Papers
RefSeq ID
Protein change
DNA change
1–12 of 1172 variants
NM_000123.4
p.D1104H
c.3310G>C
NM_000123.4
p.C529S
c.1585T>A
NM_000123.4
p.C529S
c.1586G>C
NM_000123.4
p.A792V
c.2375C>T
NM_000123.4
p.E791A
c.2372A>C
NM_000123.4
p.M254V
c.760A>G
NM_000123.4
p.A874T
c.2620G>A
NM_000123.4
p.G1053R
c.3157G>C
NM_000123.4
p.G805R
c.2413G>A
NM_000123.4
p.G805R
c.2413G>C
NM_000123.4
p.L858P
c.2573T>C
NM_000123.4
p.R263*
c.787C>T