Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_017840.4
p.R199Q
c.596G>A
NM_017840.4
p.A26insFs
c.76dupG
NM_017840.4
p.V62fs
c.184_185fs
NM_017840.4
p.R227Q
c.680G>A
NM_017840.4
p.A26fs
c.76_77fs
NM_017840.4
p.A26fs
c.76_77fs
NM_017840.4
p.S43F
c.128C>T
NM_017840.4
p.I53T
c.158T>C
NM_017840.4
p.R73W
c.217C>T
NM_017840.4
p.R106H
c.317G>A
NM_017840.4
p.V124I
c.370G>A
NM_017840.4
p.I147T
c.440T>C