Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_001025295.3
p.S40L
c.119C>T
NM_001025295.3
p.S40W
c.119C>G
NM_001025295.3
p.N48S
c.143A>G
NM_001025295.3
p.G27A
c.80G>C
NM_001025295.3
p.M1T
c.2T>C
NM_001025295.3
p.A18D
c.53C>A
NM_001025295.3
p.P29Q
c.86C>A
NM_001025295.3
p.A56V
c.167C>T
NM_001025295.3
p.R64*
c.190C>T
NM_001025295.3
p.D117H
c.349G>C
NM_001025295.3
p.M1R
c.2T>G
NM_001025295.3
p.A4A
c.12G>A