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TM10-S2-2 Marianne Stef.pdf

TM10-S2-2 Marianne Stef.pdf

Mutation composition of

Mutation composition of LIPOCHIPGene Mutation NumberLDLR 242APOB 3PCSK9 6Total 251 All types of mutations canbe detected:- Small insdel- DNA substitutions- CNC Mutations’pathogenicity verifiedby literature e orvalidation studiesD151N c.514G>A p.Asp151Asn ES NL NOC371X c.1176C>A p.Cys371X ES NL NOW556R c.1729T>C p.Trp556Arg ES NL NOR723Q c.2231G>A p.Arg723Gln ES NL NOT740M c.2282C>T p.Thr740Met ES NL NO2393del9bp 3_2401delTCCTCG p.Lys778_phe780del ES NL NO1359-1G>A c.1359-1G>A N/A ES NL NOS156L c.530C>T p.Ser156Leu ES NL NO UKC152X c.519C>A p.Cys152X ES NL UKP587L c.1823C>T p.Pro587Leu ES NL UKD200G c.662A>G p.Asp200Gly ES NL UK IT NO

Mutation composition of LIPOCHIPGene Mutation NumberLDLR 242APOB 3PCSK9 6Total 251 All types of mutations canbe detected:- Small insdel- DNA substitutions- CNC Mutations’pathogenicity verifiedby literature e orvalidation studies100,0090,0080,0070,00Pointti CNC % Total % 60,0000mutations %Spain 83.90 7.65 91.55Netherlands 78.24 5.17 83.4140,00Italy 70.24 6.48 76.7230,00Norway 61.53 2.82 64.35 20,00United Kingdom 47.62 4.77 52.3910,0050,000,00Spain Netherlands Italy Norway UnitedKingdom

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