Papers
RefSeq ID
Protein change
DNA change
1–12 of 448 variants
NM_001080517.3
p.R768*
c.2302C>T
NM_001080517.3
p.K782_R783Splc
c.2347-7A>G
NM_001080517.3
p.R1001*
c.3001C>T
NM_001080517.3
p.S1286fs
c.3856_3857fs
NM_001080517.3
p.R308*
c.922C>T
NM_001080517.3
p.S973*
c.2918C>G
NM_001080517.3
p.N1283insFs
c.3848_3849insC
NM_001080517.3
p.K399*
c.1195A>T
NM_001080517.3
p.R445*
c.1333C>T
NM_001080517.3
p.M738delFs
c.2212_2213delAT
NM_001080517.3
p.S1286delFs
c.3856delT
NM_001080517.3
p.G594_D595Splc
c.1783-2A>T