Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
NM_001128159.3
p.K519Splc
c.1556+5G>A
NM_001128159.3
p.Q695R
c.2084A>G
NM_001128159.3
p.I114V
c.340A>G
NM_001128159.3
p.H137H
c.411C>T
NM_001128159.3
p.P231L
c.692C>T
NM_001128159.3
p.L328I
c.982C>A
NM_001128159.3
p.Y508S
c.1523A>C
NM_001128159.3
p.Y508delins
c.1523_1524delinsCT
NM_001128159.3
p.R584*
c.1750C>T
NM_001128159.3
p.Q624R
c.1871A>G
NM_001128159.3
p.M1I
c.3G>A
NM_001128159.3
p.M2R
c.5T>G