| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16006544A>C | CA356435049 | PROM1 | c.1448T>G (p.Leu483Arg) c.*1131T>G (n.*1131T>G) c.1421T>G (p.Leu474Arg) c.1506T>G c.1214T>G (p.Leu405Arg) c.1241T>G (p.Leu414Arg) c.1175T>G (p.Leu392Arg) | |
| 4 | g.16006544A>G | CA356435051 | PROM1 | c.1448T>C (p.Leu483Pro) c.*1131T>C (n.*1131T>C) c.1421T>C (p.Leu474Pro) c.1506T>C c.1214T>C (p.Leu405Pro) c.1241T>C (p.Leu414Pro) c.1175T>C (p.Leu392Pro) | |
| 4 | g.16006544A>T | CA356435053 | PROM1 | c.1448T>A (p.Leu483His) c.*1131T>A (n.*1131T>A) c.1421T>A (p.Leu474His) c.1506T>A c.1214T>A (p.Leu405His) c.1241T>A (p.Leu414His) c.1175T>A (p.Leu392His) | |
| 4 | g.16006545G>A | CA356435058 | PROM1 | c.1447C>T (p.Leu483Phe) c.*1130C>T (n.*1130C>T) c.1420C>T (p.Leu474Phe) c.1505C>T c.1213C>T (p.Leu405Phe) c.1240C>T (p.Leu414Phe) c.1174C>T (p.Leu392Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006545G>C | CA356435060 | PROM1 | c.1447C>G (p.Leu483Val) c.*1130C>G (n.*1130C>G) c.1420C>G (p.Leu474Val) c.1505C>G c.1213C>G (p.Leu405Val) c.1240C>G (p.Leu414Val) c.1174C>G (p.Leu392Val) | gnomAD v4 |
| 4 | g.16006545G= | CA1440916645 | PROM1 | c.1447C= (p.Leu483=) c.*1130C= (n.*1130C=) c.1420C= (p.Leu474=) c.1505C= c.1213C= (p.Leu405=) c.1240C= (p.Leu414=) c.1174C= (p.Leu392=) | |
| 4 | g.16006545G>T | CA356435056 | PROM1 | c.1447C>A (p.Leu483Ile) c.*1130C>A (n.*1130C>A) c.1420C>A (p.Leu474Ile) c.1505C>A c.1213C>A (p.Leu405Ile) c.1240C>A (p.Leu414Ile) c.1174C>A (p.Leu392Ile) | |
| 4 | g.16006546G>A | CA438386776 | PROM1 | c.1446C>T (p.Phe482=) c.*1129C>T (n.*1129C>T) c.1419C>T (p.Phe473=) c.1504C>T c.1212C>T (p.Phe404=) c.1239C>T (p.Phe413=) c.1173C>T (p.Phe391=) | COSMIC COSMIC |
| 4 | g.16006546G>C | CA356435062 | PROM1 | c.1446C>G (p.Phe482Leu) c.*1129C>G (n.*1129C>G) c.1419C>G (p.Phe473Leu) c.1504C>G c.1212C>G (p.Phe404Leu) c.1239C>G (p.Phe413Leu) c.1173C>G (p.Phe391Leu) | gnomAD v4 |
| 4 | g.16006546G>T | CA356435064 | PROM1 | c.1446C>A (p.Phe482Leu) c.*1129C>A (n.*1129C>A) c.1419C>A (p.Phe473Leu) c.1504C>A c.1212C>A (p.Phe404Leu) c.1239C>A (p.Phe413Leu) c.1173C>A (p.Phe391Leu) | |
| 4 | g.16006547A= | CA1440916647 | PROM1 | c.1445T= (p.Phe482=) c.*1128T= (n.*1128T=) c.1418T= (p.Phe473=) c.1503T= c.1211T= (p.Phe404=) c.1238T= (p.Phe413=) c.1172T= (p.Phe391=) | |
| 4 | g.16006547A>C | CA92594396 | PROM1 | c.1445T>G (p.Phe482Cys) c.*1128T>G (n.*1128T>G) c.1418T>G (p.Phe473Cys) c.1503T>G c.1211T>G (p.Phe404Cys) c.1238T>G (p.Phe413Cys) c.1172T>G (p.Phe391Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16006547A>G | CA356435068 | PROM1 | c.1445T>C (p.Phe482Ser) c.*1128T>C (n.*1128T>C) c.1418T>C (p.Phe473Ser) c.1503T>C c.1211T>C (p.Phe404Ser) c.1238T>C (p.Phe413Ser) c.1172T>C (p.Phe391Ser) | gnomAD v4 |
| 4 | g.16006547A>T | CA356435071 | PROM1 | c.1445T>A (p.Phe482Tyr) c.*1128T>A (n.*1128T>A) c.1418T>A (p.Phe473Tyr) c.1503T>A c.1211T>A (p.Phe404Tyr) c.1238T>A (p.Phe413Tyr) c.1172T>A (p.Phe391Tyr) | |
| 4 | g.16006548dup | CA2586973706 | PROM1 | c.1445dup (p.Leu483ProfsTer?) c.*1128dup (n.*1128dup) c.1418dup (p.Leu474ProfsTer?) c.1503dup c.1211dup (p.Leu405ProfsTer?) c.1238dup (p.Leu414ProfsTer?) c.1172dup (p.Leu392ProfsTer?) | |
| 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.16006548A= | CA1440916648 | PROM1 | c.1444T= (p.Phe482=) c.*1127T= (n.*1127T=) c.1417T= (p.Phe473=) c.1502T= c.1210T= (p.Phe404=) c.1237T= (p.Phe413=) c.1171T= (p.Phe391=) | |
| 4 | g.16006548A>C | CA2866769 | PROM1 | c.1444T>G (p.Phe482Val) c.*1127T>G (n.*1127T>G) c.1417T>G (p.Phe473Val) c.1502T>G c.1210T>G (p.Phe404Val) c.1237T>G (p.Phe413Val) c.1171T>G (p.Phe391Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16006548A>G | CA356435073 | PROM1 | c.1444T>C (p.Phe482Leu) c.*1127T>C (n.*1127T>C) c.1417T>C (p.Phe473Leu) c.1502T>C c.1210T>C (p.Phe404Leu) c.1237T>C (p.Phe413Leu) c.1171T>C (p.Phe391Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16006548A>T | CA356435076 | PROM1 | c.1444T>A (p.Phe482Ile) c.*1127T>A (n.*1127T>A) c.1417T>A (p.Phe473Ile) c.1502T>A c.1210T>A (p.Phe404Ile) c.1237T>A (p.Phe413Ile) c.1171T>A (p.Phe391Ile) | gnomAD v4 |
| 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.16006549G>A | CA438386778 | PROM1 | c.1443C>T (p.Val481=) c.*1126C>T (n.*1126C>T) c.1416C>T (p.Val472=) c.1501C>T c.1209C>T (p.Val403=) c.1236C>T (p.Val412=) c.1170C>T (p.Val390=) | |
| 4 | g.16006549G>C | CA438386779 | PROM1 | c.1443C>G (p.Val481=) c.*1126C>G (n.*1126C>G) c.1416C>G (p.Val472=) c.1501C>G c.1209C>G (p.Val403=) c.1236C>G (p.Val412=) c.1170C>G (p.Val390=) | dbSNP |
| 4 | g.16006549G>T | CA438386780 | PROM1 | c.1443C>A (p.Val481=) c.*1126C>A (n.*1126C>A) c.1416C>A (p.Val472=) c.1501C>A c.1209C>A (p.Val403=) c.1236C>A (p.Val412=) c.1170C>A (p.Val390=) | |
| 4 | g.16006550A>C | CA356435079 | PROM1 | c.1442T>G (p.Val481Gly) c.*1125T>G (n.*1125T>G) c.1415T>G (p.Val472Gly) c.1500T>G c.1208T>G (p.Val403Gly) c.1235T>G (p.Val412Gly) c.1169T>G (p.Val390Gly) | |
| 4 | g.16006550A>G | CA356435081 | PROM1 | c.1442T>C (p.Val481Ala) c.*1125T>C (n.*1125T>C) c.1415T>C (p.Val472Ala) c.1500T>C c.1208T>C (p.Val403Ala) c.1235T>C (p.Val412Ala) c.1169T>C (p.Val390Ala) | |
| 4 | g.16006550A>T | CA356435083 | PROM1 | c.1442T>A (p.Val481Asp) c.*1125T>A (n.*1125T>A) c.1415T>A (p.Val472Asp) c.1500T>A c.1208T>A (p.Val403Asp) c.1235T>A (p.Val412Asp) c.1169T>A (p.Val390Asp) | |
| 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=) |