Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_005893.3
p.R24C
c.70C>T
NM_005893.3
p.H42L
c.125A>T
NM_005893.3
p.S75N
c.224G>A
NM_005893.3
p.L77P
c.230T>C
NM_005893.3
p.G285S
c.853G>A
NM_005893.3
p.R316W
c.946C>T
NM_005893.3
p.R432W
c.1294C>T
NM_005893.3
p.C447*
c.1341C>A
NM_005893.3
p.V455M
c.1363G>A
NM_005893.3
p.R485W
c.1453C>T
NM_005893.3
p.M1insFs
c.2dupT
NM_005893.3
p.M1delFs
c.2delT