Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_000669.5
p.I350V
c.1048A>G
NM_000669.5
p.R272Q
c.815G>A
NM_000669.5
p.R48H
c.143G>A
NM_000669.5
p.G78*
c.232G>T
NM_000669.5
p.P166S
c.496C>T
NM_000669.5
p.K19R
c.56A>G
NM_000669.5
p.N349D
c.1045A>G
NM_000669.5
p.I350F
c.1048A>T
NM_000669.5
p.R364H
c.1091G>A
NM_000669.5
p.R370C
c.1108C>T
NM_000669.5
p.G5E
c.14G>A
NM_000669.5
p.C282Y
c.845G>A