Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_030783.3
p.V250M
c.748G>A
NM_030783.3
p.A423V
c.1268C>T
NM_030783.3
p.E266K
c.796G>A
NM_030783.3
p.A63A
c.189C>A
NM_030783.3
p.T65I
c.194C>T
NM_030783.3
p.T73I
c.218C>T
NM_030783.3
p.G115G
c.345G>A
NM_030783.3
p.T183I
c.548C>T
NM_030783.3
p.D184_P185insFs
c.552_553ins5
NM_030783.3
p.N188N
c.564C>T
NM_030783.3
p.P198L
c.593C>T
NM_030783.3
p.R212*
c.634C>T