NM_181486.4(TBX5):c.*1101A>G
|
rs6489956
|
0.80110
|
NM_181486.4(TBX5):c.663+36G>T
|
rs2236017
|
0.54802
|
NM_181486.4(TBX5):c.*77A>G
|
rs28730761
|
0.07861
|
NM_000192.3(TBX5):c.-648C>G
|
rs79465718
|
0.04439
|
NM_000192.3(TBX5):c.-305C>A
|
rs78462880
|
0.04438
|
NM_181486.4(TBX5):c.309C>T (p.Leu103=)
|
rs28730763
|
0.04319
|
NM_000192.3(TBX5):c.-39+12C>A
|
rs11837917
|
0.04016
|
NM_181486.4(TBX5):c.*384T>C
|
rs12426660
|
0.01798
|
NM_181486.4(TBX5):c.1281C>T (p.Ser427=)
|
rs6489957
|
0.01766
|
NM_181486.4(TBX5):c.*812C>T
|
rs143511878
|
0.01571
|
NM_181486.4(TBX5):c.*601G>A
|
rs116382074
|
0.01559
|
NM_181486.4(TBX5):c.*40A>G
|
rs10850326
|
0.01186
|
NM_000192.3(TBX5):c.-545C>T
|
rs115599823
|
0.00666
|
NM_000192.3(TBX5):c.-586C>G
|
rs76464487
|
0.00499
|
NM_000192.3(TBX5):c.-449G>C
|
rs148864662
|
0.00454
|
NM_181486.4(TBX5):c.*673C>T
|
rs140532076
|
0.00449
|
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.*480G>A
|
rs569991822
|
0.00296
|
NM_000192.3(TBX5):c.-481T>C
|
rs575879858
|
0.00277
|
NM_000192.3(TBX5):c.-664G>A
|
rs186960328
|
0.00248
|
NM_000192.3(TBX5):c.-377C>T
|
rs372524573
|
0.00245
|
NM_181486.4(TBX5):c.*121A>G
|
rs112051831
|
0.00220
|
NM_181486.4(TBX5):c.114C>T (p.Ser38=)
|
rs34014008
|
0.00194
|
NM_181486.4(TBX5):c.*909A>G
|
rs184360838
|
0.00190
|
NM_181486.4(TBX5):c.*524A>T
|
rs76799455
|
0.00145
|
NM_181486.4(TBX5):c.804C>G (p.Ala268=)
|
rs35110399
|
0.00143
|
NM_000192.3(TBX5):c.-255G>T
|
rs186472610
|
0.00100
|
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)
|
rs147710408
|
0.00086
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
NM_181486.4(TBX5):c.*1188T>C
|
rs141223729
|
0.00051
|
NM_181486.4(TBX5):c.*306C>T
|
rs571901755
|
0.00047
|
NM_181486.4(TBX5):c.354T>C (p.Asp118=)
|
rs151249768
|
0.00039
|
NM_181486.4(TBX5):c.*1373G>T
|
rs192527148
|
0.00038
|
NM_181486.4(TBX5):c.*739T>C
|
rs117414057
|
0.00037
|
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)
|
rs143068551
|
0.00030
|
NM_181486.4(TBX5):c.*960A>G
|
rs566107581
|
0.00024
|
NM_181486.4(TBX5):c.318T>C (p.Ile106=)
|
rs141457646
|
0.00024
|
NM_181486.4(TBX5):c.68C>A (p.Pro23His)
|
rs141609745
|
0.00019
|
NM_181486.4(TBX5):c.*795G>T
|
rs886048991
|
0.00016
|
NM_181486.4(TBX5):c.*1446T>G
|
rs576867150
|
0.00014
|
NM_181486.4(TBX5):c.*563G>A
|
rs78058633
|
0.00013
|
NM_181486.4(TBX5):c.77C>T (p.Ser26Leu)
|
rs1085307848
|
0.00010
|
NM_181486.4(TBX5):c.*1344G>A
|
rs1332937417
|
0.00009
|
NM_181486.4(TBX5):c.*1511G>A
|
rs886048983
|
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_181486.4(TBX5):c.1233C>G (p.Thr411=)
|
rs188839350
|
0.00008
|
NM_181486.4(TBX5):c.1116G>A (p.Ser372=)
|
rs763827720
|
0.00007
|
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.786C>T (p.Thr262=)
|
rs375955080
|
0.00006
|
NM_000192.3(TBX5):c.-132G>A
|
rs1280865262
|
0.00005
|
NM_181486.4(TBX5):c.*1071C>T
|
rs890525823
|
0.00005
|
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn)
|
rs147077037
|
0.00005
|
NM_181486.4(TBX5):c.*702T>C
|
rs759107305
|
0.00004
|
NM_181486.4(TBX5):c.*875A>C
|
rs886048987
|
0.00004
|
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys)
|
rs201071418
|
0.00004
|
NM_181486.4(TBX5):c.*277C>T
|
rs886048995
|
0.00003
|
NM_181486.4(TBX5):c.*4G>T
|
rs745708633
|
0.00003
|
NM_181486.4(TBX5):c.1064G>A (p.Arg355His)
|
rs145784562
|
0.00003
|
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp)
|
rs377532269
|
0.00003
|
NM_181486.4(TBX5):c.145C>A (p.Gln49Lys)
|
rs104894383
|
0.00003
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
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.618T>G (p.Phe206Leu)
|
rs533581420
|
0.00003
|
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser)
|
rs201637366
|
0.00003
|
NM_000192.3(TBX5):c.-403G>C
|
rs985905532
|
0.00002
|
NM_181486.4(TBX5):c.*1111T>C
|
rs886048985
|
0.00002
|
NM_181486.4(TBX5):c.*1331T>G
|
rs535072534
|
0.00002
|
NM_000192.3(TBX5):c.-153T>G
|
rs1872328985
|
0.00001
|
NM_000192.3(TBX5):c.-503C>T
|
rs893809666
|
0.00001
|
NM_181486.4(TBX5):c.*129A>G
|
rs28730760
|
0.00001
|
NM_181486.4(TBX5):c.*147T>C
|
rs886048996
|
0.00001
|
NM_181486.4(TBX5):c.*718G>A
|
rs886048993
|
0.00001
|
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln)
|
rs557758851
|
0.00001
|
NM_181486.4(TBX5):c.1449G>A (p.Gln483=)
|
rs117965596
|
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.710G>A (p.Arg237Gln)
|
rs104894378
|
0.00001
|
NM_181486.4(TBX5):c.729G>T (p.Glu243Asp)
|
rs186183947
|
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.922C>T (p.Pro308Ser)
|
rs760334883
|
0.00001
|
GRCh37/hg19 12q24.21(chr12:114791609-114793234)
|
|
|
NC_000012.11:g.114795705_114844082dup
|
|
|
NM_000192.3(TBX5):c.-107T>C
|
rs947021363
|
|
NM_000192.3(TBX5):c.-167G>A
|
rs146645348
|
|
NM_000192.3(TBX5):c.-347C>G
|
rs886049000
|
|
NM_000192.3(TBX5):c.-42G>A
|
rs1287268402
|
|
NM_000192.3(TBX5):c.-487G>A
|
rs1872352803
|
|
NM_000192.3(TBX5):c.-637G>A
|
rs886049001
|
|
NM_000192.3:c.(362+1_363-1)_(*1602_?)del
|
|
|
NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del
|
|
|
NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del
|
|
|
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del
|
|
|
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup
|
|
|
NM_000192.3:c.(982+1_983-1)_(*1602_?)del
|
|
|
NM_000192.3:c.(?_-38)_(242+1_243-1)dup
|
|
|
NM_000192.3:c.(?_-667)_(*1602_?)del
|
|
|
NM_000192.3:c.(?_-667)_(755+1_756-1)dup
|
|
|
NM_000192.3:c.1033_1034dupGA
|
|
|
NM_000192.3:c.67_81delins
|
|
|
NM_000192.3:c.946C>T
|
|
|
NM_181486.4(TBX5):c.*1196T>C
|
rs886048984
|
|
NM_181486.4(TBX5):c.*1385del
|
rs35534655
|
|
NM_181486.4(TBX5):c.*1477_*1480del
|
rs564562667
|
|
NM_181486.4(TBX5):c.*1548C>T
|
rs1868723623
|
|
NM_181486.4(TBX5):c.*439T>A
|
rs1868799935
|
|
NM_181486.4(TBX5):c.*545C>G
|
rs886048994
|
|
NM_181486.4(TBX5):c.*717C>T
|
rs148346089
|
|
NM_181486.4(TBX5):c.*755_*759delinsGAATAAGATGCTGGGCTCTTATTCAGCTGG
|
rs886048992
|
|
NM_181486.4(TBX5):c.*806C>G
|
rs886048990
|
|
NM_181486.4(TBX5):c.*836A>C
|
rs537303672
|
|
NM_181486.4(TBX5):c.*852C>T
|
rs886048989
|
|
NM_181486.4(TBX5):c.*856T>A
|
rs886048988
|
|
NM_181486.4(TBX5):c.*926T>C
|
rs886048986
|
|
NM_181486.4(TBX5):c.*97G>A
|
rs883079
|
|
NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter)
|
rs1565923887
|
|
NM_181486.4(TBX5):c.105del (p.Ser36fs)
|
rs1057516042
|
|
NM_181486.4(TBX5):c.105dup (p.Ser36fs)
|
rs1057516042
|
|
NM_181486.4(TBX5):c.1074del (p.Pro359fs)
|
|
|
NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter)
|
rs765204502
|
|
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu)
|
rs759607221
|
|
NM_181486.4(TBX5):c.1158dup (p.Ser387fs)
|
rs1064795870
|
|
NM_181486.4(TBX5):c.119C>A (p.Ser40Ter)
|
rs903933027
|
|
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter)
|
rs377649723
|
|
NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter)
|
rs756049331
|
|
NM_181486.4(TBX5):c.1303del (p.Leu435fs)
|
|
|
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)
|
|
|
NM_181486.4(TBX5):c.1346del (p.Gln449fs)
|
|
|
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile)
|
rs971831243
|
|
NM_181486.4(TBX5):c.13G>A (p.Asp5Asn)
|
rs886048999
|
|
NM_181486.4(TBX5):c.148-2A>G
|
rs1565942511
|
|
NM_181486.4(TBX5):c.148-3C>A
|
|
|
NM_181486.4(TBX5):c.161T>C (p.Ile54Thr)
|
rs104894384
|
|
NM_181486.4(TBX5):c.166del (p.Val56fs)
|
rs2136421561
|
|
NM_181486.4(TBX5):c.174C>T (p.Leu58=)
|
rs886048998
|
|
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter)
|
rs1555226581
|
|
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter)
|
rs104894377
|
|
NM_181486.4(TBX5):c.238G>A (p.Gly80Arg)
|
rs104894381
|
|
NM_181486.4(TBX5):c.242+4A>G
|
rs886044059
|
|
NM_181486.4(TBX5):c.242+5G>A
|
rs1555226575
|
|
NM_181486.4(TBX5):c.242G>T (p.Arg81Met)
|
|
|
NM_181486.4(TBX5):c.246_249del (p.Met83fs)
|
rs1565941587
|
|
NM_181486.4(TBX5):c.253C>T (p.Pro85Ser)
|
rs1565941579
|
|
NM_181486.4(TBX5):c.254C>T (p.Pro85Leu)
|
rs1565941576
|
|
NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter)
|
rs767197919
|
|
NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)
|
|
|
NM_181486.4(TBX5):c.262A>T (p.Lys88Ter)
|
rs2136418232
|
|
NM_181486.4(TBX5):c.295A>T (p.Lys99Ter)
|
rs1565941529
|
|
NM_181486.4(TBX5):c.336del (p.His112fs)
|
|
|
NM_181486.4(TBX5):c.337A>T (p.Arg113Ter)
|
rs1871662633
|
|
NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter)
|
rs1565941422
|
|
NM_181486.4(TBX5):c.353A>G (p.Asp118Gly)
|
|
|
NM_181486.4(TBX5):c.362+1G>A
|
rs1871659583
|
|
NM_181486.4(TBX5):c.362G>T (p.Trp121Leu)
|
|
|
NM_181486.4(TBX5):c.372G>C (p.Thr124=)
|
rs778117002
|
|
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys)
|
rs763125466
|
|
NM_181486.4(TBX5):c.394C>A (p.Pro132Thr)
|
|
|
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter)
|
rs104894379
|
|
NM_181486.4(TBX5):c.416del (p.Pro139fs)
|
rs1593880204
|
|
NM_181486.4(TBX5):c.426del (p.Ala143fs)
|
|
|
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter)
|
rs1555226315
|
|
NM_181486.4(TBX5):c.454C>G (p.Leu152Val)
|
rs2136416738
|
|
NM_181486.4(TBX5):c.457dup (p.Val153fs)
|
|
|
NM_181486.4(TBX5):c.496del (p.Asp166fs)
|
|
|
NM_181486.4(TBX5):c.500del (p.Pro167fs)
|
|
|
NM_181486.4(TBX5):c.510+1G>T
|
rs1565940841
|
|
NM_181486.4(TBX5):c.510+5G>A
|
rs1555226301
|
|
NM_181486.4(TBX5):c.510+5G>C
|
rs1555226301
|
|
NM_181486.4(TBX5):c.520A>G (p.Asn174Asp)
|
rs1565939347
|
|
NM_181486.4(TBX5):c.529del (p.His177fs)
|
|
|
NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter)
|
rs1565939337
|
|
NM_181486.4(TBX5):c.538del (p.Gln180fs)
|
rs1593876058
|
|
NM_181486.4(TBX5):c.557T>G (p.Val186Gly)
|
rs1555226019
|
|
NM_181486.4(TBX5):c.559_572dup (p.Asn191fs)
|
rs1565939303
|
|
NM_181486.4(TBX5):c.564G>A (p.Ala188=)
|
rs745378130
|
|
NM_181486.4(TBX5):c.585C>T (p.Gly195=)
|
rs753457483
|
|
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)
|
rs886041247
|
|
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
|
|
|
NM_181486.4(TBX5):c.634A>G (p.Ile212Val)
|
|
|
NM_181486.4(TBX5):c.635_636del (p.Ile212fs)
|
|
|
NM_181486.4(TBX5):c.663+4A>T
|
|
|
NM_181486.4(TBX5):c.664-11C>T
|
rs771400478
|
|
NM_181486.4(TBX5):c.664-2A>G
|
rs1565935458
|
|
NM_181486.4(TBX5):c.664-342G>T
|
|
|
NM_181486.4(TBX5):c.668C>T (p.Thr223Met)
|
rs1555225344
|
|
NM_181486.4(TBX5):c.672del (p.Gln224fs)
|
|
|
NM_181486.4(TBX5):c.674T>G (p.Leu225Ter)
|
rs1565935432
|
|
NM_181486.4(TBX5):c.677A>G (p.Lys226Arg)
|
rs1565935426
|
|
NM_181486.4(TBX5):c.680_683del (p.Ile227fs)
|
rs1565935410
|
|
NM_181486.4(TBX5):c.694T>C (p.Phe232Leu)
|
|
|
NM_181486.4(TBX5):c.694T>G (p.Phe232Val)
|
rs1565935405
|
|
NM_181486.4(TBX5):c.703G>T (p.Gly235Ter)
|
rs1565935397
|
|
NM_181486.4(TBX5):c.704G>A (p.Gly235Glu)
|
rs1870765797
|
|
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)
|
rs104894382
|
|
NM_181486.4(TBX5):c.713dup (p.Ser239fs)
|
|
|
NM_181486.4(TBX5):c.728_729del (p.Glu243fs)
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|
|
NM_181486.4(TBX5):c.73_74insT (p.Asp25fs)
|
rs1565943328
|
|
NM_181486.4(TBX5):c.755+2T>C
|
rs1565935314
|
|
NM_181486.4(TBX5):c.755G>C (p.Ser252Thr)
|
rs863223776
|
|
NM_181486.4(TBX5):c.756-2A>G
|
rs1869545659
|
|
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)
|
rs863223788
|
|
NM_181486.4(TBX5):c.845C>T (p.Ser282Phe)
|
rs1565927794
|
|
NM_181486.4(TBX5):c.846C>T (p.Ser282=)
|
rs886048997
|
|
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)
|
rs1565927747
|
|
NM_181486.4(TBX5):c.879T>A (p.Cys293Ter)
|
rs1565927740
|
|
NM_181486.4(TBX5):c.905del (p.Gln302fs)
|
rs1869529188
|
|
NM_181486.4(TBX5):c.924del (p.Asn309fs)
|
|
|
NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter)
|
rs1565927664
|
|
NM_181486.4(TBX5):c.943C>T (p.Gln315Ter)
|
rs1565927645
|
|
NM_181486.4(TBX5):c.978del (p.Glu328fs)
|
|
|