Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_001002919.3
p.G34R
c.100G>C
NM_001002919.3
p.G34R
c.100G>A
NM_001002919.3
p.S53L
c.158C>T
NM_001002919.3
p.C66Y
c.197G>A
NM_001002919.3
p.R83*
c.247C>T
NM_001002919.3
p.V84M
c.250G>A
NM_001002919.3
p.P88L
c.263C>T
NM_001002919.3
p.K94E
c.280A>G
NM_001002919.3
p.K96E
c.286A>G
NM_001002919.3
p.K99E
c.295A>G
NM_001002919.3
p.G103Splc
c.307+17T>A
NM_001002919.3
p.L118F
c.352C>T