Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_017584.6
p.W225R
c.673T>C
NM_017584.6
p.V77M
c.229G>A
NM_017584.6
p.W225R
c.673T>A
NM_017584.6
p.P262L
c.785C>T
NM_017584.6
p.R29Q
c.86G>A
NM_017584.6
p.T49K
c.146C>A
NM_017584.6
p.T49M
c.146C>T
NM_017584.6
p.K59_H60Splc
c.177+1G>A
NM_017584.6
p.Q62*
c.184C>T
NM_017584.6
p.H110R
c.329A>G
NM_017584.6
p.D114Splc
c.340+1G>T
NM_017584.6
p.G141S
c.421G>A