Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55523855-G-A | PCSK9 | c.1327G>A | p.Ala443Thr | Missense | 8/12 | - |
1-55509585-C-T | PCSK9 | c.277C>T | p.Arg93Cys | Missense | 2/12 | - |
1-55518422-C-T | PCSK9 | c.757C>T | p.Leu253Phe | Missense | 5/12 | - |
1-55521701-C-G | PCSK9 | c.835C>G | p.Pro279Ala | Missense | 6/12 | - |
1-55509594-C-T | PCSK9 | c.286C>T | p.Arg96Cys | Missense | 2/12 | - |
1-55523178-C-A | PCSK9 | c.1171C>A | p.His391Asn | Missense | 7/12 | - |
1-55525313-A-G | PCSK9 | c.1658A>G | p.His553Arg | Missense | 10/12 | - |
1-55527222-A-C | PCSK9 | c.1856A>C | p.Gln619Pro | Missense | 11/12 | - |
1-55527222-A-T | PCSK9 | c.1856A>T | p.Gln619Leu | Missense | 11/12 | - |
1-55524222-C-T | PCSK9 | c.1405C>T | p.Arg469Trp | Missense | 9/12 | - |
19-8434123-G-C | ANGPTL4 | c.568G>C | p.Glu190Gln | Missense | 4/7 | - |
1-55529153-C-G | PCSK9 | c.1975C>G | p.Arg659Gly | Missense | 12/12 | - |
1-55529153-C-T | PCSK9 | c.1975C>T | p.Arg659Trp | Missense | 12/12 | - |
1-55523802-A-G | PCSK9 | c.1274A>G | p.Asn425Ser | Missense | 8/12 | - |
1-55518419-G-C | PCSK9 | c.754G>C | p.Val252Leu | Missense | 5/12 | - |
1-55512267-C-A | PCSK9 | c.471C>A | p.Asn157Lys | Missense | 3/12 | - |
1-55524214-G-A | PCSK9 | c.1397G>A | p.Gly466Glu | Missense | 9/12 | - |
1-55521701-C-A | PCSK9 | c.835C>A | p.Pro279Thr | Missense | 6/12 | - |
1-55525315-C-A | PCSK9 | c.1660C>A | p.Gln554Lys | Missense | 10/12 | - |
1-55525229-G-C | PCSK9 | c.1574G>C | p.Arg525Thr | Missense | 10/12 | - |
1-55518419-G-A | PCSK9 | c.754G>A | p.Val252Met | Missense | 5/12 | - |
1-55525315-C-G | PCSK9 | c.1660C>G | p.Gln554Glu | Missense | 10/12 | - |
1-55523779-C-A | PCSK9 | c.1251C>A | p.His417Gln | Missense | 8/12 | - |
1-55524309-G-A | PCSK9 | c.1492G>A | p.Glu498Lys | Missense | 9/12 | - |
19-11224041-A-G | LDLR | c.1274A>G | p.Asn425Ser | Missense | 9/18 | - |
1-55521713-C-A | PCSK9 | c.847C>A | p.Leu283Met | Missense | 6/12 | - |