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 |
|---|---|---|---|---|---|
| 1 | g.244054891_244054892delinsAG | CA1230659886 | ZBTB18 | c.*294_*295delinsAG (n.*294_*295delinsAG) c.1090_1091delinsAG (p.Ser364=) c.*1047_*1048delinsAG (n.*1047_*1048delinsAG) c.1117_1118delinsAG (p.Ser373=) | |
| 1 | g.244054892del | CA10576133 | ZBTB18 | c.*295del (n.*295del) c.1091del (p.Ser364ThrfsTer26) c.*1048del (n.*1048del) c.1118del (p.Ser373ThrfsTer26) | ClinVar dbSNP |
| 1 | g.244054892G>A | CA345674412 | ZBTB18 | c.*295G>A (n.*295G>A) c.1091G>A (p.Ser364Asn) c.*1048G>A (n.*1048G>A) c.1118G>A (p.Ser373Asn) | |
| 1 | g.244054892G>C | CA1484400 | ZBTB18 | c.*295G>C (n.*295G>C) c.1091G>C (p.Ser364Thr) c.*1048G>C (n.*1048G>C) c.1118G>C (p.Ser373Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054892G= | CA1230659887 | ZBTB18 | c.*295G= (n.*295G=) c.1091G= (p.Ser364=) c.*1048G= (n.*1048G=) c.1118G= (p.Ser373=) | |
| 1 | g.244054892G>T | CA345674413 | ZBTB18 | c.*295G>T (n.*295G>T) c.1091G>T (p.Ser364Ile) c.*1048G>T (n.*1048G>T) c.1118G>T (p.Ser373Ile) | |
| 1 | g.244054893C>A | CA345674414 | ZBTB18 | c.*296C>A (n.*296C>A) c.1092C>A (p.Ser364Arg) c.*1049C>A (n.*1049C>A) c.1119C>A (p.Ser373Arg) | |
| 1 | g.244054893C= | CA1230659888 | ZBTB18 | c.*296C= (n.*296C=) c.1092C= (p.Ser364=) c.*1049C= (n.*1049C=) c.1119C= (p.Ser373=) | |
| 1 | g.244054893C>G | CA1484401 | ZBTB18 | c.*296C>G (n.*296C>G) c.1092C>G (p.Ser364Arg) c.*1049C>G (n.*1049C>G) c.1119C>G (p.Ser373Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054893C>T | CA424410623 | ZBTB18 | c.*296C>T (n.*296C>T) c.1092C>T (p.Ser364=) c.*1049C>T (n.*1049C>T) c.1119C>T (p.Ser373=) | dbSNP gnomAD v4 |
| 1 | g.244054894C>A | CA1484402 | ZBTB18 | c.*297C>A (n.*297C>A) c.1093C>A (p.Pro365Thr) c.*1050C>A (n.*1050C>A) c.1120C>A (p.Pro374Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054894C= | CA1230659889 | ZBTB18 | c.*297C= (n.*297C=) c.1093C= (p.Pro365=) c.*1050C= (n.*1050C=) c.1120C= (p.Pro374=) | |
| 1 | g.244054894C>G | CA345674415 | ZBTB18 | c.*297C>G (n.*297C>G) c.1093C>G (p.Pro365Ala) c.*1050C>G (n.*1050C>G) c.1120C>G (p.Pro374Ala) | |
| 1 | g.244054894C>T | CA345674416 | ZBTB18 | c.*297C>T (n.*297C>T) c.1093C>T (p.Pro365Ser) c.*1050C>T (n.*1050C>T) c.1120C>T (p.Pro374Ser) | |
| 1 | g.244054895C>A | CA345674417 | ZBTB18 | c.*298C>A (n.*298C>A) c.1094C>A (p.Pro365His) c.*1051C>A (n.*1051C>A) c.1121C>A (p.Pro374His) | |
| 1 | g.244054895C>G | CA345674418 | ZBTB18 | c.*298C>G (n.*298C>G) c.1094C>G (p.Pro365Arg) c.*1051C>G (n.*1051C>G) c.1121C>G (p.Pro374Arg) | |
| 1 | g.244054895C>T | CA345674419 | ZBTB18 | c.*298C>T (n.*298C>T) c.1094C>T (p.Pro365Leu) c.*1051C>T (n.*1051C>T) c.1121C>T (p.Pro374Leu) | |
| 1 | g.244054896C>A | CA424410634 | ZBTB18 | c.*299C>A (n.*299C>A) c.1095C>A (p.Pro365=) c.*1052C>A (n.*1052C>A) c.1122C>A (p.Pro374=) | gnomAD v4 |
| 1 | g.244054896C= | CA1230659890 | ZBTB18 | c.*299C= (n.*299C=) c.1095C= (p.Pro365=) c.*1052C= (n.*1052C=) c.1122C= (p.Pro374=) | |
| 1 | g.244054896C>G | CA424410636 | ZBTB18 | c.*299C>G (n.*299C>G) c.1095C>G (p.Pro365=) c.*1052C>G (n.*1052C>G) c.1122C>G (p.Pro374=) | |
| 1 | g.244054896C>T | CA1484403 | ZBTB18 | c.*299C>T (n.*299C>T) c.1095C>T (p.Pro365=) c.*1052C>T (n.*1052C>T) c.1122C>T (p.Pro374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054897G>A | CA1484404 | ZBTB18 | c.*300G>A (n.*300G>A) c.1096G>A (p.Ala366Thr) c.*1053G>A (n.*1053G>A) c.1123G>A (p.Ala375Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054897G>C | CA345674421 | ZBTB18 | c.*300G>C (n.*300G>C) c.1096G>C (p.Ala366Pro) c.*1053G>C (n.*1053G>C) c.1123G>C (p.Ala375Pro) | |
| 1 | g.244054897G= | CA1143805340 | ZBTB18 | c.*300G= (n.*300G=) c.1096G= (p.Ala366=) c.*1053G= (n.*1053G=) c.1123G= (p.Ala375=) | |
| 1 | g.244054897G>T | CA345674420 | ZBTB18 | c.*300G>T (n.*300G>T) c.1096G>T (p.Ala366Ser) c.*1053G>T (n.*1053G>T) c.1123G>T (p.Ala375Ser) | |
| 1 | g.244054898C>A | CA345674422 | ZBTB18 | c.*301C>A (n.*301C>A) c.1097C>A (p.Ala366Glu) c.*1054C>A (n.*1054C>A) c.1124C>A (p.Ala375Glu) | |
| 1 | g.244054898C= | CA1230659891 | ZBTB18 | c.*301C= (n.*301C=) c.1097C= (p.Ala366=) c.*1054C= (n.*1054C=) c.1124C= (p.Ala375=) | |
| 1 | g.244054898C>G | CA345674423 | ZBTB18 | c.*301C>G (n.*301C>G) c.1097C>G (p.Ala366Gly) c.*1054C>G (n.*1054C>G) c.1124C>G (p.Ala375Gly) | COSMIC COSMIC |
| 1 | g.244054898C>T | CA345674424 | ZBTB18 | c.*301C>T (n.*301C>T) c.1097C>T (p.Ala366Val) c.*1054C>T (n.*1054C>T) c.1124C>T (p.Ala375Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.244054899G>A | CA41081537 | ZBTB18 | c.*302G>A (n.*302G>A) c.1098G>A (p.Ala366=) c.*1055G>A (n.*1055G>A) c.1125G>A (p.Ala375=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054899G>C | CA424410642 | ZBTB18 | c.*302G>C (n.*302G>C) c.1098G>C (p.Ala366=) c.*1055G>C (n.*1055G>C) c.1125G>C (p.Ala375=) | |
| 1 | g.244054899G= | CA1143849479 | ZBTB18 | c.*302G= (n.*302G=) c.1098G= (p.Ala366=) c.*1055G= (n.*1055G=) c.1125G= (p.Ala375=) | |
| 1 | g.244054899G>T | CA424410640 | ZBTB18 | c.*302G>T (n.*302G>T) c.1098G>T (p.Ala366=) c.*1055G>T (n.*1055G>T) c.1125G>T (p.Ala375=) | |
| 1 | g.244054900G>A | CA1484405 | ZBTB18 | c.*303G>A (n.*303G>A) c.1099G>A (p.Gly367Ser) c.*1056G>A (n.*1056G>A) c.1126G>A (p.Gly376Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054900G>C | CA345674426 | ZBTB18 | c.*303G>C (n.*303G>C) c.1099G>C (p.Gly367Arg) c.*1056G>C (n.*1056G>C) c.1126G>C (p.Gly376Arg) | |
| 1 | g.244054900G= | CA1230659892 | ZBTB18 | c.*303G= (n.*303G=) c.1099G= (p.Gly367=) c.*1056G= (n.*1056G=) c.1126G= (p.Gly376=) | |
| 1 | g.244054900G>T | CA345674425 | ZBTB18 | c.*303G>T (n.*303G>T) c.1099G>T (p.Gly367Cys) c.*1056G>T (n.*1056G>T) c.1126G>T (p.Gly376Cys) | |
| 1 | g.244054901G>A | CA345674427 | ZBTB18 | c.*304G>A (n.*304G>A) c.1100G>A (p.Gly367Asp) c.*1057G>A (n.*1057G>A) c.1127G>A (p.Gly376Asp) | |
| 1 | g.244054901G>C | CA345674428 | ZBTB18 | c.*304G>C (n.*304G>C) c.1100G>C (p.Gly367Ala) c.*1057G>C (n.*1057G>C) c.1127G>C (p.Gly376Ala) | |
| 1 | g.244054901G>T | CA345674429 | ZBTB18 | c.*304G>T (n.*304G>T) c.1100G>T (p.Gly367Val) c.*1057G>T (n.*1057G>T) c.1127G>T (p.Gly376Val) | |
| 1 | g.244054902C>A | CA424410651 | ZBTB18 | c.*305C>A (n.*305C>A) c.1101C>A (p.Gly367=) c.*1058C>A (n.*1058C>A) c.1128C>A (p.Gly376=) | |
| 1 | g.244054902C>G | CA424410652 | ZBTB18 | c.*305C>G (n.*305C>G) c.1101C>G (p.Gly367=) c.*1058C>G (n.*1058C>G) c.1128C>G (p.Gly376=) | |
| 1 | g.244054902C>T | CA424410653 | ZBTB18 | c.*305C>T (n.*305C>T) c.1101C>T (p.Gly367=) c.*1058C>T (n.*1058C>T) c.1128C>T (p.Gly376=) | |
| 1 | g.244054903C>A | CA345674430 | ZBTB18 | c.*306C>A (n.*306C>A) c.1102C>A (p.Gln368Lys) c.*1059C>A (n.*1059C>A) c.1129C>A (p.Gln377Lys) | |
| 1 | g.244054903C>G | CA345674431 | ZBTB18 | c.*306C>G (n.*306C>G) c.1102C>G (p.Gln368Glu) c.*1059C>G (n.*1059C>G) c.1129C>G (p.Gln377Glu) | |
| 1 | g.244054903C>T | CA345674432 | ZBTB18 | c.*306C>T (n.*306C>T) c.1102C>T (p.Gln368Ter) c.*1059C>T (n.*1059C>T) c.1129C>T (p.Gln377Ter) | |
| 1 | g.244054904A>C | CA345674433 | ZBTB18 | c.*307A>C (n.*307A>C) c.1103A>C (p.Gln368Pro) c.*1060A>C (n.*1060A>C) c.1130A>C (p.Gln377Pro) | |
| 1 | g.244054904A>G | CA345674434 | ZBTB18 | c.*307A>G (n.*307A>G) c.1103A>G (p.Gln368Arg) c.*1060A>G (n.*1060A>G) c.1130A>G (p.Gln377Arg) | |
| 1 | g.244054904A>T | CA345674435 | ZBTB18 | c.*307A>T (n.*307A>T) c.1103A>T (p.Gln368Leu) c.*1060A>T (n.*1060A>T) c.1130A>T (p.Gln377Leu) | |
| 1 | g.244054905G>A | CA424410656 | ZBTB18 | c.*308G>A (n.*308G>A) c.1104G>A (p.Gln368=) c.*1061G>A (n.*1061G>A) c.1131G>A (p.Gln377=) | gnomAD v4 |
| 1 | g.244054905G>C | CA345674436 | ZBTB18 | c.*308G>C (n.*308G>C) c.1104G>C (p.Gln368His) c.*1061G>C (n.*1061G>C) c.1131G>C (p.Gln377His) | |
| 1 | g.244054905G= | CA1230659893 | ZBTB18 | c.*308G= (n.*308G=) c.1104G= (p.Gln368=) c.*1061G= (n.*1061G=) c.1131G= (p.Gln377=) | |
| 1 | g.244054905G>T | CA345674437 | ZBTB18 | c.*308G>T (n.*308G>T) c.1104G>T (p.Gln368His) c.*1061G>T (n.*1061G>T) c.1131G>T (p.Gln377His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054906A>C | CA345674438 | ZBTB18 | c.*309A>C (n.*309A>C) c.1105A>C (p.Ile369Leu) c.*1062A>C (n.*1062A>C) c.1132A>C (p.Ile378Leu) | |
| 1 | g.244054906A>G | CA345674440 | ZBTB18 | c.*309A>G (n.*309A>G) c.1105A>G (p.Ile369Val) c.*1062A>G (n.*1062A>G) c.1132A>G (p.Ile378Val) | |
| 1 | g.244054906A>T | CA345674439 | ZBTB18 | c.*309A>T (n.*309A>T) c.1105A>T (p.Ile369Phe) c.*1062A>T (n.*1062A>T) c.1132A>T (p.Ile378Phe) | |
| 1 | g.244054907T>A | CA345674441 | ZBTB18 | c.*310T>A (n.*310T>A) c.1106T>A (p.Ile369Asn) c.*1063T>A (n.*1063T>A) c.1133T>A (p.Ile378Asn) | |
| 1 | g.244054907T>C | CA345674443 | ZBTB18 | c.*310T>C (n.*310T>C) c.1106T>C (p.Ile369Thr) c.*1063T>C (n.*1063T>C) c.1133T>C (p.Ile378Thr) | |
| 1 | g.244054907T>G | CA345674442 | ZBTB18 | c.*310T>G (n.*310T>G) c.1106T>G (p.Ile369Ser) c.*1063T>G (n.*1063T>G) c.1133T>G (p.Ile378Ser) | |
| 1 | g.244054908C>A | CA424410663 | ZBTB18 | c.*311C>A (n.*311C>A) c.1107C>A (p.Ile369=) c.*1064C>A (n.*1064C>A) c.1134C>A (p.Ile378=) | |
| 1 | g.244054908C>G | CA345674444 | ZBTB18 | c.*311C>G (n.*311C>G) c.1107C>G (p.Ile369Met) c.*1064C>G (n.*1064C>G) c.1134C>G (p.Ile378Met) | |
| 1 | g.244054908C>T | CA424410664 | ZBTB18 | c.*311C>T (n.*311C>T) c.1107C>T (p.Ile369=) c.*1064C>T (n.*1064C>T) c.1134C>T (p.Ile378=) | |
| 1 | g.244054909T>A | CA345674445 | ZBTB18 | c.*312T>A (n.*312T>A) c.1108T>A (p.Phe370Ile) c.*1065T>A (n.*1065T>A) c.1135T>A (p.Phe379Ile) | |
| 1 | g.244054909T>C | CA345674446 | ZBTB18 | c.*312T>C (n.*312T>C) c.1108T>C (p.Phe370Leu) c.*1065T>C (n.*1065T>C) c.1135T>C (p.Phe379Leu) | gnomAD v4 |
| 1 | g.244054909T>G | CA345674447 | ZBTB18 | c.*312T>G (n.*312T>G) c.1108T>G (p.Phe370Val) c.*1065T>G (n.*1065T>G) c.1135T>G (p.Phe379Val) | |
| 1 | g.244054910T>A | CA345674448 | ZBTB18 | c.*313T>A (n.*313T>A) c.1109T>A (p.Phe370Tyr) c.*1066T>A (n.*1066T>A) c.1136T>A (p.Phe379Tyr) | |
| 1 | g.244054910T>C | CA345674449 | ZBTB18 | c.*313T>C (n.*313T>C) c.1109T>C (p.Phe370Ser) c.*1066T>C (n.*1066T>C) c.1136T>C (p.Phe379Ser) | |
| 1 | g.244054910T>G | CA345674450 | ZBTB18 | c.*313T>G (n.*313T>G) c.1109T>G (p.Phe370Cys) c.*1066T>G (n.*1066T>G) c.1136T>G (p.Phe379Cys) | |
| 1 | g.244054911C>A | CA345674452 | ZBTB18 | c.*314C>A (n.*314C>A) c.1110C>A (p.Phe370Leu) c.*1067C>A (n.*1067C>A) c.1137C>A (p.Phe379Leu) | |
| 1 | g.244054911C>G | CA345674451 | ZBTB18 | c.*314C>G (n.*314C>G) c.1110C>G (p.Phe370Leu) c.*1067C>G (n.*1067C>G) c.1137C>G (p.Phe379Leu) | |
| 1 | g.244054911C>T | CA424410672 | ZBTB18 | c.*314C>T (n.*314C>T) c.1110C>T (p.Phe370=) c.*1067C>T (n.*1067C>T) c.1137C>T (p.Phe379=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.244054912A= | CA1230659894 | ZBTB18 | c.*315A= (n.*315A=) c.1111A= (p.Met371=) c.*1068A= (n.*1068A=) c.1138A= (p.Met380=) | |
| 1 | g.244054912A>C | CA345674453 | ZBTB18 | c.*315A>C (n.*315A>C) c.1111A>C (p.Met371Leu) c.*1068A>C (n.*1068A>C) c.1138A>C (p.Met380Leu) | dbSNP |
| 1 | g.244054912A>G | CA345674454 | ZBTB18 | c.*315A>G (n.*315A>G) c.1111A>G (p.Met371Val) c.*1068A>G (n.*1068A>G) c.1138A>G (p.Met380Val) | ClinVar dbSNP |
| 1 | g.244054912A>T | CA345674455 | ZBTB18 | c.*315A>T (n.*315A>T) c.1111A>T (p.Met371Leu) c.*1068A>T (n.*1068A>T) c.1138A>T (p.Met380Leu) | |
| 1 | g.244054913T>A | CA345674456 | ZBTB18 | c.*316T>A (n.*316T>A) c.1112T>A (p.Met371Lys) c.*1069T>A (n.*1069T>A) c.1139T>A (p.Met380Lys) | |
| 1 | g.244054913T>C | CA345674457 | ZBTB18 | c.*316T>C (n.*316T>C) c.1112T>C (p.Met371Thr) c.*1069T>C (n.*1069T>C) c.1139T>C (p.Met380Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054913T>G | CA345674458 | ZBTB18 | c.*316T>G (n.*316T>G) c.1112T>G (p.Met371Arg) c.*1069T>G (n.*1069T>G) c.1139T>G (p.Met380Arg) | |
| 1 | g.244054913T= | CA1230659895 | ZBTB18 | c.*316T= (n.*316T=) c.1112T= (p.Met371=) c.*1069T= (n.*1069T=) c.1139T= (p.Met380=) | |
| 1 | g.244054914G>A | CA345674459 | ZBTB18 | c.*317G>A (n.*317G>A) c.1113G>A (p.Met371Ile) c.*1070G>A (n.*1070G>A) c.1140G>A (p.Met380Ile) | |
| 1 | g.244054914G>C | CA345674461 | ZBTB18 | c.*317G>C (n.*317G>C) c.1113G>C (p.Met371Ile) c.*1070G>C (n.*1070G>C) c.1140G>C (p.Met380Ile) | |
| 1 | g.244054914G= | CA1230659896 | ZBTB18 | c.*317G= (n.*317G=) c.1113G= (p.Met371=) c.*1070G= (n.*1070G=) c.1140G= (p.Met380=) | |
| 1 | g.244054914G>T | CA345674460 | ZBTB18 | c.*317G>T (n.*317G>T) c.1113G>T (p.Met371Ile) c.*1070G>T (n.*1070G>T) c.1140G>T (p.Met380Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054915T>A | CA345674462 | ZBTB18 | c.*318T>A (n.*318T>A) c.1114T>A (p.Cys372Ser) c.*1071T>A (n.*1071T>A) c.1141T>A (p.Cys381Ser) | |
| 1 | g.244054915T>C | CA345674463 | ZBTB18 | c.*318T>C (n.*318T>C) c.1114T>C (p.Cys372Arg) c.*1071T>C (n.*1071T>C) c.1141T>C (p.Cys381Arg) | |
| 1 | g.244054915T>G | CA345674464 | ZBTB18 | c.*318T>G (n.*318T>G) c.1114T>G (p.Cys372Gly) c.*1071T>G (n.*1071T>G) c.1141T>G (p.Cys381Gly) | |
| 1 | g.244054916G>A | CA345674465 | ZBTB18 | c.*319G>A (n.*319G>A) c.1115G>A (p.Cys372Tyr) c.*1072G>A (n.*1072G>A) c.1142G>A (p.Cys381Tyr) | gnomAD v4 |
| 1 | g.244054916G>C | CA345674466 | ZBTB18 | c.*319G>C (n.*319G>C) c.1115G>C (p.Cys372Ser) c.*1072G>C (n.*1072G>C) c.1142G>C (p.Cys381Ser) | |
| 1 | g.244054916G>T | CA345674467 | ZBTB18 | c.*319G>T (n.*319G>T) c.1115G>T (p.Cys372Phe) c.*1072G>T (n.*1072G>T) c.1142G>T (p.Cys381Phe) | |
| 1 | g.244054916_244054917delinsGC | CA1230659897 | ZBTB18 | c.*319_*320delinsGC (n.*319_*320delinsGC) c.1115_1116delinsGC (p.Cys372=) c.*1072_*1073delinsGC (n.*1072_*1073delinsGC) c.1142_1143delinsGC (p.Cys381=) | |
| 1 | g.244054916_244054920delinsAACCCT | CA2580063505 | ZBTB18 | c.*319_*323delinsAACCCT (n.*319_*323delinsAACCCT) c.1115_1119delinsAACCCT (p.Cys372Ter) c.*1072_*1076delinsAACCCT (n.*1072_*1076delinsAACCCT) c.1142_1146delinsAACCCT (p.Cys381Ter) | ClinVar |
| 1 | g.244054917C>A | CA345674468 | ZBTB18 | c.*320C>A (n.*320C>A) c.1116C>A (p.Cys372Ter) c.*1073C>A (n.*1073C>A) c.1143C>A (p.Cys381Ter) | ClinVar dbSNP |
| 1 | g.244054917C= | CA1230659898 | ZBTB18 | c.*320C= (n.*320C=) c.1116C= (p.Cys372=) c.*1073C= (n.*1073C=) c.1143C= (p.Cys381=) | |
| 1 | g.244054917C>G | CA345674469 | ZBTB18 | c.*320C>G (n.*320C>G) c.1116C>G (p.Cys372Trp) c.*1073C>G (n.*1073C>G) c.1143C>G (p.Cys381Trp) | |
| 1 | g.244054917C>T | CA424410800 | ZBTB18 | c.*320C>T (n.*320C>T) c.1116C>T (p.Cys372=) c.*1073C>T (n.*1073C>T) c.1143C>T (p.Cys381=) | |
| 1 | g.244054921dup | CA2748433045 | ZBTB18 | c.*324dup (n.*324dup) c.1120dup (p.Leu374ProfsTer?) c.*1077dup (n.*1077dup) c.1147dup (p.Leu383ProfsTer?) | |
| 1 | g.244054921del | CA645516229 | ZBTB18 | c.*324del (n.*324del) c.1120del (p.Leu374CysfsTer16) c.*1077del (n.*1077del) c.1147del (p.Leu383CysfsTer16) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.244054918C>A | CA345674470 | ZBTB18 | c.*321C>A (n.*321C>A) c.1117C>A (p.Pro373Thr) c.*1074C>A (n.*1074C>A) c.1144C>A (p.Pro382Thr) | |
| 1 | g.244054918C>G | CA345674471 | ZBTB18 | c.*321C>G (n.*321C>G) c.1117C>G (p.Pro373Ala) c.*1074C>G (n.*1074C>G) c.1144C>G (p.Pro382Ala) | |
| 1 | g.244054918C>T | CA345674472 | ZBTB18 | c.*321C>T (n.*321C>T) c.1117C>T (p.Pro373Ser) c.*1074C>T (n.*1074C>T) c.1144C>T (p.Pro382Ser) | COSMIC COSMIC |
| 1 | g.244054919C>A | CA345674473 | ZBTB18 | c.*322C>A (n.*322C>A) c.1118C>A (p.Pro373His) c.*1075C>A (n.*1075C>A) c.1145C>A (p.Pro382His) | |
| 1 | g.244054919C>G | CA345674475 | ZBTB18 | c.*322C>G (n.*322C>G) c.1118C>G (p.Pro373Arg) c.*1075C>G (n.*1075C>G) c.1145C>G (p.Pro382Arg) | |
| 1 | g.244054919C>T | CA345674474 | ZBTB18 | c.*322C>T (n.*322C>T) c.1118C>T (p.Pro373Leu) c.*1075C>T (n.*1075C>T) c.1145C>T (p.Pro382Leu) | |
| 1 | g.244054920C>A | CA424410808 | ZBTB18 | c.*323C>A (n.*323C>A) c.1119C>A (p.Pro373=) c.*1076C>A (n.*1076C>A) c.1146C>A (p.Pro382=) | gnomAD v4 |
| 1 | g.244054920C= | CA1230659899 | ZBTB18 | c.*323C= (n.*323C=) c.1119C= (p.Pro373=) c.*1076C= (n.*1076C=) c.1146C= (p.Pro382=) | |
| 1 | g.244054920C>G | CA424410807 | ZBTB18 | c.*323C>G (n.*323C>G) c.1119C>G (p.Pro373=) c.*1076C>G (n.*1076C>G) c.1146C>G (p.Pro382=) | dbSNP gnomAD v4 |
| 1 | g.244054920C>T | CA1484406 | ZBTB18 | c.*323C>T (n.*323C>T) c.1119C>T (p.Pro373=) c.*1076C>T (n.*1076C>T) c.1146C>T (p.Pro382=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.244054921C>A | CA345674476 | ZBTB18 | c.*324C>A (n.*324C>A) c.1120C>A (p.Leu374Met) c.*1077C>A (n.*1077C>A) c.1147C>A (p.Leu383Met) | |
| 1 | g.244054921C>G | CA345674477 | ZBTB18 | c.*324C>G (n.*324C>G) c.1120C>G (p.Leu374Val) c.*1077C>G (n.*1077C>G) c.1147C>G (p.Leu383Val) | |
| 1 | g.244054921C>T | CA424410809 | ZBTB18 | c.*324C>T (n.*324C>T) c.1120C>T (p.Leu374=) c.*1077C>T (n.*1077C>T) c.1147C>T (p.Leu383=) | |
| 1 | g.244054922T>A | CA345674478 | ZBTB18 | c.*325T>A (n.*325T>A) c.1121T>A (p.Leu374Gln) c.*1078T>A (n.*1078T>A) c.1148T>A (p.Leu383Gln) | |
| 1 | g.244054922T>C | CA345674479 | ZBTB18 | c.*325T>C (n.*325T>C) c.1121T>C (p.Leu374Pro) c.*1078T>C (n.*1078T>C) c.1148T>C (p.Leu383Pro) | dbSNP |
| 1 | g.244054922T>G | CA345674480 | ZBTB18 | c.*325T>G (n.*325T>G) c.1121T>G (p.Leu374Arg) c.*1078T>G (n.*1078T>G) c.1148T>G (p.Leu383Arg) | |
| 1 | g.244054922T= | CA1230659900 | ZBTB18 | c.*325T= (n.*325T=) c.1121T= (p.Leu374=) c.*1078T= (n.*1078T=) c.1148T= (p.Leu383=) | |
| 1 | g.244054923G>A | CA424410814 | ZBTB18 | c.*326G>A (n.*326G>A) c.1122G>A (p.Leu374=) c.*1079G>A (n.*1079G>A) c.1149G>A (p.Leu383=) | dbSNP gnomAD v4 |
| 1 | g.244054923G>C | CA424410812 | ZBTB18 | c.*326G>C (n.*326G>C) c.1122G>C (p.Leu374=) c.*1079G>C (n.*1079G>C) c.1149G>C (p.Leu383=) | |
| 1 | g.244054923G= | CA1230659901 | ZBTB18 | c.*326G= (n.*326G=) c.1122G= (p.Leu374=) c.*1079G= (n.*1079G=) c.1149G= (p.Leu383=) | |
| 1 | g.244054923G>T | CA424410811 | ZBTB18 | c.*326G>T (n.*326G>T) c.1122G>T (p.Leu374=) c.*1079G>T (n.*1079G>T) c.1149G>T (p.Leu383=) | |
| 1 | g.244054924T>A | CA345674481 | ZBTB18 | c.*327T>A (n.*327T>A) c.1123T>A (p.Cys375Ser) c.*1080T>A (n.*1080T>A) c.1150T>A (p.Cys384Ser) | |
| 1 | g.244054924T>C | CA345674482 | ZBTB18 | c.*327T>C (n.*327T>C) c.1123T>C (p.Cys375Arg) c.*1080T>C (n.*1080T>C) c.1150T>C (p.Cys384Arg) | |
| 1 | g.244054924T>G | CA345674483 | ZBTB18 | c.*327T>G (n.*327T>G) c.1123T>G (p.Cys375Gly) c.*1080T>G (n.*1080T>G) c.1150T>G (p.Cys384Gly) | |
| 1 | g.244054925G>A | CA345674484 | ZBTB18 | c.*328G>A (n.*328G>A) c.1124G>A (p.Cys375Tyr) c.*1081G>A (n.*1081G>A) c.1151G>A (p.Cys384Tyr) | |
| 1 | g.244054925G>C | CA345674485 | ZBTB18 | c.*328G>C (n.*328G>C) c.1124G>C (p.Cys375Ser) c.*1081G>C (n.*1081G>C) c.1151G>C (p.Cys384Ser) | |
| 1 | g.244054925G>T | CA345674486 | ZBTB18 | c.*328G>T (n.*328G>T) c.1124G>T (p.Cys375Phe) c.*1081G>T (n.*1081G>T) c.1151G>T (p.Cys384Phe) | |
| 1 | g.244054926C>A | CA345674488 | ZBTB18 | c.*329C>A (n.*329C>A) c.1125C>A (p.Cys375Ter) c.*1082C>A (n.*1082C>A) c.1152C>A (p.Cys384Ter) | |
| 1 | g.244054926C= | CA1230659902 | ZBTB18 | c.*329C= (n.*329C=) c.1125C= (p.Cys375=) c.*1082C= (n.*1082C=) c.1152C= (p.Cys384=) | |
| 1 | g.244054926C>G | CA345674487 | ZBTB18 | c.*329C>G (n.*329C>G) c.1125C>G (p.Cys375Trp) c.*1082C>G (n.*1082C>G) c.1152C>G (p.Cys384Trp) | |
| 1 | g.244054926C>T | CA424410824 | ZBTB18 | c.*329C>T (n.*329C>T) c.1125C>T (p.Cys375=) c.*1082C>T (n.*1082C>T) c.1152C>T (p.Cys384=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054927A>C | CA345674489 | ZBTB18 | c.*330A>C (n.*330A>C) c.1126A>C (p.Asn376His) c.*1083A>C (n.*1083A>C) c.1153A>C (p.Asn385His) | |
| 1 | g.244054927A>G | CA345674490 | ZBTB18 | c.*330A>G (n.*330A>G) c.1126A>G (p.Asn376Asp) c.*1083A>G (n.*1083A>G) c.1153A>G (p.Asn385Asp) | |
| 1 | g.244054927A>T | CA345674491 | ZBTB18 | c.*330A>T (n.*330A>T) c.1126A>T (p.Asn376Tyr) c.*1083A>T (n.*1083A>T) c.1153A>T (p.Asn385Tyr) | |
| 1 | g.244054928A>C | CA345674492 | ZBTB18 | c.*331A>C (n.*331A>C) c.1127A>C (p.Asn376Thr) c.*1084A>C (n.*1084A>C) c.1154A>C (p.Asn385Thr) | |
| 1 | g.244054928A>G | CA345674493 | ZBTB18 | c.*331A>G (n.*331A>G) c.1127A>G (p.Asn376Ser) c.*1084A>G (n.*1084A>G) c.1154A>G (p.Asn385Ser) | |
| 1 | g.244054928A>T | CA345674494 | ZBTB18 | c.*331A>T (n.*331A>T) c.1127A>T (p.Asn376Ile) c.*1084A>T (n.*1084A>T) c.1154A>T (p.Asn385Ile) | |
| 1 | g.244054929C>A | CA345674495 | ZBTB18 | c.*332C>A (n.*332C>A) c.1128C>A (p.Asn376Lys) c.*1085C>A (n.*1085C>A) c.1155C>A (p.Asn385Lys) | |
| 1 | g.244054929C>G | CA345674496 | ZBTB18 | c.*332C>G (n.*332C>G) c.1128C>G (p.Asn376Lys) c.*1085C>G (n.*1085C>G) c.1155C>G (p.Asn385Lys) | |
| 1 | g.244054929C>T | CA424410834 | ZBTB18 | c.*332C>T (n.*332C>T) c.1128C>T (p.Asn376=) c.*1085C>T (n.*1085C>T) c.1155C>T (p.Asn385=) | |
| 1 | g.244054930A>C | CA345674497 | ZBTB18 | c.*333A>C (n.*333A>C) c.1129A>C (p.Lys377Gln) c.*1086A>C (n.*1086A>C) c.1156A>C (p.Lys386Gln) | |
| 1 | g.244054930A>G | CA345674498 | ZBTB18 | c.*333A>G (n.*333A>G) c.1129A>G (p.Lys377Glu) c.*1086A>G (n.*1086A>G) c.1156A>G (p.Lys386Glu) | COSMIC COSMIC |
| 1 | g.244054930A>T | CA345674499 | ZBTB18 | c.*333A>T (n.*333A>T) c.1129A>T (p.Lys377Ter) c.*1086A>T (n.*1086A>T) c.1156A>T (p.Lys386Ter) | |
| 1 | g.244054931A>C | CA345674502 | ZBTB18 | c.*334A>C (n.*334A>C) c.1130A>C (p.Lys377Thr) c.*1087A>C (n.*1087A>C) c.1157A>C (p.Lys386Thr) | |
| 1 | g.244054931A>G | CA345674501 | ZBTB18 | c.*334A>G (n.*334A>G) c.1130A>G (p.Lys377Arg) c.*1087A>G (n.*1087A>G) c.1157A>G (p.Lys386Arg) | |
| 1 | g.244054931A>T | CA345674500 | ZBTB18 | c.*334A>T (n.*334A>T) c.1130A>T (p.Lys377Met) c.*1087A>T (n.*1087A>T) c.1157A>T (p.Lys386Met) | |
| 1 | g.244054932G>A | CA424410841 | ZBTB18 | c.*335G>A (n.*335G>A) c.1131G>A (p.Lys377=) c.*1088G>A (n.*1088G>A) c.1158G>A (p.Lys386=) | COSMIC COSMIC |
| 1 | g.244054932G>C | CA345674503 | ZBTB18 | c.*335G>C (n.*335G>C) c.1131G>C (p.Lys377Asn) c.*1088G>C (n.*1088G>C) c.1158G>C (p.Lys386Asn) | |
| 1 | g.244054932G>T | CA345674504 | ZBTB18 | c.*335G>T (n.*335G>T) c.1131G>T (p.Lys377Asn) c.*1088G>T (n.*1088G>T) c.1158G>T (p.Lys386Asn) | |
| 1 | g.244054933G>A | CA345674505 | ZBTB18 | c.*336G>A (n.*336G>A) c.1132G>A (p.Val378Ile) c.*1089G>A (n.*1089G>A) c.1159G>A (p.Val387Ile) | |
| 1 | g.244054933G>C | CA345674506 | ZBTB18 | c.*336G>C (n.*336G>C) c.1132G>C (p.Val378Leu) c.*1089G>C (n.*1089G>C) c.1159G>C (p.Val387Leu) | |
| 1 | g.244054933G>T | CA345674507 | ZBTB18 | c.*336G>T (n.*336G>T) c.1132G>T (p.Val378Phe) c.*1089G>T (n.*1089G>T) c.1159G>T (p.Val387Phe) | |
| 1 | g.244054934T>A | CA345674508 | ZBTB18 | c.*337T>A (n.*337T>A) c.1133T>A (p.Val378Asp) c.*1090T>A (n.*1090T>A) c.1160T>A (p.Val387Asp) | |
| 1 | g.244054934T>C | CA1484407 | ZBTB18 | c.*337T>C (n.*337T>C) c.1133T>C (p.Val378Ala) c.*1090T>C (n.*1090T>C) c.1160T>C (p.Val387Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054934T>G | CA345674509 | ZBTB18 | c.*337T>G (n.*337T>G) c.1133T>G (p.Val378Gly) c.*1090T>G (n.*1090T>G) c.1160T>G (p.Val387Gly) | |
| 1 | g.244054934T= | CA1230659903 | ZBTB18 | c.*337T= (n.*337T=) c.1133T= (p.Val378=) c.*1090T= (n.*1090T=) c.1160T= (p.Val387=) | |
| 1 | g.244054935C>A | CA424410845 | ZBTB18 | c.*338C>A (n.*338C>A) c.1134C>A (p.Val378=) c.*1091C>A (n.*1091C>A) c.1161C>A (p.Val387=) | |
| 1 | g.244054935C>G | CA424410846 | ZBTB18 | c.*338C>G (n.*338C>G) c.1134C>G (p.Val378=) c.*1091C>G (n.*1091C>G) c.1161C>G (p.Val387=) | |
| 1 | g.244054935C>T | CA424410848 | ZBTB18 | c.*338C>T (n.*338C>T) c.1134C>T (p.Val378=) c.*1091C>T (n.*1091C>T) c.1161C>T (p.Val387=) | gnomAD v4 |
| 1 | g.244054936T>A | CA345674510 | ZBTB18 | c.*339T>A (n.*339T>A) c.1135T>A (p.Phe379Ile) c.*1092T>A (n.*1092T>A) c.1162T>A (p.Phe388Ile) | |
| 1 | g.244054936T>C | CA345674511 | ZBTB18 | c.*339T>C (n.*339T>C) c.1135T>C (p.Phe379Leu) c.*1092T>C (n.*1092T>C) c.1162T>C (p.Phe388Leu) | |
| 1 | g.244054936T>G | CA345674512 | ZBTB18 | c.*339T>G (n.*339T>G) c.1135T>G (p.Phe379Val) c.*1092T>G (n.*1092T>G) c.1162T>G (p.Phe388Val) | |
| 1 | g.244054937T>A | CA345674513 | ZBTB18 | c.*340T>A (n.*340T>A) c.1136T>A (p.Phe379Tyr) c.*1093T>A (n.*1093T>A) c.1163T>A (p.Phe388Tyr) | |
| 1 | g.244054937T>C | CA345674514 | ZBTB18 | c.*340T>C (n.*340T>C) c.1136T>C (p.Phe379Ser) c.*1093T>C (n.*1093T>C) c.1163T>C (p.Phe388Ser) | |
| 1 | g.244054937T>G | CA345674515 | ZBTB18 | c.*340T>G (n.*340T>G) c.1136T>G (p.Phe379Cys) c.*1093T>G (n.*1093T>G) c.1163T>G (p.Phe388Cys) | |
| 1 | g.244054938C>A | CA345674517 | ZBTB18 | c.*341C>A (n.*341C>A) c.1137C>A (p.Phe379Leu) c.*1094C>A (n.*1094C>A) c.1164C>A (p.Phe388Leu) | |
| 1 | g.244054938C>G | CA345674516 | ZBTB18 | c.*341C>G (n.*341C>G) c.1137C>G (p.Phe379Leu) c.*1094C>G (n.*1094C>G) c.1164C>G (p.Phe388Leu) | |
| 1 | g.244054938C>T | CA424410854 | ZBTB18 | c.*341C>T (n.*341C>T) c.1137C>T (p.Phe379=) c.*1094C>T (n.*1094C>T) c.1164C>T (p.Phe388=) | |
| 1 | g.244054939C>A | CA345674518 | ZBTB18 | c.*342C>A (n.*342C>A) c.1138C>A (p.Pro380Thr) c.*1095C>A (n.*1095C>A) c.1165C>A (p.Pro389Thr) | |
| 1 | g.244054939C>G | CA345674519 | ZBTB18 | c.*342C>G (n.*342C>G) c.1138C>G (p.Pro380Ala) c.*1095C>G (n.*1095C>G) c.1165C>G (p.Pro389Ala) | |
| 1 | g.244054939C>T | CA345674520 | ZBTB18 | c.*342C>T (n.*342C>T) c.1138C>T (p.Pro380Ser) c.*1095C>T (n.*1095C>T) c.1165C>T (p.Pro389Ser) | |
| 1 | g.244054940C>A | CA345674521 | ZBTB18 | c.*343C>A (n.*343C>A) c.1139C>A (p.Pro380His) c.*1096C>A (n.*1096C>A) c.1166C>A (p.Pro389His) | |
| 1 | g.244054940C>G | CA345674522 | ZBTB18 | c.*343C>G (n.*343C>G) c.1139C>G (p.Pro380Arg) c.*1096C>G (n.*1096C>G) c.1166C>G (p.Pro389Arg) | |
| 1 | g.244054940C>T | CA345674523 | ZBTB18 | c.*343C>T (n.*343C>T) c.1139C>T (p.Pro380Leu) c.*1096C>T (n.*1096C>T) c.1166C>T (p.Pro389Leu) | |
| 1 | g.244054941C>A | CA424410861 | ZBTB18 | c.*344C>A (n.*344C>A) c.1140C>A (p.Pro380=) c.*1097C>A (n.*1097C>A) c.1167C>A (p.Pro389=) | |
| 1 | g.244054941C>G | CA424410860 | ZBTB18 | c.*344C>G (n.*344C>G) c.1140C>G (p.Pro380=) c.*1097C>G (n.*1097C>G) c.1167C>G (p.Pro389=) | |
| 1 | g.244054941C>T | CA424410859 | ZBTB18 | c.*344C>T (n.*344C>T) c.1140C>T (p.Pro380=) c.*1097C>T (n.*1097C>T) c.1167C>T (p.Pro389=) | gnomAD v4 |
| 1 | g.244054942A>C | CA345674526 | ZBTB18 | c.*345A>C (n.*345A>C) c.1141A>C (p.Ser381Arg) c.*1098A>C (n.*1098A>C) c.1168A>C (p.Ser390Arg) | |
| 1 | g.244054942A>G | CA345674524 | ZBTB18 | c.*345A>G (n.*345A>G) c.1141A>G (p.Ser381Gly) c.*1098A>G (n.*1098A>G) c.1168A>G (p.Ser390Gly) | |
| 1 | g.244054942A>T | CA345674525 | ZBTB18 | c.*345A>T (n.*345A>T) c.1141A>T (p.Ser381Cys) c.*1098A>T (n.*1098A>T) c.1168A>T (p.Ser390Cys) | |
| 1 | g.244054943G>A | CA345674527 | ZBTB18 | c.*346G>A (n.*346G>A) c.1142G>A (p.Ser381Asn) c.*1099G>A (n.*1099G>A) c.1169G>A (p.Ser390Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054943G>C | CA345674528 | ZBTB18 | c.*346G>C (n.*346G>C) c.1142G>C (p.Ser381Thr) c.*1099G>C (n.*1099G>C) c.1169G>C (p.Ser390Thr) | |
| 1 | g.244054943G= | CA1230659904 | ZBTB18 | c.*346G= (n.*346G=) c.1142G= (p.Ser381=) c.*1099G= (n.*1099G=) c.1169G= (p.Ser390=) | |
| 1 | g.244054943G>T | CA345674529 | ZBTB18 | c.*346G>T (n.*346G>T) c.1142G>T (p.Ser381Ile) c.*1099G>T (n.*1099G>T) c.1169G>T (p.Ser390Ile) | |
| 1 | g.244054943_244054944delinsGC | CA1230659905 | ZBTB18 | c.*346_*347delinsGC (n.*346_*347delinsGC) c.1142_1143delinsGC (p.Ser381=) c.*1099_*1100delinsGC (n.*1099_*1100delinsGC) c.1169_1170delinsGC (p.Ser390=) | |
| 1 | g.244054944C>A | CA345674530 | ZBTB18 | c.*347C>A (n.*347C>A) c.1143C>A (p.Ser381Arg) c.*1100C>A (n.*1100C>A) c.1170C>A (p.Ser390Arg) | |
| 1 | g.244054944C= | CA1230659906 | ZBTB18 | c.*347C= (n.*347C=) c.1143C= (p.Ser381=) c.*1100C= (n.*1100C=) c.1170C= (p.Ser390=) | |
| 1 | g.244054944C>G | CA345674531 | ZBTB18 | c.*347C>G (n.*347C>G) c.1143C>G (p.Ser381Arg) c.*1100C>G (n.*1100C>G) c.1170C>G (p.Ser390Arg) | gnomAD v4 |
| 1 | g.244054944C>T | CA424410865 | ZBTB18 | c.*347C>T (n.*347C>T) c.1143C>T (p.Ser381=) c.*1100C>T (n.*1100C>T) c.1170C>T (p.Ser390=) | dbSNP gnomAD v2 |
| 1 | g.244054948del | CA1139656733 | ZBTB18 | c.*351del (n.*351del) c.1147del (p.His383ThrfsTer7) c.*1104del (n.*1104del) c.1174del (p.His392ThrfsTer7) | ClinVar dbSNP |
| 1 | g.244054945C>A | CA345674532 | ZBTB18 | c.*348C>A (n.*348C>A) c.1144C>A (p.Pro382Thr) c.*1101C>A (n.*1101C>A) c.1171C>A (p.Pro391Thr) | |
| 1 | g.244054945C>G | CA345674534 | ZBTB18 | c.*348C>G (n.*348C>G) c.1144C>G (p.Pro382Ala) c.*1101C>G (n.*1101C>G) c.1171C>G (p.Pro391Ala) | |
| 1 | g.244054945C>T | CA345674533 | ZBTB18 | c.*348C>T (n.*348C>T) c.1144C>T (p.Pro382Ser) c.*1101C>T (n.*1101C>T) c.1171C>T (p.Pro391Ser) | |
| 1 | g.244054946C>A | CA345674535 | ZBTB18 | c.*349C>A (n.*349C>A) c.1145C>A (p.Pro382His) c.*1102C>A (n.*1102C>A) c.1172C>A (p.Pro391His) | |
| 1 | g.244054946C>G | CA345674536 | ZBTB18 | c.*349C>G (n.*349C>G) c.1145C>G (p.Pro382Arg) c.*1102C>G (n.*1102C>G) c.1172C>G (p.Pro391Arg) | |
| 1 | g.244054946C>T | CA345674537 | ZBTB18 | c.*349C>T (n.*349C>T) c.1145C>T (p.Pro382Leu) c.*1102C>T (n.*1102C>T) c.1172C>T (p.Pro391Leu) | |
| 1 | g.244054947C>A | CA424410876 | ZBTB18 | c.*350C>A (n.*350C>A) c.1146C>A (p.Pro382=) c.*1103C>A (n.*1103C>A) c.1173C>A (p.Pro391=) | |
| 1 | g.244054947C= | CA1230659907 | ZBTB18 | c.*350C= (n.*350C=) c.1146C= (p.Pro382=) c.*1103C= (n.*1103C=) c.1173C= (p.Pro391=) | |
| 1 | g.244054947C>G | CA424410879 | ZBTB18 | c.*350C>G (n.*350C>G) c.1146C>G (p.Pro382=) c.*1103C>G (n.*1103C>G) c.1173C>G (p.Pro391=) | |
| 1 | g.244054947C>T | CA424410880 | ZBTB18 | c.*350C>T (n.*350C>T) c.1146C>T (p.Pro382=) c.*1103C>T (n.*1103C>T) c.1173C>T (p.Pro391=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054948C>A | CA345674538 | ZBTB18 | c.*351C>A (n.*351C>A) c.1147C>A (p.His383Asn) c.*1104C>A (n.*1104C>A) c.1174C>A (p.His392Asn) | gnomAD v4 |
| 1 | g.244054948C>G | CA345674539 | ZBTB18 | c.*351C>G (n.*351C>G) c.1147C>G (p.His383Asp) c.*1104C>G (n.*1104C>G) c.1174C>G (p.His392Asp) | |
| 1 | g.244054948C>T | CA345674540 | ZBTB18 | c.*351C>T (n.*351C>T) c.1147C>T (p.His383Tyr) c.*1104C>T (n.*1104C>T) c.1174C>T (p.His392Tyr) | |
| 1 | g.244054949A>C | CA345674541 | ZBTB18 | c.*352A>C (n.*352A>C) c.1148A>C (p.His383Pro) c.*1105A>C (n.*1105A>C) c.1175A>C (p.His392Pro) | |
| 1 | g.244054949A>G | CA345674542 | ZBTB18 | c.*352A>G (n.*352A>G) c.1148A>G (p.His383Arg) c.*1105A>G (n.*1105A>G) c.1175A>G (p.His392Arg) | |
| 1 | g.244054949A>T | CA345674543 | ZBTB18 | c.*352A>T (n.*352A>T) c.1148A>T (p.His383Leu) c.*1105A>T (n.*1105A>T) c.1175A>T (p.His392Leu) | |
| 1 | g.244054950C>A | CA345674544 | ZBTB18 | c.*353C>A (n.*353C>A) c.1149C>A (p.His383Gln) c.*1106C>A (n.*1106C>A) c.1176C>A (p.His392Gln) | |
| 1 | g.244054950C>G | CA345674545 | ZBTB18 | c.*353C>G (n.*353C>G) c.1149C>G (p.His383Gln) c.*1106C>G (n.*1106C>G) c.1176C>G (p.His392Gln) | |
| 1 | g.244054950C>T | CA424410887 | ZBTB18 | c.*353C>T (n.*353C>T) c.1149C>T (p.His383=) c.*1106C>T (n.*1106C>T) c.1176C>T (p.His392=) | |
| 1 | g.244054951A>C | CA345674548 | ZBTB18 | c.*354A>C (n.*354A>C) c.1150A>C (p.Ile384Leu) c.*1107A>C (n.*1107A>C) c.1177A>C (p.Ile393Leu) | |
| 1 | g.244054951A>G | CA345674547 | ZBTB18 | c.*354A>G (n.*354A>G) c.1150A>G (p.Ile384Val) c.*1107A>G (n.*1107A>G) c.1177A>G (p.Ile393Val) | |
| 1 | g.244054951A>T | CA345674546 | ZBTB18 | c.*354A>T (n.*354A>T) c.1150A>T (p.Ile384Phe) c.*1107A>T (n.*1107A>T) c.1177A>T (p.Ile393Phe) | gnomAD v4 |
| 1 | g.244054952T>A | CA345674549 | ZBTB18 | c.*355T>A (n.*355T>A) c.1151T>A (p.Ile384Asn) c.*1108T>A (n.*1108T>A) c.1178T>A (p.Ile393Asn) | |
| 1 | g.244054952T>C | CA345674550 | ZBTB18 | c.*355T>C (n.*355T>C) c.1151T>C (p.Ile384Thr) c.*1108T>C (n.*1108T>C) c.1178T>C (p.Ile393Thr) | |
| 1 | g.244054952T>G | CA345674551 | ZBTB18 | c.*355T>G (n.*355T>G) c.1151T>G (p.Ile384Ser) c.*1108T>G (n.*1108T>G) c.1178T>G (p.Ile393Ser) | |
| 1 | g.244054953C>A | CA424410896 | ZBTB18 | c.*356C>A (n.*356C>A) c.1152C>A (p.Ile384=) c.*1109C>A (n.*1109C>A) c.1179C>A (p.Ile393=) | |
| 1 | g.244054953C>G | CA345674552 | ZBTB18 | c.*356C>G (n.*356C>G) c.1152C>G (p.Ile384Met) c.*1109C>G (n.*1109C>G) c.1179C>G (p.Ile393Met) | |
| 1 | g.244054953C>T | CA424410892 | ZBTB18 | c.*356C>T (n.*356C>T) c.1152C>T (p.Ile384=) c.*1109C>T (n.*1109C>T) c.1179C>T (p.Ile393=) | |
| 1 | g.244054954C>A | CA345674553 | ZBTB18 | c.*357C>A (n.*357C>A) c.1153C>A (p.Leu385Met) c.*1110C>A (n.*1110C>A) c.1180C>A (p.Leu394Met) | |
| 1 | g.244054954C= | CA1230659908 | ZBTB18 | c.*357C= (n.*357C=) c.1153C= (p.Leu385=) c.*1110C= (n.*1110C=) c.1180C= (p.Leu394=) | |
| 1 | g.244054954C>G | CA345674554 | ZBTB18 | c.*357C>G (n.*357C>G) c.1153C>G (p.Leu385Val) c.*1110C>G (n.*1110C>G) c.1180C>G (p.Leu394Val) | gnomAD v4 |
| 1 | g.244054954C>T | CA424410898 | ZBTB18 | c.*357C>T (n.*357C>T) c.1153C>T (p.Leu385=) c.*1110C>T (n.*1110C>T) c.1180C>T (p.Leu394=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054955T>A | CA345674555 | ZBTB18 | c.*358T>A (n.*358T>A) c.1154T>A (p.Leu385Gln) c.*1111T>A (n.*1111T>A) c.1181T>A (p.Leu394Gln) | |
| 1 | g.244054955T>C | CA345674556 | ZBTB18 | c.*358T>C (n.*358T>C) c.1154T>C (p.Leu385Pro) c.*1111T>C (n.*1111T>C) c.1181T>C (p.Leu394Pro) | |
| 1 | g.244054955T>G | CA345674557 | ZBTB18 | c.*358T>G (n.*358T>G) c.1154T>G (p.Leu385Arg) c.*1111T>G (n.*1111T>G) c.1181T>G (p.Leu394Arg) | |
| 1 | g.244054956G>A | CA424410901 | ZBTB18 | c.*359G>A (n.*359G>A) c.1155G>A (p.Leu385=) c.*1112G>A (n.*1112G>A) c.1182G>A (p.Leu394=) | |
| 1 | g.244054956G>C | CA424410902 | ZBTB18 | c.*359G>C (n.*359G>C) c.1155G>C (p.Leu385=) c.*1112G>C (n.*1112G>C) c.1182G>C (p.Leu394=) | |
| 1 | g.244054956G>T | CA424410903 | ZBTB18 | c.*359G>T (n.*359G>T) c.1155G>T (p.Leu385=) c.*1112G>T (n.*1112G>T) c.1182G>T (p.Leu394=) | |
| 1 | g.244054957C>A | CA345674558 | ZBTB18 | c.*360C>A (n.*360C>A) c.1156C>A (p.Gln386Lys) c.*1113C>A (n.*1113C>A) c.1183C>A (p.Gln395Lys) | |
| 1 | g.244054957C= | CA1230659909 | ZBTB18 | c.*360C= (n.*360C=) c.1156C= (p.Gln386=) c.*1113C= (n.*1113C=) c.1183C= (p.Gln395=) | |
| 1 | g.244054957C>G | CA345674559 | ZBTB18 | c.*360C>G (n.*360C>G) c.1156C>G (p.Gln386Glu) c.*1113C>G (n.*1113C>G) c.1183C>G (p.Gln395Glu) | |
| 1 | g.244054957C>T | CA10576134 | ZBTB18 | c.*360C>T (n.*360C>T) c.1156C>T (p.Gln386Ter) c.*1113C>T (n.*1113C>T) c.1183C>T (p.Gln395Ter) | ClinVar dbSNP |
| 1 | g.244054958A>C | CA345674562 | ZBTB18 | c.*361A>C (n.*361A>C) c.1157A>C (p.Gln386Pro) c.*1114A>C (n.*1114A>C) c.1184A>C (p.Gln395Pro) | |
| 1 | g.244054958A>G | CA345674561 | ZBTB18 | c.*361A>G (n.*361A>G) c.1157A>G (p.Gln386Arg) c.*1114A>G (n.*1114A>G) c.1184A>G (p.Gln395Arg) | |
| 1 | g.244054958A>T | CA345674560 | ZBTB18 | c.*361A>T (n.*361A>T) c.1157A>T (p.Gln386Leu) c.*1114A>T (n.*1114A>T) c.1184A>T (p.Gln395Leu) | |
| 1 | g.244054959G>A | CA424410908 | ZBTB18 | c.*362G>A (n.*362G>A) c.1158G>A (p.Gln386=) c.*1115G>A (n.*1115G>A) c.1185G>A (p.Gln395=) | COSMIC COSMIC |
| 1 | g.244054959G>C | CA1484408 | ZBTB18 | c.*362G>C (n.*362G>C) c.1158G>C (p.Gln386His) c.*1115G>C (n.*1115G>C) c.1185G>C (p.Gln395His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054959G= | CA1230659910 | ZBTB18 | c.*362G= (n.*362G=) c.1158G= (p.Gln386=) c.*1115G= (n.*1115G=) c.1185G= (p.Gln395=) | |
| 1 | g.244054959G>T | CA345674563 | ZBTB18 | c.*362G>T (n.*362G>T) c.1158G>T (p.Gln386His) c.*1115G>T (n.*1115G>T) c.1185G>T (p.Gln395His) | ClinVar dbSNP |
| 1 | g.244054960A>C | CA345674564 | ZBTB18 | c.*363A>C (n.*363A>C) c.1159A>C (p.Ile387Leu) c.*1116A>C (n.*1116A>C) c.1186A>C (p.Ile396Leu) | |
| 1 | g.244054960A>G | CA345674566 | ZBTB18 | c.*363A>G (n.*363A>G) c.1159A>G (p.Ile387Val) c.*1116A>G (n.*1116A>G) c.1186A>G (p.Ile396Val) | |
| 1 | g.244054960A>T | CA345674565 | ZBTB18 | c.*363A>T (n.*363A>T) c.1159A>T (p.Ile387Phe) c.*1116A>T (n.*1116A>T) c.1186A>T (p.Ile396Phe) | |
| 1 | g.244054961T>A | CA345674567 | ZBTB18 | c.*364T>A (n.*364T>A) c.1160T>A (p.Ile387Asn) c.*1117T>A (n.*1117T>A) c.1187T>A (p.Ile396Asn) | |
| 1 | g.244054961T>C | CA345674569 | ZBTB18 | c.*364T>C (n.*364T>C) c.1160T>C (p.Ile387Thr) c.*1117T>C (n.*1117T>C) c.1187T>C (p.Ile396Thr) | gnomAD v4 |
| 1 | g.244054961T>G | CA345674568 | ZBTB18 | c.*364T>G (n.*364T>G) c.1160T>G (p.Ile387Ser) c.*1117T>G (n.*1117T>G) c.1187T>G (p.Ile396Ser) | |
| 1 | g.244054962C>A | CA424410914 | ZBTB18 | c.*365C>A (n.*365C>A) c.1161C>A (p.Ile387=) c.*1118C>A (n.*1118C>A) c.1188C>A (p.Ile396=) | gnomAD v4 |
| 1 | g.244054962C= | CA1230659911 | ZBTB18 | c.*365C= (n.*365C=) c.1161C= (p.Ile387=) c.*1118C= (n.*1118C=) c.1188C= (p.Ile396=) | |
| 1 | g.244054962C>G | CA345674570 | ZBTB18 | c.*365C>G (n.*365C>G) c.1161C>G (p.Ile387Met) c.*1118C>G (n.*1118C>G) c.1188C>G (p.Ile396Met) | |
| 1 | g.244054962C>T | CA1484409 | ZBTB18 | c.*365C>T (n.*365C>T) c.1161C>T (p.Ile387=) c.*1118C>T (n.*1118C>T) c.1188C>T (p.Ile396=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054963C>A | CA345674571 | ZBTB18 | c.*366C>A (n.*366C>A) c.1162C>A (p.His388Asn) c.*1119C>A (n.*1119C>A) c.1189C>A (p.His397Asn) | |
| 1 | g.244054963C= | CA1230659912 | ZBTB18 | c.*366C= (n.*366C=) c.1162C= (p.His388=) c.*1119C= (n.*1119C=) c.1189C= (p.His397=) | |
| 1 | g.244054963C>G | CA345674572 | ZBTB18 | c.*366C>G (n.*366C>G) c.1162C>G (p.His388Asp) c.*1119C>G (n.*1119C>G) c.1189C>G (p.His397Asp) | dbSNP |
| 1 | g.244054963C>T | CA345674573 | ZBTB18 | c.*366C>T (n.*366C>T) c.1162C>T (p.His388Tyr) c.*1119C>T (n.*1119C>T) c.1189C>T (p.His397Tyr) | |
| 1 | g.244054964A>C | CA345674574 | ZBTB18 | c.*367A>C (n.*367A>C) c.1163A>C (p.His388Pro) c.*1120A>C (n.*1120A>C) c.1190A>C (p.His397Pro) | |
| 1 | g.244054964A>G | CA345674575 | ZBTB18 | c.*367A>G (n.*367A>G) c.1163A>G (p.His388Arg) c.*1120A>G (n.*1120A>G) c.1190A>G (p.His397Arg) | |
| 1 | g.244054964A>T | CA345674576 | ZBTB18 | c.*367A>T (n.*367A>T) c.1163A>T (p.His388Leu) c.*1120A>T (n.*1120A>T) c.1190A>T (p.His397Leu) | |
| 1 | g.244054965C>A | CA345674577 | ZBTB18 | c.*368C>A (n.*368C>A) c.1164C>A (p.His388Gln) c.*1121C>A (n.*1121C>A) c.1191C>A (p.His397Gln) | |
| 1 | g.244054965C= | CA1144169932 | ZBTB18 | c.*368C= (n.*368C=) c.1164C= (p.His388=) c.*1121C= (n.*1121C=) c.1191C= (p.His397=) | |
| 1 | g.244054965C>G | CA345674578 | ZBTB18 | c.*368C>G (n.*368C>G) c.1164C>G (p.His388Gln) c.*1121C>G (n.*1121C>G) c.1191C>G (p.His397Gln) | |
| 1 | g.244054965C>T | CA1484410 | ZBTB18 | c.*368C>T (n.*368C>T) c.1164C>T (p.His388=) c.*1121C>T (n.*1121C>T) c.1191C>T (p.His397=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054966C>A | CA345674580 | ZBTB18 | c.*369C>A (n.*369C>A) c.1165C>A (p.Leu389Met) c.*1122C>A (n.*1122C>A) c.1192C>A (p.Leu398Met) | |
| 1 | g.244054966C= | CA1230659913 | ZBTB18 | c.*369C= (n.*369C=) c.1165C= (p.Leu389=) c.*1122C= (n.*1122C=) c.1192C= (p.Leu398=) | |
| 1 | g.244054966C>G | CA345674579 | ZBTB18 | c.*369C>G (n.*369C>G) c.1165C>G (p.Leu389Val) c.*1122C>G (n.*1122C>G) c.1192C>G (p.Leu398Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054966C>T | CA424410923 | ZBTB18 | c.*369C>T (n.*369C>T) c.1165C>T (p.Leu389=) c.*1122C>T (n.*1122C>T) c.1192C>T (p.Leu398=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054967T>A | CA345674581 | ZBTB18 | c.*370T>A (n.*370T>A) c.1166T>A (p.Leu389Gln) c.*1123T>A (n.*1123T>A) c.1193T>A (p.Leu398Gln) | |
| 1 | g.244054967T>C | CA345674582 | ZBTB18 | c.*370T>C (n.*370T>C) c.1166T>C (p.Leu389Pro) c.*1123T>C (n.*1123T>C) c.1193T>C (p.Leu398Pro) | |
| 1 | g.244054967T>G | CA345674583 | ZBTB18 | c.*370T>G (n.*370T>G) c.1166T>G (p.Leu389Arg) c.*1123T>G (n.*1123T>G) c.1193T>G (p.Leu398Arg) | |
| 1 | g.244054968G>A | CA424410944 | ZBTB18 | c.*371G>A (n.*371G>A) c.1167G>A (p.Leu389=) c.*1124G>A (n.*1124G>A) c.1194G>A (p.Leu398=) | gnomAD v4 |
| 1 | g.244054968G>C | CA424410946 | ZBTB18 | c.*371G>C (n.*371G>C) c.1167G>C (p.Leu389=) c.*1124G>C (n.*1124G>C) c.1194G>C (p.Leu398=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054968G= | CA1230659914 | ZBTB18 | c.*371G= (n.*371G=) c.1167G= (p.Leu389=) c.*1124G= (n.*1124G=) c.1194G= (p.Leu398=) | |
| 1 | g.244054968G>T | CA424410951 | ZBTB18 | c.*371G>T (n.*371G>T) c.1167G>T (p.Leu389=) c.*1124G>T (n.*1124G>T) c.1194G>T (p.Leu398=) | gnomAD v4 |
| 1 | g.244054969A= | CA1230659915 | ZBTB18 | c.*372A= (n.*372A=) c.1168A= (p.Ser390=) c.*1125A= (n.*1125A=) c.1195A= (p.Ser399=) | |
| 1 | g.244054969A>C | CA345674584 | ZBTB18 | c.*372A>C (n.*372A>C) c.1168A>C (p.Ser390Arg) c.*1125A>C (n.*1125A>C) c.1195A>C (p.Ser399Arg) | |
| 1 | g.244054969A>G | CA345674585 | ZBTB18 | c.*372A>G (n.*372A>G) c.1168A>G (p.Ser390Gly) c.*1125A>G (n.*1125A>G) c.1195A>G (p.Ser399Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054969A>T | CA345674586 | ZBTB18 | c.*372A>T (n.*372A>T) c.1168A>T (p.Ser390Cys) c.*1125A>T (n.*1125A>T) c.1195A>T (p.Ser399Cys) | COSMIC |
| 1 | g.244054970G>A | CA345674587 | ZBTB18 | c.*373G>A (n.*373G>A) c.1169G>A (p.Ser390Asn) c.*1126G>A (n.*1126G>A) c.1196G>A (p.Ser399Asn) | |
| 1 | g.244054970G>C | CA345674588 | ZBTB18 | c.*373G>C (n.*373G>C) c.1169G>C (p.Ser390Thr) c.*1126G>C (n.*1126G>C) c.1196G>C (p.Ser399Thr) | |
| 1 | g.244054970G>T | CA345674589 | ZBTB18 | c.*373G>T (n.*373G>T) c.1169G>T (p.Ser390Ile) c.*1126G>T (n.*1126G>T) c.1196G>T (p.Ser399Ile) | |
| 1 | g.244054971C>A | CA345674590 | ZBTB18 | c.*374C>A (n.*374C>A) c.1170C>A (p.Ser390Arg) c.*1127C>A (n.*1127C>A) c.1197C>A (p.Ser399Arg) | |
| 1 | g.244054971C>G | CA345674591 | ZBTB18 | c.*374C>G (n.*374C>G) c.1170C>G (p.Ser390Arg) c.*1127C>G (n.*1127C>G) c.1197C>G (p.Ser399Arg) | |
| 1 | g.244054971C>T | CA424410960 | ZBTB18 | c.*374C>T (n.*374C>T) c.1170C>T (p.Ser390=) c.*1127C>T (n.*1127C>T) c.1197C>T (p.Ser399=) | |
| 1 | g.244054972A>C | CA345674593 | ZBTB18 | c.*375A>C (n.*375A>C) c.1171A>C (p.Thr391Pro) c.*1128A>C (n.*1128A>C) c.1198A>C (p.Thr400Pro) | |
| 1 | g.244054972A>G | CA345674594 | ZBTB18 | c.*375A>G (n.*375A>G) c.1171A>G (p.Thr391Ala) c.*1128A>G (n.*1128A>G) c.1198A>G (p.Thr400Ala) | |
| 1 | g.244054972A>T | CA345674592 | ZBTB18 | c.*375A>T (n.*375A>T) c.1171A>T (p.Thr391Ser) c.*1128A>T (n.*1128A>T) c.1198A>T (p.Thr400Ser) | |
| 1 | g.244054973C>A | CA345674595 | ZBTB18 | c.*376C>A (n.*376C>A) c.1172C>A (p.Thr391Lys) c.*1129C>A (n.*1129C>A) c.1199C>A (p.Thr400Lys) | |
| 1 | g.244054973C= | CA1148891023 | ZBTB18 | c.*376C= (n.*376C=) c.1172C= (p.Thr391=) c.*1129C= (n.*1129C=) c.1199C= (p.Thr400=) | |
| 1 | g.244054973C>G | CA345674596 | ZBTB18 | c.*376C>G (n.*376C>G) c.1172C>G (p.Thr391Arg) c.*1129C>G (n.*1129C>G) c.1199C>G (p.Thr400Arg) | |
| 1 | g.244054973C>T | CA1484411 | ZBTB18 | c.*376C>T (n.*376C>T) c.1172C>T (p.Thr391Met) c.*1129C>T (n.*1129C>T) c.1199C>T (p.Thr400Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054974G>A | CA1484412 | ZBTB18 | c.*377G>A (n.*377G>A) c.1173G>A (p.Thr391=) c.*1130G>A (n.*1130G>A) c.1200G>A (p.Thr400=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054974G>C | CA424410966 | ZBTB18 | c.*377G>C (n.*377G>C) c.1173G>C (p.Thr391=) c.*1130G>C (n.*1130G>C) c.1200G>C (p.Thr400=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054974G= | CA1230659916 | ZBTB18 | c.*377G= (n.*377G=) c.1173G= (p.Thr391=) c.*1130G= (n.*1130G=) c.1200G= (p.Thr400=) | |
| 1 | g.244054974G>T | CA424410964 | ZBTB18 | c.*377G>T (n.*377G>T) c.1173G>T (p.Thr391=) c.*1130G>T (n.*1130G>T) c.1200G>T (p.Thr400=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054975C>A | CA345674597 | ZBTB18 | c.*378C>A (n.*378C>A) c.1174C>A (p.His392Asn) c.*1131C>A (n.*1131C>A) c.1201C>A (p.His401Asn) | |
| 1 | g.244054975C>G | CA345674598 | ZBTB18 | c.*378C>G (n.*378C>G) c.1174C>G (p.His392Asp) c.*1131C>G (n.*1131C>G) c.1201C>G (p.His401Asp) | |
| 1 | g.244054975C>T | CA345674599 | ZBTB18 | c.*378C>T (n.*378C>T) c.1174C>T (p.His392Tyr) c.*1131C>T (n.*1131C>T) c.1201C>T (p.His401Tyr) | |
| 1 | g.244054976A= | CA1230659917 | ZBTB18 | c.*379A= (n.*379A=) c.1175A= (p.His392=) c.*1132A= (n.*1132A=) c.1202A= (p.His401=) | |
| 1 | g.244054976A>C | CA345674600 | ZBTB18 | c.*379A>C (n.*379A>C) c.1175A>C (p.His392Pro) c.*1132A>C (n.*1132A>C) c.1202A>C (p.His401Pro) | dbSNP |
| 1 | g.244054976A>G | CA345674601 | ZBTB18 | c.*379A>G (n.*379A>G) c.1175A>G (p.His392Arg) c.*1132A>G (n.*1132A>G) c.1202A>G (p.His401Arg) | |
| 1 | g.244054976A>T | CA345674602 | ZBTB18 | c.*379A>T (n.*379A>T) c.1175A>T (p.His392Leu) c.*1132A>T (n.*1132A>T) c.1202A>T (p.His401Leu) | |
| 1 | g.244054977C>A | CA345674603 | ZBTB18 | c.*380C>A (n.*380C>A) c.1176C>A (p.His392Gln) c.*1133C>A (n.*1133C>A) c.1203C>A (p.His401Gln) | |
| 1 | g.244054977C= | CA1230659918 | ZBTB18 | c.*380C= (n.*380C=) c.1176C= (p.His392=) c.*1133C= (n.*1133C=) c.1203C= (p.His401=) | |
| 1 | g.244054977C>G | CA345674604 | ZBTB18 | c.*380C>G (n.*380C>G) c.1176C>G (p.His392Gln) c.*1133C>G (n.*1133C>G) c.1203C>G (p.His401Gln) | |
| 1 | g.244054977C>T | CA1484413 | ZBTB18 | c.*380C>T (n.*380C>T) c.1176C>T (p.His392=) c.*1133C>T (n.*1133C>T) c.1203C>T (p.His401=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054978T>A | CA345674607 | ZBTB18 | c.*381T>A (n.*381T>A) c.1177T>A (p.Phe393Ile) c.*1134T>A (n.*1134T>A) c.1204T>A (p.Phe402Ile) | |
| 1 | g.244054978T>C | CA345674606 | ZBTB18 | c.*381T>C (n.*381T>C) c.1177T>C (p.Phe393Leu) c.*1134T>C (n.*1134T>C) c.1204T>C (p.Phe402Leu) | COSMIC COSMIC |
| 1 | g.244054978T>G | CA345674605 | ZBTB18 | c.*381T>G (n.*381T>G) c.1177T>G (p.Phe393Val) c.*1134T>G (n.*1134T>G) c.1204T>G (p.Phe402Val) | |
| 1 | g.244054979T>A | CA345674608 | ZBTB18 | c.*382T>A (n.*382T>A) c.1178T>A (p.Phe393Tyr) c.*1135T>A (n.*1135T>A) c.1205T>A (p.Phe402Tyr) | |
| 1 | g.244054979T>C | CA345674609 | ZBTB18 | c.*382T>C (n.*382T>C) c.1178T>C (p.Phe393Ser) c.*1135T>C (n.*1135T>C) c.1205T>C (p.Phe402Ser) | gnomAD v4 |
| 1 | g.244054979T>G | CA345674610 | ZBTB18 | c.*382T>G (n.*382T>G) c.1178T>G (p.Phe393Cys) c.*1135T>G (n.*1135T>G) c.1205T>G (p.Phe402Cys) | gnomAD v4 |
| 1 | g.244054980C>A | CA345674611 | ZBTB18 | c.*383C>A (n.*383C>A) c.1179C>A (p.Phe393Leu) c.*1136C>A (n.*1136C>A) c.1206C>A (p.Phe402Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054980C= | CA1230659919 | ZBTB18 | c.*383C= (n.*383C=) c.1179C= (p.Phe393=) c.*1136C= (n.*1136C=) c.1206C= (p.Phe402=) | |
| 1 | g.244054980C>G | CA345674612 | ZBTB18 | c.*383C>G (n.*383C>G) c.1179C>G (p.Phe393Leu) c.*1136C>G (n.*1136C>G) c.1206C>G (p.Phe402Leu) | gnomAD v4 |
| 1 | g.244054980C>T | CA424410978 | ZBTB18 | c.*383C>T (n.*383C>T) c.1179C>T (p.Phe393=) c.*1136C>T (n.*1136C>T) c.1206C>T (p.Phe402=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054981del | CA2573132972 | ZBTB18 | c.*384del (n.*384del) c.1180del (p.Arg394AlafsTer?) c.*1137del (n.*1137del) c.1207del (p.Arg403AlafsTer?) | ClinVar dbSNP |
| 1 | g.244054981C>A | CA345674613 | ZBTB18 | c.*384C>A (n.*384C>A) c.1180C>A (p.Arg394Ser) c.*1137C>A (n.*1137C>A) c.1207C>A (p.Arg403Ser) | |
| 1 | g.244054981C= | CA1144141179 | ZBTB18 | c.*384C= (n.*384C=) c.1180C= (p.Arg394=) c.*1137C= (n.*1137C=) c.1207C= (p.Arg403=) | |
| 1 | g.244054981C>G | CA345674614 | ZBTB18 | c.*384C>G (n.*384C>G) c.1180C>G (p.Arg394Gly) c.*1137C>G (n.*1137C>G) c.1207C>G (p.Arg403Gly) | |
| 1 | g.244054981C>T | CA1484414 | ZBTB18 | c.*384C>T (n.*384C>T) c.1180C>T (p.Arg394Cys) c.*1137C>T (n.*1137C>T) c.1207C>T (p.Arg403Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054982G>A | CA345674615 | ZBTB18 | c.*385G>A (n.*385G>A) c.1181G>A (p.Arg394His) c.*1138G>A (n.*1138G>A) c.1208G>A (p.Arg403His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054982G>C | CA345674616 | ZBTB18 | c.*385G>C (n.*385G>C) c.1181G>C (p.Arg394Pro) c.*1138G>C (n.*1138G>C) c.1208G>C (p.Arg403Pro) | gnomAD v4 |
| 1 | g.244054982G= | CA1230659920 | ZBTB18 | c.*385G= (n.*385G=) c.1181G= (p.Arg394=) c.*1138G= (n.*1138G=) c.1208G= (p.Arg403=) | |
| 1 | g.244054982G>T | CA345674617 | ZBTB18 | c.*385G>T (n.*385G>T) c.1181G>T (p.Arg394Leu) c.*1138G>T (n.*1138G>T) c.1208G>T (p.Arg403Leu) | |
| 1 | g.244054983C>A | CA424410985 | ZBTB18 | c.*386C>A (n.*386C>A) c.1182C>A (p.Arg394=) c.*1139C>A (n.*1139C>A) c.1209C>A (p.Arg403=) | |
| 1 | g.244054983C= | CA1230659921 | ZBTB18 | c.*386C= (n.*386C=) c.1182C= (p.Arg394=) c.*1139C= (n.*1139C=) c.1209C= (p.Arg403=) | |
| 1 | g.244054983C>G | CA424410986 | ZBTB18 | c.*386C>G (n.*386C>G) c.1182C>G (p.Arg394=) c.*1139C>G (n.*1139C>G) c.1209C>G (p.Arg403=) | |
| 1 | g.244054983C>T | CA1484415 | ZBTB18 | c.*386C>T (n.*386C>T) c.1182C>T (p.Arg394=) c.*1139C>T (n.*1139C>T) c.1209C>T (p.Arg403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054984G>A | CA345674620 | ZBTB18 | c.*387G>A (n.*387G>A) c.1183G>A (p.Glu395Lys) c.*1140G>A (n.*1140G>A) c.1210G>A (p.Glu404Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.244054984G>C | CA345674619 | ZBTB18 | c.*387G>C (n.*387G>C) c.1183G>C (p.Glu395Gln) c.*1140G>C (n.*1140G>C) c.1210G>C (p.Glu404Gln) | |
| 1 | g.244054984G>T | CA345674618 | ZBTB18 | c.*387G>T (n.*387G>T) c.1183G>T (p.Glu395Ter) c.*1140G>T (n.*1140G>T) c.1210G>T (p.Glu404Ter) | |
| 1 | g.244054985A>C | CA345674621 | ZBTB18 | c.*388A>C (n.*388A>C) c.1184A>C (p.Glu395Ala) c.*1141A>C (n.*1141A>C) c.1211A>C (p.Glu404Ala) | |
| 1 | g.244054985A>G | CA345674622 | ZBTB18 | c.*388A>G (n.*388A>G) c.1184A>G (p.Glu395Gly) c.*1141A>G (n.*1141A>G) c.1211A>G (p.Glu404Gly) | |
| 1 | g.244054985A>T | CA345674623 | ZBTB18 | c.*388A>T (n.*388A>T) c.1184A>T (p.Glu395Val) c.*1141A>T (n.*1141A>T) c.1211A>T (p.Glu404Val) | |
| 1 | g.244054986G>A | CA424410991 | ZBTB18 | c.*389G>A (n.*389G>A) c.1185G>A (p.Glu395=) c.*1142G>A (n.*1142G>A) c.1212G>A (p.Glu404=) | |
| 1 | g.244054986G>C | CA345674624 | ZBTB18 | c.*389G>C (n.*389G>C) c.1185G>C (p.Glu395Asp) c.*1142G>C (n.*1142G>C) c.1212G>C (p.Glu404Asp) | |
| 1 | g.244054986G>T | CA345674625 | ZBTB18 | c.*389G>T (n.*389G>T) c.1185G>T (p.Glu395Asp) c.*1142G>T (n.*1142G>T) c.1212G>T (p.Glu404Asp) | |
| 1 | g.244054987C>A | CA345674626 | ZBTB18 | c.*390C>A (n.*390C>A) c.1186C>A (p.Gln396Lys) c.*1143C>A (n.*1143C>A) c.1213C>A (p.Gln405Lys) | |
| 1 | g.244054987C= | CA1230659922 | ZBTB18 | c.*390C= (n.*390C=) c.1186C= (p.Gln396=) c.*1143C= (n.*1143C=) c.1213C= (p.Gln405=) | |
| 1 | g.244054987C>G | CA1484416 | ZBTB18 | c.*390C>G (n.*390C>G) c.1186C>G (p.Gln396Glu) c.*1143C>G (n.*1143C>G) c.1213C>G (p.Gln405Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054987C>T | CA345674627 | ZBTB18 | c.*390C>T (n.*390C>T) c.1186C>T (p.Gln396Ter) c.*1143C>T (n.*1143C>T) c.1213C>T (p.Gln405Ter) | |
| 1 | g.244054988A>C | CA345674628 | ZBTB18 | c.*391A>C (n.*391A>C) c.1187A>C (p.Gln396Pro) c.*1144A>C (n.*1144A>C) c.1214A>C (p.Gln405Pro) | |
| 1 | g.244054988A>G | CA345674629 | ZBTB18 | c.*391A>G (n.*391A>G) c.1187A>G (p.Gln396Arg) c.*1144A>G (n.*1144A>G) c.1214A>G (p.Gln405Arg) | |
| 1 | g.244054988A>T | CA345674630 | ZBTB18 | c.*391A>T (n.*391A>T) c.1187A>T (p.Gln396Leu) c.*1144A>T (n.*1144A>T) c.1214A>T (p.Gln405Leu) | |
| 1 | g.244054989G>A | CA424410994 | ZBTB18 | c.*392G>A (n.*392G>A) c.1188G>A (p.Gln396=) c.*1145G>A (n.*1145G>A) c.1215G>A (p.Gln405=) | |
| 1 | g.244054989G>C | CA345674631 | ZBTB18 | c.*392G>C (n.*392G>C) c.1188G>C (p.Gln396His) c.*1145G>C (n.*1145G>C) c.1215G>C (p.Gln405His) | |
| 1 | g.244054989G>T | CA345674632 | ZBTB18 | c.*392G>T (n.*392G>T) c.1188G>T (p.Gln396His) c.*1145G>T (n.*1145G>T) c.1215G>T (p.Gln405His) | |
| 1 | g.244054990G>A | CA345674635 | ZBTB18 | c.*393G>A (n.*393G>A) c.1189G>A (p.Asp397Asn) c.*1146G>A (n.*1146G>A) c.1216G>A (p.Asp406Asn) | gnomAD v4 |
| 1 | g.244054990G>C | CA345674634 | ZBTB18 | c.*393G>C (n.*393G>C) c.1189G>C (p.Asp397His) c.*1146G>C (n.*1146G>C) c.1216G>C (p.Asp406His) | |
| 1 | g.244054990G>T | CA345674633 | ZBTB18 | c.*393G>T (n.*393G>T) c.1189G>T (p.Asp397Tyr) c.*1146G>T (n.*1146G>T) c.1216G>T (p.Asp406Tyr) | |
| 1 | g.244054991A>C | CA345674636 | ZBTB18 | c.*394A>C (n.*394A>C) c.1190A>C (p.Asp397Ala) c.*1147A>C (n.*1147A>C) c.1217A>C (p.Asp406Ala) | |
| 1 | g.244054991A>G | CA345674637 | ZBTB18 | c.*394A>G (n.*394A>G) c.1190A>G (p.Asp397Gly) c.*1147A>G (n.*1147A>G) c.1217A>G (p.Asp406Gly) | |
| 1 | g.244054991A>T | CA345674638 | ZBTB18 | c.*394A>T (n.*394A>T) c.1190A>T (p.Asp397Val) c.*1147A>T (n.*1147A>T) c.1217A>T (p.Asp406Val) | gnomAD v4 |
| 1 | g.244054992C>A | CA345674639 | ZBTB18 | c.*395C>A (n.*395C>A) c.1191C>A (p.Asp397Glu) c.*1148C>A (n.*1148C>A) c.1218C>A (p.Asp406Glu) | |
| 1 | g.244054992C= | CA1148276362 | ZBTB18 | c.*395C= (n.*395C=) c.1191C= (p.Asp397=) c.*1148C= (n.*1148C=) c.1218C= (p.Asp406=) | |
| 1 | g.244054992C>G | CA345674640 | ZBTB18 | c.*395C>G (n.*395C>G) c.1191C>G (p.Asp397Glu) c.*1148C>G (n.*1148C>G) c.1218C>G (p.Asp406Glu) | gnomAD v4 |
| 1 | g.244054992C>T | CA1484417 | ZBTB18 | c.*395C>T (n.*395C>T) c.1191C>T (p.Asp397=) c.*1148C>T (n.*1148C>T) c.1218C>T (p.Asp406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |