Papers
RefSeq ID
Protein change
DNA change
NM_001242313.1
p.F159ins1
c.476_477insCTA
NM_001242313.1
p.R265*
c.793C>T
NM_001242313.1
p.R66C
c.196C>T
NM_001242313.1
p.Q109E
c.325C>G
NM_001242313.1
p.Y160ins1
c.478_479insACA
NM_001242313.1
p.P164L
c.491C>T
NM_001242313.1
p.Q182_N183Splc
c.546+5T>C
NM_001242313.1
p.S252N
c.755G>A