Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_001136571.2
p.R139H
c.416G>A
NM_001136571.2
p.A152V
c.455C>T
NM_001136571.2
p.L49M
c.145C>A
NM_001136571.2
p.P62L
c.185C>T
NM_001136571.2
p.L83M
c.247C>A
NM_001136571.2
p.P97T
c.289C>A
NM_001136571.2
p.T111I
c.332C>T
NM_001136571.2
p.G131E
c.392G>A
NM_001136571.2
p.P135S
c.403C>T
NM_001136571.2
p.A156V
c.467C>T
NM_001136571.2
p.G182R
c.544G>C
NM_001136571.2
p.G182R
c.544G>A