Papers
RefSeq ID
Protein change
DNA change
1–12 of 146 variants
NM_003764.4
p.E206K
c.616G>A
NM_003764.4
p.L58P
c.173T>C
NM_003764.4
p.Q268*
c.802C>T
NM_003764.4
p.V124fs
c.370_371fs
NM_003764.4
p.V267M
c.799G>A
NM_003764.4
p.R49Q
c.146G>A
NM_003764.4
p.E25*
c.73G>T
NM_003764.4
p.A123_R126Fs
c.369_376delinsTGGFs
NM_003764.4
p.A125_R126del1
c.374_376delCGC
NM_003764.4
p.F281C
c.842T>G
NM_003764.4
p.M1V
c.1A>G
NM_003764.4
p.N69delFs
c.207delC