PMID: 25962062

Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

PloS one
SM Han, B Hwang, TG Park, DI Kim, MY Rhee, BK Lee, YK Ahn, BR Cho, J Woo, SH Hur, JO Jeong, S Park, Y Jang, MG Lee, D Bang, JH Lee, SH Lee
2015

20 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11216243-G-A LDLR c.661G>A p.Asp221Asn Missense 4/18 -
19-11227594-G-A LDLR c.1765G>A p.Asp589Asn Missense 12/18 -
19-11221326-A-G LDLR c.941-2A>G - IntronicSNV - 6/17
19-11222188-A-G LDLR c.1061-2A>G - IntronicSNV - 7/17
19-11217315-C-T LDLR c.769C>T p.Arg257Trp Missense 5/18 -
19-11226885-C-G LDLR c.1702C>G p.Leu568Val Missense 11/18 -
19-11240301-ATGA-A LDLR c.2502_2504delTGA p.Asp834delAsp InFrameDeletion 17/18 -
1-55518070-C-T PCSK9 c.643C>T p.Arg215Cys Missense 4/12 -
19-11216264-G-A LDLR c.682G>A p.Glu228Lys Missense 4/18 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11216264-G-T LDLR c.682G>T p.Glu228* Nonsense 4/18 -
19-11216000-G-A LDLR c.418G>A p.Glu140Lys Missense 4/18 -
19-11216101-C-G LDLR c.519C>G p.Cys173Trp Missense 4/18 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
19-11216226-G-A LDLR c.644G>A p.Arg215His Missense 4/18 -
19-11213417-G-A LDLR c.268G>A p.Asp90Asn Missense 3/18 -
19-11240299-G-GC LDLR c.2500_2501insC p.Asp834Alafs*2 Frameshift 17/18 -
19-11215907-GTGCTCCCAGGACG-G LDLR c.325_337del13 p.Cys109Serfs*93 Frameshift 4/18 -