| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.93923077C>A | CA371695169 | PDP1 | c.1018C>A (p.Gln340Lys) c.1093C>A (p.Gln365Lys) c.1072C>A (p.Gln358Lys) c.1180C>A (p.Gln394Lys) | |
| 8 | g.93923077C>G | CA371695171 | PDP1 | c.1018C>G (p.Gln340Glu) c.1093C>G (p.Gln365Glu) c.1072C>G (p.Gln358Glu) c.1180C>G (p.Gln394Glu) | gnomAD v4 |
| 8 | g.93923077C>T | CA371695172 | PDP1 | c.1018C>T (p.Gln340Ter) c.1093C>T (p.Gln365Ter) c.1072C>T (p.Gln358Ter) c.1180C>T (p.Gln394Ter) | |
| 8 | g.93923078A>C | CA371695174 | PDP1 | c.1019A>C (p.Gln340Pro) c.1094A>C (p.Gln365Pro) c.1073A>C (p.Gln358Pro) c.1181A>C (p.Gln394Pro) | |
| 8 | g.93923078A>G | CA371695176 | PDP1 | c.1019A>G (p.Gln340Arg) c.1094A>G (p.Gln365Arg) c.1073A>G (p.Gln358Arg) c.1181A>G (p.Gln394Arg) | |
| 8 | g.93923078A>T | CA371695179 | PDP1 | c.1019A>T (p.Gln340Leu) c.1094A>T (p.Gln365Leu) c.1073A>T (p.Gln358Leu) c.1181A>T (p.Gln394Leu) | |
| 8 | g.93923079G>A | CA462117898 | PDP1 | c.1020G>A (p.Gln340=) c.1095G>A (p.Gln365=) c.1074G>A (p.Gln358=) c.1182G>A (p.Gln394=) | |
| 8 | g.93923079G>C | CA371695181 | PDP1 | c.1020G>C (p.Gln340His) c.1095G>C (p.Gln365His) c.1074G>C (p.Gln358His) c.1182G>C (p.Gln394His) | |
| 8 | g.93923079G>T | CA371695183 | PDP1 | c.1020G>T (p.Gln340His) c.1095G>T (p.Gln365His) c.1074G>T (p.Gln358His) c.1182G>T (p.Gln394His) | COSMIC COSMIC |
| 8 | g.93923080G>A | CA371695187 | PDP1 | c.1021G>A (p.Asp341Asn) c.1096G>A (p.Asp366Asn) c.1075G>A (p.Asp359Asn) c.1183G>A (p.Asp395Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923080G>C | CA4808774 | PDP1 | c.1021G>C (p.Asp341His) c.1096G>C (p.Asp366His) c.1075G>C (p.Asp359His) c.1183G>C (p.Asp395His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923080G= | CA1803280841 | PDP1 | c.1021G= (p.Asp341=) c.1096G= (p.Asp366=) c.1075G= (p.Asp359=) c.1183G= (p.Asp395=) | |
| 8 | g.93923080G>T | CA371695185 | PDP1 | c.1021G>T (p.Asp341Tyr) c.1096G>T (p.Asp366Tyr) c.1075G>T (p.Asp359Tyr) c.1183G>T (p.Asp395Tyr) | |
| 8 | g.93923081A>C | CA371695191 | PDP1 | c.1022A>C (p.Asp341Ala) c.1097A>C (p.Asp366Ala) c.1076A>C (p.Asp359Ala) c.1184A>C (p.Asp395Ala) | |
| 8 | g.93923081A>G | CA371695193 | PDP1 | c.1022A>G (p.Asp341Gly) c.1097A>G (p.Asp366Gly) c.1076A>G (p.Asp359Gly) c.1184A>G (p.Asp395Gly) | |
| 8 | g.93923081A>T | CA371695195 | PDP1 | c.1022A>T (p.Asp341Val) c.1097A>T (p.Asp366Val) c.1076A>T (p.Asp359Val) c.1184A>T (p.Asp395Val) | |
| 8 | g.93923082T>A | CA371695201 | PDP1 | c.1023T>A (p.Asp341Glu) c.1098T>A (p.Asp366Glu) c.1077T>A (p.Asp359Glu) c.1185T>A (p.Asp395Glu) | |
| 8 | g.93923082T>C | CA462117899 | PDP1 | c.1023T>C (p.Asp341=) c.1098T>C (p.Asp366=) c.1077T>C (p.Asp359=) c.1185T>C (p.Asp395=) | |
| 8 | g.93923082T>G | CA371695202 | PDP1 | c.1023T>G (p.Asp341Glu) c.1098T>G (p.Asp366Glu) c.1077T>G (p.Asp359Glu) c.1185T>G (p.Asp395Glu) | |
| 8 | g.93923083C>A | CA462117902 | PDP1 | c.1024C>A (p.Arg342=) c.1099C>A (p.Arg367=) c.1078C>A (p.Arg360=) c.1186C>A (p.Arg396=) | |
| 8 | g.93923083C= | CA1803280842 | PDP1 | c.1024C= (p.Arg342=) c.1099C= (p.Arg367=) c.1078C= (p.Arg360=) c.1186C= (p.Arg396=) | |
| 8 | g.93923083C>G | CA371695204 | PDP1 | c.1024C>G (p.Arg342Gly) c.1099C>G (p.Arg367Gly) c.1078C>G (p.Arg360Gly) c.1186C>G (p.Arg396Gly) | |
| 8 | g.93923083C>T | CA4808775 | PDP1 | c.1024C>T (p.Arg342Trp) c.1099C>T (p.Arg367Trp) c.1078C>T (p.Arg360Trp) c.1186C>T (p.Arg396Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923084G>A | CA371695209 | PDP1 | c.1025G>A (p.Arg342Gln) c.1100G>A (p.Arg367Gln) c.1079G>A (p.Arg360Gln) c.1187G>A (p.Arg396Gln) | gnomAD v4 |
| 8 | g.93923084G>C | CA371695211 | PDP1 | c.1025G>C (p.Arg342Pro) c.1100G>C (p.Arg367Pro) c.1079G>C (p.Arg360Pro) c.1187G>C (p.Arg396Pro) | |
| 8 | g.93923084G>T | CA371695215 | PDP1 | c.1025G>T (p.Arg342Leu) c.1100G>T (p.Arg367Leu) c.1079G>T (p.Arg360Leu) c.1187G>T (p.Arg396Leu) | |
| 8 | g.93923085G>A | CA462117904 | PDP1 | c.1026G>A (p.Arg342=) c.1101G>A (p.Arg367=) c.1080G>A (p.Arg360=) c.1188G>A (p.Arg396=) | gnomAD v4 |
| 8 | g.93923085G>C | CA462117905 | PDP1 | c.1026G>C (p.Arg342=) c.1101G>C (p.Arg367=) c.1080G>C (p.Arg360=) c.1188G>C (p.Arg396=) | |
| 8 | g.93923085G>T | CA462117907 | PDP1 | c.1026G>T (p.Arg342=) c.1101G>T (p.Arg367=) c.1080G>T (p.Arg360=) c.1188G>T (p.Arg396=) | |
| 8 | g.93923086C>A | CA371695218 | PDP1 | c.1027C>A (p.Leu343Met) c.1102C>A (p.Leu368Met) c.1081C>A (p.Leu361Met) c.1189C>A (p.Leu397Met) | |
| 8 | g.93923086C>G | CA371695220 | PDP1 | c.1027C>G (p.Leu343Val) c.1102C>G (p.Leu368Val) c.1081C>G (p.Leu361Val) c.1189C>G (p.Leu397Val) | gnomAD v4 |
| 8 | g.93923086C>T | CA462117910 | PDP1 | c.1027C>T (p.Leu343=) c.1102C>T (p.Leu368=) c.1081C>T (p.Leu361=) c.1189C>T (p.Leu397=) | |
| 8 | g.93923087T>A | CA371695225 | PDP1 | c.1028T>A (p.Leu343Gln) c.1103T>A (p.Leu368Gln) c.1082T>A (p.Leu361Gln) c.1190T>A (p.Leu397Gln) | |
| 8 | g.93923087T>C | CA371695227 | PDP1 | c.1028T>C (p.Leu343Pro) c.1103T>C (p.Leu368Pro) c.1082T>C (p.Leu361Pro) c.1190T>C (p.Leu397Pro) | |
| 8 | g.93923087T>G | CA371695223 | PDP1 | c.1028T>G (p.Leu343Arg) c.1103T>G (p.Leu368Arg) c.1082T>G (p.Leu361Arg) c.1190T>G (p.Leu397Arg) | |
| 8 | g.93923088G>A | CA462117912 | PDP1 | c.1029G>A (p.Leu343=) c.1104G>A (p.Leu368=) c.1083G>A (p.Leu361=) c.1191G>A (p.Leu397=) | gnomAD v4 |
| 8 | g.93923088G>C | CA4808776 | PDP1 | c.1029G>C (p.Leu343=) c.1104G>C (p.Leu368=) c.1083G>C (p.Leu361=) c.1191G>C (p.Leu397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923088G= | CA1803280843 | PDP1 | c.1029G= (p.Leu343=) c.1104G= (p.Leu368=) c.1083G= (p.Leu361=) c.1191G= (p.Leu397=) | |
| 8 | g.93923088G>T | CA462117915 | PDP1 | c.1029G>T (p.Leu343=) c.1104G>T (p.Leu368=) c.1083G>T (p.Leu361=) c.1191G>T (p.Leu397=) | |
| 8 | g.93923089C>A | CA371695230 | PDP1 | c.1030C>A (p.Leu344Ile) c.1105C>A (p.Leu369Ile) c.1084C>A (p.Leu362Ile) c.1192C>A (p.Leu398Ile) | |
| 8 | g.93923089C= | CA1803280844 | PDP1 | c.1030C= (p.Leu344=) c.1105C= (p.Leu369=) c.1084C= (p.Leu362=) c.1192C= (p.Leu398=) | |
| 8 | g.93923089C>G | CA371695232 | PDP1 | c.1030C>G (p.Leu344Val) c.1105C>G (p.Leu369Val) c.1084C>G (p.Leu362Val) c.1192C>G (p.Leu398Val) | |
| 8 | g.93923089C>T | CA181375984 | PDP1 | c.1030C>T (p.Leu344Phe) c.1105C>T (p.Leu369Phe) c.1084C>T (p.Leu362Phe) c.1192C>T (p.Leu398Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923090T>A | CA371695235 | PDP1 | c.1031T>A (p.Leu344His) c.1106T>A (p.Leu369His) c.1085T>A (p.Leu362His) c.1193T>A (p.Leu398His) | |
| 8 | g.93923090T>C | CA371695236 | PDP1 | c.1031T>C (p.Leu344Pro) c.1106T>C (p.Leu369Pro) c.1085T>C (p.Leu362Pro) c.1193T>C (p.Leu398Pro) | |
| 8 | g.93923090T>G | CA371695238 | PDP1 | c.1031T>G (p.Leu344Arg) c.1106T>G (p.Leu369Arg) c.1085T>G (p.Leu362Arg) c.1193T>G (p.Leu398Arg) | gnomAD v4 |
| 8 | g.93923091T>A | CA462117917 | PDP1 | c.1032T>A (p.Leu344=) c.1107T>A (p.Leu369=) c.1086T>A (p.Leu362=) c.1194T>A (p.Leu398=) | |
| 8 | g.93923091T>C | CA462117919 | PDP1 | c.1032T>C (p.Leu344=) c.1107T>C (p.Leu369=) c.1086T>C (p.Leu362=) c.1194T>C (p.Leu398=) | |
| 8 | g.93923091T>G | CA462117921 | PDP1 | c.1032T>G (p.Leu344=) c.1107T>G (p.Leu369=) c.1086T>G (p.Leu362=) c.1194T>G (p.Leu398=) | gnomAD v4 |
| 8 | g.93923091_93923092delinsTG | CA1803280845 | PDP1 | c.1032_1033delinsTG (p.Leu344=) c.1107_1108delinsTG (p.Leu369=) c.1086_1087delinsTG (p.Leu362=) c.1194_1195delinsTG (p.Leu398=) | |
| 8 | g.93923092G>A | CA371695244 | PDP1 | c.1033G>A (p.Gly345Ser) c.1108G>A (p.Gly370Ser) c.1087G>A (p.Gly363Ser) c.1195G>A (p.Gly399Ser) | |
| 8 | g.93923092G>C | CA371695246 | PDP1 | c.1033G>C (p.Gly345Arg) c.1108G>C (p.Gly370Arg) c.1087G>C (p.Gly363Arg) c.1195G>C (p.Gly399Arg) | |
| 8 | g.93923092G>T | CA371695248 | PDP1 | c.1033G>T (p.Gly345Cys) c.1108G>T (p.Gly370Cys) c.1087G>T (p.Gly363Cys) c.1195G>T (p.Gly399Cys) | |
| 8 | g.93923093del | CA4808777 | PDP1 | c.1034del (p.Gly345AlafsTer3) c.1109del (p.Gly370AlafsTer3) c.1088del (p.Gly363AlafsTer3) c.1196del (p.Gly399AlafsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923093G>A | CA371695255 | PDP1 | c.1034G>A (p.Gly345Asp) c.1109G>A (p.Gly370Asp) c.1088G>A (p.Gly363Asp) c.1196G>A (p.Gly399Asp) | |
| 8 | g.93923093G>C | CA371695258 | PDP1 | c.1034G>C (p.Gly345Ala) c.1109G>C (p.Gly370Ala) c.1088G>C (p.Gly363Ala) c.1196G>C (p.Gly399Ala) | |
| 8 | g.93923093G>T | CA371695261 | PDP1 | c.1034G>T (p.Gly345Val) c.1109G>T (p.Gly370Val) c.1088G>T (p.Gly363Val) c.1196G>T (p.Gly399Val) | |
| 8 | g.93923094C>A | CA462117925 | PDP1 | c.1035C>A (p.Gly345=) c.1110C>A (p.Gly370=) c.1089C>A (p.Gly363=) c.1197C>A (p.Gly399=) | gnomAD v4 |
| 8 | g.93923094C= | CA1803280846 | PDP1 | c.1035C= (p.Gly345=) c.1110C= (p.Gly370=) c.1089C= (p.Gly363=) c.1197C= (p.Gly399=) | |
| 8 | g.93923094C>G | CA462117926 | PDP1 | c.1035C>G (p.Gly345=) c.1110C>G (p.Gly370=) c.1089C>G (p.Gly363=) c.1197C>G (p.Gly399=) | |
| 8 | g.93923094C>T | CA462117927 | PDP1 | c.1035C>T (p.Gly345=) c.1110C>T (p.Gly370=) c.1089C>T (p.Gly363=) c.1197C>T (p.Gly399=) | dbSNP |
| 8 | g.93923095T>A | CA371695263 | PDP1 | c.1036T>A (p.Leu346Met) c.1111T>A (p.Leu371Met) c.1090T>A (p.Leu364Met) c.1198T>A (p.Leu400Met) | |
| 8 | g.93923095T>C | CA462117928 | PDP1 | c.1036T>C (p.Leu346=) c.1111T>C (p.Leu371=) c.1090T>C (p.Leu364=) c.1198T>C (p.Leu400=) | |
| 8 | g.93923095T>G | CA371695265 | PDP1 | c.1036T>G (p.Leu346Val) c.1111T>G (p.Leu371Val) c.1090T>G (p.Leu364Val) c.1198T>G (p.Leu400Val) | |
| 8 | g.93923096T>A | CA371695269 | PDP1 | c.1037T>A (p.Leu346Ter) c.1112T>A (p.Leu371Ter) c.1091T>A (p.Leu364Ter) c.1199T>A (p.Leu400Ter) | |
| 8 | g.93923096T>C | CA371695272 | PDP1 | c.1037T>C (p.Leu346Ser) c.1112T>C (p.Leu371Ser) c.1091T>C (p.Leu364Ser) c.1199T>C (p.Leu400Ser) | |
| 8 | g.93923096T>G | CA371695274 | PDP1 | c.1037T>G (p.Leu346Trp) c.1112T>G (p.Leu371Trp) c.1091T>G (p.Leu364Trp) c.1199T>G (p.Leu400Trp) | |
| 8 | g.93923097G>A | CA462117930 | PDP1 | c.1038G>A (p.Leu346=) c.1113G>A (p.Leu371=) c.1092G>A (p.Leu364=) c.1200G>A (p.Leu400=) | |
| 8 | g.93923097G>C | CA371695276 | PDP1 | c.1038G>C (p.Leu346Phe) c.1113G>C (p.Leu371Phe) c.1092G>C (p.Leu364Phe) c.1200G>C (p.Leu400Phe) | |
| 8 | g.93923097G>T | CA371695278 | PDP1 | c.1038G>T (p.Leu346Phe) c.1113G>T (p.Leu371Phe) c.1092G>T (p.Leu364Phe) c.1200G>T (p.Leu400Phe) | |
| 8 | g.93923098C>A | CA371695281 | PDP1 | c.1039C>A (p.Leu347Met) c.1114C>A (p.Leu372Met) c.1093C>A (p.Leu365Met) c.1201C>A (p.Leu401Met) | |
| 8 | g.93923098C>G | CA371695283 | PDP1 | c.1039C>G (p.Leu347Val) c.1114C>G (p.Leu372Val) c.1093C>G (p.Leu365Val) c.1201C>G (p.Leu401Val) | |
| 8 | g.93923098C>T | CA462117931 | PDP1 | c.1039C>T (p.Leu347=) c.1114C>T (p.Leu372=) c.1093C>T (p.Leu365=) c.1201C>T (p.Leu401=) | |
| 8 | g.93923099T>A | CA371695287 | PDP1 | c.1040T>A (p.Leu347Gln) c.1115T>A (p.Leu372Gln) c.1094T>A (p.Leu365Gln) c.1202T>A (p.Leu401Gln) | |
| 8 | g.93923099T>C | CA371695289 | PDP1 | c.1040T>C (p.Leu347Pro) c.1115T>C (p.Leu372Pro) c.1094T>C (p.Leu365Pro) c.1202T>C (p.Leu401Pro) | |
| 8 | g.93923099T>G | CA371695291 | PDP1 | c.1040T>G (p.Leu347Arg) c.1115T>G (p.Leu372Arg) c.1094T>G (p.Leu365Arg) c.1202T>G (p.Leu401Arg) | |
| 8 | g.93923100G>A | CA462117934 | PDP1 | c.1041G>A (p.Leu347=) c.1116G>A (p.Leu372=) c.1095G>A (p.Leu365=) c.1203G>A (p.Leu401=) | |
| 8 | g.93923100G>C | CA462117936 | PDP1 | c.1041G>C (p.Leu347=) c.1116G>C (p.Leu372=) c.1095G>C (p.Leu365=) c.1203G>C (p.Leu401=) | |
| 8 | g.93923100G>T | CA462117937 | PDP1 | c.1041G>T (p.Leu347=) c.1116G>T (p.Leu372=) c.1095G>T (p.Leu365=) c.1203G>T (p.Leu401=) | |
| 8 | g.93923101A>C | CA371695294 | PDP1 | c.1042A>C (p.Met348Leu) c.1117A>C (p.Met373Leu) c.1096A>C (p.Met366Leu) c.1204A>C (p.Met402Leu) | |
| 8 | g.93923101A>G | CA371695296 | PDP1 | c.1042A>G (p.Met348Val) c.1117A>G (p.Met373Val) c.1096A>G (p.Met366Val) c.1204A>G (p.Met402Val) | |
| 8 | g.93923101A>T | CA371695298 | PDP1 | c.1042A>T (p.Met348Leu) c.1117A>T (p.Met373Leu) c.1096A>T (p.Met366Leu) c.1204A>T (p.Met402Leu) | |
| 8 | g.93923102T>A | CA371695305 | PDP1 | c.1043T>A (p.Met348Lys) c.1118T>A (p.Met373Lys) c.1097T>A (p.Met366Lys) c.1205T>A (p.Met402Lys) | |
| 8 | g.93923102T>C | CA371695307 | PDP1 | c.1043T>C (p.Met348Thr) c.1118T>C (p.Met373Thr) c.1097T>C (p.Met366Thr) c.1205T>C (p.Met402Thr) | |
| 8 | g.93923102T>G | CA371695302 | PDP1 | c.1043T>G (p.Met348Arg) c.1118T>G (p.Met373Arg) c.1097T>G (p.Met366Arg) c.1205T>G (p.Met402Arg) | |
| 8 | g.93923103G>A | CA371695313 | PDP1 | c.1044G>A (p.Met348Ile) c.1119G>A (p.Met373Ile) c.1098G>A (p.Met366Ile) c.1206G>A (p.Met402Ile) | dbSNP |
| 8 | g.93923103G>C | CA371695310 | PDP1 | c.1044G>C (p.Met348Ile) c.1119G>C (p.Met373Ile) c.1098G>C (p.Met366Ile) c.1206G>C (p.Met402Ile) | |
| 8 | g.93923103G= | CA1803280847 | PDP1 | c.1044G= (p.Met348=) c.1119G= (p.Met373=) c.1098G= (p.Met366=) c.1206G= (p.Met402=) | |
| 8 | g.93923103G>T | CA371695316 | PDP1 | c.1044G>T (p.Met348Ile) c.1119G>T (p.Met373Ile) c.1098G>T (p.Met366Ile) c.1206G>T (p.Met402Ile) | |
| 8 | g.93923104C>A | CA371695318 | PDP1 | c.1045C>A (p.Pro349Thr) c.1120C>A (p.Pro374Thr) c.1099C>A (p.Pro367Thr) c.1207C>A (p.Pro403Thr) | |
| 8 | g.93923104C>G | CA371695321 | PDP1 | c.1045C>G (p.Pro349Ala) c.1120C>G (p.Pro374Ala) c.1099C>G (p.Pro367Ala) c.1207C>G (p.Pro403Ala) | |
| 8 | g.93923104C>T | CA371695320 | PDP1 | c.1045C>T (p.Pro349Ser) c.1120C>T (p.Pro374Ser) c.1099C>T (p.Pro367Ser) c.1207C>T (p.Pro403Ser) | |
| 8 | g.93923105del | CA2687927855 | PDP1 | c.1046del (p.Pro349HisfsTer8) c.1121del (p.Pro374HisfsTer8) c.1100del (p.Pro367HisfsTer8) c.1208del (p.Pro403HisfsTer8) | gnomAD v4 |
| 8 | g.93923105C>A | CA371695324 | PDP1 | c.1046C>A (p.Pro349Gln) c.1121C>A (p.Pro374Gln) c.1100C>A (p.Pro367Gln) c.1208C>A (p.Pro403Gln) | |
| 8 | g.93923105C>G | CA371695327 | PDP1 | c.1046C>G (p.Pro349Arg) c.1121C>G (p.Pro374Arg) c.1100C>G (p.Pro367Arg) c.1208C>G (p.Pro403Arg) | |
| 8 | g.93923105C>T | CA371695329 | PDP1 | c.1046C>T (p.Pro349Leu) c.1121C>T (p.Pro374Leu) c.1100C>T (p.Pro367Leu) c.1208C>T (p.Pro403Leu) | |
| 8 | g.93923106A>C | CA462117943 | PDP1 | c.1047A>C (p.Pro349=) c.1122A>C (p.Pro374=) c.1101A>C (p.Pro367=) c.1209A>C (p.Pro403=) | |
| 8 | g.93923106A>G | CA462117944 | PDP1 | c.1047A>G (p.Pro349=) c.1122A>G (p.Pro374=) c.1101A>G (p.Pro367=) c.1209A>G (p.Pro403=) | |
| 8 | g.93923106A>T | CA462117945 | PDP1 | c.1047A>T (p.Pro349=) c.1122A>T (p.Pro374=) c.1101A>T (p.Pro367=) c.1209A>T (p.Pro403=) | |
| 8 | g.93923107T>A | CA371695332 | PDP1 | c.1048T>A (p.Phe350Ile) c.1123T>A (p.Phe375Ile) c.1102T>A (p.Phe368Ile) c.1210T>A (p.Phe404Ile) | |
| 8 | g.93923107T>C | CA371695335 | PDP1 | c.1048T>C (p.Phe350Leu) c.1123T>C (p.Phe375Leu) c.1102T>C (p.Phe368Leu) c.1210T>C (p.Phe404Leu) | |
| 8 | g.93923107T>G | CA371695338 | PDP1 | c.1048T>G (p.Phe350Val) c.1123T>G (p.Phe375Val) c.1102T>G (p.Phe368Val) c.1210T>G (p.Phe404Val) | |
| 8 | g.93923108T>A | CA371695340 | PDP1 | c.1049T>A (p.Phe350Tyr) c.1124T>A (p.Phe375Tyr) c.1103T>A (p.Phe368Tyr) c.1211T>A (p.Phe404Tyr) | |
| 8 | g.93923108T>C | CA371695342 | PDP1 | c.1049T>C (p.Phe350Ser) c.1124T>C (p.Phe375Ser) c.1103T>C (p.Phe368Ser) c.1211T>C (p.Phe404Ser) | |
| 8 | g.93923108T>G | CA371695343 | PDP1 | c.1049T>G (p.Phe350Cys) c.1124T>G (p.Phe375Cys) c.1103T>G (p.Phe368Cys) c.1211T>G (p.Phe404Cys) | |
| 8 | g.93923109T>A | CA371695346 | PDP1 | c.1050T>A (p.Phe350Leu) c.1125T>A (p.Phe375Leu) c.1104T>A (p.Phe368Leu) c.1212T>A (p.Phe404Leu) | |
| 8 | g.93923109T>C | CA462117949 | PDP1 | c.1050T>C (p.Phe350=) c.1125T>C (p.Phe375=) c.1104T>C (p.Phe368=) c.1212T>C (p.Phe404=) | |
| 8 | g.93923109T>G | CA371695349 | PDP1 | c.1050T>G (p.Phe350Leu) c.1125T>G (p.Phe375Leu) c.1104T>G (p.Phe368Leu) c.1212T>G (p.Phe404Leu) | |
| 8 | g.93923110A>C | CA462117950 | PDP1 | c.1051A>C (p.Arg351=) c.1126A>C (p.Arg376=) c.1105A>C (p.Arg369=) c.1213A>C (p.Arg405=) | |
| 8 | g.93923110A>G | CA371695359 | PDP1 | c.1051A>G (p.Arg351Gly) c.1126A>G (p.Arg376Gly) c.1105A>G (p.Arg369Gly) c.1213A>G (p.Arg405Gly) | |
| 8 | g.93923110A>T | CA371695357 | PDP1 | c.1051A>T (p.Arg351Trp) c.1126A>T (p.Arg376Trp) c.1105A>T (p.Arg369Trp) c.1213A>T (p.Arg405Trp) | |
| 8 | g.93923111G>A | CA371695361 | PDP1 | c.1052G>A (p.Arg351Lys) c.1127G>A (p.Arg376Lys) c.1106G>A (p.Arg369Lys) c.1214G>A (p.Arg405Lys) | |
| 8 | g.93923111G>C | CA371695365 | PDP1 | c.1052G>C (p.Arg351Thr) c.1127G>C (p.Arg376Thr) c.1106G>C (p.Arg369Thr) c.1214G>C (p.Arg405Thr) | |
| 8 | g.93923111G>T | CA371695366 | PDP1 | c.1052G>T (p.Arg351Met) c.1127G>T (p.Arg376Met) c.1106G>T (p.Arg369Met) c.1214G>T (p.Arg405Met) | |
| 8 | g.93923112G>A | CA462117954 | PDP1 | c.1053G>A (p.Arg351=) c.1128G>A (p.Arg376=) c.1107G>A (p.Arg369=) c.1215G>A (p.Arg405=) | gnomAD v4 |
| 8 | g.93923112G>C | CA371695370 | PDP1 | c.1053G>C (p.Arg351Ser) c.1128G>C (p.Arg376Ser) c.1107G>C (p.Arg369Ser) c.1215G>C (p.Arg405Ser) | |
| 8 | g.93923112G>T | CA371695377 | PDP1 | c.1053G>T (p.Arg351Ser) c.1128G>T (p.Arg376Ser) c.1107G>T (p.Arg369Ser) c.1215G>T (p.Arg405Ser) | |
| 8 | g.93923113G>A | CA371695380 | PDP1 | c.1054G>A (p.Ala352Thr) c.1129G>A (p.Ala377Thr) c.1108G>A (p.Ala370Thr) c.1216G>A (p.Ala406Thr) | |
| 8 | g.93923113G>C | CA371695383 | PDP1 | c.1054G>C (p.Ala352Pro) c.1129G>C (p.Ala377Pro) c.1108G>C (p.Ala370Pro) c.1216G>C (p.Ala406Pro) | |
| 8 | g.93923113G>T | CA371695386 | PDP1 | c.1054G>T (p.Ala352Ser) c.1129G>T (p.Ala377Ser) c.1108G>T (p.Ala370Ser) c.1216G>T (p.Ala406Ser) | |
| 8 | g.93923114C>A | CA371695388 | PDP1 | c.1055C>A (p.Ala352Glu) c.1130C>A (p.Ala377Glu) c.1109C>A (p.Ala370Glu) c.1217C>A (p.Ala406Glu) | |
| 8 | g.93923114C>G | CA371695392 | PDP1 | c.1055C>G (p.Ala352Gly) c.1130C>G (p.Ala377Gly) c.1109C>G (p.Ala370Gly) c.1217C>G (p.Ala406Gly) | |
| 8 | g.93923114C>T | CA371695395 | PDP1 | c.1055C>T (p.Ala352Val) c.1130C>T (p.Ala377Val) c.1109C>T (p.Ala370Val) c.1217C>T (p.Ala406Val) | |
| 8 | g.93923115A= | CA1803280848 | PDP1 | c.1056A= (p.Ala352=) c.1131A= (p.Ala377=) c.1110A= (p.Ala370=) c.1218A= (p.Ala406=) | |
| 8 | g.93923115A>C | CA462117958 | PDP1 | c.1056A>C (p.Ala352=) c.1131A>C (p.Ala377=) c.1110A>C (p.Ala370=) c.1218A>C (p.Ala406=) | |
| 8 | g.93923115A>G | CA462117957 | PDP1 | c.1056A>G (p.Ala352=) c.1131A>G (p.Ala377=) c.1110A>G (p.Ala370=) c.1218A>G (p.Ala406=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923115A>T | CA462117956 | PDP1 | c.1056A>T (p.Ala352=) c.1131A>T (p.Ala377=) c.1110A>T (p.Ala370=) c.1218A>T (p.Ala406=) | |
| 8 | g.93923116T>A | CA371695402 | PDP1 | c.1057T>A (p.Phe353Ile) c.1132T>A (p.Phe378Ile) c.1111T>A (p.Phe371Ile) c.1219T>A (p.Phe407Ile) | |
| 8 | g.93923116T>C | CA371695404 | PDP1 | c.1057T>C (p.Phe353Leu) c.1132T>C (p.Phe378Leu) c.1111T>C (p.Phe371Leu) c.1219T>C (p.Phe407Leu) | |
| 8 | g.93923116T>G | CA371695399 | PDP1 | c.1057T>G (p.Phe353Val) c.1132T>G (p.Phe378Val) c.1111T>G (p.Phe371Val) c.1219T>G (p.Phe407Val) | |
| 8 | g.93923117T>A | CA371695407 | PDP1 | c.1058T>A (p.Phe353Tyr) c.1133T>A (p.Phe378Tyr) c.1112T>A (p.Phe371Tyr) c.1220T>A (p.Phe407Tyr) | |
| 8 | g.93923117T>C | CA371695408 | PDP1 | c.1058T>C (p.Phe353Ser) c.1133T>C (p.Phe378Ser) c.1112T>C (p.Phe371Ser) c.1220T>C (p.Phe407Ser) | COSMIC COSMIC |
| 8 | g.93923117T>G | CA371695409 | PDP1 | c.1058T>G (p.Phe353Cys) c.1133T>G (p.Phe378Cys) c.1112T>G (p.Phe371Cys) c.1220T>G (p.Phe407Cys) | |
| 8 | g.93923118T>A | CA371695411 | PDP1 | c.1059T>A (p.Phe353Leu) c.1134T>A (p.Phe378Leu) c.1113T>A (p.Phe371Leu) c.1221T>A (p.Phe407Leu) | |
| 8 | g.93923118T>C | CA462117961 | PDP1 | c.1059T>C (p.Phe353=) c.1134T>C (p.Phe378=) c.1113T>C (p.Phe371=) c.1221T>C (p.Phe407=) | |
| 8 | g.93923118T>G | CA371695413 | PDP1 | c.1059T>G (p.Phe353Leu) c.1134T>G (p.Phe378Leu) c.1113T>G (p.Phe371Leu) c.1221T>G (p.Phe407Leu) | |
| 8 | g.93923119G>A | CA371695421 | PDP1 | c.1060G>A (p.Gly354Arg) c.1135G>A (p.Gly379Arg) c.1114G>A (p.Gly372Arg) c.1222G>A (p.Gly408Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923119G>C | CA371695419 | PDP1 | c.1060G>C (p.Gly354Arg) c.1135G>C (p.Gly379Arg) c.1114G>C (p.Gly372Arg) c.1222G>C (p.Gly408Arg) | |
| 8 | g.93923119G= | CA1803280849 | PDP1 | c.1060G= (p.Gly354=) c.1135G= (p.Gly379=) c.1114G= (p.Gly372=) c.1222G= (p.Gly408=) | |
| 8 | g.93923119G>T | CA371695416 | PDP1 | c.1060G>T (p.Gly354Ter) c.1135G>T (p.Gly379Ter) c.1114G>T (p.Gly372Ter) c.1222G>T (p.Gly408Ter) | |
| 8 | g.93923120G>A | CA371695424 | PDP1 | c.1061G>A (p.Gly354Glu) c.1136G>A (p.Gly379Glu) c.1115G>A (p.Gly372Glu) c.1223G>A (p.Gly408Glu) | |
| 8 | g.93923120G>C | CA371695427 | PDP1 | c.1061G>C (p.Gly354Ala) c.1136G>C (p.Gly379Ala) c.1115G>C (p.Gly372Ala) c.1223G>C (p.Gly408Ala) | |
| 8 | g.93923120G>T | CA371695428 | PDP1 | c.1061G>T (p.Gly354Val) c.1136G>T (p.Gly379Val) c.1115G>T (p.Gly372Val) c.1223G>T (p.Gly408Val) | |
| 8 | g.93923121A>C | CA462117964 | PDP1 | c.1062A>C (p.Gly354=) c.1137A>C (p.Gly379=) c.1116A>C (p.Gly372=) c.1224A>C (p.Gly408=) | |
| 8 | g.93923121A>G | CA462117966 | PDP1 | c.1062A>G (p.Gly354=) c.1137A>G (p.Gly379=) c.1116A>G (p.Gly372=) c.1224A>G (p.Gly408=) | |
| 8 | g.93923121A>T | CA462117965 | PDP1 | c.1062A>T (p.Gly354=) c.1137A>T (p.Gly379=) c.1116A>T (p.Gly372=) c.1224A>T (p.Gly408=) | |
| 8 | g.93923122G>A | CA371695435 | PDP1 | c.1063G>A (p.Asp355Asn) c.1138G>A (p.Asp380Asn) c.1117G>A (p.Asp373Asn) c.1225G>A (p.Asp409Asn) | |
| 8 | g.93923122G>C | CA371695436 | PDP1 | c.1063G>C (p.Asp355His) c.1138G>C (p.Asp380His) c.1117G>C (p.Asp373His) c.1225G>C (p.Asp409His) | |
| 8 | g.93923122G>T | CA371695439 | PDP1 | c.1063G>T (p.Asp355Tyr) c.1138G>T (p.Asp380Tyr) c.1117G>T (p.Asp373Tyr) c.1225G>T (p.Asp409Tyr) | |
| 8 | g.93923123A>C | CA371695443 | PDP1 | c.1064A>C (p.Asp355Ala) c.1139A>C (p.Asp380Ala) c.1118A>C (p.Asp373Ala) c.1226A>C (p.Asp409Ala) | |
| 8 | g.93923123A>G | CA371695450 | PDP1 | c.1064A>G (p.Asp355Gly) c.1139A>G (p.Asp380Gly) c.1118A>G (p.Asp373Gly) c.1226A>G (p.Asp409Gly) | |
| 8 | g.93923123A>T | CA371695446 | PDP1 | c.1064A>T (p.Asp355Val) c.1139A>T (p.Asp380Val) c.1118A>T (p.Asp373Val) c.1226A>T (p.Asp409Val) | |
| 8 | g.93923124T>A | CA371695451 | PDP1 | c.1065T>A (p.Asp355Glu) c.1140T>A (p.Asp380Glu) c.1119T>A (p.Asp373Glu) c.1227T>A (p.Asp409Glu) | dbSNP |
| 8 | g.93923124T>C | CA462117968 | PDP1 | c.1065T>C (p.Asp355=) c.1140T>C (p.Asp380=) c.1119T>C (p.Asp373=) c.1227T>C (p.Asp409=) | dbSNP |
| 8 | g.93923124T>G | CA371695452 | PDP1 | c.1065T>G (p.Asp355Glu) c.1140T>G (p.Asp380Glu) c.1119T>G (p.Asp373Glu) c.1227T>G (p.Asp409Glu) | |
| 8 | g.93923124T= | CA1803280850 | PDP1 | c.1065T= (p.Asp355=) c.1140T= (p.Asp380=) c.1119T= (p.Asp373=) c.1227T= (p.Asp409=) | |
| 8 | g.93923125G>A | CA371695454 | PDP1 | c.1066G>A (p.Val356Ile) c.1141G>A (p.Val381Ile) c.1120G>A (p.Val374Ile) c.1228G>A (p.Val410Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923125G>C | CA371695456 | PDP1 | c.1066G>C (p.Val356Leu) c.1141G>C (p.Val381Leu) c.1120G>C (p.Val374Leu) c.1228G>C (p.Val410Leu) | |
| 8 | g.93923125G= | CA1803280851 | PDP1 | c.1066G= (p.Val356=) c.1141G= (p.Val381=) c.1120G= (p.Val374=) c.1228G= (p.Val410=) | |
| 8 | g.93923125G>T | CA371695458 | PDP1 | c.1066G>T (p.Val356Leu) c.1141G>T (p.Val381Leu) c.1120G>T (p.Val374Leu) c.1228G>T (p.Val410Leu) | |
| 8 | g.93923126T>A | CA371695462 | PDP1 | c.1067T>A (p.Val356Glu) c.1142T>A (p.Val381Glu) c.1121T>A (p.Val374Glu) c.1229T>A (p.Val410Glu) | |
| 8 | g.93923126T>C | CA371695464 | PDP1 | c.1067T>C (p.Val356Ala) c.1142T>C (p.Val381Ala) c.1121T>C (p.Val374Ala) c.1229T>C (p.Val410Ala) | |
| 8 | g.93923126T>G | CA371695467 | PDP1 | c.1067T>G (p.Val356Gly) c.1142T>G (p.Val381Gly) c.1121T>G (p.Val374Gly) c.1229T>G (p.Val410Gly) | |
| 8 | g.93923127A= | CA1803280852 | PDP1 | c.1068A= (p.Val356=) c.1143A= (p.Val381=) c.1122A= (p.Val374=) c.1230A= (p.Val410=) | |
| 8 | g.93923127A>C | CA462117972 | PDP1 | c.1068A>C (p.Val356=) c.1143A>C (p.Val381=) c.1122A>C (p.Val374=) c.1230A>C (p.Val410=) | |
| 8 | g.93923127A>G | CA181375995 | PDP1 | c.1068A>G (p.Val356=) c.1143A>G (p.Val381=) c.1122A>G (p.Val374=) c.1230A>G (p.Val410=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923127A>T | CA462117973 | PDP1 | c.1068A>T (p.Val356=) c.1143A>T (p.Val381=) c.1122A>T (p.Val374=) c.1230A>T (p.Val410=) |