Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_006694.4
p.V34L
c.100G>T
NM_006694.4
p.V34L
c.100G>C
NM_006694.4
p.L2P
c.5T>C
NM_006694.4
p.G4D
c.11G>A
NM_006694.4
p.A5T
c.13G>A
NM_006694.4
p.G6fs
c.16_17fs
NM_006694.4
p.R7fs
c.19_20fs
NM_006694.4
p.R7W
c.19A>T
NM_006694.4
p.R7S
c.21G>T
NM_006694.4
p.R7S
c.21G>C
NM_006694.4
p.L10L
c.30C>T
NM_006694.4
p.Q12*
c.34C>T