Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_031894.3
p.E148V
c.443A>T
NM_031894.3
p.E148*
c.442G>T
NM_031894.3
p.Q11*
c.31C>T
NM_031894.3
p.D14N
c.40G>A
NM_031894.3
p.D46N
c.136G>A
NM_031894.3
p.A48A
c.144C>T
NM_031894.3
p.R58C
c.172C>T
NM_031894.3
p.S60T
c.178T>A
NM_031894.3
p.M64delFs
c.190delT
NM_031894.3
p.M64fs
c.190_191fs
NM_031894.3
p.R77C
c.229C>T
NM_031894.3
p.H80Q
c.240C>G