Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_022918.4
p.G218R
c.652G>A
NM_022918.4
p.G218R
c.652G>C
NM_022918.4
p.A3ins16
c.7_8ins48
NM_022918.4
p.P9R
c.26C>G
NM_022918.4
p.E67Q
c.199G>C
NM_022918.4
p.L69V
c.205C>G
NM_022918.4
p.Q70delFs
c.208delC
NM_022918.4
p.Q70fs
c.208_209fs
NM_022918.4
p.R90S
c.270G>C
NM_022918.4
p.R90S
c.270G>T
NM_022918.4
p.R90S
c.270G>T
NM_022918.4
p.Y97F
c.290A>T