Papers
RefSeq ID
Protein change
DNA change
1–12 of 95 variants
NM_015191.3
p.S587A
c.1759T>G
NM_015191.3
p.T175A
c.523A>G
NM_015191.3
p.T484A
c.1450A>G
NM_015191.3
p.T458I
c.1373C>T
NM_015191.3
p.D5A
c.14A>C
NM_015191.3
p.P7T
c.19C>A
NM_015191.3
p.R16L
c.47G>T
NM_015191.3
p.G24S
c.70G>A
NM_015191.3
p.E45_V46Splc
c.136-4415A>G
NM_015191.3
p.A47E
c.140C>A
NM_015191.3
p.K53Q
c.157A>C
NM_015191.3
p.K53R
c.158A>G