Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_013385.5
p.G103G
c.309C>T
NM_013385.5
p.F147L
c.439T>C
NM_013385.5
p.F147L
c.441C>A
NM_013385.5
p.F147L
c.441C>G
NM_013385.5
p.P202L
c.605C>T
NM_013385.5
p.R363H
c.1088G>A
NM_013385.5
p.E10K
c.28G>A
NM_013385.5
p.S13S
c.39C>T
NM_013385.5
p.G14R
c.40G>A
NM_013385.5
p.W24*
c.71G>A
NM_013385.5
p.W24*
c.72G>A
NM_013385.5
p.S56Splc
c.168-3C>T