Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
19-11224041-A-G | LDLR | c.1274A>G | p.Asn425Ser | Missense | 9/18 | - |
1-55518381-C-A | PCSK9 | c.716C>A | p.Ala239Asp | Missense | 5/12 | - |
1-55518007-CG-GC | PCSK9 | c.580_581delCGinsGC | p.Arg194Ala | Missense | 4/12 | - |
X-15612990-A-C | ACE2 | c.323T>G | p.Leu108Arg | Missense | 3/19 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
1-55509693-G-A | PCSK9 | c.385G>A | p.Asp129Asn | Missense | 2/12 | - |
1-55529048-G-A | PCSK9 | c.1870G>A | p.Val624Met | Missense | 12/12 | - |
1-55505604-G-A | PCSK9 | c.94G>A | p.Glu32Lys | Missense | 1/12 | - |
1-55525195-G-A | PCSK9 | c.1540G>A | p.Ala514Thr | Missense | 10/12 | - |
1-55525219-G-A | PCSK9 | c.1564G>A | p.Ala522Thr | Missense | 10/12 | - |
1-55524303-C-T | PCSK9 | c.1486C>T | p.Arg496Trp | Missense | 9/12 | - |
1-55509694-A-G | PCSK9 | c.386A>G | p.Asp129Gly | Missense | 2/12 | - |
1-55509585-C-T | PCSK9 | c.277C>T | p.Arg93Cys | Missense | 2/12 | - |
1-55523068-A-T | PCSK9 | c.1061A>T | p.Asn354Ile | Missense | 7/12 | - |
1-55523077-G-A | PCSK9 | c.1070G>A | p.Arg357His | Missense | 7/12 | - |
1-55523142-TT-GC | PCSK9 | c.1135_1136delTTinsGC | p.Phe379Ala | Missense | 7/12 | - |
1-55524222-C-T | PCSK9 | c.1405C>T | p.Arg469Trp | Missense | 9/12 | - |
1-55518371-G-A | PCSK9 | c.706G>A | p.Gly236Ser | Missense | 5/12 | - |
1-55525313-A-G | PCSK9 | c.1658A>G | p.His553Arg | Missense | 10/12 | - |
19-11216226-G-A | LDLR | c.644G>A | p.Arg215His | Missense | 4/18 | - |
1-55505671-A-C | PCSK9 | c.161A>C | p.Glu54Ala | Missense | 1/12 | - |
1-55523178-C-A | PCSK9 | c.1171C>A | p.His391Asn | Missense | 7/12 | - |
1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |
1-55524172-G-A | PCSK9 | c.1355G>A | p.Gly452Asp | Missense | 9/12 | - |
1-55523828-C-T | PCSK9 | c.1300C>T | p.Arg434Trp | Missense | 8/12 | - |
1-241671928-T-G | FH | c.713A>C | p.Asp238Ala | Missense | 5/10 | - |
1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |