| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.96429205_96429207del | CA561285011 | PCSK1 | c.285+9_285+11del (n.285+9_285+11del) c.144+9_144+11del (n.144+9_144+11del) n.354+49553_354+49555del | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429207A>C | CA2674667193 | PCSK1 | c.285+6T>G (n.285+6T>G) c.144+6T>G (n.144+6T>G) n.354+49555A>C | gnomAD v4 |
| 5 | g.96429207A>G | CA2674667194 | PCSK1 | c.285+6T>C (n.285+6T>C) c.144+6T>C (n.144+6T>C) n.354+49555A>G | gnomAD v4 |
| 5 | g.96429207A>T | CA2767554364 | PCSK1 | c.285+6T>A (n.285+6T>A) c.144+6T>A (n.144+6T>A) n.354+49555A>T | |
| 5 | g.96429208C>T | CA2674667195 | PCSK1 | c.285+5G>A (n.285+5G>A) c.144+5G>A (n.144+5G>A) n.354+49556C>T | gnomAD v4 |
| 5 | g.96429209T>C | CA2578366381 | PCSK1 | c.285+4A>G (n.285+4A>G) c.144+4A>G (n.144+4A>G) n.354+49557T>C | gnomAD v4 |
| 5 | g.96429210del | CA2674667196 | PCSK1 | c.285+4del (n.285+4del) c.144+4del (n.144+4del) n.354+49558del | gnomAD v4 |
| 5 | g.96429210T>C | CA2674667197 | PCSK1 | c.285+3A>G (n.285+3A>G) c.144+3A>G (n.144+3A>G) n.354+49558T>C | dbSNP gnomAD v4 |
| 5 | g.96429211A>C | CA360485059 | PCSK1 | c.285+2T>G (n.285+2T>G) c.144+2T>G (n.144+2T>G) n.354+49559A>C | |
| 5 | g.96429211A>G | CA360485060 | PCSK1 | c.285+2T>C (n.285+2T>C) c.144+2T>C (n.144+2T>C) n.354+49559A>G | gnomAD v4 |
| 5 | g.96429211A>T | CA360485061 | PCSK1 | c.285+2T>A (n.285+2T>A) c.144+2T>A (n.144+2T>A) n.354+49559A>T | gnomAD v4 |
| 5 | g.96429212C>A | CA360485062 | PCSK1 | c.285+1G>T (n.285+1G>T) c.144+1G>T (n.144+1G>T) n.354+49560C>A | |
| 5 | g.96429212C= | CA1565418066 | PCSK1 | c.285+1G= (n.285+1G=) c.144+1G= (n.144+1G=) n.354+49560C= | |
| 5 | g.96429212C>G | CA360485063 | PCSK1 | c.285+1G>C (n.285+1G>C) c.144+1G>C (n.144+1G>C) n.354+49560C>G | |
| 5 | g.96429212C>T | CA360485064 | PCSK1 | c.285+1G>A (n.285+1G>A) c.144+1G>A (n.144+1G>A) n.354+49560C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429213A>C | CA445498856 | PCSK1 | c.285T>G (p.Arg95=) c.144T>G (p.Arg48=) n.354+49561A>C | |
| 5 | g.96429213A>G | CA445498855 | PCSK1 | c.285T>C (p.Arg95=) c.144T>C (p.Arg48=) n.354+49561A>G | gnomAD v4 |
| 5 | g.96429213A>T | CA445498854 | PCSK1 | c.285T>A (p.Arg95=) c.144T>A (p.Arg48=) n.354+49561A>T | |
| 5 | g.96429214C>A | CA360485065 | PCSK1 | c.284G>T (p.Arg95Leu) c.143G>T (p.Arg48Leu) n.354+49562C>A | |
| 5 | g.96429214C= | CA1565418067 | PCSK1 | c.284G= (p.Arg95=) c.143G= (p.Arg48=) n.354+49562C= | |
| 5 | g.96429214C>G | CA360485066 | PCSK1 | c.284G>C (p.Arg95Pro) c.143G>C (p.Arg48Pro) n.354+49562C>G | |
| 5 | g.96429214C>T | CA3350543 | PCSK1 | c.284G>A (p.Arg95His) c.143G>A (p.Arg48His) n.354+49562C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429215G>A | CA360485067 | PCSK1 | c.283C>T (p.Arg95Cys) c.142C>T (p.Arg48Cys) n.354+49563G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96429215G>C | CA360485068 | PCSK1 | c.283C>G (p.Arg95Gly) c.142C>G (p.Arg48Gly) n.354+49563G>C | |
| 5 | g.96429215G= | CA1565418068 | PCSK1 | c.283C= (p.Arg95=) c.142C= (p.Arg48=) n.354+49563G= | |
| 5 | g.96429215G>T | CA360485069 | PCSK1 | c.283C>A (p.Arg95Ser) c.142C>A (p.Arg48Ser) n.354+49563G>T | gnomAD v4 |
| 5 | g.96429216A= | CA1565418069 | PCSK1 | c.282T= (p.Asp94=) c.141T= (p.Asp47=) n.354+49564A= | |
| 5 | g.96429216A>C | CA360485071 | PCSK1 | c.282T>G (p.Asp94Glu) c.141T>G (p.Asp47Glu) n.354+49564A>C | |
| 5 | g.96429216A>G | CA3350544 | PCSK1 | c.282T>C (p.Asp94=) c.141T>C (p.Asp47=) n.354+49564A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429216A>T | CA360485070 | PCSK1 | c.282T>A (p.Asp94Glu) c.141T>A (p.Asp47Glu) n.354+49564A>T | gnomAD v4 |
| 5 | g.96429223_96429225dup | CA2674667198 | PCSK1 | c.280_282dup (p.Asp94_Arg95insAsp) c.139_141dup (p.Asp47_Arg48insAsp) n.354+49571_354+49573dup | gnomAD v4 |
| 5 | g.96429223_96429225del | CA2674667199 | PCSK1 | c.280_282del (p.Asp94del) c.139_141del (p.Asp47del) n.354+49571_354+49573del | gnomAD v4 |
| 5 | g.96429217T>A | CA360485073 | PCSK1 | c.281A>T (p.Asp94Val) c.140A>T (p.Asp47Val) n.354+49565T>A | |
| 5 | g.96429217T>C | CA360485074 | PCSK1 | c.281A>G (p.Asp94Gly) c.140A>G (p.Asp47Gly) n.354+49565T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429217T>G | CA360485075 | PCSK1 | c.281A>C (p.Asp94Ala) c.140A>C (p.Asp47Ala) n.354+49565T>G | |
| 5 | g.96429217T= | CA1565418070 | PCSK1 | c.281A= (p.Asp94=) c.140A= (p.Asp47=) n.354+49565T= | |
| 5 | g.96429218C>A | CA360485076 | PCSK1 | c.280G>T (p.Asp94Tyr) c.139G>T (p.Asp47Tyr) n.354+49566C>A | gnomAD v4 |
| 5 | g.96429218C= | CA1565418071 | PCSK1 | c.280G= (p.Asp94=) c.139G= (p.Asp47=) n.354+49566C= | |
| 5 | g.96429218C>G | CA360485077 | PCSK1 | c.280G>C (p.Asp94His) c.139G>C (p.Asp47His) n.354+49566C>G | gnomAD v4 |
| 5 | g.96429218C>T | CA360485078 | PCSK1 | c.280G>A (p.Asp94Asn) c.139G>A (p.Asp47Asn) n.354+49566C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.96429219A= | CA1565418072 | PCSK1 | c.279T= (p.Asp93=) c.138T= (p.Asp46=) n.354+49567A= | |
| 5 | g.96429219A>C | CA3350545 | PCSK1 | c.279T>G (p.Asp93Glu) c.138T>G (p.Asp46Glu) n.354+49567A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96429219A>G | CA445498857 | PCSK1 | c.279T>C (p.Asp93=) c.138T>C (p.Asp46=) n.354+49567A>G | dbSNP gnomAD v4 |
| 5 | g.96429219A>T | CA360485079 | PCSK1 | c.279T>A (p.Asp93Glu) c.138T>A (p.Asp46Glu) n.354+49567A>T | |
| 5 | g.96429220T>A | CA360485080 | PCSK1 | c.278A>T (p.Asp93Val) c.137A>T (p.Asp46Val) n.354+49568T>A | |
| 5 | g.96429220T>C | CA360485081 | PCSK1 | c.278A>G (p.Asp93Gly) c.137A>G (p.Asp46Gly) n.354+49568T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429220T>G | CA360485082 | PCSK1 | c.278A>C (p.Asp93Ala) c.137A>C (p.Asp46Ala) n.354+49568T>G | |
| 5 | g.96429220T= | CA1565418073 | PCSK1 | c.278A= (p.Asp93=) c.137A= (p.Asp46=) n.354+49568T= | |
| 5 | g.96429221C>A | CA360485083 | PCSK1 | c.277G>T (p.Asp93Tyr) c.136G>T (p.Asp46Tyr) n.354+49569C>A | |
| 5 | g.96429221C>G | CA360485084 | PCSK1 | c.277G>C (p.Asp93His) c.136G>C (p.Asp46His) n.354+49569C>G | |
| 5 | g.96429221C>T | CA360485085 | PCSK1 | c.277G>A (p.Asp93Asn) c.136G>A (p.Asp46Asn) n.354+49569C>T | gnomAD v4 |
| 5 | g.96429222A= | CA1565418074 | PCSK1 | c.276T= (p.Asp92=) c.135T= (p.Asp45=) n.354+49570A= | |
| 5 | g.96429222A>C | CA360485086 | PCSK1 | c.276T>G (p.Asp92Glu) c.135T>G (p.Asp45Glu) n.354+49570A>C | |
| 5 | g.96429222A>G | CA445498858 | PCSK1 | c.276T>C (p.Asp92=) c.135T>C (p.Asp45=) n.354+49570A>G | dbSNP gnomAD v4 |
| 5 | g.96429222A>T | CA360485087 | PCSK1 | c.276T>A (p.Asp92Glu) c.135T>A (p.Asp45Glu) n.354+49570A>T | |
| 5 | g.96429223T>A | CA360485088 | PCSK1 | c.275A>T (p.Asp92Val) c.134A>T (p.Asp45Val) n.354+49571T>A | |
| 5 | g.96429223T>C | CA360485089 | PCSK1 | c.275A>G (p.Asp92Gly) c.134A>G (p.Asp45Gly) n.354+49571T>C | gnomAD v4 |
| 5 | g.96429223T>G | CA360485090 | PCSK1 | c.275A>C (p.Asp92Ala) c.134A>C (p.Asp45Ala) n.354+49571T>G | |
| 5 | g.96429224del | CA2578366382 | PCSK1 | c.274del (p.Asp92MetfsTer5) c.133del (p.Asp45MetfsTer5) n.354+49572del | |
| 5 | g.96429224C>A | CA360485091 | PCSK1 | c.274G>T (p.Asp92Tyr) c.133G>T (p.Asp45Tyr) n.354+49572C>A | |
| 5 | g.96429224C>G | CA360485093 | PCSK1 | c.274G>C (p.Asp92His) c.133G>C (p.Asp45His) n.354+49572C>G | |
| 5 | g.96429224C>T | CA360485095 | PCSK1 | c.274G>A (p.Asp92Asn) c.133G>A (p.Asp45Asn) n.354+49572C>T | gnomAD v4 |
| 5 | g.96429225A= | CA1565418075 | PCSK1 | c.273T= (p.Ser91=) c.132T= (p.Ser44=) n.354+49573A= | |
| 5 | g.96429225A>C | CA445498859 | PCSK1 | c.273T>G (p.Ser91=) c.132T>G (p.Ser44=) n.354+49573A>C | |
| 5 | g.96429225A>G | CA445498860 | PCSK1 | c.273T>C (p.Ser91=) c.132T>C (p.Ser44=) n.354+49573A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429225A>T | CA445498861 | PCSK1 | c.273T>A (p.Ser91=) c.132T>A (p.Ser44=) n.354+49573A>T | |
| 5 | g.96429226G>A | CA360485101 | PCSK1 | c.272C>T (p.Ser91Phe) c.131C>T (p.Ser44Phe) n.354+49574G>A | gnomAD v4 |
| 5 | g.96429226G>C | CA360485099 | PCSK1 | c.272C>G (p.Ser91Cys) c.131C>G (p.Ser44Cys) n.354+49574G>C | |
| 5 | g.96429226G>T | CA360485097 | PCSK1 | c.272C>A (p.Ser91Tyr) c.131C>A (p.Ser44Tyr) n.354+49574G>T | gnomAD v4 |
| 5 | g.96429227A= | CA1565418076 | PCSK1 | c.271T= (p.Ser91=) c.130T= (p.Ser44=) n.354+49575A= | |
| 5 | g.96429227A>C | CA360485103 | PCSK1 | c.271T>G (p.Ser91Ala) c.130T>G (p.Ser44Ala) n.354+49575A>C | |
| 5 | g.96429227A>G | CA360485105 | PCSK1 | c.271T>C (p.Ser91Pro) c.130T>C (p.Ser44Pro) n.354+49575A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429227A>T | CA360485106 | PCSK1 | c.271T>A (p.Ser91Thr) c.130T>A (p.Ser44Thr) n.354+49575A>T | |
| 5 | g.96429228T>A | CA360485107 | PCSK1 | c.270A>T (p.Leu90Phe) c.129A>T (p.Leu43Phe) n.354+49576T>A | gnomAD v4 |
| 5 | g.96429228T>C | CA3350546 | PCSK1 | c.270A>G (p.Leu90=) c.129A>G (p.Leu43=) n.354+49576T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429228T>G | CA360485110 | PCSK1 | c.270A>C (p.Leu90Phe) c.129A>C (p.Leu43Phe) n.354+49576T>G | |
| 5 | g.96429228T= | CA1565418077 | PCSK1 | c.270A= (p.Leu90=) c.129A= (p.Leu43=) n.354+49576T= | |
| 5 | g.96429229A>C | CA360485113 | PCSK1 | c.269T>G (p.Leu90Ter) c.128T>G (p.Leu43Ter) n.354+49577A>C | |
| 5 | g.96429229A>G | CA360485116 | PCSK1 | c.269T>C (p.Leu90Ser) c.128T>C (p.Leu43Ser) n.354+49577A>G | gnomAD v4 |
| 5 | g.96429229A>T | CA360485114 | PCSK1 | c.269T>A (p.Leu90Ter) c.128T>A (p.Leu43Ter) n.354+49577A>T | |
| 5 | g.96429230del | CA2674667200 | PCSK1 | c.269del (p.Leu90TyrfsTer7) c.128del (p.Leu43TyrfsTer7) n.354+49578del | gnomAD v4 |
| 5 | g.96429230A>C | CA360485118 | PCSK1 | c.268T>G (p.Leu90Val) c.127T>G (p.Leu43Val) n.354+49578A>C | |
| 5 | g.96429230A>G | CA445498862 | PCSK1 | c.268T>C (p.Leu90=) c.127T>C (p.Leu43=) n.354+49578A>G | gnomAD v4 |
| 5 | g.96429230A>T | CA360485119 | PCSK1 | c.268T>A (p.Leu90Ile) c.127T>A (p.Leu43Ile) n.354+49578A>T | |
| 5 | g.96429231T>A | CA360485120 | PCSK1 | c.267A>T (p.Arg89Ser) c.126A>T (p.Arg42Ser) n.354+49579T>A | |
| 5 | g.96429231T>C | CA3350547 | PCSK1 | c.267A>G (p.Arg89=) c.126A>G (p.Arg42=) n.354+49579T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429231T>G | CA360485123 | PCSK1 | c.267A>C (p.Arg89Ser) c.126A>C (p.Arg42Ser) n.354+49579T>G | |
| 5 | g.96429231T= | CA1565418078 | PCSK1 | c.267A= (p.Arg89=) c.126A= (p.Arg42=) n.354+49579T= | |
| 5 | g.96429232C>A | CA360485126 | PCSK1 | c.266G>T (p.Arg89Ile) c.125G>T (p.Arg42Ile) n.354+49580C>A | COSMIC |
| 5 | g.96429232C>G | CA360485127 | PCSK1 | c.266G>C (p.Arg89Thr) c.125G>C (p.Arg42Thr) n.354+49580C>G | |
| 5 | g.96429232C>T | CA360485129 | PCSK1 | c.266G>A (p.Arg89Lys) c.125G>A (p.Arg42Lys) n.354+49580C>T | gnomAD v4 |
| 5 | g.96429233T>A | CA360485131 | PCSK1 | c.265A>T (p.Arg89Ter) c.124A>T (p.Arg42Ter) n.354+49581T>A | |
| 5 | g.96429233T>C | CA360485133 | PCSK1 | c.265A>G (p.Arg89Gly) c.124A>G (p.Arg42Gly) n.354+49581T>C | gnomAD v4 |
| 5 | g.96429233T>G | CA445498863 | PCSK1 | c.265A>C (p.Arg89=) c.124A>C (p.Arg42=) n.354+49581T>G | |
| 5 | g.96429234C>A | CA360485135 | PCSK1 | c.264G>T (p.Lys88Asn) c.123G>T (p.Lys41Asn) n.354+49582C>A | |
| 5 | g.96429234C>G | CA360485137 | PCSK1 | c.264G>C (p.Lys88Asn) c.123G>C (p.Lys41Asn) n.354+49582C>G | |
| 5 | g.96429234C>T | CA445498864 | PCSK1 | c.264G>A (p.Lys88=) c.123G>A (p.Lys41=) n.354+49582C>T | COSMIC |
| 5 | g.96429235T>A | CA360485142 | PCSK1 | c.263A>T (p.Lys88Met) c.122A>T (p.Lys41Met) n.354+49583T>A | |
| 5 | g.96429235T>C | CA360485138 | PCSK1 | c.263A>G (p.Lys88Arg) c.122A>G (p.Lys41Arg) n.354+49583T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.96429235T>G | CA360485140 | PCSK1 | c.263A>C (p.Lys88Thr) c.122A>C (p.Lys41Thr) n.354+49583T>G | |
| 5 | g.96429235T= | CA1565418079 | PCSK1 | c.263A= (p.Lys88=) c.122A= (p.Lys41=) n.354+49583T= | |
| 5 | g.96429236del | CA2578366383 | PCSK1 | c.263del (p.Lys88ArgfsTer9) c.122del (p.Lys41ArgfsTer9) n.354+49584del | gnomAD v4 |
| 5 | g.96429236T>A | CA360485144 | PCSK1 | c.262A>T (p.Lys88Ter) c.121A>T (p.Lys41Ter) n.354+49584T>A | |
| 5 | g.96429236T>C | CA360485146 | PCSK1 | c.262A>G (p.Lys88Glu) c.121A>G (p.Lys41Glu) n.354+49584T>C | gnomAD v4 |
| 5 | g.96429236T>G | CA360485148 | PCSK1 | c.262A>C (p.Lys88Gln) c.121A>C (p.Lys41Gln) n.354+49584T>G | gnomAD v4 |
| 5 | g.96429237A>C | CA445498865 | PCSK1 | c.261T>G (p.Thr87=) c.120T>G (p.Thr40=) n.354+49585A>C | |
| 5 | g.96429237A>G | CA445498866 | PCSK1 | c.261T>C (p.Thr87=) c.120T>C (p.Thr40=) n.354+49585A>G | gnomAD v4 |
| 5 | g.96429237A>T | CA445498867 | PCSK1 | c.261T>A (p.Thr87=) c.120T>A (p.Thr40=) n.354+49585A>T | gnomAD v4 |
| 5 | g.96429238G>A | CA360485150 | PCSK1 | c.260C>T (p.Thr87Ile) c.119C>T (p.Thr40Ile) n.354+49586G>A | gnomAD v4 |
| 5 | g.96429238G>C | CA360485152 | PCSK1 | c.260C>G (p.Thr87Ser) c.119C>G (p.Thr40Ser) n.354+49586G>C | |
| 5 | g.96429238G>T | CA360485154 | PCSK1 | c.260C>A (p.Thr87Asn) c.119C>A (p.Thr40Asn) n.354+49586G>T | gnomAD v4 |
| 5 | g.96429239T>A | CA360485155 | PCSK1 | c.259A>T (p.Thr87Ser) c.118A>T (p.Thr40Ser) n.354+49587T>A | |
| 5 | g.96429239T>C | CA360485157 | PCSK1 | c.259A>G (p.Thr87Ala) c.118A>G (p.Thr40Ala) n.354+49587T>C | gnomAD v4 |
| 5 | g.96429239T>G | CA360485159 | PCSK1 | c.259A>C (p.Thr87Pro) c.118A>C (p.Thr40Pro) n.354+49587T>G | |
| 5 | g.96429240G>A | CA445498868 | PCSK1 | c.258C>T (p.Ile86=) c.117C>T (p.Ile39=) n.354+49588G>A | gnomAD v4 COSMIC |
| 5 | g.96429240G>C | CA360485161 | PCSK1 | c.258C>G (p.Ile86Met) c.117C>G (p.Ile39Met) n.354+49588G>C | |
| 5 | g.96429240G>T | CA445498869 | PCSK1 | c.258C>A (p.Ile86=) c.117C>A (p.Ile39=) n.354+49588G>T | gnomAD v4 |
| 5 | g.96429241A>C | CA360485163 | PCSK1 | c.257T>G (p.Ile86Ser) c.116T>G (p.Ile39Ser) n.354+49589A>C | |
| 5 | g.96429241A>G | CA360485165 | PCSK1 | c.257T>C (p.Ile86Thr) c.116T>C (p.Ile39Thr) n.354+49589A>G | |
| 5 | g.96429241A>T | CA360485167 | PCSK1 | c.257T>A (p.Ile86Asn) c.116T>A (p.Ile39Asn) n.354+49589A>T | |
| 5 | g.96429242T>A | CA360485174 | PCSK1 | c.256A>T (p.Ile86Phe) c.115A>T (p.Ile39Phe) n.354+49590T>A | |
| 5 | g.96429242T>C | CA360485172 | PCSK1 | c.256A>G (p.Ile86Val) c.115A>G (p.Ile39Val) n.354+49590T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429242T>G | CA360485170 | PCSK1 | c.256A>C (p.Ile86Leu) c.115A>C (p.Ile39Leu) n.354+49590T>G | dbSNP |
| 5 | g.96429242T= | CA1565418080 | PCSK1 | c.256A= (p.Ile86=) c.115A= (p.Ile39=) n.354+49590T= | |
| 5 | g.96429243A= | CA1565418081 | PCSK1 | c.255T= (p.His85=) c.114T= (p.His38=) n.354+49591A= | |
| 5 | g.96429243A>C | CA360485176 | PCSK1 | c.255T>G (p.His85Gln) c.114T>G (p.His38Gln) n.354+49591A>C | |
| 5 | g.96429243A>G | CA445498870 | PCSK1 | c.255T>C (p.His85=) c.114T>C (p.His38=) n.354+49591A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429243A>T | CA360485177 | PCSK1 | c.255T>A (p.His85Gln) c.114T>A (p.His38Gln) n.354+49591A>T | gnomAD v4 |
| 5 | g.96429244T>A | CA360485179 | PCSK1 | c.254A>T (p.His85Leu) c.113A>T (p.His38Leu) n.354+49592T>A | |
| 5 | g.96429244T>C | CA360485181 | PCSK1 | c.254A>G (p.His85Arg) c.113A>G (p.His38Arg) n.354+49592T>C | gnomAD v4 |
| 5 | g.96429244T>G | CA360485183 | PCSK1 | c.254A>C (p.His85Pro) c.113A>C (p.His38Pro) n.354+49592T>G | |
| 5 | g.96429245G>A | CA360485184 | PCSK1 | c.253C>T (p.His85Tyr) c.112C>T (p.His38Tyr) n.354+49593G>A | COSMIC |
| 5 | g.96429245G>C | CA360485186 | PCSK1 | c.253C>G (p.His85Asp) c.112C>G (p.His38Asp) n.354+49593G>C | |
| 5 | g.96429245G>T | CA360485189 | PCSK1 | c.253C>A (p.His85Asn) c.112C>A (p.His38Asn) n.354+49593G>T | gnomAD v4 |
| 5 | g.96429246A>C | CA360485191 | PCSK1 | c.252T>G (p.Phe84Leu) c.111T>G (p.Phe37Leu) n.354+49594A>C | |
| 5 | g.96429246A>G | CA445498871 | PCSK1 | c.252T>C (p.Phe84=) c.111T>C (p.Phe37=) n.354+49594A>G | |
| 5 | g.96429246A>T | CA360485193 | PCSK1 | c.252T>A (p.Phe84Leu) c.111T>A (p.Phe37Leu) n.354+49594A>T | |
| 5 | g.96429248del | CA2674667201 | PCSK1 | c.252del (p.His85IlefsTer12) c.111del (p.His38IlefsTer12) n.354+49596del | gnomAD v4 |
| 5 | g.96429247A>C | CA360485195 | PCSK1 | c.251T>G (p.Phe84Cys) c.110T>G (p.Phe37Cys) n.354+49595A>C | |
| 5 | g.96429247A>G | CA360485197 | PCSK1 | c.251T>C (p.Phe84Ser) c.110T>C (p.Phe37Ser) n.354+49595A>G | |
| 5 | g.96429247A>T | CA360485198 | PCSK1 | c.251T>A (p.Phe84Tyr) c.110T>A (p.Phe37Tyr) n.354+49595A>T | |
| 5 | g.96429248A>C | CA360485202 | PCSK1 | c.250T>G (p.Phe84Val) c.109T>G (p.Phe37Val) n.354+49596A>C | |
| 5 | g.96429248A>G | CA360485204 | PCSK1 | c.250T>C (p.Phe84Leu) c.109T>C (p.Phe37Leu) n.354+49596A>G | |
| 5 | g.96429248A>T | CA360485200 | PCSK1 | c.250T>A (p.Phe84Ile) c.109T>A (p.Phe37Ile) n.354+49596A>T | gnomAD v4 |
| 5 | g.96429249G>A | CA445498874 | PCSK1 | c.249C>T (p.Ala83=) c.108C>T (p.Ala36=) n.354+49597G>A | |
| 5 | g.96429249G>C | CA445498872 | PCSK1 | c.249C>G (p.Ala83=) c.108C>G (p.Ala36=) n.354+49597G>C | |
| 5 | g.96429249G>T | CA445498873 | PCSK1 | c.249C>A (p.Ala83=) c.108C>A (p.Ala36=) n.354+49597G>T | |
| 5 | g.96429250G>A | CA360485206 | PCSK1 | c.248C>T (p.Ala83Val) c.107C>T (p.Ala36Val) n.354+49598G>A | gnomAD v4 |
| 5 | g.96429250G>C | CA360485208 | PCSK1 | c.248C>G (p.Ala83Gly) c.107C>G (p.Ala36Gly) n.354+49598G>C | |
| 5 | g.96429250G>T | CA360485211 | PCSK1 | c.248C>A (p.Ala83Asp) c.107C>A (p.Ala36Asp) n.354+49598G>T | gnomAD v4 |
| 5 | g.96429251C>A | CA360485213 | PCSK1 | c.247G>T (p.Ala83Ser) c.106G>T (p.Ala36Ser) n.354+49599C>A | |
| 5 | g.96429251C>G | CA360485214 | PCSK1 | c.247G>C (p.Ala83Pro) c.106G>C (p.Ala36Pro) n.354+49599C>G | gnomAD v4 |
| 5 | g.96429251C>T | CA360485216 | PCSK1 | c.247G>A (p.Ala83Thr) c.106G>A (p.Ala36Thr) n.354+49599C>T | gnomAD v4 |
| 5 | g.96429252A>C | CA360485218 | PCSK1 | c.246T>G (p.Ser82Arg) c.105T>G (p.Ser35Arg) n.354+49600A>C | gnomAD v4 |
| 5 | g.96429252A>G | CA445498875 | PCSK1 | c.246T>C (p.Ser82=) c.105T>C (p.Ser35=) n.354+49600A>G | gnomAD v4 |
| 5 | g.96429252A>T | CA360485220 | PCSK1 | c.246T>A (p.Ser82Arg) c.105T>A (p.Ser35Arg) n.354+49600A>T | |
| 5 | g.96429253C>A | CA360485222 | PCSK1 | c.245G>T (p.Ser82Ile) c.104G>T (p.Ser35Ile) n.354+49601C>A | |
| 5 | g.96429253C= | CA1565418082 | PCSK1 | c.245G= (p.Ser82=) c.104G= (p.Ser35=) n.354+49601C= | |
| 5 | g.96429253C>G | CA360485223 | PCSK1 | c.245G>C (p.Ser82Thr) c.104G>C (p.Ser35Thr) n.354+49601C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429253C>T | CA360485225 | PCSK1 | c.245G>A (p.Ser82Asn) c.104G>A (p.Ser35Asn) n.354+49601C>T | |
| 5 | g.96429254T>A | CA3350549 | PCSK1 | c.244A>T (p.Ser82Cys) c.103A>T (p.Ser35Cys) n.354+49602T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96429254T>C | CA3350548 | PCSK1 | c.244A>G (p.Ser82Gly) c.103A>G (p.Ser35Gly) n.354+49602T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96429254T>G | CA360485230 | PCSK1 | c.244A>C (p.Ser82Arg) c.103A>C (p.Ser35Arg) n.354+49602T>G | |
| 5 | g.96429254T= | CA1565418083 | PCSK1 | c.244A= (p.Ser82=) c.103A= (p.Ser35=) n.354+49602T= | |
| 5 | g.96429255C>A | CA360485233 | PCSK1 | c.243G>T (p.Arg81Ser) c.102G>T (p.Arg34Ser) n.354+49603C>A | gnomAD v4 |
| 5 | g.96429255C= | CA1565418084 | PCSK1 | c.243G= (p.Arg81=) c.102G= (p.Arg34=) n.354+49603C= | |
| 5 | g.96429255C>G | CA360485232 | PCSK1 | c.243G>C (p.Arg81Ser) c.102G>C (p.Arg34Ser) n.354+49603C>G | dbSNP gnomAD v2 |
| 5 | g.96429255C>T | CA445498876 | PCSK1 | c.243G>A (p.Arg81=) c.102G>A (p.Arg34=) n.354+49603C>T | dbSNP gnomAD v4 |
| 5 | g.96429256C>A | CA360485234 | PCSK1 | c.242G>T (p.Arg81Met) c.101G>T (p.Arg34Met) n.354+49604C>A | |
| 5 | g.96429256C>G | CA360485235 | PCSK1 | c.242G>C (p.Arg81Thr) c.101G>C (p.Arg34Thr) n.354+49604C>G | |
| 5 | g.96429256C>T | CA360485236 | PCSK1 | c.242G>A (p.Arg81Lys) c.101G>A (p.Arg34Lys) n.354+49604C>T | |
| 5 | g.96429257T>A | CA360485237 | PCSK1 | c.241A>T (p.Arg81Trp) c.100A>T (p.Arg34Trp) n.354+49605T>A | |
| 5 | g.96429257T>C | CA360485238 | PCSK1 | c.241A>G (p.Arg81Gly) c.100A>G (p.Arg34Gly) n.354+49605T>C | gnomAD v4 |
| 5 | g.96429257T>G | CA445498877 | PCSK1 | c.241A>C (p.Arg81=) c.100A>C (p.Arg34=) n.354+49605T>G | |
| 5 | g.96429258T>A | CA445498878 | PCSK1 | c.240A>T (p.Arg80=) c.99A>T (p.Arg33=) n.354+49606T>A | |
| 5 | g.96429258T>C | CA445498879 | PCSK1 | c.240A>G (p.Arg80=) c.99A>G (p.Arg33=) n.354+49606T>C | |
| 5 | g.96429258T>G | CA445498880 | PCSK1 | c.240A>C (p.Arg80=) c.99A>C (p.Arg33=) n.354+49606T>G | |
| 5 | g.96429259C>A | CA3350551 | PCSK1 | c.239G>T (p.Arg80Leu) c.98G>T (p.Arg33Leu) n.354+49607C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429259C= | CA1565418085 | PCSK1 | c.239G= (p.Arg80=) c.98G= (p.Arg33=) n.354+49607C= | |
| 5 | g.96429259C>G | CA360485239 | PCSK1 | c.239G>C (p.Arg80Pro) c.98G>C (p.Arg33Pro) n.354+49607C>G | gnomAD v4 |
| 5 | g.96429259C>T | CA3350550 | PCSK1 | c.239G>A (p.Arg80Gln) c.98G>A (p.Arg33Gln) n.354+49607C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429260G>A | CA360485240 | PCSK1 | c.238C>T (p.Arg80Ter) c.97C>T (p.Arg33Ter) n.354+49608G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429260G>C | CA3350552 | PCSK1 | c.238C>G (p.Arg80Gly) c.97C>G (p.Arg33Gly) n.354+49608G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96429260G= | CA1565418086 | PCSK1 | c.238C= (p.Arg80=) c.97C= (p.Arg33=) n.354+49608G= | |
| 5 | g.96429260G>T | CA445498881 | PCSK1 | c.238C>A (p.Arg80=) c.97C>A (p.Arg33=) n.354+49608G>T | |
| 5 | g.96429261A>C | CA445498882 | PCSK1 | c.237T>G (p.Ser79=) c.96T>G (p.Ser32=) n.354+49609A>C | |
| 5 | g.96429261A>G | CA445498883 | PCSK1 | c.237T>C (p.Ser79=) c.96T>C (p.Ser32=) n.354+49609A>G | |
| 5 | g.96429261A>T | CA445498884 | PCSK1 | c.237T>A (p.Ser79=) c.96T>A (p.Ser32=) n.354+49609A>T | |
| 5 | g.96429262G>A | CA360485241 | PCSK1 | c.236C>T (p.Ser79Phe) c.95C>T (p.Ser32Phe) n.354+49610G>A | gnomAD v4 |
| 5 | g.96429262G>C | CA360485242 | PCSK1 | c.236C>G (p.Ser79Cys) c.95C>G (p.Ser32Cys) n.354+49610G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429262G= | CA1565418087 | PCSK1 | c.236C= (p.Ser79=) c.95C= (p.Ser32=) n.354+49610G= | |
| 5 | g.96429262G>T | CA360485243 | PCSK1 | c.236C>A (p.Ser79Tyr) c.95C>A (p.Ser32Tyr) n.354+49610G>T | dbSNP |
| 5 | g.96429263A>C | CA360485244 | PCSK1 | c.235T>G (p.Ser79Ala) c.94T>G (p.Ser32Ala) n.354+49611A>C | |
| 5 | g.96429263A>G | CA360485246 | PCSK1 | c.235T>C (p.Ser79Pro) c.94T>C (p.Ser32Pro) n.354+49611A>G | |
| 5 | g.96429263A>T | CA360485245 | PCSK1 | c.235T>A (p.Ser79Thr) c.94T>A (p.Ser32Thr) n.354+49611A>T | |
| 5 | g.96429264C>A | CA3350553 | PCSK1 | c.234G>T (p.Arg78Ser) c.93G>T (p.Arg31Ser) n.354+49612C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429264C= | CA1565418089 | PCSK1 | c.234G= (p.Arg78=) c.93G= (p.Arg31=) n.354+49612C= | |
| 5 | g.96429264C>G | CA360485247 | PCSK1 | c.234G>C (p.Arg78Ser) c.93G>C (p.Arg31Ser) n.354+49612C>G | |
| 5 | g.96429264C>T | CA445498885 | PCSK1 | c.234G>A (p.Arg78=) c.93G>A (p.Arg31=) n.354+49612C>T | |
| 5 | g.96429264_96429267delinsCCTT | CA1565418088 | PCSK1 | c.231_234delinsAAGG (p.Arg77=) c.90_93delinsAAGG (p.Arg30=) n.354+49612_354+49615delinsCCTT | |
| 5 | g.96429265C>A | CA360485248 | PCSK1 | c.233G>T (p.Arg78Met) c.92G>T (p.Arg31Met) n.354+49613C>A | |
| 5 | g.96429265C= | CA1565418090 | PCSK1 | c.233G= (p.Arg78=) c.92G= (p.Arg31=) n.354+49613C= | |
| 5 | g.96429265C>G | CA360485249 | PCSK1 | c.233G>C (p.Arg78Thr) c.92G>C (p.Arg31Thr) n.354+49613C>G | |
| 5 | g.96429265C>T | CA360485250 | PCSK1 | c.233G>A (p.Arg78Lys) c.92G>A (p.Arg31Lys) n.354+49613C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.96429267_96429269del | CA561285026 | PCSK1 | c.231_233del (p.Arg78del) c.90_92del (p.Arg31del) n.354+49615_354+49617del | dbSNP gnomAD v2 |
| 5 | g.96429266T>A | CA360485251 | PCSK1 | c.232A>T (p.Arg78Trp) c.91A>T (p.Arg31Trp) n.354+49614T>A | |
| 5 | g.96429266T>C | CA360485252 | PCSK1 | c.232A>G (p.Arg78Gly) c.91A>G (p.Arg31Gly) n.354+49614T>C | |
| 5 | g.96429266T>G | CA445498886 | PCSK1 | c.232A>C (p.Arg78=) c.91A>C (p.Arg31=) n.354+49614T>G | |
| 5 | g.96429267del | CA2674667202 | PCSK1 | c.232del (p.Arg78GlyfsTer19) c.91del (p.Arg31GlyfsTer19) n.354+49615del | gnomAD v4 |
| 5 | g.96429267T>A | CA360485253 | PCSK1 | c.231A>T (p.Arg77Ser) c.90A>T (p.Arg30Ser) n.354+49615T>A | |
| 5 | g.96429267T>C | CA445498887 | PCSK1 | c.231A>G (p.Arg77=) c.90A>G (p.Arg30=) n.354+49615T>C | |
| 5 | g.96429267T>G | CA360485254 | PCSK1 | c.231A>C (p.Arg77Ser) c.90A>C (p.Arg30Ser) n.354+49615T>G | gnomAD v4 |
| 5 | g.96429268C>A | CA360485255 | PCSK1 | c.230G>T (p.Arg77Ile) c.89G>T (p.Arg30Ile) n.354+49616C>A | |
| 5 | g.96429268C>G | CA360485256 | PCSK1 | c.230G>C (p.Arg77Thr) c.89G>C (p.Arg30Thr) n.354+49616C>G | |
| 5 | g.96429268C>T | CA360485257 | PCSK1 | c.230G>A (p.Arg77Lys) c.89G>A (p.Arg30Lys) n.354+49616C>T | |
| 5 | g.96429269T>A | CA360485259 | PCSK1 | c.229A>T (p.Arg77Ter) c.88A>T (p.Arg30Ter) n.354+49617T>A | |
| 5 | g.96429269T>C | CA360485258 | PCSK1 | c.229A>G (p.Arg77Gly) c.88A>G (p.Arg30Gly) n.354+49617T>C | |
| 5 | g.96429269T>G | CA445498888 | PCSK1 | c.229A>C (p.Arg77=) c.88A>C (p.Arg30=) n.354+49617T>G | |
| 5 | g.96429270G>A | CA3350554 | PCSK1 | c.228C>T (p.Pro76=) c.87C>T (p.Pro29=) n.354+49618G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96429270G>C | CA445498889 | PCSK1 | c.228C>G (p.Pro76=) c.87C>G (p.Pro29=) n.354+49618G>C | |
| 5 | g.96429270G= | CA1565418091 | PCSK1 | c.228C= (p.Pro76=) c.87C= (p.Pro29=) n.354+49618G= | |
| 5 | g.96429270G>T | CA445498890 | PCSK1 | c.228C>A (p.Pro76=) c.87C>A (p.Pro29=) n.354+49618G>T | |
| 5 | g.96429273del | CA2578366384 | PCSK1 | c.228del (p.Arg77GlufsTer20) c.87del (p.Arg30GlufsTer20) n.354+49621del | gnomAD v4 |
| 5 | g.96429271G>A | CA360485260 | PCSK1 | c.227C>T (p.Pro76Leu) c.86C>T (p.Pro29Leu) n.354+49619G>A | |
| 5 | g.96429271G>C | CA360485261 | PCSK1 | c.227C>G (p.Pro76Arg) c.86C>G (p.Pro29Arg) n.354+49619G>C | |
| 5 | g.96429271G>T | CA360485262 | PCSK1 | c.227C>A (p.Pro76His) c.86C>A (p.Pro29His) n.354+49619G>T | gnomAD v4 |
| 5 | g.96429272G>A | CA3350555 | PCSK1 | c.226C>T (p.Pro76Ser) c.85C>T (p.Pro29Ser) n.354+49620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96429272G>C | CA360485263 | PCSK1 | c.226C>G (p.Pro76Ala) c.85C>G (p.Pro29Ala) n.354+49620G>C | |
| 5 | g.96429272G= | CA1565418092 | PCSK1 | c.226C= (p.Pro76=) c.85C= (p.Pro29=) n.354+49620G= | |
| 5 | g.96429272G>T | CA360485264 | PCSK1 | c.226C>A (p.Pro76Thr) c.85C>A (p.Pro29Thr) n.354+49620G>T | gnomAD v4 |
| 5 | g.96429273G>A | CA445498891 | PCSK1 | c.225C>T (p.His75=) c.84C>T (p.His28=) n.354+49621G>A | gnomAD v4 |
| 5 | g.96429273G>C | CA360485265 | PCSK1 | c.225C>G (p.His75Gln) c.84C>G (p.His28Gln) n.354+49621G>C | |
| 5 | g.96429273G>T | CA360485266 | PCSK1 | c.225C>A (p.His75Gln) c.84C>A (p.His28Gln) n.354+49621G>T | gnomAD v4 |
| 5 | g.96429274T>A | CA360485267 | PCSK1 | c.224A>T (p.His75Leu) c.83A>T (p.His28Leu) n.354+49622T>A | |
| 5 | g.96429274T>C | CA360485268 | PCSK1 | c.224A>G (p.His75Arg) c.83A>G (p.His28Arg) n.354+49622T>C | |
| 5 | g.96429274T>G | CA360485269 | PCSK1 | c.224A>C (p.His75Pro) c.83A>C (p.His28Pro) n.354+49622T>G | |
| 5 | g.96429275G>A | CA360485272 | PCSK1 | c.223C>T (p.His75Tyr) c.82C>T (p.His28Tyr) n.354+49623G>A | |
| 5 | g.96429275G>C | CA360485271 | PCSK1 | c.223C>G (p.His75Asp) c.82C>G (p.His28Asp) n.354+49623G>C | |
| 5 | g.96429275G>T | CA360485270 | PCSK1 | c.223C>A (p.His75Asn) c.82C>A (p.His28Asn) n.354+49623G>T | gnomAD v4 |
| 5 | g.96429276G>A | CA445498892 | PCSK1 | c.222C>T (p.Asn74=) c.81C>T (p.Asn27=) n.354+49624G>A | dbSNP |
| 5 | g.96429276G>C | CA360485273 | PCSK1 | c.222C>G (p.Asn74Lys) c.81C>G (p.Asn27Lys) n.354+49624G>C | |
| 5 | g.96429276G>T | CA360485274 | PCSK1 | c.222C>A (p.Asn74Lys) c.81C>A (p.Asn27Lys) n.354+49624G>T | gnomAD v4 |
| 5 | g.96429277T>A | CA360485275 | PCSK1 | c.221A>T (p.Asn74Ile) c.80A>T (p.Asn27Ile) n.354+49625T>A | |
| 5 | g.96429277T>C | CA360485277 | PCSK1 | c.221A>G (p.Asn74Ser) c.80A>G (p.Asn27Ser) n.354+49625T>C | gnomAD v4 |
| 5 | g.96429277T>G | CA360485276 | PCSK1 | c.221A>C (p.Asn74Thr) c.80A>C (p.Asn27Thr) n.354+49625T>G | |
| 5 | g.96429281del | CA2674667203 | PCSK1 | c.221del (p.Asn74ThrfsTer23) c.80del (p.Asn27ThrfsTer23) n.354+49629del | gnomAD v4 |
| 5 | g.96429278T>A | CA360485278 | PCSK1 | c.220A>T (p.Asn74Tyr) c.79A>T (p.Asn27Tyr) n.354+49626T>A | |
| 5 | g.96429278T>C | CA360485280 | PCSK1 | c.220A>G (p.Asn74Asp) c.79A>G (p.Asn27Asp) n.354+49626T>C | |
| 5 | g.96429278T>G | CA360485279 | PCSK1 | c.220A>C (p.Asn74His) c.79A>C (p.Asn27His) n.354+49626T>G | |
| 5 | g.96429279T>A | CA360485281 | PCSK1 | c.219A>T (p.Lys73Asn) c.78A>T (p.Lys26Asn) n.354+49627T>A | |
| 5 | g.96429279T>C | CA445498893 | PCSK1 | c.219A>G (p.Lys73=) c.78A>G (p.Lys26=) n.354+49627T>C | |
| 5 | g.96429279T>G | CA360485282 | PCSK1 | c.219A>C (p.Lys73Asn) c.78A>C (p.Lys26Asn) n.354+49627T>G | |
| 5 | g.96429280T>A | CA360485283 | PCSK1 | c.218A>T (p.Lys73Ile) c.77A>T (p.Lys26Ile) n.354+49628T>A | |
| 5 | g.96429280T>C | CA360485284 | PCSK1 | c.218A>G (p.Lys73Arg) c.77A>G (p.Lys26Arg) n.354+49628T>C | |
| 5 | g.96429280T>G | CA360485285 | PCSK1 | c.218A>C (p.Lys73Thr) c.77A>C (p.Lys26Thr) n.354+49628T>G | |
| 5 | g.96429281T>A | CA360485286 | PCSK1 | c.217A>T (p.Lys73Ter) c.76A>T (p.Lys26Ter) n.354+49629T>A | |
| 5 | g.96429281T>C | CA360485287 | PCSK1 | c.217A>G (p.Lys73Glu) c.76A>G (p.Lys26Glu) n.354+49629T>C | gnomAD v4 |
| 5 | g.96429281T>G | CA360485288 | PCSK1 | c.217A>C (p.Lys73Gln) c.76A>C (p.Lys26Gln) n.354+49629T>G | |
| 5 | g.96429282A= | CA1565418093 | PCSK1 | c.216T= (p.His72=) c.75T= (p.His25=) n.354+49630A= | |
| 5 | g.96429282A>C | CA360485289 | PCSK1 | c.216T>G (p.His72Gln) c.75T>G (p.His25Gln) n.354+49630A>C | |
| 5 | g.96429282A>G | CA3350556 | PCSK1 | c.216T>C (p.His72=) c.75T>C (p.His25=) n.354+49630A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.96429282A>T | CA360485290 | PCSK1 | c.216T>A (p.His72Gln) c.75T>A (p.His25Gln) n.354+49630A>T | |
| 5 | g.96429283T>A | CA360485291 | PCSK1 | c.215A>T (p.His72Leu) c.74A>T (p.His25Leu) n.354+49631T>A | |
| 5 | g.96429283T>C | CA360485292 | PCSK1 | c.215A>G (p.His72Arg) c.74A>G (p.His25Arg) n.354+49631T>C | gnomAD v4 |
| 5 | g.96429283T>G | CA360485293 | PCSK1 | c.215A>C (p.His72Pro) c.74A>C (p.His25Pro) n.354+49631T>G | |
| 5 | g.96429284G>A | CA360485294 | PCSK1 | c.214C>T (p.His72Tyr) c.73C>T (p.His25Tyr) n.354+49632G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.96429284G>C | CA360485296 | PCSK1 | c.214C>G (p.His72Asp) c.73C>G (p.His25Asp) n.354+49632G>C | |
| 5 | g.96429284G= | CA1565418094 | PCSK1 | c.214C= (p.His72=) c.73C= (p.His25=) n.354+49632G= | |
| 5 | g.96429284G>T | CA360485295 | PCSK1 | c.214C>A (p.His72Asn) c.73C>A (p.His25Asn) n.354+49632G>T | gnomAD v4 |
| 5 | g.96429285T>A | CA360485297 | PCSK1 | c.213A>T (p.Lys71Asn) c.72A>T (p.Lys24Asn) n.354+49633T>A | |
| 5 | g.96429285T>C | CA445498894 | PCSK1 | c.213A>G (p.Lys71=) c.72A>G (p.Lys24=) n.354+49633T>C | gnomAD v4 |
| 5 | g.96429285T>G | CA360485298 | PCSK1 | c.213A>C (p.Lys71Asn) c.72A>C (p.Lys24Asn) n.354+49633T>G | |
| 5 | g.96429286T>A | CA360485299 | PCSK1 | c.212A>T (p.Lys71Ile) c.71A>T (p.Lys24Ile) n.354+49634T>A | |
| 5 | g.96429286T>C | CA360485300 | PCSK1 | c.212A>G (p.Lys71Arg) c.71A>G (p.Lys24Arg) n.354+49634T>C | |
| 5 | g.96429286T>G | CA360485301 | PCSK1 | c.212A>C (p.Lys71Thr) c.71A>C (p.Lys24Thr) n.354+49634T>G | COSMIC |
| 5 | g.96429287T>A | CA360485302 | PCSK1 | c.211A>T (p.Lys71Ter) c.70A>T (p.Lys24Ter) n.354+49635T>A | |
| 5 | g.96429287T>C | CA360485303 | PCSK1 | c.211A>G (p.Lys71Glu) c.70A>G (p.Lys24Glu) n.354+49635T>C | |
| 5 | g.96429287T>G | CA360485304 | PCSK1 | c.211A>C (p.Lys71Gln) c.70A>C (p.Lys24Gln) n.354+49635T>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.96429287T= | CA1565418095 | PCSK1 | c.211A= (p.Lys71=) c.70A= (p.Lys24=) n.354+49635T= | |
| 5 | g.96429288G>A | CA445498895 | PCSK1 | c.210C>T (p.Phe70=) c.69C>T (p.Phe23=) n.354+49636G>A | COSMIC |
| 5 | g.96429288G>C | CA360485305 | PCSK1 | c.210C>G (p.Phe70Leu) c.69C>G (p.Phe23Leu) n.354+49636G>C | gnomAD v4 COSMIC |
| 5 | g.96429288G>T | CA360485306 | PCSK1 | c.210C>A (p.Phe70Leu) c.69C>A (p.Phe23Leu) n.354+49636G>T | gnomAD v4 |
| 5 | g.96429289A= | CA1565418096 | PCSK1 | c.209T= (p.Phe70=) c.68T= (p.Phe23=) n.354+49637A= | |
| 5 | g.96429289A>C | CA360485308 | PCSK1 | c.209T>G (p.Phe70Cys) c.68T>G (p.Phe23Cys) n.354+49637A>C | |
| 5 | g.96429289A>G | CA122935889 | PCSK1 | c.209T>C (p.Phe70Ser) c.68T>C (p.Phe23Ser) n.354+49637A>G | dbSNP |
| 5 | g.96429289A>T | CA360485307 | PCSK1 | c.209T>A (p.Phe70Tyr) c.68T>A (p.Phe23Tyr) n.354+49637A>T | |
| 5 | g.96429290A>C | CA360485309 | PCSK1 | c.208T>G (p.Phe70Val) c.67T>G (p.Phe23Val) n.354+49638A>C | |
| 5 | g.96429290A>G | CA360485310 | PCSK1 | c.208T>C (p.Phe70Leu) c.67T>C (p.Phe23Leu) n.354+49638A>G | gnomAD v4 |
| 5 | g.96429290A>T | CA360485311 | PCSK1 | c.208T>A (p.Phe70Ile) c.67T>A (p.Phe23Ile) n.354+49638A>T | |
| 5 | g.96429291T>A | CA360485312 | PCSK1 | c.207A>T (p.Leu69Phe) c.66A>T (p.Leu22Phe) n.354+49639T>A | |
| 5 | g.96429291T>C | CA445498896 | PCSK1 | c.207A>G (p.Leu69=) c.66A>G (p.Leu22=) n.354+49639T>C | |
| 5 | g.96429291T>G | CA360485313 | PCSK1 | c.207A>C (p.Leu69Phe) c.66A>C (p.Leu22Phe) n.354+49639T>G | |
| 5 | g.96429292A>C | CA360485314 | PCSK1 | c.206T>G (p.Leu69Ter) c.65T>G (p.Leu22Ter) n.354+49640A>C | |
| 5 | g.96429292A>G | CA360485315 | PCSK1 | c.206T>C (p.Leu69Ser) c.65T>C (p.Leu22Ser) n.354+49640A>G | |
| 5 | g.96429292A>T | CA360485316 | PCSK1 | c.206T>A (p.Leu69Ter) c.65T>A (p.Leu22Ter) n.354+49640A>T | gnomAD v4 |
| 5 | g.96429293del | CA2578366385 | PCSK1 | c.206del (p.Leu69TyrfsTer28) c.65del (p.Leu22TyrfsTer28) n.354+49641del | |
| 5 | g.96429293A>C | CA360485317 | PCSK1 | c.205T>G (p.Leu69Val) c.64T>G (p.Leu22Val) n.354+49641A>C | |
| 5 | g.96429293A>G | CA445498897 | PCSK1 | c.205T>C (p.Leu69=) c.64T>C (p.Leu22=) n.354+49641A>G | |
| 5 | g.96429293A>T | CA360485318 | PCSK1 | c.205T>A (p.Leu69Ile) c.64T>A (p.Leu22Ile) n.354+49641A>T | |
| 5 | g.96429296_96429298del | CA2578366386 | PCSK1 | c.203_205del (p.Tyr68del) c.62_64del (p.Tyr21del) n.354+49644_354+49646del | gnomAD v4 |
| 5 | g.96429294G>A | CA445498898 | PCSK1 | c.204C>T (p.Tyr68=) c.63C>T (p.Tyr21=) n.354+49642G>A | gnomAD v4 |
| 5 | g.96429294G>C | CA360485319 | PCSK1 | c.204C>G (p.Tyr68Ter) c.63C>G (p.Tyr21Ter) n.354+49642G>C | |
| 5 | g.96429294G>T | CA360485320 | PCSK1 | c.204C>A (p.Tyr68Ter) c.63C>A (p.Tyr21Ter) n.354+49642G>T | gnomAD v4 |
| 5 | g.96429295T>A | CA360485322 | PCSK1 | c.203A>T (p.Tyr68Phe) c.62A>T (p.Tyr21Phe) n.354+49643T>A | gnomAD v4 |
| 5 | g.96429295T>C | CA360485323 | PCSK1 | c.203A>G (p.Tyr68Cys) c.62A>G (p.Tyr21Cys) n.354+49643T>C | gnomAD v4 |
| 5 | g.96429295T>G | CA360485321 | PCSK1 | c.203A>C (p.Tyr68Ser) c.62A>C (p.Tyr21Ser) n.354+49643T>G | |
| 5 | g.96429296A= | CA1565418097 | PCSK1 | c.202T= (p.Tyr68=) c.61T= (p.Tyr21=) n.354+49644A= | |
| 5 | g.96429296A>C | CA360485324 | PCSK1 | c.202T>G (p.Tyr68Asp) c.61T>G (p.Tyr21Asp) n.354+49644A>C | |
| 5 | g.96429296A>G | CA360485325 | PCSK1 | c.202T>C (p.Tyr68His) c.61T>C (p.Tyr21His) n.354+49644A>G | dbSNP |
| 5 | g.96429296A>T | CA360485326 | PCSK1 | c.202T>A (p.Tyr68Asn) c.61T>A (p.Tyr21Asn) n.354+49644A>T | |
| 5 | g.96429297G>A | CA445498899 | PCSK1 | c.201C>T (p.His67=) c.60C>T (p.His20=) n.354+49645G>A | |
| 5 | g.96429297G>C | CA360485327 | PCSK1 | c.201C>G (p.His67Gln) c.60C>G (p.His20Gln) n.354+49645G>C | |
| 5 | g.96429297G= | CA1565418098 | PCSK1 | c.201C= (p.His67=) c.60C= (p.His20=) n.354+49645G= | |
| 5 | g.96429297G>T | CA360485328 | PCSK1 | c.201C>A (p.His67Gln) c.60C>A (p.His20Gln) n.354+49645G>T | dbSNP gnomAD v4 |
| 5 | g.96429298T>A | CA360485331 | PCSK1 | c.200A>T (p.His67Leu) c.59A>T (p.His20Leu) n.354+49646T>A | gnomAD v4 |
| 5 | g.96429298T>C | CA360485329 | PCSK1 | c.200A>G (p.His67Arg) c.59A>G (p.His20Arg) n.354+49646T>C | gnomAD v4 |
| 5 | g.96429298T>G | CA360485330 | PCSK1 | c.200A>C (p.His67Pro) c.59A>C (p.His20Pro) n.354+49646T>G | |
| 5 | g.96429299G>A | CA360485332 | PCSK1 | c.199C>T (p.His67Tyr) c.58C>T (p.His20Tyr) n.354+49647G>A | dbSNP gnomAD v4 |
| 5 | g.96429299G>C | CA360485333 | PCSK1 | c.199C>G (p.His67Asp) c.58C>G (p.His20Asp) n.354+49647G>C | gnomAD v4 |
| 5 | g.96429299G= | CA1565418099 | PCSK1 | c.199C= (p.His67=) c.58C= (p.His20=) n.354+49647G= | |
| 5 | g.96429299G>T | CA360485334 | PCSK1 | c.199C>A (p.His67Asn) c.58C>A (p.His20Asn) n.354+49647G>T | gnomAD v4 |
| 5 | g.96429300A>C | CA360485335 | PCSK1 | c.198T>G (p.Asn66Lys) c.57T>G (p.Asn19Lys) n.354+49648A>C | |
| 5 | g.96429300A>G | CA445498900 | PCSK1 | c.198T>C (p.Asn66=) c.57T>C (p.Asn19=) n.354+49648A>G | |
| 5 | g.96429300A>T | CA360485336 | PCSK1 | c.198T>A (p.Asn66Lys) c.57T>A (p.Asn19Lys) n.354+49648A>T | |
| 5 | g.96429301T>A | CA360485339 | PCSK1 | c.197A>T (p.Asn66Ile) c.56A>T (p.Asn19Ile) n.354+49649T>A | |
| 5 | g.96429301T>C | CA360485338 | PCSK1 | c.197A>G (p.Asn66Ser) c.56A>G (p.Asn19Ser) n.354+49649T>C | gnomAD v4 |
| 5 | g.96429301T>G | CA360485337 | PCSK1 | c.197A>C (p.Asn66Thr) c.56A>C (p.Asn19Thr) n.354+49649T>G | |
| 5 | g.96429302T>A | CA360485340 | PCSK1 | c.196A>T (p.Asn66Tyr) c.55A>T (p.Asn19Tyr) n.354+49650T>A | |
| 5 | g.96429302T>C | CA360485342 | PCSK1 | c.196A>G (p.Asn66Asp) c.55A>G (p.Asn19Asp) n.354+49650T>C | gnomAD v4 |
| 5 | g.96429302T>G | CA360485341 | PCSK1 | c.196A>C (p.Asn66His) c.55A>C (p.Asn19His) n.354+49650T>G | |
| 5 | g.96429303T>A | CA360485343 | PCSK1 | c.195A>T (p.Glu65Asp) c.54A>T (p.Glu18Asp) n.354+49651T>A | |
| 5 | g.96429303T>C | CA445498901 | PCSK1 | c.195A>G (p.Glu65=) c.54A>G (p.Glu18=) n.354+49651T>C | gnomAD v4 |
| 5 | g.96429303T>G | CA360485344 | PCSK1 | c.195A>C (p.Glu65Asp) c.54A>C (p.Glu18Asp) n.354+49651T>G | |
| 5 | g.96429304T>A | CA360485345 | PCSK1 | c.194A>T (p.Glu65Val) c.53A>T (p.Glu18Val) n.354+49652T>A | |
| 5 | g.96429304T>C | CA360485346 | PCSK1 | c.194A>G (p.Glu65Gly) c.53A>G (p.Glu18Gly) n.354+49652T>C | gnomAD v4 |
| 5 | g.96429304T>G | CA360485347 | PCSK1 | c.194A>C (p.Glu65Ala) c.53A>C (p.Glu18Ala) n.354+49652T>G | |
| 5 | g.96429305C>A | CA360485348 | PCSK1 | c.193G>T (p.Glu65Ter) c.52G>T (p.Glu18Ter) n.354+49653C>A | |
| 5 | g.96429305C= | CA1565418100 | PCSK1 | c.193G= (p.Glu65=) c.52G= (p.Glu18=) n.354+49653C= | |
| 5 | g.96429305C>G | CA360485349 | PCSK1 | c.193G>C (p.Glu65Gln) c.52G>C (p.Glu18Gln) n.354+49653C>G | |
| 5 | g.96429305C>T | CA122935896 | PCSK1 | c.193G>A (p.Glu65Lys) c.52G>A (p.Glu18Lys) n.354+49653C>T | dbSNP COSMIC |
| 5 | g.96429308_96429316del | CA2578366387 | PCSK1 | c.185_193del (p.Gly62_Leu64del) c.44_52del (p.Gly15_Leu17del) n.354+49656_354+49664del | |
| 5 | g.96429306A>C | CA445498904 | PCSK1 | c.192T>G (p.Leu64=) c.51T>G (p.Leu17=) n.354+49654A>C | |
| 5 | g.96429306A>G | CA445498903 | PCSK1 | c.192T>C (p.Leu64=) c.51T>C (p.Leu17=) n.354+49654A>G | gnomAD v4 |
| 5 | g.96429306A>T | CA445498902 | PCSK1 | c.192T>A (p.Leu64=) c.51T>A (p.Leu17=) n.354+49654A>T | |
| 5 | g.96429307A>C | CA360485350 | PCSK1 | c.191T>G (p.Leu64Arg) c.50T>G (p.Leu17Arg) n.354+49655A>C | |
| 5 | g.96429307A>G | CA360485351 | PCSK1 | c.191T>C (p.Leu64Pro) c.50T>C (p.Leu17Pro) n.354+49655A>G | gnomAD v4 |
| 5 | g.96429307A>T | CA360485352 | PCSK1 | c.191T>A (p.Leu64His) c.50T>A (p.Leu17His) n.354+49655A>T |