Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_000420.3
p.L53Q
c.158T>A
Surrounding Variants
NM_000420.3
p.I54fs
c.160_161fs
NM_000420.3
p.I54Fs
c.160_161delinsCTCCFs
NM_000420.3
p.L49P
c.146T>C
NM_000420.3
p.L58F
c.172C>T
NM_000420.3
p.L58P
c.173T>C
NM_000420.3
p.V48A
c.143T>C
NM_000420.3
p.L59H
c.176T>A
NM_000420.3
p.R47P
c.140G>C
NM_000420.3
p.R47Q
c.140G>A
NM_000420.3
p.R47W
c.139C>T
NM_000420.3
p.C60Y
c.179G>A
NM_000420.3
p.S62fs
c.184_185fs