Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001059.3
p.Y247*
c.741C>G
Surrounding Variants
NM_001059.3
p.Y247*
c.741C>A
NM_001059.3
p.H248R
c.743A>G
NM_001059.3
p.T246Splc
c.738-1G>A
NM_001059.3
p.I249V
c.745A>G
NM_001059.3
p.I250I
c.750C>T
NM_001059.3
p.I253_L254del2
c.757_761del6
NM_001059.3
p.Y256H
c.766T>C
NM_001059.3
p.F258fs
c.772_773fs
NM_001059.3
p.I262delFs
c.785delA
NM_001059.3
p.Y267H
c.799T>C
NM_001059.3
p.Y267N
c.799T>A
NM_001059.3
p.I269_G271delFs
c.805_812del8