Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_001033678.4
p.G16S
c.46G>A
NM_001033678.4
p.G6E
c.17G>A
NM_001033678.4
p.R23*
c.67C>T
NM_001033678.4
p.L44S
c.131T>C
NM_001033678.4
p.K45insFs
c.133_134ins4
NM_001033678.4
p.K45fs
c.133_134fs
NM_001033678.4
p.F55F
c.165C>T
NM_001033678.4
p.P65S
c.193C>T
NM_001033678.4
p.A72V
c.215C>T
NM_001033678.4
p.I100L
c.298A>C
NM_001033678.4
p.P117H
c.350C>A
NM_001033678.4
p.A123V
c.368C>T