Papers
RefSeq ID
Protein change
DNA change
1–12 of 190 variants
NM_018948.4
p.D109N
c.325G>A
NM_018948.4
p.R247K
c.740G>A
NM_018948.4
p.E384*
c.1150G>T
NM_018948.4
p.Y394F
c.1181A>T
NM_018948.4
p.Y395F
c.1184A>T
NM_018948.4
p.H21R
c.62A>G
NM_018948.4
p.A70T
c.208G>A
NM_018948.4
p.N135fs
c.403_404fs
NM_018948.4
p.N135fs
c.403_404fs
NM_018948.4
p.N135delFs
c.404delT
NM_018948.4
p.F140Y
c.419T>A
NM_018948.4
p.D168N
c.502G>A