Papers
RefSeq ID
Protein change
DNA change
1–12 of 83 variants
NM_022459.5
p.Y100*
c.300T>G
NM_022459.5
p.Y100*
c.300T>A
NM_022459.5
p.R94Q
c.281G>A
NM_022459.5
p.N149S
c.446A>G
NM_022459.5
p.P522L
c.1565C>T
NM_022459.5
p.G635_K636delFs
c.1903_1907del5
NM_022459.5
p.M1T
c.2T>C
NM_022459.5
p.P9S
c.25C>T
NM_022459.5
p.A18T
c.52G>A
NM_022459.5
p.M23_A24Splc
c.70-8337G>A
NM_022459.5
p.R34C
c.100C>T
NM_022459.5
p.R34L
c.101G>T