Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_016143.5
p.D290N
c.868G>A
NM_016143.5
p.L193L
c.579G>A
NM_016143.5
p.F253S
c.758T>C
NM_016143.5
p.P294S
c.880C>T
NM_016143.5
p.S68Splc
c.203+1G>A
NM_016143.5
p.S68Splc
c.204-1G>C
NM_016143.5
p.R93Splc
c.278+1G>A
NM_016143.5
p.Q104E
c.310C>G
NM_016143.5
p.P149L
c.446C>T
NM_016143.5
p.D179_V180Splc
c.537+1G>A
NM_016143.5
p.G216Splc
c.647+5G>C
NM_016143.5
p.M1V
c.1A>G