NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg)
|
rs149949971
|
0.00065
|
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)
|
rs145519139
|
0.00040
|
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val)
|
rs145093897
|
0.00038
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
NM_005585.5(SMAD6):c.761C>A (p.Ala254Asp)
|
rs529866697
|
0.00030
|
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)
|
rs536177240
|
0.00026
|
NM_005585.5(SMAD6):c.173C>G (p.Ser58Cys)
|
rs756752655
|
0.00023
|
NM_005585.5(SMAD6):c.328C>T (p.Pro110Ser)
|
rs773431944
|
0.00023
|
NM_000501.4(ELN):c.1358-234G>C
|
rs1011146056
|
0.00022
|
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)
|
rs149117932
|
0.00021
|
NM_005585.5(SMAD6):c.431C>T (p.Pro144Leu)
|
rs574652189
|
0.00018
|
NM_000501.4(ELN):c.992C>T (p.Pro331Leu)
|
rs138504338
|
0.00017
|
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr)
|
rs199531653
|
0.00016
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
0.00015
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr)
|
rs199822239
|
0.00015
|
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)
|
rs139335797
|
0.00013
|
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg)
|
rs990598927
|
0.00013
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
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_000501.4(ELN):c.1825C>T (p.Leu609Phe)
|
rs200133966
|
0.00011
|
NM_000501.4(ELN):c.202G>A (p.Gly68Arg)
|
rs372566075
|
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_000501.4(ELN):c.1043G>A (p.Gly348Glu)
|
rs186728715
|
0.00010
|
NM_000501.4(ELN):c.1149C>T (p.Tyr383=)
|
rs199621188
|
0.00010
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
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_000501.4(ELN):c.554C>G (p.Ala185Gly)
|
rs781956448
|
0.00009
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000501.4(ELN):c.2051G>A (p.Gly684Asp)
|
rs150984896
|
0.00008
|
NM_000501.4(ELN):c.34G>A (p.Gly12Arg)
|
rs149127344
|
0.00008
|
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_000501.4(ELN):c.1315+1G>A
|
rs782568267
|
0.00007
|
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)
|
rs372788076
|
0.00007
|
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)
|
rs373650953
|
0.00007
|
NM_000501.4(ELN):c.914C>T (p.Ala305Val)
|
rs782396192
|
0.00007
|
NM_005585.5(SMAD6):c.439G>A (p.Gly147Arg)
|
rs867644316
|
0.00007
|
NM_005585.5(SMAD6):c.856G>A (p.Asp286Asn)
|
rs759918873
|
0.00007
|
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys)
|
rs139371720
|
0.00007
|
NM_000501.4(ELN):c.1216G>A (p.Gly406Ser)
|
rs782563418
|
0.00006
|
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)
|
rs375116795
|
0.00006
|
NM_000501.4(ELN):c.1358-192C>T
|
rs185060213
|
0.00006
|
NM_000501.4(ELN):c.1543G>A (p.Val515Met)
|
rs376258672
|
0.00006
|
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser)
|
rs375579231
|
0.00006
|
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)
|
rs201012726
|
0.00006
|
NM_000501.4(ELN):c.773C>T (p.Ala258Val)
|
rs531144748
|
0.00006
|
NM_005585.5(SMAD6):c.158G>A (p.Gly53Glu)
|
rs955270050
|
0.00006
|
NM_005585.5(SMAD6):c.278T>C (p.Met93Thr)
|
rs985309653
|
0.00006
|
NM_181486.4(TBX5):c.1396G>A (p.Val466Met)
|
rs765443283
|
0.00006
|
NM_000501.4(ELN):c.1358-186C>T
|
rs782074494
|
0.00005
|
NM_000501.4(ELN):c.145G>A (p.Gly49Arg)
|
rs144757453
|
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_000501.4(ELN):c.1063C>G (p.Pro355Ala)
|
rs782505248
|
0.00004
|
NM_000501.4(ELN):c.1348G>A (p.Ala450Thr)
|
rs782546858
|
0.00004
|
NM_000501.4(ELN):c.1859-15G>A
|
rs369551022
|
0.00004
|
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg)
|
rs34852121
|
0.00004
|
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)
|
rs369804770
|
0.00004
|
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)
|
rs781857513
|
0.00004
|
NM_000501.4(ELN):c.540A>C (p.Pro180=)
|
rs145778002
|
0.00004
|
NM_000501.4(ELN):c.593C>T (p.Pro198Leu)
|
rs146729533
|
0.00004
|
NM_000501.4(ELN):c.799G>A (p.Gly267Ser)
|
rs150092063
|
0.00004
|
NM_000501.4(ELN):c.853G>A (p.Val285Met)
|
rs199709542
|
0.00004
|
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)
|
rs782625771
|
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.859G>A (p.Glu287Lys)
|
rs570279865
|
0.00004
|
NM_005585.5(SMAD6):c.938C>T (p.Pro313Leu)
|
rs748388661
|
0.00004
|
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg)
|
rs372889752
|
0.00003
|
NM_000501.4(ELN):c.1435G>A (p.Val479Met)
|
rs925528680
|
0.00003
|
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)
|
rs140085632
|
0.00003
|
NM_000501.4(ELN):c.2020G>A (p.Ala674Thr)
|
rs782535492
|
0.00003
|
NM_000501.4(ELN):c.476G>A (p.Arg159Gln)
|
rs369045063
|
0.00003
|
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu)
|
rs772926628
|
0.00003
|
NM_005585.5(SMAD6):c.134C>G (p.Pro45Arg)
|
rs1027280912
|
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.293C>T (p.Thr98Met)
|
rs772844823
|
0.00003
|
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser)
|
rs201637366
|
0.00003
|
NM_000501.4(ELN):c.1097-3C>T
|
rs782265101
|
0.00002
|
NM_000501.4(ELN):c.113C>G (p.Pro38Arg)
|
rs781951450
|
0.00002
|
NM_000501.4(ELN):c.1282G>A (p.Gly428Arg)
|
rs200862792
|
0.00002
|
NM_000501.4(ELN):c.1288G>A (p.Gly430Arg)
|
rs374470120
|
0.00002
|
NM_000501.4(ELN):c.133+6G>A
|
rs1216357938
|
0.00002
|
NM_000501.4(ELN):c.1358-232G>C
|
rs782246342
|
0.00002
|
NM_000501.4(ELN):c.1622-14C>T
|
rs782637446
|
0.00002
|
NM_000501.4(ELN):c.164C>T (p.Ala55Val)
|
rs1411248717
|
0.00002
|
NM_000501.4(ELN):c.1747+21C>T
|
rs782679593
|
0.00002
|
NM_000501.4(ELN):c.20C>T (p.Ala7Val)
|
rs559210020
|
0.00002
|
NM_000501.4(ELN):c.295G>A (p.Ala99Thr)
|
rs782660886
|
0.00002
|
NM_000501.4(ELN):c.367G>A (p.Val123Met)
|
rs1480312927
|
0.00002
|
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys)
|
rs1471237206
|
0.00002
|
NM_000501.4(ELN):c.8G>A (p.Gly3Asp)
|
rs1198683869
|
0.00002
|
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.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.80G>A (p.Ser27Asn)
|
rs1448725205
|
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.965A>G (p.His322Arg)
|
rs759009256
|
0.00002
|
NM_000501.4(ELN):c.1009C>T (p.Pro337Ser)
|
rs1340826777
|
0.00001
|
NM_000501.4(ELN):c.1027G>C (p.Gly343Arg)
|
rs781939749
|
0.00001
|
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)
|
rs973649598
|
0.00001
|
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)
|
rs782359367
|
0.00001
|
NM_000501.4(ELN):c.119G>T (p.Gly40Val)
|
rs55951999
|
0.00001
|
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg)
|
rs782630866
|
0.00001
|
NM_000501.4(ELN):c.133+5C>T
|
rs375144839
|
0.00001
|
NM_000501.4(ELN):c.1358-235G>A
|
rs1293346828
|
0.00001
|
NM_000501.4(ELN):c.1366A>G (p.Thr456Ala)
|
rs370603113
|
0.00001
|
NM_000501.4(ELN):c.1463G>A (p.Gly488Asp)
|
rs1383828155
|
0.00001
|
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)
|
rs374253638
|
0.00001
|
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)
|
rs150248865
|
0.00001
|
NM_000501.4(ELN):c.1747+81A>G
|
rs782668288
|
0.00001
|
NM_000501.4(ELN):c.1768G>A (p.Ala590Thr)
|
rs868932429
|
0.00001
|
NM_000501.4(ELN):c.1785T>C (p.Tyr595=)
|
rs727503033
|
0.00001
|
NM_000501.4(ELN):c.1787G>A (p.Gly596Glu)
|
rs1554685979
|
0.00001
|
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser)
|
rs781904032
|
0.00001
|
NM_000501.4(ELN):c.1876G>A (p.Ala626Thr)
|
rs781861907
|
0.00001
|
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr)
|
rs552662894
|
0.00001
|
NM_000501.4(ELN):c.1916T>C (p.Phe639Ser)
|
rs782280724
|
0.00001
|
NM_000501.4(ELN):c.1966G>A (p.Gly656Arg)
|
rs782783288
|
0.00001
|
NM_000501.4(ELN):c.443G>A (p.Gly148Asp)
|
rs781952083
|
0.00001
|
NM_000501.4(ELN):c.482C>G (p.Pro161Arg)
|
rs1792196459
|
0.00001
|
NM_000501.4(ELN):c.689A>T (p.Tyr230Phe)
|
rs1411516655
|
0.00001
|
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
|
rs782285456
|
0.00001
|
NM_000501.4(ELN):c.798C>T (p.Phe266=)
|
rs552274876
|
0.00001
|
NM_000501.4(ELN):c.898A>T (p.Thr300Ser)
|
rs766735416
|
0.00001
|
NM_000501.4(ELN):c.901C>G (p.Pro301Ala)
|
rs900409298
|
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.1225C>T (p.Pro409Ser)
|
rs757027884
|
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.1377C>G (p.Tyr459Ter)
|
rs1290060451
|
0.00001
|
NM_005585.5(SMAD6):c.1393C>T (p.Arg465Cys)
|
rs761888345
|
0.00001
|
NM_005585.5(SMAD6):c.202C>T (p.Pro68Ser)
|
rs1235974469
|
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.374C>T (p.Thr125Ile)
|
rs759468399
|
0.00001
|
NM_005585.5(SMAD6):c.388T>C (p.Ser130Pro)
|
rs1893032616
|
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.484C>T (p.Arg162Cys)
|
rs1337307419
|
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.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.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.883G>A (p.Asp295Asn)
|
rs773338089
|
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_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.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.322C>T (p.Pro108Ser)
|
rs376621016
|
0.00001
|
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu)
|
rs1479545982
|
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_000007.13:g.(?_73442518)_(73475489_?)dup
|
|
|
NC_000007.13:g.(?_73442518)_(73483030_?)dup
|
|
|
NC_000007.13:g.(?_73477473)_(73478035_?)del
|
|
|
NC_000007.13:g.(?_73480004)_(73481126_?)del
|
|
|
NC_000007.14:g.74043883_74043897del
|
|
|
NC_000012.11:g.(?_114793337)_(114793931_?)dup
|
|
|
NC_000015.10:g.(?_66703239)_(67066380_?)del
|
|
|
NM_000501.4(ELN):c.1021G>T (p.Val341Phe)
|
rs190758549
|
|
NM_000501.4(ELN):c.1024C>G (p.Pro342Ala)
|
|
|
NM_000501.4(ELN):c.1027G>A (p.Gly343Ser)
|
rs781939749
|
|
NM_000501.4(ELN):c.1028G>A (p.Gly343Asp)
|
|
|
NM_000501.4(ELN):c.1033G>A (p.Gly345Ser)
|
rs2131923109
|
|
NM_000501.4(ELN):c.1034_1087dup (p.Ala362_Ala363insGlyValProGlyAlaGlyIleProValValProGlyAlaGlyIleProGlyAla)
|
|
|
NM_000501.4(ELN):c.1036G>A (p.Val346Ile)
|
|
|
NM_000501.4(ELN):c.1054C>G (p.Pro352Ala)
|
|
|
NM_000501.4(ELN):c.1073_1087del (p.Gly358_Ala362del)
|
|
|
NM_000501.4(ELN):c.1084G>C (p.Ala362Pro)
|
|
|
NM_000501.4(ELN):c.1088C>T (p.Ala363Val)
|
|
|
NM_000501.4(ELN):c.1096+12TG[15]
|
|
|
NM_000501.4(ELN):c.1096+12TG[23]
|
|
|
NM_000501.4(ELN):c.1096+12TG[25]
|
|
|
NM_000501.4(ELN):c.1096+12TG[8]
|
rs10579871
|
|
NM_000501.4(ELN):c.1132G>A (p.Ala378Thr)
|
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
NM_000501.4(ELN):c.1192G>T (p.Gly398Trp)
|
rs2229427
|
|
NM_000501.4(ELN):c.1205G>A (p.Gly402Glu)
|
|
|
NM_000501.4(ELN):c.1237G>A (p.Gly413Ser)
|
|
|
NM_000501.4(ELN):c.1238G>C (p.Gly413Ala)
|
|
|
NM_000501.4(ELN):c.1252G>C (p.Ala418Pro)
|
rs142438174
|
|
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
|
rs2071307
|
|
NM_000501.4(ELN):c.1270G>A (p.Gly424Arg)
|
|
|
NM_000501.4(ELN):c.1274G>A (p.Gly425Asp)
|
rs1795231067
|
|
NM_000501.4(ELN):c.1283G>C (p.Gly428Ala)
|
rs1795235239
|
|
NM_000501.4(ELN):c.1292G>T (p.Gly431Val)
|
|
|
NM_000501.4(ELN):c.1298C>T (p.Pro433Leu)
|
|
|
NM_000501.4(ELN):c.1303G>A (p.Val435Ile)
|
|
|
NM_000501.4(ELN):c.1315+17_1315+18delinsTT
|
|
|
NM_000501.4(ELN):c.1315C>T (p.Pro439Ser)
|
|
|
NM_000501.4(ELN):c.1321G>A (p.Ala441Thr)
|
|
|
NM_000501.4(ELN):c.1324C>G (p.Gln442Glu)
|
|
|
NM_000501.4(ELN):c.133+10A>G
|
|
|
NM_000501.4(ELN):c.134-6C>G
|
rs368904789
|
|
NM_000501.4(ELN):c.134G>C (p.Gly45Ala)
|
|
|
NM_000501.4(ELN):c.1356C>T (p.Tyr452=)
|
|
|
NM_000501.4(ELN):c.1358-196G>A
|
|
|
NM_000501.4(ELN):c.1358-208G>A
|
|
|
NM_000501.4(ELN):c.1358-216C>A
|
|
|
NM_000501.4(ELN):c.1358-241G>A
|
rs1554680844
|
|
NM_000501.4(ELN):c.1358-244G>A
|
|
|
NM_000501.4(ELN):c.1358-261G>A
|
|
|
NM_000501.4(ELN):c.1358-30_1358-19del
|
|
|
NM_000501.4(ELN):c.1372G>A (p.Ala458Thr)
|
|
|
NM_000501.4(ELN):c.1373C>T (p.Ala458Val)
|
rs149117932
|
|
NM_000501.4(ELN):c.1378G>A (p.Ala460Thr)
|
|
|
NM_000501.4(ELN):c.1383_1394del (p.462AKAA[1])
|
|
|
NM_000501.4(ELN):c.1385C>A (p.Ala462Asp)
|
|
|
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)
|
|
|
NM_000501.4(ELN):c.1396_1407dup (p.Ala469_Gln470insAlaLysAlaAla)
|
|
|
NM_000501.4(ELN):c.1399A>G (p.Lys467Glu)
|
rs1583924554
|
|
NM_000501.4(ELN):c.1402G>A (p.Ala468Thr)
|
|
|
NM_000501.4(ELN):c.1405G>A (p.Ala469Thr)
|
|
|
NM_000501.4(ELN):c.140G>C (p.Gly47Ala)
|
rs1554665826
|
|
NM_000501.4(ELN):c.1432G>A (p.Gly478Ser)
|
|
|
NM_000501.4(ELN):c.1434_1469del (p.479VAPGVG[1])
|
|
|
NM_000501.4(ELN):c.1446_1463del (p.479VAPGVG[2])
|
rs1563852008
|
|
NM_000501.4(ELN):c.1451G>A (p.Gly484Asp)
|
|
|
NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1])
|
rs782202364
|
|
NM_000501.4(ELN):c.1459C>A (p.Pro487Thr)
|
|
|
NM_000501.4(ELN):c.1469G>C (p.Gly490Ala)
|
rs1554682884
|
|
NM_000501.4(ELN):c.1484T>C (p.Val495Ala)
|
|
|
NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del)
|
rs782284755
|
|
NM_000501.4(ELN):c.14C>G (p.Thr5Arg)
|
|
|
NM_000501.4(ELN):c.1507G>T (p.Val503Leu)
|
rs41523046
|
|
NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1])
|
rs782225994
|
|
NM_000501.4(ELN):c.1518_1535dup (p.Gly518_Ile519insValGlyValAlaProGly)
|
|
|
NM_000501.4(ELN):c.1528G>T (p.Ala510Ser)
|
|
|
NM_000501.4(ELN):c.152T>C (p.Leu51Pro)
|
|
|
NM_000501.4(ELN):c.1532C>T (p.Pro511Leu)
|
|
|
NM_000501.4(ELN):c.1559G>A (p.Gly520Asp)
|
|
|
NM_000501.4(ELN):c.155G>A (p.Gly52Glu)
|
|
|
NM_000501.4(ELN):c.1564G>C (p.Gly522Arg)
|
|
|
NM_000501.4(ELN):c.1573G>A (p.Ala525Thr)
|
|
|
NM_000501.4(ELN):c.1576+6T>G
|
|
|
NM_000501.4(ELN):c.158G>A (p.Gly53Glu)
|
|
|
NM_000501.4(ELN):c.1591G>A (p.Ala531Thr)
|
rs137987089
|
|
NM_000501.4(ELN):c.163+3G>A
|
|
|
NM_000501.4(ELN):c.1648_1674del (p.Ile550_Gly558del)
|
|
|
NM_000501.4(ELN):c.1670_1696del (p.Val557_Gly565del)
|
|
|
NM_000501.4(ELN):c.1670_1696dup (p.Gly565_Ala566insValGlyValProGlyLeuGlyValGly)
|
|
|
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3])
|
rs782739997
|
|
NM_000501.4(ELN):c.1702G>A (p.Val568Ile)
|
rs1554683612
|
|
NM_000501.4(ELN):c.1723_1724delinsTG (p.Ala575Cys)
|
|
|
NM_000501.4(ELN):c.1727G>T (p.Gly576Val)
|
|
|
NM_000501.4(ELN):c.1745C>T (p.Ala582Val)
|
|
|
NM_000501.4(ELN):c.1747+104A>G
|
|
|
NM_000501.4(ELN):c.1747+105T>C
|
rs536262259
|
|
NM_000501.4(ELN):c.1747+15G>C
|
|
|
NM_000501.4(ELN):c.1747+22G>A
|
|
|
NM_000501.4(ELN):c.1747+71C>A
|
|
|
NM_000501.4(ELN):c.1747+85C>T
|
|
|
NM_000501.4(ELN):c.1747+93C>T
|
|
|
NM_000501.4(ELN):c.1747+98G>A
|
rs2132332281
|
|
NM_000501.4(ELN):c.1748-18A>G
|
|
|
NM_000501.4(ELN):c.1748-3C>T
|
|
|
NM_000501.4(ELN):c.176G>T (p.Gly59Val)
|
|
|
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile)
|
rs782679448
|
|
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)
|
rs781963804
|
|
NM_000501.4(ELN):c.1844C>T (p.Pro615Leu)
|
|
|
NM_000501.4(ELN):c.1858G>C (p.Gly620Arg)
|
rs727503034
|
|
NM_000501.4(ELN):c.1870G>A (p.Ala624Thr)
|
|
|
NM_000501.4(ELN):c.1878_1879insAAAGCTTTG (p.Ala626_Ala627insLysAlaLeu)
|
rs1563868747
|
|
NM_000501.4(ELN):c.1884_1886del (p.Ala630del)
|
|
|
NM_000501.4(ELN):c.1885_1902dup (p.Ala629_Ala634dup)
|
rs1337161292
|
|
NM_000501.4(ELN):c.1891A>G (p.Lys631Glu)
|
|
|
NM_000501.4(ELN):c.1894G>T (p.Ala632Ser)
|
|
|
NM_000501.4(ELN):c.1921C>G (p.Leu641Val)
|
|
|
NM_000501.4(ELN):c.1946G>A (p.Gly649Glu)
|
rs200041224
|
|
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala)
|
rs200041224
|
|
NM_000501.4(ELN):c.1956_1970del (p.648GGLGV[1])
|
rs782015142
|
|
NM_000501.4(ELN):c.1957G>A (p.Gly653Arg)
|
|
|
NM_000501.4(ELN):c.196+5G>A
|
|
|
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
|
|
|
NM_000501.4(ELN):c.197T>C (p.Val66Ala)
|
|
|
NM_000501.4(ELN):c.1985G>C (p.Gly662Ala)
|
|
|
NM_000501.4(ELN):c.1993+4A>G
|
rs781872334
|
|
NM_000501.4(ELN):c.2014G>A (p.Ala672Thr)
|
|
|
NM_000501.4(ELN):c.2031C>T (p.Tyr677=)
|
|
|
NM_000501.4(ELN):c.2033G>A (p.Gly678Asp)
|
rs371321792
|
|
NM_000501.4(ELN):c.205G>C (p.Gly69Arg)
|
|
|
NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
|
|
|
NM_000501.4(ELN):c.2086+4G>A
|
|
|
NM_000501.4(ELN):c.2089G>A (p.Val697Met)
|
|
|
NM_000501.4(ELN):c.208C>T (p.Leu70Phe)
|
|
|
NM_000501.4(ELN):c.2104G>C (p.Gly702Arg)
|
|
|
NM_000501.4(ELN):c.2109C>G (p.Phe703Leu)
|
rs149755814
|
|
NM_000501.4(ELN):c.2114T>C (p.Leu705Ser)
|
|
|
NM_000501.4(ELN):c.2128C>G (p.Pro710Ala)
|
rs368993919
|
|
NM_000501.4(ELN):c.2131+1G>A
|
|
|
NM_000501.4(ELN):c.2132-2A>G
|
|
|
NM_000501.4(ELN):c.215G>T (p.Gly72Val)
|
|
|
NM_000501.4(ELN):c.2162G>A (p.Arg721Gln)
|
|
|
NM_000501.4(ELN):c.232G>A (p.Gly78Arg)
|
|
|
NM_000501.4(ELN):c.238G>A (p.Gly80Ser)
|
|
|
NM_000501.4(ELN):c.250G>A (p.Ala84Thr)
|
|
|
NM_000501.4(ELN):c.250G>T (p.Ala84Ser)
|
|
|
NM_000501.4(ELN):c.263C>T (p.Pro88Leu)
|
|
|
NM_000501.4(ELN):c.26C>T (p.Pro9Leu)
|
|
|
NM_000501.4(ELN):c.305C>G (p.Ala102Gly)
|
|
|
NM_000501.4(ELN):c.328G>T (p.Ala110Ser)
|
rs137953195
|
|
NM_000501.4(ELN):c.334C>T (p.Leu112Phe)
|
|
|
NM_000501.4(ELN):c.338G>A (p.Gly113Asp)
|
rs531401757
|
|
NM_000501.4(ELN):c.376+4C>T
|
|
|
NM_000501.4(ELN):c.376+5G>A
|
rs782770862
|
|
NM_000501.4(ELN):c.425C>A (p.Pro142Gln)
|
rs1013508230
|
|
NM_000501.4(ELN):c.426G>A (p.Pro142=)
|
|
|
NM_000501.4(ELN):c.427+4A>G
|
|
|
NM_000501.4(ELN):c.446_457del (p.Val149_Gly152del)
|
rs1227487686
|
|
NM_000501.4(ELN):c.469+3G>A
|
|
|
NM_000501.4(ELN):c.469+5G>C
|
rs727503025
|
|
NM_000501.4(ELN):c.469G>C (p.Gly157Arg)
|
rs1791850438
|
|
NM_000501.4(ELN):c.482C>T (p.Pro161Leu)
|
|
|
NM_000501.4(ELN):c.484G>A (p.Gly162Ser)
|
|
|
NM_000501.4(ELN):c.53T>G (p.Leu18Arg)
|
|
|
NM_000501.4(ELN):c.548G>A (p.Gly183Asp)
|
|
|
NM_000501.4(ELN):c.559G>A (p.Ala187Thr)
|
|
|
NM_000501.4(ELN):c.581C>A (p.Pro194His)
|
|
|
NM_000501.4(ELN):c.590G>A (p.Gly197Glu)
|
rs782698807
|
|
NM_000501.4(ELN):c.592C>T (p.Pro198Ser)
|
|
|
NM_000501.4(ELN):c.5C>T (p.Ala2Val)
|
|
|
NM_000501.4(ELN):c.602G>C (p.Gly201Ala)
|
rs1792623793
|
|
NM_000501.4(ELN):c.61C>T (p.Leu21Phe)
|
|
|
NM_000501.4(ELN):c.635A>G (p.Lys212Arg)
|
|
|
NM_000501.4(ELN):c.644G>A (p.Gly215Asp)
|
|
|
NM_000501.4(ELN):c.671G>A (p.Gly224Glu)
|
|
|
NM_000501.4(ELN):c.677T>G (p.Leu226Arg)
|
|
|
NM_000501.4(ELN):c.691G>A (p.Gly231Arg)
|
|
|
NM_000501.4(ELN):c.741G>T (p.Gly247=)
|
|
|
NM_000501.4(ELN):c.74G>A (p.Arg25Gln)
|
|
|
NM_000501.4(ELN):c.762AGC[3] (p.Ala260del)
|
|
|
NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup)
|
rs782185396
|
|
NM_000501.4(ELN):c.763G>A (p.Ala255Thr)
|
|
|
NM_000501.4(ELN):c.799+6T>A
|
|
|
NM_000501.4(ELN):c.79G>A (p.Gly27Arg)
|
|
|
NM_000501.4(ELN):c.809_817del (p.Ala270_Gly272del)
|
|
|
NM_000501.4(ELN):c.814G>A (p.Gly272Arg)
|
|
|
NM_000501.4(ELN):c.851G>A (p.Gly284Asp)
|
rs1287098263
|
|
NM_000501.4(ELN):c.851G>C (p.Gly284Ala)
|
|
|
NM_000501.4(ELN):c.863C>T (p.Ala288Val)
|
|
|
NM_000501.4(ELN):c.889+6A>G
|
|
|
NM_000501.4(ELN):c.889G>A (p.Gly297Ser)
|
|
|
NM_000501.4(ELN):c.889G>T (p.Gly297Cys)
|
|
|
NM_000501.4(ELN):c.890-14G>A
|
|
|
NM_000501.4(ELN):c.906TGCAGC[1] (p.Ala308_Ala311del)
|
rs782133793
|
|
NM_000501.4(ELN):c.906TGCAGC[4] (p.Ala311_Lys312insAlaAla)
|
|
|
NM_000501.4(ELN):c.911C>G (p.Ala304Gly)
|
|
|
NM_000501.4(ELN):c.913G>A (p.Ala305Thr)
|
rs1060503513
|
|
NM_000501.4(ELN):c.917C>T (p.Ala306Val)
|
|
|
NM_000501.4(ELN):c.949+5G>A
|
|
|
NM_000501.4(ELN):c.949+6T>C
|
rs1794154462
|
|
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.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.1051dup (p.Asp351fs)
|
|
|
NM_005585.5(SMAD6):c.1054C>A (p.Gln352Lys)
|
|
|
NM_005585.5(SMAD6):c.1055_1056insAT (p.Ala353fs)
|
rs2140681355
|
|
NM_005585.5(SMAD6):c.1066A>G (p.Ile356Val)
|
|
|
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.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.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.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.1244C>T (p.Pro415Leu)
|
rs387907284
|
|
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.1273dup (p.Leu425fs)
|
rs2140682011
|
|
NM_005585.5(SMAD6):c.1278C>A (p.Val426=)
|
rs1375981080
|
|
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.1305_1306del (p.Ile436fs)
|
|
|
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.1360G>A (p.Ala454Thr)
|
rs754474911
|
|
NM_005585.5(SMAD6):c.1360G>C (p.Ala454Pro)
|
|
|
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.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.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>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.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.172T>C (p.Ser58Pro)
|
|
|
NM_005585.5(SMAD6):c.178G>A (p.Val60Ile)
|
rs1298929102
|
|
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.18_22dup (p.Gly8fs)
|
|
|
NM_005585.5(SMAD6):c.19T>C (p.Ser7Pro)
|
rs1448375284
|
|
NM_005585.5(SMAD6):c.1A>G (p.Met1Val)
|
|
|
NM_005585.5(SMAD6):c.208G>A (p.Asp70Asn)
|
|
|
NM_005585.5(SMAD6):c.20C>A (p.Ser7Ter)
|
|
|
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.240_264del (p.Gly81fs)
|
|
|
NM_005585.5(SMAD6):c.247C>G (p.Arg83Gly)
|
rs1301285133
|
|
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.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.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.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.28G>T (p.Val10Leu)
|
|
|
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.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.341dup (p.Trp115fs)
|
rs1893030772
|
|
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.395G>T (p.Arg132Leu)
|
|
|
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.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.455C>T (p.Pro152Leu)
|
|
|
NM_005585.5(SMAD6):c.461dup (p.Gly155fs)
|
|
|
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.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.490C>T (p.Arg164Trp)
|
|
|
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.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.519A>T (p.Lys173Asn)
|
|
|
NM_005585.5(SMAD6):c.521C>T (p.Thr174Ile)
|
|
|
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)
|
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.544C>T (p.Arg182Trp)
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NM_005585.5(SMAD6):c.550A>C (p.Lys184Gln)
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NM_005585.5(SMAD6):c.553G>A (p.Glu185Lys)
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NM_005585.5(SMAD6):c.553G>C (p.Glu185Gln)
|
rs1893039406
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NM_005585.5(SMAD6):c.553G>T (p.Glu185Ter)
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NM_005585.5(SMAD6):c.556C>T (p.Arg186Cys)
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NM_005585.5(SMAD6):c.557G>A (p.Arg186His)
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NM_005585.5(SMAD6):c.557G>C (p.Arg186Pro)
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NM_005585.5(SMAD6):c.559T>C (p.Ser187Pro)
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NM_005585.5(SMAD6):c.55G>T (p.Val19Phe)
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NM_005585.5(SMAD6):c.569C>A (p.Thr190Lys)
|
rs1893040158
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NM_005585.5(SMAD6):c.583G>A (p.Val195Met)
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NM_005585.5(SMAD6):c.584_611del (p.Val195fs)
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NM_005585.5(SMAD6):c.586G>T (p.Glu196Ter)
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NM_005585.5(SMAD6):c.588G>T (p.Glu196Asp)
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rs1567091749
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NM_005585.5(SMAD6):c.590C>T (p.Ser197Phe)
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NM_005585.5(SMAD6):c.592C>T (p.Arg198Cys)
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rs1261743877
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NM_005585.5(SMAD6):c.595G>C (p.Gly199Arg)
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NM_005585.5(SMAD6):c.598_612del (p.Gly200_Gly204del)
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NM_005585.5(SMAD6):c.605C>T (p.Pro202Leu)
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NM_005585.5(SMAD6):c.611G>T (p.Gly204Val)
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NM_005585.5(SMAD6):c.613T>G (p.Cys205Gly)
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NM_005585.5(SMAD6):c.613del (p.Cys205fs)
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NM_005585.5(SMAD6):c.614_615delinsAA (p.Cys205Ter)
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NM_005585.5(SMAD6):c.620T>G (p.Leu207Arg)
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NM_005585.5(SMAD6):c.623T>C (p.Val208Ala)
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NM_005585.5(SMAD6):c.628C>T (p.Arg210Cys)
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NM_005585.5(SMAD6):c.635A>G (p.Asp212Gly)
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NM_005585.5(SMAD6):c.637C>G (p.Leu213Val)
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NM_005585.5(SMAD6):c.641G>A (p.Arg214His)
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NM_005585.5(SMAD6):c.649G>T (p.Gly217Cys)
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NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter)
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rs1196005021
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NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg)
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rs1567091826
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NM_005585.5(SMAD6):c.667dup (p.Gln223fs)
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rs2140582321
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NM_005585.5(SMAD6):c.680G>A (p.Gly227Asp)
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NM_005585.5(SMAD6):c.680_684delinsTCGT (p.Gly227fs)
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rs1893046284
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NM_005585.5(SMAD6):c.682C>G (p.Arg228Gly)
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NM_005585.5(SMAD6):c.683G>A (p.Arg228His)
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rs1439907263
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NM_005585.5(SMAD6):c.685C>G (p.Leu229Val)
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NM_005585.5(SMAD6):c.691C>A (p.Arg231Ser)
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NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys)
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rs1395007983
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NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)
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rs1419095990
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NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
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NM_005585.5(SMAD6):c.719A>G (p.Glu240Gly)
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rs2140582546
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NM_005585.5(SMAD6):c.71A>G (p.Glu24Gly)
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NM_005585.5(SMAD6):c.725A>C (p.Lys242Thr)
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NM_005585.5(SMAD6):c.730C>G (p.Leu244Val)
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NM_005585.5(SMAD6):c.736_755dup (p.Asp255fs)
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NM_005585.5(SMAD6):c.741C>A (p.Cys247Ter)
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NM_005585.5(SMAD6):c.746G>T (p.Ser249Ile)
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rs924088670
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NM_005585.5(SMAD6):c.747C>G (p.Ser249Arg)
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NM_005585.5(SMAD6):c.748_749delinsGC (p.Phe250Ala)
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NM_005585.5(SMAD6):c.752CCG[5] (p.Ala254dup)
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rs774732566
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NM_005585.5(SMAD6):c.754G>T (p.Ala252Ser)
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NM_005585.5(SMAD6):c.757G>A (p.Ala253Thr)
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rs1893050180
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NM_005585.5(SMAD6):c.764A>C (p.Asp255Ala)
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NM_005585.5(SMAD6):c.781T>G (p.Cys261Gly)
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rs2140582832
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NM_005585.5(SMAD6):c.787C>A (p.Pro263Thr)
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NM_005585.5(SMAD6):c.787C>T (p.Pro263Ser)
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rs1382712515
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NM_005585.5(SMAD6):c.788C>T (p.Pro263Leu)
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rs765573567
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NM_005585.5(SMAD6):c.791del (p.Tyr264fs)
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NM_005585.5(SMAD6):c.793C>T (p.His265Tyr)
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rs1555434295
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NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del)
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rs769605183
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NM_005585.5(SMAD6):c.79_84dup (p.Gly28_Gly29insSerGly)
|
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NM_005585.5(SMAD6):c.800G>C (p.Ser267Thr)
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NM_005585.5(SMAD6):c.802C>T (p.Arg268Trp)
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NM_005585.5(SMAD6):c.806T>A (p.Leu269His)
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NM_005585.5(SMAD6):c.812G>C (p.Gly271Ala)
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NM_005585.5(SMAD6):c.814C>G (p.Pro272Ala)
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NM_005585.5(SMAD6):c.817+4A>G
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NM_005585.5(SMAD6):c.817G>A (p.Glu273Lys)
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NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter)
|
rs1259557323
|
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NM_005585.5(SMAD6):c.81CGG[5] (p.Gly33dup)
|
rs936063348
|
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NM_005585.5(SMAD6):c.832C>T (p.Pro278Ser)
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|
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NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp)
|
rs200004068
|
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NM_005585.5(SMAD6):c.842G>A (p.Arg281Gln)
|
rs758203577
|
|
NM_005585.5(SMAD6):c.857A>G (p.Asp286Gly)
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NM_005585.5(SMAD6):c.874+1G>C
|
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NM_005585.5(SMAD6):c.874+4A>C
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NM_005585.5(SMAD6):c.874+4A>G
|
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NM_005585.5(SMAD6):c.874G>A (p.Asp292Asn)
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NM_005585.5(SMAD6):c.875-1G>A
|
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NM_005585.5(SMAD6):c.875-1G>C
|
rs768925483
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NM_005585.5(SMAD6):c.875-2A>T
|
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NM_005585.5(SMAD6):c.896C>G (p.Ser299Cys)
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NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala)
|
rs1567091237
|
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NM_005585.5(SMAD6):c.89_103dup (p.Asp34_Glu35insGlyGlyGlyGlyAsp)
|
|
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NM_005585.5(SMAD6):c.900C>G (p.Tyr300Ter)
|
|
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NM_005585.5(SMAD6):c.901A>G (p.Thr301Ala)
|
rs1470199537
|
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NM_005585.5(SMAD6):c.901A>T (p.Thr301Ser)
|
rs1470199537
|
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NM_005585.5(SMAD6):c.916A>G (p.Thr306Ala)
|
|
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NM_005585.5(SMAD6):c.928A>G (p.Ile310Val)
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|
|
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del)
|
rs750149627
|
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NM_005585.5(SMAD6):c.93_95del (p.Gly33del)
|
rs1046189206
|
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NM_005585.5(SMAD6):c.953-2A>G
|
rs1016515449
|
|
NM_005585.5(SMAD6):c.953-2_968del
|
|
|
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
|
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NM_005585.5(SMAD6):c.993G>C (p.Trp331Cys)
|
|
|
NM_005585.5(SMAD6):c.998G>A (p.Ser333Asn)
|
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|
NM_181486.4(TBX5):c.1010C>A (p.Pro337His)
|
|
|
NM_181486.4(TBX5):c.1027A>G (p.Met343Val)
|
|
|
NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)
|
|
|
NM_181486.4(TBX5):c.10G>A (p.Ala4Thr)
|
rs1319312312
|
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NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)
|
|
|
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.1165C>T (p.Pro389Ser)
|
rs1187747905
|
|
NM_181486.4(TBX5):c.1166C>A (p.Pro389His)
|
|
|
NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)
|
|
|
NM_181486.4(TBX5):c.1242C>A (p.Thr414=)
|
rs370133092
|
|
NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)
|
|
|
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.1544G>A (p.Ser515Asn)
|
|
|
NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)
|
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|
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
|
|
|
NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)
|
|
|
NM_181486.4(TBX5):c.188T>G (p.Leu63Arg)
|
|
|
NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)
|
|
|
NM_181486.4(TBX5):c.249G>A (p.Met83Ile)
|
|
|
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys)
|
rs886039131
|
|
NM_181486.4(TBX5):c.26G>A (p.Gly9Asp)
|
|
|
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
|
|
|
NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)
|
|
|
NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu)
|
rs2136418134
|
|
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys)
|
rs763125466
|
|
NM_181486.4(TBX5):c.401G>C (p.Arg134Pro)
|
|
|
NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)
|
|
|
NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr)
|
rs1871581681
|
|
NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)
|
|
|
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.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.529C>T (p.His177Tyr)
|
|
|
NM_181486.4(TBX5):c.557T>G (p.Val186Gly)
|
rs1555226019
|
|
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
|
|
|
NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)
|
|
|
NM_181486.4(TBX5):c.663+6C>G
|
|
|
NM_181486.4(TBX5):c.698C>T (p.Ala233Val)
|
rs1870766147
|
|
NM_181486.4(TBX5):c.719A>G (p.Asp240Gly)
|
|
|
NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)
|
|
|
NM_181486.4(TBX5):c.755+4G>A
|
|
|
NM_181486.4(TBX5):c.755G>T (p.Ser252Ile)
|
rs863223776
|
|
NM_181486.4(TBX5):c.841C>G (p.Leu281Val)
|
rs760177359
|
|
NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)
|
|
|
NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)
|
|
|
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)
|
|
|