Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_005853.6
p.N166K
c.498C>A
NM_005853.6
p.N166K
c.498C>G
NM_005853.6
p.A150P
c.448G>C
NM_005853.6
p.P255T
c.763C>A
NM_005853.6
p.Q10*
c.28C>T
NM_005853.6
p.S80_S81del1
c.240_242delCTC
NM_005853.6
p.S81del1
c.241_242delTCG
NM_005853.6
p.E192del1
c.574_575delGAG
NM_005853.6
p.P236L
c.707C>T
NM_005853.6
p.G266insFs
c.797_798insC
NM_005853.6
p.R269fs
c.805_806fs
NM_005853.6
p.T342I
c.1025C>T