Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
NM_006824.3
p.P76R
c.227C>G
NM_006824.3
p.P34S
c.100C>T
NM_006824.3
p.R223H
c.668G>A
NM_006824.3
p.L17P
c.50T>C
NM_006824.3
p.S143delFs
c.428delG
NM_006824.3
p.Q203K
c.607C>A
NM_006824.3
p.G278D
c.833G>A
NM_006824.3
p.R283W
c.847A>T
NM_006824.3
p.N290I
c.869A>T
NM_006824.3
p.M1T
c.2T>C
NM_006824.3
p.D2N
c.4G>A
NM_006824.3
p.M1insFs
c.3dupG