NM_080473.5(GATA5):c.1128A>G (p.Pro376=)
|
rs6061550
|
0.53748
|
NM_005901.6(SMAD2):c.828G>A (p.Ser276=)
|
rs1051066
|
0.01853
|
NM_080473.5(GATA5):c.232G>A (p.Gly78Ser)
|
rs572247741
|
0.00227
|
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)
|
rs112433432
|
0.00088
|
NM_080473.5(GATA5):c.424T>C (p.Tyr142His)
|
rs111554140
|
0.00061
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
NM_021005.4(NR2F2):c.537C>T (p.Ser179=)
|
rs143951395
|
0.00055
|
NM_080473.5(GATA5):c.83C>T (p.Ala28Val)
|
rs112701160
|
0.00038
|
NM_021005.4(NR2F2):c.129C>G (p.Pro43=)
|
rs551936462
|
0.00029
|
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)
|
rs374016704
|
0.00028
|
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg)
|
rs140317494
|
0.00026
|
NM_021005.4(NR2F2):c.834G>A (p.Ser278=)
|
rs199886454
|
0.00021
|
NM_021005.4(NR2F2):c.816C>G (p.Ala272=)
|
rs76163938
|
0.00019
|
NM_001492.6(GDF1):c.599G>A (p.Gly200Asp)
|
rs573559104
|
0.00015
|
NM_021005.4(NR2F2):c.970+18C>A
|
rs373488143
|
0.00015
|
NM_021005.4(NR2F2):c.1242A>G (p.Gln414=)
|
rs140022547
|
0.00009
|
NM_021005.4(NR2F2):c.357G>C (p.Arg119=)
|
rs137861279
|
0.00007
|
NM_001292034.3(TAB2):c.1535C>G (p.Ala512Gly)
|
rs763663979
|
0.00004
|
NM_001292034.3(TAB2):c.21A>G (p.Gln7=)
|
rs553008331
|
0.00004
|
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala)
|
rs901462929
|
0.00004
|
NM_021005.4(NR2F2):c.264C>G (p.Gly88=)
|
rs757445345
|
0.00004
|
NM_021005.4(NR2F2):c.843C>T (p.Ser281=)
|
rs1006491294
|
0.00003
|
NM_001292034.3(TAB2):c.1025G>A (p.Arg342His)
|
rs750390016
|
0.00002
|
NM_021005.4(NR2F2):c.443-5C>T
|
rs374487006
|
0.00002
|
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser)
|
rs1236325542
|
0.00002
|
NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser)
|
rs267607101
|
0.00001
|
NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys)
|
rs267607100
|
0.00001
|
NM_001492.6(GDF1):c.137G>C (p.Arg46Pro)
|
rs2055941159
|
0.00001
|
NM_001492.6(GDF1):c.596T>C (p.Leu199Pro)
|
rs868026629
|
0.00001
|
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn)
|
rs1429110767
|
0.00001
|
NM_001719.3(BMP7):c.523C>T (p.Arg175Trp)
|
rs1476787716
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_021005.4(NR2F2):c.1206C>T (p.Ser402=)
|
rs757077299
|
0.00001
|
NM_021005.4(NR2F2):c.789C>T (p.Pro263=)
|
rs1174849712
|
0.00001
|
NM_021005.4(NR2F2):c.882C>T (p.Ile294=)
|
rs1163679972
|
0.00001
|
NM_021005.4(NR2F2):c.918C>T (p.His306=)
|
rs751816358
|
0.00001
|
NM_021005.4(NR2F2):c.971-11C>T
|
rs1208596248
|
0.00001
|
NM_080473.5(GATA5):c.695G>A (p.Arg232His)
|
rs753656900
|
0.00001
|
GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1
|
|
|
NC_000015.9:g.(?_96875335)_(96880851_?)dup
|
|
|
NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)
|
|
|
NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)
|
|
|
NM_001292034.3(TAB2):c.1056del (p.Ser353fs)
|
|
|
NM_001292034.3(TAB2):c.1104C>G (p.Tyr368Ter)
|
rs2114886711
|
|
NM_001292034.3(TAB2):c.1105dup (p.Ile369fs)
|
|
|
NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu)
|
rs71568273
|
|
NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter)
|
rs1554263321
|
|
NM_001292034.3(TAB2):c.1340_1341del (p.Ser447fs)
|
rs2114887873
|
|
NM_001292034.3(TAB2):c.1354C>T (p.Arg452Ter)
|
rs2114887942
|
|
NM_001292034.3(TAB2):c.1398dup (p.Thr467fs)
|
rs1781524947
|
|
NM_001292034.3(TAB2):c.1433_1448del (p.Pro478fs)
|
|
|
NM_001292034.3(TAB2):c.1462dup (p.Thr488fs)
|
|
|
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter)
|
rs1562443558
|
|
NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter)
|
rs1562443558
|
|
NM_001292034.3(TAB2):c.1501G>T (p.Glu501Ter)
|
|
|
NM_001292034.3(TAB2):c.1522del (p.Asp508fs)
|
|
|
NM_001292034.3(TAB2):c.1526del (p.Pro509fs)
|
rs1781533816
|
|
NM_001292034.3(TAB2):c.1547_1551del (p.Arg516fs)
|
|
|
NM_001292034.3(TAB2):c.1572del (p.Ser524fs)
|
|
|
NM_001292034.3(TAB2):c.1580C>T (p.Ser527Phe)
|
|
|
NM_001292034.3(TAB2):c.1591_1593delinsTTTT (p.Ala531fs)
|
|
|
NM_001292034.3(TAB2):c.1739C>A (p.Ser580Ter)
|
|
|
NM_001292034.3(TAB2):c.1764+1G>A
|
rs1782223593
|
|
NM_001292034.3(TAB2):c.17A>G (p.His6Arg)
|
|
|
NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)
|
|
|
NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr)
|
rs1562459581
|
|
NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys)
|
rs1781470267
|
|
NM_001292034.3(TAB2):c.441del (p.Ala148fs)
|
rs1583139711
|
|
NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter)
|
rs2114883576
|
|
NM_001292034.3(TAB2):c.473_474del (p.His158fs)
|
|
|
NM_001292034.3(TAB2):c.548C>T (p.Pro183Leu)
|
|
|
NM_001292034.3(TAB2):c.622_626del (p.Pro208fs)
|
rs1781486601
|
|
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)
|
rs1479104927
|
|
NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter)
|
rs2114885325
|
|
NM_001292034.3(TAB2):c.878del (p.Ser293fs)
|
rs1554263268
|
|
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)
|
rs768027510
|
|
NM_001492.6(GDF1):c.380G>A (p.Trp127Ter)
|
rs900625437
|
|
NM_001492.6(GDF1):c.537del (p.Pro180fs)
|
|
|
NM_001492.6(GDF1):c.649C>G (p.Leu217Val)
|
rs2055909840
|
|
NM_005901.6(SMAD2):c.237-12A>G
|
rs1402819968
|
|
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)
|
rs1064793873
|
|
NM_005901.6(SMAD2):c.784+1G>A
|
rs397509416
|
|
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys)
|
rs367537998
|
|
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser)
|
rs797044882
|
|
NM_015103.3(PLXND1):c.2240C>T (p.Thr747Met)
|
|
|
NM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)
|
|
|
NM_015103.3(PLXND1):c.2870C>T (p.Pro957Leu)
|
|
|
NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)
|
|
|
NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)
|
|
|
NM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)
|
|
|
NM_015103.3(PLXND1):c.880_881del (p.Gln294fs)
|
|
|
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu)
|
rs1474147673
|
|
NM_021005.4(NR2F2):c.1008C>T (p.Ser336=)
|
rs767004289
|
|
NM_021005.4(NR2F2):c.1019del (p.Lys340fs)
|
|
|
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr)
|
rs587777371
|
|
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile)
|
rs1596432381
|
|
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)
|
|
|
NM_021005.4(NR2F2):c.1234G>T (p.Ala412Ser)
|
|
|
NM_021005.4(NR2F2):c.150C>T (p.Ser50=)
|
|
|
NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)
|
|
|
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg)
|
rs1381103214
|
|
NM_021005.4(NR2F2):c.210G>A (p.Lys70=)
|
rs1899171814
|
|
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)
|
rs780808943
|
|
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter)
|
rs1899172049
|
|
NM_021005.4(NR2F2):c.237C>T (p.Cys79=)
|
|
|
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter)
|
rs1555447012
|
|
NM_021005.4(NR2F2):c.269A>G (p.His90Arg)
|
rs2141166925
|
|
NM_021005.4(NR2F2):c.276C>T (p.Gly92=)
|
rs1332151769
|
|
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu)
|
rs1899174214
|
|
NM_021005.4(NR2F2):c.36G>A (p.Gln12=)
|
rs2141166624
|
|
NM_021005.4(NR2F2):c.414G>A (p.Lys138=)
|
rs1373249033
|
|
NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)
|
|
|
NM_021005.4(NR2F2):c.456C>T (p.Gly152=)
|
|
|
NM_021005.4(NR2F2):c.468G>T (p.Pro156=)
|
rs746596432
|
|
NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg)
|
rs2141169030
|
|
NM_021005.4(NR2F2):c.558dup (p.Arg187fs)
|
|
|
NM_021005.4(NR2F2):c.576del (p.Thr193fs)
|
|
|
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter)
|
rs2141169116
|
|
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile)
|
rs587777372
|
|
NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)
|
|
|
NM_021005.4(NR2F2):c.648C>A (p.Ala216=)
|
|
|
NM_021005.4(NR2F2):c.671T>A (p.Val224Asp)
|
rs1899253390
|
|
NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp)
|
rs1899253743
|
|
NM_021005.4(NR2F2):c.684del (p.Asn229fs)
|
|
|
NM_021005.4(NR2F2):c.687C>T (p.Asn229=)
|
|
|
NM_021005.4(NR2F2):c.691C>A (p.Pro231Thr)
|
rs2141169249
|
|
NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter)
|
rs878855066
|
|
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter)
|
rs1567138573
|
|
NM_021005.4(NR2F2):c.819C>T (p.Ala273=)
|
|
|
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs)
|
rs1555446983
|
|
NM_021005.4(NR2F2):c.856dup (p.Val286fs)
|
rs886041730
|
|
NM_021005.4(NR2F2):c.879G>A (p.Arg293=)
|
|
|
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn)
|
rs1899261470
|
|
NM_021005.4(NR2F2):c.958C>T (p.Leu320=)
|
rs1596428579
|
|
NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)
|
|
|
NM_021005.4(NR2F2):c.970+12_970+16dup
|
rs563165104
|
|
NM_021005.4(NR2F2):c.970+1G>A
|
rs587777374
|
|
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs)
|
rs1899167019
|
|
NM_021267.5(CERS1):c.*1120G>A
|
rs2145985085
|
|
NM_080473.5(GATA5):c.226G>T (p.Gly76Cys)
|
|
|
NM_080473.5(GATA5):c.405G>T (p.Gly135=)
|
|
|
NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp)
|
rs1555897088
|
|
NM_080473.5(GATA5):c.569T>C (p.Val190Ala)
|
rs782051102
|
|
NM_080473.5(GATA5):c.595C>G (p.Leu199Val)
|
rs1555896779
|
|
NM_080473.5(GATA5):c.598T>G (p.Trp200Gly)
|
rs1555896778
|
|
NM_080473.5(GATA5):c.714C>T (p.Arg238=)
|
|
|
NM_080473.5(GATA5):c.755C>A (p.Thr252Lys)
|
rs143901995
|
|
NM_080473.5(GATA5):c.852G>A (p.Lys284=)
|
rs6587239
|
|
NM_080473.5(GATA5):c.981G>C (p.Ser327=)
|
rs6061243
|
|