001922.5
p.D269N
c.805G>A