Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_001080396.3
p.D203fs
c.607_608fs
NM_001080396.3
p.R77Q
c.230G>A
NM_001080396.3
p.Q73_R77del0
c.218_229del12
NM_001080396.3
p.Q86del1
c.256_258delCTG
NM_001080396.3
p.L218_Y229del12
c.652_686del36
NM_001080396.3
p.I30T
c.89T>C
NM_001080396.3
p.Q73R
c.218A>G
NM_001080396.3
p.Q73_R77del5
c.217_230del15
NM_001080396.3
p.G143del1
c.427_428delGCC
NM_001080396.3
p.D203insFs
c.607_608insG
NM_001080396.3
p.L427_T429del3
c.1279_1286del9
NM_001080396.3
p.A5T
c.13G>A