Papers
RefSeq ID
Protein change
DNA change
1–12 of 144 variants
NM_001004339.3
p.E76D
c.228G>T
NM_001004339.3
p.E76D
c.228G>C
NM_001004339.3
p.R124H
c.371G>A
NM_001004339.3
p.P205S
c.613C>T
NM_001004339.3
p.L207P
c.620T>C
NM_001004339.3
p.L475P
c.1424T>C
NM_001004339.3
p.R184H
c.551G>A
NM_001004339.3
p.N606S
c.1817A>G
NM_001004339.3
p.L5*
c.14T>A
NM_001004339.3
p.G8S
c.22G>A
NM_001004339.3
p.N13I
c.38A>T
NM_001004339.3
p.P16A
c.46C>G