Papers
RefSeq ID
Protein change
DNA change
1–12 of 712 variants
NM_000261.2
p.Q368*
c.1102C>T
NM_000261.2
p.P370L
c.1109C>T
NM_000261.2
p.Y437H
c.1309T>C
NM_000261.2
p.T377M
c.1130C>T
NM_000261.2
p.R76K
c.227G>A
NM_000261.2
p.G367R
c.1099G>A
NM_000261.2
p.G367R
c.1099G>C
NM_000261.2
p.R46*
c.136C>T
NM_000261.2
p.K423E
c.1267A>G
NM_000261.2
p.Q48H
c.144G>T
NM_000261.2
p.Q48H
c.144G>C
NM_000261.2
p.I477N
c.1430T>A