Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_001177701.3
p.G118Splc
c.352+1G>T
NM_001177701.3
p.T19N
c.56C>A
NM_001177701.3
p.Y36C
c.107A>G
NM_001177701.3
p.T40fs
c.118_119fs
NM_001177701.3
p.T40_M42delFs
c.118_125del8
NM_001177701.3
p.C100Y
c.299G>A
NM_001177701.3
p.R108W
c.322C>T
NM_001177701.3
p.Q33*
c.97C>T
NM_006860.5
p.Y35C
c.104A>G
NM_006860.5
p.C99Y
c.296G>A
NM_006860.5
p.G117Splc
c.350-2A>G
NM_001177701.3
p.R131Q
c.392G>A