Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_005777.3
p.E333K
c.997G>A
NM_005777.3
p.G98insFs
c.293dupG
NM_005777.3
p.R96fs
c.286_287fs
NM_005777.3
p.P172L
c.515C>T
NM_005777.3
p.A8T
c.22G>A
NM_005777.3
p.R10R
c.28A>C
NM_005777.3
p.R10insFs
c.29_30insA
NM_005777.3
p.F22Y
c.65T>A
NM_005777.3
p.P24S
c.70C>T
NM_005777.3
p.P33fs
c.97_98fs
NM_005777.3
p.P33_P34insFs
c.99_100insC
NM_005777.3
p.H38Q
c.114T>A