Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
NM_001122848.3
p.C10R
c.28T>C
NM_001122848.3
p.V222I
c.664G>A
NM_001122848.3
p.I408T
c.1223T>C
NM_001122848.3
p.G3E
c.8G>A
NM_001122848.3
p.P12S
c.34C>T
NM_001122848.3
p.A14A
c.42A>G
NM_001122848.3
p.T40A
c.118A>G
NM_001122848.3
p.V46M
c.136G>A
NM_001122848.3
p.I54T
c.161T>C
NM_001122848.3
p.G57_N58insFs
c.171_172ins31
NM_001122848.3
p.P63_Y64insFs
c.189_190ins4
NM_001122848.3
p.G72insFs
c.215_216insCT