Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
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 | - |
1-55529187-G-A | PCSK9 | c.2009G>A | p.G670E | Missense | 12/12 | - |
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 | - |
1-55509694-A-G | PCSK9 | c.386A>G | p.D129G | Missense | 2/12 | - |
1-55505604-G-A | PCSK9 | c.94G>A | p.E32K | Missense | 1/12 | - |
1-55518081-A-C | PCSK9 | c.654A>C | p.R218S | Missense | 4/12 | - |
1-55518081-A-T | PCSK9 | c.654A>T | p.R218S | Missense | 4/12 | - |
1-55524303-C-T | PCSK9 | c.1486C>T | p.R496W | Missense | 9/12 | - |
1-55518071-G-A | PCSK9 | c.644G>A | p.R215H | Missense | 4/12 | - |
1-55521784-G-C | PCSK9 | c.918G>C | p.R306S | Missense | 6/12 | - |
1-55521784-G-T | PCSK9 | c.918G>T | p.R306S | Missense | 6/12 | - |
1-55509693-G-A | PCSK9 | c.385G>A | p.D129N | Missense | 2/12 | - |
2-27447977-C-T | CAD | c.1486C>T | p.R496W | Missense | 11/44 | - |