Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_002486.5
p.V125M
c.373G>A
NM_002486.5
p.K330N
c.990G>C
NM_002486.5
p.K330N
c.990G>T
NM_002486.5
p.L34S
c.101T>C
NM_002486.5
p.E40fs
c.118_119fs
NM_002486.5
p.G55A
c.164G>C
NM_002486.5
p.L89I
c.265T>A
NM_002486.5
p.L131fs
c.391_392fs
NM_002486.5
p.P143L
c.428C>T
NM_002486.5
p.V155I
c.463G>A
NM_002486.5
p.E159D
c.477A>C
NM_002486.5
p.E159D
c.477A>T