Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_015484.5
p.D194N
c.580G>A
Surrounding Variants
NM_015484.5
p.K195I
c.584A>T
NM_015484.5
p.I190F
c.568A>T
NM_015484.5
p.Q189Splc
c.567-2A>T
NM_015484.5
p.R214delFs
c.642delC
NM_015484.5
p.R224*
c.670A>T
NM_015484.5
p.Y226F
c.677A>T
NM_015484.5
p.Y226S
c.677A>C
NM_015484.5
p.G227G
c.681G>C
NM_015484.5
p.T230P
c.688A>C
NM_015484.5
p.V243_*244insFs
c.729_730insTT
NM_015484.5
p.Q189Splc
c.566+5G>A
NM_015484.5
p.Q189Splc
c.566+1G>A