ClinVar Miner

List of variants in gene TBX1 studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 683
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HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NC_000022.11:g.19755901C>T rs41260844 0.23484
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=) rs13054377 0.09863
NM_080647.1(TBX1):c.-882C>T rs41298629 0.03856
NM_001379200.1(TBX1):c.324G>A (p.Ala108=) rs72646953 0.02309
NM_001379200.1(TBX1):c.102G>T (p.Gly34=) rs72646952 0.01097
NM_001379200.1(TBX1):c.471C>T (p.Phe157=) rs139776757 0.00318
NM_001379200.1(TBX1):c.519G>A (p.Pro173=) rs111754814 0.00226
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001379200.1(TBX1):c.954C>T (p.Pro318=) rs201607803 0.00114
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser) rs565927787 0.00107
NM_001379200.1(TBX1):c.1037-15C>T rs533097263 0.00087
NM_001379200.1(TBX1):c.90G>T (p.Leu30=) rs770754649 0.00081
NM_001379200.1(TBX1):c.348G>A (p.Val116=) rs148928907 0.00064
NM_001379200.1(TBX1):c.840C>T (p.Thr280=) rs61730282 0.00063
NM_080647.1(TBX1):c.-39C>T rs72646950 0.00063
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala) rs952890575 0.00059
NM_001379200.1(TBX1):c.540-8C>T rs72646960 0.00049
NM_001379200.1(TBX1):c.540-16C>T rs200786105 0.00033
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser) rs201993443 0.00026
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln) rs555522870 0.00026
NM_001379200.1(TBX1):c.705C>T (p.Asn235=) rs149453540 0.00024
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) rs746812421 0.00020
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=) rs200135498 0.00020
NM_001379200.1(TBX1):c.913C>A (p.Arg305=) rs751339103 0.00015
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln) rs918788695 0.00014
NM_001379200.1(TBX1):c.594G>A (p.Thr198=) rs138724943 0.00013
NM_001379200.1(TBX1):c.936-8G>T rs753380966 0.00011
NM_001379200.1(TBX1):c.96C>T (p.Ala32=) rs931429492 0.00011
NM_001379200.1(TBX1):c.915G>C (p.Arg305=) rs146109202 0.00010
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu) rs764197422 0.00009
NM_001379200.1(TBX1):c.284C>T (p.Pro95Leu) rs775295536 0.00009
NM_001379200.1(TBX1):c.539+7G>A rs780062926 0.00009
NM_001379200.1(TBX1):c.540-15C>G rs45561334 0.00009
NM_001379200.1(TBX1):c.711C>T (p.His237=) rs200021644 0.00009
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=) rs1443686047 0.00008
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly) rs557935727 0.00008
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln) rs776268518 0.00008
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val) rs753613632 0.00008
NM_001379200.1(TBX1):c.95C>T (p.Ala32Val) rs1415687525 0.00007
NM_001379200.1(TBX1):c.961C>T (p.Leu321=) rs745951558 0.00007
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro) rs755937050 0.00006
NM_001379200.1(TBX1):c.198C>T (p.Ala66=) rs1398031445 0.00006
NM_001379200.1(TBX1):c.540-13C>T rs200902332 0.00006
NM_001379200.1(TBX1):c.657C>T (p.Ile219=) rs141186024 0.00006
NM_001379200.1(TBX1):c.666C>T (p.Phe222=) rs546513284 0.00006
NM_001379200.1(TBX1):c.711+3G>A rs376779775 0.00006
NM_001379200.1(TBX1):c.1082C>T (p.Pro361Leu) rs1001921296 0.00005
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln) rs747623105 0.00005
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00005
NM_001379200.1(TBX1):c.624G>A (p.Ser208=) rs754390970 0.00005
NM_001379200.1(TBX1):c.978C>T (p.Ala326=) rs772039142 0.00005
NM_001379200.1(TBX1):c.1085C>G (p.Ala362Gly) rs569581176 0.00004
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln) rs548714133 0.00004
NM_001379200.1(TBX1):c.113G>A (p.Gly38Asp) rs908778553 0.00004
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=) rs941116789 0.00004
NM_001379200.1(TBX1):c.201C>G (p.Pro67=) rs1310802135 0.00004
NM_001379200.1(TBX1):c.437+11C>T rs751433208 0.00004
NM_001379200.1(TBX1):c.438-5C>G rs972035685 0.00004
NM_001379200.1(TBX1):c.489C>T (p.Ala163=) rs41298816 0.00004
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr) rs1342897153 0.00004
NM_001379200.1(TBX1):c.867+11G>A rs180798122 0.00004
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln) rs549715785 0.00003
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp) rs756543718 0.00003
NM_001379200.1(TBX1):c.1359C>T (p.His453=) rs1220689917 0.00003
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 0.00003
NM_001379200.1(TBX1):c.1440A>C (p.Ala480=) rs777313046 0.00003
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu) rs1464455403 0.00003
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val) rs1383914204 0.00003
NM_001379200.1(TBX1):c.540-17A>C rs750770662 0.00003
NM_001379200.1(TBX1):c.540-7G>A rs372179395 0.00003
NM_001379200.1(TBX1):c.711+7G>A rs369332029 0.00003
NM_080647.1(TBX1):c.15C>A (p.Thr5=) rs764497467 0.00003
NM_001379200.1(TBX1):c.1041G>T (p.Ala347=) rs1381402015 0.00002
NM_001379200.1(TBX1):c.1170C>T (p.Gly390=) rs1936852453 0.00002
NM_001379200.1(TBX1):c.1186G>C (p.Gly396Arg) rs1377774172 0.00002
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly) rs745858331 0.00002
NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg) rs767961877 0.00002
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp) rs1177085596 0.00002
NM_001379200.1(TBX1):c.1386C>A (p.His462Gln) rs1172793466 0.00002
NM_001379200.1(TBX1):c.1433C>T (p.Ala478Val) rs757867291 0.00002
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His) rs746250147 0.00002
NM_001379200.1(TBX1):c.1485G>T (p.Pro495=) rs750574356 0.00002
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg) rs756769832 0.00002
NM_001379200.1(TBX1):c.270C>A (p.Ser90Arg) rs1478778776 0.00002
NM_001379200.1(TBX1):c.286G>C (p.Glu96Gln) rs762629442 0.00002
NM_001379200.1(TBX1):c.351C>T (p.Ala117=) rs757290764 0.00002
NM_001379200.1(TBX1):c.393G>A (p.Glu131=) rs892270450 0.00002
NM_001379200.1(TBX1):c.472G>A (p.Gly158Ser) rs909599095 0.00002
NM_001379200.1(TBX1):c.540-12G>A rs1243576480 0.00002
NM_001379200.1(TBX1):c.543C>T (p.Tyr181=) rs772390067 0.00002
NM_001379200.1(TBX1):c.582C>T (p.Ala194=) rs775502763 0.00002
NM_001379200.1(TBX1):c.618G>A (p.Pro206=) rs1177792242 0.00002
NM_001379200.1(TBX1):c.922G>C (p.Asp308His) rs750330152 0.00002
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser) rs1359119941 0.00002
NM_001379200.1(TBX1):c.1003G>T (p.Ala335Ser) rs892172437 0.00001
NM_001379200.1(TBX1):c.1008C>G (p.Ser336=) rs1489288021 0.00001
NM_001379200.1(TBX1):c.1010C>T (p.Pro337Leu) rs1300317275 0.00001
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp) rs1191464098 0.00001
NM_001379200.1(TBX1):c.1026C>A (p.Gly342=) rs1360989561 0.00001
NM_001379200.1(TBX1):c.1037-10C>T rs1187093140 0.00001
NM_001379200.1(TBX1):c.1037-18C>T rs1464749962 0.00001
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr) rs1407996016 0.00001
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu) rs1157536437 0.00001
NM_001379200.1(TBX1):c.1188C>T (p.Gly396=) rs1046003511 0.00001
NM_001379200.1(TBX1):c.1195G>A (p.Gly399Arg) rs1196576937 0.00001
NM_001379200.1(TBX1):c.1196G>C (p.Gly399Ala) rs1274082696 0.00001
NM_001379200.1(TBX1):c.1199G>C (p.Gly400Ala) rs1238160485 0.00001
NM_001379200.1(TBX1):c.119C>T (p.Ala40Val) rs745369694 0.00001
NM_001379200.1(TBX1):c.1221C>T (p.Pro407=) rs1305509653 0.00001
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser) rs757648761 0.00001
NM_001379200.1(TBX1):c.1245C>T (p.Gly415=) rs780344405 0.00001
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=) rs755047093 0.00001
NM_001379200.1(TBX1):c.1251G>A (p.Ser417=) rs770781746 0.00001
NM_001379200.1(TBX1):c.1286C>T (p.Ala429Val) rs754328637 0.00001
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys) rs1163307521 0.00001
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn) rs758517884 0.00001
NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys) rs1386894564 0.00001
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=) rs574947516 0.00001
NM_001379200.1(TBX1):c.1323G>A (p.Arg441=) rs1228904807 0.00001
NM_001379200.1(TBX1):c.1329G>A (p.Ala443=) rs772860144 0.00001
NM_001379200.1(TBX1):c.1371G>A (p.Pro457=) rs768572721 0.00001
NM_001379200.1(TBX1):c.1377G>C (p.Ala459=) rs771540171 0.00001
NM_001379200.1(TBX1):c.137C>T (p.Pro46Leu) rs1169037254 0.00001
NM_001379200.1(TBX1):c.1392C>T (p.His464=) rs777103863 0.00001
NM_001379200.1(TBX1):c.1425C>T (p.Ala475=) rs754705790 0.00001
NM_001379200.1(TBX1):c.1437C>T (p.Ala479=) rs1415301935 0.00001
NM_001379200.1(TBX1):c.1446C>G (p.Ala482=) rs770702512 0.00001
NM_001379200.1(TBX1):c.1446C>T (p.Ala482=) rs770702512 0.00001
NM_001379200.1(TBX1):c.1469C>T (p.Ser490Leu) rs770129913 0.00001
NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val) rs373987708 0.00001
NM_001379200.1(TBX1):c.1500C>G (p.Asp500Glu) rs777213879 0.00001
NM_001379200.1(TBX1):c.158C>T (p.Pro53Leu) rs1403071771 0.00001
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu) rs1936641756 0.00001
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr) rs1936643083 0.00001
NM_001379200.1(TBX1):c.279C>T (p.Ala93=) rs1191392752 0.00001
NM_001379200.1(TBX1):c.303C>G (p.Ser101Arg) rs774556411 0.00001
NM_001379200.1(TBX1):c.318C>G (p.Ala106=) rs767905417 0.00001
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp) rs761127806 0.00001
NM_001379200.1(TBX1):c.437+10C>T rs765377233 0.00001
NM_001379200.1(TBX1):c.438-7C>A rs199903273 0.00001
NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu) rs778041960 0.00001
NM_001379200.1(TBX1):c.523G>A (p.Asp175Asn) rs371125236 0.00001
NM_001379200.1(TBX1):c.525C>T (p.Asp175=) rs538317719 0.00001
NM_001379200.1(TBX1):c.549C>T (p.Phe183=) rs1468073803 0.00001
NM_001379200.1(TBX1):c.588T>C (p.Pro196=) rs1936758322 0.00001
NM_001379200.1(TBX1):c.632A>G (p.Lys211Arg) rs755518264 0.00001
NM_001379200.1(TBX1):c.636C>T (p.Gly212=) rs779173153 0.00001
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr) rs748232668 0.00001
NM_001379200.1(TBX1):c.658G>A (p.Val220Met) rs749275495 0.00001
NM_001379200.1(TBX1):c.663C>T (p.Ser221=) rs1438172581 0.00001
NM_001379200.1(TBX1):c.699C>T (p.Asp233=) rs367657296 0.00001
NM_001379200.1(TBX1):c.69G>C (p.Thr23=) rs1482857023 0.00001
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn) rs765827737 0.00001
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg) rs373539086 0.00001
NM_001379200.1(TBX1):c.768C>T (p.Asp256=) rs1266161483 0.00001
NM_001379200.1(TBX1):c.780T>C (p.Asp260=) rs1936784892 0.00001
NM_001379200.1(TBX1):c.822C>T (p.Phe274=) rs763559631 0.00001
NM_001379200.1(TBX1):c.831A>T (p.Thr277=) rs1182771166 0.00001
NM_001379200.1(TBX1):c.868-11C>T rs1936811503 0.00001
NM_001379200.1(TBX1):c.868-19C>T rs1201011175 0.00001
NM_001379200.1(TBX1):c.935+13C>T rs779209396 0.00001
NM_001379200.1(TBX1):c.936-11C>A rs917326981 0.00001
NM_001379200.1(TBX1):c.956G>C (p.Gly319Ala) rs747565599 0.00001
NM_001379200.1(TBX1):c.986G>C (p.Arg329Pro) rs1271930172 0.00001
NM_080647.1(TBX1):c.34+6C>T rs1263773731 0.00001
NC_000022.10:g.(?_19743226)_(19755855_?)del
NC_000022.10:g.(?_19743226)_(19755855_?)dup
NC_000022.10:g.(?_19747167)_(19748823_?)dup
NC_000022.10:g.(?_19747167)_(19754390_?)del
NC_000022.10:g.(?_19748408)_(19748823_?)dup
NC_000022.10:g.(?_19748454)_19748649del
NC_000022.10:g.(?_19753261)_(19754390_?)del
NC_000022.11:g.(?_19755901)_(19759687_?)del
NC_000022.11:g.(?_19755950)_(19759697_?)del
NM_001379200.1(TBX1):c.1000G>A (p.Val334Met)
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
NM_001379200.1(TBX1):c.1008C>T (p.Ser336=)
NM_001379200.1(TBX1):c.1011G>A (p.Pro337=)
NM_001379200.1(TBX1):c.1015C>T (p.Gln339Ter)
NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala) rs1335862067
NM_001379200.1(TBX1):c.1020C>T (p.Pro340=)
NM_001379200.1(TBX1):c.1023C>T (p.Ser341=) rs1227296562
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys) rs1294861011
NM_001379200.1(TBX1):c.1026C>T (p.Gly342=)
NM_001379200.1(TBX1):c.1027del (p.Thr343fs)
NM_001379200.1(TBX1):c.1028C>A (p.Thr343Lys)
NM_001379200.1(TBX1):c.1029G>A (p.Thr343=)
NM_001379200.1(TBX1):c.1030G>A (p.Glu344Lys)
NM_001379200.1(TBX1):c.1036+11G>A
NM_001379200.1(TBX1):c.1036+17G>A rs1601292943
NM_001379200.1(TBX1):c.1036+18G>A
NM_001379200.1(TBX1):c.1036+18G>C rs2145837264
NM_001379200.1(TBX1):c.1036+4G>T rs1936826165
NM_001379200.1(TBX1):c.1036+6G>A
NM_001379200.1(TBX1):c.1036G>A (p.Asp346Asn)
NM_001379200.1(TBX1):c.1037-11C>T
NM_001379200.1(TBX1):c.1037-12C>T
NM_001379200.1(TBX1):c.1037-14G>T
NM_001379200.1(TBX1):c.1037-15C>G
NM_001379200.1(TBX1):c.1037-17C>G
NM_001379200.1(TBX1):c.1037-1G>A rs1936844527
NM_001379200.1(TBX1):c.1037-6C>T
NM_001379200.1(TBX1):c.1037-7_1037-6del rs1037168604
NM_001379200.1(TBX1):c.1041G>A (p.Ala347=)
NM_001379200.1(TBX1):c.1045G>A (p.Glu349Lys)
NM_001379200.1(TBX1):c.1046A>T (p.Glu349Val) rs751917634
NM_001379200.1(TBX1):c.104G>A (p.Gly35Asp)
NM_001379200.1(TBX1):c.104G>T (p.Gly35Val)
NM_001379200.1(TBX1):c.1051C>A (p.Arg351=)
NM_001379200.1(TBX1):c.1051C>T (p.Arg351Trp)
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter) rs1936845711
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser) rs1046395605
NM_001379200.1(TBX1):c.1067G>A (p.Arg356His)
NM_001379200.1(TBX1):c.1070A>G (p.Asp357Gly)
NM_001379200.1(TBX1):c.1071C>A (p.Asp357Glu)
NM_001379200.1(TBX1):c.1072G>A (p.Ala358Thr)
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) rs1452987245
NM_001379200.1(TBX1):c.1074G>C (p.Ala358=)
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.1076G>T (p.Gly359Val) rs781731042
NM_001379200.1(TBX1):c.1085C>T (p.Ala362Val) rs569581176
NM_001379200.1(TBX1):c.1089_1090delinsAA (p.Leu364Ile)
NM_001379200.1(TBX1):c.108C>T (p.Phe36=) rs1378203817
NM_001379200.1(TBX1):c.1090C>T (p.Leu364Phe) rs1200093941
NM_001379200.1(TBX1):c.1095G>A (p.Gly365=)
NM_001379200.1(TBX1):c.1096G>A (p.Asp366Asn)
NM_001379200.1(TBX1):c.1099C>G (p.Pro367Ala) rs2145838185
NM_001379200.1(TBX1):c.109C>A (p.Pro37Thr) rs2145827634
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=) rs1010293843
NM_001379200.1(TBX1):c.1104G>C (p.Ala368=)
NM_001379200.1(TBX1):c.1105C>T (p.His369Tyr) rs1936848458
NM_001379200.1(TBX1):c.1112C>T (p.Pro371Leu)
NM_001379200.1(TBX1):c.1117del (p.Leu373fs) rs2145838229
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
NM_001379200.1(TBX1):c.1120C>T (p.Leu374=)
NM_001379200.1(TBX1):c.1121T>C (p.Leu374Pro)
NM_001379200.1(TBX1):c.1125C>T (p.Ala375=) rs1936849382
NM_001379200.1(TBX1):c.1135A>G (p.Ser379Gly) rs2145838292
NM_001379200.1(TBX1):c.1137C>T (p.Ser379=)
NM_001379200.1(TBX1):c.1138C>T (p.Pro380Ser) rs922499443
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu) rs1936850184
NM_001379200.1(TBX1):c.1145T>C (p.Leu382Pro) rs2145838313
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His) rs953761540
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) rs1192078635
NM_001379200.1(TBX1):c.114C>A (p.Gly38=)
NM_001379200.1(TBX1):c.114C>T (p.Gly38=)
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly) rs1555896709
NM_001379200.1(TBX1):c.1152G>C (p.Gly384=) rs1354472648
NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1]) rs1288296547
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3]) rs1288296547
NM_001379200.1(TBX1):c.1158C>T (p.Gly386=)
NM_001379200.1(TBX1):c.115G>A (p.Ala39Thr)
NM_001379200.1(TBX1):c.115_213del (p.Ala39_Gly71del)
NM_001379200.1(TBX1):c.1160G>A (p.Gly387Asp) rs2145838410
NM_001379200.1(TBX1):c.1161C>G (p.Gly387=)
NM_001379200.1(TBX1):c.1165G>A (p.Gly389Ser)
NM_001379200.1(TBX1):c.1167C>A (p.Gly389=) rs111605258
NM_001379200.1(TBX1):c.1167C>T (p.Gly389=)
NM_001379200.1(TBX1):c.1168G>C (p.Gly390Arg) rs1408610906
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser) rs1936852709
NM_001379200.1(TBX1):c.1178C>G (p.Pro393Arg)
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs) rs1936852915
NM_001379200.1(TBX1):c.117C>T (p.Ala39=)
NM_001379200.1(TBX1):c.1180C>A (p.Leu394Met)
NM_001379200.1(TBX1):c.1185C>T (p.Pro395=)
NM_001379200.1(TBX1):c.1189G>A (p.Ala397Thr) rs2145838479
NM_001379200.1(TBX1):c.1194C>T (p.Pro398=)
NM_001379200.1(TBX1):c.1196G>A (p.Gly399Glu) rs1274082696
NM_001379200.1(TBX1):c.1196G>T (p.Gly399Val)
NM_001379200.1(TBX1):c.1198G>C (p.Gly400Arg) rs1936854182
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln) rs1270901790
NM_001379200.1(TBX1):c.1204C>T (p.Pro402Ser) rs1485590152
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg) rs1936854828
NM_001379200.1(TBX1):c.1206_1207insGAACCCCGAGC (p.Ser403fs)
NM_001379200.1(TBX1):c.1208G>A (p.Ser403Asn) rs749558577
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
NM_001379200.1(TBX1):c.1212C>T (p.Pro404=) rs1168835856
NM_001379200.1(TBX1):c.1214C>A (p.Pro405Gln) rs746812421
NM_001379200.1(TBX1):c.1214C>G (p.Pro405Arg)
NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser) rs1936855908
NM_001379200.1(TBX1):c.1221C>A (p.Pro407=) rs1305509653
NM_001379200.1(TBX1):c.1224G>A (p.Glu408=)
NM_001379200.1(TBX1):c.1231C>T (p.Leu411=) rs2145838647
NM_001379200.1(TBX1):c.1238C>T (p.Ala413Val)
NM_001379200.1(TBX1):c.1239G>A (p.Ala413=) rs1228513970
NM_001379200.1(TBX1):c.1239G>C (p.Ala413=)
NM_001379200.1(TBX1):c.1239G>T (p.Ala413=)
NM_001379200.1(TBX1):c.1242C>A (p.Pro414=) rs200135498
NM_001379200.1(TBX1):c.1242C>G (p.Pro414=) rs200135498
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser) rs2145827697
NM_001379200.1(TBX1):c.1250C>T (p.Ser417Leu) rs779281442
NM_001379200.1(TBX1):c.1250del (p.Ser417fs) rs1601294362
NM_001379200.1(TBX1):c.1251G>C (p.Ser417=) rs770781746
NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)
NM_001379200.1(TBX1):c.1254G>T (p.Glu418Asp)
NM_001379200.1(TBX1):c.1256C>T (p.Pro419Leu)
NM_001379200.1(TBX1):c.1260G>A (p.Leu420=)
NM_001379200.1(TBX1):c.1261C>A (p.His421Asn) rs985907694
NM_001379200.1(TBX1):c.1263C>T (p.His421=)
NM_001379200.1(TBX1):c.1265A>G (p.His422Arg)
NM_001379200.1(TBX1):c.1266_1267delinsAT (p.His422_His423delinsGlnTyr)
NM_001379200.1(TBX1):c.1268A>C (p.His423Pro)
NM_001379200.1(TBX1):c.1269C>T (p.His423=) rs761327170
NM_001379200.1(TBX1):c.126C>T (p.Pro42=)
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His) rs1243986502
NM_001379200.1(TBX1):c.1275C>T (p.Tyr425=) rs2145838867
NM_001379200.1(TBX1):c.1276A>C (p.Lys426Gln)
NM_001379200.1(TBX1):c.127G>A (p.Gly43Ser) rs1936637392
NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys) rs1936637392
NM_001379200.1(TBX1):c.1280A>T (p.Tyr427Phe) rs1601294456
NM_001379200.1(TBX1):c.1282C>T (p.Pro428Ser)
NM_001379200.1(TBX1):c.1283C>G (p.Pro428Arg)
NM_001379200.1(TBX1):c.1296C>T (p.Tyr432=)
NM_001379200.1(TBX1):c.1297G>T (p.Asp433Tyr) rs758517884
NM_001379200.1(TBX1):c.1299C>A (p.Asp433Glu)
NM_001379200.1(TBX1):c.1301A>C (p.His434Pro)
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
NM_001379200.1(TBX1):c.1302_1304del (p.Tyr435del) rs1936861633
NM_001379200.1(TBX1):c.1306C>T (p.Leu436Phe)
NM_001379200.1(TBX1):c.1309G>T (p.Gly437Trp)
NM_001379200.1(TBX1):c.1311G>A (p.Gly437=)
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
NM_001379200.1(TBX1):c.1317G>A (p.Lys439=)
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg) rs2145838985
NM_001379200.1(TBX1):c.1321C>T (p.Arg441Trp)
NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs)
NM_001379200.1(TBX1):c.1341G>T (p.Leu447=)
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser) rs777873225
NM_001379200.1(TBX1):c.1345G>C (p.Gly449Arg) rs777873225
NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val) rs751740430
NM_001379200.1(TBX1):c.1356C>T (p.Gly452=)
NM_001379200.1(TBX1):c.1361_1375del (p.Gly454_His458del)
NM_001379200.1(TBX1):c.1361_1384dup (p.Pro461_His462insArgTyrHisProHisAlaHisPro)
NM_001379200.1(TBX1):c.1363T>C (p.Tyr455His)
NM_001379200.1(TBX1):c.1368C>A (p.His456Gln) rs1601294758
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup) rs774578030
NM_001379200.1(TBX1):c.1369C>T (p.Pro457Ser)
NM_001379200.1(TBX1):c.1370C>G (p.Pro457Arg)
NM_001379200.1(TBX1):c.1375_1386dup (p.His462_His463insAlaHisProHis)
NM_001379200.1(TBX1):c.1375dup (p.Ala459fs)
NM_001379200.1(TBX1):c.1376C>T (p.Ala459Val) rs1936866904
NM_001379200.1(TBX1):c.1377G>A (p.Ala459=)
NM_001379200.1(TBX1):c.1377G>T (p.Ala459=) rs771540171
NM_001379200.1(TBX1):c.1379A>T (p.His460Leu) rs1384737337
NM_001379200.1(TBX1):c.1380T>A (p.His460Gln)
NM_001379200.1(TBX1):c.1380T>C (p.His460=) rs367711718
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln) rs367711718
NM_001379200.1(TBX1):c.1381C>T (p.Pro461Ser)
NM_001379200.1(TBX1):c.1382C>T (p.Pro461Leu) rs1936867566
NM_001379200.1(TBX1):c.1385ACC[3] (p.His465_His466del) rs753713234
NM_001379200.1(TBX1):c.1385ACC[4] (p.His466del) rs753713234
NM_001379200.1(TBX1):c.1385ACC[6] (p.His466_Pro467insHis)
NM_001379200.1(TBX1):c.1385ACC[7] (p.His466_Pro467insHisHis)
NM_001379200.1(TBX1):c.1387C>A (p.His463Asn)
NM_001379200.1(TBX1):c.1388A>G (p.His463Arg)
NM_001379200.1(TBX1):c.1393C>G (p.His465Asp) rs2145839292
NM_001379200.1(TBX1):c.1394_1397dup (p.His466fs)
NM_001379200.1(TBX1):c.1399C>A (p.Pro467Thr) rs765827356
NM_001379200.1(TBX1):c.1399C>T (p.Pro467Ser)
NM_001379200.1(TBX1):c.1400C>T (p.Pro467Leu) rs1936869060
NM_001379200.1(TBX1):c.1401C>T (p.Pro467=) rs753192876
NM_001379200.1(TBX1):c.1402G>T (p.Val468Leu) rs764197422
NM_001379200.1(TBX1):c.1408_1416del (p.Pro470_Ala472del)
NM_001379200.1(TBX1):c.1408_1446del (p.Pro470_Ala482del) rs1238730283
NM_001379200.1(TBX1):c.1410A>G (p.Pro470=)
NM_001379200.1(TBX1):c.1410_1448del (p.Ala473_Ala485del) rs764911027
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del) rs752498057
NM_001379200.1(TBX1):c.1414_1415del (p.Ala472fs)
NM_001379200.1(TBX1):c.1417G>T (p.Ala473Ser)
NM_001379200.1(TBX1):c.1419_1421dup (p.Ala485_Asn486insAla)
NM_001379200.1(TBX1):c.1419_1424dup (p.Ala484_Ala485dup) rs1478207118
NM_001379200.1(TBX1):c.1419_1427del (p.Ala483_Ala485del) rs777514486
NM_001379200.1(TBX1):c.1419_1427dup (p.Ala485_Asn486insAlaAlaAla)
NM_001379200.1(TBX1):c.1419_1430del (p.Ala482_Ala485del) rs751264690
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del) rs780815537
NM_001379200.1(TBX1):c.141C>T (p.Tyr47=)
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
NM_001379200.1(TBX1):c.1422C>T (p.Ala474=)
NM_001379200.1(TBX1):c.1422CGC[1] (p.Ala483_Ala485del)
NM_001379200.1(TBX1):c.1422CGC[5] (p.Ala485dup) rs756680878
NM_001379200.1(TBX1):c.1422CGC[6] (p.Ala485_Asn486insAlaAla)
NM_001379200.1(TBX1):c.1423G>A (p.Ala475Thr)
NM_001379200.1(TBX1):c.1426_1455del (p.Ala476_Ala485del) rs746335599
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs746335599
NM_001379200.1(TBX1):c.1428C>T (p.Ala476=)
NM_001379200.1(TBX1):c.1431C>A (p.Ala477=)
NM_001379200.1(TBX1):c.1431_1439del (p.Ala483_Ala485del) rs774489872
NM_001379200.1(TBX1):c.1434T>C (p.Ala478=)
NM_001379200.1(TBX1):c.1434T>G (p.Ala478=)
NM_001379200.1(TBX1):c.1436_1474dup (p.Ala479_Ala491dup) rs1569024504
NM_001379200.1(TBX1):c.1437C>G (p.Ala479=)
NM_001379200.1(TBX1):c.143G>T (p.Gly48Val)
NM_001379200.1(TBX1):c.1440A>G (p.Ala480=)
NM_001379200.1(TBX1):c.1440_1448del (p.Ala483_Ala485del) rs748434309
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup) rs748434309
NM_001379200.1(TBX1):c.1440_1454dup (p.Ala485_Asn486insAlaAlaAlaAlaAla)
NM_001379200.1(TBX1):c.1443T>C (p.Ala481=)
NM_001379200.1(TBX1):c.1443_1451dup (p.Ala483_Ala485dup) rs760701410
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
NM_001379200.1(TBX1):c.1451C>T (p.Ala484Val) rs1407079342
NM_001379200.1(TBX1):c.1459A>G (p.Met487Val)
NM_001379200.1(TBX1):c.1459A>T (p.Met487Leu) rs1936874664
NM_001379200.1(TBX1):c.1461G>A (p.Met487Ile) rs371506174
NM_001379200.1(TBX1):c.1465T>C (p.Ser489Pro)
NM_001379200.1(TBX1):c.1465TCG[1] (p.Ser490del)
NM_001379200.1(TBX1):c.1466C>T (p.Ser489Leu) rs2145839683
NM_001379200.1(TBX1):c.1468T>C (p.Ser490Pro)
NM_001379200.1(TBX1):c.1473C>T (p.Ala491=) rs775895785
NM_001379200.1(TBX1):c.1474G>T (p.Gly492Ter) rs541198585
NM_001379200.1(TBX1):c.1483_1488del (p.Pro495_Pro496del)
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln) rs762076391
NM_001379200.1(TBX1):c.1488C>T (p.Pro496=)
NM_001379200.1(TBX1):c.1495T>G (p.Tyr499Asp)
NM_001379200.1(TBX1):c.1500C>T (p.Asp500=)
NM_001379200.1(TBX1):c.1501T>A (p.Tyr501Asn)
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
NM_001379200.1(TBX1):c.1508C>T (p.Pro503Leu)
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del) rs1601282938
NM_001379200.1(TBX1):c.153G>A (p.Glu51=)
NM_001379200.1(TBX1):c.154C>A (p.Pro52Thr)
NM_001379200.1(TBX1):c.156C>A (p.Pro52=)
NM_001379200.1(TBX1):c.156C>T (p.Pro52=)
NM_001379200.1(TBX1):c.157C>T (p.Pro53Ser) rs1936638931
NM_001379200.1(TBX1):c.158CGC[3] (p.Pro56_Pro57del) rs886038791
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup) rs886038791
NM_001379200.1(TBX1):c.166C>T (p.Pro56Ser)
NM_001379200.1(TBX1):c.167_229del (p.Pro56_Pro76del) rs2145827836
NM_001379200.1(TBX1):c.170C>T (p.Pro57Leu)
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)
NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del) rs1569018211
NM_001379200.1(TBX1):c.182C>T (p.Pro61Leu) rs1936640287
NM_001379200.1(TBX1):c.183G>T (p.Pro61=) rs1422322991
NM_001379200.1(TBX1):c.185G>A (p.Cys62Tyr)
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter) rs2145827917
NM_001379200.1(TBX1):c.187GCC[3] (p.Ala66del)
NM_001379200.1(TBX1):c.187GCC[5] (p.Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.187GCC[7] (p.Ala64_Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.194_202del (p.Ala65_Pro67del) rs1601283061
NM_001379200.1(TBX1):c.195C>A (p.Ala65=)
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs) rs2145827929
NM_001379200.1(TBX1):c.198_229dup (p.His77fs)
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) rs1936640897
NM_001379200.1(TBX1):c.199_227del (p.Pro67fs)
NM_001379200.1(TBX1):c.201dup (p.Gly68fs)
NM_001379200.1(TBX1):c.203G>A (p.Gly68Asp)
NM_001379200.1(TBX1):c.212G>A (p.Gly71Asp)
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.215CGC[7] (p.Pro75_Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu) rs1936642852
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser) rs1936642931
NM_001379200.1(TBX1):c.221C>T (p.Pro74Leu)
NM_001379200.1(TBX1):c.224C>T (p.Pro75Leu)
NM_001379200.1(TBX1):c.225G>C (p.Pro75=)
NM_001379200.1(TBX1):c.227C>T (p.Pro76Leu)
NM_001379200.1(TBX1):c.228G>T (p.Pro76=)
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
NM_001379200.1(TBX1):c.230A>T (p.His77Leu)
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr) rs1028072654
NM_001379200.1(TBX1):c.234C>T (p.Ala78=)
NM_001379200.1(TBX1):c.237C>T (p.Tyr79=)
NM_001379200.1(TBX1):c.239C>A (p.Pro80Gln)
NM_001379200.1(TBX1):c.239C>G (p.Pro80Arg) rs984681986
NM_001379200.1(TBX1):c.240G>A (p.Pro80=)
NM_001379200.1(TBX1):c.243del (p.Phe81fs)
NM_001379200.1(TBX1):c.245C>A (p.Ala82Glu)
NM_001379200.1(TBX1):c.246G>T (p.Ala82=) rs1201666534
NM_001379200.1(TBX1):c.247C>T (p.Pro83Ser)
NM_001379200.1(TBX1):c.253G>A (p.Ala85Thr) rs769629385
NM_001379200.1(TBX1):c.258G>A (p.Gly86=)
NM_001379200.1(TBX1):c.258G>C (p.Gly86=)
NM_001379200.1(TBX1):c.259G>T (p.Ala87Ser)
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
NM_001379200.1(TBX1):c.265_276del (p.Thr89_Ala92del)
NM_001379200.1(TBX1):c.273C>T (p.Ala91=) rs1936644941
NM_001379200.1(TBX1):c.277_278delinsAA (p.Ala93Asn)
NM_001379200.1(TBX1):c.284C>G (p.Pro95Arg) rs775295536
NM_001379200.1(TBX1):c.285C>G (p.Pro95=)
NM_001379200.1(TBX1):c.290G>A (p.Gly97Asp)
NM_001379200.1(TBX1):c.297G>A (p.Gly99=)
NM_001379200.1(TBX1):c.302G>C (p.Ser101Thr)
NM_001379200.1(TBX1):c.306C>T (p.Cys102=)
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr) rs1936647003
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter) rs1555895466
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
NM_001379200.1(TBX1):c.324G>T (p.Ala108=)
NM_001379200.1(TBX1):c.326C>T (p.Pro109Leu) rs754087937
NM_001379200.1(TBX1):c.328G>T (p.Val110Leu) rs1221938042
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
NM_001379200.1(TBX1):c.341C>T (p.Ala114Val)
NM_001379200.1(TBX1):c.353G>A (p.Gly118Asp)
NM_001379200.1(TBX1):c.363G>T (p.Val121=)
NM_001379200.1(TBX1):c.366G>C (p.Gln122His)
NM_001379200.1(TBX1):c.369A>G (p.Leu123=) rs541899328
NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
NM_001379200.1(TBX1):c.373A>T (p.Met125Leu)
NM_001379200.1(TBX1):c.380C>T (p.Ala127Val) rs1601283489
NM_001379200.1(TBX1):c.381G>T (p.Ala127=)
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu) rs772419022
NM_001379200.1(TBX1):c.399C>T (p.Asn133=) rs2145828636
NM_001379200.1(TBX1):c.402G>C (p.Gln134His)
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) rs1445910672
NM_001379200.1(TBX1):c.421G>C (p.Val141Leu)
NM_001379200.1(TBX1):c.428A>G (p.Lys143Arg)
NM_001379200.1(TBX1):c.429G>A (p.Lys143=)
NM_001379200.1(TBX1):c.42G>T (p.Ser14=)
NM_001379200.1(TBX1):c.432C>T (p.Ala144=)
NM_001379200.1(TBX1):c.433G>A (p.Gly145Ser)
NM_001379200.1(TBX1):c.437+18C>G
NM_001379200.1(TBX1):c.437+18C>T
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.437+3C>G rs759797253
NM_001379200.1(TBX1):c.437+3C>T rs759797253
NM_001379200.1(TBX1):c.437+8C>T
NM_001379200.1(TBX1):c.438-14C>G
NM_001379200.1(TBX1):c.438-5C>A rs972035685
NM_001379200.1(TBX1):c.438G>A (p.Arg146=) rs2145832204
NM_001379200.1(TBX1):c.439C>T (p.Arg147Trp) rs1936724586
NM_001379200.1(TBX1):c.447T>G (p.Phe149Leu) rs41298814
NM_001379200.1(TBX1):c.448C>T (p.Pro150Ser) rs1936725102
NM_001379200.1(TBX1):c.45T>C (p.His15=)
NM_001379200.1(TBX1):c.465G>A (p.Lys155=)
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr) rs28939675
NM_001379200.1(TBX1):c.470T>C (p.Phe157Ser)
NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp)
NM_001379200.1(TBX1):c.474C>T (p.Gly158=)
NM_001379200.1(TBX1):c.483C>G (p.Pro161=)
NM_001379200.1(TBX1):c.485T>C (p.Met162Thr)
NM_001379200.1(TBX1):c.490G>A (p.Asp164Asn)
NM_001379200.1(TBX1):c.496A>G (p.Met166Val)
NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)
NM_001379200.1(TBX1):c.502C>T (p.Leu168Phe)
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) rs1936727304
NM_001379200.1(TBX1):c.507G>A (p.Met169Ile)
NM_001379200.1(TBX1):c.511T>A (p.Phe171Ile) rs2145832375
NM_001379200.1(TBX1):c.513C>T (p.Phe171=) rs764371266
NM_001379200.1(TBX1):c.514G>A (p.Val172Met)
NM_001379200.1(TBX1):c.518C>A (p.Pro173Gln) rs766205381
NM_001379200.1(TBX1):c.519G>T (p.Pro173=)
NM_001379200.1(TBX1):c.51C>T (p.Cys17=) rs2145827460
NM_001379200.1(TBX1):c.526G>A (p.Asp176Asn)
NM_001379200.1(TBX1):c.527A>G (p.Asp176Gly)
NM_001379200.1(TBX1):c.538C>A (p.Arg180=) rs746384751
NM_001379200.1(TBX1):c.538C>T (p.Arg180Trp)
NM_001379200.1(TBX1):c.539+14dup
NM_001379200.1(TBX1):c.539+16dup
NM_001379200.1(TBX1):c.539+6C>T
NM_001379200.1(TBX1):c.539+7G>C rs780062926
NM_001379200.1(TBX1):c.539+8A>T
NM_001379200.1(TBX1):c.539+8_539+10dup rs2145832489
NM_001379200.1(TBX1):c.539G>A (p.Arg180Gln) rs770313856
NM_001379200.1(TBX1):c.540-12G>C
NM_001379200.1(TBX1):c.540-18C>T
NM_001379200.1(TBX1):c.546C>T (p.Ala182=) rs1035684349
NM_001379200.1(TBX1):c.562T>C (p.Trp188Arg)
NM_001379200.1(TBX1):c.569T>C (p.Val190Ala)
NM_001379200.1(TBX1):c.570G>A (p.Val190=) rs2145833805
NM_001379200.1(TBX1):c.573G>C (p.Ala191=)
NM_001379200.1(TBX1):c.591C>T (p.Ala197=) rs1601289330
NM_001379200.1(TBX1):c.595C>T (p.Pro199Ser)
NM_001379200.1(TBX1):c.603C>T (p.Arg201=) rs761495882
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
NM_001379200.1(TBX1):c.606G>A (p.Val202=)
NM_001379200.1(TBX1):c.608A>G (p.His203Arg)
NM_001379200.1(TBX1):c.609C>G (p.His203Gln) rs74315522
NM_001379200.1(TBX1):c.612C>T (p.Tyr204=)
NM_001379200.1(TBX1):c.615C>T (p.His205=)
NM_001379200.1(TBX1):c.616C>G (p.Pro206Ala)
NM_001379200.1(TBX1):c.61G>A (p.Ala21Thr)
NM_001379200.1(TBX1):c.623C>T (p.Ser208Leu) rs1936759742
NM_001379200.1(TBX1):c.627T>C (p.Pro209=)
NM_001379200.1(TBX1):c.638C>T (p.Ala213Val)
NM_001379200.1(TBX1):c.639G>A (p.Ala213=)
NM_001379200.1(TBX1):c.639G>T (p.Ala213=) rs778071107
NM_001379200.1(TBX1):c.646A>G (p.Met216Val) rs1224140312
NM_001379200.1(TBX1):c.654A>G (p.Gln218=) rs2145834016
NM_001379200.1(TBX1):c.657C>A (p.Ile219=)
NM_001379200.1(TBX1):c.660G>A (p.Val220=)
NM_001379200.1(TBX1):c.667G>A (p.Asp223Asn) rs2145834053
NM_001379200.1(TBX1):c.679C>T (p.Leu227=)
NM_001379200.1(TBX1):c.684C>A (p.Thr228=)
NM_001379200.1(TBX1):c.68C>A (p.Thr23Lys)
NM_001379200.1(TBX1):c.702C>T (p.Asp234=) rs2145834112
NM_001379200.1(TBX1):c.706G>A (p.Gly236Ser) rs1294894854
NM_001379200.1(TBX1):c.708C>G (p.Gly236=)
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr) rs965143242
NM_001379200.1(TBX1):c.711+13C>T
NM_001379200.1(TBX1):c.711+16C>T
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001379200.1(TBX1):c.711+6C>T
NM_001379200.1(TBX1):c.712-12C>T
NM_001379200.1(TBX1):c.712-4C>G
NM_001379200.1(TBX1):c.732C>T (p.His244=)
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
NM_001379200.1(TBX1):c.754G>A (p.Val252Met)
NM_001379200.1(TBX1):c.761A>C (p.Tyr254Ser)
NM_001379200.1(TBX1):c.761A>G (p.Tyr254Cys)
NM_001379200.1(TBX1):c.762T>C (p.Tyr254=)
NM_001379200.1(TBX1):c.772C>T (p.Arg258Cys)
NM_001379200.1(TBX1):c.784G>C (p.Glu262Gln) rs553807294
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs) rs2145835194
NM_001379200.1(TBX1):c.795C>T (p.Ala265=)
NM_001379200.1(TBX1):c.796G>A (p.Glu266Lys)
NM_001379200.1(TBX1):c.801G>T (p.Glu267Asp)
NM_001379200.1(TBX1):c.813C>T (p.Thr271=) rs989667101
NM_001379200.1(TBX1):c.820T>C (p.Phe274Leu)
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) rs144848597
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
NM_001379200.1(TBX1):c.840C>G (p.Thr280=)
NM_001379200.1(TBX1):c.843G>A (p.Ala281=)
NM_001379200.1(TBX1):c.848C>G (p.Thr283Ser) rs2145835312
NM_001379200.1(TBX1):c.867+12_867+24del
NM_001379200.1(TBX1):c.867+18G>A
NM_001379200.1(TBX1):c.868-16A>T
NM_001379200.1(TBX1):c.868-19CA[3]
NM_001379200.1(TBX1):c.868-20T>G rs2145836392
NM_001379200.1(TBX1):c.868-4G>A
NM_001379200.1(TBX1):c.868-6C>T
NM_001379200.1(TBX1):c.868-7C>T
NM_001379200.1(TBX1):c.870C>A (p.Ile290=)
NM_001379200.1(TBX1):c.876G>A (p.Gln292=)
NM_001379200.1(TBX1):c.881del (p.Lys294fs) rs2145836457
NM_001379200.1(TBX1):c.884T>C (p.Ile295Thr)
NM_001379200.1(TBX1):c.897C>T (p.Pro299=)
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) rs1936634853
NM_001379200.1(TBX1):c.909C>T (p.Gly303=)
NM_001379200.1(TBX1):c.911T>C (p.Phe304Ser)
NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr) rs1936813859
NM_001379200.1(TBX1):c.92G>T (p.Gly31Val)
NM_001379200.1(TBX1):c.930G>A (p.Glu310=) rs1185050794
NM_001379200.1(TBX1):c.935+14C>T
NM_001379200.1(TBX1):c.935+15C>T
NM_001379200.1(TBX1):c.935+16C>A rs200879129
NM_001379200.1(TBX1):c.935+16dup
NM_001379200.1(TBX1):c.935+17G>A
NM_001379200.1(TBX1):c.935+17GA[2] rs770044781
NM_001379200.1(TBX1):c.935+17del
NM_001379200.1(TBX1):c.935+19G>C
NM_001379200.1(TBX1):c.936-15G>A
NM_001379200.1(TBX1):c.936-15G>C
NM_001379200.1(TBX1):c.936-16C>A
NM_001379200.1(TBX1):c.936-4G>C
NM_001379200.1(TBX1):c.936-6C>T
NM_001379200.1(TBX1):c.936-8G>A rs753380966
NM_001379200.1(TBX1):c.936-9C>G
NM_001379200.1(TBX1):c.936-9C>T
NM_001379200.1(TBX1):c.936-9del rs763127510
NM_001379200.1(TBX1):c.938C>A (p.Pro313His) rs1014592830
NM_001379200.1(TBX1):c.938C>T (p.Pro313Leu)
NM_001379200.1(TBX1):c.942G>T (p.Arg314=)
NM_001379200.1(TBX1):c.949C>G (p.Arg317Gly)
NM_001379200.1(TBX1):c.950G>T (p.Arg317Leu)
NM_001379200.1(TBX1):c.954_965del (p.Gly319_Pro322del)
NM_001379200.1(TBX1):c.955G>T (p.Gly319Cys) rs41298838
NM_001379200.1(TBX1):c.962T>C (p.Leu321Pro) rs2145836969
NM_001379200.1(TBX1):c.965C>A (p.Pro322Gln)
NM_001379200.1(TBX1):c.966G>A (p.Pro322=)
NM_001379200.1(TBX1):c.971T>G (p.Met324Arg)
NM_001379200.1(TBX1):c.972G>C (p.Met324Ile)
NM_001379200.1(TBX1):c.974G>C (p.Ser325Thr) rs775788782
NM_001379200.1(TBX1):c.985C>T (p.Arg329Cys) rs773107514
NM_001379200.1(TBX1):c.990G>A (p.Ser330=)
NM_080646.2(TBX1):c.1072_1073del (p.Glu358fs)
NM_080646.2(TBX1):c.1143_1149delinsTGGGTATTG (p.Phe382fs)
NM_080647.1(TBX1):c.-4_6del (p.Met1fs)
NM_080647.1(TBX1):c.15C>T (p.Thr5=) rs764497467
NM_080647.1(TBX1):c.28A>G (p.Met10Val) rs1936578247
NM_080647.1(TBX1):c.34+12G>A
NM_080647.1(TBX1):c.34+17T>A
NM_080647.1(TBX1):c.34+18G>C
NM_080647.1(TBX1):c.34+2T>A
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_080647.1:g.(?_19241636)_(21349222_?)del

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