Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
NM_020715.3
p.R1348*
c.4042C>T
NM_020715.3
p.Q113L
c.338A>T
NM_020715.3
p.N75S
c.224A>G
NM_020715.3
p.P313L
c.938C>T
NM_020715.3
p.R371Q
c.1112G>A
NM_020715.3
p.V470A
c.1409T>C
NM_020715.3
p.A542V
c.1625C>T
NM_020715.3
p.H735R
c.2204A>G
NM_020715.3
p.R1125G
c.3373A>G
NM_020715.3
p.R1179C
c.3535C>T
NM_020715.3
p.E22*
c.64G>T
NM_020715.3
p.A40V
c.119C>T