Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_033309.3
p.A244T
c.730G>A
NM_033309.3
p.T35delFs
c.104delG
NM_033309.3
p.R40Q
c.119G>A
NM_033309.3
p.G80delFs
c.239_240delTC
NM_033309.3
p.D109Y
c.325G>T
NM_033309.3
p.L118Q
c.353T>A
NM_033309.3
p.R131R
c.393G>A
NM_033309.3
p.V135V
c.405G>A
NM_033309.3
p.A141V
c.422C>T
NM_033309.3
p.R152C
c.454C>T
NM_033309.3
p.H177N
c.529C>A
NM_033309.3
p.A190V
c.569C>T