Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_024615.4
p.R287H
c.860G>A
NM_024615.4
p.L428F
c.1284G>C
NM_024615.4
p.L428F
c.1284G>T
NM_024615.4
p.F578L
c.1732T>C
NM_024615.4
p.F578L
c.1734C>A
NM_024615.4
p.F578L
c.1734C>G
NM_024615.4
p.S777A
c.2329T>G
NM_024615.4
p.G2insFs
c.5_6ins7
NM_024615.4
p.Q11_K12insFs
c.33_34insT
NM_024615.4
p.A23T
c.67G>A
NM_024615.4
p.D31Splc
c.91+17C>T
NM_024615.4
p.R33_Y34insT
c.97_101ins3