Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001195279.2
p.L10*
c.29T>G
NM_001195279.2
p.L10*
c.29T>A
NM_001195279.2
p.Q57*
c.169C>T
NM_001195279.2
p.V83A
c.248T>C
NM_001195279.2
p.G90Splc
c.268+5G>A
NM_001195279.2
p.R102Q
c.305G>A
NM_001195279.2
p.E109E
c.327G>A
NM_001195279.2
p.N119D
c.355A>G
NM_001195279.2
p.T136N
c.407C>A
NM_001195279.2
p.R144Splc
c.432-1G>A
NM_001195279.2
p.A166V
c.497C>T
NM_001195279.2
p.R197Q
c.590G>A