Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_003712.4
p.A180V
c.539C>T
NM_003712.4
p.R85C
c.253C>T
NM_003712.4
p.M1V
c.1A>G
NM_003712.4
p.M1K
c.2T>A
NM_003712.4
p.R34Q
c.101G>A
NM_003712.4
p.G55E
c.164G>A
NM_003712.4
p.S86_A93del0
c.258_278del21
NM_003712.4
p.D134Y
c.400G>T
NM_003712.4
p.R137Q
c.410G>A
NM_003712.4
p.S170F
c.509C>T
NM_003712.4
p.R193Q
c.578G>A
NM_003712.4
p.R214R
c.642C>T