Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_006062.3
p.R278H
c.833G>A
NM_006062.3
p.C6*
c.18C>A
NM_006062.3
p.V8A
c.23T>C
NM_006062.3
p.S10_F11del1
c.30_32delCTT
NM_006062.3
p.R26C
c.76C>T
NM_006062.3
p.R43W
c.127C>T
NM_006062.3
p.V50I
c.148G>A
NM_006062.3
p.A57T
c.169G>A
NM_006062.3
p.Y65Y
c.195T>C
NM_006062.3
p.Q115_V116Splc
c.345+4A>C
NM_006062.3
p.Q133delFs
c.398delA
NM_006062.3
p.Q141K
c.421C>A