NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NC_000018.10:g.(?_51029921)_(51078477_?)del
|
|
|
NC_000018.10:g.(?_51030213)_(51078467_?)del
|
|
|
NC_000018.10:g.(?_51030213)_(51078477_?)del
|
|
|
NC_000018.10:g.(?_51065417)_(51067193_?)del
|
|
|
NC_000018.10:g.(?_51067019)_(51085042_?)del
|
|
|
NC_000018.10:g.(?_51076628)_(51078477_?)del
|
|
|
NC_000018.9:g.(?_48573411)_(48604843_?)del
|
|
|
NC_000018.9:g.(?_48591783)_(48591986_?)del
|
|
|
NC_000018.9:g.(?_48591783)_(48593567_?)del
|
|
|
NC_000018.9:g.(?_48593383)_(48604842_?)del
|
|
|
NC_000018.9:g.(?_48602988)_(48604837_?)del
|
|
|
NC_000018.9:g.(?_48602998)_(48604837_?)del
|
|
|
NC_000018.9:g.(?_48604616)_(48604837_?)del
|
|
|
NM_005359.5(SMAD4):c.(?_-1)_(*1_?)del
|
|
|
NM_005359.5(SMAD4):c.(?_-538)_1139+?del
|
|
|
NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG
|
rs1064793271
|
|
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)
|
rs377767335
|
|
NM_005359.6(SMAD4):c.1010del (p.Glu337fs)
|
|
|
NM_005359.6(SMAD4):c.1017dup (p.Lys340Ter)
|
rs2144446798
|
|
NM_005359.6(SMAD4):c.1019dup (p.Val341fs)
|
|
|
NM_005359.6(SMAD4):c.1023del (p.Pro342fs)
|
rs1555686469
|
|
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter)
|
rs1599195400
|
|
NM_005359.6(SMAD4):c.1037del (p.Pro346fs)
|
rs377767343
|
|
NM_005359.6(SMAD4):c.1042_1043del (p.Val348fs)
|
rs377767344
|
|
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs)
|
rs1599195433
|
|
NM_005359.6(SMAD4):c.1051G>A (p.Asp351Asn)
|
rs1057519739
|
|
NM_005359.6(SMAD4):c.1051G>C (p.Asp351His)
|
rs1057519739
|
|
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val)
|
rs1060500741
|
|
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)
|
rs121912581
|
|
NM_005359.6(SMAD4):c.1058_1061del (p.Tyr353fs)
|
|
|
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter)
|
rs863224400
|
|
NM_005359.6(SMAD4):c.1065C>A (p.Asp355Glu)
|
rs1057519740
|
|
NM_005359.6(SMAD4):c.1067del (p.Pro356fs)
|
rs1599195489
|
|
NM_005359.6(SMAD4):c.1067dup (p.Ser357fs)
|
rs1599195489
|
|
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter)
|
rs121912576
|
|
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser)
|
rs80338963
|
|
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.1096C>T (p.Gln366Ter)
|
rs1060500733
|
|
NM_005359.6(SMAD4):c.1125_1128dup (p.Glu377delinsHisTer)
|
rs2144447925
|
|
NM_005359.6(SMAD4):c.112del (p.Arg38fs)
|
rs2144400967
|
|
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs)
|
rs1555686503
|
|
NM_005359.6(SMAD4):c.1138del (p.Arg380fs)
|
rs1555686506
|
|
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys)
|
rs377767353
|
|
NM_005359.6(SMAD4):c.1140-1G>A
|
rs1555686594
|
|
NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter)
|
rs863224507
|
|
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)
|
rs121912580
|
|
NM_005359.6(SMAD4):c.1158_1159insTG (p.Val387fs)
|
|
|
NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter)
|
rs80338964
|
|
NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer)
|
rs1555686600
|
|
NM_005359.6(SMAD4):c.1176dup (p.Gly393fs)
|
rs2144451929
|
|
NM_005359.6(SMAD4):c.1193G>A (p.Trp398Ter)
|
rs377767357
|
|
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)
|
rs1599196995
|
|
NM_005359.6(SMAD4):c.1198del (p.Arg400fs)
|
rs1060500734
|
|
NM_005359.6(SMAD4):c.1201dup (p.Cys401fs)
|
rs1555686604
|
|
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter)
|
rs878854765
|
|
NM_005359.6(SMAD4):c.121G>T (p.Glu41Ter)
|
|
|
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs)
|
rs1555686608
|
|
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs)
|
rs730881952
|
|
NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs)
|
|
|
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter)
|
rs121912577
|
|
NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter)
|
rs730881954
|
|
NM_005359.6(SMAD4):c.1239C>G (p.Tyr413Ter)
|
rs730881954
|
|
NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer)
|
rs1555686610
|
|
NM_005359.6(SMAD4):c.1239_1242del (p.Tyr412_Tyr413insTer)
|
|
|
NM_005359.6(SMAD4):c.1241del (p.Tyr413_Leu414insTer)
|
rs1910183166
|
|
NM_005359.6(SMAD4):c.1242del (p.Asp415fs)
|
rs377767358
|
|
NM_005359.6(SMAD4):c.1242dup (p.Asp415fs)
|
rs786201200
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.1249_1250del (p.Glu417fs)
|
rs1599197105
|
|
NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs)
|
rs730881956
|
|
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)
|
rs1555686616
|
|
NM_005359.6(SMAD4):c.1278del (p.His427fs)
|
|
|
NM_005359.6(SMAD4):c.1287del (p.Tyr430fs)
|
|
|
NM_005359.6(SMAD4):c.1289dup (p.Tyr430Ter)
|
|
|
NM_005359.6(SMAD4):c.1304_1305dup (p.Lys436Ter)
|
rs1910186100
|
|
NM_005359.6(SMAD4):c.1308+1704_1565del
|
|
|
NM_005359.6(SMAD4):c.1308+1G>A
|
rs587781618
|
|
NM_005359.6(SMAD4):c.1308+2T>C
|
rs1555686624
|
|
NM_005359.6(SMAD4):c.1309-1G>A
|
rs1555687377
|
|
NM_005359.6(SMAD4):c.1311del (p.Phe438fs)
|
rs1599204042
|
|
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.1338_1339del (p.Gln446fs)
|
rs730881957
|
|
NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs)
|
rs1568211187
|
|
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)
|
rs587781359
|
|
NM_005359.6(SMAD4):c.1348C>T (p.Gln450Ter)
|
rs1910478581
|
|
NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs)
|
rs876660720
|
|
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs)
|
rs876660720
|
|
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)
|
rs587780124
|
|
NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs)
|
rs786204125
|
|
NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs)
|
rs377767363
|
|
NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter)
|
rs1599204121
|
|
NM_005359.6(SMAD4):c.1373dup (p.Ala459fs)
|
rs2144474088
|
|
NM_005359.6(SMAD4):c.137_155del (p.Lys46fs)
|
|
|
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter)
|
rs1599204140
|
|
NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs)
|
rs1555687386
|
|
NM_005359.6(SMAD4):c.1409del (p.Pro470fs)
|
rs1555687387
|
|
NM_005359.6(SMAD4):c.1410_1413dup (p.Pro472fs)
|
|
|
NM_005359.6(SMAD4):c.1415dup (p.Gly473fs)
|
rs2144474485
|
|
NM_005359.6(SMAD4):c.1418del (p.Gly473fs)
|
rs1555687388
|
|
NM_005359.6(SMAD4):c.1447+2T>C
|
rs1060500740
|
|
NM_005359.6(SMAD4):c.1470del (p.Ile490fs)
|
|
|
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His)
|
rs121912578
|
|
NM_005359.6(SMAD4):c.1494dup (p.Cys499fs)
|
rs2144478377
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
|
rs281875321
|
|
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)
|
rs281875320
|
|
NM_005359.6(SMAD4):c.1507_1508insATCC (p.Met503fs)
|
|
|
NM_005359.6(SMAD4):c.1515del (p.Phe505fs)
|
rs864622252
|
|
NM_005359.6(SMAD4):c.1523del (p.Gly508fs)
|
rs2144478656
|
|
NM_005359.6(SMAD4):c.1529del (p.Gly510fs)
|
rs1060500744
|
|
NM_005359.6(SMAD4):c.153del (p.Asp52fs)
|
rs786203560
|
|
NM_005359.6(SMAD4):c.153dup (p.Asp52fs)
|
rs786203560
|
|
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter)
|
rs121912579
|
|
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs)
|
rs587783060
|
|
NM_005359.6(SMAD4):c.1548del (p.Ser517fs)
|
rs2144478902
|
|
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs)
|
rs377767373
|
|
NM_005359.6(SMAD4):c.1552dup (p.Ile518fs)
|
|
|
NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter)
|
rs1568211588
|
|
NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs)
|
rs876660150
|
|
NM_005359.6(SMAD4):c.1586T>G (p.Leu529Ter)
|
|
|
NM_005359.6(SMAD4):c.1587dup (p.His530fs)
|
rs377767376
|
|
NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs)
|
rs377767379
|
|
NM_005359.6(SMAD4):c.1600C>T (p.Gln534Ter)
|
rs377767383
|
|
NM_005359.6(SMAD4):c.1609G>T (p.Asp537Tyr)
|
rs1057519741
|
|
NM_005359.6(SMAD4):c.1612_1625del (p.Glu538fs)
|
rs377767385
|
|
NM_005359.6(SMAD4):c.170_173del (p.Ser56_Leu57insTer)
|
|
|
NM_005359.6(SMAD4):c.208_215del (p.Lys70fs)
|
|
|
NM_005359.6(SMAD4):c.217dup (p.Thr73fs)
|
rs1909571836
|
|
NM_005359.6(SMAD4):c.223C>T (p.Gln75Ter)
|
|
|
NM_005359.6(SMAD4):c.223del (p.Gln75fs)
|
rs2144401809
|
|
NM_005359.6(SMAD4):c.237_241dup (p.Arg81fs)
|
rs2144401899
|
|
NM_005359.6(SMAD4):c.23del (p.Asn8fs)
|
rs2144400284
|
|
NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter)
|
rs1599181251
|
|
NM_005359.6(SMAD4):c.250-1G>A
|
rs1555685149
|
|
NM_005359.6(SMAD4):c.263_267del (p.Lys88fs)
|
rs1060500739
|
|
NM_005359.6(SMAD4):c.263_287dup (p.Leu98fs)
|
|
|
NM_005359.6(SMAD4):c.275_276del (p.His92fs)
|
rs1555685156
|
|
NM_005359.6(SMAD4):c.282_283del (p.Tyr95fs)
|
|
|
NM_005359.6(SMAD4):c.296G>A (p.Trp99Ter)
|
rs2144405369
|
|
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter)
|
rs876660079
|
|
NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter)
|
rs1909619442
|
|
NM_005359.6(SMAD4):c.320del (p.Asn107fs)
|
|
|
NM_005359.6(SMAD4):c.321_330dup (p.His111Ter)
|
rs1909619692
|
|
NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer)
|
rs727504151
|
|
NM_005359.6(SMAD4):c.332_333del (p.His111fs)
|
rs2144405621
|
|
NM_005359.6(SMAD4):c.337_343del (p.Lys113fs)
|
|
|
NM_005359.6(SMAD4):c.348_349del (p.Tyr117fs)
|
rs2144405750
|
|
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
|
|
|
NM_005359.6(SMAD4):c.383_384del (p.Val128fs)
|
|
|
NM_005359.6(SMAD4):c.391dup (p.Tyr131fs)
|
|
|
NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter)
|
rs779069779
|
|
NM_005359.6(SMAD4):c.399C>G (p.Tyr133Ter)
|
rs779069779
|
|
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)
|
rs377767326
|
|
NM_005359.6(SMAD4):c.413C>G (p.Ser138Ter)
|
rs1599182571
|
|
NM_005359.6(SMAD4):c.415_416del (p.Pro139fs)
|
rs1599182586
|
|
NM_005359.6(SMAD4):c.424+1G>A
|
rs377767386
|
|
NM_005359.6(SMAD4):c.425-9A>G
|
|
|
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs)
|
rs377767328
|
|
NM_005359.6(SMAD4):c.443del (p.Leu148fs)
|
rs1599182906
|
|
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)
|
rs1555685624
|
|
NM_005359.6(SMAD4):c.472del (p.Met157_Val158insTer)
|
rs2144417880
|
|
NM_005359.6(SMAD4):c.479dup (p.Asp160fs)
|
|
|
NM_005359.6(SMAD4):c.498del (p.Phe166fs)
|
rs1909795937
|
|
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter)
|
rs1449334786
|
|
NM_005359.6(SMAD4):c.513_514del (p.Leu172fs)
|
|
|
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.538C>T (p.Gln180Ter)
|
rs377767332
|
|
NM_005359.6(SMAD4):c.547C>T (p.Gln183Ter)
|
rs1555685645
|
|
NM_005359.6(SMAD4):c.563del (p.Asn188fs)
|
rs2144418764
|
|
NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter)
|
|
|
NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter)
|
rs1316902116
|
|
NM_005359.6(SMAD4):c.620del (p.Asn207fs)
|
rs2144419362
|
|
NM_005359.6(SMAD4):c.633dup (p.Ala212fs)
|
|
|
NM_005359.6(SMAD4):c.667+1G>C
|
|
|
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.69del (p.Met24fs)
|
rs1599181081
|
|
NM_005359.6(SMAD4):c.700dup (p.Ser234fs)
|
|
|
NM_005359.6(SMAD4):c.713_719del (p.Leu237_Leu238insTer)
|
rs2144427004
|
|
NM_005359.6(SMAD4):c.714dup (p.Gln239fs)
|
rs2144427024
|
|
NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter)
|
|
|
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs)
|
rs1060500742
|
|
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)
|
rs2144427253
|
|
NM_005359.6(SMAD4):c.742C>T (p.Gln248Ter)
|
rs2144427357
|
|
NM_005359.6(SMAD4):c.752del (p.Asn251fs)
|
rs1555685925
|
|
NM_005359.6(SMAD4):c.766C>T (p.Gln256Ter)
|
|
|
NM_005359.6(SMAD4):c.778_779dup (p.His261fs)
|
|
|
NM_005359.6(SMAD4):c.779dup (p.Tyr260Ter)
|
rs2144427739
|
|
NM_005359.6(SMAD4):c.794dup (p.Thr266fs)
|
|
|
NM_005359.6(SMAD4):c.803G>A (p.Trp268Ter)
|
|
|
NM_005359.6(SMAD4):c.819dup (p.Ala274fs)
|
|
|
NM_005359.6(SMAD4):c.828C>G (p.Tyr276Ter)
|
rs1909901558
|
|
NM_005359.6(SMAD4):c.831_832del (p.Thr277_Pro278insTer)
|
rs377767336
|
|
NM_005359.6(SMAD4):c.850C>T (p.Gln284Ter)
|
|
|
NM_005359.6(SMAD4):c.860_861insGATA (p.His287fs)
|
|
|
NM_005359.6(SMAD4):c.860dup (p.His287fs)
|
|
|
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
|
|
|
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs)
|
rs869312781
|
|
NM_005359.6(SMAD4):c.894del (p.Gly299fs)
|
rs2144429392
|
|
NM_005359.6(SMAD4):c.895_896del (p.Gly299fs)
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NM_005359.6(SMAD4):c.898_904+1dup
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rs1555685974
|
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NM_005359.6(SMAD4):c.902dup (p.Tyr301Ter)
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rs2144429483
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|
NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter)
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rs746084369
|
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NM_005359.6(SMAD4):c.903del (p.Trp302fs)
|
rs1555685978
|
|
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA
|
rs771084683
|
|
NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter)
|
rs1555686071
|
|
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter)
|
rs878854769
|
|
NM_005359.6(SMAD4):c.915del (p.His305fs)
|
|
|
NM_005359.6(SMAD4):c.917del (p.Asn306fs)
|
|
|
NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter)
|
rs876658694
|
|
NM_005359.6(SMAD4):c.936_939del (p.Pro313fs)
|
|
|
NM_005359.6(SMAD4):c.939dup (p.Ile314fs)
|
rs1568206602
|
|
NM_005359.6(SMAD4):c.968G>A (p.Trp323Ter)
|
rs2144446385
|
|
NM_005359.6(SMAD4):c.969G>A (p.Trp323Ter)
|
|
|
NM_005359.6(SMAD4):c.989A>C (p.Glu330Ala)
|
rs281875324
|
|
NM_005359.6:c.1309_1447del
|
|
|