| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |