Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_001031677.4
p.Q38P
c.113A>C
NM_001031677.4
p.R107H
c.320G>A
NM_001031677.4
p.S74R
c.220A>C
NM_001031677.4
p.S74R
c.222T>G
NM_001031677.4
p.S74R
c.222T>A
NM_001031677.4
p.Y116C
c.347A>G
NM_001031677.4
p.M1I
c.3G>T
NM_001031677.4
p.M1I
c.3G>C
NM_001031677.4
p.M1I
c.3G>A
NM_001031677.4
p.R5ins5
c.13_14ins15
NM_001031677.4
p.D7N
c.19G>A
NM_001031677.4
p.L13_G14ins15
c.37_41ins45