Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_001031712.3
p.I306V
c.916A>G
NM_001031712.3
p.M14insFs
c.41dupT
NM_001031712.3
p.L31*
c.92T>A
NM_001031712.3
p.L32F
c.94C>T
NM_001031712.3
p.I51I
c.153T>C
NM_001031712.3
p.A60S
c.178G>T
NM_001031712.3
p.L63F
c.189G>C
NM_001031712.3
p.L63F
c.189G>T
NM_001031712.3
p.K71N
c.213G>T
NM_001031712.3
p.Y93F
c.278A>T
NM_001031712.3
p.R127*
c.379C>T
NM_001031712.3
p.I128V
c.382A>G