Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
NM_005998.5
p.I195V
c.583A>G
NM_005998.5
p.N157D
c.469A>G
NM_005998.5
p.M305T
c.914T>C
NM_005998.5
p.A421S
c.1261G>T
NM_005998.5
p.N13S
c.38A>G
NM_005998.5
p.F264V
c.790T>G
NM_005998.5
p.I267T
c.800T>C
NM_005998.5
p.L391F
c.1171C>T
NM_005998.5
p.Q396fs
c.1186_1187fs
NM_005998.5
p.M429I
c.1287G>A
NM_005998.5
p.P436S
c.1306C>T
NM_005998.5
p.R518*
c.1552C>T