Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_153687.4
p.Y76H
c.226T>C
NM_153687.4
p.E3*
c.7G>T
NM_153687.4
p.A17A
c.51T>C
NM_153687.4
p.E25Q
c.73G>C
NM_153687.4
p.E25K
c.73G>A
NM_153687.4
p.G53R
c.157G>C
NM_153687.4
p.G53R
c.157G>A
NM_153687.4
p.K68T
c.203A>C
NM_153687.4
p.T83S
c.247A>T
NM_153687.4
p.T83S
c.248C>G
NM_153687.4
p.L89insFs
c.265dupC
NM_153687.4
p.K99T
c.296A>C