Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_152281.3
p.A220P
c.658G>C
NM_152281.3
p.E123*
c.367G>T
NM_152281.3
p.G102insFs
c.306dupC
NM_152281.3
p.E46*
c.136G>T
NM_152281.3
p.Q76insFs
c.227_228insA
NM_152281.3
p.S175F
c.524C>T
NM_152281.3
p.Q247*
c.739C>T
NM_152281.3
p.R262*
c.784C>T
NM_152281.3
p.Q64*
c.190C>T
NM_152281.3
p.R226_A227insA
c.676_680ins3
NM_152281.3
p.G7G
c.21A>C
NM_152281.3
p.F8L
c.22T>C