Papers
RefSeq ID
Protein change
DNA change
1–12 of 169 variants
NM_173354.5
p.G15S
c.43G>A
NM_173354.5
p.Q633*
c.1897C>T
NM_173354.5
p.K56R
c.167A>G
NM_173354.5
p.T182A
c.544A>G
NM_173354.5
p.P287T
c.859C>A
NM_173354.5
p.E347*
c.1039G>T
NM_173354.5
p.R595Q
c.1784G>A
NM_173354.5
p.Q614*
c.1840C>T
NM_173354.5
p.P696L
c.2087C>T
NM_173354.5
p.C774G
c.2320T>G
NM_173354.5
p.V2I
c.4G>A
NM_173354.5
p.R47*
c.139C>T