Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_130439.3
p.E242Splc
c.725-20T>C
Surrounding Variants
NM_130439.3
p.E242Splc
c.725-9C>T
NM_130439.3
p.S254C
c.761C>G
NM_130439.3
p.I269T
c.806T>C
NM_130439.3
p.M225I
c.675G>A
NM_130439.3
p.M225I
c.675G>C
NM_130439.3
p.M225I
c.675G>T
NM_130439.3
p.R224*
c.670C>T
NM_130439.3
p.I223K
c.668T>A
NM_130439.3
p.R222Q
c.665G>A
NM_130439.3
p.R222*
c.664C>T
NM_130439.3
p.E219A
c.656A>C
NM_130439.3
p.E203_Q204delFs
c.607_610del4