Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_006067.5
p.E40K
c.118G>A
NM_006067.5
p.L42L
c.126C>A
NM_006067.5
p.L44M
c.130C>A
NM_006067.5
p.V55M
c.163G>A
NM_006067.5
p.L60fs
c.178_179fs
NM_006067.5
p.C82Y
c.245G>A
NM_006067.5
p.H85Q
c.255T>G
NM_006067.5
p.H85Q
c.255T>A
NM_006067.5
p.K100N
c.300G>T
NM_006067.5
p.K100N
c.300G>C
NM_006067.5
p.E117Q
c.349G>C
NM_006067.5
p.E117D
c.351G>T