Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_001039702.3
p.S101C
c.301A>T
NM_001039702.3
p.K136K
c.408G>A
NM_001039702.3
p.H237R
c.710A>G
NM_001039702.3
p.H237L
c.710A>T
NM_001039702.3
p.M1K
c.2T>A
NM_001039702.3
p.P23P
c.69T>A
NM_001039702.3
p.C31Y
c.92G>A
NM_001039702.3
p.V55Splc
c.164-1G>A
NM_001039702.3
p.G62A
c.185G>C
NM_001039702.3
p.R63R
c.187A>C
NM_001039702.3
p.E64*
c.190G>T
NM_001039702.3
p.D80H
c.238G>C