Papers
RefSeq ID
Protein change
DNA change
1–12 of 83 variants
NM_005002.5
p.R321P
c.962G>C
NM_005002.5
p.R360C
c.1078C>T
NM_005002.5
p.P294L
c.881C>T
NM_005002.5
p.R75H
c.224G>A
NM_005002.5
p.V243I
c.727G>A
NM_005002.5
p.D257A
c.770A>C
NM_005002.5
p.R354Q
c.1061G>A
NM_005002.5
p.G63*
c.187G>T
NM_005002.5
p.R132*
c.394C>T
NM_005002.5
p.G267Splc
c.801-1G>C
NM_005002.5
p.R360H
c.1079G>A
NM_005002.5
p.M1T
c.2T>C