Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.55059556G>A | CA340479884 | PCSK9 | c.1574G>A (p.Arg525Lys) c.1931G>A (p.Arg644Lys) c.1199G>A (p.Arg400Lys) c.314G>A (p.Arg105Lys) n.2227+909G>A n.1181G>A c.695G>A (p.Arg232Lys) | ClinVar gnomAD v4 |
1 | g.55059556G>C | CA22765571 | PCSK9 | c.1574G>C (p.Arg525Thr) c.1931G>C (p.Arg644Thr) c.1199G>C (p.Arg400Thr) c.314G>C (p.Arg105Thr) n.2227+909G>C n.1181G>C c.695G>C (p.Arg232Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55059556G= | CA1141732630 | PCSK9 | c.1574G= (p.Arg525=) c.1931G= (p.Arg644=) c.1199G= (p.Arg400=) c.314G= (p.Arg105=) n.2227+909G= n.1181G= c.695G= (p.Arg232=) | |
1 | g.55059556G>T | CA340479886 | PCSK9 | c.1574G>T (p.Arg525Met) c.1931G>T (p.Arg644Met) c.1199G>T (p.Arg400Met) c.314G>T (p.Arg105Met) n.2227+909G>T n.1181G>T c.695G>T (p.Arg232Met) | gnomAD v4 |
1 | g.55059557G>A | CA417960403 | PCSK9 | c.1575G>A (p.Arg525=) c.1932G>A (p.Arg644=) c.1200G>A (p.Arg400=) c.315G>A (p.Arg105=) n.2227+910G>A n.1182G>A c.696G>A (p.Arg232=) | ClinVar dbSNP gnomAD v4 |
1 | g.55059557G>C | CA340479888 | PCSK9 | c.1575G>C (p.Arg525Ser) c.1932G>C (p.Arg644Ser) c.1200G>C (p.Arg400Ser) c.315G>C (p.Arg105Ser) n.2227+910G>C n.1182G>C c.696G>C (p.Arg232Ser) | gnomAD v4 |
1 | g.55059557G>T | CA340479890 | PCSK9 | c.1575G>T (p.Arg525Ser) c.1932G>T (p.Arg644Ser) c.1200G>T (p.Arg400Ser) c.315G>T (p.Arg105Ser) n.2227+910G>T n.1182G>T c.696G>T (p.Arg232Ser) | gnomAD v4 |
1 | g.55059558T>A | CA340479892 | PCSK9 | c.1576T>A (p.Cys526Ser) c.1933T>A (p.Cys645Ser) c.1201T>A (p.Cys401Ser) c.316T>A (p.Cys106Ser) n.2227+911T>A n.1183T>A c.697T>A (p.Cys233Ser) | |
1 | g.55059558T>C | CA340479894 | PCSK9 | c.1576T>C (p.Cys526Arg) c.1933T>C (p.Cys645Arg) c.1201T>C (p.Cys401Arg) c.316T>C (p.Cys106Arg) n.2227+911T>C n.1183T>C c.697T>C (p.Cys233Arg) | gnomAD v4 |
1 | g.55059558T>G | CA340479896 | PCSK9 | c.1576T>G (p.Cys526Gly) c.1933T>G (p.Cys645Gly) c.1201T>G (p.Cys401Gly) c.316T>G (p.Cys106Gly) n.2227+911T>G n.1183T>G c.697T>G (p.Cys233Gly) | |
1 | g.55059559G>A | CA340479898 | PCSK9 | c.1577G>A (p.Cys526Tyr) c.1934G>A (p.Cys645Tyr) c.1202G>A (p.Cys401Tyr) c.317G>A (p.Cys106Tyr) n.2227+912G>A n.1184G>A c.698G>A (p.Cys233Tyr) | gnomAD v4 |
1 | g.55059559G>C | CA340479902 | PCSK9 | c.1577G>C (p.Cys526Ser) c.1934G>C (p.Cys645Ser) c.1202G>C (p.Cys401Ser) c.317G>C (p.Cys106Ser) n.2227+912G>C n.1184G>C c.698G>C (p.Cys233Ser) | |
1 | g.55059559G>T | CA340479900 | PCSK9 | c.1577G>T (p.Cys526Phe) c.1934G>T (p.Cys645Phe) c.1202G>T (p.Cys401Phe) c.317G>T (p.Cys106Phe) n.2227+912G>T n.1184G>T c.698G>T (p.Cys233Phe) | gnomAD v4 |
1 | g.55059560C>A | CA340479904 | PCSK9 | c.1578C>A (p.Cys526Ter) c.1935C>A (p.Cys645Ter) c.1203C>A (p.Cys401Ter) c.318C>A (p.Cys106Ter) n.2227+913C>A n.1185C>A c.699C>A (p.Cys233Ter) | gnomAD v4 |
1 | g.55059560C= | CA1167984910 | PCSK9 | c.1578C= (p.Cys526=) c.1935C= (p.Cys645=) c.1203C= (p.Cys401=) c.318C= (p.Cys106=) n.2227+913C= n.1185C= c.699C= (p.Cys233=) | |
1 | g.55059560C>G | CA340479905 | PCSK9 | c.1578C>G (p.Cys526Trp) c.1935C>G (p.Cys645Trp) c.1203C>G (p.Cys401Trp) c.318C>G (p.Cys106Trp) n.2227+913C>G n.1185C>G c.699C>G (p.Cys233Trp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55059560C>T | CA417960404 | PCSK9 | c.1578C>T (p.Cys526=) c.1935C>T (p.Cys645=) c.1203C>T (p.Cys401=) c.318C>T (p.Cys106=) n.2227+913C>T n.1185C>T c.699C>T (p.Cys233=) | gnomAD v4 |
1 | g.55059561T>A | CA340479906 | PCSK9 | c.1579T>A (p.Cys527Ser) c.1936T>A (p.Cys646Ser) c.1204T>A (p.Cys402Ser) c.319T>A (p.Cys107Ser) n.2227+914T>A n.1186T>A c.700T>A (p.Cys234Ser) | |
1 | g.55059561T>C | CA340479907 | PCSK9 | c.1579T>C (p.Cys527Arg) c.1936T>C (p.Cys646Arg) c.1204T>C (p.Cys402Arg) c.319T>C (p.Cys107Arg) n.2227+914T>C n.1186T>C c.700T>C (p.Cys234Arg) | |
1 | g.55059561T>G | CA340479908 | PCSK9 | c.1579T>G (p.Cys527Gly) c.1936T>G (p.Cys646Gly) c.1204T>G (p.Cys402Gly) c.319T>G (p.Cys107Gly) n.2227+914T>G n.1186T>G c.700T>G (p.Cys234Gly) | gnomAD v4 |
1 | g.55059562G>A | CA340479909 | PCSK9 | c.1580G>A (p.Cys527Tyr) c.1937G>A (p.Cys646Tyr) c.1205G>A (p.Cys402Tyr) c.320G>A (p.Cys107Tyr) n.2227+915G>A n.1187G>A c.701G>A (p.Cys234Tyr) | |
1 | g.55059562G>C | CA340479910 | PCSK9 | c.1580G>C (p.Cys527Ser) c.1937G>C (p.Cys646Ser) c.1205G>C (p.Cys402Ser) c.320G>C (p.Cys107Ser) n.2227+915G>C n.1187G>C c.701G>C (p.Cys234Ser) | |
1 | g.55059562G>T | CA340479911 | PCSK9 | c.1580G>T (p.Cys527Phe) c.1937G>T (p.Cys646Phe) c.1205G>T (p.Cys402Phe) c.320G>T (p.Cys107Phe) n.2227+915G>T n.1187G>T c.701G>T (p.Cys234Phe) | gnomAD v4 |
1 | g.55059563C>A | CA340479912 | PCSK9 | c.1581C>A (p.Cys527Ter) c.1938C>A (p.Cys646Ter) c.1206C>A (p.Cys402Ter) c.321C>A (p.Cys107Ter) n.2227+916C>A n.1188C>A c.702C>A (p.Cys234Ter) | gnomAD v4 |
1 | g.55059563C>G | CA340479913 | PCSK9 | c.1581C>G (p.Cys527Trp) c.1938C>G (p.Cys646Trp) c.1206C>G (p.Cys402Trp) c.321C>G (p.Cys107Trp) n.2227+916C>G n.1188C>G c.702C>G (p.Cys234Trp) | |
1 | g.55059563C>T | CA417960405 | PCSK9 | c.1581C>T (p.Cys527=) c.1938C>T (p.Cys646=) c.1206C>T (p.Cys402=) c.321C>T (p.Cys107=) n.2227+916C>T n.1188C>T c.702C>T (p.Cys234=) | gnomAD v4 |
1 | g.55059564C>A | CA340479915 | PCSK9 | c.1582C>A (p.Leu528Met) c.1939C>A (p.Leu647Met) c.1207C>A (p.Leu403Met) c.322C>A (p.Leu108Met) n.2227+917C>A n.1189C>A c.703C>A (p.Leu235Met) | |
1 | g.55059564C= | CA1167984911 | PCSK9 | c.1582C= (p.Leu528=) c.1939C= (p.Leu647=) c.1207C= (p.Leu403=) c.322C= (p.Leu108=) n.2227+917C= n.1189C= c.703C= (p.Leu235=) | |
1 | g.55059564C>G | CA340479914 | PCSK9 | c.1582C>G (p.Leu528Val) c.1939C>G (p.Leu647Val) c.1207C>G (p.Leu403Val) c.322C>G (p.Leu108Val) n.2227+917C>G n.1189C>G c.703C>G (p.Leu235Val) | |
1 | g.55059564C>T | CA22765577 | PCSK9 | c.1582C>T (p.Leu528=) c.1939C>T (p.Leu647=) c.1207C>T (p.Leu403=) c.322C>T (p.Leu108=) n.2227+917C>T n.1189C>T c.703C>T (p.Leu235=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.55059565T>A | CA340479916 | PCSK9 | c.1583T>A (p.Leu528Gln) c.1940T>A (p.Leu647Gln) c.1208T>A (p.Leu403Gln) c.323T>A (p.Leu108Gln) n.2227+918T>A n.1190T>A c.704T>A (p.Leu235Gln) | |
1 | g.55059565T>C | CA340479917 | PCSK9 | c.1583T>C (p.Leu528Pro) c.1940T>C (p.Leu647Pro) c.1208T>C (p.Leu403Pro) c.323T>C (p.Leu108Pro) n.2227+918T>C n.1190T>C c.704T>C (p.Leu235Pro) | gnomAD v4 |
1 | g.55059565T>G | CA340479918 | PCSK9 | c.1583T>G (p.Leu528Arg) c.1940T>G (p.Leu647Arg) c.1208T>G (p.Leu403Arg) c.323T>G (p.Leu108Arg) n.2227+918T>G n.1190T>G c.704T>G (p.Leu235Arg) | |
1 | g.55059566G>A | CA417960406 | PCSK9 | c.1584G>A (p.Leu528=) c.1941G>A (p.Leu647=) c.1209G>A (p.Leu403=) c.324G>A (p.Leu108=) n.2227+919G>A n.1191G>A c.705G>A (p.Leu235=) | dbSNP gnomAD v4 |
1 | g.55059566G>C | CA417960407 | PCSK9 | c.1584G>C (p.Leu528=) c.1941G>C (p.Leu647=) c.1209G>C (p.Leu403=) c.324G>C (p.Leu108=) n.2227+919G>C n.1191G>C c.705G>C (p.Leu235=) | |
1 | g.55059566G= | CA1167984912 | PCSK9 | c.1584G= (p.Leu528=) c.1941G= (p.Leu647=) c.1209G= (p.Leu403=) c.324G= (p.Leu108=) n.2227+919G= n.1191G= c.705G= (p.Leu235=) | |
1 | g.55059566G>T | CA417960408 | PCSK9 | c.1584G>T (p.Leu528=) c.1941G>T (p.Leu647=) c.1209G>T (p.Leu403=) c.324G>T (p.Leu108=) n.2227+919G>T n.1191G>T c.705G>T (p.Leu235=) | gnomAD v4 |
1 | g.55059567C>A | CA340479919 | PCSK9 | c.1585C>A (p.Leu529Ile) c.1942C>A (p.Leu648Ile) c.1210C>A (p.Leu404Ile) c.325C>A (p.Leu109Ile) n.2227+920C>A n.1192C>A c.706C>A (p.Leu236Ile) | |
1 | g.55059567C>G | CA340479920 | PCSK9 | c.1585C>G (p.Leu529Val) c.1942C>G (p.Leu648Val) c.1210C>G (p.Leu404Val) c.325C>G (p.Leu109Val) n.2227+920C>G n.1192C>G c.706C>G (p.Leu236Val) | |
1 | g.55059567C>T | CA417960409 | PCSK9 | c.1585C>T (p.Leu529=) c.1942C>T (p.Leu648=) c.1210C>T (p.Leu404=) c.325C>T (p.Leu109=) n.2227+920C>T n.1192C>T c.706C>T (p.Leu236=) | gnomAD v4 |
1 | g.55059568T>A | CA340479923 | PCSK9 | c.1586T>A (p.Leu529Gln) c.1943T>A (p.Leu648Gln) c.1211T>A (p.Leu404Gln) c.326T>A (p.Leu109Gln) n.2227+921T>A n.1193T>A c.707T>A (p.Leu236Gln) | |
1 | g.55059568T>C | CA340479922 | PCSK9 | c.1586T>C (p.Leu529Pro) c.1943T>C (p.Leu648Pro) c.1211T>C (p.Leu404Pro) c.326T>C (p.Leu109Pro) n.2227+921T>C n.1193T>C c.707T>C (p.Leu236Pro) | gnomAD v4 |
1 | g.55059568T>G | CA340479921 | PCSK9 | c.1586T>G (p.Leu529Arg) c.1943T>G (p.Leu648Arg) c.1211T>G (p.Leu404Arg) c.326T>G (p.Leu109Arg) n.2227+921T>G n.1193T>G c.707T>G (p.Leu236Arg) | |
1 | g.55059569A= | CA1167984913 | PCSK9 | c.1587A= (p.Leu529=) c.1944A= (p.Leu648=) c.1212A= (p.Leu404=) c.327A= (p.Leu109=) n.2227+922A= n.1194A= c.708A= (p.Leu236=) | |
1 | g.55059569A>C | CA417960410 | PCSK9 | c.1587A>C (p.Leu529=) c.1944A>C (p.Leu648=) c.1212A>C (p.Leu404=) c.327A>C (p.Leu109=) n.2227+922A>C n.1194A>C c.708A>C (p.Leu236=) | dbSNP |
1 | g.55059569A>G | CA417960411 | PCSK9 | c.1587A>G (p.Leu529=) c.1944A>G (p.Leu648=) c.1212A>G (p.Leu404=) c.327A>G (p.Leu109=) n.2227+922A>G n.1194A>G c.708A>G (p.Leu236=) | |
1 | g.55059569A>T | CA417960412 | PCSK9 | c.1587A>T (p.Leu529=) c.1944A>T (p.Leu648=) c.1212A>T (p.Leu404=) c.327A>T (p.Leu109=) n.2227+922A>T n.1194A>T c.708A>T (p.Leu236=) | gnomAD v4 |
1 | g.55059570C>A | CA340479924 | PCSK9 | c.1588C>A (p.Pro530Thr) c.1945C>A (p.Pro649Thr) c.1213C>A (p.Pro405Thr) c.328C>A (p.Pro110Thr) n.2227+923C>A n.1195C>A c.709C>A (p.Pro237Thr) | dbSNP gnomAD v4 |
1 | g.55059570C= | CA1167984914 | PCSK9 | c.1588C= (p.Pro530=) c.1945C= (p.Pro649=) c.1213C= (p.Pro405=) c.328C= (p.Pro110=) n.2227+923C= n.1195C= c.709C= (p.Pro237=) | |
1 | g.55059570C>G | CA340479925 | PCSK9 | c.1588C>G (p.Pro530Ala) c.1945C>G (p.Pro649Ala) c.1213C>G (p.Pro405Ala) c.328C>G (p.Pro110Ala) n.2227+923C>G n.1195C>G c.709C>G (p.Pro237Ala) | |
1 | g.55059570C>T | CA340479926 | PCSK9 | c.1588C>T (p.Pro530Ser) c.1945C>T (p.Pro649Ser) c.1213C>T (p.Pro405Ser) c.328C>T (p.Pro110Ser) n.2227+923C>T n.1195C>T c.709C>T (p.Pro237Ser) | gnomAD v4 |
1 | g.55059573del | CA2645841176 | PCSK9 | c.1591del (p.Gln531ArgfsTer?) c.1948del (p.Gln650ArgfsTer?) c.1216del (p.Gln406ArgfsTer?) c.331del (p.Gln111ArgfsTer?) n.2227+926del n.1198del c.712del (p.Gln238ArgfsTer?) | gnomAD v4 |
1 | g.55059571C>A | CA22765579 | PCSK9 | c.1589C>A (p.Pro530His) c.1946C>A (p.Pro649His) c.1214C>A (p.Pro405His) c.329C>A (p.Pro110His) n.2227+924C>A n.1196C>A c.710C>A (p.Pro237His) | dbSNP gnomAD v4 |
1 | g.55059571C= | CA1167984915 | PCSK9 | c.1589C= (p.Pro530=) c.1946C= (p.Pro649=) c.1214C= (p.Pro405=) c.329C= (p.Pro110=) n.2227+924C= n.1196C= c.710C= (p.Pro237=) | |
1 | g.55059571C>G | CA340479927 | PCSK9 | c.1589C>G (p.Pro530Arg) c.1946C>G (p.Pro649Arg) c.1214C>G (p.Pro405Arg) c.329C>G (p.Pro110Arg) n.2227+924C>G n.1196C>G c.710C>G (p.Pro237Arg) | gnomAD v4 |
1 | g.55059571C>T | CA340479928 | PCSK9 | c.1589C>T (p.Pro530Leu) c.1946C>T (p.Pro649Leu) c.1214C>T (p.Pro405Leu) c.329C>T (p.Pro110Leu) n.2227+924C>T n.1196C>T c.710C>T (p.Pro237Leu) | gnomAD v4 |
1 | g.55059572C>A | CA417960413 | PCSK9 | c.1590C>A (p.Pro530=) c.1947C>A (p.Pro649=) c.1215C>A (p.Pro405=) c.330C>A (p.Pro110=) n.2227+925C>A n.1197C>A c.711C>A (p.Pro237=) | gnomAD v4 |
1 | g.55059572C>G | CA417960415 | PCSK9 | c.1590C>G (p.Pro530=) c.1947C>G (p.Pro649=) c.1215C>G (p.Pro405=) c.330C>G (p.Pro110=) n.2227+925C>G n.1197C>G c.711C>G (p.Pro237=) | |
1 | g.55059572C>T | CA417960414 | PCSK9 | c.1590C>T (p.Pro530=) c.1947C>T (p.Pro649=) c.1215C>T (p.Pro405=) c.330C>T (p.Pro110=) n.2227+925C>T n.1197C>T c.711C>T (p.Pro237=) | gnomAD v4 |
1 | g.55059572_55059573insT | CA645535867 | PCSK9 | c.1590_1591insT (p.Gln531SerfsTer13) c.1947_1948insT (p.Gln650SerfsTer13) c.1215_1216insT (p.Gln406SerfsTer13) c.330_331insT (p.Gln111SerfsTer13) n.2227+925_2227+926insT n.1197_1198insT c.711_712insT (p.Gln238SerfsTer13) | COSMIC |
1 | g.55059573C>A | CA340479929 | PCSK9 | c.1591C>A (p.Gln531Lys) c.1948C>A (p.Gln650Lys) c.1216C>A (p.Gln406Lys) c.331C>A (p.Gln111Lys) n.2227+926C>A n.1198C>A c.712C>A (p.Gln238Lys) | gnomAD v4 |
1 | g.55059573C= | CA1167984916 | PCSK9 | c.1591C= (p.Gln531=) c.1948C= (p.Gln650=) c.1216C= (p.Gln406=) c.331C= (p.Gln111=) n.2227+926C= n.1198C= c.712C= (p.Gln238=) | |
1 | g.55059573C>G | CA340479931 | PCSK9 | c.1591C>G (p.Gln531Glu) c.1948C>G (p.Gln650Glu) c.1216C>G (p.Gln406Glu) c.331C>G (p.Gln111Glu) n.2227+926C>G n.1198C>G c.712C>G (p.Gln238Glu) | |
1 | g.55059573C>T | CA340479930 | PCSK9 | c.1591C>T (p.Gln531Ter) c.1948C>T (p.Gln650Ter) c.1216C>T (p.Gln406Ter) c.331C>T (p.Gln111Ter) n.2227+926C>T n.1198C>T c.712C>T (p.Gln238Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.55059573_55059574insT | CA417960416 | PCSK9 | c.1591_1592insT (p.Gln531LeufsTer13) c.1948_1949insT (p.Gln650LeufsTer13) c.1216_1217insT (p.Gln406LeufsTer13) c.331_332insT (p.Gln111LeufsTer13) n.2227+926_2227+927insT n.1198_1199insT c.712_713insT (p.Gln238LeufsTer13) | |
1 | g.55059574A>C | CA340479932 | PCSK9 | c.1592A>C (p.Gln531Pro) c.1949A>C (p.Gln650Pro) c.1217A>C (p.Gln406Pro) c.332A>C (p.Gln111Pro) n.2227+927A>C n.1199A>C c.713A>C (p.Gln238Pro) | gnomAD v4 |
1 | g.55059574A>G | CA340479933 | PCSK9 | c.1592A>G (p.Gln531Arg) c.1949A>G (p.Gln650Arg) c.1217A>G (p.Gln406Arg) c.332A>G (p.Gln111Arg) n.2227+927A>G n.1199A>G c.713A>G (p.Gln238Arg) | gnomAD v4 |
1 | g.55059574A>T | CA340479934 | PCSK9 | c.1592A>T (p.Gln531Leu) c.1949A>T (p.Gln650Leu) c.1217A>T (p.Gln406Leu) c.332A>T (p.Gln111Leu) n.2227+927A>T n.1199A>T c.713A>T (p.Gln238Leu) | |
1 | g.55059575G>A | CA038114 | PCSK9 | c.1593G>A (p.Gln531=) c.1950G>A (p.Gln650=) c.1218G>A (p.Gln406=) c.333G>A (p.Gln111=) n.2227+928G>A n.1200G>A c.714G>A (p.Gln238=) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.55059575G>C | CA340479935 | PCSK9 | c.1593G>C (p.Gln531His) c.1950G>C (p.Gln650His) c.1218G>C (p.Gln406His) c.333G>C (p.Gln111His) n.2227+928G>C n.1200G>C c.714G>C (p.Gln238His) | |
1 | g.55059575G= | CA1167984917 | PCSK9 | c.1593G= (p.Gln531=) c.1950G= (p.Gln650=) c.1218G= (p.Gln406=) c.333G= (p.Gln111=) n.2227+928G= n.1200G= c.714G= (p.Gln238=) | |
1 | g.55059575G>T | CA340479936 | PCSK9 | c.1593G>T (p.Gln531His) c.1950G>T (p.Gln650His) c.1218G>T (p.Gln406His) c.333G>T (p.Gln111His) n.2227+928G>T n.1200G>T c.714G>T (p.Gln238His) | gnomAD v4 |
1 | g.55059576G>A | CA340479937 | PCSK9 | c.1594G>A (p.Ala532Thr) c.1951G>A (p.Ala651Thr) c.1219G>A (p.Ala407Thr) c.334G>A (p.Ala112Thr) n.2227+929G>A n.1201G>A c.715G>A (p.Ala239Thr) | gnomAD v4 |
1 | g.55059576G>C | CA340479938 | PCSK9 | c.1594G>C (p.Ala532Pro) c.1951G>C (p.Ala651Pro) c.1219G>C (p.Ala407Pro) c.334G>C (p.Ala112Pro) n.2227+929G>C n.1201G>C c.715G>C (p.Ala239Pro) | |
1 | g.55059576G>T | CA340479939 | PCSK9 | c.1594G>T (p.Ala532Ser) c.1951G>T (p.Ala651Ser) c.1219G>T (p.Ala407Ser) c.334G>T (p.Ala112Ser) n.2227+929G>T n.1201G>T c.715G>T (p.Ala239Ser) | gnomAD v4 |
1 | g.55059577C>A | CA340479940 | PCSK9 | c.1595C>A (p.Ala532Asp) c.1952C>A (p.Ala651Asp) c.1220C>A (p.Ala407Asp) c.335C>A (p.Ala112Asp) n.2227+930C>A n.1202C>A c.716C>A (p.Ala239Asp) | gnomAD v4 |
1 | g.55059577C>G | CA340479941 | PCSK9 | c.1595C>G (p.Ala532Gly) c.1952C>G (p.Ala651Gly) c.1220C>G (p.Ala407Gly) c.335C>G (p.Ala112Gly) n.2227+930C>G n.1202C>G c.716C>G (p.Ala239Gly) | |
1 | g.55059577C>T | CA340479942 | PCSK9 | c.1595C>T (p.Ala532Val) c.1952C>T (p.Ala651Val) c.1220C>T (p.Ala407Val) c.335C>T (p.Ala112Val) n.2227+930C>T n.1202C>T c.716C>T (p.Ala239Val) | gnomAD v4 |
1 | g.55059578C>A | CA417960417 | PCSK9 | c.1596C>A (p.Ala532=) c.1953C>A (p.Ala651=) c.1221C>A (p.Ala407=) c.336C>A (p.Ala112=) n.2227+931C>A n.1203C>A c.717C>A (p.Ala239=) | gnomAD v4 |
1 | g.55059578C>G | CA417960418 | PCSK9 | c.1596C>G (p.Ala532=) c.1953C>G (p.Ala651=) c.1221C>G (p.Ala407=) c.336C>G (p.Ala112=) n.2227+931C>G n.1203C>G c.717C>G (p.Ala239=) | |
1 | g.55059578C>T | CA417960419 | PCSK9 | c.1596C>T (p.Ala532=) c.1953C>T (p.Ala651=) c.1221C>T (p.Ala407=) c.336C>T (p.Ala112=) n.2227+931C>T n.1203C>T c.717C>T (p.Ala239=) | |
1 | g.55059579A>C | CA340479945 | PCSK9 | c.1597A>C (p.Asn533His) c.1954A>C (p.Asn652His) c.1222A>C (p.Asn408His) c.337A>C (p.Asn113His) n.2227+932A>C n.1204A>C c.718A>C (p.Asn240His) | |
1 | g.55059579A>G | CA340479944 | PCSK9 | c.1597A>G (p.Asn533Asp) c.1954A>G (p.Asn652Asp) c.1222A>G (p.Asn408Asp) c.337A>G (p.Asn113Asp) n.2227+932A>G n.1204A>G c.718A>G (p.Asn240Asp) | |
1 | g.55059579A>T | CA340479943 | PCSK9 | c.1597A>T (p.Asn533Tyr) c.1954A>T (p.Asn652Tyr) c.1222A>T (p.Asn408Tyr) c.337A>T (p.Asn113Tyr) n.2227+932A>T n.1204A>T c.718A>T (p.Asn240Tyr) | |
1 | g.55059580A>C | CA340479948 | PCSK9 | c.1598A>C (p.Asn533Thr) c.1955A>C (p.Asn652Thr) c.1223A>C (p.Asn408Thr) c.338A>C (p.Asn113Thr) n.2227+933A>C n.1205A>C c.719A>C (p.Asn240Thr) | |
1 | g.55059580A>G | CA340479946 | PCSK9 | c.1598A>G (p.Asn533Ser) c.1955A>G (p.Asn652Ser) c.1223A>G (p.Asn408Ser) c.338A>G (p.Asn113Ser) n.2227+933A>G n.1205A>G c.719A>G (p.Asn240Ser) | |
1 | g.55059580A>T | CA340479947 | PCSK9 | c.1598A>T (p.Asn533Ile) c.1955A>T (p.Asn652Ile) c.1223A>T (p.Asn408Ile) c.338A>T (p.Asn113Ile) n.2227+933A>T n.1205A>T c.719A>T (p.Asn240Ile) | |
1 | g.55059581C>A | CA340479949 | PCSK9 | c.1599C>A (p.Asn533Lys) c.1956C>A (p.Asn652Lys) c.1224C>A (p.Asn408Lys) c.339C>A (p.Asn113Lys) n.2227+934C>A n.1206C>A c.720C>A (p.Asn240Lys) | gnomAD v4 |
1 | g.55059581C>G | CA340479950 | PCSK9 | c.1599C>G (p.Asn533Lys) c.1956C>G (p.Asn652Lys) c.1224C>G (p.Asn408Lys) c.339C>G (p.Asn113Lys) n.2227+934C>G n.1206C>G c.720C>G (p.Asn240Lys) | |
1 | g.55059581C>T | CA417960420 | PCSK9 | c.1599C>T (p.Asn533=) c.1956C>T (p.Asn652=) c.1224C>T (p.Asn408=) c.339C>T (p.Asn113=) n.2227+934C>T n.1206C>T c.720C>T (p.Asn240=) | |
1 | g.55059582T>A | CA340479951 | PCSK9 | c.1600T>A (p.Cys534Ser) c.1957T>A (p.Cys653Ser) c.1225T>A (p.Cys409Ser) c.340T>A (p.Cys114Ser) n.2227+935T>A n.1207T>A c.721T>A (p.Cys241Ser) | |
1 | g.55059582T>C | CA340479952 | PCSK9 | c.1600T>C (p.Cys534Arg) c.1957T>C (p.Cys653Arg) c.1225T>C (p.Cys409Arg) c.340T>C (p.Cys114Arg) n.2227+935T>C n.1207T>C c.721T>C (p.Cys241Arg) | |
1 | g.55059582T>G | CA340479953 | PCSK9 | c.1600T>G (p.Cys534Gly) c.1957T>G (p.Cys653Gly) c.1225T>G (p.Cys409Gly) c.340T>G (p.Cys114Gly) n.2227+935T>G n.1207T>G c.721T>G (p.Cys241Gly) | |
1 | g.55059583G>A | CA22765590 | PCSK9 | c.1601G>A (p.Cys534Tyr) c.1958G>A (p.Cys653Tyr) c.1226G>A (p.Cys409Tyr) c.341G>A (p.Cys114Tyr) n.2227+936G>A n.1208G>A c.722G>A (p.Cys241Tyr) | dbSNP gnomAD v4 |
1 | g.55059583G>C | CA340479954 | PCSK9 | c.1601G>C (p.Cys534Ser) c.1958G>C (p.Cys653Ser) c.1226G>C (p.Cys409Ser) c.341G>C (p.Cys114Ser) n.2227+936G>C n.1208G>C c.722G>C (p.Cys241Ser) | |
1 | g.55059583G= | CA1167984918 | PCSK9 | c.1601G= (p.Cys534=) c.1958G= (p.Cys653=) c.1226G= (p.Cys409=) c.341G= (p.Cys114=) n.2227+936G= n.1208G= c.722G= (p.Cys241=) | |
1 | g.55059583G>T | CA340479955 | PCSK9 | c.1601G>T (p.Cys534Phe) c.1958G>T (p.Cys653Phe) c.1226G>T (p.Cys409Phe) c.341G>T (p.Cys114Phe) n.2227+936G>T n.1208G>T c.722G>T (p.Cys241Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.55059584C>A | CA340479956 | PCSK9 | c.1602C>A (p.Cys534Ter) c.1959C>A (p.Cys653Ter) c.1227C>A (p.Cys409Ter) c.342C>A (p.Cys114Ter) n.2227+937C>A n.1209C>A c.723C>A (p.Cys241Ter) | |
1 | g.55059584C>G | CA340479957 | PCSK9 | c.1602C>G (p.Cys534Trp) c.1959C>G (p.Cys653Trp) c.1227C>G (p.Cys409Trp) c.342C>G (p.Cys114Trp) n.2227+937C>G n.1209C>G c.723C>G (p.Cys241Trp) | |
1 | g.55059584C>T | CA417960421 | PCSK9 | c.1602C>T (p.Cys534=) c.1959C>T (p.Cys653=) c.1227C>T (p.Cys409=) c.342C>T (p.Cys114=) n.2227+937C>T n.1209C>T c.723C>T (p.Cys241=) | gnomAD v4 |
1 | g.55059585A>C | CA340479958 | PCSK9 | c.1603A>C (p.Ser535Arg) c.1960A>C (p.Ser654Arg) c.1228A>C (p.Ser410Arg) c.343A>C (p.Ser115Arg) n.2227+938A>C n.1210A>C c.724A>C (p.Ser242Arg) | |
1 | g.55059585A>G | CA340479959 | PCSK9 | c.1603A>G (p.Ser535Gly) c.1960A>G (p.Ser654Gly) c.1228A>G (p.Ser410Gly) c.343A>G (p.Ser115Gly) n.2227+938A>G n.1210A>G c.724A>G (p.Ser242Gly) | gnomAD v4 |
1 | g.55059585A>T | CA340479960 | PCSK9 | c.1603A>T (p.Ser535Cys) c.1960A>T (p.Ser654Cys) c.1228A>T (p.Ser410Cys) c.343A>T (p.Ser115Cys) n.2227+938A>T n.1210A>T c.724A>T (p.Ser242Cys) | |
1 | g.55059586G>A | CA340479961 | PCSK9 | c.1604G>A (p.Ser535Asn) c.1961G>A (p.Ser654Asn) c.1229G>A (p.Ser410Asn) c.344G>A (p.Ser115Asn) n.2227+939G>A n.1211G>A c.725G>A (p.Ser242Asn) | gnomAD v4 |
1 | g.55059586G>C | CA340479963 | PCSK9 | c.1604G>C (p.Ser535Thr) c.1961G>C (p.Ser654Thr) c.1229G>C (p.Ser410Thr) c.344G>C (p.Ser115Thr) n.2227+939G>C n.1211G>C c.725G>C (p.Ser242Thr) | |
1 | g.55059586G>T | CA340479962 | PCSK9 | c.1604G>T (p.Ser535Ile) c.1961G>T (p.Ser654Ile) c.1229G>T (p.Ser410Ile) c.344G>T (p.Ser115Ile) n.2227+939G>T n.1211G>T c.725G>T (p.Ser242Ile) | gnomAD v4 |
1 | g.55059587C>A | CA340479964 | PCSK9 | c.1605C>A (p.Ser535Arg) c.1962C>A (p.Ser654Arg) c.1230C>A (p.Ser410Arg) c.345C>A (p.Ser115Arg) n.2227+940C>A n.1212C>A c.726C>A (p.Ser242Arg) | gnomAD v4 |
1 | g.55059587C= | CA1167984919 | PCSK9 | c.1605C= (p.Ser535=) c.1962C= (p.Ser654=) c.1230C= (p.Ser410=) c.345C= (p.Ser115=) n.2227+940C= n.1212C= c.726C= (p.Ser242=) | |
1 | g.55059587C>G | CA340479965 | PCSK9 | c.1605C>G (p.Ser535Arg) c.1962C>G (p.Ser654Arg) c.1230C>G (p.Ser410Arg) c.345C>G (p.Ser115Arg) n.2227+940C>G n.1212C>G c.726C>G (p.Ser242Arg) | gnomAD v4 |
1 | g.55059587C>T | CA22765599 | PCSK9 | c.1605C>T (p.Ser535=) c.1962C>T (p.Ser654=) c.1230C>T (p.Ser410=) c.345C>T (p.Ser115=) n.2227+940C>T n.1212C>T c.726C>T (p.Ser242=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059588G>A | CA038148 | PCSK9 | c.1606G>A (p.Val536Ile) c.1963G>A (p.Val655Ile) c.1231G>A (p.Val411Ile) c.346G>A (p.Val116Ile) n.2227+941G>A n.1213G>A c.727G>A (p.Val243Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059588G>C | CA340479966 | PCSK9 | c.1606G>C (p.Val536Leu) c.1963G>C (p.Val655Leu) c.1231G>C (p.Val411Leu) c.346G>C (p.Val116Leu) n.2227+941G>C n.1213G>C c.727G>C (p.Val243Leu) | |
1 | g.55059588G= | CA1167984920 | PCSK9 | c.1606G= (p.Val536=) c.1963G= (p.Val655=) c.1231G= (p.Val411=) c.346G= (p.Val116=) n.2227+941G= n.1213G= c.727G= (p.Val243=) | |
1 | g.55059588G>T | CA340479967 | PCSK9 | c.1606G>T (p.Val536Phe) c.1963G>T (p.Val655Phe) c.1231G>T (p.Val411Phe) c.346G>T (p.Val116Phe) n.2227+941G>T n.1213G>T c.727G>T (p.Val243Phe) | |
1 | g.55059589T>A | CA340479968 | PCSK9 | c.1607T>A (p.Val536Asp) c.1964T>A (p.Val655Asp) c.1232T>A (p.Val411Asp) c.347T>A (p.Val116Asp) n.2227+942T>A n.1214T>A c.728T>A (p.Val243Asp) | |
1 | g.55059589T>C | CA340479969 | PCSK9 | c.1607T>C (p.Val536Ala) c.1964T>C (p.Val655Ala) c.1232T>C (p.Val411Ala) c.347T>C (p.Val116Ala) n.2227+942T>C n.1214T>C c.728T>C (p.Val243Ala) | |
1 | g.55059589T>G | CA340479970 | PCSK9 | c.1607T>G (p.Val536Gly) c.1964T>G (p.Val655Gly) c.1232T>G (p.Val411Gly) c.347T>G (p.Val116Gly) n.2227+942T>G n.1214T>G c.728T>G (p.Val243Gly) | |
1 | g.55059590C>A | CA417960422 | PCSK9 | c.1608C>A (p.Val536=) c.1965C>A (p.Val655=) c.1233C>A (p.Val411=) c.348C>A (p.Val116=) n.2227+943C>A n.1215C>A c.729C>A (p.Val243=) | gnomAD v4 |
1 | g.55059590C= | CA1167984921 | PCSK9 | c.1608C= (p.Val536=) c.1965C= (p.Val655=) c.1233C= (p.Val411=) c.348C= (p.Val116=) n.2227+943C= n.1215C= c.729C= (p.Val243=) | |
1 | g.55059590C>G | CA417960423 | PCSK9 | c.1608C>G (p.Val536=) c.1965C>G (p.Val655=) c.1233C>G (p.Val411=) c.348C>G (p.Val116=) n.2227+943C>G n.1215C>G c.729C>G (p.Val243=) | |
1 | g.55059590C>T | CA417960424 | PCSK9 | c.1608C>T (p.Val536=) c.1965C>T (p.Val655=) c.1233C>T (p.Val411=) c.348C>T (p.Val116=) n.2227+943C>T n.1215C>T c.729C>T (p.Val243=) | dbSNP gnomAD v2 |
1 | g.55059591C>A | CA340479971 | PCSK9 | c.1609C>A (p.His537Asn) c.1966C>A (p.His656Asn) c.1234C>A (p.His412Asn) c.349C>A (p.His117Asn) n.2227+944C>A n.1216C>A c.730C>A (p.His244Asn) | gnomAD v4 |
1 | g.55059591C>G | CA340479972 | PCSK9 | c.1609C>G (p.His537Asp) c.1966C>G (p.His656Asp) c.1234C>G (p.His412Asp) c.349C>G (p.His117Asp) n.2227+944C>G n.1216C>G c.730C>G (p.His244Asp) | |
1 | g.55059591C>T | CA340479973 | PCSK9 | c.1609C>T (p.His537Tyr) c.1966C>T (p.His656Tyr) c.1234C>T (p.His412Tyr) c.349C>T (p.His117Tyr) n.2227+944C>T n.1216C>T c.730C>T (p.His244Tyr) | |
1 | g.55059592A>C | CA340479974 | PCSK9 | c.1610A>C (p.His537Pro) c.1967A>C (p.His656Pro) c.1235A>C (p.His412Pro) c.350A>C (p.His117Pro) n.2227+945A>C n.1217A>C c.731A>C (p.His244Pro) | |
1 | g.55059592A>G | CA340479976 | PCSK9 | c.1610A>G (p.His537Arg) c.1967A>G (p.His656Arg) c.1235A>G (p.His412Arg) c.350A>G (p.His117Arg) n.2227+945A>G n.1217A>G c.731A>G (p.His244Arg) | |
1 | g.55059592A>T | CA340479975 | PCSK9 | c.1610A>T (p.His537Leu) c.1967A>T (p.His656Leu) c.1235A>T (p.His412Leu) c.350A>T (p.His117Leu) n.2227+945A>T n.1217A>T c.731A>T (p.His244Leu) | |
1 | g.55059593C>A | CA340479977 | PCSK9 | c.1611C>A (p.His537Gln) c.1968C>A (p.His656Gln) c.1236C>A (p.His412Gln) c.351C>A (p.His117Gln) n.2227+946C>A n.1218C>A c.732C>A (p.His244Gln) | |
1 | g.55059593C= | CA1167984922 | PCSK9 | c.1611C= (p.His537=) c.1968C= (p.His656=) c.1236C= (p.His412=) c.351C= (p.His117=) n.2227+946C= n.1218C= c.732C= (p.His244=) | |
1 | g.55059593C>G | CA340479978 | PCSK9 | c.1611C>G (p.His537Gln) c.1968C>G (p.His656Gln) c.1236C>G (p.His412Gln) c.351C>G (p.His117Gln) n.2227+946C>G n.1218C>G c.732C>G (p.His244Gln) | |
1 | g.55059593C>T | CA417960425 | PCSK9 | c.1611C>T (p.His537=) c.1968C>T (p.His656=) c.1236C>T (p.His412=) c.351C>T (p.His117=) n.2227+946C>T n.1218C>T c.732C>T (p.His244=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059594A= | CA1167984923 | PCSK9 | c.1612A= (p.Thr538=) c.1969A= (p.Thr657=) c.1237A= (p.Thr413=) c.352A= (p.Thr118=) n.2227+947A= n.1219A= c.733A= (p.Thr245=) | |
1 | g.55059594A>C | CA340479979 | PCSK9 | c.1612A>C (p.Thr538Pro) c.1969A>C (p.Thr657Pro) c.1237A>C (p.Thr413Pro) c.352A>C (p.Thr118Pro) n.2227+947A>C n.1219A>C c.733A>C (p.Thr245Pro) | |
1 | g.55059594A>G | CA340479980 | PCSK9 | c.1612A>G (p.Thr538Ala) c.1969A>G (p.Thr657Ala) c.1237A>G (p.Thr413Ala) c.352A>G (p.Thr118Ala) n.2227+947A>G n.1219A>G c.733A>G (p.Thr245Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55059594A>T | CA340479981 | PCSK9 | c.1612A>T (p.Thr538Ser) c.1969A>T (p.Thr657Ser) c.1237A>T (p.Thr413Ser) c.352A>T (p.Thr118Ser) n.2227+947A>T n.1219A>T c.733A>T (p.Thr245Ser) | |
1 | g.55059595C>A | CA340479982 | PCSK9 | c.1613C>A (p.Thr538Lys) c.1970C>A (p.Thr657Lys) c.1238C>A (p.Thr413Lys) c.353C>A (p.Thr118Lys) n.2227+948C>A n.1220C>A c.734C>A (p.Thr245Lys) | |
1 | g.55059595C>G | CA340479983 | PCSK9 | c.1613C>G (p.Thr538Arg) c.1970C>G (p.Thr657Arg) c.1238C>G (p.Thr413Arg) c.353C>G (p.Thr118Arg) n.2227+948C>G n.1220C>G c.734C>G (p.Thr245Arg) | gnomAD v4 |
1 | g.55059595C>T | CA340479984 | PCSK9 | c.1613C>T (p.Thr538Ile) c.1970C>T (p.Thr657Ile) c.1238C>T (p.Thr413Ile) c.353C>T (p.Thr118Ile) n.2227+948C>T n.1220C>T c.734C>T (p.Thr245Ile) | |
1 | g.55059596A>C | CA417960427 | PCSK9 | c.1614A>C (p.Thr538=) c.1971A>C (p.Thr657=) c.1239A>C (p.Thr413=) c.354A>C (p.Thr118=) n.2227+949A>C n.1221A>C c.735A>C (p.Thr245=) | |
1 | g.55059596A>G | CA417960428 | PCSK9 | c.1614A>G (p.Thr538=) c.1971A>G (p.Thr657=) c.1239A>G (p.Thr413=) c.354A>G (p.Thr118=) n.2227+949A>G n.1221A>G c.735A>G (p.Thr245=) | |
1 | g.55059596A>T | CA417960426 | PCSK9 | c.1614A>T (p.Thr538=) c.1971A>T (p.Thr657=) c.1239A>T (p.Thr413=) c.354A>T (p.Thr118=) n.2227+949A>T n.1221A>T c.735A>T (p.Thr245=) | |
1 | g.55059597G>A | CA340479985 | PCSK9 | c.1615G>A (p.Ala539Thr) c.1972G>A (p.Ala658Thr) c.1240G>A (p.Ala414Thr) c.355G>A (p.Ala119Thr) n.2227+950G>A n.1222G>A c.736G>A (p.Ala246Thr) | |
1 | g.55059597G>C | CA340479986 | PCSK9 | c.1615G>C (p.Ala539Pro) c.1972G>C (p.Ala658Pro) c.1240G>C (p.Ala414Pro) c.355G>C (p.Ala119Pro) n.2227+950G>C n.1222G>C c.736G>C (p.Ala246Pro) | |
1 | g.55059597G>T | CA340479987 | PCSK9 | c.1615G>T (p.Ala539Ser) c.1972G>T (p.Ala658Ser) c.1240G>T (p.Ala414Ser) c.355G>T (p.Ala119Ser) n.2227+950G>T n.1222G>T c.736G>T (p.Ala246Ser) | gnomAD v4 |
1 | g.55059598C>A | CA340479990 | PCSK9 | c.1616C>A (p.Ala539Asp) c.1973C>A (p.Ala658Asp) c.1241C>A (p.Ala414Asp) c.356C>A (p.Ala119Asp) n.2227+951C>A n.1223C>A c.737C>A (p.Ala246Asp) | gnomAD v4 |
1 | g.55059598C>G | CA340479989 | PCSK9 | c.1616C>G (p.Ala539Gly) c.1973C>G (p.Ala658Gly) c.1241C>G (p.Ala414Gly) c.356C>G (p.Ala119Gly) n.2227+951C>G n.1223C>G c.737C>G (p.Ala246Gly) | |
1 | g.55059598C>T | CA340479988 | PCSK9 | c.1616C>T (p.Ala539Val) c.1973C>T (p.Ala658Val) c.1241C>T (p.Ala414Val) c.356C>T (p.Ala119Val) n.2227+951C>T n.1223C>T c.737C>T (p.Ala246Val) | |
1 | g.55059599T>A | CA417960431 | PCSK9 | c.1617T>A (p.Ala539=) c.1974T>A (p.Ala658=) c.1242T>A (p.Ala414=) c.357T>A (p.Ala119=) n.2227+952T>A n.1224T>A c.738T>A (p.Ala246=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55059599T>C | CA417960429 | PCSK9 | c.1617T>C (p.Ala539=) c.1974T>C (p.Ala658=) c.1242T>C (p.Ala414=) c.357T>C (p.Ala119=) n.2227+952T>C n.1224T>C c.738T>C (p.Ala246=) | |
1 | g.55059599T>G | CA417960430 | PCSK9 | c.1617T>G (p.Ala539=) c.1974T>G (p.Ala658=) c.1242T>G (p.Ala414=) c.357T>G (p.Ala119=) n.2227+952T>G n.1224T>G c.738T>G (p.Ala246=) | |
1 | g.55059599T= | CA1167984924 | PCSK9 | c.1617T= (p.Ala539=) c.1974T= (p.Ala658=) c.1242T= (p.Ala414=) c.357T= (p.Ala119=) n.2227+952T= n.1224T= c.738T= (p.Ala246=) | |
1 | g.55059600C>A | CA340479991 | PCSK9 | c.1618C>A (p.Pro540Thr) c.1975C>A (p.Pro659Thr) c.1243C>A (p.Pro415Thr) c.358C>A (p.Pro120Thr) n.2227+953C>A n.1225C>A c.739C>A (p.Pro247Thr) | gnomAD v4 |
1 | g.55059600C>G | CA340479992 | PCSK9 | c.1618C>G (p.Pro540Ala) c.1975C>G (p.Pro659Ala) c.1243C>G (p.Pro415Ala) c.358C>G (p.Pro120Ala) n.2227+953C>G n.1225C>G c.739C>G (p.Pro247Ala) | |
1 | g.55059600C>T | CA340479993 | PCSK9 | c.1618C>T (p.Pro540Ser) c.1975C>T (p.Pro659Ser) c.1243C>T (p.Pro415Ser) c.358C>T (p.Pro120Ser) n.2227+953C>T n.1225C>T c.739C>T (p.Pro247Ser) | gnomAD v4 |
1 | g.55059601C>A | CA340479994 | PCSK9 | c.1619C>A (p.Pro540Gln) c.1976C>A (p.Pro659Gln) c.1244C>A (p.Pro415Gln) c.359C>A (p.Pro120Gln) n.2227+954C>A n.1226C>A c.740C>A (p.Pro247Gln) | |
1 | g.55059601C>G | CA340479995 | PCSK9 | c.1619C>G (p.Pro540Arg) c.1976C>G (p.Pro659Arg) c.1244C>G (p.Pro415Arg) c.359C>G (p.Pro120Arg) n.2227+954C>G n.1226C>G c.740C>G (p.Pro247Arg) | |
1 | g.55059601C>T | CA340479996 | PCSK9 | c.1619C>T (p.Pro540Leu) c.1976C>T (p.Pro659Leu) c.1244C>T (p.Pro415Leu) c.359C>T (p.Pro120Leu) n.2227+954C>T n.1226C>T c.740C>T (p.Pro247Leu) | |
1 | g.55059602A= | CA1140023836 | PCSK9 | c.1620A= (p.Pro540=) c.1977A= (p.Pro659=) c.1245A= (p.Pro415=) c.360A= (p.Pro120=) n.2227+955A= n.1227A= c.741A= (p.Pro247=) | |
1 | g.55059602A>C | CA22765602 | PCSK9 | c.1620A>C (p.Pro540=) c.1977A>C (p.Pro659=) c.1245A>C (p.Pro415=) c.360A>C (p.Pro120=) n.2227+955A>C n.1227A>C c.741A>C (p.Pro247=) | dbSNP |
1 | g.55059602A>G | CA417960433 | PCSK9 | c.1620A>G (p.Pro540=) c.1977A>G (p.Pro659=) c.1245A>G (p.Pro415=) c.360A>G (p.Pro120=) n.2227+955A>G n.1227A>G c.741A>G (p.Pro247=) | dbSNP gnomAD v4 |
1 | g.55059602A>T | CA417960432 | PCSK9 | c.1620A>T (p.Pro540=) c.1977A>T (p.Pro659=) c.1245A>T (p.Pro415=) c.360A>T (p.Pro120=) n.2227+955A>T n.1227A>T c.741A>T (p.Pro247=) | |
1 | g.55059603C>A | CA340479997 | PCSK9 | c.1621C>A (p.Pro541Thr) c.1978C>A (p.Pro660Thr) c.1246C>A (p.Pro416Thr) c.361C>A (p.Pro121Thr) n.2227+956C>A n.1228C>A c.742C>A (p.Pro248Thr) | dbSNP gnomAD v4 |
1 | g.55059603C= | CA1143699928 | PCSK9 | c.1621C= (p.Pro541=) c.1978C= (p.Pro660=) c.1246C= (p.Pro416=) c.361C= (p.Pro121=) n.2227+956C= n.1228C= c.742C= (p.Pro248=) | |
1 | g.55059603C>G | CA340479998 | PCSK9 | c.1621C>G (p.Pro541Ala) c.1978C>G (p.Pro660Ala) c.1246C>G (p.Pro416Ala) c.361C>G (p.Pro121Ala) n.2227+956C>G n.1228C>G c.742C>G (p.Pro248Ala) | |
1 | g.55059603C>T | CA038172 | PCSK9 | c.1621C>T (p.Pro541Ser) c.1978C>T (p.Pro660Ser) c.1246C>T (p.Pro416Ser) c.361C>T (p.Pro121Ser) n.2227+956C>T n.1228C>T c.742C>T (p.Pro248Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059604C>A | CA340479999 | PCSK9 | c.1622C>A (p.Pro541Gln) c.1979C>A (p.Pro660Gln) c.1247C>A (p.Pro416Gln) c.362C>A (p.Pro121Gln) n.2227+957C>A n.1229C>A c.743C>A (p.Pro248Gln) | gnomAD v4 |
1 | g.55059604C>G | CA340480000 | PCSK9 | c.1622C>G (p.Pro541Arg) c.1979C>G (p.Pro660Arg) c.1247C>G (p.Pro416Arg) c.362C>G (p.Pro121Arg) n.2227+957C>G n.1229C>G c.743C>G (p.Pro248Arg) | |
1 | g.55059604C>T | CA340480001 | PCSK9 | c.1622C>T (p.Pro541Leu) c.1979C>T (p.Pro660Leu) c.1247C>T (p.Pro416Leu) c.362C>T (p.Pro121Leu) n.2227+957C>T n.1229C>T c.743C>T (p.Pro248Leu) | |
1 | g.55059605A= | CA1167984925 | PCSK9 | c.1623A= (p.Pro541=) c.1980A= (p.Pro660=) c.1248A= (p.Pro416=) c.363A= (p.Pro121=) n.2227+958A= n.1230A= c.744A= (p.Pro248=) | |
1 | g.55059605A>C | CA417960436 | PCSK9 | c.1623A>C (p.Pro541=) c.1980A>C (p.Pro660=) c.1248A>C (p.Pro416=) c.363A>C (p.Pro121=) n.2227+958A>C n.1230A>C c.744A>C (p.Pro248=) | gnomAD v4 |
1 | g.55059605A>G | CA417960434 | PCSK9 | c.1623A>G (p.Pro541=) c.1980A>G (p.Pro660=) c.1248A>G (p.Pro416=) c.363A>G (p.Pro121=) n.2227+958A>G n.1230A>G c.744A>G (p.Pro248=) | ClinVar dbSNP gnomAD v4 |
1 | g.55059605A>T | CA417960435 | PCSK9 | c.1623A>T (p.Pro541=) c.1980A>T (p.Pro660=) c.1248A>T (p.Pro416=) c.363A>T (p.Pro121=) n.2227+958A>T n.1230A>T c.744A>T (p.Pro248=) | |
1 | g.55059606G>A | CA340480004 | PCSK9 | c.1624G>A (p.Ala542Thr) c.1981G>A (p.Ala661Thr) c.1249G>A (p.Ala417Thr) c.364G>A (p.Ala122Thr) n.2227+959G>A n.1231G>A c.745G>A (p.Ala249Thr) | gnomAD v4 |
1 | g.55059606G>C | CA340480003 | PCSK9 | c.1624G>C (p.Ala542Pro) c.1981G>C (p.Ala661Pro) c.1249G>C (p.Ala417Pro) c.364G>C (p.Ala122Pro) n.2227+959G>C n.1231G>C c.745G>C (p.Ala249Pro) | |
1 | g.55059606G>T | CA340480002 | PCSK9 | c.1624G>T (p.Ala542Ser) c.1981G>T (p.Ala661Ser) c.1249G>T (p.Ala417Ser) c.364G>T (p.Ala122Ser) n.2227+959G>T n.1231G>T c.745G>T (p.Ala249Ser) | |
1 | g.55059607C>A | CA340480005 | PCSK9 | c.1625C>A (p.Ala542Asp) c.1982C>A (p.Ala661Asp) c.1250C>A (p.Ala417Asp) c.365C>A (p.Ala122Asp) n.2227+960C>A n.1232C>A c.746C>A (p.Ala249Asp) | gnomAD v4 |
1 | g.55059607C>G | CA340480007 | PCSK9 | c.1625C>G (p.Ala542Gly) c.1982C>G (p.Ala661Gly) c.1250C>G (p.Ala417Gly) c.365C>G (p.Ala122Gly) n.2227+960C>G n.1232C>G c.746C>G (p.Ala249Gly) | gnomAD v4 |
1 | g.55059607C>T | CA340480006 | PCSK9 | c.1625C>T (p.Ala542Val) c.1982C>T (p.Ala661Val) c.1250C>T (p.Ala417Val) c.365C>T (p.Ala122Val) n.2227+960C>T n.1232C>T c.746C>T (p.Ala249Val) | gnomAD v4 COSMIC |
1 | g.55059608T>A | CA417960437 | PCSK9 | c.1626T>A (p.Ala542=) c.1983T>A (p.Ala661=) c.1251T>A (p.Ala417=) c.366T>A (p.Ala122=) n.2227+961T>A n.1233T>A c.747T>A (p.Ala249=) | |
1 | g.55059608T>C | CA417960439 | PCSK9 | c.1626T>C (p.Ala542=) c.1983T>C (p.Ala661=) c.1251T>C (p.Ala417=) c.366T>C (p.Ala122=) n.2227+961T>C n.1233T>C c.747T>C (p.Ala249=) | gnomAD v4 |
1 | g.55059608T>G | CA417960438 | PCSK9 | c.1626T>G (p.Ala542=) c.1983T>G (p.Ala661=) c.1251T>G (p.Ala417=) c.366T>G (p.Ala122=) n.2227+961T>G n.1233T>G c.747T>G (p.Ala249=) | gnomAD v4 |
1 | g.55059609G>A | CA340480008 | PCSK9 | c.1627G>A (p.Glu543Lys) c.1984G>A (p.Glu662Lys) c.1252G>A (p.Glu418Lys) c.367G>A (p.Glu123Lys) n.2227+962G>A n.1234G>A c.748G>A (p.Glu250Lys) | |
1 | g.55059609G>C | CA340480010 | PCSK9 | c.1627G>C (p.Glu543Gln) c.1984G>C (p.Glu662Gln) c.1252G>C (p.Glu418Gln) c.367G>C (p.Glu123Gln) n.2227+962G>C n.1234G>C c.748G>C (p.Glu250Gln) | |
1 | g.55059609G>T | CA340480009 | PCSK9 | c.1627G>T (p.Glu543Ter) c.1984G>T (p.Glu662Ter) c.1252G>T (p.Glu418Ter) c.367G>T (p.Glu123Ter) n.2227+962G>T n.1234G>T c.748G>T (p.Glu250Ter) | gnomAD v4 |
1 | g.55059610A>C | CA340480011 | PCSK9 | c.1628A>C (p.Glu543Ala) c.1985A>C (p.Glu662Ala) c.1253A>C (p.Glu418Ala) c.368A>C (p.Glu123Ala) n.2227+963A>C n.1235A>C c.749A>C (p.Glu250Ala) | |
1 | g.55059610A>G | CA340480012 | PCSK9 | c.1628A>G (p.Glu543Gly) c.1985A>G (p.Glu662Gly) c.1253A>G (p.Glu418Gly) c.368A>G (p.Glu123Gly) n.2227+963A>G n.1235A>G c.749A>G (p.Glu250Gly) | |
1 | g.55059610A>T | CA340480013 | PCSK9 | c.1628A>T (p.Glu543Val) c.1985A>T (p.Glu662Val) c.1253A>T (p.Glu418Val) c.368A>T (p.Glu123Val) n.2227+963A>T n.1235A>T c.749A>T (p.Glu250Val) | |
1 | g.55059611G>A | CA417960440 | PCSK9 | c.1629G>A (p.Glu543=) c.1986G>A (p.Glu662=) c.1254G>A (p.Glu418=) c.369G>A (p.Glu123=) n.2227+964G>A n.1236G>A c.750G>A (p.Glu250=) | |
1 | g.55059611G>C | CA340480014 | PCSK9 | c.1629G>C (p.Glu543Asp) c.1986G>C (p.Glu662Asp) c.1254G>C (p.Glu418Asp) c.369G>C (p.Glu123Asp) n.2227+964G>C n.1236G>C c.750G>C (p.Glu250Asp) | |
1 | g.55059611G>T | CA340480015 | PCSK9 | c.1629G>T (p.Glu543Asp) c.1986G>T (p.Glu662Asp) c.1254G>T (p.Glu418Asp) c.369G>T (p.Glu123Asp) n.2227+964G>T n.1236G>T c.750G>T (p.Glu250Asp) | ClinVar dbSNP |
1 | g.55059612G>A | CA22765607 | PCSK9 | c.1630G>A (p.Ala544Thr) c.1987G>A (p.Ala663Thr) c.1255G>A (p.Ala419Thr) c.370G>A (p.Ala124Thr) n.2227+965G>A n.1237G>A c.751G>A (p.Ala251Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059612G>C | CA340480016 | PCSK9 | c.1630G>C (p.Ala544Pro) c.1987G>C (p.Ala663Pro) c.1255G>C (p.Ala419Pro) c.370G>C (p.Ala124Pro) n.2227+965G>C n.1237G>C c.751G>C (p.Ala251Pro) | |
1 | g.55059612G= | CA1167984926 | PCSK9 | c.1630G= (p.Ala544=) c.1987G= (p.Ala663=) c.1255G= (p.Ala419=) c.370G= (p.Ala124=) n.2227+965G= n.1237G= c.751G= (p.Ala251=) | |
1 | g.55059612G>T | CA340480017 | PCSK9 | c.1630G>T (p.Ala544Ser) c.1987G>T (p.Ala663Ser) c.1255G>T (p.Ala419Ser) c.370G>T (p.Ala124Ser) n.2227+965G>T n.1237G>T c.751G>T (p.Ala251Ser) | gnomAD v4 |
1 | g.55059613C>A | CA340480018 | PCSK9 | c.1631C>A (p.Ala544Asp) c.1988C>A (p.Ala663Asp) c.1256C>A (p.Ala419Asp) c.371C>A (p.Ala124Asp) n.2227+966C>A n.1238C>A c.752C>A (p.Ala251Asp) | dbSNP gnomAD v2 |
1 | g.55059613C= | CA1167984927 | PCSK9 | c.1631C= (p.Ala544=) c.1988C= (p.Ala663=) c.1256C= (p.Ala419=) c.371C= (p.Ala124=) n.2227+966C= n.1238C= c.752C= (p.Ala251=) | |
1 | g.55059613C>G | CA340480019 | PCSK9 | c.1631C>G (p.Ala544Gly) c.1988C>G (p.Ala663Gly) c.1256C>G (p.Ala419Gly) c.371C>G (p.Ala124Gly) n.2227+966C>G n.1238C>G c.752C>G (p.Ala251Gly) | |
1 | g.55059613C>T | CA340480020 | PCSK9 | c.1631C>T (p.Ala544Val) c.1988C>T (p.Ala663Val) c.1256C>T (p.Ala419Val) c.371C>T (p.Ala124Val) n.2227+966C>T n.1238C>T c.752C>T (p.Ala251Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55059614C>A | CA417960441 | PCSK9 | c.1632C>A (p.Ala544=) c.1989C>A (p.Ala663=) c.1257C>A (p.Ala419=) c.372C>A (p.Ala124=) n.2227+967C>A n.1239C>A c.753C>A (p.Ala251=) | gnomAD v4 |
1 | g.55059614C>G | CA417960442 | PCSK9 | c.1632C>G (p.Ala544=) c.1989C>G (p.Ala663=) c.1257C>G (p.Ala419=) c.372C>G (p.Ala124=) n.2227+967C>G n.1239C>G c.753C>G (p.Ala251=) | |
1 | g.55059614C>T | CA417960443 | PCSK9 | c.1632C>T (p.Ala544=) c.1989C>T (p.Ala663=) c.1257C>T (p.Ala419=) c.372C>T (p.Ala124=) n.2227+967C>T n.1239C>T c.753C>T (p.Ala251=) | gnomAD v4 |
1 | g.55059615A= | CA1167984928 | PCSK9 | c.1633A= (p.Ser545=) c.1990A= (p.Ser664=) c.1258A= (p.Ser420=) c.373A= (p.Ser125=) n.2227+968A= n.1240A= c.754A= (p.Ser252=) | |
1 | g.55059615A>C | CA340480023 | PCSK9 | c.1633A>C (p.Ser545Arg) c.1990A>C (p.Ser664Arg) c.1258A>C (p.Ser420Arg) c.373A>C (p.Ser125Arg) n.2227+968A>C n.1240A>C c.754A>C (p.Ser252Arg) | dbSNP |
1 | g.55059615A>G | CA340480022 | PCSK9 | c.1633A>G (p.Ser545Gly) c.1990A>G (p.Ser664Gly) c.1258A>G (p.Ser420Gly) c.373A>G (p.Ser125Gly) n.2227+968A>G n.1240A>G c.754A>G (p.Ser252Gly) | dbSNP gnomAD v4 |
1 | g.55059615A>T | CA340480021 | PCSK9 | c.1633A>T (p.Ser545Cys) c.1990A>T (p.Ser664Cys) c.1258A>T (p.Ser420Cys) c.373A>T (p.Ser125Cys) n.2227+968A>T n.1240A>T c.754A>T (p.Ser252Cys) | |
1 | g.55059616G>A | CA340480024 | PCSK9 | c.1634G>A (p.Ser545Asn) c.1991G>A (p.Ser664Asn) c.1259G>A (p.Ser420Asn) c.374G>A (p.Ser125Asn) n.2227+969G>A n.1241G>A c.755G>A (p.Ser252Asn) | gnomAD v4 |
1 | g.55059616G>C | CA340480025 | PCSK9 | c.1634G>C (p.Ser545Thr) c.1991G>C (p.Ser664Thr) c.1259G>C (p.Ser420Thr) c.374G>C (p.Ser125Thr) n.2227+969G>C n.1241G>C c.755G>C (p.Ser252Thr) | |
1 | g.55059616G>T | CA340480026 | PCSK9 | c.1634G>T (p.Ser545Ile) c.1991G>T (p.Ser664Ile) c.1259G>T (p.Ser420Ile) c.374G>T (p.Ser125Ile) n.2227+969G>T n.1241G>T c.755G>T (p.Ser252Ile) | gnomAD v4 |
1 | g.55059617C>A | CA340480027 | PCSK9 | c.1635C>A (p.Ser545Arg) c.1992C>A (p.Ser664Arg) c.1260C>A (p.Ser420Arg) c.375C>A (p.Ser125Arg) n.2227+970C>A n.1242C>A c.756C>A (p.Ser252Arg) | gnomAD v4 |
1 | g.55059617C>G | CA340480028 | PCSK9 | c.1635C>G (p.Ser545Arg) c.1992C>G (p.Ser664Arg) c.1260C>G (p.Ser420Arg) c.375C>G (p.Ser125Arg) n.2227+970C>G n.1242C>G c.756C>G (p.Ser252Arg) | |
1 | g.55059617C>T | CA417960444 | PCSK9 | c.1635C>T (p.Ser545=) c.1992C>T (p.Ser664=) c.1260C>T (p.Ser420=) c.375C>T (p.Ser125=) n.2227+970C>T n.1242C>T c.756C>T (p.Ser252=) | |
1 | g.55059618A= | CA1167984929 | PCSK9 | c.1636A= (p.Met546=) c.1993A= (p.Met665=) c.1261A= (p.Met421=) c.376A= (p.Met126=) n.2227+971A= n.1243A= c.757A= (p.Met253=) | |
1 | g.55059618A>C | CA340480029 | PCSK9 | c.1636A>C (p.Met546Leu) c.1993A>C (p.Met665Leu) c.1261A>C (p.Met421Leu) c.376A>C (p.Met126Leu) n.2227+971A>C n.1243A>C c.757A>C (p.Met253Leu) | |
1 | g.55059618A>G | CA340480030 | PCSK9 | c.1636A>G (p.Met546Val) c.1993A>G (p.Met665Val) c.1261A>G (p.Met421Val) c.376A>G (p.Met126Val) n.2227+971A>G n.1243A>G c.757A>G (p.Met253Val) | dbSNP |
1 | g.55059618A>T | CA340480031 | PCSK9 | c.1636A>T (p.Met546Leu) c.1993A>T (p.Met665Leu) c.1261A>T (p.Met421Leu) c.376A>T (p.Met126Leu) n.2227+971A>T n.1243A>T c.757A>T (p.Met253Leu) | gnomAD v4 |
1 | g.55059619del | CA2743686126 | PCSK9 | c.1637del (p.Met546ArgfsTer18) c.1994del (p.Met665ArgfsTer?) c.1262del (p.Met421ArgfsTer?) c.377del (p.Met126ArgfsTer18) c.1637del (p.Met546ArgfsTer?) n.2227+972del n.1244del c.758del (p.Met253ArgfsTer?) | |
1 | g.55059619T>A | CA340480032 | PCSK9 | c.1637T>A (p.Met546Lys) c.1994T>A (p.Met665Lys) c.1262T>A (p.Met421Lys) c.377T>A (p.Met126Lys) n.2227+972T>A n.1244T>A c.758T>A (p.Met253Lys) | |
1 | g.55059619T>C | CA340480033 | PCSK9 | c.1637T>C (p.Met546Thr) c.1994T>C (p.Met665Thr) c.1262T>C (p.Met421Thr) c.377T>C (p.Met126Thr) n.2227+972T>C n.1244T>C c.758T>C (p.Met253Thr) | |
1 | g.55059619T>G | CA340480034 | PCSK9 | c.1637T>G (p.Met546Arg) c.1994T>G (p.Met665Arg) c.1262T>G (p.Met421Arg) c.377T>G (p.Met126Arg) n.2227+972T>G n.1244T>G c.758T>G (p.Met253Arg) | gnomAD v4 |
1 | g.55059620G>A | CA340480037 | PCSK9 | c.1638G>A (p.Met546Ile) c.1995G>A (p.Met665Ile) c.1263G>A (p.Met421Ile) c.378G>A (p.Met126Ile) n.2227+973G>A n.1245G>A c.759G>A (p.Met253Ile) | ClinVar dbSNP gnomAD v2 |
1 | g.55059620G>C | CA340480036 | PCSK9 | c.1638G>C (p.Met546Ile) c.1995G>C (p.Met665Ile) c.1263G>C (p.Met421Ile) c.378G>C (p.Met126Ile) n.2227+973G>C n.1245G>C c.759G>C (p.Met253Ile) | |
1 | g.55059620G= | CA1167984930 | PCSK9 | c.1638G= (p.Met546=) c.1995G= (p.Met665=) c.1263G= (p.Met421=) c.378G= (p.Met126=) n.2227+973G= n.1245G= c.759G= (p.Met253=) | |
1 | g.55059620G>T | CA340480035 | PCSK9 | c.1638G>T (p.Met546Ile) c.1995G>T (p.Met665Ile) c.1263G>T (p.Met421Ile) c.378G>T (p.Met126Ile) n.2227+973G>T n.1245G>T c.759G>T (p.Met253Ile) | gnomAD v4 |
1 | g.55059621G>A | CA340480038 | PCSK9 | c.1639G>A (p.Gly547Arg) c.1996G>A (p.Gly666Arg) c.1264G>A (p.Gly422Arg) c.379G>A (p.Gly127Arg) n.2227+974G>A n.1246G>A c.760G>A (p.Gly254Arg) | dbSNP gnomAD v4 |
1 | g.55059621G>C | CA340480039 | PCSK9 | c.1639G>C (p.Gly547Arg) c.1996G>C (p.Gly666Arg) c.1264G>C (p.Gly422Arg) c.379G>C (p.Gly127Arg) n.2227+974G>C n.1246G>C c.760G>C (p.Gly254Arg) | |
1 | g.55059621G= | CA1167984931 | PCSK9 | c.1639G= (p.Gly547=) c.1996G= (p.Gly666=) c.1264G= (p.Gly422=) c.379G= (p.Gly127=) n.2227+974G= n.1246G= c.760G= (p.Gly254=) | |
1 | g.55059621G>T | CA340480040 | PCSK9 | c.1639G>T (p.Gly547Trp) c.1996G>T (p.Gly666Trp) c.1264G>T (p.Gly422Trp) c.379G>T (p.Gly127Trp) n.2227+974G>T n.1246G>T c.760G>T (p.Gly254Trp) | gnomAD v4 |
1 | g.55059622G>A | CA038188 | PCSK9 | c.1640G>A (p.Gly547Glu) c.1997G>A (p.Gly666Glu) c.1265G>A (p.Gly422Glu) c.380G>A (p.Gly127Glu) n.2227+975G>A n.1247G>A c.761G>A (p.Gly254Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059622G>C | CA340480041 | PCSK9 | c.1640G>C (p.Gly547Ala) c.1997G>C (p.Gly666Ala) c.1265G>C (p.Gly422Ala) c.380G>C (p.Gly127Ala) n.2227+975G>C n.1247G>C c.761G>C (p.Gly254Ala) | |
1 | g.55059622G= | CA1167984932 | PCSK9 | c.1640G= (p.Gly547=) c.1997G= (p.Gly666=) c.1265G= (p.Gly422=) c.380G= (p.Gly127=) n.2227+975G= n.1247G= c.761G= (p.Gly254=) | |
1 | g.55059622G>T | CA340480042 | PCSK9 | c.1640G>T (p.Gly547Val) c.1997G>T (p.Gly666Val) c.1265G>T (p.Gly422Val) c.380G>T (p.Gly127Val) n.2227+975G>T n.1247G>T c.761G>T (p.Gly254Val) | gnomAD v4 |
1 | g.55059623G>A | CA417960445 | PCSK9 | c.1641G>A (p.Gly547=) c.1998G>A (p.Gly666=) c.1266G>A (p.Gly422=) c.381G>A (p.Gly127=) n.2227+976G>A n.1248G>A c.762G>A (p.Gly254=) | gnomAD v4 |
1 | g.55059623G>C | CA417960446 | PCSK9 | c.1641G>C (p.Gly547=) c.1998G>C (p.Gly666=) c.1266G>C (p.Gly422=) c.381G>C (p.Gly127=) n.2227+976G>C n.1248G>C c.762G>C (p.Gly254=) | |
1 | g.55059623G>T | CA417960447 | PCSK9 | c.1641G>T (p.Gly547=) c.1998G>T (p.Gly666=) c.1266G>T (p.Gly422=) c.381G>T (p.Gly127=) n.2227+976G>T n.1248G>T c.762G>T (p.Gly254=) | gnomAD v4 |
1 | g.55059624A= | CA1167984933 | PCSK9 | c.1642A= (p.Thr548=) c.1999A= (p.Thr667=) c.1267A= (p.Thr423=) c.382A= (p.Thr128=) n.2227+977A= n.1249A= c.763A= (p.Thr255=) | |
1 | g.55059624A>C | CA340480043 | PCSK9 | c.1642A>C (p.Thr548Pro) c.1999A>C (p.Thr667Pro) c.1267A>C (p.Thr423Pro) c.382A>C (p.Thr128Pro) n.2227+977A>C n.1249A>C c.763A>C (p.Thr255Pro) | dbSNP |
1 | g.55059624A>G | CA340480044 | PCSK9 | c.1642A>G (p.Thr548Ala) c.1999A>G (p.Thr667Ala) c.1267A>G (p.Thr423Ala) c.382A>G (p.Thr128Ala) n.2227+977A>G n.1249A>G c.763A>G (p.Thr255Ala) | |
1 | g.55059624A>T | CA340480045 | PCSK9 | c.1642A>T (p.Thr548Ser) c.1999A>T (p.Thr667Ser) c.1267A>T (p.Thr423Ser) c.382A>T (p.Thr128Ser) n.2227+977A>T n.1249A>T c.763A>T (p.Thr255Ser) | gnomAD v4 |
1 | g.55059625C>A | CA038205 | PCSK9 | c.1643C>A (p.Thr548Asn) c.2000C>A (p.Thr667Asn) c.1268C>A (p.Thr423Asn) c.383C>A (p.Thr128Asn) n.2227+978C>A n.1250C>A c.764C>A (p.Thr255Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059625C= | CA1143578440 | PCSK9 | c.1643C= (p.Thr548=) c.2000C= (p.Thr667=) c.1268C= (p.Thr423=) c.383C= (p.Thr128=) n.2227+978C= n.1250C= c.764C= (p.Thr255=) | |
1 | g.55059625C>G | CA340480046 | PCSK9 | c.1643C>G (p.Thr548Ser) c.2000C>G (p.Thr667Ser) c.1268C>G (p.Thr423Ser) c.383C>G (p.Thr128Ser) n.2227+978C>G n.1250C>G c.764C>G (p.Thr255Ser) | |
1 | g.55059625C>T | CA340480047 | PCSK9 | c.1643C>T (p.Thr548Ile) c.2000C>T (p.Thr667Ile) c.1268C>T (p.Thr423Ile) c.383C>T (p.Thr128Ile) n.2227+978C>T n.1250C>T c.764C>T (p.Thr255Ile) | |
1 | g.55059626C>A | CA417960448 | PCSK9 | c.1644C>A (p.Thr548=) c.2001C>A (p.Thr667=) c.1269C>A (p.Thr423=) c.384C>A (p.Thr128=) n.2227+979C>A n.1251C>A c.765C>A (p.Thr255=) | |
1 | g.55059626C>G | CA417960449 | PCSK9 | c.1644C>G (p.Thr548=) c.2001C>G (p.Thr667=) c.1269C>G (p.Thr423=) c.384C>G (p.Thr128=) n.2227+979C>G n.1251C>G c.765C>G (p.Thr255=) | |
1 | g.55059626C>T | CA417960450 | PCSK9 | c.1644C>T (p.Thr548=) c.2001C>T (p.Thr667=) c.1269C>T (p.Thr423=) c.384C>T (p.Thr128=) n.2227+979C>T n.1251C>T c.765C>T (p.Thr255=) | gnomAD v4 COSMIC |
1 | g.55059627C>A | CA340480049 | PCSK9 | c.1645C>A (p.Arg549Ser) c.2002C>A (p.Arg668Ser) c.1270C>A (p.Arg424Ser) c.385C>A (p.Arg129Ser) n.2227+980C>A n.1252C>A c.766C>A (p.Arg256Ser) | gnomAD v4 |
1 | g.55059627C= | CA1167984934 | PCSK9 | c.1645C= (p.Arg549=) c.2002C= (p.Arg668=) c.1270C= (p.Arg424=) c.385C= (p.Arg129=) n.2227+980C= n.1252C= c.766C= (p.Arg256=) | |
1 | g.55059627C>G | CA340480048 | PCSK9 | c.1645C>G (p.Arg549Gly) c.2002C>G (p.Arg668Gly) c.1270C>G (p.Arg424Gly) c.385C>G (p.Arg129Gly) n.2227+980C>G n.1252C>G c.766C>G (p.Arg256Gly) | |
1 | g.55059627C>T | CA038220 | PCSK9 | c.1645C>T (p.Arg549Cys) c.2002C>T (p.Arg668Cys) c.1270C>T (p.Arg424Cys) c.385C>T (p.Arg129Cys) n.2227+980C>T n.1252C>T c.766C>T (p.Arg256Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059628G>A | CA038232 | PCSK9 | c.1646G>A (p.Arg549His) c.2003G>A (p.Arg668His) c.1271G>A (p.Arg424His) c.386G>A (p.Arg129His) n.2227+981G>A n.1253G>A c.767G>A (p.Arg256His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059628G>C | CA340480050 | PCSK9 | c.1646G>C (p.Arg549Pro) c.2003G>C (p.Arg668Pro) c.1271G>C (p.Arg424Pro) c.386G>C (p.Arg129Pro) n.2227+981G>C n.1253G>C c.767G>C (p.Arg256Pro) | dbSNP |
1 | g.55059628G= | CA1141200630 | PCSK9 | c.1646G= (p.Arg549=) c.2003G= (p.Arg668=) c.1271G= (p.Arg424=) c.386G= (p.Arg129=) n.2227+981G= n.1253G= c.767G= (p.Arg256=) | |
1 | g.55059628G>T | CA340480051 | PCSK9 | c.1646G>T (p.Arg549Leu) c.2003G>T (p.Arg668Leu) c.1271G>T (p.Arg424Leu) c.386G>T (p.Arg129Leu) n.2227+981G>T n.1253G>T c.767G>T (p.Arg256Leu) | ClinVar gnomAD v4 |
1 | g.55059629T>A | CA417960451 | PCSK9 | c.1647T>A (p.Arg549=) c.2004T>A (p.Arg668=) c.1272T>A (p.Arg424=) c.387T>A (p.Arg129=) n.2227+982T>A n.1254T>A c.768T>A (p.Arg256=) | |
1 | g.55059629T>C | CA417960452 | PCSK9 | c.1647T>C (p.Arg549=) c.2004T>C (p.Arg668=) c.1272T>C (p.Arg424=) c.387T>C (p.Arg129=) n.2227+982T>C n.1254T>C c.768T>C (p.Arg256=) | |
1 | g.55059629T>G | CA417960453 | PCSK9 | c.1647T>G (p.Arg549=) c.2004T>G (p.Arg668=) c.1272T>G (p.Arg424=) c.387T>G (p.Arg129=) n.2227+982T>G n.1254T>G c.768T>G (p.Arg256=) | |
1 | g.55059630G>A | CA340480052 | PCSK9 | c.1648G>A (p.Val550Ile) c.2005G>A (p.Val669Ile) c.1273G>A (p.Val425Ile) c.388G>A (p.Val130Ile) n.2227+983G>A n.1255G>A c.769G>A (p.Val257Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55059630G>C | CA340480053 | PCSK9 | c.1648G>C (p.Val550Leu) c.2005G>C (p.Val669Leu) c.1273G>C (p.Val425Leu) c.388G>C (p.Val130Leu) n.2227+983G>C n.1255G>C c.769G>C (p.Val257Leu) | |
1 | g.55059630G= | CA1167984935 | PCSK9 | c.1648G= (p.Val550=) c.2005G= (p.Val669=) c.1273G= (p.Val425=) c.388G= (p.Val130=) n.2227+983G= n.1255G= c.769G= (p.Val257=) | |
1 | g.55059630G>T | CA340480054 | PCSK9 | c.1648G>T (p.Val550Phe) c.2005G>T (p.Val669Phe) c.1273G>T (p.Val425Phe) c.388G>T (p.Val130Phe) n.2227+983G>T n.1255G>T c.769G>T (p.Val257Phe) | |
1 | g.55059631T>A | CA340480055 | PCSK9 | c.1649T>A (p.Val550Asp) c.2006T>A (p.Val669Asp) c.1274T>A (p.Val425Asp) c.389T>A (p.Val130Asp) n.2227+984T>A n.1256T>A c.770T>A (p.Val257Asp) | |
1 | g.55059631T>C | CA340480056 | PCSK9 | c.1649T>C (p.Val550Ala) c.2006T>C (p.Val669Ala) c.1274T>C (p.Val425Ala) c.389T>C (p.Val130Ala) n.2227+984T>C n.1256T>C c.770T>C (p.Val257Ala) | |
1 | g.55059631T>G | CA340480057 | PCSK9 | c.1649T>G (p.Val550Gly) c.2006T>G (p.Val669Gly) c.1274T>G (p.Val425Gly) c.389T>G (p.Val130Gly) n.2227+984T>G n.1256T>G c.770T>G (p.Val257Gly) | |
1 | g.55059632C>A | CA417960454 | PCSK9 | c.1650C>A (p.Val550=) c.2007C>A (p.Val669=) c.1275C>A (p.Val425=) c.390C>A (p.Val130=) n.2227+985C>A n.1257C>A c.771C>A (p.Val257=) | gnomAD v4 |
1 | g.55059632C>G | CA417960455 | PCSK9 | c.1650C>G (p.Val550=) c.2007C>G (p.Val669=) c.1275C>G (p.Val425=) c.390C>G (p.Val130=) n.2227+985C>G n.1257C>G c.771C>G (p.Val257=) | |
1 | g.55059632C>T | CA417960456 | PCSK9 | c.1650C>T (p.Val550=) c.2007C>T (p.Val669=) c.1275C>T (p.Val425=) c.390C>T (p.Val130=) n.2227+985C>T n.1257C>T c.771C>T (p.Val257=) | |
1 | g.55059633C>A | CA340480058 | PCSK9 | c.1651C>A (p.His551Asn) c.2008C>A (p.His670Asn) c.1276C>A (p.His426Asn) c.391C>A (p.His131Asn) n.2227+986C>A n.1258C>A c.772C>A (p.His258Asn) | gnomAD v4 |
1 | g.55059633C>G | CA340480059 | PCSK9 | c.1651C>G (p.His551Asp) c.2008C>G (p.His670Asp) c.1276C>G (p.His426Asp) c.391C>G (p.His131Asp) n.2227+986C>G n.1258C>G c.772C>G (p.His258Asp) | |
1 | g.55059633C>T | CA340480060 | PCSK9 | c.1651C>T (p.His551Tyr) c.2008C>T (p.His670Tyr) c.1276C>T (p.His426Tyr) c.391C>T (p.His131Tyr) n.2227+986C>T n.1258C>T c.772C>T (p.His258Tyr) | gnomAD v4 |
1 | g.55059634A= | CA1167984936 | PCSK9 | c.1652A= (p.His551=) c.2009A= (p.His670=) c.1277A= (p.His426=) c.392A= (p.His131=) n.2227+987A= n.1259A= c.773A= (p.His258=) | |
1 | g.55059634A>C | CA340480063 | PCSK9 | c.1652A>C (p.His551Pro) c.2009A>C (p.His670Pro) c.1277A>C (p.His426Pro) c.392A>C (p.His131Pro) n.2227+987A>C n.1259A>C c.773A>C (p.His258Pro) | |
1 | g.55059634A>G | CA340480062 | PCSK9 | c.1652A>G (p.His551Arg) c.2009A>G (p.His670Arg) c.1277A>G (p.His426Arg) c.392A>G (p.His131Arg) n.2227+987A>G n.1259A>G c.773A>G (p.His258Arg) | |
1 | g.55059634A>T | CA340480061 | PCSK9 | c.1652A>T (p.His551Leu) c.2009A>T (p.His670Leu) c.1277A>T (p.His426Leu) c.392A>T (p.His131Leu) n.2227+987A>T n.1259A>T c.773A>T (p.His258Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059635C>A | CA340480065 | PCSK9 | c.1653C>A (p.His551Gln) c.2010C>A (p.His670Gln) c.1278C>A (p.His426Gln) c.393C>A (p.His131Gln) n.2227+988C>A n.1260C>A c.774C>A (p.His258Gln) | gnomAD v4 |
1 | g.55059635C>G | CA340480064 | PCSK9 | c.1653C>G (p.His551Gln) c.2010C>G (p.His670Gln) c.1278C>G (p.His426Gln) c.393C>G (p.His131Gln) n.2227+988C>G n.1260C>G c.774C>G (p.His258Gln) | ClinVar |
1 | g.55059635C>T | CA417960457 | PCSK9 | c.1653C>T (p.His551=) c.2010C>T (p.His670=) c.1278C>T (p.His426=) c.393C>T (p.His131=) n.2227+988C>T n.1260C>T c.774C>T (p.His258=) | gnomAD v4 |
1 | g.55059636T>A | CA340480068 | PCSK9 | c.1654T>A (p.Cys552Ser) c.2011T>A (p.Cys671Ser) c.1279T>A (p.Cys427Ser) c.394T>A (p.Cys132Ser) n.2227+989T>A n.1261T>A c.775T>A (p.Cys259Ser) | gnomAD v4 |
1 | g.55059636T>C | CA340480066 | PCSK9 | c.1654T>C (p.Cys552Arg) c.2011T>C (p.Cys671Arg) c.1279T>C (p.Cys427Arg) c.394T>C (p.Cys132Arg) n.2227+989T>C n.1261T>C c.775T>C (p.Cys259Arg) | |
1 | g.55059636T>G | CA340480067 | PCSK9 | c.1654T>G (p.Cys552Gly) c.2011T>G (p.Cys671Gly) c.1279T>G (p.Cys427Gly) c.394T>G (p.Cys132Gly) n.2227+989T>G n.1261T>G c.775T>G (p.Cys259Gly) | dbSNP |
1 | g.55059637G>A | CA340480069 | PCSK9 | c.1655G>A (p.Cys552Tyr) c.2012G>A (p.Cys671Tyr) c.1280G>A (p.Cys427Tyr) c.395G>A (p.Cys132Tyr) n.2227+990G>A n.1262G>A c.776G>A (p.Cys259Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55059637G>C | CA340480070 | PCSK9 | c.1655G>C (p.Cys552Ser) c.2012G>C (p.Cys671Ser) c.1280G>C (p.Cys427Ser) c.395G>C (p.Cys132Ser) n.2227+990G>C n.1262G>C c.776G>C (p.Cys259Ser) | |
1 | g.55059637G= | CA1167984937 | PCSK9 | c.1655G= (p.Cys552=) c.2012G= (p.Cys671=) c.1280G= (p.Cys427=) c.395G= (p.Cys132=) n.2227+990G= n.1262G= c.776G= (p.Cys259=) | |
1 | g.55059637G>T | CA340480071 | PCSK9 | c.1655G>T (p.Cys552Phe) c.2012G>T (p.Cys671Phe) c.1280G>T (p.Cys427Phe) c.395G>T (p.Cys132Phe) n.2227+990G>T n.1262G>T c.776G>T (p.Cys259Phe) | gnomAD v4 |
1 | g.55059638C>A | CA340480072 | PCSK9 | c.1656C>A (p.Cys552Ter) c.2013C>A (p.Cys671Ter) c.1281C>A (p.Cys427Ter) c.396C>A (p.Cys132Ter) n.2227+991C>A n.1263C>A c.777C>A (p.Cys259Ter) | gnomAD v4 |
1 | g.55059638C= | CA1167984938 | PCSK9 | c.1656C= (p.Cys552=) c.2013C= (p.Cys671=) c.1281C= (p.Cys427=) c.396C= (p.Cys132=) n.2227+991C= n.1263C= c.777C= (p.Cys259=) | |
1 | g.55059638C>G | CA340480073 | PCSK9 | c.1656C>G (p.Cys552Trp) c.2013C>G (p.Cys671Trp) c.1281C>G (p.Cys427Trp) c.396C>G (p.Cys132Trp) n.2227+991C>G n.1263C>G c.777C>G (p.Cys259Trp) | |
1 | g.55059638C>T | CA417960458 | PCSK9 | c.1656C>T (p.Cys552=) c.2013C>T (p.Cys671=) c.1281C>T (p.Cys427=) c.396C>T (p.Cys132=) n.2227+991C>T n.1263C>T c.777C>T (p.Cys259=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55059639C>A | CA340480074 | PCSK9 | c.1657C>A (p.His553Asn) c.2014C>A (p.His672Asn) c.1282C>A (p.His428Asn) c.397C>A (p.His133Asn) n.2227+992C>A n.1264C>A c.778C>A (p.His260Asn) | gnomAD v4 |
1 | g.55059639C= | CA1167984939 | PCSK9 | c.1657C= (p.His553=) c.2014C= (p.His672=) c.1282C= (p.His428=) c.397C= (p.His133=) n.2227+992C= n.1264C= c.778C= (p.His260=) | |
1 | g.55059639C>G | CA340480075 | PCSK9 | c.1657C>G (p.His553Asp) c.2014C>G (p.His672Asp) c.1282C>G (p.His428Asp) c.397C>G (p.His133Asp) n.2227+992C>G n.1264C>G c.778C>G (p.His260Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.55059639C>T | CA340480076 | PCSK9 | c.1657C>T (p.His553Tyr) c.2014C>T (p.His672Tyr) c.1282C>T (p.His428Tyr) c.397C>T (p.His133Tyr) n.2227+992C>T n.1264C>T c.778C>T (p.His260Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55059640A= | CA1140475695 | PCSK9 | c.1658A= (p.His553=) c.2015A= (p.His672=) c.1283A= (p.His428=) c.398A= (p.His133=) n.2227+993A= n.1265A= c.779A= (p.His260=) | |
1 | g.55059640A>C | CA340480077 | PCSK9 | c.1658A>C (p.His553Pro) c.2015A>C (p.His672Pro) c.1283A>C (p.His428Pro) c.398A>C (p.His133Pro) n.2227+993A>C n.1265A>C c.779A>C (p.His260Pro) | dbSNP |
1 | g.55059640A>G | CA038250 | PCSK9 | c.1658A>G (p.His553Arg) c.2015A>G (p.His672Arg) c.1283A>G (p.His428Arg) c.398A>G (p.His133Arg) n.2227+993A>G n.1265A>G c.779A>G (p.His260Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059640A>T | CA340480078 | PCSK9 | c.1658A>T (p.His553Leu) c.2015A>T (p.His672Leu) c.1283A>T (p.His428Leu) c.398A>T (p.His133Leu) n.2227+993A>T n.1265A>T c.779A>T (p.His260Leu) | |
1 | g.55059641C>A | CA340480079 | PCSK9 | c.1659C>A (p.His553Gln) c.2016C>A (p.His672Gln) c.1284C>A (p.His428Gln) c.399C>A (p.His133Gln) n.2227+994C>A n.1266C>A c.780C>A (p.His260Gln) | gnomAD v4 |
1 | g.55059641C>G | CA340480080 | PCSK9 | c.1659C>G (p.His553Gln) c.2016C>G (p.His672Gln) c.1284C>G (p.His428Gln) c.399C>G (p.His133Gln) n.2227+994C>G n.1266C>G c.780C>G (p.His260Gln) | gnomAD v4 |
1 | g.55059641C>T | CA417960459 | PCSK9 | c.1659C>T (p.His553=) c.2016C>T (p.His672=) c.1284C>T (p.His428=) c.399C>T (p.His133=) n.2227+994C>T n.1266C>T c.780C>T (p.His260=) | gnomAD v4 |
1 | g.55059642C>A | CA22765647 | PCSK9 | c.1660C>A (p.Gln554Lys) c.2017C>A (p.Gln673Lys) c.1285C>A (p.Gln429Lys) c.400C>A (p.Gln134Lys) n.2227+995C>A n.1267C>A c.781C>A (p.Gln261Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059642C= | CA1142294558 | PCSK9 | c.1660C= (p.Gln554=) c.2017C= (p.Gln673=) c.1285C= (p.Gln429=) c.400C= (p.Gln134=) n.2227+995C= n.1267C= c.781C= (p.Gln261=) | |
1 | g.55059642C>G | CA038270 | PCSK9 | c.1660C>G (p.Gln554Glu) c.2017C>G (p.Gln673Glu) c.1285C>G (p.Gln429Glu) c.400C>G (p.Gln134Glu) n.2227+995C>G n.1267C>G c.781C>G (p.Gln261Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059642C>T | CA340480081 | PCSK9 | c.1660C>T (p.Gln554Ter) c.2017C>T (p.Gln673Ter) c.1285C>T (p.Gln429Ter) c.400C>T (p.Gln134Ter) n.2227+995C>T n.1267C>T c.781C>T (p.Gln261Ter) | ClinVar |
1 | g.55059643A>C | CA340480082 | PCSK9 | c.1661A>C (p.Gln554Pro) c.2018A>C (p.Gln673Pro) c.1286A>C (p.Gln429Pro) c.401A>C (p.Gln134Pro) n.2227+996A>C n.1268A>C c.782A>C (p.Gln261Pro) | |
1 | g.55059643A>G | CA340480083 | PCSK9 | c.1661A>G (p.Gln554Arg) c.2018A>G (p.Gln673Arg) c.1286A>G (p.Gln429Arg) c.401A>G (p.Gln134Arg) n.2227+996A>G n.1268A>G c.782A>G (p.Gln261Arg) | COSMIC |
1 | g.55059643A>T | CA340480084 | PCSK9 | c.1661A>T (p.Gln554Leu) c.2018A>T (p.Gln673Leu) c.1286A>T (p.Gln429Leu) c.401A>T (p.Gln134Leu) n.2227+996A>T n.1268A>T c.782A>T (p.Gln261Leu) | |
1 | g.55059644A>C | CA340480085 | PCSK9 | c.1662A>C (p.Gln554His) c.2019A>C (p.Gln673His) c.1287A>C (p.Gln429His) c.402A>C (p.Gln134His) n.2227+997A>C n.1269A>C c.783A>C (p.Gln261His) | |
1 | g.55059644A>G | CA417960460 | PCSK9 | c.1662A>G (p.Gln554=) c.2019A>G (p.Gln673=) c.1287A>G (p.Gln429=) c.402A>G (p.Gln134=) n.2227+997A>G n.1269A>G c.783A>G (p.Gln261=) | |
1 | g.55059644A>T | CA340480086 | PCSK9 | c.1662A>T (p.Gln554His) c.2019A>T (p.Gln673His) c.1287A>T (p.Gln429His) c.402A>T (p.Gln134His) n.2227+997A>T n.1269A>T c.783A>T (p.Gln261His) | |
1 | g.55059645C>A | CA340480087 | PCSK9 | c.1663C>A (p.Gln555Lys) c.2020C>A (p.Gln674Lys) c.1288C>A (p.Gln430Lys) c.403C>A (p.Gln135Lys) n.2227+998C>A n.1270C>A c.784C>A (p.Gln262Lys) | |
1 | g.55059645C>G | CA340480088 | PCSK9 | c.1663C>G (p.Gln555Glu) c.2020C>G (p.Gln674Glu) c.1288C>G (p.Gln430Glu) c.403C>G (p.Gln135Glu) n.2227+998C>G n.1270C>G c.784C>G (p.Gln262Glu) | gnomAD v4 |
1 | g.55059645C>T | CA340480089 | PCSK9 | c.1663C>T (p.Gln555Ter) c.2020C>T (p.Gln674Ter) c.1288C>T (p.Gln430Ter) c.403C>T (p.Gln135Ter) n.2227+998C>T n.1270C>T c.784C>T (p.Gln262Ter) | gnomAD v4 |
1 | g.55059646A>C | CA340480091 | PCSK9 | c.1664A>C (p.Gln555Pro) c.2021A>C (p.Gln674Pro) c.1289A>C (p.Gln430Pro) c.404A>C (p.Gln135Pro) n.2227+999A>C n.1271A>C c.785A>C (p.Gln262Pro) | |
1 | g.55059646A>G | CA340480092 | PCSK9 | c.1664A>G (p.Gln555Arg) c.2021A>G (p.Gln674Arg) c.1289A>G (p.Gln430Arg) c.404A>G (p.Gln135Arg) n.2227+999A>G n.1271A>G c.785A>G (p.Gln262Arg) | gnomAD v4 |
1 | g.55059646A>T | CA340480090 | PCSK9 | c.1664A>T (p.Gln555Leu) c.2021A>T (p.Gln674Leu) c.1289A>T (p.Gln430Leu) c.404A>T (p.Gln135Leu) n.2227+999A>T n.1271A>T c.785A>T (p.Gln262Leu) | |
1 | g.55059646_55059648del | CA2695888607 | PCSK9 | c.1664_1666del (p.Gln555_Gly556delinsArg) c.2021_2023del (p.Gln674_Gly675delinsArg) c.1289_1291del (p.Gln430_Gly431delinsArg) c.404_406del (p.Gln135_Gly136delinsArg) n.2227+999_2227+1001del n.1271_1273del c.785_787del (p.Gln262_Gly263delinsArg) | dbSNP |
1 | g.55059647G>A | CA417960461 | PCSK9 | c.1665G>A (p.Gln555=) c.2022G>A (p.Gln674=) c.1290G>A (p.Gln430=) c.405G>A (p.Gln135=) n.2227+1000G>A n.1272G>A c.786G>A (p.Gln262=) | gnomAD v4 |
1 | g.55059647G>C | CA340480093 | PCSK9 | c.1665G>C (p.Gln555His) c.2022G>C (p.Gln674His) c.1290G>C (p.Gln430His) c.405G>C (p.Gln135His) n.2227+1000G>C n.1272G>C c.786G>C (p.Gln262His) | dbSNP |
1 | g.55059647G= | CA1167984940 | PCSK9 | c.1665G= (p.Gln555=) c.2022G= (p.Gln674=) c.1290G= (p.Gln430=) c.405G= (p.Gln135=) n.2227+1000G= n.1272G= c.786G= (p.Gln262=) | |
1 | g.55059647G>T | CA340480094 | PCSK9 | c.1665G>T (p.Gln555His) c.2022G>T (p.Gln674His) c.1290G>T (p.Gln430His) c.405G>T (p.Gln135His) n.2227+1000G>T n.1272G>T c.786G>T (p.Gln262His) | gnomAD v4 |
1 | g.55059648G>A | CA340480095 | PCSK9 | c.1666G>A (p.Gly556Ser) c.2023G>A (p.Gly675Ser) c.1291G>A (p.Gly431Ser) c.406G>A (p.Gly136Ser) n.2227+1001G>A n.1273G>A c.787G>A (p.Gly263Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55059648G>C | CA340480096 | PCSK9 | c.1666G>C (p.Gly556Arg) c.2023G>C (p.Gly675Arg) c.1291G>C (p.Gly431Arg) c.406G>C (p.Gly136Arg) n.2227+1001G>C n.1273G>C c.787G>C (p.Gly263Arg) | |
1 | g.55059648G= | CA1167984941 | PCSK9 | c.1666G= (p.Gly556=) c.2023G= (p.Gly675=) c.1291G= (p.Gly431=) c.406G= (p.Gly136=) n.2227+1001G= n.1273G= c.787G= (p.Gly263=) | |
1 | g.55059648G>T | CA340480097 | PCSK9 | c.1666G>T (p.Gly556Cys) c.2023G>T (p.Gly675Cys) c.1291G>T (p.Gly431Cys) c.406G>T (p.Gly136Cys) n.2227+1001G>T n.1273G>T c.787G>T (p.Gly263Cys) | gnomAD v4 |
1 | g.55059649G>A | CA340480100 | PCSK9 | c.1667G>A (p.Gly556Asp) c.2024G>A (p.Gly675Asp) c.1292G>A (p.Gly431Asp) c.407G>A (p.Gly136Asp) n.2227+1002G>A n.1274G>A c.788G>A (p.Gly263Asp) | gnomAD v4 |
1 | g.55059649G>C | CA340480099 | PCSK9 | c.1667G>C (p.Gly556Ala) c.2024G>C (p.Gly675Ala) c.1292G>C (p.Gly431Ala) c.407G>C (p.Gly136Ala) n.2227+1002G>C n.1274G>C c.788G>C (p.Gly263Ala) | |
1 | g.55059649G>T | CA340480098 | PCSK9 | c.1667G>T (p.Gly556Val) c.2024G>T (p.Gly675Val) c.1292G>T (p.Gly431Val) c.407G>T (p.Gly136Val) n.2227+1002G>T n.1274G>T c.788G>T (p.Gly263Val) | gnomAD v4 |
1 | g.55059650C>A | CA417960462 | PCSK9 | c.1668C>A (p.Gly556=) c.2025C>A (p.Gly675=) c.1293C>A (p.Gly431=) c.408C>A (p.Gly136=) n.2227+1003C>A n.1275C>A c.789C>A (p.Gly263=) | ClinVar dbSNP gnomAD v4 |
1 | g.55059650C= | CA1167984942 | PCSK9 | c.1668C= (p.Gly556=) c.2025C= (p.Gly675=) c.1293C= (p.Gly431=) c.408C= (p.Gly136=) n.2227+1003C= n.1275C= c.789C= (p.Gly263=) | |
1 | g.55059650C>G | CA417960463 | PCSK9 | c.1668C>G (p.Gly556=) c.2025C>G (p.Gly675=) c.1293C>G (p.Gly431=) c.408C>G (p.Gly136=) n.2227+1003C>G n.1275C>G c.789C>G (p.Gly263=) | |
1 | g.55059650C>T | CA417960464 | PCSK9 | c.1668C>T (p.Gly556=) c.2025C>T (p.Gly675=) c.1293C>T (p.Gly431=) c.408C>T (p.Gly136=) n.2227+1003C>T n.1275C>T c.789C>T (p.Gly263=) | ClinVar dbSNP |
1 | g.55059651C>A | CA340480101 | PCSK9 | c.1669C>A (p.His557Asn) c.2026C>A (p.His676Asn) c.1294C>A (p.His432Asn) c.409C>A (p.His137Asn) n.2227+1004C>A n.1276C>A c.790C>A (p.His264Asn) | |
1 | g.55059651C= | CA1167984943 | PCSK9 | c.1669C= (p.His557=) c.2026C= (p.His676=) c.1294C= (p.His432=) c.409C= (p.His137=) n.2227+1004C= n.1276C= c.790C= (p.His264=) | |
1 | g.55059651C>G | CA340480102 | PCSK9 | c.1669C>G (p.His557Asp) c.2026C>G (p.His676Asp) c.1294C>G (p.His432Asp) c.409C>G (p.His137Asp) n.2227+1004C>G n.1276C>G c.790C>G (p.His264Asp) | |
1 | g.55059651C>T | CA340480103 | PCSK9 | c.1669C>T (p.His557Tyr) c.2026C>T (p.His676Tyr) c.1294C>T (p.His432Tyr) c.409C>T (p.His137Tyr) n.2227+1004C>T n.1276C>T c.790C>T (p.His264Tyr) | dbSNP gnomAD v2 |
1 | g.55059652A>C | CA340480104 | PCSK9 | c.1670A>C (p.His557Pro) c.2027A>C (p.His676Pro) c.1295A>C (p.His432Pro) c.410A>C (p.His137Pro) n.2227+1005A>C n.1277A>C c.791A>C (p.His264Pro) | |
1 | g.55059652A>G | CA340480105 | PCSK9 | c.1670A>G (p.His557Arg) c.2027A>G (p.His676Arg) c.1295A>G (p.His432Arg) c.410A>G (p.His137Arg) n.2227+1005A>G n.1277A>G c.791A>G (p.His264Arg) | gnomAD v4 |
1 | g.55059652A>T | CA340480106 | PCSK9 | c.1670A>T (p.His557Leu) c.2027A>T (p.His676Leu) c.1295A>T (p.His432Leu) c.410A>T (p.His137Leu) n.2227+1005A>T n.1277A>T c.791A>T (p.His264Leu) | |
1 | g.55059653C>A | CA340480107 | PCSK9 | c.1671C>A (p.His557Gln) c.2028C>A (p.His676Gln) c.1296C>A (p.His432Gln) c.411C>A (p.His137Gln) n.2227+1006C>A n.1278C>A c.792C>A (p.His264Gln) | gnomAD v4 |
1 | g.55059653C= | CA1140805119 | PCSK9 | c.1671C= (p.His557=) c.2028C= (p.His676=) c.1296C= (p.His432=) c.411C= (p.His137=) n.2227+1006C= n.1278C= c.792C= (p.His264=) | |
1 | g.55059653C>G | CA340480108 | PCSK9 | c.1671C>G (p.His557Gln) c.2028C>G (p.His676Gln) c.1296C>G (p.His432Gln) c.411C>G (p.His137Gln) n.2227+1006C>G n.1278C>G c.792C>G (p.His264Gln) | |
1 | g.55059653C>T | CA22765661 | PCSK9 | c.1671C>T (p.His557=) c.2028C>T (p.His676=) c.1296C>T (p.His432=) c.411C>T (p.His137=) n.2227+1006C>T n.1278C>T c.792C>T (p.His264=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55059654G>A | CA340480109 | PCSK9 | c.1672G>A (p.Val558Ile) c.2029G>A (p.Val677Ile) c.1297G>A (p.Val433Ile) c.412G>A (p.Val138Ile) n.2227+1007G>A n.1279G>A c.793G>A (p.Val265Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55059654G>C | CA340480110 | PCSK9 | c.1672G>C (p.Val558Leu) c.2029G>C (p.Val677Leu) c.1297G>C (p.Val433Leu) c.412G>C (p.Val138Leu) n.2227+1007G>C n.1279G>C c.793G>C (p.Val265Leu) | gnomAD v4 |
1 | g.55059654G= | CA1167984944 | PCSK9 | c.1672G= (p.Val558=) c.2029G= (p.Val677=) c.1297G= (p.Val433=) c.412G= (p.Val138=) n.2227+1007G= n.1279G= c.793G= (p.Val265=) | |
1 | g.55059654G>T | CA340480111 | PCSK9 | c.1672G>T (p.Val558Phe) c.2029G>T (p.Val677Phe) c.1297G>T (p.Val433Phe) c.412G>T (p.Val138Phe) n.2227+1007G>T n.1279G>T c.793G>T (p.Val265Phe) | gnomAD v4 |
1 | g.55059655T>A | CA340480112 | PCSK9 | c.1673T>A (p.Val558Asp) c.2030T>A (p.Val677Asp) c.1298T>A (p.Val433Asp) c.413T>A (p.Val138Asp) n.2227+1008T>A n.1280T>A c.794T>A (p.Val265Asp) | |
1 | g.55059655T>C | CA340480113 | PCSK9 | c.1673T>C (p.Val558Ala) c.2030T>C (p.Val677Ala) c.1298T>C (p.Val433Ala) c.413T>C (p.Val138Ala) n.2227+1008T>C n.1280T>C c.794T>C (p.Val265Ala) | gnomAD v4 |
1 | g.55059655T>G | CA22765665 | PCSK9 | c.1673T>G (p.Val558Gly) c.2030T>G (p.Val677Gly) c.1298T>G (p.Val433Gly) c.413T>G (p.Val138Gly) n.2227+1008T>G n.1280T>G c.794T>G (p.Val265Gly) | dbSNP gnomAD v4 |
1 | g.55059655T= | CA1167984945 | PCSK9 | c.1673T= (p.Val558=) c.2030T= (p.Val677=) c.1298T= (p.Val433=) c.413T= (p.Val138=) n.2227+1008T= n.1280T= c.794T= (p.Val265=) | |
1 | g.55059657_55059659dup | CA2645841416 | PCSK9 | c.1675_1677dup (p.Leu559_Thr560insLeu) c.2032_2034dup (p.Leu678_Thr679insLeu) c.1300_1302dup (p.Leu434_Thr435insLeu) c.415_417dup (p.Leu139_Thr140insLeu) n.2227+1010_2227+1012dup n.1282_1284dup c.796_798dup (p.Leu266_Thr267insLeu) | ClinVar gnomAD v4 |
1 | g.55059656C>A | CA417960466 | PCSK9 | c.1674C>A (p.Val558=) c.2031C>A (p.Val677=) c.1299C>A (p.Val433=) c.414C>A (p.Val138=) n.2227+1009C>A n.1281C>A c.795C>A (p.Val265=) | gnomAD v4 |
1 | g.55059656C= | CA1167984946 | PCSK9 | c.1674C= (p.Val558=) c.2031C= (p.Val677=) c.1299C= (p.Val433=) c.414C= (p.Val138=) n.2227+1009C= n.1281C= c.795C= (p.Val265=) | |
1 | g.55059656C>G | CA417960467 | PCSK9 | c.1674C>G (p.Val558=) c.2031C>G (p.Val677=) c.1299C>G (p.Val433=) c.414C>G (p.Val138=) n.2227+1009C>G n.1281C>G c.795C>G (p.Val265=) | |
1 | g.55059656C>T | CA417960465 | PCSK9 | c.1674C>T (p.Val558=) c.2031C>T (p.Val677=) c.1299C>T (p.Val433=) c.414C>T (p.Val138=) n.2227+1009C>T n.1281C>T c.795C>T (p.Val265=) | dbSNP gnomAD v2 gnomAD v4 |