Papers
RefSeq ID
Protein change
DNA change
1–12 of 672 variants
NM_000046.5
p.R152W
c.454C>T
NM_000046.5
p.V358M
c.1072G>A
NM_000046.5
p.Y210C
c.629A>G
NM_000046.5
p.S384N
c.1151G>A
NM_000046.5
p.R315Q
c.944G>A
NM_000046.5
p.L321P
c.962T>C
NM_000046.5
p.V376M
c.1126G>A
NM_000046.5
p.R315*
c.943C>T
NM_000046.5
p.R160*
c.478C>T
NM_000046.5
p.R327*
c.979C>T
NM_000046.5
p.G144R
c.430G>C
NM_000046.5
p.G144R
c.430G>A