Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_006418.5
p.R214*
c.640C>T
NM_006418.5
p.S36P
c.106T>C
NM_006418.5
p.R319Q
c.956G>A
NM_006418.5
p.R2W
c.4A>T
NM_006418.5
p.L12P
c.35T>C
NM_006418.5
p.G33V
c.98G>T
NM_006418.5
p.F34S
c.101T>C
NM_006418.5
p.P38S
c.112C>T
NM_006418.5
p.V40I
c.118G>A
NM_006418.5
p.S42insFs
c.124dupT
NM_006418.5
p.F46Y
c.137T>A
NM_006418.5
p.Q68H
c.204G>C