| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55059519A= | CA1167984892 | PCSK9 | c.1537A= (p.Asn513=) c.1894A= (p.Asn632=) c.1162A= (p.Asn388=) c.277A= (p.Asn93=) n.2227+872A= n.1144A= c.658A= (p.Asn220=) | |
| 1 | g.55059519A>C | CA340479722 | PCSK9 | c.1537A>C (p.Asn513His) c.1894A>C (p.Asn632His) c.1162A>C (p.Asn388His) c.277A>C (p.Asn93His) n.2227+872A>C n.1144A>C c.658A>C (p.Asn220His) | |
| 1 | g.55059519A>G | CA10654837 | PCSK9 | c.1537A>G (p.Asn513Asp) c.1894A>G (p.Asn632Asp) c.1162A>G (p.Asn388Asp) c.277A>G (p.Asn93Asp) n.2227+872A>G n.1144A>G c.658A>G (p.Asn220Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55059519A>T | CA340479725 | PCSK9 | c.1537A>T (p.Asn513Tyr) c.1894A>T (p.Asn632Tyr) c.1162A>T (p.Asn388Tyr) c.277A>T (p.Asn93Tyr) n.2227+872A>T n.1144A>T c.658A>T (p.Asn220Tyr) | gnomAD v4 |
| 1 | g.55059520del | CA2499214813 | PCSK9 | c.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 |
| 1 | g.55059520A= | CA1167984893 | PCSK9 | c.1538A= (p.Asn513=) c.1895A= (p.Asn632=) c.1163A= (p.Asn388=) c.278A= (p.Asn93=) n.2227+873A= n.1145A= c.659A= (p.Asn220=) | |
| 1 | g.55059520A>C | CA340479726 | PCSK9 | c.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) | |
| 1 | g.55059520A>G | CA340479728 | PCSK9 | c.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 |
| 1 | g.55059520A>T | CA340479730 | PCSK9 | c.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 |
| 1 | g.55059521C>A | CA340479732 | PCSK9 | c.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 |
| 1 | g.55059521C= | CA1167984894 | PCSK9 | c.1539C= (p.Asn513=) c.1896C= (p.Asn632=) c.1164C= (p.Asn388=) c.279C= (p.Asn93=) n.2227+874C= n.1146C= c.660C= (p.Asn220=) | |
| 1 | g.55059521C>G | CA340479734 | PCSK9 | c.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) | |
| 1 | g.55059521C>T | CA037929 | PCSK9 | c.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 |
| 1 | g.55059522G>A | CA340479739 | PCSK9 | c.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 |
| 1 | g.55059522G>C | CA340479741 | PCSK9 | c.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) | |
| 1 | g.55059522G= | CA1167984895 | PCSK9 | c.1540G= (p.Ala514=) c.1897G= (p.Ala633=) c.1165G= (p.Ala389=) c.280G= (p.Ala94=) n.2227+875G= n.1147G= c.661G= (p.Ala221=) | |
| 1 | g.55059522G>T | CA340479743 | PCSK9 | c.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 |
| 1 | g.55059523C>A | CA340479753 | PCSK9 | c.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 |
| 1 | g.55059523C>G | CA340479749 | PCSK9 | c.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) | |
| 1 | g.55059523C>T | CA340479746 | PCSK9 | c.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) | |
| 1 | g.55059523_55059525delinsCTT | CA1167984896 | PCSK9 | c.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=) | |
| 1 | g.55059524T>A | CA417960379 | PCSK9 | c.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 |
| 1 | g.55059524T>C | CA417960380 | PCSK9 | c.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 |
| 1 | g.55059524T>G | CA417960381 | PCSK9 | c.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=) | |
| 1 | g.55059524_55059527delinsTTTT | CA1140607412 | PCSK9 | c.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=) | |
| 1 | g.55059527dup | CA2645841009 | PCSK9 | c.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 |
| 1 | g.55059527del | CA22765520 | PCSK9 | c.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 |
| 1 | g.55059526_55059527del | CA037938 | PCSK9 | c.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 |
| 1 | g.55059525T>A | CA340479757 | PCSK9 | c.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) | |
| 1 | g.55059525T>C | CA340479761 | PCSK9 | c.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 |
| 1 | g.55059525T>G | CA340479759 | PCSK9 | c.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) | |
| 1 | g.55059526T>A | CA340479763 | PCSK9 | c.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 |
| 1 | g.55059526T>C | CA340479765 | PCSK9 | c.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) | |
| 1 | g.55059526T>G | CA340479766 | PCSK9 | c.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) | |
| 1 | g.55059527T>A | CA340479768 | PCSK9 | c.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) | |
| 1 | g.55059527T>C | CA417960382 | PCSK9 | c.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 |
| 1 | g.55059527T>G | CA340479770 | PCSK9 | c.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 |
| 1 | g.55059527T= | CA1167984897 | PCSK9 | c.1545T= (p.Phe515=) c.1902T= (p.Phe634=) c.1170T= (p.Phe390=) c.285T= (p.Phe95=) n.2227+880T= n.1152T= c.666T= (p.Phe222=) | |
| 1 | g.55059528G>A | CA340479772 | PCSK9 | c.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 |
| 1 | g.55059528G>C | CA340479774 | PCSK9 | c.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 |
| 1 | g.55059528G>T | CA340479775 | PCSK9 | c.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 |
| 1 | g.55059532dup | CA523275566 | PCSK9 | c.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 |
| 1 | g.55059532del | CA2645841032 | PCSK9 | c.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 |
| 1 | g.55059529G>A | CA340479777 | PCSK9 | c.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 |
| 1 | g.55059529G>C | CA340479779 | PCSK9 | c.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 |
| 1 | g.55059529G= | CA1167984898 | PCSK9 | c.1547G= (p.Gly516=) c.1904G= (p.Gly635=) c.1172G= (p.Gly391=) c.287G= (p.Gly96=) n.2227+882G= n.1154G= c.668G= (p.Gly223=) | |
| 1 | g.55059529G>T | CA22765521 | PCSK9 | c.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 |
| 1 | g.55059530G>A | CA037949 | PCSK9 | c.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 |
| 1 | g.55059530G>C | CA417960384 | PCSK9 | c.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=) | |
| 1 | g.55059530G= | CA1146519216 | PCSK9 | c.1548G= (p.Gly516=) c.1905G= (p.Gly635=) c.1173G= (p.Gly391=) c.288G= (p.Gly96=) n.2227+883G= n.1155G= c.669G= (p.Gly223=) |