Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_130465.5
p.S75*
c.224C>A
NM_130465.5
p.Q9*
c.25C>T
NM_130465.5
p.K46_G47Splc
c.138+2T>A
NM_130465.5
p.L58fs
c.172_173fs
NM_130465.5
p.G72G
c.216C>T
NM_130465.5
p.N130S
c.389A>G
NM_130465.5
p.N162S
c.485A>G
NM_130465.5
p.R179W
c.535C>T
NM_130465.5
p.A194V
c.581C>T
NM_130465.5
p.E213K
c.637G>A
NM_130465.5
p.V224M
c.670G>A
NM_130465.5
p.L231Q
c.692T>A