Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_001033088.3
p.V27delFs
c.79delG
NM_001033088.3
p.F22V
c.64T>G
NM_001033088.3
p.R25delFs
c.73delC
NM_001033088.3
p.R25fs
c.73_74fs
NM_001033088.3
p.R35G
c.103C>G
NM_001033088.3
p.P79P
c.237G>A
NM_001033088.3
p.R92Splc
c.276-4G>C
NM_001033088.3
p.E97Q
c.289G>C
NM_001033088.3
p.G110S
c.328G>A
NM_001033088.3
p.K133M
c.398A>T
NM_001033088.3
p.L134M
c.400C>A
NM_001033088.3
p.G145E
c.434G>A