Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_025015.3
p.E365G
c.1094A>G
NM_025015.3
p.A526T
c.1576G>A
NM_025015.3
p.P552P
c.1656T>G
NM_025015.3
p.S577C
c.1730C>G
NM_025015.3
p.T629P
c.1885A>C
NM_025015.3
p.E14Splc
c.40+7565C>T
NM_025015.3
p.T18I
c.53C>T
NM_025015.3
p.S19F
c.56C>T
NM_025015.3
p.T34M
c.101C>T
NM_025015.3
p.V42V
c.126G>T
NM_025015.3
p.D44H
c.130G>C
NM_025015.3
p.D44N
c.130G>A