Papers
RefSeq ID
Protein change
DNA change
1–12 of 154 variants
NM_130466.4
p.E21*
c.61G>T
NM_130466.4
p.R997P
c.2990G>C
NM_130466.4
p.R346Q
c.1037G>A
NM_130466.4
p.L482H
c.1445T>A
NM_130466.4
p.G779R
c.2335G>A
NM_130466.4
p.W389*
c.1166G>A
NM_130466.4
p.L539P
c.1616T>C
NM_130466.4
p.Q727P
c.2180A>C
NM_130466.4
p.R186*
c.556C>T
NM_130466.4
p.Q700*
c.2098C>T
NM_130466.4
p.G779R
c.2335G>C
NM_130466.4
p.W389*
c.1167G>A