Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_173535.3
p.R351H
c.1052G>A
NM_173535.3
p.R101Q
c.302G>A
NM_173535.3
p.V74I
c.220G>A
NM_173535.3
p.R444H
c.1331G>A
NM_173535.3
p.K564R
c.1691A>G
NM_173535.3
p.P42L
c.125C>T
NM_173535.3
p.L516P
c.1547T>C
NM_173535.3
p.G558E
c.1673G>A
NM_173535.3
p.D2E
c.6C>G
NM_173535.3
p.D2E
c.6C>A
NM_173535.3
p.P19S
c.55C>T
NM_173535.3
p.A40G
c.119C>G