Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001109619.4
p.R18*
c.52C>T
NM_001109619.4
p.R63R
c.189A>G
NM_001109619.4
p.W7*
c.20G>A
NM_001109619.4
p.W7*
c.21G>A
NM_001109619.4
p.I20M
c.60C>G
NM_001109619.4
p.V40L
c.118G>C
NM_001109619.4
p.V40L
c.118G>T
NM_001109619.4
p.Y49D
c.145T>G
NM_001109619.4
p.Y49Y
c.147C>T
NM_001109619.4
p.M62I
c.186G>A
NM_001109619.4
p.M62I
c.186G>C
NM_001109619.4
p.M62I
c.186G>T