Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_003692.5
p.P255S
c.763C>T
NM_003692.5
p.R353Splc
c.1059-2A>G
NM_003692.5
p.P9P
c.27G>T
NM_003692.5
p.A15V
c.44C>T
NM_003692.5
p.F20V
c.58T>G
NM_003692.5
p.P44A
c.130C>G
NM_003692.5
p.V74I
c.220G>A
NM_003692.5
p.C82Y
c.245G>A
NM_003692.5
p.H104Y
c.310C>T
NM_003692.5
p.P109S
c.325C>T
NM_003692.5
p.E134V
c.401A>T
NM_003692.5
p.E155Splc
c.464-28T>C