Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
16-72108093-G-A | HPR | c.92-90G>A | - | IntronicSNV | - | 2/4 |
16-57006378-A-G | CETP | c.750+383A>G | - | IntronicSNV | - | 8/15 |
2-44074431-C-T | ABCG8 | c.322+981C>T | - | IntronicSNV | - | 3/12 |
19-19466421-G-A | MAU2 | c.1768-96G>A | - | IntronicSNV | - | 18/18 |
19-45400747-T-A | TOMM40 | c.644-3240T>A | - | IntronicSNV | - | 6/9 |
2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
2-21226252-A-G | APOB | c.12088-46T>C | - | IntronicSNV | - | 28/28 |
8-19824492-T-C | LPL | c.*1671T>C | - | 3-UTRSNV | 10/10 | - |
8-19824492-T-A | LPL | c.*1671T>A | - | 3-UTRSNV | 10/10 | - |
12-125265689-C-T | SCARB1 | c.*1540G>A | - | IntronicSNV | 13/13 | - |
7-73029437-C-T | MLXIPL | c.400+964G>A | - | IntronicSNV | - | 2/16 |
6-160564476-C-G | SLC22A1 | c.1277-97C>G | - | IntronicSNV | - | 7/10 |
1-62996838-C-T | DOCK7 | c.3519-1721G>A | - | IntronicSNV | - | 28/48 |
9-136127601-G-A | ABO | c.*3452C>T | - | 3_prime_UTR_variant | 8/8 | - |
8-19803137-T-C | LPL | c.89-2554T>C | - | IntronicSNV | - | 1/9 |
6-160559807-C-A | SLC22A1 | c.1062-878C>A | - | IntronicSNV | - | 6/10 |
1-109817590-G-T | CELSR2 | c.*919G>T | - | 3-UTRSNV | 34/34 | - |
4-88051908-G-A | AFF1 | c.2944-327G>A | - | IntronicSNV | - | 15/19 |
16-67770828-T-C | RANBP10 | c.591+1088A>G | - | IntronicSNV | - | 5/13 |
11-116657561-C-T | ZPR1 | c.424+124G>A | - | IntronicSNV | - | 3/13 |
9-15305378-G-C | TTC39B | c.240+1704C>G | - | IntronicSNV | - | 1/19 |
8-19819439-A-G | LPL | c.1323-187A>G | - | IntronicSNV | - | 8/9 |
2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
12-109997645-G-A | MMAB | c.585-685C>T | - | IntronicSNV | - | 7/8 |
12-109997645-G-C | MMAB | c.585-685C>G | - | IntronicSNV | - | 7/8 |
11-116661392-C-A | APOA5 | c.553G>T | p.Gly185Cys | Missense | 4/4 | - |
11-46743247-T-C | F2 | c.316+857T>C | - | IntronicSNV | - | 4/13 |
9-107665739-G-A | ABCA1 | c.66+156C>T | - | IntronicSNV | - | 2/49 |
11-116661392-C-T | APOA5 | c.553G>A | p.Gly185Ser | Missense | 4/4 | - |
15-42683787-G-A | CAPN3 | c.946-1050G>A | - | IntronicSNV | - | 6/23 |
19-11202569-G-A | LDLR | c.67+2278G>A | - | IntronicSNV | - | 1/17 |
9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
19-11202569-G-T | LDLR | c.67+2278G>T | - | IntronicSNV | - | 1/17 |
4-88030261-G-T | AFF1 | c.1512+794G>T | - | IntronicSNV | - | 10/19 |
8-19824667-C-T | LPL | c.*1846C>T | - | 3-UTRSNV | 10/10 | - |
16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
1-55523802-A-G | PCSK9 | c.1274A>G | p.Asn425Ser | Missense | 8/12 | - |
1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
2-21225281-C-T | APOB | c.13013G>A | p.Ser4338Asn | Missense | 29/29 | - |
20-43042364-C-T | HNF4A | c.416C>T | p.Thr139Ile | Missense | 4/10 | - |
16-67997920-T-C | SLC12A4 | c.116-458A>G | - | IntronicSNV | - | 1/23 |
19-19468260-C-T | MAU2 | c.*1669C>T | - | 3-UTRSNV | 19/19 | - |
11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |
5-74909446-C-G | ANKDD1B | c.193+1794C>G | - | IntronicSNV | - | 1/13 |
19-45410548-A-G | APOE | c.44-469A>G | - | IntronicSNV | - | 2/3 |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
1-55505647-G-A | PCSK9 | c.137G>A | p.Arg46His | Missense | 1/12 | - |
15-58724842-G-A | LIPC | c.88+523G>A | - | IntronicSNV | - | 1/8 |
17-66875294-C-G | ABCA8 | c.3919-1474G>C | - | IntronicSNV | - | 30/37 |
1-63025942-G-T | DOCK7 | c.2200-1051C>A | - | IntronicSNV | - | 19/48 |
2-165540800-T-C | COBLL1 | c.*1656A>G | - | 3-UTRSNV | 14/14 | - |
16-56996211-G-A | CETP | c.118+202G>A | - | IntronicSNV | - | 1/15 |
1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
1-62922660-G-A | DOCK7 | c.6287+549C>T | - | IntronicSNV | - | 48/48 |
2-21252534-G-A | APOB | c.1594C>T | p.Arg532Trp | Missense | 12/29 | - |
16-56995935-C-A | CETP | c.44C>A | p.Ala15Asp | Missense | 1/16 | - |
2-44066247-G-C | ABCG8 | c.55G>C | p.Asp19His | Missense | 1/13 | - |
16-57006590-C-G | CETP | c.750+595C>G | - | IntronicSNV | - | 8/15 |
1-55523855-G-C | PCSK9 | c.1327G>C | p.Ala443Pro | Missense | 8/12 | - |
16-56995935-C-G | CETP | c.44C>G | p.Ala15Gly | Missense | 1/16 | - |
16-57006590-C-T | CETP | c.750+595C>T | - | IntronicSNV | - | 8/15 |
7-73012785-A-G | MLXIPL | c.1072-742T>C | - | IntronicSNV | - | 8/16 |
11-61597972-A-G | FADS2 | c.207+1903A>G | - | IntronicSNV | - | 1/11 |
16-57007353-C-T | CETP | c.861C>T | p.Phe287Phe | Synonymous | 9/16 | - |
9-107665978-C-T | ABCA1 | c.1-18G>A | - | 5-UTRSNV | 2/50 | - |
2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
19-19455750-G-A | MAU2 | c.1155+15G>A | - | IntronicSNV | - | 11/18 |
5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
9-107665978-C-G | ABCA1 | c.1-18G>C | - | 5-UTRSNV | 2/50 | - |
2-44068341-C-T | ABCG8 | c.63+2086C>T | - | IntronicSNV | - | 1/12 |
11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |
11-116662407-G-A | APOA5 | c.56C>T | p.Ser19Leu | Missense | 3/4 | - |
17-38062976-G-C | GSDMB | c.662-452C>G | - | IntronicSNV | - | 4/7 |
2-27742603-T-C | GCKR | c.1572+799T>C | - | IntronicSNV | - | 17/18 |
11-126243952-G-A | ST3GAL4 | c.-61+17755G>A | - | intron_variant | - | 1/10 |
2-44066247-G-A | ABCG8 | c.55G>A | p.Asp19Asn | Missense | 1/13 | - |
7-73020337-C-G | MLXIPL | c.723G>C | p.Gln241His | Missense | 6/17 | - |
11-116884789-G-A | SIK3 | c.274-57009C>T | - | intron_variant | - | 1/23 |
11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
17-37813856-G-C | STARD3 | c.298-172G>C | - | IntronicSNV | - | 3/14 |
7-72129667-C-T | TYW1B | c.1506+30010G>A | - | intron_variant | - | 12/14 |
11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
11-47259668-T-C | DDB2 | c.1189-21T>C | - | IntronicSNV | - | 8/9 |
1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
1-55529215-C-T | PCSK9 | c.2037C>T | p.Cys679Cys | Synonymous | 12/12 | - |
19-19596340-G-A | GATAD2A | c.270-6775G>A | - | IntronicSNV | - | 2/11 |
16-56996211-G-C | CETP | c.118+202G>C | - | IntronicSNV | - | 1/15 |
2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
16-72098952-C-T | HPR | c.5+1793C>T | - | IntronicSNV | - | 1/4 |
8-19823192-T-C | LPL | c.*371T>C | - | 3-UTRSNV | 10/10 | - |
9-107665978-C-A | ABCA1 | c.1-18G>T | - | 5-UTRSNV | 2/50 | - |
5-74909446-C-T | ANKDD1B | c.193+1794C>T | - | IntronicSNV | - | 1/13 |
5-74753634-A-G | COL4A3BP | c.348+1256T>C | - | IntronicSNV | - | 3/17 |
16-72089451-T-C | HP | c.6-609T>C | - | IntronicSNV | - | 1/6 |
11-116662579-C-T | APOA5 | c.1-3G>A | - | 5-UTRSNV | 2/4 | - |
16-67719184-C-T | GFOD2 | c.259+176G>A | - | IntronicSNV | - | 2/2 |
8-10683929-G-C | PINX1 | c.302-175C>G | - | IntronicSNV | - | 4/6 |
8-10683929-G-T | PINX1 | c.302-175C>A | - | IntronicSNV | - | 4/6 |
12-57707295-C-T | R3HDM2 | c.1-3084G>A | - | IntergenicSNV | - | 1/23 |
2-44068341-C-G | ABCG8 | c.63+2086C>G | - | IntronicSNV | - | 1/12 |
1-62996838-C-G | DOCK7 | c.3519-1721G>C | - | IntronicSNV | - | 28/48 |
20-39713869-G-A | TOP1 | c.614+661G>A | - | IntronicSNV | - | 8/20 |
11-61579760-T-C | FADS1 | c.684+183A>G | - | IntronicSNV | - | 3/11 |
16-72089451-T-G | HP | c.6-609T>G | - | IntronicSNV | - | 1/6 |
1-55523855-G-A | PCSK9 | c.1327G>A | p.Ala443Thr | Missense | 8/12 | - |
2-44074431-C-A | ABCG8 | c.322+981C>A | - | IntronicSNV | - | 3/12 |
17-38062976-G-A | GSDMB | c.662-452C>T | - | IntronicSNV | - | 4/7 |
8-19823648-A-T | LPL | c.*827A>T | - | 3-UTRSNV | 10/10 | - |
16-72048632-A-G | DHODH | c.434+61A>G | - | IntronicSNV | - | 3/8 |
1-62957030-G-A | DOCK7 | c.5268+1345C>T | - | IntronicSNV | - | 40/48 |