Papers
RefSeq ID
Protein change
DNA change
1–12 of 117 variants
NM_004741.5
p.S456P
c.1366T>C
NM_004741.5
p.R111*
c.331C>T
NM_004741.5
p.D134G
c.401A>G
NM_004741.5
p.S221del1
c.661_663delAGC
NM_004741.5
p.S227del1
c.679_680delAGT
NM_004741.5
p.A2V
c.5C>T
NM_004741.5
p.G5R
c.13G>C
NM_004741.5
p.Y15F
c.44A>T
NM_004741.5
p.P16insFs
c.47_48insG
NM_004741.5
p.L19F
c.55C>T
NM_004741.5
p.G20S
c.58G>A
NM_004741.5
p.G20D
c.59G>A