Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.55059562G>ACA340479909PCSK9c.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)
1g.55059562G>CCA340479910PCSK9c.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)
1g.55059562G>TCA340479911PCSK9c.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
1g.55059563C>ACA340479912PCSK9c.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
1g.55059563C>GCA340479913PCSK9c.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)
1g.55059563C>TCA417960405PCSK9c.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
1g.55059564C>ACA340479915PCSK9c.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)
1g.55059564C=CA1167984911PCSK9c.1582C= (p.Leu528=)
c.1939C= (p.Leu647=)
c.1207C= (p.Leu403=)
c.322C= (p.Leu108=)
n.2227+917C=
n.1189C=
c.703C= (p.Leu235=)
1g.55059564C>GCA340479914PCSK9c.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)
1g.55059564C>TCA22765577PCSK9c.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
1g.55059565T>ACA340479916PCSK9c.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)
1g.55059565T>CCA340479917PCSK9c.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
1g.55059565T>GCA340479918PCSK9c.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)
1g.55059566G>ACA417960406PCSK9c.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
1g.55059566G>CCA417960407PCSK9c.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=)
1g.55059566G=CA1167984912PCSK9c.1584G= (p.Leu528=)
c.1941G= (p.Leu647=)
c.1209G= (p.Leu403=)
c.324G= (p.Leu108=)
n.2227+919G=
n.1191G=
c.705G= (p.Leu235=)
1g.55059566G>TCA417960408PCSK9c.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
1g.55059567C>ACA340479919PCSK9c.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)
1g.55059567C>GCA340479920PCSK9c.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)
1g.55059567C>TCA417960409PCSK9c.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
1g.55059568T>ACA340479923PCSK9c.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)
1g.55059568T>CCA340479922PCSK9c.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
1g.55059568T>GCA340479921PCSK9c.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)
1g.55059569A=CA1167984913PCSK9c.1587A= (p.Leu529=)
c.1944A= (p.Leu648=)
c.1212A= (p.Leu404=)
c.327A= (p.Leu109=)
n.2227+922A=
n.1194A=
c.708A= (p.Leu236=)
1g.55059569A>CCA417960410PCSK9c.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
1g.55059569A>GCA417960411PCSK9c.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=)
1g.55059569A>TCA417960412PCSK9c.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
1g.55059570C>ACA340479924PCSK9c.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
1g.55059570C=CA1167984914PCSK9c.1588C= (p.Pro530=)
c.1945C= (p.Pro649=)
c.1213C= (p.Pro405=)
c.328C= (p.Pro110=)
n.2227+923C=
n.1195C=
c.709C= (p.Pro237=)
1g.55059570C>GCA340479925PCSK9c.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)
1g.55059570C>TCA340479926PCSK9c.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
1g.55059573delCA2645841176PCSK9c.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
1g.55059571C>ACA22765579PCSK9c.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
1g.55059571C=CA1167984915PCSK9c.1589C= (p.Pro530=)
c.1946C= (p.Pro649=)
c.1214C= (p.Pro405=)
c.329C= (p.Pro110=)
n.2227+924C=
n.1196C=
c.710C= (p.Pro237=)
1g.55059571C>GCA340479927PCSK9c.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
1g.55059571C>TCA340479928PCSK9c.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
1g.55059572C>ACA417960413PCSK9c.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
1g.55059572C>GCA417960415PCSK9c.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=)
1g.55059572C>TCA417960414PCSK9c.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
1g.55059572_55059573insTCA645535867PCSK9c.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
1g.55059573C>ACA340479929PCSK9c.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
1g.55059573C=CA1167984916PCSK9c.1591C= (p.Gln531=)
c.1948C= (p.Gln650=)
c.1216C= (p.Gln406=)
c.331C= (p.Gln111=)
n.2227+926C=
n.1198C=
c.712C= (p.Gln238=)
1g.55059573C>GCA340479931PCSK9c.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)
1g.55059573C>TCA340479930PCSK9c.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
1g.55059573_55059574insTCA417960416PCSK9c.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)
1g.55059574A>CCA340479932PCSK9c.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
1g.55059574A>GCA340479933PCSK9c.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
1g.55059574A>TCA340479934PCSK9c.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)
1g.55059575G>ACA038114PCSK9c.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
1g.55059575G>CCA340479935PCSK9c.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)
1g.55059575G=CA1167984917PCSK9c.1593G= (p.Gln531=)
c.1950G= (p.Gln650=)
c.1218G= (p.Gln406=)
c.333G= (p.Gln111=)
n.2227+928G=
n.1200G=
c.714G= (p.Gln238=)
1g.55059575G>TCA340479936PCSK9c.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
1g.55059576G>ACA340479937PCSK9c.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
1g.55059576G>CCA340479938PCSK9c.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)
1g.55059576G>TCA340479939PCSK9c.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
1g.55059577C>ACA340479940PCSK9c.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
1g.55059577C>GCA340479941PCSK9c.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)
1g.55059577C>TCA340479942PCSK9c.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
1g.55059578C>ACA417960417PCSK9c.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
1g.55059578C>GCA417960418PCSK9c.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=)
1g.55059578C>TCA417960419PCSK9c.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=)
1g.55059579A>CCA340479945PCSK9c.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)
1g.55059579A>GCA340479944PCSK9c.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)
1g.55059579A>TCA340479943PCSK9c.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)
1g.55059580A>CCA340479948PCSK9c.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)
1g.55059580A>GCA340479946PCSK9c.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)
1g.55059580A>TCA340479947PCSK9c.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)
1g.55059581C>ACA340479949PCSK9c.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
1g.55059581C>GCA340479950PCSK9c.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)
1g.55059581C>TCA417960420PCSK9c.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=)
1g.55059582T>ACA340479951PCSK9c.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)
1g.55059582T>CCA340479952PCSK9c.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)
1g.55059582T>GCA340479953PCSK9c.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)
1g.55059583G>ACA22765590PCSK9c.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
1g.55059583G>CCA340479954PCSK9c.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)
1g.55059583G=CA1167984918PCSK9c.1601G= (p.Cys534=)
c.1958G= (p.Cys653=)
c.1226G= (p.Cys409=)
c.341G= (p.Cys114=)
n.2227+936G=
n.1208G=
c.722G= (p.Cys241=)
1g.55059583G>TCA340479955PCSK9c.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
1g.55059584C>ACA340479956PCSK9c.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)
1g.55059584C>GCA340479957PCSK9c.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)
1g.55059584C>TCA417960421PCSK9c.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
1g.55059585A>CCA340479958PCSK9c.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)
1g.55059585A>GCA340479959PCSK9c.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
1g.55059585A>TCA340479960PCSK9c.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)
1g.55059586G>ACA340479961PCSK9c.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
1g.55059586G>CCA340479963PCSK9c.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)
1g.55059586G>TCA340479962PCSK9c.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
1g.55059587C>ACA340479964PCSK9c.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
1g.55059587C=CA1167984919PCSK9c.1605C= (p.Ser535=)
c.1962C= (p.Ser654=)
c.1230C= (p.Ser410=)
c.345C= (p.Ser115=)
n.2227+940C=
n.1212C=
c.726C= (p.Ser242=)
1g.55059587C>GCA340479965PCSK9c.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
1g.55059587C>TCA22765599PCSK9c.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
1g.55059588G>ACA038148PCSK9c.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
1g.55059588G>CCA340479966PCSK9c.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)
1g.55059588G=CA1167984920PCSK9c.1606G= (p.Val536=)
c.1963G= (p.Val655=)
c.1231G= (p.Val411=)
c.346G= (p.Val116=)
n.2227+941G=
n.1213G=
c.727G= (p.Val243=)
1g.55059588G>TCA340479967PCSK9c.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)
1g.55059589T>ACA340479968PCSK9c.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)
1g.55059589T>CCA340479969PCSK9c.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)
1g.55059589T>GCA340479970PCSK9c.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)
1g.55059590C>ACA417960422PCSK9c.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
1g.55059590C=CA1167984921PCSK9c.1608C= (p.Val536=)
c.1965C= (p.Val655=)
c.1233C= (p.Val411=)
c.348C= (p.Val116=)
n.2227+943C=
n.1215C=
c.729C= (p.Val243=)
1g.55059590C>GCA417960423PCSK9c.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=)
1g.55059590C>TCA417960424PCSK9c.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
1g.55059591C>ACA340479971PCSK9c.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
1g.55059591C>GCA340479972PCSK9c.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)
1g.55059591C>TCA340479973PCSK9c.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)
1g.55059592A>CCA340479974PCSK9c.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)
1g.55059592A>GCA340479976PCSK9c.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)
1g.55059592A>TCA340479975PCSK9c.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)
1g.55059593C>ACA340479977PCSK9c.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)
1g.55059593C=CA1167984922PCSK9c.1611C= (p.His537=)
c.1968C= (p.His656=)
c.1236C= (p.His412=)
c.351C= (p.His117=)
n.2227+946C=
n.1218C=
c.732C= (p.His244=)
1g.55059593C>GCA340479978PCSK9c.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)
1g.55059593C>TCA417960425PCSK9c.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
1g.55059594A=CA1167984923PCSK9c.1612A= (p.Thr538=)
c.1969A= (p.Thr657=)
c.1237A= (p.Thr413=)
c.352A= (p.Thr118=)
n.2227+947A=
n.1219A=
c.733A= (p.Thr245=)
1g.55059594A>CCA340479979PCSK9c.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)
1g.55059594A>GCA340479980PCSK9c.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
1g.55059594A>TCA340479981PCSK9c.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)
1g.55059595C>ACA340479982PCSK9c.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)
1g.55059595C>GCA340479983PCSK9c.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
1g.55059595C>TCA340479984PCSK9c.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)
1g.55059596A>CCA417960427PCSK9c.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=)
1g.55059596A>GCA417960428PCSK9c.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=)
1g.55059596A>TCA417960426PCSK9c.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=)
1g.55059597G>ACA340479985PCSK9c.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)
1g.55059597G>CCA340479986PCSK9c.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)
1g.55059597G>TCA340479987PCSK9c.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
1g.55059598C>ACA340479990PCSK9c.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
1g.55059598C>GCA340479989PCSK9c.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)
1g.55059598C>TCA340479988PCSK9c.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)
1g.55059599T>ACA417960431PCSK9c.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
1g.55059599T>CCA417960429PCSK9c.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=)
1g.55059599T>GCA417960430PCSK9c.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=)
1g.55059599T=CA1167984924PCSK9c.1617T= (p.Ala539=)
c.1974T= (p.Ala658=)
c.1242T= (p.Ala414=)
c.357T= (p.Ala119=)
n.2227+952T=
n.1224T=
c.738T= (p.Ala246=)
1g.55059600C>ACA340479991PCSK9c.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
1g.55059600C>GCA340479992PCSK9c.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)
1g.55059600C>TCA340479993PCSK9c.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
1g.55059601C>ACA340479994PCSK9c.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)
1g.55059601C>GCA340479995PCSK9c.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)
1g.55059601C>TCA340479996PCSK9c.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)
1g.55059602A=CA1140023836PCSK9c.1620A= (p.Pro540=)
c.1977A= (p.Pro659=)
c.1245A= (p.Pro415=)
c.360A= (p.Pro120=)
n.2227+955A=
n.1227A=
c.741A= (p.Pro247=)
1g.55059602A>CCA22765602PCSK9c.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
1g.55059602A>GCA417960433PCSK9c.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
1g.55059602A>TCA417960432PCSK9c.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=)
1g.55059603C>ACA340479997PCSK9c.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
1g.55059603C=CA1143699928PCSK9c.1621C= (p.Pro541=)
c.1978C= (p.Pro660=)
c.1246C= (p.Pro416=)
c.361C= (p.Pro121=)
n.2227+956C=
n.1228C=
c.742C= (p.Pro248=)
1g.55059603C>GCA340479998PCSK9c.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)
1g.55059603C>TCA038172PCSK9c.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
1g.55059604C>ACA340479999PCSK9c.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
1g.55059604C>GCA340480000PCSK9c.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)
1g.55059604C>TCA340480001PCSK9c.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)
1g.55059605A=CA1167984925PCSK9c.1623A= (p.Pro541=)
c.1980A= (p.Pro660=)
c.1248A= (p.Pro416=)
c.363A= (p.Pro121=)
n.2227+958A=
n.1230A=
c.744A= (p.Pro248=)
1g.55059605A>CCA417960436PCSK9c.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
1g.55059605A>GCA417960434PCSK9c.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
1g.55059605A>TCA417960435PCSK9c.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=)
1g.55059606G>ACA340480004PCSK9c.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
1g.55059606G>CCA340480003PCSK9c.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)
1g.55059606G>TCA340480002PCSK9c.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)
1g.55059607C>ACA340480005PCSK9c.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
1g.55059607C>GCA340480007PCSK9c.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
1g.55059607C>TCA340480006PCSK9c.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
1g.55059608T>ACA417960437PCSK9c.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=)
1g.55059608T>CCA417960439PCSK9c.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
1g.55059608T>GCA417960438PCSK9c.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
1g.55059609G>ACA340480008PCSK9c.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)
1g.55059609G>CCA340480010PCSK9c.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)
1g.55059609G>TCA340480009PCSK9c.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
1g.55059610A>CCA340480011PCSK9c.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)
1g.55059610A>GCA340480012PCSK9c.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)
1g.55059610A>TCA340480013PCSK9c.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)
1g.55059611G>ACA417960440PCSK9c.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=)
1g.55059611G>CCA340480014PCSK9c.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)
1g.55059611G>TCA340480015PCSK9c.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
1g.55059612G>ACA22765607PCSK9c.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
1g.55059612G>CCA340480016PCSK9c.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)
1g.55059612G=CA1167984926PCSK9c.1630G= (p.Ala544=)
c.1987G= (p.Ala663=)
c.1255G= (p.Ala419=)
c.370G= (p.Ala124=)
n.2227+965G=
n.1237G=
c.751G= (p.Ala251=)
1g.55059612G>TCA340480017PCSK9c.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
1g.55059613C>ACA340480018PCSK9c.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
1g.55059613C=CA1167984927PCSK9c.1631C= (p.Ala544=)
c.1988C= (p.Ala663=)
c.1256C= (p.Ala419=)
c.371C= (p.Ala124=)
n.2227+966C=
n.1238C=
c.752C= (p.Ala251=)
1g.55059613C>GCA340480019PCSK9c.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)
1g.55059613C>TCA340480020PCSK9c.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
1g.55059614C>ACA417960441PCSK9c.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
1g.55059614C>GCA417960442PCSK9c.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=)
1g.55059614C>TCA417960443PCSK9c.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
1g.55059615A=CA1167984928PCSK9c.1633A= (p.Ser545=)
c.1990A= (p.Ser664=)
c.1258A= (p.Ser420=)
c.373A= (p.Ser125=)
n.2227+968A=
n.1240A=
c.754A= (p.Ser252=)
1g.55059615A>CCA340480023PCSK9c.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
1g.55059615A>GCA340480022PCSK9c.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
1g.55059615A>TCA340480021PCSK9c.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)
1g.55059616G>ACA340480024PCSK9c.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
1g.55059616G>CCA340480025PCSK9c.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)
1g.55059616G>TCA340480026PCSK9c.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
1g.55059617C>ACA340480027PCSK9c.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
1g.55059617C>GCA340480028PCSK9c.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)
1g.55059617C>TCA417960444PCSK9c.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=)
1g.55059618A=CA1167984929PCSK9c.1636A= (p.Met546=)
c.1993A= (p.Met665=)
c.1261A= (p.Met421=)
c.376A= (p.Met126=)
n.2227+971A=
n.1243A=
c.757A= (p.Met253=)
1g.55059618A>CCA340480029PCSK9c.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)
1g.55059618A>GCA340480030PCSK9c.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
1g.55059618A>TCA340480031PCSK9c.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
1g.55059619delCA2743686126PCSK9c.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?)
1g.55059619T>ACA340480032PCSK9c.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)
1g.55059619T>CCA340480033PCSK9c.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)
1g.55059619T>GCA340480034PCSK9c.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
1g.55059620G>ACA340480037PCSK9c.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
1g.55059620G>CCA340480036PCSK9c.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)
1g.55059620G=CA1167984930PCSK9c.1638G= (p.Met546=)
c.1995G= (p.Met665=)
c.1263G= (p.Met421=)
c.378G= (p.Met126=)
n.2227+973G=
n.1245G=
c.759G= (p.Met253=)
1g.55059620G>TCA340480035PCSK9c.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
1g.55059621G>ACA340480038PCSK9c.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
1g.55059621G>CCA340480039PCSK9c.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)
1g.55059621G=CA1167984931PCSK9c.1639G= (p.Gly547=)
c.1996G= (p.Gly666=)
c.1264G= (p.Gly422=)
c.379G= (p.Gly127=)
n.2227+974G=
n.1246G=
c.760G= (p.Gly254=)
1g.55059621G>TCA340480040PCSK9c.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
1g.55059622G>ACA038188PCSK9c.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
1g.55059622G>CCA340480041PCSK9c.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)
1g.55059622G=CA1167984932PCSK9c.1640G= (p.Gly547=)
c.1997G= (p.Gly666=)
c.1265G= (p.Gly422=)
c.380G= (p.Gly127=)
n.2227+975G=
n.1247G=
c.761G= (p.Gly254=)
1g.55059622G>TCA340480042PCSK9c.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
1g.55059623G>ACA417960445PCSK9c.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
1g.55059623G>CCA417960446PCSK9c.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=)
1g.55059623G>TCA417960447PCSK9c.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
1g.55059624A=CA1167984933PCSK9c.1642A= (p.Thr548=)
c.1999A= (p.Thr667=)
c.1267A= (p.Thr423=)
c.382A= (p.Thr128=)
n.2227+977A=
n.1249A=
c.763A= (p.Thr255=)
1g.55059624A>CCA340480043PCSK9c.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
1g.55059624A>GCA340480044PCSK9c.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)
1g.55059624A>TCA340480045PCSK9c.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
1g.55059625C>ACA038205PCSK9c.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
1g.55059625C=CA1143578440PCSK9c.1643C= (p.Thr548=)
c.2000C= (p.Thr667=)
c.1268C= (p.Thr423=)
c.383C= (p.Thr128=)
n.2227+978C=
n.1250C=
c.764C= (p.Thr255=)
1g.55059625C>GCA340480046PCSK9c.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)
1g.55059625C>TCA340480047PCSK9c.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)
1g.55059626C>ACA417960448PCSK9c.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=)
1g.55059626C>GCA417960449PCSK9c.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=)
1g.55059626C>TCA417960450PCSK9c.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
1g.55059627C>ACA340480049PCSK9c.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
1g.55059627C=CA1167984934PCSK9c.1645C= (p.Arg549=)
c.2002C= (p.Arg668=)
c.1270C= (p.Arg424=)
c.385C= (p.Arg129=)
n.2227+980C=
n.1252C=
c.766C= (p.Arg256=)
1g.55059627C>GCA340480048PCSK9c.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)
1g.55059627C>TCA038220PCSK9c.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
1g.55059628G>ACA038232PCSK9c.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
1g.55059628G>CCA340480050PCSK9c.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
1g.55059628G=CA1141200630PCSK9c.1646G= (p.Arg549=)
c.2003G= (p.Arg668=)
c.1271G= (p.Arg424=)
c.386G= (p.Arg129=)
n.2227+981G=
n.1253G=
c.767G= (p.Arg256=)
1g.55059628G>TCA340480051PCSK9c.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
1g.55059629T>ACA417960451PCSK9c.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=)
1g.55059629T>CCA417960452PCSK9c.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=)
1g.55059629T>GCA417960453PCSK9c.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=)
1g.55059630G>ACA340480052PCSK9c.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
1g.55059630G>CCA340480053PCSK9c.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)
1g.55059630G=CA1167984935PCSK9c.1648G= (p.Val550=)
c.2005G= (p.Val669=)
c.1273G= (p.Val425=)
c.388G= (p.Val130=)
n.2227+983G=
n.1255G=
c.769G= (p.Val257=)
1g.55059630G>TCA340480054PCSK9c.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)
1g.55059631T>ACA340480055PCSK9c.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)
1g.55059631T>CCA340480056PCSK9c.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)
1g.55059631T>GCA340480057PCSK9c.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)
1g.55059632C>ACA417960454PCSK9c.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
1g.55059632C>GCA417960455PCSK9c.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=)
1g.55059632C>TCA417960456PCSK9c.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=)
1g.55059633C>ACA340480058PCSK9c.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
1g.55059633C>GCA340480059PCSK9c.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)
1g.55059633C>TCA340480060PCSK9c.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
1g.55059634A=CA1167984936PCSK9c.1652A= (p.His551=)
c.2009A= (p.His670=)
c.1277A= (p.His426=)
c.392A= (p.His131=)
n.2227+987A=
n.1259A=
c.773A= (p.His258=)
1g.55059634A>CCA340480063PCSK9c.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)
1g.55059634A>GCA340480062PCSK9c.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)
1g.55059634A>TCA340480061PCSK9c.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
1g.55059635C>ACA340480065PCSK9c.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
1g.55059635C>GCA340480064PCSK9c.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
1g.55059635C>TCA417960457PCSK9c.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
1g.55059636T>ACA340480068PCSK9c.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
1g.55059636T>CCA340480066PCSK9c.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)
1g.55059636T>GCA340480067PCSK9c.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
1g.55059637G>ACA340480069PCSK9c.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
1g.55059637G>CCA340480070PCSK9c.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)
1g.55059637G=CA1167984937PCSK9c.1655G= (p.Cys552=)
c.2012G= (p.Cys671=)
c.1280G= (p.Cys427=)
c.395G= (p.Cys132=)
n.2227+990G=
n.1262G=
c.776G= (p.Cys259=)
1g.55059637G>TCA340480071PCSK9c.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
1g.55059638C>ACA340480072PCSK9c.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
1g.55059638C=CA1167984938PCSK9c.1656C= (p.Cys552=)
c.2013C= (p.Cys671=)
c.1281C= (p.Cys427=)
c.396C= (p.Cys132=)
n.2227+991C=
n.1263C=
c.777C= (p.Cys259=)
1g.55059638C>GCA340480073PCSK9c.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)
1g.55059638C>TCA417960458PCSK9c.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
1g.55059639C>ACA340480074PCSK9c.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
1g.55059639C=CA1167984939PCSK9c.1657C= (p.His553=)
c.2014C= (p.His672=)
c.1282C= (p.His428=)
c.397C= (p.His133=)
n.2227+992C=
n.1264C=
c.778C= (p.His260=)
1g.55059639C>GCA340480075PCSK9c.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
1g.55059639C>TCA340480076PCSK9c.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
1g.55059640A=CA1140475695PCSK9c.1658A= (p.His553=)
c.2015A= (p.His672=)
c.1283A= (p.His428=)
c.398A= (p.His133=)
n.2227+993A=
n.1265A=
c.779A= (p.His260=)
1g.55059640A>CCA340480077PCSK9c.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
1g.55059640A>GCA038250PCSK9c.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
1g.55059640A>TCA340480078PCSK9c.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)
1g.55059641C>ACA340480079PCSK9c.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
1g.55059641C>GCA340480080PCSK9c.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
1g.55059641C>TCA417960459PCSK9c.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
1g.55059642C>ACA22765647PCSK9c.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
1g.55059642C=CA1142294558PCSK9c.1660C= (p.Gln554=)
c.2017C= (p.Gln673=)
c.1285C= (p.Gln429=)
c.400C= (p.Gln134=)
n.2227+995C=
n.1267C=
c.781C= (p.Gln261=)
1g.55059642C>GCA038270PCSK9c.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
1g.55059642C>TCA340480081PCSK9c.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
1g.55059643A>CCA340480082PCSK9c.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)
1g.55059643A>GCA340480083PCSK9c.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
1g.55059643A>TCA340480084PCSK9c.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)
1g.55059644A>CCA340480085PCSK9c.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)
1g.55059644A>GCA417960460PCSK9c.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=)
1g.55059644A>TCA340480086PCSK9c.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)
1g.55059645C>ACA340480087PCSK9c.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)
1g.55059645C>GCA340480088PCSK9c.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
1g.55059645C>TCA340480089PCSK9c.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
1g.55059646A>CCA340480091PCSK9c.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)
1g.55059646A>GCA340480092PCSK9c.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
1g.55059646A>TCA340480090PCSK9c.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)
1g.55059646_55059648delCA2695888607PCSK9c.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
1g.55059647G>ACA417960461PCSK9c.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
1g.55059647G>CCA340480093PCSK9c.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
1g.55059647G=CA1167984940PCSK9c.1665G= (p.Gln555=)
c.2022G= (p.Gln674=)
c.1290G= (p.Gln430=)
c.405G= (p.Gln135=)
n.2227+1000G=
n.1272G=
c.786G= (p.Gln262=)
1g.55059647G>TCA340480094PCSK9c.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
1g.55059648G>ACA340480095PCSK9c.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
1g.55059648G>CCA340480096PCSK9c.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)
1g.55059648G=CA1167984941PCSK9c.1666G= (p.Gly556=)
c.2023G= (p.Gly675=)
c.1291G= (p.Gly431=)
c.406G= (p.Gly136=)
n.2227+1001G=
n.1273G=
c.787G= (p.Gly263=)
1g.55059648G>TCA340480097PCSK9c.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
1g.55059649G>ACA340480100PCSK9c.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
1g.55059649G>CCA340480099PCSK9c.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)
1g.55059649G>TCA340480098PCSK9c.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
1g.55059650C>ACA417960462PCSK9c.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
1g.55059650C=CA1167984942PCSK9c.1668C= (p.Gly556=)
c.2025C= (p.Gly675=)
c.1293C= (p.Gly431=)
c.408C= (p.Gly136=)
n.2227+1003C=
n.1275C=
c.789C= (p.Gly263=)
1g.55059650C>GCA417960463PCSK9c.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=)
1g.55059650C>TCA417960464PCSK9c.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
1g.55059651C>ACA340480101PCSK9c.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)
1g.55059651C=CA1167984943PCSK9c.1669C= (p.His557=)
c.2026C= (p.His676=)
c.1294C= (p.His432=)
c.409C= (p.His137=)
n.2227+1004C=
n.1276C=
c.790C= (p.His264=)
1g.55059651C>GCA340480102PCSK9c.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)
1g.55059651C>TCA340480103PCSK9c.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
1g.55059652A>CCA340480104PCSK9c.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)
1g.55059652A>GCA340480105PCSK9c.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
1g.55059652A>TCA340480106PCSK9c.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)
1g.55059653C>ACA340480107PCSK9c.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
1g.55059653C=CA1140805119PCSK9c.1671C= (p.His557=)
c.2028C= (p.His676=)
c.1296C= (p.His432=)
c.411C= (p.His137=)
n.2227+1006C=
n.1278C=
c.792C= (p.His264=)
1g.55059653C>GCA340480108PCSK9c.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)
1g.55059653C>TCA22765661PCSK9c.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
1g.55059654G>ACA340480109PCSK9c.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
1g.55059654G>CCA340480110PCSK9c.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
1g.55059654G=CA1167984944PCSK9c.1672G= (p.Val558=)
c.2029G= (p.Val677=)
c.1297G= (p.Val433=)
c.412G= (p.Val138=)
n.2227+1007G=
n.1279G=
c.793G= (p.Val265=)
1g.55059654G>TCA340480111PCSK9c.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
1g.55059655T>ACA340480112PCSK9c.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)
1g.55059655T>CCA340480113PCSK9c.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
1g.55059655T>GCA22765665PCSK9c.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
1g.55059655T=CA1167984945PCSK9c.1673T= (p.Val558=)
c.2030T= (p.Val677=)
c.1298T= (p.Val433=)
c.413T= (p.Val138=)
n.2227+1008T=
n.1280T=
c.794T= (p.Val265=)
1g.55059657_55059659dupCA2645841416PCSK9c.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
1g.55059656C>ACA417960466PCSK9c.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
1g.55059656C=CA1167984946PCSK9c.1674C= (p.Val558=)
c.2031C= (p.Val677=)
c.1299C= (p.Val433=)
c.414C= (p.Val138=)
n.2227+1009C=
n.1281C=
c.795C= (p.Val265=)
1g.55059656C>GCA417960467PCSK9c.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=)
1g.55059656C>TCA417960465PCSK9c.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
1g.55059657C>ACA340480114PCSK9c.1675C>A (p.Leu559Ile)
c.2032C>A (p.Leu678Ile)
c.1300C>A (p.Leu434Ile)
c.415C>A (p.Leu139Ile)
n.2227+1010C>A
n.1282C>A
c.796C>A (p.Leu266Ile)
1g.55059657C>GCA340480115PCSK9c.1675C>G (p.Leu559Val)
c.2032C>G (p.Leu678Val)
c.1300C>G (p.Leu434Val)
c.415C>G (p.Leu139Val)
n.2227+1010C>G
n.1282C>G
c.796C>G (p.Leu266Val)
1g.55059657C>TCA340480116PCSK9c.1675C>T (p.Leu559Phe)
c.2032C>T (p.Leu678Phe)
c.1300C>T (p.Leu434Phe)
c.415C>T (p.Leu139Phe)
n.2227+1010C>T
n.1282C>T
c.796C>T (p.Leu266Phe)
1g.55059658T>ACA340480117PCSK9c.1676T>A (p.Leu559His)
c.2033T>A (p.Leu678His)
c.1301T>A (p.Leu434His)
c.416T>A (p.Leu139His)
n.2227+1011T>A
n.1283T>A
c.797T>A (p.Leu266His)
1g.55059658T>CCA340480118PCSK9c.1676T>C (p.Leu559Pro)
c.2033T>C (p.Leu678Pro)
c.1301T>C (p.Leu434Pro)
c.416T>C (p.Leu139Pro)
n.2227+1011T>C
n.1283T>C
c.797T>C (p.Leu266Pro)
1g.55059658T>GCA340480119PCSK9c.1676T>G (p.Leu559Arg)
c.2033T>G (p.Leu678Arg)
c.1301T>G (p.Leu434Arg)
c.416T>G (p.Leu139Arg)
n.2227+1011T>G
n.1283T>G
c.797T>G (p.Leu266Arg)
1g.55059659C>ACA417960468PCSK9c.1677C>A (p.Leu559=)
c.2034C>A (p.Leu678=)
c.1302C>A (p.Leu434=)
c.417C>A (p.Leu139=)
n.2227+1012C>A
n.1284C>A
c.798C>A (p.Leu266=)
 gnomAD v4
1g.55059659C>GCA417960469PCSK9c.1677C>G (p.Leu559=)
c.2034C>G (p.Leu678=)
c.1302C>G (p.Leu434=)
c.417C>G (p.Leu139=)
n.2227+1012C>G
n.1284C>G
c.798C>G (p.Leu266=)
1g.55059659C>TCA417960470PCSK9c.1677C>T (p.Leu559=)
c.2034C>T (p.Leu678=)
c.1302C>T (p.Leu434=)
c.417C>T (p.Leu139=)
n.2227+1012C>T
n.1284C>T
c.798C>T (p.Leu266=)
1g.55059660A>CCA340480122PCSK9c.1678A>C (p.Thr560Pro)
c.2035A>C (p.Thr679Pro)
c.1303A>C (p.Thr435Pro)
c.418A>C (p.Thr140Pro)
n.2227+1013A>C
n.1285A>C
c.799A>C (p.Thr267Pro)
1g.55059660A>GCA340480121PCSK9c.1678A>G (p.Thr560Ala)
c.2035A>G (p.Thr679Ala)
c.1303A>G (p.Thr435Ala)
c.418A>G (p.Thr140Ala)
n.2227+1013A>G
n.1285A>G
c.799A>G (p.Thr267Ala)
 gnomAD v4
1g.55059660A>TCA340480120PCSK9c.1678A>T (p.Thr560Ser)
c.2035A>T (p.Thr679Ser)
c.1303A>T (p.Thr435Ser)
c.418A>T (p.Thr140Ser)
n.2227+1013A>T
n.1285A>T
c.799A>T (p.Thr267Ser)
1g.55059661C>ACA340480123PCSK9c.1679C>A (p.Thr560Lys)
c.2036C>A (p.Thr679Lys)
c.1304C>A (p.Thr435Lys)
c.419C>A (p.Thr140Lys)
n.2227+1014C>A
n.1286C>A
c.800C>A (p.Thr267Lys)
 gnomAD v4
1g.55059661C=CA1167984947PCSK9c.1679C= (p.Thr560=)
c.2036C= (p.Thr679=)
c.1304C= (p.Thr435=)
c.419C= (p.Thr140=)
n.2227+1014C=
n.1286C=
c.800C= (p.Thr267=)
1g.55059661C>GCA340480124PCSK9c.1679C>G (p.Thr560Arg)
c.2036C>G (p.Thr679Arg)
c.1304C>G (p.Thr435Arg)
c.419C>G (p.Thr140Arg)
n.2227+1014C>G
n.1286C>G
c.800C>G (p.Thr267Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.55059661C>TCA038295PCSK9c.1679C>T (p.Thr560Ile)
c.2036C>T (p.Thr679Ile)
c.1304C>T (p.Thr435Ile)
c.419C>T (p.Thr140Ile)
n.2227+1014C>T
n.1286C>T
c.800C>T (p.Thr267Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55059662A>CCA417960471PCSK9c.1680A>C (p.Thr560=)
c.2037A>C (p.Thr679=)
c.1305A>C (p.Thr435=)
c.420A>C (p.Thr140=)
n.2227+1015A>C
n.1287A>C
c.801A>C (p.Thr267=)
 gnomAD v4
1g.55059662A>GCA417960472PCSK9c.1680A>G (p.Thr560=)
c.2037A>G (p.Thr679=)
c.1305A>G (p.Thr435=)
c.420A>G (p.Thr140=)
n.2227+1015A>G
n.1287A>G
c.801A>G (p.Thr267=)
 gnomAD v4
1g.55059662A>TCA417960473PCSK9c.1680A>T (p.Thr560=)
c.2037A>T (p.Thr679=)
c.1305A>T (p.Thr435=)
c.420A>T (p.Thr140=)
n.2227+1015A>T
n.1287A>T
c.801A>T (p.Thr267=)
 gnomAD v4

Number of alleles fetched