Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_033449.3
p.Q358P
c.1073A>C
NM_033449.3
p.R183W
c.547C>T
NM_033449.3
p.R352*
c.1054C>T
NM_033449.3
p.R357Q
c.1070G>A
NM_033449.3
p.D445fs
c.1333_1334fs
NM_033449.3
p.D661A
c.1982A>C
NM_033449.3
p.P676P
c.2028G>A
NM_033449.3
p.K7_V8Splc
c.21+1G>A
NM_033449.3
p.A33V
c.98C>T
NM_033449.3
p.R78Splc
c.234-1G>C
NM_033449.3
p.R87H
c.260G>A
NM_033449.3
p.G96E
c.287G>A