Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_173576.3
p.E179K
c.535G>A
NM_173576.3
p.L89F
c.265C>T
NM_173576.3
p.R28W
c.82C>T
NM_173576.3
p.G180V
c.539G>T
NM_173576.3
p.D35N
c.103G>A
NM_173576.3
p.D47N
c.139G>A
NM_173576.3
p.R93G
c.277C>G
NM_173576.3
p.Y97F
c.290A>T
NM_173576.3
p.Q116_V117Splc
c.349-2A>C
NM_173576.3
p.V117delFs
c.349delC
NM_173576.3
p.V117fs
c.349_350fs
NM_173576.3
p.T131A
c.391A>G