Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_001174070.3
p.P187L
c.560C>T
NM_001174070.3
p.L4V
c.10C>G
NM_001174070.3
p.E22*
c.64G>T
NM_001174070.3
p.E31insFs
c.91_92ins5
NM_001174070.3
p.D46Splc
c.136+7A>G
NM_001174070.3
p.P67L
c.200C>T
NM_001174070.3
p.F69C
c.206T>G
NM_001174070.3
p.G94C
c.280G>T
NM_001174070.3
p.E107*
c.319G>T
NM_001174070.3
p.H120insFs
c.359_360ins5
NM_001174070.3
p.R122W
c.364C>T
NM_001174070.3
p.R138L
c.413G>T