Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_001164399.2
p.S689N
c.2066G>A
NM_001164399.2
p.W6*
c.17G>A
NM_001164399.2
p.W6*
c.18G>A
NM_001164399.2
p.T24T
c.72T>C
NM_001164399.2
p.P26S
c.76C>T
NM_001164399.2
p.L28Q
c.83T>A
NM_001164399.2
p.A45delFs
c.133delC
NM_001164399.2
p.L71insFs
c.211dupC
NM_001164399.2
p.L117M
c.349T>A
NM_001164399.2
p.R126I
c.377G>T
NM_001164399.2
p.G164R
c.490G>A
NM_001164399.2
p.G164R
c.490G>C