Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_001040185.3
p.P326P
c.978G>T
NM_001040185.3
p.E407G
c.1220A>G
NM_001040185.3
p.S433T
c.1298G>C
NM_001040185.3
p.N508Y
c.1522A>T
NM_001040185.3
p.Q29H
c.87G>C
NM_001040185.3
p.Q29H
c.87G>T
NM_001040185.3
p.V45fs
c.133_134fs
NM_001040185.3
p.V45delFs
c.134delT
NM_001040185.3
p.V45V
c.135C>T
NM_001040185.3
p.D84H
c.250G>C
NM_001040185.3
p.R106I
c.317G>T
NM_001040185.3
p.D170N
c.508G>A