Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
9-107584351-T-C | ABCA1 | c.2828+426A>G | - | IntronicSNV | - | 19/49 |
9-107602678-G-T | ABCA1 | c.936C>A | p.Pro312Pro | Synonymous | 9/50 | - |
12-125307053-G-A | SCARB1 | c.127-4800C>T | - | IntronicSNV | - | 1/12 |
7-44578696-C-T | NPC1L1 | c.1300G>A | p.Gly434Arg | Missense | 2/20 | - |
2-21225753-C-T | APOB | c.12541G>A | p.Glu4181Lys | Missense | 29/29 | - |
9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
1-206946897-T-C | IL19 | c.-35+2474T>C | - | intron_variant | - | 1/6 |
12-125348263-C-T | SCARB1 | c.4G>A | p.Gly2Ser | Missense | 1/13 | - |
10-69675158-A-G | SIRT1 | c.1916-864A>G | - | IntronicSNV | - | 8/8 |
2-21225753-C-A | APOB | c.12541G>T | p.Glu4181* | Nonsense | 29/29 | - |
9-107647019-C-T | ABCA1 | c.161-170G>A | - | IntronicSNV | - | 3/49 |
11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |
21-43708414-A-T | ABCG1 | c.1249A>T | p.Arg417Trp | Missense | 10/15 | - |
7-44578696-C-A | NPC1L1 | c.1300G>T | p.Gly434* | Nonsense | 2/20 | - |
7-44578792-C-T | NPC1L1 | c.1204G>A | p.Gly402Ser | Missense | 2/20 | - |
11-67352689-A-G | GSTP1 | c.313A>G | p.Ile105Val | Missense | 5/7 | - |
11-116708413-C-T | APOA1 | c.-113G>A | - | 5_prime_UTR_variant | 1/4 | - |
19-16008388-A-C | CYP4F2 | c.34T>G | p.Trp12Gly | Missense | 2/13 | - |
9-107604104-A-G | ABCA1 | c.814-1304T>C | - | IntronicSNV | - | 8/49 |
22-19945177-A-G | COMT | c.-91-3545A>G | - | intron_variant | - | 1/5 |
12-125284748-A-C | SCARB1 | c.1050T>G | p.Ala350Ala | Synonymous | 8/13 | - |
19-15990431-C-T | CYP4F2 | c.1297G>A | p.Val433Met | Missense | 11/13 | - |
9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
9-113016885-T-C | TXN | c.24+1807A>G | - | IntronicSNV | - | 1/3 |
10-69753620-C-T | HERC4 | c.1070-1181G>A | - | IntronicSNV | - | 9/24 |
7-44578812-G-A | NPC1L1 | c.1184C>T | p.Ala395Val | Missense | 2/20 | - |
9-107602678-G-A | ABCA1 | c.936C>T | p.Pro312Pro | Synonymous | 9/50 | - |
9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
7-44578747-G-A | NPC1L1 | c.1249C>T | p.Arg417Trp | Missense | 2/20 | - |
2-21232195-G-A | APOB | c.7545C>T | p.Thr2515Thr | Synonymous | 26/29 | - |
7-80272568-T-C | CD36 | c.-183-2836T>C | - | intron_variant | - | 1/13 |
7-80272568-T-A | CD36 | c.-183-2836T>A | - | intron_variant | - | 1/13 |
18-21140432-T-C | NPC1 | c.644A>G | p.His215Arg | Missense | 6/25 | - |
12-125284748-A-G | SCARB1 | c.1050T>C | p.Ala350Ala | Synonymous | 8/13 | - |
7-80244939-G-A | CD36 | c.-184+13244G>A | - | intron_variant | - | 1/13 |
12-125284748-A-T | SCARB1 | c.1050T>A | p.Ala350Ala | Synonymous | 8/13 | - |