Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_001104647.3
p.R95Splc
c.284+3A>T
NM_001104647.3
p.G63R
c.187G>A
NM_001104647.3
p.G63R
c.187G>C
NM_001104647.3
p.L268insFs
c.803dupT
NM_001104647.3
p.Q3K
c.7C>A
NM_001104647.3
p.T6delFs
c.16delA
NM_001104647.3
p.L10delFs
c.29delT
NM_001104647.3
p.G16G
c.48T>G
NM_001104647.3
p.V19A
c.56T>C
NM_001104647.3
p.V30L
c.88G>C
NM_001104647.3
p.V30L
c.88G>T
NM_001104647.3
p.L48L
c.142C>T