Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_001057.3
p.G231E
c.692G>A
NM_001057.3
p.R375H
c.1124G>A
NM_001057.3
p.Y289F
c.866A>T
NM_001057.3
p.T171A
c.511A>G
NM_001057.3
p.Y266F
c.797A>T
NM_001057.3
p.R103H
c.308G>A
NM_001057.3
p.C167G
c.499T>G
NM_001057.3
p.I202F
c.604A>T
NM_001057.3
p.C281Y
c.842G>A
NM_001057.3
p.M1V
c.1A>G
NM_001057.3
p.M1T
c.2T>C
NM_001057.3
p.I6insFs
c.16_17ins4