Papers
RefSeq ID
Protein change
DNA change
1–12 of 185 variants
NM_145038.5
p.Q118*
c.352C>T
NM_145038.5
p.W399R
c.1195T>A
NM_145038.5
p.W399R
c.1195T>C
NM_145038.5
p.W244*
c.731G>A
NM_145038.5
p.K686*
c.2056A>T
NM_145038.5
p.R80*
c.238C>T
NM_145038.5
p.W244*
c.732G>A
NM_145038.5
p.W432*
c.1296G>A
NM_145038.5
p.R554*
c.1660C>T
NM_145038.5
p.W432*
c.1295G>A
NM_145038.5
p.S533_A534Splc
c.1599+1G>A
NM_145038.5
p.M1insFs
c.2dupT