NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter)
|
rs768713596
|
0.00001
|
NC_000015.10:g.(?_67066145)_(67066370_?)del
|
|
|
NC_000015.10:g.(?_67181221)_(67181473_?)del
|
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NC_000015.10:g.(?_67186987)_(67187509_?)del
|
|
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NC_000015.10:g.(?_67187355)_(67187519_?)del
|
|
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NC_000015.9:g.(?_67358493)_(67457742_?)del
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|
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NC_000015.9:g.(?_67459097)_(67482874_?)del
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|
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NC_000015.9:g.(?_67477045)_(67482874_?)del
|
|
|
NC_000015.9:g.(?_67477100)_(67478916_?)del
|
|
|
NM_005902.4(SMAD3):c.1008del (p.Gly337fs)
|
|
|
NM_005902.4(SMAD3):c.1009G>T (p.Gly337Ter)
|
rs1567002115
|
|
NM_005902.4(SMAD3):c.1010-2A>G
|
|
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NM_005902.4(SMAD3):c.1031_1032insT (p.Asn345fs)
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|
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NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter)
|
rs387906856
|
|
NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs)
|
rs1555414236
|
|
NM_005902.4(SMAD3):c.1087_1090del (p.Val363fs)
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|
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NM_005902.4(SMAD3):c.109del (p.Ser37fs)
|
|
|
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter)
|
rs757106110
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)
|
rs1060500766
|
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NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter)
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|
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NM_005902.4(SMAD3):c.1141G>T (p.Gly381Ter)
|
rs2140323765
|
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NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)
|
rs886038836
|
|
NM_005902.4(SMAD3):c.1153dup (p.Arg385fs)
|
rs1567003613
|
|
NM_005902.4(SMAD3):c.1154+1G>A
|
rs2140323831
|
|
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs)
|
rs1595965925
|
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NM_005902.4(SMAD3):c.1178_1179del (p.Pro393fs)
|
rs1595965945
|
|
NM_005902.4(SMAD3):c.1179dup (p.Cys394fs)
|
rs1595965945
|
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NM_005902.4(SMAD3):c.1217G>A (p.Trp406Ter)
|
rs2140327860
|
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NM_005902.4(SMAD3):c.1246dup (p.Ser416fs)
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|
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NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu)
|
rs1963334413
|
|
NM_005902.4(SMAD3):c.1262_1265dup (p.Ser423fs)
|
rs2140328010
|
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NM_005902.4(SMAD3):c.1266del (p.Ser423fs)
|
rs2140328026
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
NM_005902.4(SMAD3):c.1274C>G (p.Ser425Cys)
|
rs2140328050
|
|
NM_005902.4(SMAD3):c.138del (p.Gln47fs)
|
rs1555405108
|
|
NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter)
|
rs863223762
|
|
NM_005902.4(SMAD3):c.207-10_280delinsA
|
|
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NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln)
|
rs1566991387
|
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NM_005902.4(SMAD3):c.229del (p.Val77fs)
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|
|
NM_005902.4(SMAD3):c.246_247dup (p.Leu83fs)
|
rs1555412070
|
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NM_005902.4(SMAD3):c.246dup (p.Leu83fs)
|
rs1555412069
|
|
NM_005902.4(SMAD3):c.263dup (p.Tyr88Ter)
|
rs863223770
|
|
NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup)
|
rs1595941653
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.271C>T (p.Leu91=)
|
|
|
NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer)
|
rs863223756
|
|
NM_005902.4(SMAD3):c.276G>A (p.Trp92Ter)
|
rs2140293906
|
|
NM_005902.4(SMAD3):c.276G>C (p.Trp92Cys)
|
|
|
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.281G>A (p.Trp94Ter)
|
rs1057518977
|
|
NM_005902.4(SMAD3):c.313del (p.Ala105fs)
|
rs587776882
|
|
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)
|
rs387906854
|
|
NM_005902.4(SMAD3):c.363C>A (p.Cys121Ter)
|
|
|
NM_005902.4(SMAD3):c.364G>A (p.Val122Met)
|
rs587782977
|
|
NM_005902.4(SMAD3):c.381C>A (p.Tyr127Ter)
|
|
|
NM_005902.4(SMAD3):c.382C>T (p.Gln128Ter)
|
rs2140294260
|
|
NM_005902.4(SMAD3):c.401-6G>A
|
rs745672741
|
|
NM_005902.4(SMAD3):c.427_431del (p.His143fs)
|
rs1060500773
|
|
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs)
|
rs2140294805
|
|
NM_005902.4(SMAD3):c.455del (p.Pro152fs)
|
rs863223759
|
|
NM_005902.4(SMAD3):c.483del (p.Glu162fs)
|
rs863223771
|
|
NM_005902.4(SMAD3):c.492dup (p.Asn165Ter)
|
rs863223760
|
|
NM_005902.4(SMAD3):c.517del (p.Gln173fs)
|
rs1595942351
|
|
NM_005902.4(SMAD3):c.539del (p.Pro180fs)
|
rs1555412294
|
|
NM_005902.4(SMAD3):c.545dup (p.Gly183fs)
|
rs1291288543
|
|
NM_005902.4(SMAD3):c.546del (p.Gly183fs)
|
rs1962602493
|
|
NM_005902.4(SMAD3):c.546dup (p.Gly183fs)
|
|
|
NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer)
|
rs1064794789
|
|
NM_005902.4(SMAD3):c.552C>G (p.Tyr184Ter)
|
rs1962602688
|
|
NM_005902.4(SMAD3):c.626del (p.Pro209fs)
|
|
|
NM_005902.4(SMAD3):c.653del (p.Asn218fs)
|
rs587776881
|
|
NM_005902.4(SMAD3):c.65_71dup (p.Asn24fs)
|
rs2140188825
|
|
NM_005902.4(SMAD3):c.668del (p.Pro223fs)
|
rs1595956416
|
|
NM_005902.4(SMAD3):c.695G>A (p.Trp232Ter)
|
|
|
NM_005902.4(SMAD3):c.696G>A (p.Trp232Ter)
|
|
|
NM_005902.4(SMAD3):c.702dup (p.Ile235fs)
|
|
|
NM_005902.4(SMAD3):c.714C>A (p.Tyr238Ter)
|
|
|
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)
|
rs387906853
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg)
|
rs863223737
|
|
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg)
|
rs863223737
|
|
NM_005902.4(SMAD3):c.736del (p.Glu246fs)
|
rs1595956538
|
|
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs)
|
rs587776880
|
|
NM_005902.4(SMAD3):c.745del (p.His249fs)
|
rs2140314073
|
|
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter)
|
rs1566999458
|
|
NM_005902.4(SMAD3):c.769del (p.Val257fs)
|
rs1555413562
|
|
NM_005902.4(SMAD3):c.770_771del (p.Val257fs)
|
|
|
NM_005902.4(SMAD3):c.770_809del (p.Val257fs)
|
|
|
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile)
|
rs387906851
|
|
NM_005902.4(SMAD3):c.783del (p.Asp262fs)
|
|
|
NM_005902.4(SMAD3):c.785A>T (p.Asp262Val)
|
rs2140314210
|
|
NM_005902.4(SMAD3):c.787C>G (p.Pro263Ala)
|
rs863223739
|
|
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)
|
rs387906855
|
|
NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter)
|
rs753486471
|
|
NM_005902.4(SMAD3):c.801_802delinsTT (p.Glu267_Arg268delinsAspCys)
|
rs1555413579
|
|
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)
|
rs794727798
|
|
NM_005902.4(SMAD3):c.803G>A (p.Arg268His)
|
rs863223740
|
|
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)
|
rs863223750
|
|
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)
|
rs387906852
|
|
NM_005902.4(SMAD3):c.851_864del (p.Glu284fs)
|
rs1566999621
|
|
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)
|
rs387906850
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005902.4(SMAD3):c.862_869dup (p.Gly291fs)
|
rs2140314457
|
|
NM_005902.4(SMAD3):c.867_868dup (p.Ile290fs)
|
|
|
NM_005902.4(SMAD3):c.871+1G>A
|
rs1595956832
|
|
NM_005902.4(SMAD3):c.871+2T>C
|
rs863223761
|
|
NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter)
|
rs730880215
|
|
NM_005902.4(SMAD3):c.872G>T (p.Gly291Val)
|
rs1555413991
|
|
NM_005902.4(SMAD3):c.874del (p.Arg292fs)
|
rs1595960347
|
|
NM_005902.4(SMAD3):c.881dup (p.Arg295fs)
|
|
|
NM_005902.4(SMAD3):c.891C>G (p.Tyr297Ter)
|
|
|
NM_005902.4(SMAD3):c.903_904dup (p.Glu302fs)
|
rs1060500770
|
|
NM_005902.4(SMAD3):c.904del (p.Glu302fs)
|
rs1060500770
|
|
NM_005902.4(SMAD3):c.942del (p.Phe314fs)
|
rs863223768
|
|
NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter)
|
rs1595960447
|
|
NM_005902.4(SMAD3):c.960_972delinsGACACC (p.Cys320fs)
|
rs1567002059
|
|
NM_005902.4(SMAD3):c.964C>T (p.Gln322Ter)
|
rs1963178887
|
|
NM_005902.4(SMAD3):c.974dup (p.Trp326fs)
|
|
|
NM_005902.4(SMAD3):c.988del (p.Thr330fs)
|
rs2140320169
|
|
NM_005902.4(SMAD3):c.990dup (p.Val331fs)
|
rs863223754
|
|