| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.93923322G>A | CA16605443 | PDP1 | c.1263G>A (p.Trp421Ter) c.1338G>A (p.Trp446Ter) c.1317G>A (p.Trp439Ter) c.1425G>A (p.Trp475Ter) | ClinVar dbSNP |
| 8 | g.93923322G>C | CA371696383 | PDP1 | c.1263G>C (p.Trp421Cys) c.1338G>C (p.Trp446Cys) c.1317G>C (p.Trp439Cys) c.1425G>C (p.Trp475Cys) | |
| 8 | g.93923322G= | CA1803280904 | PDP1 | c.1263G= (p.Trp421=) c.1338G= (p.Trp446=) c.1317G= (p.Trp439=) c.1425G= (p.Trp475=) | |
| 8 | g.93923322G>T | CA371696384 | PDP1 | c.1263G>T (p.Trp421Cys) c.1338G>T (p.Trp446Cys) c.1317G>T (p.Trp439Cys) c.1425G>T (p.Trp475Cys) | |
| 8 | g.93923323G>A | CA371696387 | PDP1 | c.1264G>A (p.Glu422Lys) c.1339G>A (p.Glu447Lys) c.1318G>A (p.Glu440Lys) c.1426G>A (p.Glu476Lys) | |
| 8 | g.93923323G>C | CA371696386 | PDP1 | c.1264G>C (p.Glu422Gln) c.1339G>C (p.Glu447Gln) c.1318G>C (p.Glu440Gln) c.1426G>C (p.Glu476Gln) | |
| 8 | g.93923323G>T | CA371696385 | PDP1 | c.1264G>T (p.Glu422Ter) c.1339G>T (p.Glu447Ter) c.1318G>T (p.Glu440Ter) c.1426G>T (p.Glu476Ter) | |
| 8 | g.93923324A>C | CA371696388 | PDP1 | c.1265A>C (p.Glu422Ala) c.1340A>C (p.Glu447Ala) c.1319A>C (p.Glu440Ala) c.1427A>C (p.Glu476Ala) | |
| 8 | g.93923324A>G | CA371696389 | PDP1 | c.1265A>G (p.Glu422Gly) c.1340A>G (p.Glu447Gly) c.1319A>G (p.Glu440Gly) c.1427A>G (p.Glu476Gly) | |
| 8 | g.93923324A>T | CA371696392 | PDP1 | c.1265A>T (p.Glu422Val) c.1340A>T (p.Glu447Val) c.1319A>T (p.Glu440Val) c.1427A>T (p.Glu476Val) | |
| 8 | g.93923325G>A | CA462118151 | PDP1 | c.1266G>A (p.Glu422=) c.1341G>A (p.Glu447=) c.1320G>A (p.Glu440=) c.1428G>A (p.Glu476=) | |
| 8 | g.93923325G>C | CA371696394 | PDP1 | c.1266G>C (p.Glu422Asp) c.1341G>C (p.Glu447Asp) c.1320G>C (p.Glu440Asp) c.1428G>C (p.Glu476Asp) | |
| 8 | g.93923325G>T | CA371696395 | PDP1 | c.1266G>T (p.Glu422Asp) c.1341G>T (p.Glu447Asp) c.1320G>T (p.Glu440Asp) c.1428G>T (p.Glu476Asp) | |
| 8 | g.93923326A= | CA1803280905 | PDP1 | c.1267A= (p.Thr423=) c.1342A= (p.Thr448=) c.1321A= (p.Thr441=) c.1429A= (p.Thr477=) | |
| 8 | g.93923326A>C | CA371696397 | PDP1 | c.1267A>C (p.Thr423Pro) c.1342A>C (p.Thr448Pro) c.1321A>C (p.Thr441Pro) c.1429A>C (p.Thr477Pro) | |
| 8 | g.93923326A>G | CA4808800 | PDP1 | c.1267A>G (p.Thr423Ala) c.1342A>G (p.Thr448Ala) c.1321A>G (p.Thr441Ala) c.1429A>G (p.Thr477Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923326A>T | CA371696399 | PDP1 | c.1267A>T (p.Thr423Ser) c.1342A>T (p.Thr448Ser) c.1321A>T (p.Thr441Ser) c.1429A>T (p.Thr477Ser) | |
| 8 | g.93923327C>A | CA371696401 | PDP1 | c.1268C>A (p.Thr423Asn) c.1343C>A (p.Thr448Asn) c.1322C>A (p.Thr441Asn) c.1430C>A (p.Thr477Asn) | ClinVar dbSNP |
| 8 | g.93923327C>G | CA371696406 | PDP1 | c.1268C>G (p.Thr423Ser) c.1343C>G (p.Thr448Ser) c.1322C>G (p.Thr441Ser) c.1430C>G (p.Thr477Ser) | |
| 8 | g.93923327C>T | CA371696408 | PDP1 | c.1268C>T (p.Thr423Ile) c.1343C>T (p.Thr448Ile) c.1322C>T (p.Thr441Ile) c.1430C>T (p.Thr477Ile) | gnomAD v4 |
| 8 | g.93923327_93923329delinsCTA | CA1803280906 | PDP1 | c.1268_1270delinsCTA (p.Thr423=) c.1343_1345delinsCTA (p.Thr448=) c.1322_1324delinsCTA (p.Thr441=) c.1430_1432delinsCTA (p.Thr477=) | |
| 8 | g.93923328T>A | CA462118152 | PDP1 | c.1269T>A (p.Thr423=) c.1344T>A (p.Thr448=) c.1323T>A (p.Thr441=) c.1431T>A (p.Thr477=) | |
| 8 | g.93923328T>C | CA462118153 | PDP1 | c.1269T>C (p.Thr423=) c.1344T>C (p.Thr448=) c.1323T>C (p.Thr441=) c.1431T>C (p.Thr477=) | |
| 8 | g.93923328T>G | CA462118154 | PDP1 | c.1269T>G (p.Thr423=) c.1344T>G (p.Thr448=) c.1323T>G (p.Thr441=) c.1431T>G (p.Thr477=) | |
| 8 | g.93923329_93923330del | CA583844356 | PDP1 | c.1270_1271del (p.Met424AlafsTer2) c.1345_1346del (p.Met449AlafsTer2) c.1324_1325del (p.Met442AlafsTer2) c.1432_1433del (p.Met478AlafsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923329A= | CA1803280907 | PDP1 | c.1270A= (p.Met424=) c.1345A= (p.Met449=) c.1324A= (p.Met442=) c.1432A= (p.Met478=) | |
| 8 | g.93923329A>C | CA371696411 | PDP1 | c.1270A>C (p.Met424Leu) c.1345A>C (p.Met449Leu) c.1324A>C (p.Met442Leu) c.1432A>C (p.Met478Leu) | gnomAD v4 |
| 8 | g.93923329A>G | CA371696412 | PDP1 | c.1270A>G (p.Met424Val) c.1345A>G (p.Met449Val) c.1324A>G (p.Met442Val) c.1432A>G (p.Met478Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923329A>T | CA371696414 | PDP1 | c.1270A>T (p.Met424Leu) c.1345A>T (p.Met449Leu) c.1324A>T (p.Met442Leu) c.1432A>T (p.Met478Leu) | |
| 8 | g.93923330T>A | CA371696418 | PDP1 | c.1271T>A (p.Met424Lys) c.1346T>A (p.Met449Lys) c.1325T>A (p.Met442Lys) c.1433T>A (p.Met478Lys) | |
| 8 | g.93923330T>C | CA371696419 | PDP1 | c.1271T>C (p.Met424Thr) c.1346T>C (p.Met449Thr) c.1325T>C (p.Met442Thr) c.1433T>C (p.Met478Thr) | |
| 8 | g.93923330T>G | CA371696416 | PDP1 | c.1271T>G (p.Met424Arg) c.1346T>G (p.Met449Arg) c.1325T>G (p.Met442Arg) c.1433T>G (p.Met478Arg) | |
| 8 | g.93923331G>A | CA371696422 | PDP1 | c.1272G>A (p.Met424Ile) c.1347G>A (p.Met449Ile) c.1326G>A (p.Met442Ile) c.1434G>A (p.Met478Ile) | gnomAD v4 |
| 8 | g.93923331G>C | CA371696423 | PDP1 | c.1272G>C (p.Met424Ile) c.1347G>C (p.Met449Ile) c.1326G>C (p.Met442Ile) c.1434G>C (p.Met478Ile) | |
| 8 | g.93923331G>T | CA371696425 | PDP1 | c.1272G>T (p.Met424Ile) c.1347G>T (p.Met449Ile) c.1326G>T (p.Met442Ile) c.1434G>T (p.Met478Ile) | |
| 8 | g.93923332C>A | CA371696426 | PDP1 | c.1273C>A (p.His425Asn) c.1348C>A (p.His450Asn) c.1327C>A (p.His443Asn) c.1435C>A (p.His479Asn) | |
| 8 | g.93923332C>G | CA371696428 | PDP1 | c.1273C>G (p.His425Asp) c.1348C>G (p.His450Asp) c.1327C>G (p.His443Asp) c.1435C>G (p.His479Asp) | |
| 8 | g.93923332C>T | CA371696430 | PDP1 | c.1273C>T (p.His425Tyr) c.1348C>T (p.His450Tyr) c.1327C>T (p.His443Tyr) c.1435C>T (p.His479Tyr) | COSMIC COSMIC |
| 8 | g.93923333A= | CA1803280908 | PDP1 | c.1274A= (p.His425=) c.1349A= (p.His450=) c.1328A= (p.His443=) c.1436A= (p.His479=) | |
| 8 | g.93923333A>C | CA371696432 | PDP1 | c.1274A>C (p.His425Pro) c.1349A>C (p.His450Pro) c.1328A>C (p.His443Pro) c.1436A>C (p.His479Pro) | |
| 8 | g.93923333A>G | CA4808801 | PDP1 | c.1274A>G (p.His425Arg) c.1349A>G (p.His450Arg) c.1328A>G (p.His443Arg) c.1436A>G (p.His479Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923333A>T | CA371696435 | PDP1 | c.1274A>T (p.His425Leu) c.1349A>T (p.His450Leu) c.1328A>T (p.His443Leu) c.1436A>T (p.His479Leu) | |
| 8 | g.93923334T>A | CA371696437 | PDP1 | c.1275T>A (p.His425Gln) c.1350T>A (p.His450Gln) c.1329T>A (p.His443Gln) c.1437T>A (p.His479Gln) | |
| 8 | g.93923334T>C | CA181376124 | PDP1 | c.1275T>C (p.His425=) c.1350T>C (p.His450=) c.1329T>C (p.His443=) c.1437T>C (p.His479=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923334T>G | CA371696439 | PDP1 | c.1275T>G (p.His425Gln) c.1350T>G (p.His450Gln) c.1329T>G (p.His443Gln) c.1437T>G (p.His479Gln) | |
| 8 | g.93923334T= | CA1803280909 | PDP1 | c.1275T= (p.His425=) c.1350T= (p.His450=) c.1329T= (p.His443=) c.1437T= (p.His479=) | |
| 8 | g.93923335A>C | CA462118155 | PDP1 | c.1276A>C (p.Arg426=) c.1351A>C (p.Arg451=) c.1330A>C (p.Arg444=) c.1438A>C (p.Arg480=) | |
| 8 | g.93923335A>G | CA371696441 | PDP1 | c.1276A>G (p.Arg426Gly) c.1351A>G (p.Arg451Gly) c.1330A>G (p.Arg444Gly) c.1438A>G (p.Arg480Gly) | gnomAD v4 |
| 8 | g.93923335A>T | CA371696443 | PDP1 | c.1276A>T (p.Arg426Trp) c.1351A>T (p.Arg451Trp) c.1330A>T (p.Arg444Trp) c.1438A>T (p.Arg480Trp) | gnomAD v4 |
| 8 | g.93923336G>A | CA371696446 | PDP1 | c.1277G>A (p.Arg426Lys) c.1352G>A (p.Arg451Lys) c.1331G>A (p.Arg444Lys) c.1439G>A (p.Arg480Lys) | |
| 8 | g.93923336G>C | CA371696444 | PDP1 | c.1277G>C (p.Arg426Thr) c.1352G>C (p.Arg451Thr) c.1331G>C (p.Arg444Thr) c.1439G>C (p.Arg480Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923336G= | CA1803280910 | PDP1 | c.1277G= (p.Arg426=) c.1352G= (p.Arg451=) c.1331G= (p.Arg444=) c.1439G= (p.Arg480=) | |
| 8 | g.93923336G>T | CA371696445 | PDP1 | c.1277G>T (p.Arg426Met) c.1352G>T (p.Arg451Met) c.1331G>T (p.Arg444Met) c.1439G>T (p.Arg480Met) | gnomAD v4 |
| 8 | g.93923337G>A | CA462118156 | PDP1 | c.1278G>A (p.Arg426=) c.1353G>A (p.Arg451=) c.1332G>A (p.Arg444=) c.1440G>A (p.Arg480=) | |
| 8 | g.93923337G>C | CA371696447 | PDP1 | c.1278G>C (p.Arg426Ser) c.1353G>C (p.Arg451Ser) c.1332G>C (p.Arg444Ser) c.1440G>C (p.Arg480Ser) | |
| 8 | g.93923337G>T | CA371696448 | PDP1 | c.1278G>T (p.Arg426Ser) c.1353G>T (p.Arg451Ser) c.1332G>T (p.Arg444Ser) c.1440G>T (p.Arg480Ser) | |
| 8 | g.93923338C>A | CA371696449 | PDP1 | c.1279C>A (p.Gln427Lys) c.1354C>A (p.Gln452Lys) c.1333C>A (p.Gln445Lys) c.1441C>A (p.Gln481Lys) | |
| 8 | g.93923338C>G | CA371696451 | PDP1 | c.1279C>G (p.Gln427Glu) c.1354C>G (p.Gln452Glu) c.1333C>G (p.Gln445Glu) c.1441C>G (p.Gln481Glu) | |
| 8 | g.93923338C>T | CA371696453 | PDP1 | c.1279C>T (p.Gln427Ter) c.1354C>T (p.Gln452Ter) c.1333C>T (p.Gln445Ter) c.1441C>T (p.Gln481Ter) | |
| 8 | g.93923339A>C | CA371696455 | PDP1 | c.1280A>C (p.Gln427Pro) c.1355A>C (p.Gln452Pro) c.1334A>C (p.Gln445Pro) c.1442A>C (p.Gln481Pro) | |
| 8 | g.93923339A>G | CA371696456 | PDP1 | c.1280A>G (p.Gln427Arg) c.1355A>G (p.Gln452Arg) c.1334A>G (p.Gln445Arg) c.1442A>G (p.Gln481Arg) | gnomAD v4 |
| 8 | g.93923339A>T | CA371696458 | PDP1 | c.1280A>T (p.Gln427Leu) c.1355A>T (p.Gln452Leu) c.1334A>T (p.Gln445Leu) c.1442A>T (p.Gln481Leu) | |
| 8 | g.93923340G>A | CA4808803 | PDP1 | c.1281G>A (p.Gln427=) c.1356G>A (p.Gln452=) c.1335G>A (p.Gln445=) c.1443G>A (p.Gln481=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923340G>C | CA4808802 | PDP1 | c.1281G>C (p.Gln427His) c.1356G>C (p.Gln452His) c.1335G>C (p.Gln445His) c.1443G>C (p.Gln481His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.93923340G= | CA1803280911 | PDP1 | c.1281G= (p.Gln427=) c.1356G= (p.Gln452=) c.1335G= (p.Gln445=) c.1443G= (p.Gln481=) | |
| 8 | g.93923340G>T | CA371696462 | PDP1 | c.1281G>T (p.Gln427His) c.1356G>T (p.Gln452His) c.1335G>T (p.Gln445His) c.1443G>T (p.Gln481His) | |
| 8 | g.93923341G>A | CA371696463 | PDP1 | c.1282G>A (p.Asp428Asn) c.1357G>A (p.Asp453Asn) c.1336G>A (p.Asp446Asn) c.1444G>A (p.Asp482Asn) | |
| 8 | g.93923341G>C | CA371696466 | PDP1 | c.1282G>C (p.Asp428His) c.1357G>C (p.Asp453His) c.1336G>C (p.Asp446His) c.1444G>C (p.Asp482His) | |
| 8 | g.93923341G= | CA1803280912 | PDP1 | c.1282G= (p.Asp428=) c.1357G= (p.Asp453=) c.1336G= (p.Asp446=) c.1444G= (p.Asp482=) | |
| 8 | g.93923341G>T | CA371696464 | PDP1 | c.1282G>T (p.Asp428Tyr) c.1357G>T (p.Asp453Tyr) c.1336G>T (p.Asp446Tyr) c.1444G>T (p.Asp482Tyr) | dbSNP gnomAD v2 |
| 8 | g.93923342A= | CA1803280913 | PDP1 | c.1283A= (p.Asp428=) c.1358A= (p.Asp453=) c.1337A= (p.Asp446=) c.1445A= (p.Asp482=) | |
| 8 | g.93923342A>C | CA371696467 | PDP1 | c.1283A>C (p.Asp428Ala) c.1358A>C (p.Asp453Ala) c.1337A>C (p.Asp446Ala) c.1445A>C (p.Asp482Ala) | |
| 8 | g.93923342A>G | CA371696471 | PDP1 | c.1283A>G (p.Asp428Gly) c.1358A>G (p.Asp453Gly) c.1337A>G (p.Asp446Gly) c.1445A>G (p.Asp482Gly) | ClinVar dbSNP |
| 8 | g.93923342A>T | CA371696469 | PDP1 | c.1283A>T (p.Asp428Val) c.1358A>T (p.Asp453Val) c.1337A>T (p.Asp446Val) c.1445A>T (p.Asp482Val) | gnomAD v4 |
| 8 | g.93923343T>A | CA371696472 | PDP1 | c.1284T>A (p.Asp428Glu) c.1359T>A (p.Asp453Glu) c.1338T>A (p.Asp446Glu) c.1446T>A (p.Asp482Glu) | ClinVar dbSNP |
| 8 | g.93923343T>C | CA4808804 | PDP1 | c.1284T>C (p.Asp428=) c.1359T>C (p.Asp453=) c.1338T>C (p.Asp446=) c.1446T>C (p.Asp482=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.93923343T>G | CA371696473 | PDP1 | c.1284T>G (p.Asp428Glu) c.1359T>G (p.Asp453Glu) c.1338T>G (p.Asp446Glu) c.1446T>G (p.Asp482Glu) | |
| 8 | g.93923343T= | CA1803280914 | PDP1 | c.1284T= (p.Asp428=) c.1359T= (p.Asp453=) c.1338T= (p.Asp446=) c.1446T= (p.Asp482=) | |
| 8 | g.93923344G>A | CA371696475 | PDP1 | c.1285G>A (p.Val429Met) c.1360G>A (p.Val454Met) c.1339G>A (p.Val447Met) c.1447G>A (p.Val483Met) | gnomAD v4 |
| 8 | g.93923344G>C | CA371696476 | PDP1 | c.1285G>C (p.Val429Leu) c.1360G>C (p.Val454Leu) c.1339G>C (p.Val447Leu) c.1447G>C (p.Val483Leu) | |
| 8 | g.93923344G= | CA1803280915 | PDP1 | c.1285G= (p.Val429=) c.1360G= (p.Val454=) c.1339G= (p.Val447=) c.1447G= (p.Val483=) | |
| 8 | g.93923344G>T | CA371696478 | PDP1 | c.1285G>T (p.Val429Leu) c.1360G>T (p.Val454Leu) c.1339G>T (p.Val447Leu) c.1447G>T (p.Val483Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.93923345T>A | CA371696480 | PDP1 | c.1286T>A (p.Val429Glu) c.1361T>A (p.Val454Glu) c.1340T>A (p.Val447Glu) c.1448T>A (p.Val483Glu) | |
| 8 | g.93923345T>C | CA371696481 | PDP1 | c.1286T>C (p.Val429Ala) c.1361T>C (p.Val454Ala) c.1340T>C (p.Val447Ala) c.1448T>C (p.Val483Ala) | gnomAD v4 |
| 8 | g.93923345T>G | CA371696482 | PDP1 | c.1286T>G (p.Val429Gly) c.1361T>G (p.Val454Gly) c.1340T>G (p.Val447Gly) c.1448T>G (p.Val483Gly) | |
| 8 | g.93923346G>A | CA462118157 | PDP1 | c.1287G>A (p.Val429=) c.1362G>A (p.Val454=) c.1341G>A (p.Val447=) c.1449G>A (p.Val483=) | |
| 8 | g.93923346G>C | CA462118158 | PDP1 | c.1287G>C (p.Val429=) c.1362G>C (p.Val454=) c.1341G>C (p.Val447=) c.1449G>C (p.Val483=) | |
| 8 | g.93923346G>T | CA462118159 | PDP1 | c.1287G>T (p.Val429=) c.1362G>T (p.Val454=) c.1341G>T (p.Val447=) c.1449G>T (p.Val483=) | |
| 8 | g.93923347G>A | CA371696484 | PDP1 | c.1288G>A (p.Val430Ile) c.1363G>A (p.Val455Ile) c.1342G>A (p.Val448Ile) c.1450G>A (p.Val484Ile) | |
| 8 | g.93923347G>C | CA371696485 | PDP1 | c.1288G>C (p.Val430Leu) c.1363G>C (p.Val455Leu) c.1342G>C (p.Val448Leu) c.1450G>C (p.Val484Leu) | |
| 8 | g.93923347G>T | CA371696487 | PDP1 | c.1288G>T (p.Val430Phe) c.1363G>T (p.Val455Phe) c.1342G>T (p.Val448Phe) c.1450G>T (p.Val484Phe) | |
| 8 | g.93923348T>A | CA371696492 | PDP1 | c.1289T>A (p.Val430Asp) c.1364T>A (p.Val455Asp) c.1343T>A (p.Val448Asp) c.1451T>A (p.Val484Asp) | |
| 8 | g.93923348T>C | CA371696489 | PDP1 | c.1289T>C (p.Val430Ala) c.1364T>C (p.Val455Ala) c.1343T>C (p.Val448Ala) c.1451T>C (p.Val484Ala) | |
| 8 | g.93923348T>G | CA371696490 | PDP1 | c.1289T>G (p.Val430Gly) c.1364T>G (p.Val455Gly) c.1343T>G (p.Val448Gly) c.1451T>G (p.Val484Gly) | |
| 8 | g.93923349T>A | CA462118160 | PDP1 | c.1290T>A (p.Val430=) c.1365T>A (p.Val455=) c.1344T>A (p.Val448=) c.1452T>A (p.Val484=) | |
| 8 | g.93923349T>C | CA462118161 | PDP1 | c.1290T>C (p.Val430=) c.1365T>C (p.Val455=) c.1344T>C (p.Val448=) c.1452T>C (p.Val484=) | |
| 8 | g.93923349T>G | CA462118162 | PDP1 | c.1290T>G (p.Val430=) c.1365T>G (p.Val455=) c.1344T>G (p.Val448=) c.1452T>G (p.Val484=) | |
| 8 | g.93923350A>C | CA462118163 | PDP1 | c.1291A>C (p.Arg431=) c.1366A>C (p.Arg456=) c.1345A>C (p.Arg449=) c.1453A>C (p.Arg485=) | |
| 8 | g.93923350A>G | CA371696494 | PDP1 | c.1291A>G (p.Arg431Gly) c.1366A>G (p.Arg456Gly) c.1345A>G (p.Arg449Gly) c.1453A>G (p.Arg485Gly) | |
| 8 | g.93923350A>T | CA371696496 | PDP1 | c.1291A>T (p.Arg431Trp) c.1366A>T (p.Arg456Trp) c.1345A>T (p.Arg449Trp) c.1453A>T (p.Arg485Trp) | |
| 8 | g.93923351G>A | CA371696498 | PDP1 | c.1292G>A (p.Arg431Lys) c.1367G>A (p.Arg456Lys) c.1346G>A (p.Arg449Lys) c.1454G>A (p.Arg485Lys) | |
| 8 | g.93923351G>C | CA371696499 | PDP1 | c.1292G>C (p.Arg431Thr) c.1367G>C (p.Arg456Thr) c.1346G>C (p.Arg449Thr) c.1454G>C (p.Arg485Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.93923351G= | CA1803280916 | PDP1 | c.1292G= (p.Arg431=) c.1367G= (p.Arg456=) c.1346G= (p.Arg449=) c.1454G= (p.Arg485=) | |
| 8 | g.93923351G>T | CA371696501 | PDP1 | c.1292G>T (p.Arg431Met) c.1367G>T (p.Arg456Met) c.1346G>T (p.Arg449Met) c.1454G>T (p.Arg485Met) |