Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_003658.5
p.S64P
c.190T>C
NM_003658.5
p.C3C
c.9C>T
NM_003658.5
p.Y38D
c.112T>G
NM_003658.5
p.L44insFs
c.130_131insC
NM_003658.5
p.G63Splc
c.188-73G>A
NM_003658.5
p.R68L
c.203G>T
NM_003658.5
p.Y70N
c.208T>A
NM_003658.5
p.L73L
c.219C>T
NM_003658.5
p.R78C
c.232C>T
NM_003658.5
p.P88A
c.262C>G
NM_003658.5
p.P91L
c.272C>T
NM_003658.5
p.S119S
c.357C>T