Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_001286554.2
p.P88T
c.262C>A
NM_001286554.2
p.D218N
c.652G>A
NM_001286554.2
p.G485R
c.1453G>C
NM_001286554.2
p.G485R
c.1453G>A
NM_001286554.2
p.K5*
c.13A>T
NM_001286554.2
p.A13P
c.37G>C
NM_001286554.2
p.A13T
c.37G>A
NM_001286554.2
p.K40R
c.119A>G
NM_001286554.2
p.V44M
c.130G>A
NM_001286554.2
p.E51K
c.151G>A
NM_001286554.2
p.H53R
c.158A>G
NM_001286554.2
p.E60D
c.180G>T