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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16006606_16006620del | CA2670099977 | PROM1 | c.1373_1387del (p.Cys458_Gly462del) c.*1056_*1070del (n.*1056_*1070del) c.1346_1360del (p.Cys449_Gly453del) c.1431_1445del c.1139_1153del (p.Cys380_Gly384del) c.1166_1180del (p.Cys389_Gly393del) c.1100_1114del (p.Cys367_Gly371del) | gnomAD v4 |
| 4 | g.16006618A>C | CA356435372 | PROM1 | c.1374T>G (p.Cys458Trp) c.*1057T>G (n.*1057T>G) c.1347T>G (p.Cys449Trp) c.1432T>G c.1140T>G (p.Cys380Trp) c.1167T>G (p.Cys389Trp) c.1101T>G (p.Cys367Trp) | |
| 4 | g.16006618A>G | CA438386872 | PROM1 | c.1374T>C (p.Cys458=) c.*1057T>C (n.*1057T>C) c.1347T>C (p.Cys449=) c.1432T>C c.1140T>C (p.Cys380=) c.1167T>C (p.Cys389=) c.1101T>C (p.Cys367=) | |
| 4 | g.16006618A>T | CA356435373 | PROM1 | c.1374T>A (p.Cys458Ter) c.*1057T>A (n.*1057T>A) c.1347T>A (p.Cys449Ter) c.1432T>A c.1140T>A (p.Cys380Ter) c.1167T>A (p.Cys389Ter) c.1101T>A (p.Cys367Ter) | |
| 4 | g.16006619C>A | CA356435376 | PROM1 | c.1373G>T (p.Cys458Phe) c.*1056G>T (n.*1056G>T) c.1346G>T (p.Cys449Phe) c.1431G>T c.1139G>T (p.Cys380Phe) c.1166G>T (p.Cys389Phe) c.1100G>T (p.Cys367Phe) | |
| 4 | g.16006619C= | CA1440916690 | PROM1 | c.1373G= (p.Cys458=) c.*1056G= (n.*1056G=) c.1346G= (p.Cys449=) c.1431G= c.1139G= (p.Cys380=) c.1166G= (p.Cys389=) c.1100G= (p.Cys367=) | |
| 4 | g.16006619C>G | CA356435378 | PROM1 | c.1373G>C (p.Cys458Ser) c.*1056G>C (n.*1056G>C) c.1346G>C (p.Cys449Ser) c.1431G>C c.1139G>C (p.Cys380Ser) c.1166G>C (p.Cys389Ser) c.1100G>C (p.Cys367Ser) | |
| 4 | g.16006619C>T | CA2866790 | PROM1 | c.1373G>A (p.Cys458Tyr) c.*1056G>A (n.*1056G>A) c.1346G>A (p.Cys449Tyr) c.1431G>A c.1139G>A (p.Cys380Tyr) c.1166G>A (p.Cys389Tyr) c.1100G>A (p.Cys367Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006620A>C | CA356435381 | PROM1 | c.1372T>G (p.Cys458Gly) c.*1055T>G (n.*1055T>G) c.1345T>G (p.Cys449Gly) c.1430T>G c.1138T>G (p.Cys380Gly) c.1165T>G (p.Cys389Gly) c.1099T>G (p.Cys367Gly) | |
| 4 | g.16006620A>G | CA356435383 | PROM1 | c.1372T>C (p.Cys458Arg) c.*1055T>C (n.*1055T>C) c.1345T>C (p.Cys449Arg) c.1430T>C c.1138T>C (p.Cys380Arg) c.1165T>C (p.Cys389Arg) c.1099T>C (p.Cys367Arg) | |
| 4 | g.16006620A>T | CA356435384 | PROM1 | c.1372T>A (p.Cys458Ser) c.*1055T>A (n.*1055T>A) c.1345T>A (p.Cys449Ser) c.1430T>A c.1138T>A (p.Cys380Ser) c.1165T>A (p.Cys389Ser) c.1099T>A (p.Cys367Ser) | |
| 4 | g.16006621C>A | CA438386876 | PROM1 | c.1371G>T (p.Leu457=) c.*1054G>T (n.*1054G>T) c.1344G>T (p.Leu448=) c.1429G>T c.1137G>T (p.Leu379=) c.1164G>T (p.Leu388=) c.1098G>T (p.Leu366=) | gnomAD v4 |
| 4 | g.16006621C>G | CA438386877 | PROM1 | c.1371G>C (p.Leu457=) c.*1054G>C (n.*1054G>C) c.1344G>C (p.Leu448=) c.1429G>C c.1137G>C (p.Leu379=) c.1164G>C (p.Leu388=) c.1098G>C (p.Leu366=) | |
| 4 | g.16006621C>T | CA438386878 | PROM1 | c.1371G>A (p.Leu457=) c.*1054G>A (n.*1054G>A) c.1344G>A (p.Leu448=) c.1429G>A c.1137G>A (p.Leu379=) c.1164G>A (p.Leu388=) c.1098G>A (p.Leu366=) | gnomAD v4 |
| 4 | g.16006622A= | CA1440916691 | PROM1 | c.1370T= (p.Leu457=) c.*1053T= (n.*1053T=) c.1343T= (p.Leu448=) c.1428T= c.1136T= (p.Leu379=) c.1163T= (p.Leu388=) c.1097T= (p.Leu366=) | |
| 4 | g.16006622A>C | CA356435386 | PROM1 | c.1370T>G (p.Leu457Arg) c.*1053T>G (n.*1053T>G) c.1343T>G (p.Leu448Arg) c.1428T>G c.1136T>G (p.Leu379Arg) c.1163T>G (p.Leu388Arg) c.1097T>G (p.Leu366Arg) | |
| 4 | g.16006622A>G | CA2866791 | PROM1 | c.1370T>C (p.Leu457Pro) c.*1053T>C (n.*1053T>C) c.1343T>C (p.Leu448Pro) c.1428T>C c.1136T>C (p.Leu379Pro) c.1163T>C (p.Leu388Pro) c.1097T>C (p.Leu366Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006622A>T | CA356435385 | PROM1 | c.1370T>A (p.Leu457Gln) c.*1053T>A (n.*1053T>A) c.1343T>A (p.Leu448Gln) c.1428T>A c.1136T>A (p.Leu379Gln) c.1163T>A (p.Leu388Gln) c.1097T>A (p.Leu366Gln) | |
| 4 | g.16006623G>A | CA438386883 | PROM1 | c.1369C>T (p.Leu457=) c.*1052C>T (n.*1052C>T) c.1342C>T (p.Leu448=) c.1427C>T c.1135C>T (p.Leu379=) c.1162C>T (p.Leu388=) c.1096C>T (p.Leu366=) | |
| 4 | g.16006623G>C | CA356435391 | PROM1 | c.1369C>G (p.Leu457Val) c.*1052C>G (n.*1052C>G) c.1342C>G (p.Leu448Val) c.1427C>G c.1135C>G (p.Leu379Val) c.1162C>G (p.Leu388Val) c.1096C>G (p.Leu366Val) | |
| 4 | g.16006623G>T | CA356435388 | PROM1 | c.1369C>A (p.Leu457Met) c.*1052C>A (n.*1052C>A) c.1342C>A (p.Leu448Met) c.1427C>A c.1135C>A (p.Leu379Met) c.1162C>A (p.Leu388Met) c.1096C>A (p.Leu366Met) | |
| 4 | g.16006624T>A | CA356435393 | PROM1 | c.1368A>T (p.Leu456Phe) c.*1051A>T (n.*1051A>T) c.1341A>T (p.Leu447Phe) c.1426A>T c.1134A>T (p.Leu378Phe) c.1161A>T (p.Leu387Phe) c.1095A>T (p.Leu365Phe) | |
| 4 | g.16006624T>C | CA438386884 | PROM1 | c.1368A>G (p.Leu456=) c.*1051A>G (n.*1051A>G) c.1341A>G (p.Leu447=) c.1426A>G c.1134A>G (p.Leu378=) c.1161A>G (p.Leu387=) c.1095A>G (p.Leu365=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006624T>G | CA356435396 | PROM1 | c.1368A>C (p.Leu456Phe) c.*1051A>C (n.*1051A>C) c.1341A>C (p.Leu447Phe) c.1426A>C c.1134A>C (p.Leu378Phe) c.1161A>C (p.Leu387Phe) c.1095A>C (p.Leu365Phe) | gnomAD v4 |
| 4 | g.16006624T= | CA1440916692 | PROM1 | c.1368A= (p.Leu456=) c.*1051A= (n.*1051A=) c.1341A= (p.Leu447=) c.1426A= c.1134A= (p.Leu378=) c.1161A= (p.Leu387=) c.1095A= (p.Leu365=) | |
| 4 | g.16006625A>C | CA356435398 | PROM1 | c.1367T>G (p.Leu456Ter) c.*1050T>G (n.*1050T>G) c.1340T>G (p.Leu447Ter) c.1425T>G c.1133T>G (p.Leu378Ter) c.1160T>G (p.Leu387Ter) c.1094T>G (p.Leu365Ter) | |
| 4 | g.16006625A>G | CA356435399 | PROM1 | c.1367T>C (p.Leu456Ser) c.*1050T>C (n.*1050T>C) c.1340T>C (p.Leu447Ser) c.1425T>C c.1133T>C (p.Leu378Ser) c.1160T>C (p.Leu387Ser) c.1094T>C (p.Leu365Ser) | |
| 4 | g.16006625A>T | CA356435400 | PROM1 | c.1367T>A (p.Leu456Ter) c.*1050T>A (n.*1050T>A) c.1340T>A (p.Leu447Ter) c.1425T>A c.1133T>A (p.Leu378Ter) c.1160T>A (p.Leu387Ter) c.1094T>A (p.Leu365Ter) | |
| 4 | g.16006626A>C | CA356435402 | PROM1 | c.1366T>G (p.Leu456Val) c.*1049T>G (n.*1049T>G) c.1339T>G (p.Leu447Val) c.1424T>G c.1132T>G (p.Leu378Val) c.1159T>G (p.Leu387Val) c.1093T>G (p.Leu365Val) | |
| 4 | g.16006626A>G | CA438386885 | PROM1 | c.1366T>C (p.Leu456=) c.*1049T>C (n.*1049T>C) c.1339T>C (p.Leu447=) c.1424T>C c.1132T>C (p.Leu378=) c.1159T>C (p.Leu387=) c.1093T>C (p.Leu365=) | |
| 4 | g.16006626A>T | CA356435401 | PROM1 | c.1366T>A (p.Leu456Ile) c.*1049T>A (n.*1049T>A) c.1339T>A (p.Leu447Ile) c.1424T>A c.1132T>A (p.Leu378Ile) c.1159T>A (p.Leu387Ile) c.1093T>A (p.Leu365Ile) | |
| 4 | g.16006628_16006636del | CA2760553877 | PROM1 | c.1358_1366del (p.Tyr453_Gly455del) c.*1041_*1049del (n.*1041_*1049del) c.1331_1339del (p.Tyr444_Gly446del) c.1416_1424del c.1124_1132del (p.Tyr375_Gly377del) c.1151_1159del (p.Tyr384_Gly386del) c.1085_1093del (p.Tyr362_Gly364del) | |
| 4 | g.16006627G>A | CA438386886 | PROM1 | c.1365C>T (p.Gly455=) c.*1048C>T (n.*1048C>T) c.1338C>T (p.Gly446=) c.1423C>T c.1131C>T (p.Gly377=) c.1158C>T (p.Gly386=) c.1092C>T (p.Gly364=) | gnomAD v4 |
| 4 | g.16006627G>C | CA438386887 | PROM1 | c.1365C>G (p.Gly455=) c.*1048C>G (n.*1048C>G) c.1338C>G (p.Gly446=) c.1423C>G c.1131C>G (p.Gly377=) c.1158C>G (p.Gly386=) c.1092C>G (p.Gly364=) | |
| 4 | g.16006627G>T | CA438386888 | PROM1 | c.1365C>A (p.Gly455=) c.*1048C>A (n.*1048C>A) c.1338C>A (p.Gly446=) c.1423C>A c.1131C>A (p.Gly377=) c.1158C>A (p.Gly386=) c.1092C>A (p.Gly364=) | |
| 4 | g.16006628C>A | CA356435405 | PROM1 | c.1364G>T (p.Gly455Val) c.*1047G>T (n.*1047G>T) c.1337G>T (p.Gly446Val) c.1422G>T c.1130G>T (p.Gly377Val) c.1157G>T (p.Gly386Val) c.1091G>T (p.Gly364Val) | gnomAD v4 |
| 4 | g.16006628C= | CA1440916693 | PROM1 | c.1364G= (p.Gly455=) c.*1047G= (n.*1047G=) c.1337G= (p.Gly446=) c.1422G= c.1130G= (p.Gly377=) c.1157G= (p.Gly386=) c.1091G= (p.Gly364=) | |
| 4 | g.16006628C>G | CA356435406 | PROM1 | c.1364G>C (p.Gly455Ala) c.*1047G>C (n.*1047G>C) c.1337G>C (p.Gly446Ala) c.1422G>C c.1130G>C (p.Gly377Ala) c.1157G>C (p.Gly386Ala) c.1091G>C (p.Gly364Ala) | |
| 4 | g.16006628C>T | CA356435407 | PROM1 | c.1364G>A (p.Gly455Asp) c.*1047G>A (n.*1047G>A) c.1337G>A (p.Gly446Asp) c.1422G>A c.1130G>A (p.Gly377Asp) c.1157G>A (p.Gly386Asp) c.1091G>A (p.Gly364Asp) | dbSNP |
| 4 | g.16006629C>A | CA92594578 | PROM1 | c.1363G>T (p.Gly455Cys) c.*1046G>T (n.*1046G>T) c.1336G>T (p.Gly446Cys) c.1421G>T c.1129G>T (p.Gly377Cys) c.1156G>T (p.Gly386Cys) c.1090G>T (p.Gly364Cys) | dbSNP gnomAD v4 |
| 4 | g.16006629C= | CA1440916694 | PROM1 | c.1363G= (p.Gly455=) c.*1046G= (n.*1046G=) c.1336G= (p.Gly446=) c.1421G= c.1129G= (p.Gly377=) c.1156G= (p.Gly386=) c.1090G= (p.Gly364=) | |
| 4 | g.16006629C>G | CA356435408 | PROM1 | c.1363G>C (p.Gly455Arg) c.*1046G>C (n.*1046G>C) c.1336G>C (p.Gly446Arg) c.1421G>C c.1129G>C (p.Gly377Arg) c.1156G>C (p.Gly386Arg) c.1090G>C (p.Gly364Arg) | ClinVar |
| 4 | g.16006629C>T | CA356435413 | PROM1 | c.1363G>A (p.Gly455Ser) c.*1046G>A (n.*1046G>A) c.1336G>A (p.Gly446Ser) c.1421G>A c.1129G>A (p.Gly377Ser) c.1156G>A (p.Gly386Ser) c.1090G>A (p.Gly364Ser) | |
| 4 | g.16006630C>A | CA438386892 | PROM1 | c.1362G>T (p.Leu454=) c.*1045G>T (n.*1045G>T) c.1335G>T (p.Leu445=) c.1420G>T c.1128G>T (p.Leu376=) c.1155G>T (p.Leu385=) c.1089G>T (p.Leu363=) | |
| 4 | g.16006630C>G | CA438386893 | PROM1 | c.1362G>C (p.Leu454=) c.*1045G>C (n.*1045G>C) c.1335G>C (p.Leu445=) c.1420G>C c.1128G>C (p.Leu376=) c.1155G>C (p.Leu385=) c.1089G>C (p.Leu363=) | |
| 4 | g.16006630C>T | CA438386894 | PROM1 | c.1362G>A (p.Leu454=) c.*1045G>A (n.*1045G>A) c.1335G>A (p.Leu445=) c.1420G>A c.1128G>A (p.Leu376=) c.1155G>A (p.Leu385=) c.1089G>A (p.Leu363=) | |
| 4 | g.16006631A>C | CA356435416 | PROM1 | c.1361T>G (p.Leu454Arg) c.*1044T>G (n.*1044T>G) c.1334T>G (p.Leu445Arg) c.1419T>G c.1127T>G (p.Leu376Arg) c.1154T>G (p.Leu385Arg) c.1088T>G (p.Leu363Arg) | |
| 4 | g.16006631A>G | CA356435420 | PROM1 | c.1361T>C (p.Leu454Pro) c.*1044T>C (n.*1044T>C) c.1334T>C (p.Leu445Pro) c.1419T>C c.1127T>C (p.Leu376Pro) c.1154T>C (p.Leu385Pro) c.1088T>C (p.Leu363Pro) | gnomAD v4 |
| 4 | g.16006631A>T | CA356435418 | PROM1 | c.1361T>A (p.Leu454Gln) c.*1044T>A (n.*1044T>A) c.1334T>A (p.Leu445Gln) c.1419T>A c.1127T>A (p.Leu376Gln) c.1154T>A (p.Leu385Gln) c.1088T>A (p.Leu363Gln) | |
| 4 | g.16006632G>A | CA438386897 | PROM1 | c.1360C>T (p.Leu454=) c.*1043C>T (n.*1043C>T) c.1333C>T (p.Leu445=) c.1418C>T c.1126C>T (p.Leu376=) c.1153C>T (p.Leu385=) c.1087C>T (p.Leu363=) | |
| 4 | g.16006632G>C | CA2866792 | PROM1 | c.1360C>G (p.Leu454Val) c.*1043C>G (n.*1043C>G) c.1333C>G (p.Leu445Val) c.1418C>G c.1126C>G (p.Leu376Val) c.1153C>G (p.Leu385Val) c.1087C>G (p.Leu363Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006632G= | CA1440916695 | PROM1 | c.1360C= (p.Leu454=) c.*1043C= (n.*1043C=) c.1333C= (p.Leu445=) c.1418C= c.1126C= (p.Leu376=) c.1153C= (p.Leu385=) c.1087C= (p.Leu363=) | |
| 4 | g.16006632G>T | CA356435423 | PROM1 | c.1360C>A (p.Leu454Met) c.*1043C>A (n.*1043C>A) c.1333C>A (p.Leu445Met) c.1418C>A c.1126C>A (p.Leu376Met) c.1153C>A (p.Leu385Met) c.1087C>A (p.Leu363Met) | |
| 4 | g.16006633G>A | CA438386900 | PROM1 | c.1359C>T (p.Tyr453=) c.*1042C>T (n.*1042C>T) c.1332C>T (p.Tyr444=) c.1417C>T c.1125C>T (p.Tyr375=) c.1152C>T (p.Tyr384=) c.1086C>T (p.Tyr362=) | gnomAD v4 |
| 4 | g.16006633G>C | CA356435425 | PROM1 | c.1359C>G (p.Tyr453Ter) c.*1042C>G (n.*1042C>G) c.1332C>G (p.Tyr444Ter) c.1417C>G c.1125C>G (p.Tyr375Ter) c.1152C>G (p.Tyr384Ter) c.1086C>G (p.Tyr362Ter) | |
| 4 | g.16006633G>T | CA356435427 | PROM1 | c.1359C>A (p.Tyr453Ter) c.*1042C>A (n.*1042C>A) c.1332C>A (p.Tyr444Ter) c.1417C>A c.1125C>A (p.Tyr375Ter) c.1152C>A (p.Tyr384Ter) c.1086C>A (p.Tyr362Ter) | |
| 4 | g.16006634T>A | CA356435432 | PROM1 | c.1358A>T (p.Tyr453Phe) c.*1041A>T (n.*1041A>T) c.1331A>T (p.Tyr444Phe) c.1416A>T c.1124A>T (p.Tyr375Phe) c.1151A>T (p.Tyr384Phe) c.1085A>T (p.Tyr362Phe) | |
| 4 | g.16006634T>C | CA356435434 | PROM1 | c.1358A>G (p.Tyr453Cys) c.*1041A>G (n.*1041A>G) c.1331A>G (p.Tyr444Cys) c.1416A>G c.1124A>G (p.Tyr375Cys) c.1151A>G (p.Tyr384Cys) c.1085A>G (p.Tyr362Cys) | |
| 4 | g.16006634T>G | CA356435436 | PROM1 | c.1358A>C (p.Tyr453Ser) c.*1041A>C (n.*1041A>C) c.1331A>C (p.Tyr444Ser) c.1416A>C c.1124A>C (p.Tyr375Ser) c.1151A>C (p.Tyr384Ser) c.1085A>C (p.Tyr362Ser) | gnomAD v4 |
| 4 | g.16006635A= | CA1440916696 | PROM1 | c.1357T= (p.Tyr453=) c.*1040T= (n.*1040T=) c.1330T= (p.Tyr444=) c.1415T= c.1123T= (p.Tyr375=) c.1150T= (p.Tyr384=) c.1084T= (p.Tyr362=) | |
| 4 | g.16006635A>C | CA356435439 | PROM1 | c.1357T>G (p.Tyr453Asp) c.*1040T>G (n.*1040T>G) c.1330T>G (p.Tyr444Asp) c.1415T>G c.1123T>G (p.Tyr375Asp) c.1150T>G (p.Tyr384Asp) c.1084T>G (p.Tyr362Asp) | |
| 4 | g.16006635A>G | CA356435441 | PROM1 | c.1357T>C (p.Tyr453His) c.*1040T>C (n.*1040T>C) c.1330T>C (p.Tyr444His) c.1415T>C c.1123T>C (p.Tyr375His) c.1150T>C (p.Tyr384His) c.1084T>C (p.Tyr362His) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006635A>T | CA356435442 | PROM1 | c.1357T>A (p.Tyr453Asn) c.*1040T>A (n.*1040T>A) c.1330T>A (p.Tyr444Asn) c.1415T>A c.1123T>A (p.Tyr375Asn) c.1150T>A (p.Tyr384Asn) c.1084T>A (p.Tyr362Asn) | |
| 4 | g.16006636G>A | CA438386903 | PROM1 | c.1356C>T (p.Tyr452=) c.*1039C>T (n.*1039C>T) c.1329C>T (p.Tyr443=) c.1414C>T c.1122C>T (p.Tyr374=) c.1149C>T (p.Tyr383=) c.1083C>T (p.Tyr361=) | |
| 4 | g.16006636G>C | CA356435444 | PROM1 | c.1356C>G (p.Tyr452Ter) c.*1039C>G (n.*1039C>G) c.1329C>G (p.Tyr443Ter) c.1414C>G c.1122C>G (p.Tyr374Ter) c.1149C>G (p.Tyr383Ter) c.1083C>G (p.Tyr361Ter) | |
| 4 | g.16006636G>T | CA356435446 | PROM1 | c.1356C>A (p.Tyr452Ter) c.*1039C>A (n.*1039C>A) c.1329C>A (p.Tyr443Ter) c.1414C>A c.1122C>A (p.Tyr374Ter) c.1149C>A (p.Tyr383Ter) c.1083C>A (p.Tyr361Ter) | |
| 4 | g.16006636_16006637insA | CA2586973708 | PROM1 | c.1355_1356insT (p.Tyr453LeufsTer12) c.*1038_*1039insT (n.*1038_*1039insT) c.1328_1329insT (p.Tyr444LeufsTer12) c.1413_1414insT c.1121_1122insT (p.Tyr375LeufsTer12) c.1148_1149insT (p.Tyr384LeufsTer12) c.1082_1083insT (p.Tyr362LeufsTer12) | |
| 4 | g.16006637T>A | CA356435451 | PROM1 | c.1355A>T (p.Tyr452Phe) c.*1038A>T (n.*1038A>T) c.1328A>T (p.Tyr443Phe) c.1413A>T c.1121A>T (p.Tyr374Phe) c.1148A>T (p.Tyr383Phe) c.1082A>T (p.Tyr361Phe) | |
| 4 | g.16006637T>C | CA356435453 | PROM1 | c.1355A>G (p.Tyr452Cys) c.*1038A>G (n.*1038A>G) c.1328A>G (p.Tyr443Cys) c.1413A>G c.1121A>G (p.Tyr374Cys) c.1148A>G (p.Tyr383Cys) c.1082A>G (p.Tyr361Cys) | |
| 4 | g.16006637T>G | CA356435449 | PROM1 | c.1355A>C (p.Tyr452Ser) c.*1038A>C (n.*1038A>C) c.1328A>C (p.Tyr443Ser) c.1413A>C c.1121A>C (p.Tyr374Ser) c.1148A>C (p.Tyr383Ser) c.1082A>C (p.Tyr361Ser) | |
| 4 | g.16006637T= | CA1440916697 | PROM1 | c.1355A= (p.Tyr452=) c.*1038A= (n.*1038A=) c.1328A= (p.Tyr443=) c.1413A= c.1121A= (p.Tyr374=) c.1148A= (p.Tyr383=) c.1082A= (p.Tyr361=) | |
| 4 | g.16006638A>C | CA356435458 | PROM1 | c.1354T>G (p.Tyr452Asp) c.*1037T>G (n.*1037T>G) c.1327T>G (p.Tyr443Asp) c.1412T>G c.1120T>G (p.Tyr374Asp) c.1147T>G (p.Tyr383Asp) c.1081T>G (p.Tyr361Asp) | |
| 4 | g.16006638A>G | CA356435460 | PROM1 | c.1354T>C (p.Tyr452His) c.*1037T>C (n.*1037T>C) c.1327T>C (p.Tyr443His) c.1412T>C c.1120T>C (p.Tyr374His) c.1147T>C (p.Tyr383His) c.1081T>C (p.Tyr361His) | |
| 4 | g.16006638A>T | CA356435456 | PROM1 | c.1354T>A (p.Tyr452Asn) c.*1037T>A (n.*1037T>A) c.1327T>A (p.Tyr443Asn) c.1412T>A c.1120T>A (p.Tyr374Asn) c.1147T>A (p.Tyr383Asn) c.1081T>A (p.Tyr361Asn) | |
| 4 | g.16006643dup | CA2866793 | PROM1 | c.1354dup (p.Tyr452LeufsTer13) c.*1037dup (n.*1037dup) c.1327dup (p.Tyr443LeufsTer13) c.1412dup c.1120dup (p.Tyr374LeufsTer13) c.1147dup (p.Tyr383LeufsTer13) c.1081dup (p.Tyr361LeufsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.16006643del | CA2670099981 | PROM1 | c.1354del (p.Tyr452ThrfsTer?) c.*1037del (n.*1037del) c.1327del (p.Tyr443ThrfsTer?) c.1412del c.1120del (p.Tyr374ThrfsTer?) c.1147del (p.Tyr383ThrfsTer?) c.1081del (p.Tyr361ThrfsTer?) | gnomAD v4 |
| 4 | g.16006639A>C | CA356435462 | PROM1 | c.1353T>G (p.Phe451Leu) c.*1036T>G (n.*1036T>G) c.1326T>G (p.Phe442Leu) c.1411T>G c.1119T>G (p.Phe373Leu) c.1146T>G (p.Phe382Leu) c.1080T>G (p.Phe360Leu) | |
| 4 | g.16006639A>G | CA438386906 | PROM1 | c.1353T>C (p.Phe451=) c.*1036T>C (n.*1036T>C) c.1326T>C (p.Phe442=) c.1411T>C c.1119T>C (p.Phe373=) c.1146T>C (p.Phe382=) c.1080T>C (p.Phe360=) | |
| 4 | g.16006639A>T | CA356435465 | PROM1 | c.1353T>A (p.Phe451Leu) c.*1036T>A (n.*1036T>A) c.1326T>A (p.Phe442Leu) c.1411T>A c.1119T>A (p.Phe373Leu) c.1146T>A (p.Phe382Leu) c.1080T>A (p.Phe360Leu) | |
| 4 | g.16006640A>C | CA356435468 | PROM1 | c.1352T>G (p.Phe451Cys) c.*1035T>G (n.*1035T>G) c.1325T>G (p.Phe442Cys) c.1410T>G c.1118T>G (p.Phe373Cys) c.1145T>G (p.Phe382Cys) c.1079T>G (p.Phe360Cys) | |
| 4 | g.16006640A>G | CA356435469 | PROM1 | c.1352T>C (p.Phe451Ser) c.*1035T>C (n.*1035T>C) c.1325T>C (p.Phe442Ser) c.1410T>C c.1118T>C (p.Phe373Ser) c.1145T>C (p.Phe382Ser) c.1079T>C (p.Phe360Ser) | |
| 4 | g.16006640A>T | CA356435471 | PROM1 | c.1352T>A (p.Phe451Tyr) c.*1035T>A (n.*1035T>A) c.1325T>A (p.Phe442Tyr) c.1410T>A c.1118T>A (p.Phe373Tyr) c.1145T>A (p.Phe382Tyr) c.1079T>A (p.Phe360Tyr) | |
| 4 | g.16006641A>C | CA356435474 | PROM1 | c.1351T>G (p.Phe451Val) c.*1034T>G (n.*1034T>G) c.1324T>G (p.Phe442Val) c.1409T>G c.1117T>G (p.Phe373Val) c.1144T>G (p.Phe382Val) c.1078T>G (p.Phe360Val) | |
| 4 | g.16006641A>G | CA356435476 | PROM1 | c.1351T>C (p.Phe451Leu) c.*1034T>C (n.*1034T>C) c.1324T>C (p.Phe442Leu) c.1409T>C c.1117T>C (p.Phe373Leu) c.1144T>C (p.Phe382Leu) c.1078T>C (p.Phe360Leu) | |
| 4 | g.16006641A>T | CA356435478 | PROM1 | c.1351T>A (p.Phe451Ile) c.*1034T>A (n.*1034T>A) c.1324T>A (p.Phe442Ile) c.1409T>A c.1117T>A (p.Phe373Ile) c.1144T>A (p.Phe382Ile) c.1078T>A (p.Phe360Ile) | |
| 4 | g.16006642A>C | CA356435480 | PROM1 | c.1350T>G (p.Ile450Met) c.*1033T>G (n.*1033T>G) c.1323T>G (p.Ile441Met) c.1408T>G c.1116T>G (p.Ile372Met) c.1143T>G (p.Ile381Met) c.1077T>G (p.Ile359Met) | |
| 4 | g.16006642A>G | CA438386912 | PROM1 | c.1350T>C (p.Ile450=) c.*1033T>C (n.*1033T>C) c.1323T>C (p.Ile441=) c.1408T>C c.1116T>C (p.Ile372=) c.1143T>C (p.Ile381=) c.1077T>C (p.Ile359=) | |
| 4 | g.16006642A>T | CA438386913 | PROM1 | c.1350T>A (p.Ile450=) c.*1033T>A (n.*1033T>A) c.1323T>A (p.Ile441=) c.1408T>A c.1116T>A (p.Ile372=) c.1143T>A (p.Ile381=) c.1077T>A (p.Ile359=) | |
| 4 | g.16006643A>C | CA356435487 | PROM1 | c.1349T>G (p.Ile450Ser) c.*1032T>G (n.*1032T>G) c.1322T>G (p.Ile441Ser) c.1407T>G c.1115T>G (p.Ile372Ser) c.1142T>G (p.Ile381Ser) c.1076T>G (p.Ile359Ser) | |
| 4 | g.16006643A>G | CA356435485 | PROM1 | c.1349T>C (p.Ile450Thr) c.*1032T>C (n.*1032T>C) c.1322T>C (p.Ile441Thr) c.1407T>C c.1115T>C (p.Ile372Thr) c.1142T>C (p.Ile381Thr) c.1076T>C (p.Ile359Thr) | |
| 4 | g.16006643A>T | CA356435483 | PROM1 | c.1349T>A (p.Ile450Asn) c.*1032T>A (n.*1032T>A) c.1322T>A (p.Ile441Asn) c.1407T>A c.1115T>A (p.Ile372Asn) c.1142T>A (p.Ile381Asn) c.1076T>A (p.Ile359Asn) | |
| 4 | g.16006644T>A | CA356435489 | PROM1 | c.1348A>T (p.Ile450Phe) c.*1031A>T (n.*1031A>T) c.1321A>T (p.Ile441Phe) c.1406A>T c.1114A>T (p.Ile372Phe) c.1141A>T (p.Ile381Phe) c.1075A>T (p.Ile359Phe) | |
| 4 | g.16006644T>C | CA356435491 | PROM1 | c.1348A>G (p.Ile450Val) c.*1031A>G (n.*1031A>G) c.1321A>G (p.Ile441Val) c.1406A>G c.1114A>G (p.Ile372Val) c.1141A>G (p.Ile381Val) c.1075A>G (p.Ile359Val) | |
| 4 | g.16006644T>G | CA356435493 | PROM1 | c.1348A>C (p.Ile450Leu) c.*1031A>C (n.*1031A>C) c.1321A>C (p.Ile441Leu) c.1406A>C c.1114A>C (p.Ile372Leu) c.1141A>C (p.Ile381Leu) c.1075A>C (p.Ile359Leu) | |
| 4 | g.16006645C>A | CA438386917 | PROM1 | c.1347G>T (p.Val449=) c.*1030G>T (n.*1030G>T) c.1320G>T (p.Val440=) c.1405G>T c.1113G>T (p.Val371=) c.1140G>T (p.Val380=) c.1074G>T (p.Val358=) | gnomAD v4 |
| 4 | g.16006645C>G | CA438386918 | PROM1 | c.1347G>C (p.Val449=) c.*1030G>C (n.*1030G>C) c.1320G>C (p.Val440=) c.1405G>C c.1113G>C (p.Val371=) c.1140G>C (p.Val380=) c.1074G>C (p.Val358=) | |
| 4 | g.16006645C>T | CA438386919 | PROM1 | c.1347G>A (p.Val449=) c.*1030G>A (n.*1030G>A) c.1320G>A (p.Val440=) c.1405G>A c.1113G>A (p.Val371=) c.1140G>A (p.Val380=) c.1074G>A (p.Val358=) | |
| 4 | g.16006646A>C | CA356435495 | PROM1 | c.1346T>G (p.Val449Gly) c.*1029T>G (n.*1029T>G) c.1319T>G (p.Val440Gly) c.1404T>G c.1112T>G (p.Val371Gly) c.1139T>G (p.Val380Gly) c.1073T>G (p.Val358Gly) | |
| 4 | g.16006646A>G | CA356435497 | PROM1 | c.1346T>C (p.Val449Ala) c.*1029T>C (n.*1029T>C) c.1319T>C (p.Val440Ala) c.1404T>C c.1112T>C (p.Val371Ala) c.1139T>C (p.Val380Ala) c.1073T>C (p.Val358Ala) | |
| 4 | g.16006646A>T | CA356435499 | PROM1 | c.1346T>A (p.Val449Glu) c.*1029T>A (n.*1029T>A) c.1319T>A (p.Val440Glu) c.1404T>A c.1112T>A (p.Val371Glu) c.1139T>A (p.Val380Glu) c.1073T>A (p.Val358Glu) | |
| 4 | g.16006647C>A | CA356435501 | PROM1 | c.1345G>T (p.Val449Leu) c.*1028G>T (n.*1028G>T) c.1318G>T (p.Val440Leu) c.1403G>T c.1111G>T (p.Val371Leu) c.1138G>T (p.Val380Leu) c.1072G>T (p.Val358Leu) | |
| 4 | g.16006647C= | CA1440916698 | PROM1 | c.1345G= (p.Val449=) c.*1028G= (n.*1028G=) c.1318G= (p.Val440=) c.1403G= c.1111G= (p.Val371=) c.1138G= (p.Val380=) c.1072G= (p.Val358=) | |
| 4 | g.16006647C>G | CA356435503 | PROM1 | c.1345G>C (p.Val449Leu) c.*1028G>C (n.*1028G>C) c.1318G>C (p.Val440Leu) c.1403G>C c.1111G>C (p.Val371Leu) c.1138G>C (p.Val380Leu) c.1072G>C (p.Val358Leu) | |
| 4 | g.16006647C>T | CA239871 | PROM1 | c.1345G>A (p.Val449Met) c.*1028G>A (n.*1028G>A) c.1318G>A (p.Val440Met) c.1403G>A c.1111G>A (p.Val371Met) c.1138G>A (p.Val380Met) c.1072G>A (p.Val358Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006647_16006650delinsCGAT | CA1440916699 | PROM1 | c.1342_1345delinsATCG (p.Ile448=) c.*1025_*1028delinsATCG (n.*1025_*1028delinsATCG) c.1315_1318delinsATCG (p.Ile439=) c.1400_1403delinsATCG c.1108_1111delinsATCG (p.Ile370=) c.1135_1138delinsATCG (p.Ile379=) c.1069_1072delinsATCG (p.Ile357=) | |
| 4 | g.16006648G>A | CA2866795 | PROM1 | c.1344C>T (p.Ile448=) c.*1027C>T (n.*1027C>T) c.1317C>T (p.Ile439=) c.1402C>T c.1110C>T (p.Ile370=) c.1137C>T (p.Ile379=) c.1071C>T (p.Ile357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006648G>C | CA356435507 | PROM1 | c.1344C>G (p.Ile448Met) c.*1027C>G (n.*1027C>G) c.1317C>G (p.Ile439Met) c.1402C>G c.1110C>G (p.Ile370Met) c.1137C>G (p.Ile379Met) c.1071C>G (p.Ile357Met) | gnomAD v4 |
| 4 | g.16006648G= | CA1440916700 | PROM1 | c.1344C= (p.Ile448=) c.*1027C= (n.*1027C=) c.1317C= (p.Ile439=) c.1402C= c.1110C= (p.Ile370=) c.1137C= (p.Ile379=) c.1071C= (p.Ile357=) | |
| 4 | g.16006648G>T | CA92594595 | PROM1 | c.1344C>A (p.Ile448=) c.*1027C>A (n.*1027C>A) c.1317C>A (p.Ile439=) c.1402C>A c.1110C>A (p.Ile370=) c.1137C>A (p.Ile379=) c.1071C>A (p.Ile357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006650_16006652del | CA2866794 | PROM1 | c.1342_1344del (p.Ile448del) c.*1025_*1027del (n.*1025_*1027del) c.1315_1317del (p.Ile439del) c.1400_1402del c.1108_1110del (p.Ile370del) c.1135_1137del (p.Ile379del) c.1069_1071del (p.Ile357del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006649A>C | CA356435512 | PROM1 | c.1343T>G (p.Ile448Ser) c.*1026T>G (n.*1026T>G) c.1316T>G (p.Ile439Ser) c.1401T>G c.1109T>G (p.Ile370Ser) c.1136T>G (p.Ile379Ser) c.1070T>G (p.Ile357Ser) | |
| 4 | g.16006649A>G | CA356435513 | PROM1 | c.1343T>C (p.Ile448Thr) c.*1026T>C (n.*1026T>C) c.1316T>C (p.Ile439Thr) c.1401T>C c.1109T>C (p.Ile370Thr) c.1136T>C (p.Ile379Thr) c.1070T>C (p.Ile357Thr) | |
| 4 | g.16006649A>T | CA356435510 | PROM1 | c.1343T>A (p.Ile448Asn) c.*1026T>A (n.*1026T>A) c.1316T>A (p.Ile439Asn) c.1401T>A c.1109T>A (p.Ile370Asn) c.1136T>A (p.Ile379Asn) c.1070T>A (p.Ile357Asn) | |
| 4 | g.16006650T>A | CA356435516 | PROM1 | c.1342A>T (p.Ile448Phe) c.*1025A>T (n.*1025A>T) c.1315A>T (p.Ile439Phe) c.1400A>T c.1108A>T (p.Ile370Phe) c.1135A>T (p.Ile379Phe) c.1069A>T (p.Ile357Phe) | |
| 4 | g.16006650T>C | CA356435518 | PROM1 | c.1342A>G (p.Ile448Val) c.*1025A>G (n.*1025A>G) c.1315A>G (p.Ile439Val) c.1400A>G c.1108A>G (p.Ile370Val) c.1135A>G (p.Ile379Val) c.1069A>G (p.Ile357Val) | |
| 4 | g.16006650T>G | CA356435520 | PROM1 | c.1342A>C (p.Ile448Leu) c.*1025A>C (n.*1025A>C) c.1315A>C (p.Ile439Leu) c.1400A>C c.1108A>C (p.Ile370Leu) c.1135A>C (p.Ile379Leu) c.1069A>C (p.Ile357Leu) | gnomAD v4 |
| 4 | g.16006651G>A | CA2866796 | PROM1 | c.1341C>T (p.Leu447=) c.*1024C>T (n.*1024C>T) c.1314C>T (p.Leu438=) c.1399C>T c.1107C>T (p.Leu369=) c.1134C>T (p.Leu378=) c.1068C>T (p.Leu356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006651G>C | CA438386926 | PROM1 | c.1341C>G (p.Leu447=) c.*1024C>G (n.*1024C>G) c.1314C>G (p.Leu438=) c.1399C>G c.1107C>G (p.Leu369=) c.1134C>G (p.Leu378=) c.1068C>G (p.Leu356=) | |
| 4 | g.16006651G= | CA1440916701 | PROM1 | c.1341C= (p.Leu447=) c.*1024C= (n.*1024C=) c.1314C= (p.Leu438=) c.1399C= c.1107C= (p.Leu369=) c.1134C= (p.Leu378=) c.1068C= (p.Leu356=) | |
| 4 | g.16006651G>T | CA438386927 | PROM1 | c.1341C>A (p.Leu447=) c.*1024C>A (n.*1024C>A) c.1314C>A (p.Leu438=) c.1399C>A c.1107C>A (p.Leu369=) c.1134C>A (p.Leu378=) c.1068C>A (p.Leu356=) | gnomAD v4 |
| 4 | g.16006652A>C | CA356435524 | PROM1 | c.1340T>G (p.Leu447Arg) c.*1023T>G (n.*1023T>G) c.1313T>G (p.Leu438Arg) c.1398T>G c.1106T>G (p.Leu369Arg) c.1133T>G (p.Leu378Arg) c.1067T>G (p.Leu356Arg) | |
| 4 | g.16006652A>G | CA356435525 | PROM1 | c.1340T>C (p.Leu447Pro) c.*1023T>C (n.*1023T>C) c.1313T>C (p.Leu438Pro) c.1398T>C c.1106T>C (p.Leu369Pro) c.1133T>C (p.Leu378Pro) c.1067T>C (p.Leu356Pro) | gnomAD v4 |
| 4 | g.16006652A>T | CA356435527 | PROM1 | c.1340T>A (p.Leu447His) c.*1023T>A (n.*1023T>A) c.1313T>A (p.Leu438His) c.1398T>A c.1106T>A (p.Leu369His) c.1133T>A (p.Leu378His) c.1067T>A (p.Leu356His) | |
| 4 | g.16006653G>A | CA356435529 | PROM1 | c.1339C>T (p.Leu447Phe) c.*1022C>T (n.*1022C>T) c.1312C>T (p.Leu438Phe) c.1397C>T c.1105C>T (p.Leu369Phe) c.1132C>T (p.Leu378Phe) c.1066C>T (p.Leu356Phe) | gnomAD v4 |
| 4 | g.16006653G>C | CA356435531 | PROM1 | c.1339C>G (p.Leu447Val) c.*1022C>G (n.*1022C>G) c.1312C>G (p.Leu438Val) c.1397C>G c.1105C>G (p.Leu369Val) c.1132C>G (p.Leu378Val) c.1066C>G (p.Leu356Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006653G= | CA1440916702 | PROM1 | c.1339C= (p.Leu447=) c.*1022C= (n.*1022C=) c.1312C= (p.Leu438=) c.1397C= c.1105C= (p.Leu369=) c.1132C= (p.Leu378=) c.1066C= (p.Leu356=) | |
| 4 | g.16006653G>T | CA356435533 | PROM1 | c.1339C>A (p.Leu447Ile) c.*1022C>A (n.*1022C>A) c.1312C>A (p.Leu438Ile) c.1397C>A c.1105C>A (p.Leu369Ile) c.1132C>A (p.Leu378Ile) c.1066C>A (p.Leu356Ile) | |
| 4 | g.16006654G>A | CA438386931 | PROM1 | c.1338C>T (p.Thr446=) c.*1021C>T (n.*1021C>T) c.1311C>T (p.Thr437=) c.1396C>T c.1104C>T (p.Thr368=) c.1131C>T (p.Thr377=) c.1065C>T (p.Thr355=) | |
| 4 | g.16006654G>C | CA438386932 | PROM1 | c.1338C>G (p.Thr446=) c.*1021C>G (n.*1021C>G) c.1311C>G (p.Thr437=) c.1396C>G c.1104C>G (p.Thr368=) c.1131C>G (p.Thr377=) c.1065C>G (p.Thr355=) | gnomAD v4 |
| 4 | g.16006654G>T | CA438386929 | PROM1 | c.1338C>A (p.Thr446=) c.*1021C>A (n.*1021C>A) c.1311C>A (p.Thr437=) c.1396C>A c.1104C>A (p.Thr368=) c.1131C>A (p.Thr377=) c.1065C>A (p.Thr355=) | |
| 4 | g.16006655G>A | CA356435535 | PROM1 | c.1337C>T (p.Thr446Ile) c.*1020C>T (n.*1020C>T) c.1310C>T (p.Thr437Ile) c.1395C>T c.1103C>T (p.Thr368Ile) c.1130C>T (p.Thr377Ile) c.1064C>T (p.Thr355Ile) | dbSNP gnomAD v2 |
| 4 | g.16006655G>C | CA356435537 | PROM1 | c.1337C>G (p.Thr446Ser) c.*1020C>G (n.*1020C>G) c.1310C>G (p.Thr437Ser) c.1395C>G c.1103C>G (p.Thr368Ser) c.1130C>G (p.Thr377Ser) c.1064C>G (p.Thr355Ser) | |
| 4 | g.16006655G= | CA1440916703 | PROM1 | c.1337C= (p.Thr446=) c.*1020C= (n.*1020C=) c.1310C= (p.Thr437=) c.1395C= c.1103C= (p.Thr368=) c.1130C= (p.Thr377=) c.1064C= (p.Thr355=) | |
| 4 | g.16006655G>T | CA356435539 | PROM1 | c.1337C>A (p.Thr446Asn) c.*1020C>A (n.*1020C>A) c.1310C>A (p.Thr437Asn) c.1395C>A c.1103C>A (p.Thr368Asn) c.1130C>A (p.Thr377Asn) c.1064C>A (p.Thr355Asn) | ClinVar dbSNP gnomAD v4 |
| 4 | g.16006656T>A | CA356435545 | PROM1 | c.1336A>T (p.Thr446Ser) c.*1019A>T (n.*1019A>T) c.1309A>T (p.Thr437Ser) c.1394A>T c.1102A>T (p.Thr368Ser) c.1129A>T (p.Thr377Ser) c.1063A>T (p.Thr355Ser) | |
| 4 | g.16006656T>C | CA356435543 | PROM1 | c.1336A>G (p.Thr446Ala) c.*1019A>G (n.*1019A>G) c.1309A>G (p.Thr437Ala) c.1394A>G c.1102A>G (p.Thr368Ala) c.1129A>G (p.Thr377Ala) c.1063A>G (p.Thr355Ala) | |
| 4 | g.16006656T>G | CA356435541 | PROM1 | c.1336A>C (p.Thr446Pro) c.*1019A>C (n.*1019A>C) c.1309A>C (p.Thr437Pro) c.1394A>C c.1102A>C (p.Thr368Pro) c.1129A>C (p.Thr377Pro) c.1063A>C (p.Thr355Pro) | gnomAD v4 |
| 4 | g.16006657C>A | CA438386934 | PROM1 | c.1335G>T (p.Leu445=) c.*1018G>T (n.*1018G>T) c.1308G>T (p.Leu436=) c.1393G>T c.1101G>T (p.Leu367=) c.1128G>T (p.Leu376=) c.1062G>T (p.Leu354=) | |
| 4 | g.16006657C= | CA1440916704 | PROM1 | c.1335G= (p.Leu445=) c.*1018G= (n.*1018G=) c.1308G= (p.Leu436=) c.1393G= c.1101G= (p.Leu367=) c.1128G= (p.Leu376=) c.1062G= (p.Leu354=) | |
| 4 | g.16006657C>G | CA438386936 | PROM1 | c.1335G>C (p.Leu445=) c.*1018G>C (n.*1018G>C) c.1308G>C (p.Leu436=) c.1393G>C c.1101G>C (p.Leu367=) c.1128G>C (p.Leu376=) c.1062G>C (p.Leu354=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006657C>T | CA438386935 | PROM1 | c.1335G>A (p.Leu445=) c.*1018G>A (n.*1018G>A) c.1308G>A (p.Leu436=) c.1393G>A c.1101G>A (p.Leu367=) c.1128G>A (p.Leu376=) c.1062G>A (p.Leu354=) | |
| 4 | g.16006658A>C | CA356435547 | PROM1 | c.1334T>G (p.Leu445Arg) c.*1017T>G (n.*1017T>G) c.1307T>G (p.Leu436Arg) c.1392T>G c.1100T>G (p.Leu367Arg) c.1127T>G (p.Leu376Arg) c.1061T>G (p.Leu354Arg) | |
| 4 | g.16006658A>G | CA356435549 | PROM1 | c.1334T>C (p.Leu445Pro) c.*1017T>C (n.*1017T>C) c.1307T>C (p.Leu436Pro) c.1392T>C c.1100T>C (p.Leu367Pro) c.1127T>C (p.Leu376Pro) c.1061T>C (p.Leu354Pro) | |
| 4 | g.16006658A>T | CA356435551 | PROM1 | c.1334T>A (p.Leu445Gln) c.*1017T>A (n.*1017T>A) c.1307T>A (p.Leu436Gln) c.1392T>A c.1100T>A (p.Leu367Gln) c.1127T>A (p.Leu376Gln) c.1061T>A (p.Leu354Gln) | |
| 4 | g.16006659G>A | CA438386938 | PROM1 | c.1333C>T (p.Leu445=) c.*1016C>T (n.*1016C>T) c.1306C>T (p.Leu436=) c.1391C>T c.1099C>T (p.Leu367=) c.1126C>T (p.Leu376=) c.1060C>T (p.Leu354=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006659G>C | CA356435552 | PROM1 | c.1333C>G (p.Leu445Val) c.*1016C>G (n.*1016C>G) c.1306C>G (p.Leu436Val) c.1391C>G c.1099C>G (p.Leu367Val) c.1126C>G (p.Leu376Val) c.1060C>G (p.Leu354Val) | |
| 4 | g.16006659G= | CA1440916705 | PROM1 | c.1333C= (p.Leu445=) c.*1016C= (n.*1016C=) c.1306C= (p.Leu436=) c.1391C= c.1099C= (p.Leu367=) c.1126C= (p.Leu376=) c.1060C= (p.Leu354=) | |
| 4 | g.16006659G>T | CA356435554 | PROM1 | c.1333C>A (p.Leu445Met) c.*1016C>A (n.*1016C>A) c.1306C>A (p.Leu436Met) c.1391C>A c.1099C>A (p.Leu367Met) c.1126C>A (p.Leu376Met) c.1060C>A (p.Leu354Met) | |
| 4 | g.16006660C>A | CA438386939 | PROM1 | c.1332G>T (p.Leu444=) c.*1015G>T (n.*1015G>T) c.1305G>T (p.Leu435=) c.1390G>T c.1098G>T (p.Leu366=) c.1125G>T (p.Leu375=) c.1059G>T (p.Leu353=) | |
| 4 | g.16006660C= | CA1440916706 | PROM1 | c.1332G= (p.Leu444=) c.*1015G= (n.*1015G=) c.1305G= (p.Leu435=) c.1390G= c.1098G= (p.Leu366=) c.1125G= (p.Leu375=) c.1059G= (p.Leu353=) | |
| 4 | g.16006660C>G | CA438386941 | PROM1 | c.1332G>C (p.Leu444=) c.*1015G>C (n.*1015G>C) c.1305G>C (p.Leu435=) c.1390G>C c.1098G>C (p.Leu366=) c.1125G>C (p.Leu375=) c.1059G>C (p.Leu353=) | |
| 4 | g.16006660C>T | CA92594624 | PROM1 | c.1332G>A (p.Leu444=) c.*1015G>A (n.*1015G>A) c.1305G>A (p.Leu435=) c.1390G>A c.1098G>A (p.Leu366=) c.1125G>A (p.Leu375=) c.1059G>A (p.Leu353=) | dbSNP |
| 4 | g.16006661A>C | CA356435558 | PROM1 | c.1331T>G (p.Leu444Arg) c.*1014T>G (n.*1014T>G) c.1304T>G (p.Leu435Arg) c.1389T>G c.1097T>G (p.Leu366Arg) c.1124T>G (p.Leu375Arg) c.1058T>G (p.Leu353Arg) | |
| 4 | g.16006661A>G | CA356435560 | PROM1 | c.1331T>C (p.Leu444Pro) c.*1014T>C (n.*1014T>C) c.1304T>C (p.Leu435Pro) c.1389T>C c.1097T>C (p.Leu366Pro) c.1124T>C (p.Leu375Pro) c.1058T>C (p.Leu353Pro) | |
| 4 | g.16006661A>T | CA356435561 | PROM1 | c.1331T>A (p.Leu444Gln) c.*1014T>A (n.*1014T>A) c.1304T>A (p.Leu435Gln) c.1389T>A c.1097T>A (p.Leu366Gln) c.1124T>A (p.Leu375Gln) c.1058T>A (p.Leu353Gln) | |
| 4 | g.16006662G>A | CA2866797 | PROM1 | c.1330C>T (p.Leu444=) c.*1013C>T (n.*1013C>T) c.1303C>T (p.Leu435=) c.1388C>T c.1096C>T (p.Leu366=) c.1123C>T (p.Leu375=) c.1057C>T (p.Leu353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006662G>C | CA356435564 | PROM1 | c.1330C>G (p.Leu444Val) c.*1013C>G (n.*1013C>G) c.1303C>G (p.Leu435Val) c.1388C>G c.1096C>G (p.Leu366Val) c.1123C>G (p.Leu375Val) c.1057C>G (p.Leu353Val) | dbSNP |
| 4 | g.16006662G= | CA1440916707 | PROM1 | c.1330C= (p.Leu444=) c.*1013C= (n.*1013C=) c.1303C= (p.Leu435=) c.1388C= c.1096C= (p.Leu366=) c.1123C= (p.Leu375=) c.1057C= (p.Leu353=) | |
| 4 | g.16006662G>T | CA356435566 | PROM1 | c.1330C>A (p.Leu444Met) c.*1013C>A (n.*1013C>A) c.1303C>A (p.Leu435Met) c.1388C>A c.1096C>A (p.Leu366Met) c.1123C>A (p.Leu375Met) c.1057C>A (p.Leu353Met) | |
| 4 | g.16006664_16006673dup | CA2586973709 | PROM1 | c.1321_1330dup (p.Leu444HisfsTer24) c.*1004_*1013dup (n.*1004_*1013dup) c.1294_1303dup (p.Leu435HisfsTer24) c.1379_1388dup c.1087_1096dup (p.Leu366HisfsTer24) c.1114_1123dup (p.Leu375HisfsTer24) c.1048_1057dup (p.Leu353HisfsTer24) | |
| 4 | g.16006663A>C | CA438386943 | PROM1 | c.1329T>G (p.Ser443=) c.*1012T>G (n.*1012T>G) c.1302T>G (p.Ser434=) c.1387T>G c.1095T>G (p.Ser365=) c.1122T>G (p.Ser374=) c.1056T>G (p.Ser352=) | |
| 4 | g.16006663A>G | CA438386944 | PROM1 | c.1329T>C (p.Ser443=) c.*1012T>C (n.*1012T>C) c.1302T>C (p.Ser434=) c.1387T>C c.1095T>C (p.Ser365=) c.1122T>C (p.Ser374=) c.1056T>C (p.Ser352=) | gnomAD v4 |
| 4 | g.16006663A>T | CA438386945 | PROM1 | c.1329T>A (p.Ser443=) c.*1012T>A (n.*1012T>A) c.1302T>A (p.Ser434=) c.1387T>A c.1095T>A (p.Ser365=) c.1122T>A (p.Ser374=) c.1056T>A (p.Ser352=) | |
| 4 | g.16006664G>A | CA356435568 | PROM1 | c.1328C>T (p.Ser443Phe) c.*1011C>T (n.*1011C>T) c.1301C>T (p.Ser434Phe) c.1386C>T c.1094C>T (p.Ser365Phe) c.1121C>T (p.Ser374Phe) c.1055C>T (p.Ser352Phe) | |
| 4 | g.16006664G>C | CA356435572 | PROM1 | c.1328C>G (p.Ser443Cys) c.*1011C>G (n.*1011C>G) c.1301C>G (p.Ser434Cys) c.1386C>G c.1094C>G (p.Ser365Cys) c.1121C>G (p.Ser374Cys) c.1055C>G (p.Ser352Cys) | |
| 4 | g.16006664G>T | CA356435570 | PROM1 | c.1328C>A (p.Ser443Tyr) c.*1011C>A (n.*1011C>A) c.1301C>A (p.Ser434Tyr) c.1386C>A c.1094C>A (p.Ser365Tyr) c.1121C>A (p.Ser374Tyr) c.1055C>A (p.Ser352Tyr) | |
| 4 | g.16006665A= | CA1440916708 | PROM1 | c.1327T= (p.Ser443=) c.*1010T= (n.*1010T=) c.1300T= (p.Ser434=) c.1385T= c.1093T= (p.Ser365=) c.1120T= (p.Ser374=) c.1054T= (p.Ser352=) | |
| 4 | g.16006665A>C | CA356435574 | PROM1 | c.1327T>G (p.Ser443Ala) c.*1010T>G (n.*1010T>G) c.1300T>G (p.Ser434Ala) c.1385T>G c.1093T>G (p.Ser365Ala) c.1120T>G (p.Ser374Ala) c.1054T>G (p.Ser352Ala) | |
| 4 | g.16006665A>G | CA356435578 | PROM1 | c.1327T>C (p.Ser443Pro) c.*1010T>C (n.*1010T>C) c.1300T>C (p.Ser434Pro) c.1385T>C c.1093T>C (p.Ser365Pro) c.1120T>C (p.Ser374Pro) c.1054T>C (p.Ser352Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006665A>T | CA356435576 | PROM1 | c.1327T>A (p.Ser443Thr) c.*1010T>A (n.*1010T>A) c.1300T>A (p.Ser434Thr) c.1385T>A c.1093T>A (p.Ser365Thr) c.1120T>A (p.Ser374Thr) c.1054T>A (p.Ser352Thr) | |
| 4 | g.16006665dup | CA2586973710 | PROM1 | c.1327dup (p.Ser443PhefsTer22) c.*1010dup (n.*1010dup) c.1300dup (p.Ser434PhefsTer22) c.1385dup c.1093dup (p.Ser365PhefsTer22) c.1120dup (p.Ser374PhefsTer22) c.1054dup (p.Ser352PhefsTer22) | |
| 4 | g.16006666G>A | CA438386951 | PROM1 | c.1326C>T (p.Cys442=) c.*1009C>T (n.*1009C>T) c.1299C>T (p.Cys433=) c.1384C>T c.1092C>T (p.Cys364=) c.1119C>T (p.Cys373=) c.1053C>T (p.Cys351=) | |
| 4 | g.16006666G>C | CA356435580 | PROM1 | c.1326C>G (p.Cys442Trp) c.*1009C>G (n.*1009C>G) c.1299C>G (p.Cys433Trp) c.1384C>G c.1092C>G (p.Cys364Trp) c.1119C>G (p.Cys373Trp) c.1053C>G (p.Cys351Trp) | |
| 4 | g.16006666G>T | CA356435582 | PROM1 | c.1326C>A (p.Cys442Ter) c.*1009C>A (n.*1009C>A) c.1299C>A (p.Cys433Ter) c.1384C>A c.1092C>A (p.Cys364Ter) c.1119C>A (p.Cys373Ter) c.1053C>A (p.Cys351Ter) | |
| 4 | g.16006667C>A | CA356435584 | PROM1 | c.1325G>T (p.Cys442Phe) c.*1008G>T (n.*1008G>T) c.1298G>T (p.Cys433Phe) c.1383G>T c.1091G>T (p.Cys364Phe) c.1118G>T (p.Cys373Phe) c.1052G>T (p.Cys351Phe) | |
| 4 | g.16006667C>G | CA356435586 | PROM1 | c.1325G>C (p.Cys442Ser) c.*1008G>C (n.*1008G>C) c.1298G>C (p.Cys433Ser) c.1383G>C c.1091G>C (p.Cys364Ser) c.1118G>C (p.Cys373Ser) c.1052G>C (p.Cys351Ser) | |
| 4 | g.16006667C>T | CA356435588 | PROM1 | c.1325G>A (p.Cys442Tyr) c.*1008G>A (n.*1008G>A) c.1298G>A (p.Cys433Tyr) c.1383G>A c.1091G>A (p.Cys364Tyr) c.1118G>A (p.Cys373Tyr) c.1052G>A (p.Cys351Tyr) | |
| 4 | g.16006668A>C | CA356435590 | PROM1 | c.1324T>G (p.Cys442Gly) c.*1007T>G (n.*1007T>G) c.1297T>G (p.Cys433Gly) c.1382T>G c.1090T>G (p.Cys364Gly) c.1117T>G (p.Cys373Gly) c.1051T>G (p.Cys351Gly) | |
| 4 | g.16006668A>G | CA356435592 | PROM1 | c.1324T>C (p.Cys442Arg) c.*1007T>C (n.*1007T>C) c.1297T>C (p.Cys433Arg) c.1382T>C c.1090T>C (p.Cys364Arg) c.1117T>C (p.Cys373Arg) c.1051T>C (p.Cys351Arg) | |
| 4 | g.16006668A>T | CA356435594 | PROM1 | c.1324T>A (p.Cys442Ser) c.*1007T>A (n.*1007T>A) c.1297T>A (p.Cys433Ser) c.1382T>A c.1090T>A (p.Cys364Ser) c.1117T>A (p.Cys373Ser) c.1051T>A (p.Cys351Ser) | |
| 4 | g.16006669G>A | CA438386954 | PROM1 | c.1323C>T (p.Ile441=) c.*1006C>T (n.*1006C>T) c.1296C>T (p.Ile432=) c.1381C>T c.1089C>T (p.Ile363=) c.1116C>T (p.Ile372=) c.1050C>T (p.Ile350=) | |
| 4 | g.16006669G>C | CA356435596 | PROM1 | c.1323C>G (p.Ile441Met) c.*1006C>G (n.*1006C>G) c.1296C>G (p.Ile432Met) c.1381C>G c.1089C>G (p.Ile363Met) c.1116C>G (p.Ile372Met) c.1050C>G (p.Ile350Met) | |
| 4 | g.16006669G>T | CA438386956 | PROM1 | c.1323C>A (p.Ile441=) c.*1006C>A (n.*1006C>A) c.1296C>A (p.Ile432=) c.1381C>A c.1089C>A (p.Ile363=) c.1116C>A (p.Ile372=) c.1050C>A (p.Ile350=) | |
| 4 | g.16006670A= | CA1440916709 | PROM1 | c.1322T= (p.Ile441=) c.*1005T= (n.*1005T=) c.1295T= (p.Ile432=) c.1380T= c.1088T= (p.Ile363=) c.1115T= (p.Ile372=) c.1049T= (p.Ile350=) | |
| 4 | g.16006670A>C | CA2866798 | PROM1 | c.1322T>G (p.Ile441Ser) c.*1005T>G (n.*1005T>G) c.1295T>G (p.Ile432Ser) c.1380T>G c.1088T>G (p.Ile363Ser) c.1115T>G (p.Ile372Ser) c.1049T>G (p.Ile350Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006670A>G | CA356435601 | PROM1 | c.1322T>C (p.Ile441Thr) c.*1005T>C (n.*1005T>C) c.1295T>C (p.Ile432Thr) c.1380T>C c.1088T>C (p.Ile363Thr) c.1115T>C (p.Ile372Thr) c.1049T>C (p.Ile350Thr) | |
| 4 | g.16006670A>T | CA356435599 | PROM1 | c.1322T>A (p.Ile441Asn) c.*1005T>A (n.*1005T>A) c.1295T>A (p.Ile432Asn) c.1380T>A c.1088T>A (p.Ile363Asn) c.1115T>A (p.Ile372Asn) c.1049T>A (p.Ile350Asn) | COSMIC COSMIC |
| 4 | g.16006671T>A | CA356435603 | PROM1 | c.1321A>T (p.Ile441Phe) c.*1004A>T (n.*1004A>T) c.1294A>T (p.Ile432Phe) c.1379A>T c.1087A>T (p.Ile363Phe) c.1114A>T (p.Ile372Phe) c.1048A>T (p.Ile350Phe) | |
| 4 | g.16006671T>C | CA356435605 | PROM1 | c.1321A>G (p.Ile441Val) c.*1004A>G (n.*1004A>G) c.1294A>G (p.Ile432Val) c.1379A>G c.1087A>G (p.Ile363Val) c.1114A>G (p.Ile372Val) c.1048A>G (p.Ile350Val) | gnomAD v4 |
| 4 | g.16006671T>G | CA356435606 | PROM1 | c.1321A>C (p.Ile441Leu) c.*1004A>C (n.*1004A>C) c.1294A>C (p.Ile432Leu) c.1379A>C c.1087A>C (p.Ile363Leu) c.1114A>C (p.Ile372Leu) c.1048A>C (p.Ile350Leu) | |
| 4 | g.16006672G>A | CA2866799 | PROM1 | c.1320C>T (p.Val440=) c.*1003C>T (n.*1003C>T) c.1293C>T (p.Val431=) c.1378C>T c.1086C>T (p.Val362=) c.1113C>T (p.Val371=) c.1047C>T (p.Val349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006672G>C | CA438386960 | PROM1 | c.1320C>G (p.Val440=) c.*1003C>G (n.*1003C>G) c.1293C>G (p.Val431=) c.1378C>G c.1086C>G (p.Val362=) c.1113C>G (p.Val371=) c.1047C>G (p.Val349=) | |
| 4 | g.16006672G= | CA1440916710 | PROM1 | c.1320C= (p.Val440=) c.*1003C= (n.*1003C=) c.1293C= (p.Val431=) c.1378C= c.1086C= (p.Val362=) c.1113C= (p.Val371=) c.1047C= (p.Val349=) | |
| 4 | g.16006672G>T | CA438386961 | PROM1 | c.1320C>A (p.Val440=) c.*1003C>A (n.*1003C>A) c.1293C>A (p.Val431=) c.1378C>A c.1086C>A (p.Val362=) c.1113C>A (p.Val371=) c.1047C>A (p.Val349=) | |
| 4 | g.16006673A>C | CA356435611 | PROM1 | c.1319T>G (p.Val440Gly) c.*1002T>G (n.*1002T>G) c.1292T>G (p.Val431Gly) c.1377T>G c.1085T>G (p.Val362Gly) c.1112T>G (p.Val371Gly) c.1046T>G (p.Val349Gly) | |
| 4 | g.16006673A>G | CA356435614 | PROM1 | c.1319T>C (p.Val440Ala) c.*1002T>C (n.*1002T>C) c.1292T>C (p.Val431Ala) c.1377T>C c.1085T>C (p.Val362Ala) c.1112T>C (p.Val371Ala) c.1046T>C (p.Val349Ala) | |
| 4 | g.16006673A>T | CA356435613 | PROM1 | c.1319T>A (p.Val440Asp) c.*1002T>A (n.*1002T>A) c.1292T>A (p.Val431Asp) c.1377T>A c.1085T>A (p.Val362Asp) c.1112T>A (p.Val371Asp) c.1046T>A (p.Val349Asp) | |
| 4 | g.16006674C>A | CA356435617 | PROM1 | c.1318G>T (p.Val440Phe) c.*1001G>T (n.*1001G>T) c.1291G>T (p.Val431Phe) c.1376G>T c.1084G>T (p.Val362Phe) c.1111G>T (p.Val371Phe) c.1045G>T (p.Val349Phe) | |
| 4 | g.16006674C= | CA1440916711 | PROM1 | c.1318G= (p.Val440=) c.*1001G= (n.*1001G=) c.1291G= (p.Val431=) c.1376G= c.1084G= (p.Val362=) c.1111G= (p.Val371=) c.1045G= (p.Val349=) | |
| 4 | g.16006674C>G | CA356435619 | PROM1 | c.1318G>C (p.Val440Leu) c.*1001G>C (n.*1001G>C) c.1291G>C (p.Val431Leu) c.1376G>C c.1084G>C (p.Val362Leu) c.1111G>C (p.Val371Leu) c.1045G>C (p.Val349Leu) | |
| 4 | g.16006674C>T | CA2866800 | PROM1 | c.1318G>A (p.Val440Ile) c.*1001G>A (n.*1001G>A) c.1291G>A (p.Val431Ile) c.1376G>A c.1084G>A (p.Val362Ile) c.1111G>A (p.Val371Ile) c.1045G>A (p.Val349Ile) | dbSNP ExAC gnomAD v2 |
| 4 | g.16006675C>A | CA438386963 | PROM1 | c.1317G>T (p.Leu439=) c.*1000G>T (n.*1000G>T) c.1290G>T (p.Leu430=) c.1375G>T c.1083G>T (p.Leu361=) c.1110G>T (p.Leu370=) c.1044G>T (p.Leu348=) | |
| 4 | g.16006675C>G | CA438386964 | PROM1 | c.1317G>C (p.Leu439=) c.*1000G>C (n.*1000G>C) c.1290G>C (p.Leu430=) c.1375G>C c.1083G>C (p.Leu361=) c.1110G>C (p.Leu370=) c.1044G>C (p.Leu348=) | |
| 4 | g.16006675C>T | CA438386966 | PROM1 | c.1317G>A (p.Leu439=) c.*1000G>A (n.*1000G>A) c.1290G>A (p.Leu430=) c.1375G>A c.1083G>A (p.Leu361=) c.1110G>A (p.Leu370=) c.1044G>A (p.Leu348=) | |
| 4 | g.16006676A>C | CA356435622 | PROM1 | c.1316T>G (p.Leu439Arg) c.*999T>G (n.*999T>G) c.1289T>G (p.Leu430Arg) c.1374T>G c.1082T>G (p.Leu361Arg) c.1109T>G (p.Leu370Arg) c.1043T>G (p.Leu348Arg) | |
| 4 | g.16006676A>G | CA356435624 | PROM1 | c.1316T>C (p.Leu439Pro) c.*999T>C (n.*999T>C) c.1289T>C (p.Leu430Pro) c.1374T>C c.1082T>C (p.Leu361Pro) c.1109T>C (p.Leu370Pro) c.1043T>C (p.Leu348Pro) | gnomAD v4 |
| 4 | g.16006676A>T | CA356435625 | PROM1 | c.1316T>A (p.Leu439Gln) c.*999T>A (n.*999T>A) c.1289T>A (p.Leu430Gln) c.1374T>A c.1082T>A (p.Leu361Gln) c.1109T>A (p.Leu370Gln) c.1043T>A (p.Leu348Gln) | |
| 4 | g.16006677G>A | CA438386969 | PROM1 | c.1315C>T (p.Leu439=) c.*998C>T (n.*998C>T) c.1288C>T (p.Leu430=) c.1373C>T c.1081C>T (p.Leu361=) c.1108C>T (p.Leu370=) c.1042C>T (p.Leu348=) | ClinVar |
| 4 | g.16006677G>C | CA356435627 | PROM1 | c.1315C>G (p.Leu439Val) c.*998C>G (n.*998C>G) c.1288C>G (p.Leu430Val) c.1373C>G c.1081C>G (p.Leu361Val) c.1108C>G (p.Leu370Val) c.1042C>G (p.Leu348Val) | |
| 4 | g.16006677G>T | CA356435629 | PROM1 | c.1315C>A (p.Leu439Met) c.*998C>A (n.*998C>A) c.1288C>A (p.Leu430Met) c.1373C>A c.1081C>A (p.Leu361Met) c.1108C>A (p.Leu370Met) c.1042C>A (p.Leu348Met) | |
| 4 | g.16006678G>A | CA438386970 | PROM1 | c.1314C>T (p.Gly438=) c.*997C>T (n.*997C>T) c.1287C>T (p.Gly429=) c.1372C>T c.1080C>T (p.Gly360=) c.1107C>T (p.Gly369=) c.1041C>T (p.Gly347=) | dbSNP gnomAD v4 |
| 4 | g.16006678G>C | CA438386971 | PROM1 | c.1314C>G (p.Gly438=) c.*997C>G (n.*997C>G) c.1287C>G (p.Gly429=) c.1372C>G c.1080C>G (p.Gly360=) c.1107C>G (p.Gly369=) c.1041C>G (p.Gly347=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006678G= | CA1440916712 | PROM1 | c.1314C= (p.Gly438=) c.*997C= (n.*997C=) c.1287C= (p.Gly429=) c.1372C= c.1080C= (p.Gly360=) c.1107C= (p.Gly369=) c.1041C= (p.Gly347=) | |
| 4 | g.16006678G>T | CA438386973 | PROM1 | c.1314C>A (p.Gly438=) c.*997C>A (n.*997C>A) c.1287C>A (p.Gly429=) c.1372C>A c.1080C>A (p.Gly360=) c.1107C>A (p.Gly369=) c.1041C>A (p.Gly347=) | |
| 4 | g.16006679C>A | CA356435631 | PROM1 | c.1313G>T (p.Gly438Val) c.*996G>T (n.*996G>T) c.1286G>T (p.Gly429Val) c.1371G>T c.1079G>T (p.Gly360Val) c.1106G>T (p.Gly369Val) c.1040G>T (p.Gly347Val) | |
| 4 | g.16006679C>G | CA356435633 | PROM1 | c.1313G>C (p.Gly438Ala) c.*996G>C (n.*996G>C) c.1286G>C (p.Gly429Ala) c.1371G>C c.1079G>C (p.Gly360Ala) c.1106G>C (p.Gly369Ala) c.1040G>C (p.Gly347Ala) | |
| 4 | g.16006679C>T | CA356435635 | PROM1 | c.1313G>A (p.Gly438Asp) c.*996G>A (n.*996G>A) c.1286G>A (p.Gly429Asp) c.1371G>A c.1079G>A (p.Gly360Asp) c.1106G>A (p.Gly369Asp) c.1040G>A (p.Gly347Asp) | gnomAD v4 |
| 4 | g.16006680C>A | CA356435636 | PROM1 | c.1312G>T (p.Gly438Cys) c.*995G>T (n.*995G>T) c.1285G>T (p.Gly429Cys) c.1370G>T c.1078G>T (p.Gly360Cys) c.1105G>T (p.Gly369Cys) c.1039G>T (p.Gly347Cys) | |
| 4 | g.16006680C= | CA1440916713 | PROM1 | c.1312G= (p.Gly438=) c.*995G= (n.*995G=) c.1285G= (p.Gly429=) c.1370G= c.1078G= (p.Gly360=) c.1105G= (p.Gly369=) c.1039G= (p.Gly347=) | |
| 4 | g.16006680C>G | CA356435640 | PROM1 | c.1312G>C (p.Gly438Arg) c.*995G>C (n.*995G>C) c.1285G>C (p.Gly429Arg) c.1370G>C c.1078G>C (p.Gly360Arg) c.1105G>C (p.Gly369Arg) c.1039G>C (p.Gly347Arg) | |
| 4 | g.16006680C>T | CA356435638 | PROM1 | c.1312G>A (p.Gly438Ser) c.*995G>A (n.*995G>A) c.1285G>A (p.Gly429Ser) c.1370G>A c.1078G>A (p.Gly360Ser) c.1105G>A (p.Gly369Ser) c.1039G>A (p.Gly347Ser) | dbSNP gnomAD v4 |
| 4 | g.16006681A>C | CA438386977 | PROM1 | c.1311T>G (p.Gly437=) c.*994T>G (n.*994T>G) c.1284T>G (p.Gly428=) c.1369T>G c.1077T>G (p.Gly359=) c.1104T>G (p.Gly368=) c.1038T>G (p.Gly346=) | |
| 4 | g.16006681A>G | CA438386978 | PROM1 | c.1311T>C (p.Gly437=) c.*994T>C (n.*994T>C) c.1284T>C (p.Gly428=) c.1369T>C c.1077T>C (p.Gly359=) c.1104T>C (p.Gly368=) c.1038T>C (p.Gly346=) | |
| 4 | g.16006681A>T | CA438386979 | PROM1 | c.1311T>A (p.Gly437=) c.*994T>A (n.*994T>A) c.1284T>A (p.Gly428=) c.1369T>A c.1077T>A (p.Gly359=) c.1104T>A (p.Gly368=) c.1038T>A (p.Gly346=) | |
| 4 | g.16006682C>A | CA356435642 | PROM1 | c.1310G>T (p.Gly437Val) c.*993G>T (n.*993G>T) c.1283G>T (p.Gly428Val) c.1368G>T c.1076G>T (p.Gly359Val) c.1103G>T (p.Gly368Val) c.1037G>T (p.Gly346Val) | |
| 4 | g.16006682C>G | CA356435644 | PROM1 | c.1310G>C (p.Gly437Ala) c.*993G>C (n.*993G>C) c.1283G>C (p.Gly428Ala) c.1368G>C c.1076G>C (p.Gly359Ala) c.1103G>C (p.Gly368Ala) c.1037G>C (p.Gly346Ala) | |
| 4 | g.16006682C>T | CA356435646 | PROM1 | c.1310G>A (p.Gly437Asp) c.*993G>A (n.*993G>A) c.1283G>A (p.Gly428Asp) c.1368G>A c.1076G>A (p.Gly359Asp) c.1103G>A (p.Gly368Asp) c.1037G>A (p.Gly346Asp) | |
| 4 | g.16006683C>A | CA356435649 | PROM1 | c.1309G>T (p.Gly437Cys) c.*992G>T (n.*992G>T) c.1282G>T (p.Gly428Cys) c.1367G>T c.1075G>T (p.Gly359Cys) c.1102G>T (p.Gly368Cys) c.1036G>T (p.Gly346Cys) | gnomAD v4 |
| 4 | g.16006683C= | CA1440916714 | PROM1 | c.1309G= (p.Gly437=) c.*992G= (n.*992G=) c.1282G= (p.Gly428=) c.1367G= c.1075G= (p.Gly359=) c.1102G= (p.Gly368=) c.1036G= (p.Gly346=) | |
| 4 | g.16006683C>G | CA356435650 | PROM1 | c.1309G>C (p.Gly437Arg) c.*992G>C (n.*992G>C) c.1282G>C (p.Gly428Arg) c.1367G>C c.1075G>C (p.Gly359Arg) c.1102G>C (p.Gly368Arg) c.1036G>C (p.Gly346Arg) | |
| 4 | g.16006683C>T | CA356435651 | PROM1 | c.1309G>A (p.Gly437Ser) c.*992G>A (n.*992G>A) c.1282G>A (p.Gly428Ser) c.1367G>A c.1075G>A (p.Gly359Ser) c.1102G>A (p.Gly368Ser) c.1036G>A (p.Gly346Ser) | ClinVar dbSNP gnomAD v4 |
| 4 | g.16006684C>A | CA438386982 | PROM1 | c.1308G>T (p.Leu436=) c.*991G>T (n.*991G>T) c.1281G>T (p.Leu427=) c.1366G>T c.1074G>T (p.Leu358=) c.1101G>T (p.Leu367=) c.1035G>T (p.Leu345=) | gnomAD v4 |
| 4 | g.16006684C>G | CA438386984 | PROM1 | c.1308G>C (p.Leu436=) c.*991G>C (n.*991G>C) c.1281G>C (p.Leu427=) c.1366G>C c.1074G>C (p.Leu358=) c.1101G>C (p.Leu367=) c.1035G>C (p.Leu345=) | COSMIC COSMIC |
| 4 | g.16006684C>T | CA438386986 | PROM1 | c.1308G>A (p.Leu436=) c.*991G>A (n.*991G>A) c.1281G>A (p.Leu427=) c.1366G>A c.1074G>A (p.Leu358=) c.1101G>A (p.Leu367=) c.1035G>A (p.Leu345=) | gnomAD v4 |
| 4 | g.16006685A= | CA1440916715 | PROM1 | c.1307T= (p.Leu436=) c.*990T= (n.*990T=) c.1280T= (p.Leu427=) c.1365T= c.1073T= (p.Leu358=) c.1100T= (p.Leu367=) c.1034T= (p.Leu345=) | |
| 4 | g.16006685A>C | CA356435653 | PROM1 | c.1307T>G (p.Leu436Arg) c.*990T>G (n.*990T>G) c.1280T>G (p.Leu427Arg) c.1365T>G c.1073T>G (p.Leu358Arg) c.1100T>G (p.Leu367Arg) c.1034T>G (p.Leu345Arg) | |
| 4 | g.16006685A>G | CA356435655 | PROM1 | c.1307T>C (p.Leu436Pro) c.*990T>C (n.*990T>C) c.1280T>C (p.Leu427Pro) c.1365T>C c.1073T>C (p.Leu358Pro) c.1100T>C (p.Leu367Pro) c.1034T>C (p.Leu345Pro) | |
| 4 | g.16006685A>T | CA356435657 | PROM1 | c.1307T>A (p.Leu436Gln) c.*990T>A (n.*990T>A) c.1280T>A (p.Leu427Gln) c.1365T>A c.1073T>A (p.Leu358Gln) c.1100T>A (p.Leu367Gln) c.1034T>A (p.Leu345Gln) | dbSNP gnomAD v4 |
| 4 | g.16006686G>A | CA92594667 | PROM1 | c.1306C>T (p.Leu436=) c.*989C>T (n.*989C>T) c.1279C>T (p.Leu427=) c.1364C>T c.1072C>T (p.Leu358=) c.1099C>T (p.Leu367=) c.1033C>T (p.Leu345=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006686G>C | CA356435658 | PROM1 | c.1306C>G (p.Leu436Val) c.*989C>G (n.*989C>G) c.1279C>G (p.Leu427Val) c.1364C>G c.1072C>G (p.Leu358Val) c.1099C>G (p.Leu367Val) c.1033C>G (p.Leu345Val) | gnomAD v4 |
| 4 | g.16006686G= | CA1440916716 | PROM1 | c.1306C= (p.Leu436=) c.*989C= (n.*989C=) c.1279C= (p.Leu427=) c.1364C= c.1072C= (p.Leu358=) c.1099C= (p.Leu367=) c.1033C= (p.Leu345=) | |
| 4 | g.16006686G>T | CA356435660 | PROM1 | c.1306C>A (p.Leu436Met) c.*989C>A (n.*989C>A) c.1279C>A (p.Leu427Met) c.1364C>A c.1072C>A (p.Leu358Met) c.1099C>A (p.Leu367Met) c.1033C>A (p.Leu345Met) | |
| 4 | g.16006687C>A | CA356435666 | PROM1 | c.1305G>T (p.Trp435Cys) c.*988G>T (n.*988G>T) c.1278G>T (p.Trp426Cys) c.1363G>T c.1071G>T (p.Trp357Cys) c.1098G>T (p.Trp366Cys) c.1032G>T (p.Trp344Cys) | gnomAD v4 |
| 4 | g.16006687C= | CA1440916717 | PROM1 | c.1305G= (p.Trp435=) c.*988G= (n.*988G=) c.1278G= (p.Trp426=) c.1363G= c.1071G= (p.Trp357=) c.1098G= (p.Trp366=) c.1032G= (p.Trp344=) | |
| 4 | g.16006687C>G | CA356435664 | PROM1 | c.1305G>C (p.Trp435Cys) c.*988G>C (n.*988G>C) c.1278G>C (p.Trp426Cys) c.1363G>C c.1071G>C (p.Trp357Cys) c.1098G>C (p.Trp366Cys) c.1032G>C (p.Trp344Cys) | dbSNP |
| 4 | g.16006687C>T | CA356435662 | PROM1 | c.1305G>A (p.Trp435Ter) c.*988G>A (n.*988G>A) c.1278G>A (p.Trp426Ter) c.1363G>A c.1071G>A (p.Trp357Ter) c.1098G>A (p.Trp366Ter) c.1032G>A (p.Trp344Ter) | |
| 4 | g.16006688del | CA2670099988 | PROM1 | c.1305del (p.Trp435CysfsTer11) c.*988del (n.*988del) c.1278del (p.Trp426CysfsTer11) c.1363del c.1071del (p.Trp357CysfsTer11) c.1098del (p.Trp366CysfsTer11) c.1032del (p.Trp344CysfsTer11) | gnomAD v4 |
| 4 | g.16006688C>A | CA356435668 | PROM1 | c.1304G>T (p.Trp435Leu) c.*987G>T (n.*987G>T) c.1277G>T (p.Trp426Leu) c.1362G>T c.1070G>T (p.Trp357Leu) c.1097G>T (p.Trp366Leu) c.1031G>T (p.Trp344Leu) | |
| 4 | g.16006688C>G | CA356435670 | PROM1 | c.1304G>C (p.Trp435Ser) c.*987G>C (n.*987G>C) c.1277G>C (p.Trp426Ser) c.1362G>C c.1070G>C (p.Trp357Ser) c.1097G>C (p.Trp366Ser) c.1031G>C (p.Trp344Ser) | |
| 4 | g.16006688C>T | CA356435672 | PROM1 | c.1304G>A (p.Trp435Ter) c.*987G>A (n.*987G>A) c.1277G>A (p.Trp426Ter) c.1362G>A c.1070G>A (p.Trp357Ter) c.1097G>A (p.Trp366Ter) c.1031G>A (p.Trp344Ter) | gnomAD v4 |
| 4 | g.16006689A>C | CA356435674 | PROM1 | c.1303T>G (p.Trp435Gly) c.*986T>G (n.*986T>G) c.1276T>G (p.Trp426Gly) c.1361T>G c.1069T>G (p.Trp357Gly) c.1096T>G (p.Trp366Gly) c.1030T>G (p.Trp344Gly) | |
| 4 | g.16006689A>G | CA356435676 | PROM1 | c.1303T>C (p.Trp435Arg) c.*986T>C (n.*986T>C) c.1276T>C (p.Trp426Arg) c.1361T>C c.1069T>C (p.Trp357Arg) c.1096T>C (p.Trp366Arg) c.1030T>C (p.Trp344Arg) | |
| 4 | g.16006689A>T | CA356435677 | PROM1 | c.1303T>A (p.Trp435Arg) c.*986T>A (n.*986T>A) c.1276T>A (p.Trp426Arg) c.1361T>A c.1069T>A (p.Trp357Arg) c.1096T>A (p.Trp366Arg) c.1030T>A (p.Trp344Arg) | |
| 4 | g.16006690C>A | CA356435680 | PROM1 | c.1302G>T (p.Trp434Cys) c.*985G>T (n.*985G>T) c.1275G>T (p.Trp425Cys) c.1360G>T c.1068G>T (p.Trp356Cys) c.1095G>T (p.Trp365Cys) c.1029G>T (p.Trp343Cys) | |
| 4 | g.16006690C= | CA1440916718 | PROM1 | c.1302G= (p.Trp434=) c.*985G= (n.*985G=) c.1275G= (p.Trp425=) c.1360G= c.1068G= (p.Trp356=) c.1095G= (p.Trp365=) c.1029G= (p.Trp343=) | |
| 4 | g.16006690C>G | CA356435682 | PROM1 | c.1302G>C (p.Trp434Cys) c.*985G>C (n.*985G>C) c.1275G>C (p.Trp425Cys) c.1360G>C c.1068G>C (p.Trp356Cys) c.1095G>C (p.Trp365Cys) c.1029G>C (p.Trp343Cys) | |
| 4 | g.16006690C>T | CA356435684 | PROM1 | c.1302G>A (p.Trp434Ter) c.*985G>A (n.*985G>A) c.1275G>A (p.Trp425Ter) c.1360G>A c.1068G>A (p.Trp356Ter) c.1095G>A (p.Trp365Ter) c.1029G>A (p.Trp343Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006691C>A | CA356435686 | PROM1 | c.1302-1G>T (n.1302-1G>T) c.*985-1G>T (n.*985-1G>T) c.1275-1G>T (n.1275-1G>T) c.1360-1G>T c.1068-1G>T (n.1068-1G>T) c.1095-1G>T (n.1095-1G>T) c.1029-1G>T (n.1029-1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006691C= | CA1440916719 | PROM1 | c.1302-1G= (n.1302-1G=) c.*985-1G= (n.*985-1G=) c.1275-1G= (n.1275-1G=) c.1360-1G= c.1068-1G= (n.1068-1G=) c.1095-1G= (n.1095-1G=) c.1029-1G= (n.1029-1G=) | |
| 4 | g.16006691C>G | CA356435688 | PROM1 | c.1302-1G>C (n.1302-1G>C) c.*985-1G>C (n.*985-1G>C) c.1275-1G>C (n.1275-1G>C) c.1360-1G>C c.1068-1G>C (n.1068-1G>C) c.1095-1G>C (n.1095-1G>C) c.1029-1G>C (n.1029-1G>C) | |
| 4 | g.16006691C>T | CA356435690 | PROM1 | c.1302-1G>A (n.1302-1G>A) c.*985-1G>A (n.*985-1G>A) c.1275-1G>A (n.1275-1G>A) c.1360-1G>A c.1068-1G>A (n.1068-1G>A) c.1095-1G>A (n.1095-1G>A) c.1029-1G>A (n.1029-1G>A) | |
| 4 | g.16006691_16006692insAGTATGAATCATACTCTTCCAATGTAGGTAAATTTCTG | CA2705310658 | PROM1 | c.1302-2_1302-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT (n.1302-2_1302-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT) c.*985-2_*985-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT (n.*985-2_*985-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT) c.1275-2_1275-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT (n.1275-2_1275-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT) c.1360-2_1360-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT c.1068-2_1068-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT (n.1068-2_1068-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT) c.1095-2_1095-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT (n.1095-2_1095-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT) c.1029-2_1029-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT (n.1029-2_1029-1insCAGAAATTTACCTACATTGGAAGAGTATGATTCATACT) | dbSNP |
| 4 | g.16006692T>A | CA356435695 | PROM1 | c.1302-2A>T (n.1302-2A>T) c.*985-2A>T (n.*985-2A>T) c.1275-2A>T (n.1275-2A>T) c.1360-2A>T c.1068-2A>T (n.1068-2A>T) c.1095-2A>T (n.1095-2A>T) c.1029-2A>T (n.1029-2A>T) | |
| 4 | g.16006692T>C | CA356435697 | PROM1 | c.1302-2A>G (n.1302-2A>G) c.*985-2A>G (n.*985-2A>G) c.1275-2A>G (n.1275-2A>G) c.1360-2A>G c.1068-2A>G (n.1068-2A>G) c.1095-2A>G (n.1095-2A>G) c.1029-2A>G (n.1029-2A>G) | gnomAD v4 |
| 4 | g.16006692T>G | CA356435692 | PROM1 | c.1302-2A>C (n.1302-2A>C) c.*985-2A>C (n.*985-2A>C) c.1275-2A>C (n.1275-2A>C) c.1360-2A>C c.1068-2A>C (n.1068-2A>C) c.1095-2A>C (n.1095-2A>C) c.1029-2A>C (n.1029-2A>C) | |
| 4 | g.16006693G>A | CA2866801 | PROM1 | c.1302-3C>T (n.1302-3C>T) c.*985-3C>T (n.*985-3C>T) c.1275-3C>T (n.1275-3C>T) c.1360-3C>T c.1068-3C>T (n.1068-3C>T) c.1095-3C>T (n.1095-3C>T) c.1029-3C>T (n.1029-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006693G= | CA1440916720 | PROM1 | c.1302-3C= (n.1302-3C=) c.*985-3C= (n.*985-3C=) c.1275-3C= (n.1275-3C=) c.1360-3C= c.1068-3C= (n.1068-3C=) c.1095-3C= (n.1095-3C=) c.1029-3C= (n.1029-3C=) | |
| 4 | g.16006694G>A | CA2499217144 | PROM1 | c.1302-4C>T (n.1302-4C>T) c.*985-4C>T (n.*985-4C>T) c.1275-4C>T (n.1275-4C>T) c.1360-4C>T c.1068-4C>T (n.1068-4C>T) c.1095-4C>T (n.1095-4C>T) c.1029-4C>T (n.1029-4C>T) | ClinVar dbSNP |
| 4 | g.16006696G>A | CA92594676 | PROM1 | c.1302-6C>T (n.1302-6C>T) c.*985-6C>T (n.*985-6C>T) c.1275-6C>T (n.1275-6C>T) c.1360-6C>T c.1068-6C>T (n.1068-6C>T) c.1095-6C>T (n.1095-6C>T) c.1029-6C>T (n.1029-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006696G= | CA1440916721 | PROM1 | c.1302-6C= (n.1302-6C=) c.*985-6C= (n.*985-6C=) c.1275-6C= (n.1275-6C=) c.1360-6C= c.1068-6C= (n.1068-6C=) c.1095-6C= (n.1095-6C=) c.1029-6C= (n.1029-6C=) | |
| 4 | g.16006696G>T | CA2670099993 | PROM1 | c.1302-6C>A (n.1302-6C>A) c.*985-6C>A (n.*985-6C>A) c.1275-6C>A (n.1275-6C>A) c.1360-6C>A c.1068-6C>A (n.1068-6C>A) c.1095-6C>A (n.1095-6C>A) c.1029-6C>A (n.1029-6C>A) | gnomAD v4 |
| 4 | g.16006698G>A | CA789850678 | PROM1 | c.1302-8C>T (n.1302-8C>T) c.*985-8C>T (n.*985-8C>T) c.1275-8C>T (n.1275-8C>T) c.1360-8C>T c.1068-8C>T (n.1068-8C>T) c.1095-8C>T (n.1095-8C>T) c.1029-8C>T (n.1029-8C>T) | dbSNP gnomAD v4 |
| 4 | g.16006698G= | CA1440916722 | PROM1 | c.1302-8C= (n.1302-8C=) c.*985-8C= (n.*985-8C=) c.1275-8C= (n.1275-8C=) c.1360-8C= c.1068-8C= (n.1068-8C=) c.1095-8C= (n.1095-8C=) c.1029-8C= (n.1029-8C=) | |
| 4 | g.16006702_16006705del | CA2760553155 | PROM1 | c.1302-12_1302-9del (n.1302-12_1302-9del) c.*985-12_*985-9del (n.*985-12_*985-9del) c.1275-12_1275-9del (n.1275-12_1275-9del) c.1360-12_1360-9del c.1068-12_1068-9del (n.1068-12_1068-9del) c.1095-12_1095-9del (n.1095-12_1095-9del) c.1029-12_1029-9del (n.1029-12_1029-9del) | |
| 4 | g.16006700C>A | CA1440916724 | PROM1 | c.1302-10G>T (n.1302-10G>T) c.*985-10G>T (n.*985-10G>T) c.1275-10G>T (n.1275-10G>T) c.1360-10G>T c.1068-10G>T (n.1068-10G>T) c.1095-10G>T (n.1095-10G>T) c.1029-10G>T (n.1029-10G>T) | dbSNP |
| 4 | g.16006700C= | CA1440916723 | PROM1 | c.1302-10G= (n.1302-10G=) c.*985-10G= (n.*985-10G=) c.1275-10G= (n.1275-10G=) c.1360-10G= c.1068-10G= (n.1068-10G=) c.1095-10G= (n.1095-10G=) c.1029-10G= (n.1029-10G=) | |
| 4 | g.16006700C>G | CA2670099994 | PROM1 | c.1302-10G>C (n.1302-10G>C) c.*985-10G>C (n.*985-10G>C) c.1275-10G>C (n.1275-10G>C) c.1360-10G>C c.1068-10G>C (n.1068-10G>C) c.1095-10G>C (n.1095-10G>C) c.1029-10G>C (n.1029-10G>C) | gnomAD v4 |
| 4 | g.16006700C>T | CA92594682 | PROM1 | c.1302-10G>A (n.1302-10G>A) c.*985-10G>A (n.*985-10G>A) c.1275-10G>A (n.1275-10G>A) c.1360-10G>A c.1068-10G>A (n.1068-10G>A) c.1095-10G>A (n.1095-10G>A) c.1029-10G>A (n.1029-10G>A) | dbSNP gnomAD v4 |
| 4 | g.16006701A>G | CA2670099998 | PROM1 | c.1302-11T>C (n.1302-11T>C) c.*985-11T>C (n.*985-11T>C) c.1275-11T>C (n.1275-11T>C) c.1360-11T>C c.1068-11T>C (n.1068-11T>C) c.1095-11T>C (n.1095-11T>C) c.1029-11T>C (n.1029-11T>C) | gnomAD v4 |
| 4 | g.16006702A= | CA1440916725 | PROM1 | c.1302-12T= (n.1302-12T=) c.*985-12T= (n.*985-12T=) c.1275-12T= (n.1275-12T=) c.1360-12T= c.1068-12T= (n.1068-12T=) c.1095-12T= (n.1095-12T=) c.1029-12T= (n.1029-12T=) | |
| 4 | g.16006702A>G | CA1440916726 | PROM1 | c.1302-12T>C (n.1302-12T>C) c.*985-12T>C (n.*985-12T>C) c.1275-12T>C (n.1275-12T>C) c.1360-12T>C c.1068-12T>C (n.1068-12T>C) c.1095-12T>C (n.1095-12T>C) c.1029-12T>C (n.1029-12T>C) | dbSNP |
| 4 | g.16006704C>A | CA2524614727 | PROM1 | c.1302-14G>T (n.1302-14G>T) c.*985-14G>T (n.*985-14G>T) c.1275-14G>T (n.1275-14G>T) c.1360-14G>T c.1068-14G>T (n.1068-14G>T) c.1095-14G>T (n.1095-14G>T) c.1029-14G>T (n.1029-14G>T) | |
| 4 | g.16006705A>C | CA2670100001 | PROM1 | c.1302-15T>G (n.1302-15T>G) c.*985-15T>G (n.*985-15T>G) c.1275-15T>G (n.1275-15T>G) c.1360-15T>G c.1068-15T>G (n.1068-15T>G) c.1095-15T>G (n.1095-15T>G) c.1029-15T>G (n.1029-15T>G) | gnomAD v4 |
| 4 | g.16006706C= | CA1440916727 | PROM1 | c.1302-16G= (n.1302-16G=) c.*985-16G= (n.*985-16G=) c.1275-16G= (n.1275-16G=) c.1360-16G= c.1068-16G= (n.1068-16G=) c.1095-16G= (n.1095-16G=) c.1029-16G= (n.1029-16G=) | |
| 4 | g.16006706C>T | CA550187678 | PROM1 | c.1302-16G>A (n.1302-16G>A) c.*985-16G>A (n.*985-16G>A) c.1275-16G>A (n.1275-16G>A) c.1360-16G>A c.1068-16G>A (n.1068-16G>A) c.1095-16G>A (n.1095-16G>A) c.1029-16G>A (n.1029-16G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006708G>A | CA2670100002 | PROM1 | c.1302-18C>T (n.1302-18C>T) c.*985-18C>T (n.*985-18C>T) c.1275-18C>T (n.1275-18C>T) c.1360-18C>T c.1068-18C>T (n.1068-18C>T) c.1095-18C>T (n.1095-18C>T) c.1029-18C>T (n.1029-18C>T) | gnomAD v4 |
| 4 | g.16006708G= | CA1440916728 | PROM1 | c.1302-18C= (n.1302-18C=) c.*985-18C= (n.*985-18C=) c.1275-18C= (n.1275-18C=) c.1360-18C= c.1068-18C= (n.1068-18C=) c.1095-18C= (n.1095-18C=) c.1029-18C= (n.1029-18C=) | |
| 4 | g.16006708G>T | CA789850687 | PROM1 | c.1302-18C>A (n.1302-18C>A) c.*985-18C>A (n.*985-18C>A) c.1275-18C>A (n.1275-18C>A) c.1360-18C>A c.1068-18C>A (n.1068-18C>A) c.1095-18C>A (n.1095-18C>A) c.1029-18C>A (n.1029-18C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006709T>C | CA2670100005 | PROM1 | c.1302-19A>G (n.1302-19A>G) c.*985-19A>G (n.*985-19A>G) c.1275-19A>G (n.1275-19A>G) c.1360-19A>G c.1068-19A>G (n.1068-19A>G) c.1095-19A>G (n.1095-19A>G) c.1029-19A>G (n.1029-19A>G) | gnomAD v4 |
| 4 | g.16006712T>C | CA2866802 | PROM1 | c.1302-22A>G (n.1302-22A>G) c.*985-22A>G (n.*985-22A>G) c.1275-22A>G (n.1275-22A>G) c.1360-22A>G c.1068-22A>G (n.1068-22A>G) c.1095-22A>G (n.1095-22A>G) c.1029-22A>G (n.1029-22A>G) | dbSNP ExAC gnomAD v4 |
| 4 | g.16006712T= | CA1440916729 | PROM1 | c.1302-22A= (n.1302-22A=) c.*985-22A= (n.*985-22A=) c.1275-22A= (n.1275-22A=) c.1360-22A= c.1068-22A= (n.1068-22A=) c.1095-22A= (n.1095-22A=) c.1029-22A= (n.1029-22A=) | |
| 4 | g.16006713A= | CA1440916730 | PROM1 | c.1302-23T= (n.1302-23T=) c.*985-23T= (n.*985-23T=) c.1275-23T= (n.1275-23T=) c.1360-23T= c.1068-23T= (n.1068-23T=) c.1095-23T= (n.1095-23T=) c.1029-23T= (n.1029-23T=) | |
| 4 | g.16006713A>G | CA2866803 | PROM1 | c.1302-23T>C (n.1302-23T>C) c.*985-23T>C (n.*985-23T>C) c.1275-23T>C (n.1275-23T>C) c.1360-23T>C c.1068-23T>C (n.1068-23T>C) c.1095-23T>C (n.1095-23T>C) c.1029-23T>C (n.1029-23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006714G= | CA1440916731 | PROM1 | c.1302-24C= (n.1302-24C=) c.*985-24C= (n.*985-24C=) c.1275-24C= (n.1275-24C=) c.1360-24C= c.1068-24C= (n.1068-24C=) c.1095-24C= (n.1095-24C=) c.1029-24C= (n.1029-24C=) | |
| 4 | g.16006714G>T | CA1440916732 | PROM1 | c.1302-24C>A (n.1302-24C>A) c.*985-24C>A (n.*985-24C>A) c.1275-24C>A (n.1275-24C>A) c.1360-24C>A c.1068-24C>A (n.1068-24C>A) c.1095-24C>A (n.1095-24C>A) c.1029-24C>A (n.1029-24C>A) | dbSNP gnomAD v4 |
| 4 | g.16006715T>C | CA550187679 | PROM1 | c.1302-25A>G (n.1302-25A>G) c.*985-25A>G (n.*985-25A>G) c.1275-25A>G (n.1275-25A>G) c.1360-25A>G c.1068-25A>G (n.1068-25A>G) c.1095-25A>G (n.1095-25A>G) c.1029-25A>G (n.1029-25A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006715T= | CA1440916733 | PROM1 | c.1302-25A= (n.1302-25A=) c.*985-25A= (n.*985-25A=) c.1275-25A= (n.1275-25A=) c.1360-25A= c.1068-25A= (n.1068-25A=) c.1095-25A= (n.1095-25A=) c.1029-25A= (n.1029-25A=) | |
| 4 | g.16006716A= | CA1440916734 | PROM1 | c.1302-26T= (n.1302-26T=) c.*985-26T= (n.*985-26T=) c.1275-26T= (n.1275-26T=) c.1360-26T= c.1068-26T= (n.1068-26T=) c.1095-26T= (n.1095-26T=) c.1029-26T= (n.1029-26T=) | |
| 4 | g.16006716A>G | CA550187680 | PROM1 | c.1302-26T>C (n.1302-26T>C) c.*985-26T>C (n.*985-26T>C) c.1275-26T>C (n.1275-26T>C) c.1360-26T>C c.1068-26T>C (n.1068-26T>C) c.1095-26T>C (n.1095-26T>C) c.1029-26T>C (n.1029-26T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006717T>C | CA1059677877 | PROM1 | c.1302-27A>G (n.1302-27A>G) c.*985-27A>G (n.*985-27A>G) c.1275-27A>G (n.1275-27A>G) c.1360-27A>G c.1068-27A>G (n.1068-27A>G) c.1095-27A>G (n.1095-27A>G) c.1029-27A>G (n.1029-27A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006717T= | CA1440916735 | PROM1 | c.1302-27A= (n.1302-27A=) c.*985-27A= (n.*985-27A=) c.1275-27A= (n.1275-27A=) c.1360-27A= c.1068-27A= (n.1068-27A=) c.1095-27A= (n.1095-27A=) c.1029-27A= (n.1029-27A=) |