Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_001080476.3
p.R147C
c.439C>T
NM_001080476.3
p.R262*
c.784C>T
NM_001080476.3
p.E9K
c.25G>A
NM_001080476.3
p.G91V
c.272G>T
NM_001080476.3
p.R138C
c.412C>T
NM_001080476.3
p.G209_G210Splc
c.628-9C>A
NM_001080476.3
p.Q77*
c.229C>T
NM_001080476.3
p.F153V
c.457T>G
NM_001080476.3
p.R262Q
c.785G>A
NM_001080476.3
p.R19Q
c.56G>A
NM_001080476.3
p.P38L
c.113C>T
NM_001080476.3
p.G64S
c.190G>A