Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_017560.3
p.Q190*
c.568C>T
NM_017560.3
p.G8R
c.22G>A
NM_017560.3
p.G8R
c.22G>C
NM_017560.3
p.Q30R
c.89A>G
NM_017560.3
p.E594D
c.1782G>C
NM_017560.3
p.E594D
c.1782G>T
NM_017560.3
p.F25L
c.73T>C
NM_017560.3
p.F25L
c.75C>A
NM_017560.3
p.F25L
c.75C>G
NM_017560.3
p.G44Splc
c.130+1874A>G
NM_017560.3
p.S49fs
c.145_146fs
NM_017560.3
p.R83R
c.247C>A