UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.96416042T>A | CA360482961 | PCSK1 | c.700A>T (p.Lys234Ter) c.559A>T (p.Lys187Ter) n.354+36390T>A | |
| 5 | g.96416042T>C | CA229007 | PCSK1 | c.700A>G (p.Lys234Glu) c.559A>G (p.Lys187Glu) n.354+36390T>C | ClinVar dbSNP |
| 5 | g.96416042T>G | CA360482964 | PCSK1 | c.700A>C (p.Lys234Gln) c.559A>C (p.Lys187Gln) n.354+36390T>G | |
| 5 | g.96416042T= | CA1565411981 | PCSK1 | c.700A= (p.Lys234=) c.559A= (p.Lys187=) n.354+36390T= | |
| 5 | g.96416043G>A | CA445496424 | PCSK1 | c.699C>T (p.Ser233=) c.558C>T (p.Ser186=) n.354+36391G>A | |
| 5 | g.96416043G>C | CA445496426 | PCSK1 | c.699C>G (p.Ser233=) c.558C>G (p.Ser186=) n.354+36391G>C | |
| 5 | g.96416043G>T | CA445496429 | PCSK1 | c.699C>A (p.Ser233=) c.558C>A (p.Ser186=) n.354+36391G>T | gnomAD v4 |
| 5 | g.96416044G>A | CA360482967 | PCSK1 | c.698C>T (p.Ser233Phe) c.557C>T (p.Ser186Phe) n.354+36392G>A | |
| 5 | g.96416044G>C | CA360482968 | PCSK1 | c.698C>G (p.Ser233Cys) c.557C>G (p.Ser186Cys) n.354+36392G>C | |
| 5 | g.96416044G>T | CA360482969 | PCSK1 | c.698C>A (p.Ser233Tyr) c.557C>A (p.Ser186Tyr) n.354+36392G>T | gnomAD v4 |
| 5 | g.96416045A>C | CA360482970 | PCSK1 | c.697T>G (p.Ser233Ala) c.556T>G (p.Ser186Ala) n.354+36393A>C | |
| 5 | g.96416045A>G | CA360482972 | PCSK1 | c.697T>C (p.Ser233Pro) c.556T>C (p.Ser186Pro) n.354+36393A>G | |
| 5 | g.96416045A>T | CA360482974 | PCSK1 | c.697T>A (p.Ser233Thr) c.556T>A (p.Ser186Thr) n.354+36393A>T | |
| 5 | g.96416046A>C | CA360482976 | PCSK1 | c.696T>G (p.Asn232Lys) c.555T>G (p.Asn185Lys) n.354+36394A>C | |
| 5 | g.96416046A>G | CA445496444 | PCSK1 | c.696T>C (p.Asn232=) c.555T>C (p.Asn185=) n.354+36394A>G | gnomAD v4 |
| 5 | g.96416046A>T | CA360482978 | PCSK1 | c.696T>A (p.Asn232Lys) c.555T>A (p.Asn185Lys) n.354+36394A>T | COSMIC |
| 5 | g.96416047T>A | CA360482979 | PCSK1 | c.695A>T (p.Asn232Ile) c.554A>T (p.Asn185Ile) n.354+36395T>A | |
| 5 | g.96416047T>C | CA360482981 | PCSK1 | c.695A>G (p.Asn232Ser) c.554A>G (p.Asn185Ser) n.354+36395T>C | gnomAD v4 |
| 5 | g.96416047T>G | CA360482983 | PCSK1 | c.695A>C (p.Asn232Thr) c.554A>C (p.Asn185Thr) n.354+36395T>G | |
| 5 | g.96416048T>A | CA360482984 | PCSK1 | c.694A>T (p.Asn232Tyr) c.553A>T (p.Asn185Tyr) n.354+36396T>A | |
| 5 | g.96416048T>C | CA360482986 | PCSK1 | c.694A>G (p.Asn232Asp) c.553A>G (p.Asn185Asp) n.354+36396T>C | |
| 5 | g.96416048T>G | CA360482987 | PCSK1 | c.694A>C (p.Asn232His) c.553A>C (p.Asn185His) n.354+36396T>G | |
| 5 | g.96416049G>A | CA445496462 | PCSK1 | c.693C>T (p.Tyr231=) c.552C>T (p.Tyr184=) n.354+36397G>A | |
| 5 | g.96416049G>C | CA360482989 | PCSK1 | c.693C>G (p.Tyr231Ter) c.552C>G (p.Tyr184Ter) n.354+36397G>C | |
| 5 | g.96416049G>T | CA360482990 | PCSK1 | c.693C>A (p.Tyr231Ter) c.552C>A (p.Tyr184Ter) n.354+36397G>T | gnomAD v4 |
| 5 | g.96416050T>A | CA360482992 | PCSK1 | c.692A>T (p.Tyr231Phe) c.551A>T (p.Tyr184Phe) n.354+36398T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96416050T>C | CA3350401 | PCSK1 | c.692A>G (p.Tyr231Cys) c.551A>G (p.Tyr184Cys) n.354+36398T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96416050T>G | CA360482995 | PCSK1 | c.692A>C (p.Tyr231Ser) c.551A>C (p.Tyr184Ser) n.354+36398T>G | |
| 5 | g.96416050T= | CA1565411982 | PCSK1 | c.692A= (p.Tyr231=) c.551A= (p.Tyr184=) n.354+36398T= | |
| 5 | g.96416051A= | CA1565411983 | PCSK1 | c.691T= (p.Tyr231=) c.550T= (p.Tyr184=) n.354+36399A= | |
| 5 | g.96416051A>C | CA360482997 | PCSK1 | c.691T>G (p.Tyr231Asp) c.550T>G (p.Tyr184Asp) n.354+36399A>C | |
| 5 | g.96416051A>G | CA360483001 | PCSK1 | c.691T>C (p.Tyr231His) c.550T>C (p.Tyr184His) n.354+36399A>G | dbSNP gnomAD v4 |
| 5 | g.96416051A>T | CA360482999 | PCSK1 | c.691T>A (p.Tyr231Asn) c.550T>A (p.Tyr184Asn) n.354+36399A>T | |
| 5 | g.96416052T>A | CA445496478 | PCSK1 | c.690A>T (p.Ala230=) c.549A>T (p.Ala183=) n.354+36400T>A | |
| 5 | g.96416052T>C | CA445496480 | PCSK1 | c.690A>G (p.Ala230=) c.549A>G (p.Ala183=) n.354+36400T>C | |
| 5 | g.96416052T>G | CA445496482 | PCSK1 | c.690A>C (p.Ala230=) c.549A>C (p.Ala183=) n.354+36400T>G | |
| 5 | g.96416053G>A | CA360483004 | PCSK1 | c.689C>T (p.Ala230Val) c.548C>T (p.Ala183Val) n.354+36401G>A | gnomAD v4 |
| 5 | g.96416053G>C | CA360483007 | PCSK1 | c.689C>G (p.Ala230Gly) c.548C>G (p.Ala183Gly) n.354+36401G>C | |
| 5 | g.96416053G>T | CA360483006 | PCSK1 | c.689C>A (p.Ala230Glu) c.548C>A (p.Ala183Glu) n.354+36401G>T | |
| 5 | g.96416054C>A | CA360483009 | PCSK1 | c.688G>T (p.Ala230Ser) c.547G>T (p.Ala183Ser) n.354+36402C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96416054C= | CA1565411984 | PCSK1 | c.688G= (p.Ala230=) c.547G= (p.Ala183=) n.354+36402C= | |
| 5 | g.96416054C>G | CA360483013 | PCSK1 | c.688G>C (p.Ala230Pro) c.547G>C (p.Ala183Pro) n.354+36402C>G | |
| 5 | g.96416054C>T | CA360483011 | PCSK1 | c.688G>A (p.Ala230Thr) c.547G>A (p.Ala183Thr) n.354+36402C>T | |
| 5 | g.96416055A>C | CA445496496 | PCSK1 | c.687T>G (p.Val229=) c.546T>G (p.Val182=) n.354+36403A>C | |
| 5 | g.96416055A>G | CA445496498 | PCSK1 | c.687T>C (p.Val229=) c.546T>C (p.Val182=) n.354+36403A>G | |
| 5 | g.96416055A>T | CA445496500 | PCSK1 | c.687T>A (p.Val229=) c.546T>A (p.Val182=) n.354+36403A>T | |
| 5 | g.96416056A>C | CA360483015 | PCSK1 | c.686T>G (p.Val229Gly) c.545T>G (p.Val182Gly) n.354+36404A>C | |
| 5 | g.96416056A>G | CA360483017 | PCSK1 | c.686T>C (p.Val229Ala) c.545T>C (p.Val182Ala) n.354+36404A>G | |
| 5 | g.96416056A>T | CA360483019 | PCSK1 | c.686T>A (p.Val229Asp) c.545T>A (p.Val182Asp) n.354+36404A>T | |
| 5 | g.96416057C>A | CA360483021 | PCSK1 | c.685G>T (p.Val229Phe) c.544G>T (p.Val182Phe) n.354+36405C>A | |
| 5 | g.96416057C= | CA1565411985 | PCSK1 | c.685G= (p.Val229=) c.544G= (p.Val182=) n.354+36405C= | |
| 5 | g.96416057C>G | CA360483024 | PCSK1 | c.685G>C (p.Val229Leu) c.544G>C (p.Val182Leu) n.354+36405C>G | |
| 5 | g.96416057C>T | CA3350402 | PCSK1 | c.685G>A (p.Val229Ile) c.544G>A (p.Val182Ile) n.354+36405C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416058T>A | CA445496514 | PCSK1 | c.684A>T (p.Gly228=) c.543A>T (p.Gly181=) n.354+36406T>A | |
| 5 | g.96416058T>C | CA445496516 | PCSK1 | c.684A>G (p.Gly228=) c.543A>G (p.Gly181=) n.354+36406T>C | |
| 5 | g.96416058T>G | CA445496519 | PCSK1 | c.684A>C (p.Gly228=) c.543A>C (p.Gly181=) n.354+36406T>G | |
| 5 | g.96416059C>A | CA3350403 | PCSK1 | c.683G>T (p.Gly228Val) c.542G>T (p.Gly181Val) n.354+36407C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96416059C= | CA1565411986 | PCSK1 | c.683G= (p.Gly228=) c.542G= (p.Gly181=) n.354+36407C= | |
| 5 | g.96416059C>G | CA360483028 | PCSK1 | c.683G>C (p.Gly228Ala) c.542G>C (p.Gly181Ala) n.354+36407C>G | |
| 5 | g.96416059C>T | CA360483030 | PCSK1 | c.683G>A (p.Gly228Glu) c.542G>A (p.Gly181Glu) n.354+36407C>T | dbSNP |
| 5 | g.96416060C>A | CA360483032 | PCSK1 | c.682G>T (p.Gly228Ter) c.541G>T (p.Gly181Ter) n.354+36408C>A | |
| 5 | g.96416060C>G | CA360483034 | PCSK1 | c.682G>C (p.Gly228Arg) c.541G>C (p.Gly181Arg) n.354+36408C>G | |
| 5 | g.96416060C>T | CA360483036 | PCSK1 | c.682G>A (p.Gly228Arg) c.541G>A (p.Gly181Arg) n.354+36408C>T | |
| 5 | g.96416060_96416061delinsCA | CA1565411987 | PCSK1 | c.681_682delinsTG (p.Val227=) c.540_541delinsTG (p.Val180=) n.354+36408_354+36409delinsCA | |
| 5 | g.96416061A>C | CA445496535 | PCSK1 | c.681T>G (p.Val227=) c.540T>G (p.Val180=) n.354+36409A>C | |
| 5 | g.96416061A>G | CA445496539 | PCSK1 | c.681T>C (p.Val227=) c.540T>C (p.Val180=) n.354+36409A>G | |
| 5 | g.96416061A>T | CA445496537 | PCSK1 | c.681T>A (p.Val227=) c.540T>A (p.Val180=) n.354+36409A>T | |
| 5 | g.96416062del | CA815887488 | PCSK1 | c.681del (p.Gly228GlufsTer11) c.540del (p.Gly181GlufsTer11) n.354+36410del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96416062A= | CA1565411988 | PCSK1 | c.680T= (p.Val227=) c.539T= (p.Val180=) n.354+36410A= | |
| 5 | g.96416062A>C | CA360483038 | PCSK1 | c.680T>G (p.Val227Gly) c.539T>G (p.Val180Gly) n.354+36410A>C | |
| 5 | g.96416062A>G | CA360483041 | PCSK1 | c.680T>C (p.Val227Ala) c.539T>C (p.Val180Ala) n.354+36410A>G | dbSNP gnomAD v4 |
| 5 | g.96416062A>T | CA360483040 | PCSK1 | c.680T>A (p.Val227Asp) c.539T>A (p.Val180Asp) n.354+36410A>T | |
| 5 | g.96416063C>A | CA360483043 | PCSK1 | c.679G>T (p.Val227Phe) c.538G>T (p.Val180Phe) n.354+36411C>A | |
| 5 | g.96416063C= | CA1565411989 | PCSK1 | c.679G= (p.Val227=) c.538G= (p.Val180=) n.354+36411C= | |
| 5 | g.96416063C>G | CA360483045 | PCSK1 | c.679G>C (p.Val227Leu) c.538G>C (p.Val180Leu) n.354+36411C>G | |
| 5 | g.96416063C>T | CA360483046 | PCSK1 | c.679G>A (p.Val227Ile) c.538G>A (p.Val180Ile) n.354+36411C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.96416066del | CA2695204706 | PCSK1 | c.679del (p.Val227LeufsTer12) c.538del (p.Val180LeufsTer12) n.354+36414del | |
| 5 | g.96416064C>A | CA445496554 | PCSK1 | c.678G>T (p.Gly226=) c.537G>T (p.Gly179=) n.354+36412C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96416064C= | CA1565411990 | PCSK1 | c.678G= (p.Gly226=) c.537G= (p.Gly179=) n.354+36412C= | |
| 5 | g.96416064C>G | CA445496558 | PCSK1 | c.678G>C (p.Gly226=) c.537G>C (p.Gly179=) n.354+36412C>G | dbSNP |
| 5 | g.96416064C>T | CA445496556 | PCSK1 | c.678G>A (p.Gly226=) c.537G>A (p.Gly179=) n.354+36412C>T | |
| 5 | g.96416065C>A | CA360483050 | PCSK1 | c.677G>T (p.Gly226Val) c.536G>T (p.Gly179Val) n.354+36413C>A | |
| 5 | g.96416065C>G | CA360483051 | PCSK1 | c.677G>C (p.Gly226Ala) c.536G>C (p.Gly179Ala) n.354+36413C>G | |
| 5 | g.96416065C>T | CA360483054 | PCSK1 | c.677G>A (p.Gly226Glu) c.536G>A (p.Gly179Glu) n.354+36413C>T | |
| 5 | g.96416066C>A | CA360483056 | PCSK1 | c.676G>T (p.Gly226Trp) c.535G>T (p.Gly179Trp) n.354+36414C>A | |
| 5 | g.96416066C= | CA1565411991 | PCSK1 | c.676G= (p.Gly226=) c.535G= (p.Gly179=) n.354+36414C= | |
| 5 | g.96416066C>G | CA360483058 | PCSK1 | c.676G>C (p.Gly226Arg) c.535G>C (p.Gly179Arg) n.354+36414C>G | gnomAD v4 |
| 5 | g.96416066C>T | CA3350404 | PCSK1 | c.676G>A (p.Gly226Arg) c.535G>A (p.Gly179Arg) n.354+36414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416067G>A | CA3350405 | PCSK1 | c.675C>T (p.Cys225=) c.534C>T (p.Cys178=) n.354+36415G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416067G>C | CA360483065 | PCSK1 | c.675C>G (p.Cys225Trp) c.534C>G (p.Cys178Trp) n.354+36415G>C | |
| 5 | g.96416067G= | CA1565411992 | PCSK1 | c.675C= (p.Cys225=) c.534C= (p.Cys178=) n.354+36415G= | |
| 5 | g.96416067G>T | CA360483062 | PCSK1 | c.675C>A (p.Cys225Ter) c.534C>A (p.Cys178Ter) n.354+36415G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.96416068C>A | CA360483068 | PCSK1 | c.674G>T (p.Cys225Phe) c.533G>T (p.Cys178Phe) n.354+36416C>A | |
| 5 | g.96416068C>G | CA360483069 | PCSK1 | c.674G>C (p.Cys225Ser) c.533G>C (p.Cys178Ser) n.354+36416C>G | |
| 5 | g.96416068C>T | CA360483071 | PCSK1 | c.674G>A (p.Cys225Tyr) c.533G>A (p.Cys178Tyr) n.354+36416C>T | gnomAD v4 |
| 5 | g.96416069A>C | CA360483073 | PCSK1 | c.673T>G (p.Cys225Gly) c.532T>G (p.Cys178Gly) n.354+36417A>C | |
| 5 | g.96416069A>G | CA360483075 | PCSK1 | c.673T>C (p.Cys225Arg) c.532T>C (p.Cys178Arg) n.354+36417A>G | gnomAD v4 |
| 5 | g.96416069A>T | CA360483076 | PCSK1 | c.673T>A (p.Cys225Ser) c.532T>A (p.Cys178Ser) n.354+36417A>T | |
| 5 | g.96416070T>A | CA360483079 | PCSK1 | c.672A>T (p.Lys224Asn) c.531A>T (p.Lys177Asn) n.354+36418T>A | |
| 5 | g.96416070T>C | CA445496606 | PCSK1 | c.672A>G (p.Lys224=) c.531A>G (p.Lys177=) n.354+36418T>C | |
| 5 | g.96416070T>G | CA360483081 | PCSK1 | c.672A>C (p.Lys224Asn) c.531A>C (p.Lys177Asn) n.354+36418T>G | |
| 5 | g.96416071T>A | CA360483083 | PCSK1 | c.671A>T (p.Lys224Ile) c.530A>T (p.Lys177Ile) n.354+36419T>A | |
| 5 | g.96416071T>C | CA360483085 | PCSK1 | c.671A>G (p.Lys224Arg) c.530A>G (p.Lys177Arg) n.354+36419T>C | |
| 5 | g.96416071T>G | CA360483087 | PCSK1 | c.671A>C (p.Lys224Thr) c.530A>C (p.Lys177Thr) n.354+36419T>G | |
| 5 | g.96416072T>A | CA360483090 | PCSK1 | c.670A>T (p.Lys224Ter) c.529A>T (p.Lys177Ter) n.354+36420T>A | gnomAD v4 |
| 5 | g.96416072T>C | CA360483092 | PCSK1 | c.670A>G (p.Lys224Glu) c.529A>G (p.Lys177Glu) n.354+36420T>C | |
| 5 | g.96416072T>G | CA360483089 | PCSK1 | c.670A>C (p.Lys224Gln) c.529A>C (p.Lys177Gln) n.354+36420T>G | |
| 5 | g.96416073G>A | CA445496620 | PCSK1 | c.669C>T (p.His223=) c.528C>T (p.His176=) n.354+36421G>A | |
| 5 | g.96416073G>C | CA360483094 | PCSK1 | c.669C>G (p.His223Gln) c.528C>G (p.His176Gln) n.354+36421G>C | |
| 5 | g.96416073G= | CA1565411993 | PCSK1 | c.669C= (p.His223=) c.528C= (p.His176=) n.354+36421G= | |
| 5 | g.96416073G>T | CA360483096 | PCSK1 | c.669C>A (p.His223Gln) c.528C>A (p.His176Gln) n.354+36421G>T | dbSNP |
| 5 | g.96416074T>A | CA360483098 | PCSK1 | c.668A>T (p.His223Leu) c.527A>T (p.His176Leu) n.354+36422T>A | |
| 5 | g.96416074T>C | CA360483099 | PCSK1 | c.668A>G (p.His223Arg) c.527A>G (p.His176Arg) n.354+36422T>C | |
| 5 | g.96416074T>G | CA360483101 | PCSK1 | c.668A>C (p.His223Pro) c.527A>C (p.His176Pro) n.354+36422T>G | |
| 5 | g.96416075G>A | CA360483106 | PCSK1 | c.667C>T (p.His223Tyr) c.526C>T (p.His176Tyr) n.354+36423G>A | gnomAD v4 |
| 5 | g.96416075G>C | CA122918740 | PCSK1 | c.667C>G (p.His223Asp) c.526C>G (p.His176Asp) n.354+36423G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96416075G= | CA1565411994 | PCSK1 | c.667C= (p.His223=) c.526C= (p.His176=) n.354+36423G= | |
| 5 | g.96416075G>T | CA360483104 | PCSK1 | c.667C>A (p.His223Asn) c.526C>A (p.His176Asn) n.354+36423G>T | |
| 5 | g.96416076A>C | CA360483109 | PCSK1 | c.666T>G (p.Asn222Lys) c.525T>G (p.Asn175Lys) n.354+36424A>C | |
| 5 | g.96416076A>G | CA445496638 | PCSK1 | c.666T>C (p.Asn222=) c.525T>C (p.Asn175=) n.354+36424A>G | |
| 5 | g.96416076A>T | CA360483111 | PCSK1 | c.666T>A (p.Asn222Lys) c.525T>A (p.Asn175Lys) n.354+36424A>T | |
| 5 | g.96416077T>A | CA360483113 | PCSK1 | c.665A>T (p.Asn222Ile) c.524A>T (p.Asn175Ile) n.354+36425T>A | |
| 5 | g.96416077T>C | CA360483116 | PCSK1 | c.665A>G (p.Asn222Ser) c.524A>G (p.Asn175Ser) n.354+36425T>C | |
| 5 | g.96416077T>G | CA360483118 | PCSK1 | c.665A>C (p.Asn222Thr) c.524A>C (p.Asn175Thr) n.354+36425T>G | |
| 5 | g.96416078T>A | CA360483124 | PCSK1 | c.664A>T (p.Asn222Tyr) c.523A>T (p.Asn175Tyr) n.354+36426T>A | |
| 5 | g.96416078T>C | CA360483123 | PCSK1 | c.664A>G (p.Asn222Asp) c.523A>G (p.Asn175Asp) n.354+36426T>C | |
| 5 | g.96416078T>G | CA360483121 | PCSK1 | c.664A>C (p.Asn222His) c.523A>C (p.Asn175His) n.354+36426T>G | |
| 5 | g.96416079A>C | CA360483127 | PCSK1 | c.663T>G (p.Asn221Lys) c.522T>G (p.Asn174Lys) n.354+36427A>C | |
| 5 | g.96416079A>G | CA445496653 | PCSK1 | c.663T>C (p.Asn221=) c.522T>C (p.Asn174=) n.354+36427A>G | |
| 5 | g.96416079A>T | CA360483129 | PCSK1 | c.663T>A (p.Asn221Lys) c.522T>A (p.Asn174Lys) n.354+36427A>T | |
| 5 | g.96416080T>A | CA360483131 | PCSK1 | c.662A>T (p.Asn221Ile) c.521A>T (p.Asn174Ile) n.354+36428T>A | |
| 5 | g.96416080T>C | CA360483133 | PCSK1 | c.662A>G (p.Asn221Ser) c.521A>G (p.Asn174Ser) n.354+36428T>C | |
| 5 | g.96416080T>G | CA360483135 | PCSK1 | c.662A>C (p.Asn221Thr) c.521A>C (p.Asn174Thr) n.354+36428T>G | |
| 5 | g.96416081T>A | CA360483136 | PCSK1 | c.661A>T (p.Asn221Tyr) c.520A>T (p.Asn174Tyr) n.354+36429T>A | |
| 5 | g.96416081T>C | CA128660 | PCSK1 | c.661A>G (p.Asn221Asp) c.520A>G (p.Asn174Asp) n.354+36429T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416081T>G | CA360483140 | PCSK1 | c.661A>C (p.Asn221His) c.520A>C (p.Asn174His) n.354+36429T>G | |
| 5 | g.96416081T= | CA1565411995 | PCSK1 | c.661A= (p.Asn221=) c.520A= (p.Asn174=) n.354+36429T= | |
| 5 | g.96416082T>A | CA445496674 | PCSK1 | c.660A>T (p.Ala220=) c.519A>T (p.Ala173=) n.354+36430T>A | |
| 5 | g.96416082T>C | CA445496676 | PCSK1 | c.660A>G (p.Ala220=) c.519A>G (p.Ala173=) n.354+36430T>C | gnomAD v4 |
| 5 | g.96416082T>G | CA445496679 | PCSK1 | c.660A>C (p.Ala220=) c.519A>C (p.Ala173=) n.354+36430T>G | |
| 5 | g.96416083G>A | CA360483143 | PCSK1 | c.659C>T (p.Ala220Val) c.518C>T (p.Ala173Val) n.354+36431G>A | |
| 5 | g.96416083G>C | CA360483145 | PCSK1 | c.659C>G (p.Ala220Gly) c.518C>G (p.Ala173Gly) n.354+36431G>C | |
| 5 | g.96416083G>T | CA360483147 | PCSK1 | c.659C>A (p.Ala220Glu) c.518C>A (p.Ala173Glu) n.354+36431G>T | |
| 5 | g.96416084C>A | CA360483150 | PCSK1 | c.658G>T (p.Ala220Ser) c.517G>T (p.Ala173Ser) n.354+36432C>A | |
| 5 | g.96416084C>G | CA360483151 | PCSK1 | c.658G>C (p.Ala220Pro) c.517G>C (p.Ala173Pro) n.354+36432C>G | |
| 5 | g.96416084C>T | CA360483153 | PCSK1 | c.658G>A (p.Ala220Thr) c.517G>A (p.Ala173Thr) n.354+36432C>T | |
| 5 | g.96416085T>A | CA360483158 | PCSK1 | c.657A>T (p.Gln219His) c.516A>T (p.Gln172His) n.354+36433T>A | |
| 5 | g.96416085T>C | CA445496696 | PCSK1 | c.657A>G (p.Gln219=) c.516A>G (p.Gln172=) n.354+36433T>C | |
| 5 | g.96416085T>G | CA360483155 | PCSK1 | c.657A>C (p.Gln219His) c.516A>C (p.Gln172His) n.354+36433T>G | |
| 5 | g.96416086T>A | CA360483160 | PCSK1 | c.656A>T (p.Gln219Leu) c.515A>T (p.Gln172Leu) n.354+36434T>A | |
| 5 | g.96416086T>C | CA360483163 | PCSK1 | c.656A>G (p.Gln219Arg) c.515A>G (p.Gln172Arg) n.354+36434T>C | |
| 5 | g.96416086T>G | CA360483164 | PCSK1 | c.656A>C (p.Gln219Pro) c.515A>C (p.Gln172Pro) n.354+36434T>G | |
| 5 | g.96416087G>A | CA360483167 | PCSK1 | c.655C>T (p.Gln219Ter) c.514C>T (p.Gln172Ter) n.354+36435G>A | |
| 5 | g.96416087G>C | CA360483168 | PCSK1 | c.655C>G (p.Gln219Glu) c.514C>G (p.Gln172Glu) n.354+36435G>C | |
| 5 | g.96416087G>T | CA360483171 | PCSK1 | c.655C>A (p.Gln219Lys) c.514C>A (p.Gln172Lys) n.354+36435G>T | |
| 5 | g.96416088C>A | CA360483173 | PCSK1 | c.654G>T (p.Met218Ile) c.513G>T (p.Met171Ile) n.354+36436C>A | |
| 5 | g.96416088C>G | CA360483175 | PCSK1 | c.654G>C (p.Met218Ile) c.513G>C (p.Met171Ile) n.354+36436C>G | |
| 5 | g.96416088C>T | CA360483177 | PCSK1 | c.654G>A (p.Met218Ile) c.513G>A (p.Met171Ile) n.354+36436C>T | |
| 5 | g.96416089A>C | CA360483179 | PCSK1 | c.653T>G (p.Met218Arg) c.512T>G (p.Met171Arg) n.354+36437A>C | |
| 5 | g.96416089A>G | CA360483181 | PCSK1 | c.653T>C (p.Met218Thr) c.512T>C (p.Met171Thr) n.354+36437A>G | |
| 5 | g.96416089A>T | CA360483183 | PCSK1 | c.653T>A (p.Met218Lys) c.512T>A (p.Met171Lys) n.354+36437A>T | |
| 5 | g.96416090T>A | CA360483190 | PCSK1 | c.652A>T (p.Met218Leu) c.511A>T (p.Met171Leu) n.354+36438T>A | |
| 5 | g.96416090T>C | CA360483187 | PCSK1 | c.652A>G (p.Met218Val) c.511A>G (p.Met171Val) n.354+36438T>C | |
| 5 | g.96416090T>G | CA360483186 | PCSK1 | c.652A>C (p.Met218Leu) c.511A>C (p.Met171Leu) n.354+36438T>G | |
| 5 | g.96416091G>A | CA445496721 | PCSK1 | c.651C>T (p.Ala217=) c.510C>T (p.Ala170=) n.354+36439G>A | |
| 5 | g.96416091G>C | CA445496724 | PCSK1 | c.651C>G (p.Ala217=) c.510C>G (p.Ala170=) n.354+36439G>C | |
| 5 | g.96416091G>T | CA445496726 | PCSK1 | c.651C>A (p.Ala217=) c.510C>A (p.Ala170=) n.354+36439G>T | gnomAD v4 |
| 5 | g.96416092G>A | CA3350406 | PCSK1 | c.650C>T (p.Ala217Val) c.509C>T (p.Ala170Val) n.354+36440G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416092G>C | CA360483193 | PCSK1 | c.650C>G (p.Ala217Gly) c.509C>G (p.Ala170Gly) n.354+36440G>C | |
| 5 | g.96416092G= | CA1565411996 | PCSK1 | c.650C= (p.Ala217=) c.509C= (p.Ala170=) n.354+36440G= | |
| 5 | g.96416092G>T | CA360483194 | PCSK1 | c.650C>A (p.Ala217Asp) c.509C>A (p.Ala170Asp) n.354+36440G>T | |
| 5 | g.96416093C>A | CA360483197 | PCSK1 | c.649G>T (p.Ala217Ser) c.508G>T (p.Ala170Ser) n.354+36441C>A | |
| 5 | g.96416093C= | CA1565411997 | PCSK1 | c.649G= (p.Ala217=) c.508G= (p.Ala170=) n.354+36441C= | |
| 5 | g.96416093C>G | CA360483198 | PCSK1 | c.649G>C (p.Ala217Pro) c.508G>C (p.Ala170Pro) n.354+36441C>G | |
| 5 | g.96416093C>T | CA122918754 | PCSK1 | c.649G>A (p.Ala217Thr) c.508G>A (p.Ala170Thr) n.354+36441C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96416094A>C | CA360483201 | PCSK1 | c.648T>G (p.Ile216Met) c.507T>G (p.Ile169Met) n.354+36442A>C | |
| 5 | g.96416094A>G | CA445496747 | PCSK1 | c.648T>C (p.Ile216=) c.507T>C (p.Ile169=) n.354+36442A>G | |
| 5 | g.96416094A>T | CA445496743 | PCSK1 | c.648T>A (p.Ile216=) c.507T>A (p.Ile169=) n.354+36442A>T | |
| 5 | g.96416095A= | CA1565411998 | PCSK1 | c.647T= (p.Ile216=) c.506T= (p.Ile169=) n.354+36443A= | |
| 5 | g.96416095A>C | CA360483204 | PCSK1 | c.647T>G (p.Ile216Ser) c.506T>G (p.Ile169Ser) n.354+36443A>C | |
| 5 | g.96416095A>G | CA3350407 | PCSK1 | c.647T>C (p.Ile216Thr) c.506T>C (p.Ile169Thr) n.354+36443A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96416095A>T | CA360483207 | PCSK1 | c.647T>A (p.Ile216Asn) c.506T>A (p.Ile169Asn) n.354+36443A>T | |
| 5 | g.96416096T>A | CA360483209 | PCSK1 | c.646A>T (p.Ile216Phe) c.505A>T (p.Ile169Phe) n.354+36444T>A | |
| 5 | g.96416096T>C | CA360483211 | PCSK1 | c.646A>G (p.Ile216Val) c.505A>G (p.Ile169Val) n.354+36444T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96416096T>G | CA360483213 | PCSK1 | c.646A>C (p.Ile216Leu) c.505A>C (p.Ile169Leu) n.354+36444T>G | |
| 5 | g.96416096T= | CA1565411999 | PCSK1 | c.646A= (p.Ile216=) c.505A= (p.Ile169=) n.354+36444T= | |
| 5 | g.96416096_96416097insAGATATGGA | CA2540018407 | PCSK1 | c.645_646insTCCATATCT (p.Glu215_Ile216insSerIleSer) c.504_505insTCCATATCT (p.Glu168_Ile169insSerIleSer) n.354+36444_354+36445insAGATATGGA | |
| 5 | g.96416097T>A | CA360483216 | PCSK1 | c.645A>T (p.Glu215Asp) c.504A>T (p.Glu168Asp) n.354+36445T>A | dbSNP gnomAD v4 |
| 5 | g.96416097T>C | CA445496760 | PCSK1 | c.645A>G (p.Glu215=) c.504A>G (p.Glu168=) n.354+36445T>C | |
| 5 | g.96416097T>G | CA360483215 | PCSK1 | c.645A>C (p.Glu215Asp) c.504A>C (p.Glu168Asp) n.354+36445T>G | |
| 5 | g.96416097T= | CA1565412000 | PCSK1 | c.645A= (p.Glu215=) c.504A= (p.Glu168=) n.354+36445T= | |
| 5 | g.96416098T>A | CA360483218 | PCSK1 | c.644A>T (p.Glu215Val) c.503A>T (p.Glu168Val) n.354+36446T>A | |
| 5 | g.96416098T>C | CA360483221 | PCSK1 | c.644A>G (p.Glu215Gly) c.503A>G (p.Glu168Gly) n.354+36446T>C | |
| 5 | g.96416098T>G | CA360483223 | PCSK1 | c.644A>C (p.Glu215Ala) c.503A>C (p.Glu168Ala) n.354+36446T>G | |
| 5 | g.96416099C>A | CA360483225 | PCSK1 | c.643G>T (p.Glu215Ter) c.502G>T (p.Glu168Ter) n.354+36447C>A | COSMIC |
| 5 | g.96416099C>G | CA360483227 | PCSK1 | c.643G>C (p.Glu215Gln) c.502G>C (p.Glu168Gln) n.354+36447C>G | |
| 5 | g.96416099C>T | CA360483229 | PCSK1 | c.643G>A (p.Glu215Lys) c.502G>A (p.Glu168Lys) n.354+36447C>T | |
| 5 | g.96416100T>A | CA445496761 | PCSK1 | c.642A>T (p.Gly214=) c.501A>T (p.Gly167=) n.354+36448T>A | |
| 5 | g.96416100T>C | CA445496762 | PCSK1 | c.642A>G (p.Gly214=) c.501A>G (p.Gly167=) n.354+36448T>C | |
| 5 | g.96416100T>G | CA445496763 | PCSK1 | c.642A>C (p.Gly214=) c.501A>C (p.Gly167=) n.354+36448T>G | |
| 5 | g.96416101C>A | CA360483230 | PCSK1 | c.641G>T (p.Gly214Val) c.500G>T (p.Gly167Val) n.354+36449C>A | |
| 5 | g.96416101C>G | CA360483231 | PCSK1 | c.641G>C (p.Gly214Ala) c.500G>C (p.Gly167Ala) n.354+36449C>G | COSMIC |
| 5 | g.96416101C>T | CA360483233 | PCSK1 | c.641G>A (p.Gly214Glu) c.500G>A (p.Gly167Glu) n.354+36449C>T | gnomAD v4 |
| 5 | g.96416101_96416104delinsCCTG | CA1565412001 | PCSK1 | c.638_641delinsCAGG (p.Ala213=) c.497_500delinsCAGG (p.Ala166=) n.354+36449_354+36452delinsCCTG | |
| 5 | g.96416102C>A | CA360483236 | PCSK1 | c.640G>T (p.Gly214Ter) c.499G>T (p.Gly167Ter) n.354+36450C>A | |
| 5 | g.96416102C>G | CA360483238 | PCSK1 | c.640G>C (p.Gly214Arg) c.499G>C (p.Gly167Arg) n.354+36450C>G | |
| 5 | g.96416102C>T | CA360483240 | PCSK1 | c.640G>A (p.Gly214Arg) c.499G>A (p.Gly167Arg) n.354+36450C>T | |
| 5 | g.96416103_96416105del | CA123727 | PCSK1 | c.638_640del (p.Ala213del) c.497_499del (p.Ala166del) n.354+36451_354+36453del | ClinVar dbSNP |
| 5 | g.96416103T>A | CA445496764 | PCSK1 | c.639A>T (p.Ala213=) c.498A>T (p.Ala166=) n.354+36451T>A | |
| 5 | g.96416103T>C | CA445496765 | PCSK1 | c.639A>G (p.Ala213=) c.498A>G (p.Ala166=) n.354+36451T>C | |
| 5 | g.96416103T>G | CA445496766 | PCSK1 | c.639A>C (p.Ala213=) c.498A>C (p.Ala166=) n.354+36451T>G | |
| 5 | g.96416104G>A | CA3350408 | PCSK1 | c.638C>T (p.Ala213Val) c.497C>T (p.Ala166Val) n.354+36452G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96416104G>C | CA360483248 | PCSK1 | c.638C>G (p.Ala213Gly) c.497C>G (p.Ala166Gly) n.354+36452G>C | |
| 5 | g.96416104G= | CA1565412002 | PCSK1 | c.638C= (p.Ala213=) c.497C= (p.Ala166=) n.354+36452G= | |
| 5 | g.96416104G>T | CA360483244 | PCSK1 | c.638C>A (p.Ala213Glu) c.497C>A (p.Ala166Glu) n.354+36452G>T | gnomAD v4 |
| 5 | g.96416105C>A | CA360483253 | PCSK1 | c.637G>T (p.Ala213Ser) c.496G>T (p.Ala166Ser) n.354+36453C>A | gnomAD v4 |
| 5 | g.96416105C>G | CA360483250 | PCSK1 | c.637G>C (p.Ala213Pro) c.496G>C (p.Ala166Pro) n.354+36453C>G | |
| 5 | g.96416105C>T | CA360483255 | PCSK1 | c.637G>A (p.Ala213Thr) c.496G>A (p.Ala166Thr) n.354+36453C>T | gnomAD v4 |
| 5 | g.96416106A>C | CA360483257 | PCSK1 | c.636T>G (p.Cys212Trp) c.495T>G (p.Cys165Trp) n.354+36454A>C | |
| 5 | g.96416106A>G | CA445496768 | PCSK1 | c.636T>C (p.Cys212=) c.495T>C (p.Cys165=) n.354+36454A>G | |
| 5 | g.96416106A>T | CA360483258 | PCSK1 | c.636T>A (p.Cys212Ter) c.495T>A (p.Cys165Ter) n.354+36454A>T | |
| 5 | g.96416107C>A | CA360483259 | PCSK1 | c.635G>T (p.Cys212Phe) c.494G>T (p.Cys165Phe) n.354+36455C>A | |
| 5 | g.96416107C>G | CA360483260 | PCSK1 | c.635G>C (p.Cys212Ser) c.494G>C (p.Cys165Ser) n.354+36455C>G | |
| 5 | g.96416107C>T | CA360483263 | PCSK1 | c.635G>A (p.Cys212Tyr) c.494G>A (p.Cys165Tyr) n.354+36455C>T | gnomAD v4 |
| 5 | g.96416108A= | CA1565412003 | PCSK1 | c.634T= (p.Cys212=) c.493T= (p.Cys165=) n.354+36456A= | |
| 5 | g.96416108A>C | CA360483266 | PCSK1 | c.634T>G (p.Cys212Gly) c.493T>G (p.Cys165Gly) n.354+36456A>C | |
| 5 | g.96416108A>G | CA360483268 | PCSK1 | c.634T>C (p.Cys212Arg) c.493T>C (p.Cys165Arg) n.354+36456A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96416108A>T | CA360483270 | PCSK1 | c.634T>A (p.Cys212Ser) c.493T>A (p.Cys165Ser) n.354+36456A>T | |
| 5 | g.96416109T>A | CA360483272 | PCSK1 | c.633A>T (p.Arg211Ser) c.492A>T (p.Arg164Ser) n.354+36457T>A | |
| 5 | g.96416109T>C | CA445496769 | PCSK1 | c.633A>G (p.Arg211=) c.492A>G (p.Arg164=) n.354+36457T>C | |
| 5 | g.96416109T>G | CA360483274 | PCSK1 | c.633A>C (p.Arg211Ser) c.492A>C (p.Arg164Ser) n.354+36457T>G | |
| 5 | g.96416110C>A | CA360483276 | PCSK1 | c.632G>T (p.Arg211Ile) c.491G>T (p.Arg164Ile) n.354+36458C>A | |
| 5 | g.96416110C>G | CA360483278 | PCSK1 | c.632G>C (p.Arg211Thr) c.491G>C (p.Arg164Thr) n.354+36458C>G | |
| 5 | g.96416110C>T | CA360483280 | PCSK1 | c.632G>A (p.Arg211Lys) c.491G>A (p.Arg164Lys) n.354+36458C>T | |
| 5 | g.96416111T>A | CA360483282 | PCSK1 | c.631A>T (p.Arg211Ter) c.490A>T (p.Arg164Ter) n.354+36459T>A | |
| 5 | g.96416111T>C | CA360483284 | PCSK1 | c.631A>G (p.Arg211Gly) c.490A>G (p.Arg164Gly) n.354+36459T>C | gnomAD v4 |
| 5 | g.96416111T>G | CA445496770 | PCSK1 | c.631A>C (p.Arg211=) c.490A>C (p.Arg164=) n.354+36459T>G | |
| 5 | g.96416112G>A | CA445496771 | PCSK1 | c.630C>T (p.Thr210=) c.489C>T (p.Thr163=) n.354+36460G>A | |
| 5 | g.96416112G>C | CA445496772 | PCSK1 | c.630C>G (p.Thr210=) c.489C>G (p.Thr163=) n.354+36460G>C | |
| 5 | g.96416112G>T | CA445496773 | PCSK1 | c.630C>A (p.Thr210=) c.489C>A (p.Thr163=) n.354+36460G>T | gnomAD v4 |
| 5 | g.96416113G>A | CA360483286 | PCSK1 | c.629C>T (p.Thr210Ile) c.488C>T (p.Thr163Ile) n.354+36461G>A | |
| 5 | g.96416113G>C | CA360483291 | PCSK1 | c.629C>G (p.Thr210Ser) c.488C>G (p.Thr163Ser) n.354+36461G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416113G= | CA1565412004 | PCSK1 | c.629C= (p.Thr210=) c.488C= (p.Thr163=) n.354+36461G= | |
| 5 | g.96416113G>T | CA360483289 | PCSK1 | c.629C>A (p.Thr210Asn) c.488C>A (p.Thr163Asn) n.354+36461G>T | gnomAD v4 |
| 5 | g.96416114T>A | CA360483294 | PCSK1 | c.628A>T (p.Thr210Ser) c.487A>T (p.Thr163Ser) n.354+36462T>A | |
| 5 | g.96416114T>C | CA360483295 | PCSK1 | c.628A>G (p.Thr210Ala) c.487A>G (p.Thr163Ala) n.354+36462T>C | |
| 5 | g.96416114T>G | CA360483297 | PCSK1 | c.628A>C (p.Thr210Pro) c.487A>C (p.Thr163Pro) n.354+36462T>G | |
| 5 | g.96416115C>A | CA122918781 | PCSK1 | c.627G>T (p.Gly209=) c.486G>T (p.Gly162=) n.354+36463C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96416115C= | CA1565412005 | PCSK1 | c.627G= (p.Gly209=) c.486G= (p.Gly162=) n.354+36463C= | |
| 5 | g.96416115C>G | CA445496775 | PCSK1 | c.627G>C (p.Gly209=) c.486G>C (p.Gly162=) n.354+36463C>G | |
| 5 | g.96416115C>T | CA445496774 | PCSK1 | c.627G>A (p.Gly209=) c.486G>A (p.Gly162=) n.354+36463C>T | |
| 5 | g.96416116C>A | CA360483299 | PCSK1 | c.626G>T (p.Gly209Val) c.485G>T (p.Gly162Val) n.354+36464C>A | |
| 5 | g.96416116C>G | CA360483302 | PCSK1 | c.626G>C (p.Gly209Ala) c.485G>C (p.Gly162Ala) n.354+36464C>G | |
| 5 | g.96416116C>T | CA360483304 | PCSK1 | c.626G>A (p.Gly209Glu) c.485G>A (p.Gly162Glu) n.354+36464C>T | |
| 5 | g.96416117C>A | CA360483305 | PCSK1 | c.625G>T (p.Gly209Trp) c.484G>T (p.Gly162Trp) n.354+36465C>A | |
| 5 | g.96416117C= | CA1565412006 | PCSK1 | c.625G= (p.Gly209=) c.484G= (p.Gly162=) n.354+36465C= | |
| 5 | g.96416117C>G | CA360483306 | PCSK1 | c.625G>C (p.Gly209Arg) c.484G>C (p.Gly162Arg) n.354+36465C>G | |
| 5 | g.96416117C>T | CA3350409 | PCSK1 | c.625G>A (p.Gly209Arg) c.484G>A (p.Gly162Arg) n.354+36465C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416118G>A | CA3350410 | PCSK1 | c.624C>T (p.His208=) c.483C>T (p.His161=) n.354+36466G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416118G>C | CA360483307 | PCSK1 | c.624C>G (p.His208Gln) c.483C>G (p.His161Gln) n.354+36466G>C | |
| 5 | g.96416118G= | CA1565412007 | PCSK1 | c.624C= (p.His208=) c.483C= (p.His161=) n.354+36466G= | |
| 5 | g.96416118G>T | CA360483308 | PCSK1 | c.624C>A (p.His208Gln) c.483C>A (p.His161Gln) n.354+36466G>T | |
| 5 | g.96416119T>A | CA360483309 | PCSK1 | c.623A>T (p.His208Leu) c.482A>T (p.His161Leu) n.354+36467T>A | |
| 5 | g.96416119T>C | CA360483311 | PCSK1 | c.623A>G (p.His208Arg) c.482A>G (p.His161Arg) n.354+36467T>C | |
| 5 | g.96416119T>G | CA360483310 | PCSK1 | c.623A>C (p.His208Pro) c.482A>C (p.His161Pro) n.354+36467T>G | |
| 5 | g.96416120G>A | CA360483312 | PCSK1 | c.622C>T (p.His208Tyr) c.481C>T (p.His161Tyr) n.354+36468G>A | |
| 5 | g.96416120G>C | CA360483313 | PCSK1 | c.622C>G (p.His208Asp) c.481C>G (p.His161Asp) n.354+36468G>C | |
| 5 | g.96416120G>T | CA360483314 | PCSK1 | c.622C>A (p.His208Asn) c.481C>A (p.His161Asn) n.354+36468G>T | gnomAD v4 |
| 5 | g.96416121T>A | CA360483315 | PCSK1 | c.621A>T (p.Lys207Asn) c.480A>T (p.Lys160Asn) n.354+36469T>A | |
| 5 | g.96416121T>C | CA445496776 | PCSK1 | c.621A>G (p.Lys207=) c.480A>G (p.Lys160=) n.354+36469T>C | |
| 5 | g.96416121T>G | CA360483316 | PCSK1 | c.621A>C (p.Lys207Asn) c.480A>C (p.Lys160Asn) n.354+36469T>G | |
| 5 | g.96416122C>A | CA360483317 | PCSK1 | c.621-1G>T (n.621-1G>T) c.480-1G>T (n.480-1G>T) n.354+36470C>A | |
| 5 | g.96416122C>G | CA360483318 | PCSK1 | c.621-1G>C (n.621-1G>C) c.480-1G>C (n.480-1G>C) n.354+36470C>G | |
| 5 | g.96416122C>T | CA360483319 | PCSK1 | c.621-1G>A (n.621-1G>A) c.480-1G>A (n.480-1G>A) n.354+36470C>T | gnomAD v4 |
| 5 | g.96416123T>A | CA360483320 | PCSK1 | c.621-2A>T (n.621-2A>T) c.480-2A>T (n.480-2A>T) n.354+36471T>A | |
| 5 | g.96416123T>C | CA360483321 | PCSK1 | c.621-2A>G (n.621-2A>G) c.480-2A>G (n.480-2A>G) n.354+36471T>C | gnomAD v4 |
| 5 | g.96416123T>G | CA360483322 | PCSK1 | c.621-2A>C (n.621-2A>C) c.480-2A>C (n.480-2A>C) n.354+36471T>G | |
| 5 | g.96416124G>C | CA1565412009 | PCSK1 | c.621-3C>G (n.621-3C>G) c.480-3C>G (n.480-3C>G) n.354+36472G>C | dbSNP |
| 5 | g.96416124G= | CA1565412008 | PCSK1 | c.621-3C= (n.621-3C=) c.480-3C= (n.480-3C=) n.354+36472G= | |
| 5 | g.96416124G>T | CA2674666408 | PCSK1 | c.621-3C>A (n.621-3C>A) c.480-3C>A (n.480-3C>A) n.354+36472G>T | gnomAD v4 |
| 5 | g.96416125_96416126delinsAG | CA1565412010 | PCSK1 | c.621-5_621-4delinsCT (n.621-5_621-4delinsCT) c.480-5_480-4delinsCT (n.480-5_480-4delinsCT) n.354+36473_354+36474delinsAG | |
| 5 | g.96416127del | CA917533384 | PCSK1 | c.621-5del (n.621-5del) c.480-5del (n.480-5del) n.354+36475del | dbSNP gnomAD v4 |
| 5 | g.96416127G>A | CA1565412012 | PCSK1 | c.621-6C>T (n.621-6C>T) c.480-6C>T (n.480-6C>T) n.354+36475G>A | dbSNP gnomAD v4 |
| 5 | g.96416127G= | CA1565412011 | PCSK1 | c.621-6C= (n.621-6C=) c.480-6C= (n.480-6C=) n.354+36475G= | |
| 5 | g.96416127G>T | CA2578366208 | PCSK1 | c.621-6C>A (n.621-6C>A) c.480-6C>A (n.480-6C>A) n.354+36475G>T | gnomAD v4 |
| 5 | g.96416131G>T | CA2674666409 | PCSK1 | c.621-10C>A (n.621-10C>A) c.480-10C>A (n.480-10C>A) n.354+36479G>T | gnomAD v4 |
| 5 | g.96416136del | CA2674666410 | PCSK1 | c.621-11del (n.621-11del) c.480-11del (n.480-11del) n.354+36484del | gnomAD v4 |
| 5 | g.96416133A>G | CA2674666411 | PCSK1 | c.621-12T>C (n.621-12T>C) c.480-12T>C (n.480-12T>C) n.354+36481A>G | gnomAD v4 |
| 5 | g.96416136A>G | CA2674666412 | PCSK1 | c.621-15T>C (n.621-15T>C) c.480-15T>C (n.480-15T>C) n.354+36484A>G | gnomAD v4 |
| 5 | g.96416136A>T | CA2767554318 | PCSK1 | c.621-15T>A (n.621-15T>A) c.480-15T>A (n.480-15T>A) n.354+36484A>T | |
| 5 | g.96416138A= | CA1565412013 | PCSK1 | c.621-17T= (n.621-17T=) c.480-17T= (n.480-17T=) n.354+36486A= | |
| 5 | g.96416138A>C | CA561283496 | PCSK1 | c.621-17T>G (n.621-17T>G) c.480-17T>G (n.480-17T>G) n.354+36486A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416138A>G | CA2674666413 | PCSK1 | c.621-17T>C (n.621-17T>C) c.480-17T>C (n.480-17T>C) n.354+36486A>G | gnomAD v4 |
| 5 | g.96416139A= | CA1565412014 | PCSK1 | c.621-18T= (n.621-18T=) c.480-18T= (n.480-18T=) n.354+36487A= | |
| 5 | g.96416139A>T | CA3350411 | PCSK1 | c.621-18T>A (n.621-18T>A) c.480-18T>A (n.480-18T>A) n.354+36487A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96416140G>T | CA2674666414 | PCSK1 | c.621-19C>A (n.621-19C>A) c.480-19C>A (n.480-19C>A) n.354+36488G>T | gnomAD v4 |
| 5 | g.96416142A= | CA1565412015 | PCSK1 | c.621-21T= (n.621-21T=) c.480-21T= (n.480-21T=) n.354+36490A= | |
| 5 | g.96416142A>C | CA815887596 | PCSK1 | c.621-21T>G (n.621-21T>G) c.480-21T>G (n.480-21T>G) n.354+36490A>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96416142A>T | CA1079022027 | PCSK1 | c.621-21T>A (n.621-21T>A) c.480-21T>A (n.480-21T>A) n.354+36490A>T | dbSNP gnomAD v3 gnomAD v4 |