Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_006368.5
p.D78A
c.233A>C
NM_006368.5
p.R119G
c.355A>G
NM_006368.5
p.L120P
c.359T>C
NM_006368.5
p.R155Q
c.464G>A
NM_006368.5
p.R168H
c.503G>A
NM_006368.5
p.A14D
c.41C>A
NM_006368.5
p.A14V
c.41C>T
NM_006368.5
p.F15S
c.44T>C
NM_006368.5
p.F15_L16insFs
c.45_46insT
NM_006368.5
p.E19V
c.56A>T
NM_006368.5
p.S20N
c.59G>A
NM_006368.5
p.G24W
c.70G>T