Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_001085487.3
p.E390*
c.1168G>T
NM_001085487.3
p.H656R
c.1967A>G
NM_001085487.3
p.T264A
c.790A>G
NM_001085487.3
p.D88E
c.264T>A
NM_001085487.3
p.R478*
c.1432C>T
NM_001085487.3
p.Y489*
c.1467C>G
NM_001085487.3
p.Y489*
c.1467C>A
NM_001085487.3
p.L133L
c.399G>A
NM_001085487.3
p.R138*
c.412C>T
NM_001085487.3
p.C200S
c.598T>A
NM_001085487.3
p.C200S
c.599G>C
NM_001085487.3
p.E614_V615Splc
c.1843-1G>A