Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_020190.5
p.S16L
c.47C>T
NM_020190.5
p.A195S
c.583G>T
NM_020190.5
p.R249*
c.745C>T
NM_020190.5
p.E38K
c.112G>A
NM_020190.5
p.E38_E39Splc
c.114+8A>T
NM_020190.5
p.E38_E39Splc
c.115-131A>G
NM_020190.5
p.R40W
c.118C>T
NM_020190.5
p.E67*
c.199G>T
NM_020190.5
p.K71M
c.212A>T
NM_020190.5
p.R73W
c.217C>T
NM_020190.5
p.T82I
c.245C>T
NM_020190.5
p.G85E
c.254G>A