Papers
RefSeq ID
Protein change
DNA change
1–12 of 246 variants
NM_001282597.3
p.N351H
c.1051A>C
NM_001282597.3
p.R136C
c.406C>T
NM_001282597.3
p.R175H
c.524G>A
NM_001282597.3
p.R229C
c.685C>T
NM_001282597.3
p.E266K
c.796G>A
NM_001282597.3
p.N70I
c.209A>T
NM_001282597.3
p.R136H
c.407G>A
NM_001282597.3
p.Q170*
c.508C>T
NM_001282597.3
p.R193G
c.577A>G
NM_001282597.3
p.A209T
c.625G>A
NM_001282597.3
p.R210Q
c.629G>A
NM_001282597.3
p.A223S
c.667G>T