Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_001010922.3
p.D90N
c.268G>A
NM_001010922.3
p.S4S
c.12C>T
NM_001010922.3
p.D21N
c.61G>A
NM_001010922.3
p.P25P
c.75A>G
NM_001010922.3
p.N33S
c.98A>G
NM_001010922.3
p.G43Splc
c.128-61C>T
NM_001010922.3
p.P45insFs
c.134dupC
NM_001010922.3
p.G55S
c.163G>A
NM_001010922.3
p.N74fs
c.220_221fs
NM_001010922.3
p.Q83*
c.247C>T
NM_001010922.3
p.Q102H
c.306G>T
NM_001010922.3
p.Q102H
c.306G>C