Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55524197-A-G | PCSK9 | c.1380A>G | p.Val460Val | Synonymous | 9/12 | - |
1-55524197-A-C | PCSK9 | c.1380A>C | p.Val460Val | Synonymous | 9/12 | - |
1-55505668-C-G | PCSK9 | c.158C>G | p.Ala53Gly | Missense | 1/12 | - |
2-21250758-T-C | APOB | c.2009A>G | p.Glu670Gly | Missense | 14/29 | - |
1-55513521-C-G | PCSK9 | c.523+1202C>G | - | IntronicSNV | - | 3/11 |
1-55513521-C-A | PCSK9 | c.523+1202C>A | - | IntronicSNV | - | 3/11 |
1-55520864-A-G | PCSK9 | c.800-802A>G | - | IntronicSNV | - | 5/11 |
1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
1-55509213-G-C | PCSK9 | c.208-303G>C | - | IntronicSNV | - | 1/11 |
1-55509213-G-A | PCSK9 | c.208-303G>A | - | IntronicSNV | - | 1/11 |
1-55517344-C-G | PCSK9 | c.524-607C>G | - | IntronicSNV | - | 3/11 |
1-55518752-C-T | PCSK9 | c.799+288C>T | - | IntronicSNV | - | 5/11 |
1-55525400-G-A | PCSK9 | c.1681+64G>A | - | IntronicSNV | - | 10/11 |
1-55516004-C-A | PCSK9 | c.524-1947C>A | - | IntronicSNV | - | 3/11 |
1-55517344-C-T | PCSK9 | c.524-607C>T | - | IntronicSNV | - | 3/11 |
1-55512549-T-C | PCSK9 | c.523+230T>C | - | IntronicSNV | - | 3/11 |
1-55512549-T-A | PCSK9 | c.523+230T>A | - | IntronicSNV | - | 3/11 |
1-55509872-T-C | PCSK9 | c.399+165T>C | - | IntronicSNV | - | 2/11 |
1-55523828-C-T | PCSK9 | c.1300C>T | p.Arg434Trp | Missense | 8/12 | - |
1-55521109-G-C | PCSK9 | c.800-557G>C | - | IntronicSNV | - | 5/11 |
1-55505668-C-T | PCSK9 | c.158C>T | p.Ala53Val | Missense | 1/12 | - |
1-55521109-G-A | PCSK9 | c.800-557G>A | - | IntronicSNV | - | 5/11 |
1-55524237-G-A | PCSK9 | c.1420G>A | p.Val474Ile | Missense | 9/12 | - |
1-55525315-C-A | PCSK9 | c.1660C>A | p.Gln554Lys | Missense | 10/12 | - |
1-55525315-C-G | PCSK9 | c.1660C>G | p.Gln554Glu | Missense | 10/12 | - |
1-55528807-G-C | PCSK9 | c.1864-235G>C | - | IntronicSNV | - | 11/11 |
1-55518682-C-T | PCSK9 | c.799+218C>T | - | IntronicSNV | - | 5/11 |