Papers
RefSeq ID
Protein change
DNA change
1–12 of 431 variants
NM_001014443.3
p.S74*
c.221C>A
NM_001014443.3
p.G321D
c.962G>A
NM_001014443.3
p.R13Q
c.38G>A
NM_001014443.3
p.P91S
c.271C>T
NM_001014443.3
p.L144H
c.431T>A
NM_001014443.3
p.C221S
c.661T>A
NM_001014443.3
p.C221S
c.662G>C
NM_001014443.3
p.P336T
c.1006C>A
NM_001014443.3
p.R8C
c.22C>T
NM_001014443.3
p.T12A
c.34A>G
NM_001014443.3
p.R34H
c.101G>A
NM_001014443.3
p.R55Q
c.164G>A