Papers
RefSeq ID
Protein change
DNA change
1–12 of 211 variants
NM_016156.6
p.G103E
c.308G>A
NM_016156.6
p.E276*
c.826G>T
NM_016156.6
p.C417S
c.1249T>A
NM_016156.6
p.C417S
c.1250G>C
NM_016156.6
p.R111insFs
c.331dupA
NM_016156.6
p.K3T
c.8A>C
NM_016156.6
p.S58A
c.172T>G
NM_016156.6
p.R364*
c.1090C>T
NM_016156.6
p.W583*
c.1748G>A
NM_016156.6
p.W583*
c.1749G>A
NM_016156.6
p.R162*
c.484C>T
NM_016156.6
p.I281_T282delFs
c.841_844del4