Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.93922976C>A | CA371694724 | PDP1 | c.917C>A (p.Ser306Ter) c.992C>A (p.Ser331Ter) c.971C>A (p.Ser324Ter) c.1079C>A (p.Ser360Ter) | |
8 | g.93922976C>G | CA371694726 | PDP1 | c.917C>G (p.Ser306Ter) c.992C>G (p.Ser331Ter) c.971C>G (p.Ser324Ter) c.1079C>G (p.Ser360Ter) | |
8 | g.93922976C>T | CA371694728 | PDP1 | c.917C>T (p.Ser306Leu) c.992C>T (p.Ser331Leu) c.971C>T (p.Ser324Leu) c.1079C>T (p.Ser360Leu) | |
8 | g.93922977A>C | CA462118055 | PDP1 | c.918A>C (p.Ser306=) c.993A>C (p.Ser331=) c.972A>C (p.Ser324=) c.1080A>C (p.Ser360=) | gnomAD v4 |
8 | g.93922977A>G | CA462118057 | PDP1 | c.918A>G (p.Ser306=) c.993A>G (p.Ser331=) c.972A>G (p.Ser324=) c.1080A>G (p.Ser360=) | gnomAD v4 |
8 | g.93922977A>T | CA462118060 | PDP1 | c.918A>T (p.Ser306=) c.993A>T (p.Ser331=) c.972A>T (p.Ser324=) c.1080A>T (p.Ser360=) | |
8 | g.93922978G>A | CA371694731 | PDP1 | c.919G>A (p.Ala307Thr) c.994G>A (p.Ala332Thr) c.973G>A (p.Ala325Thr) c.1081G>A (p.Ala361Thr) | |
8 | g.93922978G>C | CA371694733 | PDP1 | c.919G>C (p.Ala307Pro) c.994G>C (p.Ala332Pro) c.973G>C (p.Ala325Pro) c.1081G>C (p.Ala361Pro) | |
8 | g.93922978G= | CA1803280806 | PDP1 | c.919G= (p.Ala307=) c.994G= (p.Ala332=) c.973G= (p.Ala325=) c.1081G= (p.Ala361=) | |
8 | g.93922978G>T | CA4808759 | PDP1 | c.919G>T (p.Ala307Ser) c.994G>T (p.Ala332Ser) c.973G>T (p.Ala325Ser) c.1081G>T (p.Ala361Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922979C>A | CA371694737 | PDP1 | c.920C>A (p.Ala307Glu) c.995C>A (p.Ala332Glu) c.974C>A (p.Ala325Glu) c.1082C>A (p.Ala361Glu) | |
8 | g.93922979C>G | CA371694738 | PDP1 | c.920C>G (p.Ala307Gly) c.995C>G (p.Ala332Gly) c.974C>G (p.Ala325Gly) c.1082C>G (p.Ala361Gly) | |
8 | g.93922979C>T | CA371694739 | PDP1 | c.920C>T (p.Ala307Val) c.995C>T (p.Ala332Val) c.974C>T (p.Ala325Val) c.1082C>T (p.Ala361Val) | |
8 | g.93922980A>C | CA462118067 | PDP1 | c.921A>C (p.Ala307=) c.996A>C (p.Ala332=) c.975A>C (p.Ala325=) c.1083A>C (p.Ala361=) | |
8 | g.93922980A>G | CA462118066 | PDP1 | c.921A>G (p.Ala307=) c.996A>G (p.Ala332=) c.975A>G (p.Ala325=) c.1083A>G (p.Ala361=) | |
8 | g.93922980A>T | CA462118064 | PDP1 | c.921A>T (p.Ala307=) c.996A>T (p.Ala332=) c.975A>T (p.Ala325=) c.1083A>T (p.Ala361=) | |
8 | g.93922981G>A | CA371694742 | PDP1 | c.922G>A (p.Val308Ile) c.997G>A (p.Val333Ile) c.976G>A (p.Val326Ile) c.1084G>A (p.Val362Ile) | |
8 | g.93922981G>C | CA371694744 | PDP1 | c.922G>C (p.Val308Leu) c.997G>C (p.Val333Leu) c.976G>C (p.Val326Leu) c.1084G>C (p.Val362Leu) | |
8 | g.93922981G>T | CA371694740 | PDP1 | c.922G>T (p.Val308Phe) c.997G>T (p.Val333Phe) c.976G>T (p.Val326Phe) c.1084G>T (p.Val362Phe) | |
8 | g.93922982T>A | CA371694746 | PDP1 | c.923T>A (p.Val308Asp) c.998T>A (p.Val333Asp) c.977T>A (p.Val326Asp) c.1085T>A (p.Val362Asp) | |
8 | g.93922982T>C | CA371694747 | PDP1 | c.923T>C (p.Val308Ala) c.998T>C (p.Val333Ala) c.977T>C (p.Val326Ala) c.1085T>C (p.Val362Ala) | gnomAD v4 |
8 | g.93922982T>G | CA371694749 | PDP1 | c.923T>G (p.Val308Gly) c.998T>G (p.Val333Gly) c.977T>G (p.Val326Gly) c.1085T>G (p.Val362Gly) | |
8 | g.93922983C>A | CA462118073 | PDP1 | c.924C>A (p.Val308=) c.999C>A (p.Val333=) c.978C>A (p.Val326=) c.1086C>A (p.Val362=) | |
8 | g.93922983C>G | CA462118072 | PDP1 | c.924C>G (p.Val308=) c.999C>G (p.Val333=) c.978C>G (p.Val326=) c.1086C>G (p.Val362=) | gnomAD v4 |
8 | g.93922983C>T | CA462118071 | PDP1 | c.924C>T (p.Val308=) c.999C>T (p.Val333=) c.978C>T (p.Val326=) c.1086C>T (p.Val362=) | |
8 | g.93922984A>C | CA371694751 | PDP1 | c.925A>C (p.Thr309Pro) c.1000A>C (p.Thr334Pro) c.979A>C (p.Thr327Pro) c.1087A>C (p.Thr363Pro) | |
8 | g.93922984A>G | CA371694753 | PDP1 | c.925A>G (p.Thr309Ala) c.1000A>G (p.Thr334Ala) c.979A>G (p.Thr327Ala) c.1087A>G (p.Thr363Ala) | |
8 | g.93922984A>T | CA371694755 | PDP1 | c.925A>T (p.Thr309Ser) c.1000A>T (p.Thr334Ser) c.979A>T (p.Thr327Ser) c.1087A>T (p.Thr363Ser) | |
8 | g.93922984dup | CA2687927849 | PDP1 | c.925dup (p.Thr309AsnfsTer4) c.1000dup (p.Thr334AsnfsTer4) c.979dup (p.Thr327AsnfsTer4) c.1087dup (p.Thr363AsnfsTer4) | gnomAD v4 |
8 | g.93922985C>A | CA371694756 | PDP1 | c.926C>A (p.Thr309Lys) c.1001C>A (p.Thr334Lys) c.980C>A (p.Thr327Lys) c.1088C>A (p.Thr363Lys) | |
8 | g.93922985C= | CA1803280807 | PDP1 | c.926C= (p.Thr309=) c.1001C= (p.Thr334=) c.980C= (p.Thr327=) c.1088C= (p.Thr363=) | |
8 | g.93922985C>G | CA371694757 | PDP1 | c.926C>G (p.Thr309Arg) c.1001C>G (p.Thr334Arg) c.980C>G (p.Thr327Arg) c.1088C>G (p.Thr363Arg) | |
8 | g.93922985C>T | CA4808760 | PDP1 | c.926C>T (p.Thr309Met) c.1001C>T (p.Thr334Met) c.980C>T (p.Thr327Met) c.1088C>T (p.Thr363Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922986G>A | CA4808761 | PDP1 | c.927G>A (p.Thr309=) c.1002G>A (p.Thr334=) c.981G>A (p.Thr327=) c.1089G>A (p.Thr363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93922986G>C | CA462118081 | PDP1 | c.927G>C (p.Thr309=) c.1002G>C (p.Thr334=) c.981G>C (p.Thr327=) c.1089G>C (p.Thr363=) | |
8 | g.93922986G= | CA1803280808 | PDP1 | c.927G= (p.Thr309=) c.1002G= (p.Thr334=) c.981G= (p.Thr327=) c.1089G= (p.Thr363=) | |
8 | g.93922986G>T | CA462118078 | PDP1 | c.927G>T (p.Thr309=) c.1002G>T (p.Thr334=) c.981G>T (p.Thr327=) c.1089G>T (p.Thr363=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922987C>A | CA371694758 | PDP1 | c.928C>A (p.Leu310Met) c.1003C>A (p.Leu335Met) c.982C>A (p.Leu328Met) c.1090C>A (p.Leu364Met) | |
8 | g.93922987C>G | CA371694760 | PDP1 | c.928C>G (p.Leu310Val) c.1003C>G (p.Leu335Val) c.982C>G (p.Leu328Val) c.1090C>G (p.Leu364Val) | |
8 | g.93922987C>T | CA462118084 | PDP1 | c.928C>T (p.Leu310=) c.1003C>T (p.Leu335=) c.982C>T (p.Leu328=) c.1090C>T (p.Leu364=) | gnomAD v4 |
8 | g.93922988T>A | CA371694764 | PDP1 | c.929T>A (p.Leu310Gln) c.1004T>A (p.Leu335Gln) c.983T>A (p.Leu328Gln) c.1091T>A (p.Leu364Gln) | |
8 | g.93922988T>C | CA371694765 | PDP1 | c.929T>C (p.Leu310Pro) c.1004T>C (p.Leu335Pro) c.983T>C (p.Leu328Pro) c.1091T>C (p.Leu364Pro) | |
8 | g.93922988T>G | CA371694762 | PDP1 | c.929T>G (p.Leu310Arg) c.1004T>G (p.Leu335Arg) c.983T>G (p.Leu328Arg) c.1091T>G (p.Leu364Arg) | |
8 | g.93922989G>A | CA462118086 | PDP1 | c.930G>A (p.Leu310=) c.1005G>A (p.Leu335=) c.984G>A (p.Leu328=) c.1092G>A (p.Leu364=) | gnomAD v4 |
8 | g.93922989G>C | CA462118087 | PDP1 | c.930G>C (p.Leu310=) c.1005G>C (p.Leu335=) c.984G>C (p.Leu328=) c.1092G>C (p.Leu364=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93922989G= | CA1803280809 | PDP1 | c.930G= (p.Leu310=) c.1005G= (p.Leu335=) c.984G= (p.Leu328=) c.1092G= (p.Leu364=) | |
8 | g.93922989G>T | CA462118089 | PDP1 | c.930G>T (p.Leu310=) c.1005G>T (p.Leu335=) c.984G>T (p.Leu328=) c.1092G>T (p.Leu364=) | |
8 | g.93922990T>A | CA371694767 | PDP1 | c.931T>A (p.Ser311Thr) c.1006T>A (p.Ser336Thr) c.985T>A (p.Ser329Thr) c.1093T>A (p.Ser365Thr) | |
8 | g.93922990T>C | CA371694768 | PDP1 | c.931T>C (p.Ser311Pro) c.1006T>C (p.Ser336Pro) c.985T>C (p.Ser329Pro) c.1093T>C (p.Ser365Pro) | |
8 | g.93922990T>G | CA371694769 | PDP1 | c.931T>G (p.Ser311Ala) c.1006T>G (p.Ser336Ala) c.985T>G (p.Ser329Ala) c.1093T>G (p.Ser365Ala) | |
8 | g.93922991C>A | CA371694770 | PDP1 | c.932C>A (p.Ser311Tyr) c.1007C>A (p.Ser336Tyr) c.986C>A (p.Ser329Tyr) c.1094C>A (p.Ser365Tyr) | |
8 | g.93922991C>G | CA371694771 | PDP1 | c.932C>G (p.Ser311Cys) c.1007C>G (p.Ser336Cys) c.986C>G (p.Ser329Cys) c.1094C>G (p.Ser365Cys) | |
8 | g.93922991C>T | CA371694773 | PDP1 | c.932C>T (p.Ser311Phe) c.1007C>T (p.Ser336Phe) c.986C>T (p.Ser329Phe) c.1094C>T (p.Ser365Phe) | |
8 | g.93922992T>A | CA462118093 | PDP1 | c.933T>A (p.Ser311=) c.1008T>A (p.Ser336=) c.987T>A (p.Ser329=) c.1095T>A (p.Ser365=) | |
8 | g.93922992T>C | CA462118094 | PDP1 | c.933T>C (p.Ser311=) c.1008T>C (p.Ser336=) c.987T>C (p.Ser329=) c.1095T>C (p.Ser365=) | |
8 | g.93922992T>G | CA462118095 | PDP1 | c.933T>G (p.Ser311=) c.1008T>G (p.Ser336=) c.987T>G (p.Ser329=) c.1095T>G (p.Ser365=) | |
8 | g.93922993A= | CA1803280810 | PDP1 | c.934A= (p.Asn312=) c.1009A= (p.Asn337=) c.988A= (p.Asn330=) c.1096A= (p.Asn366=) | |
8 | g.93922993A>C | CA371694777 | PDP1 | c.934A>C (p.Asn312His) c.1009A>C (p.Asn337His) c.988A>C (p.Asn330His) c.1096A>C (p.Asn366His) | |
8 | g.93922993A>G | CA371694775 | PDP1 | c.934A>G (p.Asn312Asp) c.1009A>G (p.Asn337Asp) c.988A>G (p.Asn330Asp) c.1096A>G (p.Asn366Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93922993A>T | CA371694776 | PDP1 | c.934A>T (p.Asn312Tyr) c.1009A>T (p.Asn337Tyr) c.988A>T (p.Asn330Tyr) c.1096A>T (p.Asn366Tyr) | |
8 | g.93922994A= | CA1803280811 | PDP1 | c.935A= (p.Asn312=) c.1010A= (p.Asn337=) c.989A= (p.Asn330=) c.1097A= (p.Asn366=) | |
8 | g.93922994A>C | CA181375834 | PDP1 | c.935A>C (p.Asn312Thr) c.1010A>C (p.Asn337Thr) c.989A>C (p.Asn330Thr) c.1097A>C (p.Asn366Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922994A>G | CA371694778 | PDP1 | c.935A>G (p.Asn312Ser) c.1010A>G (p.Asn337Ser) c.989A>G (p.Asn330Ser) c.1097A>G (p.Asn366Ser) | dbSNP gnomAD v2 |
8 | g.93922994A>T | CA371694779 | PDP1 | c.935A>T (p.Asn312Ile) c.1010A>T (p.Asn337Ile) c.989A>T (p.Asn330Ile) c.1097A>T (p.Asn366Ile) | |
8 | g.93922995T>A | CA371694781 | PDP1 | c.936T>A (p.Asn312Lys) c.1011T>A (p.Asn337Lys) c.990T>A (p.Asn330Lys) c.1098T>A (p.Asn366Lys) | |
8 | g.93922995T>C | CA462118101 | PDP1 | c.936T>C (p.Asn312=) c.1011T>C (p.Asn337=) c.990T>C (p.Asn330=) c.1098T>C (p.Asn366=) | |
8 | g.93922995T>G | CA371694782 | PDP1 | c.936T>G (p.Asn312Lys) c.1011T>G (p.Asn337Lys) c.990T>G (p.Asn330Lys) c.1098T>G (p.Asn366Lys) | |
8 | g.93922996G>A | CA4808762 | PDP1 | c.937G>A (p.Asp313Asn) c.1012G>A (p.Asp338Asn) c.991G>A (p.Asp331Asn) c.1099G>A (p.Asp367Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93922996G>C | CA371694786 | PDP1 | c.937G>C (p.Asp313His) c.1012G>C (p.Asp338His) c.991G>C (p.Asp331His) c.1099G>C (p.Asp367His) | |
8 | g.93922996G= | CA1803280812 | PDP1 | c.937G= (p.Asp313=) c.1012G= (p.Asp338=) c.991G= (p.Asp331=) c.1099G= (p.Asp367=) | |
8 | g.93922996G>T | CA371694784 | PDP1 | c.937G>T (p.Asp313Tyr) c.1012G>T (p.Asp338Tyr) c.991G>T (p.Asp331Tyr) c.1099G>T (p.Asp367Tyr) | |
8 | g.93922997A>C | CA371694788 | PDP1 | c.938A>C (p.Asp313Ala) c.1013A>C (p.Asp338Ala) c.992A>C (p.Asp331Ala) c.1100A>C (p.Asp367Ala) | |
8 | g.93922997A>G | CA371694792 | PDP1 | c.938A>G (p.Asp313Gly) c.1013A>G (p.Asp338Gly) c.992A>G (p.Asp331Gly) c.1100A>G (p.Asp367Gly) | |
8 | g.93922997A>T | CA371694790 | PDP1 | c.938A>T (p.Asp313Val) c.1013A>T (p.Asp338Val) c.992A>T (p.Asp331Val) c.1100A>T (p.Asp367Val) | |
8 | g.93922998C>A | CA371694794 | PDP1 | c.939C>A (p.Asp313Glu) c.1014C>A (p.Asp338Glu) c.993C>A (p.Asp331Glu) c.1101C>A (p.Asp367Glu) | |
8 | g.93922998C>G | CA371694795 | PDP1 | c.939C>G (p.Asp313Glu) c.1014C>G (p.Asp338Glu) c.993C>G (p.Asp331Glu) c.1101C>G (p.Asp367Glu) | |
8 | g.93922998C>T | CA462118107 | PDP1 | c.939C>T (p.Asp313=) c.1014C>T (p.Asp338=) c.993C>T (p.Asp331=) c.1101C>T (p.Asp367=) | gnomAD v4 |
8 | g.93922999C>A | CA371694797 | PDP1 | c.940C>A (p.His314Asn) c.1015C>A (p.His339Asn) c.994C>A (p.His332Asn) c.1102C>A (p.His368Asn) | |
8 | g.93922999C>G | CA371694799 | PDP1 | c.940C>G (p.His314Asp) c.1015C>G (p.His339Asp) c.994C>G (p.His332Asp) c.1102C>G (p.His368Asp) | |
8 | g.93922999C>T | CA371694800 | PDP1 | c.940C>T (p.His314Tyr) c.1015C>T (p.His339Tyr) c.994C>T (p.His332Tyr) c.1102C>T (p.His368Tyr) | |
8 | g.93923000A>C | CA371694802 | PDP1 | c.941A>C (p.His314Pro) c.1016A>C (p.His339Pro) c.995A>C (p.His332Pro) c.1103A>C (p.His368Pro) | |
8 | g.93923000A>G | CA371694803 | PDP1 | c.941A>G (p.His314Arg) c.1016A>G (p.His339Arg) c.995A>G (p.His332Arg) c.1103A>G (p.His368Arg) | |
8 | g.93923000A>T | CA371694804 | PDP1 | c.941A>T (p.His314Leu) c.1016A>T (p.His339Leu) c.995A>T (p.His332Leu) c.1103A>T (p.His368Leu) | |
8 | g.93923001C>A | CA371694805 | PDP1 | c.942C>A (p.His314Gln) c.1017C>A (p.His339Gln) c.996C>A (p.His332Gln) c.1104C>A (p.His368Gln) | |
8 | g.93923001C>G | CA371694807 | PDP1 | c.942C>G (p.His314Gln) c.1017C>G (p.His339Gln) c.996C>G (p.His332Gln) c.1104C>G (p.His368Gln) | |
8 | g.93923001C>T | CA462118110 | PDP1 | c.942C>T (p.His314=) c.1017C>T (p.His339=) c.996C>T (p.His332=) c.1104C>T (p.His368=) | |
8 | g.93923002A>C | CA371694811 | PDP1 | c.943A>C (p.Asn315His) c.1018A>C (p.Asn340His) c.997A>C (p.Asn333His) c.1105A>C (p.Asn369His) | |
8 | g.93923002A>G | CA371694814 | PDP1 | c.943A>G (p.Asn315Asp) c.1018A>G (p.Asn340Asp) c.997A>G (p.Asn333Asp) c.1105A>G (p.Asn369Asp) | |
8 | g.93923002A>T | CA371694816 | PDP1 | c.943A>T (p.Asn315Tyr) c.1018A>T (p.Asn340Tyr) c.997A>T (p.Asn333Tyr) c.1105A>T (p.Asn369Tyr) | |
8 | g.93923003A= | CA1803280813 | PDP1 | c.944A= (p.Asn315=) c.1019A= (p.Asn340=) c.998A= (p.Asn333=) c.1106A= (p.Asn369=) | |
8 | g.93923003A>C | CA371694818 | PDP1 | c.944A>C (p.Asn315Thr) c.1019A>C (p.Asn340Thr) c.998A>C (p.Asn333Thr) c.1106A>C (p.Asn369Thr) | |
8 | g.93923003A>G | CA4808763 | PDP1 | c.944A>G (p.Asn315Ser) c.1019A>G (p.Asn340Ser) c.998A>G (p.Asn333Ser) c.1106A>G (p.Asn369Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923003A>T | CA371694821 | PDP1 | c.944A>T (p.Asn315Ile) c.1019A>T (p.Asn340Ile) c.998A>T (p.Asn333Ile) c.1106A>T (p.Asn369Ile) | |
8 | g.93923004T>A | CA371694822 | PDP1 | c.945T>A (p.Asn315Lys) c.1020T>A (p.Asn340Lys) c.999T>A (p.Asn333Lys) c.1107T>A (p.Asn369Lys) | |
8 | g.93923004T>C | CA462117822 | PDP1 | c.945T>C (p.Asn315=) c.1020T>C (p.Asn340=) c.999T>C (p.Asn333=) c.1107T>C (p.Asn369=) | |
8 | g.93923004T>G | CA371694823 | PDP1 | c.945T>G (p.Asn315Lys) c.1020T>G (p.Asn340Lys) c.999T>G (p.Asn333Lys) c.1107T>G (p.Asn369Lys) | |
8 | g.93923005G>A | CA371694825 | PDP1 | c.946G>A (p.Ala316Thr) c.1021G>A (p.Ala341Thr) c.1000G>A (p.Ala334Thr) c.1108G>A (p.Ala370Thr) | |
8 | g.93923005G>C | CA371694827 | PDP1 | c.946G>C (p.Ala316Pro) c.1021G>C (p.Ala341Pro) c.1000G>C (p.Ala334Pro) c.1108G>C (p.Ala370Pro) | gnomAD v4 |
8 | g.93923005G>T | CA371694829 | PDP1 | c.946G>T (p.Ala316Ser) c.1021G>T (p.Ala341Ser) c.1000G>T (p.Ala334Ser) c.1108G>T (p.Ala370Ser) | gnomAD v4 |
8 | g.93923006C>A | CA371694830 | PDP1 | c.947C>A (p.Ala316Asp) c.1022C>A (p.Ala341Asp) c.1001C>A (p.Ala334Asp) c.1109C>A (p.Ala370Asp) | |
8 | g.93923006C>G | CA371694832 | PDP1 | c.947C>G (p.Ala316Gly) c.1022C>G (p.Ala341Gly) c.1001C>G (p.Ala334Gly) c.1109C>G (p.Ala370Gly) | |
8 | g.93923006C>T | CA371694833 | PDP1 | c.947C>T (p.Ala316Val) c.1022C>T (p.Ala341Val) c.1001C>T (p.Ala334Val) c.1109C>T (p.Ala370Val) | gnomAD v4 |
8 | g.93923007T>A | CA462117826 | PDP1 | c.948T>A (p.Ala316=) c.1023T>A (p.Ala341=) c.1002T>A (p.Ala334=) c.1110T>A (p.Ala370=) | |
8 | g.93923007T>C | CA462117824 | PDP1 | c.948T>C (p.Ala316=) c.1023T>C (p.Ala341=) c.1002T>C (p.Ala334=) c.1110T>C (p.Ala370=) | |
8 | g.93923007T>G | CA462117825 | PDP1 | c.948T>G (p.Ala316=) c.1023T>G (p.Ala341=) c.1002T>G (p.Ala334=) c.1110T>G (p.Ala370=) | |
8 | g.93923008C>A | CA371694835 | PDP1 | c.949C>A (p.Gln317Lys) c.1024C>A (p.Gln342Lys) c.1003C>A (p.Gln335Lys) c.1111C>A (p.Gln371Lys) | |
8 | g.93923008C>G | CA371694837 | PDP1 | c.949C>G (p.Gln317Glu) c.1024C>G (p.Gln342Glu) c.1003C>G (p.Gln335Glu) c.1111C>G (p.Gln371Glu) | |
8 | g.93923008C>T | CA371694839 | PDP1 | c.949C>T (p.Gln317Ter) c.1024C>T (p.Gln342Ter) c.1003C>T (p.Gln335Ter) c.1111C>T (p.Gln371Ter) | COSMIC COSMIC |
8 | g.93923009A>C | CA371694841 | PDP1 | c.950A>C (p.Gln317Pro) c.1025A>C (p.Gln342Pro) c.1004A>C (p.Gln335Pro) c.1112A>C (p.Gln371Pro) | |
8 | g.93923009A>G | CA371694843 | PDP1 | c.950A>G (p.Gln317Arg) c.1025A>G (p.Gln342Arg) c.1004A>G (p.Gln335Arg) c.1112A>G (p.Gln371Arg) | |
8 | g.93923009A>T | CA371694845 | PDP1 | c.950A>T (p.Gln317Leu) c.1025A>T (p.Gln342Leu) c.1004A>T (p.Gln335Leu) c.1112A>T (p.Gln371Leu) | |
8 | g.93923010A= | CA1803280814 | PDP1 | c.951A= (p.Gln317=) c.1026A= (p.Gln342=) c.1005A= (p.Gln335=) c.1113A= (p.Gln371=) | |
8 | g.93923010A>C | CA371694847 | PDP1 | c.951A>C (p.Gln317His) c.1026A>C (p.Gln342His) c.1005A>C (p.Gln335His) c.1113A>C (p.Gln371His) | dbSNP gnomAD v2 |
8 | g.93923010A>G | CA4808764 | PDP1 | c.951A>G (p.Gln317=) c.1026A>G (p.Gln342=) c.1005A>G (p.Gln335=) c.1113A>G (p.Gln371=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923010A>T | CA371694849 | PDP1 | c.951A>T (p.Gln317His) c.1026A>T (p.Gln342His) c.1005A>T (p.Gln335His) c.1113A>T (p.Gln371His) | COSMIC COSMIC |
8 | g.93923011A>C | CA371694852 | PDP1 | c.952A>C (p.Asn318His) c.1027A>C (p.Asn343His) c.1006A>C (p.Asn336His) c.1114A>C (p.Asn372His) | gnomAD v4 |
8 | g.93923011A>G | CA371694854 | PDP1 | c.952A>G (p.Asn318Asp) c.1027A>G (p.Asn343Asp) c.1006A>G (p.Asn336Asp) c.1114A>G (p.Asn372Asp) | |
8 | g.93923011A>T | CA371694855 | PDP1 | c.952A>T (p.Asn318Tyr) c.1027A>T (p.Asn343Tyr) c.1006A>T (p.Asn336Tyr) c.1114A>T (p.Asn372Tyr) | |
8 | g.93923012A>C | CA371694858 | PDP1 | c.953A>C (p.Asn318Thr) c.1028A>C (p.Asn343Thr) c.1007A>C (p.Asn336Thr) c.1115A>C (p.Asn372Thr) | |
8 | g.93923012A>G | CA371694860 | PDP1 | c.953A>G (p.Asn318Ser) c.1028A>G (p.Asn343Ser) c.1007A>G (p.Asn336Ser) c.1115A>G (p.Asn372Ser) | gnomAD v4 |
8 | g.93923012A>T | CA371694861 | PDP1 | c.953A>T (p.Asn318Ile) c.1028A>T (p.Asn343Ile) c.1007A>T (p.Asn336Ile) c.1115A>T (p.Asn372Ile) | |
8 | g.93923013T>A | CA371694863 | PDP1 | c.954T>A (p.Asn318Lys) c.1029T>A (p.Asn343Lys) c.1008T>A (p.Asn336Lys) c.1116T>A (p.Asn372Lys) | |
8 | g.93923013T>C | CA462117828 | PDP1 | c.954T>C (p.Asn318=) c.1029T>C (p.Asn343=) c.1008T>C (p.Asn336=) c.1116T>C (p.Asn372=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923013T>G | CA371694864 | PDP1 | c.954T>G (p.Asn318Lys) c.1029T>G (p.Asn343Lys) c.1008T>G (p.Asn336Lys) c.1116T>G (p.Asn372Lys) | |
8 | g.93923013T= | CA1803280815 | PDP1 | c.954T= (p.Asn318=) c.1029T= (p.Asn343=) c.1008T= (p.Asn336=) c.1116T= (p.Asn372=) | |
8 | g.93923014G>A | CA371694866 | PDP1 | c.955G>A (p.Glu319Lys) c.1030G>A (p.Glu344Lys) c.1009G>A (p.Glu337Lys) c.1117G>A (p.Glu373Lys) | gnomAD v4 |
8 | g.93923014G>C | CA371694868 | PDP1 | c.955G>C (p.Glu319Gln) c.1030G>C (p.Glu344Gln) c.1009G>C (p.Glu337Gln) c.1117G>C (p.Glu373Gln) | |
8 | g.93923014G>T | CA371694869 | PDP1 | c.955G>T (p.Glu319Ter) c.1030G>T (p.Glu344Ter) c.1009G>T (p.Glu337Ter) c.1117G>T (p.Glu373Ter) | |
8 | g.93923015A>C | CA371694874 | PDP1 | c.956A>C (p.Glu319Ala) c.1031A>C (p.Glu344Ala) c.1010A>C (p.Glu337Ala) c.1118A>C (p.Glu373Ala) | |
8 | g.93923015A>G | CA371694872 | PDP1 | c.956A>G (p.Glu319Gly) c.1031A>G (p.Glu344Gly) c.1010A>G (p.Glu337Gly) c.1118A>G (p.Glu373Gly) | |
8 | g.93923015A>T | CA371694871 | PDP1 | c.956A>T (p.Glu319Val) c.1031A>T (p.Glu344Val) c.1010A>T (p.Glu337Val) c.1118A>T (p.Glu373Val) | |
8 | g.93923016A= | CA1803280816 | PDP1 | c.957A= (p.Glu319=) c.1032A= (p.Glu344=) c.1011A= (p.Glu337=) c.1119A= (p.Glu373=) | |
8 | g.93923016A>C | CA371694876 | PDP1 | c.957A>C (p.Glu319Asp) c.1032A>C (p.Glu344Asp) c.1011A>C (p.Glu337Asp) c.1119A>C (p.Glu373Asp) | |
8 | g.93923016A>G | CA462117829 | PDP1 | c.957A>G (p.Glu319=) c.1032A>G (p.Glu344=) c.1011A>G (p.Glu337=) c.1119A>G (p.Glu373=) | gnomAD v4 |
8 | g.93923016A>T | CA371694878 | PDP1 | c.957A>T (p.Glu319Asp) c.1032A>T (p.Glu344Asp) c.1011A>T (p.Glu337Asp) c.1119A>T (p.Glu373Asp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923017A>C | CA462117830 | PDP1 | c.958A>C (p.Arg320=) c.1033A>C (p.Arg345=) c.1012A>C (p.Arg338=) c.1120A>C (p.Arg374=) | |
8 | g.93923017A>G | CA371694879 | PDP1 | c.958A>G (p.Arg320Gly) c.1033A>G (p.Arg345Gly) c.1012A>G (p.Arg338Gly) c.1120A>G (p.Arg374Gly) | |
8 | g.93923017A>T | CA371694881 | PDP1 | c.958A>T (p.Arg320Ter) c.1033A>T (p.Arg345Ter) c.1012A>T (p.Arg338Ter) c.1120A>T (p.Arg374Ter) | |
8 | g.93923020_93923021del | CA2579206331 | PDP1 | c.961_962del (p.Glu321ThrfsTer12) c.1036_1037del (p.Glu346ThrfsTer12) c.1015_1016del (p.Glu339ThrfsTer12) c.1123_1124del (p.Glu375ThrfsTer12) | gnomAD v4 |
8 | g.93923018G>A | CA371694883 | PDP1 | c.959G>A (p.Arg320Lys) c.1034G>A (p.Arg345Lys) c.1013G>A (p.Arg338Lys) c.1121G>A (p.Arg374Lys) | gnomAD v4 |
8 | g.93923018G>C | CA181375850 | PDP1 | c.959G>C (p.Arg320Thr) c.1034G>C (p.Arg345Thr) c.1013G>C (p.Arg338Thr) c.1121G>C (p.Arg374Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923018G= | CA1803280817 | PDP1 | c.959G= (p.Arg320=) c.1034G= (p.Arg345=) c.1013G= (p.Arg338=) c.1121G= (p.Arg374=) | |
8 | g.93923018G>T | CA371694886 | PDP1 | c.959G>T (p.Arg320Ile) c.1034G>T (p.Arg345Ile) c.1013G>T (p.Arg338Ile) c.1121G>T (p.Arg374Ile) | |
8 | g.93923019A>C | CA371694889 | PDP1 | c.960A>C (p.Arg320Ser) c.1035A>C (p.Arg345Ser) c.1014A>C (p.Arg338Ser) c.1122A>C (p.Arg374Ser) | |
8 | g.93923019A>G | CA462117832 | PDP1 | c.960A>G (p.Arg320=) c.1035A>G (p.Arg345=) c.1014A>G (p.Arg338=) c.1122A>G (p.Arg374=) | |
8 | g.93923019A>T | CA371694890 | PDP1 | c.960A>T (p.Arg320Ser) c.1035A>T (p.Arg345Ser) c.1014A>T (p.Arg338Ser) c.1122A>T (p.Arg374Ser) | |
8 | g.93923020G>A | CA371694892 | PDP1 | c.961G>A (p.Glu321Lys) c.1036G>A (p.Glu346Lys) c.1015G>A (p.Glu339Lys) c.1123G>A (p.Glu375Lys) | |
8 | g.93923020G>C | CA371694893 | PDP1 | c.961G>C (p.Glu321Gln) c.1036G>C (p.Glu346Gln) c.1015G>C (p.Glu339Gln) c.1123G>C (p.Glu375Gln) | gnomAD v4 |
8 | g.93923020G>T | CA371694895 | PDP1 | c.961G>T (p.Glu321Ter) c.1036G>T (p.Glu346Ter) c.1015G>T (p.Glu339Ter) c.1123G>T (p.Glu375Ter) | COSMIC COSMIC |
8 | g.93923021A>C | CA371694897 | PDP1 | c.962A>C (p.Glu321Ala) c.1037A>C (p.Glu346Ala) c.1016A>C (p.Glu339Ala) c.1124A>C (p.Glu375Ala) | |
8 | g.93923021A>G | CA371694899 | PDP1 | c.962A>G (p.Glu321Gly) c.1037A>G (p.Glu346Gly) c.1016A>G (p.Glu339Gly) c.1124A>G (p.Glu375Gly) | |
8 | g.93923021A>T | CA371694896 | PDP1 | c.962A>T (p.Glu321Val) c.1037A>T (p.Glu346Val) c.1016A>T (p.Glu339Val) c.1124A>T (p.Glu375Val) | |
8 | g.93923022A= | CA1803280818 | PDP1 | c.963A= (p.Glu321=) c.1038A= (p.Glu346=) c.1017A= (p.Glu339=) c.1125A= (p.Glu375=) | |
8 | g.93923022A>C | CA371694904 | PDP1 | c.963A>C (p.Glu321Asp) c.1038A>C (p.Glu346Asp) c.1017A>C (p.Glu339Asp) c.1125A>C (p.Glu375Asp) | |
8 | g.93923022A>G | CA462117834 | PDP1 | c.963A>G (p.Glu321=) c.1038A>G (p.Glu346=) c.1017A>G (p.Glu339=) c.1125A>G (p.Glu375=) | dbSNP COSMIC COSMIC |
8 | g.93923022A>T | CA371694903 | PDP1 | c.963A>T (p.Glu321Asp) c.1038A>T (p.Glu346Asp) c.1017A>T (p.Glu339Asp) c.1125A>T (p.Glu375Asp) | |
8 | g.93923023C>A | CA371694908 | PDP1 | c.964C>A (p.Leu322Ile) c.1039C>A (p.Leu347Ile) c.1018C>A (p.Leu340Ile) c.1126C>A (p.Leu376Ile) | |
8 | g.93923023C>G | CA371694909 | PDP1 | c.964C>G (p.Leu322Val) c.1039C>G (p.Leu347Val) c.1018C>G (p.Leu340Val) c.1126C>G (p.Leu376Val) | |
8 | g.93923023C>T | CA462117835 | PDP1 | c.964C>T (p.Leu322=) c.1039C>T (p.Leu347=) c.1018C>T (p.Leu340=) c.1126C>T (p.Leu376=) | gnomAD v4 |
8 | g.93923024T>A | CA371694911 | PDP1 | c.965T>A (p.Leu322Gln) c.1040T>A (p.Leu347Gln) c.1019T>A (p.Leu340Gln) c.1127T>A (p.Leu376Gln) | |
8 | g.93923024T>C | CA371694912 | PDP1 | c.965T>C (p.Leu322Pro) c.1040T>C (p.Leu347Pro) c.1019T>C (p.Leu340Pro) c.1127T>C (p.Leu376Pro) | |
8 | g.93923024T>G | CA371694914 | PDP1 | c.965T>G (p.Leu322Arg) c.1040T>G (p.Leu347Arg) c.1019T>G (p.Leu340Arg) c.1127T>G (p.Leu376Arg) | |
8 | g.93923025A= | CA1803280819 | PDP1 | c.966A= (p.Leu322=) c.1041A= (p.Leu347=) c.1020A= (p.Leu340=) c.1128A= (p.Leu376=) | |
8 | g.93923025A>C | CA462117840 | PDP1 | c.966A>C (p.Leu322=) c.1041A>C (p.Leu347=) c.1020A>C (p.Leu340=) c.1128A>C (p.Leu376=) | |
8 | g.93923025A>G | CA462117841 | PDP1 | c.966A>G (p.Leu322=) c.1041A>G (p.Leu347=) c.1020A>G (p.Leu340=) c.1128A>G (p.Leu376=) | dbSNP gnomAD v4 |
8 | g.93923025A>T | CA462117842 | PDP1 | c.966A>T (p.Leu322=) c.1041A>T (p.Leu347=) c.1020A>T (p.Leu340=) c.1128A>T (p.Leu376=) | |
8 | g.93923026G>A | CA4808765 | PDP1 | c.967G>A (p.Glu323Lys) c.1042G>A (p.Glu348Lys) c.1021G>A (p.Glu341Lys) c.1129G>A (p.Glu377Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923026G>C | CA181375865 | PDP1 | c.967G>C (p.Glu323Gln) c.1042G>C (p.Glu348Gln) c.1021G>C (p.Glu341Gln) c.1129G>C (p.Glu377Gln) | dbSNP gnomAD v4 |
8 | g.93923026G= | CA1803280820 | PDP1 | c.967G= (p.Glu323=) c.1042G= (p.Glu348=) c.1021G= (p.Glu341=) c.1129G= (p.Glu377=) | |
8 | g.93923026G>T | CA371694921 | PDP1 | c.967G>T (p.Glu323Ter) c.1042G>T (p.Glu348Ter) c.1021G>T (p.Glu341Ter) c.1129G>T (p.Glu377Ter) | |
8 | g.93923027A>C | CA371694923 | PDP1 | c.968A>C (p.Glu323Ala) c.1043A>C (p.Glu348Ala) c.1022A>C (p.Glu341Ala) c.1130A>C (p.Glu377Ala) | |
8 | g.93923027A>G | CA371694924 | PDP1 | c.968A>G (p.Glu323Gly) c.1043A>G (p.Glu348Gly) c.1022A>G (p.Glu341Gly) c.1130A>G (p.Glu377Gly) | |
8 | g.93923027A>T | CA371694925 | PDP1 | c.968A>T (p.Glu323Val) c.1043A>T (p.Glu348Val) c.1022A>T (p.Glu341Val) c.1130A>T (p.Glu377Val) | |
8 | g.93923028A>C | CA371694928 | PDP1 | c.969A>C (p.Glu323Asp) c.1044A>C (p.Glu348Asp) c.1023A>C (p.Glu341Asp) c.1131A>C (p.Glu377Asp) | |
8 | g.93923028A>G | CA462117844 | PDP1 | c.969A>G (p.Glu323=) c.1044A>G (p.Glu348=) c.1023A>G (p.Glu341=) c.1131A>G (p.Glu377=) | |
8 | g.93923028A>T | CA371694927 | PDP1 | c.969A>T (p.Glu323Asp) c.1044A>T (p.Glu348Asp) c.1023A>T (p.Glu341Asp) c.1131A>T (p.Glu377Asp) | |
8 | g.93923029C>A | CA462117845 | PDP1 | c.970C>A (p.Arg324=) c.1045C>A (p.Arg349=) c.1024C>A (p.Arg342=) c.1132C>A (p.Arg378=) | |
8 | g.93923029C= | CA1803280821 | PDP1 | c.970C= (p.Arg324=) c.1045C= (p.Arg349=) c.1024C= (p.Arg342=) c.1132C= (p.Arg378=) | |
8 | g.93923029C>G | CA371694930 | PDP1 | c.970C>G (p.Arg324Gly) c.1045C>G (p.Arg349Gly) c.1024C>G (p.Arg342Gly) c.1132C>G (p.Arg378Gly) | |
8 | g.93923029C>T | CA371694931 | PDP1 | c.970C>T (p.Arg324Trp) c.1045C>T (p.Arg349Trp) c.1024C>T (p.Arg342Trp) c.1132C>T (p.Arg378Trp) | ClinVar dbSNP gnomAD v4 |
8 | g.93923030G>A | CA4808766 | PDP1 | c.971G>A (p.Arg324Gln) c.1046G>A (p.Arg349Gln) c.1025G>A (p.Arg342Gln) c.1133G>A (p.Arg378Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923030G>C | CA371694935 | PDP1 | c.971G>C (p.Arg324Pro) c.1046G>C (p.Arg349Pro) c.1025G>C (p.Arg342Pro) c.1133G>C (p.Arg378Pro) | |
8 | g.93923030G= | CA1803280822 | PDP1 | c.971G= (p.Arg324=) c.1046G= (p.Arg349=) c.1025G= (p.Arg342=) c.1133G= (p.Arg378=) | |
8 | g.93923030G>T | CA371694937 | PDP1 | c.971G>T (p.Arg324Leu) c.1046G>T (p.Arg349Leu) c.1025G>T (p.Arg342Leu) c.1133G>T (p.Arg378Leu) | |
8 | g.93923031G>A | CA462117846 | PDP1 | c.972G>A (p.Arg324=) c.1047G>A (p.Arg349=) c.1026G>A (p.Arg342=) c.1134G>A (p.Arg378=) | dbSNP |
8 | g.93923031G>C | CA462117847 | PDP1 | c.972G>C (p.Arg324=) c.1047G>C (p.Arg349=) c.1026G>C (p.Arg342=) c.1134G>C (p.Arg378=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923031G= | CA1803280823 | PDP1 | c.972G= (p.Arg324=) c.1047G= (p.Arg349=) c.1026G= (p.Arg342=) c.1134G= (p.Arg378=) | |
8 | g.93923031G>T | CA462117848 | PDP1 | c.972G>T (p.Arg324=) c.1047G>T (p.Arg349=) c.1026G>T (p.Arg342=) c.1134G>T (p.Arg378=) | gnomAD v4 |
8 | g.93923032C>A | CA371694939 | PDP1 | c.973C>A (p.Leu325Met) c.1048C>A (p.Leu350Met) c.1027C>A (p.Leu343Met) c.1135C>A (p.Leu379Met) | |
8 | g.93923032C>G | CA371694941 | PDP1 | c.973C>G (p.Leu325Val) c.1048C>G (p.Leu350Val) c.1027C>G (p.Leu343Val) c.1135C>G (p.Leu379Val) | |
8 | g.93923032C>T | CA462117849 | PDP1 | c.973C>T (p.Leu325=) c.1048C>T (p.Leu350=) c.1027C>T (p.Leu343=) c.1135C>T (p.Leu379=) | |
8 | g.93923033T>A | CA371694944 | PDP1 | c.974T>A (p.Leu325Gln) c.1049T>A (p.Leu350Gln) c.1028T>A (p.Leu343Gln) c.1136T>A (p.Leu379Gln) | |
8 | g.93923033T>C | CA371694946 | PDP1 | c.974T>C (p.Leu325Pro) c.1049T>C (p.Leu350Pro) c.1028T>C (p.Leu343Pro) c.1136T>C (p.Leu379Pro) | gnomAD v4 |
8 | g.93923033T>G | CA371694948 | PDP1 | c.974T>G (p.Leu325Arg) c.1049T>G (p.Leu350Arg) c.1028T>G (p.Leu343Arg) c.1136T>G (p.Leu379Arg) | |
8 | g.93923034G>A | CA462117852 | PDP1 | c.975G>A (p.Leu325=) c.1050G>A (p.Leu350=) c.1029G>A (p.Leu343=) c.1137G>A (p.Leu379=) | |
8 | g.93923034G>C | CA462117853 | PDP1 | c.975G>C (p.Leu325=) c.1050G>C (p.Leu350=) c.1029G>C (p.Leu343=) c.1137G>C (p.Leu379=) | |
8 | g.93923034G>T | CA462117851 | PDP1 | c.975G>T (p.Leu325=) c.1050G>T (p.Leu350=) c.1029G>T (p.Leu343=) c.1137G>T (p.Leu379=) | |
8 | g.93923035A= | CA1803280824 | PDP1 | c.976A= (p.Lys326=) c.1051A= (p.Lys351=) c.1030A= (p.Lys344=) c.1138A= (p.Lys380=) | |
8 | g.93923035A>C | CA371694949 | PDP1 | c.976A>C (p.Lys326Gln) c.1051A>C (p.Lys351Gln) c.1030A>C (p.Lys344Gln) c.1138A>C (p.Lys380Gln) | |
8 | g.93923035A>G | CA181375878 | PDP1 | c.976A>G (p.Lys326Glu) c.1051A>G (p.Lys351Glu) c.1030A>G (p.Lys344Glu) c.1138A>G (p.Lys380Glu) | dbSNP |
8 | g.93923035A>T | CA371694952 | PDP1 | c.976A>T (p.Lys326Ter) c.1051A>T (p.Lys351Ter) c.1030A>T (p.Lys344Ter) c.1138A>T (p.Lys380Ter) | |
8 | g.93923036A>C | CA371694956 | PDP1 | c.977A>C (p.Lys326Thr) c.1052A>C (p.Lys351Thr) c.1031A>C (p.Lys344Thr) c.1139A>C (p.Lys380Thr) | |
8 | g.93923036A>G | CA371694958 | PDP1 | c.977A>G (p.Lys326Arg) c.1052A>G (p.Lys351Arg) c.1031A>G (p.Lys344Arg) c.1139A>G (p.Lys380Arg) | gnomAD v4 |
8 | g.93923036A>T | CA371694954 | PDP1 | c.977A>T (p.Lys326Ile) c.1052A>T (p.Lys351Ile) c.1031A>T (p.Lys344Ile) c.1139A>T (p.Lys380Ile) | |
8 | g.93923037A>C | CA371694960 | PDP1 | c.978A>C (p.Lys326Asn) c.1053A>C (p.Lys351Asn) c.1032A>C (p.Lys344Asn) c.1140A>C (p.Lys380Asn) | |
8 | g.93923037A>G | CA462117854 | PDP1 | c.978A>G (p.Lys326=) c.1053A>G (p.Lys351=) c.1032A>G (p.Lys344=) c.1140A>G (p.Lys380=) | |
8 | g.93923037A>T | CA371694962 | PDP1 | c.978A>T (p.Lys326Asn) c.1053A>T (p.Lys351Asn) c.1032A>T (p.Lys344Asn) c.1140A>T (p.Lys380Asn) | |
8 | g.93923038T>A | CA371694964 | PDP1 | c.979T>A (p.Leu327Met) c.1054T>A (p.Leu352Met) c.1033T>A (p.Leu345Met) c.1141T>A (p.Leu381Met) | |
8 | g.93923038T>C | CA4808767 | PDP1 | c.979T>C (p.Leu327=) c.1054T>C (p.Leu352=) c.1033T>C (p.Leu345=) c.1141T>C (p.Leu381=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923038T>G | CA371694966 | PDP1 | c.979T>G (p.Leu327Val) c.1054T>G (p.Leu352Val) c.1033T>G (p.Leu345Val) c.1141T>G (p.Leu381Val) | |
8 | g.93923038T= | CA1803280825 | PDP1 | c.979T= (p.Leu327=) c.1054T= (p.Leu352=) c.1033T= (p.Leu345=) c.1141T= (p.Leu381=) | |
8 | g.93923039T>A | CA371694967 | PDP1 | c.980T>A (p.Leu327Ter) c.1055T>A (p.Leu352Ter) c.1034T>A (p.Leu345Ter) c.1142T>A (p.Leu381Ter) | |
8 | g.93923039T>C | CA371694968 | PDP1 | c.980T>C (p.Leu327Ser) c.1055T>C (p.Leu352Ser) c.1034T>C (p.Leu345Ser) c.1142T>C (p.Leu381Ser) | gnomAD v4 |
8 | g.93923039T>G | CA4808768 | PDP1 | c.980T>G (p.Leu327Trp) c.1055T>G (p.Leu352Trp) c.1034T>G (p.Leu345Trp) c.1142T>G (p.Leu381Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923039T= | CA1803280826 | PDP1 | c.980T= (p.Leu327=) c.1055T= (p.Leu352=) c.1034T= (p.Leu345=) c.1142T= (p.Leu381=) | |
8 | g.93923040G>A | CA462117857 | PDP1 | c.981G>A (p.Leu327=) c.1056G>A (p.Leu352=) c.1035G>A (p.Leu345=) c.1143G>A (p.Leu381=) | dbSNP |
8 | g.93923040G>C | CA371694969 | PDP1 | c.981G>C (p.Leu327Phe) c.1056G>C (p.Leu352Phe) c.1035G>C (p.Leu345Phe) c.1143G>C (p.Leu381Phe) | |
8 | g.93923040G= | CA1803280827 | PDP1 | c.981G= (p.Leu327=) c.1056G= (p.Leu352=) c.1035G= (p.Leu345=) c.1143G= (p.Leu381=) | |
8 | g.93923040G>T | CA371694970 | PDP1 | c.981G>T (p.Leu327Phe) c.1056G>T (p.Leu352Phe) c.1035G>T (p.Leu345Phe) c.1143G>T (p.Leu381Phe) | |
8 | g.93923041G>A | CA371694971 | PDP1 | c.982G>A (p.Glu328Lys) c.1057G>A (p.Glu353Lys) c.1036G>A (p.Glu346Lys) c.1144G>A (p.Glu382Lys) | |
8 | g.93923041G>C | CA371694972 | PDP1 | c.982G>C (p.Glu328Gln) c.1057G>C (p.Glu353Gln) c.1036G>C (p.Glu346Gln) c.1144G>C (p.Glu382Gln) | |
8 | g.93923041G>T | CA371694974 | PDP1 | c.982G>T (p.Glu328Ter) c.1057G>T (p.Glu353Ter) c.1036G>T (p.Glu346Ter) c.1144G>T (p.Glu382Ter) | |
8 | g.93923042A>C | CA371694979 | PDP1 | c.983A>C (p.Glu328Ala) c.1058A>C (p.Glu353Ala) c.1037A>C (p.Glu346Ala) c.1145A>C (p.Glu382Ala) | |
8 | g.93923042A>G | CA371694978 | PDP1 | c.983A>G (p.Glu328Gly) c.1058A>G (p.Glu353Gly) c.1037A>G (p.Glu346Gly) c.1145A>G (p.Glu382Gly) | |
8 | g.93923042A>T | CA371694976 | PDP1 | c.983A>T (p.Glu328Val) c.1058A>T (p.Glu353Val) c.1037A>T (p.Glu346Val) c.1145A>T (p.Glu382Val) | |
8 | g.93923043A>C | CA371694982 | PDP1 | c.984A>C (p.Glu328Asp) c.1059A>C (p.Glu353Asp) c.1038A>C (p.Glu346Asp) c.1146A>C (p.Glu382Asp) | |
8 | g.93923043A>G | CA462117859 | PDP1 | c.984A>G (p.Glu328=) c.1059A>G (p.Glu353=) c.1038A>G (p.Glu346=) c.1146A>G (p.Glu382=) | |
8 | g.93923043A>T | CA371694984 | PDP1 | c.984A>T (p.Glu328Asp) c.1059A>T (p.Glu353Asp) c.1038A>T (p.Glu346Asp) c.1146A>T (p.Glu382Asp) | |
8 | g.93923044C>A | CA371694985 | PDP1 | c.985C>A (p.His329Asn) c.1060C>A (p.His354Asn) c.1039C>A (p.His347Asn) c.1147C>A (p.His383Asn) | |
8 | g.93923044C>G | CA371694986 | PDP1 | c.985C>G (p.His329Asp) c.1060C>G (p.His354Asp) c.1039C>G (p.His347Asp) c.1147C>G (p.His383Asp) | |
8 | g.93923044C>T | CA371694988 | PDP1 | c.985C>T (p.His329Tyr) c.1060C>T (p.His354Tyr) c.1039C>T (p.His347Tyr) c.1147C>T (p.His383Tyr) | |
8 | g.93923045A>C | CA371694990 | PDP1 | c.986A>C (p.His329Pro) c.1061A>C (p.His354Pro) c.1040A>C (p.His347Pro) c.1148A>C (p.His383Pro) | |
8 | g.93923045A>G | CA371694992 | PDP1 | c.986A>G (p.His329Arg) c.1061A>G (p.His354Arg) c.1040A>G (p.His347Arg) c.1148A>G (p.His383Arg) | |
8 | g.93923045A>T | CA371694993 | PDP1 | c.986A>T (p.His329Leu) c.1061A>T (p.His354Leu) c.1040A>T (p.His347Leu) c.1148A>T (p.His383Leu) | |
8 | g.93923046T>A | CA371694995 | PDP1 | c.987T>A (p.His329Gln) c.1062T>A (p.His354Gln) c.1041T>A (p.His347Gln) c.1149T>A (p.His383Gln) | |
8 | g.93923046T>C | CA462117861 | PDP1 | c.987T>C (p.His329=) c.1062T>C (p.His354=) c.1041T>C (p.His347=) c.1149T>C (p.His383=) | gnomAD v4 |
8 | g.93923046T>G | CA371694996 | PDP1 | c.987T>G (p.His329Gln) c.1062T>G (p.His354Gln) c.1041T>G (p.His347Gln) c.1149T>G (p.His383Gln) | |
8 | g.93923047C>A | CA371694997 | PDP1 | c.988C>A (p.Pro330Thr) c.1063C>A (p.Pro355Thr) c.1042C>A (p.Pro348Thr) c.1150C>A (p.Pro384Thr) | |
8 | g.93923047C>G | CA371694998 | PDP1 | c.988C>G (p.Pro330Ala) c.1063C>G (p.Pro355Ala) c.1042C>G (p.Pro348Ala) c.1150C>G (p.Pro384Ala) | gnomAD v4 |
8 | g.93923047C>T | CA371694999 | PDP1 | c.988C>T (p.Pro330Ser) c.1063C>T (p.Pro355Ser) c.1042C>T (p.Pro348Ser) c.1150C>T (p.Pro384Ser) | gnomAD v4 |
8 | g.93923048C>A | CA371695003 | PDP1 | c.989C>A (p.Pro330Gln) c.1064C>A (p.Pro355Gln) c.1043C>A (p.Pro348Gln) c.1151C>A (p.Pro384Gln) | |
8 | g.93923048C= | CA1803280828 | PDP1 | c.989C= (p.Pro330=) c.1064C= (p.Pro355=) c.1043C= (p.Pro348=) c.1151C= (p.Pro384=) | |
8 | g.93923048C>G | CA371695002 | PDP1 | c.989C>G (p.Pro330Arg) c.1064C>G (p.Pro355Arg) c.1043C>G (p.Pro348Arg) c.1151C>G (p.Pro384Arg) | |
8 | g.93923048C>T | CA371695001 | PDP1 | c.989C>T (p.Pro330Leu) c.1064C>T (p.Pro355Leu) c.1043C>T (p.Pro348Leu) c.1151C>T (p.Pro384Leu) | dbSNP gnomAD v4 |
8 | g.93923049A= | CA1803280829 | PDP1 | c.990A= (p.Pro330=) c.1065A= (p.Pro355=) c.1044A= (p.Pro348=) c.1152A= (p.Pro384=) | |
8 | g.93923049A>C | CA462117864 | PDP1 | c.990A>C (p.Pro330=) c.1065A>C (p.Pro355=) c.1044A>C (p.Pro348=) c.1152A>C (p.Pro384=) | |
8 | g.93923049A>G | CA181375898 | PDP1 | c.990A>G (p.Pro330=) c.1065A>G (p.Pro355=) c.1044A>G (p.Pro348=) c.1152A>G (p.Pro384=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923049A>T | CA462117865 | PDP1 | c.990A>T (p.Pro330=) c.1065A>T (p.Pro355=) c.1044A>T (p.Pro348=) c.1152A>T (p.Pro384=) | |
8 | g.93923050A>C | CA371695004 | PDP1 | c.991A>C (p.Lys331Gln) c.1066A>C (p.Lys356Gln) c.1045A>C (p.Lys349Gln) c.1153A>C (p.Lys385Gln) | |
8 | g.93923050A>G | CA371695007 | PDP1 | c.991A>G (p.Lys331Glu) c.1066A>G (p.Lys356Glu) c.1045A>G (p.Lys349Glu) c.1153A>G (p.Lys385Glu) | |
8 | g.93923050A>T | CA371695006 | PDP1 | c.991A>T (p.Lys331Ter) c.1066A>T (p.Lys356Ter) c.1045A>T (p.Lys349Ter) c.1153A>T (p.Lys385Ter) | |
8 | g.93923051A>C | CA371695008 | PDP1 | c.992A>C (p.Lys331Thr) c.1067A>C (p.Lys356Thr) c.1046A>C (p.Lys349Thr) c.1154A>C (p.Lys385Thr) | |
8 | g.93923051A>G | CA371695009 | PDP1 | c.992A>G (p.Lys331Arg) c.1067A>G (p.Lys356Arg) c.1046A>G (p.Lys349Arg) c.1154A>G (p.Lys385Arg) | |
8 | g.93923051A>T | CA371695010 | PDP1 | c.992A>T (p.Lys331Met) c.1067A>T (p.Lys356Met) c.1046A>T (p.Lys349Met) c.1154A>T (p.Lys385Met) | |
8 | g.93923052G>A | CA4808769 | PDP1 | c.993G>A (p.Lys331=) c.1068G>A (p.Lys356=) c.1047G>A (p.Lys349=) c.1155G>A (p.Lys385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923052G>C | CA371695015 | PDP1 | c.993G>C (p.Lys331Asn) c.1068G>C (p.Lys356Asn) c.1047G>C (p.Lys349Asn) c.1155G>C (p.Lys385Asn) | |
8 | g.93923052G= | CA1803280830 | PDP1 | c.993G= (p.Lys331=) c.1068G= (p.Lys356=) c.1047G= (p.Lys349=) c.1155G= (p.Lys385=) | |
8 | g.93923052G>T | CA371695017 | PDP1 | c.993G>T (p.Lys331Asn) c.1068G>T (p.Lys356Asn) c.1047G>T (p.Lys349Asn) c.1155G>T (p.Lys385Asn) | |
8 | g.93923055_93923058del | CA2687927853 | PDP1 | c.996_999del (p.Ser332ArgfsTer6) c.1071_1074del (p.Ser357ArgfsTer6) c.1050_1053del (p.Ser350ArgfsTer6) c.1158_1161del (p.Ser386ArgfsTer6) | gnomAD v4 |
8 | g.93923053A>C | CA371695022 | PDP1 | c.994A>C (p.Ser332Arg) c.1069A>C (p.Ser357Arg) c.1048A>C (p.Ser350Arg) c.1156A>C (p.Ser386Arg) | |
8 | g.93923053A>G | CA371695019 | PDP1 | c.994A>G (p.Ser332Gly) c.1069A>G (p.Ser357Gly) c.1048A>G (p.Ser350Gly) c.1156A>G (p.Ser386Gly) | |
8 | g.93923053A>T | CA371695021 | PDP1 | c.994A>T (p.Ser332Cys) c.1069A>T (p.Ser357Cys) c.1048A>T (p.Ser350Cys) c.1156A>T (p.Ser386Cys) | |
8 | g.93923054G>A | CA181375915 | PDP1 | c.995G>A (p.Ser332Asn) c.1070G>A (p.Ser357Asn) c.1049G>A (p.Ser350Asn) c.1157G>A (p.Ser386Asn) | dbSNP |
8 | g.93923054G>C | CA371695025 | PDP1 | c.995G>C (p.Ser332Thr) c.1070G>C (p.Ser357Thr) c.1049G>C (p.Ser350Thr) c.1157G>C (p.Ser386Thr) | |
8 | g.93923054G= | CA1803280831 | PDP1 | c.995G= (p.Ser332=) c.1070G= (p.Ser357=) c.1049G= (p.Ser350=) c.1157G= (p.Ser386=) | |
8 | g.93923054G>T | CA371695026 | PDP1 | c.995G>T (p.Ser332Ile) c.1070G>T (p.Ser357Ile) c.1049G>T (p.Ser350Ile) c.1157G>T (p.Ser386Ile) | |
8 | g.93923055T>A | CA371695028 | PDP1 | c.996T>A (p.Ser332Arg) c.1071T>A (p.Ser357Arg) c.1050T>A (p.Ser350Arg) c.1158T>A (p.Ser386Arg) | |
8 | g.93923055T>C | CA462117870 | PDP1 | c.996T>C (p.Ser332=) c.1071T>C (p.Ser357=) c.1050T>C (p.Ser350=) c.1158T>C (p.Ser386=) | dbSNP |
8 | g.93923055T>G | CA371695029 | PDP1 | c.996T>G (p.Ser332Arg) c.1071T>G (p.Ser357Arg) c.1050T>G (p.Ser350Arg) c.1158T>G (p.Ser386Arg) | gnomAD v4 |
8 | g.93923056G>A | CA371695038 | PDP1 | c.997G>A (p.Glu333Lys) c.1072G>A (p.Glu358Lys) c.1051G>A (p.Glu351Lys) c.1159G>A (p.Glu387Lys) | gnomAD v4 |
8 | g.93923056G>C | CA371695035 | PDP1 | c.997G>C (p.Glu333Gln) c.1072G>C (p.Glu358Gln) c.1051G>C (p.Glu351Gln) c.1159G>C (p.Glu387Gln) | |
8 | g.93923056G>T | CA371695037 | PDP1 | c.997G>T (p.Glu333Ter) c.1072G>T (p.Glu358Ter) c.1051G>T (p.Glu351Ter) c.1159G>T (p.Glu387Ter) | |
8 | g.93923057A>C | CA371695048 | PDP1 | c.998A>C (p.Glu333Ala) c.1073A>C (p.Glu358Ala) c.1052A>C (p.Glu351Ala) c.1160A>C (p.Glu387Ala) | |
8 | g.93923057A>G | CA371695051 | PDP1 | c.998A>G (p.Glu333Gly) c.1073A>G (p.Glu358Gly) c.1052A>G (p.Glu351Gly) c.1160A>G (p.Glu387Gly) | |
8 | g.93923057A>T | CA371695053 | PDP1 | c.998A>T (p.Glu333Val) c.1073A>T (p.Glu358Val) c.1052A>T (p.Glu351Val) c.1160A>T (p.Glu387Val) | |
8 | g.93923058G>A | CA462117874 | PDP1 | c.999G>A (p.Glu333=) c.1074G>A (p.Glu358=) c.1053G>A (p.Glu351=) c.1161G>A (p.Glu387=) | |
8 | g.93923058G>C | CA371695057 | PDP1 | c.999G>C (p.Glu333Asp) c.1074G>C (p.Glu358Asp) c.1053G>C (p.Glu351Asp) c.1161G>C (p.Glu387Asp) | |
8 | g.93923058G>T | CA371695059 | PDP1 | c.999G>T (p.Glu333Asp) c.1074G>T (p.Glu358Asp) c.1053G>T (p.Glu351Asp) c.1161G>T (p.Glu387Asp) | |
8 | g.93923059G>A | CA371695062 | PDP1 | c.1000G>A (p.Ala334Thr) c.1075G>A (p.Ala359Thr) c.1054G>A (p.Ala352Thr) c.1162G>A (p.Ala388Thr) | |
8 | g.93923059G>C | CA371695065 | PDP1 | c.1000G>C (p.Ala334Pro) c.1075G>C (p.Ala359Pro) c.1054G>C (p.Ala352Pro) c.1162G>C (p.Ala388Pro) | |
8 | g.93923059G>T | CA371695067 | PDP1 | c.1000G>T (p.Ala334Ser) c.1075G>T (p.Ala359Ser) c.1054G>T (p.Ala352Ser) c.1162G>T (p.Ala388Ser) | dbSNP |
8 | g.93923060C>A | CA371695069 | PDP1 | c.1001C>A (p.Ala334Asp) c.1076C>A (p.Ala359Asp) c.1055C>A (p.Ala352Asp) c.1163C>A (p.Ala388Asp) | |
8 | g.93923060C= | CA1803280832 | PDP1 | c.1001C= (p.Ala334=) c.1076C= (p.Ala359=) c.1055C= (p.Ala352=) c.1163C= (p.Ala388=) | |
8 | g.93923060C>G | CA4808770 | PDP1 | c.1001C>G (p.Ala334Gly) c.1076C>G (p.Ala359Gly) c.1055C>G (p.Ala352Gly) c.1163C>G (p.Ala388Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923060C>T | CA371695073 | PDP1 | c.1001C>T (p.Ala334Val) c.1076C>T (p.Ala359Val) c.1055C>T (p.Ala352Val) c.1163C>T (p.Ala388Val) | |
8 | g.93923061C>A | CA462117876 | PDP1 | c.1002C>A (p.Ala334=) c.1077C>A (p.Ala359=) c.1056C>A (p.Ala352=) c.1164C>A (p.Ala388=) | |
8 | g.93923061C= | CA1803280833 | PDP1 | c.1002C= (p.Ala334=) c.1077C= (p.Ala359=) c.1056C= (p.Ala352=) c.1164C= (p.Ala388=) | |
8 | g.93923061C>G | CA4808771 | PDP1 | c.1002C>G (p.Ala334=) c.1077C>G (p.Ala359=) c.1056C>G (p.Ala352=) c.1164C>G (p.Ala388=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923061C>T | CA462117877 | PDP1 | c.1002C>T (p.Ala334=) c.1077C>T (p.Ala359=) c.1056C>T (p.Ala352=) c.1164C>T (p.Ala388=) | |
8 | g.93923062A>C | CA371695077 | PDP1 | c.1003A>C (p.Lys335Gln) c.1078A>C (p.Lys360Gln) c.1057A>C (p.Lys353Gln) c.1165A>C (p.Lys389Gln) | |
8 | g.93923062A>G | CA371695082 | PDP1 | c.1003A>G (p.Lys335Glu) c.1078A>G (p.Lys360Glu) c.1057A>G (p.Lys353Glu) c.1165A>G (p.Lys389Glu) | |
8 | g.93923062A>T | CA371695079 | PDP1 | c.1003A>T (p.Lys335Ter) c.1078A>T (p.Lys360Ter) c.1057A>T (p.Lys353Ter) c.1165A>T (p.Lys389Ter) | |
8 | g.93923063A= | CA1803280834 | PDP1 | c.1004A= (p.Lys335=) c.1079A= (p.Lys360=) c.1058A= (p.Lys353=) c.1166A= (p.Lys389=) | |
8 | g.93923063A>C | CA371695086 | PDP1 | c.1004A>C (p.Lys335Thr) c.1079A>C (p.Lys360Thr) c.1058A>C (p.Lys353Thr) c.1166A>C (p.Lys389Thr) | |
8 | g.93923063A>G | CA371695088 | PDP1 | c.1004A>G (p.Lys335Arg) c.1079A>G (p.Lys360Arg) c.1058A>G (p.Lys353Arg) c.1166A>G (p.Lys389Arg) | dbSNP |
8 | g.93923063A>T | CA371695091 | PDP1 | c.1004A>T (p.Lys335Met) c.1079A>T (p.Lys360Met) c.1058A>T (p.Lys353Met) c.1166A>T (p.Lys389Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923064G>A | CA462117881 | PDP1 | c.1005G>A (p.Lys335=) c.1080G>A (p.Lys360=) c.1059G>A (p.Lys353=) c.1167G>A (p.Lys389=) | gnomAD v4 |
8 | g.93923064G>C | CA371695094 | PDP1 | c.1005G>C (p.Lys335Asn) c.1080G>C (p.Lys360Asn) c.1059G>C (p.Lys353Asn) c.1167G>C (p.Lys389Asn) | |
8 | g.93923064G>T | CA371695097 | PDP1 | c.1005G>T (p.Lys335Asn) c.1080G>T (p.Lys360Asn) c.1059G>T (p.Lys353Asn) c.1167G>T (p.Lys389Asn) | |
8 | g.93923065A= | CA1803280835 | PDP1 | c.1006A= (p.Ser336=) c.1081A= (p.Ser361=) c.1060A= (p.Ser354=) c.1168A= (p.Ser390=) | |
8 | g.93923065A>C | CA371695100 | PDP1 | c.1006A>C (p.Ser336Arg) c.1081A>C (p.Ser361Arg) c.1060A>C (p.Ser354Arg) c.1168A>C (p.Ser390Arg) | |
8 | g.93923065A>G | CA371695103 | PDP1 | c.1006A>G (p.Ser336Gly) c.1081A>G (p.Ser361Gly) c.1060A>G (p.Ser354Gly) c.1168A>G (p.Ser390Gly) | dbSNP |
8 | g.93923065A>T | CA371695105 | PDP1 | c.1006A>T (p.Ser336Cys) c.1081A>T (p.Ser361Cys) c.1060A>T (p.Ser354Cys) c.1168A>T (p.Ser390Cys) | |
8 | g.93923066G>A | CA371695107 | PDP1 | c.1007G>A (p.Ser336Asn) c.1082G>A (p.Ser361Asn) c.1061G>A (p.Ser354Asn) c.1169G>A (p.Ser390Asn) | |
8 | g.93923066G>C | CA371695109 | PDP1 | c.1007G>C (p.Ser336Thr) c.1082G>C (p.Ser361Thr) c.1061G>C (p.Ser354Thr) c.1169G>C (p.Ser390Thr) | |
8 | g.93923066G>T | CA371695111 | PDP1 | c.1007G>T (p.Ser336Ile) c.1082G>T (p.Ser361Ile) c.1061G>T (p.Ser354Ile) c.1169G>T (p.Ser390Ile) | |
8 | g.93923067T>A | CA371695113 | PDP1 | c.1008T>A (p.Ser336Arg) c.1083T>A (p.Ser361Arg) c.1062T>A (p.Ser354Arg) c.1170T>A (p.Ser390Arg) | |
8 | g.93923067T>C | CA462117883 | PDP1 | c.1008T>C (p.Ser336=) c.1083T>C (p.Ser361=) c.1062T>C (p.Ser354=) c.1170T>C (p.Ser390=) | gnomAD v4 |
8 | g.93923067T>G | CA371695116 | PDP1 | c.1008T>G (p.Ser336Arg) c.1083T>G (p.Ser361Arg) c.1062T>G (p.Ser354Arg) c.1170T>G (p.Ser390Arg) | |
8 | g.93923068G>A | CA371695121 | PDP1 | c.1009G>A (p.Val337Ile) c.1084G>A (p.Val362Ile) c.1063G>A (p.Val355Ile) c.1171G>A (p.Val391Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923068G>C | CA371695125 | PDP1 | c.1009G>C (p.Val337Leu) c.1084G>C (p.Val362Leu) c.1063G>C (p.Val355Leu) c.1171G>C (p.Val391Leu) | |
8 | g.93923068G= | CA1803280836 | PDP1 | c.1009G= (p.Val337=) c.1084G= (p.Val362=) c.1063G= (p.Val355=) c.1171G= (p.Val391=) | |
8 | g.93923068G>T | CA371695123 | PDP1 | c.1009G>T (p.Val337Phe) c.1084G>T (p.Val362Phe) c.1063G>T (p.Val355Phe) c.1171G>T (p.Val391Phe) | dbSNP |
8 | g.93923069T>A | CA371695126 | PDP1 | c.1010T>A (p.Val337Asp) c.1085T>A (p.Val362Asp) c.1064T>A (p.Val355Asp) c.1172T>A (p.Val391Asp) | |
8 | g.93923069T>C | CA371695127 | PDP1 | c.1010T>C (p.Val337Ala) c.1085T>C (p.Val362Ala) c.1064T>C (p.Val355Ala) c.1172T>C (p.Val391Ala) | |
8 | g.93923069T>G | CA371695128 | PDP1 | c.1010T>G (p.Val337Gly) c.1085T>G (p.Val362Gly) c.1064T>G (p.Val355Gly) c.1172T>G (p.Val391Gly) | |
8 | g.93923070C>A | CA462117886 | PDP1 | c.1011C>A (p.Val337=) c.1086C>A (p.Val362=) c.1065C>A (p.Val355=) c.1173C>A (p.Val391=) | |
8 | g.93923070C= | CA1803280837 | PDP1 | c.1011C= (p.Val337=) c.1086C= (p.Val362=) c.1065C= (p.Val355=) c.1173C= (p.Val391=) | |
8 | g.93923070C>G | CA462117887 | PDP1 | c.1011C>G (p.Val337=) c.1086C>G (p.Val362=) c.1065C>G (p.Val355=) c.1173C>G (p.Val391=) | gnomAD v4 |
8 | g.93923070C>T | CA4808772 | PDP1 | c.1011C>T (p.Val337=) c.1086C>T (p.Val362=) c.1065C>T (p.Val355=) c.1173C>T (p.Val391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.93923071G>A | CA4808773 | PDP1 | c.1012G>A (p.Val338Met) c.1087G>A (p.Val363Met) c.1066G>A (p.Val356Met) c.1174G>A (p.Val392Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923071G>C | CA371695132 | PDP1 | c.1012G>C (p.Val338Leu) c.1087G>C (p.Val363Leu) c.1066G>C (p.Val356Leu) c.1174G>C (p.Val392Leu) | |
8 | g.93923071G= | CA1803280838 | PDP1 | c.1012G= (p.Val338=) c.1087G= (p.Val363=) c.1066G= (p.Val356=) c.1174G= (p.Val392=) | |
8 | g.93923071G>T | CA371695135 | PDP1 | c.1012G>T (p.Val338Leu) c.1087G>T (p.Val363Leu) c.1066G>T (p.Val356Leu) c.1174G>T (p.Val392Leu) | gnomAD v4 |
8 | g.93923072T>A | CA371695138 | PDP1 | c.1013T>A (p.Val338Glu) c.1088T>A (p.Val363Glu) c.1067T>A (p.Val356Glu) c.1175T>A (p.Val392Glu) | |
8 | g.93923072T>C | CA371695142 | PDP1 | c.1013T>C (p.Val338Ala) c.1088T>C (p.Val363Ala) c.1067T>C (p.Val356Ala) c.1175T>C (p.Val392Ala) | |
8 | g.93923072T>G | CA371695144 | PDP1 | c.1013T>G (p.Val338Gly) c.1088T>G (p.Val363Gly) c.1067T>G (p.Val356Gly) c.1175T>G (p.Val392Gly) | |
8 | g.93923073G>A | CA462117889 | PDP1 | c.1014G>A (p.Val338=) c.1089G>A (p.Val363=) c.1068G>A (p.Val356=) c.1176G>A (p.Val392=) | |
8 | g.93923073G>C | CA462117890 | PDP1 | c.1014G>C (p.Val338=) c.1089G>C (p.Val363=) c.1068G>C (p.Val356=) c.1176G>C (p.Val392=) | |
8 | g.93923073G>T | CA462117891 | PDP1 | c.1014G>T (p.Val338=) c.1089G>T (p.Val363=) c.1068G>T (p.Val356=) c.1176G>T (p.Val392=) | |
8 | g.93923074A>C | CA371695153 | PDP1 | c.1015A>C (p.Lys339Gln) c.1090A>C (p.Lys364Gln) c.1069A>C (p.Lys357Gln) c.1177A>C (p.Lys393Gln) | |
8 | g.93923074A>G | CA371695150 | PDP1 | c.1015A>G (p.Lys339Glu) c.1090A>G (p.Lys364Glu) c.1069A>G (p.Lys357Glu) c.1177A>G (p.Lys393Glu) | COSMIC COSMIC |
8 | g.93923074A>T | CA371695148 | PDP1 | c.1015A>T (p.Lys339Ter) c.1090A>T (p.Lys364Ter) c.1069A>T (p.Lys357Ter) c.1177A>T (p.Lys393Ter) | |
8 | g.93923075A= | CA1803280839 | PDP1 | c.1016A= (p.Lys339=) c.1091A= (p.Lys364=) c.1070A= (p.Lys357=) c.1178A= (p.Lys393=) | |
8 | g.93923075A>C | CA371695156 | PDP1 | c.1016A>C (p.Lys339Thr) c.1091A>C (p.Lys364Thr) c.1070A>C (p.Lys357Thr) c.1178A>C (p.Lys393Thr) | |
8 | g.93923075A>G | CA371695161 | PDP1 | c.1016A>G (p.Lys339Arg) c.1091A>G (p.Lys364Arg) c.1070A>G (p.Lys357Arg) c.1178A>G (p.Lys393Arg) | dbSNP |
8 | g.93923075A>T | CA371695159 | PDP1 | c.1016A>T (p.Lys339Ile) c.1091A>T (p.Lys364Ile) c.1070A>T (p.Lys357Ile) c.1178A>T (p.Lys393Ile) | |
8 | g.93923076A= | CA1803280840 | PDP1 | c.1017A= (p.Lys339=) c.1092A= (p.Lys364=) c.1071A= (p.Lys357=) c.1179A= (p.Lys393=) | |
8 | g.93923076A>C | CA371695163 | PDP1 | c.1017A>C (p.Lys339Asn) c.1092A>C (p.Lys364Asn) c.1071A>C (p.Lys357Asn) c.1179A>C (p.Lys393Asn) | |
8 | g.93923076A>G | CA462117893 | PDP1 | c.1017A>G (p.Lys339=) c.1092A>G (p.Lys364=) c.1071A>G (p.Lys357=) c.1179A>G (p.Lys393=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923076A>T | CA371695164 | PDP1 | c.1017A>T (p.Lys339Asn) c.1092A>T (p.Lys364Asn) c.1071A>T (p.Lys357Asn) c.1179A>T (p.Lys393Asn) |