Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_001080460.3
p.E461K
c.1381G>A
NM_001080460.3
p.A513A
c.1539A>G
NM_001080460.3
p.S7L
c.20C>T
NM_001080460.3
p.H22Q
c.66C>A
NM_001080460.3
p.H22Q
c.66C>G
NM_001080460.3
p.P64S
c.190C>T
NM_001080460.3
p.R84K
c.251G>A
NM_001080460.3
p.S94N
c.281G>A
NM_001080460.3
p.E97G
c.290A>G
NM_001080460.3
p.H118H
c.354C>T
NM_001080460.3
p.I133F
c.397A>T
NM_001080460.3
p.H142Y
c.424C>T