Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_138571.5
p.G36A
c.107G>C
NM_138571.5
p.L12L
c.36G>A
NM_138571.5
p.S27F
c.80C>T
NM_138571.5
p.K42*
c.124A>T
NM_138571.5
p.C73*
c.219C>A
NM_138571.5
p.I77insFs
c.230dupT
NM_138571.5
p.K78fs
c.232_233fs
NM_138571.5
p.K78T
c.233A>C
NM_138571.5
p.V88M
c.262G>A
NM_138571.5
p.R97*
c.289A>T
NM_138571.5
p.F157F
c.471C>T
NM_138571.5
p.K160N
c.480G>C