Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_001039397.3
p.E56A
c.167A>C
NM_001039397.3
p.Q25R
c.74A>G
NM_001039397.3
p.R59H
c.176G>A
NM_001039397.3
p.V60I
c.178G>A
NM_001039397.3
p.R74C
c.220C>T
NM_001039397.3
p.K80T
c.239A>C
NM_001039397.3
p.I120S
c.359T>G
NM_001039397.3
p.S138F
c.413C>T
NM_001039397.3
p.Q146*
c.436C>T
NM_001039397.3
p.H156Y
c.466C>T
NM_001039397.3
p.G187R
c.559G>C
NM_001039397.3
p.G187R
c.559G>A