ClinVar Miner

List of variants in gene SMAD6 studied for Aortic valve disease 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 603
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.875-22C>A rs2278604 0.23475
NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser) rs368960350 0.00546
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105 0.00542
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=) rs12591946 0.00538
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn) rs188799901 0.00505
NM_005585.5(SMAD6):c.817+9G>C rs200726236 0.00239
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=) rs368834798 0.00154
NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly) rs374058045 0.00142
NM_005585.5(SMAD6):c.336C>A (p.Gly112=) rs371330988 0.00123
NM_005585.5(SMAD6):c.909G>A (p.Thr303=) rs139719094 0.00108
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004 0.00101
NM_005585.5(SMAD6):c.290G>A (p.Gly97Glu) rs566777509 0.00089
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg) rs149949971 0.00065
NM_005585.5(SMAD6):c.447C>T (p.Ala149=) rs181184476 0.00045
NM_005585.5(SMAD6):c.1029G>T (p.Val343=) rs139975027 0.00041
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val) rs145093897 0.00038
NM_005585.5(SMAD6):c.761C>A (p.Ala254Asp) rs529866697 0.00030
NM_005585.5(SMAD6):c.858C>T (p.Asp286=) rs141679164 0.00028
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=) rs371930288 0.00024
NM_005585.5(SMAD6):c.224G>A (p.Arg75Gln) rs373376338 0.00024
NM_005585.5(SMAD6):c.173C>G (p.Ser58Cys) rs756752655 0.00023
NM_005585.5(SMAD6):c.240G>A (p.Ala80=) rs937555039 0.00023
NM_005585.5(SMAD6):c.328C>T (p.Pro110Ser) rs773431944 0.00023
NM_005585.5(SMAD6):c.431C>T (p.Pro144Leu) rs574652189 0.00018
NM_005585.5(SMAD6):c.636C>T (p.Asp212=) rs575612166 0.00017
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr) rs199531653 0.00016
NM_005585.5(SMAD6):c.956C>T (p.Ala319Val) rs148705603 0.00015
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr) rs199822239 0.00015
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg) rs990598927 0.00013
NM_005585.5(SMAD6):c.375C>T (p.Thr125=) rs767379771 0.00013
NM_005585.5(SMAD6):c.253C>T (p.Arg85Cys) rs1056072996 0.00012
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val) rs748622672 0.00012
NM_005585.5(SMAD6):c.75C>T (p.Gly25=) rs755856670 0.00011
NM_005585.5(SMAD6):c.908C>T (p.Thr303Met) rs146363463 0.00011
NM_005585.5(SMAD6):c.91G>A (p.Gly31Ser) rs770362322 0.00011
NM_005585.5(SMAD6):c.141G>A (p.Pro47=) rs1004603974 0.00010
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu) rs781686740 0.00010
NM_005585.5(SMAD6):c.610G>A (p.Gly204Ser) rs746951925 0.00010
NM_005585.5(SMAD6):c.1191C>T (p.Pro397=) rs551875695 0.00009
NM_005585.5(SMAD6):c.405C>T (p.Ala135=) rs538097406 0.00009
NM_005585.5(SMAD6):c.414C>T (p.Pro138=) rs1352636701 0.00009
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser) rs373836386 0.00008
NM_005585.5(SMAD6):c.939G>A (p.Pro313=) rs144403747 0.00008
NM_005585.5(SMAD6):c.439G>A (p.Gly147Arg) rs867644316 0.00007
NM_005585.5(SMAD6):c.687C>T (p.Leu229=) rs531829825 0.00007
NM_005585.5(SMAD6):c.818-11C>T rs766626508 0.00007
NM_005585.5(SMAD6):c.856G>A (p.Asp286Asn) rs759918873 0.00007
NM_005585.5(SMAD6):c.158G>A (p.Gly53Glu) rs955270050 0.00006
NM_005585.5(SMAD6):c.180C>G (p.Val60=) rs981335329 0.00006
NM_005585.5(SMAD6):c.278T>C (p.Met93Thr) rs985309653 0.00006
NM_005585.5(SMAD6):c.648C>G (p.Gly216=) rs1035549645 0.00006
NM_005585.5(SMAD6):c.81C>T (p.Ser27=) rs1167279905 0.00006
NM_005585.5(SMAD6):c.93T>C (p.Gly31=) rs780659575 0.00006
NM_005585.5(SMAD6):c.1137G>A (p.Ser379=) rs1376483272 0.00005
NM_005585.5(SMAD6):c.841C>G (p.Arg281Gly) rs200004068 0.00005
NM_005585.5(SMAD6):c.854G>A (p.Arg285His) rs201098141 0.00005
NM_005585.5(SMAD6):c.1206C>G (p.Ala402=) rs565415984 0.00004
NM_005585.5(SMAD6):c.1276G>A (p.Val426Ile) rs376580255 0.00004
NM_005585.5(SMAD6):c.316G>A (p.Asp106Asn) rs981951560 0.00004
NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln) rs946785791 0.00004
NM_005585.5(SMAD6):c.715G>A (p.Val239Met) rs768794005 0.00004
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala) rs1049275389 0.00004
NM_005585.5(SMAD6):c.853C>T (p.Arg285Cys) rs749741980 0.00004
NM_005585.5(SMAD6):c.855C>T (p.Arg285=) rs774721819 0.00004
NM_005585.5(SMAD6):c.859G>A (p.Glu287Lys) rs570279865 0.00004
NM_005585.5(SMAD6):c.938C>T (p.Pro313Leu) rs748388661 0.00004
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu) rs772926628 0.00003
NM_005585.5(SMAD6):c.1173C>T (p.Ile391=) rs1215677844 0.00003
NM_005585.5(SMAD6):c.134C>G (p.Pro45Arg) rs1027280912 0.00003
NM_005585.5(SMAD6):c.1365C>T (p.Ala455=) rs1351701797 0.00003
NM_005585.5(SMAD6):c.399C>T (p.Asp133=) rs760472203 0.00003
NM_005585.5(SMAD6):c.573G>C (p.Leu191=) rs778199794 0.00003
NM_005585.5(SMAD6):c.643C>T (p.Leu215=) rs1416518211 0.00003
NM_005585.5(SMAD6):c.698C>T (p.Pro233Leu) rs764453720 0.00003
NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser) rs781458675 0.00003
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn) rs773308777 0.00002
NM_005585.5(SMAD6):c.1348C>T (p.Pro450Ser) rs369864879 0.00002
NM_005585.5(SMAD6):c.135G>A (p.Pro45=) rs868172579 0.00002
NM_005585.5(SMAD6):c.1445C>G (p.Thr482Ser) rs1239470869 0.00002
NM_005585.5(SMAD6):c.1489T>C (p.Ter497Gln) rs932383465 0.00002
NM_005585.5(SMAD6):c.235G>T (p.Gly79Cys) rs1318237027 0.00002
NM_005585.5(SMAD6):c.245G>A (p.Arg82Lys) rs1433506461 0.00002
NM_005585.5(SMAD6):c.257C>T (p.Ala86Val) rs1235267213 0.00002
NM_005585.5(SMAD6):c.618G>A (p.Val206=) rs776635009 0.00002
NM_005585.5(SMAD6):c.80G>A (p.Ser27Asn) rs1448725205 0.00002
NM_005585.5(SMAD6):c.816C>G (p.Pro272=) rs748073570 0.00002
NM_005585.5(SMAD6):c.817+17G>A rs770785932 0.00002
NM_005585.5(SMAD6):c.833C>T (p.Pro278Leu) rs372082813 0.00002
NM_005585.5(SMAD6):c.967C>T (p.Pro323Ser) rs1292983568 0.00002
NM_005585.5(SMAD6):c.1006T>C (p.Tyr336His) rs1894552779 0.00001
NM_005585.5(SMAD6):c.1022C>T (p.Thr341Met) rs151259317 0.00001
NM_005585.5(SMAD6):c.1057G>A (p.Ala353Thr) rs1315294969 0.00001
NM_005585.5(SMAD6):c.1080A>T (p.Leu360=) rs773981348 0.00001
NM_005585.5(SMAD6):c.1146A>C (p.Arg382=) rs755122573 0.00001
NM_005585.5(SMAD6):c.1161C>T (p.Ile387=) rs777669717 0.00001
NM_005585.5(SMAD6):c.1194C>T (p.Asp398=) rs777092566 0.00001
NM_005585.5(SMAD6):c.1215C>G (p.Arg405=) rs899021608 0.00001
NM_005585.5(SMAD6):c.1224C>G (p.His408Gln) rs1381118550 0.00001
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser) rs757027884 0.00001
NM_005585.5(SMAD6):c.1257G>A (p.Ala419=) rs771448780 0.00001
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val) rs371348775 0.00001
NM_005585.5(SMAD6):c.1294C>G (p.Pro432Ala) rs758115595 0.00001
NM_005585.5(SMAD6):c.1346C>T (p.Ala449Val) rs1186486223 0.00001
NM_005585.5(SMAD6):c.1347G>T (p.Ala449=) rs764124420 0.00001
NM_005585.5(SMAD6):c.1377C>G (p.Tyr459Ter) rs1290060451 0.00001
NM_005585.5(SMAD6):c.1393C>T (p.Arg465Cys) rs761888345 0.00001
NM_005585.5(SMAD6):c.1401C>T (p.Ser467=) rs1303185082 0.00001
NM_005585.5(SMAD6):c.192C>T (p.Ala64=) rs1242699041 0.00001
NM_005585.5(SMAD6):c.202C>T (p.Pro68Ser) rs1235974469 0.00001
NM_005585.5(SMAD6):c.25C>T (p.Leu9=) rs1055162146 0.00001
NM_005585.5(SMAD6):c.267C>T (p.Pro89=) rs896888252 0.00001
NM_005585.5(SMAD6):c.279G>A (p.Met93Ile) rs1595756752 0.00001
NM_005585.5(SMAD6):c.286C>T (p.Pro96Ser) rs1299231742 0.00001
NM_005585.5(SMAD6):c.299C>T (p.Ala100Val) rs1893029511 0.00001
NM_005585.5(SMAD6):c.34C>T (p.Arg12Ter) rs1241989233 0.00001
NM_005585.5(SMAD6):c.351C>T (p.Pro117=) rs770962715 0.00001
NM_005585.5(SMAD6):c.374C>T (p.Thr125Ile) rs759468399 0.00001
NM_005585.5(SMAD6):c.384C>T (p.Leu128=) rs752593472 0.00001
NM_005585.5(SMAD6):c.388T>C (p.Ser130Pro) rs1893032616 0.00001
NM_005585.5(SMAD6):c.411G>C (p.Ala137=) rs1555434217 0.00001
NM_005585.5(SMAD6):c.434T>C (p.Leu145Pro) rs1011931265 0.00001
NM_005585.5(SMAD6):c.469C>T (p.Arg157Trp) rs1239750015 0.00001
NM_005585.5(SMAD6):c.472A>G (p.Ser158Gly) rs1327929414 0.00001
NM_005585.5(SMAD6):c.477C>G (p.Arg159=) rs1278854033 0.00001
NM_005585.5(SMAD6):c.484C>T (p.Arg162Cys) rs1337307419 0.00001
NM_005585.5(SMAD6):c.502C>T (p.Leu168=) rs1465389619 0.00001
NM_005585.5(SMAD6):c.528G>C (p.Thr176=) rs1315861259 0.00001
NM_005585.5(SMAD6):c.53T>G (p.Val18Gly) rs1221430921 0.00001
NM_005585.5(SMAD6):c.598G>A (p.Gly200Ser) rs1039327779 0.00001
NM_005585.5(SMAD6):c.606G>A (p.Pro202=) rs892811980 0.00001
NM_005585.5(SMAD6):c.642C>G (p.Arg214=) rs1392322147 0.00001
NM_005585.5(SMAD6):c.667C>T (p.Gln223Ter) rs1064793003 0.00001
NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter) rs759094719 0.00001
NM_005585.5(SMAD6):c.728C>T (p.Pro243Leu) rs946670694 0.00001
NM_005585.5(SMAD6):c.72A>G (p.Glu24=) rs922540858 0.00001
NM_005585.5(SMAD6):c.730C>T (p.Leu244=) rs1042398681 0.00001
NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro) rs1457962668 0.00001
NM_005585.5(SMAD6):c.765C>T (p.Asp255=) rs1375800482 0.00001
NM_005585.5(SMAD6):c.768C>G (p.Gly256=) rs770427556 0.00001
NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser) rs868114319 0.00001
NM_005585.5(SMAD6):c.851C>T (p.Pro284Leu) rs150101601 0.00001
NM_005585.5(SMAD6):c.872T>C (p.Leu291Pro) rs768096418 0.00001
NM_005585.5(SMAD6):c.874+8T>C rs780559917 0.00001
NM_005585.5(SMAD6):c.875-10C>T rs1006453758 0.00001
NM_005585.5(SMAD6):c.882C>T (p.Ser294=) rs769894803 0.00001
NM_005585.5(SMAD6):c.883G>A (p.Asp295Asn) rs773338089 0.00001
NM_005585.5(SMAD6):c.887C>T (p.Ser296Phe) rs200374822 0.00001
NM_005585.5(SMAD6):c.891A>G (p.Thr297=) rs759799681 0.00001
NM_005585.5(SMAD6):c.8G>A (p.Arg3Lys) rs1337502697 0.00001
NM_005585.5(SMAD6):c.921C>A (p.Asn307Lys) rs191287350 0.00001
NM_005585.5(SMAD6):c.952+8T>C rs749303894 0.00001
NM_005585.5(SMAD6):c.1005G>A (p.Ala335=)
NM_005585.5(SMAD6):c.1009T>A (p.Trp337Arg)
NM_005585.5(SMAD6):c.1014G>C (p.Glu338Asp) rs2140681200
NM_005585.5(SMAD6):c.1014G>T (p.Glu338Asp)
NM_005585.5(SMAD6):c.1016A>T (p.His339Leu)
NM_005585.5(SMAD6):c.1021A>G (p.Thr341Ala)
NM_005585.5(SMAD6):c.1025G>A (p.Arg342His)
NM_005585.5(SMAD6):c.102C>T (p.Asp34=) rs1197212804
NM_005585.5(SMAD6):c.1031G>T (p.Gly344Val) rs2140681275
NM_005585.5(SMAD6):c.1040del (p.Tyr347fs) rs1894554603
NM_005585.5(SMAD6):c.1041_1042del (p.Ala348fs) rs1894554671
NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)
NM_005585.5(SMAD6):c.104A>G (p.Glu35Gly)
NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter) rs200493039
NM_005585.5(SMAD6):c.1050C>T (p.Tyr350=)
NM_005585.5(SMAD6):c.1051dup (p.Asp351fs)
NM_005585.5(SMAD6):c.1053C>T (p.Asp351=) rs1166776083
NM_005585.5(SMAD6):c.1054C>A (p.Gln352Lys)
NM_005585.5(SMAD6):c.1055_1056insAT (p.Ala353fs) rs2140681355
NM_005585.5(SMAD6):c.1059C>T (p.Ala353=)
NM_005585.5(SMAD6):c.1066A>G (p.Ile356Val)
NM_005585.5(SMAD6):c.1068C>T (p.Ile356=)
NM_005585.5(SMAD6):c.106G>T (p.Asp36Tyr) rs773308777
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His) rs1595804836
NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val)
NM_005585.5(SMAD6):c.107A>C (p.Asp36Ala)
NM_005585.5(SMAD6):c.107A>G (p.Asp36Gly) rs763029325
NM_005585.5(SMAD6):c.107_128dup (p.Glu44fs)
NM_005585.5(SMAD6):c.1090del (p.Ser364fs) rs2140681457
NM_005585.5(SMAD6):c.1093G>T (p.Gly365Cys) rs1176080464
NM_005585.5(SMAD6):c.1101C>T (p.Cys367=)
NM_005585.5(SMAD6):c.1102C>G (p.Leu368Val) rs1555440081
NM_005585.5(SMAD6):c.1103T>C (p.Leu368Pro)
NM_005585.5(SMAD6):c.1105G>A (p.Gly369Ser) rs1294873185
NM_005585.5(SMAD6):c.1118T>C (p.Leu373Pro) rs947145210
NM_005585.5(SMAD6):c.1119G>C (p.Leu373=)
NM_005585.5(SMAD6):c.1125G>A (p.Gln375=)
NM_005585.5(SMAD6):c.1127G>A (p.Arg376His)
NM_005585.5(SMAD6):c.1132G>A (p.Glu378Lys)
NM_005585.5(SMAD6):c.1141C>G (p.Arg381Gly)
NM_005585.5(SMAD6):c.1144C>T (p.Arg382Ter)
NM_005585.5(SMAD6):c.114C>G (p.Ser38Arg)
NM_005585.5(SMAD6):c.1154G>A (p.Ser385Asn) rs1555440093
NM_005585.5(SMAD6):c.1157A>G (p.Lys386Arg)
NM_005585.5(SMAD6):c.1158G>T (p.Lys386Asn)
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup) rs1595804976
NM_005585.5(SMAD6):c.1169G>T (p.Gly390Val)
NM_005585.5(SMAD6):c.1172T>A (p.Ile391Asn)
NM_005585.5(SMAD6):c.1175T>C (p.Leu392Pro) rs1265396527
NM_005585.5(SMAD6):c.1178T>C (p.Leu393Pro)
NM_005585.5(SMAD6):c.1182C>G (p.Ser394Arg) rs2140681716
NM_005585.5(SMAD6):c.1183A>T (p.Lys395Ter)
NM_005585.5(SMAD6):c.1195G>T (p.Gly399Cys)
NM_005585.5(SMAD6):c.1198G>C (p.Val400Leu)
NM_005585.5(SMAD6):c.1198G>T (p.Val400Leu)
NM_005585.5(SMAD6):c.1199T>A (p.Val400Glu) rs2140681753
NM_005585.5(SMAD6):c.1200_1391del (p.Trp401_Val464del)
NM_005585.5(SMAD6):c.120C>A (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.120C>T (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.1210A>G (p.Asn404Asp)
NM_005585.5(SMAD6):c.1211A>G (p.Asn404Ser)
NM_005585.5(SMAD6):c.1216G>A (p.Gly406Ser)
NM_005585.5(SMAD6):c.1216G>T (p.Gly406Cys) rs539298543
NM_005585.5(SMAD6):c.1236C>T (p.Val412=)
NM_005585.5(SMAD6):c.1242C>G (p.Ser414=) rs1469006490
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.1245G>A (p.Pro415=)
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) rs1447391811
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr) rs900897541
NM_005585.5(SMAD6):c.125G>A (p.Arg42Gln) rs1270837180
NM_005585.5(SMAD6):c.1261G>A (p.Gly421Ser)
NM_005585.5(SMAD6):c.1263C>T (p.Gly421=)
NM_005585.5(SMAD6):c.1273dup (p.Leu425fs) rs2140682011
NM_005585.5(SMAD6):c.1278C>A (p.Val426=) rs1375981080
NM_005585.5(SMAD6):c.1278C>T (p.Val426=)
NM_005585.5(SMAD6):c.1279G>T (p.Val427Leu)
NM_005585.5(SMAD6):c.127G>C (p.Ala43Pro)
NM_005585.5(SMAD6):c.1294C>T (p.Pro432Ser)
NM_005585.5(SMAD6):c.1295C>A (p.Pro432His)
NM_005585.5(SMAD6):c.1296dup (p.Gly433fs) rs751440011
NM_005585.5(SMAD6):c.1299C>G (p.Gly433=)
NM_005585.5(SMAD6):c.12C>T (p.Ser4=)
NM_005585.5(SMAD6):c.1300T>C (p.Tyr434His)
NM_005585.5(SMAD6):c.1305_1306del (p.Ile436fs)
NM_005585.5(SMAD6):c.1311G>A (p.Lys437=)
NM_005585.5(SMAD6):c.1321T>C (p.Phe441Leu) rs993487814
NM_005585.5(SMAD6):c.1323dup (p.Glu442fs) rs1894568566
NM_005585.5(SMAD6):c.1324G>A (p.Glu442Lys) rs778302338
NM_005585.5(SMAD6):c.1324G>C (p.Glu442Gln)
NM_005585.5(SMAD6):c.1324del (p.Glu442fs)
NM_005585.5(SMAD6):c.1328G>C (p.Arg443Pro) rs554980660
NM_005585.5(SMAD6):c.1347_1348del (p.Pro450fs)
NM_005585.5(SMAD6):c.1348C>A (p.Pro450Thr) rs369864879
NM_005585.5(SMAD6):c.1350C>T (p.Pro450=)
NM_005585.5(SMAD6):c.135G>C (p.Pro45=) rs868172579
NM_005585.5(SMAD6):c.1360G>A (p.Ala454Thr) rs754474911
NM_005585.5(SMAD6):c.1360G>C (p.Ala454Pro)
NM_005585.5(SMAD6):c.1362C>T (p.Ala454=) rs749785381
NM_005585.5(SMAD6):c.1363G>A (p.Ala455Thr)
NM_005585.5(SMAD6):c.1373C>G (p.Pro458Arg) rs746188996
NM_005585.5(SMAD6):c.1375T>A (p.Tyr459Asn)
NM_005585.5(SMAD6):c.1378del (p.Asp460fs)
NM_005585.5(SMAD6):c.137C>T (p.Ala46Val) rs2140580758
NM_005585.5(SMAD6):c.1383dup (p.Asn462fs)
NM_005585.5(SMAD6):c.1389C>T (p.Ser463=)
NM_005585.5(SMAD6):c.1391T>C (p.Val464Ala)
NM_005585.5(SMAD6):c.1395_1404del (p.Ile466fs) rs2140682369
NM_005585.5(SMAD6):c.1396A>C (p.Ile466Leu)
NM_005585.5(SMAD6):c.1403T>C (p.Phe468Ser) rs1182669434
NM_005585.5(SMAD6):c.1405G>C (p.Ala469Pro) rs1416212959
NM_005585.5(SMAD6):c.1408A>C (p.Lys470Gln)
NM_005585.5(SMAD6):c.140C>T (p.Pro47Leu)
NM_005585.5(SMAD6):c.1412_1413delinsT (p.Gly471fs) rs1567116253
NM_005585.5(SMAD6):c.1417G>C (p.Gly473Arg) rs2140682417
NM_005585.5(SMAD6):c.142C>T (p.Arg48Trp)
NM_005585.5(SMAD6):c.1435C>T (p.Gln479Ter)
NM_005585.5(SMAD6):c.1447T>A (p.Ser483Thr) rs1894575580
NM_005585.5(SMAD6):c.1450T>C (p.Cys484Arg) rs1894575710
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) rs387907283
NM_005585.5(SMAD6):c.1453C>T (p.Pro485Ser)
NM_005585.5(SMAD6):c.1465G>A (p.Glu489Lys)
NM_005585.5(SMAD6):c.1465G>T (p.Glu489Ter)
NM_005585.5(SMAD6):c.1479C>T (p.Asn493=)
NM_005585.5(SMAD6):c.1481A>C (p.Asn494Thr)
NM_005585.5(SMAD6):c.1488del (p.Arg496fs) rs2140682691
NM_005585.5(SMAD6):c.1489T>G (p.Ter497Glu)
NM_005585.5(SMAD6):c.148A>T (p.Arg50Ter)
NM_005585.5(SMAD6):c.153G>A (p.Glu51=)
NM_005585.5(SMAD6):c.153G>C (p.Glu51Asp)
NM_005585.5(SMAD6):c.157G>A (p.Gly53Arg) rs1325349483
NM_005585.5(SMAD6):c.161G>C (p.Gly54Ala)
NM_005585.5(SMAD6):c.161G>T (p.Gly54Val)
NM_005585.5(SMAD6):c.168C>T (p.Gly56=)
NM_005585.5(SMAD6):c.169C>A (p.Arg57Ser)
NM_005585.5(SMAD6):c.16C>T (p.Arg6Cys) rs762143900
NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu) rs1595756540
NM_005585.5(SMAD6):c.171C>G (p.Arg57=) rs753456441
NM_005585.5(SMAD6):c.172T>C (p.Ser58Pro)
NM_005585.5(SMAD6):c.178G>A (p.Val60Ile) rs1298929102
NM_005585.5(SMAD6):c.178G>T (p.Val60Phe)
NM_005585.5(SMAD6):c.182G>C (p.Arg61Pro) rs1306731976
NM_005585.5(SMAD6):c.187G>A (p.Val63Ile) rs1595756583
NM_005585.5(SMAD6):c.18C>G (p.Arg6=)
NM_005585.5(SMAD6):c.18_22dup (p.Gly8fs)
NM_005585.5(SMAD6):c.192C>G (p.Ala64=) rs1242699041
NM_005585.5(SMAD6):c.19T>C (p.Ser7Pro) rs1448375284
NM_005585.5(SMAD6):c.1A>G (p.Met1Val)
NM_005585.5(SMAD6):c.201G>A (p.Arg67=) rs2140580891
NM_005585.5(SMAD6):c.204C>T (p.Pro68=)
NM_005585.5(SMAD6):c.208G>A (p.Asp70Asn)
NM_005585.5(SMAD6):c.20C>A (p.Ser7Ter)
NM_005585.5(SMAD6):c.210C>T (p.Asp70=)
NM_005585.5(SMAD6):c.21G>A (p.Ser7=) rs2140580360
NM_005585.5(SMAD6):c.220C>T (p.Gln74Ter) rs1567091382
NM_005585.5(SMAD6):c.222G>C (p.Gln74His)
NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter) rs1595756640
NM_005585.5(SMAD6):c.232_250del (p.Gln78fs) rs965061234
NM_005585.5(SMAD6):c.232_250dup (p.Arg84fs) rs965061234
NM_005585.5(SMAD6):c.239C>T (p.Ala80Val) rs1555434180
NM_005585.5(SMAD6):c.240G>C (p.Ala80=)
NM_005585.5(SMAD6):c.240_264del (p.Gly81fs)
NM_005585.5(SMAD6):c.247C>G (p.Arg83Gly) rs1301285133
NM_005585.5(SMAD6):c.249C>G (p.Arg83=)
NM_005585.5(SMAD6):c.249C>T (p.Arg83=)
NM_005585.5(SMAD6):c.250C>T (p.Arg84Trp)
NM_005585.5(SMAD6):c.259G>C (p.Gly87Arg) rs1422119769
NM_005585.5(SMAD6):c.259G>T (p.Gly87Trp)
NM_005585.5(SMAD6):c.25C>G (p.Leu9Val)
NM_005585.5(SMAD6):c.261G>A (p.Gly87=) rs1595756699
NM_005585.5(SMAD6):c.262G>T (p.Gly88Cys) rs887913905
NM_005585.5(SMAD6):c.263G>T (p.Gly88Val)
NM_005585.5(SMAD6):c.263del (p.Gly88fs) rs1199495614
NM_005585.5(SMAD6):c.263dup (p.Arg91fs) rs1199495614
NM_005585.5(SMAD6):c.264C>A (p.Gly88=)
NM_005585.5(SMAD6):c.264C>G (p.Gly88=) rs547033777
NM_005585.5(SMAD6):c.264C>T (p.Gly88=)
NM_005585.5(SMAD6):c.266C>T (p.Pro89Leu) rs1284707011
NM_005585.5(SMAD6):c.268C>T (p.Pro90Ser)
NM_005585.5(SMAD6):c.269C>G (p.Pro90Arg)
NM_005585.5(SMAD6):c.269C>T (p.Pro90Leu) rs1448623139
NM_005585.5(SMAD6):c.269del (p.Pro90fs) rs1006397889
NM_005585.5(SMAD6):c.269dup (p.Arg91fs) rs1006397889
NM_005585.5(SMAD6):c.26T>C (p.Leu9Pro)
NM_005585.5(SMAD6):c.270G>A (p.Pro90=)
NM_005585.5(SMAD6):c.272G>T (p.Arg91Met)
NM_005585.5(SMAD6):c.277A>C (p.Met93Leu) rs781686740
NM_005585.5(SMAD6):c.281C>T (p.Ser94Leu)
NM_005585.5(SMAD6):c.282G>A (p.Ser94=)
NM_005585.5(SMAD6):c.282G>C (p.Ser94=)
NM_005585.5(SMAD6):c.288A>G (p.Pro96=) rs957321968
NM_005585.5(SMAD6):c.28G>T (p.Val10Leu)
NM_005585.5(SMAD6):c.291G>C (p.Gly97=) rs1454366386
NM_005585.5(SMAD6):c.292G>T (p.Ala98Ser) rs1383502178
NM_005585.5(SMAD6):c.293C>T (p.Ala98Val)
NM_005585.5(SMAD6):c.295G>A (p.Gly99Ser)
NM_005585.5(SMAD6):c.298G>A (p.Ala100Thr) rs946134204
NM_005585.5(SMAD6):c.298G>C (p.Ala100Pro) rs946134204
NM_005585.5(SMAD6):c.29T>G (p.Val10Gly)
NM_005585.5(SMAD6):c.2T>A (p.Met1Lys)
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) rs1409145798
NM_005585.5(SMAD6):c.2T>G (p.Met1Arg) rs1409145798
NM_005585.5(SMAD6):c.301G>A (p.Gly101Arg) rs1433694123
NM_005585.5(SMAD6):c.302G>T (p.Gly101Val)
NM_005585.5(SMAD6):c.303del (p.Ser102fs)
NM_005585.5(SMAD6):c.310C>T (p.Leu104=)
NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly) rs1060500751
NM_005585.5(SMAD6):c.319G>A (p.Val107Met)
NM_005585.5(SMAD6):c.32G>A (p.Arg11Gln)
NM_005585.5(SMAD6):c.338C>T (p.Pro113Leu)
NM_005585.5(SMAD6):c.339G>C (p.Pro113=)
NM_005585.5(SMAD6):c.341dup (p.Trp115fs) rs1893030772
NM_005585.5(SMAD6):c.342C>T (p.Gly114=)
NM_005585.5(SMAD6):c.350C>G (p.Pro117Arg)
NM_005585.5(SMAD6):c.350C>T (p.Pro117Leu)
NM_005585.5(SMAD6):c.352G>A (p.Glu118Lys)
NM_005585.5(SMAD6):c.356G>A (p.Ser119Asn)
NM_005585.5(SMAD6):c.358G>A (p.Asp120Asn)
NM_005585.5(SMAD6):c.358G>C (p.Asp120His) rs1397296874
NM_005585.5(SMAD6):c.363C>G (p.Cys121Trp)
NM_005585.5(SMAD6):c.364G>T (p.Glu122Ter) rs1567091529
NM_005585.5(SMAD6):c.382C>A (p.Leu128Ile) rs1567091533
NM_005585.5(SMAD6):c.382C>T (p.Leu128Phe) rs1567091533
NM_005585.5(SMAD6):c.384_385del (p.Ser130fs)
NM_005585.5(SMAD6):c.387_388del (p.Ser130fs) rs2140581496
NM_005585.5(SMAD6):c.38T>G (p.Leu13Arg) rs1893016936
NM_005585.5(SMAD6):c.390G>C (p.Ser130=)
NM_005585.5(SMAD6):c.395G>T (p.Arg132Leu)
NM_005585.5(SMAD6):c.396G>C (p.Arg132=)
NM_005585.5(SMAD6):c.396G>T (p.Arg132=) rs2140581526
NM_005585.5(SMAD6):c.403_423del (p.Ala135_Ala141del)
NM_005585.5(SMAD6):c.403_423dup (p.Ala141_Ser142insAlaGlyAlaProArgAspAla)
NM_005585.5(SMAD6):c.411G>A (p.Ala137=) rs1555434217
NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu) rs1595756885
NM_005585.5(SMAD6):c.415C>T (p.Arg139Trp)
NM_005585.5(SMAD6):c.418G>A (p.Asp140Asn)
NM_005585.5(SMAD6):c.41G>A (p.Trp14Ter)
NM_005585.5(SMAD6):c.422C>G (p.Ala141Gly)
NM_005585.5(SMAD6):c.425_426delinsTT (p.Ser142Ile)
NM_005585.5(SMAD6):c.428A>T (p.Asp143Val)
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.430C>A (p.Pro144Thr)
NM_005585.5(SMAD6):c.439G>C (p.Gly147Arg)
NM_005585.5(SMAD6):c.439G>T (p.Gly147Trp) rs867644316
NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly) rs766270982
NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)
NM_005585.5(SMAD6):c.446C>T (p.Ala149Val) rs535980291
NM_005585.5(SMAD6):c.447C>G (p.Ala149=)
NM_005585.5(SMAD6):c.455C>T (p.Pro152Leu)
NM_005585.5(SMAD6):c.459G>T (p.Ala153=)
NM_005585.5(SMAD6):c.461dup (p.Gly155fs)
NM_005585.5(SMAD6):c.465C>T (p.Gly155=)
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) rs958818801
NM_005585.5(SMAD6):c.465_471dup (p.Ser158fs) rs958818801
NM_005585.5(SMAD6):c.466G>T (p.Gly156Trp)
NM_005585.5(SMAD6):c.471G>C (p.Arg157=)
NM_005585.5(SMAD6):c.474T>G (p.Ser158Arg)
NM_005585.5(SMAD6):c.475C>G (p.Arg159Gly)
NM_005585.5(SMAD6):c.477_478del (p.Glu160fs)
NM_005585.5(SMAD6):c.481G>T (p.Ala161Ser)
NM_005585.5(SMAD6):c.485G>T (p.Arg162Leu)
NM_005585.5(SMAD6):c.488C>A (p.Ser163Ter)
NM_005585.5(SMAD6):c.488C>T (p.Ser163Leu)
NM_005585.5(SMAD6):c.489G>C (p.Ser163=)
NM_005585.5(SMAD6):c.490C>T (p.Arg164Trp)
NM_005585.5(SMAD6):c.493C>T (p.Leu165=)
NM_005585.5(SMAD6):c.493CTG[3] (p.Leu168del)
NM_005585.5(SMAD6):c.493CTG[5] (p.Leu168_Glu169insLeu)
NM_005585.5(SMAD6):c.494T>G (p.Leu165Arg)
NM_005585.5(SMAD6):c.495G>A (p.Leu165=) rs749500105
NM_005585.5(SMAD6):c.496C>T (p.Leu166=) rs2140581849
NM_005585.5(SMAD6):c.501G>A (p.Leu167=)
NM_005585.5(SMAD6):c.503T>C (p.Leu168Pro)
NM_005585.5(SMAD6):c.505G>T (p.Glu169Ter)
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter) rs1235097131
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter) rs1893037722
NM_005585.5(SMAD6):c.513A>G (p.Glu171=) rs1893037828
NM_005585.5(SMAD6):c.516C>G (p.Leu172=) rs772164418
NM_005585.5(SMAD6):c.516C>T (p.Leu172=)
NM_005585.5(SMAD6):c.519A>T (p.Lys173Asn)
NM_005585.5(SMAD6):c.521C>T (p.Thr174Ile)
NM_005585.5(SMAD6):c.528G>A (p.Thr176=)
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005585.5(SMAD6):c.531C>T (p.Tyr177=) rs760571406
NM_005585.5(SMAD6):c.533C>A (p.Ser178Ter)
NM_005585.5(SMAD6):c.533C>G (p.Ser178Trp)
NM_005585.5(SMAD6):c.533C>T (p.Ser178Leu)
NM_005585.5(SMAD6):c.536T>C (p.Leu179Pro) rs1278620954
NM_005585.5(SMAD6):c.538C>T (p.Leu180=)
NM_005585.5(SMAD6):c.544C>T (p.Arg182Trp)
NM_005585.5(SMAD6):c.550A>C (p.Lys184Gln)
NM_005585.5(SMAD6):c.553G>A (p.Glu185Lys)
NM_005585.5(SMAD6):c.553G>C (p.Glu185Gln) rs1893039406
NM_005585.5(SMAD6):c.553G>T (p.Glu185Ter)
NM_005585.5(SMAD6):c.556C>T (p.Arg186Cys)
NM_005585.5(SMAD6):c.557G>A (p.Arg186His)
NM_005585.5(SMAD6):c.557G>C (p.Arg186Pro)
NM_005585.5(SMAD6):c.558C>T (p.Arg186=)
NM_005585.5(SMAD6):c.559T>C (p.Ser187Pro)
NM_005585.5(SMAD6):c.55G>T (p.Val19Phe)
NM_005585.5(SMAD6):c.561G>A (p.Ser187=)
NM_005585.5(SMAD6):c.561G>C (p.Ser187=)
NM_005585.5(SMAD6):c.562C>T (p.Leu188=)
NM_005585.5(SMAD6):c.569C>A (p.Thr190Lys) rs1893040158
NM_005585.5(SMAD6):c.569C>T (p.Thr190Met) rs1893040158
NM_005585.5(SMAD6):c.573G>T (p.Leu191=) rs778199794
NM_005585.5(SMAD6):c.576G>A (p.Leu192=)
NM_005585.5(SMAD6):c.583G>A (p.Val195Met)
NM_005585.5(SMAD6):c.584_611del (p.Val195fs)
NM_005585.5(SMAD6):c.586G>T (p.Glu196Ter)
NM_005585.5(SMAD6):c.588G>T (p.Glu196Asp) rs1567091749
NM_005585.5(SMAD6):c.590C>T (p.Ser197Phe)
NM_005585.5(SMAD6):c.592C>T (p.Arg198Cys) rs1261743877
NM_005585.5(SMAD6):c.594C>T (p.Arg198=) rs565225133
NM_005585.5(SMAD6):c.595G>C (p.Gly199Arg)
NM_005585.5(SMAD6):c.598_612del (p.Gly200_Gly204del)
NM_005585.5(SMAD6):c.605C>T (p.Pro202Leu)
NM_005585.5(SMAD6):c.609C>G (p.Gly203=)
NM_005585.5(SMAD6):c.611G>T (p.Gly204Val)
NM_005585.5(SMAD6):c.613T>G (p.Cys205Gly)
NM_005585.5(SMAD6):c.613del (p.Cys205fs)
NM_005585.5(SMAD6):c.614_615delinsAA (p.Cys205Ter)
NM_005585.5(SMAD6):c.620T>G (p.Leu207Arg)
NM_005585.5(SMAD6):c.623T>C (p.Val208Ala)
NM_005585.5(SMAD6):c.628C>T (p.Arg210Cys)
NM_005585.5(SMAD6):c.633C>A (p.Ala211=)
NM_005585.5(SMAD6):c.633C>T (p.Ala211=)
NM_005585.5(SMAD6):c.635A>G (p.Asp212Gly)
NM_005585.5(SMAD6):c.637C>G (p.Leu213Val)
NM_005585.5(SMAD6):c.638dup (p.Arg214fs)
NM_005585.5(SMAD6):c.63C>T (p.Asp21=) rs780992085
NM_005585.5(SMAD6):c.641G>A (p.Arg214His)
NM_005585.5(SMAD6):c.642C>T (p.Arg214=)
NM_005585.5(SMAD6):c.649G>T (p.Gly217Cys)
NM_005585.5(SMAD6):c.651C>G (p.Gly217=)
NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter) rs1196005021
NM_005585.5(SMAD6):c.654G>A (p.Gln218=)
NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg) rs1567091826
NM_005585.5(SMAD6):c.667dup (p.Gln223fs) rs2140582321
NM_005585.5(SMAD6):c.672G>C (p.Leu224=)
NM_005585.5(SMAD6):c.680G>A (p.Gly227Asp)
NM_005585.5(SMAD6):c.680_684delinsTCGT (p.Gly227fs) rs1893046284
NM_005585.5(SMAD6):c.681C>T (p.Gly227=)
NM_005585.5(SMAD6):c.682C>G (p.Arg228Gly)
NM_005585.5(SMAD6):c.683G>A (p.Arg228His) rs1439907263
NM_005585.5(SMAD6):c.685C>G (p.Leu229Val)
NM_005585.5(SMAD6):c.691C>A (p.Arg231Ser)
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys) rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) rs1419095990
NM_005585.5(SMAD6):c.702C>T (p.Asp234=) rs779292711
NM_005585.5(SMAD6):c.703C>T (p.Leu235=)
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.714C>A (p.Ala238=) rs746993602
NM_005585.5(SMAD6):c.714C>T (p.Ala238=) rs746993602
NM_005585.5(SMAD6):c.719A>G (p.Glu240Gly) rs2140582546
NM_005585.5(SMAD6):c.71A>G (p.Glu24Gly)
NM_005585.5(SMAD6):c.725A>C (p.Lys242Thr)
NM_005585.5(SMAD6):c.729C>G (p.Pro243=)
NM_005585.5(SMAD6):c.729C>T (p.Pro243=)
NM_005585.5(SMAD6):c.730C>G (p.Leu244Val)
NM_005585.5(SMAD6):c.732G>A (p.Leu244=) rs1180155842
NM_005585.5(SMAD6):c.736_755dup (p.Asp255fs)
NM_005585.5(SMAD6):c.741C>A (p.Cys247Ter)
NM_005585.5(SMAD6):c.741C>G (p.Cys247Trp) rs2140582642
NM_005585.5(SMAD6):c.746G>T (p.Ser249Ile) rs924088670
NM_005585.5(SMAD6):c.747C>G (p.Ser249Arg)
NM_005585.5(SMAD6):c.747C>T (p.Ser249=)
NM_005585.5(SMAD6):c.748_749delinsGC (p.Phe250Ala)
NM_005585.5(SMAD6):c.750C>T (p.Phe250=) rs1164002736
NM_005585.5(SMAD6):c.752CCG[5] (p.Ala254dup) rs774732566
NM_005585.5(SMAD6):c.754G>T (p.Ala252Ser)
NM_005585.5(SMAD6):c.757G>A (p.Ala253Thr) rs1893050180
NM_005585.5(SMAD6):c.764A>C (p.Asp255Ala)
NM_005585.5(SMAD6):c.768C>T (p.Gly256=)
NM_005585.5(SMAD6):c.774C>G (p.Thr258=)
NM_005585.5(SMAD6):c.780C>T (p.Cys260=) rs754314545
NM_005585.5(SMAD6):c.781T>G (p.Cys261Gly) rs2140582832
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile) rs1436851649
NM_005585.5(SMAD6):c.787C>A (p.Pro263Thr)
NM_005585.5(SMAD6):c.787C>T (p.Pro263Ser) rs1382712515
NM_005585.5(SMAD6):c.788C>T (p.Pro263Leu) rs765573567
NM_005585.5(SMAD6):c.789C>T (p.Pro263=)
NM_005585.5(SMAD6):c.791del (p.Tyr264fs)
NM_005585.5(SMAD6):c.793C>T (p.His265Tyr) rs1555434295
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071
NM_005585.5(SMAD6):c.798C>T (p.Phe266=) rs758794528
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) rs769605183
NM_005585.5(SMAD6):c.79_84dup (p.Gly28_Gly29insSerGly)
NM_005585.5(SMAD6):c.800G>C (p.Ser267Thr)
NM_005585.5(SMAD6):c.802C>A (p.Arg268=)
NM_005585.5(SMAD6):c.802C>T (p.Arg268Trp)
NM_005585.5(SMAD6):c.806T>A (p.Leu269His)
NM_005585.5(SMAD6):c.807C>T (p.Leu269=)
NM_005585.5(SMAD6):c.812G>C (p.Gly271Ala)
NM_005585.5(SMAD6):c.814C>G (p.Pro272Ala)
NM_005585.5(SMAD6):c.817+16C>T
NM_005585.5(SMAD6):c.817+17G>C
NM_005585.5(SMAD6):c.817+4A>G
NM_005585.5(SMAD6):c.817G>A (p.Glu273Lys)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter) rs1259557323
NM_005585.5(SMAD6):c.818-17T>C
NM_005585.5(SMAD6):c.818-1G>A
NM_005585.5(SMAD6):c.819A>G (p.Glu273=)
NM_005585.5(SMAD6):c.81CGG[5] (p.Gly33dup) rs936063348
NM_005585.5(SMAD6):c.832C>T (p.Pro278Ser)
NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp) rs200004068
NM_005585.5(SMAD6):c.842G>A (p.Arg281Gln) rs758203577
NM_005585.5(SMAD6):c.84C>T (p.Gly28=)
NM_005585.5(SMAD6):c.857A>G (p.Asp286Gly)
NM_005585.5(SMAD6):c.861G>A (p.Glu287=)
NM_005585.5(SMAD6):c.865A>T (p.Lys289Ter) rs2140596481
NM_005585.5(SMAD6):c.874+15C>T
NM_005585.5(SMAD6):c.874+1G>C
NM_005585.5(SMAD6):c.874+20T>G
NM_005585.5(SMAD6):c.874+4A>C
NM_005585.5(SMAD6):c.874+4A>G
NM_005585.5(SMAD6):c.874+8_874+9del rs2140596524
NM_005585.5(SMAD6):c.874G>A (p.Asp292Asn)
NM_005585.5(SMAD6):c.875-1G>A
NM_005585.5(SMAD6):c.875-1G>C rs768925483
NM_005585.5(SMAD6):c.875-2A>T
NM_005585.5(SMAD6):c.875-9C>G
NM_005585.5(SMAD6):c.877C>T (p.Leu293=)
NM_005585.5(SMAD6):c.888C>T (p.Ser296=)
NM_005585.5(SMAD6):c.892T>C (p.Leu298=)
NM_005585.5(SMAD6):c.896C>G (p.Ser299Cys)
NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala) rs1567091237
NM_005585.5(SMAD6):c.89_103dup (p.Asp34_Glu35insGlyGlyGlyGlyAsp)
NM_005585.5(SMAD6):c.900C>G (p.Tyr300Ter)
NM_005585.5(SMAD6):c.900C>T (p.Tyr300=)
NM_005585.5(SMAD6):c.901A>G (p.Thr301Ala) rs1470199537
NM_005585.5(SMAD6):c.901A>T (p.Thr301Ser) rs1470199537
NM_005585.5(SMAD6):c.916A>G (p.Thr306Ala)
NM_005585.5(SMAD6):c.928A>G (p.Ile310Val)
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del) rs750149627
NM_005585.5(SMAD6):c.93T>A (p.Gly31=) rs780659575
NM_005585.5(SMAD6):c.93_95del (p.Gly33del) rs1046189206
NM_005585.5(SMAD6):c.952+13del rs761315842
NM_005585.5(SMAD6):c.953-17dup rs2140680944
NM_005585.5(SMAD6):c.953-18C>A rs938974070
NM_005585.5(SMAD6):c.953-20T>C rs2140680938
NM_005585.5(SMAD6):c.953-2A>G rs1016515449
NM_005585.5(SMAD6):c.953-2_968del
NM_005585.5(SMAD6):c.954C>T (p.Asp318=)
NM_005585.5(SMAD6):c.95GCG[4] (p.Gly32_Gly33dup) rs758201660
NM_005585.5(SMAD6):c.976A>G (p.Thr326Ala) rs747009304
NM_005585.5(SMAD6):c.97G>A (p.Gly33Ser)
NM_005585.5(SMAD6):c.97G>T (p.Gly33Cys) rs769111756
NM_005585.5(SMAD6):c.983C>T (p.Pro328Leu)
NM_005585.5(SMAD6):c.991_992insCAC (p.Trp331delinsSerArg) rs2140681073
NM_005585.5(SMAD6):c.993G>C (p.Trp331Cys)
NM_005585.5(SMAD6):c.998G>A (p.Ser333Asn)
NM_005585.5(SMAD6):c.99C>T (p.Gly33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.