Papers
RefSeq ID
Protein change
DNA change
1–12 of 414 variants
NM_006517.5
p.A150V
c.449C>T
NM_006517.5
p.V235M
c.703G>A
NM_006517.5
p.G221R
c.661G>C
NM_006517.5
p.H75L
c.224A>T
NM_006517.5
p.G221S
c.661G>A
NM_006517.5
p.R197H
c.590G>A
NM_006517.5
p.Q306*
c.916C>T
NM_006517.5
p.I404delFs
c.1212delT
NM_006517.5
p.L494P
c.1481T>C
NM_006517.5
p.R371C
c.1111C>T
NM_006517.5
p.S33P
c.97T>C
NM_006517.5
p.R171*
c.511C>T