Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_016306.6
p.R206*
c.616C>T
NM_016306.6
p.R34*
c.100C>T
NM_016306.6
p.I264V
c.790A>G
NM_016306.6
p.H53Q
c.159T>A
NM_016306.6
p.H53Q
c.159T>G
NM_016306.6
p.K200Splc
c.600-2A>C
NM_016306.6
p.N5insFs
c.14_15ins14
NM_016306.6
p.P54R
c.161C>G
NM_016306.6
p.K284_V285Splc
c.853-10G>A
NM_016306.6
p.N5ins4
c.14_15ins12
NM_016306.6
p.G23Splc
c.68+1G>A
NM_016306.6
p.R24*
c.70C>T