Papers
RefSeq ID
Protein change
DNA change
1–12 of 182 variants
NM_001135924.3
p.R385*
c.1153C>T
NM_001135924.3
p.S142F
c.425C>T
NM_001135924.3
p.F292I
c.874T>A
NM_001135924.3
p.E869K
c.2605G>A
NM_001135924.3
p.C890F
c.2669G>T
NM_001135924.3
p.C1050Y
c.3149G>A
NM_001135924.3
p.Q1256K
c.3766C>A
NM_001135924.3
p.N1272insFs
c.3816dupT
NM_001135924.3
p.A1310V
c.3929C>T
NM_001135924.3
p.F1485C
c.4454T>G
NM_001135924.3
p.P25S
c.73C>T
NM_001135924.3
p.R39H
c.116G>A