Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_016141.4
p.Q277R
c.830A>G
NM_016141.4
p.G77R
c.229G>C
NM_016141.4
p.G77R
c.229G>A
NM_016141.4
p.V139I
c.415G>A
NM_016141.4
p.V146A
c.437T>C
NM_016141.4
p.I430delFs
c.1288delT
NM_016141.4
p.M1fs
c.1_2fs
NM_016141.4
p.M1K
c.2T>A
NM_016141.4
p.L48_W49insFs
c.144_145insTG
NM_016141.4
p.W49Splc
c.147-1G>C
NM_016141.4
p.Y103S
c.308A>C
NM_016141.4
p.D110A
c.329A>C