Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_001282011.2
p.L199F
c.597A>T
NM_001282011.2
p.L199F
c.597A>C
NM_001282011.2
p.V20I
c.58G>A
NM_001282011.2
p.G38C
c.112G>T
NM_001282011.2
p.C45*
c.135C>A
NM_001282011.2
p.G46R
c.136G>C
NM_001282011.2
p.G46R
c.136G>A
NM_001282011.2
p.V72I
c.214G>A
NM_001282011.2
p.L77F
c.229C>T
NM_001282011.2
p.Q108Q
c.324G>A
NM_001282011.2
p.A118V
c.353C>T
NM_001282011.2
p.V129F
c.385G>T