Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_014347.3
p.R190G
c.568A>G
NM_014347.3
p.E13D
c.39G>C
NM_014347.3
p.E13D
c.39G>T
NM_014347.3
p.R28H
c.83G>A
NM_014347.3
p.S39*
c.116C>A
NM_014347.3
p.D100V
c.299A>T
NM_014347.3
p.M105V
c.313A>G
NM_014347.3
p.R126P
c.377G>C
NM_014347.3
p.V172I
c.514G>A
NM_014347.3
p.R173Q
c.518G>A
NM_014347.3
p.P197R
c.590C>G
NM_014347.3
p.G204A
c.611G>C