NM_005902.4(SMAD3):c.*2547C>T
|
rs72661161
|
0.00096
|
NM_005902.4(SMAD3):c.*1315C>T
|
rs886051391
|
0.00070
|
NM_005902.4(SMAD3):c.*1583T>G
|
rs577631492
|
0.00058
|
NM_005902.4(SMAD3):c.*2028T>C
|
rs549152312
|
0.00041
|
NM_005902.4(SMAD3):c.*2046T>C
|
rs761162475
|
0.00028
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_005902.4(SMAD3):c.-244G>A
|
rs886051374
|
0.00022
|
NM_005902.4(SMAD3):c.533-585G>T
|
rs762320351
|
0.00022
|
NM_005902.4(SMAD3):c.*2786T>A
|
rs775905689
|
0.00020
|
NM_005902.4(SMAD3):c.-265T>G
|
rs886051373
|
0.00017
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
NM_005902.4(SMAD3):c.*2285G>A
|
rs62014609
|
0.00013
|
NM_005902.4(SMAD3):c.*2403C>T
|
rs755985886
|
0.00013
|
NM_005902.4(SMAD3):c.777C>T (p.Gly259=)
|
rs145414319
|
0.00013
|
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=)
|
rs753875974
|
0.00010
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_005902.4(SMAD3):c.*250C>A
|
rs754034578
|
0.00006
|
NM_005902.4(SMAD3):c.207-26869C>A
|
rs958007552
|
0.00006
|
NM_005902.4(SMAD3):c.*626C>T
|
rs886051385
|
0.00005
|
NM_005902.4(SMAD3):c.401-7C>T
|
rs774268232
|
0.00005
|
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
NM_005902.4(SMAD3):c.607+9T>A
|
rs886051380
|
0.00005
|
NM_005902.4(SMAD3):c.*1316G>A
|
rs996604810
|
0.00004
|
NM_005902.4(SMAD3):c.*789A>G
|
rs191679355
|
0.00004
|
NM_005902.4(SMAD3):c.*805G>A
|
rs770764038
|
0.00004
|
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val)
|
rs191612061
|
0.00004
|
NM_005902.4(SMAD3):c.872-12G>C
|
rs768529580
|
0.00004
|
NM_005902.4(SMAD3):c.879C>T (p.Gly293=)
|
rs769683236
|
0.00004
|
NM_005902.4(SMAD3):c.*2573G>A
|
rs886051418
|
0.00003
|
NM_005902.4(SMAD3):c.*552G>C
|
rs769408016
|
0.00003
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val)
|
rs370394986
|
0.00003
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)
|
rs1206533102
|
0.00003
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
NM_005902.4(SMAD3):c.533-13_533-10del
|
rs752716057
|
0.00003
|
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu)
|
rs772510704
|
0.00003
|
NM_005902.4(SMAD3):c.981C>G (p.His327Gln)
|
rs780274581
|
0.00003
|
NM_005902.4(SMAD3):c.*1561A>T
|
rs1275046716
|
0.00002
|
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val)
|
rs779602560
|
0.00002
|
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr)
|
rs770798158
|
0.00002
|
NM_005902.4(SMAD3):c.400+5G>T
|
rs766829176
|
0.00002
|
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg)
|
rs755924969
|
0.00002
|
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile)
|
rs773543026
|
0.00002
|
NM_005902.4(SMAD3):c.968G>A (p.Arg323His)
|
rs758586312
|
0.00002
|
NM_005902.4(SMAD3):c.*1159A>G
|
rs1002378365
|
0.00001
|
NM_005902.4(SMAD3):c.*1455G>C
|
rs1479158835
|
0.00001
|
NM_005902.4(SMAD3):c.*1819C>T
|
rs886051406
|
0.00001
|
NM_005902.4(SMAD3):c.*4C>T
|
rs1252748287
|
0.00001
|
NM_005902.4(SMAD3):c.*6del
|
rs772778568
|
0.00001
|
NM_005902.4(SMAD3):c.*804C>T
|
rs1217099486
|
0.00001
|
NM_005902.4(SMAD3):c.*925G>A
|
rs886051389
|
0.00001
|
NM_005902.4(SMAD3):c.1009+5A>C
|
rs772995932
|
0.00001
|
NM_005902.4(SMAD3):c.1009+6C>T
|
rs749052145
|
0.00001
|
NM_005902.4(SMAD3):c.1010-10T>C
|
rs1179340088
|
0.00001
|
NM_005902.4(SMAD3):c.1010-12T>C
|
rs773629535
|
0.00001
|
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=)
|
rs767649515
|
0.00001
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp)
|
rs745387614
|
0.00001
|
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala)
|
rs1242358787
|
0.00001
|
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn)
|
rs1555405116
|
0.00001
|
NM_005902.4(SMAD3):c.207-3C>A
|
rs757772685
|
0.00001
|
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
NM_005902.4(SMAD3):c.239G>A (p.Arg80Gln)
|
rs758823376
|
0.00001
|
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)
|
rs1085307496
|
0.00001
|
NM_005902.4(SMAD3):c.303C>T (p.His101=)
|
rs762889441
|
0.00001
|
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)
|
rs369221296
|
0.00001
|
NM_005902.4(SMAD3):c.355G>A (p.Glu119Lys)
|
rs1165259401
|
0.00001
|
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln)
|
rs750982529
|
0.00001
|
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala)
|
rs863223767
|
0.00001
|
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys)
|
rs1253901433
|
0.00001
|
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln)
|
rs375574124
|
0.00001
|
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr)
|
rs548756379
|
0.00001
|
NM_005902.4(SMAD3):c.532+8C>T
|
rs370879516
|
0.00001
|
NM_005902.4(SMAD3):c.567A>C (p.Gly189=)
|
rs1313114326
|
0.00001
|
NM_005902.4(SMAD3):c.575G>C (p.Ser192Thr)
|
rs1264997614
|
0.00001
|
NM_005902.4(SMAD3):c.597C>T (p.Ser199=)
|
rs769225687
|
0.00001
|
NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr)
|
rs760091844
|
0.00001
|
NM_005902.4(SMAD3):c.607+5G>T
|
rs772419612
|
0.00001
|
NM_005902.4(SMAD3):c.607G>A (p.Gly203Ser)
|
rs1416583276
|
0.00001
|
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser)
|
rs150682850
|
0.00001
|
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr)
|
rs1962721856
|
0.00001
|
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe)
|
rs886038567
|
0.00001
|
NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn)
|
rs1201995588
|
0.00001
|
NM_005902.4(SMAD3):c.797C>T (p.Ser266Leu)
|
rs753486471
|
0.00001
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
NM_005902.4(SMAD3):c.883C>T (p.Arg295Trp)
|
rs1399970718
|
0.00001
|
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr)
|
rs1348033858
|
0.00001
|
NM_005902.4(SMAD3):c.964C>A (p.Gln322Lys)
|
rs1963178887
|
0.00001
|
NM_005902.4(SMAD3):c.991G>A (p.Val331Ile)
|
rs1320208623
|
0.00001
|
GRCh37/hg19 15q22.31-22.33(chr15:67151901-67423565)x3
|
|
|
NC_000015.10:g.(?_67184717)_(67190546_?)dup
|
|
|
NC_000015.9:g.(?_67358483)_(67358708_?)dup
|
|
|
NC_000015.9:g.(?_67358483)_(67482884_?)dup
|
|
|
NC_000015.9:g.(?_67358493)_(67358718_?)dup
|
|
|
NC_000015.9:g.(?_67473569)_(67482884_?)dup
|
|
|
NM_005902.4(SMAD3):c.*1326A>G
|
rs886051392
|
|
NM_005902.4(SMAD3):c.*1355C>G
|
rs886051393
|
|
NM_005902.4(SMAD3):c.*1443C>A
|
rs886051394
|
|
NM_005902.4(SMAD3):c.*1493C>A
|
rs886051395
|
|
NM_005902.4(SMAD3):c.*1515C>A
|
rs886051396
|
|
NM_005902.4(SMAD3):c.*1548G>T
|
rs886051397
|
|
NM_005902.4(SMAD3):c.*1597G>C
|
rs886051398
|
|
NM_005902.4(SMAD3):c.*1614C>A
|
rs886051399
|
|
NM_005902.4(SMAD3):c.*1641T>G
|
rs886051400
|
|
NM_005902.4(SMAD3):c.*1644T>G
|
rs886051401
|
|
NM_005902.4(SMAD3):c.*1695G>T
|
rs886051402
|
|
NM_005902.4(SMAD3):c.*1749G>T
|
rs886051403
|
|
NM_005902.4(SMAD3):c.*1767G>C
|
rs533635017
|
|
NM_005902.4(SMAD3):c.*1784G>T
|
rs886051404
|
|
NM_005902.4(SMAD3):c.*1790G>A
|
rs530788405
|
|
NM_005902.4(SMAD3):c.*1800_*1803del
|
rs141408841
|
|
NM_005902.4(SMAD3):c.*1820G>T
|
rs886051407
|
|
NM_005902.4(SMAD3):c.*1831G>T
|
rs886051408
|
|
NM_005902.4(SMAD3):c.*1853C>A
|
rs886051409
|
|
NM_005902.4(SMAD3):c.*1915G>A
|
rs961459942
|
|
NM_005902.4(SMAD3):c.*195G>T
|
rs886051381
|
|
NM_005902.4(SMAD3):c.*2026T>C
|
rs886051410
|
|
NM_005902.4(SMAD3):c.*2038G>T
|
rs886051411
|
|
NM_005902.4(SMAD3):c.*2245C>A
|
rs886051412
|
|
NM_005902.4(SMAD3):c.*2251C>A
|
rs886051413
|
|
NM_005902.4(SMAD3):c.*2291C>A
|
rs886051414
|
|
NM_005902.4(SMAD3):c.*2303G>C
|
rs886051415
|
|
NM_005902.4(SMAD3):c.*2453C>A
|
rs886051416
|
|
NM_005902.4(SMAD3):c.*2476A>C
|
rs886051417
|
|
NM_005902.4(SMAD3):c.*2573G>T
|
rs886051418
|
|
NM_005902.4(SMAD3):c.*2580C>A
|
rs886051419
|
|
NM_005902.4(SMAD3):c.*2596G>T
|
rs886051420
|
|
NM_005902.4(SMAD3):c.*2891C>A
|
rs886051421
|
|
NM_005902.4(SMAD3):c.*292G>T
|
rs886051382
|
|
NM_005902.4(SMAD3):c.*2963A>C
|
rs886051422
|
|
NM_005902.4(SMAD3):c.*304C>T
|
rs565932125
|
|
NM_005902.4(SMAD3):c.*30C>T
|
rs201206131
|
|
NM_005902.4(SMAD3):c.*3120G>T
|
rs886051423
|
|
NM_005902.4(SMAD3):c.*3147G>T
|
rs886051425
|
|
NM_005902.4(SMAD3):c.*3148T>C
|
rs886051426
|
|
NM_005902.4(SMAD3):c.*3174del
|
rs886051427
|
|
NM_005902.4(SMAD3):c.*3174dup
|
rs886051427
|
|
NM_005902.4(SMAD3):c.*3661G>A
|
rs886051430
|
|
NM_005902.4(SMAD3):c.*3738C>T
|
rs886051432
|
|
NM_005902.4(SMAD3):c.*4195G>A
|
rs886051433
|
|
NM_005902.4(SMAD3):c.*4556C>A
|
rs886051435
|
|
NM_005902.4(SMAD3):c.*4556C>T
|
rs886051435
|
|
NM_005902.4(SMAD3):c.*495C>A
|
rs886051383
|
|
NM_005902.4(SMAD3):c.*552G>T
|
rs769408016
|
|
NM_005902.4(SMAD3):c.*573G>T
|
rs886051384
|
|
NM_005902.4(SMAD3):c.*594C>T
|
rs1963353753
|
|
NM_005902.4(SMAD3):c.*632C>A
|
rs886051386
|
|
NM_005902.4(SMAD3):c.*656C>A
|
rs886051387
|
|
NM_005902.4(SMAD3):c.*678C>A
|
rs886051388
|
|
NM_005902.4(SMAD3):c.*937T>C
|
rs1272484755
|
|
NM_005902.4(SMAD3):c.*981C>A
|
rs886051390
|
|
NM_005902.4(SMAD3):c.-139C>G
|
rs1595881947
|
|
NM_005902.4(SMAD3):c.-164A>C
|
rs886051378
|
|
NM_005902.4(SMAD3):c.-168C>A
|
rs886051377
|
|
NM_005902.4(SMAD3):c.-217C>T
|
rs886051376
|
|
NM_005902.4(SMAD3):c.-240G>T
|
rs886051375
|
|
NM_005902.4(SMAD3):c.-280C>A
|
rs886051372
|
|
NM_005902.4(SMAD3):c.1001T>A (p.Ile334Asn)
|
|
|
NM_005902.4(SMAD3):c.1006C>G (p.Pro336Ala)
|
|
|
NM_005902.4(SMAD3):c.1009G>C (p.Gly337Arg)
|
|
|
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr)
|
rs2140188906
|
|
NM_005902.4(SMAD3):c.1019T>C (p.Leu340Pro)
|
rs2140323401
|
|
NM_005902.4(SMAD3):c.101C>A (p.Ala34Glu)
|
|
|
NM_005902.4(SMAD3):c.1029C>G (p.Phe343Leu)
|
rs2140323430
|
|
NM_005902.4(SMAD3):c.1033A>C (p.Asn345His)
|
rs2140323442
|
|
NM_005902.4(SMAD3):c.1033A>T (p.Asn345Tyr)
|
|
|
NM_005902.4(SMAD3):c.1035C>G (p.Asn345Lys)
|
rs1304126587
|
|
NM_005902.4(SMAD3):c.1044C>G (p.Phe348Leu)
|
|
|
NM_005902.4(SMAD3):c.1045G>A (p.Ala349Thr)
|
rs1963249175
|
|
NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)
|
|
|
NM_005902.4(SMAD3):c.1062G>T (p.Gln354His)
|
rs1567003470
|
|
NM_005902.4(SMAD3):c.1064C>T (p.Ser355Leu)
|
rs752776110
|
|
NM_005902.4(SMAD3):c.1065G>T (p.Ser355=)
|
rs756181827
|
|
NM_005902.4(SMAD3):c.1080T>G (p.Phe360Leu)
|
rs2140323584
|
|
NM_005902.4(SMAD3):c.1081G>A (p.Glu361Lys)
|
rs387906856
|
|
NM_005902.4(SMAD3):c.1081G>C (p.Glu361Gln)
|
rs387906856
|
|
NM_005902.4(SMAD3):c.1084G>C (p.Ala362Pro)
|
|
|
NM_005902.4(SMAD3):c.1087G>A (p.Val363Ile)
|
|
|
NM_005902.4(SMAD3):c.1088T>C (p.Val363Ala)
|
|
|
NM_005902.4(SMAD3):c.1088T>G (p.Val363Gly)
|
rs1595962693
|
|
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)
|
rs886039177
|
|
NM_005902.4(SMAD3):c.1099A>C (p.Thr367Pro)
|
|
|
NM_005902.4(SMAD3):c.109A>T (p.Ser37Cys)
|
|
|
NM_005902.4(SMAD3):c.1102C>G (p.Arg368Gly)
|
rs757106110
|
|
NM_005902.4(SMAD3):c.1103G>A (p.Arg368Gln)
|
|
|
NM_005902.4(SMAD3):c.1106T>A (p.Met369Lys)
|
rs1294653592
|
|
NM_005902.4(SMAD3):c.110G>T (p.Ser37Ile)
|
rs1555405107
|
|
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle)
|
rs863223769
|
|
NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del)
|
rs863223755
|
|
NM_005902.4(SMAD3):c.1112C>A (p.Thr371Asn)
|
rs1963251370
|
|
NM_005902.4(SMAD3):c.1117C>A (p.Arg373Ser)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1118G>T (p.Arg373Leu)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys)
|
rs1555414240
|
|
NM_005902.4(SMAD3):c.1124G>A (p.Ser375Asn)
|
rs1232656160
|
|
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
|
|
|
NM_005902.4(SMAD3):c.1132A>G (p.Lys378Glu)
|
rs2140323743
|
|
NM_005902.4(SMAD3):c.1135G>A (p.Gly379Ser)
|
|
|
NM_005902.4(SMAD3):c.1136G>T (p.Gly379Val)
|
rs1963252361
|
|
NM_005902.4(SMAD3):c.1137C>T (p.Gly379=)
|
|
|
NM_005902.4(SMAD3):c.1138T>G (p.Trp380Gly)
|
rs1963252441
|
|
NM_005902.4(SMAD3):c.1141G>A (p.Gly381Arg)
|
|
|
NM_005902.4(SMAD3):c.1142G>T (p.Gly381Val)
|
rs1963252519
|
|
NM_005902.4(SMAD3):c.1144G>A (p.Ala382Thr)
|
|
|
NM_005902.4(SMAD3):c.1150T>C (p.Tyr384His)
|
rs2140323802
|
|
NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys)
|
rs2140323808
|
|
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)
|
rs886038836
|
|
NM_005902.4(SMAD3):c.1154+3C>G
|
|
|
NM_005902.4(SMAD3):c.1154+3C>T
|
|
|
NM_005902.4(SMAD3):c.1154+4A>G
|
rs1963253277
|
|
NM_005902.4(SMAD3):c.1155-1G>A
|
rs1963331116
|
|
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr)
|
rs1567005489
|
|
NM_005902.4(SMAD3):c.115G>C (p.Val39Leu)
|
rs2140188954
|
|
NM_005902.4(SMAD3):c.1165G>A (p.Val389Met)
|
rs863223747
|
|
NM_005902.4(SMAD3):c.1175C>A (p.Thr392Asn)
|
rs1555414486
|
|
NM_005902.4(SMAD3):c.1177C>G (p.Pro393Ala)
|
rs2140327731
|
|
NM_005902.4(SMAD3):c.1178C>G (p.Pro393Arg)
|
|
|
NM_005902.4(SMAD3):c.1178C>T (p.Pro393Leu)
|
|
|
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
|
|
|
NM_005902.4(SMAD3):c.1180T>G (p.Cys394Gly)
|
rs2140327744
|
|
NM_005902.4(SMAD3):c.1183T>A (p.Trp395Arg)
|
|
|
NM_005902.4(SMAD3):c.1185G>T (p.Trp395Cys)
|
|
|
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.1187T>C (p.Ile396Thr)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.1190A>G (p.Glu397Gly)
|
rs1060500765
|
|
NM_005902.4(SMAD3):c.1190A>T (p.Glu397Val)
|
rs1060500765
|
|
NM_005902.4(SMAD3):c.1195C>T (p.His399Tyr)
|
rs1233301604
|
|
NM_005902.4(SMAD3):c.119A>G (p.Lys40Arg)
|
rs2140188975
|
|
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser)
|
rs1555414491
|
|
NM_005902.4(SMAD3):c.1221T>G (p.Leu407=)
|
|
|
NM_005902.4(SMAD3):c.1222G>C (p.Asp408His)
|
rs201263330
|
|
NM_005902.4(SMAD3):c.1228G>T (p.Val410Phe)
|
rs863223748
|
|
NM_005902.4(SMAD3):c.1228_1229insATGGCCTTTGCAGTGCCA (p.Val410delinsAspGlyLeuCysSerAlaIle)
|
rs1963333453
|
|
NM_005902.4(SMAD3):c.1230C>A (p.Val410=)
|
|
|
NM_005902.4(SMAD3):c.1231C>T (p.Leu411Phe)
|
|
|
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg)
|
rs886038961
|
|
NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu)
|
rs1963334413
|
|
NM_005902.4(SMAD3):c.1252A>G (p.Ser418Gly)
|
|
|
NM_005902.4(SMAD3):c.1259G>A (p.Arg420His)
|
rs762012589
|
|
NM_005902.4(SMAD3):c.1262G>A (p.Cys421Tyr)
|
|
|
NM_005902.4(SMAD3):c.1265C>A (p.Ser422Tyr)
|
rs1567005581
|
|
NM_005902.4(SMAD3):c.1265C>G (p.Ser422Cys)
|
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
NM_005902.4(SMAD3):c.1269T>A (p.Ser423Arg)
|
rs1060500772
|
|
NM_005902.4(SMAD3):c.1277A>T (p.Ter426Leu)
|
rs1555414505
|
|
NM_005902.4(SMAD3):c.1278G>C (p.Ter426Tyr)
|
rs1555414506
|
|
NM_005902.4(SMAD3):c.137G>A (p.Gly46Glu)
|
|
|
NM_005902.4(SMAD3):c.145G>C (p.Asp49His)
|
|
|
NM_005902.4(SMAD3):c.145G>T (p.Asp49Tyr)
|
rs1959914506
|
|
NM_005902.4(SMAD3):c.148G>A (p.Glu50Lys)
|
rs863223751
|
|
NM_005902.4(SMAD3):c.152T>C (p.Leu51Pro)
|
|
|
NM_005902.4(SMAD3):c.152T>G (p.Leu51Arg)
|
rs1595882150
|
|
NM_005902.4(SMAD3):c.157A>G (p.Lys53Glu)
|
rs2140189069
|
|
NM_005902.4(SMAD3):c.160G>A (p.Ala54Thr)
|
rs2140189075
|
|
NM_005902.4(SMAD3):c.161C>G (p.Ala54Gly)
|
|
|
NM_005902.4(SMAD3):c.163A>T (p.Ile55Phe)
|
|
|
NM_005902.4(SMAD3):c.163_177del (p.Ile55_Asn59del)
|
rs1595882160
|
|
NM_005902.4(SMAD3):c.167C>G (p.Thr56Ser)
|
|
|
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro)
|
rs730880213
|
|
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys)
|
rs1959915488
|
|
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
|
|
|
NM_005902.4(SMAD3):c.182A>C (p.Asn61Thr)
|
|
|
NM_005902.4(SMAD3):c.185C>T (p.Thr62Ile)
|
rs1959916186
|
|
NM_005902.4(SMAD3):c.190T>C (p.Cys64Arg)
|
rs1060500768
|
|
NM_005902.4(SMAD3):c.191G>A (p.Cys64Tyr)
|
|
|
NM_005902.4(SMAD3):c.193A>T (p.Ile65Phe)
|
|
|
NM_005902.4(SMAD3):c.194T>A (p.Ile65Asn)
|
|
|
NM_005902.4(SMAD3):c.194T>C (p.Ile65Thr)
|
rs1555405117
|
|
NM_005902.4(SMAD3):c.199A>G (p.Ile67Val)
|
|
|
NM_005902.4(SMAD3):c.203C>T (p.Pro68Leu)
|
|
|
NM_005902.4(SMAD3):c.205A>G (p.Arg69Gly)
|
rs1959916737
|
|
NM_005902.4(SMAD3):c.206+2T>G
|
rs2140189216
|
|
NM_005902.4(SMAD3):c.206+3G>T
|
rs1265081565
|
|
NM_005902.4(SMAD3):c.206+4G>A
|
|
|
NM_005902.4(SMAD3):c.206+5G>A
|
rs1959917032
|
|
NM_005902.4(SMAD3):c.206G>A (p.Arg69Lys)
|
rs1959916789
|
|
NM_005902.4(SMAD3):c.207-26797del
|
rs1291138310
|
|
NM_005902.4(SMAD3):c.207-26806G>T
|
|
|
NM_005902.4(SMAD3):c.207-26834G>A
|
|
|
NM_005902.4(SMAD3):c.207-26843C>T
|
|
|
NM_005902.4(SMAD3):c.207-26846A>C
|
|
|
NM_005902.4(SMAD3):c.207-6_207-5insA
|
|
|
NM_005902.4(SMAD3):c.212T>C (p.Leu71Pro)
|
rs1262859970
|
|
NM_005902.4(SMAD3):c.214G>C (p.Asp72His)
|
|
|
NM_005902.4(SMAD3):c.215A>G (p.Asp72Gly)
|
|
|
NM_005902.4(SMAD3):c.217G>A (p.Gly73Ser)
|
rs1595941556
|
|
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln)
|
rs1566991387
|
|
NM_005902.4(SMAD3):c.228G>T (p.Gln76His)
|
rs886041046
|
|
NM_005902.4(SMAD3):c.229G>A (p.Val77Met)
|
|
|
NM_005902.4(SMAD3):c.229G>T (p.Val77Leu)
|
|
|
NM_005902.4(SMAD3):c.236A>G (p.His79Arg)
|
|
|
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp)
|
rs750707381
|
|
NM_005902.4(SMAD3):c.239G>C (p.Arg80Pro)
|
rs758823376
|
|
NM_005902.4(SMAD3):c.242A>T (p.Lys81Met)
|
|
|
NM_005902.4(SMAD3):c.243G>T (p.Lys81Asn)
|
rs1555412065
|
|
NM_005902.4(SMAD3):c.244G>A (p.Gly82Arg)
|
rs1566991421
|
|
NM_005902.4(SMAD3):c.253C>T (p.His85Tyr)
|
|
|
NM_005902.4(SMAD3):c.260T>C (p.Ile87Thr)
|
rs863223764
|
|
NM_005902.4(SMAD3):c.262T>C (p.Tyr88His)
|
|
|
NM_005902.4(SMAD3):c.263A>G (p.Tyr88Cys)
|
rs1595941635
|
|
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr)
|
rs1962535460
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.269G>C (p.Arg90Pro)
|
|
|
NM_005902.4(SMAD3):c.270_271delinsAA (p.Leu91Met)
|
rs1962535802
|
|
NM_005902.4(SMAD3):c.272T>C (p.Leu91Pro)
|
|
|
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.278G>T (p.Arg93Leu)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu)
|
rs1057518977
|
|
NM_005902.4(SMAD3):c.284C>G (p.Pro95Arg)
|
|
|
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu)
|
rs1962536528
|
|
NM_005902.4(SMAD3):c.290T>C (p.Leu97Pro)
|
rs1595941698
|
|
NM_005902.4(SMAD3):c.292C>T (p.His98Tyr)
|
rs1962536933
|
|
NM_005902.4(SMAD3):c.295A>G (p.Ser99Gly)
|
|
|
NM_005902.4(SMAD3):c.298CAC[1] (p.His101del)
|
|
|
NM_005902.4(SMAD3):c.303C>G (p.His101Gln)
|
|
|
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys)
|
rs1962537574
|
|
NM_005902.4(SMAD3):c.306_308dup (p.Leu103dup)
|
rs1962537774
|
|
NM_005902.4(SMAD3):c.308_309delinsCG (p.Leu103Pro)
|
rs2140294002
|
|
NM_005902.4(SMAD3):c.309_310inv (p.Arg104Trp)
|
|
|
NM_005902.4(SMAD3):c.309_311delinsGCA (p.Arg104Gln)
|
rs2140294017
|
|
NM_005902.4(SMAD3):c.310C>T (p.Arg104Trp)
|
rs1360614387
|
|
NM_005902.4(SMAD3):c.311G>A (p.Arg104Gln)
|
|
|
NM_005902.4(SMAD3):c.313G>C (p.Ala105Pro)
|
|
|
NM_005902.4(SMAD3):c.313G>T (p.Ala105Ser)
|
|
|
NM_005902.4(SMAD3):c.313_314delinsTT (p.Ala105Phe)
|
|
|
NM_005902.4(SMAD3):c.314C>T (p.Ala105Val)
|
|
|
NM_005902.4(SMAD3):c.316A>T (p.Met106Leu)
|
|
|
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr)
|
rs1301737199
|
|
NM_005902.4(SMAD3):c.320A>G (p.Glu107Gly)
|
|
|
NM_005902.4(SMAD3):c.322C>A (p.Leu108Met)
|
rs1595941782
|
|
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg)
|
rs1962538901
|
|
NM_005902.4(SMAD3):c.325T>A (p.Cys109Ser)
|
rs1555412079
|
|
NM_005902.4(SMAD3):c.325T>C (p.Cys109Arg)
|
rs1555412079
|
|
NM_005902.4(SMAD3):c.326G>A (p.Cys109Tyr)
|
rs878854814
|
|
NM_005902.4(SMAD3):c.331T>C (p.Phe111Leu)
|
rs1595941801
|
|
NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)
|
|
|
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)
|
rs387906854
|
|
NM_005902.4(SMAD3):c.340A>G (p.Asn114Asp)
|
rs2140294134
|
|
NM_005902.4(SMAD3):c.343A>G (p.Met115Val)
|
|
|
NM_005902.4(SMAD3):c.345G>A (p.Met115Ile)
|
rs1595941837
|
|
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del)
|
rs2140294164
|
|
NM_005902.4(SMAD3):c.358G>T (p.Val120Phe)
|
|
|
NM_005902.4(SMAD3):c.359T>A (p.Val120Asp)
|
rs1962540440
|
|
NM_005902.4(SMAD3):c.359T>G (p.Val120Gly)
|
rs1962540440
|
|
NM_005902.4(SMAD3):c.364G>T (p.Val122Leu)
|
|
|
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu)
|
rs886039050
|
|
NM_005902.4(SMAD3):c.376C>A (p.His126Asn)
|
|
|
NM_005902.4(SMAD3):c.376C>T (p.His126Tyr)
|
rs886038771
|
|
NM_005902.4(SMAD3):c.377A>G (p.His126Arg)
|
rs863223766
|
|
NM_005902.4(SMAD3):c.379T>A (p.Tyr127Asn)
|
rs1962541191
|
|
NM_005902.4(SMAD3):c.384G>C (p.Gln128His)
|
rs1962541593
|
|
NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg)
|
rs2140294309
|
|
NM_005902.4(SMAD3):c.401-11C>A
|
rs1962548669
|
|
NM_005902.4(SMAD3):c.401-7C>A
|
rs774268232
|
|
NM_005902.4(SMAD3):c.436_447del (p.Ile146_Glu149del)
|
rs1555412124
|
|
NM_005902.4(SMAD3):c.445G>A (p.Glu149Lys)
|
rs1429991069
|
|
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu)
|
rs751860407
|
|
NM_005902.4(SMAD3):c.449T>A (p.Phe150Tyr)
|
|
|
NM_005902.4(SMAD3):c.451C>T (p.Pro151Ser)
|
|
|
NM_005902.4(SMAD3):c.454C>G (p.Pro152Ala)
|
|
|
NM_005902.4(SMAD3):c.463G>A (p.Asp155Asn)
|
|
|
NM_005902.4(SMAD3):c.467A>G (p.Tyr156Cys)
|
rs1397686956
|
|
NM_005902.4(SMAD3):c.46C>G (p.Leu16Val)
|
rs2140188791
|
|
NM_005902.4(SMAD3):c.481C>A (p.Pro161Thr)
|
|
|
NM_005902.4(SMAD3):c.481C>T (p.Pro161Ser)
|
|
|
NM_005902.4(SMAD3):c.490A>G (p.Thr164Ala)
|
|
|
NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser)
|
rs1254152984
|
|
NM_005902.4(SMAD3):c.514C>T (p.Pro172Ser)
|
|
|
NM_005902.4(SMAD3):c.519G>C (p.Gln173His)
|
rs1064796949
|
|
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
|
|
|
NM_005902.4(SMAD3):c.532+3A>G
|
|
|
NM_005902.4(SMAD3):c.532+5G>T
|
rs1962555390
|
|
NM_005902.4(SMAD3):c.533-1G>A
|
rs1350129614
|
|
NM_005902.4(SMAD3):c.533-585G>A
|
rs762320351
|
|
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
|
|
|
NM_005902.4(SMAD3):c.56A>G (p.Lys19Arg)
|
rs1959912294
|
|
NM_005902.4(SMAD3):c.575G>A (p.Ser192Asn)
|
|
|
NM_005902.4(SMAD3):c.57G>T (p.Lys19Asn)
|
|
|
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
|
|
|
NM_005902.4(SMAD3):c.596G>C (p.Ser199Thr)
|
|
|
NM_005902.4(SMAD3):c.596G>T (p.Ser199Ile)
|
rs2140296884
|
|
NM_005902.4(SMAD3):c.598A>G (p.Met200Val)
|
|
|
NM_005902.4(SMAD3):c.601G>T (p.Asp201Tyr)
|
rs1182834384
|
|
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly)
|
rs1416321033
|
|
NM_005902.4(SMAD3):c.603C>G (p.Asp201Glu)
|
|
|
NM_005902.4(SMAD3):c.607+1G>T
|
rs1060500771
|
|
NM_005902.4(SMAD3):c.608G>A (p.Gly203Asp)
|
rs1962720069
|
|
NM_005902.4(SMAD3):c.615_626del (p.Leu207_Asn210del)
|
rs1064796965
|
|
NM_005902.4(SMAD3):c.625C>A (p.Pro209Thr)
|
|
|
NM_005902.4(SMAD3):c.626C>G (p.Pro209Arg)
|
|
|
NM_005902.4(SMAD3):c.626C>T (p.Pro209Leu)
|
rs1209899173
|
|
NM_005902.4(SMAD3):c.631C>G (p.Pro211Ala)
|
|
|
NM_005902.4(SMAD3):c.634A>T (p.Met212Leu)
|
rs1962721215
|
|
NM_005902.4(SMAD3):c.635T>C (p.Met212Thr)
|
|
|
NM_005902.4(SMAD3):c.644C>G (p.Ala215Gly)
|
rs376353913
|
|
NM_005902.4(SMAD3):c.644C>T (p.Ala215Val)
|
rs376353913
|
|
NM_005902.4(SMAD3):c.647A>G (p.His216Arg)
|
|
|
NM_005902.4(SMAD3):c.64G>A (p.Glu22Lys)
|
rs2140188822
|
|
NM_005902.4(SMAD3):c.652A>G (p.Asn218Asp)
|
rs1962722777
|
|
NM_005902.4(SMAD3):c.658+4A>C
|
|
|
NM_005902.4(SMAD3):c.658+5G>A
|
rs1962723153
|
|
NM_005902.4(SMAD3):c.658G>A (p.Asp220Asn)
|
rs2140301204
|
|
NM_005902.4(SMAD3):c.658G>C (p.Asp220His)
|
|
|
NM_005902.4(SMAD3):c.659-12del
|
|
|
NM_005902.4(SMAD3):c.661C>G (p.Leu221Val)
|
rs1566999319
|
|
NM_005902.4(SMAD3):c.676T>C (p.Tyr226His)
|
rs1963044923
|
|
NM_005902.4(SMAD3):c.679T>G (p.Cys227Gly)
|
rs1963045127
|
|
NM_005902.4(SMAD3):c.682G>A (p.Glu228Lys)
|
rs863223735
|
|
NM_005902.4(SMAD3):c.686C>T (p.Pro229Leu)
|
rs1232187684
|
|
NM_005902.4(SMAD3):c.695G>C (p.Trp232Ser)
|
|
|
NM_005902.4(SMAD3):c.696G>C (p.Trp232Cys)
|
rs778356642
|
|
NM_005902.4(SMAD3):c.699C>G (p.Cys233Trp)
|
rs2140313911
|
|
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe)
|
rs2140313919
|
|
NM_005902.4(SMAD3):c.707C>T (p.Ser236Phe)
|
rs1963046088
|
|
NM_005902.4(SMAD3):c.709TAC[1] (p.Tyr238del)
|
rs863223752
|
|
NM_005902.4(SMAD3):c.716_723delinsTT (p.Glu239_Asn241delinsVal)
|
|
|
NM_005902.4(SMAD3):c.719T>A (p.Leu240Gln)
|
|
|
NM_005902.4(SMAD3):c.71A>G (p.Asn24Ser)
|
|
|
NM_005902.4(SMAD3):c.720_743del (p.Asn241_Phe248del)
|
rs1566999378
|
|
NM_005902.4(SMAD3):c.721A>C (p.Asn241His)
|
|
|
NM_005902.4(SMAD3):c.727C>G (p.Arg243Gly)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.728G>A (p.Arg243His)
|
rs863223736
|
|
NM_005902.4(SMAD3):c.728G>C (p.Arg243Pro)
|
rs863223736
|
|
NM_005902.4(SMAD3):c.72C>G (p.Asn24Lys)
|
rs780995229
|
|
NM_005902.4(SMAD3):c.730G>T (p.Val244Phe)
|
rs773543026
|
|
NM_005902.4(SMAD3):c.734G>A (p.Gly245Glu)
|
rs1963047822
|
|
NM_005902.4(SMAD3):c.742T>G (p.Phe248Val)
|
|
|
NM_005902.4(SMAD3):c.744C>A (p.Phe248Leu)
|
|
|
NM_005902.4(SMAD3):c.744C>G (p.Phe248Leu)
|
|
|
NM_005902.4(SMAD3):c.763A>T (p.Met255Leu)
|
|
|
NM_005902.4(SMAD3):c.764T>G (p.Met255Arg)
|
rs886038899
|
|
NM_005902.4(SMAD3):c.769G>A (p.Val257Met)
|
rs1963049659
|
|
NM_005902.4(SMAD3):c.773A>C (p.Asp258Ala)
|
rs1566999483
|
|
NM_005902.4(SMAD3):c.773A>G (p.Asp258Gly)
|
rs1566999483
|
|
NM_005902.4(SMAD3):c.776G>A (p.Gly259Asp)
|
rs1963050062
|
|
NM_005902.4(SMAD3):c.781A>G (p.Thr261Ala)
|
rs1060500764
|
|
NM_005902.4(SMAD3):c.786_800del (p.Asp262_Ser266del)
|
rs863223753
|
|
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser)
|
rs863223739
|
|
NM_005902.4(SMAD3):c.788C>G (p.Pro263Arg)
|
rs387906855
|
|
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)
|
rs387906855
|
|
NM_005902.4(SMAD3):c.790_792dup (p.Ser264dup)
|
rs2140314233
|
|
NM_005902.4(SMAD3):c.79GAG[1] (p.Glu28del)
|
|
|
NM_005902.4(SMAD3):c.805T>C (p.Phe269Leu)
|
rs1595956712
|
|
NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)
|
|
|
NM_005902.4(SMAD3):c.808T>C (p.Cys270Arg)
|
rs2140314294
|
|
NM_005902.4(SMAD3):c.814G>A (p.Gly272Arg)
|
rs1057524127
|
|
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg)
|
rs1057524127
|
|
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
|
|
|
NM_005902.4(SMAD3):c.835A>G (p.Arg279Gly)
|
rs1595956756
|
|
NM_005902.4(SMAD3):c.838A>T (p.Asn280Tyr)
|
rs2140314384
|
|
NM_005902.4(SMAD3):c.839A>G (p.Asn280Ser)
|
rs1433790279
|
|
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val)
|
rs1963053530
|
|
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln)
|
rs886038991
|
|
NM_005902.4(SMAD3):c.854T>C (p.Leu285Pro)
|
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005902.4(SMAD3):c.864_866dup (p.Arg288_His289insGln)
|
|
|
NM_005902.4(SMAD3):c.871+3A>G
|
rs1595956841
|
|
NM_005902.4(SMAD3):c.871+5G>A
|
rs1963055122
|
|
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg)
|
rs730880215
|
|
NM_005902.4(SMAD3):c.871G>C (p.Gly291Arg)
|
|
|
NM_005902.4(SMAD3):c.872-15C>A
|
rs747102986
|
|
NM_005902.4(SMAD3):c.872-6_872-5del
|
rs1963174213
|
|
NM_005902.4(SMAD3):c.880G>A (p.Val294Met)
|
rs863223744
|
|
NM_005902.4(SMAD3):c.881T>C (p.Val294Ala)
|
|
|
NM_005902.4(SMAD3):c.884G>A (p.Arg295Gln)
|
rs772730200
|
|
NM_005902.4(SMAD3):c.884G>T (p.Arg295Leu)
|
rs772730200
|
|
NM_005902.4(SMAD3):c.887T>C (p.Leu296Pro)
|
rs2140319849
|
|
NM_005902.4(SMAD3):c.907G>A (p.Val303Ile)
|
rs1060500767
|
|
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp)
|
rs1555414011
|
|
NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)
|
|
|
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe)
|
rs764656928
|
|
NM_005902.4(SMAD3):c.925A>G (p.Ser309Gly)
|
rs754409301
|
|
NM_005902.4(SMAD3):c.931A>G (p.Ser311Gly)
|
|
|
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr)
|
rs750756638
|
|
NM_005902.4(SMAD3):c.934G>C (p.Ala312Pro)
|
|
|
NM_005902.4(SMAD3):c.937A>G (p.Ile313Val)
|
rs1595960434
|
|
NM_005902.4(SMAD3):c.943G>A (p.Val315Ile)
|
|
|
NM_005902.4(SMAD3):c.943G>T (p.Val315Phe)
|
rs1468779374
|
|
NM_005902.4(SMAD3):c.947A>C (p.Gln316Pro)
|
rs863223745
|
|
NM_005902.4(SMAD3):c.947A>G (p.Gln316Arg)
|
|
|
NM_005902.4(SMAD3):c.955A>G (p.Asn319Asp)
|
rs1595960455
|
|
NM_005902.4(SMAD3):c.956A>G (p.Asn319Ser)
|
rs1057524771
|
|
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys)
|
rs967072552
|
|
NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp)
|
rs1450927153
|
|
NM_005902.4(SMAD3):c.992T>A (p.Val331Asp)
|
rs1555414028
|
|
NM_005902.4(SMAD3):c.994T>C (p.Cys332Arg)
|
|
|
Single allele
|
|
|