ClinVar Miner

List of variants in gene SMAD4 studied for Juvenile polyposis syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 415
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HGVS dbSNP
NC_000018.9:g.(?_48556583)_(48556993_?)del
NC_000018.9:g.(?_48556583)_(48603156_?)dup
NC_000018.9:g.(?_48556583)_(48604847_?)del
NC_000018.9:g.(?_48556583)_(48604847_?)dup
NC_000018.9:g.(?_48573411)_(48604843_?)del
NC_000018.9:g.(?_48593389)_(48611412_?)del
NC_000018.9:g.(?_48602998)_(48604847_?)del
NC_000018.9:g.(?_48603008)_(48611412_?)dup
NM_005359.5(SMAD4):c.(?_-1)_(*1_?)del
NM_005359.5(SMAD4):c.(?_-1)_249+?dup
NM_005359.5(SMAD4):c.(?_-17093)_(1659_?)del
NM_005359.5(SMAD4):c.-9C>G rs864622289
NM_005359.5(SMAD4):c.1002G>T (p.Gln334His) rs773598775
NM_005359.5(SMAD4):c.1005A>G (p.Val335=) rs878854762
NM_005359.5(SMAD4):c.1006G>C (p.Gly336Arg) rs878854763
NM_005359.5(SMAD4):c.1007G>A (p.Gly336Glu) rs1060500732
NM_005359.5(SMAD4):c.102A>G (p.Thr34=) rs146104321
NM_005359.5(SMAD4):c.1035C>T (p.Cys345=) rs1555686471
NM_005359.5(SMAD4):c.1037delC (p.Pro346Leufs) rs377767343
NM_005359.5(SMAD4):c.1039A>G (p.Ile347Val) rs747360831
NM_005359.5(SMAD4):c.1042_1043del (p.Val348Tyrfs) rs377767344
NM_005359.5(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927
NM_005359.5(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.5(SMAD4):c.1058A>C (p.Tyr353Ser) rs377767346
NM_005359.5(SMAD4):c.1059C>T (p.Tyr353=) rs863224400
NM_005359.5(SMAD4):c.1075G>C (p.Gly359Arg) rs1555686486
NM_005359.5(SMAD4):c.1081C>A (p.Arg361Ser) rs80338963
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.1087T>C (p.Cys363Arg) rs377767348
NM_005359.5(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.5(SMAD4):c.1098A>G (p.Gln366=) rs990054989
NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694
NM_005359.5(SMAD4):c.1113delC (p.His371Glnfs) rs377767352
NM_005359.5(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499
NM_005359.5(SMAD4):c.1125C>T (p.Ala375=) rs1060504023
NM_005359.5(SMAD4):c.1126A>G (p.Ile376Val) rs1555686501
NM_005359.5(SMAD4):c.1134_1135delAG (p.Arg378Serfs) rs1555686503
NM_005359.5(SMAD4):c.1138A>T (p.Arg380Trp) rs1568208291
NM_005359.5(SMAD4):c.1138delA (p.Arg380Glyfs) rs1555686506
NM_005359.5(SMAD4):c.1139+10G>A rs1324590608
NM_005359.5(SMAD4):c.1139+10G>C rs1324590608
NM_005359.5(SMAD4):c.1139+1G>A rs377767354
NM_005359.5(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.5(SMAD4):c.1140-10T>A rs186332162
NM_005359.5(SMAD4):c.1140-10T>C rs186332162
NM_005359.5(SMAD4):c.1140-11T>A rs1224777335
NM_005359.5(SMAD4):c.1140-2A>C rs1568208715
NM_005359.5(SMAD4):c.1140-3A>C rs956212866
NM_005359.5(SMAD4):c.1140G>A (p.Arg380=) rs1060504025
NM_005359.5(SMAD4):c.1142T>A (p.Leu381Ter) rs863224507
NM_005359.5(SMAD4):c.1155A>G (p.Lys385=) rs752938351
NM_005359.5(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.5(SMAD4):c.1166_1167delTG (p.Leu389Terfs) rs1555686600
NM_005359.5(SMAD4):c.1168G>A (p.Glu390Lys) rs377767356
NM_005359.5(SMAD4):c.118A>G (p.Ile40Val) rs878854764
NM_005359.5(SMAD4):c.1193G>A (p.Trp398Ter) rs377767357
NM_005359.5(SMAD4):c.1198delA (p.Arg400Glyfs) rs1060500734
NM_005359.5(SMAD4):c.1200G>T (p.Arg400Ser) rs876658516
NM_005359.5(SMAD4):c.1206T>A (p.Leu402=) rs758696549
NM_005359.5(SMAD4):c.1206dupT (p.Ser403Terfs) rs878854765
NM_005359.5(SMAD4):c.1215C>T (p.His405=) rs751732234
NM_005359.5(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.5(SMAD4):c.1219G>C (p.Val407Leu) rs147621330
NM_005359.5(SMAD4):c.1226T>C (p.Val409Ala) rs1555686607
NM_005359.5(SMAD4):c.1228_1229delCA (p.Gln410Glufs) rs1555686608
NM_005359.5(SMAD4):c.1236C>G (p.Tyr412Ter) rs121912577
NM_005359.5(SMAD4):c.1242delA (p.Asp415Thrfs) rs377767358
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.5(SMAD4):c.1254T>G (p.Ala418=) rs1186154913
NM_005359.5(SMAD4):c.1257G>C (p.Gly419=) rs1303474905
NM_005359.5(SMAD4):c.1259G>A (p.Arg420His) rs1064793725
NM_005359.5(SMAD4):c.1268delG (p.Gly423Glufs) rs377767359
NM_005359.5(SMAD4):c.126T>C (p.Ser42=) rs1057523114
NM_005359.5(SMAD4):c.1271dup (p.Asp424Glufs) rs1555686616
NM_005359.5(SMAD4):c.1276G>A (p.Val426Ile) rs1555686617
NM_005359.5(SMAD4):c.127T>G (p.Leu43Val) rs863224731
NM_005359.5(SMAD4):c.1287C>G (p.Ile429Met) rs1555686621
NM_005359.5(SMAD4):c.1287C>T (p.Ile429=) rs1555686621
NM_005359.5(SMAD4):c.1295G>A (p.Ser432Asn) rs770301659
NM_005359.5(SMAD4):c.1299A>G (p.Ala433=) rs370558697
NM_005359.5(SMAD4):c.1308+10A>G rs1060504024
NM_005359.5(SMAD4):c.1308+1G>A rs587781618
NM_005359.5(SMAD4):c.1308+2T>C rs1555686624
NM_005359.5(SMAD4):c.1309-1G>A rs1555687377
NM_005359.5(SMAD4):c.1311C>G (p.Val437=) rs751539807
NM_005359.5(SMAD4):c.1324C>T (p.Gln442Ter) rs1555687378
NM_005359.5(SMAD4):c.132A>G (p.Val44=) rs965942065
NM_005359.5(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.5(SMAD4):c.1342C>T (p.Gln448Ter) rs377767361
NM_005359.5(SMAD4):c.1343_1365del (p.Gln448Argfs) rs377767362
NM_005359.5(SMAD4):c.1343_1367delAGCAGCAGGCGGCTACTGCACAAGC (p.Gln448Leufs) rs1568211187
NM_005359.5(SMAD4):c.1353_1354insGCTACTGCACAAGCTGCAGCAGCTGCCC (p.Gln461Argfs) rs786204125
NM_005359.5(SMAD4):c.1361_1364delCACA (p.Ala454Glufs) rs377767363
NM_005359.5(SMAD4):c.1371A>G (p.Ala457=) rs750933193
NM_005359.5(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.5(SMAD4):c.1393G>A (p.Val465Met) rs786201798
NM_005359.5(SMAD4):c.1393G>T (p.Val465Leu) rs786201798
NM_005359.5(SMAD4):c.1405A>G (p.Ile469Val) rs876658851
NM_005359.5(SMAD4):c.1407_1410dup (p.Gly471Profs) rs1555687386
NM_005359.5(SMAD4):c.1409_1410insCCCT (p.Gly471Profs) rs377767364
NM_005359.5(SMAD4):c.1409delC (p.Pro470Leufs) rs1555687387
NM_005359.5(SMAD4):c.1411_1435del (p.Gly471Leufs) rs377767365
NM_005359.5(SMAD4):c.1421delC (p.Ser474Terfs) rs377767366
NM_005359.5(SMAD4):c.1422A>C (p.Ser474=) rs786201261
NM_005359.5(SMAD4):c.1423G>C (p.Val475Leu) rs864622428
NM_005359.5(SMAD4):c.1444A>G (p.Ile482Val) rs864622736
NM_005359.5(SMAD4):c.1447+2T>C rs1060500740
NM_005359.5(SMAD4):c.1447+3A>T rs754526507
NM_005359.5(SMAD4):c.1447+4A>G
NM_005359.5(SMAD4):c.1447+9G>A rs878854766
NM_005359.5(SMAD4):c.1448-10T>C rs1284568919
NM_005359.5(SMAD4):c.1448G>A (p.Ser483Asn) rs786204060
NM_005359.5(SMAD4):c.1449T>G (p.Ser483Arg) rs745598003
NM_005359.5(SMAD4):c.1461T>A (p.Ala487=) rs769607309
NM_005359.5(SMAD4):c.1464T>C (p.Ala488=) rs1555687539
NM_005359.5(SMAD4):c.1472G>T (p.Gly491Val) rs377767367
NM_005359.5(SMAD4):c.1478A>C (p.Asp493Ala) rs377767368
NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.5(SMAD4):c.1489C>T (p.Arg497Cys) rs762118751
NM_005359.5(SMAD4):c.1492T>C (p.Leu498=) rs1057520520
NM_005359.5(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.5(SMAD4):c.1512delT (p.Phe505Leufs) rs864622252
NM_005359.5(SMAD4):c.1516G>A (p.Val506Met) rs1060500746
NM_005359.5(SMAD4):c.1523G>A (p.Gly508Asp) rs1555687572
NM_005359.5(SMAD4):c.1525T>A (p.Trp509Arg) rs377767369
NM_005359.5(SMAD4):c.1527G>A (p.Trp509Ter) rs377767370
NM_005359.5(SMAD4):c.1529G>T (p.Gly510Val) rs377767371
NM_005359.5(SMAD4):c.1529delG (p.Gly510Aspfs) rs1060500744
NM_005359.5(SMAD4):c.1533G>A (p.Pro511=) rs1057523968
NM_005359.5(SMAD4):c.1533G>T (p.Pro511=) rs1057523968
NM_005359.5(SMAD4):c.1534G>A (p.Asp512Asn) rs1555687578
NM_005359.5(SMAD4):c.153dupA (p.Asp52Argfs) rs786203560
NM_005359.5(SMAD4):c.1544delG (p.Arg515Asnfs) rs377767372
NM_005359.5(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.5(SMAD4):c.1547_1550dupAGAG (p.Ser517Argfs) rs377767373
NM_005359.5(SMAD4):c.1547dupA (p.Ser517Glufs) rs587783060
NM_005359.5(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.5(SMAD4):c.1562C>T (p.Thr521Ile) rs876659840
NM_005359.5(SMAD4):c.1564_1565delCC (p.Pro522Leufs) rs377767374
NM_005359.5(SMAD4):c.1571G>T (p.Trp524Leu) rs377767375
NM_005359.5(SMAD4):c.1572G>A (p.Trp524Ter) rs1568211588
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.1587dup (p.His530Thrfs) rs377767376
NM_005359.5(SMAD4):c.1588delC (p.His530Thrfs) rs377767377
NM_005359.5(SMAD4):c.1591C>T (p.Arg531Trp)
NM_005359.5(SMAD4):c.1596C>T (p.Ala532=) rs765606080
NM_005359.5(SMAD4):c.1597C>G (p.Leu533Val) rs377767381
NM_005359.5(SMAD4):c.1597C>T (p.Leu533Phe) rs377767381
NM_005359.5(SMAD4):c.159A>G (p.Glu53=) rs768796731
NM_005359.5(SMAD4):c.1606C>T (p.Leu536=) rs587780790
NM_005359.5(SMAD4):c.1607dup (p.Asp537Argfs) rs377767384
NM_005359.5(SMAD4):c.1608A>G (p.Leu536=) rs753128184
NM_005359.5(SMAD4):c.160T>C (p.Leu54=) rs1053158497
NM_005359.5(SMAD4):c.1610A>G (p.Asp537Gly) rs1555687605
NM_005359.5(SMAD4):c.1611C>T (p.Asp537=) rs369598262
NM_005359.5(SMAD4):c.1612G>T (p.Glu538Ter) rs1568211615
NM_005359.5(SMAD4):c.1616_1631del16insCA (p.Val539Alafs) rs1568211617
NM_005359.5(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.5(SMAD4):c.1632G>C (p.Pro544=) rs549489716
NM_005359.5(SMAD4):c.1634T>A (p.Ile545Asn) rs730881955
NM_005359.5(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.5(SMAD4):c.1644A>G (p.Pro548=) rs756795016
NM_005359.5(SMAD4):c.1645C>T (p.Gln549Ter) rs1555687613
NM_005359.5(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.5(SMAD4):c.1647delA (p.Gln549Hisfs) rs1555687615
NM_005359.5(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.5(SMAD4):c.1653A>G (p.Leu551=) rs199526820
NM_005359.5(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.5(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.5(SMAD4):c.177A>G (p.Thr59=) rs774480995
NM_005359.5(SMAD4):c.181A>C (p.Ile61Leu) rs1064794204
NM_005359.5(SMAD4):c.181A>G (p.Ile61Val) rs1064794204
NM_005359.5(SMAD4):c.183A>C (p.Ile61=) rs761937143
NM_005359.5(SMAD4):c.189A>G (p.Thr63=) rs1555685033
NM_005359.5(SMAD4):c.189_197delAAATGGAGCins44 (p.?)
NM_005359.5(SMAD4):c.192T>C (p.Asn64=) rs1555685037
NM_005359.5(SMAD4):c.20C>T (p.Thr7Met) rs372316981
NM_005359.5(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.5(SMAD4):c.228A>G (p.Arg76=) rs587780556
NM_005359.5(SMAD4):c.231A>G (p.Thr77=) rs760990830
NM_005359.5(SMAD4):c.23A>G (p.Asn8Ser) rs876658568
NM_005359.5(SMAD4):c.249+10A>C rs752243771
NM_005359.5(SMAD4):c.249+6T>A
NM_005359.5(SMAD4):c.249+9T>C rs770523387
NM_005359.5(SMAD4):c.249_249+6dup rs1555685040
NM_005359.5(SMAD4):c.255T>G (p.Ala85=) rs1555685152
NM_005359.5(SMAD4):c.260G>C (p.Arg87Pro) rs1060500735
NM_005359.5(SMAD4):c.261G>A (p.Arg87=) rs1057520857
NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs) rs1060500739
NM_005359.5(SMAD4):c.26C>T (p.Thr9Ile) rs1555684986
NM_005359.5(SMAD4):c.276T>C (p.His92=) rs762501162
NM_005359.5(SMAD4):c.290G>A (p.Arg97His) rs1555685159
NM_005359.5(SMAD4):c.31A>G (p.Thr11Ala) rs587780791
NM_005359.5(SMAD4):c.332A>C (p.His111Pro) rs1064794363
NM_005359.5(SMAD4):c.336T>A (p.Val112=) rs1328102060
NM_005359.5(SMAD4):c.340T>A (p.Tyr114Asn) rs1555685170
NM_005359.5(SMAD4):c.342T>C (p.Tyr114=) rs757211048
NM_005359.5(SMAD4):c.351T>C (p.Tyr117=) rs1555685176
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.366A>G (p.Lys122=) rs1057524633
NM_005359.5(SMAD4):c.367T>C (p.Cys123Arg) rs1568203472
NM_005359.5(SMAD4):c.369T>C (p.Cys123=) rs140926102
NM_005359.5(SMAD4):c.372T>C (p.Asp124=) rs1555685178
NM_005359.5(SMAD4):c.373_374insAT (p.Ser125Asnfs) rs377767324
NM_005359.5(SMAD4):c.375T>C (p.Ser125=) rs863224401
NM_005359.5(SMAD4):c.375_381dup (p.Val128Cysfs) rs377767325
NM_005359.5(SMAD4):c.380G>A (p.Cys127Tyr) rs1555685182
NM_005359.5(SMAD4):c.38A>G (p.Asn13Ser) rs281875323
NM_005359.5(SMAD4):c.390A>G (p.Pro130=) rs755862230
NM_005359.5(SMAD4):c.394C>T (p.His132Tyr) rs1060500743
NM_005359.5(SMAD4):c.399C>T (p.Tyr133=) rs779069779
NM_005359.5(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.5(SMAD4):c.411A>G (p.Val137=) rs201296880
NM_005359.5(SMAD4):c.424+1G>A rs377767386
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005359.5(SMAD4):c.424+6T>C rs771456293
NM_005359.5(SMAD4):c.425-6A>G rs377767327
NM_005359.5(SMAD4):c.425-8C>T rs1555685237
NM_005359.5(SMAD4):c.427C>T (p.Leu143Phe) rs1568203595
NM_005359.5(SMAD4):c.430_431delTC (p.Ser144Argfs) rs377767328
NM_005359.5(SMAD4):c.437T>A (p.Leu146Ter) rs377767329
NM_005359.5(SMAD4):c.443delT (p.Leu148Argfs)
NM_005359.5(SMAD4):c.449G>A (p.Ser150Asn) rs750355699
NM_005359.5(SMAD4):c.454+2T>C rs1555685248
NM_005359.5(SMAD4):c.454+8A>T rs864622099
NM_005359.5(SMAD4):c.455-6A>G rs181178864
NM_005359.5(SMAD4):c.460T>G (p.Ser154Ala) rs864622209
NM_005359.5(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.5(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005359.5(SMAD4):c.464G>A (p.Ser155Asn) rs199790852
NM_005359.5(SMAD4):c.466A>T (p.Met156Leu) rs534355764
NM_005359.5(SMAD4):c.469_471delATG (p.Met157del) rs786201939
NM_005359.5(SMAD4):c.471G>A (p.Met157Ile) rs780716382
NM_005359.5(SMAD4):c.472G>T (p.Val158Leu) rs1555685628
NM_005359.5(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005359.5(SMAD4):c.47G>C (p.Cys16Ser) rs1555684993
NM_005359.5(SMAD4):c.486T>C (p.Tyr162=) rs1057523970
NM_005359.5(SMAD4):c.491A>G (p.His164Arg) rs876660058
NM_005359.5(SMAD4):c.49C>T (p.Leu17=) rs1555684997
NM_005359.5(SMAD4):c.512C>T (p.Ser171Leu) rs1568205010
NM_005359.5(SMAD4):c.516_527del (p.Ser173_Gly176del) rs377767330
NM_005359.5(SMAD4):c.521C>A (p.Thr174Asn) rs138800446
NM_005359.5(SMAD4):c.525A>G (p.Glu175=) rs368528856
NM_005359.5(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.5(SMAD4):c.535A>G (p.Ile179Val) rs542392980
NM_005359.5(SMAD4):c.535A>T (p.Ile179Phe) rs542392980
NM_005359.5(SMAD4):c.538C>T (p.Gln180Ter) rs377767332
NM_005359.5(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.5(SMAD4):c.554C>T (p.Pro185Leu) rs770798845
NM_005359.5(SMAD4):c.556C>G (p.Pro186Ala) rs1555685648
NM_005359.5(SMAD4):c.560G>A (p.Ser187Asn) rs927620013
NM_005359.5(SMAD4):c.565C>A (p.Arg189Ser) rs140743238
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.5(SMAD4):c.566G>A (p.Arg189His) rs759288477
NM_005359.5(SMAD4):c.573G>A (p.Ser191=) rs761936246
NM_005359.5(SMAD4):c.575C>T (p.Thr192Ile) rs587780792
NM_005359.5(SMAD4):c.580A>G (p.Thr194Ala) rs1432058632
NM_005359.5(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.5(SMAD4):c.585C>G (p.Tyr195Ter) rs1316902116
NM_005359.5(SMAD4):c.586A>G (p.Ser196Gly) rs946539148
NM_005359.5(SMAD4):c.593C>G (p.Pro198Arg) rs1189715258
NM_005359.5(SMAD4):c.606C>G (p.Ala202=) rs780665234
NM_005359.5(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.5(SMAD4):c.608delC (p.Pro203Hisfs) rs377767333
NM_005359.5(SMAD4):c.615G>A (p.Glu205=) rs1555685667
NM_005359.5(SMAD4):c.615G>T (p.Glu205Asp) rs1555685667
NM_005359.5(SMAD4):c.621T>C (p.Asn207=) rs1452122852
NM_005359.5(SMAD4):c.625A>G (p.Thr209Ala) rs1555685670
NM_005359.5(SMAD4):c.627C>T (p.Thr209=) rs905151346
NM_005359.5(SMAD4):c.628A>G (p.Ser210Gly) rs1568205087
NM_005359.5(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.5(SMAD4):c.634G>A (p.Ala212Thr) rs863224732
NM_005359.5(SMAD4):c.638A>G (p.Asn213Ser) rs757977781
NM_005359.5(SMAD4):c.639C>T (p.Asn213=) rs878854767
NM_005359.5(SMAD4):c.641T>A (p.Phe214Tyr) rs1060500736
NM_005359.5(SMAD4):c.643C>T (p.Pro215Ser) rs1064793270
NM_005359.5(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005359.5(SMAD4):c.651T>A (p.Ile217=) rs997151197
NM_005359.5(SMAD4):c.651T>G (p.Ile217Met) rs997151197
NM_005359.5(SMAD4):c.661T>A (p.Ser221Thr) rs1568205115
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.667+6T>C rs1060500745
NM_005359.5(SMAD4):c.667+9T>C rs776523203
NM_005359.5(SMAD4):c.667A>G (p.Ser223Gly) rs1568205121
NM_005359.5(SMAD4):c.668-3T>C rs1568206021
NM_005359.5(SMAD4):c.668-6C>G rs748992694
NM_005359.5(SMAD4):c.668-7C>T rs1060504028
NM_005359.5(SMAD4):c.668-?_1659+?del
NM_005359.5(SMAD4):c.668G>T (p.Ser223Ile) rs774334251
NM_005359.5(SMAD4):c.671A>T (p.Gln224Leu) rs587780793
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.5(SMAD4):c.684A>C (p.Ile228=) rs1555685906
NM_005359.5(SMAD4):c.688G>C (p.Gly230Arg) rs1568206043
NM_005359.5(SMAD4):c.692G>C (p.Gly231Ala) rs759679579
NM_005359.5(SMAD4):c.692dupG (p.Ser232Glnfs) rs377767334
NM_005359.5(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005359.5(SMAD4):c.698A>G (p.His233Arg) rs1555685910
NM_005359.5(SMAD4):c.69delG (p.Met24Cysfs)
NM_005359.5(SMAD4):c.705A>G (p.Glu235=) rs1555685912
NM_005359.5(SMAD4):c.707G>A (p.Gly236Glu) rs1568206062
NM_005359.5(SMAD4):c.70A>G (p.Met24Val) rs876659391
NM_005359.5(SMAD4):c.728_735delGGCCTCAG (p.Gly243Alafs) rs1060500742
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.5(SMAD4):c.736C>A (p.Pro246Thr) rs876659967
NM_005359.5(SMAD4):c.743A>T (p.Gln248Leu) rs751985298
NM_005359.5(SMAD4):c.745C>G (p.Gln249Glu) rs1370953444
NM_005359.5(SMAD4):c.746_747delAGinsCC (p.Gln249Pro) rs587782209
NM_005359.5(SMAD4):c.750G>A (p.Gln250=) rs1555685922
NM_005359.5(SMAD4):c.755G>T (p.Gly252Val) rs878854768
NM_005359.5(SMAD4):c.760A>G (p.Thr254Ala) rs1284924848
NM_005359.5(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.5(SMAD4):c.787+7A>G rs779803439
NM_005359.5(SMAD4):c.787A>G (p.Asn263Asp) rs1568206105
NM_005359.5(SMAD4):c.788-3T>C rs1555685949
NM_005359.5(SMAD4):c.788-9A>C rs775484792
NM_005359.5(SMAD4):c.788-?_1659+?del
NM_005359.5(SMAD4):c.789C>T (p.Asn263=) rs763510526
NM_005359.5(SMAD4):c.792C>T (p.Ser264=) rs1555685951
NM_005359.5(SMAD4):c.812G>A (p.Ser271Asn) rs1343555503
NM_005359.5(SMAD4):c.816G>A (p.Arg272=) rs1231028123
NM_005359.5(SMAD4):c.825A>G (p.Pro275=) rs762166596
NM_005359.5(SMAD4):c.831_832delAC (p.Pro278Terfs) rs377767336
NM_005359.5(SMAD4):c.842C>T (p.Pro281Leu) rs1568206174
NM_005359.5(SMAD4):c.845A>C (p.His282Pro) rs1555685962
NM_005359.5(SMAD4):c.84A>G (p.Gln28=) rs778465458
NM_005359.5(SMAD4):c.852A>G (p.Gln284=) rs144378484
NM_005359.5(SMAD4):c.856G>A (p.Gly286Ser) rs750111831
NM_005359.5(SMAD4):c.870C>T (p.His290=) rs1060504029
NM_005359.5(SMAD4):c.871C>T (p.His291Tyr) rs863224733
NM_005359.5(SMAD4):c.875C>T (p.Pro292Leu) rs786201404
NM_005359.5(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.5(SMAD4):c.884C>T (p.Pro295Leu) rs370176106
NM_005359.5(SMAD4):c.885G>A (p.Pro295=) rs772028872
NM_005359.5(SMAD4):c.888C>G (p.Pro296=) rs1060504026
NM_005359.5(SMAD4):c.890A>G (p.His297Arg) rs1060500737
NM_005359.5(SMAD4):c.899A>G (p.His300Arg) rs1060500731
NM_005359.5(SMAD4):c.8A>G (p.Asn3Ser)
NM_005359.5(SMAD4):c.904+14T>C rs200973136
NM_005359.5(SMAD4):c.904+7T>G rs1207550894
NM_005359.5(SMAD4):c.904T>C (p.Trp302Arg) rs1555685979
NM_005359.5(SMAD4):c.905-32T=
NM_005359.5(SMAD4):c.905-3T>C
NM_005359.5(SMAD4):c.905-52A>G rs948589
NM_005359.5(SMAD4):c.906G>A (p.Trp302Ter) rs878854769
NM_005359.5(SMAD4):c.909T>C (p.Pro303=) rs141149381
NM_005359.5(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.5(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.5(SMAD4):c.917A>G (p.Asn306Ser) rs730881953
NM_005359.5(SMAD4):c.918T>G (p.Asn306Lys) rs1555686075
NM_005359.5(SMAD4):c.924T>C (p.Leu308=) rs864622414
NM_005359.5(SMAD4):c.925_928dupGCAT (p.Phe310Cysfs) rs377767338
NM_005359.5(SMAD4):c.927A>G (p.Ala309=) rs369088915
NM_005359.5(SMAD4):c.935C>G (p.Pro312Arg) rs1555686082
NM_005359.5(SMAD4):c.939C>T (p.Pro313=) rs1305282354
NM_005359.5(SMAD4):c.939dup (p.Ile314Hisfs) rs1568206602
NM_005359.5(SMAD4):c.940A>G (p.Ile314Val) rs748622028
NM_005359.5(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.5(SMAD4):c.954T>C (p.Pro318=) rs773615487
NM_005359.5(SMAD4):c.955+1delG rs1555686086
NM_005359.5(SMAD4):c.955+7G>A rs200386455
NM_005359.5(SMAD4):c.956-3T>C rs748283001
NM_005359.5(SMAD4):c.956-4A>G rs1295343500
NM_005359.5(SMAD4):c.956-7C>T rs778959035
NM_005359.5(SMAD4):c.966T>C (p.Tyr322=) rs1465916558
NM_005359.5(SMAD4):c.969G>T (p.Trp323Cys)
NM_005359.5(SMAD4):c.970T>C (p.Cys324Arg) rs377767339
NM_005359.5(SMAD4):c.971delG (p.Cys324Phefs) rs377767340
NM_005359.5(SMAD4):c.982_983insT (p.Tyr328Leufs) rs377767341
NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005359.5(SMAD4):c.9T>C (p.Asn3=) rs762273127
NM_005359.5:c.1018A>G
NM_005359.5:c.1063_1064insGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTATTGATTG
NM_005359.5:c.1148T>G
NM_005359.5:c.1194G>A
NM_005359.5:c.119T>C
NM_005359.5:c.1213C>T
NM_005359.5:c.1249_1250delGA
NM_005359.5:c.1321C>T
NM_005359.5:c.1322G>A
NM_005359.5:c.1342C>G
NM_005359.5:c.1352C>A
NM_005359.5:c.1352C>T
NM_005359.5:c.1363C>T
NM_005359.5:c.1588C>A
NM_005359.5:c.1604_1605delTCinsAA
NM_005359.5:c.196G>A
NM_005359.5:c.203C>T
NM_005359.5:c.247C>T
NM_005359.5:c.267A>T
NM_005359.5:c.399C>A
NM_005359.5:c.3G>C
NM_005359.5:c.422T>C
NM_005359.5:c.451A>G
NM_005359.5:c.457C>T
NM_005359.5:c.478G>A
NM_005359.5:c.546C>G
NM_005359.5:c.629G>A
NM_005359.5:c.652C>A
NM_005359.5:c.686T>G
NM_005359.5:c.691G>C
NM_005359.5:c.731C>T
NM_005359.5:c.775A>G
NM_005359.5:c.923T>C
NM_005359.5:c.997G>A
NM_005359.6(SMAD4):c.1067dup (p.Ser357Phefs)
SMAD4, 1-BP INS
SMAD4, 2-BP DEL
SMAD4, 2-BP DEL, 959AC
SMAD4, 4-BP DEL, NT1372
Single allele

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