Papers
RefSeq ID
Protein change
DNA change
1–12 of 285 variants
NM_000113.3
p.E303del1
c.907_909delCTC
NM_000113.3
p.D216H
c.646G>C
NM_000113.3
p.R288Q
c.863G>A
NM_000113.3
p.E171Q
c.511G>C
NM_000113.3
p.F205I
c.613T>A
NM_000113.3
p.W103*
c.308G>A
NM_000113.3
p.R288*
c.862C>T
NM_000113.3
p.A82A
c.246C>T
NM_000113.3
p.E121K
c.361G>A
NM_000113.3
p.R312_V313delFs
c.934_937del4
NM_000113.3
p.V322_Y328del0
c.966_983del18
NM_000113.3
p.T321M
c.962C>T