Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_032345.3
p.E66Q
c.196G>C
NM_032345.3
p.A4V
c.11C>T
NM_032345.3
p.G13Splc
c.37+626C>T
NM_032345.3
p.A17V
c.50C>T
NM_032345.3
p.R31M
c.92G>T
NM_032345.3
p.A67V
c.200C>T
NM_032345.3
p.R75K
c.224G>A
NM_032345.3
p.Q100*
c.298C>T
NM_032345.3
p.L109M
c.325T>A
NM_032345.3
p.S110R
c.330C>A
NM_032345.3
p.V116M
c.346G>A
NM_032345.3
p.E120K
c.358G>A