Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.55059520delCA2499214813PCSK9c.1538del (p.Asn513ThrfsTer?)
c.1895del (p.Asn632ThrfsTer?)
c.1163del (p.Asn388ThrfsTer?)
c.278del (p.Asn93ThrfsTer?)
n.2227+873del
n.1145del
c.659del (p.Asn220ThrfsTer?)
 ClinVar dbSNP
1g.55059520A=CA1167984893PCSK9c.1538A= (p.Asn513=)
c.1895A= (p.Asn632=)
c.1163A= (p.Asn388=)
c.278A= (p.Asn93=)
n.2227+873A=
n.1145A=
c.659A= (p.Asn220=)
1g.55059520A>CCA340479726PCSK9c.1538A>C (p.Asn513Thr)
c.1895A>C (p.Asn632Thr)
c.1163A>C (p.Asn388Thr)
c.278A>C (p.Asn93Thr)
n.2227+873A>C
n.1145A>C
c.659A>C (p.Asn220Thr)
1g.55059520A>GCA340479728PCSK9c.1538A>G (p.Asn513Ser)
c.1895A>G (p.Asn632Ser)
c.1163A>G (p.Asn388Ser)
c.278A>G (p.Asn93Ser)
n.2227+873A>G
n.1145A>G
c.659A>G (p.Asn220Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.55059520A>TCA340479730PCSK9c.1538A>T (p.Asn513Ile)
c.1895A>T (p.Asn632Ile)
c.1163A>T (p.Asn388Ile)
c.278A>T (p.Asn93Ile)
n.2227+873A>T
n.1145A>T
c.659A>T (p.Asn220Ile)
 gnomAD v4
1g.55059521C>ACA340479732PCSK9c.1539C>A (p.Asn513Lys)
c.1896C>A (p.Asn632Lys)
c.1164C>A (p.Asn388Lys)
c.279C>A (p.Asn93Lys)
n.2227+874C>A
n.1146C>A
c.660C>A (p.Asn220Lys)
 gnomAD v4
1g.55059521C=CA1167984894PCSK9c.1539C= (p.Asn513=)
c.1896C= (p.Asn632=)
c.1164C= (p.Asn388=)
c.279C= (p.Asn93=)
n.2227+874C=
n.1146C=
c.660C= (p.Asn220=)
1g.55059521C>GCA340479734PCSK9c.1539C>G (p.Asn513Lys)
c.1896C>G (p.Asn632Lys)
c.1164C>G (p.Asn388Lys)
c.279C>G (p.Asn93Lys)
n.2227+874C>G
n.1146C>G
c.660C>G (p.Asn220Lys)
1g.55059521C>TCA037929PCSK9c.1539C>T (p.Asn513=)
c.1896C>T (p.Asn632=)
c.1164C>T (p.Asn388=)
c.279C>T (p.Asn93=)
n.2227+874C>T
n.1146C>T
c.660C>T (p.Asn220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55059522G>ACA340479739PCSK9c.1540G>A (p.Ala514Thr)
c.1897G>A (p.Ala633Thr)
c.1165G>A (p.Ala389Thr)
c.280G>A (p.Ala94Thr)
n.2227+875G>A
n.1147G>A
c.661G>A (p.Ala221Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55059522G>CCA340479741PCSK9c.1540G>C (p.Ala514Pro)
c.1897G>C (p.Ala633Pro)
c.1165G>C (p.Ala389Pro)
c.280G>C (p.Ala94Pro)
n.2227+875G>C
n.1147G>C
c.661G>C (p.Ala221Pro)
1g.55059522G=CA1167984895PCSK9c.1540G= (p.Ala514=)
c.1897G= (p.Ala633=)
c.1165G= (p.Ala389=)
c.280G= (p.Ala94=)
n.2227+875G=
n.1147G=
c.661G= (p.Ala221=)
1g.55059522G>TCA340479743PCSK9c.1540G>T (p.Ala514Ser)
c.1897G>T (p.Ala633Ser)
c.1165G>T (p.Ala389Ser)
c.280G>T (p.Ala94Ser)
n.2227+875G>T
n.1147G>T
c.661G>T (p.Ala221Ser)
 gnomAD v4 COSMIC
1g.55059523C>ACA340479753PCSK9c.1541C>A (p.Ala514Asp)
c.1898C>A (p.Ala633Asp)
c.1166C>A (p.Ala389Asp)
c.281C>A (p.Ala94Asp)
n.2227+876C>A
n.1148C>A
c.662C>A (p.Ala221Asp)
 gnomAD v4
1g.55059523C>GCA340479749PCSK9c.1541C>G (p.Ala514Gly)
c.1898C>G (p.Ala633Gly)
c.1166C>G (p.Ala389Gly)
c.281C>G (p.Ala94Gly)
n.2227+876C>G
n.1148C>G
c.662C>G (p.Ala221Gly)
1g.55059523C>TCA340479746PCSK9c.1541C>T (p.Ala514Val)
c.1898C>T (p.Ala633Val)
c.1166C>T (p.Ala389Val)
c.281C>T (p.Ala94Val)
n.2227+876C>T
n.1148C>T
c.662C>T (p.Ala221Val)
1g.55059523_55059525delinsCTTCA1167984896PCSK9c.1541_1543delinsCTT (p.Ala514=)
c.1898_1900delinsCTT (p.Ala633=)
c.1166_1168delinsCTT (p.Ala389=)
c.281_283delinsCTT (p.Ala94=)
n.2227+876_2227+878delinsCTT
n.1148_1150delinsCTT
c.662_664delinsCTT (p.Ala221=)
1g.55059524T>ACA417960379PCSK9c.1542T>A (p.Ala514=)
c.1899T>A (p.Ala633=)
c.1167T>A (p.Ala389=)
c.282T>A (p.Ala94=)
n.2227+877T>A
n.1149T>A
c.663T>A (p.Ala221=)
 gnomAD v4
1g.55059524T>CCA417960380PCSK9c.1542T>C (p.Ala514=)
c.1899T>C (p.Ala633=)
c.1167T>C (p.Ala389=)
c.282T>C (p.Ala94=)
n.2227+877T>C
n.1149T>C
c.663T>C (p.Ala221=)
 gnomAD v4
1g.55059524T>GCA417960381PCSK9c.1542T>G (p.Ala514=)
c.1899T>G (p.Ala633=)
c.1167T>G (p.Ala389=)
c.282T>G (p.Ala94=)
n.2227+877T>G
n.1149T>G
c.663T>G (p.Ala221=)
1g.55059524_55059527delinsTTTTCA1140607412PCSK9c.1542_1545delinsTTTT (p.Ala514=)
c.1899_1902delinsTTTT (p.Ala633=)
c.1167_1170delinsTTTT (p.Ala389=)
c.282_285delinsTTTT (p.Ala94=)
n.2227+877_2227+880delinsTTTT
n.1149_1152delinsTTTT
c.663_666delinsTTTT (p.Ala221=)
1g.55059527dupCA2645841009PCSK9c.1545dup (p.Gly516TrpfsTer3)
c.1902dup (p.Gly635TrpfsTer3)
c.1170dup (p.Gly391TrpfsTer3)
c.285dup (p.Gly96TrpfsTer3)
n.2227+880dup
n.1152dup
c.666dup (p.Gly223TrpfsTer3)
 gnomAD v4
1g.55059527delCA22765520PCSK9c.1545del (p.Phe515LeufsTer?)
c.1902del (p.Phe634LeufsTer?)
c.1170del (p.Phe390LeufsTer?)
c.285del (p.Phe95LeufsTer?)
n.2227+880del
n.1152del
c.666del (p.Phe222LeufsTer?)
 dbSNP gnomAD v4
1g.55059526_55059527delCA037938PCSK9c.1544_1545del (p.Phe515TrpfsTer3)
c.1901_1902del (p.Phe634TrpfsTer3)
c.1169_1170del (p.Phe390TrpfsTer3)
c.284_285del (p.Phe95TrpfsTer3)
n.2227+879_2227+880del
n.1151_1152del
c.665_666del (p.Phe222TrpfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.55059525T>ACA340479757PCSK9c.1543T>A (p.Phe515Ile)
c.1900T>A (p.Phe634Ile)
c.1168T>A (p.Phe390Ile)
c.283T>A (p.Phe95Ile)
n.2227+878T>A
n.1150T>A
c.664T>A (p.Phe222Ile)
1g.55059525T>CCA340479761PCSK9c.1543T>C (p.Phe515Leu)
c.1900T>C (p.Phe634Leu)
c.1168T>C (p.Phe390Leu)
c.283T>C (p.Phe95Leu)
n.2227+878T>C
n.1150T>C
c.664T>C (p.Phe222Leu)
 gnomAD v4
1g.55059525T>GCA340479759PCSK9c.1543T>G (p.Phe515Val)
c.1900T>G (p.Phe634Val)
c.1168T>G (p.Phe390Val)
c.283T>G (p.Phe95Val)
n.2227+878T>G
n.1150T>G
c.664T>G (p.Phe222Val)
1g.55059526T>ACA340479763PCSK9c.1544T>A (p.Phe515Tyr)
c.1901T>A (p.Phe634Tyr)
c.1169T>A (p.Phe390Tyr)
c.284T>A (p.Phe95Tyr)
n.2227+879T>A
n.1151T>A
c.665T>A (p.Phe222Tyr)
 gnomAD v4
1g.55059526T>CCA340479765PCSK9c.1544T>C (p.Phe515Ser)
c.1901T>C (p.Phe634Ser)
c.1169T>C (p.Phe390Ser)
c.284T>C (p.Phe95Ser)
n.2227+879T>C
n.1151T>C
c.665T>C (p.Phe222Ser)
1g.55059526T>GCA340479766PCSK9c.1544T>G (p.Phe515Cys)
c.1901T>G (p.Phe634Cys)
c.1169T>G (p.Phe390Cys)
c.284T>G (p.Phe95Cys)
n.2227+879T>G
n.1151T>G
c.665T>G (p.Phe222Cys)
1g.55059527T>ACA340479768PCSK9c.1545T>A (p.Phe515Leu)
c.1902T>A (p.Phe634Leu)
c.1170T>A (p.Phe390Leu)
c.285T>A (p.Phe95Leu)
n.2227+880T>A
n.1152T>A
c.666T>A (p.Phe222Leu)
1g.55059527T>CCA417960382PCSK9c.1545T>C (p.Phe515=)
c.1902T>C (p.Phe634=)
c.1170T>C (p.Phe390=)
c.285T>C (p.Phe95=)
n.2227+880T>C
n.1152T>C
c.666T>C (p.Phe222=)
 dbSNP gnomAD v2 gnomAD v4
1g.55059527T>GCA340479770PCSK9c.1545T>G (p.Phe515Leu)
c.1902T>G (p.Phe634Leu)
c.1170T>G (p.Phe390Leu)
c.285T>G (p.Phe95Leu)
n.2227+880T>G
n.1152T>G
c.666T>G (p.Phe222Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55059527T=CA1167984897PCSK9c.1545T= (p.Phe515=)
c.1902T= (p.Phe634=)
c.1170T= (p.Phe390=)
c.285T= (p.Phe95=)
n.2227+880T=
n.1152T=
c.666T= (p.Phe222=)
1g.55059528G>ACA340479772PCSK9c.1546G>A (p.Gly516Arg)
c.1903G>A (p.Gly635Arg)
c.1171G>A (p.Gly391Arg)
c.286G>A (p.Gly96Arg)
n.2227+881G>A
n.1153G>A
c.667G>A (p.Gly223Arg)
 gnomAD v4
1g.55059528G>CCA340479774PCSK9c.1546G>C (p.Gly516Arg)
c.1903G>C (p.Gly635Arg)
c.1171G>C (p.Gly391Arg)
c.286G>C (p.Gly96Arg)
n.2227+881G>C
n.1153G>C
c.667G>C (p.Gly223Arg)
 gnomAD v4
1g.55059528G>TCA340479775PCSK9c.1546G>T (p.Gly516Trp)
c.1903G>T (p.Gly635Trp)
c.1171G>T (p.Gly391Trp)
c.286G>T (p.Gly96Trp)
n.2227+881G>T
n.1153G>T
c.667G>T (p.Gly223Trp)
 gnomAD v4
1g.55059532dupCA523275566PCSK9c.1550dup (p.Glu518Ter)
c.1907dup (p.Glu637Ter)
c.1175dup (p.Glu393Ter)
c.290dup (p.Glu98Ter)
n.2227+885dup
n.1157dup
c.671dup (p.Glu225Ter)
 gnomAD v2
1g.55059532delCA2645841032PCSK9c.1550del (p.Gly517ValfsTer?)
c.1907del (p.Gly636ValfsTer?)
c.1175del (p.Gly392ValfsTer?)
c.290del (p.Gly97ValfsTer?)
n.2227+885del
n.1157del
c.671del (p.Gly224ValfsTer?)
 gnomAD v4
1g.55059529G>ACA340479777PCSK9c.1547G>A (p.Gly516Glu)
c.1904G>A (p.Gly635Glu)
c.1172G>A (p.Gly391Glu)
c.287G>A (p.Gly96Glu)
n.2227+882G>A
n.1154G>A
c.668G>A (p.Gly223Glu)
 ClinVar dbSNP gnomAD v4
1g.55059529G>CCA340479779PCSK9c.1547G>C (p.Gly516Ala)
c.1904G>C (p.Gly635Ala)
c.1172G>C (p.Gly391Ala)
c.287G>C (p.Gly96Ala)
n.2227+882G>C
n.1154G>C
c.668G>C (p.Gly223Ala)
 dbSNP
1g.55059529G=CA1167984898PCSK9c.1547G= (p.Gly516=)
c.1904G= (p.Gly635=)
c.1172G= (p.Gly391=)
c.287G= (p.Gly96=)
n.2227+882G=
n.1154G=
c.668G= (p.Gly223=)
1g.55059529G>TCA22765521PCSK9c.1547G>T (p.Gly516Val)
c.1904G>T (p.Gly635Val)
c.1172G>T (p.Gly391Val)
c.287G>T (p.Gly96Val)
n.2227+882G>T
n.1154G>T
c.668G>T (p.Gly223Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55059530G>ACA037949PCSK9c.1548G>A (p.Gly516=)
c.1905G>A (p.Gly635=)
c.1173G>A (p.Gly391=)
c.288G>A (p.Gly96=)
n.2227+883G>A
n.1155G>A
c.669G>A (p.Gly223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.55059530G>CCA417960384PCSK9c.1548G>C (p.Gly516=)
c.1905G>C (p.Gly635=)
c.1173G>C (p.Gly391=)
c.288G>C (p.Gly96=)
n.2227+883G>C
n.1155G>C
c.669G>C (p.Gly223=)
1g.55059530G=CA1146519216PCSK9c.1548G= (p.Gly516=)
c.1905G= (p.Gly635=)
c.1173G= (p.Gly391=)
c.288G= (p.Gly96=)
n.2227+883G=
n.1155G=
c.669G= (p.Gly223=)
1g.55059530G>TCA417960383PCSK9c.1548G>T (p.Gly516=)
c.1905G>T (p.Gly635=)
c.1173G>T (p.Gly391=)
c.288G>T (p.Gly96=)
n.2227+883G>T
n.1155G>T
c.669G>T (p.Gly223=)
 gnomAD v4
1g.55059531G>ACA340479787PCSK9c.1549G>A (p.Gly517Ser)
c.1906G>A (p.Gly636Ser)
c.1174G>A (p.Gly392Ser)
c.289G>A (p.Gly97Ser)
n.2227+884G>A
n.1156G>A
c.670G>A (p.Gly224Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.55059531G>CCA340479783PCSK9c.1549G>C (p.Gly517Arg)
c.1906G>C (p.Gly636Arg)
c.1174G>C (p.Gly392Arg)
c.289G>C (p.Gly97Arg)
n.2227+884G>C
n.1156G>C
c.670G>C (p.Gly224Arg)
1g.55059531G=CA1167984899PCSK9c.1549G= (p.Gly517=)
c.1906G= (p.Gly636=)
c.1174G= (p.Gly392=)
c.289G= (p.Gly97=)
n.2227+884G=
n.1156G=
c.670G= (p.Gly224=)
1g.55059531G>TCA340479785PCSK9c.1549G>T (p.Gly517Cys)
c.1906G>T (p.Gly636Cys)
c.1174G>T (p.Gly392Cys)
c.289G>T (p.Gly97Cys)
n.2227+884G>T
n.1156G>T
c.670G>T (p.Gly224Cys)
 gnomAD v4
1g.55059532G>ACA340479789PCSK9c.1550G>A (p.Gly517Asp)
c.1907G>A (p.Gly636Asp)
c.1175G>A (p.Gly392Asp)
c.290G>A (p.Gly97Asp)
n.2227+885G>A
n.1157G>A
c.671G>A (p.Gly224Asp)
 gnomAD v4
1g.55059532G>CCA340479790PCSK9c.1550G>C (p.Gly517Ala)
c.1907G>C (p.Gly636Ala)
c.1175G>C (p.Gly392Ala)
c.290G>C (p.Gly97Ala)
n.2227+885G>C
n.1157G>C
c.671G>C (p.Gly224Ala)
 gnomAD v4
1g.55059532G=CA1167984900PCSK9c.1550G= (p.Gly517=)
c.1907G= (p.Gly636=)
c.1175G= (p.Gly392=)
c.290G= (p.Gly97=)
n.2227+885G=
n.1157G=
c.671G= (p.Gly224=)
1g.55059532G>TCA340479792PCSK9c.1550G>T (p.Gly517Val)
c.1907G>T (p.Gly636Val)
c.1175G>T (p.Gly392Val)
c.290G>T (p.Gly97Val)
n.2227+885G>T
n.1157G>T
c.671G>T (p.Gly224Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.55059533T>ACA417960385PCSK9c.1551T>A (p.Gly517=)
c.1908T>A (p.Gly636=)
c.1176T>A (p.Gly392=)
c.291T>A (p.Gly97=)
n.2227+886T>A
n.1158T>A
c.672T>A (p.Gly224=)
 gnomAD v4
1g.55059533T>CCA417960386PCSK9c.1551T>C (p.Gly517=)
c.1908T>C (p.Gly636=)
c.1176T>C (p.Gly392=)
c.291T>C (p.Gly97=)
n.2227+886T>C
n.1158T>C
c.672T>C (p.Gly224=)
1g.55059533T>GCA417960387PCSK9c.1551T>G (p.Gly517=)
c.1908T>G (p.Gly636=)
c.1176T>G (p.Gly392=)
c.291T>G (p.Gly97=)
n.2227+886T>G
n.1158T>G
c.672T>G (p.Gly224=)
 dbSNP
1g.55059533T=CA1167984901PCSK9c.1551T= (p.Gly517=)
c.1908T= (p.Gly636=)
c.1176T= (p.Gly392=)
c.291T= (p.Gly97=)
n.2227+886T=
n.1158T=
c.672T= (p.Gly224=)
1g.55059534G>ACA340479794PCSK9c.1552G>A (p.Glu518Lys)
c.1909G>A (p.Glu637Lys)
c.1177G>A (p.Glu393Lys)
c.292G>A (p.Glu98Lys)
n.2227+887G>A
n.1159G>A
c.673G>A (p.Glu225Lys)
 gnomAD v4
1g.55059534G>CCA340479796PCSK9c.1552G>C (p.Glu518Gln)
c.1909G>C (p.Glu637Gln)
c.1177G>C (p.Glu393Gln)
c.292G>C (p.Glu98Gln)
n.2227+887G>C
n.1159G>C
c.673G>C (p.Glu225Gln)
1g.55059534G>TCA340479797PCSK9c.1552G>T (p.Glu518Ter)
c.1909G>T (p.Glu637Ter)
c.1177G>T (p.Glu393Ter)
c.292G>T (p.Glu98Ter)
n.2227+887G>T
n.1159G>T
c.673G>T (p.Glu225Ter)
 gnomAD v4
1g.55059535A=CA1167984902PCSK9c.1553A= (p.Glu518=)
c.1910A= (p.Glu637=)
c.1178A= (p.Glu393=)
c.293A= (p.Glu98=)
n.2227+888A=
n.1160A=
c.674A= (p.Glu225=)
1g.55059535A>CCA340479798PCSK9c.1553A>C (p.Glu518Ala)
c.1910A>C (p.Glu637Ala)
c.1178A>C (p.Glu393Ala)
c.293A>C (p.Glu98Ala)
n.2227+888A>C
n.1160A>C
c.674A>C (p.Glu225Ala)
1g.55059535A>GCA340479799PCSK9c.1553A>G (p.Glu518Gly)
c.1910A>G (p.Glu637Gly)
c.1178A>G (p.Glu393Gly)
c.293A>G (p.Glu98Gly)
n.2227+888A>G
n.1160A>G
c.674A>G (p.Glu225Gly)
 gnomAD v4
1g.55059535A>TCA22765534PCSK9c.1553A>T (p.Glu518Val)
c.1910A>T (p.Glu637Val)
c.1178A>T (p.Glu393Val)
c.293A>T (p.Glu98Val)
n.2227+888A>T
n.1160A>T
c.674A>T (p.Glu225Val)
 dbSNP gnomAD v4
1g.55059536G>ACA417960388PCSK9c.1554G>A (p.Glu518=)
c.1911G>A (p.Glu637=)
c.1179G>A (p.Glu393=)
c.294G>A (p.Glu98=)
n.2227+889G>A
n.1161G>A
c.675G>A (p.Glu225=)
 dbSNP gnomAD v2 gnomAD v4
1g.55059536G>CCA340479801PCSK9c.1554G>C (p.Glu518Asp)
c.1911G>C (p.Glu637Asp)
c.1179G>C (p.Glu393Asp)
c.294G>C (p.Glu98Asp)
n.2227+889G>C
n.1161G>C
c.675G>C (p.Glu225Asp)
1g.55059536G=CA1167984903PCSK9c.1554G= (p.Glu518=)
c.1911G= (p.Glu637=)
c.1179G= (p.Glu393=)
c.294G= (p.Glu98=)
n.2227+889G=
n.1161G=
c.675G= (p.Glu225=)
1g.55059536G>TCA340479803PCSK9c.1554G>T (p.Glu518Asp)
c.1911G>T (p.Glu637Asp)
c.1179G>T (p.Glu393Asp)
c.294G>T (p.Glu98Asp)
n.2227+889G>T
n.1161G>T
c.675G>T (p.Glu225Asp)
 gnomAD v4
1g.55059537G>ACA340479808PCSK9c.1555G>A (p.Gly519Ser)
c.1912G>A (p.Gly638Ser)
c.1180G>A (p.Gly394Ser)
c.295G>A (p.Gly99Ser)
n.2227+890G>A
n.1162G>A
c.676G>A (p.Gly226Ser)
 ClinVar dbSNP gnomAD v4
1g.55059537G>CCA340479806PCSK9c.1555G>C (p.Gly519Arg)
c.1912G>C (p.Gly638Arg)
c.1180G>C (p.Gly394Arg)
c.295G>C (p.Gly99Arg)
n.2227+890G>C
n.1162G>C
c.676G>C (p.Gly226Arg)
1g.55059537G>TCA340479805PCSK9c.1555G>T (p.Gly519Cys)
c.1912G>T (p.Gly638Cys)
c.1180G>T (p.Gly394Cys)
c.295G>T (p.Gly99Cys)
n.2227+890G>T
n.1162G>T
c.676G>T (p.Gly226Cys)
 gnomAD v4
1g.55059538G>ACA037961PCSK9c.1556G>A (p.Gly519Asp)
c.1913G>A (p.Gly638Asp)
c.1181G>A (p.Gly394Asp)
c.296G>A (p.Gly99Asp)
n.2227+891G>A
n.1163G>A
c.677G>A (p.Gly226Asp)
 dbSNP ExAC gnomAD v4
1g.55059538G>CCA340479811PCSK9c.1556G>C (p.Gly519Ala)
c.1913G>C (p.Gly638Ala)
c.1181G>C (p.Gly394Ala)
c.296G>C (p.Gly99Ala)
n.2227+891G>C
n.1163G>C
c.677G>C (p.Gly226Ala)
1g.55059538G=CA1167984904PCSK9c.1556G= (p.Gly519=)
c.1913G= (p.Gly638=)
c.1181G= (p.Gly394=)
c.296G= (p.Gly99=)
n.2227+891G=
n.1163G=
c.677G= (p.Gly226=)
1g.55059538G>TCA340479813PCSK9c.1556G>T (p.Gly519Val)
c.1913G>T (p.Gly638Val)
c.1181G>T (p.Gly394Val)
c.296G>T (p.Gly99Val)
n.2227+891G>T
n.1163G>T
c.677G>T (p.Gly226Val)
 gnomAD v4
1g.55059539T>ACA417960390PCSK9c.1557T>A (p.Gly519=)
c.1914T>A (p.Gly638=)
c.1182T>A (p.Gly394=)
c.297T>A (p.Gly99=)
n.2227+892T>A
n.1164T>A
c.678T>A (p.Gly226=)
 gnomAD v4
1g.55059539T>CCA037983PCSK9c.1557T>C (p.Gly519=)
c.1914T>C (p.Gly638=)
c.1182T>C (p.Gly394=)
c.297T>C (p.Gly99=)
n.2227+892T>C
n.1164T>C
c.678T>C (p.Gly226=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55059539T>GCA417960391PCSK9c.1557T>G (p.Gly519=)
c.1914T>G (p.Gly638=)
c.1182T>G (p.Gly394=)
c.297T>G (p.Gly99=)
n.2227+892T>G
n.1164T>G
c.678T>G (p.Gly226=)
1g.55059539T=CA1143552723PCSK9c.1557T= (p.Gly519=)
c.1914T= (p.Gly638=)
c.1182T= (p.Gly394=)
c.297T= (p.Gly99=)
n.2227+892T=
n.1164T=
c.678T= (p.Gly226=)
1g.55059540G>ACA340479816PCSK9c.1558G>A (p.Val520Ile)
c.1915G>A (p.Val639Ile)
c.1183G>A (p.Val395Ile)
c.298G>A (p.Val100Ile)
n.2227+893G>A
n.1165G>A
c.679G>A (p.Val227Ile)
 gnomAD v4
1g.55059540G>CCA340479818PCSK9c.1558G>C (p.Val520Leu)
c.1915G>C (p.Val639Leu)
c.1183G>C (p.Val395Leu)
c.298G>C (p.Val100Leu)
n.2227+893G>C
n.1165G>C
c.679G>C (p.Val227Leu)
1g.55059540G>TCA340479820PCSK9c.1558G>T (p.Val520Phe)
c.1915G>T (p.Val639Phe)
c.1183G>T (p.Val395Phe)
c.298G>T (p.Val100Phe)
n.2227+893G>T
n.1165G>T
c.679G>T (p.Val227Phe)
 gnomAD v4
1g.55059541T>ACA340479822PCSK9c.1559T>A (p.Val520Asp)
c.1916T>A (p.Val639Asp)
c.1184T>A (p.Val395Asp)
c.299T>A (p.Val100Asp)
n.2227+894T>A
n.1166T>A
c.680T>A (p.Val227Asp)
1g.55059541T>CCA340479826PCSK9c.1559T>C (p.Val520Ala)
c.1916T>C (p.Val639Ala)
c.1184T>C (p.Val395Ala)
c.299T>C (p.Val100Ala)
n.2227+894T>C
n.1166T>C
c.680T>C (p.Val227Ala)
 gnomAD v4
1g.55059541T>GCA340479824PCSK9c.1559T>G (p.Val520Gly)
c.1916T>G (p.Val639Gly)
c.1184T>G (p.Val395Gly)
c.299T>G (p.Val100Gly)
n.2227+894T>G
n.1166T>G
c.680T>G (p.Val227Gly)
1g.55059542C>ACA417960392PCSK9c.1560C>A (p.Val520=)
c.1917C>A (p.Val639=)
c.1185C>A (p.Val395=)
c.300C>A (p.Val100=)
n.2227+895C>A
n.1167C>A
c.681C>A (p.Val227=)
 ClinVar gnomAD v4
1g.55059542C=CA1145424545PCSK9c.1560C= (p.Val520=)
c.1917C= (p.Val639=)
c.1185C= (p.Val395=)
c.300C= (p.Val100=)
n.2227+895C=
n.1167C=
c.681C= (p.Val227=)
1g.55059542C>GCA417960393PCSK9c.1560C>G (p.Val520=)
c.1917C>G (p.Val639=)
c.1185C>G (p.Val395=)
c.300C>G (p.Val100=)
n.2227+895C>G
n.1167C>G
c.681C>G (p.Val227=)
 COSMIC
1g.55059542C>TCA038006PCSK9c.1560C>T (p.Val520=)
c.1917C>T (p.Val639=)
c.1185C>T (p.Val395=)
c.300C>T (p.Val100=)
n.2227+895C>T
n.1167C>T
c.681C>T (p.Val227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55059543T>ACA340479828PCSK9c.1561T>A (p.Tyr521Asn)
c.1918T>A (p.Tyr640Asn)
c.1186T>A (p.Tyr396Asn)
c.301T>A (p.Tyr101Asn)
n.2227+896T>A
n.1168T>A
c.682T>A (p.Tyr228Asn)
 gnomAD v4
1g.55059543T>CCA340479829PCSK9c.1561T>C (p.Tyr521His)
c.1918T>C (p.Tyr640His)
c.1186T>C (p.Tyr396His)
c.301T>C (p.Tyr101His)
n.2227+896T>C
n.1168T>C
c.682T>C (p.Tyr228His)
 gnomAD v4 COSMIC
1g.55059543T>GCA340479831PCSK9c.1561T>G (p.Tyr521Asp)
c.1918T>G (p.Tyr640Asp)
c.1186T>G (p.Tyr396Asp)
c.301T>G (p.Tyr101Asp)
n.2227+896T>G
n.1168T>G
c.682T>G (p.Tyr228Asp)
1g.55059544A>CCA340479833PCSK9c.1562A>C (p.Tyr521Ser)
c.1919A>C (p.Tyr640Ser)
c.1187A>C (p.Tyr396Ser)
c.302A>C (p.Tyr101Ser)
n.2227+897A>C
n.1169A>C
c.683A>C (p.Tyr228Ser)
1g.55059544A>GCA340479836PCSK9c.1562A>G (p.Tyr521Cys)
c.1919A>G (p.Tyr640Cys)
c.1187A>G (p.Tyr396Cys)
c.302A>G (p.Tyr101Cys)
n.2227+897A>G
n.1169A>G
c.683A>G (p.Tyr228Cys)
1g.55059544A>TCA340479835PCSK9c.1562A>T (p.Tyr521Phe)
c.1919A>T (p.Tyr640Phe)
c.1187A>T (p.Tyr396Phe)
c.302A>T (p.Tyr101Phe)
n.2227+897A>T
n.1169A>T
c.683A>T (p.Tyr228Phe)
1g.55059545C>ACA340479839PCSK9c.1563C>A (p.Tyr521Ter)
c.1920C>A (p.Tyr640Ter)
c.1188C>A (p.Tyr396Ter)
c.303C>A (p.Tyr101Ter)
n.2227+898C>A
n.1170C>A
c.684C>A (p.Tyr228Ter)
 gnomAD v4
1g.55059545C=CA1167984905PCSK9c.1563C= (p.Tyr521=)
c.1920C= (p.Tyr640=)
c.1188C= (p.Tyr396=)
c.303C= (p.Tyr101=)
n.2227+898C=
n.1170C=
c.684C= (p.Tyr228=)
1g.55059545C>GCA340479841PCSK9c.1563C>G (p.Tyr521Ter)
c.1920C>G (p.Tyr640Ter)
c.1188C>G (p.Tyr396Ter)
c.303C>G (p.Tyr101Ter)
n.2227+898C>G
n.1170C>G
c.684C>G (p.Tyr228Ter)
1g.55059545C>TCA038024PCSK9c.1563C>T (p.Tyr521=)
c.1920C>T (p.Tyr640=)
c.1188C>T (p.Tyr396=)
c.303C>T (p.Tyr101=)
n.2227+898C>T
n.1170C>T
c.684C>T (p.Tyr228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55059546G>ACA038044PCSK9c.1564G>A (p.Ala522Thr)
c.1921G>A (p.Ala641Thr)
c.1189G>A (p.Ala397Thr)
c.304G>A (p.Ala102Thr)
n.2227+899G>A
n.1171G>A
c.685G>A (p.Ala229Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55059546G>CCA340479845PCSK9c.1564G>C (p.Ala522Pro)
c.1921G>C (p.Ala641Pro)
c.1189G>C (p.Ala397Pro)
c.304G>C (p.Ala102Pro)
n.2227+899G>C
n.1171G>C
c.685G>C (p.Ala229Pro)
1g.55059546G=CA1167984906PCSK9c.1564G= (p.Ala522=)
c.1921G= (p.Ala641=)
c.1189G= (p.Ala397=)
c.304G= (p.Ala102=)
n.2227+899G=
n.1171G=
c.685G= (p.Ala229=)
1g.55059546G>TCA340479847PCSK9c.1564G>T (p.Ala522Ser)
c.1921G>T (p.Ala641Ser)
c.1189G>T (p.Ala397Ser)
c.304G>T (p.Ala102Ser)
n.2227+899G>T
n.1171G>T
c.685G>T (p.Ala229Ser)
 dbSNP gnomAD v4
1g.55059547C>ACA340479850PCSK9c.1565C>A (p.Ala522Asp)
c.1922C>A (p.Ala641Asp)
c.1190C>A (p.Ala397Asp)
c.305C>A (p.Ala102Asp)
n.2227+900C>A
n.1172C>A
c.686C>A (p.Ala229Asp)
 gnomAD v4
1g.55059547C>GCA340479851PCSK9c.1565C>G (p.Ala522Gly)
c.1922C>G (p.Ala641Gly)
c.1190C>G (p.Ala397Gly)
c.305C>G (p.Ala102Gly)
n.2227+900C>G
n.1172C>G
c.686C>G (p.Ala229Gly)
1g.55059547C>TCA340479853PCSK9c.1565C>T (p.Ala522Val)
c.1922C>T (p.Ala641Val)
c.1190C>T (p.Ala397Val)
c.305C>T (p.Ala102Val)
n.2227+900C>T
n.1172C>T
c.686C>T (p.Ala229Val)
 gnomAD v4 COSMIC
1g.55059548C>ACA417960394PCSK9c.1566C>A (p.Ala522=)
c.1923C>A (p.Ala641=)
c.1191C>A (p.Ala397=)
c.306C>A (p.Ala102=)
n.2227+901C>A
n.1173C>A
c.687C>A (p.Ala229=)
 gnomAD v4
1g.55059548C>GCA417960395PCSK9c.1566C>G (p.Ala522=)
c.1923C>G (p.Ala641=)
c.1191C>G (p.Ala397=)
c.306C>G (p.Ala102=)
n.2227+901C>G
n.1173C>G
c.687C>G (p.Ala229=)
1g.55059548C>TCA417960396PCSK9c.1566C>T (p.Ala522=)
c.1923C>T (p.Ala641=)
c.1191C>T (p.Ala397=)
c.306C>T (p.Ala102=)
n.2227+901C>T
n.1173C>T
c.687C>T (p.Ala229=)
 gnomAD v4
1g.55059549A=CA1167984907PCSK9c.1567A= (p.Ile523=)
c.1924A= (p.Ile642=)
c.1192A= (p.Ile398=)
c.307A= (p.Ile103=)
n.2227+902A=
n.1174A=
c.688A= (p.Ile230=)
1g.55059549A>CCA340479855PCSK9c.1567A>C (p.Ile523Leu)
c.1924A>C (p.Ile642Leu)
c.1192A>C (p.Ile398Leu)
c.307A>C (p.Ile103Leu)
n.2227+902A>C
n.1174A>C
c.688A>C (p.Ile230Leu)
1g.55059549A>GCA340479857PCSK9c.1567A>G (p.Ile523Val)
c.1924A>G (p.Ile642Val)
c.1192A>G (p.Ile398Val)
c.307A>G (p.Ile103Val)
n.2227+902A>G
n.1174A>G
c.688A>G (p.Ile230Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.55059549A>TCA340479859PCSK9c.1567A>T (p.Ile523Phe)
c.1924A>T (p.Ile642Phe)
c.1192A>T (p.Ile398Phe)
c.307A>T (p.Ile103Phe)
n.2227+902A>T
n.1174A>T
c.688A>T (p.Ile230Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.55059550T>ACA340479865PCSK9c.1568T>A (p.Ile523Asn)
c.1925T>A (p.Ile642Asn)
c.1193T>A (p.Ile398Asn)
c.308T>A (p.Ile103Asn)
n.2227+903T>A
n.1175T>A
c.689T>A (p.Ile230Asn)
1g.55059550T>CCA340479864PCSK9c.1568T>C (p.Ile523Thr)
c.1925T>C (p.Ile642Thr)
c.1193T>C (p.Ile398Thr)
c.308T>C (p.Ile103Thr)
n.2227+903T>C
n.1175T>C
c.689T>C (p.Ile230Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.55059550T>GCA340479862PCSK9c.1568T>G (p.Ile523Ser)
c.1925T>G (p.Ile642Ser)
c.1193T>G (p.Ile398Ser)
c.308T>G (p.Ile103Ser)
n.2227+903T>G
n.1175T>G
c.689T>G (p.Ile230Ser)
1g.55059550T=CA1167984908PCSK9c.1568T= (p.Ile523=)
c.1925T= (p.Ile642=)
c.1193T= (p.Ile398=)
c.308T= (p.Ile103=)
n.2227+903T=
n.1175T=
c.689T= (p.Ile230=)
1g.55059551T>ACA417960397PCSK9c.1569T>A (p.Ile523=)
c.1926T>A (p.Ile642=)
c.1194T>A (p.Ile398=)
c.309T>A (p.Ile103=)
n.2227+904T>A
n.1176T>A
c.690T>A (p.Ile230=)
1g.55059551T>CCA417960398PCSK9c.1569T>C (p.Ile523=)
c.1926T>C (p.Ile642=)
c.1194T>C (p.Ile398=)
c.309T>C (p.Ile103=)
n.2227+904T>C
n.1176T>C
c.690T>C (p.Ile230=)
 gnomAD v4
1g.55059551T>GCA340479867PCSK9c.1569T>G (p.Ile523Met)
c.1926T>G (p.Ile642Met)
c.1194T>G (p.Ile398Met)
c.309T>G (p.Ile103Met)
n.2227+904T>G
n.1176T>G
c.690T>G (p.Ile230Met)
1g.55059552G>ACA038072PCSK9c.1570G>A (p.Ala524Thr)
c.1927G>A (p.Ala643Thr)
c.1195G>A (p.Ala399Thr)
c.310G>A (p.Ala104Thr)
n.2227+905G>A
n.1177G>A
c.691G>A (p.Ala231Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.55059552G>CCA22765566PCSK9c.1570G>C (p.Ala524Pro)
c.1927G>C (p.Ala643Pro)
c.1195G>C (p.Ala399Pro)
c.310G>C (p.Ala104Pro)
n.2227+905G>C
n.1177G>C
c.691G>C (p.Ala231Pro)
 ClinVar dbSNP gnomAD v4
1g.55059552G=CA1148348936PCSK9c.1570G= (p.Ala524=)
c.1927G= (p.Ala643=)
c.1195G= (p.Ala399=)
c.310G= (p.Ala104=)
n.2227+905G=
n.1177G=
c.691G= (p.Ala231=)
1g.55059552G>TCA340479872PCSK9c.1570G>T (p.Ala524Ser)
c.1927G>T (p.Ala643Ser)
c.1195G>T (p.Ala399Ser)
c.310G>T (p.Ala104Ser)
n.2227+905G>T
n.1177G>T
c.691G>T (p.Ala231Ser)
 gnomAD v4
1g.55059553C>ACA340479874PCSK9c.1571C>A (p.Ala524Asp)
c.1928C>A (p.Ala643Asp)
c.1196C>A (p.Ala399Asp)
c.311C>A (p.Ala104Asp)
n.2227+906C>A
n.1178C>A
c.692C>A (p.Ala231Asp)
 gnomAD v4
1g.55059553C>GCA340479876PCSK9c.1571C>G (p.Ala524Gly)
c.1928C>G (p.Ala643Gly)
c.1196C>G (p.Ala399Gly)
c.311C>G (p.Ala104Gly)
n.2227+906C>G
n.1178C>G
c.692C>G (p.Ala231Gly)
1g.55059553C>TCA340479878PCSK9c.1571C>T (p.Ala524Val)
c.1928C>T (p.Ala643Val)
c.1196C>T (p.Ala399Val)
c.311C>T (p.Ala104Val)
n.2227+906C>T
n.1178C>T
c.692C>T (p.Ala231Val)
 gnomAD v4
1g.55059554C>ACA417960399PCSK9c.1572C>A (p.Ala524=)
c.1929C>A (p.Ala643=)
c.1197C>A (p.Ala399=)
c.312C>A (p.Ala104=)
n.2227+907C>A
n.1179C>A
c.693C>A (p.Ala231=)
 gnomAD v4
1g.55059554C=CA1167984909PCSK9c.1572C= (p.Ala524=)
c.1929C= (p.Ala643=)
c.1197C= (p.Ala399=)
c.312C= (p.Ala104=)
n.2227+907C=
n.1179C=
c.693C= (p.Ala231=)
1g.55059554C>GCA417960400PCSK9c.1572C>G (p.Ala524=)
c.1929C>G (p.Ala643=)
c.1197C>G (p.Ala399=)
c.312C>G (p.Ala104=)
n.2227+907C>G
n.1179C>G
c.693C>G (p.Ala231=)
1g.55059554C>TCA417960401PCSK9c.1572C>T (p.Ala524=)
c.1929C>T (p.Ala643=)
c.1197C>T (p.Ala399=)
c.312C>T (p.Ala104=)
n.2227+907C>T
n.1179C>T
c.693C>T (p.Ala231=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55059555A>CCA417960402PCSK9c.1573A>C (p.Arg525=)
c.1930A>C (p.Arg644=)
c.1198A>C (p.Arg400=)
c.313A>C (p.Arg105=)
n.2227+908A>C
n.1180A>C
c.694A>C (p.Arg232=)
1g.55059555A>GCA340479880PCSK9c.1573A>G (p.Arg525Gly)
c.1930A>G (p.Arg644Gly)
c.1198A>G (p.Arg400Gly)
c.313A>G (p.Arg105Gly)
n.2227+908A>G
n.1180A>G
c.694A>G (p.Arg232Gly)
 gnomAD v4
1g.55059555A>TCA340479882PCSK9c.1573A>T (p.Arg525Trp)
c.1930A>T (p.Arg644Trp)
c.1198A>T (p.Arg400Trp)
c.313A>T (p.Arg105Trp)
n.2227+908A>T
n.1180A>T
c.694A>T (p.Arg232Trp)
 gnomAD v4
1g.55059556G>ACA340479884PCSK9c.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
1g.55059556G>CCA22765571PCSK9c.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
1g.55059556G=CA1141732630PCSK9c.1574G= (p.Arg525=)
c.1931G= (p.Arg644=)
c.1199G= (p.Arg400=)
c.314G= (p.Arg105=)
n.2227+909G=
n.1181G=
c.695G= (p.Arg232=)
1g.55059556G>TCA340479886PCSK9c.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
1g.55059557G>ACA417960403PCSK9c.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
1g.55059557G>CCA340479888PCSK9c.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
1g.55059557G>TCA340479890PCSK9c.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
1g.55059558T>ACA340479892PCSK9c.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)
1g.55059558T>CCA340479894PCSK9c.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
1g.55059558T>GCA340479896PCSK9c.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)
1g.55059559G>ACA340479898PCSK9c.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
1g.55059559G>CCA340479902PCSK9c.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)
1g.55059559G>TCA340479900PCSK9c.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
1g.55059560C>ACA340479904PCSK9c.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
1g.55059560C=CA1167984910PCSK9c.1578C= (p.Cys526=)
c.1935C= (p.Cys645=)
c.1203C= (p.Cys401=)
c.318C= (p.Cys106=)
n.2227+913C=
n.1185C=
c.699C= (p.Cys233=)
1g.55059560C>GCA340479905PCSK9c.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
1g.55059560C>TCA417960404PCSK9c.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
1g.55059561T>ACA340479906PCSK9c.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)
1g.55059561T>CCA340479907PCSK9c.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)
1g.55059561T>GCA340479908PCSK9c.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
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

Number of alleles fetched