Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
NM_001671.5
p.W158*
c.473G>A
NM_001671.5
p.W158*
c.474G>A
NM_001671.5
p.K89K
c.267G>A
NM_001671.5
p.V127L
c.379G>T
NM_001671.5
p.V127L
c.379G>C
NM_001671.5
p.L134M
c.400C>A
NM_001671.5
p.G226R
c.676G>C
NM_001671.5
p.G226R
c.676G>A
NM_001671.5
p.W244*
c.731G>A
NM_001671.5
p.W244*
c.732G>A
NM_001671.5
p.M1insFs
c.1dupA
NM_001671.5
p.D7N
c.19G>A