Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_005722.4
p.R6insFs
c.16dupA
NM_005722.4
p.G5R
c.13G>C
NM_005722.4
p.C11Y
c.32G>A
NM_005722.4
p.G16_F17Splc
c.48+515C>G
NM_005722.4
p.C20Y
c.59G>A
NM_005722.4
p.H30L
c.89A>T
NM_005722.4
p.I31L
c.91A>C
NM_005722.4
p.R38R
c.114A>G
NM_005722.4
p.I52M
c.156C>G
NM_005722.4
p.P73T
c.217C>A
NM_005722.4
p.P73S
c.217C>T
NM_005722.4
p.M74T
c.221T>C