Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
17-64210580-A-C | APOH | c.973T>G | p.C325G | Missense | 7/8 | - |
19-45411110-T-C | APOE | c.137T>C | p.L46P | Missense | 3/4 | - |
19-45412040-C-T | APOE | c.487C>T | p.R163C | Missense | 4/4 | - |
11-116691675-T-A | APOA4 | c.1099A>T | p.T367S | Missense | 3/3 | - |
11-116691634-C-A | APOA4 | c.1140G>T | p.Q380H | Missense | 3/3 | - |
17-64208285-C-G | APOH | c.1004G>C | p.W335S | Missense | 8/8 | - |
6-31625507-G-A | APOM | c.541+7G>A | - | IntronicSNV | - | 5/5 |
2-21250914-G-A | APOB | c.1853C>T | p.A618V | Missense | 14/29 | - |
2-21260084-G-A | APOB | c.581C>T | p.T194M | Missense | 6/29 | - |
6-31625507-G-T | APOM | c.541+7G>T | - | IntronicSNV | - | 5/5 |
2-21233972-T-C | APOB | c.5768A>G | p.H1923R | Missense | 26/29 | - |
2-21260934-G-A | APOB | c.433C>T | p.P145S | Missense | 5/29 | - |
2-21228827-C-T | APOB | c.10913G>A | p.R3638Q | Missense | 26/29 | - |
19-45412337-G-A | APOE | c.784G>A | p.E262K | Missense | 4/4 | - |
19-45412340-G-A | APOE | c.787G>A | p.E263K | Missense | 4/4 | - |
17-64216815-C-T | APOH | c.461G>A | p.R154H | Missense | 5/8 | - |
19-45411025-G-A | APOE | c.52G>A | p.A18T | Missense | 3/4 | - |
2-21229446-G-C | APOB | c.10294C>G | p.Q3432E | Missense | 26/29 | - |
2-21233999-T-C | APOB | c.5741A>G | p.N1914S | Missense | 26/29 | - |
2-115205432-T-A | DPP10 | c.60+5017T>A | - | IntronicSNV | - | 1/25 |
9-97522120-AGC-TGG | AOPEP | c.55_57delAGCinsTGG | p.S19W | Missense | 2/17 | - |
2-21229905-T-C | APOB | c.9835A>G | p.S3279G | Missense | 26/29 | - |
2-115205432-T-G | DPP10 | c.60+5017T>G | - | IntronicSNV | - | 1/25 |
11-116701353-C-T | APOC3 | c.55C>T | p.R19* | Nonsense | 2/4 | - |
2-21232373-G-T | APOB | c.7367C>A | p.A2456D | Missense | 26/29 | - |
19-45412172-C-T | APOE | c.619C>T | p.R207C | Missense | 4/4 | - |
11-116703640-G-C | APOC3 | c.*40G>C | - | 3-UTRSNV | 4/4 | - |
11-116701354-G-A | APOC3 | c.55+1G>A | - | IntronicSNV | - | 2/3 |
2-21237544-G-A | APOB | c.3697-79C>T | - | IntronicSNV | - | 23/28 |
2-21237544-G-T | APOB | c.3697-79C>A | - | IntronicSNV | - | 23/28 |
2-21238007-G-T | APOB | c.3634C>A | p.L1212M | Missense | 23/29 | - |
2-21252534-G-A | APOB | c.1594C>T | p.R532W | Missense | 12/29 | - |
2-21229860-A-G | APOB | c.9880T>C | p.S3294P | Missense | 26/29 | - |
2-21263900-G-A | APOB | c.293C>T | p.T98I | Missense | 4/29 | - |
2-21232195-G-A | APOB | c.7545C>T | p.T2515= | Synonymous | 26/29 | - |
2-21225753-C-T | APOB | c.12541G>A | p.E4181K | Missense | 29/29 | - |
11-116701560-G-A | APOC3 | c.127G>A | p.A43T | Missense | 3/4 | - |
2-21231524-G-A | APOB | c.8216C>T | p.P2739L | Missense | 26/29 | - |
2-21225281-C-T | APOB | c.13013G>A | p.S4338N | Missense | 29/29 | - |