Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_001085455.3
p.G148S
c.442G>A
NM_001085455.3
p.P2L
c.5C>T
NM_001085455.3
p.V32delFs
c.96delA
NM_001085455.3
p.T33fs
c.97_98fs
NM_001085455.3
p.H45Q
c.135C>G
NM_001085455.3
p.H45Q
c.135C>A
NM_001085455.3
p.S64S
c.192C>A
NM_001085455.3
p.G66S
c.196G>A
NM_001085455.3
p.E77G
c.230A>G
NM_001085455.3
p.K79M
c.236A>T
NM_001085455.3
p.Q102H
c.306A>T
NM_001085455.3
p.Q102H
c.306A>C