Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_001085411.3
p.R340*
c.1018C>T
NM_001085411.3
p.M1V
c.1A>G
NM_001085411.3
p.S188A
c.562T>G
NM_001085411.3
p.W319fs
c.955_956fs
NM_001085411.3
p.K76Q
c.226A>C
NM_001085411.3
p.D161A
c.482A>C
NM_001085411.3
p.R211H
c.632G>A
NM_001085411.3
p.S289A
c.865T>G
NM_001085411.3
p.K304Q
c.910A>C
NM_001085411.3
p.W319Splc
c.956+6T>C
NM_001085411.3
p.G25G
c.75A>T
NM_001085411.3
p.R36W
c.106C>T