Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_014373.3
p.R16C
c.46C>T
NM_014373.3
p.M55_E56delins
c.165_166delinsAA
NM_014373.3
p.T127P
c.379A>C
NM_014373.3
p.K136Q
c.406A>C
NM_014373.3
p.T142fs
c.424_425fs
NM_014373.3
p.V234V
c.702G>C
NM_014373.3
p.L257fs
c.769_770fs
NM_014373.3
p.L257_L258insFs
c.771_772insT
NM_014373.3
p.L258P
c.773T>C
NM_014373.3
p.L265P
c.794T>C
NM_014373.3
p.Y292D
c.874T>G
NM_014373.3
p.D309N
c.925G>A