ClinVar Miner

List of variants studied for aortic valve disease 2 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 871
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.309C>T (p.Leu103=) rs28730763 0.04319
NM_181486.4(TBX5):c.148-19T>A rs80026530 0.01865
NM_181486.4(TBX5):c.1281C>T (p.Ser427=) rs6489957 0.01766
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
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_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile) rs114124210 0.00301
NM_005585.5(SMAD6):c.817+9G>C rs200726236 0.00239
NM_181486.4(TBX5):c.114C>T (p.Ser38=) rs34014008 0.00194
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=) rs368834798 0.00154
NM_181486.4(TBX5):c.804C>G (p.Ala268=) rs35110399 0.00143
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_181486.4(TBX5):c.836G>A (p.Arg279Gln) rs115178276 0.00087
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg) rs149949971 0.00065
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_181486.4(TBX5):c.747A>G (p.Arg249=) rs138552878 0.00051
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
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_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
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_181486.4(TBX5):c.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_181486.4(TBX5):c.865T>G (p.Ser289Ala) rs543015692 0.00030
NM_005585.5(SMAD6):c.858C>T (p.Asp286=) rs141679164 0.00028
NM_181486.4(TBX5):c.948G>A (p.Glu316=) rs767086503 0.00028
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser) rs368311885 0.00025
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_181486.4(TBX5):c.147+13C>A rs201290379 0.00024
NM_181486.4(TBX5):c.318T>C (p.Ile106=) rs141457646 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_181486.4(TBX5):c.600G>T (p.Ala200=) rs139329918 0.00019
NM_181486.4(TBX5):c.68C>A (p.Pro23His) rs141609745 0.00019
NM_005585.5(SMAD6):c.431C>T (p.Pro144Leu) rs574652189 0.00018
NM_181486.4(TBX5):c.510+13G>T rs192482520 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_181486.4(TBX5):c.1381G>A (p.Val461Met) rs201152128 0.00015
NM_181486.4(TBX5):c.834T>C (p.Ser278=) rs142609815 0.00014
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_181486.4(TBX5):c.1151C>T (p.Ala384Val) rs530882236 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_181486.4(TBX5):c.1152G>A (p.Ala384=) rs200073406 0.00009
NM_181486.4(TBX5):c.147+9A>T rs375693592 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_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 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_181486.4(TBX5):c.1116G>A (p.Ser372=) rs763827720 0.00007
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys) rs139371720 0.00007
NM_181486.4(TBX5):c.1545C>T (p.Ser515=) rs186780790 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_181486.4(TBX5):c.1293C>G (p.Thr431=) rs143971376 0.00006
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_181486.4(TBX5):c.204C>T (p.His68=) rs375854421 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 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_181486.4(TBX5):c.1273C>A (p.His425Asn) rs755152246 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 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_181486.4(TBX5):c.1425C>G (p.Gly475=) rs199729532 0.00004
NM_181486.4(TBX5):c.1443C>T (p.Thr481=) rs137928706 0.00004
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) rs556197042 0.00004
NM_181486.4(TBX5):c.15C>T (p.Asp5=) rs767487291 0.00004
NM_181486.4(TBX5):c.576T>C (p.Asn192=) rs201212120 0.00004
NM_181486.4(TBX5):c.639A>G (p.Ala213=) rs149274578 0.00004
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys) rs201071418 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_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.1113G>A (p.Glu371=) rs757158327 0.00003
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp) rs377532269 0.00003
NM_181486.4(TBX5):c.1242C>T (p.Thr414=) rs370133092 0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_181486.4(TBX5):c.242+9G>T rs186666277 0.00003
NM_181486.4(TBX5):c.276G>C (p.Thr92=) rs773971213 0.00003
NM_181486.4(TBX5):c.293C>T (p.Thr98Met) rs772844823 0.00003
NM_181486.4(TBX5):c.363-6A>G rs757819289 0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=) rs567785340 0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) rs201637366 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_181486.4(TBX5):c.1493C>A (p.Ser498Tyr) rs1474068722 0.00002
NM_181486.4(TBX5):c.465C>T (p.Phe155=) rs778977800 0.00002
NM_181486.4(TBX5):c.612C>T (p.His204=) rs200326827 0.00002
NM_181486.4(TBX5):c.669G>A (p.Thr223=) rs376519728 0.00002
NM_181486.4(TBX5):c.965A>G (p.His322Arg) rs759009256 0.00002
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.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.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_181486.4(TBX5):c.1084C>G (p.Gln362Glu) rs765204502 0.00001
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) rs1486871388 0.00001
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met) rs759766836 0.00001
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn) rs773568096 0.00001
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu) rs759976245 0.00001
NM_181486.4(TBX5):c.1289T>C (p.Phe430Ser) rs1396124456 0.00001
NM_181486.4(TBX5):c.1302C>T (p.Pro434=) rs1231034401 0.00001
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln) rs557758851 0.00001
NM_181486.4(TBX5):c.1322G>A (p.Gly441Asp) rs1203543672 0.00001
NM_181486.4(TBX5):c.1343C>T (p.Pro448Leu) rs772790458 0.00001
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val) rs1243477560 0.00001
NM_181486.4(TBX5):c.1380C>T (p.Ser460=) rs575162861 0.00001
NM_181486.4(TBX5):c.1413G>A (p.Gly471=) rs764756835 0.00001
NM_181486.4(TBX5):c.1449G>A (p.Gln483=) rs117965596 0.00001
NM_181486.4(TBX5):c.322C>T (p.Pro108Ser) rs376621016 0.00001
NM_181486.4(TBX5):c.327C>T (p.Ala109=) rs749667596 0.00001
NM_181486.4(TBX5):c.456C>T (p.Leu152=) rs775748269 0.00001
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu) rs1479545982 0.00001
NM_181486.4(TBX5):c.579A>G (p.Gly193=) rs967802452 0.00001
NM_181486.4(TBX5):c.664-14C>T rs751285432 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_181486.4(TBX5):c.729G>T (p.Glu243Asp) rs186183947 0.00001
NM_181486.4(TBX5):c.732G>T (p.Leu244=) rs769541948 0.00001
NM_181486.4(TBX5):c.768C>T (p.Pro256=) rs370805715 0.00001
NM_181486.4(TBX5):c.769G>A (p.Val257Met) rs200382742 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181486.4(TBX5):c.950A>G (p.His317Arg) rs1869524074 0.00001
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114793327)_(114793921_?)del
NC_000012.11:g.(?_114793337)_(114793931_?)dup
NC_000012.11:g.(?_114793337)_(114837457_?)del
NC_000012.11:g.(?_114803950)_(114804216_?)dup
NC_000012.11:g.(?_114803950)_(114823392_?)dup
NC_000012.11:g.(?_114823261)_(114823392_?)del
NC_000012.11:g.(?_114837390)_(114846189_?)del
NC_000012.12:g.(?_114394721)_(114394913_?)del
NC_000012.12:g.(?_114401806)_(114401940_?)del
NC_000012.12:g.(?_114401816)_(114401930_?)del
NC_000015.10:g.(?_66703239)_(67066380_?)del
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.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.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.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.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.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.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.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.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.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.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.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.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.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=)
NM_181486.4(TBX5):c.100dup (p.Ala34fs)
NM_181486.4(TBX5):c.1010C>A (p.Pro337His)
NM_181486.4(TBX5):c.1012del (p.Tyr338fs) rs2136360335
NM_181486.4(TBX5):c.101C>T (p.Ala34Val) rs761952835
NM_181486.4(TBX5):c.1027A>G (p.Met343Val)
NM_181486.4(TBX5):c.102C>A (p.Ala34=)
NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter) rs2136360259
NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.1077A>G (p.Pro359=)
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
NM_181486.4(TBX5):c.10G>A (p.Ala4Thr) rs1319312312
NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter) rs1565923835
NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)
NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter) rs1593836748
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) rs759607221
NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)
NM_181486.4(TBX5):c.1155C>T (p.Pro385=)
NM_181486.4(TBX5):c.1157C>A (p.Pro386His) rs771857554
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser) rs1187747905
NM_181486.4(TBX5):c.1166C>A (p.Pro389His)
NM_181486.4(TBX5):c.116del (p.Pro39fs)
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)
NM_181486.4(TBX5):c.1206A>G (p.Pro402=) rs763129045
NM_181486.4(TBX5):c.1233C>T (p.Thr411=) rs188839350
NM_181486.4(TBX5):c.1242C>A (p.Thr414=) rs370133092
NM_181486.4(TBX5):c.1243G>A (p.Val415Met)
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
NM_181486.4(TBX5):c.1332C>T (p.Asn444=)
NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter) rs863223777
NM_181486.4(TBX5):c.1430A>G (p.Gln477Arg)
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)
NM_181486.4(TBX5):c.1451C>A (p.Pro484His) rs768644203
NM_181486.4(TBX5):c.147+13C>G
NM_181486.4(TBX5):c.147+8_147+10del rs1593886226
NM_181486.4(TBX5):c.148-2A>C
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
NM_181486.4(TBX5):c.1488T>C (p.Thr496=)
NM_181486.4(TBX5):c.1518C>T (p.His506=)
NM_181486.4(TBX5):c.1524T>C (p.Val508=)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter) rs1208004863
NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)
NM_181486.4(TBX5):c.163_172del (p.Lys55fs) rs1593883930
NM_181486.4(TBX5):c.188T>G (p.Leu63Arg)
NM_181486.4(TBX5):c.216G>A (p.Thr72=)
NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer) rs1871830996
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) rs1871830806
NM_181486.4(TBX5):c.242+15T>C
NM_181486.4(TBX5):c.242+18G>A
NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)
NM_181486.4(TBX5):c.243-13C>T
NM_181486.4(TBX5):c.243-1G>A rs1871673582
NM_181486.4(TBX5):c.243-20_243-5del rs2136418321
NM_181486.4(TBX5):c.243-2A>G rs2136418310
NM_181486.4(TBX5):c.246G>T (p.Arg82=)
NM_181486.4(TBX5):c.246del (p.Met83fs) rs1871673161
NM_181486.4(TBX5):c.249G>A (p.Met83Ile)
NM_181486.4(TBX5):c.252T>A (p.Phe84Leu) rs2136418265
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys) rs886039131
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
NM_181486.4(TBX5):c.26G>A (p.Gly9Asp)
NM_181486.4(TBX5):c.278dup (p.Leu94fs) rs1555226420
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
NM_181486.4(TBX5):c.294G>T (p.Thr98=)
NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)
NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu) rs2136418134
NM_181486.4(TBX5):c.341dup (p.Tyr114Ter) rs2136418056
NM_181486.4(TBX5):c.362+13G>T
NM_181486.4(TBX5):c.362+2T>C rs1593881162
NM_181486.4(TBX5):c.363-2A>G rs1565941072
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
NM_181486.4(TBX5):c.383_386dup (p.Met131fs) rs2136416963
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.390del (p.Met131fs) rs1565941046
NM_181486.4(TBX5):c.400del (p.Arg134fs) rs1408227928
NM_181486.4(TBX5):c.401G>C (p.Arg134Pro)
NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)
NM_181486.4(TBX5):c.408C>T (p.Tyr136=)
NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr) rs1871581681
NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
NM_181486.4(TBX5):c.432dup (p.Gly145fs) rs1555226322
NM_181486.4(TBX5):c.438G>C (p.Ala146=)
NM_181486.4(TBX5):c.443G>A (p.Trp148Ter) rs1060503154
NM_181486.4(TBX5):c.456del (p.Val153fs) rs1057520136
NM_181486.4(TBX5):c.462C>A (p.Ser154=)
NM_181486.4(TBX5):c.476A>C (p.Lys159Thr) rs2136416640
NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)
NM_181486.4(TBX5):c.481A>T (p.Thr161Ser) rs2136416621
NM_181486.4(TBX5):c.482C>T (p.Thr161Ile)
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp) rs1871568678
NM_181486.4(TBX5):c.486C>A (p.Asn162Lys) rs2136416601
NM_181486.4(TBX5):c.492C>G (p.His164Gln)
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.510+8C>A
NM_181486.4(TBX5):c.511-1G>C rs2136411098
NM_181486.4(TBX5):c.511-1del
NM_181486.4(TBX5):c.511-9del rs775035000
NM_181486.4(TBX5):c.529C>T (p.His177Tyr)
NM_181486.4(TBX5):c.537C>T (p.Tyr179=)
NM_181486.4(TBX5):c.555C>T (p.Ile185=) rs142631741
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181486.4(TBX5):c.564G>T (p.Ala188=)
NM_181486.4(TBX5):c.57A>C (p.Ala19=) rs567785340
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.593del (p.Asn198fs) rs1565939215
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.594dup (p.Thr199fs)
NM_181486.4(TBX5):c.595dup (p.Thr199fs) rs1555226005
NM_181486.4(TBX5):c.611dup (p.His204fs) rs863223786
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
NM_181486.4(TBX5):c.613G>T (p.Val205Phe) rs190881877
NM_181486.4(TBX5):c.627T>C (p.Thr209=)
NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)
NM_181486.4(TBX5):c.629_632dup (p.Ile212fs) rs1555225989
NM_181486.4(TBX5):c.652C>T (p.Gln218Ter) rs2136410724
NM_181486.4(TBX5):c.658_660del (p.His220del) rs1871328960
NM_181486.4(TBX5):c.663+16A>G rs752606041
NM_181486.4(TBX5):c.663+1G>A rs1871328488
NM_181486.4(TBX5):c.663+6C>G
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser) rs2136397905
NM_181486.4(TBX5):c.698C>T (p.Ala233Val) rs1870766147
NM_181486.4(TBX5):c.69del (p.Cys24fs) rs1872004016
NM_181486.4(TBX5):c.6C>G (p.Ala2=)
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181486.4(TBX5):c.717T>C (p.Ser239=)
NM_181486.4(TBX5):c.719A>G (p.Asp240Gly)
NM_181486.4(TBX5):c.723C>T (p.Asp241=)
NM_181486.4(TBX5):c.727del (p.Glu243fs) rs1870762150
NM_181486.4(TBX5):c.730C>T (p.Leu244=)
NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)
NM_181486.4(TBX5):c.736A>C (p.Arg246=)
NM_181486.4(TBX5):c.736A>G (p.Arg246Gly)
NM_181486.4(TBX5):c.755+11G>A
NM_181486.4(TBX5):c.755+17del rs1412151452
NM_181486.4(TBX5):c.755+1G>A
NM_181486.4(TBX5):c.755+1G>T rs2136397746
NM_181486.4(TBX5):c.755+4G>A
NM_181486.4(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_181486.4(TBX5):c.756-2A>G rs1869545659
NM_181486.4(TBX5):c.760G>T (p.Glu254Ter) rs2136373802
NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter) rs2136373795
NM_181486.4(TBX5):c.813_814del (p.His271fs) rs1869539814
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181486.4(TBX5):c.841C>G (p.Leu281Val) rs760177359
NM_181486.4(TBX5):c.842T>G (p.Leu281Arg)
NM_181486.4(TBX5):c.853_865del (p.Ser285fs)
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)
NM_181486.4(TBX5):c.864G>A (p.Gly288=)
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_181486.4(TBX5):c.884del (p.Asn295fs)
NM_181486.4(TBX5):c.894C>T (p.Ser298=)
NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)
NM_181486.4(TBX5):c.914T>C (p.Leu305Pro)
NM_181486.4(TBX5):c.920del (p.Pro307fs)
NM_181486.4(TBX5):c.926_927del (p.Asn309fs) rs1593847163
NM_181486.4(TBX5):c.927C>A (p.Asn309Lys)
NM_181486.4(TBX5):c.937C>G (p.Leu313Val)
NM_181486.4(TBX5):c.944A>G (p.Gln315Arg)
NM_181486.4(TBX5):c.958del (p.Ile320fs) rs878853750
NM_181486.4(TBX5):c.982+11T>G
NM_181486.4(TBX5):c.982+14C>T
NM_181486.4(TBX5):c.982+1G>A rs2136373207
NM_181486.4(TBX5):c.982+20G>A rs1231635306
NM_181486.4(TBX5):c.982+2T>G rs2136373205
NM_181486.4(TBX5):c.983-13C>T
NM_181486.4(TBX5):c.983-8C>T

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