Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001399.5
p.S50*
c.149C>A
Surrounding Variants
NM_001399.5
p.L49H
c.146T>A
NM_001399.5
p.L51Q
c.152T>A
NM_001399.5
p.L49P
c.146T>C
NM_001399.5
p.L49insFs
c.146dupT
NM_001399.5
p.A52_L53Fs
c.156_157delinsCFs
NM_001399.5
p.G48D
c.143G>A
NM_001399.5
p.F47L
c.141T>G
NM_001399.5
p.L53H
c.158T>A
NM_001399.5
p.H54D
c.160C>G
NM_001399.5
p.H54Y
c.160C>T
NM_001399.5
p.H54R
c.161A>G
NM_001399.5
p.G45D
c.134G>A