Papers
RefSeq ID
Protein change
DNA change
NM_001135113.2
p.S12L
c.35C>T
NM_001135113.2
p.C34*
c.102C>A
NM_001135113.2
p.P38T
c.112C>A
NM_001135113.2
p.Y45*
c.135C>A
NM_001135113.2
p.S61R
c.181A>C
NM_001135113.2
p.S61R
c.183C>A
NM_001135113.2
p.S61R
c.183C>G
NM_001135113.2
p.C66Y
c.197G>A
NM_001135113.2
p.P69S
c.205C>T
NM_001135113.2
p.G85A
c.254G>C
NM_001135113.2
p.R117H
c.350G>A
NM_001135113.2
p.*120S
c.359G>C