PMID: 29036232

Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

PloS one

CJ Lee, Y Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee

2017

27 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
2-21266783-A-G	APOB	c.35T>C	p.Leu12Pro	Missense	1/29	-
2-21263900-G-A	APOB	c.293C>T	p.Thr98Ile	Missense	4/29	-
2-21225281-C-T	APOB	c.13013G>A	p.Ser4338Asn	Missense	29/29	-
2-21247843-G-T	APOB	c.2398C>A	p.Leu800Met	Missense	16/29	-
2-21255236-C-T	APOB	c.1342G>A	p.Ala448Thr	Missense	10/29	-
8-133879287-C-CCTGCTGCTG	TG	c.42_43insCTGCTGCTG	p.Ile14_cys15insLeuleuleu	InFrameInsertion	1/48	-
1-55529226-A-AA	PCSK9	c.2048_2048dupA	p.His683Glnfs*28	Frameshift	12/12	-
2-21260084-G-A	APOB	c.581C>T	p.Thr194Met	Missense	6/29	-
2-21235475-T-G	APOB	c.4265A>C	p.Tyr1422Ser	Missense	26/29	-
2-21235475-T-A	APOB	c.4265A>T	p.Tyr1422Phe	Missense	26/29	-
2-21235475-T-C	APOB	c.4265A>G	p.Tyr1422Cys	Missense	26/29	-
2-21252534-G-A	APOB	c.1594C>T	p.Arg532Trp	Missense	12/29	-
1-55505668-C-T	PCSK9	c.158C>T	p.Ala53Val	Missense	1/12	-
2-21232803-T-A	APOB	c.6937A>T	p.Ile2313Phe	Missense	26/29	-
2-21232803-T-C	APOB	c.6937A>G	p.Ile2313Val	Missense	26/29	-
1-55524237-G-A	PCSK9	c.1420G>A	p.Val474Ile	Missense	9/12	-
2-21250914-G-A	APOB	c.1853C>T	p.Ala618Val	Missense	14/29	-
2-21231524-G-A	APOB	c.8216C>T	p.Pro2739Leu	Missense	26/29	-
2-21231387-T-G	APOB	c.8353A>C	p.Asn2785His	Missense	26/29	-
1-55524312-C-T	PCSK9	c.1495C>T	p.Arg499Cys	Missense	9/12	-
2-21228620-G-A	APOB	c.11120C>T	p.Ala3707Val	Missense	26/29	-
2-21227212-C-T	APOB	c.12016G>A	p.Val4006Ile	Missense	28/29	-
1-55529187-G-A	PCSK9	c.2009G>A	p.Gly670Glu	Missense	12/12	-
8-133880450-C-T	TG	c.158C>T	p.Ala53Val	Missense	2/48	-
8-133879255-G-A	TG	c.10G>A	p.Val4Ile	Missense	1/48	-
1-55505520-G-A	PCSK9	c.10G>A	p.Val4Ile	Missense	1/12	-
1-55509585-C-T	PCSK9	c.277C>T	p.Arg93Cys	Missense	2/12	-