| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 8 | g.93923128A>C | CA371695471 | PDP1 | c.1069A>C (p.Lys357Gln) c.1144A>C (p.Lys382Gln) c.1123A>C (p.Lys375Gln) c.1231A>C (p.Lys411Gln) | |
| 8 | g.93923128A>G | CA371695472 | PDP1 | c.1069A>G (p.Lys357Glu) c.1144A>G (p.Lys382Glu) c.1123A>G (p.Lys375Glu) c.1231A>G (p.Lys411Glu) | |
| 8 | g.93923128A>T | CA371695476 | PDP1 | c.1069A>T (p.Lys357Ter) c.1144A>T (p.Lys382Ter) c.1123A>T (p.Lys375Ter) c.1231A>T (p.Lys411Ter) | |
| 8 | g.93923129A= | CA1803280853 | PDP1 | c.1070A= (p.Lys357=) c.1145A= (p.Lys382=) c.1124A= (p.Lys375=) c.1232A= (p.Lys411=) | |
| 8 | g.93923129A>C | CA371695482 | PDP1 | c.1070A>C (p.Lys357Thr) c.1145A>C (p.Lys382Thr) c.1124A>C (p.Lys375Thr) c.1232A>C (p.Lys411Thr) | |
| 8 | g.93923129A>G | CA371695484 | PDP1 | c.1070A>G (p.Lys357Arg) c.1145A>G (p.Lys382Arg) c.1124A>G (p.Lys375Arg) c.1232A>G (p.Lys411Arg) | |
| 8 | g.93923129A>T | CA371695480 | PDP1 | c.1070A>T (p.Lys357Met) c.1145A>T (p.Lys382Met) c.1124A>T (p.Lys375Met) c.1232A>T (p.Lys411Met) | dbSNP gnomAD v4 |
| 8 | g.93923130G>A | CA462117975 | PDP1 | c.1071G>A (p.Lys357=) c.1146G>A (p.Lys382=) c.1125G>A (p.Lys375=) c.1233G>A (p.Lys411=) | |
| 8 | g.93923130G>C | CA371695486 | PDP1 | c.1071G>C (p.Lys357Asn) c.1146G>C (p.Lys382Asn) c.1125G>C (p.Lys375Asn) c.1233G>C (p.Lys411Asn) | |
| 8 | g.93923130G>T | CA371695488 | PDP1 | c.1071G>T (p.Lys357Asn) c.1146G>T (p.Lys382Asn) c.1125G>T (p.Lys375Asn) c.1233G>T (p.Lys411Asn) | gnomAD v4 |
| 8 | g.93923131T>A | CA371695491 | PDP1 | c.1072T>A (p.Phe358Ile) c.1147T>A (p.Phe383Ile) c.1126T>A (p.Phe376Ile) c.1234T>A (p.Phe412Ile) | |
| 8 | g.93923131T>C | CA371695493 | PDP1 | c.1072T>C (p.Phe358Leu) c.1147T>C (p.Phe383Leu) c.1126T>C (p.Phe376Leu) c.1234T>C (p.Phe412Leu) | |
| 8 | g.93923131T>G | CA371695494 | PDP1 | c.1072T>G (p.Phe358Val) c.1147T>G (p.Phe383Val) c.1126T>G (p.Phe376Val) c.1234T>G (p.Phe412Val) | |
| 8 | g.93923132T>A | CA371695497 | PDP1 | c.1073T>A (p.Phe358Tyr) c.1148T>A (p.Phe383Tyr) c.1127T>A (p.Phe376Tyr) c.1235T>A (p.Phe412Tyr) | |
| 8 | g.93923132T>C | CA371695499 | PDP1 | c.1073T>C (p.Phe358Ser) c.1148T>C (p.Phe383Ser) c.1127T>C (p.Phe376Ser) c.1235T>C (p.Phe412Ser) | |
| 8 | g.93923132T>G | CA371695502 | PDP1 | c.1073T>G (p.Phe358Cys) c.1148T>G (p.Phe383Cys) c.1127T>G (p.Phe376Cys) c.1235T>G (p.Phe412Cys) | |
| 8 | g.93923133C>A | CA371695504 | PDP1 | c.1074C>A (p.Phe358Leu) c.1149C>A (p.Phe383Leu) c.1128C>A (p.Phe376Leu) c.1236C>A (p.Phe412Leu) | |
| 8 | g.93923133C>G | CA371695505 | PDP1 | c.1074C>G (p.Phe358Leu) c.1149C>G (p.Phe383Leu) c.1128C>G (p.Phe376Leu) c.1236C>G (p.Phe412Leu) | gnomAD v4 |
| 8 | g.93923133C>T | CA462117979 | PDP1 | c.1074C>T (p.Phe358=) c.1149C>T (p.Phe383=) c.1128C>T (p.Phe376=) c.1236C>T (p.Phe412=) | |
| 8 | g.93923134A>C | CA371695506 | PDP1 | c.1075A>C (p.Lys359Gln) c.1150A>C (p.Lys384Gln) c.1129A>C (p.Lys377Gln) c.1237A>C (p.Lys413Gln) | |
| 8 | g.93923134A>G | CA371695507 | PDP1 | c.1075A>G (p.Lys359Glu) c.1150A>G (p.Lys384Glu) c.1129A>G (p.Lys377Glu) c.1237A>G (p.Lys413Glu) | |
| 8 | g.93923134A>T | CA371695508 | PDP1 | c.1075A>T (p.Lys359Ter) c.1150A>T (p.Lys384Ter) c.1129A>T (p.Lys377Ter) c.1237A>T (p.Lys413Ter) | |
| 8 | g.93923134_93923135insGCCGTTCT | CA2541629194 | PDP1 | c.1075_1076insGCCGTTCT (p.Lys359SerfsTer13) c.1150_1151insGCCGTTCT (p.Lys384SerfsTer13) c.1129_1130insGCCGTTCT (p.Lys377SerfsTer13) c.1237_1238insGCCGTTCT (p.Lys413SerfsTer13) | |
| 8 | g.93923135A>C | CA371695515 | PDP1 | c.1076A>C (p.Lys359Thr) c.1151A>C (p.Lys384Thr) c.1130A>C (p.Lys377Thr) c.1238A>C (p.Lys413Thr) | |
| 8 | g.93923135A>G | CA371695512 | PDP1 | c.1076A>G (p.Lys359Arg) c.1151A>G (p.Lys384Arg) c.1130A>G (p.Lys377Arg) c.1238A>G (p.Lys413Arg) | |
| 8 | g.93923135A>T | CA371695510 | PDP1 | c.1076A>T (p.Lys359Ile) c.1151A>T (p.Lys384Ile) c.1130A>T (p.Lys377Ile) c.1238A>T (p.Lys413Ile) | |
| 8 | g.93923136A>C | CA371695517 | PDP1 | c.1077A>C (p.Lys359Asn) c.1152A>C (p.Lys384Asn) c.1131A>C (p.Lys377Asn) c.1239A>C (p.Lys413Asn) | |
| 8 | g.93923136A>G | CA462117983 | PDP1 | c.1077A>G (p.Lys359=) c.1152A>G (p.Lys384=) c.1131A>G (p.Lys377=) c.1239A>G (p.Lys413=) | |
| 8 | g.93923136A>T | CA371695520 | PDP1 | c.1077A>T (p.Lys359Asn) c.1152A>T (p.Lys384Asn) c.1131A>T (p.Lys377Asn) c.1239A>T (p.Lys413Asn) | |
| 8 | g.93923137T>A | CA371695523 | PDP1 | c.1078T>A (p.Trp360Arg) c.1153T>A (p.Trp385Arg) c.1132T>A (p.Trp378Arg) c.1240T>A (p.Trp414Arg) | |
| 8 | g.93923137T>C | CA371695526 | PDP1 | c.1078T>C (p.Trp360Arg) c.1153T>C (p.Trp385Arg) c.1132T>C (p.Trp378Arg) c.1240T>C (p.Trp414Arg) | |
| 8 | g.93923137T>G | CA371695528 | PDP1 | c.1078T>G (p.Trp360Gly) c.1153T>G (p.Trp385Gly) c.1132T>G (p.Trp378Gly) c.1240T>G (p.Trp414Gly) | |
| 8 | g.93923138G>A | CA371695532 | PDP1 | c.1079G>A (p.Trp360Ter) c.1154G>A (p.Trp385Ter) c.1133G>A (p.Trp378Ter) c.1241G>A (p.Trp414Ter) | COSMIC COSMIC |
| 8 | g.93923138G>C | CA371695533 | PDP1 | c.1079G>C (p.Trp360Ser) c.1154G>C (p.Trp385Ser) c.1133G>C (p.Trp378Ser) c.1241G>C (p.Trp414Ser) | |
| 8 | g.93923138G>T | CA371695535 | PDP1 | c.1079G>T (p.Trp360Leu) c.1154G>T (p.Trp385Leu) c.1133G>T (p.Trp378Leu) c.1241G>T (p.Trp414Leu) | |
| 8 | g.93923139G>A | CA371695538 | PDP1 | c.1080G>A (p.Trp360Ter) c.1155G>A (p.Trp385Ter) c.1134G>A (p.Trp378Ter) c.1242G>A (p.Trp414Ter) | COSMIC COSMIC |
| 8 | g.93923139G>C | CA371695539 | PDP1 | c.1080G>C (p.Trp360Cys) c.1155G>C (p.Trp385Cys) c.1134G>C (p.Trp378Cys) c.1242G>C (p.Trp414Cys) | |
| 8 | g.93923139G>T | CA371695541 | PDP1 | c.1080G>T (p.Trp360Cys) c.1155G>T (p.Trp385Cys) c.1134G>T (p.Trp378Cys) c.1242G>T (p.Trp414Cys) | |
| 8 | g.93923140A>C | CA371695547 | PDP1 | c.1081A>C (p.Ser361Arg) c.1156A>C (p.Ser386Arg) c.1135A>C (p.Ser379Arg) c.1243A>C (p.Ser415Arg) | |
| 8 | g.93923140A>G | CA371695550 | PDP1 | c.1081A>G (p.Ser361Gly) c.1156A>G (p.Ser386Gly) c.1135A>G (p.Ser379Gly) c.1243A>G (p.Ser415Gly) | |
| 8 | g.93923140A>T | CA371695553 | PDP1 | c.1081A>T (p.Ser361Cys) c.1156A>T (p.Ser386Cys) c.1135A>T (p.Ser379Cys) c.1243A>T (p.Ser415Cys) | |
| 8 | g.93923141G>A | CA371695559 | PDP1 | c.1082G>A (p.Ser361Asn) c.1157G>A (p.Ser386Asn) c.1136G>A (p.Ser379Asn) c.1244G>A (p.Ser415Asn) | |
| 8 | g.93923141G>C | CA371695562 | PDP1 | c.1082G>C (p.Ser361Thr) c.1157G>C (p.Ser386Thr) c.1136G>C (p.Ser379Thr) c.1244G>C (p.Ser415Thr) | |
| 8 | g.93923141G>T | CA371695557 | PDP1 | c.1082G>T (p.Ser361Ile) c.1157G>T (p.Ser386Ile) c.1136G>T (p.Ser379Ile) c.1244G>T (p.Ser415Ile) | gnomAD v4 |
| 8 | g.93923142C>A | CA371695565 | PDP1 | c.1083C>A (p.Ser361Arg) c.1158C>A (p.Ser386Arg) c.1137C>A (p.Ser379Arg) c.1245C>A (p.Ser415Arg) | |
| 8 | g.93923142C>G | CA371695567 | PDP1 | c.1083C>G (p.Ser361Arg) c.1158C>G (p.Ser386Arg) c.1137C>G (p.Ser379Arg) c.1245C>G (p.Ser415Arg) | |
| 8 | g.93923142C>T | CA462117988 | PDP1 | c.1083C>T (p.Ser361=) c.1158C>T (p.Ser386=) c.1137C>T (p.Ser379=) c.1245C>T (p.Ser415=) | |
| 8 | g.93923143A>C | CA371695569 | PDP1 | c.1084A>C (p.Ile362Leu) c.1159A>C (p.Ile387Leu) c.1138A>C (p.Ile380Leu) c.1246A>C (p.Ile416Leu) | |
| 8 | g.93923143A>G | CA371695573 | PDP1 | c.1084A>G (p.Ile362Val) c.1159A>G (p.Ile387Val) c.1138A>G (p.Ile380Val) c.1246A>G (p.Ile416Val) | |
| 8 | g.93923143A>T | CA371695575 | PDP1 | c.1084A>T (p.Ile362Phe) c.1159A>T (p.Ile387Phe) c.1138A>T (p.Ile380Phe) c.1246A>T (p.Ile416Phe) | |
| 8 | g.93923144T>A | CA371695578 | PDP1 | c.1085T>A (p.Ile362Asn) c.1160T>A (p.Ile387Asn) c.1139T>A (p.Ile380Asn) c.1247T>A (p.Ile416Asn) | |
| 8 | g.93923144T>C | CA371695581 | PDP1 | c.1085T>C (p.Ile362Thr) c.1160T>C (p.Ile387Thr) c.1139T>C (p.Ile380Thr) c.1247T>C (p.Ile416Thr) | dbSNP |
| 8 | g.93923144T>G | CA371695583 | PDP1 | c.1085T>G (p.Ile362Ser) c.1160T>G (p.Ile387Ser) c.1139T>G (p.Ile380Ser) c.1247T>G (p.Ile416Ser) | |
| 8 | g.93923144T= | CA1803280854 | PDP1 | c.1085T= (p.Ile362=) c.1160T= (p.Ile387=) c.1139T= (p.Ile380=) c.1247T= (p.Ile416=) | |
| 8 | g.93923145T>A | CA462117989 | PDP1 | c.1086T>A (p.Ile362=) c.1161T>A (p.Ile387=) c.1140T>A (p.Ile380=) c.1248T>A (p.Ile416=) | |
| 8 | g.93923145T>C | CA462117990 | PDP1 | c.1086T>C (p.Ile362=) c.1161T>C (p.Ile387=) c.1140T>C (p.Ile380=) c.1248T>C (p.Ile416=) | gnomAD v4 |
| 8 | g.93923145T>G | CA371695586 | PDP1 | c.1086T>G (p.Ile362Met) c.1161T>G (p.Ile387Met) c.1140T>G (p.Ile380Met) c.1248T>G (p.Ile416Met) | |
| 8 | g.93923146G>A | CA371695591 | PDP1 | c.1087G>A (p.Asp363Asn) c.1162G>A (p.Asp388Asn) c.1141G>A (p.Asp381Asn) c.1249G>A (p.Asp417Asn) | |
| 8 | g.93923146G>C | CA371695593 | PDP1 | c.1087G>C (p.Asp363His) c.1162G>C (p.Asp388His) c.1141G>C (p.Asp381His) c.1249G>C (p.Asp417His) | |
| 8 | g.93923146G>T | CA371695596 | PDP1 | c.1087G>T (p.Asp363Tyr) c.1162G>T (p.Asp388Tyr) c.1141G>T (p.Asp381Tyr) c.1249G>T (p.Asp417Tyr) | COSMIC COSMIC |
| 8 | g.93923147A>C | CA371695601 | PDP1 | c.1088A>C (p.Asp363Ala) c.1163A>C (p.Asp388Ala) c.1142A>C (p.Asp381Ala) c.1250A>C (p.Asp417Ala) | |
| 8 | g.93923147A>G | CA371695604 | PDP1 | c.1088A>G (p.Asp363Gly) c.1163A>G (p.Asp388Gly) c.1142A>G (p.Asp381Gly) c.1250A>G (p.Asp417Gly) | |
| 8 | g.93923147A>T | CA371695599 | PDP1 | c.1088A>T (p.Asp363Val) c.1163A>T (p.Asp388Val) c.1142A>T (p.Asp381Val) c.1250A>T (p.Asp417Val) | |
| 8 | g.93923148C>A | CA371695607 | PDP1 | c.1089C>A (p.Asp363Glu) c.1164C>A (p.Asp388Glu) c.1143C>A (p.Asp381Glu) c.1251C>A (p.Asp417Glu) | gnomAD v4 |
| 8 | g.93923148C= | CA1803280855 | PDP1 | c.1089C= (p.Asp363=) c.1164C= (p.Asp388=) c.1143C= (p.Asp381=) c.1251C= (p.Asp417=) | |
| 8 | g.93923148C>G | CA371695611 | PDP1 | c.1089C>G (p.Asp363Glu) c.1164C>G (p.Asp388Glu) c.1143C>G (p.Asp381Glu) c.1251C>G (p.Asp417Glu) | COSMIC COSMIC |
| 8 | g.93923148C>T | CA462117994 | PDP1 | c.1089C>T (p.Asp363=) c.1164C>T (p.Asp388=) c.1143C>T (p.Asp381=) c.1251C>T (p.Asp417=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923149C>A | CA371695614 | PDP1 | c.1090C>A (p.Leu364Ile) c.1165C>A (p.Leu389Ile) c.1144C>A (p.Leu382Ile) c.1252C>A (p.Leu418Ile) | |
| 8 | g.93923149C= | CA1803280856 | PDP1 | c.1090C= (p.Leu364=) c.1165C= (p.Leu389=) c.1144C= (p.Leu382=) c.1252C= (p.Leu418=) | |
| 8 | g.93923149C>G | CA4808778 | PDP1 | c.1090C>G (p.Leu364Val) c.1165C>G (p.Leu389Val) c.1144C>G (p.Leu382Val) c.1252C>G (p.Leu418Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923149C>T | CA371695618 | PDP1 | c.1090C>T (p.Leu364Phe) c.1165C>T (p.Leu389Phe) c.1144C>T (p.Leu382Phe) c.1252C>T (p.Leu418Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923150T>A | CA371695626 | PDP1 | c.1091T>A (p.Leu364His) c.1166T>A (p.Leu389His) c.1145T>A (p.Leu382His) c.1253T>A (p.Leu418His) | |
| 8 | g.93923150T>C | CA371695623 | PDP1 | c.1091T>C (p.Leu364Pro) c.1166T>C (p.Leu389Pro) c.1145T>C (p.Leu382Pro) c.1253T>C (p.Leu418Pro) | |
| 8 | g.93923150T>G | CA371695625 | PDP1 | c.1091T>G (p.Leu364Arg) c.1166T>G (p.Leu389Arg) c.1145T>G (p.Leu382Arg) c.1253T>G (p.Leu418Arg) | |
| 8 | g.93923151T>A | CA462117999 | PDP1 | c.1092T>A (p.Leu364=) c.1167T>A (p.Leu389=) c.1146T>A (p.Leu382=) c.1254T>A (p.Leu418=) | |
| 8 | g.93923151T>C | CA462118000 | PDP1 | c.1092T>C (p.Leu364=) c.1167T>C (p.Leu389=) c.1146T>C (p.Leu382=) c.1254T>C (p.Leu418=) | |
| 8 | g.93923151T>G | CA462117998 | PDP1 | c.1092T>G (p.Leu364=) c.1167T>G (p.Leu389=) c.1146T>G (p.Leu382=) c.1254T>G (p.Leu418=) | |
| 8 | g.93923152C>A | CA371695628 | PDP1 | c.1093C>A (p.Gln365Lys) c.1168C>A (p.Gln390Lys) c.1147C>A (p.Gln383Lys) c.1255C>A (p.Gln419Lys) | |
| 8 | g.93923152C>G | CA371695631 | PDP1 | c.1093C>G (p.Gln365Glu) c.1168C>G (p.Gln390Glu) c.1147C>G (p.Gln383Glu) c.1255C>G (p.Gln419Glu) | |
| 8 | g.93923152C>T | CA371695635 | PDP1 | c.1093C>T (p.Gln365Ter) c.1168C>T (p.Gln390Ter) c.1147C>T (p.Gln383Ter) c.1255C>T (p.Gln419Ter) | |
| 8 | g.93923153A>C | CA371695638 | PDP1 | c.1094A>C (p.Gln365Pro) c.1169A>C (p.Gln390Pro) c.1148A>C (p.Gln383Pro) c.1256A>C (p.Gln419Pro) | |
| 8 | g.93923153A>G | CA371695640 | PDP1 | c.1094A>G (p.Gln365Arg) c.1169A>G (p.Gln390Arg) c.1148A>G (p.Gln383Arg) c.1256A>G (p.Gln419Arg) | gnomAD v4 |
| 8 | g.93923153A>T | CA371695643 | PDP1 | c.1094A>T (p.Gln365Leu) c.1169A>T (p.Gln390Leu) c.1148A>T (p.Gln383Leu) c.1256A>T (p.Gln419Leu) | |
| 8 | g.93923154A= | CA1803280857 | PDP1 | c.1095A= (p.Gln365=) c.1170A= (p.Gln390=) c.1149A= (p.Gln383=) c.1257A= (p.Gln419=) | |
| 8 | g.93923154A>C | CA371695645 | PDP1 | c.1095A>C (p.Gln365His) c.1170A>C (p.Gln390His) c.1149A>C (p.Gln383His) c.1257A>C (p.Gln419His) | |
| 8 | g.93923154A>G | CA462118002 | PDP1 | c.1095A>G (p.Gln365=) c.1170A>G (p.Gln390=) c.1149A>G (p.Gln383=) c.1257A>G (p.Gln419=) | ClinVar dbSNP |
| 8 | g.93923154A>T | CA371695648 | PDP1 | c.1095A>T (p.Gln365His) c.1170A>T (p.Gln390His) c.1149A>T (p.Gln383His) c.1257A>T (p.Gln419His) | |
| 8 | g.93923155A>C | CA371695651 | PDP1 | c.1096A>C (p.Lys366Gln) c.1171A>C (p.Lys391Gln) c.1150A>C (p.Lys384Gln) c.1258A>C (p.Lys420Gln) | |
| 8 | g.93923155A>G | CA371695655 | PDP1 | c.1096A>G (p.Lys366Glu) c.1171A>G (p.Lys391Glu) c.1150A>G (p.Lys384Glu) c.1258A>G (p.Lys420Glu) | |
| 8 | g.93923155A>T | CA371695654 | PDP1 | c.1096A>T (p.Lys366Ter) c.1171A>T (p.Lys391Ter) c.1150A>T (p.Lys384Ter) c.1258A>T (p.Lys420Ter) | |
| 8 | g.93923156A>C | CA371695658 | PDP1 | c.1097A>C (p.Lys366Thr) c.1172A>C (p.Lys391Thr) c.1151A>C (p.Lys384Thr) c.1259A>C (p.Lys420Thr) | |
| 8 | g.93923156A>G | CA371695660 | PDP1 | c.1097A>G (p.Lys366Arg) c.1172A>G (p.Lys391Arg) c.1151A>G (p.Lys384Arg) c.1259A>G (p.Lys420Arg) | |
| 8 | g.93923156A>T | CA371695662 | PDP1 | c.1097A>T (p.Lys366Met) c.1172A>T (p.Lys391Met) c.1151A>T (p.Lys384Met) c.1259A>T (p.Lys420Met) | |
| 8 | g.93923160_93923161del | CA2687927860 | PDP1 | c.1101_1102del (p.Arg367SerfsTer11) c.1176_1177del (p.Arg392SerfsTer11) c.1155_1156del (p.Arg385SerfsTer11) c.1263_1264del (p.Arg421SerfsTer11) | gnomAD v4 |
| 8 | g.93923157G>A | CA462118006 | PDP1 | c.1098G>A (p.Lys366=) c.1173G>A (p.Lys391=) c.1152G>A (p.Lys384=) c.1260G>A (p.Lys420=) | |
| 8 | g.93923157G>C | CA371695664 | PDP1 | c.1098G>C (p.Lys366Asn) c.1173G>C (p.Lys391Asn) c.1152G>C (p.Lys384Asn) c.1260G>C (p.Lys420Asn) | gnomAD v4 COSMIC COSMIC |
| 8 | g.93923157G>T | CA371695667 | PDP1 | c.1098G>T (p.Lys366Asn) c.1173G>T (p.Lys391Asn) c.1152G>T (p.Lys384Asn) c.1260G>T (p.Lys420Asn) | |
| 8 | g.93923158A>C | CA462118007 | PDP1 | c.1099A>C (p.Arg367=) c.1174A>C (p.Arg392=) c.1153A>C (p.Arg385=) c.1261A>C (p.Arg421=) | |
| 8 | g.93923158A>G | CA371695669 | PDP1 | c.1099A>G (p.Arg367Gly) c.1174A>G (p.Arg392Gly) c.1153A>G (p.Arg385Gly) c.1261A>G (p.Arg421Gly) | COSMIC COSMIC |
| 8 | g.93923158A>T | CA371695671 | PDP1 | c.1099A>T (p.Arg367Ter) c.1174A>T (p.Arg392Ter) c.1153A>T (p.Arg385Ter) c.1261A>T (p.Arg421Ter) | |
| 8 | g.93923159G>A | CA371695678 | PDP1 | c.1100G>A (p.Arg367Lys) c.1175G>A (p.Arg392Lys) c.1154G>A (p.Arg385Lys) c.1262G>A (p.Arg421Lys) | |
| 8 | g.93923159G>C | CA371695672 | PDP1 | c.1100G>C (p.Arg367Thr) c.1175G>C (p.Arg392Thr) c.1154G>C (p.Arg385Thr) c.1262G>C (p.Arg421Thr) | gnomAD v4 COSMIC COSMIC |
| 8 | g.93923159G>T | CA371695675 | PDP1 | c.1100G>T (p.Arg367Ile) c.1175G>T (p.Arg392Ile) c.1154G>T (p.Arg385Ile) c.1262G>T (p.Arg421Ile) | |
| 8 | g.93923160A>C | CA371695680 | PDP1 | c.1101A>C (p.Arg367Ser) c.1176A>C (p.Arg392Ser) c.1155A>C (p.Arg385Ser) c.1263A>C (p.Arg421Ser) | |
| 8 | g.93923160A>G | CA462118010 | PDP1 | c.1101A>G (p.Arg367=) c.1176A>G (p.Arg392=) c.1155A>G (p.Arg385=) c.1263A>G (p.Arg421=) | gnomAD v4 |
| 8 | g.93923160A>T | CA371695682 | PDP1 | c.1101A>T (p.Arg367Ser) c.1176A>T (p.Arg392Ser) c.1155A>T (p.Arg385Ser) c.1263A>T (p.Arg421Ser) | gnomAD v4 |
| 8 | g.93923161G>A | CA371695686 | PDP1 | c.1102G>A (p.Val368Met) c.1177G>A (p.Val393Met) c.1156G>A (p.Val386Met) c.1264G>A (p.Val422Met) | gnomAD v4 |
| 8 | g.93923161G>C | CA371695687 | PDP1 | c.1102G>C (p.Val368Leu) c.1177G>C (p.Val393Leu) c.1156G>C (p.Val386Leu) c.1264G>C (p.Val422Leu) | |
| 8 | g.93923161G>T | CA371695691 | PDP1 | c.1102G>T (p.Val368Leu) c.1177G>T (p.Val393Leu) c.1156G>T (p.Val386Leu) c.1264G>T (p.Val422Leu) | |
| 8 | g.93923162T>A | CA371695695 | PDP1 | c.1103T>A (p.Val368Glu) c.1178T>A (p.Val393Glu) c.1157T>A (p.Val386Glu) c.1265T>A (p.Val422Glu) | |
| 8 | g.93923162T>C | CA371695699 | PDP1 | c.1103T>C (p.Val368Ala) c.1178T>C (p.Val393Ala) c.1157T>C (p.Val386Ala) c.1265T>C (p.Val422Ala) | |
| 8 | g.93923162T>G | CA371695697 | PDP1 | c.1103T>G (p.Val368Gly) c.1178T>G (p.Val393Gly) c.1157T>G (p.Val386Gly) c.1265T>G (p.Val422Gly) | |
| 8 | g.93923163G>A | CA4808779 | PDP1 | c.1104G>A (p.Val368=) c.1179G>A (p.Val393=) c.1158G>A (p.Val386=) c.1266G>A (p.Val422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923163G>C | CA462118012 | PDP1 | c.1104G>C (p.Val368=) c.1179G>C (p.Val393=) c.1158G>C (p.Val386=) c.1266G>C (p.Val422=) | dbSNP gnomAD v4 |
| 8 | g.93923163G= | CA1803280858 | PDP1 | c.1104G= (p.Val368=) c.1179G= (p.Val393=) c.1158G= (p.Val386=) c.1266G= (p.Val422=) | |
| 8 | g.93923163G>T | CA462118013 | PDP1 | c.1104G>T (p.Val368=) c.1179G>T (p.Val393=) c.1158G>T (p.Val386=) c.1266G>T (p.Val422=) | |
| 8 | g.93923164A>C | CA371695702 | PDP1 | c.1105A>C (p.Ile369Leu) c.1180A>C (p.Ile394Leu) c.1159A>C (p.Ile387Leu) c.1267A>C (p.Ile423Leu) | |
| 8 | g.93923164A>G | CA371695705 | PDP1 | c.1105A>G (p.Ile369Val) c.1180A>G (p.Ile394Val) c.1159A>G (p.Ile387Val) c.1267A>G (p.Ile423Val) | gnomAD v4 |
| 8 | g.93923164A>T | CA371695707 | PDP1 | c.1105A>T (p.Ile369Leu) c.1180A>T (p.Ile394Leu) c.1159A>T (p.Ile387Leu) c.1267A>T (p.Ile423Leu) | |
| 8 | g.93923165T>A | CA371695709 | PDP1 | c.1106T>A (p.Ile369Lys) c.1181T>A (p.Ile394Lys) c.1160T>A (p.Ile387Lys) c.1268T>A (p.Ile423Lys) | |
| 8 | g.93923165T>C | CA371695711 | PDP1 | c.1106T>C (p.Ile369Thr) c.1181T>C (p.Ile394Thr) c.1160T>C (p.Ile387Thr) c.1268T>C (p.Ile423Thr) | |
| 8 | g.93923165T>G | CA371695713 | PDP1 | c.1106T>G (p.Ile369Arg) c.1181T>G (p.Ile394Arg) c.1160T>G (p.Ile387Arg) c.1268T>G (p.Ile423Arg) | |
| 8 | g.93923166A= | CA1803280859 | PDP1 | c.1107A= (p.Ile369=) c.1182A= (p.Ile394=) c.1161A= (p.Ile387=) c.1269A= (p.Ile423=) | |
| 8 | g.93923166A>C | CA462118016 | PDP1 | c.1107A>C (p.Ile369=) c.1182A>C (p.Ile394=) c.1161A>C (p.Ile387=) c.1269A>C (p.Ile423=) | |
| 8 | g.93923166A>G | CA4808780 | PDP1 | c.1107A>G (p.Ile369Met) c.1182A>G (p.Ile394Met) c.1161A>G (p.Ile387Met) c.1269A>G (p.Ile423Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923166A>T | CA462118017 | PDP1 | c.1107A>T (p.Ile369=) c.1182A>T (p.Ile394=) c.1161A>T (p.Ile387=) c.1269A>T (p.Ile423=) | |
| 8 | g.93923167G>A | CA371695718 | PDP1 | c.1108G>A (p.Glu370Lys) c.1183G>A (p.Glu395Lys) c.1162G>A (p.Glu388Lys) c.1270G>A (p.Glu424Lys) | |
| 8 | g.93923167G>C | CA371695720 | PDP1 | c.1108G>C (p.Glu370Gln) c.1183G>C (p.Glu395Gln) c.1162G>C (p.Glu388Gln) c.1270G>C (p.Glu424Gln) | |
| 8 | g.93923167G>T | CA371695723 | PDP1 | c.1108G>T (p.Glu370Ter) c.1183G>T (p.Glu395Ter) c.1162G>T (p.Glu388Ter) c.1270G>T (p.Glu424Ter) | |
| 8 | g.93923168A>C | CA371695727 | PDP1 | c.1109A>C (p.Glu370Ala) c.1184A>C (p.Glu395Ala) c.1163A>C (p.Glu388Ala) c.1271A>C (p.Glu424Ala) | |
| 8 | g.93923168A>G | CA371695732 | PDP1 | c.1109A>G (p.Glu370Gly) c.1184A>G (p.Glu395Gly) c.1163A>G (p.Glu388Gly) c.1271A>G (p.Glu424Gly) | |
| 8 | g.93923168A>T | CA371695729 | PDP1 | c.1109A>T (p.Glu370Val) c.1184A>T (p.Glu395Val) c.1163A>T (p.Glu388Val) c.1271A>T (p.Glu424Val) | |
| 8 | g.93923169A= | CA1803280860 | PDP1 | c.1110A= (p.Glu370=) c.1185A= (p.Glu395=) c.1164A= (p.Glu388=) c.1272A= (p.Glu424=) | |
| 8 | g.93923169A>C | CA181376016 | PDP1 | c.1110A>C (p.Glu370Asp) c.1185A>C (p.Glu395Asp) c.1164A>C (p.Glu388Asp) c.1272A>C (p.Glu424Asp) | dbSNP |
| 8 | g.93923169A>G | CA462118019 | PDP1 | c.1110A>G (p.Glu370=) c.1185A>G (p.Glu395=) c.1164A>G (p.Glu388=) c.1272A>G (p.Glu424=) | |
| 8 | g.93923169A>T | CA371695735 | PDP1 | c.1110A>T (p.Glu370Asp) c.1185A>T (p.Glu395Asp) c.1164A>T (p.Glu388Asp) c.1272A>T (p.Glu424Asp) | gnomAD v4 |
| 8 | g.93923170T>A | CA371695738 | PDP1 | c.1111T>A (p.Ser371Thr) c.1186T>A (p.Ser396Thr) c.1165T>A (p.Ser389Thr) c.1273T>A (p.Ser425Thr) | |
| 8 | g.93923170T>C | CA371695739 | PDP1 | c.1111T>C (p.Ser371Pro) c.1186T>C (p.Ser396Pro) c.1165T>C (p.Ser389Pro) c.1273T>C (p.Ser425Pro) | |
| 8 | g.93923170T>G | CA371695741 | PDP1 | c.1111T>G (p.Ser371Ala) c.1186T>G (p.Ser396Ala) c.1165T>G (p.Ser389Ala) c.1273T>G (p.Ser425Ala) | gnomAD v4 |
| 8 | g.93923171C>A | CA371695744 | PDP1 | c.1112C>A (p.Ser371Tyr) c.1187C>A (p.Ser396Tyr) c.1166C>A (p.Ser389Tyr) c.1274C>A (p.Ser425Tyr) | |
| 8 | g.93923171C>G | CA371695746 | PDP1 | c.1112C>G (p.Ser371Cys) c.1187C>G (p.Ser396Cys) c.1166C>G (p.Ser389Cys) c.1274C>G (p.Ser425Cys) | |
| 8 | g.93923171C>T | CA371695750 | PDP1 | c.1112C>T (p.Ser371Phe) c.1187C>T (p.Ser396Phe) c.1166C>T (p.Ser389Phe) c.1274C>T (p.Ser425Phe) | |
| 8 | g.93923172T>A | CA462118023 | PDP1 | c.1113T>A (p.Ser371=) c.1188T>A (p.Ser396=) c.1167T>A (p.Ser389=) c.1275T>A (p.Ser425=) | |
| 8 | g.93923172T>C | CA462118025 | PDP1 | c.1113T>C (p.Ser371=) c.1188T>C (p.Ser396=) c.1167T>C (p.Ser389=) c.1275T>C (p.Ser425=) | |
| 8 | g.93923172T>G | CA462118024 | PDP1 | c.1113T>G (p.Ser371=) c.1188T>G (p.Ser396=) c.1167T>G (p.Ser389=) c.1275T>G (p.Ser425=) | |
| 8 | g.93923173G>A | CA371695757 | PDP1 | c.1114G>A (p.Gly372Ser) c.1189G>A (p.Gly397Ser) c.1168G>A (p.Gly390Ser) c.1276G>A (p.Gly426Ser) | |
| 8 | g.93923173G>C | CA371695758 | PDP1 | c.1114G>C (p.Gly372Arg) c.1189G>C (p.Gly397Arg) c.1168G>C (p.Gly390Arg) c.1276G>C (p.Gly426Arg) | |
| 8 | g.93923173G>T | CA371695760 | PDP1 | c.1114G>T (p.Gly372Cys) c.1189G>T (p.Gly397Cys) c.1168G>T (p.Gly390Cys) c.1276G>T (p.Gly426Cys) | |
| 8 | g.93923174G>A | CA371695769 | PDP1 | c.1115G>A (p.Gly372Asp) c.1190G>A (p.Gly397Asp) c.1169G>A (p.Gly390Asp) c.1277G>A (p.Gly426Asp) | COSMIC COSMIC |
| 8 | g.93923174G>C | CA371695765 | PDP1 | c.1115G>C (p.Gly372Ala) c.1190G>C (p.Gly397Ala) c.1169G>C (p.Gly390Ala) c.1277G>C (p.Gly426Ala) | |
| 8 | g.93923174G>T | CA371695764 | PDP1 | c.1115G>T (p.Gly372Val) c.1190G>T (p.Gly397Val) c.1169G>T (p.Gly390Val) c.1277G>T (p.Gly426Val) | |
| 8 | g.93923175C>A | CA462118027 | PDP1 | c.1116C>A (p.Gly372=) c.1191C>A (p.Gly397=) c.1170C>A (p.Gly390=) c.1278C>A (p.Gly426=) | |
| 8 | g.93923175C>G | CA462118028 | PDP1 | c.1116C>G (p.Gly372=) c.1191C>G (p.Gly397=) c.1170C>G (p.Gly390=) c.1278C>G (p.Gly426=) | gnomAD v4 |
| 8 | g.93923175C>T | CA462118029 | PDP1 | c.1116C>T (p.Gly372=) c.1191C>T (p.Gly397=) c.1170C>T (p.Gly390=) c.1278C>T (p.Gly426=) | |
| 8 | g.93923176C>A | CA371695772 | PDP1 | c.1117C>A (p.Pro373Thr) c.1192C>A (p.Pro398Thr) c.1171C>A (p.Pro391Thr) c.1279C>A (p.Pro427Thr) | |
| 8 | g.93923176C>G | CA371695774 | PDP1 | c.1117C>G (p.Pro373Ala) c.1192C>G (p.Pro398Ala) c.1171C>G (p.Pro391Ala) c.1279C>G (p.Pro427Ala) | |
| 8 | g.93923176C>T | CA371695776 | PDP1 | c.1117C>T (p.Pro373Ser) c.1192C>T (p.Pro398Ser) c.1171C>T (p.Pro391Ser) c.1279C>T (p.Pro427Ser) | |
| 8 | g.93923177C>A | CA371695779 | PDP1 | c.1118C>A (p.Pro373Gln) c.1193C>A (p.Pro398Gln) c.1172C>A (p.Pro391Gln) c.1280C>A (p.Pro427Gln) | |
| 8 | g.93923177C>G | CA371695781 | PDP1 | c.1118C>G (p.Pro373Arg) c.1193C>G (p.Pro398Arg) c.1172C>G (p.Pro391Arg) c.1280C>G (p.Pro427Arg) | |
| 8 | g.93923177C>T | CA371695783 | PDP1 | c.1118C>T (p.Pro373Leu) c.1193C>T (p.Pro398Leu) c.1172C>T (p.Pro391Leu) c.1280C>T (p.Pro427Leu) | |
| 8 | g.93923178A= | CA1803280861 | PDP1 | c.1119A= (p.Pro373=) c.1194A= (p.Pro398=) c.1173A= (p.Pro391=) c.1281A= (p.Pro427=) | |
| 8 | g.93923178A>C | CA462118033 | PDP1 | c.1119A>C (p.Pro373=) c.1194A>C (p.Pro398=) c.1173A>C (p.Pro391=) c.1281A>C (p.Pro427=) | |
| 8 | g.93923178A>G | CA4808781 | PDP1 | c.1119A>G (p.Pro373=) c.1194A>G (p.Pro398=) c.1173A>G (p.Pro391=) c.1281A>G (p.Pro427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923178A>T | CA462118035 | PDP1 | c.1119A>T (p.Pro373=) c.1194A>T (p.Pro398=) c.1173A>T (p.Pro391=) c.1281A>T (p.Pro427=) | gnomAD v4 |