Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116620796-C-T | BUD13 | c.1767-1505G>A | - | IntronicSNV | - | 9/9 |
12-112113508-G-A | BRAP | c.634-2930C>T | - | IntronicSNV | - | 4/11 |
11-116639941-A-T | BUD13 | c.237+904T>A | - | IntronicSNV | - | 2/9 |
10-90987564-T-A | LIPA | c.428+393A>T | - | IntronicSNV | - | 4/9 |
16-57009544-T-C | CETP | c.981+481T>C | - | IntronicSNV | - | 10/15 |
10-90991179-C-T | LIPA | c.230-3024G>A | - | IntronicSNV | - | 3/9 |
10-90999036-A-G | LIPA | c.229+6397T>C | - | IntronicSNV | - | 3/9 |
8-19818436-C-T | LPL | c.1164C>T | p.Thr388Thr | Synonymous | 8/10 | - |
8-19818436-C-A | LPL | c.1164C>A | p.Thr388Thr | Synonymous | 8/10 | - |
8-19815098-C-T | LPL | c.1018+1504C>T | - | IntronicSNV | - | 6/9 |
20-39737264-T-C | TOP1 | c.1309-4158T>C | - | IntronicSNV | - | 13/20 |
10-90986063-T-C | LIPA | c.538+589A>G | - | IntronicSNV | - | 5/9 |
11-116624703-G-T | BUD13 | c.1766+3159C>A | - | IntronicSNV | - | 9/9 |
16-56996211-G-A | CETP | c.118+202G>A | - | IntronicSNV | - | 1/15 |
8-19811006-T-C | LPL | c.541+74T>C | - | IntronicSNV | - | 4/9 |
10-90989109-T-A | LIPA | c.230-954A>T | - | IntronicSNV | - | 3/9 |
12-112110489-T-C | BRAP | c.723A>G | p.Arg241Arg | Synonymous | 5/12 | - |
11-116631391-T-C | BUD13 | c.1254+60A>G | - | IntronicSNV | - | 5/9 |
10-91002927-C-T | LIPA | c.229+2506G>A | - | IntronicSNV | - | 3/9 |
16-57006590-C-G | CETP | c.750+595C>G | - | IntronicSNV | - | 8/15 |
16-56996288-G-A | CETP | c.118+279G>A | - | IntronicSNV | - | 1/15 |
8-19813702-G-T | LPL | c.1018+108G>T | - | IntronicSNV | - | 6/9 |
12-112103148-C-G | BRAP | c.896+295G>C | - | IntronicSNV | - | 6/11 |
8-19813529-A-G | LPL | c.953A>G | p.Asn318Ser | Missense | 6/10 | - |
16-57006590-C-T | CETP | c.750+595C>T | - | IntronicSNV | - | 8/15 |
10-90989109-T-C | LIPA | c.230-954A>G | - | IntronicSNV | - | 3/9 |
8-19813702-G-A | LPL | c.1018+108G>A | - | IntronicSNV | - | 6/9 |
12-112103148-C-T | BRAP | c.896+295G>A | - | IntronicSNV | - | 6/11 |
8-19823963-C-T | LPL | c.*1142C>T | - | 3-UTRSNV | 10/10 | - |
11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
11-116633947-G-A | BUD13 | c.358C>T | p.Arg120Cys | Missense | 4/10 | - |
11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
8-19815023-A-T | LPL | c.1018+1429A>T | - | IntronicSNV | - | 6/9 |
8-19809695-T-C | LPL | c.429+236T>C | - | IntronicSNV | - | 3/9 |
10-91005952-G-A | LIPA | c.112-402C>T | - | IntronicSNV | - | 2/9 |
10-90984990-G-T | LIPA | c.539-5C>A | - | IntronicSNV | - | 5/9 |
8-19816934-T-C | LPL | c.1139+43T>C | - | IntronicSNV | - | 7/9 |
10-90977694-G-A | LIPA | c.895-1928C>T | - | IntronicSNV | - | 8/9 |
16-56997233-G-A | CETP | c.233+197G>A | - | IntronicSNV | - | 2/15 |
10-90982081-A-G | LIPA | c.894+187T>C | - | IntronicSNV | - | 8/9 |
16-56996211-G-C | CETP | c.118+202G>C | - | IntronicSNV | - | 1/15 |
16-57016092-G-C | CETP | c.1264G>C | p.Val422Leu | Missense | 14/16 | - |
8-19803093-C-T | LPL | c.89-2598C>T | - | IntronicSNV | - | 1/9 |
11-116620256-C-A | BUD13 | c.1767-965G>T | - | IntronicSNV | - | 9/9 |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
16-57016092-G-A | CETP | c.1264G>A | p.Val422Ile | Missense | 14/16 | - |
16-57015545-C-A | CETP | c.1215-14C>A | - | IntronicSNV | - | 12/15 |
16-57005479-C-A | CETP | c.658+186C>A | - | IntronicSNV | - | 7/15 |
16-57008508-A-T | CETP | c.931-505A>T | - | IntronicSNV | - | 9/15 |
8-19813676-C-A | LPL | c.1018+82C>A | - | IntronicSNV | - | 6/9 |
8-19819328-T-C | LPL | c.1323-298T>C | - | IntronicSNV | - | 8/9 |
11-116639941-A-G | BUD13 | c.237+904T>C | - | IntronicSNV | - | 2/9 |
16-57008508-A-C | CETP | c.931-505A>C | - | IntronicSNV | - | 9/15 |
16-56999258-A-C | CETP | c.233+2222A>C | - | IntronicSNV | - | 2/15 |
10-90981561-A-G | LIPA | c.894+707T>C | - | IntronicSNV | - | 8/9 |
16-57015545-C-T | CETP | c.1215-14C>T | - | IntronicSNV | - | 12/15 |
11-116640368-A-G | BUD13 | c.237+477T>C | - | IntronicSNV | - | 2/9 |
8-19824492-T-C | LPL | c.*1671T>C | - | 3-UTRSNV | 10/10 | - |
8-19824492-T-A | LPL | c.*1671T>A | - | 3-UTRSNV | 10/10 | - |
10-90985948-C-T | LIPA | c.538+704G>A | - | IntronicSNV | - | 5/9 |
16-57011185-G-A | CETP | c.982-818G>A | - | IntronicSNV | - | 10/15 |
11-116620129-G-A | BUD13 | c.1767-838C>T | - | IntronicSNV | - | 9/9 |
11-116623659-C-T | BUD13 | c.1766+4203G>A | - | IntronicSNV | - | 9/9 |
6-26458265-T-C | BTN2A1 | c.-136T>C | - | 5_prime_UTR_variant | 1/8 | - |
11-116654435-C-T | ZPR1 | c.892-100G>A | - | IntronicSNV | - | 9/13 |
8-19818976-A-C | LPL | c.1322+382A>C | - | IntronicSNV | - | 8/9 |
16-57000284-G-C | CETP | c.234-3014G>C | - | IntronicSNV | - | 2/15 |
16-57000284-G-A | CETP | c.234-3014G>A | - | IntronicSNV | - | 2/15 |
16-57009941-T-C | CETP | c.981+878T>C | - | IntronicSNV | - | 10/15 |
11-116628401-T-C | BUD13 | c.1684+81A>G | - | IntronicSNV | - | 8/9 |
8-19819439-A-G | LPL | c.1323-187A>G | - | IntronicSNV | - | 8/9 |
8-19819536-T-G | LPL | c.1323-90T>G | - | IntronicSNV | - | 8/9 |
8-19811417-C-T | LPL | c.542-214C>T | - | IntronicSNV | - | 4/9 |
10-90992104-T-C | LIPA | c.230-3949A>G | - | IntronicSNV | - | 3/9 |
11-116657561-C-T | ZPR1 | c.424+124G>A | - | IntronicSNV | - | 3/13 |
10-90984990-G-C | LIPA | c.539-5C>G | - | IntronicSNV | - | 5/9 |
8-19816238-A-C | LPL | c.1019-533A>C | - | IntronicSNV | - | 6/9 |
11-116619051-G-A | BUD13 | c.*147C>T | - | 3-UTRSNV | 10/10 | - |
10-90984990-G-A | LIPA | c.539-5C>T | - | IntronicSNV | - | 5/9 |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
8-19824667-C-T | LPL | c.*1846C>T | - | 3-UTRSNV | 10/10 | - |
11-116653296-C-G | ZPR1 | c.1093-336G>C | - | IntronicSNV | - | 11/13 |
10-90987564-T-G | LIPA | c.428+393A>C | - | IntronicSNV | - | 4/9 |
16-57002732-T-G | CETP | c.234-566T>G | - | IntronicSNV | - | 2/15 |
8-19811897-C-G | LPL | c.775+33C>G | - | IntronicSNV | - | 5/9 |
8-19806568-C-A | LPL | c.249+717C>A | - | IntronicSNV | - | 2/9 |
11-116653296-C-T | ZPR1 | c.1093-336G>A | - | IntronicSNV | - | 11/13 |
10-90987564-T-C | LIPA | c.428+393A>G | - | IntronicSNV | - | 4/9 |
10-90983629-C-T | LIPA | c.676-42G>A | - | IntronicSNV | - | 6/9 |
11-116631690-G-A | BUD13 | c.1037-22C>T | - | IntronicSNV | - | 4/9 |
10-91006314-G-A | LIPA | c.112-764C>T | - | IntronicSNV | - | 2/9 |
16-56999328-C-T | CETP | c.233+2292C>T | - | IntronicSNV | - | 2/15 |
10-91007470-C-A | LIPA | c.1-65G>T | - | IntronicSNV | - | 1/9 |
8-19821815-T-G | LPL | c.-1-1006T>G | - | IntronicSNV | - | 9/9 |