Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
NM_020795.4
p.R215H
c.644G>A
NM_020795.4
p.R621H
c.1862G>A
NM_020795.4
p.N213Y
c.637A>T
NM_020795.4
p.V510M
c.1528G>A
NM_020795.4
p.A637T
c.1909G>A
NM_020795.4
p.Y147*
c.441C>A
NM_020795.4
p.Y147*
c.441C>G
NM_020795.4
p.G381G
c.1143C>T
NM_020795.4
p.R448C
c.1342C>T
NM_020795.4
p.R448H
c.1343G>A
NM_020795.4
p.A755V
c.2264C>T
NM_020795.4
p.P757S
c.2269C>T