Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_017807.4
p.R247Q
c.740G>A
NM_017807.4
p.R325Q
c.974G>A
NM_017807.4
p.C110R
c.328T>C
NM_017807.4
p.I53F
c.157A>T
NM_017807.4
p.S203L
c.608C>T
NM_017807.4
p.R280C
c.838C>T
NM_017807.4
p.I14F
c.40A>T
NM_017807.4
p.T45insFs
c.133dupA
NM_017807.4
p.I111T
c.332T>C
NM_017807.4
p.K198R
c.593A>G
NM_017807.4
p.R280H
c.839G>A
NM_017807.4
p.V107M
c.319G>A