Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
NM_018112.3
p.W169*
c.506G>A
NM_018112.3
p.G152fs
c.454_455fs
NM_018112.3
p.W169*
c.507G>A
NM_018112.3
p.G152Splc
c.455-7T>G
NM_018112.3
p.W169insFs
c.506dupG
NM_018112.3
p.F21insFs
c.63dupT
NM_018112.3
p.S50R
c.148A>C
NM_018112.3
p.S50R
c.150C>A
NM_018112.3
p.S50R
c.150C>G
NM_018112.3
p.G189W
c.565G>T
NM_018112.3
p.T226I
c.677C>T
NM_018112.3
p.A40V
c.119C>T