Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_001003443.3
p.M51T
c.152T>C
NM_001003443.3
p.A237V
c.710C>T
NM_001003443.3
p.F254L
c.760T>C
NM_001003443.3
p.F254L
c.762C>A
NM_001003443.3
p.F254L
c.762C>G
NM_001003443.3
p.T2R
c.5C>G
NM_001003443.3
p.H4N
c.10C>A
NM_001003443.3
p.H4Y
c.10C>T
NM_001003443.3
p.D7insFs
c.20dupA
NM_001003443.3
p.V22F
c.64G>T
NM_001003443.3
p.Q28H
c.84G>C
NM_001003443.3
p.Q28H
c.84G>T