Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_025264.5
p.R17*
c.49C>T
NM_025264.5
p.D176Y
c.526G>T
NM_025264.5
p.A300P
c.898G>C
NM_025264.5
p.G23S
c.67G>A
NM_025264.5
p.G25V
c.74G>T
NM_025264.5
p.N99_S104delFs
c.295_311del17
NM_025264.5
p.N114fs
c.340_341fs
NM_025264.5
p.N114delFs
c.341delT
NM_025264.5
p.K122R
c.365A>G
NM_025264.5
p.R159G
c.475A>G
NM_025264.5
p.E182D
c.546A>T
NM_025264.5
p.E182D
c.546A>C