UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16006547_16006565delinsAAGACGCCTCCGGTGTTGG | CA1440916646 | PROM1 | c.1427_1445delinsCCAACACCGGAGGCGTCTT (p.Ser476=) c.*1110_*1128delinsCCAACACCGGAGGCGTCTT (n.*1110_*1128delinsCCAACACCGGAGGCGTCTT) c.1400_1418delinsCCAACACCGGAGGCGTCTT (p.Ser467=) c.1485_1503delinsCCAACACCGGAGGCGTCTT c.1193_1211delinsCCAACACCGGAGGCGTCTT (p.Ser398=) c.1220_1238delinsCCAACACCGGAGGCGTCTT (p.Ser407=) c.1154_1172delinsCCAACACCGGAGGCGTCTT (p.Ser385=) | |
| 4 | g.16006552_16006569del | CA1440916649 | PROM1 | c.1427_1444del (p.Ser476_Val481del) c.*1110_*1127del (n.*1110_*1127del) c.1400_1417del (p.Ser467_Val472del) c.1485_1502del c.1193_1210del (p.Ser398_Val403del) c.1220_1237del (p.Ser407_Val412del) c.1154_1171del (p.Ser385_Val390del) | dbSNP |
| 4 | g.16006551C>A | CA356435085 | PROM1 | c.1441G>T (p.Val481Phe) c.*1124G>T (n.*1124G>T) c.1414G>T (p.Val472Phe) c.1499G>T c.1207G>T (p.Val403Phe) c.1234G>T (p.Val412Phe) c.1168G>T (p.Val390Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006551C= | CA1440916650 | PROM1 | c.1441G= (p.Val481=) c.*1124G= (n.*1124G=) c.1414G= (p.Val472=) c.1499G= c.1207G= (p.Val403=) c.1234G= (p.Val412=) c.1168G= (p.Val390=) | |
| 4 | g.16006551C>G | CA356435086 | PROM1 | c.1441G>C (p.Val481Leu) c.*1124G>C (n.*1124G>C) c.1414G>C (p.Val472Leu) c.1499G>C c.1207G>C (p.Val403Leu) c.1234G>C (p.Val412Leu) c.1168G>C (p.Val390Leu) | |
| 4 | g.16006551C>T | CA92594415 | PROM1 | c.1441G>A (p.Val481Ile) c.*1124G>A (n.*1124G>A) c.1414G>A (p.Val472Ile) c.1499G>A c.1207G>A (p.Val403Ile) c.1234G>A (p.Val412Ile) c.1168G>A (p.Val390Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.16006552G>A | CA2866770 | PROM1 | c.1440C>T (p.Gly480=) c.*1123C>T (n.*1123C>T) c.1413C>T (p.Gly471=) c.1498C>T c.1206C>T (p.Gly402=) c.1233C>T (p.Gly411=) c.1167C>T (p.Gly389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006552G>C | CA438386785 | PROM1 | c.1440C>G (p.Gly480=) c.*1123C>G (n.*1123C>G) c.1413C>G (p.Gly471=) c.1498C>G c.1206C>G (p.Gly402=) c.1233C>G (p.Gly411=) c.1167C>G (p.Gly389=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006552G= | CA1440916651 | PROM1 | c.1440C= (p.Gly480=) c.*1123C= (n.*1123C=) c.1413C= (p.Gly471=) c.1498C= c.1206C= (p.Gly402=) c.1233C= (p.Gly411=) c.1167C= (p.Gly389=) | |
| 4 | g.16006552G>T | CA438386786 | PROM1 | c.1440C>A (p.Gly480=) c.*1123C>A (n.*1123C>A) c.1413C>A (p.Gly471=) c.1498C>A c.1206C>A (p.Gly402=) c.1233C>A (p.Gly411=) c.1167C>A (p.Gly389=) | gnomAD v4 |
| 4 | g.16006553C>A | CA356435089 | PROM1 | c.1439G>T (p.Gly480Val) c.*1122G>T (n.*1122G>T) c.1412G>T (p.Gly471Val) c.1497G>T c.1205G>T (p.Gly402Val) c.1232G>T (p.Gly411Val) c.1166G>T (p.Gly389Val) | gnomAD v4 |
| 4 | g.16006553C>G | CA356435088 | PROM1 | c.1439G>C (p.Gly480Ala) c.*1122G>C (n.*1122G>C) c.1412G>C (p.Gly471Ala) c.1497G>C c.1205G>C (p.Gly402Ala) c.1232G>C (p.Gly411Ala) c.1166G>C (p.Gly389Ala) | |
| 4 | g.16006553C>T | CA356435091 | PROM1 | c.1439G>A (p.Gly480Asp) c.*1122G>A (n.*1122G>A) c.1412G>A (p.Gly471Asp) c.1497G>A c.1205G>A (p.Gly402Asp) c.1232G>A (p.Gly411Asp) c.1166G>A (p.Gly389Asp) | |
| 4 | g.16006554C>A | CA356435094 | PROM1 | c.1438G>T (p.Gly480Cys) c.*1121G>T (n.*1121G>T) c.1411G>T (p.Gly471Cys) c.1496G>T c.1204G>T (p.Gly402Cys) c.1231G>T (p.Gly411Cys) c.1165G>T (p.Gly389Cys) | gnomAD v4 |
| 4 | g.16006554C= | CA1440916652 | PROM1 | c.1438G= (p.Gly480=) c.*1121G= (n.*1121G=) c.1411G= (p.Gly471=) c.1496G= c.1204G= (p.Gly402=) c.1231G= (p.Gly411=) c.1165G= (p.Gly389=) | |
| 4 | g.16006554C>G | CA356435098 | PROM1 | c.1438G>C (p.Gly480Arg) c.*1121G>C (n.*1121G>C) c.1411G>C (p.Gly471Arg) c.1496G>C c.1204G>C (p.Gly402Arg) c.1231G>C (p.Gly411Arg) c.1165G>C (p.Gly389Arg) | |
| 4 | g.16006554C>T | CA2866771 | PROM1 | c.1438G>A (p.Gly480Ser) c.*1121G>A (n.*1121G>A) c.1411G>A (p.Gly471Ser) c.1496G>A c.1204G>A (p.Gly402Ser) c.1231G>A (p.Gly411Ser) c.1165G>A (p.Gly389Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006555T>A | CA438386788 | PROM1 | c.1437A>T (p.Gly479=) c.*1120A>T (n.*1120A>T) c.1410A>T (p.Gly470=) c.1495A>T c.1203A>T (p.Gly401=) c.1230A>T (p.Gly410=) c.1164A>T (p.Gly388=) | |
| 4 | g.16006555T>C | CA438386789 | PROM1 | c.1437A>G (p.Gly479=) c.*1120A>G (n.*1120A>G) c.1410A>G (p.Gly470=) c.1495A>G c.1203A>G (p.Gly401=) c.1230A>G (p.Gly410=) c.1164A>G (p.Gly388=) | gnomAD v4 |
| 4 | g.16006555T>G | CA438386792 | PROM1 | c.1437A>C (p.Gly479=) c.*1120A>C (n.*1120A>C) c.1410A>C (p.Gly470=) c.1495A>C c.1203A>C (p.Gly401=) c.1230A>C (p.Gly410=) c.1164A>C (p.Gly388=) | gnomAD v4 |
| 4 | g.16006556C>A | CA356435099 | PROM1 | c.1436G>T (p.Gly479Val) c.*1119G>T (n.*1119G>T) c.1409G>T (p.Gly470Val) c.1494G>T c.1202G>T (p.Gly401Val) c.1229G>T (p.Gly410Val) c.1163G>T (p.Gly388Val) | gnomAD v4 |
| 4 | g.16006556C>G | CA356435101 | PROM1 | c.1436G>C (p.Gly479Ala) c.*1119G>C (n.*1119G>C) c.1409G>C (p.Gly470Ala) c.1494G>C c.1202G>C (p.Gly401Ala) c.1229G>C (p.Gly410Ala) c.1163G>C (p.Gly388Ala) | |
| 4 | g.16006556C>T | CA356435103 | PROM1 | c.1436G>A (p.Gly479Glu) c.*1119G>A (n.*1119G>A) c.1409G>A (p.Gly470Glu) c.1494G>A c.1202G>A (p.Gly401Glu) c.1229G>A (p.Gly410Glu) c.1163G>A (p.Gly388Glu) | |
| 4 | g.16006557C>A | CA356435105 | PROM1 | c.1435G>T (p.Gly479Ter) c.*1118G>T (n.*1118G>T) c.1408G>T (p.Gly470Ter) c.1493G>T c.1201G>T (p.Gly401Ter) c.1228G>T (p.Gly410Ter) c.1162G>T (p.Gly388Ter) | gnomAD v4 |
| 4 | g.16006557C= | CA1440916653 | PROM1 | c.1435G= (p.Gly479=) c.*1118G= (n.*1118G=) c.1408G= (p.Gly470=) c.1493G= c.1201G= (p.Gly401=) c.1228G= (p.Gly410=) c.1162G= (p.Gly388=) | |
| 4 | g.16006557C>G | CA356435107 | PROM1 | c.1435G>C (p.Gly479Arg) c.*1118G>C (n.*1118G>C) c.1408G>C (p.Gly470Arg) c.1493G>C c.1201G>C (p.Gly401Arg) c.1228G>C (p.Gly410Arg) c.1162G>C (p.Gly388Arg) | |
| 4 | g.16006557C>T | CA2866772 | PROM1 | c.1435G>A (p.Gly479Arg) c.*1118G>A (n.*1118G>A) c.1408G>A (p.Gly470Arg) c.1493G>A c.1201G>A (p.Gly401Arg) c.1228G>A (p.Gly410Arg) c.1162G>A (p.Gly388Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006558G>A | CA2866773 | PROM1 | c.1434C>T (p.Thr478=) c.*1117C>T (n.*1117C>T) c.1407C>T (p.Thr469=) c.1492C>T c.1200C>T (p.Thr400=) c.1227C>T (p.Thr409=) c.1161C>T (p.Thr387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006558G>C | CA438386794 | PROM1 | c.1434C>G (p.Thr478=) c.*1117C>G (n.*1117C>G) c.1407C>G (p.Thr469=) c.1492C>G c.1200C>G (p.Thr400=) c.1227C>G (p.Thr409=) c.1161C>G (p.Thr387=) | |
| 4 | g.16006558G= | CA1440916654 | PROM1 | c.1434C= (p.Thr478=) c.*1117C= (n.*1117C=) c.1407C= (p.Thr469=) c.1492C= c.1200C= (p.Thr400=) c.1227C= (p.Thr409=) c.1161C= (p.Thr387=) | |
| 4 | g.16006558G>T | CA438386795 | PROM1 | c.1434C>A (p.Thr478=) c.*1117C>A (n.*1117C>A) c.1407C>A (p.Thr469=) c.1492C>A c.1200C>A (p.Thr400=) c.1227C>A (p.Thr409=) c.1161C>A (p.Thr387=) | gnomAD v4 |
| 4 | g.16006559dup | CA2670099964 | PROM1 | c.1434dup (p.Gly479ArgfsTer?) c.*1117dup (n.*1117dup) c.1407dup (p.Gly470ArgfsTer?) c.1492dup c.1200dup (p.Gly401ArgfsTer?) c.1227dup (p.Gly410ArgfsTer?) c.1161dup (p.Gly388ArgfsTer?) | gnomAD v4 |
| 4 | g.16006559G>A | CA356435111 | PROM1 | c.1433C>T (p.Thr478Ile) c.*1116C>T (n.*1116C>T) c.1406C>T (p.Thr469Ile) c.1491C>T c.1199C>T (p.Thr400Ile) c.1226C>T (p.Thr409Ile) c.1160C>T (p.Thr387Ile) | gnomAD v4 |
| 4 | g.16006559G>C | CA356435114 | PROM1 | c.1433C>G (p.Thr478Ser) c.*1116C>G (n.*1116C>G) c.1406C>G (p.Thr469Ser) c.1491C>G c.1199C>G (p.Thr400Ser) c.1226C>G (p.Thr409Ser) c.1160C>G (p.Thr387Ser) | |
| 4 | g.16006559G>T | CA356435116 | PROM1 | c.1433C>A (p.Thr478Asn) c.*1116C>A (n.*1116C>A) c.1406C>A (p.Thr469Asn) c.1491C>A c.1199C>A (p.Thr400Asn) c.1226C>A (p.Thr409Asn) c.1160C>A (p.Thr387Asn) | gnomAD v4 |
| 4 | g.16006560T>A | CA356435123 | PROM1 | c.1432A>T (p.Thr478Ser) c.*1115A>T (n.*1115A>T) c.1405A>T (p.Thr469Ser) c.1490A>T c.1198A>T (p.Thr400Ser) c.1225A>T (p.Thr409Ser) c.1159A>T (p.Thr387Ser) | |
| 4 | g.16006560T>C | CA356435121 | PROM1 | c.1432A>G (p.Thr478Ala) c.*1115A>G (n.*1115A>G) c.1405A>G (p.Thr469Ala) c.1490A>G c.1198A>G (p.Thr400Ala) c.1225A>G (p.Thr409Ala) c.1159A>G (p.Thr387Ala) | |
| 4 | g.16006560T>G | CA356435120 | PROM1 | c.1432A>C (p.Thr478Pro) c.*1115A>C (n.*1115A>C) c.1405A>C (p.Thr469Pro) c.1490A>C c.1198A>C (p.Thr400Pro) c.1225A>C (p.Thr409Pro) c.1159A>C (p.Thr387Pro) | gnomAD v4 |
| 4 | g.16006561G>A | CA438386796 | PROM1 | c.1431C>T (p.Asn477=) c.*1114C>T (n.*1114C>T) c.1404C>T (p.Asn468=) c.1489C>T c.1197C>T (p.Asn399=) c.1224C>T (p.Asn408=) c.1158C>T (p.Asn386=) | gnomAD v4 |
| 4 | g.16006561G>C | CA356435125 | PROM1 | c.1431C>G (p.Asn477Lys) c.*1114C>G (n.*1114C>G) c.1404C>G (p.Asn468Lys) c.1489C>G c.1197C>G (p.Asn399Lys) c.1224C>G (p.Asn408Lys) c.1158C>G (p.Asn386Lys) | |
| 4 | g.16006561G>T | CA356435127 | PROM1 | c.1431C>A (p.Asn477Lys) c.*1114C>A (n.*1114C>A) c.1404C>A (p.Asn468Lys) c.1489C>A c.1197C>A (p.Asn399Lys) c.1224C>A (p.Asn408Lys) c.1158C>A (p.Asn386Lys) | gnomAD v4 |
| 4 | g.16006562T>A | CA356435129 | PROM1 | c.1430A>T (p.Asn477Ile) c.*1113A>T (n.*1113A>T) c.1403A>T (p.Asn468Ile) c.1488A>T c.1196A>T (p.Asn399Ile) c.1223A>T (p.Asn408Ile) c.1157A>T (p.Asn386Ile) | |
| 4 | g.16006562T>C | CA356435131 | PROM1 | c.1430A>G (p.Asn477Ser) c.*1113A>G (n.*1113A>G) c.1403A>G (p.Asn468Ser) c.1488A>G c.1196A>G (p.Asn399Ser) c.1223A>G (p.Asn408Ser) c.1157A>G (p.Asn386Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006562T>G | CA356435133 | PROM1 | c.1430A>C (p.Asn477Thr) c.*1113A>C (n.*1113A>C) c.1403A>C (p.Asn468Thr) c.1488A>C c.1196A>C (p.Asn399Thr) c.1223A>C (p.Asn408Thr) c.1157A>C (p.Asn386Thr) | |
| 4 | g.16006562T= | CA1440916655 | PROM1 | c.1430A= (p.Asn477=) c.*1113A= (n.*1113A=) c.1403A= (p.Asn468=) c.1488A= c.1196A= (p.Asn399=) c.1223A= (p.Asn408=) c.1157A= (p.Asn386=) | |
| 4 | g.16006563T>A | CA356435135 | PROM1 | c.1429A>T (p.Asn477Tyr) c.*1112A>T (n.*1112A>T) c.1402A>T (p.Asn468Tyr) c.1487A>T c.1195A>T (p.Asn399Tyr) c.1222A>T (p.Asn408Tyr) c.1156A>T (p.Asn386Tyr) | |
| 4 | g.16006563T>C | CA356435137 | PROM1 | c.1429A>G (p.Asn477Asp) c.*1112A>G (n.*1112A>G) c.1402A>G (p.Asn468Asp) c.1487A>G c.1195A>G (p.Asn399Asp) c.1222A>G (p.Asn408Asp) c.1156A>G (p.Asn386Asp) | |
| 4 | g.16006563T>G | CA356435139 | PROM1 | c.1429A>C (p.Asn477His) c.*1112A>C (n.*1112A>C) c.1402A>C (p.Asn468His) c.1487A>C c.1195A>C (p.Asn399His) c.1222A>C (p.Asn408His) c.1156A>C (p.Asn386His) | |
| 4 | g.16006564G>A | CA438386800 | PROM1 | c.1428C>T (p.Ser476=) c.*1111C>T (n.*1111C>T) c.1401C>T (p.Ser467=) c.1486C>T c.1194C>T (p.Ser398=) c.1221C>T (p.Ser407=) c.1155C>T (p.Ser385=) | |
| 4 | g.16006564G>C | CA438386798 | PROM1 | c.1428C>G (p.Ser476=) c.*1111C>G (n.*1111C>G) c.1401C>G (p.Ser467=) c.1486C>G c.1194C>G (p.Ser398=) c.1221C>G (p.Ser407=) c.1155C>G (p.Ser385=) | |
| 4 | g.16006564G>T | CA438386799 | PROM1 | c.1428C>A (p.Ser476=) c.*1111C>A (n.*1111C>A) c.1401C>A (p.Ser467=) c.1486C>A c.1194C>A (p.Ser398=) c.1221C>A (p.Ser407=) c.1155C>A (p.Ser385=) | |
| 4 | g.16006565G>A | CA356435142 | PROM1 | c.1427C>T (p.Ser476Phe) c.*1110C>T (n.*1110C>T) c.1400C>T (p.Ser467Phe) c.1485C>T c.1193C>T (p.Ser398Phe) c.1220C>T (p.Ser407Phe) c.1154C>T (p.Ser385Phe) | dbSNP gnomAD v2 |
| 4 | g.16006565G>C | CA356435143 | PROM1 | c.1427C>G (p.Ser476Cys) c.*1110C>G (n.*1110C>G) c.1400C>G (p.Ser467Cys) c.1485C>G c.1193C>G (p.Ser398Cys) c.1220C>G (p.Ser407Cys) c.1154C>G (p.Ser385Cys) | |
| 4 | g.16006565G= | CA1440916656 | PROM1 | c.1427C= (p.Ser476=) c.*1110C= (n.*1110C=) c.1400C= (p.Ser467=) c.1485C= c.1193C= (p.Ser398=) c.1220C= (p.Ser407=) c.1154C= (p.Ser385=) | |
| 4 | g.16006565G>T | CA356435145 | PROM1 | c.1427C>A (p.Ser476Tyr) c.*1110C>A (n.*1110C>A) c.1400C>A (p.Ser467Tyr) c.1485C>A c.1193C>A (p.Ser398Tyr) c.1220C>A (p.Ser407Tyr) c.1154C>A (p.Ser385Tyr) | gnomAD v4 |
| 4 | g.16006566A>C | CA356435149 | PROM1 | c.1426T>G (p.Ser476Ala) c.*1109T>G (n.*1109T>G) c.1399T>G (p.Ser467Ala) c.1484T>G c.1192T>G (p.Ser398Ala) c.1219T>G (p.Ser407Ala) c.1153T>G (p.Ser385Ala) | |
| 4 | g.16006566A>G | CA356435150 | PROM1 | c.1426T>C (p.Ser476Pro) c.*1109T>C (n.*1109T>C) c.1399T>C (p.Ser467Pro) c.1484T>C c.1192T>C (p.Ser398Pro) c.1219T>C (p.Ser407Pro) c.1153T>C (p.Ser385Pro) | |
| 4 | g.16006566A>T | CA356435147 | PROM1 | c.1426T>A (p.Ser476Thr) c.*1109T>A (n.*1109T>A) c.1399T>A (p.Ser467Thr) c.1484T>A c.1192T>A (p.Ser398Thr) c.1219T>A (p.Ser407Thr) c.1153T>A (p.Ser385Thr) | |
| 4 | g.16006567G>A | CA438386803 | PROM1 | c.1425C>T (p.Val475=) c.*1108C>T (n.*1108C>T) c.1398C>T (p.Val466=) c.1483C>T c.1191C>T (p.Val397=) c.1218C>T (p.Val406=) c.1152C>T (p.Val384=) | |
| 4 | g.16006567G>C | CA438386804 | PROM1 | c.1425C>G (p.Val475=) c.*1108C>G (n.*1108C>G) c.1398C>G (p.Val466=) c.1483C>G c.1191C>G (p.Val397=) c.1218C>G (p.Val406=) c.1152C>G (p.Val384=) | |
| 4 | g.16006567G>T | CA438386805 | PROM1 | c.1425C>A (p.Val475=) c.*1108C>A (n.*1108C>A) c.1398C>A (p.Val466=) c.1483C>A c.1191C>A (p.Val397=) c.1218C>A (p.Val406=) c.1152C>A (p.Val384=) | gnomAD v4 |
| 4 | g.16006567_16006569delinsGAC | CA1440916657 | PROM1 | c.1423_1425delinsGTC (p.Val475=) c.*1106_*1108delinsGTC (n.*1106_*1108delinsGTC) c.1396_1398delinsGTC (p.Val466=) c.1481_1483delinsGTC c.1189_1191delinsGTC (p.Val397=) c.1216_1218delinsGTC (p.Val406=) c.1150_1152delinsGTC (p.Val384=) | |
| 4 | g.16006568A>C | CA356435153 | PROM1 | c.1424T>G (p.Val475Gly) c.*1107T>G (n.*1107T>G) c.1397T>G (p.Val466Gly) c.1482T>G c.1190T>G (p.Val397Gly) c.1217T>G (p.Val406Gly) c.1151T>G (p.Val384Gly) | |
| 4 | g.16006568A>G | CA356435154 | PROM1 | c.1424T>C (p.Val475Ala) c.*1107T>C (n.*1107T>C) c.1397T>C (p.Val466Ala) c.1482T>C c.1190T>C (p.Val397Ala) c.1217T>C (p.Val406Ala) c.1151T>C (p.Val384Ala) | |
| 4 | g.16006568A>T | CA356435156 | PROM1 | c.1424T>A (p.Val475Asp) c.*1107T>A (n.*1107T>A) c.1397T>A (p.Val466Asp) c.1482T>A c.1190T>A (p.Val397Asp) c.1217T>A (p.Val406Asp) c.1151T>A (p.Val384Asp) | ClinVar dbSNP |
| 4 | g.16006571_16006572del | CA789850355 | PROM1 | c.1423_1424del (p.Val475LeufsTer?) c.*1106_*1107del (n.*1106_*1107del) c.1396_1397del (p.Val466LeufsTer?) c.1481_1482del c.1189_1190del (p.Val397LeufsTer?) c.1216_1217del (p.Val406LeufsTer?) c.1150_1151del (p.Val384LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 4 | g.16006569C>A | CA356435158 | PROM1 | c.1423G>T (p.Val475Phe) c.*1106G>T (n.*1106G>T) c.1396G>T (p.Val466Phe) c.1481G>T c.1189G>T (p.Val397Phe) c.1216G>T (p.Val406Phe) c.1150G>T (p.Val384Phe) | gnomAD v4 COSMIC COSMIC |
| 4 | g.16006569C>G | CA356435160 | PROM1 | c.1423G>C (p.Val475Leu) c.*1106G>C (n.*1106G>C) c.1396G>C (p.Val466Leu) c.1481G>C c.1189G>C (p.Val397Leu) c.1216G>C (p.Val406Leu) c.1150G>C (p.Val384Leu) | gnomAD v4 |
| 4 | g.16006569C>T | CA356435161 | PROM1 | c.1423G>A (p.Val475Ile) c.*1106G>A (n.*1106G>A) c.1396G>A (p.Val466Ile) c.1481G>A c.1189G>A (p.Val397Ile) c.1216G>A (p.Val406Ile) c.1150G>A (p.Val384Ile) | |
| 4 | g.16006570A= | CA1440916658 | PROM1 | c.1422T= (p.Cys474=) c.*1105T= (n.*1105T=) c.1395T= (p.Cys465=) c.1480T= c.1188T= (p.Cys396=) c.1215T= (p.Cys405=) c.1149T= (p.Cys383=) | |
| 4 | g.16006570A>C | CA92594446 | PROM1 | c.1422T>G (p.Cys474Trp) c.*1105T>G (n.*1105T>G) c.1395T>G (p.Cys465Trp) c.1480T>G c.1188T>G (p.Cys396Trp) c.1215T>G (p.Cys405Trp) c.1149T>G (p.Cys383Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006570A>G | CA438386808 | PROM1 | c.1422T>C (p.Cys474=) c.*1105T>C (n.*1105T>C) c.1395T>C (p.Cys465=) c.1480T>C c.1188T>C (p.Cys396=) c.1215T>C (p.Cys405=) c.1149T>C (p.Cys383=) | ClinVar |
| 4 | g.16006570A>T | CA356435163 | PROM1 | c.1422T>A (p.Cys474Ter) c.*1105T>A (n.*1105T>A) c.1395T>A (p.Cys465Ter) c.1480T>A c.1188T>A (p.Cys396Ter) c.1215T>A (p.Cys405Ter) c.1149T>A (p.Cys383Ter) | |
| 4 | g.16006571C>A | CA356435168 | PROM1 | c.1421G>T (p.Cys474Phe) c.*1104G>T (n.*1104G>T) c.1394G>T (p.Cys465Phe) c.1479G>T c.1187G>T (p.Cys396Phe) c.1214G>T (p.Cys405Phe) c.1148G>T (p.Cys383Phe) | gnomAD v4 |
| 4 | g.16006571C= | CA1440916659 | PROM1 | c.1421G= (p.Cys474=) c.*1104G= (n.*1104G=) c.1394G= (p.Cys465=) c.1479G= c.1187G= (p.Cys396=) c.1214G= (p.Cys405=) c.1148G= (p.Cys383=) | |
| 4 | g.16006571C>G | CA356435170 | PROM1 | c.1421G>C (p.Cys474Ser) c.*1104G>C (n.*1104G>C) c.1394G>C (p.Cys465Ser) c.1479G>C c.1187G>C (p.Cys396Ser) c.1214G>C (p.Cys405Ser) c.1148G>C (p.Cys383Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006571C>T | CA356435172 | PROM1 | c.1421G>A (p.Cys474Tyr) c.*1104G>A (n.*1104G>A) c.1394G>A (p.Cys465Tyr) c.1479G>A c.1187G>A (p.Cys396Tyr) c.1214G>A (p.Cys405Tyr) c.1148G>A (p.Cys383Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.16006572A= | CA1440916660 | PROM1 | c.1420T= (p.Cys474=) c.*1103T= (n.*1103T=) c.1393T= (p.Cys465=) c.1478T= c.1186T= (p.Cys396=) c.1213T= (p.Cys405=) c.1147T= (p.Cys383=) | |
| 4 | g.16006572A>C | CA356435174 | PROM1 | c.1420T>G (p.Cys474Gly) c.*1103T>G (n.*1103T>G) c.1393T>G (p.Cys465Gly) c.1478T>G c.1186T>G (p.Cys396Gly) c.1213T>G (p.Cys405Gly) c.1147T>G (p.Cys383Gly) | |
| 4 | g.16006572A>G | CA356435176 | PROM1 | c.1420T>C (p.Cys474Arg) c.*1103T>C (n.*1103T>C) c.1393T>C (p.Cys465Arg) c.1478T>C c.1186T>C (p.Cys396Arg) c.1213T>C (p.Cys405Arg) c.1147T>C (p.Cys383Arg) | dbSNP gnomAD v2 |
| 4 | g.16006572A>T | CA356435178 | PROM1 | c.1420T>A (p.Cys474Ser) c.*1103T>A (n.*1103T>A) c.1393T>A (p.Cys465Ser) c.1478T>A c.1186T>A (p.Cys396Ser) c.1213T>A (p.Cys405Ser) c.1147T>A (p.Cys383Ser) | |
| 4 | g.16006573G>A | CA438386810 | PROM1 | c.1419C>T (p.Gly473=) c.*1102C>T (n.*1102C>T) c.1392C>T (p.Gly464=) c.1477C>T c.1185C>T (p.Gly395=) c.1212C>T (p.Gly404=) c.1146C>T (p.Gly382=) | |
| 4 | g.16006573G>C | CA438386812 | PROM1 | c.1419C>G (p.Gly473=) c.*1102C>G (n.*1102C>G) c.1392C>G (p.Gly464=) c.1477C>G c.1185C>G (p.Gly395=) c.1212C>G (p.Gly404=) c.1146C>G (p.Gly382=) | |
| 4 | g.16006573G>T | CA438386813 | PROM1 | c.1419C>A (p.Gly473=) c.*1102C>A (n.*1102C>A) c.1392C>A (p.Gly464=) c.1477C>A c.1185C>A (p.Gly395=) c.1212C>A (p.Gly404=) c.1146C>A (p.Gly382=) | |
| 4 | g.16006574C>A | CA356435180 | PROM1 | c.1418G>T (p.Gly473Val) c.*1101G>T (n.*1101G>T) c.1391G>T (p.Gly464Val) c.1476G>T c.1184G>T (p.Gly395Val) c.1211G>T (p.Gly404Val) c.1145G>T (p.Gly382Val) | dbSNP gnomAD v4 |
| 4 | g.16006574C= | CA1440916661 | PROM1 | c.1418G= (p.Gly473=) c.*1101G= (n.*1101G=) c.1391G= (p.Gly464=) c.1476G= c.1184G= (p.Gly395=) c.1211G= (p.Gly404=) c.1145G= (p.Gly382=) | |
| 4 | g.16006574C>G | CA356435183 | PROM1 | c.1418G>C (p.Gly473Ala) c.*1101G>C (n.*1101G>C) c.1391G>C (p.Gly464Ala) c.1476G>C c.1184G>C (p.Gly395Ala) c.1211G>C (p.Gly404Ala) c.1145G>C (p.Gly382Ala) | |
| 4 | g.16006574C>T | CA356435181 | PROM1 | c.1418G>A (p.Gly473Asp) c.*1101G>A (n.*1101G>A) c.1391G>A (p.Gly464Asp) c.1476G>A c.1184G>A (p.Gly395Asp) c.1211G>A (p.Gly404Asp) c.1145G>A (p.Gly382Asp) | |
| 4 | g.16006575C>A | CA356435185 | PROM1 | c.1417G>T (p.Gly473Cys) c.*1100G>T (n.*1100G>T) c.1390G>T (p.Gly464Cys) c.1475G>T c.1183G>T (p.Gly395Cys) c.1210G>T (p.Gly404Cys) c.1144G>T (p.Gly382Cys) | |
| 4 | g.16006575C= | CA1440916662 | PROM1 | c.1417G= (p.Gly473=) c.*1100G= (n.*1100G=) c.1390G= (p.Gly464=) c.1475G= c.1183G= (p.Gly395=) c.1210G= (p.Gly404=) c.1144G= (p.Gly382=) | |
| 4 | g.16006575C>G | CA356435187 | PROM1 | c.1417G>C (p.Gly473Arg) c.*1100G>C (n.*1100G>C) c.1390G>C (p.Gly464Arg) c.1475G>C c.1183G>C (p.Gly395Arg) c.1210G>C (p.Gly404Arg) c.1144G>C (p.Gly382Arg) | |
| 4 | g.16006575C>T | CA2866774 | PROM1 | c.1417G>A (p.Gly473Ser) c.*1100G>A (n.*1100G>A) c.1390G>A (p.Gly464Ser) c.1475G>A c.1183G>A (p.Gly395Ser) c.1210G>A (p.Gly404Ser) c.1144G>A (p.Gly382Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006576T>A | CA438386816 | PROM1 | c.1416A>T (p.Arg472=) c.*1099A>T (n.*1099A>T) c.1389A>T (p.Arg463=) c.1474A>T c.1182A>T (p.Arg394=) c.1209A>T (p.Arg403=) c.1143A>T (p.Arg381=) | |
| 4 | g.16006576T>C | CA438386817 | PROM1 | c.1416A>G (p.Arg472=) c.*1099A>G (n.*1099A>G) c.1389A>G (p.Arg463=) c.1474A>G c.1182A>G (p.Arg394=) c.1209A>G (p.Arg403=) c.1143A>G (p.Arg381=) | |
| 4 | g.16006576T>G | CA438386818 | PROM1 | c.1416A>C (p.Arg472=) c.*1099A>C (n.*1099A>C) c.1389A>C (p.Arg463=) c.1474A>C c.1182A>C (p.Arg394=) c.1209A>C (p.Arg403=) c.1143A>C (p.Arg381=) | |
| 4 | g.16006577C>A | CA356435190 | PROM1 | c.1415G>T (p.Arg472Leu) c.*1098G>T (n.*1098G>T) c.1388G>T (p.Arg463Leu) c.1473G>T c.1181G>T (p.Arg394Leu) c.1208G>T (p.Arg403Leu) c.1142G>T (p.Arg381Leu) | |
| 4 | g.16006577C= | CA1440916663 | PROM1 | c.1415G= (p.Arg472=) c.*1098G= (n.*1098G=) c.1388G= (p.Arg463=) c.1473G= c.1181G= (p.Arg394=) c.1208G= (p.Arg403=) c.1142G= (p.Arg381=) | |
| 4 | g.16006577C>G | CA356435193 | PROM1 | c.1415G>C (p.Arg472Pro) c.*1098G>C (n.*1098G>C) c.1388G>C (p.Arg463Pro) c.1473G>C c.1181G>C (p.Arg394Pro) c.1208G>C (p.Arg403Pro) c.1142G>C (p.Arg381Pro) | |
| 4 | g.16006577C>T | CA2866775 | PROM1 | c.1415G>A (p.Arg472Gln) c.*1098G>A (n.*1098G>A) c.1388G>A (p.Arg463Gln) c.1473G>A c.1181G>A (p.Arg394Gln) c.1208G>A (p.Arg403Gln) c.1142G>A (p.Arg381Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.16006578G>A | CA2866776 | PROM1 | c.1414C>T (p.Arg472Ter) c.*1097C>T (n.*1097C>T) c.1387C>T (p.Arg463Ter) c.1472C>T c.1180C>T (p.Arg394Ter) c.1207C>T (p.Arg403Ter) c.1141C>T (p.Arg381Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006578G>C | CA356435196 | PROM1 | c.1414C>G (p.Arg472Gly) c.*1097C>G (n.*1097C>G) c.1387C>G (p.Arg463Gly) c.1472C>G c.1180C>G (p.Arg394Gly) c.1207C>G (p.Arg403Gly) c.1141C>G (p.Arg381Gly) | |
| 4 | g.16006578G= | CA1440916664 | PROM1 | c.1414C= (p.Arg472=) c.*1097C= (n.*1097C=) c.1387C= (p.Arg463=) c.1472C= c.1180C= (p.Arg394=) c.1207C= (p.Arg403=) c.1141C= (p.Arg381=) | |
| 4 | g.16006578G>T | CA438386821 | PROM1 | c.1414C>A (p.Arg472=) c.*1097C>A (n.*1097C>A) c.1387C>A (p.Arg463=) c.1472C>A c.1180C>A (p.Arg394=) c.1207C>A (p.Arg403=) c.1141C>A (p.Arg381=) | |
| 4 | g.16006579_16006580insAGG | CA2580070890 | PROM1 | c.1414_1415insTCC (p.Thr471_Arg472insLeu) c.*1097_*1098insTCC (n.*1097_*1098insTCC) c.1387_1388insTCC (p.Thr462_Arg463insLeu) c.1472_1473insTCC c.1180_1181insTCC (p.Thr393_Arg394insLeu) c.1207_1208insTCC (p.Thr402_Arg403insLeu) c.1141_1142insTCC (p.Thr380_Arg381insLeu) | ClinVar |
| 4 | g.16006580del | CA2586973707 | PROM1 | c.1414del (p.Arg472GlufsTer18) c.*1097del (n.*1097del) c.1387del (p.Arg463GlufsTer18) c.1472del c.1180del (p.Arg394GlufsTer18) c.1207del (p.Arg403GlufsTer18) c.1141del (p.Arg381GlufsTer18) | |
| 4 | g.16006579G>A | CA438386822 | PROM1 | c.1413C>T (p.Thr471=) c.*1096C>T (n.*1096C>T) c.1386C>T (p.Thr462=) c.1471C>T c.1179C>T (p.Thr393=) c.1206C>T (p.Thr402=) c.1140C>T (p.Thr380=) | |
| 4 | g.16006579G>C | CA2866777 | PROM1 | c.1413C>G (p.Thr471=) c.*1096C>G (n.*1096C>G) c.1386C>G (p.Thr462=) c.1471C>G c.1179C>G (p.Thr393=) c.1206C>G (p.Thr402=) c.1140C>G (p.Thr380=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006579G= | CA1440916665 | PROM1 | c.1413C= (p.Thr471=) c.*1096C= (n.*1096C=) c.1386C= (p.Thr462=) c.1471C= c.1179C= (p.Thr393=) c.1206C= (p.Thr402=) c.1140C= (p.Thr380=) | |
| 4 | g.16006579G>T | CA438386824 | PROM1 | c.1413C>A (p.Thr471=) c.*1096C>A (n.*1096C>A) c.1386C>A (p.Thr462=) c.1471C>A c.1179C>A (p.Thr393=) c.1206C>A (p.Thr402=) c.1140C>A (p.Thr380=) | |
| 4 | g.16006580G>A | CA356435203 | PROM1 | c.1412C>T (p.Thr471Ile) c.*1095C>T (n.*1095C>T) c.1385C>T (p.Thr462Ile) c.1470C>T c.1178C>T (p.Thr393Ile) c.1205C>T (p.Thr402Ile) c.1139C>T (p.Thr380Ile) | |
| 4 | g.16006580G>C | CA356435206 | PROM1 | c.1412C>G (p.Thr471Ser) c.*1095C>G (n.*1095C>G) c.1385C>G (p.Thr462Ser) c.1470C>G c.1178C>G (p.Thr393Ser) c.1205C>G (p.Thr402Ser) c.1139C>G (p.Thr380Ser) | |
| 4 | g.16006580G>T | CA356435208 | PROM1 | c.1412C>A (p.Thr471Asn) c.*1095C>A (n.*1095C>A) c.1385C>A (p.Thr462Asn) c.1470C>A c.1178C>A (p.Thr393Asn) c.1205C>A (p.Thr402Asn) c.1139C>A (p.Thr380Asn) | |
| 4 | g.16006581T>A | CA356435216 | PROM1 | c.1411A>T (p.Thr471Ser) c.*1094A>T (n.*1094A>T) c.1384A>T (p.Thr462Ser) c.1469A>T c.1177A>T (p.Thr393Ser) c.1204A>T (p.Thr402Ser) c.1138A>T (p.Thr380Ser) | |
| 4 | g.16006581T>C | CA356435212 | PROM1 | c.1411A>G (p.Thr471Ala) c.*1094A>G (n.*1094A>G) c.1384A>G (p.Thr462Ala) c.1469A>G c.1177A>G (p.Thr393Ala) c.1204A>G (p.Thr402Ala) c.1138A>G (p.Thr380Ala) | |
| 4 | g.16006581T>G | CA356435210 | PROM1 | c.1411A>C (p.Thr471Pro) c.*1094A>C (n.*1094A>C) c.1384A>C (p.Thr462Pro) c.1469A>C c.1177A>C (p.Thr393Pro) c.1204A>C (p.Thr402Pro) c.1138A>C (p.Thr380Pro) | |
| 4 | g.16006582G>A | CA438386825 | PROM1 | c.1410C>T (p.Thr470=) c.*1093C>T (n.*1093C>T) c.1383C>T (p.Thr461=) c.1468C>T c.1176C>T (p.Thr392=) c.1203C>T (p.Thr401=) c.1137C>T (p.Thr379=) | gnomAD v4 |
| 4 | g.16006582G>C | CA438386826 | PROM1 | c.1410C>G (p.Thr470=) c.*1093C>G (n.*1093C>G) c.1383C>G (p.Thr461=) c.1468C>G c.1176C>G (p.Thr392=) c.1203C>G (p.Thr401=) c.1137C>G (p.Thr379=) | |
| 4 | g.16006582G= | CA1440916666 | PROM1 | c.1410C= (p.Thr470=) c.*1093C= (n.*1093C=) c.1383C= (p.Thr461=) c.1468C= c.1176C= (p.Thr392=) c.1203C= (p.Thr401=) c.1137C= (p.Thr379=) | |
| 4 | g.16006582G>T | CA2866778 | PROM1 | c.1410C>A (p.Thr470=) c.*1093C>A (n.*1093C>A) c.1383C>A (p.Thr461=) c.1468C>A c.1176C>A (p.Thr392=) c.1203C>A (p.Thr401=) c.1137C>A (p.Thr379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006583G>A | CA356435217 | PROM1 | c.1409C>T (p.Thr470Ile) c.*1092C>T (n.*1092C>T) c.1382C>T (p.Thr461Ile) c.1467C>T c.1175C>T (p.Thr392Ile) c.1202C>T (p.Thr401Ile) c.1136C>T (p.Thr379Ile) | |
| 4 | g.16006583G>C | CA356435218 | PROM1 | c.1409C>G (p.Thr470Ser) c.*1092C>G (n.*1092C>G) c.1382C>G (p.Thr461Ser) c.1467C>G c.1175C>G (p.Thr392Ser) c.1202C>G (p.Thr401Ser) c.1136C>G (p.Thr379Ser) | |
| 4 | g.16006583G>T | CA356435219 | PROM1 | c.1409C>A (p.Thr470Asn) c.*1092C>A (n.*1092C>A) c.1382C>A (p.Thr461Asn) c.1467C>A c.1175C>A (p.Thr392Asn) c.1202C>A (p.Thr401Asn) c.1136C>A (p.Thr379Asn) | |
| 4 | g.16006584T>A | CA356435220 | PROM1 | c.1408A>T (p.Thr470Ser) c.*1091A>T (n.*1091A>T) c.1381A>T (p.Thr461Ser) c.1466A>T c.1174A>T (p.Thr392Ser) c.1201A>T (p.Thr401Ser) c.1135A>T (p.Thr379Ser) | COSMIC COSMIC |
| 4 | g.16006584T>C | CA2866779 | PROM1 | c.1408A>G (p.Thr470Ala) c.*1091A>G (n.*1091A>G) c.1381A>G (p.Thr461Ala) c.1466A>G c.1174A>G (p.Thr392Ala) c.1201A>G (p.Thr401Ala) c.1135A>G (p.Thr379Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006584T>G | CA356435221 | PROM1 | c.1408A>C (p.Thr470Pro) c.*1091A>C (n.*1091A>C) c.1381A>C (p.Thr461Pro) c.1466A>C c.1174A>C (p.Thr392Pro) c.1201A>C (p.Thr401Pro) c.1135A>C (p.Thr379Pro) | |
| 4 | g.16006584T= | CA1440916667 | PROM1 | c.1408A= (p.Thr470=) c.*1091A= (n.*1091A=) c.1381A= (p.Thr461=) c.1466A= c.1174A= (p.Thr392=) c.1201A= (p.Thr401=) c.1135A= (p.Thr379=) | |
| 4 | g.16006585C>A | CA438386831 | PROM1 | c.1407G>T (p.Pro469=) c.*1090G>T (n.*1090G>T) c.1380G>T (p.Pro460=) c.1465G>T c.1173G>T (p.Pro391=) c.1200G>T (p.Pro400=) c.1134G>T (p.Pro378=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006585C= | CA1440916668 | PROM1 | c.1407G= (p.Pro469=) c.*1090G= (n.*1090G=) c.1380G= (p.Pro460=) c.1465G= c.1173G= (p.Pro391=) c.1200G= (p.Pro400=) c.1134G= (p.Pro378=) | |
| 4 | g.16006585C>G | CA438386832 | PROM1 | c.1407G>C (p.Pro469=) c.*1090G>C (n.*1090G>C) c.1380G>C (p.Pro460=) c.1465G>C c.1173G>C (p.Pro391=) c.1200G>C (p.Pro400=) c.1134G>C (p.Pro378=) | gnomAD v4 |
| 4 | g.16006585C>T | CA2866780 | PROM1 | c.1407G>A (p.Pro469=) c.*1090G>A (n.*1090G>A) c.1380G>A (p.Pro460=) c.1465G>A c.1173G>A (p.Pro391=) c.1200G>A (p.Pro400=) c.1134G>A (p.Pro378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006585_16006586insA | CA2670099976 | PROM1 | c.1406_1407insT (p.Thr470AspfsTer?) c.*1089_*1090insT (n.*1089_*1090insT) c.1379_1380insT (p.Thr461AspfsTer?) c.1464_1465insT c.1172_1173insT (p.Thr392AspfsTer?) c.1199_1200insT (p.Thr401AspfsTer?) c.1133_1134insT (p.Thr379AspfsTer?) | gnomAD v4 |
| 4 | g.16006586G>A | CA356435223 | PROM1 | c.1406C>T (p.Pro469Leu) c.*1089C>T (n.*1089C>T) c.1379C>T (p.Pro460Leu) c.1464C>T c.1172C>T (p.Pro391Leu) c.1199C>T (p.Pro400Leu) c.1133C>T (p.Pro378Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006586G>C | CA356435228 | PROM1 | c.1406C>G (p.Pro469Arg) c.*1089C>G (n.*1089C>G) c.1379C>G (p.Pro460Arg) c.1464C>G c.1172C>G (p.Pro391Arg) c.1199C>G (p.Pro400Arg) c.1133C>G (p.Pro378Arg) | gnomAD v4 |
| 4 | g.16006586G= | CA1440916669 | PROM1 | c.1406C= (p.Pro469=) c.*1089C= (n.*1089C=) c.1379C= (p.Pro460=) c.1464C= c.1172C= (p.Pro391=) c.1199C= (p.Pro400=) c.1133C= (p.Pro378=) | |
| 4 | g.16006586G>T | CA356435229 | PROM1 | c.1406C>A (p.Pro469Gln) c.*1089C>A (n.*1089C>A) c.1379C>A (p.Pro460Gln) c.1464C>A c.1172C>A (p.Pro391Gln) c.1199C>A (p.Pro400Gln) c.1133C>A (p.Pro378Gln) | |
| 4 | g.16006587G>A | CA356435231 | PROM1 | c.1405C>T (p.Pro469Ser) c.*1088C>T (n.*1088C>T) c.1378C>T (p.Pro460Ser) c.1463C>T c.1171C>T (p.Pro391Ser) c.1198C>T (p.Pro400Ser) c.1132C>T (p.Pro378Ser) | |
| 4 | g.16006587G>C | CA356435233 | PROM1 | c.1405C>G (p.Pro469Ala) c.*1088C>G (n.*1088C>G) c.1378C>G (p.Pro460Ala) c.1463C>G c.1171C>G (p.Pro391Ala) c.1198C>G (p.Pro400Ala) c.1132C>G (p.Pro378Ala) | |
| 4 | g.16006587G= | CA1440916670 | PROM1 | c.1405C= (p.Pro469=) c.*1088C= (n.*1088C=) c.1378C= (p.Pro460=) c.1463C= c.1171C= (p.Pro391=) c.1198C= (p.Pro400=) c.1132C= (p.Pro378=) | |
| 4 | g.16006587G>T | CA2866781 | PROM1 | c.1405C>A (p.Pro469Thr) c.*1088C>A (n.*1088C>A) c.1378C>A (p.Pro460Thr) c.1463C>A c.1171C>A (p.Pro391Thr) c.1198C>A (p.Pro400Thr) c.1132C>A (p.Pro378Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006588G>A | CA438386834 | PROM1 | c.1404C>T (p.Thr468=) c.*1087C>T (n.*1087C>T) c.1377C>T (p.Thr459=) c.1462C>T c.1170C>T (p.Thr390=) c.1197C>T (p.Thr399=) c.1131C>T (p.Thr377=) | |
| 4 | g.16006588G>C | CA438386836 | PROM1 | c.1404C>G (p.Thr468=) c.*1087C>G (n.*1087C>G) c.1377C>G (p.Thr459=) c.1462C>G c.1170C>G (p.Thr390=) c.1197C>G (p.Thr399=) c.1131C>G (p.Thr377=) | |
| 4 | g.16006588G>T | CA438386838 | PROM1 | c.1404C>A (p.Thr468=) c.*1087C>A (n.*1087C>A) c.1377C>A (p.Thr459=) c.1462C>A c.1170C>A (p.Thr390=) c.1197C>A (p.Thr399=) c.1131C>A (p.Thr377=) | |
| 4 | g.16006589G>A | CA356435246 | PROM1 | c.1403C>T (p.Thr468Ile) c.*1086C>T (n.*1086C>T) c.1376C>T (p.Thr459Ile) c.1461C>T c.1169C>T (p.Thr390Ile) c.1196C>T (p.Thr399Ile) c.1130C>T (p.Thr377Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006589G>C | CA356435245 | PROM1 | c.1403C>G (p.Thr468Ser) c.*1086C>G (n.*1086C>G) c.1376C>G (p.Thr459Ser) c.1461C>G c.1169C>G (p.Thr390Ser) c.1196C>G (p.Thr399Ser) c.1130C>G (p.Thr377Ser) | |
| 4 | g.16006589G= | CA1440916671 | PROM1 | c.1403C= (p.Thr468=) c.*1086C= (n.*1086C=) c.1376C= (p.Thr459=) c.1461C= c.1169C= (p.Thr390=) c.1196C= (p.Thr399=) c.1130C= (p.Thr377=) | |
| 4 | g.16006589G>T | CA92594498 | PROM1 | c.1403C>A (p.Thr468Asn) c.*1086C>A (n.*1086C>A) c.1376C>A (p.Thr459Asn) c.1461C>A c.1169C>A (p.Thr390Asn) c.1196C>A (p.Thr399Asn) c.1130C>A (p.Thr377Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006590T>A | CA356435248 | PROM1 | c.1402A>T (p.Thr468Ser) c.*1085A>T (n.*1085A>T) c.1375A>T (p.Thr459Ser) c.1460A>T c.1168A>T (p.Thr390Ser) c.1195A>T (p.Thr399Ser) c.1129A>T (p.Thr377Ser) | |
| 4 | g.16006590T>C | CA356435250 | PROM1 | c.1402A>G (p.Thr468Ala) c.*1085A>G (n.*1085A>G) c.1375A>G (p.Thr459Ala) c.1460A>G c.1168A>G (p.Thr390Ala) c.1195A>G (p.Thr399Ala) c.1129A>G (p.Thr377Ala) | |
| 4 | g.16006590T>G | CA356435252 | PROM1 | c.1402A>C (p.Thr468Pro) c.*1085A>C (n.*1085A>C) c.1375A>C (p.Thr459Pro) c.1460A>C c.1168A>C (p.Thr390Pro) c.1195A>C (p.Thr399Pro) c.1129A>C (p.Thr377Pro) | dbSNP |
| 4 | g.16006590T= | CA1440916672 | PROM1 | c.1402A= (p.Thr468=) c.*1085A= (n.*1085A=) c.1375A= (p.Thr459=) c.1460A= c.1168A= (p.Thr390=) c.1195A= (p.Thr399=) c.1129A= (p.Thr377=) | |
| 4 | g.16006591G>A | CA438386843 | PROM1 | c.1401C>T (p.Ala467=) c.*1084C>T (n.*1084C>T) c.1374C>T (p.Ala458=) c.1459C>T c.1167C>T (p.Ala389=) c.1194C>T (p.Ala398=) c.1128C>T (p.Ala376=) | dbSNP gnomAD v4 |
| 4 | g.16006591G>C | CA438386842 | PROM1 | c.1401C>G (p.Ala467=) c.*1084C>G (n.*1084C>G) c.1374C>G (p.Ala458=) c.1459C>G c.1167C>G (p.Ala389=) c.1194C>G (p.Ala398=) c.1128C>G (p.Ala376=) | |
| 4 | g.16006591G= | CA1440916673 | PROM1 | c.1401C= (p.Ala467=) c.*1084C= (n.*1084C=) c.1374C= (p.Ala458=) c.1459C= c.1167C= (p.Ala389=) c.1194C= (p.Ala398=) c.1128C= (p.Ala376=) | |
| 4 | g.16006591G>T | CA438386841 | PROM1 | c.1401C>A (p.Ala467=) c.*1084C>A (n.*1084C>A) c.1374C>A (p.Ala458=) c.1459C>A c.1167C>A (p.Ala389=) c.1194C>A (p.Ala398=) c.1128C>A (p.Ala376=) | |
| 4 | g.16006592G>A | CA356435254 | PROM1 | c.1400C>T (p.Ala467Val) c.*1083C>T (n.*1083C>T) c.1373C>T (p.Ala458Val) c.1458C>T c.1166C>T (p.Ala389Val) c.1193C>T (p.Ala398Val) c.1127C>T (p.Ala376Val) | gnomAD v4 |
| 4 | g.16006592G>C | CA356435256 | PROM1 | c.1400C>G (p.Ala467Gly) c.*1083C>G (n.*1083C>G) c.1373C>G (p.Ala458Gly) c.1458C>G c.1166C>G (p.Ala389Gly) c.1193C>G (p.Ala398Gly) c.1127C>G (p.Ala376Gly) | |
| 4 | g.16006592G>T | CA356435257 | PROM1 | c.1400C>A (p.Ala467Asp) c.*1083C>A (n.*1083C>A) c.1373C>A (p.Ala458Asp) c.1458C>A c.1166C>A (p.Ala389Asp) c.1193C>A (p.Ala398Asp) c.1127C>A (p.Ala376Asp) | |
| 4 | g.16006593C>A | CA356435259 | PROM1 | c.1399G>T (p.Ala467Ser) c.*1082G>T (n.*1082G>T) c.1372G>T (p.Ala458Ser) c.1457G>T c.1165G>T (p.Ala389Ser) c.1192G>T (p.Ala398Ser) c.1126G>T (p.Ala376Ser) | |
| 4 | g.16006593C>G | CA356435260 | PROM1 | c.1399G>C (p.Ala467Pro) c.*1082G>C (n.*1082G>C) c.1372G>C (p.Ala458Pro) c.1457G>C c.1165G>C (p.Ala389Pro) c.1192G>C (p.Ala398Pro) c.1126G>C (p.Ala376Pro) | |
| 4 | g.16006593C>T | CA356435262 | PROM1 | c.1399G>A (p.Ala467Thr) c.*1082G>A (n.*1082G>A) c.1372G>A (p.Ala458Thr) c.1457G>A c.1165G>A (p.Ala389Thr) c.1192G>A (p.Ala398Thr) c.1126G>A (p.Ala376Thr) | gnomAD v4 COSMIC COSMIC |
| 4 | g.16006594A>C | CA356435264 | PROM1 | c.1398T>G (p.His466Gln) c.*1081T>G (n.*1081T>G) c.1371T>G (p.His457Gln) c.1456T>G c.1164T>G (p.His388Gln) c.1191T>G (p.His397Gln) c.1125T>G (p.His375Gln) | |
| 4 | g.16006594A>G | CA438386847 | PROM1 | c.1398T>C (p.His466=) c.*1081T>C (n.*1081T>C) c.1371T>C (p.His457=) c.1456T>C c.1164T>C (p.His388=) c.1191T>C (p.His397=) c.1125T>C (p.His375=) | |
| 4 | g.16006594A>T | CA356435266 | PROM1 | c.1398T>A (p.His466Gln) c.*1081T>A (n.*1081T>A) c.1371T>A (p.His457Gln) c.1456T>A c.1164T>A (p.His388Gln) c.1191T>A (p.His397Gln) c.1125T>A (p.His375Gln) | |
| 4 | g.16006595T>A | CA356435269 | PROM1 | c.1397A>T (p.His466Leu) c.*1080A>T (n.*1080A>T) c.1370A>T (p.His457Leu) c.1455A>T c.1163A>T (p.His388Leu) c.1190A>T (p.His397Leu) c.1124A>T (p.His375Leu) | |
| 4 | g.16006595T>C | CA356435271 | PROM1 | c.1397A>G (p.His466Arg) c.*1080A>G (n.*1080A>G) c.1370A>G (p.His457Arg) c.1455A>G c.1163A>G (p.His388Arg) c.1190A>G (p.His397Arg) c.1124A>G (p.His375Arg) | gnomAD v4 |
| 4 | g.16006595T>G | CA356435272 | PROM1 | c.1397A>C (p.His466Pro) c.*1080A>C (n.*1080A>C) c.1370A>C (p.His457Pro) c.1455A>C c.1163A>C (p.His388Pro) c.1190A>C (p.His397Pro) c.1124A>C (p.His375Pro) | |
| 4 | g.16006596G>A | CA356435276 | PROM1 | c.1396C>T (p.His466Tyr) c.*1079C>T (n.*1079C>T) c.1369C>T (p.His457Tyr) c.1454C>T c.1162C>T (p.His388Tyr) c.1189C>T (p.His397Tyr) c.1123C>T (p.His375Tyr) | dbSNP |
| 4 | g.16006596G>C | CA356435278 | PROM1 | c.1396C>G (p.His466Asp) c.*1079C>G (n.*1079C>G) c.1369C>G (p.His457Asp) c.1454C>G c.1162C>G (p.His388Asp) c.1189C>G (p.His397Asp) c.1123C>G (p.His375Asp) | |
| 4 | g.16006596G= | CA1440916674 | PROM1 | c.1396C= (p.His466=) c.*1079C= (n.*1079C=) c.1369C= (p.His457=) c.1454C= c.1162C= (p.His388=) c.1189C= (p.His397=) c.1123C= (p.His375=) | |
| 4 | g.16006596G>T | CA356435274 | PROM1 | c.1396C>A (p.His466Asn) c.*1079C>A (n.*1079C>A) c.1369C>A (p.His457Asn) c.1454C>A c.1162C>A (p.His388Asn) c.1189C>A (p.His397Asn) c.1123C>A (p.His375Asn) | |
| 4 | g.16006597C>A | CA356435280 | PROM1 | c.1395G>T (p.Arg465Ser) c.*1078G>T (n.*1078G>T) c.1368G>T (p.Arg456Ser) c.1453G>T c.1161G>T (p.Arg387Ser) c.1188G>T (p.Arg396Ser) c.1122G>T (p.Arg374Ser) | |
| 4 | g.16006597C= | CA1440916675 | PROM1 | c.1395G= (p.Arg465=) c.*1078G= (n.*1078G=) c.1368G= (p.Arg456=) c.1453G= c.1161G= (p.Arg387=) c.1188G= (p.Arg396=) c.1122G= (p.Arg374=) | |
| 4 | g.16006597C>G | CA356435282 | PROM1 | c.1395G>C (p.Arg465Ser) c.*1078G>C (n.*1078G>C) c.1368G>C (p.Arg456Ser) c.1453G>C c.1161G>C (p.Arg387Ser) c.1188G>C (p.Arg396Ser) c.1122G>C (p.Arg374Ser) | |
| 4 | g.16006597C>T | CA2866782 | PROM1 | c.1395G>A (p.Arg465=) c.*1078G>A (n.*1078G>A) c.1368G>A (p.Arg456=) c.1453G>A c.1161G>A (p.Arg387=) c.1188G>A (p.Arg396=) c.1122G>A (p.Arg374=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006598C>A | CA356435285 | PROM1 | c.1394G>T (p.Arg465Met) c.*1077G>T (n.*1077G>T) c.1367G>T (p.Arg456Met) c.1452G>T c.1160G>T (p.Arg387Met) c.1187G>T (p.Arg396Met) c.1121G>T (p.Arg374Met) | |
| 4 | g.16006598C= | CA1440916676 | PROM1 | c.1394G= (p.Arg465=) c.*1077G= (n.*1077G=) c.1367G= (p.Arg456=) c.1452G= c.1160G= (p.Arg387=) c.1187G= (p.Arg396=) c.1121G= (p.Arg374=) | |
| 4 | g.16006598C>G | CA356435291 | PROM1 | c.1394G>C (p.Arg465Thr) c.*1077G>C (n.*1077G>C) c.1367G>C (p.Arg456Thr) c.1452G>C c.1160G>C (p.Arg387Thr) c.1187G>C (p.Arg396Thr) c.1121G>C (p.Arg374Thr) | |
| 4 | g.16006598C>T | CA356435294 | PROM1 | c.1394G>A (p.Arg465Lys) c.*1077G>A (n.*1077G>A) c.1367G>A (p.Arg456Lys) c.1452G>A c.1160G>A (p.Arg387Lys) c.1187G>A (p.Arg396Lys) c.1121G>A (p.Arg374Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006599T>A | CA356435296 | PROM1 | c.1393A>T (p.Arg465Trp) c.*1076A>T (n.*1076A>T) c.1366A>T (p.Arg456Trp) c.1451A>T c.1159A>T (p.Arg387Trp) c.1186A>T (p.Arg396Trp) c.1120A>T (p.Arg374Trp) | |
| 4 | g.16006599T>C | CA356435302 | PROM1 | c.1393A>G (p.Arg465Gly) c.*1076A>G (n.*1076A>G) c.1366A>G (p.Arg456Gly) c.1451A>G c.1159A>G (p.Arg387Gly) c.1186A>G (p.Arg396Gly) c.1120A>G (p.Arg374Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006599T>G | CA438386852 | PROM1 | c.1393A>C (p.Arg465=) c.*1076A>C (n.*1076A>C) c.1366A>C (p.Arg456=) c.1451A>C c.1159A>C (p.Arg387=) c.1186A>C (p.Arg396=) c.1120A>C (p.Arg374=) | |
| 4 | g.16006599T= | CA1440916677 | PROM1 | c.1393A= (p.Arg465=) c.*1076A= (n.*1076A=) c.1366A= (p.Arg456=) c.1451A= c.1159A= (p.Arg387=) c.1186A= (p.Arg396=) c.1120A= (p.Arg374=) | |
| 4 | g.16006600G>A | CA438386853 | PROM1 | c.1392C>T (p.Asp464=) c.*1075C>T (n.*1075C>T) c.1365C>T (p.Asp455=) c.1450C>T c.1158C>T (p.Asp386=) c.1185C>T (p.Asp395=) c.1119C>T (p.Asp373=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006600G>C | CA356435303 | PROM1 | c.1392C>G (p.Asp464Glu) c.*1075C>G (n.*1075C>G) c.1365C>G (p.Asp455Glu) c.1450C>G c.1158C>G (p.Asp386Glu) c.1185C>G (p.Asp395Glu) c.1119C>G (p.Asp373Glu) | |
| 4 | g.16006600G= | CA1440916678 | PROM1 | c.1392C= (p.Asp464=) c.*1075C= (n.*1075C=) c.1365C= (p.Asp455=) c.1450C= c.1158C= (p.Asp386=) c.1185C= (p.Asp395=) c.1119C= (p.Asp373=) | |
| 4 | g.16006600G>T | CA356435305 | PROM1 | c.1392C>A (p.Asp464Glu) c.*1075C>A (n.*1075C>A) c.1365C>A (p.Asp455Glu) c.1450C>A c.1158C>A (p.Asp386Glu) c.1185C>A (p.Asp395Glu) c.1119C>A (p.Asp373Glu) | gnomAD v4 |
| 4 | g.16006601T>A | CA356435311 | PROM1 | c.1391A>T (p.Asp464Val) c.*1074A>T (n.*1074A>T) c.1364A>T (p.Asp455Val) c.1449A>T c.1157A>T (p.Asp386Val) c.1184A>T (p.Asp395Val) c.1118A>T (p.Asp373Val) | |
| 4 | g.16006601T>C | CA356435313 | PROM1 | c.1391A>G (p.Asp464Gly) c.*1074A>G (n.*1074A>G) c.1364A>G (p.Asp455Gly) c.1449A>G c.1157A>G (p.Asp386Gly) c.1184A>G (p.Asp395Gly) c.1118A>G (p.Asp373Gly) | |
| 4 | g.16006601T>G | CA356435317 | PROM1 | c.1391A>C (p.Asp464Ala) c.*1074A>C (n.*1074A>C) c.1364A>C (p.Asp455Ala) c.1449A>C c.1157A>C (p.Asp386Ala) c.1184A>C (p.Asp395Ala) c.1118A>C (p.Asp373Ala) | |
| 4 | g.16006602C>A | CA356435323 | PROM1 | c.1390G>T (p.Asp464Tyr) c.*1073G>T (n.*1073G>T) c.1363G>T (p.Asp455Tyr) c.1448G>T c.1156G>T (p.Asp386Tyr) c.1183G>T (p.Asp395Tyr) c.1117G>T (p.Asp373Tyr) | |
| 4 | g.16006602C>G | CA356435320 | PROM1 | c.1390G>C (p.Asp464His) c.*1073G>C (n.*1073G>C) c.1363G>C (p.Asp455His) c.1448G>C c.1156G>C (p.Asp386His) c.1183G>C (p.Asp395His) c.1117G>C (p.Asp373His) | |
| 4 | g.16006602C>T | CA356435322 | PROM1 | c.1390G>A (p.Asp464Asn) c.*1073G>A (n.*1073G>A) c.1363G>A (p.Asp455Asn) c.1448G>A c.1156G>A (p.Asp386Asn) c.1183G>A (p.Asp395Asn) c.1117G>A (p.Asp373Asn) | |
| 4 | g.16006603A= | CA1440916679 | PROM1 | c.1389T= (p.Tyr463=) c.*1072T= (n.*1072T=) c.1362T= (p.Tyr454=) c.1447T= c.1155T= (p.Tyr385=) c.1182T= (p.Tyr394=) c.1116T= (p.Tyr372=) | |
| 4 | g.16006603A>C | CA356435324 | PROM1 | c.1389T>G (p.Tyr463Ter) c.*1072T>G (n.*1072T>G) c.1362T>G (p.Tyr454Ter) c.1447T>G c.1155T>G (p.Tyr385Ter) c.1182T>G (p.Tyr394Ter) c.1116T>G (p.Tyr372Ter) | |
| 4 | g.16006603A>G | CA438386854 | PROM1 | c.1389T>C (p.Tyr463=) c.*1072T>C (n.*1072T>C) c.1362T>C (p.Tyr454=) c.1447T>C c.1155T>C (p.Tyr385=) c.1182T>C (p.Tyr394=) c.1116T>C (p.Tyr372=) | gnomAD v4 |
| 4 | g.16006603A>T | CA2866783 | PROM1 | c.1389T>A (p.Tyr463Ter) c.*1072T>A (n.*1072T>A) c.1362T>A (p.Tyr454Ter) c.1447T>A c.1155T>A (p.Tyr385Ter) c.1182T>A (p.Tyr394Ter) c.1116T>A (p.Tyr372Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006604T>A | CA356435325 | PROM1 | c.1388A>T (p.Tyr463Phe) c.*1071A>T (n.*1071A>T) c.1361A>T (p.Tyr454Phe) c.1446A>T c.1154A>T (p.Tyr385Phe) c.1181A>T (p.Tyr394Phe) c.1115A>T (p.Tyr372Phe) | |
| 4 | g.16006604T>C | CA2866784 | PROM1 | c.1388A>G (p.Tyr463Cys) c.*1071A>G (n.*1071A>G) c.1361A>G (p.Tyr454Cys) c.1446A>G c.1154A>G (p.Tyr385Cys) c.1181A>G (p.Tyr394Cys) c.1115A>G (p.Tyr372Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006604T>G | CA356435326 | PROM1 | c.1388A>C (p.Tyr463Ser) c.*1071A>C (n.*1071A>C) c.1361A>C (p.Tyr454Ser) c.1446A>C c.1154A>C (p.Tyr385Ser) c.1181A>C (p.Tyr394Ser) c.1115A>C (p.Tyr372Ser) | |
| 4 | g.16006604T= | CA1440916680 | PROM1 | c.1388A= (p.Tyr463=) c.*1071A= (n.*1071A=) c.1361A= (p.Tyr454=) c.1446A= c.1154A= (p.Tyr385=) c.1181A= (p.Tyr394=) c.1115A= (p.Tyr372=) | |
| 4 | g.16006605A= | CA1440916681 | PROM1 | c.1387T= (p.Tyr463=) c.*1070T= (n.*1070T=) c.1360T= (p.Tyr454=) c.1445T= c.1153T= (p.Tyr385=) c.1180T= (p.Tyr394=) c.1114T= (p.Tyr372=) | |
| 4 | g.16006605A>C | CA356435327 | PROM1 | c.1387T>G (p.Tyr463Asp) c.*1070T>G (n.*1070T>G) c.1360T>G (p.Tyr454Asp) c.1445T>G c.1153T>G (p.Tyr385Asp) c.1180T>G (p.Tyr394Asp) c.1114T>G (p.Tyr372Asp) | |
| 4 | g.16006605A>G | CA356435328 | PROM1 | c.1387T>C (p.Tyr463His) c.*1070T>C (n.*1070T>C) c.1360T>C (p.Tyr454His) c.1445T>C c.1153T>C (p.Tyr385His) c.1180T>C (p.Tyr394His) c.1114T>C (p.Tyr372His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006605A>T | CA356435329 | PROM1 | c.1387T>A (p.Tyr463Asn) c.*1070T>A (n.*1070T>A) c.1360T>A (p.Tyr454Asn) c.1445T>A c.1153T>A (p.Tyr385Asn) c.1180T>A (p.Tyr394Asn) c.1114T>A (p.Tyr372Asn) | |
| 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.16006606G>A | CA2866785 | PROM1 | c.1386C>T (p.Gly462=) c.*1069C>T (n.*1069C>T) c.1359C>T (p.Gly453=) c.1444C>T c.1152C>T (p.Gly384=) c.1179C>T (p.Gly393=) c.1113C>T (p.Gly371=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006606G>C | CA438386856 | PROM1 | c.1386C>G (p.Gly462=) c.*1069C>G (n.*1069C>G) c.1359C>G (p.Gly453=) c.1444C>G c.1152C>G (p.Gly384=) c.1179C>G (p.Gly393=) c.1113C>G (p.Gly371=) | |
| 4 | g.16006606G= | CA1440916682 | PROM1 | c.1386C= (p.Gly462=) c.*1069C= (n.*1069C=) c.1359C= (p.Gly453=) c.1444C= c.1152C= (p.Gly384=) c.1179C= (p.Gly393=) c.1113C= (p.Gly371=) | |
| 4 | g.16006606G>T | CA438386857 | PROM1 | c.1386C>A (p.Gly462=) c.*1069C>A (n.*1069C>A) c.1359C>A (p.Gly453=) c.1444C>A c.1152C>A (p.Gly384=) c.1179C>A (p.Gly393=) c.1113C>A (p.Gly371=) | |
| 4 | g.16006607C>A | CA356435332 | PROM1 | c.1385G>T (p.Gly462Val) c.*1068G>T (n.*1068G>T) c.1358G>T (p.Gly453Val) c.1443G>T c.1151G>T (p.Gly384Val) c.1178G>T (p.Gly393Val) c.1112G>T (p.Gly371Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006607C= | CA1440916683 | PROM1 | c.1385G= (p.Gly462=) c.*1068G= (n.*1068G=) c.1358G= (p.Gly453=) c.1443G= c.1151G= (p.Gly384=) c.1178G= (p.Gly393=) c.1112G= (p.Gly371=) | |
| 4 | g.16006607C>G | CA356435333 | PROM1 | c.1385G>C (p.Gly462Ala) c.*1068G>C (n.*1068G>C) c.1358G>C (p.Gly453Ala) c.1443G>C c.1151G>C (p.Gly384Ala) c.1178G>C (p.Gly393Ala) c.1112G>C (p.Gly371Ala) | |
| 4 | g.16006607C>T | CA356435334 | PROM1 | c.1385G>A (p.Gly462Asp) c.*1068G>A (n.*1068G>A) c.1358G>A (p.Gly453Asp) c.1443G>A c.1151G>A (p.Gly384Asp) c.1178G>A (p.Gly393Asp) c.1112G>A (p.Gly371Asp) | gnomAD v4 |
| 4 | g.16006608C>A | CA356435337 | PROM1 | c.1384G>T (p.Gly462Cys) c.*1067G>T (n.*1067G>T) c.1357G>T (p.Gly453Cys) c.1442G>T c.1150G>T (p.Gly384Cys) c.1177G>T (p.Gly393Cys) c.1111G>T (p.Gly371Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006608C= | CA1440916684 | PROM1 | c.1384G= (p.Gly462=) c.*1067G= (n.*1067G=) c.1357G= (p.Gly453=) c.1442G= c.1150G= (p.Gly384=) c.1177G= (p.Gly393=) c.1111G= (p.Gly371=) | |
| 4 | g.16006608C>G | CA356435335 | PROM1 | c.1384G>C (p.Gly462Arg) c.*1067G>C (n.*1067G>C) c.1357G>C (p.Gly453Arg) c.1442G>C c.1150G>C (p.Gly384Arg) c.1177G>C (p.Gly393Arg) c.1111G>C (p.Gly371Arg) | |
| 4 | g.16006608C>T | CA2866786 | PROM1 | c.1384G>A (p.Gly462Ser) c.*1067G>A (n.*1067G>A) c.1357G>A (p.Gly453Ser) c.1442G>A c.1150G>A (p.Gly384Ser) c.1177G>A (p.Gly393Ser) c.1111G>A (p.Gly371Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006609G>A | CA2866787 | PROM1 | c.1383C>T (p.Cys461=) c.*1066C>T (n.*1066C>T) c.1356C>T (p.Cys452=) c.1441C>T c.1149C>T (p.Cys383=) c.1176C>T (p.Cys392=) c.1110C>T (p.Cys370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006609G>C | CA356435342 | PROM1 | c.1383C>G (p.Cys461Trp) c.*1066C>G (n.*1066C>G) c.1356C>G (p.Cys452Trp) c.1441C>G c.1149C>G (p.Cys383Trp) c.1176C>G (p.Cys392Trp) c.1110C>G (p.Cys370Trp) | |
| 4 | g.16006609G= | CA1440916685 | PROM1 | c.1383C= (p.Cys461=) c.*1066C= (n.*1066C=) c.1356C= (p.Cys452=) c.1441C= c.1149C= (p.Cys383=) c.1176C= (p.Cys392=) c.1110C= (p.Cys370=) | |
| 4 | g.16006609G>T | CA356435340 | PROM1 | c.1383C>A (p.Cys461Ter) c.*1066C>A (n.*1066C>A) c.1356C>A (p.Cys452Ter) c.1441C>A c.1149C>A (p.Cys383Ter) c.1176C>A (p.Cys392Ter) c.1110C>A (p.Cys370Ter) | |
| 4 | g.16006610C>A | CA356435344 | PROM1 | c.1382G>T (p.Cys461Phe) c.*1065G>T (n.*1065G>T) c.1355G>T (p.Cys452Phe) c.1440G>T c.1148G>T (p.Cys383Phe) c.1175G>T (p.Cys392Phe) c.1109G>T (p.Cys370Phe) | |
| 4 | g.16006610C>G | CA356435346 | PROM1 | c.1382G>C (p.Cys461Ser) c.*1065G>C (n.*1065G>C) c.1355G>C (p.Cys452Ser) c.1440G>C c.1148G>C (p.Cys383Ser) c.1175G>C (p.Cys392Ser) c.1109G>C (p.Cys370Ser) | |
| 4 | g.16006610C>T | CA356435348 | PROM1 | c.1382G>A (p.Cys461Tyr) c.*1065G>A (n.*1065G>A) c.1355G>A (p.Cys452Tyr) c.1440G>A c.1148G>A (p.Cys383Tyr) c.1175G>A (p.Cys392Tyr) c.1109G>A (p.Cys370Tyr) | |
| 4 | g.16006611A>C | CA356435349 | PROM1 | c.1381T>G (p.Cys461Gly) c.*1064T>G (n.*1064T>G) c.1354T>G (p.Cys452Gly) c.1439T>G c.1147T>G (p.Cys383Gly) c.1174T>G (p.Cys392Gly) c.1108T>G (p.Cys370Gly) | |
| 4 | g.16006611A>G | CA356435351 | PROM1 | c.1381T>C (p.Cys461Arg) c.*1064T>C (n.*1064T>C) c.1354T>C (p.Cys452Arg) c.1439T>C c.1147T>C (p.Cys383Arg) c.1174T>C (p.Cys392Arg) c.1108T>C (p.Cys370Arg) | gnomAD v4 |
| 4 | g.16006611A>T | CA356435353 | PROM1 | c.1381T>A (p.Cys461Ser) c.*1064T>A (n.*1064T>A) c.1354T>A (p.Cys452Ser) c.1439T>A c.1147T>A (p.Cys383Ser) c.1174T>A (p.Cys392Ser) c.1108T>A (p.Cys370Ser) | |
| 4 | g.16006612C>A | CA438386865 | PROM1 | c.1380G>T (p.Val460=) c.*1063G>T (n.*1063G>T) c.1353G>T (p.Val451=) c.1438G>T c.1146G>T (p.Val382=) c.1173G>T (p.Val391=) c.1107G>T (p.Val369=) | |
| 4 | g.16006612C= | CA1440916686 | PROM1 | c.1380G= (p.Val460=) c.*1063G= (n.*1063G=) c.1353G= (p.Val451=) c.1438G= c.1146G= (p.Val382=) c.1173G= (p.Val391=) c.1107G= (p.Val369=) | |
| 4 | g.16006612C>G | CA92594539 | PROM1 | c.1380G>C (p.Val460=) c.*1063G>C (n.*1063G>C) c.1353G>C (p.Val451=) c.1438G>C c.1146G>C (p.Val382=) c.1173G>C (p.Val391=) c.1107G>C (p.Val369=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006612C>T | CA438386864 | PROM1 | c.1380G>A (p.Val460=) c.*1063G>A (n.*1063G>A) c.1353G>A (p.Val451=) c.1438G>A c.1146G>A (p.Val382=) c.1173G>A (p.Val391=) c.1107G>A (p.Val369=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006613A>C | CA356435354 | PROM1 | c.1379T>G (p.Val460Gly) c.*1062T>G (n.*1062T>G) c.1352T>G (p.Val451Gly) c.1437T>G c.1145T>G (p.Val382Gly) c.1172T>G (p.Val391Gly) c.1106T>G (p.Val369Gly) | |
| 4 | g.16006613A>G | CA356435355 | PROM1 | c.1379T>C (p.Val460Ala) c.*1062T>C (n.*1062T>C) c.1352T>C (p.Val451Ala) c.1437T>C c.1145T>C (p.Val382Ala) c.1172T>C (p.Val391Ala) c.1106T>C (p.Val369Ala) | gnomAD v4 |
| 4 | g.16006613A>T | CA356435356 | PROM1 | c.1379T>A (p.Val460Glu) c.*1062T>A (n.*1062T>A) c.1352T>A (p.Val451Glu) c.1437T>A c.1145T>A (p.Val382Glu) c.1172T>A (p.Val391Glu) c.1106T>A (p.Val369Glu) | |
| 4 | g.16006614C>A | CA356435357 | PROM1 | c.1378G>T (p.Val460Leu) c.*1061G>T (n.*1061G>T) c.1351G>T (p.Val451Leu) c.1436G>T c.1144G>T (p.Val382Leu) c.1171G>T (p.Val391Leu) c.1105G>T (p.Val369Leu) | |
| 4 | g.16006614C= | CA1440916687 | PROM1 | c.1378G= (p.Val460=) c.*1061G= (n.*1061G=) c.1351G= (p.Val451=) c.1436G= c.1144G= (p.Val382=) c.1171G= (p.Val391=) c.1105G= (p.Val369=) | |
| 4 | g.16006614C>G | CA356435359 | PROM1 | c.1378G>C (p.Val460Leu) c.*1061G>C (n.*1061G>C) c.1351G>C (p.Val451Leu) c.1436G>C c.1144G>C (p.Val382Leu) c.1171G>C (p.Val391Leu) c.1105G>C (p.Val369Leu) | |
| 4 | g.16006614C>T | CA2866788 | PROM1 | c.1378G>A (p.Val460Met) c.*1061G>A (n.*1061G>A) c.1351G>A (p.Val451Met) c.1436G>A c.1144G>A (p.Val382Met) c.1171G>A (p.Val391Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006615G>A | CA2866789 | PROM1 | c.1377C>T (p.Gly459=) c.*1060C>T (n.*1060C>T) c.1350C>T (p.Gly450=) c.1435C>T c.1143C>T (p.Gly381=) c.1170C>T (p.Gly390=) c.1104C>T (p.Gly368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16006615G>C | CA438386870 | PROM1 | c.1377C>G (p.Gly459=) c.*1060C>G (n.*1060C>G) c.1350C>G (p.Gly450=) c.1435C>G c.1143C>G (p.Gly381=) c.1170C>G (p.Gly390=) c.1104C>G (p.Gly368=) | |
| 4 | g.16006615G= | CA1440916688 | PROM1 | c.1377C= (p.Gly459=) c.*1060C= (n.*1060C=) c.1350C= (p.Gly450=) c.1435C= c.1143C= (p.Gly381=) c.1170C= (p.Gly390=) c.1104C= (p.Gly368=) | |
| 4 | g.16006615G>T | CA438386871 | PROM1 | c.1377C>A (p.Gly459=) c.*1060C>A (n.*1060C>A) c.1350C>A (p.Gly450=) c.1435C>A c.1143C>A (p.Gly381=) c.1170C>A (p.Gly390=) c.1104C>A (p.Gly368=) | dbSNP |
| 4 | g.16006616C>A | CA356435362 | PROM1 | c.1376G>T (p.Gly459Val) c.*1059G>T (n.*1059G>T) c.1349G>T (p.Gly450Val) c.1434G>T c.1142G>T (p.Gly381Val) c.1169G>T (p.Gly390Val) c.1103G>T (p.Gly368Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006616C= | CA1440916689 | PROM1 | c.1376G= (p.Gly459=) c.*1059G= (n.*1059G=) c.1349G= (p.Gly450=) c.1434G= c.1142G= (p.Gly381=) c.1169G= (p.Gly390=) c.1103G= (p.Gly368=) | |
| 4 | g.16006616C>G | CA356435365 | PROM1 | c.1376G>C (p.Gly459Ala) c.*1059G>C (n.*1059G>C) c.1349G>C (p.Gly450Ala) c.1434G>C c.1142G>C (p.Gly381Ala) c.1169G>C (p.Gly390Ala) c.1103G>C (p.Gly368Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006616C>T | CA356435363 | PROM1 | c.1376G>A (p.Gly459Asp) c.*1059G>A (n.*1059G>A) c.1349G>A (p.Gly450Asp) c.1434G>A c.1142G>A (p.Gly381Asp) c.1169G>A (p.Gly390Asp) c.1103G>A (p.Gly368Asp) | |
| 4 | g.16006617C>A | CA356435367 | PROM1 | c.1375G>T (p.Gly459Cys) c.*1058G>T (n.*1058G>T) c.1348G>T (p.Gly450Cys) c.1433G>T c.1141G>T (p.Gly381Cys) c.1168G>T (p.Gly390Cys) c.1102G>T (p.Gly368Cys) | |
| 4 | g.16006617C>G | CA356435369 | PROM1 | c.1375G>C (p.Gly459Arg) c.*1058G>C (n.*1058G>C) c.1348G>C (p.Gly450Arg) c.1433G>C c.1141G>C (p.Gly381Arg) c.1168G>C (p.Gly390Arg) c.1102G>C (p.Gly368Arg) | |
| 4 | g.16006617C>T | CA356435370 | PROM1 | c.1375G>A (p.Gly459Ser) c.*1058G>A (n.*1058G>A) c.1348G>A (p.Gly450Ser) c.1433G>A c.1141G>A (p.Gly381Ser) c.1168G>A (p.Gly390Ser) c.1102G>A (p.Gly368Ser) | |
| 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 |