Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_001290268.2
p.R52*
c.154C>T
NM_001290268.2
p.V778I
c.2332G>A
NM_001290268.2
p.G15R
c.43G>A
NM_001290268.2
p.G18R
c.52G>A
NM_001290268.2
p.V22I
c.64G>A
NM_001290268.2
p.R25Q
c.74G>A
NM_001290268.2
p.S34N
c.101G>A
NM_001290268.2
p.S57Y
c.170C>A
NM_001290268.2
p.D144E
c.432T>G
NM_001290268.2
p.R157C
c.469C>T
NM_001290268.2
p.R177Q
c.530G>A
NM_001290268.2
p.E192D
c.576G>T