ClinVar Miner

List of variants studied for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 493
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_005359.6(SMAD4):c.*5535A>G rs75712226 0.07867
NM_005359.6(SMAD4):c.*5547A>G rs11662245 0.07079
NM_005359.6(SMAD4):c.*6423G>C rs2282544 0.04514
NM_005359.6(SMAD4):c.*685A>C rs16952798 0.03369
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_005359.6(SMAD4):c.*5553A>G rs867342943 0.01606
NM_005359.6(SMAD4):c.*5534C>G rs923444877 0.01573
NM_005359.6(SMAD4):c.*5170C>T rs117142232 0.01554
NM_005359.6(SMAD4):c.*5083G>A rs145596898 0.01488
NM_005359.6(SMAD4):c.*5555A>G rs1047967021 0.01458
NM_005359.6(SMAD4):c.*5545G>A rs752846586 0.01214
NM_005359.6(SMAD4):c.*2122A>G rs149424787 0.01125
NM_005359.6(SMAD4):c.*6513C>T rs76020793 0.00838
NM_005359.6(SMAD4):c.*5549A>G rs777856072 0.00617
NM_005359.6(SMAD4):c.*5557A>G rs1414914656 0.00550
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.*3398A>G rs182735651 0.00515
NM_005359.6(SMAD4):c.*3662C>T rs114852346 0.00503
NM_005359.6(SMAD4):c.*5578G>C rs867684157 0.00469
NM_005359.6(SMAD4):c.*1820T>G rs141309481 0.00426
NM_005359.6(SMAD4):c.*5551A>G rs202140561 0.00329
NM_005359.6(SMAD4):c.*5259A>T rs139414609 0.00320
NM_005359.6(SMAD4):c.*2796G>T rs4939651 0.00278
NM_005359.6(SMAD4):c.*5419T>C rs146551171 0.00277
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_005359.6(SMAD4):c.*2989A>G rs139526377 0.00208
NM_005359.6(SMAD4):c.*4748C>T rs375580807 0.00175
NM_005359.6(SMAD4):c.*2488T>A rs148190627 0.00169
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_005359.6(SMAD4):c.*2914C>T rs147352474 0.00075
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_005359.6(SMAD4):c.*6009G>C rs181250637 0.00070
NM_005359.6(SMAD4):c.*202A>G rs765823244 0.00064
NM_005359.6(SMAD4):c.*2361A>G rs143842829 0.00061
NM_005359.6(SMAD4):c.*2962C>T rs543699844 0.00059
NM_005359.6(SMAD4):c.*5627G>A rs185010226 0.00055
NM_005359.6(SMAD4):c.*1874C>G rs761701805 0.00053
NM_005359.6(SMAD4):c.*4378T>G rs540039847 0.00050
NM_005359.6(SMAD4):c.*5541G>A rs1025975410 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005359.6(SMAD4):c.*6492A>T rs569819237 0.00049
NM_005359.6(SMAD4):c.*6522C>T rs183472455 0.00047
NM_005359.6(SMAD4):c.*4862A>G rs139595540 0.00045
NM_005359.6(SMAD4):c.*4066C>T rs772166247 0.00036
NM_005359.6(SMAD4):c.*412A>G rs28403611 0.00036
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.-495C>G rs886053886 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_005359.6(SMAD4):c.*1659C>A rs574896468 0.00026
NM_005359.6(SMAD4):c.*4262T>G rs371901376 0.00021
NM_005359.6(SMAD4):c.*5801T>C rs577928234 0.00021
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005359.6(SMAD4):c.*1187A>G rs181664459 0.00012
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120 0.00012
NM_005359.6(SMAD4):c.*1661C>A rs989803194 0.00011
NM_005359.6(SMAD4):c.*2217G>A rs1035391862 0.00011
NM_005359.6(SMAD4):c.*2353C>T rs550660083 0.00011
NM_005359.6(SMAD4):c.*5096C>A rs761008429 0.00011
NM_005359.6(SMAD4):c.*12G>A rs148687037 0.00010
NM_005359.6(SMAD4):c.*1812T>G rs557065270 0.00010
NM_005359.6(SMAD4):c.*5235C>G rs755051361 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.*3763C>T rs571174422 0.00009
NM_005359.6(SMAD4):c.*969A>G rs745934938 0.00009
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005359.6(SMAD4):c.*5542C>T rs778816929 0.00007
NM_005359.6(SMAD4):c.*5833G>A rs190039588 0.00007
NM_005359.6(SMAD4):c.*2793T>G rs886053909 0.00006
NM_005359.6(SMAD4):c.*5745T>C rs780866822 0.00006
NM_005359.6(SMAD4):c.*81T>G rs886053894 0.00006
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234 0.00006
NM_005359.6(SMAD4):c.667+9T>C rs776523203 0.00006
NM_005359.6(SMAD4):c.*1067G>A rs542839921 0.00005
NM_005359.6(SMAD4):c.*218A>G rs886053895 0.00005
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=) rs753128184 0.00005
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005359.6(SMAD4):c.*1386G>T rs553408737 0.00004
NM_005359.6(SMAD4):c.*170A>G rs1179236471 0.00004
NM_005359.6(SMAD4):c.*259T>C rs1178398899 0.00004
NM_005359.6(SMAD4):c.*3223A>G rs1202921300 0.00004
NM_005359.6(SMAD4):c.*837A>G rs886053897 0.00004
NM_005359.6(SMAD4):c.-333C>A rs886053888 0.00004
NM_005359.6(SMAD4):c.-401C>T rs555375675 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005359.6(SMAD4):c.1236C>T (p.Tyr412=) rs121912577 0.00004
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) rs756795016 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005359.6(SMAD4):c.*3506C>T rs886053913 0.00003
NM_005359.6(SMAD4):c.*363C>T rs939737709 0.00003
NM_005359.6(SMAD4):c.*5282T>G rs1389511065 0.00003
NM_005359.6(SMAD4):c.*850G>A rs886053898 0.00003
NM_005359.6(SMAD4):c.1215C>T (p.His405=) rs751732234 0.00003
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=) rs769607309 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.332A>C (p.His111Pro) rs1064794363 0.00003
NM_005359.6(SMAD4):c.411A>G (p.Val137=) rs201296880 0.00003
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005359.6(SMAD4):c.*1457C>T rs886053901 0.00002
NM_005359.6(SMAD4):c.*245T>C rs753295366 0.00002
NM_005359.6(SMAD4):c.*2675A>C rs1352805500 0.00002
NM_005359.6(SMAD4):c.*2682T>C rs557955183 0.00002
NM_005359.6(SMAD4):c.*2693A>G rs778780100 0.00002
NM_005359.6(SMAD4):c.*5080A>G rs532965680 0.00002
NM_005359.6(SMAD4):c.*580A>G rs1421486746 0.00002
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005359.6(SMAD4):c.1140-11T>A rs1224777335 0.00002
NM_005359.6(SMAD4):c.132A>G (p.Val44=) rs965942065 0.00002
NM_005359.6(SMAD4):c.1611C>T (p.Asp537=) rs369598262 0.00002
NM_005359.6(SMAD4):c.294C>T (p.Leu98=) rs202126703 0.00002
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048 0.00002
NM_005359.6(SMAD4):c.369T>C (p.Cys123=) rs140926102 0.00002
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) rs780716382 0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792 0.00002
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu) rs370176106 0.00002
NM_005359.6(SMAD4):c.*1277G>T rs886053900 0.00001
NM_005359.6(SMAD4):c.*1315G>A rs1006483392 0.00001
NM_005359.6(SMAD4):c.*1499T>G rs973805114 0.00001
NM_005359.6(SMAD4):c.*1608T>C rs1269516250 0.00001
NM_005359.6(SMAD4):c.*1786A>G rs1036389216 0.00001
NM_005359.6(SMAD4):c.*2354G>A rs886053905 0.00001
NM_005359.6(SMAD4):c.*2897G>A rs772039050 0.00001
NM_005359.6(SMAD4):c.*30A>C rs767288576 0.00001
NM_005359.6(SMAD4):c.*3186T>C rs886053911 0.00001
NM_005359.6(SMAD4):c.*332A>G rs975068806 0.00001
NM_005359.6(SMAD4):c.*334C>T rs534790830 0.00001
NM_005359.6(SMAD4):c.*4643T>C rs369040052 0.00001
NM_005359.6(SMAD4):c.*4707G>A rs1265840002 0.00001
NM_005359.6(SMAD4):c.*579G>T rs1013268028 0.00001
NM_005359.6(SMAD4):c.*5985A>G rs886053934 0.00001
NM_005359.6(SMAD4):c.*605A>C rs1910543316 0.00001
NM_005359.6(SMAD4):c.*6408C>T rs557992238 0.00001
NM_005359.6(SMAD4):c.*720G>A rs976054814 0.00001
NM_005359.6(SMAD4):c.-127G>A rs1348701370 0.00001
NM_005359.6(SMAD4):c.-128+12A>G rs886053891 0.00001
NM_005359.6(SMAD4):c.-3C>G rs886053892 0.00001
NM_005359.6(SMAD4):c.-504A>G rs900453280 0.00001
NM_005359.6(SMAD4):c.-531G>C rs988578345 0.00001
NM_005359.6(SMAD4):c.-9C>G rs864622289 0.00001
NM_005359.6(SMAD4):c.1005A>G (p.Val335=) rs878854762 0.00001
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) rs747360831 0.00001
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927 0.00001
NM_005359.6(SMAD4):c.1059C>T (p.Tyr353=) rs863224400 0.00001
NM_005359.6(SMAD4):c.1098A>G (p.Gln366=) rs990054989 0.00001
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499 0.00001
NM_005359.6(SMAD4):c.1140G>A (p.Arg380=) rs1060504025 0.00001
NM_005359.6(SMAD4):c.1213C>T (p.His405Tyr) rs1179609154 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=) rs1406947861 0.00001
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791 0.00001
NM_005359.6(SMAD4):c.1371A>G (p.Ala457=) rs750933193 0.00001
NM_005359.6(SMAD4):c.1393G>A (p.Val465Met) rs786201798 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520 0.00001
NM_005359.6(SMAD4):c.150A>G (p.Lys50=) rs749503989 0.00001
NM_005359.6(SMAD4):c.160T>C (p.Leu54=) rs1053158497 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.249+9T>C rs770523387 0.00001
NM_005359.6(SMAD4):c.250-14G>A rs1180310843 0.00001
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162 0.00001
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230 0.00001
NM_005359.6(SMAD4):c.336T>A (p.Val112=) rs1328102060 0.00001
NM_005359.6(SMAD4):c.375T>C (p.Ser125=) rs863224401 0.00001
NM_005359.6(SMAD4):c.387T>C (p.Asn129=) rs150229208 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005359.6(SMAD4):c.390A>G (p.Pro130=) rs755862230 0.00001
NM_005359.6(SMAD4):c.399C>T (p.Tyr133=) rs779069779 0.00001
NM_005359.6(SMAD4):c.408T>C (p.Val136=) rs1283790116 0.00001
NM_005359.6(SMAD4):c.424+6T>C rs771456293 0.00001
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn) rs750355699 0.00001
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser) rs751763157 0.00001
NM_005359.6(SMAD4):c.491A>G (p.His164Arg) rs876660058 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu) rs770798845 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu) rs752575871 0.00001
NM_005359.6(SMAD4):c.594A>C (p.Pro198=) rs547278031 0.00001
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser) rs757977781 0.00001
NM_005359.6(SMAD4):c.644C>G (p.Pro215Arg) rs777495692 0.00001
NM_005359.6(SMAD4):c.652C>A (p.Pro218Thr) rs1345146274 0.00001
NM_005359.6(SMAD4):c.667+3G>A rs757971589 0.00001
NM_005359.6(SMAD4):c.667+6T>C rs1060500745 0.00001
NM_005359.6(SMAD4):c.668-11T>G rs1469889617 0.00001
NM_005359.6(SMAD4):c.668-6C>G rs748992694 0.00001
NM_005359.6(SMAD4):c.668-7C>T rs1060504028 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.672G>A (p.Gln224=) rs1397172791 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.679A>G (p.Ser227Gly) rs1443767329 0.00001
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) rs1280682459 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391 0.00001
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967 0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) rs751985298 0.00001
NM_005359.6(SMAD4):c.768G>A (p.Gln256=) rs755677513 0.00001
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) rs763510526 0.00001
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.855C>T (p.Asn285=) rs1187796771 0.00001
NM_005359.6(SMAD4):c.856G>A (p.Gly286Ser) rs750111831 0.00001
NM_005359.6(SMAD4):c.870C>T (p.His290=) rs1060504029 0.00001
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404 0.00001
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) rs753358186 0.00001
NM_005359.6(SMAD4):c.888C>G (p.Pro296=) rs1060504026 0.00001
NM_005359.6(SMAD4):c.894C>T (p.Pro298=) rs781519690 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.932A>G (p.Gln311Arg) rs1381679797 0.00001
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val) rs748622028 0.00001
NC_000018.10:g.51058125del
NC_000018.10:g.51076638del
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.6(SMAD4):c.*1036C>G rs1910555271
NM_005359.6(SMAD4):c.*1141A>G rs1910558915
NM_005359.6(SMAD4):c.*1177G>A rs886053899
NM_005359.6(SMAD4):c.*1502T>C rs1224074483
NM_005359.6(SMAD4):c.*1513A>T rs75142398
NM_005359.6(SMAD4):c.*1801A>G rs886053904
NM_005359.6(SMAD4):c.*1864C>A rs561442548
NM_005359.6(SMAD4):c.*1866A>G rs4940037
NM_005359.6(SMAD4):c.*1G>C rs1555687622
NM_005359.6(SMAD4):c.*2099G>A rs1037211183
NM_005359.6(SMAD4):c.*2215C>T rs1035348290
NM_005359.6(SMAD4):c.*241T>C rs886053896
NM_005359.6(SMAD4):c.*2461C>T rs886053906
NM_005359.6(SMAD4):c.*2561G>C rs1910600689
NM_005359.6(SMAD4):c.*2674A>G rs886053907
NM_005359.6(SMAD4):c.*2941A>G rs1419101937
NM_005359.6(SMAD4):c.*3109T>A rs886053910
NM_005359.6(SMAD4):c.*3109T>C rs886053910
NM_005359.6(SMAD4):c.*3226G>C rs528878031
NM_005359.6(SMAD4):c.*3286A>T rs886053912
NM_005359.6(SMAD4):c.*3638T>G rs886053914
NM_005359.6(SMAD4):c.*3679A>G rs1910625936
NM_005359.6(SMAD4):c.*3746A>C rs1910627143
NM_005359.6(SMAD4):c.*3950A>G rs1910632230
NM_005359.6(SMAD4):c.*4085C>A rs886053917
NM_005359.6(SMAD4):c.*4987T>C rs188228460
NM_005359.6(SMAD4):c.*5530T>C rs886053921
NM_005359.6(SMAD4):c.*5609T>G rs1910688039
NM_005359.6(SMAD4):c.*5631A>G rs1046084651
NM_005359.6(SMAD4):c.*5710T>A rs1910691490
NM_005359.6(SMAD4):c.*5791C>T rs886053932
NM_005359.6(SMAD4):c.*5874C>T rs886053933
NM_005359.6(SMAD4):c.*5994A>C rs3819122
NM_005359.6(SMAD4):c.*6057G>T rs886053935
NM_005359.6(SMAD4):c.*704G>C rs964306349
NM_005359.6(SMAD4):c.*745C>T rs1910546788
NM_005359.6(SMAD4):c.*936A>G rs1910552244
NM_005359.6(SMAD4):c.-233G>C rs886053890
NM_005359.6(SMAD4):c.-313C>A rs886053889
NM_005359.6(SMAD4):c.-3C>A rs886053892
NM_005359.6(SMAD4):c.-400C>A rs1410779875
NM_005359.6(SMAD4):c.-476C>A rs886053887
NM_005359.6(SMAD4):c.-69G>A rs772186355
NM_005359.6(SMAD4):c.-7del
NM_005359.6(SMAD4):c.1000C>A (p.Gln334Lys)
NM_005359.6(SMAD4):c.1002G>T (p.Gln334His) rs773598775
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) rs1555686469
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys) rs377767346
NM_005359.6(SMAD4):c.1059C>A (p.Tyr353Ter)
NM_005359.6(SMAD4):c.1067del (p.Pro356fs) rs1599195489
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=) rs765051479
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) rs1555686503
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.6(SMAD4):c.1140-6C>T rs1599196889
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.6(SMAD4):c.1189G>A (p.Val397Ile) rs2144452046
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) rs1599196995
NM_005359.6(SMAD4):c.1200G>T (p.Arg400Ser) rs876658516
NM_005359.6(SMAD4):c.1206T>A (p.Leu402=) rs758696549
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) rs878854765
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs) rs730881952
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1257G>C (p.Gly419=) rs1303474905
NM_005359.6(SMAD4):c.1258C>T (p.Arg420Cys) rs1367209662
NM_005359.6(SMAD4):c.1295G>A (p.Ser432Asn) rs770301659
NM_005359.6(SMAD4):c.1295G>C (p.Ser432Thr)
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1308+2T>C rs1555686624
NM_005359.6(SMAD4):c.1308+2T>G rs1555686624
NM_005359.6(SMAD4):c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGC
NM_005359.6(SMAD4):c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGC
NM_005359.6(SMAD4):c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGC
NM_005359.6(SMAD4):c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
NM_005359.6(SMAD4):c.1308+5G>C
NM_005359.6(SMAD4):c.1309-13T>G
NM_005359.6(SMAD4):c.1309-2A>G
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_005359.6(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.6(SMAD4):c.1321C>T (p.Arg441Cys) rs1599204052
NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter) rs1555687378
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1352C>T (p.Ala451Val) rs1275841831
NM_005359.6(SMAD4):c.1355del (p.Ala452fs)
NM_005359.6(SMAD4):c.1373C>T (p.Ala458Val)
NM_005359.6(SMAD4):c.1380C>T (p.Ala460=) rs1910480314
NM_005359.6(SMAD4):c.1393G>T (p.Val465Leu) rs786201798
NM_005359.6(SMAD4):c.1405A>G (p.Ile469Val) rs876658851
NM_005359.6(SMAD4):c.1409del (p.Pro470fs) rs1555687387
NM_005359.6(SMAD4):c.1418del (p.Gly473fs) rs1555687388
NM_005359.6(SMAD4):c.1444A>C (p.Ile482Leu)
NM_005359.6(SMAD4):c.1444A>G (p.Ile482Val) rs864622736
NM_005359.6(SMAD4):c.1447+15C>A rs1910484768
NM_005359.6(SMAD4):c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC
NM_005359.6(SMAD4):c.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG
NM_005359.6(SMAD4):c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
NM_005359.6(SMAD4):c.1447+6_1447+7insGTTG
NM_005359.6(SMAD4):c.1447A>G (p.Ser483Gly) rs1910483270
NM_005359.6(SMAD4):c.1479T>C (p.Asp493=) rs1568211528
NM_005359.6(SMAD4):c.1489C>T (p.Arg497Cys) rs762118751
NM_005359.6(SMAD4):c.1490G>A (p.Arg497His) rs1910519516
NM_005359.6(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1512T>C (p.Ser504=) rs1599205322
NM_005359.6(SMAD4):c.1515dup (p.Val506fs)
NM_005359.6(SMAD4):c.1523del (p.Gly508fs) rs2144478656
NM_005359.6(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.6(SMAD4):c.1540C>T (p.Pro514Ser)
NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu) rs1910522327
NM_005359.6(SMAD4):c.1541C>T (p.Pro514Leu)
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.6(SMAD4):c.1546C>T (p.Gln516Ter)
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn) rs1910523061
NM_005359.6(SMAD4):c.1552dup (p.Ile518fs)
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1563_1567del (p.Pro522fs)
NM_005359.6(SMAD4):c.156T>A (p.Asp52Glu)
NM_005359.6(SMAD4):c.1574T>C (p.Ile525Thr) rs1304558237
NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp) rs1568211604
NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs) rs377767379
NM_005359.6(SMAD4):c.1599C>G (p.Leu533=)
NM_005359.6(SMAD4):c.15T>C (p.Ser5=)
NM_005359.6(SMAD4):c.1606C>T (p.Leu536=) rs587780790
NM_005359.6(SMAD4):c.1612_1625del (p.Glu538fs) rs377767385
NM_005359.6(SMAD4):c.1630C>T (p.Pro544Ser)
NM_005359.6(SMAD4):c.1631C>T (p.Pro544Leu)
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.1634T>C (p.Ile545Thr)
NM_005359.6(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.6(SMAD4):c.1639del (p.Asp547fs)
NM_005359.6(SMAD4):c.1647del (p.Gln549fs) rs1555687615
NM_005359.6(SMAD4):c.1657T>C (p.Ter553Arg)
NM_005359.6(SMAD4):c.1659A>C (p.Ter553Cys)
NM_005359.6(SMAD4):c.168T>A (p.Ser56=) rs1333506128
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.6(SMAD4):c.177A>G (p.Thr59=) rs774480995
NM_005359.6(SMAD4):c.1A>G (p.Met1Val) rs1064795777
NM_005359.6(SMAD4):c.216T>C (p.Val72=)
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.220A>G (p.Ile74Val)
NM_005359.6(SMAD4):c.23A>G (p.Asn8Ser) rs876658568
NM_005359.6(SMAD4):c.244C>G (p.Leu82Val)
NM_005359.6(SMAD4):c.249+1G>T rs2144402036
NM_005359.6(SMAD4):c.250-10A>G rs1599182364
NM_005359.6(SMAD4):c.250-2A>G rs1555685142
NM_005359.6(SMAD4):c.259C>T (p.Arg87Trp)
NM_005359.6(SMAD4):c.264A>G (p.Lys88=) rs1555685155
NM_005359.6(SMAD4):c.293T>G (p.Leu98Arg)
NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter) rs1909619442
NM_005359.6(SMAD4):c.310C>G (p.Leu104Val)
NM_005359.6(SMAD4):c.31A>C (p.Thr11Pro)
NM_005359.6(SMAD4):c.353C>T (p.Ala118Val) rs2144405775
NM_005359.6(SMAD4):c.359A>T (p.Asp120Val)
NM_005359.6(SMAD4):c.39T>C (p.Asn13=) rs376371717
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.6(SMAD4):c.421A>G (p.Ile141Val)
NM_005359.6(SMAD4):c.425-11A>C
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) rs377767328
NM_005359.6(SMAD4):c.455-2A>T
NM_005359.6(SMAD4):c.455-4A>G rs1599186761
NM_005359.6(SMAD4):c.455-8C>T rs1057520412
NM_005359.6(SMAD4):c.460T>G (p.Ser154Ala) rs864622209
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005359.6(SMAD4):c.464G>A (p.Ser155Asn) rs199790852
NM_005359.6(SMAD4):c.466ATG[1] (p.Met157del) rs786201939
NM_005359.6(SMAD4):c.473T>G (p.Val158Gly)
NM_005359.6(SMAD4):c.474G>A (p.Val158=) rs749594930
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005359.6(SMAD4):c.479A>T (p.Asp160Val)
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) rs1449334786
NM_005359.6(SMAD4):c.507G>A (p.Gln169=) rs876659426
NM_005359.6(SMAD4):c.512C>T (p.Ser171Leu) rs1568205010
NM_005359.6(SMAD4):c.513G>A (p.Ser171=) rs1210446538
NM_005359.6(SMAD4):c.513_514del (p.Leu172fs)
NM_005359.6(SMAD4):c.522T>C (p.Thr174=)
NM_005359.6(SMAD4):c.524A>G (p.Glu175Gly)
NM_005359.6(SMAD4):c.530A>G (p.His177Arg) rs1568205026
NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.541A>G (p.Thr181Ala) rs1599186888
NM_005359.6(SMAD4):c.542C>G (p.Thr181Ser) rs1909797937
NM_005359.6(SMAD4):c.544A>G (p.Ile182Val) rs1909797996
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.556C>A (p.Pro186Thr)
NM_005359.6(SMAD4):c.556C>G (p.Pro186Ala) rs1555685648
NM_005359.6(SMAD4):c.560G>A (p.Ser187Asn) rs927620013
NM_005359.6(SMAD4):c.570A>G (p.Ala190=)
NM_005359.6(SMAD4):c.574A>G (p.Thr192Ala) rs1599186944
NM_005359.6(SMAD4):c.586dup (p.Ser196fs)
NM_005359.6(SMAD4):c.591C>T (p.Thr197=) rs1464524083
NM_005359.6(SMAD4):c.592C>G (p.Pro198Ala)
NM_005359.6(SMAD4):c.593C>G (p.Pro198Arg) rs1189715258
NM_005359.6(SMAD4):c.593del (p.Pro198fs)
NM_005359.6(SMAD4):c.5A>C (p.Asp2Ala)
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.6(SMAD4):c.608C>T (p.Pro203Leu) rs779119136
NM_005359.6(SMAD4):c.609A>G (p.Pro203=) rs2144419276
NM_005359.6(SMAD4):c.617C>G (p.Ser206Cys)
NM_005359.6(SMAD4):c.624dup (p.Thr209fs)
NM_005359.6(SMAD4):c.625A>G (p.Thr209Ala) rs1555685670
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.6(SMAD4):c.635C>T (p.Ala212Val) rs1909801989
NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser) rs1064793270
NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala) rs1345146274
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG
NM_005359.6(SMAD4):c.667+5G>C
NM_005359.6(SMAD4):c.673C>T (p.Pro225Ser) rs2144426638
NM_005359.6(SMAD4):c.692del (p.Gly231fs)
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.699dup (p.Ser234Ter)
NM_005359.6(SMAD4):c.700A>G (p.Ser234Gly) rs758642067
NM_005359.6(SMAD4):c.711G>T (p.Leu237=) rs2144426991
NM_005359.6(SMAD4):c.715C>G (p.Gln239Glu) rs1163381283
NM_005359.6(SMAD4):c.719T>G (p.Ile240Arg)
NM_005359.6(SMAD4):c.737del (p.Pro246fs) rs2144427288
NM_005359.6(SMAD4):c.740G>A (p.Gly247Glu) rs1909893398
NM_005359.6(SMAD4):c.742C>G (p.Gln248Glu)
NM_005359.6(SMAD4):c.745C>A (p.Gln249Lys)
NM_005359.6(SMAD4):c.745C>G (p.Gln249Glu) rs1370953444
NM_005359.6(SMAD4):c.746A>G (p.Gln249Arg) rs371536364
NM_005359.6(SMAD4):c.747dup (p.Gln250fs)
NM_005359.6(SMAD4):c.752del (p.Asn251fs) rs1555685925
NM_005359.6(SMAD4):c.753_760delinsGTAG (p.Asn251_Thr254delinsLysTer)
NM_005359.6(SMAD4):c.754G>T (p.Gly252Ter)
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.6(SMAD4):c.758T>A (p.Phe253Tyr) rs2144427543
NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.6(SMAD4):c.788-12del rs1064794372
NM_005359.6(SMAD4):c.788-14G>T rs769943457
NM_005359.6(SMAD4):c.788-16G>A
NM_005359.6(SMAD4):c.788-1G>A
NM_005359.6(SMAD4):c.788-1G>C
NM_005359.6(SMAD4):c.788-9A>C rs775484792
NM_005359.6(SMAD4):c.789C>G (p.Asn263Lys) rs763510526
NM_005359.6(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTA (p.Trp268delinsCysTer) rs1909899495
NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTAG (p.Trp268delinsCysTer)
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn) rs1343555503
NM_005359.6(SMAD4):c.816G>A (p.Arg272=) rs1231028123
NM_005359.6(SMAD4):c.821C>T (p.Ala274Val) rs2144428659
NM_005359.6(SMAD4):c.830C>T (p.Thr277Ile)
NM_005359.6(SMAD4):c.844C>T (p.His282Tyr) rs1909902431
NM_005359.6(SMAD4):c.845A>C (p.His282Pro) rs1555685962
NM_005359.6(SMAD4):c.854del (p.Asn285fs)
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
NM_005359.6(SMAD4):c.87T>G (p.Gly29=) rs886053893
NM_005359.6(SMAD4):c.895G>C (p.Gly299Arg)
NM_005359.6(SMAD4):c.899A>T (p.His300Leu)
NM_005359.6(SMAD4):c.8A>G (p.Asn3Ser) rs757702252
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTAT
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTATTGGTGTTCCA
NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg) rs1555685979
NM_005359.6(SMAD4):c.905-7T>C
NM_005359.6(SMAD4):c.907C>G (p.Pro303Ala) rs1568206575
NM_005359.6(SMAD4):c.908C>A (p.Pro303His) rs2144433151
NM_005359.6(SMAD4):c.909T>C (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.6(SMAD4):c.915C>T (p.His305=) rs1909959040
NM_005359.6(SMAD4):c.91G>C (p.Glu31Gln)
NM_005359.6(SMAD4):c.921G>A (p.Glu307=) rs876660255
NM_005359.6(SMAD4):c.924T>C (p.Leu308=) rs864622414
NM_005359.6(SMAD4):c.926C>T (p.Ala309Val) rs1599191240
NM_005359.6(SMAD4):c.954T>C (p.Pro318=) rs773615487
NM_005359.6(SMAD4):c.955+5G>A rs1909960931
NM_005359.6(SMAD4):c.997G>A (p.Val333Ile) rs1274926456

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