Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched