Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_017909.4
p.N238S
c.713A>G
NM_017909.4
p.*450S
c.1349G>C
NM_017909.4
p.R417Q
c.1250G>A
NM_017909.4
p.E168_D169Splc
c.504+1G>A
NM_017909.4
p.D205Y
c.613G>T
NM_017909.4
p.Q189*
c.565C>T
NM_017909.4
p.E439_V440Splc
c.1317+1G>T
NM_017909.4
p.P162delFs
c.485delG
NM_017909.4
p.T178M
c.533C>T
NM_017909.4
p.G195R
c.583G>C
NM_017909.4
p.G195R
c.583G>A
NM_017909.4
p.Y273S
c.818A>C