Papers
RefSeq ID
Protein change
DNA change
NM_001130448.3
p.E2K
c.4G>A
NM_001130448.3
p.R28*
c.82C>T
NM_001130448.3
p.G57R
c.169G>A
NM_001130448.3
p.G57R
c.169G>C
NM_001130448.3
p.T75N
c.224C>A
NM_001130448.3
p.L77L
c.229C>T
NM_001130448.3
p.P83A
c.247C>G
NM_001130448.3
p.L114F
c.340C>T
NM_001130448.3
p.*176L
c.527A>T