Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_001756.4
p.D389N
c.1165G>A
NM_001756.4
p.L115H
c.344T>A
NM_001756.4
p.E102G
c.305A>G
NM_001756.4
p.G259V
c.776G>T
NM_001756.4
p.W11*
c.32G>A
NM_001756.4
p.W11*
c.33G>A
NM_001756.4
p.S246A
c.736T>G
NM_001756.4
p.A73V
c.218C>T
NM_001756.4
p.L5delFs
c.13delG
NM_001756.4
p.E124G
c.371A>G
NM_001756.4
p.V55delFs
c.164_165delCA
NM_001756.4
p.A164_T165del2
c.490_494del6