Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
6-161085295-A-G | LPA | c.1-49T>C | - | IntronicSNV | 1/39 | - |
6-161085267-C-G | LPA | c.1-21G>C | - | 5-UTRSNV | 1/39 | - |
6-161085267-C-T | LPA | c.1-21G>A | - | 5-UTRSNV | 1/39 | - |
18-56985729-G-A | CPLX4 | c.1-35C>T | - | 5-UTRSNV | 1/3 | - |
12-125263084-G-A | SCARB1 | c.*49C>T | - | 3_prime_UTR_variant | 13/13 | - |
4-38830514-A-G | TLR6 | c.581T>C | p.L194P | Missense | 2/2 | - |
4-38829702-C-T | TLR6 | c.1393G>A | p.V465I | Missense | 2/2 | - |
4-38830736-A-G | TLR6 | c.359T>C | p.I120T | Missense | 2/2 | - |
5-150632832-G-A | GM2A | c.55G>A | p.A19T | Missense | 1/4 | - |
5-150647156-T-C | GM2A | c.*144T>C | - | 3-UTRSNV | 4/4 | - |
5-150647040-C-T | GM2A | c.*28C>T | - | 3-UTRSNV | 4/4 | - |
8-33370261-G-A | TTI2 | c.1-130C>T | - | IntronicSNV | - | 1/7 |
5-150562992-T-C | CCDC69 | c.*6A>G | - | 3-UTRSNV | 9/9 | - |
18-56963852-T-C | CPLX4 | c.*78A>G | - | 3-UTRSNV | 3/3 | - |
18-56963852-T-G | CPLX4 | c.*78A>C | - | 3-UTRSNV | 3/3 | - |
6-160404044-C-T | IGF2R | c.150-8172C>T | - | IntronicSNV | - | 1/47 |
5-150480520-C-T | ANXA6 | c.*489G>A | - | 3-UTRSNV | 26/26 | - |
18-56963767-C-G | CPLX4 | c.*163G>C | - | 3-UTRSNV | 3/3 | - |
2-21225753-C-T | APOB | c.12541G>A | p.E4181K | Missense | 29/29 | - |
6-161010118-A-G | LPA | c.3947+467T>C | - | IntronicSNV | - | 24/38 |
11-46761055-G-A | F2 | c.*97G>A | - | 3-UTRSNV | 14/14 | - |
1-55505647-G-T | PCSK9 | c.137G>T | p.R46L | Missense | 1/12 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
6-158517188-C-T | SYNJ2 | c.4283C>T | p.T1428I | Missense | 27/27 | - |
18-57026422-C-T | LMAN1 | c.55G>A | p.A19T | Missense | 1/13 | - |
2-21232175-C-T | APOB | c.7565G>A | p.R2522Q | Missense | 26/29 | - |
5-150175153-C-T | SMIM3 | c.151C>T | p.R51W | Missense | 2/2 | - |
9-113208140-GG-CC | SVEP1 | c.4439_4440delCCinsGG | p.T1480R | Missense | 26/48 | - |
4-38830234-T-C | TLR6 | c.861A>G | p.T287= | Synonymous | 2/2 | - |
22-38073044-C-T | LGALS1 | c.61C>T | p.R21* | Nonsense | 2/4 | - |
9-113261483-C-T | SVEP1 | c.1519G>A | p.V507I | Missense | 7/48 | - |
6-160961137-T-C | LPA | c.5673A>G | p.I1891M | Missense | 36/39 | - |
6-160557643-C-T | SLC22A1 | c.1022C>T | p.P341L | Missense | 6/11 | - |
6-160557643-C-G | SLC22A1 | c.1022C>G | p.P341R | Missense | 6/11 | - |
19-11227554-C-T | LDLR | c.1725C>T | p.L575= | Synonymous | 12/18 | - |
12-125348263-C-T | SCARB1 | c.4G>A | p.G2S | Missense | 1/13 | - |
19-11242044-G-A | LDLR | c.*52G>A | - | 3-UTRSNV | 18/18 | - |
2-170044661-G-A | LRP2 | c.9147C>T | p.F3049= | Synonymous | 49/79 | - |
6-161013013-T-C | LPA | c.3630-880A>G | - | IntronicSNV | - | 22/38 |
18-57026361-A-G | LMAN1 | c.116T>C | p.V39A | Missense | 1/13 | - |
2-21249716-C-T | APOB | c.2188G>A | p.V730I | Missense | 15/29 | - |