PMID: 23054246

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal of medical genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
2012-10

17 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11215908-G-A LDLR c.326G>A p.Cys109Tyr Missense 4/18 -
19-11227605-GGGG-G LDLR c.1776_1778delGGG p.Gly593delGly InFrameDeletion 12/18 -
2-21229463-G-A APOB c.10277C>T p.Ala3426Val Missense 26/29 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11222279-C-T LDLR c.1150C>T p.Gln384* Nonsense 8/18 -
19-11240278-G-A LDLR c.2479G>A p.Val827Ile Missense 17/18 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
1-55523035-A-C PCSK9 c.1028A>C p.Asp343Ala Missense 7/12 -
19-11227652-C-T LDLR c.1823C>T p.Pro608Leu Missense 12/18 -
19-11216264-G-T LDLR c.682G>T p.Glu228* Nonsense 4/18 -
19-11226873-A-C LDLR c.1690A>C p.Asn564His Missense 11/18 -
19-11231199-G-A LDLR c.2140+1G>A - IntronicSNV - 14/17
1-241667402-G-A FH c.1048C>T p.Arg350Trp Missense 7/10 -
1-55523034-G-C PCSK9 c.1027G>C p.Asp343His Missense 7/12 -
19-11216014-G-GA LDLR c.432_433insA p.Val145Serfs*35 Frameshift 4/18 -
19-11226868-G-A LDLR c.1685G>A p.Trp562* Nonsense 11/18 -