Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_005898.5
p.Q399*
c.1195C>T
NM_005898.5
p.P512L
c.1535C>T
NM_005898.5
p.E293E
c.879G>A
NM_005898.5
p.I373K
c.1118T>A
NM_005898.5
p.Q446H
c.1338A>C
NM_005898.5
p.Q446H
c.1338A>T
NM_005898.5
p.Q582*
c.1744C>T
NM_005898.5
p.R616H
c.1847G>A
NM_005898.5
p.M1insFs
c.2dupT
NM_005898.5
p.K13K
c.39G>A
NM_005898.5
p.S26C
c.76A>T
NM_005898.5
p.L58L
c.174C>T