PMID: 26892515

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: clinical and experimental
M Sharifi, M Walus-Miarka, B Idzior-WaluĊ›, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
2016-03

45 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11231090-C-T LDLR c.2032C>T p.Gln678* Nonsense 14/18 -
19-11233886-C-T LDLR c.2177C>T p.Thr726Ile Missense 15/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
19-11230881-T-A LDLR c.1959T>A p.Val653Val Synonymous 13/18 -
19-11230881-T-G LDLR c.1959T>G p.Val653Val Synonymous 13/18 -
19-11223954-G-C LDLR c.1187G>C p.Gly396Ala Missense 9/18 -
19-11224419-G-A LDLR c.1567G>A p.Val523Met Missense 10/18 -
19-11216112-C-T LDLR c.530C>T p.Ser177Leu Missense 4/18 -
19-11227604-G-A LDLR c.1775G>A p.Gly592Glu Missense 12/18 -
19-11216236-GTGG-G LDLR c.654_656delTGG p.Gly219delGly InFrameDeletion 4/18 -
19-11227565-A-G LDLR c.1736A>G p.Asp579Gly Missense 12/18 -
19-11227663-G-T LDLR c.1834G>T p.Ala612Ser Missense 12/18 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
19-11224397-C-T LDLR c.1545C>T p.Asn515Asn Synonymous 10/18 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
19-11224301-G-T LDLR c.1449G>T p.Trp483Cys Missense 10/18 -
19-11227549-C-T LDLR c.1720C>T p.Arg574Cys Missense 12/18 -
19-11216083-C-A LDLR c.501C>A p.Cys167* Nonsense 4/18 -
19-11231084-G-C LDLR c.2026G>C p.Gly676Arg Missense 14/18 -
19-11230784-C-G LDLR c.1862C>G p.Thr621Arg Missense 13/18 -
19-11240345-C-A LDLR c.2546C>A p.Ser849* Nonsense 17/18 -
19-11217310-G-A LDLR c.764G>A p.Cys255Tyr Missense 5/18 -
19-11221435-C-T LDLR c.1048C>T p.Arg350* Nonsense 7/18 -
19-11213340-GTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATT-G LDLR c.191_313del123 - Unclassified 3/18 -
19-11221373-G-T LDLR c.986G>T p.Cys329Phe Missense 7/18 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
19-11222214-GA-G LDLR c.1085delA p.Asp362Alafs*8 Frameshift 8/18 -
19-11217344-T-A LDLR c.798T>A p.Asp266Glu Missense 5/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11216263-C-G LDLR c.681C>G p.Asp227Glu Missense 4/18 -
19-11216263-C-A LDLR c.681C>A p.Asp227Glu Missense 4/18 -
19-11230842-C-T LDLR c.1920C>T p.Asn640Asn Synonymous 13/18 -
19-11215962-T-A LDLR c.380T>A p.Val127Asp Missense 4/18 -
19-11216248-C-A LDLR c.666C>A p.Cys222* Nonsense 4/18 -
19-11211016-C-T LDLR c.185C>T p.Thr62Met Missense 2/18 -
19-11233940-G-A LDLR c.2231G>A p.Arg744Gln Missense 15/18 -
19-11224301-G-C LDLR c.1449G>C p.Trp483Cys Missense 10/18 -
19-11231154-CC-C LDLR c.2096delC p.Pro699Argfs*10 Frameshift 14/18 -
19-11210931-T-G LDLR c.100T>G p.Cys34Gly Missense 2/18 -
19-11231083-C-T LDLR c.2025C>T p.Gly675Gly Synonymous 14/18 -
19-11231154-C-T LDLR c.2096C>T p.Pro699Leu Missense 14/18 -
19-11231083-C-G LDLR c.2025C>G p.Gly675Gly Synonymous 14/18 -
19-11231083-C-A LDLR c.2025C>A p.Gly675Gly Synonymous 14/18 -