Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_139242.4
p.S209L
c.626C>T
NM_139242.4
p.R332*
c.994C>T
NM_139242.4
p.R181fs
c.541_542fs
NM_139242.4
p.S125L
c.374C>T
NM_139242.4
p.C365Y
c.1094G>A
NM_139242.4
p.F58I
c.172T>A
NM_139242.4
p.P151L
c.452C>T
NM_139242.4
p.R128*
c.382C>T
NM_139242.4
p.Q25*
c.73C>T
NM_139242.4
p.F367fs
c.1099_1100fs
NM_139242.4
p.M1L
c.1A>C
NM_139242.4
p.R49fs
c.145_146fs