Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_005425.5
p.R131W
c.391C>T
NM_005425.5
p.R101C
c.301C>T
NM_005425.5
p.C26G
c.76T>G
NM_005425.5
p.G134Splc
c.401-26G>C
NM_005425.5
p.Q39H
c.117G>C
NM_005425.5
p.P77Q
c.230C>A
NM_005425.5
p.S40N
c.119G>A
NM_005425.5
p.G43G
c.129C>A
NM_005425.5
p.Q47K
c.139C>A
NM_005425.5
p.R131Q
c.392G>A
NM_005425.5
p.H6R
c.17A>G
NM_005425.5
p.P9L
c.26C>T