Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114674767_114674797delinsAGGCCTCGGGGCCATGCTCCTCTTTGCTCTC | CA2064766853 | TBX3 | c.1078_1108delinsGAGAGCAAAGAGGAGCATGGCCCCGAGGCCT (p.Glu360=) c.1138_1168delinsGAGAGCAAAGAGGAGCATGGCCCCGAGGCCT (p.Glu380=) | |
12 | g.114674776_114674805del | CA2064766856 | TBX3 | c.1078_1107del (p.Glu360_Ala369del) c.1138_1167del (p.Glu380_Ala389del) | dbSNP |
12 | g.114674771_114674773del | CA2621130039 | TBX3 | c.1103_1105del (p.Glu368del) c.1163_1165del (p.Glu388del) | 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) | |
12 | g.114674835T>A | CA386869749 | TBX3 | c.1040A>T (p.Asp347Val) c.1100A>T (p.Asp367Val) | gnomAD v4 |
12 | g.114674835T>C | CA386869748 | TBX3 | c.1040A>G (p.Asp347Gly) c.1100A>G (p.Asp367Gly) | |
12 | g.114674835T>G | CA386869747 | TBX3 | c.1040A>C (p.Asp347Ala) c.1100A>C (p.Asp367Ala) | gnomAD v4 |
12 | g.114674836C>A | CA386869750 | TBX3 | c.1040-1G>T (n.1040-1G>T) c.1100-1G>T (n.1100-1G>T) | gnomAD v4 |
12 | g.114674836C>G | CA386869752 | TBX3 | c.1040-1G>C (n.1040-1G>C) c.1100-1G>C (n.1100-1G>C) | |
12 | g.114674836C>T | CA386869751 | TBX3 | c.1040-1G>A (n.1040-1G>A) c.1100-1G>A (n.1100-1G>A) | |
12 | g.114674837T>A | CA386869753 | TBX3 | c.1040-2A>T (n.1040-2A>T) c.1100-2A>T (n.1100-2A>T) | gnomAD v4 |
12 | g.114674837T>C | CA386869755 | TBX3 | c.1040-2A>G (n.1040-2A>G) c.1100-2A>G (n.1100-2A>G) | gnomAD v4 |
12 | g.114674837T>G | CA386869754 | TBX3 | c.1040-2A>C (n.1040-2A>C) c.1100-2A>C (n.1100-2A>C) | |
12 | g.114674838A= | CA2064767061 | TBX3 | c.1040-3T= (n.1040-3T=) c.1100-3T= (n.1100-3T=) | |
12 | g.114674838A>G | CA952074396 | TBX3 | c.1040-3T>C (n.1040-3T>C) c.1100-3T>C (n.1100-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114674838A>T | CA2621130047 | TBX3 | c.1040-3T>A (n.1040-3T>A) c.1100-3T>A (n.1100-3T>A) | gnomAD v4 |
12 | g.114674839C>A | CA608055488 | TBX3 | c.1040-4G>T (n.1040-4G>T) c.1100-4G>T (n.1100-4G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114674839C= | CA2064767063 | TBX3 | c.1040-4G= (n.1040-4G=) c.1100-4G= (n.1100-4G=) | |
12 | g.114674839C>T | CA244144088 | TBX3 | c.1040-4G>A (n.1040-4G>A) c.1100-4G>A (n.1100-4G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114674840C>A | CA2621130048 | TBX3 | c.1040-5G>T (n.1040-5G>T) c.1100-5G>T (n.1100-5G>T) | gnomAD v4 |
12 | g.114674840C>T | CA2621130049 | TBX3 | c.1040-5G>A (n.1040-5G>A) c.1100-5G>A (n.1100-5G>A) | gnomAD v4 |
12 | g.114674841A>G | CA2621130050 | TBX3 | c.1040-6T>C (n.1040-6T>C) c.1100-6T>C (n.1100-6T>C) | gnomAD v4 |
12 | g.114674842C>A | CA608055489 | TBX3 | c.1040-7G>T (n.1040-7G>T) c.1100-7G>T (n.1100-7G>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114674842C= | CA2064767067 | TBX3 | c.1040-7G= (n.1040-7G=) c.1100-7G= (n.1100-7G=) | |
12 | g.114674842C>G | CA6810012 | TBX3 | c.1040-7G>C (n.1040-7G>C) c.1100-7G>C (n.1100-7G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114674842C>T | CA2575306171 | TBX3 | c.1040-7G>A (n.1040-7G>A) c.1100-7G>A (n.1100-7G>A) | gnomAD v4 |
12 | g.114674843A>G | CA2621130051 | TBX3 | c.1040-8T>C (n.1040-8T>C) c.1100-8T>C (n.1100-8T>C) | gnomAD v4 |
12 | g.114674844G>T | CA2621130052 | TBX3 | c.1040-9C>A (n.1040-9C>A) c.1100-9C>A (n.1100-9C>A) | gnomAD v4 |
12 | g.114674845G>A | CA2064767070 | TBX3 | c.1040-10C>T (n.1040-10C>T) c.1100-10C>T (n.1100-10C>T) | dbSNP gnomAD v4 |
12 | g.114674845G= | CA2064767069 | TBX3 | c.1040-10C= (n.1040-10C=) c.1100-10C= (n.1100-10C=) | |
12 | g.114674845G>T | CA2621130053 | TBX3 | c.1040-10C>A (n.1040-10C>A) c.1100-10C>A (n.1100-10C>A) | gnomAD v4 |
12 | g.114674846C>A | CA2064767073 | TBX3 | c.1040-11G>T (n.1040-11G>T) c.1100-11G>T (n.1100-11G>T) | dbSNP gnomAD v4 |
12 | g.114674846C= | CA2064767072 | TBX3 | c.1040-11G= (n.1040-11G=) c.1100-11G= (n.1100-11G=) | |
12 | g.114674846C>G | CA683842087 | TBX3 | c.1040-11G>C (n.1040-11G>C) c.1100-11G>C (n.1100-11G>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114674846C>T | CA6810013 | TBX3 | c.1040-11G>A (n.1040-11G>A) c.1100-11G>A (n.1100-11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114674847G>A | CA683842088 | TBX3 | c.1040-12C>T (n.1040-12C>T) c.1100-12C>T (n.1100-12C>T) | dbSNP gnomAD v4 |
12 | g.114674847G= | CA2064767076 | TBX3 | c.1040-12C= (n.1040-12C=) c.1100-12C= (n.1100-12C=) | |
12 | g.114674847G>T | CA2621130054 | TBX3 | c.1040-12C>A (n.1040-12C>A) c.1100-12C>A (n.1100-12C>A) | gnomAD v4 |
12 | g.114674848A>T | CA2621130055 | TBX3 | c.1040-13T>A (n.1040-13T>A) c.1100-13T>A (n.1100-13T>A) | gnomAD v4 |
12 | g.114674849del | CA2621130056 | TBX3 | c.1040-13del (n.1040-13del) c.1100-13del (n.1100-13del) | gnomAD v4 |
12 | g.114674849A>G | CA2621130057 | TBX3 | c.1040-14T>C (n.1040-14T>C) c.1100-14T>C (n.1100-14T>C) | gnomAD v4 |
12 | g.114674849A>T | CA2621130058 | TBX3 | c.1040-14T>A (n.1040-14T>A) c.1100-14T>A (n.1100-14T>A) | gnomAD v4 |
12 | g.114674850G>A | CA2621130059 | TBX3 | c.1040-15C>T (n.1040-15C>T) c.1100-15C>T (n.1100-15C>T) | gnomAD v4 |
12 | g.114674850G>T | CA2621130060 | TBX3 | c.1040-15C>A (n.1040-15C>A) c.1100-15C>A (n.1100-15C>A) | gnomAD v4 |
12 | g.114674851G>A | CA2621130061 | TBX3 | c.1040-16C>T (n.1040-16C>T) c.1100-16C>T (n.1100-16C>T) | gnomAD v4 |
12 | g.114674851G= | CA2064767077 | TBX3 | c.1040-16C= (n.1040-16C=) c.1100-16C= (n.1100-16C=) | |
12 | g.114674851G>T | CA2621130062 | TBX3 | c.1040-16C>A (n.1040-16C>A) c.1100-16C>A (n.1100-16C>A) | gnomAD v4 |
12 | g.114674852A= | CA2064767079 | TBX3 | c.1040-17T= (n.1040-17T=) c.1100-17T= (n.1100-17T=) | |
12 | g.114674852A>G | CA952074398 | TBX3 | c.1040-17T>C (n.1040-17T>C) c.1100-17T>C (n.1100-17T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114674852A>T | CA683842090 | TBX3 | c.1040-17T>A (n.1040-17T>A) c.1100-17T>A (n.1100-17T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114674857dup | CA683842089 | TBX3 | c.1040-17dup (n.1040-17dup) c.1100-17dup (n.1100-17dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114674857del | CA2621130063 | TBX3 | c.1040-17del (n.1040-17del) c.1100-17del (n.1100-17del) | gnomAD v4 |
12 | g.114674853A>G | CA2621130064 | TBX3 | c.1040-18T>C (n.1040-18T>C) c.1100-18T>C (n.1100-18T>C) | gnomAD v4 |
12 | g.114674854A= | CA2064767082 | TBX3 | c.1040-19T= (n.1040-19T=) c.1100-19T= (n.1100-19T=) | |
12 | g.114674854A>G | CA2064767083 | TBX3 | c.1040-19T>C (n.1040-19T>C) c.1100-19T>C (n.1100-19T>C) | dbSNP gnomAD v4 |
12 | g.114674855A= | CA2064767084 | TBX3 | c.1040-20T= (n.1040-20T=) c.1100-20T= (n.1100-20T=) | |
12 | g.114674855A>C | CA608055490 | TBX3 | c.1040-20T>G (n.1040-20T>G) c.1100-20T>G (n.1100-20T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114674855A>G | CA2621130065 | TBX3 | c.1040-20T>C (n.1040-20T>C) c.1100-20T>C (n.1100-20T>C) | gnomAD v4 |
12 | g.114674856A= | CA2064767086 | TBX3 | c.1040-21T= (n.1040-21T=) c.1100-21T= (n.1100-21T=) | |
12 | g.114674856A>C | CA608055491 | TBX3 | c.1040-21T>G (n.1040-21T>G) c.1100-21T>G (n.1100-21T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114674858C>A | CA608055492 | TBX3 | c.1040-23G>T (n.1040-23G>T) c.1100-23G>T (n.1100-23G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114674858C= | CA2064767087 | TBX3 | c.1040-23G= (n.1040-23G=) c.1100-23G= (n.1100-23G=) | |
12 | g.114674858C>T | CA2621130066 | TBX3 | c.1040-23G>A (n.1040-23G>A) c.1100-23G>A (n.1100-23G>A) | gnomAD v4 |
12 | g.114674859C>A | CA2621130067 | TBX3 | c.1040-24G>T (n.1040-24G>T) c.1100-24G>T (n.1100-24G>T) | gnomAD v4 |
12 | g.114674859C>T | CA2621130068 | TBX3 | c.1040-24G>A (n.1040-24G>A) c.1100-24G>A (n.1100-24G>A) | gnomAD v4 |
12 | g.114674860A>T | CA2621130069 | TBX3 | c.1040-25T>A (n.1040-25T>A) c.1100-25T>A (n.1100-25T>A) | gnomAD v4 |
12 | g.114674861A>G | CA2575306172 | TBX3 | c.1040-26T>C (n.1040-26T>C) c.1100-26T>C (n.1100-26T>C) | gnomAD v4 |
12 | g.114674861A>T | CA2621130070 | TBX3 | c.1040-26T>A (n.1040-26T>A) c.1100-26T>A (n.1100-26T>A) | gnomAD v4 |
12 | g.114674862G>A | CA2602870587 | TBX3 | c.1040-27C>T (n.1040-27C>T) c.1100-27C>T (n.1100-27C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114674862G>T | CA2621130071 | TBX3 | c.1040-27C>A (n.1040-27C>A) c.1100-27C>A (n.1100-27C>A) | gnomAD v4 |
12 | g.114674863G>A | CA608055493 | TBX3 | c.1040-28C>T (n.1040-28C>T) c.1100-28C>T (n.1100-28C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114674863G= | CA2064767089 | TBX3 | c.1040-28C= (n.1040-28C=) c.1100-28C= (n.1100-28C=) | |
12 | g.114674863G>T | CA2621130072 | TBX3 | c.1040-28C>A (n.1040-28C>A) c.1100-28C>A (n.1100-28C>A) | gnomAD v4 |
12 | g.114674864C>A | CA2621130073 | TBX3 | c.1040-29G>T (n.1040-29G>T) c.1100-29G>T (n.1100-29G>T) | gnomAD v4 |
12 | g.114674864C>T | CA2621130074 | TBX3 | c.1040-29G>A (n.1040-29G>A) c.1100-29G>A (n.1100-29G>A) | gnomAD v4 |
12 | g.114674866G>C | CA6810014 | TBX3 | c.1040-31C>G (n.1040-31C>G) c.1100-31C>G (n.1100-31C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114674866G= | CA2064767091 | TBX3 | c.1040-31C= (n.1040-31C=) c.1100-31C= (n.1100-31C=) | |
12 | g.114674866G>T | CA2621130075 | TBX3 | c.1040-31C>A (n.1040-31C>A) c.1100-31C>A (n.1100-31C>A) | gnomAD v4 |
12 | g.114674867A>T | CA2621130076 | TBX3 | c.1040-32T>A (n.1040-32T>A) c.1100-32T>A (n.1100-32T>A) | gnomAD v4 |
12 | g.114674869G>A | CA2621130078 | TBX3 | c.1040-34C>T (n.1040-34C>T) c.1100-34C>T (n.1100-34C>T) | gnomAD v4 |
12 | g.114674869G>C | CA2621130079 | TBX3 | c.1040-34C>G (n.1040-34C>G) c.1100-34C>G (n.1100-34C>G) | gnomAD v4 |
12 | g.114674869G= | CA2064767094 | TBX3 | c.1040-34C= (n.1040-34C=) c.1100-34C= (n.1100-34C=) | |
12 | g.114674869G>T | CA608055494 | TBX3 | c.1040-34C>A (n.1040-34C>A) c.1100-34C>A (n.1100-34C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114674871del | CA2621130077 | TBX3 | c.1040-34del (n.1040-34del) c.1100-34del (n.1100-34del) | gnomAD v4 |
12 | g.114674870G= | CA2064767096 | TBX3 | c.1040-35C= (n.1040-35C=) c.1100-35C= (n.1100-35C=) | |
12 | g.114674870G>T | CA6810015 | TBX3 | c.1040-35C>A (n.1040-35C>A) c.1100-35C>A (n.1100-35C>A) | dbSNP ExAC gnomAD v4 |
12 | g.114674871G= | CA2064767098 | TBX3 | c.1040-36C= (n.1040-36C=) c.1100-36C= (n.1100-36C=) | |
12 | g.114674871G>T | CA2621130080 | TBX3 | c.1040-36C>A (n.1040-36C>A) c.1100-36C>A (n.1100-36C>A) | gnomAD v4 |
12 | g.114674872C>A | CA2621130081 | TBX3 | c.1040-37G>T (n.1040-37G>T) c.1100-37G>T (n.1100-37G>T) | dbSNP gnomAD v4 |
12 | g.114674872C>G | CA2621130082 | TBX3 | c.1040-37G>C (n.1040-37G>C) c.1100-37G>C (n.1100-37G>C) | gnomAD v4 |
12 | g.114674872C>T | CA2621130083 | TBX3 | c.1040-37G>A (n.1040-37G>A) c.1100-37G>A (n.1100-37G>A) | gnomAD v4 |
12 | g.114674873_114674880dup | CA6810016 | TBX3 | c.1040-44_1040-37dup (n.1040-44_1040-37dup) c.1100-44_1100-37dup (n.1100-44_1100-37dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |