Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_201453.4
p.D132Y
c.394G>T
NM_201453.4
p.E288D
c.864A>T
NM_201453.4
p.K259insFs
c.777dupA
NM_201453.4
p.Q257fs
c.769_770fs
NM_201453.4
p.E288D
c.864A>C
NM_201453.4
p.N115S
c.344A>G
NM_201453.4
p.I133M
c.399A>G
NM_201453.4
p.G144S
c.430G>A
NM_201453.4
p.G144Splc
c.430+2T>C
NM_201453.4
p.G144Splc
c.431-1G>C
NM_201453.4
p.I200V
c.598A>G
NM_201453.4
p.L207F
c.621G>C