Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_002035.4
p.Q293Q
c.879G>A
NM_002035.4
p.R154W
c.460C>T
NM_002035.4
p.V171A
c.512T>C
NM_002035.4
p.F138C
c.413T>G
NM_002035.4
p.G182S
c.544G>A
NM_002035.4
p.Y186F
c.557A>T
NM_002035.4
p.Q55_G56del1
c.164_166delCTT
NM_002035.4
p.T60fs
c.178_179fs
NM_002035.4
p.T60delFs
c.178delT
NM_002035.4
p.E75fs
c.223_224fs
NM_002035.4
p.Q85_V86Splc
c.256-2A>C
NM_002035.4
p.V87V
c.261G>A