Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
NM_001162498.3
p.D63V
c.188A>T
NM_001162498.3
p.G146R
c.436G>A
NM_001162498.3
p.E189K
c.565G>A
NM_001162498.3
p.G146R
c.436G>C
NM_001162498.3
p.I188F
c.562A>T
NM_001162498.3
p.K125delFs
c.373_374delTT
NM_001162498.3
p.S3T
c.8G>C
NM_001162498.3
p.M23_F24insFs
c.69_70ins4
NM_001162498.3
p.L59delFs
c.177delC
NM_001162498.3
p.Q155*
c.463C>T
NM_001162498.3
p.C278Y
c.833G>A
NM_001162498.3
p.N12_D13insFs
c.36_37insA