Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_018164.3
p.S227P
c.679T>C
NM_018164.3
p.R366*
c.1096C>T
NM_018164.3
p.R447*
c.1339C>T
NM_018164.3
p.E555D
c.1665A>T
NM_018164.3
p.E555D
c.1665A>C
NM_018164.3
p.E608E
c.1824G>A
NM_018164.3
p.N36D
c.106A>G
NM_018164.3
p.G40*
c.118G>T
NM_018164.3
p.M66T
c.197T>C
NM_018164.3
p.V76A
c.227T>C
NM_018164.3
p.D95N
c.283G>A
NM_018164.3
p.Q99*
c.295C>T