| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 8 | g.93923179G>A | CA371695789 | PDP1 | c.1120G>A (p.Asp374Asn) c.1195G>A (p.Asp399Asn) c.1174G>A (p.Asp392Asn) c.1282G>A (p.Asp428Asn) | gnomAD v4 |
| 8 | g.93923179G>C | CA371695793 | PDP1 | c.1120G>C (p.Asp374His) c.1195G>C (p.Asp399His) c.1174G>C (p.Asp392His) c.1282G>C (p.Asp428His) | |
| 8 | g.93923179G>T | CA371695795 | PDP1 | c.1120G>T (p.Asp374Tyr) c.1195G>T (p.Asp399Tyr) c.1174G>T (p.Asp392Tyr) c.1282G>T (p.Asp428Tyr) | |
| 8 | g.93923180A>C | CA371695798 | PDP1 | c.1121A>C (p.Asp374Ala) c.1196A>C (p.Asp399Ala) c.1175A>C (p.Asp392Ala) c.1283A>C (p.Asp428Ala) | |
| 8 | g.93923180A>G | CA371695801 | PDP1 | c.1121A>G (p.Asp374Gly) c.1196A>G (p.Asp399Gly) c.1175A>G (p.Asp392Gly) c.1283A>G (p.Asp428Gly) | |
| 8 | g.93923180A>T | CA371695805 | PDP1 | c.1121A>T (p.Asp374Val) c.1196A>T (p.Asp399Val) c.1175A>T (p.Asp392Val) c.1283A>T (p.Asp428Val) | |
| 8 | g.93923181C>A | CA371695809 | PDP1 | c.1122C>A (p.Asp374Glu) c.1197C>A (p.Asp399Glu) c.1176C>A (p.Asp392Glu) c.1284C>A (p.Asp428Glu) | |
| 8 | g.93923181C>G | CA371695808 | PDP1 | c.1122C>G (p.Asp374Glu) c.1197C>G (p.Asp399Glu) c.1176C>G (p.Asp392Glu) c.1284C>G (p.Asp428Glu) | |
| 8 | g.93923181C>T | CA462118039 | PDP1 | c.1122C>T (p.Asp374=) c.1197C>T (p.Asp399=) c.1176C>T (p.Asp392=) c.1284C>T (p.Asp428=) | |
| 8 | g.93923182C>A | CA371695813 | PDP1 | c.1123C>A (p.Gln375Lys) c.1198C>A (p.Gln400Lys) c.1177C>A (p.Gln393Lys) c.1285C>A (p.Gln429Lys) | |
| 8 | g.93923182C>G | CA371695816 | PDP1 | c.1123C>G (p.Gln375Glu) c.1198C>G (p.Gln400Glu) c.1177C>G (p.Gln393Glu) c.1285C>G (p.Gln429Glu) | gnomAD v4 |
| 8 | g.93923182C>T | CA371695817 | PDP1 | c.1123C>T (p.Gln375Ter) c.1198C>T (p.Gln400Ter) c.1177C>T (p.Gln393Ter) c.1285C>T (p.Gln429Ter) | |
| 8 | g.93923183A>C | CA371695820 | PDP1 | c.1124A>C (p.Gln375Pro) c.1199A>C (p.Gln400Pro) c.1178A>C (p.Gln393Pro) c.1286A>C (p.Gln429Pro) | |
| 8 | g.93923183A>G | CA371695822 | PDP1 | c.1124A>G (p.Gln375Arg) c.1199A>G (p.Gln400Arg) c.1178A>G (p.Gln393Arg) c.1286A>G (p.Gln429Arg) | |
| 8 | g.93923183A>T | CA371695825 | PDP1 | c.1124A>T (p.Gln375Leu) c.1199A>T (p.Gln400Leu) c.1178A>T (p.Gln393Leu) c.1286A>T (p.Gln429Leu) | |
| 8 | g.93923184G>A | CA462118042 | PDP1 | c.1125G>A (p.Gln375=) c.1200G>A (p.Gln400=) c.1179G>A (p.Gln393=) c.1287G>A (p.Gln429=) | |
| 8 | g.93923184G>C | CA371695827 | PDP1 | c.1125G>C (p.Gln375His) c.1200G>C (p.Gln400His) c.1179G>C (p.Gln393His) c.1287G>C (p.Gln429His) | |
| 8 | g.93923184G>T | CA371695830 | PDP1 | c.1125G>T (p.Gln375His) c.1200G>T (p.Gln400His) c.1179G>T (p.Gln393His) c.1287G>T (p.Gln429His) | |
| 8 | g.93923185T>A | CA371695834 | PDP1 | c.1126T>A (p.Leu376Met) c.1201T>A (p.Leu401Met) c.1180T>A (p.Leu394Met) c.1288T>A (p.Leu430Met) | |
| 8 | g.93923185T>C | CA462118043 | PDP1 | c.1126T>C (p.Leu376=) c.1201T>C (p.Leu401=) c.1180T>C (p.Leu394=) c.1288T>C (p.Leu430=) | gnomAD v4 |
| 8 | g.93923185T>G | CA371695836 | PDP1 | c.1126T>G (p.Leu376Val) c.1201T>G (p.Leu401Val) c.1180T>G (p.Leu394Val) c.1288T>G (p.Leu430Val) | |
| 8 | g.93923186T>A | CA371695837 | PDP1 | c.1127T>A (p.Leu376Ter) c.1202T>A (p.Leu401Ter) c.1181T>A (p.Leu394Ter) c.1289T>A (p.Leu430Ter) | |
| 8 | g.93923186T>C | CA371695838 | PDP1 | c.1127T>C (p.Leu376Ser) c.1202T>C (p.Leu401Ser) c.1181T>C (p.Leu394Ser) c.1289T>C (p.Leu430Ser) | |
| 8 | g.93923186T>G | CA371695839 | PDP1 | c.1127T>G (p.Leu376Trp) c.1202T>G (p.Leu401Trp) c.1181T>G (p.Leu394Trp) c.1289T>G (p.Leu430Trp) | |
| 8 | g.93923187G>A | CA462118044 | PDP1 | c.1128G>A (p.Leu376=) c.1203G>A (p.Leu401=) c.1182G>A (p.Leu394=) c.1290G>A (p.Leu430=) | gnomAD v4 |
| 8 | g.93923187G>C | CA371695841 | PDP1 | c.1128G>C (p.Leu376Phe) c.1203G>C (p.Leu401Phe) c.1182G>C (p.Leu394Phe) c.1290G>C (p.Leu430Phe) | |
| 8 | g.93923187G>T | CA371695843 | PDP1 | c.1128G>T (p.Leu376Phe) c.1203G>T (p.Leu401Phe) c.1182G>T (p.Leu394Phe) c.1290G>T (p.Leu430Phe) | |
| 8 | g.93923188A= | CA1803280862 | PDP1 | c.1129A= (p.Asn377=) c.1204A= (p.Asn402=) c.1183A= (p.Asn395=) c.1291A= (p.Asn431=) | |
| 8 | g.93923188A>C | CA371695845 | PDP1 | c.1129A>C (p.Asn377His) c.1204A>C (p.Asn402His) c.1183A>C (p.Asn395His) c.1291A>C (p.Asn431His) | COSMIC COSMIC |
| 8 | g.93923188A>G | CA371695844 | PDP1 | c.1129A>G (p.Asn377Asp) c.1204A>G (p.Asn402Asp) c.1183A>G (p.Asn395Asp) c.1291A>G (p.Asn431Asp) | |
| 8 | g.93923188A>T | CA4808782 | PDP1 | c.1129A>T (p.Asn377Tyr) c.1204A>T (p.Asn402Tyr) c.1183A>T (p.Asn395Tyr) c.1291A>T (p.Asn431Tyr) | dbSNP ExAC |
| 8 | g.93923189A= | CA1803280863 | PDP1 | c.1130A= (p.Asn377=) c.1205A= (p.Asn402=) c.1184A= (p.Asn395=) c.1292A= (p.Asn431=) | |
| 8 | g.93923189A>C | CA371695846 | PDP1 | c.1130A>C (p.Asn377Thr) c.1205A>C (p.Asn402Thr) c.1184A>C (p.Asn395Thr) c.1292A>C (p.Asn431Thr) | |
| 8 | g.93923189A>G | CA4808783 | PDP1 | c.1130A>G (p.Asn377Ser) c.1205A>G (p.Asn402Ser) c.1184A>G (p.Asn395Ser) c.1292A>G (p.Asn431Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.93923189A>T | CA371695849 | PDP1 | c.1130A>T (p.Asn377Ile) c.1205A>T (p.Asn402Ile) c.1184A>T (p.Asn395Ile) c.1292A>T (p.Asn431Ile) | |
| 8 | g.93923190T>A | CA371695850 | PDP1 | c.1131T>A (p.Asn377Lys) c.1206T>A (p.Asn402Lys) c.1185T>A (p.Asn395Lys) c.1293T>A (p.Asn431Lys) | |
| 8 | g.93923190T>C | CA462118046 | PDP1 | c.1131T>C (p.Asn377=) c.1206T>C (p.Asn402=) c.1185T>C (p.Asn395=) c.1293T>C (p.Asn431=) | |
| 8 | g.93923190T>G | CA371695852 | PDP1 | c.1131T>G (p.Asn377Lys) c.1206T>G (p.Asn402Lys) c.1185T>G (p.Asn395Lys) c.1293T>G (p.Asn431Lys) | |
| 8 | g.93923191G>A | CA371695854 | PDP1 | c.1132G>A (p.Asp378Asn) c.1207G>A (p.Asp403Asn) c.1186G>A (p.Asp396Asn) c.1294G>A (p.Asp432Asn) | |
| 8 | g.93923191G>C | CA371695856 | PDP1 | c.1132G>C (p.Asp378His) c.1207G>C (p.Asp403His) c.1186G>C (p.Asp396His) c.1294G>C (p.Asp432His) | |
| 8 | g.93923191G>T | CA371695860 | PDP1 | c.1132G>T (p.Asp378Tyr) c.1207G>T (p.Asp403Tyr) c.1186G>T (p.Asp396Tyr) c.1294G>T (p.Asp432Tyr) | gnomAD v4 |
| 8 | g.93923192A>C | CA371695863 | PDP1 | c.1133A>C (p.Asp378Ala) c.1208A>C (p.Asp403Ala) c.1187A>C (p.Asp396Ala) c.1295A>C (p.Asp432Ala) | |
| 8 | g.93923192A>G | CA371695865 | PDP1 | c.1133A>G (p.Asp378Gly) c.1208A>G (p.Asp403Gly) c.1187A>G (p.Asp396Gly) c.1295A>G (p.Asp432Gly) | |
| 8 | g.93923192A>T | CA371695868 | PDP1 | c.1133A>T (p.Asp378Val) c.1208A>T (p.Asp403Val) c.1187A>T (p.Asp396Val) c.1295A>T (p.Asp432Val) | |
| 8 | g.93923193C>A | CA371695871 | PDP1 | c.1134C>A (p.Asp378Glu) c.1209C>A (p.Asp403Glu) c.1188C>A (p.Asp396Glu) c.1296C>A (p.Asp432Glu) | |
| 8 | g.93923193C>G | CA371695873 | PDP1 | c.1134C>G (p.Asp378Glu) c.1209C>G (p.Asp403Glu) c.1188C>G (p.Asp396Glu) c.1296C>G (p.Asp432Glu) | |
| 8 | g.93923193C>T | CA462118047 | PDP1 | c.1134C>T (p.Asp378=) c.1209C>T (p.Asp403=) c.1188C>T (p.Asp396=) c.1296C>T (p.Asp432=) | |
| 8 | g.93923194A>C | CA371695878 | PDP1 | c.1135A>C (p.Asn379His) c.1210A>C (p.Asn404His) c.1189A>C (p.Asn397His) c.1297A>C (p.Asn433His) | |
| 8 | g.93923194A>G | CA371695882 | PDP1 | c.1135A>G (p.Asn379Asp) c.1210A>G (p.Asn404Asp) c.1189A>G (p.Asn397Asp) c.1297A>G (p.Asn433Asp) | |
| 8 | g.93923194A>T | CA371695879 | PDP1 | c.1135A>T (p.Asn379Tyr) c.1210A>T (p.Asn404Tyr) c.1189A>T (p.Asn397Tyr) c.1297A>T (p.Asn433Tyr) | |
| 8 | g.93923195A= | CA1803280864 | PDP1 | c.1136A= (p.Asn379=) c.1211A= (p.Asn404=) c.1190A= (p.Asn397=) c.1298A= (p.Asn433=) | |
| 8 | g.93923195A>C | CA371695885 | PDP1 | c.1136A>C (p.Asn379Thr) c.1211A>C (p.Asn404Thr) c.1190A>C (p.Asn397Thr) c.1298A>C (p.Asn433Thr) | |
| 8 | g.93923195A>G | CA371695888 | PDP1 | c.1136A>G (p.Asn379Ser) c.1211A>G (p.Asn404Ser) c.1190A>G (p.Asn397Ser) c.1298A>G (p.Asn433Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.93923195A>T | CA371695891 | PDP1 | c.1136A>T (p.Asn379Ile) c.1211A>T (p.Asn404Ile) c.1190A>T (p.Asn397Ile) c.1298A>T (p.Asn433Ile) | |
| 8 | g.93923196T>A | CA371695893 | PDP1 | c.1137T>A (p.Asn379Lys) c.1212T>A (p.Asn404Lys) c.1191T>A (p.Asn397Lys) c.1299T>A (p.Asn433Lys) | |
| 8 | g.93923196T>C | CA462118050 | PDP1 | c.1137T>C (p.Asn379=) c.1212T>C (p.Asn404=) c.1191T>C (p.Asn397=) c.1299T>C (p.Asn433=) | |
| 8 | g.93923196T>G | CA371695896 | PDP1 | c.1137T>G (p.Asn379Lys) c.1212T>G (p.Asn404Lys) c.1191T>G (p.Asn397Lys) c.1299T>G (p.Asn433Lys) | |
| 8 | g.93923197G>A | CA371695900 | PDP1 | c.1138G>A (p.Glu380Lys) c.1213G>A (p.Glu405Lys) c.1192G>A (p.Glu398Lys) c.1300G>A (p.Glu434Lys) | |
| 8 | g.93923197G>C | CA371695901 | PDP1 | c.1138G>C (p.Glu380Gln) c.1213G>C (p.Glu405Gln) c.1192G>C (p.Glu398Gln) c.1300G>C (p.Glu434Gln) | gnomAD v4 |
| 8 | g.93923197G>T | CA371695905 | PDP1 | c.1138G>T (p.Glu380Ter) c.1213G>T (p.Glu405Ter) c.1192G>T (p.Glu398Ter) c.1300G>T (p.Glu434Ter) | |
| 8 | g.93923198A= | CA1803280865 | PDP1 | c.1139A= (p.Glu380=) c.1214A= (p.Glu405=) c.1193A= (p.Glu398=) c.1301A= (p.Glu434=) | |
| 8 | g.93923198A>C | CA371695908 | PDP1 | c.1139A>C (p.Glu380Ala) c.1214A>C (p.Glu405Ala) c.1193A>C (p.Glu398Ala) c.1301A>C (p.Glu434Ala) | dbSNP gnomAD v4 |
| 8 | g.93923198A>G | CA371695910 | PDP1 | c.1139A>G (p.Glu380Gly) c.1214A>G (p.Glu405Gly) c.1193A>G (p.Glu398Gly) c.1301A>G (p.Glu434Gly) | |
| 8 | g.93923198A>T | CA371695914 | PDP1 | c.1139A>T (p.Glu380Val) c.1214A>T (p.Glu405Val) c.1193A>T (p.Glu398Val) c.1301A>T (p.Glu434Val) | |
| 8 | g.93923199A>C | CA371695917 | PDP1 | c.1140A>C (p.Glu380Asp) c.1215A>C (p.Glu405Asp) c.1194A>C (p.Glu398Asp) c.1302A>C (p.Glu434Asp) | gnomAD v4 |
| 8 | g.93923199A>G | CA462118054 | PDP1 | c.1140A>G (p.Glu380=) c.1215A>G (p.Glu405=) c.1194A>G (p.Glu398=) c.1302A>G (p.Glu434=) | gnomAD v4 |
| 8 | g.93923199A>T | CA371695918 | PDP1 | c.1140A>T (p.Glu380Asp) c.1215A>T (p.Glu405Asp) c.1194A>T (p.Glu398Asp) c.1302A>T (p.Glu434Asp) | |
| 8 | g.93923200T>A | CA371695926 | PDP1 | c.1141T>A (p.Tyr381Asn) c.1216T>A (p.Tyr406Asn) c.1195T>A (p.Tyr399Asn) c.1303T>A (p.Tyr435Asn) | |
| 8 | g.93923200T>C | CA371695921 | PDP1 | c.1141T>C (p.Tyr381His) c.1216T>C (p.Tyr406His) c.1195T>C (p.Tyr399His) c.1303T>C (p.Tyr435His) | |
| 8 | g.93923200T>G | CA371695923 | PDP1 | c.1141T>G (p.Tyr381Asp) c.1216T>G (p.Tyr406Asp) c.1195T>G (p.Tyr399Asp) c.1303T>G (p.Tyr435Asp) | |
| 8 | g.93923201A= | CA1803280866 | PDP1 | c.1142A= (p.Tyr381=) c.1217A= (p.Tyr406=) c.1196A= (p.Tyr399=) c.1304A= (p.Tyr435=) | |
| 8 | g.93923201A>C | CA371695927 | PDP1 | c.1142A>C (p.Tyr381Ser) c.1217A>C (p.Tyr406Ser) c.1196A>C (p.Tyr399Ser) c.1304A>C (p.Tyr435Ser) | |
| 8 | g.93923201A>G | CA371695931 | PDP1 | c.1142A>G (p.Tyr381Cys) c.1217A>G (p.Tyr406Cys) c.1196A>G (p.Tyr399Cys) c.1304A>G (p.Tyr435Cys) | dbSNP |
| 8 | g.93923201A>T | CA371695933 | PDP1 | c.1142A>T (p.Tyr381Phe) c.1217A>T (p.Tyr406Phe) c.1196A>T (p.Tyr399Phe) c.1304A>T (p.Tyr435Phe) | |
| 8 | g.93923202T>A | CA371695936 | PDP1 | c.1143T>A (p.Tyr381Ter) c.1218T>A (p.Tyr406Ter) c.1197T>A (p.Tyr399Ter) c.1305T>A (p.Tyr435Ter) | |
| 8 | g.93923202T>C | CA4808784 | PDP1 | c.1143T>C (p.Tyr381=) c.1218T>C (p.Tyr406=) c.1197T>C (p.Tyr399=) c.1305T>C (p.Tyr435=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923202T>G | CA371695939 | PDP1 | c.1143T>G (p.Tyr381Ter) c.1218T>G (p.Tyr406Ter) c.1197T>G (p.Tyr399Ter) c.1305T>G (p.Tyr435Ter) | |
| 8 | g.93923202T= | CA1803280867 | PDP1 | c.1143T= (p.Tyr381=) c.1218T= (p.Tyr406=) c.1197T= (p.Tyr399=) c.1305T= (p.Tyr435=) | |
| 8 | g.93923202_93923205del | CA2687927864 | PDP1 | c.1143_1146del (p.Tyr381Ter) c.1218_1221del (p.Tyr406Ter) c.1197_1200del (p.Tyr399Ter) c.1305_1308del (p.Tyr435Ter) | gnomAD v4 |
| 8 | g.93923203A>C | CA371695942 | PDP1 | c.1144A>C (p.Thr382Pro) c.1219A>C (p.Thr407Pro) c.1198A>C (p.Thr400Pro) c.1306A>C (p.Thr436Pro) | |
| 8 | g.93923203A>G | CA371695944 | PDP1 | c.1144A>G (p.Thr382Ala) c.1219A>G (p.Thr407Ala) c.1198A>G (p.Thr400Ala) c.1306A>G (p.Thr436Ala) | |
| 8 | g.93923203A>T | CA371695947 | PDP1 | c.1144A>T (p.Thr382Ser) c.1219A>T (p.Thr407Ser) c.1198A>T (p.Thr400Ser) c.1306A>T (p.Thr436Ser) | |
| 8 | g.93923204C>A | CA371695949 | PDP1 | c.1145C>A (p.Thr382Asn) c.1220C>A (p.Thr407Asn) c.1199C>A (p.Thr400Asn) c.1307C>A (p.Thr436Asn) | |
| 8 | g.93923204C= | CA1803280868 | PDP1 | c.1145C= (p.Thr382=) c.1220C= (p.Thr407=) c.1199C= (p.Thr400=) c.1307C= (p.Thr436=) | |
| 8 | g.93923204C>G | CA371695951 | PDP1 | c.1145C>G (p.Thr382Ser) c.1220C>G (p.Thr407Ser) c.1199C>G (p.Thr400Ser) c.1307C>G (p.Thr436Ser) | |
| 8 | g.93923204C>T | CA371695954 | PDP1 | c.1145C>T (p.Thr382Ile) c.1220C>T (p.Thr407Ile) c.1199C>T (p.Thr400Ile) c.1307C>T (p.Thr436Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923205C>A | CA462118056 | PDP1 | c.1146C>A (p.Thr382=) c.1221C>A (p.Thr407=) c.1200C>A (p.Thr400=) c.1308C>A (p.Thr436=) | |
| 8 | g.93923205C= | CA1803280869 | PDP1 | c.1146C= (p.Thr382=) c.1221C= (p.Thr407=) c.1200C= (p.Thr400=) c.1308C= (p.Thr436=) | |
| 8 | g.93923205C>G | CA462118058 | PDP1 | c.1146C>G (p.Thr382=) c.1221C>G (p.Thr407=) c.1200C>G (p.Thr400=) c.1308C>G (p.Thr436=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923205C>T | CA462118061 | PDP1 | c.1146C>T (p.Thr382=) c.1221C>T (p.Thr407=) c.1200C>T (p.Thr400=) c.1308C>T (p.Thr436=) | |
| 8 | g.93923206A= | CA1803280870 | PDP1 | c.1147A= (p.Lys383=) c.1222A= (p.Lys408=) c.1201A= (p.Lys401=) c.1309A= (p.Lys437=) | |
| 8 | g.93923206A>C | CA371695957 | PDP1 | c.1147A>C (p.Lys383Gln) c.1222A>C (p.Lys408Gln) c.1201A>C (p.Lys401Gln) c.1309A>C (p.Lys437Gln) | |
| 8 | g.93923206A>G | CA371695961 | PDP1 | c.1147A>G (p.Lys383Glu) c.1222A>G (p.Lys408Glu) c.1201A>G (p.Lys401Glu) c.1309A>G (p.Lys437Glu) | dbSNP |
| 8 | g.93923206A>T | CA371695959 | PDP1 | c.1147A>T (p.Lys383Ter) c.1222A>T (p.Lys408Ter) c.1201A>T (p.Lys401Ter) c.1309A>T (p.Lys437Ter) | |
| 8 | g.93923207A>C | CA371695963 | PDP1 | c.1148A>C (p.Lys383Thr) c.1223A>C (p.Lys408Thr) c.1202A>C (p.Lys401Thr) c.1310A>C (p.Lys437Thr) | |
| 8 | g.93923207A>G | CA371695969 | PDP1 | c.1148A>G (p.Lys383Arg) c.1223A>G (p.Lys408Arg) c.1202A>G (p.Lys401Arg) c.1310A>G (p.Lys437Arg) | |
| 8 | g.93923207A>T | CA371695965 | PDP1 | c.1148A>T (p.Lys383Met) c.1223A>T (p.Lys408Met) c.1202A>T (p.Lys401Met) c.1310A>T (p.Lys437Met) | |
| 8 | g.93923207_93923208insCTTG | CA2687927865 | PDP1 | c.1148_1149insCTTG (p.Lys383AsnfsTer7) c.1223_1224insCTTG (p.Lys408AsnfsTer7) c.1202_1203insCTTG (p.Lys401AsnfsTer7) c.1310_1311insCTTG (p.Lys437AsnfsTer7) | gnomAD v4 |
| 8 | g.93923208G>A | CA462118065 | PDP1 | c.1149G>A (p.Lys383=) c.1224G>A (p.Lys408=) c.1203G>A (p.Lys401=) c.1311G>A (p.Lys437=) | |
| 8 | g.93923208G>C | CA371695971 | PDP1 | c.1149G>C (p.Lys383Asn) c.1224G>C (p.Lys408Asn) c.1203G>C (p.Lys401Asn) c.1311G>C (p.Lys437Asn) | gnomAD v4 |
| 8 | g.93923208G>T | CA371695972 | PDP1 | c.1149G>T (p.Lys383Asn) c.1224G>T (p.Lys408Asn) c.1203G>T (p.Lys401Asn) c.1311G>T (p.Lys437Asn) | |
| 8 | g.93923209T>A | CA371695974 | PDP1 | c.1150T>A (p.Phe384Ile) c.1225T>A (p.Phe409Ile) c.1204T>A (p.Phe402Ile) c.1312T>A (p.Phe438Ile) | |
| 8 | g.93923209T>C | CA371695978 | PDP1 | c.1150T>C (p.Phe384Leu) c.1225T>C (p.Phe409Leu) c.1204T>C (p.Phe402Leu) c.1312T>C (p.Phe438Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923209T>G | CA371695976 | PDP1 | c.1150T>G (p.Phe384Val) c.1225T>G (p.Phe409Val) c.1204T>G (p.Phe402Val) c.1312T>G (p.Phe438Val) | |
| 8 | g.93923209T= | CA1803280871 | PDP1 | c.1150T= (p.Phe384=) c.1225T= (p.Phe409=) c.1204T= (p.Phe402=) c.1312T= (p.Phe438=) | |
| 8 | g.93923210T>A | CA371695980 | PDP1 | c.1151T>A (p.Phe384Tyr) c.1226T>A (p.Phe409Tyr) c.1205T>A (p.Phe402Tyr) c.1313T>A (p.Phe438Tyr) | gnomAD v4 |
| 8 | g.93923210T>C | CA371695982 | PDP1 | c.1151T>C (p.Phe384Ser) c.1226T>C (p.Phe409Ser) c.1205T>C (p.Phe402Ser) c.1313T>C (p.Phe438Ser) | gnomAD v4 |
| 8 | g.93923210T>G | CA371695984 | PDP1 | c.1151T>G (p.Phe384Cys) c.1226T>G (p.Phe409Cys) c.1205T>G (p.Phe402Cys) c.1313T>G (p.Phe438Cys) | gnomAD v4 |
| 8 | g.93923211T>A | CA371695985 | PDP1 | c.1152T>A (p.Phe384Leu) c.1227T>A (p.Phe409Leu) c.1206T>A (p.Phe402Leu) c.1314T>A (p.Phe438Leu) | |
| 8 | g.93923211T>C | CA462118074 | PDP1 | c.1152T>C (p.Phe384=) c.1227T>C (p.Phe409=) c.1206T>C (p.Phe402=) c.1314T>C (p.Phe438=) | |
| 8 | g.93923211T>G | CA371695986 | PDP1 | c.1152T>G (p.Phe384Leu) c.1227T>G (p.Phe409Leu) c.1206T>G (p.Phe402Leu) c.1314T>G (p.Phe438Leu) | gnomAD v4 |
| 8 | g.93923212A= | CA1803280872 | PDP1 | c.1153A= (p.Ile385=) c.1228A= (p.Ile410=) c.1207A= (p.Ile403=) c.1315A= (p.Ile439=) | |
| 8 | g.93923212A>C | CA371695988 | PDP1 | c.1153A>C (p.Ile385Leu) c.1228A>C (p.Ile410Leu) c.1207A>C (p.Ile403Leu) c.1315A>C (p.Ile439Leu) | |
| 8 | g.93923212A>G | CA371695990 | PDP1 | c.1153A>G (p.Ile385Val) c.1228A>G (p.Ile410Val) c.1207A>G (p.Ile403Val) c.1315A>G (p.Ile439Val) | |
| 8 | g.93923212A>T | CA4808785 | PDP1 | c.1153A>T (p.Ile385Phe) c.1228A>T (p.Ile410Phe) c.1207A>T (p.Ile403Phe) c.1315A>T (p.Ile439Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923213T>A | CA371695993 | PDP1 | c.1154T>A (p.Ile385Asn) c.1229T>A (p.Ile410Asn) c.1208T>A (p.Ile403Asn) c.1316T>A (p.Ile439Asn) | |
| 8 | g.93923213T>C | CA371695995 | PDP1 | c.1154T>C (p.Ile385Thr) c.1229T>C (p.Ile410Thr) c.1208T>C (p.Ile403Thr) c.1316T>C (p.Ile439Thr) | |
| 8 | g.93923213T>G | CA371695996 | PDP1 | c.1154T>G (p.Ile385Ser) c.1229T>G (p.Ile410Ser) c.1208T>G (p.Ile403Ser) c.1316T>G (p.Ile439Ser) | |
| 8 | g.93923214T>A | CA462118077 | PDP1 | c.1155T>A (p.Ile385=) c.1230T>A (p.Ile410=) c.1209T>A (p.Ile403=) c.1317T>A (p.Ile439=) | |
| 8 | g.93923214T>C | CA462118080 | PDP1 | c.1155T>C (p.Ile385=) c.1230T>C (p.Ile410=) c.1209T>C (p.Ile403=) c.1317T>C (p.Ile439=) | |
| 8 | g.93923214T>G | CA371695998 | PDP1 | c.1155T>G (p.Ile385Met) c.1230T>G (p.Ile410Met) c.1209T>G (p.Ile403Met) c.1317T>G (p.Ile439Met) | |
| 8 | g.93923215C>A | CA371696004 | PDP1 | c.1156C>A (p.Pro386Thr) c.1231C>A (p.Pro411Thr) c.1210C>A (p.Pro404Thr) c.1318C>A (p.Pro440Thr) | |
| 8 | g.93923215C= | CA1803280873 | PDP1 | c.1156C= (p.Pro386=) c.1231C= (p.Pro411=) c.1210C= (p.Pro404=) c.1318C= (p.Pro440=) | |
| 8 | g.93923215C>G | CA371696000 | PDP1 | c.1156C>G (p.Pro386Ala) c.1231C>G (p.Pro411Ala) c.1210C>G (p.Pro404Ala) c.1318C>G (p.Pro440Ala) | gnomAD v4 |
| 8 | g.93923215C>T | CA371696002 | PDP1 | c.1156C>T (p.Pro386Ser) c.1231C>T (p.Pro411Ser) c.1210C>T (p.Pro404Ser) c.1318C>T (p.Pro440Ser) | dbSNP gnomAD v4 |
| 8 | g.93923216C>A | CA371696005 | PDP1 | c.1157C>A (p.Pro386His) c.1232C>A (p.Pro411His) c.1211C>A (p.Pro404His) c.1319C>A (p.Pro440His) | |
| 8 | g.93923216C>G | CA371696007 | PDP1 | c.1157C>G (p.Pro386Arg) c.1232C>G (p.Pro411Arg) c.1211C>G (p.Pro404Arg) c.1319C>G (p.Pro440Arg) | |
| 8 | g.93923216C>T | CA371696009 | PDP1 | c.1157C>T (p.Pro386Leu) c.1232C>T (p.Pro411Leu) c.1211C>T (p.Pro404Leu) c.1319C>T (p.Pro440Leu) | |
| 8 | g.93923217T>A | CA462118088 | PDP1 | c.1158T>A (p.Pro386=) c.1233T>A (p.Pro411=) c.1212T>A (p.Pro404=) c.1320T>A (p.Pro440=) | |
| 8 | g.93923217T>C | CA4808786 | PDP1 | c.1158T>C (p.Pro386=) c.1233T>C (p.Pro411=) c.1212T>C (p.Pro404=) c.1320T>C (p.Pro440=) | dbSNP ExAC gnomAD v2 |
| 8 | g.93923217T>G | CA462118091 | PDP1 | c.1158T>G (p.Pro386=) c.1233T>G (p.Pro411=) c.1212T>G (p.Pro404=) c.1320T>G (p.Pro440=) | |
| 8 | g.93923217T= | CA1803280874 | PDP1 | c.1158T= (p.Pro386=) c.1233T= (p.Pro411=) c.1212T= (p.Pro404=) c.1320T= (p.Pro440=) | |
| 8 | g.93923217_93923218delinsTC | CA1803280875 | PDP1 | c.1158_1159delinsTC (p.Pro386=) c.1233_1234delinsTC (p.Pro411=) c.1212_1213delinsTC (p.Pro404=) c.1320_1321delinsTC (p.Pro440=) | |
| 8 | g.93923218C>A | CA371696012 | PDP1 | c.1159C>A (p.Pro387Thr) c.1234C>A (p.Pro412Thr) c.1213C>A (p.Pro405Thr) c.1321C>A (p.Pro441Thr) | |
| 8 | g.93923218C>G | CA371696014 | PDP1 | c.1159C>G (p.Pro387Ala) c.1234C>G (p.Pro412Ala) c.1213C>G (p.Pro405Ala) c.1321C>G (p.Pro441Ala) | |
| 8 | g.93923218C>T | CA371696015 | PDP1 | c.1159C>T (p.Pro387Ser) c.1234C>T (p.Pro412Ser) c.1213C>T (p.Pro405Ser) c.1321C>T (p.Pro441Ser) | |
| 8 | g.93923219del | CA583844358 | PDP1 | c.1160del (p.Pro387LeufsTer15) c.1235del (p.Pro412LeufsTer15) c.1214del (p.Pro405LeufsTer15) c.1322del (p.Pro441LeufsTer15) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923219C>A | CA371696018 | PDP1 | c.1160C>A (p.Pro387His) c.1235C>A (p.Pro412His) c.1214C>A (p.Pro405His) c.1322C>A (p.Pro441His) | |
| 8 | g.93923219C>G | CA371696019 | PDP1 | c.1160C>G (p.Pro387Arg) c.1235C>G (p.Pro412Arg) c.1214C>G (p.Pro405Arg) c.1322C>G (p.Pro441Arg) | ClinVar |
| 8 | g.93923219C>T | CA371696020 | PDP1 | c.1160C>T (p.Pro387Leu) c.1235C>T (p.Pro412Leu) c.1214C>T (p.Pro405Leu) c.1322C>T (p.Pro441Leu) | |
| 8 | g.93923220T>A | CA462118098 | PDP1 | c.1161T>A (p.Pro387=) c.1236T>A (p.Pro412=) c.1215T>A (p.Pro405=) c.1323T>A (p.Pro441=) | |
| 8 | g.93923220T>C | CA462118097 | PDP1 | c.1161T>C (p.Pro387=) c.1236T>C (p.Pro412=) c.1215T>C (p.Pro405=) c.1323T>C (p.Pro441=) | |
| 8 | g.93923220T>G | CA462118096 | PDP1 | c.1161T>G (p.Pro387=) c.1236T>G (p.Pro412=) c.1215T>G (p.Pro405=) c.1323T>G (p.Pro441=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923220T= | CA1803280876 | PDP1 | c.1161T= (p.Pro387=) c.1236T= (p.Pro412=) c.1215T= (p.Pro405=) c.1323T= (p.Pro441=) | |
| 8 | g.93923221A= | CA1803280877 | PDP1 | c.1162A= (p.Asn388=) c.1237A= (p.Asn413=) c.1216A= (p.Asn406=) c.1324A= (p.Asn442=) | |
| 8 | g.93923221A>C | CA371696025 | PDP1 | c.1162A>C (p.Asn388His) c.1237A>C (p.Asn413His) c.1216A>C (p.Asn406His) c.1324A>C (p.Asn442His) | dbSNP |
| 8 | g.93923221A>G | CA371696024 | PDP1 | c.1162A>G (p.Asn388Asp) c.1237A>G (p.Asn413Asp) c.1216A>G (p.Asn406Asp) c.1324A>G (p.Asn442Asp) | |
| 8 | g.93923221A>T | CA371696022 | PDP1 | c.1162A>T (p.Asn388Tyr) c.1237A>T (p.Asn413Tyr) c.1216A>T (p.Asn406Tyr) c.1324A>T (p.Asn442Tyr) | |
| 8 | g.93923222A>C | CA371696028 | PDP1 | c.1163A>C (p.Asn388Thr) c.1238A>C (p.Asn413Thr) c.1217A>C (p.Asn406Thr) c.1325A>C (p.Asn442Thr) | |
| 8 | g.93923222A>G | CA371696030 | PDP1 | c.1163A>G (p.Asn388Ser) c.1238A>G (p.Asn413Ser) c.1217A>G (p.Asn406Ser) c.1325A>G (p.Asn442Ser) | |
| 8 | g.93923222A>T | CA371696031 | PDP1 | c.1163A>T (p.Asn388Ile) c.1238A>T (p.Asn413Ile) c.1217A>T (p.Asn406Ile) c.1325A>T (p.Asn442Ile) | |
| 8 | g.93923223T>A | CA371696033 | PDP1 | c.1164T>A (p.Asn388Lys) c.1239T>A (p.Asn413Lys) c.1218T>A (p.Asn406Lys) c.1326T>A (p.Asn442Lys) | |
| 8 | g.93923223T>C | CA462118100 | PDP1 | c.1164T>C (p.Asn388=) c.1239T>C (p.Asn413=) c.1218T>C (p.Asn406=) c.1326T>C (p.Asn442=) | |
| 8 | g.93923223T>G | CA371696035 | PDP1 | c.1164T>G (p.Asn388Lys) c.1239T>G (p.Asn413Lys) c.1218T>G (p.Asn406Lys) c.1326T>G (p.Asn442Lys) | |
| 8 | g.93923224T>A | CA371696038 | PDP1 | c.1165T>A (p.Tyr389Asn) c.1240T>A (p.Tyr414Asn) c.1219T>A (p.Tyr407Asn) c.1327T>A (p.Tyr443Asn) | gnomAD v4 |
| 8 | g.93923224T>C | CA371696040 | PDP1 | c.1165T>C (p.Tyr389His) c.1240T>C (p.Tyr414His) c.1219T>C (p.Tyr407His) c.1327T>C (p.Tyr443His) | |
| 8 | g.93923224T>G | CA371696042 | PDP1 | c.1165T>G (p.Tyr389Asp) c.1240T>G (p.Tyr414Asp) c.1219T>G (p.Tyr407Asp) c.1327T>G (p.Tyr443Asp) | |
| 8 | g.93923225A>C | CA371696044 | PDP1 | c.1166A>C (p.Tyr389Ser) c.1241A>C (p.Tyr414Ser) c.1220A>C (p.Tyr407Ser) c.1328A>C (p.Tyr443Ser) | |
| 8 | g.93923225A>G | CA371696045 | PDP1 | c.1166A>G (p.Tyr389Cys) c.1241A>G (p.Tyr414Cys) c.1220A>G (p.Tyr407Cys) c.1328A>G (p.Tyr443Cys) | gnomAD v4 |
| 8 | g.93923225A>T | CA371696048 | PDP1 | c.1166A>T (p.Tyr389Phe) c.1241A>T (p.Tyr414Phe) c.1220A>T (p.Tyr407Phe) c.1328A>T (p.Tyr443Phe) | |
| 8 | g.93923226T>A | CA371696052 | PDP1 | c.1167T>A (p.Tyr389Ter) c.1242T>A (p.Tyr414Ter) c.1221T>A (p.Tyr407Ter) c.1329T>A (p.Tyr443Ter) | |
| 8 | g.93923226T>C | CA462118105 | PDP1 | c.1167T>C (p.Tyr389=) c.1242T>C (p.Tyr414=) c.1221T>C (p.Tyr407=) c.1329T>C (p.Tyr443=) | |
| 8 | g.93923226T>G | CA371696054 | PDP1 | c.1167T>G (p.Tyr389Ter) c.1242T>G (p.Tyr414Ter) c.1221T>G (p.Tyr407Ter) c.1329T>G (p.Tyr443Ter) | |
| 8 | g.93923227C>A | CA371696058 | PDP1 | c.1168C>A (p.His390Asn) c.1243C>A (p.His415Asn) c.1222C>A (p.His408Asn) c.1330C>A (p.His444Asn) | |
| 8 | g.93923227C= | CA1803280878 | PDP1 | c.1168C= (p.His390=) c.1243C= (p.His415=) c.1222C= (p.His408=) c.1330C= (p.His444=) | |
| 8 | g.93923227C>G | CA371696056 | PDP1 | c.1168C>G (p.His390Asp) c.1243C>G (p.His415Asp) c.1222C>G (p.His408Asp) c.1330C>G (p.His444Asp) | |
| 8 | g.93923227C>T | CA181376025 | PDP1 | c.1168C>T (p.His390Tyr) c.1243C>T (p.His415Tyr) c.1222C>T (p.His408Tyr) c.1330C>T (p.His444Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923228A= | CA1803280879 | PDP1 | c.1169A= (p.His390=) c.1244A= (p.His415=) c.1223A= (p.His408=) c.1331A= (p.His444=) | |
| 8 | g.93923228A>C | CA4808787 | PDP1 | c.1169A>C (p.His390Pro) c.1244A>C (p.His415Pro) c.1223A>C (p.His408Pro) c.1331A>C (p.His444Pro) | dbSNP ExAC gnomAD v2 |
| 8 | g.93923228A>G | CA371696060 | PDP1 | c.1169A>G (p.His390Arg) c.1244A>G (p.His415Arg) c.1223A>G (p.His408Arg) c.1331A>G (p.His444Arg) | |
| 8 | g.93923228A>T | CA371696065 | PDP1 | c.1169A>T (p.His390Leu) c.1244A>T (p.His415Leu) c.1223A>T (p.His408Leu) c.1331A>T (p.His444Leu) | |
| 8 | g.93923229C>A | CA371696067 | PDP1 | c.1170C>A (p.His390Gln) c.1245C>A (p.His415Gln) c.1224C>A (p.His408Gln) c.1332C>A (p.His444Gln) | |
| 8 | g.93923229C>G | CA371696069 | PDP1 | c.1170C>G (p.His390Gln) c.1245C>G (p.His415Gln) c.1224C>G (p.His408Gln) c.1332C>G (p.His444Gln) | |
| 8 | g.93923229C>T | CA462118108 | PDP1 | c.1170C>T (p.His390=) c.1245C>T (p.His415=) c.1224C>T (p.His408=) c.1332C>T (p.His444=) | gnomAD v4 |
| 8 | g.93923230A= | CA1803280880 | PDP1 | c.1171A= (p.Thr391=) c.1246A= (p.Thr416=) c.1225A= (p.Thr409=) c.1333A= (p.Thr445=) | |
| 8 | g.93923230A>C | CA371696071 | PDP1 | c.1171A>C (p.Thr391Pro) c.1246A>C (p.Thr416Pro) c.1225A>C (p.Thr409Pro) c.1333A>C (p.Thr445Pro) | |
| 8 | g.93923230A>G | CA371696072 | PDP1 | c.1171A>G (p.Thr391Ala) c.1246A>G (p.Thr416Ala) c.1225A>G (p.Thr409Ala) c.1333A>G (p.Thr445Ala) | |
| 8 | g.93923230A>T | CA4808788 | PDP1 | c.1171A>T (p.Thr391Ser) c.1246A>T (p.Thr416Ser) c.1225A>T (p.Thr409Ser) c.1333A>T (p.Thr445Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923231C>A | CA371696074 | PDP1 | c.1172C>A (p.Thr391Lys) c.1247C>A (p.Thr416Lys) c.1226C>A (p.Thr409Lys) c.1334C>A (p.Thr445Lys) | |
| 8 | g.93923231C>G | CA371696077 | PDP1 | c.1172C>G (p.Thr391Arg) c.1247C>G (p.Thr416Arg) c.1226C>G (p.Thr409Arg) c.1334C>G (p.Thr445Arg) | |
| 8 | g.93923231C>T | CA371696079 | PDP1 | c.1172C>T (p.Thr391Ile) c.1247C>T (p.Thr416Ile) c.1226C>T (p.Thr409Ile) c.1334C>T (p.Thr445Ile) | gnomAD v4 |
| 8 | g.93923232A= | CA1803280881 | PDP1 | c.1173A= (p.Thr391=) c.1248A= (p.Thr416=) c.1227A= (p.Thr409=) c.1335A= (p.Thr445=) | |
| 8 | g.93923232A>C | CA462118111 | PDP1 | c.1173A>C (p.Thr391=) c.1248A>C (p.Thr416=) c.1227A>C (p.Thr409=) c.1335A>C (p.Thr445=) | gnomAD v4 |
| 8 | g.93923232A>G | CA181376032 | PDP1 | c.1173A>G (p.Thr391=) c.1248A>G (p.Thr416=) c.1227A>G (p.Thr409=) c.1335A>G (p.Thr445=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923232A>T | CA462118112 | PDP1 | c.1173A>T (p.Thr391=) c.1248A>T (p.Thr416=) c.1227A>T (p.Thr409=) c.1335A>T (p.Thr445=) | |
| 8 | g.93923233C>A | CA371696085 | PDP1 | c.1174C>A (p.Pro392Thr) c.1249C>A (p.Pro417Thr) c.1228C>A (p.Pro410Thr) c.1336C>A (p.Pro446Thr) | gnomAD v4 |
| 8 | g.93923233C= | CA1803280882 | PDP1 | c.1174C= (p.Pro392=) c.1249C= (p.Pro417=) c.1228C= (p.Pro410=) c.1336C= (p.Pro446=) | |
| 8 | g.93923233C>G | CA371696083 | PDP1 | c.1174C>G (p.Pro392Ala) c.1249C>G (p.Pro417Ala) c.1228C>G (p.Pro410Ala) c.1336C>G (p.Pro446Ala) | |
| 8 | g.93923233C>T | CA371696081 | PDP1 | c.1174C>T (p.Pro392Ser) c.1249C>T (p.Pro417Ser) c.1228C>T (p.Pro410Ser) c.1336C>T (p.Pro446Ser) | dbSNP |
| 8 | g.93923234C>A | CA371696087 | PDP1 | c.1175C>A (p.Pro392His) c.1250C>A (p.Pro417His) c.1229C>A (p.Pro410His) c.1337C>A (p.Pro446His) | |
| 8 | g.93923234C>G | CA371696091 | PDP1 | c.1175C>G (p.Pro392Arg) c.1250C>G (p.Pro417Arg) c.1229C>G (p.Pro410Arg) c.1337C>G (p.Pro446Arg) | |
| 8 | g.93923234C>T | CA371696089 | PDP1 | c.1175C>T (p.Pro392Leu) c.1250C>T (p.Pro417Leu) c.1229C>T (p.Pro410Leu) c.1337C>T (p.Pro446Leu) | |
| 8 | g.93923235T>A | CA462118113 | PDP1 | c.1176T>A (p.Pro392=) c.1251T>A (p.Pro417=) c.1230T>A (p.Pro410=) c.1338T>A (p.Pro446=) | gnomAD v4 |
| 8 | g.93923235T>C | CA462118114 | PDP1 | c.1176T>C (p.Pro392=) c.1251T>C (p.Pro417=) c.1230T>C (p.Pro410=) c.1338T>C (p.Pro446=) | |
| 8 | g.93923235T>G | CA4808789 | PDP1 | c.1176T>G (p.Pro392=) c.1251T>G (p.Pro417=) c.1230T>G (p.Pro410=) c.1338T>G (p.Pro446=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923235T= | CA1803280883 | PDP1 | c.1176T= (p.Pro392=) c.1251T= (p.Pro417=) c.1230T= (p.Pro410=) c.1338T= (p.Pro446=) | |
| 8 | g.93923236C>A | CA371696093 | PDP1 | c.1177C>A (p.Pro393Thr) c.1252C>A (p.Pro418Thr) c.1231C>A (p.Pro411Thr) c.1339C>A (p.Pro447Thr) | |
| 8 | g.93923236C>G | CA371696094 | PDP1 | c.1177C>G (p.Pro393Ala) c.1252C>G (p.Pro418Ala) c.1231C>G (p.Pro411Ala) c.1339C>G (p.Pro447Ala) | COSMIC |
| 8 | g.93923236C>T | CA371696095 | PDP1 | c.1177C>T (p.Pro393Ser) c.1252C>T (p.Pro418Ser) c.1231C>T (p.Pro411Ser) c.1339C>T (p.Pro447Ser) | gnomAD v4 |
| 8 | g.93923237C>A | CA371696098 | PDP1 | c.1178C>A (p.Pro393His) c.1253C>A (p.Pro418His) c.1232C>A (p.Pro411His) c.1340C>A (p.Pro447His) | |
| 8 | g.93923237C>G | CA371696102 | PDP1 | c.1178C>G (p.Pro393Arg) c.1253C>G (p.Pro418Arg) c.1232C>G (p.Pro411Arg) c.1340C>G (p.Pro447Arg) | |
| 8 | g.93923237C>T | CA371696104 | PDP1 | c.1178C>T (p.Pro393Leu) c.1253C>T (p.Pro418Leu) c.1232C>T (p.Pro411Leu) c.1340C>T (p.Pro447Leu) | COSMIC COSMIC |
| 8 | g.93923238T>A | CA462118117 | PDP1 | c.1179T>A (p.Pro393=) c.1254T>A (p.Pro418=) c.1233T>A (p.Pro411=) c.1341T>A (p.Pro447=) | |
| 8 | g.93923238T>C | CA462118119 | PDP1 | c.1179T>C (p.Pro393=) c.1254T>C (p.Pro418=) c.1233T>C (p.Pro411=) c.1341T>C (p.Pro447=) | |
| 8 | g.93923238T>G | CA462118121 | PDP1 | c.1179T>G (p.Pro393=) c.1254T>G (p.Pro418=) c.1233T>G (p.Pro411=) c.1341T>G (p.Pro447=) | |
| 8 | g.93923239T>A | CA371696106 | PDP1 | c.1180T>A (p.Tyr394Asn) c.1255T>A (p.Tyr419Asn) c.1234T>A (p.Tyr412Asn) c.1342T>A (p.Tyr448Asn) | gnomAD v4 |
| 8 | g.93923239T>C | CA371696108 | PDP1 | c.1180T>C (p.Tyr394His) c.1255T>C (p.Tyr419His) c.1234T>C (p.Tyr412His) c.1342T>C (p.Tyr448His) | |
| 8 | g.93923239T>G | CA371696109 | PDP1 | c.1180T>G (p.Tyr394Asp) c.1255T>G (p.Tyr419Asp) c.1234T>G (p.Tyr412Asp) c.1342T>G (p.Tyr448Asp) | |
| 8 | g.93923240A>C | CA371696115 | PDP1 | c.1181A>C (p.Tyr394Ser) c.1256A>C (p.Tyr419Ser) c.1235A>C (p.Tyr412Ser) c.1343A>C (p.Tyr448Ser) | |
| 8 | g.93923240A>G | CA371696114 | PDP1 | c.1181A>G (p.Tyr394Cys) c.1256A>G (p.Tyr419Cys) c.1235A>G (p.Tyr412Cys) c.1343A>G (p.Tyr448Cys) | |
| 8 | g.93923240A>T | CA371696112 | PDP1 | c.1181A>T (p.Tyr394Phe) c.1256A>T (p.Tyr419Phe) c.1235A>T (p.Tyr412Phe) c.1343A>T (p.Tyr448Phe) | |
| 8 | g.93923241T>A | CA371696117 | PDP1 | c.1182T>A (p.Tyr394Ter) c.1257T>A (p.Tyr419Ter) c.1236T>A (p.Tyr412Ter) c.1344T>A (p.Tyr448Ter) | |
| 8 | g.93923241T>C | CA4808790 | PDP1 | c.1182T>C (p.Tyr394=) c.1257T>C (p.Tyr419=) c.1236T>C (p.Tyr412=) c.1344T>C (p.Tyr448=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923241T>G | CA371696120 | PDP1 | c.1182T>G (p.Tyr394Ter) c.1257T>G (p.Tyr419Ter) c.1236T>G (p.Tyr412Ter) c.1344T>G (p.Tyr448Ter) | |
| 8 | g.93923241T= | CA1803280884 | PDP1 | c.1182T= (p.Tyr394=) c.1257T= (p.Tyr419=) c.1236T= (p.Tyr412=) c.1344T= (p.Tyr448=) | |
| 8 | g.93923242C>A | CA371696122 | PDP1 | c.1183C>A (p.Leu395Ile) c.1258C>A (p.Leu420Ile) c.1237C>A (p.Leu413Ile) c.1345C>A (p.Leu449Ile) | |
| 8 | g.93923242C>G | CA371696124 | PDP1 | c.1183C>G (p.Leu395Val) c.1258C>G (p.Leu420Val) c.1237C>G (p.Leu413Val) c.1345C>G (p.Leu449Val) | |
| 8 | g.93923242C>T | CA371696125 | PDP1 | c.1183C>T (p.Leu395Phe) c.1258C>T (p.Leu420Phe) c.1237C>T (p.Leu413Phe) c.1345C>T (p.Leu449Phe) | |
| 8 | g.93923243T>A | CA371696127 | PDP1 | c.1184T>A (p.Leu395His) c.1259T>A (p.Leu420His) c.1238T>A (p.Leu413His) c.1346T>A (p.Leu449His) | |
| 8 | g.93923243T>C | CA371696129 | PDP1 | c.1184T>C (p.Leu395Pro) c.1259T>C (p.Leu420Pro) c.1238T>C (p.Leu413Pro) c.1346T>C (p.Leu449Pro) | |
| 8 | g.93923243T>G | CA371696131 | PDP1 | c.1184T>G (p.Leu395Arg) c.1259T>G (p.Leu420Arg) c.1238T>G (p.Leu413Arg) c.1346T>G (p.Leu449Arg) | |
| 8 | g.93923244C>A | CA462118126 | PDP1 | c.1185C>A (p.Leu395=) c.1260C>A (p.Leu420=) c.1239C>A (p.Leu413=) c.1347C>A (p.Leu449=) | |
| 8 | g.93923244C>G | CA462118128 | PDP1 | c.1185C>G (p.Leu395=) c.1260C>G (p.Leu420=) c.1239C>G (p.Leu413=) c.1347C>G (p.Leu449=) | |
| 8 | g.93923244C>T | CA462118129 | PDP1 | c.1185C>T (p.Leu395=) c.1260C>T (p.Leu420=) c.1239C>T (p.Leu413=) c.1347C>T (p.Leu449=) | |
| 8 | g.93923245A>C | CA371696134 | PDP1 | c.1186A>C (p.Thr396Pro) c.1261A>C (p.Thr421Pro) c.1240A>C (p.Thr414Pro) c.1348A>C (p.Thr450Pro) | gnomAD v4 |
| 8 | g.93923245A>G | CA371696135 | PDP1 | c.1186A>G (p.Thr396Ala) c.1261A>G (p.Thr421Ala) c.1240A>G (p.Thr414Ala) c.1348A>G (p.Thr450Ala) | |
| 8 | g.93923245A>T | CA371696137 | PDP1 | c.1186A>T (p.Thr396Ser) c.1261A>T (p.Thr421Ser) c.1240A>T (p.Thr414Ser) c.1348A>T (p.Thr450Ser) | |
| 8 | g.93923246C>A | CA371696141 | PDP1 | c.1187C>A (p.Thr396Asn) c.1262C>A (p.Thr421Asn) c.1241C>A (p.Thr414Asn) c.1349C>A (p.Thr450Asn) | |
| 8 | g.93923246C>G | CA371696142 | PDP1 | c.1187C>G (p.Thr396Ser) c.1262C>G (p.Thr421Ser) c.1241C>G (p.Thr414Ser) c.1349C>G (p.Thr450Ser) | |
| 8 | g.93923246C>T | CA371696139 | PDP1 | c.1187C>T (p.Thr396Ile) c.1262C>T (p.Thr421Ile) c.1241C>T (p.Thr414Ile) c.1349C>T (p.Thr450Ile) | |
| 8 | g.93923247T>A | CA462118131 | PDP1 | c.1188T>A (p.Thr396=) c.1263T>A (p.Thr421=) c.1242T>A (p.Thr414=) c.1350T>A (p.Thr450=) | |
| 8 | g.93923247T>C | CA462118133 | PDP1 | c.1188T>C (p.Thr396=) c.1263T>C (p.Thr421=) c.1242T>C (p.Thr414=) c.1350T>C (p.Thr450=) | |
| 8 | g.93923247T>G | CA462118135 | PDP1 | c.1188T>G (p.Thr396=) c.1263T>G (p.Thr421=) c.1242T>G (p.Thr414=) c.1350T>G (p.Thr450=) | |
| 8 | g.93923248G>A | CA371696145 | PDP1 | c.1189G>A (p.Ala397Thr) c.1264G>A (p.Ala422Thr) c.1243G>A (p.Ala415Thr) c.1351G>A (p.Ala451Thr) | |
| 8 | g.93923248G>C | CA371696146 | PDP1 | c.1189G>C (p.Ala397Pro) c.1264G>C (p.Ala422Pro) c.1243G>C (p.Ala415Pro) c.1351G>C (p.Ala451Pro) | |
| 8 | g.93923248G>T | CA371696148 | PDP1 | c.1189G>T (p.Ala397Ser) c.1264G>T (p.Ala422Ser) c.1243G>T (p.Ala415Ser) c.1351G>T (p.Ala451Ser) | |
| 8 | g.93923249C>A | CA371696150 | PDP1 | c.1190C>A (p.Ala397Asp) c.1265C>A (p.Ala422Asp) c.1244C>A (p.Ala415Asp) c.1352C>A (p.Ala451Asp) | |
| 8 | g.93923249C>G | CA371696152 | PDP1 | c.1190C>G (p.Ala397Gly) c.1265C>G (p.Ala422Gly) c.1244C>G (p.Ala415Gly) c.1352C>G (p.Ala451Gly) | |
| 8 | g.93923249C>T | CA371696154 | PDP1 | c.1190C>T (p.Ala397Val) c.1265C>T (p.Ala422Val) c.1244C>T (p.Ala415Val) c.1352C>T (p.Ala451Val) | |
| 8 | g.93923250T>A | CA462118137 | PDP1 | c.1191T>A (p.Ala397=) c.1266T>A (p.Ala422=) c.1245T>A (p.Ala415=) c.1353T>A (p.Ala451=) | |
| 8 | g.93923250T>C | CA462118138 | PDP1 | c.1191T>C (p.Ala397=) c.1266T>C (p.Ala422=) c.1245T>C (p.Ala415=) c.1353T>C (p.Ala451=) | |
| 8 | g.93923250T>G | CA462118139 | PDP1 | c.1191T>G (p.Ala397=) c.1266T>G (p.Ala422=) c.1245T>G (p.Ala415=) c.1353T>G (p.Ala451=) | |
| 8 | g.93923251G>A | CA371696159 | PDP1 | c.1192G>A (p.Glu398Lys) c.1267G>A (p.Glu423Lys) c.1246G>A (p.Glu416Lys) c.1354G>A (p.Glu452Lys) | |
| 8 | g.93923251G>C | CA371696156 | PDP1 | c.1192G>C (p.Glu398Gln) c.1267G>C (p.Glu423Gln) c.1246G>C (p.Glu416Gln) c.1354G>C (p.Glu452Gln) | |
| 8 | g.93923251G>T | CA371696158 | PDP1 | c.1192G>T (p.Glu398Ter) c.1267G>T (p.Glu423Ter) c.1246G>T (p.Glu416Ter) c.1354G>T (p.Glu452Ter) | |
| 8 | g.93923252A>C | CA371696161 | PDP1 | c.1193A>C (p.Glu398Ala) c.1268A>C (p.Glu423Ala) c.1247A>C (p.Glu416Ala) c.1355A>C (p.Glu452Ala) | |
| 8 | g.93923252A>G | CA371696163 | PDP1 | c.1193A>G (p.Glu398Gly) c.1268A>G (p.Glu423Gly) c.1247A>G (p.Glu416Gly) c.1355A>G (p.Glu452Gly) | |
| 8 | g.93923252A>T | CA371696165 | PDP1 | c.1193A>T (p.Glu398Val) c.1268A>T (p.Glu423Val) c.1247A>T (p.Glu416Val) c.1355A>T (p.Glu452Val) | |
| 8 | g.93923253G>A | CA462118141 | PDP1 | c.1194G>A (p.Glu398=) c.1269G>A (p.Glu423=) c.1248G>A (p.Glu416=) c.1356G>A (p.Glu452=) | |
| 8 | g.93923253G>C | CA371696167 | PDP1 | c.1194G>C (p.Glu398Asp) c.1269G>C (p.Glu423Asp) c.1248G>C (p.Glu416Asp) c.1356G>C (p.Glu452Asp) | |
| 8 | g.93923253G>T | CA371696169 | PDP1 | c.1194G>T (p.Glu398Asp) c.1269G>T (p.Glu423Asp) c.1248G>T (p.Glu416Asp) c.1356G>T (p.Glu452Asp) | |
| 8 | g.93923254C>A | CA371696171 | PDP1 | c.1195C>A (p.Pro399Thr) c.1270C>A (p.Pro424Thr) c.1249C>A (p.Pro417Thr) c.1357C>A (p.Pro453Thr) | |
| 8 | g.93923254C= | CA1803280885 | PDP1 | c.1195C= (p.Pro399=) c.1270C= (p.Pro424=) c.1249C= (p.Pro417=) c.1357C= (p.Pro453=) | |
| 8 | g.93923254C>G | CA371696175 | PDP1 | c.1195C>G (p.Pro399Ala) c.1270C>G (p.Pro424Ala) c.1249C>G (p.Pro417Ala) c.1357C>G (p.Pro453Ala) | |
| 8 | g.93923254C>T | CA371696173 | PDP1 | c.1195C>T (p.Pro399Ser) c.1270C>T (p.Pro424Ser) c.1249C>T (p.Pro417Ser) c.1357C>T (p.Pro453Ser) | dbSNP |
| 8 | g.93923255C>A | CA371696177 | PDP1 | c.1196C>A (p.Pro399Gln) c.1271C>A (p.Pro424Gln) c.1250C>A (p.Pro417Gln) c.1358C>A (p.Pro453Gln) | |
| 8 | g.93923255C>G | CA371696179 | PDP1 | c.1196C>G (p.Pro399Arg) c.1271C>G (p.Pro424Arg) c.1250C>G (p.Pro417Arg) c.1358C>G (p.Pro453Arg) | |
| 8 | g.93923255C>T | CA371696180 | PDP1 | c.1196C>T (p.Pro399Leu) c.1271C>T (p.Pro424Leu) c.1250C>T (p.Pro417Leu) c.1358C>T (p.Pro453Leu) | |
| 8 | g.93923256A>C | CA462118143 | PDP1 | c.1197A>C (p.Pro399=) c.1272A>C (p.Pro424=) c.1251A>C (p.Pro417=) c.1359A>C (p.Pro453=) | |
| 8 | g.93923256A>G | CA462118145 | PDP1 | c.1197A>G (p.Pro399=) c.1272A>G (p.Pro424=) c.1251A>G (p.Pro417=) c.1359A>G (p.Pro453=) | |
| 8 | g.93923256A>T | CA462118147 | PDP1 | c.1197A>T (p.Pro399=) c.1272A>T (p.Pro424=) c.1251A>T (p.Pro417=) c.1359A>T (p.Pro453=) | |
| 8 | g.93923257G>A | CA371696182 | PDP1 | c.1198G>A (p.Glu400Lys) c.1273G>A (p.Glu425Lys) c.1252G>A (p.Glu418Lys) c.1360G>A (p.Glu454Lys) | |
| 8 | g.93923257G>C | CA371696184 | PDP1 | c.1198G>C (p.Glu400Gln) c.1273G>C (p.Glu425Gln) c.1252G>C (p.Glu418Gln) c.1360G>C (p.Glu454Gln) | |
| 8 | g.93923257G>T | CA371696185 | PDP1 | c.1198G>T (p.Glu400Ter) c.1273G>T (p.Glu425Ter) c.1252G>T (p.Glu418Ter) c.1360G>T (p.Glu454Ter) | |
| 8 | g.93923258A>C | CA371696187 | PDP1 | c.1199A>C (p.Glu400Ala) c.1274A>C (p.Glu425Ala) c.1253A>C (p.Glu418Ala) c.1361A>C (p.Glu454Ala) | |
| 8 | g.93923258A>G | CA371696189 | PDP1 | c.1199A>G (p.Glu400Gly) c.1274A>G (p.Glu425Gly) c.1253A>G (p.Glu418Gly) c.1361A>G (p.Glu454Gly) | gnomAD v4 |
| 8 | g.93923258A>T | CA371696191 | PDP1 | c.1199A>T (p.Glu400Val) c.1274A>T (p.Glu425Val) c.1253A>T (p.Glu418Val) c.1361A>T (p.Glu454Val) | |
| 8 | g.93923259G>A | CA462118149 | PDP1 | c.1200G>A (p.Glu400=) c.1275G>A (p.Glu425=) c.1254G>A (p.Glu418=) c.1362G>A (p.Glu454=) | |
| 8 | g.93923259G>C | CA371696193 | PDP1 | c.1200G>C (p.Glu400Asp) c.1275G>C (p.Glu425Asp) c.1254G>C (p.Glu418Asp) c.1362G>C (p.Glu454Asp) | |
| 8 | g.93923259G>T | CA371696195 | PDP1 | c.1200G>T (p.Glu400Asp) c.1275G>T (p.Glu425Asp) c.1254G>T (p.Glu418Asp) c.1362G>T (p.Glu454Asp) | |
| 8 | g.93923260G>A | CA371696200 | PDP1 | c.1201G>A (p.Val401Ile) c.1276G>A (p.Val426Ile) c.1255G>A (p.Val419Ile) c.1363G>A (p.Val455Ile) | |
| 8 | g.93923260G>C | CA371696199 | PDP1 | c.1201G>C (p.Val401Leu) c.1276G>C (p.Val426Leu) c.1255G>C (p.Val419Leu) c.1363G>C (p.Val455Leu) | |
| 8 | g.93923260G>T | CA371696198 | PDP1 | c.1201G>T (p.Val401Leu) c.1276G>T (p.Val426Leu) c.1255G>T (p.Val419Leu) c.1363G>T (p.Val455Leu) | |
| 8 | g.93923261T>A | CA371696202 | PDP1 | c.1202T>A (p.Val401Glu) c.1277T>A (p.Val426Glu) c.1256T>A (p.Val419Glu) c.1364T>A (p.Val455Glu) | |
| 8 | g.93923261T>C | CA371696206 | PDP1 | c.1202T>C (p.Val401Ala) c.1277T>C (p.Val426Ala) c.1256T>C (p.Val419Ala) c.1364T>C (p.Val455Ala) | |
| 8 | g.93923261T>G | CA371696203 | PDP1 | c.1202T>G (p.Val401Gly) c.1277T>G (p.Val426Gly) c.1256T>G (p.Val419Gly) c.1364T>G (p.Val455Gly) | |
| 8 | g.93923262A>C | CA462118063 | PDP1 | c.1203A>C (p.Val401=) c.1278A>C (p.Val426=) c.1257A>C (p.Val419=) c.1365A>C (p.Val455=) | |
| 8 | g.93923262A>G | CA462118062 | PDP1 | c.1203A>G (p.Val401=) c.1278A>G (p.Val426=) c.1257A>G (p.Val419=) c.1365A>G (p.Val455=) | |
| 8 | g.93923262A>T | CA462118059 | PDP1 | c.1203A>T (p.Val401=) c.1278A>T (p.Val426=) c.1257A>T (p.Val419=) c.1365A>T (p.Val455=) | |
| 8 | g.93923263A= | CA1803280886 | PDP1 | c.1204A= (p.Thr402=) c.1279A= (p.Thr427=) c.1258A= (p.Thr420=) c.1366A= (p.Thr456=) | |
| 8 | g.93923263A>C | CA371696208 | PDP1 | c.1204A>C (p.Thr402Pro) c.1279A>C (p.Thr427Pro) c.1258A>C (p.Thr420Pro) c.1366A>C (p.Thr456Pro) | |
| 8 | g.93923263A>G | CA4808791 | PDP1 | c.1204A>G (p.Thr402Ala) c.1279A>G (p.Thr427Ala) c.1258A>G (p.Thr420Ala) c.1366A>G (p.Thr456Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923263A>T | CA371696211 | PDP1 | c.1204A>T (p.Thr402Ser) c.1279A>T (p.Thr427Ser) c.1258A>T (p.Thr420Ser) c.1366A>T (p.Thr456Ser) | |
| 8 | g.93923264C>A | CA371696212 | PDP1 | c.1205C>A (p.Thr402Asn) c.1280C>A (p.Thr427Asn) c.1259C>A (p.Thr420Asn) c.1367C>A (p.Thr456Asn) | |
| 8 | g.93923264C= | CA1803280887 | PDP1 | c.1205C= (p.Thr402=) c.1280C= (p.Thr427=) c.1259C= (p.Thr420=) c.1367C= (p.Thr456=) | |
| 8 | g.93923264C>G | CA371696213 | PDP1 | c.1205C>G (p.Thr402Ser) c.1280C>G (p.Thr427Ser) c.1259C>G (p.Thr420Ser) c.1367C>G (p.Thr456Ser) | |
| 8 | g.93923264C>T | CA371696215 | PDP1 | c.1205C>T (p.Thr402Ile) c.1280C>T (p.Thr427Ile) c.1259C>T (p.Thr420Ile) c.1367C>T (p.Thr456Ile) | dbSNP |
| 8 | g.93923265T>A | CA462118068 | PDP1 | c.1206T>A (p.Thr402=) c.1281T>A (p.Thr427=) c.1260T>A (p.Thr420=) c.1368T>A (p.Thr456=) | |
| 8 | g.93923265T>C | CA462118069 | PDP1 | c.1206T>C (p.Thr402=) c.1281T>C (p.Thr427=) c.1260T>C (p.Thr420=) c.1368T>C (p.Thr456=) | |
| 8 | g.93923265T>G | CA462118070 | PDP1 | c.1206T>G (p.Thr402=) c.1281T>G (p.Thr427=) c.1260T>G (p.Thr420=) c.1368T>G (p.Thr456=) | |
| 8 | g.93923266T>A | CA371696218 | PDP1 | c.1207T>A (p.Tyr403Asn) c.1282T>A (p.Tyr428Asn) c.1261T>A (p.Tyr421Asn) c.1369T>A (p.Tyr457Asn) | |
| 8 | g.93923266T>C | CA371696219 | PDP1 | c.1207T>C (p.Tyr403His) c.1282T>C (p.Tyr428His) c.1261T>C (p.Tyr421His) c.1369T>C (p.Tyr457His) | |
| 8 | g.93923266T>G | CA371696221 | PDP1 | c.1207T>G (p.Tyr403Asp) c.1282T>G (p.Tyr428Asp) c.1261T>G (p.Tyr421Asp) c.1369T>G (p.Tyr457Asp) | |
| 8 | g.93923267A>C | CA371696224 | PDP1 | c.1208A>C (p.Tyr403Ser) c.1283A>C (p.Tyr428Ser) c.1262A>C (p.Tyr421Ser) c.1370A>C (p.Tyr457Ser) | |
| 8 | g.93923267A>G | CA371696226 | PDP1 | c.1208A>G (p.Tyr403Cys) c.1283A>G (p.Tyr428Cys) c.1262A>G (p.Tyr421Cys) c.1370A>G (p.Tyr457Cys) | |
| 8 | g.93923267A>T | CA371696228 | PDP1 | c.1208A>T (p.Tyr403Phe) c.1283A>T (p.Tyr428Phe) c.1262A>T (p.Tyr421Phe) c.1370A>T (p.Tyr457Phe) |