Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
8 | g.93923268C>A | CA371696233 | PDP1 | c.1209C>A (p.Tyr403Ter) c.1284C>A (p.Tyr428Ter) c.1263C>A (p.Tyr421Ter) c.1371C>A (p.Tyr457Ter) | |
8 | g.93923268C= | CA1803280888 | PDP1 | c.1209C= (p.Tyr403=) c.1284C= (p.Tyr428=) c.1263C= (p.Tyr421=) c.1371C= (p.Tyr457=) | |
8 | g.93923268C>G | CA371696231 | PDP1 | c.1209C>G (p.Tyr403Ter) c.1284C>G (p.Tyr428Ter) c.1263C>G (p.Tyr421Ter) c.1371C>G (p.Tyr457Ter) | |
8 | g.93923268C>T | CA4808792 | PDP1 | c.1209C>T (p.Tyr403=) c.1284C>T (p.Tyr428=) c.1263C>T (p.Tyr421=) c.1371C>T (p.Tyr457=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923269C>A | CA371696234 | PDP1 | c.1210C>A (p.His404Asn) c.1285C>A (p.His429Asn) c.1264C>A (p.His422Asn) c.1372C>A (p.His458Asn) | |
8 | g.93923269C>G | CA371696236 | PDP1 | c.1210C>G (p.His404Asp) c.1285C>G (p.His429Asp) c.1264C>G (p.His422Asp) c.1372C>G (p.His458Asp) | |
8 | g.93923269C>T | CA371696238 | PDP1 | c.1210C>T (p.His404Tyr) c.1285C>T (p.His429Tyr) c.1264C>T (p.His422Tyr) c.1372C>T (p.His458Tyr) | |
8 | g.93923270A>C | CA371696240 | PDP1 | c.1211A>C (p.His404Pro) c.1286A>C (p.His429Pro) c.1265A>C (p.His422Pro) c.1373A>C (p.His458Pro) | |
8 | g.93923270A>G | CA371696241 | PDP1 | c.1211A>G (p.His404Arg) c.1286A>G (p.His429Arg) c.1265A>G (p.His422Arg) c.1373A>G (p.His458Arg) | |
8 | g.93923270A>T | CA371696243 | PDP1 | c.1211A>T (p.His404Leu) c.1286A>T (p.His429Leu) c.1265A>T (p.His422Leu) c.1373A>T (p.His458Leu) | |
8 | g.93923271C>A | CA371696245 | PDP1 | c.1212C>A (p.His404Gln) c.1287C>A (p.His429Gln) c.1266C>A (p.His422Gln) c.1374C>A (p.His458Gln) | |
8 | g.93923271C= | CA1803280889 | PDP1 | c.1212C= (p.His404=) c.1287C= (p.His429=) c.1266C= (p.His422=) c.1374C= (p.His458=) | |
8 | g.93923271C>G | CA371696247 | PDP1 | c.1212C>G (p.His404Gln) c.1287C>G (p.His429Gln) c.1266C>G (p.His422Gln) c.1374C>G (p.His458Gln) | |
8 | g.93923271C>T | CA462118075 | PDP1 | c.1212C>T (p.His404=) c.1287C>T (p.His429=) c.1266C>T (p.His422=) c.1374C>T (p.His458=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.93923272C>A | CA462118076 | PDP1 | c.1213C>A (p.Arg405=) c.1288C>A (p.Arg430=) c.1267C>A (p.Arg423=) c.1375C>A (p.Arg459=) | |
8 | g.93923272C= | CA1803280890 | PDP1 | c.1213C= (p.Arg405=) c.1288C= (p.Arg430=) c.1267C= (p.Arg423=) c.1375C= (p.Arg459=) | |
8 | g.93923272C>G | CA371696248 | PDP1 | c.1213C>G (p.Arg405Gly) c.1288C>G (p.Arg430Gly) c.1267C>G (p.Arg423Gly) c.1375C>G (p.Arg459Gly) | |
8 | g.93923272C>T | CA4808793 | PDP1 | c.1213C>T (p.Arg405Ter) c.1288C>T (p.Arg430Ter) c.1267C>T (p.Arg423Ter) c.1375C>T (p.Arg459Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923273G>A | CA4808794 | PDP1 | c.1214G>A (p.Arg405Gln) c.1289G>A (p.Arg430Gln) c.1268G>A (p.Arg423Gln) c.1376G>A (p.Arg459Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923273G>C | CA371696253 | PDP1 | c.1214G>C (p.Arg405Pro) c.1289G>C (p.Arg430Pro) c.1268G>C (p.Arg423Pro) c.1376G>C (p.Arg459Pro) | |
8 | g.93923273G= | CA1803280891 | PDP1 | c.1214G= (p.Arg405=) c.1289G= (p.Arg430=) c.1268G= (p.Arg423=) c.1376G= (p.Arg459=) | |
8 | g.93923273G>T | CA371696254 | PDP1 | c.1214G>T (p.Arg405Leu) c.1289G>T (p.Arg430Leu) c.1268G>T (p.Arg423Leu) c.1376G>T (p.Arg459Leu) | |
8 | g.93923274A>C | CA462118079 | PDP1 | c.1215A>C (p.Arg405=) c.1290A>C (p.Arg430=) c.1269A>C (p.Arg423=) c.1377A>C (p.Arg459=) | |
8 | g.93923274A>G | CA462118082 | PDP1 | c.1215A>G (p.Arg405=) c.1290A>G (p.Arg430=) c.1269A>G (p.Arg423=) c.1377A>G (p.Arg459=) | |
8 | g.93923274A>T | CA462118083 | PDP1 | c.1215A>T (p.Arg405=) c.1290A>T (p.Arg430=) c.1269A>T (p.Arg423=) c.1377A>T (p.Arg459=) | gnomAD v4 |
8 | g.93923275T>A | CA371696256 | PDP1 | c.1216T>A (p.Leu406Ile) c.1291T>A (p.Leu431Ile) c.1270T>A (p.Leu424Ile) c.1378T>A (p.Leu460Ile) | COSMIC COSMIC |
8 | g.93923275T>C | CA462118085 | PDP1 | c.1216T>C (p.Leu406=) c.1291T>C (p.Leu431=) c.1270T>C (p.Leu424=) c.1378T>C (p.Leu460=) | |
8 | g.93923275T>G | CA371696257 | PDP1 | c.1216T>G (p.Leu406Val) c.1291T>G (p.Leu431Val) c.1270T>G (p.Leu424Val) c.1378T>G (p.Leu460Val) | |
8 | g.93923276T>A | CA371696259 | PDP1 | c.1217T>A (p.Leu406Ter) c.1292T>A (p.Leu431Ter) c.1271T>A (p.Leu424Ter) c.1379T>A (p.Leu460Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923276T>C | CA371696261 | PDP1 | c.1217T>C (p.Leu406Ser) c.1292T>C (p.Leu431Ser) c.1271T>C (p.Leu424Ser) c.1379T>C (p.Leu460Ser) | |
8 | g.93923276T>G | CA371696263 | PDP1 | c.1217T>G (p.Leu406Ter) c.1292T>G (p.Leu431Ter) c.1271T>G (p.Leu424Ter) c.1379T>G (p.Leu460Ter) | gnomAD v4 |
8 | g.93923276T= | CA1803280892 | PDP1 | c.1217T= (p.Leu406=) c.1292T= (p.Leu431=) c.1271T= (p.Leu424=) c.1379T= (p.Leu460=) | |
8 | g.93923277A>C | CA371696265 | PDP1 | c.1218A>C (p.Leu406Phe) c.1293A>C (p.Leu431Phe) c.1272A>C (p.Leu424Phe) c.1380A>C (p.Leu460Phe) | |
8 | g.93923277A>G | CA462118090 | PDP1 | c.1218A>G (p.Leu406=) c.1293A>G (p.Leu431=) c.1272A>G (p.Leu424=) c.1380A>G (p.Leu460=) | |
8 | g.93923277A>T | CA371696267 | PDP1 | c.1218A>T (p.Leu406Phe) c.1293A>T (p.Leu431Phe) c.1272A>T (p.Leu424Phe) c.1380A>T (p.Leu460Phe) | |
8 | g.93923278A= | CA1803280893 | PDP1 | c.1219A= (p.Arg407=) c.1294A= (p.Arg432=) c.1273A= (p.Arg425=) c.1381A= (p.Arg461=) | |
8 | g.93923278A>C | CA462118092 | PDP1 | c.1219A>C (p.Arg407=) c.1294A>C (p.Arg432=) c.1273A>C (p.Arg425=) c.1381A>C (p.Arg461=) | dbSNP |
8 | g.93923278A>G | CA371696269 | PDP1 | c.1219A>G (p.Arg407Gly) c.1294A>G (p.Arg432Gly) c.1273A>G (p.Arg425Gly) c.1381A>G (p.Arg461Gly) | |
8 | g.93923278A>T | CA371696271 | PDP1 | c.1219A>T (p.Arg407Trp) c.1294A>T (p.Arg432Trp) c.1273A>T (p.Arg425Trp) c.1381A>T (p.Arg461Trp) | |
8 | g.93923279G>A | CA371696276 | PDP1 | c.1220G>A (p.Arg407Lys) c.1295G>A (p.Arg432Lys) c.1274G>A (p.Arg425Lys) c.1382G>A (p.Arg461Lys) | |
8 | g.93923279G>C | CA371696273 | PDP1 | c.1220G>C (p.Arg407Thr) c.1295G>C (p.Arg432Thr) c.1274G>C (p.Arg425Thr) c.1382G>C (p.Arg461Thr) | |
8 | g.93923279G>T | CA371696274 | PDP1 | c.1220G>T (p.Arg407Met) c.1295G>T (p.Arg432Met) c.1274G>T (p.Arg425Met) c.1382G>T (p.Arg461Met) | |
8 | g.93923280G>A | CA462118099 | PDP1 | c.1221G>A (p.Arg407=) c.1296G>A (p.Arg432=) c.1275G>A (p.Arg425=) c.1383G>A (p.Arg461=) | |
8 | g.93923280G>C | CA371696278 | PDP1 | c.1221G>C (p.Arg407Ser) c.1296G>C (p.Arg432Ser) c.1275G>C (p.Arg425Ser) c.1383G>C (p.Arg461Ser) | |
8 | g.93923280G>T | CA371696279 | PDP1 | c.1221G>T (p.Arg407Ser) c.1296G>T (p.Arg432Ser) c.1275G>T (p.Arg425Ser) c.1383G>T (p.Arg461Ser) | |
8 | g.93923281C>A | CA371696282 | PDP1 | c.1222C>A (p.Pro408Thr) c.1297C>A (p.Pro433Thr) c.1276C>A (p.Pro426Thr) c.1384C>A (p.Pro462Thr) | |
8 | g.93923281C>G | CA371696283 | PDP1 | c.1222C>G (p.Pro408Ala) c.1297C>G (p.Pro433Ala) c.1276C>G (p.Pro426Ala) c.1384C>G (p.Pro462Ala) | |
8 | g.93923281C>T | CA371696285 | PDP1 | c.1222C>T (p.Pro408Ser) c.1297C>T (p.Pro433Ser) c.1276C>T (p.Pro426Ser) c.1384C>T (p.Pro462Ser) | |
8 | g.93923282C>A | CA371696287 | PDP1 | c.1223C>A (p.Pro408Gln) c.1298C>A (p.Pro433Gln) c.1277C>A (p.Pro426Gln) c.1385C>A (p.Pro462Gln) | |
8 | g.93923282C>G | CA371696290 | PDP1 | c.1223C>G (p.Pro408Arg) c.1298C>G (p.Pro433Arg) c.1277C>G (p.Pro426Arg) c.1385C>G (p.Pro462Arg) | |
8 | g.93923282C>T | CA371696289 | PDP1 | c.1223C>T (p.Pro408Leu) c.1298C>T (p.Pro433Leu) c.1277C>T (p.Pro426Leu) c.1385C>T (p.Pro462Leu) | COSMIC COSMIC |
8 | g.93923283A>C | CA462118102 | PDP1 | c.1224A>C (p.Pro408=) c.1299A>C (p.Pro433=) c.1278A>C (p.Pro426=) c.1386A>C (p.Pro462=) | |
8 | g.93923283A>G | CA462118103 | PDP1 | c.1224A>G (p.Pro408=) c.1299A>G (p.Pro433=) c.1278A>G (p.Pro426=) c.1386A>G (p.Pro462=) | |
8 | g.93923283A>T | CA462118104 | PDP1 | c.1224A>T (p.Pro408=) c.1299A>T (p.Pro433=) c.1278A>T (p.Pro426=) c.1386A>T (p.Pro462=) | |
8 | g.93923284C>A | CA371696293 | PDP1 | c.1225C>A (p.Gln409Lys) c.1300C>A (p.Gln434Lys) c.1279C>A (p.Gln427Lys) c.1387C>A (p.Gln463Lys) | gnomAD v4 |
8 | g.93923284C>G | CA371696295 | PDP1 | c.1225C>G (p.Gln409Glu) c.1300C>G (p.Gln434Glu) c.1279C>G (p.Gln427Glu) c.1387C>G (p.Gln463Glu) | |
8 | g.93923284C>T | CA371696297 | PDP1 | c.1225C>T (p.Gln409Ter) c.1300C>T (p.Gln434Ter) c.1279C>T (p.Gln427Ter) c.1387C>T (p.Gln463Ter) | |
8 | g.93923285A>C | CA371696299 | PDP1 | c.1226A>C (p.Gln409Pro) c.1301A>C (p.Gln434Pro) c.1280A>C (p.Gln427Pro) c.1388A>C (p.Gln463Pro) | |
8 | g.93923285A>G | CA371696301 | PDP1 | c.1226A>G (p.Gln409Arg) c.1301A>G (p.Gln434Arg) c.1280A>G (p.Gln427Arg) c.1388A>G (p.Gln463Arg) | |
8 | g.93923285A>T | CA371696302 | PDP1 | c.1226A>T (p.Gln409Leu) c.1301A>T (p.Gln434Leu) c.1280A>T (p.Gln427Leu) c.1388A>T (p.Gln463Leu) | |
8 | g.93923286G>A | CA462118106 | PDP1 | c.1227G>A (p.Gln409=) c.1302G>A (p.Gln434=) c.1281G>A (p.Gln427=) c.1389G>A (p.Gln463=) | |
8 | g.93923286G>C | CA371696303 | PDP1 | c.1227G>C (p.Gln409His) c.1302G>C (p.Gln434His) c.1281G>C (p.Gln427His) c.1389G>C (p.Gln463His) | |
8 | g.93923286G>T | CA371696304 | PDP1 | c.1227G>T (p.Gln409His) c.1302G>T (p.Gln434His) c.1281G>T (p.Gln427His) c.1389G>T (p.Gln463His) | |
8 | g.93923287G>A | CA371696305 | PDP1 | c.1228G>A (p.Asp410Asn) c.1303G>A (p.Asp435Asn) c.1282G>A (p.Asp428Asn) c.1390G>A (p.Asp464Asn) | |
8 | g.93923287G>C | CA371696306 | PDP1 | c.1228G>C (p.Asp410His) c.1303G>C (p.Asp435His) c.1282G>C (p.Asp428His) c.1390G>C (p.Asp464His) | |
8 | g.93923287G= | CA1803280894 | PDP1 | c.1228G= (p.Asp410=) c.1303G= (p.Asp435=) c.1282G= (p.Asp428=) c.1390G= (p.Asp464=) | |
8 | g.93923287G>T | CA4808795 | PDP1 | c.1228G>T (p.Asp410Tyr) c.1303G>T (p.Asp435Tyr) c.1282G>T (p.Asp428Tyr) c.1390G>T (p.Asp464Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923288A= | CA1803280895 | PDP1 | c.1229A= (p.Asp410=) c.1304A= (p.Asp435=) c.1283A= (p.Asp428=) c.1391A= (p.Asp464=) | |
8 | g.93923288A>C | CA371696307 | PDP1 | c.1229A>C (p.Asp410Ala) c.1304A>C (p.Asp435Ala) c.1283A>C (p.Asp428Ala) c.1391A>C (p.Asp464Ala) | gnomAD v4 |
8 | g.93923288A>G | CA4808796 | PDP1 | c.1229A>G (p.Asp410Gly) c.1304A>G (p.Asp435Gly) c.1283A>G (p.Asp428Gly) c.1391A>G (p.Asp464Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923288A>T | CA371696308 | PDP1 | c.1229A>T (p.Asp410Val) c.1304A>T (p.Asp435Val) c.1283A>T (p.Asp428Val) c.1391A>T (p.Asp464Val) | gnomAD v4 |
8 | g.93923289T>A | CA371696309 | PDP1 | c.1230T>A (p.Asp410Glu) c.1305T>A (p.Asp435Glu) c.1284T>A (p.Asp428Glu) c.1392T>A (p.Asp464Glu) | |
8 | g.93923289T>C | CA462118109 | PDP1 | c.1230T>C (p.Asp410=) c.1305T>C (p.Asp435=) c.1284T>C (p.Asp428=) c.1392T>C (p.Asp464=) | |
8 | g.93923289T>G | CA371696310 | PDP1 | c.1230T>G (p.Asp410Glu) c.1305T>G (p.Asp435Glu) c.1284T>G (p.Asp428Glu) c.1392T>G (p.Asp464Glu) | |
8 | g.93923290A>C | CA371696311 | PDP1 | c.1231A>C (p.Lys411Gln) c.1306A>C (p.Lys436Gln) c.1285A>C (p.Lys429Gln) c.1393A>C (p.Lys465Gln) | |
8 | g.93923290A>G | CA371696312 | PDP1 | c.1231A>G (p.Lys411Glu) c.1306A>G (p.Lys436Glu) c.1285A>G (p.Lys429Glu) c.1393A>G (p.Lys465Glu) | |
8 | g.93923290A>T | CA371696313 | PDP1 | c.1231A>T (p.Lys411Ter) c.1306A>T (p.Lys436Ter) c.1285A>T (p.Lys429Ter) c.1393A>T (p.Lys465Ter) | |
8 | g.93923291A= | CA1803280896 | PDP1 | c.1232A= (p.Lys411=) c.1307A= (p.Lys436=) c.1286A= (p.Lys429=) c.1394A= (p.Lys465=) | |
8 | g.93923291A>C | CA371696314 | PDP1 | c.1232A>C (p.Lys411Thr) c.1307A>C (p.Lys436Thr) c.1286A>C (p.Lys429Thr) c.1394A>C (p.Lys465Thr) | |
8 | g.93923291A>G | CA371696315 | PDP1 | c.1232A>G (p.Lys411Arg) c.1307A>G (p.Lys436Arg) c.1286A>G (p.Lys429Arg) c.1394A>G (p.Lys465Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.93923291A>T | CA371696316 | PDP1 | c.1232A>T (p.Lys411Met) c.1307A>T (p.Lys436Met) c.1286A>T (p.Lys429Met) c.1394A>T (p.Lys465Met) | |
8 | g.93923292G>A | CA181376095 | PDP1 | c.1233G>A (p.Lys411=) c.1308G>A (p.Lys436=) c.1287G>A (p.Lys429=) c.1395G>A (p.Lys465=) | ClinVar dbSNP gnomAD v4 |
8 | g.93923292G>C | CA371696317 | PDP1 | c.1233G>C (p.Lys411Asn) c.1308G>C (p.Lys436Asn) c.1287G>C (p.Lys429Asn) c.1395G>C (p.Lys465Asn) | |
8 | g.93923292G= | CA1803280897 | PDP1 | c.1233G= (p.Lys411=) c.1308G= (p.Lys436=) c.1287G= (p.Lys429=) c.1395G= (p.Lys465=) | |
8 | g.93923292G>T | CA371696318 | PDP1 | c.1233G>T (p.Lys411Asn) c.1308G>T (p.Lys436Asn) c.1287G>T (p.Lys429Asn) c.1395G>T (p.Lys465Asn) | |
8 | g.93923293T>A | CA371696319 | PDP1 | c.1234T>A (p.Phe412Ile) c.1309T>A (p.Phe437Ile) c.1288T>A (p.Phe430Ile) c.1396T>A (p.Phe466Ile) | |
8 | g.93923293T>C | CA371696320 | PDP1 | c.1234T>C (p.Phe412Leu) c.1309T>C (p.Phe437Leu) c.1288T>C (p.Phe430Leu) c.1396T>C (p.Phe466Leu) | |
8 | g.93923293T>G | CA371696321 | PDP1 | c.1234T>G (p.Phe412Val) c.1309T>G (p.Phe437Val) c.1288T>G (p.Phe430Val) c.1396T>G (p.Phe466Val) | |
8 | g.93923294T>A | CA371696324 | PDP1 | c.1235T>A (p.Phe412Tyr) c.1310T>A (p.Phe437Tyr) c.1289T>A (p.Phe430Tyr) c.1397T>A (p.Phe466Tyr) | |
8 | g.93923294T>C | CA371696323 | PDP1 | c.1235T>C (p.Phe412Ser) c.1310T>C (p.Phe437Ser) c.1289T>C (p.Phe430Ser) c.1397T>C (p.Phe466Ser) | |
8 | g.93923294T>G | CA371696322 | PDP1 | c.1235T>G (p.Phe412Cys) c.1310T>G (p.Phe437Cys) c.1289T>G (p.Phe430Cys) c.1397T>G (p.Phe466Cys) | |
8 | g.93923295T>A | CA371696325 | PDP1 | c.1236T>A (p.Phe412Leu) c.1311T>A (p.Phe437Leu) c.1290T>A (p.Phe430Leu) c.1398T>A (p.Phe466Leu) | |
8 | g.93923295T>C | CA462118115 | PDP1 | c.1236T>C (p.Phe412=) c.1311T>C (p.Phe437=) c.1290T>C (p.Phe430=) c.1398T>C (p.Phe466=) | |
8 | g.93923295T>G | CA371696326 | PDP1 | c.1236T>G (p.Phe412Leu) c.1311T>G (p.Phe437Leu) c.1290T>G (p.Phe430Leu) c.1398T>G (p.Phe466Leu) | |
8 | g.93923296C>A | CA371696327 | PDP1 | c.1237C>A (p.Leu413Met) c.1312C>A (p.Leu438Met) c.1291C>A (p.Leu431Met) c.1399C>A (p.Leu467Met) | |
8 | g.93923296C>G | CA371696328 | PDP1 | c.1237C>G (p.Leu413Val) c.1312C>G (p.Leu438Val) c.1291C>G (p.Leu431Val) c.1399C>G (p.Leu467Val) | |
8 | g.93923296C>T | CA462118116 | PDP1 | c.1237C>T (p.Leu413=) c.1312C>T (p.Leu438=) c.1291C>T (p.Leu431=) c.1399C>T (p.Leu467=) | |
8 | g.93923297T>A | CA371696329 | PDP1 | c.1238T>A (p.Leu413Gln) c.1313T>A (p.Leu438Gln) c.1292T>A (p.Leu431Gln) c.1400T>A (p.Leu467Gln) | |
8 | g.93923297T>C | CA371696330 | PDP1 | c.1238T>C (p.Leu413Pro) c.1313T>C (p.Leu438Pro) c.1292T>C (p.Leu431Pro) c.1400T>C (p.Leu467Pro) | gnomAD v4 |
8 | g.93923297T>G | CA371696331 | PDP1 | c.1238T>G (p.Leu413Arg) c.1313T>G (p.Leu438Arg) c.1292T>G (p.Leu431Arg) c.1400T>G (p.Leu467Arg) | |
8 | g.93923298G>A | CA462118118 | PDP1 | c.1239G>A (p.Leu413=) c.1314G>A (p.Leu438=) c.1293G>A (p.Leu431=) c.1401G>A (p.Leu467=) | |
8 | g.93923298G>C | CA462118120 | PDP1 | c.1239G>C (p.Leu413=) c.1314G>C (p.Leu438=) c.1293G>C (p.Leu431=) c.1401G>C (p.Leu467=) | |
8 | g.93923298G>T | CA462118122 | PDP1 | c.1239G>T (p.Leu413=) c.1314G>T (p.Leu438=) c.1293G>T (p.Leu431=) c.1401G>T (p.Leu467=) | |
8 | g.93923299G>A | CA371696332 | PDP1 | c.1240G>A (p.Val414Met) c.1315G>A (p.Val439Met) c.1294G>A (p.Val432Met) c.1402G>A (p.Val468Met) | |
8 | g.93923299G>C | CA371696333 | PDP1 | c.1240G>C (p.Val414Leu) c.1315G>C (p.Val439Leu) c.1294G>C (p.Val432Leu) c.1402G>C (p.Val468Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923299G= | CA1803280898 | PDP1 | c.1240G= (p.Val414=) c.1315G= (p.Val439=) c.1294G= (p.Val432=) c.1402G= (p.Val468=) | |
8 | g.93923299G>T | CA371696334 | PDP1 | c.1240G>T (p.Val414Leu) c.1315G>T (p.Val439Leu) c.1294G>T (p.Val432Leu) c.1402G>T (p.Val468Leu) | |
8 | g.93923300T>A | CA371696335 | PDP1 | c.1241T>A (p.Val414Glu) c.1316T>A (p.Val439Glu) c.1295T>A (p.Val432Glu) c.1403T>A (p.Val468Glu) | |
8 | g.93923300T>C | CA371696336 | PDP1 | c.1241T>C (p.Val414Ala) c.1316T>C (p.Val439Ala) c.1295T>C (p.Val432Ala) c.1403T>C (p.Val468Ala) | |
8 | g.93923300T>G | CA371696337 | PDP1 | c.1241T>G (p.Val414Gly) c.1316T>G (p.Val439Gly) c.1295T>G (p.Val432Gly) c.1403T>G (p.Val468Gly) | |
8 | g.93923301G>A | CA4808797 | PDP1 | c.1242G>A (p.Val414=) c.1317G>A (p.Val439=) c.1296G>A (p.Val432=) c.1404G>A (p.Val468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.93923301G>C | CA462118123 | PDP1 | c.1242G>C (p.Val414=) c.1317G>C (p.Val439=) c.1296G>C (p.Val432=) c.1404G>C (p.Val468=) | |
8 | g.93923301G= | CA1803280899 | PDP1 | c.1242G= (p.Val414=) c.1317G= (p.Val439=) c.1296G= (p.Val432=) c.1404G= (p.Val468=) | |
8 | g.93923301G>T | CA462118124 | PDP1 | c.1242G>T (p.Val414=) c.1317G>T (p.Val439=) c.1296G>T (p.Val432=) c.1404G>T (p.Val468=) | |
8 | g.93923302T>A | CA371696339 | PDP1 | c.1243T>A (p.Leu415Met) c.1318T>A (p.Leu440Met) c.1297T>A (p.Leu433Met) c.1405T>A (p.Leu469Met) | |
8 | g.93923302T>C | CA462118125 | PDP1 | c.1243T>C (p.Leu415=) c.1318T>C (p.Leu440=) c.1297T>C (p.Leu433=) c.1405T>C (p.Leu469=) | |
8 | g.93923302T>G | CA371696338 | PDP1 | c.1243T>G (p.Leu415Val) c.1318T>G (p.Leu440Val) c.1297T>G (p.Leu433Val) c.1405T>G (p.Leu469Val) | |
8 | g.93923303T>A | CA371696340 | PDP1 | c.1244T>A (p.Leu415Ter) c.1319T>A (p.Leu440Ter) c.1298T>A (p.Leu433Ter) c.1406T>A (p.Leu469Ter) | |
8 | g.93923303T>C | CA371696341 | PDP1 | c.1244T>C (p.Leu415Ser) c.1319T>C (p.Leu440Ser) c.1298T>C (p.Leu433Ser) c.1406T>C (p.Leu469Ser) | |
8 | g.93923303T>G | CA371696342 | PDP1 | c.1244T>G (p.Leu415Trp) c.1319T>G (p.Leu440Trp) c.1298T>G (p.Leu433Trp) c.1406T>G (p.Leu469Trp) | |
8 | g.93923304G>A | CA462118127 | PDP1 | c.1245G>A (p.Leu415=) c.1320G>A (p.Leu440=) c.1299G>A (p.Leu433=) c.1407G>A (p.Leu469=) | |
8 | g.93923304G>C | CA371696343 | PDP1 | c.1245G>C (p.Leu415Phe) c.1320G>C (p.Leu440Phe) c.1299G>C (p.Leu433Phe) c.1407G>C (p.Leu469Phe) | |
8 | g.93923304G>T | CA371696344 | PDP1 | c.1245G>T (p.Leu415Phe) c.1320G>T (p.Leu440Phe) c.1299G>T (p.Leu433Phe) c.1407G>T (p.Leu469Phe) | |
8 | g.93923305G>A | CA371696345 | PDP1 | c.1246G>A (p.Ala416Thr) c.1321G>A (p.Ala441Thr) c.1300G>A (p.Ala434Thr) c.1408G>A (p.Ala470Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.93923305G>C | CA371696346 | PDP1 | c.1246G>C (p.Ala416Pro) c.1321G>C (p.Ala441Pro) c.1300G>C (p.Ala434Pro) c.1408G>C (p.Ala470Pro) | |
8 | g.93923305G= | CA1803280900 | PDP1 | c.1246G= (p.Ala416=) c.1321G= (p.Ala441=) c.1300G= (p.Ala434=) c.1408G= (p.Ala470=) | |
8 | g.93923305G>T | CA371696347 | PDP1 | c.1246G>T (p.Ala416Ser) c.1321G>T (p.Ala441Ser) c.1300G>T (p.Ala434Ser) c.1408G>T (p.Ala470Ser) | |
8 | g.93923306C>A | CA371696348 | PDP1 | c.1247C>A (p.Ala416Asp) c.1322C>A (p.Ala441Asp) c.1301C>A (p.Ala434Asp) c.1409C>A (p.Ala470Asp) | |
8 | g.93923306C>G | CA371696349 | PDP1 | c.1247C>G (p.Ala416Gly) c.1322C>G (p.Ala441Gly) c.1301C>G (p.Ala434Gly) c.1409C>G (p.Ala470Gly) | |
8 | g.93923306C>T | CA371696350 | PDP1 | c.1247C>T (p.Ala416Val) c.1322C>T (p.Ala441Val) c.1301C>T (p.Ala434Val) c.1409C>T (p.Ala470Val) | |
8 | g.93923307T>A | CA462118130 | PDP1 | c.1248T>A (p.Ala416=) c.1323T>A (p.Ala441=) c.1302T>A (p.Ala434=) c.1410T>A (p.Ala470=) | |
8 | g.93923307T>C | CA462118132 | PDP1 | c.1248T>C (p.Ala416=) c.1323T>C (p.Ala441=) c.1302T>C (p.Ala434=) c.1410T>C (p.Ala470=) | |
8 | g.93923307T>G | CA462118134 | PDP1 | c.1248T>G (p.Ala416=) c.1323T>G (p.Ala441=) c.1302T>G (p.Ala434=) c.1410T>G (p.Ala470=) | |
8 | g.93923308A>C | CA371696353 | PDP1 | c.1249A>C (p.Thr417Pro) c.1324A>C (p.Thr442Pro) c.1303A>C (p.Thr435Pro) c.1411A>C (p.Thr471Pro) | gnomAD v4 |
8 | g.93923308A>G | CA371696352 | PDP1 | c.1249A>G (p.Thr417Ala) c.1324A>G (p.Thr442Ala) c.1303A>G (p.Thr435Ala) c.1411A>G (p.Thr471Ala) | gnomAD v4 |
8 | g.93923308A>T | CA371696351 | PDP1 | c.1249A>T (p.Thr417Ser) c.1324A>T (p.Thr442Ser) c.1303A>T (p.Thr435Ser) c.1411A>T (p.Thr471Ser) | |
8 | g.93923309C>A | CA371696354 | PDP1 | c.1250C>A (p.Thr417Asn) c.1325C>A (p.Thr442Asn) c.1304C>A (p.Thr435Asn) c.1412C>A (p.Thr471Asn) | gnomAD v4 |
8 | g.93923309C>G | CA371696355 | PDP1 | c.1250C>G (p.Thr417Ser) c.1325C>G (p.Thr442Ser) c.1304C>G (p.Thr435Ser) c.1412C>G (p.Thr471Ser) | |
8 | g.93923309C>T | CA371696356 | PDP1 | c.1250C>T (p.Thr417Ile) c.1325C>T (p.Thr442Ile) c.1304C>T (p.Thr435Ile) c.1412C>T (p.Thr471Ile) | |
8 | g.93923310T>A | CA462118140 | PDP1 | c.1251T>A (p.Thr417=) c.1326T>A (p.Thr442=) c.1305T>A (p.Thr435=) c.1413T>A (p.Thr471=) | |
8 | g.93923310T>C | CA4808798 | PDP1 | c.1251T>C (p.Thr417=) c.1326T>C (p.Thr442=) c.1305T>C (p.Thr435=) c.1413T>C (p.Thr471=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923310T>G | CA462118136 | PDP1 | c.1251T>G (p.Thr417=) c.1326T>G (p.Thr442=) c.1305T>G (p.Thr435=) c.1413T>G (p.Thr471=) | |
8 | g.93923310T= | CA1803280901 | PDP1 | c.1251T= (p.Thr417=) c.1326T= (p.Thr442=) c.1305T= (p.Thr435=) c.1413T= (p.Thr471=) | |
8 | g.93923311G>A | CA371696357 | PDP1 | c.1252G>A (p.Asp418Asn) c.1327G>A (p.Asp443Asn) c.1306G>A (p.Asp436Asn) c.1414G>A (p.Asp472Asn) | |
8 | g.93923311G>C | CA371696358 | PDP1 | c.1252G>C (p.Asp418His) c.1327G>C (p.Asp443His) c.1306G>C (p.Asp436His) c.1414G>C (p.Asp472His) | |
8 | g.93923311G>T | CA371696359 | PDP1 | c.1252G>T (p.Asp418Tyr) c.1327G>T (p.Asp443Tyr) c.1306G>T (p.Asp436Tyr) c.1414G>T (p.Asp472Tyr) | |
8 | g.93923312A>C | CA371696360 | PDP1 | c.1253A>C (p.Asp418Ala) c.1328A>C (p.Asp443Ala) c.1307A>C (p.Asp436Ala) c.1415A>C (p.Asp472Ala) | |
8 | g.93923312A>G | CA371696361 | PDP1 | c.1253A>G (p.Asp418Gly) c.1328A>G (p.Asp443Gly) c.1307A>G (p.Asp436Gly) c.1415A>G (p.Asp472Gly) | |
8 | g.93923312A>T | CA371696362 | PDP1 | c.1253A>T (p.Asp418Val) c.1328A>T (p.Asp443Val) c.1307A>T (p.Asp436Val) c.1415A>T (p.Asp472Val) | |
8 | g.93923313T>A | CA371696363 | PDP1 | c.1254T>A (p.Asp418Glu) c.1329T>A (p.Asp443Glu) c.1308T>A (p.Asp436Glu) c.1416T>A (p.Asp472Glu) | |
8 | g.93923313T>C | CA462118142 | PDP1 | c.1254T>C (p.Asp418=) c.1329T>C (p.Asp443=) c.1308T>C (p.Asp436=) c.1416T>C (p.Asp472=) | |
8 | g.93923313T>G | CA371696364 | PDP1 | c.1254T>G (p.Asp418Glu) c.1329T>G (p.Asp443Glu) c.1308T>G (p.Asp436Glu) c.1416T>G (p.Asp472Glu) | |
8 | g.93923314G>A | CA371696365 | PDP1 | c.1255G>A (p.Gly419Arg) c.1330G>A (p.Gly444Arg) c.1309G>A (p.Gly437Arg) c.1417G>A (p.Gly473Arg) | dbSNP |
8 | g.93923314G>C | CA371696367 | PDP1 | c.1255G>C (p.Gly419Arg) c.1330G>C (p.Gly444Arg) c.1309G>C (p.Gly437Arg) c.1417G>C (p.Gly473Arg) | |
8 | g.93923314G= | CA1803280902 | PDP1 | c.1255G= (p.Gly419=) c.1330G= (p.Gly444=) c.1309G= (p.Gly437=) c.1417G= (p.Gly473=) | |
8 | g.93923314G>T | CA371696366 | PDP1 | c.1255G>T (p.Gly419Trp) c.1330G>T (p.Gly444Trp) c.1309G>T (p.Gly437Trp) c.1417G>T (p.Gly473Trp) | |
8 | g.93923315G>A | CA371696368 | PDP1 | c.1256G>A (p.Gly419Glu) c.1331G>A (p.Gly444Glu) c.1310G>A (p.Gly437Glu) c.1418G>A (p.Gly473Glu) | |
8 | g.93923315G>C | CA371696370 | PDP1 | c.1256G>C (p.Gly419Ala) c.1331G>C (p.Gly444Ala) c.1310G>C (p.Gly437Ala) c.1418G>C (p.Gly473Ala) | |
8 | g.93923315G>T | CA371696369 | PDP1 | c.1256G>T (p.Gly419Val) c.1331G>T (p.Gly444Val) c.1310G>T (p.Gly437Val) c.1418G>T (p.Gly473Val) | |
8 | g.93923316G>A | CA462118148 | PDP1 | c.1257G>A (p.Gly419=) c.1332G>A (p.Gly444=) c.1311G>A (p.Gly437=) c.1419G>A (p.Gly473=) | |
8 | g.93923316G>C | CA462118144 | PDP1 | c.1257G>C (p.Gly419=) c.1332G>C (p.Gly444=) c.1311G>C (p.Gly437=) c.1419G>C (p.Gly473=) | |
8 | g.93923316G>T | CA462118146 | PDP1 | c.1257G>T (p.Gly419=) c.1332G>T (p.Gly444=) c.1311G>T (p.Gly437=) c.1419G>T (p.Gly473=) | |
8 | g.93923317T>A | CA371696371 | PDP1 | c.1258T>A (p.Leu420Met) c.1333T>A (p.Leu445Met) c.1312T>A (p.Leu438Met) c.1420T>A (p.Leu474Met) | |
8 | g.93923317T>C | CA181376113 | PDP1 | c.1258T>C (p.Leu420=) c.1333T>C (p.Leu445=) c.1312T>C (p.Leu438=) c.1420T>C (p.Leu474=) | dbSNP |
8 | g.93923317T>G | CA4808799 | PDP1 | c.1258T>G (p.Leu420Val) c.1333T>G (p.Leu445Val) c.1312T>G (p.Leu438Val) c.1420T>G (p.Leu474Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.93923317T= | CA1803280903 | PDP1 | c.1258T= (p.Leu420=) c.1333T= (p.Leu445=) c.1312T= (p.Leu438=) c.1420T= (p.Leu474=) | |
8 | g.93923318T>A | CA371696372 | PDP1 | c.1259T>A (p.Leu420Ter) c.1334T>A (p.Leu445Ter) c.1313T>A (p.Leu438Ter) c.1421T>A (p.Leu474Ter) | |
8 | g.93923318T>C | CA371696373 | PDP1 | c.1259T>C (p.Leu420Ser) c.1334T>C (p.Leu445Ser) c.1313T>C (p.Leu438Ser) c.1421T>C (p.Leu474Ser) | |
8 | g.93923318T>G | CA371696374 | PDP1 | c.1259T>G (p.Leu420Trp) c.1334T>G (p.Leu445Trp) c.1313T>G (p.Leu438Trp) c.1421T>G (p.Leu474Trp) | |
8 | g.93923319G>A | CA462118150 | PDP1 | c.1260G>A (p.Leu420=) c.1335G>A (p.Leu445=) c.1314G>A (p.Leu438=) c.1422G>A (p.Leu474=) | |
8 | g.93923319G>C | CA371696375 | PDP1 | c.1260G>C (p.Leu420Phe) c.1335G>C (p.Leu445Phe) c.1314G>C (p.Leu438Phe) c.1422G>C (p.Leu474Phe) | gnomAD v4 |
8 | g.93923319G>T | CA371696376 | PDP1 | c.1260G>T (p.Leu420Phe) c.1335G>T (p.Leu445Phe) c.1314G>T (p.Leu438Phe) c.1422G>T (p.Leu474Phe) | |
8 | g.93923320T>A | CA371696377 | PDP1 | c.1261T>A (p.Trp421Arg) c.1336T>A (p.Trp446Arg) c.1315T>A (p.Trp439Arg) c.1423T>A (p.Trp475Arg) | |
8 | g.93923320T>C | CA371696378 | PDP1 | c.1261T>C (p.Trp421Arg) c.1336T>C (p.Trp446Arg) c.1315T>C (p.Trp439Arg) c.1423T>C (p.Trp475Arg) | |
8 | g.93923320T>G | CA371696379 | PDP1 | c.1261T>G (p.Trp421Gly) c.1336T>G (p.Trp446Gly) c.1315T>G (p.Trp439Gly) c.1423T>G (p.Trp475Gly) | |
8 | g.93923321G>A | CA371696380 | PDP1 | c.1262G>A (p.Trp421Ter) c.1337G>A (p.Trp446Ter) c.1316G>A (p.Trp439Ter) c.1424G>A (p.Trp475Ter) | |
8 | g.93923321G>C | CA371696381 | PDP1 | c.1262G>C (p.Trp421Ser) c.1337G>C (p.Trp446Ser) c.1316G>C (p.Trp439Ser) c.1424G>C (p.Trp475Ser) | |
8 | g.93923321G>T | CA371696382 | PDP1 | c.1262G>T (p.Trp421Leu) c.1337G>T (p.Trp446Leu) c.1316G>T (p.Trp439Leu) c.1424G>T (p.Trp475Leu) |