| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114674723_114674737dup | CA2621130036 | TBX3 | c.1138_1152dup (p.Cys384_Arg385insSerGluGluProCys) c.1198_1212dup (p.Cys404_Arg405insSerGluGluProCys) | gnomAD v4 |
| 12 | g.114674728_114674739del | CA2741290931 | TBX3 | c.1137_1148del (p.Ser380_Pro383del) c.1197_1208del (p.Ser400_Pro403del) | |
| 12 | g.114674734C>A | CA386869529 | TBX3 | c.1141G>T (p.Glu381Ter) c.1201G>T (p.Glu401Ter) | ClinVar |
| 12 | g.114674734C= | CA2064766732 | TBX3 | c.1141G= (p.Glu381=) c.1201G= (p.Glu401=) | |
| 12 | g.114674734C>G | CA386869530 | TBX3 | c.1141G>C (p.Glu381Gln) c.1201G>C (p.Glu401Gln) | gnomAD v4 |
| 12 | g.114674734C>T | CA386869531 | TBX3 | c.1141G>A (p.Glu381Lys) c.1201G>A (p.Glu401Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674737_114674760dup | CA2621130037 | TBX3 | c.1118_1141dup (p.Ser380_Glu381insAlaLysIleSerThrThrThrSer) c.1178_1201dup (p.Ser400_Glu401insAlaLysIleSerThrThrThrSer) | gnomAD v4 |
| 12 | g.114674735C>A | CA482136275 | TBX3 | c.1140G>T (p.Ser380=) c.1200G>T (p.Ser400=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674735C= | CA2064766736 | TBX3 | c.1140G= (p.Ser380=) c.1200G= (p.Ser400=) | |
| 12 | g.114674735C>G | CA482136277 | TBX3 | c.1140G>C (p.Ser380=) c.1200G>C (p.Ser400=) | dbSNP |
| 12 | g.114674735C>T | CA6809986 | TBX3 | c.1140G>A (p.Ser380=) c.1200G>A (p.Ser400=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674736G>A | CA386869534 | TBX3 | c.1139C>T (p.Ser380Leu) c.1199C>T (p.Ser400Leu) | dbSNP gnomAD v4 |
| 12 | g.114674736G>C | CA386869533 | TBX3 | c.1139C>G (p.Ser380Trp) c.1199C>G (p.Ser400Trp) | dbSNP |
| 12 | g.114674736G= | CA2064766741 | TBX3 | c.1139C= (p.Ser380=) c.1199C= (p.Ser400=) | |
| 12 | g.114674736G>T | CA386869532 | TBX3 | c.1139C>A (p.Ser380Ter) c.1199C>A (p.Ser400Ter) | dbSNP gnomAD v4 |
| 12 | g.114674737A>C | CA386869535 | TBX3 | c.1138T>G (p.Ser380Ala) c.1198T>G (p.Ser400Ala) | |
| 12 | g.114674737A>G | CA386869536 | TBX3 | c.1138T>C (p.Ser380Pro) c.1198T>C (p.Ser400Pro) | |
| 12 | g.114674737A>T | CA386869537 | TBX3 | c.1138T>A (p.Ser380Thr) c.1198T>A (p.Ser400Thr) | dbSNP |
| 12 | g.114674738C>A | CA482136283 | TBX3 | c.1137G>T (p.Thr379=) c.1197G>T (p.Thr399=) | |
| 12 | g.114674738C= | CA2064766743 | TBX3 | c.1137G= (p.Thr379=) c.1197G= (p.Thr399=) | |
| 12 | g.114674738C>G | CA482136284 | TBX3 | c.1137G>C (p.Thr379=) c.1197G>C (p.Thr399=) | dbSNP |
| 12 | g.114674738C>T | CA482136285 | TBX3 | c.1137G>A (p.Thr379=) c.1197G>A (p.Thr399=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674739G>A | CA6809987 | TBX3 | c.1136C>T (p.Thr379Met) c.1196C>T (p.Thr399Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674739G>C | CA386869538 | TBX3 | c.1136C>G (p.Thr379Arg) c.1196C>G (p.Thr399Arg) | |
| 12 | g.114674739G= | CA2064766747 | TBX3 | c.1136C= (p.Thr379=) c.1196C= (p.Thr399=) | |
| 12 | g.114674739G>T | CA386869539 | TBX3 | c.1136C>A (p.Thr379Lys) c.1196C>A (p.Thr399Lys) | gnomAD v4 |
| 12 | g.114674739dup | CA2695217428 | TBX3 | c.1136dup (p.Ser380ValfsTer7) c.1196dup (p.Ser400ValfsTer7) | |
| 12 | g.114674743_114674748dup | CA2621130038 | TBX3 | c.1131_1136dup (p.Thr379_Ser380insThrThr) c.1191_1196dup (p.Thr399_Ser400insThrThr) | gnomAD v4 |
| 12 | g.114674740T>A | CA386869542 | TBX3 | c.1135A>T (p.Thr379Ser) c.1195A>T (p.Thr399Ser) | |
| 12 | g.114674740T>C | CA386869540 | TBX3 | c.1135A>G (p.Thr379Ala) c.1195A>G (p.Thr399Ala) | |
| 12 | g.114674740T>G | CA386869541 | TBX3 | c.1135A>C (p.Thr379Pro) c.1195A>C (p.Thr399Pro) | |
| 12 | g.114674741G>A | CA482136290 | TBX3 | c.1134C>T (p.Thr378=) c.1194C>T (p.Thr398=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674741G>C | CA482136293 | TBX3 | c.1134C>G (p.Thr378=) c.1194C>G (p.Thr398=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674741G= | CA2064766750 | TBX3 | c.1134C= (p.Thr378=) c.1194C= (p.Thr398=) | |
| 12 | g.114674741G>T | CA482136291 | TBX3 | c.1134C>A (p.Thr378=) c.1194C>A (p.Thr398=) | gnomAD v4 |
| 12 | g.114674742G>A | CA386869543 | TBX3 | c.1133C>T (p.Thr378Ile) c.1193C>T (p.Thr398Ile) | |
| 12 | g.114674742G>C | CA386869544 | TBX3 | c.1133C>G (p.Thr378Ser) c.1193C>G (p.Thr398Ser) | |
| 12 | g.114674742G>T | CA386869545 | TBX3 | c.1133C>A (p.Thr378Asn) c.1193C>A (p.Thr398Asn) | gnomAD v4 |
| 12 | g.114674743T>A | CA386869546 | TBX3 | c.1132A>T (p.Thr378Ser) c.1192A>T (p.Thr398Ser) | |
| 12 | g.114674743T>C | CA386869547 | TBX3 | c.1132A>G (p.Thr378Ala) c.1192A>G (p.Thr398Ala) | |
| 12 | g.114674743T>G | CA386869548 | TBX3 | c.1132A>C (p.Thr378Pro) c.1192A>C (p.Thr398Pro) | dbSNP |
| 12 | g.114674743T= | CA2064766754 | TBX3 | c.1132A= (p.Thr378=) c.1192A= (p.Thr398=) | |
| 12 | g.114674744G>A | CA482136298 | TBX3 | c.1131C>T (p.Thr377=) c.1191C>T (p.Thr397=) | gnomAD v4 |
| 12 | g.114674744G>C | CA482136299 | TBX3 | c.1131C>G (p.Thr377=) c.1191C>G (p.Thr397=) | gnomAD v4 |
| 12 | g.114674744G>T | CA482136300 | TBX3 | c.1131C>A (p.Thr377=) c.1191C>A (p.Thr397=) | gnomAD v4 |
| 12 | g.114674745G>A | CA386869549 | TBX3 | c.1130C>T (p.Thr377Ile) c.1190C>T (p.Thr397Ile) | |
| 12 | g.114674745G>C | CA386869550 | TBX3 | c.1130C>G (p.Thr377Ser) c.1190C>G (p.Thr397Ser) | |
| 12 | g.114674745G>T | CA386869551 | TBX3 | c.1130C>A (p.Thr377Asn) c.1190C>A (p.Thr397Asn) | gnomAD v4 |
| 12 | g.114674746T>A | CA386869552 | TBX3 | c.1129A>T (p.Thr377Ser) c.1189A>T (p.Thr397Ser) | |
| 12 | g.114674746T>C | CA386869553 | TBX3 | c.1129A>G (p.Thr377Ala) c.1189A>G (p.Thr397Ala) | gnomAD v4 |
| 12 | g.114674746T>G | CA386869554 | TBX3 | c.1129A>C (p.Thr377Pro) c.1189A>C (p.Thr397Pro) | dbSNP |
| 12 | g.114674746T= | CA2064766758 | TBX3 | c.1129A= (p.Thr377=) c.1189A= (p.Thr397=) | |
| 12 | g.114674746_114674749delinsTGGA | CA2064766757 | TBX3 | c.1126_1129delinsTCCA (p.Ser376=) c.1186_1189delinsTCCA (p.Ser396=) | |
| 12 | g.114674747G>A | CA482136318 | TBX3 | c.1128C>T (p.Ser376=) c.1188C>T (p.Ser396=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674747G>C | CA482136320 | TBX3 | c.1128C>G (p.Ser376=) c.1188C>G (p.Ser396=) | |
| 12 | g.114674747G= | CA2064766765 | TBX3 | c.1128C= (p.Ser376=) c.1188C= (p.Ser396=) | |
| 12 | g.114674747G>T | CA482136321 | TBX3 | c.1128C>A (p.Ser376=) c.1188C>A (p.Ser396=) | gnomAD v4 |
| 12 | g.114674748_114674750del | CA6809988 | TBX3 | c.1126_1128del (p.Ser376del) c.1186_1188del (p.Ser396del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674748G>A | CA386869556 | TBX3 | c.1127C>T (p.Ser376Phe) c.1187C>T (p.Ser396Phe) | |
| 12 | g.114674748G>C | CA6809989 | TBX3 | c.1127C>G (p.Ser376Cys) c.1187C>G (p.Ser396Cys) | dbSNP ExAC gnomAD v2 |
| 12 | g.114674748G= | CA2064766770 | TBX3 | c.1127C= (p.Ser376=) c.1187C= (p.Ser396=) | |
| 12 | g.114674748G>T | CA386869555 | TBX3 | c.1127C>A (p.Ser376Tyr) c.1187C>A (p.Ser396Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674749A= | CA2064766776 | TBX3 | c.1126T= (p.Ser376=) c.1186T= (p.Ser396=) | |
| 12 | g.114674749A>C | CA386869557 | TBX3 | c.1126T>G (p.Ser376Ala) c.1186T>G (p.Ser396Ala) | |
| 12 | g.114674749A>G | CA386869558 | TBX3 | c.1126T>C (p.Ser376Pro) c.1186T>C (p.Ser396Pro) | dbSNP gnomAD v4 |
| 12 | g.114674749A>T | CA6809990 | TBX3 | c.1126T>A (p.Ser376Thr) c.1186T>A (p.Ser396Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674750G>A | CA6809991 | TBX3 | c.1125C>T (p.Ile375=) c.1185C>T (p.Ile395=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674750G>C | CA386869559 | TBX3 | c.1125C>G (p.Ile375Met) c.1185C>G (p.Ile395Met) | |
| 12 | g.114674750G= | CA2064766785 | TBX3 | c.1125C= (p.Ile375=) c.1185C= (p.Ile395=) | |
| 12 | g.114674750G>T | CA482136326 | TBX3 | c.1125C>A (p.Ile375=) c.1185C>A (p.Ile395=) | |
| 12 | g.114674751A>C | CA386869560 | TBX3 | c.1124T>G (p.Ile375Ser) c.1184T>G (p.Ile395Ser) | |
| 12 | g.114674751A>G | CA386869561 | TBX3 | c.1124T>C (p.Ile375Thr) c.1184T>C (p.Ile395Thr) | |
| 12 | g.114674751A>T | CA386869562 | TBX3 | c.1124T>A (p.Ile375Asn) c.1184T>A (p.Ile395Asn) | |
| 12 | g.114674752T>A | CA386869563 | TBX3 | c.1123A>T (p.Ile375Phe) c.1183A>T (p.Ile395Phe) | |
| 12 | g.114674752T>C | CA386869564 | TBX3 | c.1123A>G (p.Ile375Val) c.1183A>G (p.Ile395Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674752T>G | CA386869565 | TBX3 | c.1123A>C (p.Ile375Leu) c.1183A>C (p.Ile395Leu) | |
| 12 | g.114674752T= | CA2064766791 | TBX3 | c.1123A= (p.Ile375=) c.1183A= (p.Ile395=) | |
| 12 | g.114674753C>A | CA386869566 | TBX3 | c.1122G>T (p.Lys374Asn) c.1182G>T (p.Lys394Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674753C= | CA2064766796 | TBX3 | c.1122G= (p.Lys374=) c.1182G= (p.Lys394=) | |
| 12 | g.114674753C>G | CA386869567 | TBX3 | c.1122G>C (p.Lys374Asn) c.1182G>C (p.Lys394Asn) | |
| 12 | g.114674753C>T | CA482136330 | TBX3 | c.1122G>A (p.Lys374=) c.1182G>A (p.Lys394=) | |
| 12 | g.114674754T>A | CA386869569 | TBX3 | c.1121A>T (p.Lys374Met) c.1181A>T (p.Lys394Met) | |
| 12 | g.114674754T>C | CA386869568 | TBX3 | c.1121A>G (p.Lys374Arg) c.1181A>G (p.Lys394Arg) | gnomAD v4 |
| 12 | g.114674754T>G | CA6809992 | TBX3 | c.1121A>C (p.Lys374Thr) c.1181A>C (p.Lys394Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674754T= | CA2064766800 | TBX3 | c.1121A= (p.Lys374=) c.1181A= (p.Lys394=) | |
| 12 | g.114674754_114674758delinsTTGGC | CA2064766804 | TBX3 | c.1117_1121delinsGCCAA (p.Ala373=) c.1177_1181delinsGCCAA (p.Ala393=) | |
| 12 | g.114674755T>A | CA386869570 | TBX3 | c.1120A>T (p.Lys374Ter) c.1180A>T (p.Lys394Ter) | |
| 12 | g.114674755T>C | CA386869571 | TBX3 | c.1120A>G (p.Lys374Glu) c.1180A>G (p.Lys394Glu) | |
| 12 | g.114674755T>G | CA386869572 | TBX3 | c.1120A>C (p.Lys374Gln) c.1180A>C (p.Lys394Gln) | |
| 12 | g.114674755_114674758del | CA952074297 | TBX3 | c.1117_1120del (p.Ala373ArgfsTer?) c.1177_1180del (p.Ala393ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674756G>A | CA482136334 | TBX3 | c.1119C>T (p.Ala373=) c.1179C>T (p.Ala393=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674756G>C | CA6809993 | TBX3 | c.1119C>G (p.Ala373=) c.1179C>G (p.Ala393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674756G= | CA2064766812 | TBX3 | c.1119C= (p.Ala373=) c.1179C= (p.Ala393=) | |
| 12 | g.114674756G>T | CA482136338 | TBX3 | c.1119C>A (p.Ala373=) c.1179C>A (p.Ala393=) | gnomAD v4 |
| 12 | g.114674757G>A | CA386869573 | TBX3 | c.1118C>T (p.Ala373Val) c.1178C>T (p.Ala393Val) | gnomAD v4 |
| 12 | g.114674757G>C | CA386869574 | TBX3 | c.1118C>G (p.Ala373Gly) c.1178C>G (p.Ala393Gly) | dbSNP |
| 12 | g.114674757G>T | CA386869575 | TBX3 | c.1118C>A (p.Ala373Asp) c.1178C>A (p.Ala393Asp) | gnomAD v4 |
| 12 | g.114674758C>A | CA386869576 | TBX3 | c.1117G>T (p.Ala373Ser) c.1177G>T (p.Ala393Ser) | gnomAD v4 |
| 12 | g.114674758C>G | CA386869577 | TBX3 | c.1117G>C (p.Ala373Pro) c.1177G>C (p.Ala393Pro) | |
| 12 | g.114674758C>T | CA386869578 | TBX3 | c.1117G>A (p.Ala373Thr) c.1177G>A (p.Ala393Thr) | dbSNP gnomAD v4 |
| 12 | g.114674759C>A | CA482136343 | TBX3 | c.1116G>T (p.Ala372=) c.1176G>T (p.Ala392=) | |
| 12 | g.114674759C>G | CA482136345 | TBX3 | c.1116G>C (p.Ala372=) c.1176G>C (p.Ala392=) | |
| 12 | g.114674759C>T | CA482136346 | TBX3 | c.1116G>A (p.Ala372=) c.1176G>A (p.Ala392=) | dbSNP gnomAD v4 |
| 12 | g.114674760G>A | CA386869579 | TBX3 | c.1115C>T (p.Ala372Val) c.1175C>T (p.Ala392Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.114674760G>C | CA386869580 | TBX3 | c.1115C>G (p.Ala372Gly) c.1175C>G (p.Ala392Gly) | |
| 12 | g.114674760G= | CA2064766815 | TBX3 | c.1115C= (p.Ala372=) c.1175C= (p.Ala392=) | |
| 12 | g.114674760G>T | CA386869581 | TBX3 | c.1115C>A (p.Ala372Glu) c.1175C>A (p.Ala392Glu) | gnomAD v4 |
| 12 | g.114674760_114674761delinsGC | CA2064766817 | TBX3 | c.1114_1115delinsGC (p.Ala372=) c.1174_1175delinsGC (p.Ala392=) | |
| 12 | g.114674761del | CA952074306 | TBX3 | c.1114del (p.Ala372ArgfsTer?) c.1174del (p.Ala392ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674761C>A | CA386869583 | TBX3 | c.1114G>T (p.Ala372Ser) c.1174G>T (p.Ala392Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674761C= | CA2064766823 | TBX3 | c.1114G= (p.Ala372=) c.1174G= (p.Ala392=) | |
| 12 | g.114674761C>G | CA386869584 | TBX3 | c.1114G>C (p.Ala372Pro) c.1174G>C (p.Ala392Pro) | dbSNP |
| 12 | g.114674761C>T | CA386869582 | TBX3 | c.1114G>A (p.Ala372Thr) c.1174G>A (p.Ala392Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674762G>A | CA6809994 | TBX3 | c.1113C>T (p.Asp371=) c.1173C>T (p.Asp391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.114674762G>C | CA386869586 | TBX3 | c.1113C>G (p.Asp371Glu) c.1173C>G (p.Asp391Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674762G= | CA2064766829 | TBX3 | c.1113C= (p.Asp371=) c.1173C= (p.Asp391=) | |
| 12 | g.114674762G>T | CA386869585 | TBX3 | c.1113C>A (p.Asp371Glu) c.1173C>A (p.Asp391Glu) | gnomAD v4 |
| 12 | g.114674763T>A | CA386869587 | TBX3 | c.1112A>T (p.Asp371Val) c.1172A>T (p.Asp391Val) | dbSNP gnomAD v4 |
| 12 | g.114674763T>C | CA386869588 | TBX3 | c.1112A>G (p.Asp371Gly) c.1172A>G (p.Asp391Gly) | dbSNP gnomAD v4 |
| 12 | g.114674763T>G | CA386869589 | TBX3 | c.1112A>C (p.Asp371Ala) c.1172A>C (p.Asp391Ala) | |
| 12 | g.114674763T= | CA2064766836 | TBX3 | c.1112A= (p.Asp371=) c.1172A= (p.Asp391=) | |
| 12 | g.114674763_114674767delinsTCGCA | CA2064766837 | TBX3 | c.1108_1112delinsTGCGA (p.Cys370=) c.1168_1172delinsTGCGA (p.Cys390=) | |
| 12 | g.114674764C>A | CA386869590 | TBX3 | c.1111G>T (p.Asp371Tyr) c.1171G>T (p.Asp391Tyr) | gnomAD v4 |
| 12 | g.114674764C= | CA2064766841 | TBX3 | c.1111G= (p.Asp371=) c.1171G= (p.Asp391=) | |
| 12 | g.114674764C>G | CA386869591 | TBX3 | c.1111G>C (p.Asp371His) c.1171G>C (p.Asp391His) | gnomAD v4 |
| 12 | g.114674764C>T | CA386869592 | TBX3 | c.1111G>A (p.Asp371Asn) c.1171G>A (p.Asp391Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674764_114674767del | CA952074317 | TBX3 | c.1108_1111del (p.Cys370ThrfsTer?) c.1168_1171del (p.Cys390ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674765G>A | CA482136352 | TBX3 | c.1110C>T (p.Cys370=) c.1170C>T (p.Cys390=) | dbSNP gnomAD v4 |
| 12 | g.114674765G>C | CA386869593 | TBX3 | c.1110C>G (p.Cys370Trp) c.1170C>G (p.Cys390Trp) | |
| 12 | g.114674765G= | CA2064766845 | TBX3 | c.1110C= (p.Cys370=) c.1170C= (p.Cys390=) | |
| 12 | g.114674765G>T | CA386869594 | TBX3 | c.1110C>A (p.Cys370Ter) c.1170C>A (p.Cys390Ter) | gnomAD v4 |
| 12 | g.114674766C>A | CA386869595 | TBX3 | c.1109G>T (p.Cys370Phe) c.1169G>T (p.Cys390Phe) | dbSNP gnomAD v4 |
| 12 | g.114674766C= | CA2064766846 | TBX3 | c.1109G= (p.Cys370=) c.1169G= (p.Cys390=) | |
| 12 | g.114674766C>G | CA386869596 | TBX3 | c.1109G>C (p.Cys370Ser) c.1169G>C (p.Cys390Ser) | |
| 12 | g.114674766C>T | CA386869597 | TBX3 | c.1109G>A (p.Cys370Tyr) c.1169G>A (p.Cys390Tyr) | gnomAD v3 gnomAD v4 |
| 12 | g.114674767A= | CA2064766851 | TBX3 | c.1108T= (p.Cys370=) c.1168T= (p.Cys390=) | |
| 12 | g.114674767A>C | CA386869599 | TBX3 | c.1108T>G (p.Cys370Gly) c.1168T>G (p.Cys390Gly) | |
| 12 | g.114674767A>G | CA6809995 | TBX3 | c.1108T>C (p.Cys370Arg) c.1168T>C (p.Cys390Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674767A>T | CA386869598 | TBX3 | c.1108T>A (p.Cys370Ser) c.1168T>A (p.Cys390Ser) | gnomAD v4 |
| 12 | g.114674767_114674797delinsAGGCCTCGGGGCCATGCTCCTCTTTGCTCTC | CA2064766853 | TBX3 | c.1078_1108delinsGAGAGCAAAGAGGAGCATGGCCCCGAGGCCT (p.Glu360=) c.1138_1168delinsGAGAGCAAAGAGGAGCATGGCCCCGAGGCCT (p.Glu380=) | |
| 12 | g.114674768G>A | CA482136355 | TBX3 | c.1107C>T (p.Ala369=) c.1167C>T (p.Ala389=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674768G>C | CA482136356 | TBX3 | c.1107C>G (p.Ala369=) c.1167C>G (p.Ala389=) | |
| 12 | g.114674768G= | CA2064766860 | TBX3 | c.1107C= (p.Ala369=) c.1167C= (p.Ala389=) | |
| 12 | g.114674768G>T | CA482136357 | TBX3 | c.1107C>A (p.Ala369=) c.1167C>A (p.Ala389=) | gnomAD v4 |
| 12 | g.114674776_114674805del | CA2064766856 | TBX3 | c.1078_1107del (p.Glu360_Ala369del) c.1138_1167del (p.Glu380_Ala389del) | dbSNP |
| 12 | g.114674769G>A | CA386869600 | TBX3 | c.1106C>T (p.Ala369Val) c.1166C>T (p.Ala389Val) | dbSNP |
| 12 | g.114674769G>C | CA386869601 | TBX3 | c.1106C>G (p.Ala369Gly) c.1166C>G (p.Ala389Gly) | dbSNP |
| 12 | g.114674769G>T | CA386869602 | TBX3 | c.1106C>A (p.Ala369Asp) c.1166C>A (p.Ala389Asp) | gnomAD v4 |
| 12 | g.114674769_114674771delinsGCC | CA2064766865 | TBX3 | c.1104_1106delinsGGC (p.Glu368=) c.1164_1166delinsGGC (p.Glu388=) | |
| 12 | g.114674770C>A | CA386869603 | TBX3 | c.1105G>T (p.Ala369Ser) c.1165G>T (p.Ala389Ser) | dbSNP gnomAD v4 |
| 12 | g.114674770C>G | CA386869604 | TBX3 | c.1105G>C (p.Ala369Pro) c.1165G>C (p.Ala389Pro) | |
| 12 | g.114674770C>T | CA386869605 | TBX3 | c.1105G>A (p.Ala369Thr) c.1165G>A (p.Ala389Thr) | gnomAD v4 |
| 12 | g.114674770_114674771del | CA952074344 | TBX3 | c.1104_1105del (p.Glu368AspfsTer18) c.1164_1165del (p.Glu388AspfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674771_114674773del | CA2621130039 | TBX3 | c.1103_1105del (p.Glu368del) c.1163_1165del (p.Glu388del) | gnomAD v4 |
| 12 | g.114674771C>A | CA386869606 | TBX3 | c.1104G>T (p.Glu368Asp) c.1164G>T (p.Glu388Asp) | gnomAD v4 COSMIC |
| 12 | g.114674771C= | CA2064766872 | TBX3 | c.1104G= (p.Glu368=) c.1164G= (p.Glu388=) | |
| 12 | g.114674771C>G | CA6809996 | TBX3 | c.1104G>C (p.Glu368Asp) c.1164G>C (p.Glu388Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674771C>T | CA482136361 | TBX3 | c.1104G>A (p.Glu368=) c.1164G>A (p.Glu388=) | dbSNP gnomAD v4 |
| 12 | g.114674772T>A | CA386869607 | TBX3 | c.1103A>T (p.Glu368Val) c.1163A>T (p.Glu388Val) | dbSNP |
| 12 | g.114674772T>C | CA386869608 | TBX3 | c.1103A>G (p.Glu368Gly) c.1163A>G (p.Glu388Gly) | gnomAD v4 |
| 12 | g.114674772T>G | CA386869609 | TBX3 | c.1103A>C (p.Glu368Ala) c.1163A>C (p.Glu388Ala) | |
| 12 | g.114674773C>A | CA386869611 | TBX3 | c.1102G>T (p.Glu368Ter) c.1162G>T (p.Glu388Ter) | |
| 12 | g.114674773C= | CA2064766874 | TBX3 | c.1102G= (p.Glu368=) c.1162G= (p.Glu388=) | |
| 12 | g.114674773C>G | CA386869612 | TBX3 | c.1102G>C (p.Glu368Gln) c.1162G>C (p.Glu388Gln) | dbSNP gnomAD v2 |
| 12 | g.114674773C>T | CA386869610 | TBX3 | c.1102G>A (p.Glu368Lys) c.1162G>A (p.Glu388Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.114674773_114674776delinsCGGG | CA2064766880 | TBX3 | c.1099_1102delinsCCCG (p.Pro367=) c.1159_1162delinsCCCG (p.Pro387=) | |
| 12 | g.114674774G>A | CA6809998 | TBX3 | c.1101C>T (p.Pro367=) c.1161C>T (p.Pro387=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674774G>C | CA6809997 | TBX3 | c.1101C>G (p.Pro367=) c.1161C>G (p.Pro387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674774G= | CA2064766892 | TBX3 | c.1101C= (p.Pro367=) c.1161C= (p.Pro387=) | |
| 12 | g.114674774G>T | CA482136367 | TBX3 | c.1101C>A (p.Pro367=) c.1161C>A (p.Pro387=) | gnomAD v4 |
| 12 | g.114674777del | CA2621130041 | TBX3 | c.1101del (p.Glu368ArgfsTer?) c.1161del (p.Glu388ArgfsTer?) | gnomAD v4 |
| 12 | g.114674775_114674777del | CA952074354 | TBX3 | c.1099_1101del (p.Pro367del) c.1159_1161del (p.Pro387del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674775G>A | CA386869613 | TBX3 | c.1100C>T (p.Pro367Leu) c.1160C>T (p.Pro387Leu) | |
| 12 | g.114674775G>C | CA386869614 | TBX3 | c.1100C>G (p.Pro367Arg) c.1160C>G (p.Pro387Arg) | gnomAD v4 |
| 12 | g.114674775G>T | CA386869615 | TBX3 | c.1100C>A (p.Pro367His) c.1160C>A (p.Pro387His) | gnomAD v4 |
| 12 | g.114674776G>A | CA386869616 | TBX3 | c.1099C>T (p.Pro367Ser) c.1159C>T (p.Pro387Ser) | |
| 12 | g.114674776G>C | CA386869617 | TBX3 | c.1099C>G (p.Pro367Ala) c.1159C>G (p.Pro387Ala) | |
| 12 | g.114674776G>T | CA386869618 | TBX3 | c.1099C>A (p.Pro367Thr) c.1159C>A (p.Pro387Thr) | gnomAD v4 |
| 12 | g.114674777G>A | CA482136371 | TBX3 | c.1098C>T (p.Gly366=) c.1158C>T (p.Gly386=) | dbSNP gnomAD v4 |
| 12 | g.114674777G>C | CA6809999 | TBX3 | c.1098C>G (p.Gly366=) c.1158C>G (p.Gly386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674777G= | CA2064766898 | TBX3 | c.1098C= (p.Gly366=) c.1158C= (p.Gly386=) | |
| 12 | g.114674777G>T | CA482136372 | TBX3 | c.1098C>A (p.Gly366=) c.1158C>A (p.Gly386=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674777_114674778delinsAA | CA2739277325 | TBX3 | c.1097_1098delinsTT (p.Gly366Val) c.1157_1158delinsTT (p.Gly386Val) | ClinVar |
| 12 | g.114674778C>A | CA386869619 | TBX3 | c.1097G>T (p.Gly366Val) c.1157G>T (p.Gly386Val) | ClinVar gnomAD v4 |
| 12 | g.114674778C>G | CA386869620 | TBX3 | c.1097G>C (p.Gly366Ala) c.1157G>C (p.Gly386Ala) | dbSNP |
| 12 | g.114674778C>T | CA386869621 | TBX3 | c.1097G>A (p.Gly366Asp) c.1157G>A (p.Gly386Asp) | gnomAD v4 |
| 12 | g.114674779C>A | CA386869623 | TBX3 | c.1096G>T (p.Gly366Cys) c.1156G>T (p.Gly386Cys) | gnomAD v4 |
| 12 | g.114674779C>G | CA386869624 | TBX3 | c.1096G>C (p.Gly366Arg) c.1156G>C (p.Gly386Arg) | |
| 12 | g.114674779C>T | CA386869622 | TBX3 | c.1096G>A (p.Gly366Ser) c.1156G>A (p.Gly386Ser) | gnomAD v4 |
| 12 | g.114674779_114674780insGTATCATTAAAAAA | CA952074362 | TBX3 | c.1095_1096insTTTTTTAATGATAC (p.Gly366PhefsTer?) c.1155_1156insTTTTTTAATGATAC (p.Gly386PhefsTer?) | gnomAD v3 gnomAD v4 |
| 12 | g.114674780A= | CA2064766906 | TBX3 | c.1095T= (p.His365=) c.1155T= (p.His385=) | |
| 12 | g.114674780A>C | CA386869625 | TBX3 | c.1095T>G (p.His365Gln) c.1155T>G (p.His385Gln) | |
| 12 | g.114674780A>G | CA6810000 | TBX3 | c.1095T>C (p.His365=) c.1155T>C (p.His385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674780A>T | CA386869626 | TBX3 | c.1095T>A (p.His365Gln) c.1155T>A (p.His385Gln) | |
| 12 | g.114674781T>A | CA386869627 | TBX3 | c.1094A>T (p.His365Leu) c.1154A>T (p.His385Leu) | |
| 12 | g.114674781T>C | CA6810001 | TBX3 | c.1094A>G (p.His365Arg) c.1154A>G (p.His385Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674781T>G | CA386869628 | TBX3 | c.1094A>C (p.His365Pro) c.1154A>C (p.His385Pro) | |
| 12 | g.114674781T= | CA2064766919 | TBX3 | c.1094A= (p.His365=) c.1154A= (p.His385=) | |
| 12 | g.114674782G>A | CA386869631 | TBX3 | c.1093C>T (p.His365Tyr) c.1153C>T (p.His385Tyr) | dbSNP gnomAD v4 |
| 12 | g.114674782G>C | CA386869629 | TBX3 | c.1093C>G (p.His365Asp) c.1153C>G (p.His385Asp) | gnomAD v4 |
| 12 | g.114674782G>T | CA386869630 | TBX3 | c.1093C>A (p.His365Asn) c.1153C>A (p.His385Asn) | gnomAD v4 |
| 12 | g.114674783C>A | CA386869632 | TBX3 | c.1092G>T (p.Glu364Asp) c.1152G>T (p.Glu384Asp) | gnomAD v4 |
| 12 | g.114674783C= | CA2064766921 | TBX3 | c.1092G= (p.Glu364=) c.1152G= (p.Glu384=) | |
| 12 | g.114674783C>G | CA386869633 | TBX3 | c.1092G>C (p.Glu364Asp) c.1152G>C (p.Glu384Asp) | gnomAD v4 |
| 12 | g.114674783C>T | CA482136382 | TBX3 | c.1092G>A (p.Glu364=) c.1152G>A (p.Glu384=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674784T>A | CA386869634 | TBX3 | c.1091A>T (p.Glu364Val) c.1151A>T (p.Glu384Val) | |
| 12 | g.114674784T>C | CA244144043 | TBX3 | c.1091A>G (p.Glu364Gly) c.1151A>G (p.Glu384Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674784T>G | CA386869635 | TBX3 | c.1091A>C (p.Glu364Ala) c.1151A>C (p.Glu384Ala) | |
| 12 | g.114674784T= | CA2064766923 | TBX3 | c.1091A= (p.Glu364=) c.1151A= (p.Glu384=) | |
| 12 | g.114674785C>A | CA386869636 | TBX3 | c.1090G>T (p.Glu364Ter) c.1150G>T (p.Glu384Ter) | gnomAD v4 |
| 12 | g.114674785C= | CA2064766927 | TBX3 | c.1090G= (p.Glu364=) c.1150G= (p.Glu384=) | |
| 12 | g.114674785C>G | CA386869637 | TBX3 | c.1090G>C (p.Glu364Gln) c.1150G>C (p.Glu384Gln) | |
| 12 | g.114674785C>T | CA6810002 | TBX3 | c.1090G>A (p.Glu364Lys) c.1150G>A (p.Glu384Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674786C>A | CA386869638 | TBX3 | c.1089G>T (p.Glu363Asp) c.1149G>T (p.Glu383Asp) | |
| 12 | g.114674786C>G | CA386869639 | TBX3 | c.1089G>C (p.Glu363Asp) c.1149G>C (p.Glu383Asp) | |
| 12 | g.114674786C>T | CA482136385 | TBX3 | c.1089G>A (p.Glu363=) c.1149G>A (p.Glu383=) | dbSNP |
| 12 | g.114674787T>A | CA386869640 | TBX3 | c.1088A>T (p.Glu363Val) c.1148A>T (p.Glu383Val) | |
| 12 | g.114674787T>C | CA386869642 | TBX3 | c.1088A>G (p.Glu363Gly) c.1148A>G (p.Glu383Gly) | |
| 12 | g.114674787T>G | CA386869641 | TBX3 | c.1088A>C (p.Glu363Ala) c.1148A>C (p.Glu383Ala) | |
| 12 | g.114674788C>A | CA386869643 | TBX3 | c.1087G>T (p.Glu363Ter) c.1147G>T (p.Glu383Ter) | gnomAD v4 |
| 12 | g.114674788C>G | CA386869644 | TBX3 | c.1087G>C (p.Glu363Gln) c.1147G>C (p.Glu383Gln) | gnomAD v4 |
| 12 | g.114674788C>T | CA386869645 | TBX3 | c.1087G>A (p.Glu363Lys) c.1147G>A (p.Glu383Lys) | ClinVar gnomAD v4 COSMIC |
| 12 | g.114674789T>A | CA386869646 | TBX3 | c.1086A>T (p.Lys362Asn) c.1146A>T (p.Lys382Asn) | |
| 12 | g.114674789T>C | CA482136392 | TBX3 | c.1086A>G (p.Lys362=) c.1146A>G (p.Lys382=) | dbSNP gnomAD v4 |
| 12 | g.114674789T>G | CA386869647 | TBX3 | c.1086A>C (p.Lys362Asn) c.1146A>C (p.Lys382Asn) | |
| 12 | g.114674789T= | CA2064766935 | TBX3 | c.1086A= (p.Lys362=) c.1146A= (p.Lys382=) | |
| 12 | g.114674790T>A | CA386869648 | TBX3 | c.1085A>T (p.Lys362Ile) c.1145A>T (p.Lys382Ile) | |
| 12 | g.114674790T>C | CA6810003 | TBX3 | c.1085A>G (p.Lys362Arg) c.1145A>G (p.Lys382Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674790T>G | CA386869649 | TBX3 | c.1085A>C (p.Lys362Thr) c.1145A>C (p.Lys382Thr) | |
| 12 | g.114674790T= | CA2064766939 | TBX3 | c.1085A= (p.Lys362=) c.1145A= (p.Lys382=) | |
| 12 | g.114674791T>A | CA386869650 | TBX3 | c.1084A>T (p.Lys362Ter) c.1144A>T (p.Lys382Ter) | |
| 12 | g.114674791T>C | CA386869651 | TBX3 | c.1084A>G (p.Lys362Glu) c.1144A>G (p.Lys382Glu) | gnomAD v4 |
| 12 | g.114674791T>G | CA386869652 | TBX3 | c.1084A>C (p.Lys362Gln) c.1144A>C (p.Lys382Gln) | |
| 12 | g.114674792G>A | CA482136397 | TBX3 | c.1083C>T (p.Ser361=) c.1143C>T (p.Ser381=) | gnomAD v4 |
| 12 | g.114674792G>C | CA386869654 | TBX3 | c.1083C>G (p.Ser361Arg) c.1143C>G (p.Ser381Arg) | |
| 12 | g.114674792G>T | CA386869653 | TBX3 | c.1083C>A (p.Ser361Arg) c.1143C>A (p.Ser381Arg) | gnomAD v4 |
| 12 | g.114674793C>A | CA6810004 | TBX3 | c.1082G>T (p.Ser361Ile) c.1142G>T (p.Ser381Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674793C= | CA2064766941 | TBX3 | c.1082G= (p.Ser361=) c.1142G= (p.Ser381=) | |
| 12 | g.114674793C>G | CA386869655 | TBX3 | c.1082G>C (p.Ser361Thr) c.1142G>C (p.Ser381Thr) | |
| 12 | g.114674793C>T | CA386869656 | TBX3 | c.1082G>A (p.Ser361Asn) c.1142G>A (p.Ser381Asn) | dbSNP gnomAD v4 |
| 12 | g.114674794T>A | CA386869657 | TBX3 | c.1081A>T (p.Ser361Cys) c.1141A>T (p.Ser381Cys) | |
| 12 | g.114674794T>C | CA386869658 | TBX3 | c.1081A>G (p.Ser361Gly) c.1141A>G (p.Ser381Gly) | |
| 12 | g.114674794T>G | CA386869659 | TBX3 | c.1081A>C (p.Ser361Arg) c.1141A>C (p.Ser381Arg) | |
| 12 | g.114674794_114674800delinsTCTCGGC | CA2064766943 | TBX3 | c.1075_1081delinsGCCGAGA (p.Ala359=) c.1135_1141delinsGCCGAGA (p.Ala379=) | |
| 12 | g.114674795C>A | CA386869660 | TBX3 | c.1080G>T (p.Glu360Asp) c.1140G>T (p.Glu380Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674795C= | CA2064766952 | TBX3 | c.1080G= (p.Glu360=) c.1140G= (p.Glu380=) | |
| 12 | g.114674795C>G | CA6810005 | TBX3 | c.1080G>C (p.Glu360Asp) c.1140G>C (p.Glu380Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674795C>T | CA482136404 | TBX3 | c.1080G>A (p.Glu360=) c.1140G>A (p.Glu380=) | |
| 12 | g.114674801_114674806del | CA482136406 | TBX3 | c.1075_1080del (p.Ala359_Glu360del) c.1135_1140del (p.Ala379_Glu380del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674796_114674806del | CA2499221458 | TBX3 | c.1070_1080del (p.Ala357GlufsTer26) c.1130_1140del (p.Ala377GlufsTer26) | ClinVar dbSNP |
| 12 | g.114674796T>A | CA386869661 | TBX3 | c.1079A>T (p.Glu360Val) c.1139A>T (p.Glu380Val) | |
| 12 | g.114674796T>C | CA386869662 | TBX3 | c.1079A>G (p.Glu360Gly) c.1139A>G (p.Glu380Gly) | |
| 12 | g.114674796T>G | CA386869663 | TBX3 | c.1079A>C (p.Glu360Ala) c.1139A>C (p.Glu380Ala) | COSMIC |
| 12 | g.114674797C>A | CA244144066 | TBX3 | c.1078G>T (p.Glu360Ter) c.1138G>T (p.Glu380Ter) | dbSNP gnomAD v4 |
| 12 | g.114674797C= | CA2064766963 | TBX3 | c.1078G= (p.Glu360=) c.1138G= (p.Glu380=) | |
| 12 | g.114674797C>G | CA386869665 | TBX3 | c.1078G>C (p.Glu360Gln) c.1138G>C (p.Glu380Gln) | ClinVar dbSNP |
| 12 | g.114674797C>T | CA386869664 | TBX3 | c.1078G>A (p.Glu360Lys) c.1138G>A (p.Glu380Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674798G>A | CA482136412 | TBX3 | c.1077C>T (p.Ala359=) c.1137C>T (p.Ala379=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.114674798G>C | CA482136413 | TBX3 | c.1077C>G (p.Ala359=) c.1137C>G (p.Ala379=) | dbSNP |
| 12 | g.114674798G= | CA2064766965 | TBX3 | c.1077C= (p.Ala359=) c.1137C= (p.Ala379=) | |
| 12 | g.114674798G>T | CA482136410 | TBX3 | c.1077C>A (p.Ala359=) c.1137C>A (p.Ala379=) | gnomAD v4 |
| 12 | g.114674799G>A | CA386869666 | TBX3 | c.1076C>T (p.Ala359Val) c.1136C>T (p.Ala379Val) | dbSNP gnomAD v4 |
| 12 | g.114674799G>C | CA386869667 | TBX3 | c.1076C>G (p.Ala359Gly) c.1136C>G (p.Ala379Gly) | dbSNP gnomAD v4 |
| 12 | g.114674799G>T | CA386869668 | TBX3 | c.1076C>A (p.Ala359Asp) c.1136C>A (p.Ala379Asp) | gnomAD v4 |
| 12 | g.114674800C>A | CA386869669 | TBX3 | c.1075G>T (p.Ala359Ser) c.1135G>T (p.Ala379Ser) | |
| 12 | g.114674800C= | CA2064766970 | TBX3 | c.1075G= (p.Ala359=) c.1135G= (p.Ala379=) | |
| 12 | g.114674800C>G | CA386869670 | TBX3 | c.1075G>C (p.Ala359Pro) c.1135G>C (p.Ala379Pro) | |
| 12 | g.114674800C>T | CA386869671 | TBX3 | c.1075G>A (p.Ala359Thr) c.1135G>A (p.Ala379Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674805_114674822dup | CA2621130042 | TBX3 | c.1058_1075dup (p.Glu358_Ala359insGlyGluSerAspAlaGlu) c.1118_1135dup (p.Glu378_Ala379insGlyGluSerAspAlaGlu) | gnomAD v4 |
| 12 | g.114674801C>A | CA386869672 | TBX3 | c.1074G>T (p.Glu358Asp) c.1134G>T (p.Glu378Asp) | gnomAD v4 |
| 12 | g.114674801C= | CA2064766975 | TBX3 | c.1074G= (p.Glu358=) c.1134G= (p.Glu378=) | |
| 12 | g.114674801C>G | CA386869673 | TBX3 | c.1074G>C (p.Glu358Asp) c.1134G>C (p.Glu378Asp) | |
| 12 | g.114674801C>T | CA482136420 | TBX3 | c.1074G>A (p.Glu358=) c.1134G>A (p.Glu378=) | dbSNP gnomAD v4 |
| 12 | g.114674801_114674807delinsCTCGGCG | CA2064766976 | TBX3 | c.1068_1074delinsCGCCGAG (p.Asp356=) c.1128_1134delinsCGCCGAG (p.Asp376=) | |
| 12 | g.114674802T>A | CA386869674 | TBX3 | c.1073A>T (p.Glu358Val) c.1133A>T (p.Glu378Val) | |
| 12 | g.114674802T>C | CA386869675 | TBX3 | c.1073A>G (p.Glu358Gly) c.1133A>G (p.Glu378Gly) | gnomAD v4 |
| 12 | g.114674802T>G | CA386869676 | TBX3 | c.1073A>C (p.Glu358Ala) c.1133A>C (p.Glu378Ala) | |
| 12 | g.114674805_114674810dup | CA2621130043 | TBX3 | c.1068_1073dup (p.Ala357_Glu358insAspAla) c.1128_1133dup (p.Ala377_Glu378insAspAla) | gnomAD v4 |
| 12 | g.114674805_114674810del | CA608055486 | TBX3 | c.1068_1073del (p.Asp356_Ala357del) c.1128_1133del (p.Asp376_Ala377del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674803C>A | CA386869677 | TBX3 | c.1072G>T (p.Glu358Ter) c.1132G>T (p.Glu378Ter) | gnomAD v4 |
| 12 | g.114674803C>G | CA386869678 | TBX3 | c.1072G>C (p.Glu358Gln) c.1132G>C (p.Glu378Gln) | |
| 12 | g.114674803C>T | CA386869679 | TBX3 | c.1072G>A (p.Glu358Lys) c.1132G>A (p.Glu378Lys) | dbSNP gnomAD v4 |
| 12 | g.114674804G>A | CA6810006 | TBX3 | c.1071C>T (p.Ala357=) c.1131C>T (p.Ala377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674804G>C | CA482136427 | TBX3 | c.1071C>G (p.Ala357=) c.1131C>G (p.Ala377=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674804G= | CA2064766986 | TBX3 | c.1071C= (p.Ala357=) c.1131C= (p.Ala377=) | |
| 12 | g.114674804G>T | CA482136428 | TBX3 | c.1071C>A (p.Ala357=) c.1131C>A (p.Ala377=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674805G>A | CA386869680 | TBX3 | c.1070C>T (p.Ala357Val) c.1130C>T (p.Ala377Val) | dbSNP gnomAD v4 |
| 12 | g.114674805G>C | CA386869681 | TBX3 | c.1070C>G (p.Ala357Gly) c.1130C>G (p.Ala377Gly) | |
| 12 | g.114674805G>T | CA386869682 | TBX3 | c.1070C>A (p.Ala357Asp) c.1130C>A (p.Ala377Asp) | gnomAD v4 |
| 12 | g.114674806C>A | CA386869683 | TBX3 | c.1069G>T (p.Ala357Ser) c.1129G>T (p.Ala377Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674806C= | CA2064766991 | TBX3 | c.1069G= (p.Ala357=) c.1129G= (p.Ala377=) | |
| 12 | g.114674806C>G | CA6810007 | TBX3 | c.1069G>C (p.Ala357Pro) c.1129G>C (p.Ala377Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674806C>T | CA386869684 | TBX3 | c.1069G>A (p.Ala357Thr) c.1129G>A (p.Ala377Thr) | dbSNP gnomAD v4 |
| 12 | g.114674808_114674810dup | CA2621130044 | TBX3 | c.1067_1069dup (p.Asp356_Ala357insAsp) c.1127_1129dup (p.Asp376_Ala377insAsp) | gnomAD v4 |
| 12 | g.114674807G>A | CA482136435 | TBX3 | c.1068C>T (p.Asp356=) c.1128C>T (p.Asp376=) | dbSNP gnomAD v4 |
| 12 | g.114674807G>C | CA386869685 | TBX3 | c.1068C>G (p.Asp356Glu) c.1128C>G (p.Asp376Glu) | |
| 12 | g.114674807G>T | CA386869686 | TBX3 | c.1068C>A (p.Asp356Glu) c.1128C>A (p.Asp376Glu) | gnomAD v4 |
| 12 | g.114674808T>A | CA386869687 | TBX3 | c.1067A>T (p.Asp356Val) c.1127A>T (p.Asp376Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674808T>C | CA386869688 | TBX3 | c.1067A>G (p.Asp356Gly) c.1127A>G (p.Asp376Gly) | dbSNP |
| 12 | g.114674808T>G | CA386869689 | TBX3 | c.1067A>C (p.Asp356Ala) c.1127A>C (p.Asp376Ala) | |
| 12 | g.114674808T= | CA2064766998 | TBX3 | c.1067A= (p.Asp356=) c.1127A= (p.Asp376=) | |
| 12 | g.114674809C>A | CA386869690 | TBX3 | c.1066G>T (p.Asp356Tyr) c.1126G>T (p.Asp376Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674809C= | CA2064767004 | TBX3 | c.1066G= (p.Asp356=) c.1126G= (p.Asp376=) | |
| 12 | g.114674809C>G | CA386869691 | TBX3 | c.1066G>C (p.Asp356His) c.1126G>C (p.Asp376His) | dbSNP |
| 12 | g.114674809C>T | CA386869692 | TBX3 | c.1066G>A (p.Asp356Asn) c.1126G>A (p.Asp376Asn) | dbSNP gnomAD v4 COSMIC |
| 12 | g.114674810G>A | CA482136440 | TBX3 | c.1065C>T (p.Ser355=) c.1125C>T (p.Ser375=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674810G>C | CA386869693 | TBX3 | c.1065C>G (p.Ser355Arg) c.1125C>G (p.Ser375Arg) | |
| 12 | g.114674810G= | CA2064767010 | TBX3 | c.1065C= (p.Ser355=) c.1125C= (p.Ser375=) | |
| 12 | g.114674810G>T | CA386869694 | TBX3 | c.1065C>A (p.Ser355Arg) c.1125C>A (p.Ser375Arg) | dbSNP gnomAD v4 |
| 12 | g.114674811C>A | CA386869695 | TBX3 | c.1064G>T (p.Ser355Ile) c.1124G>T (p.Ser375Ile) | gnomAD v4 |
| 12 | g.114674811C>G | CA386869696 | TBX3 | c.1064G>C (p.Ser355Thr) c.1124G>C (p.Ser375Thr) | |
| 12 | g.114674811C>T | CA386869697 | TBX3 | c.1064G>A (p.Ser355Asn) c.1124G>A (p.Ser375Asn) | dbSNP gnomAD v4 |
| 12 | g.114674812_114674815del | CA2739291737 | TBX3 | c.1061_1064del (p.Glu354AlafsTer?) c.1121_1124del (p.Glu374AlafsTer?) | |
| 12 | g.114674812T>A | CA386869698 | TBX3 | c.1063A>T (p.Ser355Cys) c.1123A>T (p.Ser375Cys) | |
| 12 | g.114674812T>C | CA386869699 | TBX3 | c.1063A>G (p.Ser355Gly) c.1123A>G (p.Ser375Gly) | gnomAD v4 |
| 12 | g.114674812T>G | CA386869700 | TBX3 | c.1063A>C (p.Ser355Arg) c.1123A>C (p.Ser375Arg) | |
| 12 | g.114674813C>A | CA386869702 | TBX3 | c.1062G>T (p.Glu354Asp) c.1122G>T (p.Glu374Asp) | dbSNP gnomAD v4 |
| 12 | g.114674813C>G | CA386869701 | TBX3 | c.1062G>C (p.Glu354Asp) c.1122G>C (p.Glu374Asp) | |
| 12 | g.114674813C>T | CA482136442 | TBX3 | c.1062G>A (p.Glu354=) c.1122G>A (p.Glu374=) | gnomAD v4 |
| 12 | g.114674814T>A | CA386869703 | TBX3 | c.1061A>T (p.Glu354Val) c.1121A>T (p.Glu374Val) | dbSNP |
| 12 | g.114674814T>C | CA386869704 | TBX3 | c.1061A>G (p.Glu354Gly) c.1121A>G (p.Glu374Gly) | gnomAD v4 |
| 12 | g.114674814T>G | CA386869705 | TBX3 | c.1061A>C (p.Glu354Ala) c.1121A>C (p.Glu374Ala) | |
| 12 | g.114674815C>A | CA386869706 | TBX3 | c.1060G>T (p.Glu354Ter) c.1120G>T (p.Glu374Ter) | gnomAD v4 |
| 12 | g.114674815C= | CA2064767016 | TBX3 | c.1060G= (p.Glu354=) c.1120G= (p.Glu374=) | |
| 12 | g.114674815C>G | CA386869707 | TBX3 | c.1060G>C (p.Glu354Gln) c.1120G>C (p.Glu374Gln) | |
| 12 | g.114674815C>T | CA6810008 | TBX3 | c.1060G>A (p.Glu354Lys) c.1120G>A (p.Glu374Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674816A= | CA2064767019 | TBX3 | c.1059T= (p.Gly353=) c.1119T= (p.Gly373=) | |
| 12 | g.114674816A>C | CA482136451 | TBX3 | c.1059T>G (p.Gly353=) c.1119T>G (p.Gly373=) | |
| 12 | g.114674816A>G | CA482136448 | TBX3 | c.1059T>C (p.Gly353=) c.1119T>C (p.Gly373=) | dbSNP gnomAD v4 COSMIC |
| 12 | g.114674816A>T | CA482136449 | TBX3 | c.1059T>A (p.Gly353=) c.1119T>A (p.Gly373=) | |
| 12 | g.114674817C>A | CA6810009 | TBX3 | c.1058G>T (p.Gly353Val) c.1118G>T (p.Gly373Val) | ClinVar dbSNP ExAC gnomAD v4 |
| 12 | g.114674817C= | CA2064767028 | TBX3 | c.1058G= (p.Gly353=) c.1118G= (p.Gly373=) | |
| 12 | g.114674817C>G | CA386869708 | TBX3 | c.1058G>C (p.Gly353Ala) c.1118G>C (p.Gly373Ala) | |
| 12 | g.114674817C>T | CA386869709 | TBX3 | c.1058G>A (p.Gly353Asp) c.1118G>A (p.Gly373Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674819del | CA2621130045 | TBX3 | c.1058del (p.Gly353ValfsTer?) c.1118del (p.Gly373ValfsTer?) | gnomAD v4 |
| 12 | g.114674818_114674823dup | CA608055487 | TBX3 | c.1053_1058dup (p.Gly353_Glu354insGluGly) c.1113_1118dup (p.Gly373_Glu374insGluGly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674818C>A | CA386869710 | TBX3 | c.1057G>T (p.Gly353Cys) c.1117G>T (p.Gly373Cys) | gnomAD v4 |
| 12 | g.114674818C>G | CA386869711 | TBX3 | c.1057G>C (p.Gly353Arg) c.1117G>C (p.Gly373Arg) | |
| 12 | g.114674818C>T | CA386869712 | TBX3 | c.1057G>A (p.Gly353Ser) c.1117G>A (p.Gly373Ser) | gnomAD v4 COSMIC |
| 12 | g.114674819C>A | CA244144075 | TBX3 | c.1056G>T (p.Glu352Asp) c.1116G>T (p.Glu372Asp) | dbSNP gnomAD v4 |
| 12 | g.114674819C= | CA2064767034 | TBX3 | c.1056G= (p.Glu352=) c.1116G= (p.Glu372=) | |
| 12 | g.114674819C>G | CA386869713 | TBX3 | c.1056G>C (p.Glu352Asp) c.1116G>C (p.Glu372Asp) | |
| 12 | g.114674819C>T | CA482136455 | TBX3 | c.1056G>A (p.Glu352=) c.1116G>A (p.Glu372=) | gnomAD v4 |
| 12 | g.114674820T>A | CA386869714 | TBX3 | c.1055A>T (p.Glu352Val) c.1115A>T (p.Glu372Val) | gnomAD v4 |
| 12 | g.114674820T>C | CA386869715 | TBX3 | c.1055A>G (p.Glu352Gly) c.1115A>G (p.Glu372Gly) | gnomAD v4 |
| 12 | g.114674820T>G | CA386869716 | TBX3 | c.1055A>C (p.Glu352Ala) c.1115A>C (p.Glu372Ala) | |
| 12 | g.114674821C>A | CA244144076 | TBX3 | c.1054G>T (p.Glu352Ter) c.1114G>T (p.Glu372Ter) | dbSNP gnomAD v4 |
| 12 | g.114674821C= | CA2064767036 | TBX3 | c.1054G= (p.Glu352=) c.1114G= (p.Glu372=) | |
| 12 | g.114674821C>G | CA386869717 | TBX3 | c.1054G>C (p.Glu352Gln) c.1114G>C (p.Glu372Gln) | |
| 12 | g.114674821C>T | CA386869718 | TBX3 | c.1054G>A (p.Glu352Lys) c.1114G>A (p.Glu372Lys) | gnomAD v4 |
| 12 | g.114674822G>A | CA244144077 | TBX3 | c.1053C>T (p.Ser351=) c.1113C>T (p.Ser371=) | dbSNP gnomAD v4 |
| 12 | g.114674822G>C | CA386869719 | TBX3 | c.1053C>G (p.Ser351Arg) c.1113C>G (p.Ser371Arg) | dbSNP gnomAD v4 |
| 12 | g.114674822G= | CA2064767039 | TBX3 | c.1053C= (p.Ser351=) c.1113C= (p.Ser371=) | |
| 12 | g.114674822G>T | CA386869720 | TBX3 | c.1053C>A (p.Ser351Arg) c.1113C>A (p.Ser371Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674823C>A | CA6810010 | TBX3 | c.1052G>T (p.Ser351Ile) c.1112G>T (p.Ser371Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674823C= | CA2064767043 | TBX3 | c.1052G= (p.Ser351=) c.1112G= (p.Ser371=) | |
| 12 | g.114674823C>G | CA386869722 | TBX3 | c.1052G>C (p.Ser351Thr) c.1112G>C (p.Ser371Thr) | |
| 12 | g.114674823C>T | CA386869721 | TBX3 | c.1052G>A (p.Ser351Asn) c.1112G>A (p.Ser371Asn) | gnomAD v4 |
| 12 | g.114674824T>A | CA386869723 | TBX3 | c.1051A>T (p.Ser351Cys) c.1111A>T (p.Ser371Cys) | |
| 12 | g.114674824T>C | CA386869724 | TBX3 | c.1051A>G (p.Ser351Gly) c.1111A>G (p.Ser371Gly) | gnomAD v4 |
| 12 | g.114674824T>G | CA386869725 | TBX3 | c.1051A>C (p.Ser351Arg) c.1111A>C (p.Ser371Arg) | |
| 12 | g.114674825G>A | CA482136468 | TBX3 | c.1050C>T (p.Pro350=) c.1110C>T (p.Pro370=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674825G>C | CA482136467 | TBX3 | c.1050C>G (p.Pro350=) c.1110C>G (p.Pro370=) | gnomAD v4 |
| 12 | g.114674825G= | CA2064767046 | TBX3 | c.1050C= (p.Pro350=) c.1110C= (p.Pro370=) | |
| 12 | g.114674825G>T | CA482136466 | TBX3 | c.1050C>A (p.Pro350=) c.1110C>A (p.Pro370=) | gnomAD v4 |
| 12 | g.114674827del | CA2621130046 | TBX3 | c.1050del (p.Ser351AlafsTer?) c.1110del (p.Ser371AlafsTer?) | gnomAD v4 |
| 12 | g.114674826G>A | CA386869726 | TBX3 | c.1049C>T (p.Pro350Leu) c.1109C>T (p.Pro370Leu) | gnomAD v4 |
| 12 | g.114674826G>C | CA386869727 | TBX3 | c.1049C>G (p.Pro350Arg) c.1109C>G (p.Pro370Arg) | |
| 12 | g.114674826G>T | CA386869728 | TBX3 | c.1049C>A (p.Pro350His) c.1109C>A (p.Pro370His) | gnomAD v4 |
| 12 | g.114674827G>A | CA244144078 | TBX3 | c.1048C>T (p.Pro350Ser) c.1108C>T (p.Pro370Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674827G>C | CA386869729 | TBX3 | c.1048C>G (p.Pro350Ala) c.1108C>G (p.Pro370Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674827G= | CA2064767050 | TBX3 | c.1048C= (p.Pro350=) c.1108C= (p.Pro370=) | |
| 12 | g.114674827G>T | CA386869730 | TBX3 | c.1048C>A (p.Pro350Thr) c.1108C>A (p.Pro370Thr) | gnomAD v4 |
| 12 | g.114674828A= | CA2064767056 | TBX3 | c.1047T= (p.Cys349=) c.1107T= (p.Cys369=) | |
| 12 | g.114674828A>C | CA386869731 | TBX3 | c.1047T>G (p.Cys349Trp) c.1107T>G (p.Cys369Trp) | |
| 12 | g.114674828A>G | CA244144081 | TBX3 | c.1047T>C (p.Cys349=) c.1107T>C (p.Cys369=) | dbSNP |
| 12 | g.114674828A>T | CA386869732 | TBX3 | c.1047T>A (p.Cys349Ter) c.1107T>A (p.Cys369Ter) | gnomAD v4 |
| 12 | g.114674829C>A | CA386869735 | TBX3 | c.1046G>T (p.Cys349Phe) c.1106G>T (p.Cys369Phe) | gnomAD v4 |
| 12 | g.114674829C>G | CA386869734 | TBX3 | c.1046G>C (p.Cys349Ser) c.1106G>C (p.Cys369Ser) | |
| 12 | g.114674829C>T | CA386869733 | TBX3 | c.1046G>A (p.Cys349Tyr) c.1106G>A (p.Cys369Tyr) | gnomAD v4 |
| 12 | g.114674830A= | CA2064767058 | TBX3 | c.1045T= (p.Cys349=) c.1105T= (p.Cys369=) | |
| 12 | g.114674830A>C | CA386869736 | TBX3 | c.1045T>G (p.Cys349Gly) c.1105T>G (p.Cys369Gly) | |
| 12 | g.114674830A>G | CA6810011 | TBX3 | c.1045T>C (p.Cys349Arg) c.1105T>C (p.Cys369Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674830A>T | CA386869737 | TBX3 | c.1045T>A (p.Cys349Ser) c.1105T>A (p.Cys369Ser) | |
| 12 | g.114674831T>A | CA386869738 | TBX3 | c.1044A>T (p.Leu348Phe) c.1104A>T (p.Leu368Phe) | gnomAD v4 |
| 12 | g.114674831T>C | CA482136479 | TBX3 | c.1044A>G (p.Leu348=) c.1104A>G (p.Leu368=) | ClinVar gnomAD v4 |
| 12 | g.114674831T>G | CA386869739 | TBX3 | c.1044A>C (p.Leu348Phe) c.1104A>C (p.Leu368Phe) | |
| 12 | g.114674832A>C | CA386869740 | TBX3 | c.1043T>G (p.Leu348Ter) c.1103T>G (p.Leu368Ter) | |
| 12 | g.114674832A>G | CA386869741 | TBX3 | c.1043T>C (p.Leu348Ser) c.1103T>C (p.Leu368Ser) | gnomAD v4 |
| 12 | g.114674832A>T | CA386869742 | TBX3 | c.1043T>A (p.Leu348Ter) c.1103T>A (p.Leu368Ter) | |
| 12 | g.114674833A>C | CA386869743 | TBX3 | c.1042T>G (p.Leu348Val) c.1102T>G (p.Leu368Val) | gnomAD v4 |
| 12 | g.114674833A>G | CA482136483 | TBX3 | c.1042T>C (p.Leu348=) c.1102T>C (p.Leu368=) | gnomAD v4 |
| 12 | g.114674833A>T | CA386869744 | TBX3 | c.1042T>A (p.Leu348Ile) c.1102T>A (p.Leu368Ile) | gnomAD v4 |
| 12 | g.114674834A>C | CA386869745 | TBX3 | c.1041T>G (p.Asp347Glu) c.1101T>G (p.Asp367Glu) | |
| 12 | g.114674834A>G | CA482136487 | TBX3 | c.1041T>C (p.Asp347=) c.1101T>C (p.Asp367=) | |
| 12 | g.114674834A>T | CA386869746 | TBX3 | c.1041T>A (p.Asp347Glu) c.1101T>A (p.Asp367Glu) |