Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_001443.3
p.T94A
c.280A>G
NM_001443.3
p.E86D
c.258A>C
NM_001443.3
p.A54T
c.160G>A
NM_001443.3
p.T114A
c.340A>G
NM_001443.3
p.K6M
c.17A>T
NM_001443.3
p.G32R
c.94G>C
NM_001443.3
p.G32R
c.94G>A
NM_001443.3
p.R126K
c.377G>A
NM_001443.3
p.N14N
c.42C>T
NM_001443.3
p.A17A
c.51C>T
NM_001443.3
p.G23Splc
c.68-2A>T
NM_001443.3
p.G23Splc
c.68-1G>T