Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_001001995.3
p.E6V
c.17A>T
NM_001001995.3
p.T7T
c.21T>A
NM_001001995.3
p.A9S
c.25G>T
NM_001001995.3
p.A25V
c.74C>T
NM_001001995.3
p.S39T
c.115T>A
NM_001001995.3
p.G61Splc
c.182-2A>G
NM_001001995.3
p.G87A
c.260G>C
NM_001001995.3
p.V103M
c.307G>A
NM_001001995.3
p.S115G
c.343A>G
NM_001001995.3
p.G169G
c.507C>T
NM_001001995.3
p.R170*
c.508C>T
NM_001001995.3
p.V177F
c.529G>T