Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
8-19819077-T-A | LPL | c.1322+483T>A | - | IntronicSNV | - | 8/9 |
8-19819077-T-G | LPL | c.1322+483T>G | - | IntronicSNV | - | 8/9 |
19-11230881-T-C | LDLR | c.1959T>C | p.V653= | Synonymous | 13/18 | - |
2-21232195-G-A | APOB | c.7545C>T | p.T2515= | Synonymous | 26/29 | - |
2-21225753-C-A | APOB | c.12541G>T | p.E4181* | Nonsense | 29/29 | - |
2-21225753-C-T | APOB | c.12541G>A | p.E4181K | Missense | 29/29 | - |
2-21231524-G-A | APOB | c.8216C>T | p.P2739L | Missense | 26/29 | - |
2-21231524-G-T | APOB | c.8216C>A | p.P2739Q | Missense | 26/29 | - |
8-19805708-G-A | LPL | c.106G>A | p.D36N | Missense | 2/10 | - |
1-55509689-T-G | PCSK9 | c.381T>G | p.S127R | Missense | 2/12 | - |
1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
1-55509687-A-C | PCSK9 | c.379A>C | p.S127R | Missense | 2/12 | - |
8-19813529-A-G | LPL | c.953A>G | p.N318S | Missense | 6/10 | - |
19-11227602-C-T | LDLR | c.1773C>T | p.N591= | Synonymous | 12/18 | - |
8-19815189-C-T | LPL | c.1019-1582C>T | - | IntronicSNV | - | 6/9 |
19-11224107-CC-AA | LDLR | c.1340_1341delCCinsAA | p.S447* | Nonsense | 9/18 | - |
8-19805708-G-C | LPL | c.106G>C | p.D36H | Missense | 2/10 | - |
11-117532543-A-G | DSCAML1 | c.511+114963T>C | - | intron_variant | - | 3/32 |