Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
NM_001297436.2
p.A429V
c.1286C>T
NM_001523.4
p.C14*
c.42C>A
NM_001297436.2
p.M35L
c.103A>T
NM_001523.4
p.L76M
c.226C>A
NM_001297436.2
p.E76*
c.226G>T
NM_001297436.2
p.V80E
c.239T>A
NM_001523.4
p.P88T
c.262C>A
NM_001297436.2
p.L88M
c.262C>A
NM_001523.4
p.A94E
c.281C>A
NM_001297436.2
p.D106E
c.318C>G
NM_001297436.2
p.D106E
c.318C>A
NM_001297436.2
p.P123T
c.367C>A