Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
19-11224296-G-A | LDLR | c.1444G>A | p.Asp482Asn | Missense | 10/18 | - |
19-11227560-G-A | LDLR | c.1731G>A | p.Trp577* | Nonsense | 12/18 | - |
19-11231057-T-C | LDLR | c.1999T>C | p.Cys667Arg | Missense | 14/18 | - |
1-55524244-G-A | PCSK9 | c.1427G>A | p.Arg476His | Missense | 9/12 | - |
19-11231154-C-T | LDLR | c.2096C>T | p.Pro699Leu | Missense | 14/18 | - |
19-45397229-G-A | TOMM40 | c.549G>A | p.Ser183Ser | Synonymous | 6/10 | - |
1-55524313-G-T | PCSK9 | c.1496G>T | p.Arg499Leu | Missense | 9/12 | - |
1-55524304-G-A | PCSK9 | c.1487G>A | p.Arg496Gln | Missense | 9/12 | - |
2-21233500-A-T | APOB | c.6240T>A | p.Tyr2080* | Nonsense | 26/29 | - |
1-55518422-C-T | PCSK9 | c.757C>T | p.Leu253Phe | Missense | 5/12 | - |
19-11224228-C-G | LDLR | c.1376C>G | p.Ala459Gly | Missense | 10/18 | - |
19-11240240-G-A | LDLR | c.2441G>A | p.Arg814Gln | Missense | 17/18 | - |
2-21235237-A-C | APOB | c.4503T>G | p.Tyr1501* | Nonsense | 26/29 | - |
19-11233961-G-A | LDLR | c.2252G>A | p.Arg751Gln | Missense | 15/18 | - |
19-11200282-G-A | LDLR | c.58G>A | p.Gly20Arg | Missense | 1/18 | - |
19-11231159-G-A | LDLR | c.2101G>A | p.Gly701Ser | Missense | 14/18 | - |
19-11234010-G-A | LDLR | c.2301G>A | p.Met767Ile | Missense | 15/18 | - |
22-44287586-C-T | PNPLA5 | c.175G>A | p.Val59Ile | Missense | 1/9 | - |
22-44287109-G-T | PNPLA5 | c.259C>A | p.His87Asn | Missense | 2/9 | - |
1-55512275-G-A | PCSK9 | c.479G>A | p.Arg160Gln | Missense | 3/12 | - |
1-55523855-G-A | PCSK9 | c.1327G>A | p.Ala443Thr | Missense | 8/12 | - |
1-55524262-A-G | PCSK9 | c.1445A>G | p.Glu482Gly | Missense | 9/12 | - |
19-11227600-A-G | LDLR | c.1771A>G | p.Asn591Asp | Missense | 12/18 | - |
1-55509527-G-T | PCSK9 | c.219G>T | p.Arg73Ser | Missense | 2/12 | - |
1-55509585-C-T | PCSK9 | c.277C>T | p.Arg93Cys | Missense | 2/12 | - |
19-11218079-G-A | LDLR | c.829G>A | p.Glu277Lys | Missense | 6/18 | - |
1-55509527-G-C | PCSK9 | c.219G>C | p.Arg73Ser | Missense | 2/12 | - |
19-11224284-G-A | LDLR | c.1432G>A | p.Gly478Arg | Missense | 10/18 | - |
19-11218068-T-G | LDLR | c.818T>G | p.Val273Gly | Missense | 6/18 | - |
19-11231112-C-T | LDLR | c.2054C>T | p.Pro685Leu | Missense | 14/18 | - |
1-55525298-C-A | PCSK9 | c.1643C>A | p.Thr548Asn | Missense | 10/12 | - |
19-11224037-C-A | LDLR | c.1270C>A | p.Pro424Thr | Missense | 9/18 | - |
19-11238692-G-A | LDLR | c.2320G>A | p.Asp774Asn | Missense | 16/18 | - |
19-11216172-G-T | LDLR | c.590G>T | p.Cys197Phe | Missense | 4/18 | - |
1-55523178-C-A | PCSK9 | c.1171C>A | p.His391Asn | 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 | - |
2-21235237-A-T | APOB | c.4503T>A | p.Tyr1501* | Nonsense | 26/29 | - |
19-11216011-C-A | LDLR | c.429C>A | p.Cys143* | Nonsense | 4/18 | - |
22-44285723-A-G | PNPLA5 | c.448T>C | p.Phe150Leu | Missense | 3/9 | - |
22-44285417-C-T | PNPLA5 | c.494G>A | p.Arg165His | Missense | 4/9 | - |
19-11230798-G-A | LDLR | c.1876G>A | p.Glu626Lys | Missense | 13/18 | - |
1-55512266-A-G | PCSK9 | c.470A>G | p.Asn157Ser | Missense | 3/12 | - |
1-55529159-G-A | PCSK9 | c.1981G>A | p.Val661Ile | Missense | 12/12 | - |
19-11234010-G-T | LDLR | c.2301G>T | p.Met767Ile | Missense | 15/18 | - |
2-21255263-G-A | APOB | c.1315C>T | p.Arg439* | Nonsense | 10/29 | - |
19-11240278-G-A | LDLR | c.2479G>A | p.Val827Ile | Missense | 17/18 | - |
1-55525313-A-G | PCSK9 | c.1658A>G | p.His553Arg | Missense | 10/12 | - |
1-55518362-G-C | PCSK9 | c.697G>C | p.Val233Leu | Missense | 5/12 | - |
1-55518362-G-T | PCSK9 | c.697G>T | p.Val233Leu | Missense | 5/12 | - |
1-55518386-G-A | PCSK9 | c.721G>A | p.Val241Met | Missense | 5/12 | - |
2-21233706-G-A | APOB | c.6034C>T | p.Arg2012* | Nonsense | 26/29 | - |
1-55527222-A-C | PCSK9 | c.1856A>C | p.Gln619Pro | Missense | 11/12 | - |
1-55505679-G-A | PCSK9 | c.169G>A | p.Glu57Lys | Missense | 1/12 | - |
1-55524249-G-A | PCSK9 | c.1432G>A | p.Ala478Thr | Missense | 9/12 | - |
19-11216264-G-C | LDLR | c.682G>C | p.Glu228Gln | Missense | 4/18 | - |
19-11224398-G-A | LDLR | c.1546G>A | p.Gly516Ser | Missense | 10/18 | - |
2-21228340-A-T | APOB | c.11400T>A | p.Tyr3800* | Nonsense | 26/29 | - |
1-55523802-A-G | PCSK9 | c.1274A>G | p.Asn425Ser | Missense | 8/12 | - |
22-44287165-C-A | PNPLA5 | c.203G>T | p.Cys68Phe | Missense | 2/9 | - |
19-11222295-C-T | LDLR | c.1166C>T | p.Thr389Met | Missense | 8/18 | - |
2-21249659-C-T | APOB | c.2244+1G>A | - | IntronicSNV | - | 15/28 |
1-55529123-G-A | PCSK9 | c.1945G>A | p.Ala649Thr | Missense | 12/12 | - |
22-44287051-G-A | PNPLA5 | c.317C>T | p.Pro106Leu | Missense | 2/9 | - |
2-21237384-C-A | APOB | c.3778G>T | p.Glu1260* | Nonsense | 24/29 | - |
19-11227604-G-A | LDLR | c.1775G>A | p.Gly592Glu | Missense | 12/18 | - |
19-11223968-C-G | LDLR | c.1201C>G | p.Leu401Val | Missense | 9/18 | - |
1-55518417-G-A | PCSK9 | c.752G>A | p.Arg251His | Missense | 5/12 | - |
19-11221354-G-A | LDLR | c.967G>A | p.Gly323Ser | Missense | 7/18 | - |
2-21237944-C-G | APOB | c.3696+1G>C | - | IntronicSNV | - | 23/28 |
19-11213450-G-A | LDLR | c.301G>A | p.Glu101Lys | Missense | 3/18 | - |
19-11217256-G-A | LDLR | c.710G>A | p.Arg237His | Missense | 5/18 | - |
19-11216090-G-A | LDLR | c.508G>A | p.Asp170Asn | Missense | 4/18 | - |
19-11217304-G-A | LDLR | c.758G>A | p.Arg253Gln | Missense | 5/18 | - |
19-11210979-G-T | LDLR | c.148G>T | p.Ala50Ser | Missense | 2/18 | - |
19-11218157-C-T | LDLR | c.907C>T | p.Arg303Trp | Missense | 6/18 | - |
19-11211016-C-T | LDLR | c.185C>T | p.Thr62Met | Missense | 2/18 | - |
22-44287083-G-C | PNPLA5 | c.285C>G | p.His95Gln | Missense | 2/9 | - |
19-11234014-C-T | LDLR | c.2305C>T | p.His769Tyr | Missense | 15/18 | - |
22-44287083-G-T | PNPLA5 | c.285C>A | p.His95Gln | Missense | 2/9 | - |
2-21228099-G-A | APOB | c.11641C>T | p.Gln3881* | Nonsense | 26/29 | - |
1-55512267-C-A | PCSK9 | c.471C>A | p.Asn157Lys | Missense | 3/12 | - |
22-44285379-C-T | PNPLA5 | c.532G>A | p.Ala178Thr | Missense | 4/9 | - |
2-21249731-G-A | APOB | c.2173C>T | p.Gln725* | Nonsense | 15/29 | - |
19-11217303-C-T | LDLR | c.757C>T | p.Arg253Trp | Missense | 5/18 | - |
1-55525301-G-A | PCSK9 | c.1646G>A | p.Arg549His | Missense | 10/12 | - |
1-55512222-C-G | PCSK9 | c.426C>G | p.Tyr142* | Nonsense | 3/12 | - |
1-55523739-C-T | PCSK9 | c.1211C>T | p.Pro404Leu | Missense | 8/12 | - |
19-11218160-G-A | LDLR | c.910G>A | p.Asp304Asn | Missense | 6/18 | - |
1-55523076-C-T | PCSK9 | c.1069C>T | p.Arg357Cys | Missense | 7/12 | - |
1-55529153-C-T | PCSK9 | c.1975C>T | p.Arg659Trp | Missense | 12/12 | - |
1-55509625-G-T | PCSK9 | c.317G>T | p.Gly106Val | Missense | 2/12 | - |
19-11222214-A-C | LDLR | c.1085A>C | p.Asp362Ala | Missense | 8/18 | - |
1-55527221-C-T | PCSK9 | c.1855C>T | p.Gln619* | Nonsense | 11/12 | - |
22-44287133-C-A | PNPLA5 | c.235G>T | p.Glu79* | Nonsense | 2/9 | - |
1-55529169-C-T | PCSK9 | c.1991C>T | p.Thr664Ile | Missense | 12/12 | - |
19-11223991-G-T | LDLR | c.1224G>T | p.Glu408Asp | Missense | 9/18 | - |
19-11240345-C-T | LDLR | c.2546C>T | p.Ser849Leu | Missense | 17/18 | - |
19-11223991-G-C | LDLR | c.1224G>C | p.Glu408Asp | Missense | 9/18 | - |
1-55523838-C-A | PCSK9 | c.1310C>A | p.Thr437Asn | Missense | 8/12 | - |
1-55521701-C-A | PCSK9 | c.835C>A | p.Pro279Thr | Missense | 6/12 | - |
1-55523822-G-A | PCSK9 | c.1294G>A | p.Asp432Asn | Missense | 8/12 | - |
22-44287071-C-G | PNPLA5 | c.297G>C | p.Gln99His | Missense | 2/9 | - |
22-44287071-C-A | PNPLA5 | c.297G>T | p.Gln99His | Missense | 2/9 | - |
19-11217334-A-G | LDLR | c.788A>G | p.Asp263Gly | Missense | 5/18 | - |
19-11238684-C-T | LDLR | c.2312C>T | p.Ala771Val | Missense | 16/18 | - |
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 | - |
19-11227645-G-T | LDLR | c.1816G>T | p.Ala606Ser | Missense | 12/18 | - |
19-11234010-G-C | LDLR | c.2301G>C | p.Met767Ile | Missense | 15/18 | - |
2-21228340-A-C | APOB | c.11400T>G | p.Tyr3800* | Nonsense | 26/29 | - |
22-44282210-C-T | PNPLA5 | c.922G>A | p.Glu308Lys | Missense | 6/9 | - |
1-55523106-G-T | PCSK9 | c.1099G>T | p.Asp367Tyr | Missense | 7/12 | - |
1-55525276-C-T | PCSK9 | c.1621C>T | p.Pro541Ser | Missense | 10/12 | - |
19-11240309-A-G | LDLR | c.2510A>G | p.His837Arg | Missense | 17/18 | - |
1-55523779-C-A | PCSK9 | c.1251C>A | p.His417Gln | Missense | 8/12 | - |
19-11217328-G-T | LDLR | c.782G>T | p.Cys261Phe | Missense | 5/18 | - |
1-55517960-G-A | PCSK9 | c.533G>A | p.Ser178Asn | Missense | 4/12 | - |
1-55512295-C-T | PCSK9 | c.499C>T | p.Arg167Trp | Missense | 3/12 | - |
2-21235089-G-A | APOB | c.4651C>T | p.Gln1551* | Nonsense | 26/29 | - |
1-55509618-C-T | PCSK9 | c.310C>T | p.Arg104Cys | Missense | 2/12 | - |
19-11241984-G-A | LDLR | c.2575G>A | p.Val859Met | Missense | 18/18 | - |
1-55524309-G-A | PCSK9 | c.1492G>A | p.Glu498Lys | Missense | 9/12 | - |
1-55518374-C-T | PCSK9 | c.709C>T | p.Arg237Trp | Missense | 5/12 | - |
19-11217344-T-A | LDLR | c.798T>A | p.Asp266Glu | Missense | 5/18 | - |
19-11231199-G-A | LDLR | c.2140+1G>A | - | IntronicSNV | - | 14/17 |
19-11231164-G-A | LDLR | c.2106G>A | p.Met702Ile | Missense | 14/18 | - |
22-44285418-G-A | PNPLA5 | c.493C>T | p.Arg165Cys | Missense | 4/9 | - |
1-55521713-C-A | PCSK9 | c.847C>A | p.Leu283Met | Missense | 6/12 | - |
19-11217352-G-A | LDLR | c.806G>A | p.Gly269Asp | Missense | 5/18 | - |
19-11227559-G-A | LDLR | c.1730G>A | p.Trp577* | Nonsense | 12/18 | - |
1-55529108-G-A | PCSK9 | c.1930G>A | p.Val644Ile | Missense | 12/12 | - |
1-55509522-T-G | PCSK9 | c.214T>G | p.Trp72Gly | Missense | 2/12 | - |
1-55517953-G-C | PCSK9 | c.526G>C | p.Gly176Arg | Missense | 4/12 | - |
1-55517953-G-A | PCSK9 | c.526G>A | p.Gly176Arg | Missense | 4/12 | - |
1-55523187-G-A | PCSK9 | c.1180G>A | p.Gly394Ser | Missense | 7/12 | - |