Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
NM_001162529.3
p.D1242G
c.3725A>G
NM_001162529.3
p.K997fs
c.2989_2990fs
NM_001162529.3
p.R193I
c.578G>T
NM_001162529.3
p.K997delFs
c.2989delA
NM_001162529.3
p.E3D
c.9A>C
NM_001162529.3
p.E3D
c.9A>T
NM_001162529.3
p.R31C
c.91C>T
NM_001162529.3
p.K99_I100Splc
c.298-3C>T
NM_001162529.3
p.L115P
c.344T>C
NM_001162529.3
p.Y158*
c.474C>A
NM_001162529.3
p.Y158*
c.474C>G
NM_001162529.3
p.H176P
c.527A>C