Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_152546.3
p.R160H
c.479G>A
NM_152546.3
p.N236fs
c.706_707fs
NM_152546.3
p.F253L
c.757T>C
NM_152546.3
p.F253L
c.759T>A
NM_152546.3
p.F253L
c.759T>G
NM_152546.3
p.K258Q
c.772A>C
NM_152546.3
p.Q307P
c.920A>C
NM_152546.3
p.E12Q
c.34G>C
NM_152546.3
p.D46G
c.137A>G
NM_152546.3
p.R54W
c.160C>T
NM_152546.3
p.R54L
c.161G>T
NM_152546.3
p.D114A
c.341A>C