Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_031296.3
p.K46Q
c.136A>C
NM_031296.3
p.N148K
c.444T>A
NM_031296.3
p.Q92L
c.275A>T
NM_031296.3
p.N148K
c.444T>G
NM_031296.3
p.T177M
c.530C>T
NM_031296.3
p.Q85*
c.253C>T
NM_031296.3
p.F58fs
c.172_173fs
NM_031296.3
p.F58delFs
c.174delC
NM_031296.3
p.R71*
c.211C>T
NM_031296.3
p.R94*
c.280C>T
NM_031296.3
p.F122S
c.365T>C
NM_031296.3
p.Q134*
c.400C>T