Papers
RefSeq ID
Protein change
DNA change
1–12 of 214 variants
NM_006924.5
p.G127Splc
c.379+8T>C
NM_006924.5
p.V160M
c.478G>A
NM_006924.5
p.R214K
c.641G>A
NM_006924.5
p.R229K
c.686G>A
NM_006924.5
p.S2L
c.5C>T
NM_006924.5
p.C16S
c.46T>A
NM_006924.5
p.C16S
c.47G>C
NM_006924.5
p.V20M
c.58G>A
NM_006924.5
p.P24L
c.71C>T
NM_006924.5
p.G40V
c.119G>T
NM_006924.5
p.D44N
c.130G>A
NM_006924.5
p.P55L
c.164C>T