Papers
RefSeq ID
Protein change
DNA change
1–12 of 214 variants
NM_002700.3
p.L289F
c.865C>T
NM_002700.3
p.L223P
c.668T>C
NM_002700.3
p.L201_G202delFs
c.603_604delGG
NM_002700.3
p.E232K
c.694G>A
NM_002700.3
p.P164R
c.491C>G
NM_002700.3
p.R326K
c.977G>A
NM_002700.3
p.A336delFs
c.1007delC
NM_002700.3
p.Q113*
c.337C>T
NM_002700.3
p.G221_Q225delFs
c.662_675del14
NM_002700.3
p.R326*
c.976A>T
NM_002700.3
p.K328E
c.982A>G
NM_002700.3
p.L201fs
c.601_602fs