Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
8-19820433-T-C | LPL | c.1427+703T>C | - | IntronicSNV | - | 9/9 |
19-45410444-G-A | APOE | c.43+520G>A | - | IntronicSNV | - | 2/3 |
4-177608707-C-T | VEGFC | c.812-33G>A | - | IntronicSNV | - | 5/6 |
19-45451662-G-A | APOC2 | c.1-74G>A | - | IntronicSNV | - | 1/3 |
4-658304-G-T | PDE6B | c.2129+294G>T | - | IntronicSNV | - | 17/21 |
8-19824492-T-C | LPL | c.*1671T>C | - | 3-UTRSNV | 10/10 | - |
8-19824492-T-A | LPL | c.*1671T>A | - | 3-UTRSNV | 10/10 | - |
9-107594364-A-G | ABCA1 | c.1510-256T>C | - | IntronicSNV | - | 12/49 |
11-116623659-C-T | BUD13 | c.1766+4203G>A | - | IntronicSNV | - | 9/9 |
7-73026378-C-A | MLXIPL | c.400+4023G>T | - | IntronicSNV | - | 2/16 |
1-237557130-T-C | RYR2 | c.773+5647T>C | - | IntronicSNV | - | 10/104 |
1-169530586-T-C | F5 | c.374-582A>G | - | IntronicSNV | - | 3/24 |
1-169533266-G-T | F5 | c.374-3262C>A | - | IntronicSNV | - | 3/24 |
7-73026378-C-T | MLXIPL | c.400+4023G>A | - | IntronicSNV | - | 2/16 |
8-19819536-T-G | LPL | c.1323-90T>G | - | IntronicSNV | - | 8/9 |
16-57015091-G-C | CETP | c.1168G>C | p.Ala390Pro | Missense | 12/16 | - |
11-116653296-C-T | ZPR1 | c.1093-336G>A | - | IntronicSNV | - | 11/13 |
11-116653296-C-G | ZPR1 | c.1093-336G>C | - | IntronicSNV | - | 11/13 |
16-68024995-G-A | DPEP2 | c.732+23C>T | - | IntronicSNV | - | 6/10 |
15-60855555-C-T | RORA | c.197-31505G>A | - | IntronicSNV | - | 2/10 |
19-11202460-T-A | LDLR | c.67+2169T>A | - | IntronicSNV | - | 1/17 |
16-57821875-T-C | KIFC3 | c.315+7036A>G | - | IntronicSNV | - | 3/18 |
1-169527945-C-T | F5 | c.730+446G>A | - | IntronicSNV | - | 5/24 |
2-21237544-G-A | APOB | c.3697-79C>T | - | IntronicSNV | - | 23/28 |
X-153660041-C-T | ATP6AP1 | c.289-135C>T | - | IntronicSNV | - | 2/9 |
7-80300449-T-G | CD36 | c.975T>G | p.Tyr325* | Nonsense | 10/14 | - |
9-107604197-G-T | ABCA1 | c.814-1397C>A | - | IntronicSNV | - | 8/49 |
10-83796920-A-G | NRG3 | c.823+161001A>G | - | IntronicSNV | - | 1/8 |
1-55518160-C-G | PCSK9 | c.657+76C>G | - | IntronicSNV | - | 4/11 |
2-21237544-G-T | APOB | c.3697-79C>A | - | IntronicSNV | - | 23/28 |
1-230300586-C-G | GALNT2 | c.127-13378C>G | - | IntronicSNV | - | 1/15 |
1-230300586-C-T | GALNT2 | c.127-13378C>T | - | IntronicSNV | - | 1/15 |
1-169533266-G-A | F5 | c.374-3262C>T | - | IntronicSNV | - | 3/24 |
19-45401666-A-G | TOMM40 | c.644-2321A>G | - | IntronicSNV | - | 6/9 |
10-95327429-C-T | FFAR4 | c.567+385C>T | - | IntronicSNV | - | 1/3 |
5-139403517-A-G | NRG2 | c.700+18438T>C | - | IntronicSNV | - | 1/10 |
12-2710223-T-C | CACNA1C | c.2854-797T>C | - | IntronicSNV | - | 21/46 |
16-57006590-C-T | CETP | c.750+595C>T | - | IntronicSNV | - | 8/15 |
8-19813529-A-G | LPL | c.953A>G | p.Asn318Ser | Missense | 6/10 | - |
16-57006590-C-G | CETP | c.750+595C>G | - | IntronicSNV | - | 8/15 |
1-109817192-A-G | CELSR2 | c.*521A>G | - | 3-UTRSNV | 34/34 | - |
16-57007353-C-T | CETP | c.861C>T | p.Phe287Phe | Synonymous | 9/16 | - |
1-63056112-G-A | DOCK7 | c.1683-3817C>T | - | IntronicSNV | - | 14/48 |
1-55518160-C-A | PCSK9 | c.657+76C>A | - | IntronicSNV | - | 4/11 |
1-55519174-G-A | PCSK9 | c.799+710G>A | - | IntronicSNV | - | 5/11 |
11-116662331-G-T | APOA5 | c.132C>A | p.Ile44Ile | Synonymous | 3/4 | - |
15-51539333-C-T | CYP19A1 | c.1-4224G>A | - | IntronicSNV | - | 1/9 |
1-55519174-G-C | PCSK9 | c.799+710G>C | - | IntronicSNV | - | 5/11 |
1-169528075-C-T | F5 | c.730+316G>A | - | IntronicSNV | - | 5/24 |
1-169528075-C-G | F5 | c.730+316G>C | - | IntronicSNV | - | 5/24 |
1-169528075-C-A | F5 | c.730+316G>T | - | IntronicSNV | - | 5/24 |
5-149218886-C-T | PPARGC1B | c.2619-718C>T | - | IntronicSNV | - | 8/11 |
2-44074000-G-A | ABCG8 | c.322+550G>A | - | IntronicSNV | - | 3/12 |
16-67976851-C-T | LCAT | c.340G>A | p.Val114Met | Missense | 3/6 | - |
16-57007446-T-A | CETP | c.930+24T>A | - | IntronicSNV | - | 9/15 |
16-57007446-T-G | CETP | c.930+24T>G | - | IntronicSNV | - | 9/15 |
16-67976851-C-A | LCAT | c.340G>T | p.Val114Leu | Missense | 3/6 | - |
16-67976851-C-G | LCAT | c.340G>C | p.Val114Leu | Missense | 3/6 | - |
1-237557130-T-G | RYR2 | c.773+5647T>G | - | IntronicSNV | - | 10/104 |
19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
19-45447221-G-A | APOC4 | c.77-785G>A | - | IntronicSNV | - | 1/2 |
19-19610596-C-G | GATAD2A | c.1204+1065C>G | - | IntronicSNV | - | 8/11 |
7-86439740-T-A | GRM3 | c.1324+23308T>A | - | IntronicSNV | - | 3/5 |
19-8431581-G-A | ANGPTL4 | c.547+378G>A | - | IntronicSNV | - | 3/6 |
19-8431581-G-C | ANGPTL4 | c.547+378G>C | - | IntronicSNV | - | 3/6 |
1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
19-10388462-G-A | ICAM1 | c.331+2758G>A | - | IntronicSNV | - | 2/6 |
19-19610596-C-T | GATAD2A | c.1204+1065C>T | - | IntronicSNV | - | 8/11 |
2-21229160-C-A | APOB | c.10580G>T | p.Arg3527Leu | Missense | 26/29 | - |
5-139403517-A-C | NRG2 | c.700+18438T>G | - | IntronicSNV | - | 1/10 |
20-43058962-G-A | HNF4A | c.*657G>A | - | 3-UTRSNV | 10/10 | - |
1-113040277-A-G | WNT2B | c.125+6574A>G | - | IntronicSNV | - | 2/5 |
5-149218886-C-A | PPARGC1B | c.2619-718C>A | - | IntronicSNV | - | 8/11 |
20-43058962-G-T | HNF4A | c.*657G>T | - | 3-UTRSNV | 10/10 | - |
21-27367821-C-G | APP | c.1090+1854G>C | - | IntronicSNV | - | 8/17 |
1-101186379-A-T | VCAM1 | c.340+72A>T | - | IntronicSNV | - | 2/8 |