Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
2-21228960-A-G | APOB | c.10780T>C | p.W3594R | Missense | 26/29 | - |
1-55509693-G-A | PCSK9 | c.385G>A | p.D129N | Missense | 2/12 | - |
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 | - |
1-55518073-T-C | PCSK9 | c.646T>C | p.F216L | Missense | 4/12 | - |
1-55518075-C-A | PCSK9 | c.648C>A | p.F216L | Missense | 4/12 | - |
1-55518075-C-G | PCSK9 | c.648C>G | p.F216L | Missense | 4/12 | - |
19-11210926-T-C | LDLR | c.95T>C | p.F32S | Missense | 2/18 | - |
19-11221421-A-C | LDLR | c.1034A>C | p.Q345P | Missense | 7/18 | - |
19-11224219-T-C | LDLR | c.1367T>C | p.L456P | Missense | 10/18 | - |
19-11222207-G-C | LDLR | c.1078G>C | p.D360H | Missense | 8/18 | - |
19-11217281-T-G | LDLR | c.735T>G | p.D245E | Missense | 5/18 | - |
19-11217281-T-A | LDLR | c.735T>A | p.D245E | Missense | 5/18 | - |