Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
NM_015296.3
p.Q240_N241Splc
c.720+43A>G
NM_001366683.2
p.A535V
c.1604C>T
NM_015296.3
p.Q754H
c.2262A>T
NM_015296.3
p.Q754H
c.2262A>C
NM_015296.3
p.A11V
c.32C>T
NM_015296.3
p.Q31insFs
c.91_92insT
NM_001366683.2
p.A3D
c.8C>A
NM_001366683.2
p.L74F
c.220C>T
NM_015296.3
p.A105A
c.315A>G
NM_001366683.2
p.A247G
c.740C>G
NM_015296.3
p.E327E
c.981A>G
NM_015296.3
p.L338I
c.1012C>A