PMID: 28577571

Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids in health and disease
CS Paththinige, ND Sirisena, V Dissanayake
2017-06-02

138 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
20-44540692-C-A PLTP c.-12+26G>T - intron_variant - 1/15
20-44540692-C-G PLTP c.-12+26G>C - intron_variant - 1/15
15-101867487-C-G PCSK6 c.2075-803G>C - intron_variant - 16/22
15-101867487-C-T PCSK6 c.2075-803G>A - intron_variant - 16/22
11-61580635-C-T FADS1 c.486+80G>A - IntronicSNV - 2/11
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
19-45412053-CTCC-C APOE c.500_502delTCC p.Leu167delLeu InFrameDeletion 4/4 -
19-45395619-A-G TOMM40 c.275-31A>G - IntronicSNV - 2/9
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
11-61552680-G-T MYRF c.3181-592G>T - IntronicSNV - 24/25
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
3-118948171-A-G B4GALT4 c.253+523T>C - IntronicSNV - 3/7
22-46614274-C-G PPARA c.484C>G p.Leu162Val Missense 5/8 -
11-61570783-T-C FADS1 c.1248+52A>G - IntronicSNV - 9/11
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
1-109817590-G-T CELSR2 c.*919G>T - 3-UTRSNV 34/34 -
1-179315898-C-A SOAT1 c.1118-837C>A - IntronicSNV - 11/15
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
2-27722416-G-A GCKR c.549+99G>A - IntronicSNV - 7/18
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
10-91005854-C-T LIPA c.112-304G>A - IntronicSNV - 2/9
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
7-44552209-T-C NPC1L1 c.*837A>G - 3-UTRSNV 20/20 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
7-44553238-A-G NPC1L1 c.3888T>C p.Val1296Val Synonymous 20/20 -
4-68472059-A-G STAP1 c.872A>G p.Asn291Ser Missense 9/9 -
1-230237103-A-G GALNT2 c.126+33950A>G - IntronicSNV - 1/15
7-44580876-G-A NPC1L1 c.1-18C>T - 5-UTRSNV 1/20 -
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
7-44580876-G-T NPC1L1 c.1-18C>A - 5-UTRSNV 1/20 -
12-125328779-G-A SCARB1 c.126+19362C>T - IntronicSNV - 1/12
9-78576644-G-A PCSK5 c.298-24404G>A - IntronicSNV - 2/36
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
1-179272116-T-A SOAT1 c.118+179T>A - IntronicSNV - 2/15
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
2-118849850-A-G INSIG2 c.-139+3733A>G - intron_variant - 1/5
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
1-63049551-A-G DOCK7 c.1801-626T>C - IntronicSNV - 15/48
1-63049551-A-C DOCK7 c.1801-626T>G - IntronicSNV - 15/48
3-12421238-C-G PPARG c.34C>G p.Pro12Ala Missense 2/7 -
19-11163562-C-T SMARCA4 c.4425-5369C>T - IntronicSNV - 30/34
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
3-12353198-C-G PPARG c.-3+23679C>G - intron_variant - 1/6
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
6-31625541-C-A APOM c.541+41C>A - IntronicSNV - 5/5
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
9-15296034-C-A TTC39B c.240+11048G>T - IntronicSNV - 1/19
12-110016559-G-A MVK c.227-1048G>A - IntronicSNV - 3/10
1-179269444-T-C SOAT1 c.1-2376T>C - IntronicSNV - 1/15
7-87032613-A-C ABCB4 c.3487-16T>G - IntronicSNV - 26/27
19-11350488-C-T ANGPTL8 c.175C>T p.Arg59Trp Missense 1/4 -
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
2-170129547-C-T LRP2 c.2006G>A p.Gly669Asp Missense 15/79 -
6-33158898-C-T COL11A2 c.82+1038G>A - IntronicSNV - 1/4
12-125284748-A-G SCARB1 c.1050T>C p.Ala350Ala Synonymous 8/13 -
12-125284748-A-T SCARB1 c.1050T>A p.Ala350Ala Synonymous 8/13 -
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
2-169830155-G-A ABCB11 c.1434+70C>T - IntronicSNV - 13/27
7-87032613-A-G ABCB4 c.3487-16T>C - IntronicSNV - 26/27
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
6-35395795-G-C PPARD c.*1939G>C - 3-UTRSNV 8/8 -
6-16145325-A-G MYLIP c.1025A>G p.Asn342Ser Missense 6/7 -
6-35395795-G-A PPARD c.*1939G>A - 3-UTRSNV 8/8 -
6-35395795-G-T PPARD c.*1939G>T - 3-UTRSNV 8/8 -
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
9-78765001-C-T PCSK5 c.1313-6960C>T - IntronicSNV - 10/36
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
20-44538427-T-C PLTP c.330-117A>G - IntronicSNV - 4/15
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
7-94946084-A-C PON1 c.163T>G p.Leu55Val Missense 3/9 -
7-94946084-A-T PON1 c.163T>A p.Leu55Met Missense 3/9 -
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
1-230294715-C-A GALNT2 c.127-19249C>A - IntronicSNV - 1/15
1-179323738-C-A SOAT1 c.*962C>A - 3-UTRSNV 16/16 -
1-179323738-C-G SOAT1 c.*962C>G - 3-UTRSNV 16/16 -
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
1-63061906-C-T DOCK7 c.1683-9611G>A - IntronicSNV - 14/48
9-2636992-T-C VLDLR c.202+1420T>C - IntronicSNV - 2/18
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
17-64208285-C-G APOH c.1004G>C p.Trp335Ser Missense 8/8 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
7-87032613-A-T ABCB4 c.3487-16T>A - IntronicSNV - 26/27
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
7-87082292-G-A ABCB4 c.504C>T p.Asn168Asn Synonymous 6/28 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
8-19809322-G-C LPL c.292G>C p.Ala98Pro Missense 3/10 -
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
20-44534651-G-A PLTP c.705+256C>T - IntronicSNV - 8/15
7-94946084-A-G PON1 c.163T>C p.Leu55Leu Synonymous 3/9 -
9-78795213-C-G PCSK5 c.2003+599C>G - IntronicSNV - 15/36
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
7-94937446-T-C PON1 c.575A>G p.Gln192Arg Missense 6/9 -
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
1-230283764-G-A GALNT2 c.127-30200G>A - IntronicSNV - 1/15
11-47270255-C-T ACP2 c.86G>A p.Arg29Gln Missense 1/11 -
16-57009029-G-C CETP c.947G>C p.Trp316Ser Missense 10/16 -
21-43710909-C-G ABCG1 c.1427-293C>G - IntronicSNV - 11/14
1-230294715-C-T GALNT2 c.127-19249C>T - IntronicSNV - 1/15
12-53509933-C-T SOAT2 c.761C>T p.Thr254Ile Missense 7/15 -
7-6449272-A-G DAGLB c.*196T>C - 3-UTRSNV 15/15 -
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
1-230326412-G-A GALNT2 c.220+12355G>A - IntronicSNV - 2/15