Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_033198.4
p.L34P
c.101T>C
NM_033198.4
p.E308G
c.923A>G
NM_033198.4
p.R185C
c.553C>T
NM_033198.4
p.W36*
c.108G>A
NM_033198.4
p.Q156_D157Splc
c.468+1G>C
NM_033198.4
p.Q50*
c.148C>T
NM_033198.4
p.W36*
c.107G>A
NM_033198.4
p.Q58H
c.174G>C
NM_033198.4
p.R219Q
c.656G>A
NM_033198.4
p.W245*
c.734G>A
NM_033198.4
p.A250insFs
c.748dupG
NM_033198.4
p.P329R
c.986C>G