Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
NM_007068.4
p.M200V
c.598A>G
NM_007068.4
p.D36N
c.106G>A
NM_007068.4
p.E10delFs
c.28delC
NM_007068.4
p.A272P
c.814G>C
NM_007068.4
p.I288T
c.863T>C
NM_007068.4
p.P287H
c.860C>A
NM_007068.4
p.E10fs
c.28_29fs
NM_007068.4
p.I37N
c.110T>A
NM_007068.4
p.T122A
c.364A>G
NM_007068.4
p.R129C
c.385C>T
NM_007068.4
p.K132R
c.395A>G
NM_007068.4
p.T164A
c.490A>G