NM_181486.4(TBX5):c.148-231G>T
|
rs117427226
|
0.02196
|
NM_181486.4(TBX5):c.147+194G>A
|
rs79101327
|
0.01128
|
NM_181486.4(TBX5):c.982+16C>T
|
rs28730762
|
0.00694
|
NM_181486.4(TBX5):c.-38-237G>T
|
rs143656484
|
0.00449
|
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
|
rs147405081
|
0.00423
|
NM_181486.4(TBX5):c.363-82G>A
|
rs77112291
|
0.00403
|
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_181486.4(TBX5):c.114C>T (p.Ser38=)
|
rs34014008
|
0.00194
|
NM_181486.4(TBX5):c.804C>G (p.Ala268=)
|
rs35110399
|
0.00143
|
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_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_181486.4(TBX5):c.755+35A>G
|
rs199731693
|
0.00046
|
NM_181486.4(TBX5):c.354T>C (p.Asp118=)
|
rs151249768
|
0.00039
|
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_181486.4(TBX5):c.948G>A (p.Glu316=)
|
rs767086503
|
0.00028
|
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser)
|
rs368311885
|
0.00025
|
NM_181486.4(TBX5):c.318T>C (p.Ile106=)
|
rs141457646
|
0.00024
|
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_181486.4(TBX5):c.510+13G>T
|
rs192482520
|
0.00018
|
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_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.1545C>T (p.Ser515=)
|
rs186780790
|
0.00007
|
NM_181486.4(TBX5):c.1293C>G (p.Thr431=)
|
rs143971376
|
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_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_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.363-6A>G
|
rs757819289
|
0.00003
|
NM_181486.4(TBX5):c.57A>G (p.Ala19=)
|
rs567785340
|
0.00003
|
NM_181486.4(TBX5):c.696T>C (p.Phe232=)
|
rs747652988
|
0.00003
|
NM_181486.4(TBX5):c.828C>T (p.Ser276=)
|
rs146908258
|
0.00003
|
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser)
|
rs201637366
|
0.00003
|
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.1230C>T (p.Cys410=)
|
rs1463067493
|
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.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.327C>T (p.Ala109=)
|
rs749667596
|
0.00001
|
NM_181486.4(TBX5):c.456C>T (p.Leu152=)
|
rs775748269
|
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.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.922C>T (p.Pro308Ser)
|
rs760334883
|
0.00001
|
NM_181486.4(TBX5):c.983-10G>C
|
rs766007057
|
0.00001
|
NM_181486.4(TBX5):c.*1477_*1480del
|
rs564562667
|
|
NM_181486.4(TBX5):c.*836A>C
|
rs537303672
|
|
NM_181486.4(TBX5):c.-38-211T>C
|
rs111555728
|
|
NM_181486.4(TBX5):c.101C>T (p.Ala34Val)
|
rs761952835
|
|
NM_181486.4(TBX5):c.1020G>A (p.Lys340=)
|
|
|
NM_181486.4(TBX5):c.1023C>G (p.Pro341=)
|
|
|
NM_181486.4(TBX5):c.102C>A (p.Ala34=)
|
|
|
NM_181486.4(TBX5):c.1077A>G (p.Pro359=)
|
|
|
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
|
|
|
NM_181486.4(TBX5):c.1107G>A (p.Arg369=)
|
|
|
NM_181486.4(TBX5):c.111G>A (p.Lys37=)
|
|
|
NM_181486.4(TBX5):c.1155C>T (p.Pro385=)
|
|
|
NM_181486.4(TBX5):c.1157C>A (p.Pro386His)
|
rs771857554
|
|
NM_181486.4(TBX5):c.1157C>T (p.Pro386Leu)
|
|
|
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
|
|
|
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
|
|
|
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
|
|
|
NM_181486.4(TBX5):c.1200G>A (p.Thr400=)
|
|
|
NM_181486.4(TBX5):c.1206A>G (p.Pro402=)
|
rs763129045
|
|
NM_181486.4(TBX5):c.1224C>T (p.Ser408=)
|
|
|
NM_181486.4(TBX5):c.1233C>T (p.Thr411=)
|
rs188839350
|
|
NM_181486.4(TBX5):c.1243G>A (p.Val415Met)
|
|
|
NM_181486.4(TBX5):c.1245G>A (p.Val415=)
|
|
|
NM_181486.4(TBX5):c.1251C>T (p.Pro417=)
|
rs1868865389
|
|
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
|
|
|
NM_181486.4(TBX5):c.1296G>A (p.Ser432=)
|
rs149474574
|
|
NM_181486.4(TBX5):c.1305G>T (p.Leu435=)
|
|
|
NM_181486.4(TBX5):c.1332C>T (p.Asn444=)
|
|
|
NM_181486.4(TBX5):c.1440C>T (p.Gly480=)
|
|
|
NM_181486.4(TBX5):c.144G>A (p.Gln48=)
|
|
|
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.1488T>C (p.Thr496=)
|
|
|
NM_181486.4(TBX5):c.150C>T (p.Gly50=)
|
|
|
NM_181486.4(TBX5):c.1518C>T (p.His506=)
|
|
|
NM_181486.4(TBX5):c.1524T>C (p.Val508=)
|
|
|
NM_181486.4(TBX5):c.174C>A (p.Leu58=)
|
|
|
NM_181486.4(TBX5):c.216G>A (p.Thr72=)
|
|
|
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
|
|
|
NM_181486.4(TBX5):c.231C>T (p.Thr77=)
|
|
|
NM_181486.4(TBX5):c.242+15T>C
|
|
|
NM_181486.4(TBX5):c.242+18G>A
|
|
|
NM_181486.4(TBX5):c.243-13C>T
|
|
|
NM_181486.4(TBX5):c.243-20_243-5del
|
rs2136418321
|
|
NM_181486.4(TBX5):c.243-7C>G
|
rs1593881450
|
|
NM_181486.4(TBX5):c.246G>T (p.Arg82=)
|
|
|
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
|
|
|
NM_181486.4(TBX5):c.294G>T (p.Thr98=)
|
|
|
NM_181486.4(TBX5):c.30G>T (p.Leu10=)
|
|
|
NM_181486.4(TBX5):c.362+13G>T
|
|
|
NM_181486.4(TBX5):c.362+233C>T
|
rs112645043
|
|
NM_181486.4(TBX5):c.362+84_362+86dup
|
rs55980450
|
|
NM_181486.4(TBX5):c.362+97_362+98del
|
rs55980450
|
|
NM_181486.4(TBX5):c.372G>A (p.Thr124=)
|
|
|
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
|
|
|
NM_181486.4(TBX5):c.408C>T (p.Tyr136=)
|
|
|
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
|
|
|
NM_181486.4(TBX5):c.438G>C (p.Ala146=)
|
|
|
NM_181486.4(TBX5):c.510+8C>A
|
|
|
NM_181486.4(TBX5):c.511-9del
|
rs775035000
|
|
NM_181486.4(TBX5):c.51T>C (p.Pro17=)
|
|
|
NM_181486.4(TBX5):c.537C>T (p.Tyr179=)
|
|
|
NM_181486.4(TBX5):c.555C>T (p.Ile185=)
|
rs142631741
|
|
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.600G>A (p.Ala200=)
|
|
|
NM_181486.4(TBX5):c.609T>C (p.Thr203=)
|
|
|
NM_181486.4(TBX5):c.618T>C (p.Phe206=)
|
|
|
NM_181486.4(TBX5):c.627T>C (p.Thr209=)
|
|
|
NM_181486.4(TBX5):c.630G>A (p.Ala210=)
|
|
|
NM_181486.4(TBX5):c.657C>T (p.Asn219=)
|
|
|
NM_181486.4(TBX5):c.663+16A>G
|
rs752606041
|
|
NM_181486.4(TBX5):c.664-274del
|
rs35970834
|
|
NM_181486.4(TBX5):c.6C>G (p.Ala2=)
|
|
|
NM_181486.4(TBX5):c.717T>C (p.Ser239=)
|
|
|
NM_181486.4(TBX5):c.723C>T (p.Asp241=)
|
|
|
NM_181486.4(TBX5):c.730C>T (p.Leu244=)
|
|
|
NM_181486.4(TBX5):c.736A>C (p.Arg246=)
|
|
|
NM_181486.4(TBX5):c.736A>G (p.Arg246Gly)
|
|
|
NM_181486.4(TBX5):c.753A>G (p.Gln251=)
|
|
|
NM_181486.4(TBX5):c.755+11G>A
|
|
|
NM_181486.4(TBX5):c.755+17del
|
rs1412151452
|
|
NM_181486.4(TBX5):c.804C>T (p.Ala268=)
|
rs35110399
|
|
NM_181486.4(TBX5):c.816T>C (p.Ser272=)
|
|
|
NM_181486.4(TBX5):c.819T>C (p.Pro273=)
|
|
|
NM_181486.4(TBX5):c.842T>G (p.Leu281Arg)
|
|
|
NM_181486.4(TBX5):c.849C>T (p.Thr283=)
|
|
|
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
|
|
|
NM_181486.4(TBX5):c.864G>A (p.Gly288=)
|
|
|
NM_181486.4(TBX5):c.867C>G (p.Ser289=)
|
|
|
NM_181486.4(TBX5):c.894C>T (p.Ser298=)
|
|
|
NM_181486.4(TBX5):c.906G>A (p.Gln302=)
|
|
|
NM_181486.4(TBX5):c.914T>C (p.Leu305Pro)
|
|
|
NM_181486.4(TBX5):c.930A>G (p.Pro310=)
|
|
|
NM_181486.4(TBX5):c.936A>G (p.Pro312=)
|
|
|
NM_181486.4(TBX5):c.937C>T (p.Leu313=)
|
|
|
NM_181486.4(TBX5):c.93G>C (p.Ala31=)
|
|
|
NM_181486.4(TBX5):c.93G>T (p.Ala31=)
|
|
|
NM_181486.4(TBX5):c.982+11T>G
|
|
|
NM_181486.4(TBX5):c.982+14C>T
|
|
|
NM_181486.4(TBX5):c.982+20G>A
|
rs1231635306
|
|
NM_181486.4(TBX5):c.983-13C>T
|
|
|
NM_181486.4(TBX5):c.983-8C>T
|
|
|
NM_181486.4(TBX5):c.996C>T (p.Ser332=)
|
|
|
NM_181486.4(TBX5):c.99G>A (p.Gly33=)
|
|
|