Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
NM_003468.4
p.A219fs
c.655_656fs
NM_003468.4
p.A219Fs
c.656delinsAGFs
NM_003468.4
p.Y46*
c.138C>G
NM_003468.4
p.Y46*
c.138C>A
NM_003468.4
p.P216L
c.647C>T
NM_003468.4
p.P267L
c.800C>T
NM_003468.4
p.H361ins1
c.1081_1082insGAA
NM_003468.4
p.L17L
c.51A>G
NM_003468.4
p.S117*
c.350C>A
NM_003468.4
p.R130S
c.388C>A
NM_003468.4
p.E154V
c.461A>T
NM_003468.4
p.R265L
c.794G>T