Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_006936.3
p.K11R
c.32A>G
NM_006936.3
p.Q89P
c.266A>C
NM_006936.3
p.K7*
c.19A>T
NM_006936.3
p.N18I
c.53A>T
NM_006936.3
p.G23E
c.68G>A
NM_006936.3
p.P38S
c.112C>T
NM_006936.3
p.C47S
c.139T>A
NM_006936.3
p.C47S
c.140G>C
NM_006936.3
p.C47Y
c.140G>A
NM_006936.3
p.Q50_G51Splc
c.150+23A>G
NM_001286416.2
p.S59G
c.175A>G
NM_001286416.2
p.L60V
c.178C>G