Papers
RefSeq ID
Protein change
DNA change
1–12 of 174 variants
NM_002437.5
p.R50Q
c.149G>A
NM_002437.5
p.P98L
c.293C>T
NM_002437.5
p.R50W
c.148C>T
NM_002437.5
p.L151insFs
c.451dupC
NM_002437.5
p.R41Q
c.122G>A
NM_002437.5
p.Q93P
c.278A>C
NM_002437.5
p.S170F
c.509C>T
NM_002437.5
p.G94R
c.280G>C
NM_002437.5
p.G24Splc
c.70+5G>A
NM_002437.5
p.G94R
c.280G>A
NM_002437.5
p.R41W
c.121C>T
NM_002437.5
p.P64R
c.191C>G