Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001030060.3
p.R118H
c.353G>A
NM_001030060.3
p.S21F
c.62C>T
NM_001030060.3
p.A50P
c.148G>C
NM_001030060.3
p.E121D
c.363G>C
NM_001030060.3
p.E121D
c.363G>T
NM_001030060.3
p.S124N
c.371G>A
NM_001030060.3
p.K131N
c.393G>C
NM_001030060.3
p.K131N
c.393G>T
NM_001030060.3
p.D141E
c.423C>A
NM_001030060.3
p.D141E
c.423C>G
NM_001030060.3
p.I159T
c.476T>C
NM_001030060.3
p.E161K
c.481G>A