Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_014864.4
p.T59fs
c.175_176fs
NM_014864.4
p.N347fs
c.1039_1040fs
NM_014864.4
p.V166F
c.496G>T
NM_014864.4
p.R290H
c.869G>A
NM_014864.4
p.H58_L60delFs
c.174_178del5
NM_014864.4
p.T59A
c.175A>G
NM_014864.4
p.R129*
c.385C>T
NM_014864.4
p.D309A
c.926A>C
NM_014864.4
p.K346delFs
c.1038delG
NM_014864.4
p.R6*
c.16C>T
NM_014864.4
p.D29V
c.86A>T
NM_014864.4
p.M45I
c.135G>A