Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_152775.4
p.D177D
c.531C>T
NM_152775.4
p.Q432E
c.1294C>G
NM_152775.4
p.Q669R
c.2006A>G
NM_152775.4
p.E4fs
c.10_11fs
NM_152775.4
p.E39Splc
c.115+409C>T
NM_152775.4
p.N89Y
c.265A>T
NM_152775.4
p.I92insFs
c.275_276insG
NM_152775.4
p.N105fs
c.313_314fs
NM_152775.4
p.R111C
c.331C>T
NM_152775.4
p.K145R
c.434A>G
NM_152775.4
p.S157G
c.469A>G
NM_152775.4
p.I185L
c.553A>T