APOB

突变	蛋白
c.10580G>A	p.(Arg3527Gln)

LDLR

c.2292delA	p.(Ile764Metfs*2))
c.1444G>A	p.(Asp482Asn))
c.551G>A	p.(Cys184Tyr)
c.1845+11C>G	p.(=)
c.693C>A	p.(Cys231*)
c.933delA	p.(Glu312Serfs*58)
c.301G>A	p.(Glu101Lys)
c.313+1G>A	p.(=)
c.1706-1G>A	p.(=)
c.2029T>C	p.(Cys677Arg)
c.2054C>T	p.(Pro685Leu)
c.1447T>C	p.(Trp483Arg)
c.1432G>A	p.(Gly478Arg)
c.214delG	p.(Asp72Thrfs*134)
c.259T>G	p.(Trp87Gly)
c.1897C>T	p.(Arg633Cys)
c.681C>G	p.(Asp227Glu)
c.2061dup	p.(Asn688Glnfs*29)

PCSK9

c.1120G>T

p.(Asp374Tyr)

LDLR