|
NM_001172509.2(SATB2):c.1543-4A>C
|
rs10153730
|
0.93908
|
|
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074
|
0.84910
|
|
NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln)
|
rs1801376
|
0.72576
|
|
NM_001211.6(BUB1B):c.2143+15C>T
|
rs11630664
|
0.46333
|
|
NM_000057.4(BLM):c.2555+7T>C
|
rs3815003
|
0.37072
|
|
NM_022455.5(NSD1):c.1482C>T (p.Cys494=)
|
rs1363405
|
0.36334
|
|
NM_001379200.1(TBX1):c.691C>T (p.Leu231=)
|
rs2301558
|
0.34251
|
|
NM_024426.6(WT1):c.213G>T (p.Pro71=)
|
rs2234582
|
0.31689
|
|
NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly)
|
rs644799
|
0.28044
|
|
NM_001211.6(BUB1B):c.1046= (p.Arg349=)
|
rs1801376
|
0.27424
|
|
NM_024426.6(WT1):c.887+16G>A
|
rs1799933
|
0.26810
|
|
NC_000022.11:g.19755901C>T
|
rs41260844
|
0.23484
|
|
NM_001211.6(BUB1B):c.1164G>A (p.Ala388=)
|
rs1047130
|
0.22814
|
|
NM_001379200.1(TBX1):c.960A>G (p.Ala320=)
|
rs41298840
|
0.17709
|
|
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)
|
rs72646967
|
0.17704
|
|
NM_001379200.1(TBX1):c.447T>C (p.Phe149=)
|
rs41298814
|
0.17676
|
|
NM_000057.4(BLM):c.3102G>A (p.Thr1034=)
|
rs2227933
|
0.17570
|
|
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=)
|
rs11740250
|
0.16701
|
|
NM_024426.6(WT1):c.1122A>G (p.Arg374=)
|
rs16754
|
0.16617
|
|
NR_120546.1(WT1-AS):n.1873G>A
|
rs6508
|
0.16158
|
|
NM_000057.4(BLM):c.3945C>T (p.Leu1315=)
|
rs1063147
|
0.15526
|
|
NM_000057.4(BLM):c.3531C>A (p.Ala1177=)
|
rs2227934
|
0.15517
|
|
NM_024426.6(WT1):c.345C>T (p.Pro115=)
|
rs1799925
|
0.15374
|
|
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro)
|
rs28932178
|
0.15259
|
|
NM_001211.6(BUB1B):c.282G>A (p.Lys94=)
|
rs1801389
|
0.13756
|
|
NM_024426.6(WT1):c.609C>T (p.Asn203=)
|
rs2234583
|
0.13287
|
|
NM_022455.5(NSD1):c.1749G>A (p.Glu583=)
|
rs3733874
|
0.12785
|
|
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu)
|
rs3733875
|
0.12636
|
|
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=)
|
rs28932181
|
0.10490
|
|
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=)
|
rs13054377
|
0.09863
|
|
NM_001211.6(BUB1B):c.3099A>G (p.Lys1033=)
|
rs35611758
|
0.08840
|
|
NM_001211.6(BUB1B):c.1853T>C (p.Val618Ala)
|
rs1801528
|
0.08536
|
|
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)
|
rs7167216
|
0.08093
|
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
|
NM_001211.6(BUB1B):c.9G>T (p.Ala3=)
|
rs7168394
|
0.05938
|
|
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile)
|
rs35848863
|
0.04785
|
|
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr)
|
rs34165241
|
0.04781
|
|
NM_024426.6(WT1):c.1074A>G (p.Gln358=)
|
rs2234590
|
0.04693
|
|
NM_080647.1(TBX1):c.-882C>T
|
rs41298629
|
0.03856
|
|
NM_001211.6(BUB1B):c.1170G>C (p.Glu390Asp)
|
rs1017842
|
0.03695
|
|
NM_014679.5(CEP57):c.753G>A (p.Pro251=)
|
rs11742
|
0.03344
|
|
NM_014679.5(CEP57):c.798A>G (p.Pro266=)
|
rs61903295
|
0.02940
|
|
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)
|
rs28932179
|
0.02602
|
|
NM_001211.6(BUB1B):c.2523C>T (p.Cys841=)
|
rs34999621
|
0.02415
|
|
NM_001211.6(BUB1B):c.1623T>C (p.Asn541=)
|
rs1129352
|
0.02405
|
|
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
|
rs56079734
|
0.02335
|
|
NM_001379200.1(TBX1):c.324G>A (p.Ala108=)
|
rs72646953
|
0.02309
|
|
NM_001211.6(BUB1B):c.2856C>T (p.Asp952=)
|
rs1802286
|
0.02238
|
|
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr)
|
rs78247455
|
0.02182
|
|
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr)
|
rs28932177
|
0.01809
|
|
NM_001378120.1(MBD5):c.2519-20T>G
|
rs775650772
|
0.01348
|
|
NM_001379200.1(TBX1):c.102G>T (p.Gly34=)
|
rs72646952
|
0.01097
|
|
NM_000057.4(BLM):c.419A>G (p.Glu140Gly)
|
rs35886055
|
0.00958
|
|
NM_014679.5(CEP57):c.807+3G>A
|
rs181776180
|
0.00725
|
|
NM_022455.5(NSD1):c.1515T>C (p.Asn505=)
|
rs114747882
|
0.00694
|
|
NM_024426.6(WT1):c.785-20G>T
|
rs5030168
|
0.00663
|
|
NM_001378120.1(MBD5):c.2519-18T>G
|
rs555177897
|
0.00625
|
|
NM_014679.5(CEP57):c.333G>C (p.Gln111His)
|
rs117321017
|
0.00613
|
|
NM_001378120.1(MBD5):c.1596A>G (p.Val532=)
|
rs114611333
|
0.00588
|
|
NM_001211.6(BUB1B):c.348T>C (p.Tyr116=)
|
rs28989189
|
0.00587
|
|
NM_000057.4(BLM):c.2075-12G>T
|
rs28385027
|
0.00541
|
|
NM_000057.4(BLM):c.3960C>T (p.Pro1320=)
|
rs56009845
|
0.00502
|
|
NM_000057.4(BLM):c.615G>A (p.Lys205=)
|
rs28903082
|
0.00496
|
|
NM_022455.5(NSD1):c.1792T>C (p.Leu598=)
|
rs28932176
|
0.00477
|
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
|
NM_014679.5(CEP57):c.979A>G (p.Ile327Val)
|
rs35604386
|
0.00453
|
|
NM_022455.5(NSD1):c.2169C>T (p.Thr723=)
|
rs11948062
|
0.00453
|
|
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser)
|
rs116520623
|
0.00445
|
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
|
NM_001378120.1(MBD5):c.297A>G (p.Leu99=)
|
rs77213206
|
0.00431
|
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
|
NM_000057.4(BLM):c.1122T>C (p.His374=)
|
rs28385009
|
0.00382
|
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
|
NM_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser)
|
rs34998711
|
0.00350
|
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
|
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)
|
rs116413446
|
0.00337
|
|
NM_001379200.1(TBX1):c.471C>T (p.Phe157=)
|
rs139776757
|
0.00318
|
|
NM_014679.5(CEP57):c.1036T>C (p.Leu346=)
|
rs34254650
|
0.00314
|
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
|
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=)
|
rs115816749
|
0.00290
|
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
|
NM_024426.6(WT1):c.181C>A (p.Arg61=)
|
rs2234581
|
0.00270
|
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
|
NM_001211.6(BUB1B):c.751+15C>T
|
rs74499462
|
0.00241
|
|
NM_000057.4(BLM):c.2075-14T>C
|
rs28385026
|
0.00240
|
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
|
NM_001379200.1(TBX1):c.519G>A (p.Pro173=)
|
rs111754814
|
0.00226
|
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
|
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met)
|
rs144900277
|
0.00206
|
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
|
NM_024426.6(WT1):c.309C>A (p.Gly103=)
|
rs547333427
|
0.00197
|
|
NM_022455.5(NSD1):c.2295C>T (p.Asn765=)
|
rs146767413
|
0.00196
|
|
NM_001211.6(BUB1B):c.10G>A (p.Val4Met)
|
rs147549987
|
0.00192
|
|
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)
|
rs34921128
|
0.00190
|
|
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)
|
rs77618751
|
0.00188
|
|
NM_024426.6(WT1):c.123G>C (p.Pro41=)
|
rs555140661
|
0.00188
|
|
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=)
|
rs148891711
|
0.00173
|
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
|
NM_014679.5(CEP57):c.677G>A (p.Arg226His)
|
rs143711180
|
0.00168
|
|
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=)
|
rs141436870
|
0.00166
|
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
|
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)
|
rs41298838
|
0.00148
|
|
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)
|
rs149334244
|
0.00145
|
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
|
NM_022455.5(NSD1):c.2835T>C (p.Ser945=)
|
rs145987330
|
0.00133
|
|
NM_022455.5(NSD1):c.6464-20A>G
|
rs371359117
|
0.00130
|
|
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=)
|
rs35692977
|
0.00123
|
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
|
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)
|
rs146020786
|
0.00115
|
|
NM_001379200.1(TBX1):c.954C>T (p.Pro318=)
|
rs201607803
|
0.00114
|
|
NM_002397.5(MEF2C):c.811-13C>T
|
rs201988423
|
0.00113
|
|
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=)
|
rs149056216
|
0.00109
|
|
NM_022455.5(NSD1):c.339C>T (p.Cys113=)
|
rs77093936
|
0.00108
|
|
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser)
|
rs565927787
|
0.00107
|
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
|
NM_001211.6(BUB1B):c.2851-17G>A
|
rs145541980
|
0.00101
|
|
NM_001378120.1(MBD5):c.3754-9T>C
|
rs370173652
|
0.00100
|
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
|
NM_002397.5(MEF2C):c.834+15C>T
|
rs140447603
|
0.00097
|
|
NM_001211.6(BUB1B):c.1230C>T (p.Phe410=)
|
rs61733369
|
0.00094
|
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
|
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298
|
0.00088
|
|
NM_001379200.1(TBX1):c.1037-15C>T
|
rs533097263
|
0.00087
|
|
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln)
|
rs138405802
|
0.00087
|
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
|
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008
|
0.00086
|
|
NM_001211.6(BUB1B):c.772C>T (p.Leu258Phe)
|
rs146387899
|
0.00085
|
|
NM_001379200.1(TBX1):c.90G>T (p.Leu30=)
|
rs770754649
|
0.00081
|
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
|
NM_001211.6(BUB1B):c.1628+9T>C
|
rs112600564
|
0.00075
|
|
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln)
|
rs35934694
|
0.00074
|
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
|
NM_001211.6(BUB1B):c.1539C>T (p.Asn513=)
|
rs140534961
|
0.00071
|
|
NM_014679.5(CEP57):c.1272+7_1272+8del
|
rs1491504497
|
0.00071
|
|
NM_001172509.2(SATB2):c.210C>T (p.Asp70=)
|
rs34311963
|
0.00070
|
|
NM_022455.5(NSD1):c.1980C>T (p.Asn660=)
|
rs140072393
|
0.00069
|
|
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg)
|
rs143028540
|
0.00068
|
|
NM_001172509.2(SATB2):c.2121C>T (p.Ser707=)
|
rs141424911
|
0.00067
|
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
|
NM_001172509.2(SATB2):c.195C>T (p.Val65=)
|
rs147613731
|
0.00065
|
|
NM_001379200.1(TBX1):c.348G>A (p.Val116=)
|
rs148928907
|
0.00064
|
|
NM_002397.5(MEF2C):c.811-12G>A
|
rs149706617
|
0.00064
|
|
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)
|
rs141953425
|
0.00063
|
|
NM_001379200.1(TBX1):c.840C>T (p.Thr280=)
|
rs61730282
|
0.00063
|
|
NM_080647.1(TBX1):c.-39C>T
|
rs72646950
|
0.00063
|
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
|
NM_022455.5(NSD1):c.480C>T (p.Asp160=)
|
rs79427433
|
0.00061
|
|
NM_001211.6(BUB1B):c.1058+11T>G
|
rs369003469
|
0.00059
|
|
NM_001211.6(BUB1B):c.180-3C>T
|
rs200483866
|
0.00059
|
|
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala)
|
rs952890575
|
0.00059
|
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
|
NM_001211.6(BUB1B):c.1003G>C (p.Ala335Pro)
|
rs145184714
|
0.00056
|
|
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)
|
rs150920473
|
0.00054
|
|
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)
|
rs150854966
|
0.00052
|
|
NM_000057.4(BLM):c.465T>C (p.Asp155=)
|
rs185349681
|
0.00051
|
|
NM_014679.5(CEP57):c.410A>C (p.Glu137Ala)
|
rs147712450
|
0.00051
|
|
NM_024426.6(WT1):c.1161A>G (p.Ala387=)
|
rs141834493
|
0.00051
|
|
NM_002397.5(MEF2C):c.402+16A>G
|
rs373582392
|
0.00050
|
|
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)
|
rs28989187
|
0.00049
|
|
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=)
|
rs115145637
|
0.00049
|
|
NM_001379200.1(TBX1):c.540-8C>T
|
rs72646960
|
0.00049
|
|
NM_001211.6(BUB1B):c.573C>A (p.Ser191=)
|
rs138809057
|
0.00048
|
|
NM_014679.5(CEP57):c.572T>A (p.Leu191His)
|
rs150399616
|
0.00048
|
|
NM_000057.4(BLM):c.3020-15C>T
|
rs200210516
|
0.00047
|
|
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile)
|
rs145808884
|
0.00047
|
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
|
NM_000057.4(BLM):c.645C>T (p.Ser215=)
|
rs56218710
|
0.00045
|
|
NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser)
|
rs143232848
|
0.00045
|
|
NM_000057.4(BLM):c.1883-17G>A
|
rs376931510
|
0.00044
|
|
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)
|
rs142059681
|
0.00044
|
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
|
NM_001211.6(BUB1B):c.2385+13C>G
|
rs191736357
|
0.00042
|
|
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)
|
rs139964770
|
0.00042
|
|
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)
|
rs199814669
|
0.00042
|
|
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)
|
rs148159407
|
0.00041
|
|
NM_014679.5(CEP57):c.886-7C>A
|
rs150303764
|
0.00041
|
|
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val)
|
rs147455836
|
0.00040
|
|
NM_001378120.1(MBD5):c.471A>G (p.Thr157=)
|
rs138433455
|
0.00040
|
|
NM_000057.4(BLM):c.3813G>A (p.Leu1271=)
|
rs376082823
|
0.00039
|
|
NM_024426.6(WT1):c.375C>T (p.Gly125=)
|
rs776209354
|
0.00039
|
|
NM_000057.4(BLM):c.816G>A (p.Lys272=)
|
rs139295905
|
0.00038
|
|
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=)
|
rs144957555
|
0.00038
|
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
|
NM_001211.6(BUB1B):c.2389T>G (p.Ser797Ala)
|
rs150707631
|
0.00036
|
|
NM_001211.6(BUB1B):c.36-14_36-13insG
|
rs373264516
|
0.00036
|
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
|
NM_022455.5(NSD1):c.4379-15A>G
|
rs143520065
|
0.00036
|
|
NM_024426.6(WT1):c.216G>T (p.Gln72His)
|
rs5030135
|
0.00036
|
|
NM_001172509.2(SATB2):c.1071C>T (p.Ser357=)
|
rs148055910
|
0.00035
|
|
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr)
|
rs138641637
|
0.00035
|
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
|
NM_000057.4(BLM):c.759G>A (p.Gln253=)
|
rs34580216
|
0.00034
|
|
NM_000057.4(BLM):c.780T>C (p.Thr260=)
|
rs55763079
|
0.00034
|
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00034
|
|
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser)
|
rs148839758
|
0.00034
|
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
|
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=)
|
rs141013408
|
0.00033
|
|
NM_001379200.1(TBX1):c.540-16C>T
|
rs200786105
|
0.00033
|
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
|
NM_022455.5(NSD1):c.2601C>A (p.Leu867=)
|
rs368078696
|
0.00032
|
|
NM_022455.5(NSD1):c.639C>T (p.Ser213=)
|
rs755931458
|
0.00032
|
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
|
NM_000057.4(BLM):c.2115T>C (p.Val705=)
|
rs142787700
|
0.00029
|
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
|
NM_001172509.2(SATB2):c.1257G>A (p.Gln419=)
|
rs367947535
|
0.00029
|
|
NM_001172509.2(SATB2):c.1386+18C>T
|
rs199984701
|
0.00029
|
|
NM_001211.6(BUB1B):c.1746A>C (p.Thr582=)
|
rs373105304
|
0.00029
|
|
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)
|
rs28989183
|
0.00029
|
|
NM_001211.6(BUB1B):c.752-13T>C
|
rs201927813
|
0.00029
|
|
NM_001378120.1(MBD5):c.1961A>T (p.Asp654Val)
|
rs115495710
|
0.00029
|
|
NM_014679.5(CEP57):c.807+8G>A
|
rs117602509
|
0.00029
|
|
NM_001211.6(BUB1B):c.1412C>T (p.Thr471Met)
|
rs117485407
|
0.00028
|
|
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val)
|
rs115940994
|
0.00028
|
|
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)
|
rs142703625
|
0.00028
|
|
NM_001211.6(BUB1B):c.1227A>C (p.Glu409Asp)
|
rs28989188
|
0.00027
|
|
NM_024426.6(WT1):c.1182C>T (p.Arg394=)
|
rs147939483
|
0.00027
|
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
|
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)
|
rs201993443
|
0.00026
|
|
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)
|
rs555522870
|
0.00026
|
|
NM_000057.4(BLM):c.1883-19A>C
|
rs200507632
|
0.00025
|
|
NM_000057.4(BLM):c.2838A>G (p.Thr946=)
|
rs200850440
|
0.00025
|
|
NM_001172509.2(SATB2):c.151G>A (p.Val51Met)
|
rs540871216
|
0.00025
|
|
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala)
|
rs193290006
|
0.00025
|
|
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)
|
rs143159630
|
0.00025
|
|
NM_000057.4(BLM):c.3225A>G (p.Arg1075=)
|
rs7171673
|
0.00024
|
|
NM_001172509.2(SATB2):c.333G>C (p.Ala111=)
|
rs140116634
|
0.00024
|
|
NM_001378120.1(MBD5):c.69G>A (p.Val23=)
|
rs151204004
|
0.00024
|
|
NM_001379200.1(TBX1):c.705C>T (p.Asn235=)
|
rs149453540
|
0.00024
|
|
NM_014679.5(CEP57):c.422A>G (p.Asn141Ser)
|
rs149196489
|
0.00024
|
|
NM_014679.5(CEP57):c.949C>T (p.His317Tyr)
|
rs140320103
|
0.00024
|
|
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)
|
rs143571876
|
0.00024
|
|
NM_000057.4(BLM):c.174T>C (p.Pro58=)
|
rs576862402
|
0.00023
|
|
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)
|
rs557057587
|
0.00023
|
|
NM_001211.6(BUB1B):c.1734+18T>C
|
rs185839024
|
0.00023
|
|
NM_001211.6(BUB1B):c.1413G>T (p.Thr471=)
|
rs374560564
|
0.00022
|
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
|
NM_022455.5(NSD1):c.2861A>C (p.Lys954Thr)
|
rs555067830
|
0.00022
|
|
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys)
|
rs138673583
|
0.00022
|
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
|
NM_001211.6(BUB1B):c.2009+17_2009+18insC
|
rs577967976
|
0.00021
|
|
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=)
|
rs371014306
|
0.00021
|
|
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu)
|
rs138639760
|
0.00021
|
|
NM_001378120.1(MBD5):c.2502A>C (p.Gln834His)
|
rs147272790
|
0.00021
|
|
NM_002397.5(MEF2C):c.27G>A (p.Thr9=)
|
rs540349899
|
0.00021
|
|
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)
|
rs139110744
|
0.00021
|
|
NM_022455.5(NSD1):c.1635G>A (p.Thr545=)
|
rs371958844
|
0.00021
|
|
NM_022455.5(NSD1):c.6463+8C>A
|
rs147592452
|
0.00021
|
|
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe)
|
rs201695275
|
0.00020
|
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
|
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)
|
rs746812421
|
0.00020
|
|
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=)
|
rs200135498
|
0.00020
|
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
|
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=)
|
rs150824088
|
0.00019
|
|
NM_001211.6(BUB1B):c.3147T>C (p.Phe1049=)
|
rs376467292
|
0.00019
|
|
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile)
|
rs761118931
|
0.00019
|
|
NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln)
|
rs146538238
|
0.00019
|
|
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)
|
rs146601031
|
0.00019
|
|
NM_022455.5(NSD1):c.6464-5T>C
|
rs545039997
|
0.00019
|
|
NM_022455.5(NSD1):c.6464-8G>T
|
rs577262396
|
0.00019
|
|
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn)
|
rs772981865
|
0.00019
|
|
NM_024426.6(WT1):c.124G>A (p.Gly42Ser)
|
rs762288656
|
0.00019
|
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
|
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys)
|
rs373090621
|
0.00018
|
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
|
NM_001172509.2(SATB2):c.1386+19G>A
|
rs374300066
|
0.00018
|
|
NM_001211.6(BUB1B):c.179+5G>A
|
rs368869250
|
0.00018
|
|
NM_022455.5(NSD1):c.2427G>A (p.Glu809=)
|
rs61744224
|
0.00018
|
|
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)
|
rs200115665
|
0.00018
|
|
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr)
|
rs201823140
|
0.00018
|
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
|
NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile)
|
rs74380950
|
0.00017
|
|
NM_014679.5(CEP57):c.46-10T>C
|
rs540711314
|
0.00017
|
|
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)
|
rs559617787
|
0.00017
|
|
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)
|
rs145027663
|
0.00016
|
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
|
NM_001172509.2(SATB2):c.1740+12C>T
|
rs201101830
|
0.00016
|
|
NM_001211.6(BUB1B):c.1920G>A (p.Pro640=)
|
rs755507111
|
0.00016
|
|
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)
|
rs148348158
|
0.00016
|
|
NM_014679.5(CEP57):c.25G>A (p.Ala9Thr)
|
rs150749300
|
0.00016
|
|
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)
|
rs61756006
|
0.00016
|
|
NM_022455.5(NSD1):c.3221G>A (p.Arg1074His)
|
rs766901249
|
0.00016
|
|
NM_022455.5(NSD1):c.7421A>C (p.Gln2474Pro)
|
rs202220730
|
0.00016
|
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
|
NM_024426.6(WT1):c.567G>T (p.Pro189=)
|
rs141135091
|
0.00016
|
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
|
NM_001172509.2(SATB2):c.1572G>A (p.Lys524=)
|
rs376557576
|
0.00015
|
|
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)
|
rs148321416
|
0.00015
|
|
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)
|
rs543329958
|
0.00015
|
|
NM_001378120.1(MBD5):c.4963-11C>T
|
rs147291009
|
0.00015
|
|
NM_001379200.1(TBX1):c.913C>A (p.Arg305=)
|
rs751339103
|
0.00015
|
|
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg)
|
rs374110615
|
0.00015
|
|
NM_000057.4(BLM):c.1702G>C (p.Glu568Gln)
|
rs1360373872
|
0.00014
|
|
NM_000057.4(BLM):c.842A>C (p.His281Pro)
|
rs202042636
|
0.00014
|
|
NM_001172509.2(SATB2):c.405C>T (p.Pro135=)
|
rs150990155
|
0.00014
|
|
NM_001172509.2(SATB2):c.585C>T (p.Cys195=)
|
rs376383948
|
0.00014
|
|
NM_001211.6(BUB1B):c.1628+17T>G
|
rs375854305
|
0.00014
|
|
NM_001211.6(BUB1B):c.2762A>T (p.Gln921Leu)
|
rs141119531
|
0.00014
|
|
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
|
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)
|
rs918788695
|
0.00014
|
|
NM_014679.5(CEP57):c.1306G>C (p.Glu436Gln)
|
rs200955895
|
0.00014
|
|
NM_014679.5(CEP57):c.501A>G (p.Lys167=)
|
rs140524256
|
0.00014
|
|
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu)
|
rs201327209
|
0.00014
|
|
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=)
|
rs201312975
|
0.00014
|
|
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)
|
rs144524958
|
0.00014
|
|
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)
|
rs192491153
|
0.00013
|
|
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)
|
rs202196488
|
0.00013
|
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
|
NM_001172509.2(SATB2):c.381C>A (p.Pro127=)
|
rs746473092
|
0.00013
|
|
NM_001211.6(BUB1B):c.2351C>T (p.Ala784Val)
|
rs142705245
|
0.00013
|
|
NM_001379200.1(TBX1):c.594G>A (p.Thr198=)
|
rs138724943
|
0.00013
|
|
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr)
|
rs200364297
|
0.00012
|
|
NM_000057.4(BLM):c.2194-13C>T
|
rs746930460
|
0.00012
|
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
|
NM_001172509.2(SATB2):c.1173+6A>G
|
rs747745210
|
0.00012
|
|
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr)
|
rs142825652
|
0.00012
|
|
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)
|
rs183855575
|
0.00012
|
|
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)
|
rs768269976
|
0.00012
|
|
NM_022455.5(NSD1):c.6276G>A (p.Thr2092=)
|
rs138041618
|
0.00012
|
|
NM_022455.5(NSD1):c.786C>T (p.Asp262=)
|
rs370328602
|
0.00012
|
|
NM_024426.6(WT1):c.1017-15T>C
|
rs374441355
|
0.00012
|
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00011
|
|
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)
|
rs571152089
|
0.00011
|
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
|
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)
|
rs201770808
|
0.00011
|
|
NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp)
|
rs147191297
|
0.00011
|
|
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp)
|
rs201251790
|
0.00011
|
|
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)
|
rs146795655
|
0.00011
|
|
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)
|
rs138332995
|
0.00011
|
|
NM_001378120.1(MBD5):c.217-16G>C
|
rs377517776
|
0.00011
|
|
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg)
|
rs763275881
|
0.00011
|
|
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu)
|
rs774513612
|
0.00011
|
|
NM_001379200.1(TBX1):c.936-8G>T
|
rs753380966
|
0.00011
|
|
NM_001379200.1(TBX1):c.96C>T (p.Ala32=)
|
rs931429492
|
0.00011
|
|
NM_002397.5(MEF2C):c.642C>T (p.Asn214=)
|
rs79455305
|
0.00011
|
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
|
NM_022455.5(NSD1):c.436A>G (p.Ile146Val)
|
rs745885259
|
0.00011
|
|
NM_024426.6(WT1):c.343C>T (p.Pro115Ser)
|
rs916583720
|
0.00011
|
|
NM_000057.4(BLM):c.2598A>T (p.Val866=)
|
rs574053990
|
0.00010
|
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
|
NM_000057.4(BLM):c.3426C>T (p.Ala1142=)
|
rs147148171
|
0.00010
|
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
|
NM_001172509.2(SATB2):c.1173+5A>G
|
rs569655648
|
0.00010
|
|
NM_001172509.2(SATB2):c.2088C>T (p.Thr696=)
|
rs143484322
|
0.00010
|
|
NM_001211.6(BUB1B):c.2385+4G>C
|
rs202108787
|
0.00010
|
|
NM_001378120.1(MBD5):c.4182A>G (p.Ser1394=)
|
rs775314520
|
0.00010
|
|
NM_001379200.1(TBX1):c.915G>C (p.Arg305=)
|
rs146109202
|
0.00010
|
|
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)
|
rs753002290
|
0.00010
|
|
NM_002397.5(MEF2C):c.180C>T (p.Thr60=)
|
rs773278207
|
0.00010
|
|
NM_002397.5(MEF2C):c.258+7G>C
|
rs372739987
|
0.00010
|
|
NM_022455.5(NSD1):c.1317C>T (p.Asn439=)
|
rs150421873
|
0.00010
|
|
NM_022455.5(NSD1):c.3133C>T (p.Arg1045Cys)
|
rs377148087
|
0.00010
|
|
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)
|
rs763399938
|
0.00010
|
|
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)
|
rs140229717
|
0.00010
|
|
NM_022455.5(NSD1):c.4966+6G>A
|
rs373129093
|
0.00010
|
|
NM_024426.6(WT1):c.1264+19C>T
|
rs2234592
|
0.00010
|
|
NM_024426.6(WT1):c.849C>T (p.Thr283=)
|
rs145425799
|
0.00010
|
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
|
NM_001172509.2(SATB2):c.1248G>A (p.Arg416=)
|
rs371524081
|
0.00009
|
|
NM_001172509.2(SATB2):c.1935C>T (p.Ile645=)
|
rs183727190
|
0.00009
|
|
NM_001211.6(BUB1B):c.966+14G>C
|
rs377647421
|
0.00009
|
|
NM_001378120.1(MBD5):c.1458T>C (p.Ile486=)
|
rs144232195
|
0.00009
|
|
NM_001378120.1(MBD5):c.1965A>C (p.Ala655=)
|
rs774148814
|
0.00009
|
|
NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr)
|
rs370340010
|
0.00009
|
|
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met)
|
rs377604964
|
0.00009
|
|
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr)
|
rs534413662
|
0.00009
|
|
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala)
|
rs756608508
|
0.00009
|
|
NM_001378120.1(MBD5):c.935A>T (p.Lys312Ile)
|
rs146031838
|
0.00009
|
|
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)
|
rs764197422
|
0.00009
|
|
NM_001379200.1(TBX1):c.284C>T (p.Pro95Leu)
|
rs775295536
|
0.00009
|
|
NM_001379200.1(TBX1):c.539+7G>A
|
rs780062926
|
0.00009
|
|
NM_001379200.1(TBX1):c.540-15C>G
|
rs45561334
|
0.00009
|
|
NM_001379200.1(TBX1):c.711C>T (p.His237=)
|
rs200021644
|
0.00009
|
|
NM_002397.5(MEF2C):c.54+13A>T
|
rs374788140
|
0.00009
|
|
NM_014679.5(CEP57):c.1057T>A (p.Ser353Thr)
|
rs544014488
|
0.00009
|
|
NM_014679.5(CEP57):c.382+20T>G
|
rs140437159
|
0.00009
|
|
NM_014679.5(CEP57):c.818G>T (p.Arg273Met)
|
rs377308306
|
0.00009
|
|
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)
|
rs143585233
|
0.00009
|
|
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala)
|
rs375051877
|
0.00009
|
|
NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile)
|
rs35597015
|
0.00009
|
|
NM_022455.5(NSD1):c.4665G>A (p.Leu1555=)
|
rs779537845
|
0.00009
|
|
NM_022455.5(NSD1):c.6429C>T (p.His2143=)
|
rs121908068
|
0.00009
|
|
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=)
|
rs148585227
|
0.00009
|
|
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=)
|
rs139879749
|
0.00009
|
|
NM_022455.5(NSD1):c.72C>T (p.Ala24=)
|
rs147146776
|
0.00009
|
|
NM_024426.6(WT1):c.1158G>A (p.Ser386=)
|
rs377446096
|
0.00009
|
|
NM_024426.6(WT1):c.381C>G (p.Pro127=)
|
rs771681406
|
0.00009
|
|
NM_024426.6(WT1):c.421C>T (p.Pro141Ser)
|
rs750548251
|
0.00009
|
|
NM_024426.6(WT1):c.966-20C>T
|
rs374791135
|
0.00009
|
|
NM_000057.4(BLM):c.1088-14T>C
|
rs781351856
|
0.00008
|
|
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)
|
rs141269464
|
0.00008
|
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
|
NM_001172509.2(SATB2):c.1740+20G>A
|
rs375950005
|
0.00008
|
|
NM_001172509.2(SATB2):c.2109C>T (p.Ser703=)
|
rs148851926
|
0.00008
|
|
NM_001172509.2(SATB2):c.306G>A (p.Leu102=)
|
rs201405384
|
0.00008
|
|
NM_001211.6(BUB1B):c.1123G>A (p.Glu375Lys)
|
rs981618923
|
0.00008
|
|
NM_001211.6(BUB1B):c.2673A>G (p.Arg891=)
|
rs140574971
|
0.00008
|
|
NM_001211.6(BUB1B):c.2805C>G (p.Ile935Met)
|
rs550832943
|
0.00008
|
|
NM_001211.6(BUB1B):c.2857C>T (p.Leu953=)
|
rs1055481142
|
0.00008
|
|
NM_001378120.1(MBD5):c.1564C>T (p.Pro522Ser)
|
rs1161083244
|
0.00008
|
|
NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro)
|
rs761395486
|
0.00008
|
|
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=)
|
rs1443686047
|
0.00008
|
|
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly)
|
rs557935727
|
0.00008
|
|
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln)
|
rs776268518
|
0.00008
|
|
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val)
|
rs753613632
|
0.00008
|
|
NM_002397.5(MEF2C):c.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
|
NM_002397.5(MEF2C):c.780A>G (p.Pro260=)
|
rs776117674
|
0.00008
|
|
NM_014679.5(CEP57):c.1123A>C (p.Ser375Arg)
|
rs145833953
|
0.00008
|
|
NM_014679.5(CEP57):c.426A>G (p.Leu142=)
|
rs148894464
|
0.00008
|
|
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys)
|
rs377684553
|
0.00008
|
|
NM_022455.5(NSD1):c.6259-8A>T
|
rs370529039
|
0.00008
|
|
NM_022455.5(NSD1):c.7350T>C (p.Asn2450=)
|
rs200241618
|
0.00008
|
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
|
NM_024426.6(WT1):c.1140C>A (p.Ala380=)
|
rs147126640
|
0.00008
|
|
NM_024426.6(WT1):c.1264+12C>T
|
rs369633552
|
0.00008
|
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
|
NM_024426.6(WT1):c.887+14G>A
|
rs757237600
|
0.00008
|
|
NM_024426.6(WT1):c.888-16G>C
|
rs371814667
|
0.00008
|
|
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr)
|
rs371965329
|
0.00007
|
|
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
|
rs138542210
|
0.00007
|
|
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
|
NM_000057.4(BLM):c.2856G>A (p.Gly952=)
|
rs140559841
|
0.00007
|
|
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg)
|
rs139773499
|
0.00007
|
|
NM_000057.4(BLM):c.3751+9A>C
|
rs774368488
|
0.00007
|
|
NM_001172509.2(SATB2):c.1387-6T>C
|
rs769072507
|
0.00007
|
|
NM_001172509.2(SATB2):c.1776G>A (p.Glu592=)
|
rs375553887
|
0.00007
|
|
NM_001172509.2(SATB2):c.1947G>A (p.Ser649=)
|
rs781765799
|
0.00007
|
|
NM_001211.6(BUB1B):c.1437A>G (p.Lys479=)
|
rs56292726
|
0.00007
|
|
NM_001211.6(BUB1B):c.1735-19T>C
|
rs750579205
|
0.00007
|
|
NM_001211.6(BUB1B):c.219C>T (p.Asp73=)
|
rs548540749
|
0.00007
|
|
NM_001211.6(BUB1B):c.678A>G (p.Thr226=)
|
rs142284213
|
0.00007
|
|
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu)
|
rs114359726
|
0.00007
|
|
NM_001378120.1(MBD5):c.3681G>A (p.Ala1227=)
|
rs572893308
|
0.00007
|
|
NM_001378120.1(MBD5):c.3690A>G (p.Gly1230=)
|
rs139379552
|
0.00007
|
|
NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg)
|
rs201334086
|
0.00007
|
|
NM_001378120.1(MBD5):c.4963-10C>T
|
rs201439677
|
0.00007
|
|
NM_001379200.1(TBX1):c.95C>T (p.Ala32Val)
|
rs1415687525
|
0.00007
|
|
NM_001379200.1(TBX1):c.961C>T (p.Leu321=)
|
rs745951558
|
0.00007
|
|
NM_014679.5(CEP57):c.540A>G (p.Thr180=)
|
rs376792493
|
0.00007
|
|
NM_022455.5(NSD1):c.1095C>T (p.Tyr365=)
|
rs200080728
|
0.00007
|
|
NM_022455.5(NSD1):c.142A>G (p.Met48Val)
|
rs200735877
|
0.00007
|
|
NM_022455.5(NSD1):c.340A>G (p.Thr114Ala)
|
rs749444972
|
0.00007
|
|
NM_022455.5(NSD1):c.4765+15G>A
|
rs766201833
|
0.00007
|
|
NM_024426.6(WT1):c.1017-9T>C
|
rs368486676
|
0.00007
|
|
NM_024426.6(WT1):c.1020C>T (p.His340=)
|
rs375114529
|
0.00007
|
|
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)
|
rs184657475
|
0.00006
|
|
NM_000057.4(BLM):c.114A>G (p.Lys38=)
|
rs770017301
|
0.00006
|
|
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys)
|
rs887921909
|
0.00006
|
|
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile)
|
rs550417200
|
0.00006
|
|
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)
|
rs371023654
|
0.00006
|
|
NM_000057.4(BLM):c.2194-11T>G
|
rs8038505
|
0.00006
|
|
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)
|
rs769498533
|
0.00006
|
|
NM_000057.4(BLM):c.2315C>T (p.Ala772Val)
|
rs765478171
|
0.00006
|
|
NM_000057.4(BLM):c.2407-6A>G
|
rs1478497820
|
0.00006
|
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
|
NM_000057.4(BLM):c.2555+14C>T
|
rs372929243
|
0.00006
|
|
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)
|
rs146723808
|
0.00006
|
|
NM_000057.4(BLM):c.2877A>C (p.Arg959=)
|
rs773582992
|
0.00006
|
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
|
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)
|
rs369629509
|
0.00006
|
|
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys)
|
rs201676342
|
0.00006
|
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
|
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)
|
rs527291754
|
0.00006
|
|
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val)
|
rs587779892
|
0.00006
|
|
NM_000057.4(BLM):c.4186T>C (p.Leu1396=)
|
rs376734461
|
0.00006
|
|
NM_000057.4(BLM):c.450C>T (p.Thr150=)
|
rs148861300
|
0.00006
|
|
NM_000057.4(BLM):c.542G>T (p.Ser181Ile)
|
rs587779893
|
0.00006
|
|
NM_000057.4(BLM):c.715G>A (p.Asp239Asn)
|
rs200756519
|
0.00006
|
|
NM_000057.4(BLM):c.800-3T>G
|
rs377266736
|
0.00006
|
|
NM_000057.4(BLM):c.808G>A (p.Glu270Lys)
|
rs762053925
|
0.00006
|
|
NM_001172509.2(SATB2):c.1174-18T>A
|
rs1194654045
|
0.00006
|
|
NM_001172509.2(SATB2):c.1778G>A (p.Ser593Asn)
|
rs751007411
|
0.00006
|
|
NM_001172509.2(SATB2):c.2019C>T (p.His673=)
|
rs752933023
|
0.00006
|
|
NM_001172509.2(SATB2):c.2052G>A (p.Val684=)
|
rs200632115
|
0.00006
|
|
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro)
|
rs12619995
|
0.00006
|
|
NM_001211.6(BUB1B):c.1032G>A (p.Val344=)
|
rs756307061
|
0.00006
|
|
NM_001211.6(BUB1B):c.1443A>G (p.Gln481=)
|
rs754657047
|
0.00006
|
|
NM_001211.6(BUB1B):c.2010-11G>T
|
rs370832226
|
0.00006
|
|
NM_001211.6(BUB1B):c.2284+18C>T
|
rs113609246
|
0.00006
|
|
NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro)
|
rs374968269
|
0.00006
|
|
NM_001211.6(BUB1B):c.464A>G (p.Tyr155Cys)
|
rs764923350
|
0.00006
|
|
NM_001211.6(BUB1B):c.555A>G (p.Pro185=)
|
rs139794931
|
0.00006
|
|
NM_001211.6(BUB1B):c.907G>A (p.Ala303Thr)
|
rs746825915
|
0.00006
|
|
NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu)
|
rs768570356
|
0.00006
|
|
NM_001378120.1(MBD5):c.1536C>T (p.Ser512=)
|
rs147908860
|
0.00006
|
|
NM_001378120.1(MBD5):c.1999T>C (p.Leu667=)
|
rs529715710
|
0.00006
|
|
NM_001378120.1(MBD5):c.267T>C (p.Asp89=)
|
rs143333632
|
0.00006
|
|
NM_001378120.1(MBD5):c.3726C>T (p.Pro1242=)
|
rs144464864
|
0.00006
|
|
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser)
|
rs150972614
|
0.00006
|
|
NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln)
|
rs368605084
|
0.00006
|
|
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro)
|
rs755937050
|
0.00006
|
|
NM_001379200.1(TBX1):c.198C>T (p.Ala66=)
|
rs1398031445
|
0.00006
|
|
NM_001379200.1(TBX1):c.540-13C>T
|
rs200902332
|
0.00006
|
|
NM_001379200.1(TBX1):c.657C>T (p.Ile219=)
|
rs141186024
|
0.00006
|
|
NM_001379200.1(TBX1):c.666C>T (p.Phe222=)
|
rs546513284
|
0.00006
|
|
NM_001379200.1(TBX1):c.711+3G>A
|
rs376779775
|
0.00006
|
|
NM_002397.5(MEF2C):c.309G>A (p.Ala103=)
|
rs567797470
|
0.00006
|
|
NM_002397.5(MEF2C):c.759A>G (p.Pro253=)
|
rs368575766
|
0.00006
|
|
NM_014679.5(CEP57):c.985A>G (p.Ser329Gly)
|
rs193213400
|
0.00006
|
|
NM_022455.5(NSD1):c.113A>G (p.Asn38Ser)
|
rs368524494
|
0.00006
|
|
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg)
|
rs142544192
|
0.00006
|
|
NM_022455.5(NSD1):c.2031T>G (p.Ser677=)
|
rs143705256
|
0.00006
|
|
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser)
|
rs28932174
|
0.00006
|
|
NM_022455.5(NSD1):c.4379-5C>T
|
rs763154004
|
0.00006
|
|
NM_022455.5(NSD1):c.4642-7T>C
|
rs183928380
|
0.00006
|
|
NM_022455.5(NSD1):c.5010C>T (p.Ala1670=)
|
rs1351246894
|
0.00006
|
|
NM_022455.5(NSD1):c.7160C>T (p.Pro2387Leu)
|
rs766700264
|
0.00006
|
|
NM_024426.6(WT1):c.1146T>A (p.Thr382=)
|
rs371168589
|
0.00006
|
|
NM_024426.6(WT1):c.117G>A (p.Arg39=)
|
rs537150542
|
0.00006
|
|
NM_024426.6(WT1):c.121C>T (p.Pro41Ser)
|
rs926668379
|
0.00006
|
|
NM_024426.6(WT1):c.1269G>A (p.Glu423=)
|
rs767850636
|
0.00006
|
|
NM_024426.6(WT1):c.1404C>T (p.Ser468=)
|
rs374799820
|
0.00006
|
|
NM_024426.6(WT1):c.162C>G (p.Ser54Arg)
|
rs776954184
|
0.00006
|
|
NM_024426.6(WT1):c.29C>T (p.Ala10Val)
|
rs997104313
|
0.00006
|
|
NM_024426.6(WT1):c.689C>T (p.Thr230Met)
|
rs777166391
|
0.00006
|
|
NM_024426.6(WT1):c.696C>T (p.Ser232=)
|
rs9332974
|
0.00006
|
|
NM_024426.6(WT1):c.785G>A (p.Gly262Asp)
|
rs372225738
|
0.00006
|
|
NM_000057.4(BLM):c.1121A>G (p.His374Arg)
|
rs776225502
|
0.00005
|
|
NM_000057.4(BLM):c.1194C>T (p.Asn398=)
|
rs202103556
|
0.00005
|
|
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr)
|
rs587779879
|
0.00005
|
|
NM_000057.4(BLM):c.1881T>C (p.Thr627=)
|
rs148678729
|
0.00005
|
|
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys)
|
rs201458487
|
0.00005
|
|
NM_000057.4(BLM):c.2025G>A (p.Ala675=)
|
rs781424357
|
0.00005
|
|
NM_000057.4(BLM):c.2049A>G (p.Glu683=)
|
rs201440695
|
0.00005
|
|
NM_000057.4(BLM):c.2599T>C (p.Leu867=)
|
rs370713907
|
0.00005
|
|
NM_000057.4(BLM):c.3136G>A (p.Gly1046Ser)
|
rs373241803
|
0.00005
|
|
NM_000057.4(BLM):c.3229G>A (p.Val1077Met)
|
rs779096973
|
0.00005
|
|
NM_000057.4(BLM):c.3359-12T>A
|
rs370837480
|
0.00005
|
|
NM_000057.4(BLM):c.361A>C (p.Thr121Pro)
|
rs774608080
|
0.00005
|
|
NM_000057.4(BLM):c.368A>G (p.Gln123Arg)
|
rs371223446
|
0.00005
|
|
NM_000057.4(BLM):c.371A>G (p.Asn124Ser)
|
rs770825975
|
0.00005
|
|
NM_000057.4(BLM):c.4077-5T>C
|
rs200653178
|
0.00005
|
|
NM_000057.4(BLM):c.4224G>A (p.Pro1408=)
|
rs774367622
|
0.00005
|
|
NM_000057.4(BLM):c.934T>G (p.Ser312Ala)
|
rs372454889
|
0.00005
|
|
NM_001172509.2(SATB2):c.1173+4C>A
|
rs376920785
|
0.00005
|
|
NM_001172509.2(SATB2):c.1828A>G (p.Ser610Gly)
|
rs1048433974
|
0.00005
|
|
NM_001172509.2(SATB2):c.1843C>T (p.Pro615Ser)
|
rs1394335364
|
0.00005
|
|
NM_001211.6(BUB1B):c.2535+19A>G
|
rs748758973
|
0.00005
|
|
NM_001211.6(BUB1B):c.255A>G (p.Thr85=)
|
rs140273483
|
0.00005
|
|
NM_001211.6(BUB1B):c.2995C>T (p.Arg999Trp)
|
rs201246315
|
0.00005
|
|
NM_001211.6(BUB1B):c.783A>G (p.Pro261=)
|
rs376912927
|
0.00005
|
|
NM_001211.6(BUB1B):c.959A>G (p.Glu320Gly)
|
rs771382233
|
0.00005
|
|
NM_001378120.1(MBD5):c.1449T>C (p.Ser483=)
|
rs777754350
|
0.00005
|
|
NM_001378120.1(MBD5):c.183G>A (p.Lys61=)
|
rs140522551
|
0.00005
|
|
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His)
|
rs200151142
|
0.00005
|
|
NM_001378120.1(MBD5):c.370G>C (p.Val124Leu)
|
rs751595371
|
0.00005
|
|
NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val)
|
rs572436251
|
0.00005
|
|
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)
|
rs199530726
|
0.00005
|
|
NM_001379200.1(TBX1):c.1082C>T (p.Pro361Leu)
|
rs1001921296
|
0.00005
|
|
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln)
|
rs747623105
|
0.00005
|
|
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)
|
rs541198585
|
0.00005
|
|
NM_001379200.1(TBX1):c.624G>A (p.Ser208=)
|
rs754390970
|
0.00005
|
|
NM_001379200.1(TBX1):c.978C>T (p.Ala326=)
|
rs772039142
|
0.00005
|
|
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr)
|
rs796052726
|
0.00005
|
|
NM_014679.5(CEP57):c.1062C>T (p.Asn354=)
|
rs377021503
|
0.00005
|
|
NM_014679.5(CEP57):c.676C>T (p.Arg226Cys)
|
rs144903440
|
0.00005
|
|
NM_014679.5(CEP57):c.751C>T (p.Pro251Ser)
|
rs149293164
|
0.00005
|
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
|
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)
|
rs756022347
|
0.00005
|
|
NM_022455.5(NSD1):c.3741G>A (p.Met1247Ile)
|
rs760307871
|
0.00005
|
|
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln)
|
rs368706736
|
0.00005
|
|
NM_022455.5(NSD1):c.4303-4A>G
|
rs775759198
|
0.00005
|
|
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=)
|
rs756321444
|
0.00005
|
|
NM_022455.5(NSD1):c.7196A>C (p.Lys2399Thr)
|
rs755585241
|
0.00005
|
|
NM_024426.6(WT1):c.1059C>T (p.Ile353=)
|
rs527655625
|
0.00005
|
|
NM_024426.6(WT1):c.510C>T (p.Ser170=)
|
rs772890986
|
0.00005
|
|
NM_024426.6(WT1):c.615C>G (p.Pro205=)
|
rs769467940
|
0.00005
|
|
NM_024426.6(WT1):c.730T>A (p.Phe244Ile)
|
rs771455202
|
0.00005
|
|
NM_000057.4(BLM):c.1221-8C>T
|
rs1895945158
|
0.00004
|
|
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn)
|
rs368967327
|
0.00004
|
|
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys)
|
rs752494229
|
0.00004
|
|
NM_000057.4(BLM):c.1883-13A>G
|
rs575410334
|
0.00004
|
|
NM_000057.4(BLM):c.201T>C (p.Val67=)
|
rs563887813
|
0.00004
|
|
NM_000057.4(BLM):c.2074+20A>G
|
rs375831667
|
0.00004
|
|
NM_000057.4(BLM):c.226C>A (p.Pro76Thr)
|
rs768843912
|
0.00004
|
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
|
NM_000057.4(BLM):c.2555+19C>G
|
rs769922498
|
0.00004
|
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
|
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln)
|
rs748054605
|
0.00004
|
|
NM_000057.4(BLM):c.2721G>A (p.Thr907=)
|
rs1009065257
|
0.00004
|
|
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg)
|
rs755784410
|
0.00004
|
|
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg)
|
rs370073229
|
0.00004
|
|
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met)
|
rs576199850
|
0.00004
|
|
NM_000057.4(BLM):c.3210+2dup
|
rs755232267
|
0.00004
|
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
|
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu)
|
rs373003917
|
0.00004
|
|
NM_000057.4(BLM):c.4061G>C (p.Gly1354Ala)
|
rs891751726
|
0.00004
|
|
NM_000057.4(BLM):c.4102T>A (p.Ser1368Thr)
|
rs587778104
|
0.00004
|
|
NM_000057.4(BLM):c.451A>G (p.Ile151Val)
|
rs780472557
|
0.00004
|
|
NM_000057.4(BLM):c.457G>C (p.Asp153His)
|
rs368158276
|
0.00004
|
|
NM_000057.4(BLM):c.722G>A (p.Gly241Asp)
|
rs200897029
|
0.00004
|
|
NM_000057.4(BLM):c.724C>T (p.Pro242Ser)
|
rs768513523
|
0.00004
|
|
NM_000057.4(BLM):c.847A>G (p.Thr283Ala)
|
rs149598003
|
0.00004
|
|
NM_000057.4(BLM):c.98C>T (p.Ser33Leu)
|
rs139282091
|
0.00004
|
|
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=)
|
rs771044415
|
0.00004
|
|
NM_001172509.2(SATB2):c.1335G>A (p.Val445=)
|
rs547239131
|
0.00004
|
|
NM_001172509.2(SATB2):c.1387-4G>T
|
rs749603983
|
0.00004
|
|
NM_001172509.2(SATB2):c.1467C>T (p.Asp489=)
|
rs370291268
|
0.00004
|
|
NM_001172509.2(SATB2):c.1530A>G (p.Ala510=)
|
rs377035208
|
0.00004
|
|
NM_001172509.2(SATB2):c.169+11G>T
|
rs779817342
|
0.00004
|
|
NM_001172509.2(SATB2):c.1740+19C>T
|
rs757980261
|
0.00004
|
|
NM_001172509.2(SATB2):c.2055C>T (p.Asp685=)
|
rs747832215
|
0.00004
|
|
NM_001172509.2(SATB2):c.219T>G (p.Leu73=)
|
rs150919931
|
0.00004
|
|
NM_001172509.2(SATB2):c.408C>T (p.Asp136=)
|
rs756417252
|
0.00004
|
|
NM_001172509.2(SATB2):c.420C>T (p.Ala140=)
|
rs202223477
|
0.00004
|
|
NM_001172509.2(SATB2):c.42C>G (p.Pro14=)
|
rs773072163
|
0.00004
|
|
NM_001172509.2(SATB2):c.453G>A (p.Thr151=)
|
rs973674250
|
0.00004
|
|
NM_001211.6(BUB1B):c.1150A>G (p.Ser384Gly)
|
rs202114756
|
0.00004
|
|
NM_001211.6(BUB1B):c.125A>G (p.Gln42Arg)
|
rs368079817
|
0.00004
|
|
NM_001211.6(BUB1B):c.1290C>T (p.Ala430=)
|
rs376379876
|
0.00004
|
|
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)
|
rs373256667
|
0.00004
|
|
NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro)
|
rs747886467
|
0.00004
|
|
NM_001211.6(BUB1B):c.1533G>A (p.Ala511=)
|
rs779879463
|
0.00004
|
|
NM_001211.6(BUB1B):c.1568-16G>A
|
rs372690199
|
0.00004
|
|
NM_001211.6(BUB1B):c.1973C>T (p.Thr658Ile)
|
rs373789523
|
0.00004
|
|
NM_001211.6(BUB1B):c.2030G>A (p.Arg677His)
|
rs557521971
|
0.00004
|
|
NM_001211.6(BUB1B):c.2210T>G (p.Leu737Ter)
|
rs759242053
|
0.00004
|
|
NM_001211.6(BUB1B):c.2535+16A>G
|
rs777426066
|
0.00004
|
|
NM_001211.6(BUB1B):c.2658G>C (p.Arg886Ser)
|
rs146821149
|
0.00004
|
|
NM_001211.6(BUB1B):c.2866A>G (p.Ile956Val)
|
rs775844666
|
0.00004
|
|
NM_001211.6(BUB1B):c.2994G>A (p.Val998=)
|
rs771453874
|
0.00004
|
|
NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln)
|
rs377612791
|
0.00004
|
|
NM_001211.6(BUB1B):c.542A>G (p.Gln181Arg)
|
rs375798678
|
0.00004
|
|
NM_001378120.1(MBD5):c.113+4A>G
|
rs201821636
|
0.00004
|
|
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val)
|
rs771672174
|
0.00004
|
|
NM_001378120.1(MBD5):c.2148T>C (p.Ser716=)
|
rs746698199
|
0.00004
|
|
NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp)
|
rs748328427
|
0.00004
|
|
NM_001378120.1(MBD5):c.2370C>T (p.Ser790=)
|
rs376037852
|
0.00004
|
|
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp)
|
rs201668347
|
0.00004
|
|
NM_001378120.1(MBD5):c.2454G>A (p.Thr818=)
|
rs769275989
|
0.00004
|
|
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn)
|
rs398124344
|
0.00004
|
|
NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr)
|
rs770801894
|
0.00004
|
|
NM_001378120.1(MBD5):c.327G>A (p.Val109=)
|
rs760258675
|
0.00004
|
|
NM_001378120.1(MBD5):c.3663G>T (p.Gly1221=)
|
rs774912000
|
0.00004
|
|
NM_001378120.1(MBD5):c.3669G>A (p.Gln1223=)
|
rs143854410
|
0.00004
|
|
NM_001378120.1(MBD5):c.385G>A (p.Gly129Arg)
|
rs370534487
|
0.00004
|
|
NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu)
|
rs375158010
|
0.00004
|
|
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)
|
rs199626531
|
0.00004
|
|
NM_001378120.1(MBD5):c.397+20G>A
|
rs201763502
|
0.00004
|
|
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)
|
rs748142226
|
0.00004
|
|
NM_001378120.1(MBD5):c.4161T>C (p.His1387=)
|
rs748321288
|
0.00004
|
|
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)
|
rs773873513
|
0.00004
|
|
NM_001378120.1(MBD5):c.4732G>A (p.Val1578Ile)
|
rs376249586
|
0.00004
|
|
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)
|
rs775673512
|
0.00004
|
|
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)
|
rs568826753
|
0.00004
|
|
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr)
|
rs776228346
|
0.00004
|
|
NM_001379200.1(TBX1):c.1085C>G (p.Ala362Gly)
|
rs569581176
|
0.00004
|
|
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln)
|
rs548714133
|
0.00004
|
|
NM_001379200.1(TBX1):c.113G>A (p.Gly38Asp)
|
rs908778553
|
0.00004
|
|
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=)
|
rs941116789
|
0.00004
|
|
NM_001379200.1(TBX1):c.201C>G (p.Pro67=)
|
rs1310802135
|
0.00004
|
|
NM_001379200.1(TBX1):c.437+11C>T
|
rs751433208
|
0.00004
|
|
NM_001379200.1(TBX1):c.438-5C>G
|
rs972035685
|
0.00004
|
|
NM_001379200.1(TBX1):c.489C>T (p.Ala163=)
|
rs41298816
|
0.00004
|
|
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr)
|
rs1342897153
|
0.00004
|
|
NM_001379200.1(TBX1):c.867+11G>A
|
rs180798122
|
0.00004
|
|
NM_002397.5(MEF2C):c.111G>A (p.Val37=)
|
rs759783899
|
0.00004
|
|
NM_002397.5(MEF2C):c.1332C>T (p.His444=)
|
rs376439815
|
0.00004
|
|
NM_002397.5(MEF2C):c.252C>T (p.Ile84=)
|
rs780952466
|
0.00004
|
|
NM_002397.5(MEF2C):c.258+10C>T
|
rs563149132
|
0.00004
|
|
NM_002397.5(MEF2C):c.312C>T (p.Asp104=)
|
rs587781034
|
0.00004
|
|
NM_002397.5(MEF2C):c.34A>G (p.Met12Val)
|
rs965091526
|
0.00004
|
|
NM_002397.5(MEF2C):c.609C>T (p.Asp203=)
|
rs997965581
|
0.00004
|
|
NM_002397.5(MEF2C):c.871T>C (p.Leu291=)
|
rs747980554
|
0.00004
|
|
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro)
|
rs760029883
|
0.00004
|
|
NM_014679.5(CEP57):c.1256G>A (p.Arg419Gln)
|
rs780215823
|
0.00004
|
|
NM_014679.5(CEP57):c.1273-14G>A
|
rs765062367
|
0.00004
|
|
NM_014679.5(CEP57):c.440T>C (p.Leu147Ser)
|
rs143361668
|
0.00004
|
|
NM_014679.5(CEP57):c.48C>T (p.Asn16=)
|
rs974481023
|
0.00004
|
|
NM_014679.5(CEP57):c.808-6A>G
|
rs372413990
|
0.00004
|
|
NM_014679.5(CEP57):c.885+18C>T
|
rs765633450
|
0.00004
|
|
NM_014679.5(CEP57):c.926T>G (p.Leu309Arg)
|
rs567427808
|
0.00004
|
|
NM_022455.5(NSD1):c.1605A>G (p.Leu535=)
|
rs746977419
|
0.00004
|
|
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu)
|
rs374740802
|
0.00004
|
|
NM_022455.5(NSD1):c.2425G>A (p.Glu809Lys)
|
rs371421105
|
0.00004
|
|
NM_022455.5(NSD1):c.2586C>T (p.Ser862=)
|
rs752997132
|
0.00004
|
|
NM_022455.5(NSD1):c.2766G>A (p.Thr922=)
|
rs369705297
|
0.00004
|
|
NM_022455.5(NSD1):c.3092G>A (p.Arg1031Gln)
|
rs780306768
|
0.00004
|
|
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp)
|
rs770541943
|
0.00004
|
|
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)
|
rs188847458
|
0.00004
|
|
NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys)
|
rs775044010
|
0.00004
|
|
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=)
|
rs541077303
|
0.00004
|
|
NM_022455.5(NSD1):c.3540A>G (p.Lys1180=)
|
rs776683728
|
0.00004
|
|
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)
|
rs574641900
|
0.00004
|
|
NM_022455.5(NSD1):c.5007C>T (p.His1669=)
|
rs146414176
|
0.00004
|
|
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val)
|
rs746599803
|
0.00004
|
|
NM_022455.5(NSD1):c.6259-20G>A
|
rs369478260
|
0.00004
|
|
NM_022455.5(NSD1):c.7049T>C (p.Leu2350Pro)
|
rs750785772
|
0.00004
|
|
NM_022455.5(NSD1):c.708G>C (p.Gln236His)
|
rs28932175
|
0.00004
|
|
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile)
|
rs148027433
|
0.00004
|
|
NM_022455.5(NSD1):c.7403G>A (p.Arg2468Gln)
|
rs587784217
|
0.00004
|
|
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile)
|
rs373787813
|
0.00004
|
|
NM_024426.6(WT1):c.1016+15C>T
|
rs752756426
|
0.00004
|
|
NM_024426.6(WT1):c.1150G>A (p.Val384Ile)
|
rs977244044
|
0.00004
|
|
NM_024426.6(WT1):c.513C>A (p.Gly171=)
|
rs536728682
|
0.00004
|
|
NM_024426.6(WT1):c.70C>T (p.Arg24Cys)
|
rs878855086
|
0.00004
|
|
NM_024426.6(WT1):c.813G>C (p.Pro271=)
|
rs1341857958
|
0.00004
|
|
NM_024426.6(WT1):c.925A>G (p.Met309Val)
|
rs754336808
|
0.00004
|
|
NM_024426.6(WT1):c.965+14T>C
|
rs369920807
|
0.00004
|
|
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn)
|
rs772176483
|
0.00003
|
|
NM_000057.4(BLM):c.1245T>C (p.Asp415=)
|
rs768154708
|
0.00003
|
|
NM_000057.4(BLM):c.129A>G (p.Ser43=)
|
rs767605181
|
0.00003
|
|
NM_000057.4(BLM):c.1387G>A (p.Val463Ile)
|
rs1028963834
|
0.00003
|
|
NM_000057.4(BLM):c.1396G>A (p.Gly466Arg)
|
rs747760482
|
0.00003
|
|
NM_000057.4(BLM):c.1544A>C (p.Asn515Thr)
|
rs765536045
|
0.00003
|
|
NM_000057.4(BLM):c.1563A>G (p.Pro521=)
|
rs763118109
|
0.00003
|
|
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly)
|
rs370293537
|
0.00003
|
|
NM_000057.4(BLM):c.2106T>A (p.Pro702=)
|
rs529421306
|
0.00003
|
|
NM_000057.4(BLM):c.2307+13A>G
|
rs371859766
|
0.00003
|
|
NM_000057.4(BLM):c.2452C>G (p.Arg818Gly)
|
rs1279814185
|
0.00003
|
|
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys)
|
rs777842626
|
0.00003
|
|
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg)
|
rs762267785
|
0.00003
|
|
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)
|
rs1024172175
|
0.00003
|
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
|
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser)
|
rs770370129
|
0.00003
|
|
NM_000057.4(BLM):c.345G>A (p.Pro115=)
|
rs374578971
|
0.00003
|
|
NM_000057.4(BLM):c.3501G>A (p.Ala1167=)
|
rs752559933
|
0.00003
|
|
NM_000057.4(BLM):c.3729C>T (p.Thr1243=)
|
rs747293738
|
0.00003
|
|
NM_000057.4(BLM):c.3921C>T (p.Pro1307=)
|
rs149286215
|
0.00003
|
|
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg)
|
rs768010078
|
0.00003
|
|
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)
|
rs201149857
|
0.00003
|
|
NM_000057.4(BLM):c.403G>T (p.Ala135Ser)
|
rs373832397
|
0.00003
|
|
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)
|
rs587779891
|
0.00003
|
|
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His)
|
rs753800694
|
0.00003
|
|
NM_000057.4(BLM):c.799+16T>G
|
rs370608122
|
0.00003
|
|
NM_000057.4(BLM):c.820A>G (p.Asn274Asp)
|
rs750551907
|
0.00003
|
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
|
NM_001172509.2(SATB2):c.1174-6A>T
|
rs368537092
|
0.00003
|
|
NM_001172509.2(SATB2):c.1236A>G (p.Leu412=)
|
rs767544833
|
0.00003
|
|
NM_001172509.2(SATB2):c.1398G>A (p.Ser466=)
|
rs377059710
|
0.00003
|
|
NM_001172509.2(SATB2):c.1435G>A (p.Ala479Thr)
|
rs772617927
|
0.00003
|
|
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser)
|
rs201864116
|
0.00003
|
|
NM_001172509.2(SATB2):c.1542+13T>A
|
rs1046713591
|
0.00003
|
|
NM_001172509.2(SATB2):c.1551G>T (p.Leu517=)
|
rs760937399
|
0.00003
|
|
NM_001172509.2(SATB2):c.163G>C (p.Val55Leu)
|
rs748892556
|
0.00003
|
|
NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile)
|
rs1201673032
|
0.00003
|
|
NM_001172509.2(SATB2):c.172T>C (p.Leu58=)
|
rs761710516
|
0.00003
|
|
NM_001172509.2(SATB2):c.2103C>T (p.Asn701=)
|
rs529621505
|
0.00003
|
|
NM_001172509.2(SATB2):c.2182G>C (p.Ala728Pro)
|
rs377368865
|
0.00003
|
|
NM_001172509.2(SATB2):c.243C>T (p.His81=)
|
rs372121244
|
0.00003
|
|
NM_001172509.2(SATB2):c.45C>T (p.Asp15=)
|
rs771997100
|
0.00003
|
|
NM_001172509.2(SATB2):c.700+6C>T
|
rs755400212
|
0.00003
|
|
NM_001211.6(BUB1B):c.1058+9G>A
|
rs375125450
|
0.00003
|
|
NM_001211.6(BUB1B):c.1220T>G (p.Val407Gly)
|
rs750703763
|
0.00003
|
|
NM_001211.6(BUB1B):c.1288+5G>A
|
rs770077868
|
0.00003
|
|
NM_001211.6(BUB1B):c.1289-8G>A
|
rs375564551
|
0.00003
|
|
NM_001211.6(BUB1B):c.1308A>G (p.Ala436=)
|
rs756405366
|
0.00003
|
|
NM_001211.6(BUB1B):c.1368C>T (p.Ile456=)
|
rs201813238
|
0.00003
|
|
NM_001211.6(BUB1B):c.1535A>G (p.Glu512Gly)
|
rs747225593
|
0.00003
|
|
NM_001211.6(BUB1B):c.1847G>A (p.Arg616His)
|
rs556193159
|
0.00003
|
|
NM_001211.6(BUB1B):c.2072C>T (p.Ser691Leu)
|
rs200060772
|
0.00003
|
|
NM_001211.6(BUB1B):c.2092A>G (p.Ile698Val)
|
rs754481856
|
0.00003
|
|
NM_001211.6(BUB1B):c.2164T>C (p.Trp722Arg)
|
rs758664966
|
0.00003
|
|
NM_001211.6(BUB1B):c.2386-11A>G
|
rs751421137
|
0.00003
|
|
NM_001211.6(BUB1B):c.2536-9A>G
|
rs368585401
|
0.00003
|
|
NM_001211.6(BUB1B):c.2628A>G (p.Ala876=)
|
rs768648860
|
0.00003
|
|
NM_001211.6(BUB1B):c.2817A>G (p.Gln939=)
|
rs777802023
|
0.00003
|
|
NM_001211.6(BUB1B):c.387G>T (p.Gly129=)
|
rs149153123
|
0.00003
|
|
NM_001211.6(BUB1B):c.440T>C (p.Ile147Thr)
|
rs763623522
|
0.00003
|
|
NM_001211.6(BUB1B):c.484T>C (p.Tyr162His)
|
rs77520855
|
0.00003
|
|
NM_001211.6(BUB1B):c.517G>A (p.Ala173Thr)
|
rs756702953
|
0.00003
|
|
NM_001211.6(BUB1B):c.730C>T (p.Arg244Cys)
|
rs867444045
|
0.00003
|
|
NM_001211.6(BUB1B):c.814A>G (p.Ile272Val)
|
rs775204194
|
0.00003
|
|
NM_001211.6(BUB1B):c.846T>G (p.Ala282=)
|
rs773703818
|
0.00003
|
|
NM_001378120.1(MBD5):c.1074T>C (p.Leu358=)
|
rs751940096
|
0.00003
|
|
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala)
|
rs959566693
|
0.00003
|
|
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)
|
rs377568191
|
0.00003
|
|
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe)
|
rs768225923
|
0.00003
|
|
NM_001378120.1(MBD5):c.1327G>A (p.Val443Met)
|
rs137977565
|
0.00003
|
|
NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile)
|
rs748835022
|
0.00003
|
|
NM_001378120.1(MBD5):c.1367C>T (p.Ser456Leu)
|
rs775742332
|
0.00003
|
|
NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro)
|
rs775791197
|
0.00003
|
|
NM_001378120.1(MBD5):c.1849C>T (p.His617Tyr)
|
rs367876435
|
0.00003
|
|
NM_001378120.1(MBD5):c.1902A>G (p.Thr634=)
|
rs150800810
|
0.00003
|
|
NM_001378120.1(MBD5):c.1962C>T (p.Asp654=)
|
rs139953766
|
0.00003
|
|
NM_001378120.1(MBD5):c.2101A>G (p.Met701Val)
|
rs398124343
|
0.00003
|
|
NM_001378120.1(MBD5):c.2122A>G (p.Met708Val)
|
rs796052721
|
0.00003
|
|
NM_001378120.1(MBD5):c.2165G>A (p.Gly722Asp)
|
rs1276079664
|
0.00003
|
|
NM_001378120.1(MBD5):c.2371G>A (p.Gly791Arg)
|
rs769480362
|
0.00003
|
|
NM_001378120.1(MBD5):c.2519-17T>C
|
rs1038628491
|
0.00003
|
|
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser)
|
rs752445724
|
0.00003
|
|
NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg)
|
rs184415910
|
0.00003
|
|
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr)
|
rs769330358
|
0.00003
|
|
NM_001378120.1(MBD5):c.2621C>A (p.Ala874Glu)
|
rs907317201
|
0.00003
|
|
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)
|
rs200985982
|
0.00003
|
|
NM_001378120.1(MBD5):c.3603G>A (p.Ser1201=)
|
rs138058889
|
0.00003
|
|
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val)
|
rs773522192
|
0.00003
|
|
NM_001378120.1(MBD5):c.4047C>T (p.Pro1349=)
|
rs367766748
|
0.00003
|
|
NM_001378120.1(MBD5):c.4125G>A (p.Ala1375=)
|
rs142981321
|
0.00003
|
|
NM_001378120.1(MBD5):c.4215T>C (p.His1405=)
|
rs768977000
|
0.00003
|
|
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)
|
rs200245855
|
0.00003
|
|
NM_001378120.1(MBD5):c.4566C>T (p.His1522=)
|
rs1354346236
|
0.00003
|
|
NM_001378120.1(MBD5):c.4586G>A (p.Arg1529Gln)
|
rs727504000
|
0.00003
|
|
NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys)
|
rs373234696
|
0.00003
|
|
NM_001378120.1(MBD5):c.4746G>T (p.Val1582=)
|
rs138337378
|
0.00003
|
|
NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn)
|
rs750381367
|
0.00003
|
|
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=)
|
rs779662045
|
0.00003
|
|
NM_001378120.1(MBD5):c.4920C>T (p.Asp1640=)
|
rs768363712
|
0.00003
|
|
NM_001378120.1(MBD5):c.5058T>C (p.His1686=)
|
rs1466985995
|
0.00003
|
|
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val)
|
rs751251720
|
0.00003
|
|
NM_001378120.1(MBD5):c.81T>G (p.Arg27=)
|
rs746075256
|
0.00003
|
|
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)
|
rs368339420
|
0.00003
|
|
NM_001378120.1(MBD5):c.943T>G (p.Cys315Gly)
|
rs770076687
|
0.00003
|
|
NM_001378120.1(MBD5):c.961A>G (p.Met321Val)
|
rs369869865
|
0.00003
|
|
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln)
|
rs549715785
|
0.00003
|
|
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp)
|
rs756543718
|
0.00003
|
|
NM_001379200.1(TBX1):c.1359C>T (p.His453=)
|
rs1220689917
|
0.00003
|
|
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)
|
rs753192876
|
0.00003
|
|
NM_001379200.1(TBX1):c.1440A>C (p.Ala480=)
|
rs777313046
|
0.00003
|
|
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu)
|
rs1464455403
|
0.00003
|
|
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val)
|
rs1383914204
|
0.00003
|
|
NM_001379200.1(TBX1):c.540-17A>C
|
rs750770662
|
0.00003
|
|
NM_001379200.1(TBX1):c.540-7G>A
|
rs372179395
|
0.00003
|
|
NM_001379200.1(TBX1):c.711+7G>A
|
rs369332029
|
0.00003
|
|
NM_002397.5(MEF2C):c.1299G>C (p.Gly433=)
|
rs771241026
|
0.00003
|
|
NM_002397.5(MEF2C):c.225G>A (p.Pro75=)
|
rs779924552
|
0.00003
|
|
NM_002397.5(MEF2C):c.397T>C (p.Leu133=)
|
rs1345329569
|
0.00003
|
|
NM_002397.5(MEF2C):c.637+19C>G
|
rs371668591
|
0.00003
|
|
NM_002397.5(MEF2C):c.810+14A>G
|
rs376014780
|
0.00003
|
|
NM_014679.5(CEP57):c.1008A>G (p.Val336=)
|
rs933546735
|
0.00003
|
|
NM_014679.5(CEP57):c.1029T>A (p.Ser343Arg)
|
rs539891523
|
0.00003
|
|
NM_014679.5(CEP57):c.1171G>A (p.Val391Ile)
|
rs776303543
|
0.00003
|
|
NM_014679.5(CEP57):c.304A>G (p.Ile102Val)
|
rs760541284
|
0.00003
|
|
NM_014679.5(CEP57):c.37C>T (p.His13Tyr)
|
rs770949915
|
0.00003
|
|
NM_014679.5(CEP57):c.701T>G (p.Leu234Trp)
|
rs750192070
|
0.00003
|
|
NM_022455.5(NSD1):c.1830A>G (p.Gln610=)
|
rs759706066
|
0.00003
|
|
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)
|
rs773904155
|
0.00003
|
|
NM_022455.5(NSD1):c.3307G>A (p.Asp1103Asn)
|
rs746210838
|
0.00003
|
|
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)
|
rs570278983
|
0.00003
|
|
NM_022455.5(NSD1):c.3588G>T (p.Val1196=)
|
rs549662786
|
0.00003
|
|
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser)
|
rs372004424
|
0.00003
|
|
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln)
|
rs774868314
|
0.00003
|
|
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)
|
rs141911573
|
0.00003
|
|
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)
|
rs147235302
|
0.00003
|
|
NM_022455.5(NSD1):c.454C>T (p.His152Tyr)
|
rs765845162
|
0.00003
|
|
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile)
|
rs774169673
|
0.00003
|
|
NM_022455.5(NSD1):c.5532G>A (p.Arg1844=)
|
rs201357386
|
0.00003
|
|
NM_022455.5(NSD1):c.5934A>G (p.Glu1978=)
|
rs747791387
|
0.00003
|
|
NM_022455.5(NSD1):c.5967A>G (p.Gln1989=)
|
rs544317310
|
0.00003
|
|
NM_022455.5(NSD1):c.6001C>T (p.Leu2001=)
|
rs587784172
|
0.00003
|
|
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=)
|
rs745760201
|
0.00003
|
|
NM_022455.5(NSD1):c.6468A>G (p.Lys2156=)
|
rs752628095
|
0.00003
|
|
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala)
|
rs770522999
|
0.00003
|
|
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg)
|
rs539453877
|
0.00003
|
|
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu)
|
rs201609442
|
0.00003
|
|
NM_022455.5(NSD1):c.7452A>G (p.Pro2484=)
|
rs146676933
|
0.00003
|
|
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile)
|
rs770120153
|
0.00003
|
|
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)
|
rs575229932
|
0.00003
|
|
NM_024426.6(WT1):c.1017-8G>A
|
rs561297778
|
0.00003
|
|
NM_024426.6(WT1):c.1038C>T (p.Ser346=)
|
rs750018485
|
0.00003
|
|
NM_024426.6(WT1):c.1116T>C (p.Asp372=)
|
rs901264376
|
0.00003
|
|
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys)
|
rs1172760612
|
0.00003
|
|
NM_024426.6(WT1):c.1124G>A (p.Arg375His)
|
rs554416372
|
0.00003
|
|
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu)
|
rs1014605516
|
0.00003
|
|
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)
|
rs147241955
|
0.00003
|
|
NM_024426.6(WT1):c.151del (p.Ala51fs)
|
rs776155094
|
0.00003
|
|
NM_024426.6(WT1):c.258C>T (p.Pro86=)
|
rs1389359790
|
0.00003
|
|
NM_024426.6(WT1):c.273G>A (p.Leu91=)
|
rs1396104394
|
0.00003
|
|
NM_024426.6(WT1):c.327G>C (p.Pro109=)
|
rs777059515
|
0.00003
|
|
NM_024426.6(WT1):c.397C>A (p.Pro133Thr)
|
rs1202603651
|
0.00003
|
|
NM_024426.6(WT1):c.419C>T (p.Pro140Leu)
|
rs1164390603
|
0.00003
|
|
NM_024426.6(WT1):c.432C>T (p.Phe144=)
|
rs754173303
|
0.00003
|
|
NM_024426.6(WT1):c.475G>A (p.Glu159Lys)
|
rs768165877
|
0.00003
|
|
NM_024426.6(WT1):c.661+6T>C
|
rs557166021
|
0.00003
|
|
NM_080647.1(TBX1):c.15C>A (p.Thr5=)
|
rs764497467
|
0.00003
|
|
NM_000057.4(BLM):c.1134C>T (p.His378=)
|
rs757896754
|
0.00002
|
|
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr)
|
rs556577644
|
0.00002
|
|
NM_000057.4(BLM):c.1208A>G (p.Gln403Arg)
|
rs375342874
|
0.00002
|
|
NM_000057.4(BLM):c.1220+14C>T
|
rs762528536
|
0.00002
|
|
NM_000057.4(BLM):c.1220+9A>G
|
rs775121844
|
0.00002
|
|
NM_000057.4(BLM):c.1235C>T (p.Thr412Met)
|
rs775209685
|
0.00002
|
|
NM_000057.4(BLM):c.1236G>A (p.Thr412=)
|
rs762617509
|
0.00002
|
|
NM_000057.4(BLM):c.124T>C (p.Ser42Pro)
|
rs1291378382
|
0.00002
|
|
NM_000057.4(BLM):c.1308T>C (p.Asp436=)
|
rs140178590
|
0.00002
|
|
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro)
|
rs1033751385
|
0.00002
|
|
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)
|
rs374569385
|
0.00002
|
|
NM_000057.4(BLM):c.1964T>C (p.Met655Thr)
|
rs748567176
|
0.00002
|
|
NM_000057.4(BLM):c.203C>A (p.Thr68Asn)
|
rs144134597
|
0.00002
|
|
NM_000057.4(BLM):c.2078G>A (p.Gly693Asp)
|
rs771864442
|
0.00002
|
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
|
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)
|
rs750687788
|
0.00002
|
|
NM_000057.4(BLM):c.2194-14A>G
|
rs778980650
|
0.00002
|
|
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn)
|
rs779746222
|
0.00002
|
|
NM_000057.4(BLM):c.2407-9T>C
|
rs749544427
|
0.00002
|
|
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln)
|
rs763827222
|
0.00002
|
|
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg)
|
rs1454270314
|
0.00002
|
|
NM_000057.4(BLM):c.2633G>C (p.Cys878Ser)
|
rs966788239
|
0.00002
|
|
NM_000057.4(BLM):c.2655C>T (p.His885=)
|
rs1404506326
|
0.00002
|
|
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg)
|
rs1427273201
|
0.00002
|
|
NM_000057.4(BLM):c.2823+16A>C
|
rs375317070
|
0.00002
|
|
NM_000057.4(BLM):c.2871C>T (p.Asp957=)
|
rs878853554
|
0.00002
|
|
NM_000057.4(BLM):c.3019+11C>A
|
rs776916080
|
0.00002
|
|
NM_000057.4(BLM):c.3019+17T>C
|
rs532036885
|
0.00002
|
|
NM_000057.4(BLM):c.3019+7T>C
|
rs761087545
|
0.00002
|
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
|
NM_000057.4(BLM):c.3237C>T (p.Asp1079=)
|
rs148237075
|
0.00002
|
|
NM_000057.4(BLM):c.3299T>G (p.Ile1100Arg)
|
rs755282763
|
0.00002
|
|
NM_000057.4(BLM):c.3305A>G (p.His1102Arg)
|
rs778994524
|
0.00002
|
|
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp)
|
rs150784889
|
0.00002
|
|
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
|
rs587783037
|
0.00002
|
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
|
NM_000057.4(BLM):c.3504C>T (p.Ile1168=)
|
rs758199564
|
0.00002
|
|
NM_000057.4(BLM):c.3558+15A>G
|
rs557695835
|
0.00002
|
|
NM_000057.4(BLM):c.3559-13C>G
|
rs368473682
|
0.00002
|
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
|
NM_000057.4(BLM):c.3760T>G (p.Ser1254Ala)
|
rs781396294
|
0.00002
|
|
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu)
|
rs372134818
|
0.00002
|
|
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr)
|
rs1280067298
|
0.00002
|
|
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys)
|
rs730880251
|
0.00002
|
|
NM_000057.4(BLM):c.3951G>A (p.Glu1317=)
|
rs138188609
|
0.00002
|
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
|
NM_000057.4(BLM):c.397G>A (p.Asp133Asn)
|
rs762621627
|
0.00002
|
|
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)
|
rs761320085
|
0.00002
|
|
NM_000057.4(BLM):c.4128C>T (p.Ile1376=)
|
rs1314592673
|
0.00002
|
|
NM_000057.4(BLM):c.4237T>C (p.Ser1413Pro)
|
rs767443059
|
0.00002
|
|
NM_000057.4(BLM):c.467A>G (p.Asp156Gly)
|
rs772175681
|
0.00002
|
|
NM_000057.4(BLM):c.488C>T (p.Ser163Phe)
|
rs745819553
|
0.00002
|
|
NM_000057.4(BLM):c.493A>T (p.Thr165Ser)
|
rs769575660
|
0.00002
|
|
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)
|
rs918752814
|
0.00002
|
|
NM_000057.4(BLM):c.792T>C (p.Asp264=)
|
rs764442592
|
0.00002
|
|
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr)
|
rs750551907
|
0.00002
|
|
NM_000057.4(BLM):c.894G>A (p.Thr298=)
|
rs762144355
|
0.00002
|
|
NM_000057.4(BLM):c.914C>G (p.Pro305Arg)
|
rs773421970
|
0.00002
|
|
NM_000057.4(BLM):c.918A>G (p.Glu306=)
|
rs760806762
|
0.00002
|
|
NM_000057.4(BLM):c.963G>A (p.Thr321=)
|
rs779461745
|
0.00002
|
|
NM_001172509.2(SATB2):c.1060A>G (p.Thr354Ala)
|
rs764552856
|
0.00002
|
|
NM_001172509.2(SATB2):c.1212T>C (p.Pro404=)
|
rs1486060390
|
0.00002
|
|
NM_001172509.2(SATB2):c.121A>G (p.Met41Val)
|
rs919635073
|
0.00002
|
|
NM_001172509.2(SATB2):c.1239A>G (p.Val413=)
|
rs148608261
|
0.00002
|
|
NM_001172509.2(SATB2):c.1404G>A (p.Pro468=)
|
rs542911998
|
0.00002
|
|
NM_001172509.2(SATB2):c.1509C>T (p.Ala503=)
|
rs771083610
|
0.00002
|
|
NM_001172509.2(SATB2):c.1543-20G>A
|
rs776839849
|
0.00002
|
|
NM_001172509.2(SATB2):c.1740+16C>T
|
rs777264256
|
0.00002
|
|
NM_001172509.2(SATB2):c.1740+9C>T
|
rs745695602
|
0.00002
|
|
NM_001172509.2(SATB2):c.1761T>C (p.Ser587=)
|
rs752279524
|
0.00002
|
|
NM_001172509.2(SATB2):c.1830T>C (p.Ser610=)
|
rs759470075
|
0.00002
|
|
NM_001172509.2(SATB2):c.1842G>A (p.Lys614=)
|
rs756772038
|
0.00002
|
|
NM_001172509.2(SATB2):c.1851T>C (p.Ser617=)
|
rs188200171
|
0.00002
|
|
NM_001172509.2(SATB2):c.1938C>T (p.His646=)
|
rs764543183
|
0.00002
|
|
NM_001172509.2(SATB2):c.2007C>T (p.His669=)
|
rs764418629
|
0.00002
|
|
NM_001172509.2(SATB2):c.2046C>T (p.Ser682=)
|
rs1378818036
|
0.00002
|
|
NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val)
|
rs1451743452
|
0.00002
|
|
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser)
|
rs756865617
|
0.00002
|
|
NM_001172509.2(SATB2):c.2135A>G (p.Lys712Arg)
|
rs999561200
|
0.00002
|
|
NM_001172509.2(SATB2):c.381C>T (p.Pro127=)
|
rs746473092
|
0.00002
|
|
NM_001172509.2(SATB2):c.411G>A (p.Ala137=)
|
rs781353036
|
0.00002
|
|
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser)
|
rs1333077167
|
0.00002
|
|
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr)
|
rs773467832
|
0.00002
|
|
NM_001172509.2(SATB2):c.756A>G (p.Pro252=)
|
rs375364851
|
0.00002
|
|
NM_001172509.2(SATB2):c.846C>T (p.Ile282=)
|
rs373578751
|
0.00002
|
|
NM_001172509.2(SATB2):c.915A>G (p.Gln305=)
|
rs1440871358
|
0.00002
|
|
NM_001211.6(BUB1B):c.1262G>A (p.Arg421Gln)
|
rs150983783
|
0.00002
|
|
NM_001211.6(BUB1B):c.1401+18A>G
|
rs2037541338
|
0.00002
|
|
NM_001211.6(BUB1B):c.1444A>G (p.Ile482Val)
|
rs780725534
|
0.00002
|
|
NM_001211.6(BUB1B):c.1628+4C>T
|
rs1029721957
|
0.00002
|
|
NM_001211.6(BUB1B):c.1706C>T (p.Ser569Leu)
|
rs750961031
|
0.00002
|
|
NM_001211.6(BUB1B):c.1875A>G (p.Ile625Met)
|
rs541881263
|
0.00002
|
|
NM_001211.6(BUB1B):c.199C>T (p.Arg67Ter)
|
rs200884355
|
0.00002
|
|
NM_001211.6(BUB1B):c.2143+16C>A
|
rs768994715
|
0.00002
|
|
NM_001211.6(BUB1B):c.2143+20A>G
|
rs993334844
|
0.00002
|
|
NM_001211.6(BUB1B):c.2385+7C>T
|
rs779458273
|
0.00002
|
|
NM_001211.6(BUB1B):c.2477A>G (p.Tyr826Cys)
|
rs1268467915
|
0.00002
|
|
NM_001211.6(BUB1B):c.2481A>G (p.Gln827=)
|
rs76294284
|
0.00002
|
|
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)
|
rs28989181
|
0.00002
|
|
NM_001211.6(BUB1B):c.2760G>C (p.Val920=)
|
rs151035388
|
0.00002
|
|
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly)
|
rs755941900
|
0.00002
|
|
NM_001211.6(BUB1B):c.2958-10A>G
|
rs759331631
|
0.00002
|
|
NM_001211.6(BUB1B):c.3020C>G (p.Ala1007Gly)
|
rs370506288
|
0.00002
|
|
NM_001211.6(BUB1B):c.3074C>T (p.Thr1025Ile)
|
rs770219125
|
0.00002
|
|
NM_001211.6(BUB1B):c.3082C>G (p.Gln1028Glu)
|
rs2037890025
|
0.00002
|
|
NM_001211.6(BUB1B):c.3113T>C (p.Val1038Ala)
|
rs776542291
|
0.00002
|
|
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter)
|
rs769350713
|
0.00002
|
|
NM_001211.6(BUB1B):c.341G>A (p.Arg114Gln)
|
rs1372115983
|
0.00002
|
|
NM_001211.6(BUB1B):c.388C>T (p.Arg130Cys)
|
rs587778144
|
0.00002
|
|
NM_001211.6(BUB1B):c.389G>A (p.Arg130His)
|
rs748721987
|
0.00002
|
|
NM_001211.6(BUB1B):c.44T>C (p.Met15Thr)
|
rs1392369693
|
0.00002
|
|
NM_001211.6(BUB1B):c.463T>C (p.Tyr155His)
|
rs761819521
|
0.00002
|
|
NM_001211.6(BUB1B):c.572C>A (p.Ser191Tyr)
|
rs587778145
|
0.00002
|
|
NM_001211.6(BUB1B):c.576G>A (p.Gln192=)
|
rs761648006
|
0.00002
|
|
NM_001211.6(BUB1B):c.581G>A (p.Arg194Gln)
|
rs567916146
|
0.00002
|
|
NM_001211.6(BUB1B):c.611C>G (p.Thr204Ser)
|
rs780541154
|
0.00002
|
|
NM_001211.6(BUB1B):c.751+4A>G
|
rs1248348421
|
0.00002
|
|
NM_001211.6(BUB1B):c.751+9G>A
|
rs372133651
|
0.00002
|
|
NM_001211.6(BUB1B):c.810T>C (p.Ser270=)
|
rs1205669680
|
0.00002
|
|
NM_001211.6(BUB1B):c.892C>T (p.Pro298Ser)
|
rs756759220
|
0.00002
|
|
NM_001211.6(BUB1B):c.922C>G (p.Leu308Val)
|
rs781357180
|
0.00002
|
|
NM_001211.6(BUB1B):c.954C>A (p.Ser318=)
|
rs556678544
|
0.00002
|
|
NM_001378120.1(MBD5):c.1008A>G (p.Pro336=)
|
rs1451243161
|
0.00002
|
|
NM_001378120.1(MBD5):c.1377A>G (p.Arg459=)
|
rs762047019
|
0.00002
|
|
NM_001378120.1(MBD5):c.1510A>G (p.Met504Val)
|
rs114251920
|
0.00002
|
|
NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp)
|
rs757922781
|
0.00002
|
|
NM_001378120.1(MBD5):c.1606C>G (p.Pro536Ala)
|
rs748471992
|
0.00002
|
|
NM_001378120.1(MBD5):c.1653A>G (p.Val551=)
|
rs765225789
|
0.00002
|
|
NM_001378120.1(MBD5):c.1700A>G (p.Asn567Ser)
|
rs116095017
|
0.00002
|
|
NM_001378120.1(MBD5):c.1803C>T (p.Ser601=)
|
rs772321704
|
0.00002
|
|
NM_001378120.1(MBD5):c.1827C>T (p.Ala609=)
|
rs761655364
|
0.00002
|
|
NM_001378120.1(MBD5):c.1873C>T (p.Pro625Ser)
|
rs749574412
|
0.00002
|
|
NM_001378120.1(MBD5):c.1920T>C (p.Gly640=)
|
rs1031744379
|
0.00002
|
|
NM_001378120.1(MBD5):c.2274C>T (p.Ala758=)
|
rs374820728
|
0.00002
|
|
NM_001378120.1(MBD5):c.2286C>T (p.His762=)
|
rs370574043
|
0.00002
|
|
NM_001378120.1(MBD5):c.2396C>T (p.Ser799Leu)
|
rs759990854
|
0.00002
|
|
NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser)
|
rs1358383505
|
0.00002
|
|
NM_001378120.1(MBD5):c.258C>T (p.Thr86=)
|
rs542137271
|
0.00002
|
|
NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu)
|
rs766460176
|
0.00002
|
|
NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala)
|
rs752535474
|
0.00002
|
|
NM_001378120.1(MBD5):c.2678G>A (p.Gly893Asp)
|
rs753761893
|
0.00002
|
|
NM_001378120.1(MBD5):c.2751C>G (p.Ser917Arg)
|
rs935799783
|
0.00002
|
|
NM_001378120.1(MBD5):c.2770A>G (p.Ile924Val)
|
rs150408488
|
0.00002
|
|
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro)
|
rs564759063
|
0.00002
|
|
NM_001378120.1(MBD5):c.3569C>A (p.Thr1190Asn)
|
rs774999439
|
0.00002
|
|
NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser)
|
rs754193314
|
0.00002
|
|
NM_001378120.1(MBD5):c.3585A>G (p.Gln1195=)
|
rs762160418
|
0.00002
|
|
NM_001378120.1(MBD5):c.3586C>G (p.Leu1196Val)
|
rs765790042
|
0.00002
|
|
NM_001378120.1(MBD5):c.379A>C (p.Ser127Arg)
|
rs781432636
|
0.00002
|
|
NM_001378120.1(MBD5):c.3847C>G (p.Pro1283Ala)
|
rs764468729
|
0.00002
|
|
NM_001378120.1(MBD5):c.3924C>T (p.Leu1308=)
|
rs146096552
|
0.00002
|
|
NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=)
|
rs762115057
|
0.00002
|
|
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro)
|
rs200395037
|
0.00002
|
|
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp)
|
rs142293829
|
0.00002
|
|
NM_001378120.1(MBD5):c.4306C>T (p.Pro1436Ser)
|
rs776446296
|
0.00002
|
|
NM_001378120.1(MBD5):c.4319G>A (p.Arg1440Gln)
|
rs139042949
|
0.00002
|
|
NM_001378120.1(MBD5):c.4351C>T (p.His1451Tyr)
|
rs753060251
|
0.00002
|
|
NM_001378120.1(MBD5):c.476C>T (p.Ser159Phe)
|
rs780774076
|
0.00002
|
|
NM_001378120.1(MBD5):c.4811C>T (p.Ser1604Phe)
|
rs774820392
|
0.00002
|
|
NM_001378120.1(MBD5):c.5092C>T (p.Leu1698=)
|
rs763196924
|
0.00002
|
|
NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=)
|
rs755570293
|
0.00002
|
|
NM_001378120.1(MBD5):c.675G>A (p.Ala225=)
|
rs775582219
|
0.00002
|
|
NM_001378120.1(MBD5):c.707C>T (p.Ser236Leu)
|
rs766179352
|
0.00002
|
|
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly)
|
rs767317924
|
0.00002
|
|
NM_001378120.1(MBD5):c.720G>A (p.Arg240=)
|
rs727503997
|
0.00002
|
|
NM_001378120.1(MBD5):c.917A>G (p.Lys306Arg)
|
rs1278028464
|
0.00002
|
|
NM_001378120.1(MBD5):c.936A>C (p.Lys312Asn)
|
rs142815487
|
0.00002
|
|
NM_001378120.1(MBD5):c.952T>C (p.Ser318Pro)
|
rs745715010
|
0.00002
|
|
NM_001379200.1(TBX1):c.1041G>T (p.Ala347=)
|
rs1381402015
|
0.00002
|
|
NM_001379200.1(TBX1):c.1170C>T (p.Gly390=)
|
rs1936852453
|
0.00002
|
|
NM_001379200.1(TBX1):c.1186G>C (p.Gly396Arg)
|
rs1377774172
|
0.00002
|
|
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly)
|
rs745858331
|
0.00002
|
|
NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg)
|
rs767961877
|
0.00002
|
|
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp)
|
rs1177085596
|
0.00002
|
|
NM_001379200.1(TBX1):c.1386C>A (p.His462Gln)
|
rs1172793466
|
0.00002
|
|
NM_001379200.1(TBX1):c.1433C>T (p.Ala478Val)
|
rs757867291
|
0.00002
|
|
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His)
|
rs746250147
|
0.00002
|
|
NM_001379200.1(TBX1):c.1485G>T (p.Pro495=)
|
rs750574356
|
0.00002
|
|
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg)
|
rs756769832
|
0.00002
|
|
NM_001379200.1(TBX1):c.270C>A (p.Ser90Arg)
|
rs1478778776
|
0.00002
|
|
NM_001379200.1(TBX1):c.286G>C (p.Glu96Gln)
|
rs762629442
|
0.00002
|
|
NM_001379200.1(TBX1):c.393G>A (p.Glu131=)
|
rs892270450
|
0.00002
|
|
NM_001379200.1(TBX1):c.472G>A (p.Gly158Ser)
|
rs909599095
|
0.00002
|
|
NM_001379200.1(TBX1):c.540-12G>A
|
rs1243576480
|
0.00002
|
|
NM_001379200.1(TBX1):c.543C>T (p.Tyr181=)
|
rs772390067
|
0.00002
|
|
NM_001379200.1(TBX1):c.582C>T (p.Ala194=)
|
rs775502763
|
0.00002
|
|
NM_001379200.1(TBX1):c.618G>A (p.Pro206=)
|
rs1177792242
|
0.00002
|
|
NM_001379200.1(TBX1):c.922G>C (p.Asp308His)
|
rs750330152
|
0.00002
|
|
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser)
|
rs1359119941
|
0.00002
|
|
NM_002397.5(MEF2C):c.1020C>T (p.Ser340=)
|
rs756799434
|
0.00002
|
|
NM_002397.5(MEF2C):c.1100+3A>G
|
rs779821248
|
0.00002
|
|
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)
|
rs781632867
|
0.00002
|
|
NM_002397.5(MEF2C):c.615G>A (p.Thr205=)
|
rs776496777
|
0.00002
|
|
NM_002397.5(MEF2C):c.639G>C (p.Gly213=)
|
rs757188352
|
0.00002
|
|
NM_002397.5(MEF2C):c.810+10A>T
|
rs587783748
|
0.00002
|
|
NM_002397.5(MEF2C):c.822C>T (p.Val274=)
|
rs1282449699
|
0.00002
|
|
NM_002397.5(MEF2C):c.834+16G>A
|
rs760064638
|
0.00002
|
|
NM_002397.5(MEF2C):c.994T>C (p.Ser332Pro)
|
rs200887424
|
0.00002
|
|
NM_014679.5(CEP57):c.1128-10T>C
|
rs754694620
|
0.00002
|
|
NM_014679.5(CEP57):c.1214T>C (p.Val405Ala)
|
rs763862458
|
0.00002
|
|
NM_014679.5(CEP57):c.1246A>G (p.Thr416Ala)
|
rs1370845733
|
0.00002
|
|
NM_014679.5(CEP57):c.1292A>C (p.Glu431Ala)
|
rs367799359
|
0.00002
|
|
NM_014679.5(CEP57):c.1354A>C (p.Ser452Arg)
|
rs1328502690
|
0.00002
|
|
NM_014679.5(CEP57):c.1415A>G (p.Glu472Gly)
|
rs554513774
|
0.00002
|
|
NM_014679.5(CEP57):c.1488G>C (p.Leu496Phe)
|
rs756433197
|
0.00002
|
|
NM_014679.5(CEP57):c.226C>G (p.Leu76Val)
|
rs368273217
|
0.00002
|
|
NM_014679.5(CEP57):c.23C>T (p.Ala8Val)
|
rs751018904
|
0.00002
|
|
NM_014679.5(CEP57):c.245G>A (p.Arg82His)
|
rs140149031
|
0.00002
|
|
NM_014679.5(CEP57):c.444A>C (p.Glu148Asp)
|
rs763144202
|
0.00002
|
|
NM_014679.5(CEP57):c.452G>A (p.Arg151Gln)
|
rs774404375
|
0.00002
|
|
NM_014679.5(CEP57):c.458T>C (p.Met153Thr)
|
rs759867272
|
0.00002
|
|
NM_014679.5(CEP57):c.46-8T>A
|
rs755051766
|
0.00002
|
|
NM_014679.5(CEP57):c.504A>G (p.Gln168=)
|
rs754676360
|
0.00002
|
|
NM_014679.5(CEP57):c.524G>A (p.Arg175Gln)
|
rs768997831
|
0.00002
|
|
NM_014679.5(CEP57):c.581A>G (p.Gln194Arg)
|
rs1467274670
|
0.00002
|
|
NM_014679.5(CEP57):c.628A>G (p.Met210Val)
|
rs374700509
|
0.00002
|
|
NM_014679.5(CEP57):c.633A>G (p.Gln211=)
|
rs200535773
|
0.00002
|
|
NM_014679.5(CEP57):c.670A>G (p.Arg224Gly)
|
rs755140070
|
0.00002
|
|
NM_014679.5(CEP57):c.752C>T (p.Pro251Leu)
|
rs779531903
|
0.00002
|
|
NM_022455.5(NSD1):c.1176C>T (p.Phe392=)
|
rs763543904
|
0.00002
|
|
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr)
|
rs587784075
|
0.00002
|
|
NM_022455.5(NSD1):c.1500A>G (p.Arg500=)
|
rs1469000222
|
0.00002
|
|
NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly)
|
rs1046371505
|
0.00002
|
|
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu)
|
rs780179136
|
0.00002
|
|
NM_022455.5(NSD1):c.1992A>G (p.Glu664=)
|
rs770274186
|
0.00002
|
|
NM_022455.5(NSD1):c.209T>G (p.Ile70Ser)
|
rs760029045
|
0.00002
|
|
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys)
|
rs771456995
|
0.00002
|
|
NM_022455.5(NSD1):c.222A>G (p.Arg74=)
|
rs201780407
|
0.00002
|
|
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu)
|
rs773591859
|
0.00002
|
|
NM_022455.5(NSD1):c.241A>G (p.Met81Val)
|
rs763781326
|
0.00002
|
|
NM_022455.5(NSD1):c.2991C>T (p.Gly997=)
|
rs751017119
|
0.00002
|
|
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)
|
rs1406037834
|
0.00002
|
|
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr)
|
rs202208033
|
0.00002
|
|
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln)
|
rs753389957
|
0.00002
|
|
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp)
|
rs771467409
|
0.00002
|
|
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=)
|
rs587784136
|
0.00002
|
|
NM_022455.5(NSD1):c.5147-20A>C
|
rs1239151310
|
0.00002
|
|
NM_022455.5(NSD1):c.5510-10G>A
|
rs767198805
|
0.00002
|
|
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)
|
rs776592297
|
0.00002
|
|
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)
|
rs754309202
|
0.00002
|
|
NM_022455.5(NSD1):c.7164G>A (p.Pro2388=)
|
rs780619128
|
0.00002
|
|
NM_022455.5(NSD1):c.7696A>G (p.Thr2566Ala)
|
rs778841211
|
0.00002
|
|
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)
|
rs147033795
|
0.00002
|
|
NM_022455.5(NSD1):c.8025A>G (p.Gln2675=)
|
rs199895437
|
0.00002
|
|
NM_024426.6(WT1):c.1017-4G>C
|
rs1043846933
|
0.00002
|
|
NM_024426.6(WT1):c.1092C>A (p.His364Gln)
|
rs587778756
|
0.00002
|
|
NM_024426.6(WT1):c.1114-15A>T
|
rs776971636
|
0.00002
|
|
NM_024426.6(WT1):c.1121G>A (p.Arg374Gln)
|
rs772590420
|
0.00002
|
|
NM_024426.6(WT1):c.1264+13G>A
|
rs769034786
|
0.00002
|
|
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln)
|
rs144788858
|
0.00002
|
|
NM_024426.6(WT1):c.146G>T (p.Gly49Val)
|
rs1475923286
|
0.00002
|
|
NM_024426.6(WT1):c.1515C>A (p.Val505=)
|
rs1338629886
|
0.00002
|
|
NM_024426.6(WT1):c.1563G>A (p.Ala521=)
|
rs202118284
|
0.00002
|
|
NM_024426.6(WT1):c.159C>T (p.Ala53=)
|
rs1021307133
|
0.00002
|
|
NM_024426.6(WT1):c.198G>T (p.Ala66=)
|
rs955105743
|
0.00002
|
|
NM_024426.6(WT1):c.218A>T (p.Gln73Leu)
|
rs1036899554
|
0.00002
|
|
NM_024426.6(WT1):c.248C>T (p.Ala83Val)
|
rs1278102757
|
0.00002
|
|
NM_024426.6(WT1):c.297G>A (p.Leu99=)
|
rs1407193832
|
0.00002
|
|
NM_024426.6(WT1):c.406C>A (p.Pro136Thr)
|
rs748045691
|
0.00002
|
|
NM_024426.6(WT1):c.417G>A (p.Pro139=)
|
rs758361767
|
0.00002
|
|
NM_024426.6(WT1):c.586G>A (p.Gly196Ser)
|
rs756501972
|
0.00002
|
|
NM_024426.6(WT1):c.587G>A (p.Gly196Asp)
|
rs753112302
|
0.00002
|
|
NM_024426.6(WT1):c.627C>T (p.Ser209=)
|
rs761530541
|
0.00002
|
|
NM_024426.6(WT1):c.628T>G (p.Cys210Gly)
|
rs776426005
|
0.00002
|
|
NM_024426.6(WT1):c.675C>T (p.Val225=)
|
rs1172028723
|
0.00002
|
|
NM_024426.6(WT1):c.687G>C (p.Gly229=)
|
rs760001898
|
0.00002
|
|
NM_024426.6(WT1):c.711C>T (p.Pro237=)
|
rs183263057
|
0.00002
|
|
NM_024426.6(WT1):c.714G>T (p.Ser238=)
|
rs772409488
|
0.00002
|
|
NM_024426.6(WT1):c.736A>G (p.Asn246Asp)
|
rs1285224919
|
0.00002
|
|
NM_024426.6(WT1):c.779C>T (p.Ser260Leu)
|
rs1444869026
|
0.00002
|
|
NM_024426.6(WT1):c.784+11G>A
|
rs376463157
|
0.00002
|
|
NM_024426.6(WT1):c.78G>A (p.Gly26=)
|
rs1240715155
|
0.00002
|
|
NM_024426.6(WT1):c.806C>G (p.Pro269Arg)
|
rs756078681
|
0.00002
|
|
NM_024426.6(WT1):c.830C>T (p.Thr277Ile)
|
rs138073760
|
0.00002
|
|
NM_024426.6(WT1):c.852C>G (p.Gly284=)
|
rs548704325
|
0.00002
|
|
NM_024426.6(WT1):c.887+4G>A
|
rs778673400
|
0.00002
|
|
NM_024426.6(WT1):c.996A>G (p.Lys332=)
|
rs758410591
|
0.00002
|
|
NM_000057.4(BLM):c.1006A>G (p.Ser336Gly)
|
rs1567037959
|
0.00001
|
|
NM_000057.4(BLM):c.1010C>T (p.Thr337Ile)
|
rs1176242752
|
0.00001
|
|
NM_000057.4(BLM):c.1027T>G (p.Ser343Ala)
|
rs776620199
|
0.00001
|
|
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn)
|
rs148701303
|
0.00001
|
|
NM_000057.4(BLM):c.1038G>A (p.Glu346=)
|
rs1181692024
|
0.00001
|
|
NM_000057.4(BLM):c.1039A>G (p.Lys347Glu)
|
rs375250788
|
0.00001
|
|
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter)
|
rs369583279
|
0.00001
|
|
NM_000057.4(BLM):c.106A>G (p.Thr36Ala)
|
rs1714362154
|
0.00001
|
|
NM_000057.4(BLM):c.1088-15A>G
|
rs757626398
|
0.00001
|
|
NM_000057.4(BLM):c.1088-20A>G
|
rs1895929728
|
0.00001
|
|
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys)
|
rs1374291628
|
0.00001
|
|
NM_000057.4(BLM):c.1117A>G (p.Ile373Val)
|
rs766212032
|
0.00001
|
|
NM_000057.4(BLM):c.1154C>A (p.Thr385Asn)
|
rs202009716
|
0.00001
|
|
NM_000057.4(BLM):c.1156A>G (p.Ile386Val)
|
rs757636363
|
0.00001
|
|
NM_000057.4(BLM):c.1191G>C (p.Gly397=)
|
rs780393464
|
0.00001
|
|
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp)
|
rs770721765
|
0.00001
|
|
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln)
|
rs776516663
|
0.00001
|
|
NM_000057.4(BLM):c.1220+17C>T
|
rs763676199
|
0.00001
|
|
NM_000057.4(BLM):c.1220+5C>G
|
rs1596229075
|
0.00001
|
|
NM_000057.4(BLM):c.1220G>T (p.Arg407Ile)
|
rs1350192744
|
0.00001
|
|
NM_000057.4(BLM):c.1223G>A (p.Arg408Lys)
|
rs1338335954
|
0.00001
|
|
NM_000057.4(BLM):c.122C>T (p.Thr41Ile)
|
rs533736036
|
0.00001
|
|
NM_000057.4(BLM):c.1238A>T (p.Glu413Val)
|
rs1215111361
|
0.00001
|
|
NM_000057.4(BLM):c.1266T>C (p.Ser422=)
|
rs1895947616
|
0.00001
|
|
NM_000057.4(BLM):c.1275C>A (p.Gly425=)
|
rs1475915995
|
0.00001
|
|
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu)
|
rs768127491
|
0.00001
|
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
|
NM_000057.4(BLM):c.1288T>C (p.Tyr430His)
|
rs1314473930
|
0.00001
|
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
|
NM_000057.4(BLM):c.1303C>T (p.Leu435Phe)
|
rs755256088
|
0.00001
|
|
NM_000057.4(BLM):c.1305T>C (p.Leu435=)
|
rs778967807
|
0.00001
|
|
NM_000057.4(BLM):c.1337C>A (p.Thr446Lys)
|
rs1447973805
|
0.00001
|
|
NM_000057.4(BLM):c.1348A>G (p.Met450Val)
|
rs200385935
|
0.00001
|
|
NM_000057.4(BLM):c.137A>G (p.Asn46Ser)
|
rs1237910576
|
0.00001
|
|
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile)
|
rs1281556342
|
0.00001
|
|
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala)
|
rs1596229797
|
0.00001
|
|
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile)
|
rs761284618
|
0.00001
|
|
NM_000057.4(BLM):c.1419C>T (p.Thr473=)
|
rs200051680
|
0.00001
|
|
NM_000057.4(BLM):c.1432G>A (p.Gly478Arg)
|
rs1490929990
|
0.00001
|
|
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala)
|
rs759810567
|
0.00001
|
|
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys)
|
rs1418071613
|
0.00001
|
|
NM_000057.4(BLM):c.1459T>C (p.Phe487Leu)
|
rs765565919
|
0.00001
|
|
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)
|
rs764182382
|
0.00001
|
|
NM_000057.4(BLM):c.1480A>G (p.Thr494Ala)
|
rs1596229967
|
0.00001
|
|
NM_000057.4(BLM):c.1482C>A (p.Thr494=)
|
rs1596229985
|
0.00001
|
|
NM_000057.4(BLM):c.1486T>C (p.Leu496=)
|
rs1596229989
|
0.00001
|
|
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
|
rs368547042
|
0.00001
|
|
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe)
|
rs778700833
|
0.00001
|
|
NM_000057.4(BLM):c.1497C>T (p.Ser499=)
|
rs540772424
|
0.00001
|
|
NM_000057.4(BLM):c.1502T>A (p.Val501Glu)
|
rs1247170438
|
0.00001
|
|
NM_000057.4(BLM):c.1536A>G (p.Gly512=)
|
rs777277614
|
0.00001
|
|
NM_000057.4(BLM):c.1541A>G (p.Lys514Arg)
|
rs550463714
|
0.00001
|
|
NM_000057.4(BLM):c.1551C>T (p.Ser517=)
|
rs775878725
|
0.00001
|
|
NM_000057.4(BLM):c.1566A>G (p.Gly522=)
|
rs1895965477
|
0.00001
|
|
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile)
|
rs1385248707
|
0.00001
|
|
NM_000057.4(BLM):c.159A>G (p.Ser53=)
|
rs753606820
|
0.00001
|
|
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro)
|
rs1318049766
|
0.00001
|
|
NM_000057.4(BLM):c.1613C>T (p.Ala538Val)
|
rs778593808
|
0.00001
|
|
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile)
|
rs758161226
|
0.00001
|
|
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys)
|
rs746571244
|
0.00001
|
|
NM_000057.4(BLM):c.1661A>T (p.Asp554Val)
|
rs1266070433
|
0.00001
|
|
NM_000057.4(BLM):c.1674A>T (p.Ile558=)
|
rs770573584
|
0.00001
|
|
NM_000057.4(BLM):c.1677T>A (p.Asp559Glu)
|
rs780794194
|
0.00001
|
|
NM_000057.4(BLM):c.1695T>C (p.Asp565=)
|
rs1343910502
|
0.00001
|
|
NM_000057.4(BLM):c.1708A>T (p.Ile570Leu)
|
rs775758928
|
0.00001
|
|
NM_000057.4(BLM):c.1724C>T (p.Ala575Val)
|
rs774551420
|
0.00001
|
|
NM_000057.4(BLM):c.1739C>G (p.Ser580Cys)
|
rs1895974290
|
0.00001
|
|
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala)
|
rs587778108
|
0.00001
|
|
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys)
|
rs765187809
|
0.00001
|
|
NM_000057.4(BLM):c.1769G>C (p.Gly590Ala)
|
rs758250947
|
0.00001
|
|
NM_000057.4(BLM):c.1771C>T (p.Arg591Trp)
|
rs777647725
|
0.00001
|
|
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln)
|
rs28385012
|
0.00001
|
|
NM_000057.4(BLM):c.1774C>T (p.Pro592Ser)
|
rs1197143678
|
0.00001
|
|
NM_000057.4(BLM):c.1784C>T (p.Ser595Leu)
|
rs138943954
|
0.00001
|
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
|
NM_000057.4(BLM):c.1791A>G (p.Ser597=)
|
rs1895976551
|
0.00001
|
|
NM_000057.4(BLM):c.1797A>G (p.Arg599=)
|
rs745353821
|
0.00001
|
|
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp)
|
rs1207886252
|
0.00001
|
|
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)
|
rs770255643
|
0.00001
|
|
NM_000057.4(BLM):c.182G>C (p.Arg61Thr)
|
rs1060500644
|
0.00001
|
|
NM_000057.4(BLM):c.1833A>G (p.Ser611=)
|
rs747181657
|
0.00001
|
|
NM_000057.4(BLM):c.1841C>T (p.Ala614Val)
|
rs1285727934
|
0.00001
|
|
NM_000057.4(BLM):c.1849A>T (p.Ile617Leu)
|
rs1219301379
|
0.00001
|
|
NM_000057.4(BLM):c.1854C>T (p.Asn618=)
|
rs371519654
|
0.00001
|
|
NM_000057.4(BLM):c.1863G>A (p.Glu621=)
|
rs374965438
|
0.00001
|
|
NM_000057.4(BLM):c.186T>G (p.Asn62Lys)
|
rs146735953
|
0.00001
|
|
NM_000057.4(BLM):c.1878T>C (p.Tyr626=)
|
rs1176677177
|
0.00001
|
|
NM_000057.4(BLM):c.1882+20A>T
|
rs773201778
|
0.00001
|
|
NM_000057.4(BLM):c.1905A>G (p.Ala635=)
|
rs747122267
|
0.00001
|
|
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr)
|
rs587778110
|
0.00001
|
|
NM_000057.4(BLM):c.1926G>A (p.Glu642=)
|
rs763017658
|
0.00001
|
|
NM_000057.4(BLM):c.1954A>G (p.Thr652Ala)
|
rs779368359
|
0.00001
|
|
NM_000057.4(BLM):c.1955C>G (p.Thr652Arg)
|
rs1475280501
|
0.00001
|
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
|
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu)
|
rs758782238
|
0.00001
|
|
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)
|
rs747281324
|
0.00001
|
|
NM_000057.4(BLM):c.2017C>T (p.Leu673=)
|
rs1896030349
|
0.00001
|
|
NM_000057.4(BLM):c.2038C>T (p.Leu680=)
|
rs1250342410
|
0.00001
|
|
NM_000057.4(BLM):c.2041C>T (p.Leu681Phe)
|
rs768774375
|
0.00001
|
|
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp)
|
rs1342307269
|
0.00001
|
|
NM_000057.4(BLM):c.204C>T (p.Thr68=)
|
rs199927688
|
0.00001
|
|
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala)
|
rs1262628899
|
0.00001
|
|
NM_000057.4(BLM):c.2058T>C (p.Phe686=)
|
rs748410729
|
0.00001
|
|
NM_000057.4(BLM):c.2070G>A (p.Pro690=)
|
rs148078150
|
0.00001
|
|
NM_000057.4(BLM):c.2075-1G>A
|
rs1231598990
|
0.00001
|
|
NM_000057.4(BLM):c.2075G>T (p.Gly692Val)
|
rs1200392081
|
0.00001
|
|
NM_000057.4(BLM):c.2087G>A (p.Ser696Asn)
|
rs773097986
|
0.00001
|
|
NM_000057.4(BLM):c.2118T>C (p.Ser706=)
|
rs1896094006
|
0.00001
|
|
NM_000057.4(BLM):c.214T>G (p.Ser72Ala)
|
rs146521411
|
0.00001
|
|
NM_000057.4(BLM):c.2161G>A (p.Val721Ile)
|
rs559554788
|
0.00001
|
|
NM_000057.4(BLM):c.2169A>G (p.Gln723=)
|
rs781635047
|
0.00001
|
|
NM_000057.4(BLM):c.2182A>G (p.Thr728Ala)
|
rs1440142847
|
0.00001
|
|
NM_000057.4(BLM):c.2193+17C>T
|
rs749297090
|
0.00001
|
|
NM_000057.4(BLM):c.2193+19A>G
|
rs374456610
|
0.00001
|
|
NM_000057.4(BLM):c.2193+9T>C
|
rs780311860
|
0.00001
|
|
NM_000057.4(BLM):c.2193T>G (p.Asp731Glu)
|
rs756354696
|
0.00001
|
|
NM_000057.4(BLM):c.2194-20T>C
|
rs754006696
|
0.00001
|
|
NM_000057.4(BLM):c.2194-6A>G
|
rs946104255
|
0.00001
|
|
NM_000057.4(BLM):c.2202T>C (p.Ala734=)
|
rs1596235728
|
0.00001
|
|
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys)
|
rs781008303
|
0.00001
|
|
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
|
rs933356579
|
0.00001
|
|
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg)
|
rs1474290499
|
0.00001
|
|
NM_000057.4(BLM):c.2241A>G (p.Thr747=)
|
rs1060503987
|
0.00001
|
|
NM_000057.4(BLM):c.2244T>C (p.Asn748=)
|
rs1223636319
|
0.00001
|
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
|
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)
|
rs1400231534
|
0.00001
|
|
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
|
rs773761682
|
0.00001
|
|
NM_000057.4(BLM):c.2277C>T (p.Ile759=)
|
rs761106964
|
0.00001
|
|
NM_000057.4(BLM):c.227C>T (p.Pro76Leu)
|
rs774515970
|
0.00001
|
|
NM_000057.4(BLM):c.2289A>G (p.Leu763=)
|
rs1567044034
|
0.00001
|
|
NM_000057.4(BLM):c.2307+10T>G
|
rs755168095
|
0.00001
|
|
NM_000057.4(BLM):c.2308-5C>T
|
rs957805754
|
0.00001
|
|
NM_000057.4(BLM):c.2308-6G>A
|
rs1219227761
|
0.00001
|
|
NM_000057.4(BLM):c.2310C>T (p.Ile770=)
|
rs759705000
|
0.00001
|
|
NM_000057.4(BLM):c.2321A>G (p.Asn774Ser)
|
rs1245556905
|
0.00001
|
|
NM_000057.4(BLM):c.2325A>G (p.Arg775=)
|
rs1182162934
|
0.00001
|
|
NM_000057.4(BLM):c.2326C>T (p.Leu776Phe)
|
rs1483824560
|
0.00001
|
|
NM_000057.4(BLM):c.2340G>A (p.Leu780=)
|
rs756031754
|
0.00001
|
|
NM_000057.4(BLM):c.2347C>T (p.Leu783Phe)
|
rs1430052148
|
0.00001
|
|
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys)
|
rs753635754
|
0.00001
|
|
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys)
|
rs369065966
|
0.00001
|
|
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg)
|
rs778695045
|
0.00001
|
|
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe)
|
rs1060500651
|
0.00001
|
|
NM_000057.4(BLM):c.2370A>G (p.Ala790=)
|
rs747537954
|
0.00001
|
|
NM_000057.4(BLM):c.2372G>A (p.Arg791His)
|
rs1322472868
|
0.00001
|
|
NM_000057.4(BLM):c.2381T>C (p.Ile794Thr)
|
rs373819952
|
0.00001
|
|
NM_000057.4(BLM):c.2397T>C (p.Cys799=)
|
rs771209978
|
0.00001
|
|
NM_000057.4(BLM):c.2406+12T>C
|
rs988984153
|
0.00001
|
|
NM_000057.4(BLM):c.2407-20G>A
|
rs374279601
|
0.00001
|
|
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)
|
rs148394770
|
0.00001
|
|
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys)
|
rs759330541
|
0.00001
|
|
NM_000057.4(BLM):c.2423G>A (p.Arg808His)
|
rs1399382807
|
0.00001
|
|
NM_000057.4(BLM):c.2428G>C (p.Asp810His)
|
rs765143263
|
0.00001
|
|
NM_000057.4(BLM):c.2446A>G (p.Met816Val)
|
rs751100504
|
0.00001
|
|
NM_000057.4(BLM):c.2447T>A (p.Met816Lys)
|
rs1896237707
|
0.00001
|
|
NM_000057.4(BLM):c.2453G>A (p.Arg818His)
|
rs780514723
|
0.00001
|
|
NM_000057.4(BLM):c.2454C>G (p.Arg818=)
|
rs746409922
|
0.00001
|
|
NM_000057.4(BLM):c.2456A>G (p.Gln819Arg)
|
rs1265964518
|
0.00001
|
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
|
NM_000057.4(BLM):c.2489C>T (p.Thr830Met)
|
rs759545027
|
0.00001
|
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
|
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr)
|
rs763918749
|
0.00001
|
|
NM_000057.4(BLM):c.2505C>G (p.Pro835=)
|
rs1023396216
|
0.00001
|
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
|
NM_000057.4(BLM):c.2517G>A (p.Lys839=)
|
rs1353519492
|
0.00001
|
|
NM_000057.4(BLM):c.2524C>A (p.Leu842Met)
|
rs1209722688
|
0.00001
|
|
NM_000057.4(BLM):c.252A>G (p.Gln84=)
|
rs370062646
|
0.00001
|
|
NM_000057.4(BLM):c.2546G>A (p.Arg849Lys)
|
rs780523899
|
0.00001
|
|
NM_000057.4(BLM):c.2550T>C (p.Pro850=)
|
rs749718344
|
0.00001
|
|
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu)
|
rs767638712
|
0.00001
|
|
NM_000057.4(BLM):c.2555+15G>A
|
rs376896850
|
0.00001
|
|
NM_000057.4(BLM):c.2555+20G>A
|
rs762930185
|
0.00001
|
|
NM_000057.4(BLM):c.2555+8G>A
|
rs1388713132
|
0.00001
|
|
NM_000057.4(BLM):c.2560A>G (p.Ser854Gly)
|
rs752969832
|
0.00001
|
|
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)
|
rs758692622
|
0.00001
|
|
NM_000057.4(BLM):c.2604G>A (p.Pro868=)
|
rs768447097
|
0.00001
|
|
NM_000057.4(BLM):c.2610G>A (p.Lys870=)
|
rs905435014
|
0.00001
|
|
NM_000057.4(BLM):c.261G>A (p.Lys87=)
|
rs372668612
|
0.00001
|
|
NM_000057.4(BLM):c.2635C>G (p.Leu879Val)
|
rs1461606733
|
0.00001
|
|
NM_000057.4(BLM):c.2647A>C (p.Arg883=)
|
rs1035944262
|
0.00001
|
|
NM_000057.4(BLM):c.264C>A (p.Asp88Glu)
|
rs757984551
|
0.00001
|
|
NM_000057.4(BLM):c.2656C>A (p.His886Asn)
|
rs765636566
|
0.00001
|
|
NM_000057.4(BLM):c.2657A>C (p.His886Pro)
|
rs1420145471
|
0.00001
|
|
NM_000057.4(BLM):c.2661A>G (p.Pro887=)
|
rs753160480
|
0.00001
|
|
NM_000057.4(BLM):c.2662+13A>G
|
rs778144758
|
0.00001
|
|
NM_000057.4(BLM):c.2662+8C>G
|
rs1330037075
|
0.00001
|
|
NM_000057.4(BLM):c.2662T>C (p.Tyr888His)
|
rs758696992
|
0.00001
|
|
NM_000057.4(BLM):c.2663-1G>C
|
rs1444037196
|
0.00001
|
|
NM_000057.4(BLM):c.2663-5G>C
|
rs1161787867
|
0.00001
|
|
NM_000057.4(BLM):c.2674A>G (p.Ile892Val)
|
rs764587569
|
0.00001
|
|
NM_000057.4(BLM):c.2679T>C (p.Ile893=)
|
rs751945434
|
0.00001
|
|
NM_000057.4(BLM):c.267C>T (p.Phe89=)
|
rs758297574
|
0.00001
|
|
NM_000057.4(BLM):c.2691C>T (p.Ser897=)
|
rs756155242
|
0.00001
|
|
NM_000057.4(BLM):c.2709C>A (p.Thr903=)
|
rs1555422522
|
0.00001
|
|
NM_000057.4(BLM):c.2717A>T (p.Asp906Val)
|
rs996189487
|
0.00001
|
|
NM_000057.4(BLM):c.2732A>G (p.Asp911Gly)
|
rs1596252149
|
0.00001
|
|
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr)
|
rs372013507
|
0.00001
|
|
NM_000057.4(BLM):c.2744C>T (p.Ala915Val)
|
rs775026151
|
0.00001
|
|
NM_000057.4(BLM):c.2763C>T (p.Gly921=)
|
rs1170782980
|
0.00001
|
|
NM_000057.4(BLM):c.2784T>C (p.Asp928=)
|
rs1032746564
|
0.00001
|
|
NM_000057.4(BLM):c.2787A>G (p.Glu929=)
|
rs764679551
|
0.00001
|
|
NM_000057.4(BLM):c.2803A>G (p.Ile935Val)
|
rs774916971
|
0.00001
|
|
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp)
|
rs1422513540
|
0.00001
|
|
NM_000057.4(BLM):c.2823+2T>A
|
rs1896712920
|
0.00001
|
|
NM_000057.4(BLM):c.2823+8T>C
|
rs767928947
|
0.00001
|
|
NM_000057.4(BLM):c.2824-18C>A
|
rs958623858
|
0.00001
|
|
NM_000057.4(BLM):c.2824-2A>T
|
rs745538883
|
0.00001
|
|
NM_000057.4(BLM):c.2827A>G (p.Ile943Val)
|
rs1301812486
|
0.00001
|
|
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu)
|
rs962069708
|
0.00001
|
|
NM_000057.4(BLM):c.2868G>A (p.Pro956=)
|
rs199861261
|
0.00001
|
|
NM_000057.4(BLM):c.2872G>A (p.Val958Met)
|
rs775006576
|
0.00001
|
|
NM_000057.4(BLM):c.2876G>A (p.Arg959Gln)
|
rs772585415
|
0.00001
|
|
NM_000057.4(BLM):c.2894C>G (p.Ser965Cys)
|
rs1567056595
|
0.00001
|
|
NM_000057.4(BLM):c.2915G>T (p.Gly972Val)
|
rs150475674
|
0.00001
|
|
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu)
|
rs757148522
|
0.00001
|
|
NM_000057.4(BLM):c.2956A>G (p.Ile986Val)
|
rs1567056667
|
0.00001
|
|
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser)
|
rs371418699
|
0.00001
|
|
NM_000057.4(BLM):c.2979T>C (p.Tyr993=)
|
rs1896887595
|
0.00001
|
|
NM_000057.4(BLM):c.2983T>C (p.Tyr995His)
|
rs142723411
|
0.00001
|
|
NM_000057.4(BLM):c.2985T>C (p.Tyr995=)
|
rs1367612540
|
0.00001
|
|
NM_000057.4(BLM):c.2987A>G (p.His996Arg)
|
rs1451226538
|
0.00001
|
|
NM_000057.4(BLM):c.3013_3019+4del
|
rs765392662
|
0.00001
|
|
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr)
|
rs772671554
|
0.00001
|
|
NM_000057.4(BLM):c.3017T>C (p.Met1006Thr)
|
rs1896890020
|
0.00001
|
|
NM_000057.4(BLM):c.3019+16T>C
|
rs759695033
|
0.00001
|
|
NM_000057.4(BLM):c.3019+6C>G
|
rs773494621
|
0.00001
|
|
NM_000057.4(BLM):c.3020-11A>G
|
rs1331229405
|
0.00001
|
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
|
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)
|
rs1244649224
|
0.00001
|
|
NM_000057.4(BLM):c.302G>C (p.Arg101Thr)
|
rs781707344
|
0.00001
|
|
NM_000057.4(BLM):c.3042T>C (p.His1014=)
|
rs1060503986
|
0.00001
|
|
NM_000057.4(BLM):c.3060C>T (p.Phe1020=)
|
rs763020597
|
0.00001
|
|
NM_000057.4(BLM):c.3076A>G (p.Met1026Val)
|
rs766225961
|
0.00001
|
|
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile)
|
rs1300299815
|
0.00001
|
|
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr)
|
rs1060500647
|
0.00001
|
|
NM_000057.4(BLM):c.309A>T (p.Gly103=)
|
rs1596218155
|
0.00001
|
|
NM_000057.4(BLM):c.3103G>C (p.Glu1035Gln)
|
rs764965627
|
0.00001
|
|
NM_000057.4(BLM):c.3110G>A (p.Arg1037Lys)
|
rs990520268
|
0.00001
|
|
NM_000057.4(BLM):c.311C>T (p.Ser104Leu)
|
rs367543030
|
0.00001
|
|
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys)
|
rs747571272
|
0.00001
|
|
NM_000057.4(BLM):c.3172C>G (p.His1058Asp)
|
rs1351087442
|
0.00001
|
|
NM_000057.4(BLM):c.3195T>C (p.Asn1065=)
|
rs1297274221
|
0.00001
|
|
NM_000057.4(BLM):c.3210+10G>T
|
rs765057634
|
0.00001
|
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
|
NM_000057.4(BLM):c.3211-11T>C
|
rs1205725795
|
0.00001
|
|
NM_000057.4(BLM):c.3211-14C>G
|
rs756488961
|
0.00001
|
|
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr)
|
rs794727180
|
0.00001
|
|
NM_000057.4(BLM):c.3221C>T (p.Thr1074Ile)
|
rs144021705
|
0.00001
|
|
NM_000057.4(BLM):c.3226G>A (p.Asp1076Asn)
|
rs1306187879
|
0.00001
|
|
NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly)
|
rs776714693
|
0.00001
|
|
NM_000057.4(BLM):c.3240T>C (p.Asp1080=)
|
rs1436960569
|
0.00001
|
|
NM_000057.4(BLM):c.3252T>C (p.Ile1084=)
|
rs751147296
|
0.00001
|
|
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)
|
rs1396484162
|
0.00001
|
|
NM_000057.4(BLM):c.3271C>T (p.His1091Tyr)
|
rs766959096
|
0.00001
|
|
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu)
|
rs367543017
|
0.00001
|
|
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter)
|
rs1472603091
|
0.00001
|
|
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys)
|
rs912777535
|
0.00001
|
|
NM_000057.4(BLM):c.3298A>G (p.Ile1100Val)
|
rs1897079693
|
0.00001
|
|
NM_000057.4(BLM):c.329A>G (p.Asp110Gly)
|
rs1292239409
|
0.00001
|
|
NM_000057.4(BLM):c.3307G>A (p.Val1103Ile)
|
rs748331529
|
0.00001
|
|
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala)
|
rs1481919924
|
0.00001
|
|
NM_000057.4(BLM):c.3317C>G (p.Ser1106Cys)
|
rs769834593
|
0.00001
|
|
NM_000057.4(BLM):c.3331A>G (p.Met1111Val)
|
rs1169507483
|
0.00001
|
|
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro)
|
rs1444338168
|
0.00001
|
|
NM_000057.4(BLM):c.3345C>T (p.Val1115=)
|
rs773893026
|
0.00001
|
|
NM_000057.4(BLM):c.3348C>T (p.Asp1116=)
|
rs372697241
|
0.00001
|
|
NM_000057.4(BLM):c.3358+15T>C
|
rs761215968
|
0.00001
|
|
NM_000057.4(BLM):c.3358+16T>C
|
rs766854886
|
0.00001
|
|
NM_000057.4(BLM):c.3359-17C>T
|
rs1001673659
|
0.00001
|
|
NM_000057.4(BLM):c.3359-9T>C
|
rs1060503988
|
0.00001
|
|
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly)
|
rs751765688
|
0.00001
|
|
NM_000057.4(BLM):c.3396A>G (p.Gly1132=)
|
rs1897213577
|
0.00001
|
|
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln)
|
rs771776126
|
0.00001
|
|
NM_000057.4(BLM):c.343C>T (p.Pro115Ser)
|
rs1173491187
|
0.00001
|
|
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr)
|
rs1378138456
|
0.00001
|
|
NM_000057.4(BLM):c.344C>T (p.Pro115Leu)
|
rs371100621
|
0.00001
|
|
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe)
|
rs1469527799
|
0.00001
|
|
NM_000057.4(BLM):c.3454G>T (p.Asp1152Tyr)
|
rs1156919580
|
0.00001
|
|
NM_000057.4(BLM):c.3468T>C (p.Asp1156=)
|
rs1325465971
|
0.00001
|
|
NM_000057.4(BLM):c.3474C>T (p.Asp1158=)
|
rs1158977476
|
0.00001
|
|
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His)
|
rs752389778
|
0.00001
|
|
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser)
|
rs1237460907
|
0.00001
|
|
NM_000057.4(BLM):c.3491A>G (p.Asn1164Ser)
|
rs751855048
|
0.00001
|
|
NM_000057.4(BLM):c.3492T>C (p.Asn1164=)
|
rs762058424
|
0.00001
|
|
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)
|
rs777492549
|
0.00001
|
|
NM_000057.4(BLM):c.3509A>C (p.Tyr1170Ser)
|
rs746692894
|
0.00001
|
|
NM_000057.4(BLM):c.3510T>C (p.Tyr1170=)
|
rs771325448
|
0.00001
|
|
NM_000057.4(BLM):c.3513G>A (p.Val1171=)
|
rs780615126
|
0.00001
|
|
NM_000057.4(BLM):c.3519C>T (p.Leu1173=)
|
rs769119431
|
0.00001
|
|
NM_000057.4(BLM):c.3534A>G (p.Gln1178=)
|
rs769177306
|
0.00001
|
|
NM_000057.4(BLM):c.353T>C (p.Val118Ala)
|
rs768933887
|
0.00001
|
|
NM_000057.4(BLM):c.3558+3A>G
|
rs766386042
|
0.00001
|
|
NM_000057.4(BLM):c.3559G>A (p.Val1187Ile)
|
rs547814390
|
0.00001
|
|
NM_000057.4(BLM):c.3568A>G (p.Met1190Val)
|
rs764005828
|
0.00001
|
|
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr)
|
rs1555424373
|
0.00001
|
|
NM_000057.4(BLM):c.3572A>G (p.Glu1191Gly)
|
rs1897232513
|
0.00001
|
|
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)
|
rs1023322113
|
0.00001
|
|
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val)
|
rs757088548
|
0.00001
|
|
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)
|
rs151114049
|
0.00001
|
|
NM_000057.4(BLM):c.3636A>C (p.Glu1212Asp)
|
rs1897234564
|
0.00001
|
|
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys)
|
rs28385142
|
0.00001
|
|
NM_000057.4(BLM):c.3642G>A (p.Met1214Ile)
|
rs377253486
|
0.00001
|
|
NM_000057.4(BLM):c.3655C>G (p.Leu1219Val)
|
rs960821931
|
0.00001
|
|
NM_000057.4(BLM):c.3660A>G (p.Gly1220=)
|
rs779564538
|
0.00001
|
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
|
NM_000057.4(BLM):c.3690G>A (p.Gly1230=)
|
rs1177156588
|
0.00001
|
|
NM_000057.4(BLM):c.3699T>C (p.Phe1233=)
|
rs773406498
|
0.00001
|
|
NM_000057.4(BLM):c.3727dup (p.Thr1243fs)
|
rs367543021
|
0.00001
|
|
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile)
|
rs972145772
|
0.00001
|
|
NM_000057.4(BLM):c.372C>T (p.Asn124=)
|
rs776602757
|
0.00001
|
|
NM_000057.4(BLM):c.3752-13T>G
|
rs778248812
|
0.00001
|
|
NM_000057.4(BLM):c.3752-6G>A
|
rs747358693
|
0.00001
|
|
NM_000057.4(BLM):c.3756T>A (p.Ser1252=)
|
rs771209895
|
0.00001
|
|
NM_000057.4(BLM):c.377C>T (p.Pro126Leu)
|
rs1060500650
|
0.00001
|
|
NM_000057.4(BLM):c.3822T>C (p.Tyr1274=)
|
rs578242272
|
0.00001
|
|
NM_000057.4(BLM):c.3825T>C (p.Gly1275=)
|
rs1330805869
|
0.00001
|
|
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val)
|
rs760554566
|
0.00001
|
|
NM_000057.4(BLM):c.3840A>G (p.Ser1280=)
|
rs759221501
|
0.00001
|
|
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser)
|
rs1060500645
|
0.00001
|
|
NM_000057.4(BLM):c.3867A>G (p.Thr1289=)
|
rs759000443
|
0.00001
|
|
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu)
|
rs1031421025
|
0.00001
|
|
NM_000057.4(BLM):c.3874+12G>A
|
rs563655888
|
0.00001
|
|
NM_000057.4(BLM):c.3874+14C>T
|
rs200469326
|
0.00001
|
|
NM_000057.4(BLM):c.3874+18del
|
rs760501703
|
0.00001
|
|
NM_000057.4(BLM):c.3874+19G>A
|
rs1352718454
|
0.00001
|
|
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr)
|
rs757641454
|
0.00001
|
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
|
NM_000057.4(BLM):c.3875-6T>C
|
rs1021714718
|
0.00001
|
|
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly)
|
rs746979958
|
0.00001
|
|
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg)
|
rs587779889
|
0.00001
|
|
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu)
|
rs750865930
|
0.00001
|
|
NM_000057.4(BLM):c.3924A>T (p.Gly1308=)
|
rs1019687102
|
0.00001
|
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
|
NM_000057.4(BLM):c.394C>T (p.Arg132Trp)
|
rs765089689
|
0.00001
|
|
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr)
|
rs748943489
|
0.00001
|
|
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile)
|
rs1222912167
|
0.00001
|
|
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)
|
rs190652985
|
0.00001
|
|
NM_000057.4(BLM):c.4017G>C (p.Met1339Ile)
|
rs1247422719
|
0.00001
|
|
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu)
|
rs766959130
|
0.00001
|
|
NM_000057.4(BLM):c.4023C>T (p.Ala1341=)
|
rs1596273681
|
0.00001
|
|
NM_000057.4(BLM):c.4024T>C (p.Ser1342Pro)
|
rs1596273687
|
0.00001
|
|
NM_000057.4(BLM):c.4025C>T (p.Ser1342Phe)
|
rs761200006
|
0.00001
|
|
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg)
|
rs1060500646
|
0.00001
|
|
NM_000057.4(BLM):c.405T>C (p.Ala135=)
|
rs1489975728
|
0.00001
|
|
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg)
|
rs945181516
|
0.00001
|
|
NM_000057.4(BLM):c.4076+3A>G
|
rs758564326
|
0.00001
|
|
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu)
|
rs1308799871
|
0.00001
|
|
NM_000057.4(BLM):c.4087A>G (p.Thr1363Ala)
|
rs1897524369
|
0.00001
|
|
NM_000057.4(BLM):c.4088C>T (p.Thr1363Ile)
|
rs1060500649
|
0.00001
|
|
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly)
|
rs759982203
|
0.00001
|
|
NM_000057.4(BLM):c.4094G>A (p.Arg1365Lys)
|
rs753011288
|
0.00001
|
|
NM_000057.4(BLM):c.4116A>C (p.Lys1372Asn)
|
rs753664070
|
0.00001
|
|
NM_000057.4(BLM):c.4119C>G (p.Ser1373=)
|
rs1210181566
|
0.00001
|
|
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr)
|
rs1555425416
|
0.00001
|
|
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg)
|
rs747834576
|
0.00001
|
|
NM_000057.4(BLM):c.4144G>C (p.Ala1382Pro)
|
rs771686396
|
0.00001
|
|
NM_000057.4(BLM):c.4158T>G (p.Ser1386=)
|
rs746522338
|
0.00001
|
|
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)
|
rs548600410
|
0.00001
|
|
NM_000057.4(BLM):c.417A>G (p.Leu139=)
|
rs756759106
|
0.00001
|
|
NM_000057.4(BLM):c.4188G>A (p.Leu1396=)
|
rs1226163466
|
0.00001
|
|
NM_000057.4(BLM):c.4198G>A (p.Ala1400Thr)
|
rs370588118
|
0.00001
|
|
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu)
|
rs770313956
|
0.00001
|
|
NM_000057.4(BLM):c.4206G>A (p.Pro1402=)
|
rs775975894
|
0.00001
|
|
NM_000057.4(BLM):c.4250C>T (p.Ser1417Leu)
|
rs1897533974
|
0.00001
|
|
NM_000057.4(BLM):c.437A>T (p.Asp146Val)
|
rs902876126
|
0.00001
|
|
NM_000057.4(BLM):c.44G>A (p.Arg15His)
|
rs752755503
|
0.00001
|
|
NM_000057.4(BLM):c.453C>A (p.Ile151=)
|
rs1200887609
|
0.00001
|
|
NM_000057.4(BLM):c.45T>C (p.Arg15=)
|
rs1458732220
|
0.00001
|
|
NM_000057.4(BLM):c.470T>C (p.Met157Thr)
|
rs773103759
|
0.00001
|
|
NM_000057.4(BLM):c.472G>A (p.Asp158Asn)
|
rs1210664602
|
0.00001
|
|
NM_000057.4(BLM):c.499A>G (p.Lys167Glu)
|
rs775285496
|
0.00001
|
|
NM_000057.4(BLM):c.506T>G (p.Phe169Cys)
|
rs1013299710
|
0.00001
|
|
NM_000057.4(BLM):c.528C>T (p.His176=)
|
rs1414955135
|
0.00001
|
|
NM_000057.4(BLM):c.540A>T (p.Val180=)
|
rs763776756
|
0.00001
|
|
NM_000057.4(BLM):c.555A>T (p.Lys185Asn)
|
rs766947105
|
0.00001
|
|
NM_000057.4(BLM):c.558A>C (p.Ser186=)
|
rs982183816
|
0.00001
|
|
NM_000057.4(BLM):c.566G>A (p.Gly189Asp)
|
rs754306004
|
0.00001
|
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
|
NM_000057.4(BLM):c.577T>C (p.Phe193Leu)
|
rs779348937
|
0.00001
|
|
NM_000057.4(BLM):c.607A>G (p.Thr203Ala)
|
rs1060500633
|
0.00001
|
|
NM_000057.4(BLM):c.609A>G (p.Thr203=)
|
rs1448719185
|
0.00001
|
|
NM_000057.4(BLM):c.632C>T (p.Pro211Leu)
|
rs758478914
|
0.00001
|
|
NM_000057.4(BLM):c.635C>T (p.Ser212Phe)
|
rs777938065
|
0.00001
|
|
NM_000057.4(BLM):c.641A>G (p.Glu214Gly)
|
rs1230930956
|
0.00001
|
|
NM_000057.4(BLM):c.646G>A (p.Glu216Lys)
|
rs779934502
|
0.00001
|
|
NM_000057.4(BLM):c.656A>G (p.Asp219Gly)
|
rs1246909789
|
0.00001
|
|
NM_000057.4(BLM):c.657T>G (p.Asp219Glu)
|
rs1447056195
|
0.00001
|
|
NM_000057.4(BLM):c.671A>C (p.Gln224Pro)
|
rs770111029
|
0.00001
|
|
NM_000057.4(BLM):c.671A>G (p.Gln224Arg)
|
rs770111029
|
0.00001
|
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
|
NM_000057.4(BLM):c.700G>A (p.Asp234Asn)
|
rs878853555
|
0.00001
|
|
NM_000057.4(BLM):c.702T>C (p.Asp234=)
|
rs1271054585
|
0.00001
|
|
NM_000057.4(BLM):c.711C>T (p.Cys237=)
|
rs752961612
|
0.00001
|
|
NM_000057.4(BLM):c.716A>G (p.Asp239Gly)
|
rs751699247
|
0.00001
|
|
NM_000057.4(BLM):c.725C>G (p.Pro242Arg)
|
rs1060500642
|
0.00001
|
|
NM_000057.4(BLM):c.727A>G (p.Ile243Val)
|
rs201722470
|
0.00001
|
|
NM_000057.4(BLM):c.763A>G (p.Ser255Gly)
|
rs1567035814
|
0.00001
|
|
NM_000057.4(BLM):c.790G>A (p.Asp264Asn)
|
rs763195731
|
0.00001
|
|
NM_000057.4(BLM):c.803A>G (p.Asn268Ser)
|
rs763432949
|
0.00001
|
|
NM_000057.4(BLM):c.805A>G (p.Ser269Gly)
|
rs141411463
|
0.00001
|
|
NM_000057.4(BLM):c.870A>G (p.Glu290=)
|
rs757016773
|
0.00001
|
|
NM_000057.4(BLM):c.888T>C (p.Tyr296=)
|
rs139277089
|
0.00001
|
|
NM_000057.4(BLM):c.896A>G (p.Asp299Gly)
|
rs1418306226
|
0.00001
|
|
NM_000057.4(BLM):c.909T>C (p.Pro303=)
|
rs767770187
|
0.00001
|
|
NM_000057.4(BLM):c.931G>T (p.Ala311Ser)
|
rs753911420
|
0.00001
|
|
NM_000057.4(BLM):c.933T>C (p.Ala311=)
|
rs1413246062
|
0.00001
|
|
NM_000057.4(BLM):c.959+17A>G
|
rs1263627625
|
0.00001
|
|
NM_000057.4(BLM):c.959+7T>C
|
rs1274044135
|
0.00001
|
|
NM_000057.4(BLM):c.960-8A>G
|
rs1895773501
|
0.00001
|
|
NM_000057.4(BLM):c.98+6T>G
|
rs886051550
|
0.00001
|
|
NM_000057.4(BLM):c.992A>C (p.Lys331Thr)
|
rs1351404875
|
0.00001
|
|
NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr)
|
rs754385480
|
0.00001
|
|
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met)
|
rs765504446
|
0.00001
|
|
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)
|
rs886041516
|
0.00001
|
|
NM_001172509.2(SATB2):c.1320C>T (p.Ser440=)
|
rs770384540
|
0.00001
|
|
NM_001172509.2(SATB2):c.1322T>C (p.Met441Thr)
|
rs1294387707
|
0.00001
|
|
NM_001172509.2(SATB2):c.1379C>A (p.Thr460Asn)
|
rs1329250891
|
0.00001
|
|
NM_001172509.2(SATB2):c.1380C>T (p.Thr460=)
|
rs996522781
|
0.00001
|
|
NM_001172509.2(SATB2):c.1386+13C>T
|
rs1403696762
|
0.00001
|
|
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)
|
rs780366664
|
0.00001
|
|
NM_001172509.2(SATB2):c.1402C>A (p.Pro468Thr)
|
rs770212471
|
0.00001
|
|
NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu)
|
rs746076990
|
0.00001
|
|
NM_001172509.2(SATB2):c.1428G>A (p.Val476=)
|
rs753471227
|
0.00001
|
|
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser)
|
rs1302645769
|
0.00001
|
|
NM_001172509.2(SATB2):c.1447A>G (p.Ile483Val)
|
rs1367720345
|
0.00001
|
|
NM_001172509.2(SATB2):c.1543-10C>G
|
rs747190227
|
0.00001
|
|
NM_001172509.2(SATB2):c.1543-6C>G
|
rs1328592029
|
0.00001
|
|
NM_001172509.2(SATB2):c.156C>T (p.Ala52=)
|
rs1401683566
|
0.00001
|
|
NM_001172509.2(SATB2):c.1624C>T (p.Arg542Cys)
|
rs767163210
|
0.00001
|
|
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys)
|
rs756719862
|
0.00001
|
|
NM_001172509.2(SATB2):c.1656G>A (p.Arg552=)
|
rs763647963
|
0.00001
|
|
NM_001172509.2(SATB2):c.1671G>C (p.Glu557Asp)
|
rs377609161
|
0.00001
|
|
NM_001172509.2(SATB2):c.169+7G>A
|
rs1038173269
|
0.00001
|
|
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)
|
rs1042085577
|
0.00001
|
|
NM_001172509.2(SATB2):c.1734G>A (p.Pro578=)
|
rs937895148
|
0.00001
|
|
NM_001172509.2(SATB2):c.1749T>C (p.His583=)
|
rs199854906
|
0.00001
|
|
NM_001172509.2(SATB2):c.1770C>A (p.Ala590=)
|
rs143857389
|
0.00001
|
|
NM_001172509.2(SATB2):c.1773G>A (p.Lys591=)
|
rs371490566
|
0.00001
|
|
NM_001172509.2(SATB2):c.1827C>T (p.Asp609=)
|
rs1268971989
|
0.00001
|
|
NM_001172509.2(SATB2):c.1999C>A (p.Arg667=)
|
rs751977362
|
0.00001
|
|
NM_001172509.2(SATB2):c.2047G>A (p.Ala683Thr)
|
rs372032415
|
0.00001
|
|
NM_001172509.2(SATB2):c.2073C>T (p.Asp691=)
|
rs1692184330
|
0.00001
|
|
NM_001172509.2(SATB2):c.2145T>C (p.Ala715=)
|
rs753933552
|
0.00001
|
|
NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn)
|
rs915648697
|
0.00001
|
|
NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr)
|
rs551624897
|
0.00001
|
|
NM_001172509.2(SATB2):c.2183C>G (p.Ala728Gly)
|
rs140532313
|
0.00001
|
|
NM_001172509.2(SATB2):c.2196G>T (p.Gln732His)
|
rs778160560
|
0.00001
|
|
NM_001172509.2(SATB2):c.223T>C (p.Tyr75His)
|
rs760905348
|
0.00001
|
|
NM_001172509.2(SATB2):c.267A>G (p.Lys89=)
|
rs991579763
|
0.00001
|
|
NM_001172509.2(SATB2):c.303C>G (p.Leu101=)
|
rs770551232
|
0.00001
|
|
NM_001172509.2(SATB2):c.33G>A (p.Arg11=)
|
rs1361297597
|
0.00001
|
|
NM_001172509.2(SATB2):c.342C>A (p.Ala114=)
|
rs756540212
|
0.00001
|
|
NM_001172509.2(SATB2):c.346+15C>T
|
rs1389213053
|
0.00001
|
|
NM_001172509.2(SATB2):c.372C>T (p.Asn124=)
|
rs770710917
|
0.00001
|
|
NM_001172509.2(SATB2):c.389A>G (p.Tyr130Cys)
|
rs372822699
|
0.00001
|
|
NM_001172509.2(SATB2):c.391G>C (p.Val131Leu)
|
rs1689785051
|
0.00001
|
|
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val)
|
rs746240750
|
0.00001
|
|
NM_001172509.2(SATB2):c.441T>C (p.Tyr147=)
|
rs367590994
|
0.00001
|
|
NM_001172509.2(SATB2):c.454T>C (p.Leu152=)
|
rs759337821
|
0.00001
|
|
NM_001172509.2(SATB2):c.474-16T>C
|
rs754983790
|
0.00001
|
|
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg)
|
rs1360355424
|
0.00001
|
|
NM_001172509.2(SATB2):c.501G>A (p.Ala167=)
|
rs761351033
|
0.00001
|
|
NM_001172509.2(SATB2):c.588T>C (p.Pro196=)
|
rs1689733456
|
0.00001
|
|
NM_001172509.2(SATB2):c.597+4A>G
|
rs777983427
|
0.00001
|
|
NM_001172509.2(SATB2):c.598-10T>C
|
rs995048972
|
0.00001
|
|
NM_001172509.2(SATB2):c.638A>G (p.Asn213Ser)
|
rs1371535617
|
0.00001
|
|
NM_001172509.2(SATB2):c.639T>C (p.Asn213=)
|
rs1409791746
|
0.00001
|
|
NM_001172509.2(SATB2):c.650C>T (p.Thr217Ile)
|
rs777062011
|
0.00001
|
|
NM_001172509.2(SATB2):c.71A>G (p.Lys24Arg)
|
rs1176416627
|
0.00001
|
|
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu)
|
rs766855879
|
0.00001
|
|
NM_001172509.2(SATB2):c.739G>A (p.Val247Ile)
|
rs767767817
|
0.00001
|
|
NM_001172509.2(SATB2):c.743T>G (p.Leu248Arg)
|
rs200620268
|
0.00001
|
|
NM_001172509.2(SATB2):c.76C>G (p.Pro26Ala)
|
rs1473042227
|
0.00001
|
|
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys)
|
rs1000649173
|
0.00001
|
|
NM_001172509.2(SATB2):c.772A>G (p.Met258Val)
|
rs200074373
|
0.00001
|
|
NM_001172509.2(SATB2):c.799A>G (p.Thr267Ala)
|
rs1410113037
|
0.00001
|
|
NM_001172509.2(SATB2):c.804C>T (p.Asn268=)
|
rs760068691
|
0.00001
|
|
NM_001172509.2(SATB2):c.894T>A (p.Leu298=)
|
rs199530574
|
0.00001
|
|
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr)
|
rs1461281024
|
0.00001
|
|
NM_001211.6(BUB1B):c.1008G>A (p.Val336=)
|
rs765922572
|
0.00001
|
|
NM_001211.6(BUB1B):c.1038G>A (p.Glu346=)
|
rs1566820458
|
0.00001
|
|
NM_001211.6(BUB1B):c.1043C>T (p.Ala348Val)
|
rs545784401
|
0.00001
|
|
NM_001211.6(BUB1B):c.1058+7G>T
|
rs904070234
|
0.00001
|
|
NM_001211.6(BUB1B):c.1059-10G>A
|
rs200485522
|
0.00001
|
|
NM_001211.6(BUB1B):c.107G>A (p.Arg36Gln)
|
rs534297115
|
0.00001
|
|
NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg)
|
rs1306309896
|
0.00001
|
|
NM_001211.6(BUB1B):c.1113T>C (p.Pro371=)
|
rs780663453
|
0.00001
|
|
NM_001211.6(BUB1B):c.1163C>T (p.Ala388Val)
|
rs771602632
|
0.00001
|
|
NM_001211.6(BUB1B):c.1246C>T (p.Arg416Trp)
|
rs755579898
|
0.00001
|
|
NM_001211.6(BUB1B):c.1288+13C>T
|
rs778499288
|
0.00001
|
|
NM_001211.6(BUB1B):c.1289-9T>C
|
rs763327688
|
0.00001
|
|
NM_001211.6(BUB1B):c.1291G>A (p.Glu431Lys)
|
rs781689041
|
0.00001
|
|
NM_001211.6(BUB1B):c.1299G>C (p.Leu433Phe)
|
rs753178226
|
0.00001
|
|
NM_001211.6(BUB1B):c.132A>G (p.Ala44=)
|
rs371958222
|
0.00001
|
|
NM_001211.6(BUB1B):c.137C>G (p.Ala46Gly)
|
rs889926604
|
0.00001
|
|
NM_001211.6(BUB1B):c.1419T>C (p.Pro473=)
|
rs1004969635
|
0.00001
|
|
NM_001211.6(BUB1B):c.1442A>C (p.Gln481Pro)
|
rs1060499944
|
0.00001
|
|
NM_001211.6(BUB1B):c.1451C>G (p.Ser484Cys)
|
rs777814938
|
0.00001
|
|
NM_001211.6(BUB1B):c.1464A>T (p.Lys488Asn)
|
rs368023159
|
0.00001
|
|
NM_001211.6(BUB1B):c.1513G>A (p.Ala505Thr)
|
rs1158168896
|
0.00001
|
|
NM_001211.6(BUB1B):c.1517+7C>G
|
rs752429596
|
0.00001
|
|
NM_001211.6(BUB1B):c.1520A>G (p.Glu507Gly)
|
rs750377734
|
0.00001
|
|
NM_001211.6(BUB1B):c.1532C>T (p.Ala511Val)
|
rs758067530
|
0.00001
|
|
NM_001211.6(BUB1B):c.156C>T (p.Asn52=)
|
rs1214786359
|
0.00001
|
|
NM_001211.6(BUB1B):c.1587C>T (p.Ser529=)
|
rs374320185
|
0.00001
|
|
NM_001211.6(BUB1B):c.15G>A (p.Lys5=)
|
rs374433718
|
0.00001
|
|
NM_001211.6(BUB1B):c.1628+5G>A
|
rs368202270
|
0.00001
|
|
NM_001211.6(BUB1B):c.1628+8del
|
rs1159029463
|
0.00001
|
|
NM_001211.6(BUB1B):c.1642C>T (p.Pro548Ser)
|
rs759527622
|
0.00001
|
|
NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter)
|
rs767213728
|
0.00001
|
|
NM_001211.6(BUB1B):c.1671C>G (p.Pro557=)
|
rs1236664633
|
0.00001
|
|
NM_001211.6(BUB1B):c.1717G>C (p.Val573Leu)
|
rs1390700281
|
0.00001
|
|
NM_001211.6(BUB1B):c.1725A>C (p.Pro575=)
|
rs1042674657
|
0.00001
|
|
NM_001211.6(BUB1B):c.178C>T (p.Arg60Trp)
|
rs748915007
|
0.00001
|
|
NM_001211.6(BUB1B):c.180-7A>G
|
rs750125592
|
0.00001
|
|
NM_001211.6(BUB1B):c.1825T>G (p.Cys609Gly)
|
rs1217885669
|
0.00001
|
|
NM_001211.6(BUB1B):c.1919C>T (p.Pro640Leu)
|
rs370388424
|
0.00001
|
|
NM_001211.6(BUB1B):c.1922A>T (p.Glu641Val)
|
rs527987333
|
0.00001
|
|
NM_001211.6(BUB1B):c.1936G>A (p.Val646Ile)
|
rs1349171668
|
0.00001
|
|
NM_001211.6(BUB1B):c.1977C>A (p.Ile659=)
|
rs992499879
|
0.00001
|
|
NM_001211.6(BUB1B):c.1979A>G (p.Tyr660Cys)
|
rs756309201
|
0.00001
|
|
NM_001211.6(BUB1B):c.1993A>C (p.Ser665Arg)
|
rs776731111
|
0.00001
|
|
NM_001211.6(BUB1B):c.200G>A (p.Arg67Gln)
|
rs781034323
|
0.00001
|
|
NM_001211.6(BUB1B):c.2010-19T>A
|
rs769699093
|
0.00001
|
|
NM_001211.6(BUB1B):c.2097A>C (p.Lys699Asn)
|
rs752678855
|
0.00001
|
|
NM_001211.6(BUB1B):c.212G>A (p.Gly71Glu)
|
rs777922307
|
0.00001
|
|
NM_001211.6(BUB1B):c.2132A>G (p.Asn711Ser)
|
rs1416579359
|
0.00001
|
|
NM_001211.6(BUB1B):c.2143+5G>A
|
rs543227658
|
0.00001
|
|
NM_001211.6(BUB1B):c.2144-14C>T
|
rs753821747
|
0.00001
|
|
NM_001211.6(BUB1B):c.2144-7C>G
|
rs1409374402
|
0.00001
|
|
NM_001211.6(BUB1B):c.2163A>G (p.Pro721=)
|
rs746054575
|
0.00001
|
|
NM_001211.6(BUB1B):c.2233A>G (p.Ile745Val)
|
rs763676435
|
0.00001
|
|
NM_001211.6(BUB1B):c.2271G>T (p.Lys757Asn)
|
rs1007572176
|
0.00001
|
|
NM_001211.6(BUB1B):c.2285-12C>T
|
rs761247619
|
0.00001
|
|
NM_001211.6(BUB1B):c.229G>A (p.Val77Ile)
|
rs774353130
|
0.00001
|
|
NM_001211.6(BUB1B):c.2308C>T (p.Arg770Ter)
|
rs750364303
|
0.00001
|
|
NM_001211.6(BUB1B):c.2309G>A (p.Arg770Gln)
|
rs1422532977
|
0.00001
|
|
NM_001211.6(BUB1B):c.2323T>G (p.Cys775Gly)
|
rs1025942169
|
0.00001
|
|
NM_001211.6(BUB1B):c.2341T>C (p.Phe781Leu)
|
rs368996088
|
0.00001
|
|
NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys)
|
rs760085736
|
0.00001
|
|
NM_001211.6(BUB1B):c.2386-4A>G
|
rs752871512
|
0.00001
|
|
NM_001211.6(BUB1B):c.2386-6T>C
|
rs767742757
|
0.00001
|
|
NM_001211.6(BUB1B):c.2386-9G>A
|
rs1189315798
|
0.00001
|
|
NM_001211.6(BUB1B):c.2397A>G (p.Gln799=)
|
rs754363122
|
0.00001
|
|
NM_001211.6(BUB1B):c.2398C>T (p.Pro800Ser)
|
rs139226455
|
0.00001
|
|
NM_001211.6(BUB1B):c.240-11C>T
|
rs779021486
|
0.00001
|
|
NM_001211.6(BUB1B):c.240-9C>A
|
rs372081557
|
0.00001
|
|
NM_001211.6(BUB1B):c.2404C>T (p.Pro802Ser)
|
rs1341275919
|
0.00001
|
|
NM_001211.6(BUB1B):c.2406A>G (p.Pro802=)
|
rs757885158
|
0.00001
|
|
NM_001211.6(BUB1B):c.240G>A (p.Arg80=)
|
rs772218663
|
0.00001
|
|
NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys)
|
rs1212671249
|
0.00001
|
|
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)
|
rs28989182
|
0.00001
|
|
NM_001211.6(BUB1B):c.2454T>C (p.Asp818=)
|
rs749203600
|
0.00001
|
|
NM_001211.6(BUB1B):c.2506C>T (p.His836Tyr)
|
rs546607638
|
0.00001
|
|
NM_001211.6(BUB1B):c.2508C>G (p.His836Gln)
|
rs181352808
|
0.00001
|
|
NM_001211.6(BUB1B):c.2535+15A>G
|
rs1446976292
|
0.00001
|
|
NM_001211.6(BUB1B):c.2557T>C (p.Tyr853His)
|
rs1264165576
|
0.00001
|
|
NM_001211.6(BUB1B):c.2560A>G (p.Ile854Val)
|
rs375105548
|
0.00001
|
|
NM_001211.6(BUB1B):c.2572A>G (p.Ile858Val)
|
rs867416581
|
0.00001
|
|
NM_001211.6(BUB1B):c.2608G>A (p.Val870Met)
|
rs1360702866
|
0.00001
|
|
NM_001211.6(BUB1B):c.2634A>C (p.Ile878=)
|
rs1233769017
|
0.00001
|
|
NM_001211.6(BUB1B):c.2667T>C (p.Ile889=)
|
rs901161308
|
0.00001
|
|
NM_001211.6(BUB1B):c.2693A>G (p.Tyr898Cys)
|
rs757927200
|
0.00001
|
|
NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val)
|
rs145639700
|
0.00001
|
|
NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr)
|
rs950826338
|
0.00001
|
|
NM_001211.6(BUB1B):c.2784C>T (p.Ser928=)
|
rs139066741
|
0.00001
|
|
NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln)
|
rs751509832
|
0.00001
|
|
NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg)
|
rs781299320
|
0.00001
|
|
NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg)
|
rs772525026
|
0.00001
|
|
NM_001211.6(BUB1B):c.2889A>G (p.Leu963=)
|
rs768869879
|
0.00001
|
|
NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu)
|
rs1191638586
|
0.00001
|
|
NM_001211.6(BUB1B):c.2957+16T>C
|
rs767194740
|
0.00001
|
|
NM_001211.6(BUB1B):c.2957+17G>A
|
rs752575105
|
0.00001
|
|
NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys)
|
rs1060499945
|
0.00001
|
|
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala)
|
rs750610809
|
0.00001
|
|
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)
|
rs28989185
|
0.00001
|
|
NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr)
|
rs748723428
|
0.00001
|
|
NM_001211.6(BUB1B):c.3076A>G (p.Thr1026Ala)
|
rs771709698
|
0.00001
|
|
NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=)
|
rs576684184
|
0.00001
|
|
NM_001211.6(BUB1B):c.3146T>C (p.Phe1049Ser)
|
rs751744682
|
0.00001
|
|
NM_001211.6(BUB1B):c.322G>A (p.Ala108Thr)
|
rs373830262
|
0.00001
|
|
NM_001211.6(BUB1B):c.330A>G (p.Gln110=)
|
rs758347429
|
0.00001
|
|
NM_001211.6(BUB1B):c.343T>C (p.Tyr115His)
|
rs748512524
|
0.00001
|
|
NM_001211.6(BUB1B):c.359G>A (p.Arg120Gln)
|
rs1349349252
|
0.00001
|
|
NM_001211.6(BUB1B):c.36-8C>T
|
rs780399190
|
0.00001
|
|
NM_001211.6(BUB1B):c.368A>G (p.Asn123Ser)
|
rs759232092
|
0.00001
|
|
NM_001211.6(BUB1B):c.430A>G (p.Asn144Asp)
|
rs2037225429
|
0.00001
|
|
NM_001211.6(BUB1B):c.567A>G (p.Leu189=)
|
rs779639976
|
0.00001
|
|
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)
|
rs28989186
|
0.00001
|
|
NM_001211.6(BUB1B):c.581+1G>T
|
rs2037228249
|
0.00001
|
|
NM_001211.6(BUB1B):c.582-14T>A
|
rs756555949
|
0.00001
|
|
NM_001211.6(BUB1B):c.585A>G (p.Gln195=)
|
rs1595518738
|
0.00001
|
|
NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter)
|
rs1403423766
|
0.00001
|
|
NM_001211.6(BUB1B):c.596G>A (p.Arg199Gln)
|
rs779260067
|
0.00001
|
|
NM_001211.6(BUB1B):c.604C>T (p.Arg202Trp)
|
rs746647687
|
0.00001
|
|
NM_001211.6(BUB1B):c.605G>A (p.Arg202Gln)
|
rs768417752
|
0.00001
|
|
NM_001211.6(BUB1B):c.60T>C (p.Asp20=)
|
rs770968419
|
0.00001
|
|
NM_001211.6(BUB1B):c.636A>G (p.Glu212=)
|
rs769213287
|
0.00001
|
|
NM_001211.6(BUB1B):c.669A>G (p.Gln223=)
|
rs534752806
|
0.00001
|
|
NM_001211.6(BUB1B):c.671G>A (p.Arg224Gln)
|
rs760391628
|
0.00001
|
|
NM_001211.6(BUB1B):c.676A>C (p.Thr226Pro)
|
rs587778146
|
0.00001
|
|
NM_001211.6(BUB1B):c.732T>A (p.Arg244=)
|
rs780852497
|
0.00001
|
|
NM_001211.6(BUB1B):c.751+12A>C
|
rs771058347
|
0.00001
|
|
NM_001211.6(BUB1B):c.767G>T (p.Arg256Ile)
|
rs531786139
|
0.00001
|
|
NM_001211.6(BUB1B):c.806A>G (p.Asn269Ser)
|
rs1429987495
|
0.00001
|
|
NM_001211.6(BUB1B):c.827A>G (p.Asp276Gly)
|
rs768901850
|
0.00001
|
|
NM_001211.6(BUB1B):c.833A>G (p.Asn278Ser)
|
rs776666761
|
0.00001
|
|
NM_001211.6(BUB1B):c.843G>C (p.Glu281Asp)
|
rs1411409004
|
0.00001
|
|
NM_001211.6(BUB1B):c.895C>G (p.Pro299Ala)
|
rs1263513288
|
0.00001
|
|
NM_001211.6(BUB1B):c.944C>T (p.Thr315Ile)
|
rs1369363382
|
0.00001
|
|
NM_001211.6(BUB1B):c.967-4C>G
|
rs1199649373
|
0.00001
|
|
NM_001211.6(BUB1B):c.974G>A (p.Gly325Asp)
|
rs749377720
|
0.00001
|
|
NM_001211.6(BUB1B):c.977A>G (p.Asn326Ser)
|
rs774654439
|
0.00001
|
|
NM_001378120.1(MBD5):c.1012C>T (p.Pro338Ser)
|
rs755505551
|
0.00001
|
|
NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile)
|
rs1201462027
|
0.00001
|
|
NM_001378120.1(MBD5):c.109G>A (p.Val37Ile)
|
rs747911147
|
0.00001
|
|
NM_001378120.1(MBD5):c.1104A>C (p.Pro368=)
|
rs756273559
|
0.00001
|
|
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412
|
0.00001
|
|
NM_001378120.1(MBD5):c.1128T>C (p.Ile376=)
|
rs1680695737
|
0.00001
|
|
NM_001378120.1(MBD5):c.113+14A>G
|
rs759575165
|
0.00001
|
|
NM_001378120.1(MBD5):c.114-19T>G
|
rs745877259
|
0.00001
|
|
NM_001378120.1(MBD5):c.1147T>C (p.Ser383Pro)
|
rs1553518530
|
0.00001
|
|
NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe)
|
rs1230879827
|
0.00001
|
|
NM_001378120.1(MBD5):c.1194T>G (p.Pro398=)
|
rs1559086405
|
0.00001
|
|
NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile)
|
rs535000990
|
0.00001
|
|
NM_001378120.1(MBD5):c.1245T>C (p.Gly415=)
|
rs1483172185
|
0.00001
|
|
NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu)
|
rs142661175
|
0.00001
|
|
NM_001378120.1(MBD5):c.1266T>C (p.His422=)
|
rs371026811
|
0.00001
|
|
NM_001378120.1(MBD5):c.1269A>T (p.Val423=)
|
rs746576866
|
0.00001
|
|
NM_001378120.1(MBD5):c.1326C>T (p.Pro442=)
|
rs190279556
|
0.00001
|
|
NM_001378120.1(MBD5):c.1372C>A (p.Gln458Lys)
|
rs990365646
|
0.00001
|
|
NM_001378120.1(MBD5):c.1406A>G (p.His469Arg)
|
rs766571687
|
0.00001
|
|
NM_001378120.1(MBD5):c.1420A>G (p.Met474Val)
|
rs577567411
|
0.00001
|
|
NM_001378120.1(MBD5):c.1468C>G (p.Pro490Ala)
|
rs1165270808
|
0.00001
|
|
NM_001378120.1(MBD5):c.1509A>G (p.Ser503=)
|
rs1465502500
|
0.00001
|
|
NM_001378120.1(MBD5):c.1524T>A (p.Pro508=)
|
rs773043343
|
0.00001
|
|
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn)
|
rs1465733702
|
0.00001
|
|
NM_001378120.1(MBD5):c.1602T>C (p.Asn534=)
|
rs768359954
|
0.00001
|
|
NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg)
|
rs116235310
|
0.00001
|
|
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr)
|
rs1422887607
|
0.00001
|
|
NM_001378120.1(MBD5):c.1709A>G (p.Asn570Ser)
|
rs1277304345
|
0.00001
|
|
NM_001378120.1(MBD5):c.171T>C (p.Asp57=)
|
rs1707126434
|
0.00001
|
|
NM_001378120.1(MBD5):c.1793A>G (p.Asn598Ser)
|
rs774519380
|
0.00001
|
|
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser)
|
rs142495834
|
0.00001
|
|
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg)
|
rs1370214658
|
0.00001
|
|
NM_001378120.1(MBD5):c.1884C>G (p.Ala628=)
|
rs906942779
|
0.00001
|
|
NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp)
|
rs750882049
|
0.00001
|
|
NM_001378120.1(MBD5):c.1935A>C (p.Arg645Ser)
|
rs775494046
|
0.00001
|
|
NM_001378120.1(MBD5):c.1955A>G (p.Gln652Arg)
|
rs398124342
|
0.00001
|
|
NM_001378120.1(MBD5):c.195A>G (p.Glu65=)
|
rs1480609393
|
0.00001
|
|
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr)
|
rs576930680
|
0.00001
|
|
NM_001378120.1(MBD5):c.1969C>A (p.Arg657=)
|
rs112334672
|
0.00001
|
|
NM_001378120.1(MBD5):c.1969C>T (p.Arg657Trp)
|
rs112334672
|
0.00001
|
|
NM_001378120.1(MBD5):c.1990A>G (p.Thr664Ala)
|
rs142431261
|
0.00001
|
|
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)
|
rs766104877
|
0.00001
|
|
NM_001378120.1(MBD5):c.2004T>C (p.Ser668=)
|
rs1451790598
|
0.00001
|
|
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly)
|
rs1376331579
|
0.00001
|
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
0.00001
|
|
NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser)
|
rs983507514
|
0.00001
|
|
NM_001378120.1(MBD5):c.2081G>T (p.Gly694Val)
|
rs1417817158
|
0.00001
|
|
NM_001378120.1(MBD5):c.2097T>C (p.Ser699=)
|
rs1171949031
|
0.00001
|
|
NM_001378120.1(MBD5):c.211C>T (p.Pro71Ser)
|
rs770840755
|
0.00001
|
|
NM_001378120.1(MBD5):c.2140C>G (p.His714Asp)
|
rs886054909
|
0.00001
|
|
NM_001378120.1(MBD5):c.216+15A>G
|
rs759004187
|
0.00001
|
|
NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser)
|
rs747127657
|
0.00001
|
|
NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe)
|
rs1438163020
|
0.00001
|
|
NM_001378120.1(MBD5):c.2213A>G (p.His738Arg)
|
rs528789050
|
0.00001
|
|
NM_001378120.1(MBD5):c.2227A>C (p.Ser743Arg)
|
rs1442226073
|
0.00001
|
|
NM_001378120.1(MBD5):c.2240G>C (p.Ser747Thr)
|
rs1031639264
|
0.00001
|
|
NM_001378120.1(MBD5):c.2272G>A (p.Ala758Thr)
|
rs921434746
|
0.00001
|
|
NM_001378120.1(MBD5):c.2277G>A (p.Val759=)
|
rs750839601
|
0.00001
|
|
NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser)
|
rs1294270968
|
0.00001
|
|
NM_001378120.1(MBD5):c.2295C>T (p.Asn765=)
|
rs752044751
|
0.00001
|
|
NM_001378120.1(MBD5):c.2304T>C (p.Phe768=)
|
rs115385046
|
0.00001
|
|
NM_001378120.1(MBD5):c.2308C>T (p.His770Tyr)
|
rs778118780
|
0.00001
|
|
NM_001378120.1(MBD5):c.2311A>G (p.Ser771Gly)
|
rs777686665
|
0.00001
|
|
NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser)
|
rs768601611
|
0.00001
|
|
NM_001378120.1(MBD5):c.2331C>A (p.Asn777Lys)
|
rs865860163
|
0.00001
|
|
NM_001378120.1(MBD5):c.2381G>A (p.Gly794Glu)
|
rs369612300
|
0.00001
|
|
NM_001378120.1(MBD5):c.2384T>A (p.Met795Lys)
|
rs1446479503
|
0.00001
|
|
NM_001378120.1(MBD5):c.2402T>C (p.Met801Thr)
|
rs756231796
|
0.00001
|
|
NM_001378120.1(MBD5):c.2452A>G (p.Thr818Ala)
|
rs139911474
|
0.00001
|
|
NM_001378120.1(MBD5):c.2471T>C (p.Ile824Thr)
|
rs1286239142
|
0.00001
|
|
NM_001378120.1(MBD5):c.24C>T (p.Asp8=)
|
rs751181406
|
0.00001
|
|
NM_001378120.1(MBD5):c.2514A>C (p.Glu838Asp)
|
rs1216163190
|
0.00001
|
|
NM_001378120.1(MBD5):c.2519-7A>G
|
rs200412749
|
0.00001
|
|
NM_001378120.1(MBD5):c.2520C>T (p.Gly840=)
|
rs201649831
|
0.00001
|
|
NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp)
|
rs756065878
|
0.00001
|
|
NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro)
|
rs144805912
|
0.00001
|
|
NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met)
|
rs756787235
|
0.00001
|
|
NM_001378120.1(MBD5):c.2553G>A (p.Ala851=)
|
rs559879867
|
0.00001
|
|
NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile)
|
rs780490918
|
0.00001
|
|
NM_001378120.1(MBD5):c.2604C>T (p.Gly868=)
|
rs762047043
|
0.00001
|
|
NM_001378120.1(MBD5):c.2647C>T (p.Leu883=)
|
rs1378904136
|
0.00001
|
|
NM_001378120.1(MBD5):c.264A>G (p.Glu88=)
|
rs1385855105
|
0.00001
|
|
NM_001378120.1(MBD5):c.2688C>T (p.His896=)
|
rs1681222021
|
0.00001
|
|
NM_001378120.1(MBD5):c.2689G>T (p.Ala897Ser)
|
rs778516851
|
0.00001
|
|
NM_001378120.1(MBD5):c.2740T>G (p.Leu914Val)
|
rs1346667597
|
0.00001
|
|
NM_001378120.1(MBD5):c.2750G>A (p.Ser917Asn)
|
rs748689212
|
0.00001
|
|
NM_001378120.1(MBD5):c.2795A>G (p.His932Arg)
|
rs140228960
|
0.00001
|
|
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg)
|
rs377062993
|
0.00001
|
|
NM_001378120.1(MBD5):c.3545-10C>G
|
rs1574479997
|
0.00001
|
|
NM_001378120.1(MBD5):c.3597A>G (p.Leu1199=)
|
rs968871300
|
0.00001
|
|
NM_001378120.1(MBD5):c.3651A>G (p.Gln1217=)
|
rs777597807
|
0.00001
|
|
NM_001378120.1(MBD5):c.3673C>A (p.Leu1225Ile)
|
rs776251206
|
0.00001
|
|
NM_001378120.1(MBD5):c.3695C>A (p.Ser1232Tyr)
|
rs1681324168
|
0.00001
|
|
NM_001378120.1(MBD5):c.3753+18G>A
|
rs768223778
|
0.00001
|
|
NM_001378120.1(MBD5):c.3754-6T>C
|
rs149825755
|
0.00001
|
|
NM_001378120.1(MBD5):c.3758G>A (p.Arg1253Lys)
|
rs758196921
|
0.00001
|
|
NM_001378120.1(MBD5):c.3762G>A (p.Met1254Ile)
|
rs373991655
|
0.00001
|
|
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile)
|
rs1553520435
|
0.00001
|
|
NM_001378120.1(MBD5):c.384C>T (p.Pro128=)
|
rs753595652
|
0.00001
|
|
NM_001378120.1(MBD5):c.3874T>C (p.Leu1292=)
|
rs959320564
|
0.00001
|
|
NM_001378120.1(MBD5):c.3882G>A (p.Pro1294=)
|
rs752275705
|
0.00001
|
|
NM_001378120.1(MBD5):c.3891C>T (p.Asp1297=)
|
rs1359066274
|
0.00001
|
|
NM_001378120.1(MBD5):c.3897T>C (p.Ser1299=)
|
rs1377963134
|
0.00001
|
|
NM_001378120.1(MBD5):c.3918T>C (p.Asp1306=)
|
rs1004247100
|
0.00001
|
|
NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile)
|
rs973326943
|
0.00001
|
|
NM_001378120.1(MBD5):c.3927T>A (p.Val1309=)
|
rs1574484414
|
0.00001
|
|
NM_001378120.1(MBD5):c.3930G>T (p.Val1310=)
|
rs776127313
|
0.00001
|
|
NM_001378120.1(MBD5):c.3965A>G (p.Tyr1322Cys)
|
rs1234231456
|
0.00001
|
|
NM_001378120.1(MBD5):c.396A>G (p.Thr132=)
|
rs778891789
|
0.00001
|
|
NM_001378120.1(MBD5):c.397+14T>G
|
rs376866744
|
0.00001
|
|
NM_001378120.1(MBD5):c.3979G>A (p.Asp1327Asn)
|
rs752647756
|
0.00001
|
|
NM_001378120.1(MBD5):c.398-12C>T
|
rs556768118
|
0.00001
|
|
NM_001378120.1(MBD5):c.4029T>C (p.Ser1343=)
|
rs1316838361
|
0.00001
|
|
NM_001378120.1(MBD5):c.4054G>T (p.Ala1352Ser)
|
rs373177231
|
0.00001
|
|
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val)
|
rs1057518375
|
0.00001
|
|
NM_001378120.1(MBD5):c.4106T>C (p.Leu1369Pro)
|
rs1406103855
|
0.00001
|
|
NM_001378120.1(MBD5):c.4112G>A (p.Ser1371Asn)
|
rs1037868450
|
0.00001
|
|
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn)
|
rs763106823
|
0.00001
|
|
NM_001378120.1(MBD5):c.4124C>T (p.Ala1375Val)
|
rs767306594
|
0.00001
|
|
NM_001378120.1(MBD5):c.4131T>C (p.Ile1377=)
|
rs1489981026
|
0.00001
|
|
NM_001378120.1(MBD5):c.4133A>G (p.His1378Arg)
|
rs760629404
|
0.00001
|
|
NM_001378120.1(MBD5):c.4134T>C (p.His1378=)
|
rs1051689897
|
0.00001
|
|
NM_001378120.1(MBD5):c.4168A>G (p.Arg1390Gly)
|
rs773278945
|
0.00001
|
|
NM_001378120.1(MBD5):c.4170G>T (p.Arg1390Ser)
|
rs1312513915
|
0.00001
|
|
NM_001378120.1(MBD5):c.4193G>A (p.Arg1398Gln)
|
rs727503999
|
0.00001
|
|
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu)
|
rs1057522316
|
0.00001
|
|
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=)
|
rs1014000010
|
0.00001
|
|
NM_001378120.1(MBD5):c.4231G>A (p.Glu1411Lys)
|
rs571209967
|
0.00001
|
|
NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn)
|
rs749348330
|
0.00001
|
|
NM_001378120.1(MBD5):c.428C>T (p.Ala143Val)
|
rs750151785
|
0.00001
|
|
NM_001378120.1(MBD5):c.4318C>A (p.Arg1440=)
|
rs978179634
|
0.00001
|
|
NM_001378120.1(MBD5):c.4335C>T (p.Tyr1445=)
|
rs368825815
|
0.00001
|
|
NM_001378120.1(MBD5):c.437G>T (p.Arg146Ile)
|
rs1411318062
|
0.00001
|
|
NM_001378120.1(MBD5):c.4396A>G (p.Asn1466Asp)
|
rs778221567
|
0.00001
|
|
NM_001378120.1(MBD5):c.4417C>G (p.Leu1473Val)
|
rs1400713495
|
0.00001
|
|
NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val)
|
rs746105686
|
0.00001
|
|
NM_001378120.1(MBD5):c.4447C>A (p.Pro1483Thr)
|
rs142913108
|
0.00001
|
|
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu)
|
rs773267074
|
0.00001
|
|
NM_001378120.1(MBD5):c.4467G>T (p.Gly1489=)
|
rs376625886
|
0.00001
|
|
NM_001378120.1(MBD5):c.4592G>T (p.Ser1531Ile)
|
rs750493021
|
0.00001
|
|
NM_001378120.1(MBD5):c.4594C>T (p.Arg1532Trp)
|
rs370659853
|
0.00001
|
|
NM_001378120.1(MBD5):c.4597G>A (p.Gly1533Arg)
|
rs747948310
|
0.00001
|
|
NM_001378120.1(MBD5):c.4601T>C (p.Phe1534Ser)
|
rs755983540
|
0.00001
|
|
NM_001378120.1(MBD5):c.4626G>A (p.Lys1542=)
|
rs1467670256
|
0.00001
|
|
NM_001378120.1(MBD5):c.4648C>A (p.Gln1550Lys)
|
rs764472472
|
0.00001
|
|
NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile)
|
rs749436847
|
0.00001
|
|
NM_001378120.1(MBD5):c.4713A>G (p.Gly1571=)
|
rs1470745744
|
0.00001
|
|
NM_001378120.1(MBD5):c.4730G>A (p.Ser1577Asn)
|
rs755214586
|
0.00001
|
|
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=)
|
rs777735514
|
0.00001
|
|
NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=)
|
rs147744781
|
0.00001
|
|
NM_001378120.1(MBD5):c.4820A>T (p.Glu1607Val)
|
rs1470442862
|
0.00001
|
|
NM_001378120.1(MBD5):c.4827A>C (p.Ile1609=)
|
rs768275565
|
0.00001
|
|
NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln)
|
rs763299719
|
0.00001
|
|
NM_001378120.1(MBD5):c.4915G>A (p.Glu1639Lys)
|
rs1395912880
|
0.00001
|
|
NM_001378120.1(MBD5):c.4921G>A (p.Asp1641Asn)
|
rs780805788
|
0.00001
|
|
NM_001378120.1(MBD5):c.4923C>T (p.Asp1641=)
|
rs747736779
|
0.00001
|
|
NM_001378120.1(MBD5):c.4924G>A (p.Val1642Ile)
|
rs770196931
|
0.00001
|
|
NM_001378120.1(MBD5):c.4929C>T (p.His1643=)
|
rs773406626
|
0.00001
|
|
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys)
|
rs577955398
|
0.00001
|
|
NM_001378120.1(MBD5):c.4963G>A (p.Val1655Met)
|
rs957554797
|
0.00001
|
|
NM_001378120.1(MBD5):c.4971C>T (p.Pro1657=)
|
rs761003936
|
0.00001
|
|
NM_001378120.1(MBD5):c.5014C>T (p.Arg1672Cys)
|
rs767034398
|
0.00001
|
|
NM_001378120.1(MBD5):c.5015G>A (p.Arg1672His)
|
rs150519311
|
0.00001
|
|
NM_001378120.1(MBD5):c.5021G>A (p.Arg1674Gln)
|
rs750291645
|
0.00001
|
|
NM_001378120.1(MBD5):c.502T>C (p.Phe168Leu)
|
rs1225184691
|
0.00001
|
|
NM_001378120.1(MBD5):c.5036+6C>T
|
rs372049573
|
0.00001
|
|
NM_001378120.1(MBD5):c.5113-10T>G
|
rs775307238
|
0.00001
|
|
NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys)
|
rs534850589
|
0.00001
|
|
NM_001378120.1(MBD5):c.5163G>A (p.Lys1721=)
|
rs1057522299
|
0.00001
|
|
NM_001378120.1(MBD5):c.5179A>G (p.Arg1727Gly)
|
rs1243468520
|
0.00001
|
|
NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr)
|
rs773716719
|
0.00001
|
|
NM_001378120.1(MBD5):c.549A>G (p.Val183=)
|
rs1327901967
|
0.00001
|
|
NM_001378120.1(MBD5):c.573A>G (p.Gln191=)
|
rs188689135
|
0.00001
|
|
NM_001378120.1(MBD5):c.57A>G (p.Ile19Met)
|
rs757256547
|
0.00001
|
|
NM_001378120.1(MBD5):c.580C>A (p.Leu194Ile)
|
rs767622325
|
0.00001
|
|
NM_001378120.1(MBD5):c.588T>C (p.Pro196=)
|
rs373675091
|
0.00001
|
|
NM_001378120.1(MBD5):c.607T>C (p.Leu203=)
|
rs766270027
|
0.00001
|
|
NM_001378120.1(MBD5):c.60A>G (p.Gln20=)
|
rs1057522537
|
0.00001
|
|
NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys)
|
rs777516937
|
0.00001
|
|
NM_001378120.1(MBD5):c.682G>A (p.Gly228Ser)
|
rs1321017970
|
0.00001
|
|
NM_001378120.1(MBD5):c.693A>T (p.Ile231=)
|
rs1016661590
|
0.00001
|
|
NM_001378120.1(MBD5):c.742G>C (p.Asp248His)
|
rs753529014
|
0.00001
|
|
NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser)
|
rs772659870
|
0.00001
|
|
NM_001378120.1(MBD5):c.798T>A (p.Ile266=)
|
rs1208664164
|
0.00001
|
|
NM_001378120.1(MBD5):c.801C>G (p.His267Gln)
|
rs747135508
|
0.00001
|
|
NM_001378120.1(MBD5):c.817C>T (p.Leu273Phe)
|
rs776894242
|
0.00001
|
|
NM_001378120.1(MBD5):c.83G>A (p.Arg28His)
|
rs201699340
|
0.00001
|
|
NM_001378120.1(MBD5):c.860C>T (p.Ser287Leu)
|
rs1411303556
|
0.00001
|
|
NM_001378120.1(MBD5):c.932A>C (p.Lys311Thr)
|
rs200561241
|
0.00001
|
|
NM_001378120.1(MBD5):c.962T>C (p.Met321Thr)
|
rs140978568
|
0.00001
|
|
NM_001378120.1(MBD5):c.964G>C (p.Glu322Gln)
|
rs760694122
|
0.00001
|
|
NM_001378120.1(MBD5):c.974G>A (p.Arg325Gln)
|
rs374866920
|
0.00001
|
|
NM_001379200.1(TBX1):c.1003G>T (p.Ala335Ser)
|
rs892172437
|
0.00001
|
|
NM_001379200.1(TBX1):c.1008C>G (p.Ser336=)
|
rs1489288021
|
0.00001
|
|
NM_001379200.1(TBX1):c.1010C>T (p.Pro337Leu)
|
rs1300317275
|
0.00001
|
|
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp)
|
rs1191464098
|
0.00001
|
|
NM_001379200.1(TBX1):c.1026C>A (p.Gly342=)
|
rs1360989561
|
0.00001
|
|
NM_001379200.1(TBX1):c.1037-10C>T
|
rs1187093140
|
0.00001
|
|
NM_001379200.1(TBX1):c.1037-18C>T
|
rs1464749962
|
0.00001
|
|
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr)
|
rs1407996016
|
0.00001
|
|
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu)
|
rs1157536437
|
0.00001
|
|
NM_001379200.1(TBX1):c.1188C>T (p.Gly396=)
|
rs1046003511
|
0.00001
|
|
NM_001379200.1(TBX1):c.1195G>A (p.Gly399Arg)
|
rs1196576937
|
0.00001
|
|
NM_001379200.1(TBX1):c.1196G>C (p.Gly399Ala)
|
rs1274082696
|
0.00001
|
|
NM_001379200.1(TBX1):c.1199G>C (p.Gly400Ala)
|
rs1238160485
|
0.00001
|
|
NM_001379200.1(TBX1):c.119C>T (p.Ala40Val)
|
rs745369694
|
0.00001
|
|
NM_001379200.1(TBX1):c.1221C>T (p.Pro407=)
|
rs1305509653
|
0.00001
|
|
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser)
|
rs757648761
|
0.00001
|
|
NM_001379200.1(TBX1):c.1245C>T (p.Gly415=)
|
rs780344405
|
0.00001
|
|
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=)
|
rs755047093
|
0.00001
|
|
NM_001379200.1(TBX1):c.1251G>A (p.Ser417=)
|
rs770781746
|
0.00001
|
|
NM_001379200.1(TBX1):c.1286C>T (p.Ala429Val)
|
rs754328637
|
0.00001
|
|
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys)
|
rs1163307521
|
0.00001
|
|
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn)
|
rs758517884
|
0.00001
|
|
NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys)
|
rs1386894564
|
0.00001
|
|
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=)
|
rs574947516
|
0.00001
|
|
NM_001379200.1(TBX1):c.1323G>A (p.Arg441=)
|
rs1228904807
|
0.00001
|
|
NM_001379200.1(TBX1):c.1329G>A (p.Ala443=)
|
rs772860144
|
0.00001
|
|
NM_001379200.1(TBX1):c.1371G>A (p.Pro457=)
|
rs768572721
|
0.00001
|
|
NM_001379200.1(TBX1):c.1377G>C (p.Ala459=)
|
rs771540171
|
0.00001
|
|
NM_001379200.1(TBX1):c.137C>T (p.Pro46Leu)
|
rs1169037254
|
0.00001
|
|
NM_001379200.1(TBX1):c.1392C>T (p.His464=)
|
rs777103863
|
0.00001
|
|
NM_001379200.1(TBX1):c.1425C>T (p.Ala475=)
|
rs754705790
|
0.00001
|
|
NM_001379200.1(TBX1):c.1437C>T (p.Ala479=)
|
rs1415301935
|
0.00001
|
|
NM_001379200.1(TBX1):c.1446C>G (p.Ala482=)
|
rs770702512
|
0.00001
|
|
NM_001379200.1(TBX1):c.1446C>T (p.Ala482=)
|
rs770702512
|
0.00001
|
|
NM_001379200.1(TBX1):c.1469C>T (p.Ser490Leu)
|
rs770129913
|
0.00001
|
|
NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val)
|
rs373987708
|
0.00001
|
|
NM_001379200.1(TBX1):c.1500C>G (p.Asp500Glu)
|
rs777213879
|
0.00001
|
|
NM_001379200.1(TBX1):c.158C>T (p.Pro53Leu)
|
rs1403071771
|
0.00001
|
|
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu)
|
rs1936641756
|
0.00001
|
|
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr)
|
rs1936643083
|
0.00001
|
|
NM_001379200.1(TBX1):c.279C>T (p.Ala93=)
|
rs1191392752
|
0.00001
|
|
NM_001379200.1(TBX1):c.303C>G (p.Ser101Arg)
|
rs774556411
|
0.00001
|
|
NM_001379200.1(TBX1):c.318C>G (p.Ala106=)
|
rs767905417
|
0.00001
|
|
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp)
|
rs761127806
|
0.00001
|
|
NM_001379200.1(TBX1):c.437+10C>T
|
rs765377233
|
0.00001
|
|
NM_001379200.1(TBX1):c.438-7C>A
|
rs199903273
|
0.00001
|
|
NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu)
|
rs778041960
|
0.00001
|
|
NM_001379200.1(TBX1):c.523G>A (p.Asp175Asn)
|
rs371125236
|
0.00001
|
|
NM_001379200.1(TBX1):c.525C>T (p.Asp175=)
|
rs538317719
|
0.00001
|
|
NM_001379200.1(TBX1):c.549C>T (p.Phe183=)
|
rs1468073803
|
0.00001
|
|
NM_001379200.1(TBX1):c.588T>C (p.Pro196=)
|
rs1936758322
|
0.00001
|
|
NM_001379200.1(TBX1):c.632A>G (p.Lys211Arg)
|
rs755518264
|
0.00001
|
|
NM_001379200.1(TBX1):c.636C>T (p.Gly212=)
|
rs779173153
|
0.00001
|
|
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr)
|
rs748232668
|
0.00001
|
|
NM_001379200.1(TBX1):c.658G>A (p.Val220Met)
|
rs749275495
|
0.00001
|
|
NM_001379200.1(TBX1):c.663C>T (p.Ser221=)
|
rs1438172581
|
0.00001
|
|
NM_001379200.1(TBX1):c.699C>T (p.Asp233=)
|
rs367657296
|
0.00001
|
|
NM_001379200.1(TBX1):c.69G>C (p.Thr23=)
|
rs1482857023
|
0.00001
|
|
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn)
|
rs765827737
|
0.00001
|
|
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)
|
rs373539086
|
0.00001
|
|
NM_001379200.1(TBX1):c.768C>T (p.Asp256=)
|
rs1266161483
|
0.00001
|
|
NM_001379200.1(TBX1):c.780T>C (p.Asp260=)
|
rs1936784892
|
0.00001
|
|
NM_001379200.1(TBX1):c.822C>T (p.Phe274=)
|
rs763559631
|
0.00001
|
|
NM_001379200.1(TBX1):c.831A>T (p.Thr277=)
|
rs1182771166
|
0.00001
|
|
NM_001379200.1(TBX1):c.868-11C>T
|
rs1936811503
|
0.00001
|
|
NM_001379200.1(TBX1):c.868-19C>T
|
rs1201011175
|
0.00001
|
|
NM_001379200.1(TBX1):c.935+13C>T
|
rs779209396
|
0.00001
|
|
NM_001379200.1(TBX1):c.936-11C>A
|
rs917326981
|
0.00001
|
|
NM_001379200.1(TBX1):c.956G>C (p.Gly319Ala)
|
rs747565599
|
0.00001
|
|
NM_001379200.1(TBX1):c.986G>C (p.Arg329Pro)
|
rs1271930172
|
0.00001
|
|
NM_002397.5(MEF2C):c.1005G>C (p.Gly335=)
|
rs1053127005
|
0.00001
|
|
NM_002397.5(MEF2C):c.1014C>T (p.Thr338=)
|
rs1404943567
|
0.00001
|
|
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr)
|
rs778783316
|
0.00001
|
|
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)
|
rs797045703
|
0.00001
|
|
NM_002397.5(MEF2C):c.1041A>C (p.Val347=)
|
rs1426509656
|
0.00001
|
|
NM_002397.5(MEF2C):c.1218G>A (p.Ser406=)
|
rs759655835
|
0.00001
|
|
NM_002397.5(MEF2C):c.1290G>C (p.Ser430=)
|
rs745534524
|
0.00001
|
|
NM_002397.5(MEF2C):c.1296C>T (p.Asp432=)
|
rs756839313
|
0.00001
|
|
NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr)
|
rs753156153
|
0.00001
|
|
NM_002397.5(MEF2C):c.1416A>G (p.Ala472=)
|
rs1353760829
|
0.00001
|
|
NM_002397.5(MEF2C):c.210G>A (p.Thr70=)
|
rs1250050314
|
0.00001
|
|
NM_002397.5(MEF2C):c.219C>T (p.Asn73=)
|
rs768621677
|
0.00001
|
|
NM_002397.5(MEF2C):c.237G>A (p.Arg79=)
|
rs1799619981
|
0.00001
|
|
NM_002397.5(MEF2C):c.258+14C>T
|
rs779827174
|
0.00001
|
|
NM_002397.5(MEF2C):c.261G>A (p.Thr87=)
|
rs777529202
|
0.00001
|
|
NM_002397.5(MEF2C):c.308C>T (p.Ala103Val)
|
rs755436703
|
0.00001
|
|
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile)
|
rs750647048
|
0.00001
|
|
NM_002397.5(MEF2C):c.423C>T (p.Phe141=)
|
rs774945849
|
0.00001
|
|
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser)
|
rs1366038563
|
0.00001
|
|
NM_002397.5(MEF2C):c.447G>C (p.Val149=)
|
rs1554112223
|
0.00001
|
|
NM_002397.5(MEF2C):c.450C>T (p.Ser150=)
|
rs1380809389
|
0.00001
|
|
NM_002397.5(MEF2C):c.465G>A (p.Leu155=)
|
rs1256206599
|
0.00001
|
|
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser)
|
rs1322552264
|
0.00001
|
|
NM_002397.5(MEF2C):c.531G>A (p.Leu177=)
|
rs371858773
|
0.00001
|
|
NM_002397.5(MEF2C):c.54+16T>A
|
rs953851573
|
0.00001
|
|
NM_002397.5(MEF2C):c.544A>G (p.Met182Val)
|
rs1250885583
|
0.00001
|
|
NM_002397.5(MEF2C):c.55-9T>G
|
rs1328901581
|
0.00001
|
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
|
NM_002397.5(MEF2C):c.589+19G>A
|
rs1460049267
|
0.00001
|
|
NM_002397.5(MEF2C):c.645G>T (p.Gly215=)
|
rs1406989584
|
0.00001
|
|
NM_002397.5(MEF2C):c.730A>G (p.Met244Val)
|
rs752349182
|
0.00001
|
|
NM_002397.5(MEF2C):c.798G>A (p.Thr266=)
|
rs761222463
|
0.00001
|
|
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu)
|
rs777826971
|
0.00001
|
|
NM_002397.5(MEF2C):c.861G>A (p.Ser287=)
|
rs185655344
|
0.00001
|
|
NM_002397.5(MEF2C):c.887T>C (p.Val296Ala)
|
rs765881880
|
0.00001
|
|
NM_002397.5(MEF2C):c.936A>G (p.Pro312=)
|
rs763339882
|
0.00001
|
|
NM_002397.5(MEF2C):c.963C>T (p.Thr321=)
|
rs1363064582
|
0.00001
|
|
NM_014679.5(CEP57):c.1009T>C (p.Ser337Pro)
|
rs1453457813
|
0.00001
|
|
NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)
|
rs1399711421
|
0.00001
|
|
NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg)
|
rs185181743
|
0.00001
|
|
NM_014679.5(CEP57):c.1046C>T (p.Thr349Ile)
|
rs768090594
|
0.00001
|
|
NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr)
|
rs1227528568
|
0.00001
|
|
NM_014679.5(CEP57):c.1063G>T (p.Gly355Cys)
|
rs202115720
|
0.00001
|
|
NM_014679.5(CEP57):c.1078T>C (p.Leu360=)
|
rs769977771
|
0.00001
|
|
NM_014679.5(CEP57):c.1084G>A (p.Glu362Lys)
|
rs749400630
|
0.00001
|
|
NM_014679.5(CEP57):c.111A>G (p.Val37=)
|
rs1400701790
|
0.00001
|
|
NM_014679.5(CEP57):c.1122G>T (p.Met374Ile)
|
rs764662402
|
0.00001
|
|
NM_014679.5(CEP57):c.1134C>T (p.His378=)
|
rs1326479813
|
0.00001
|
|
NM_014679.5(CEP57):c.1160A>C (p.Glu387Ala)
|
rs749225516
|
0.00001
|
|
NM_014679.5(CEP57):c.1164G>A (p.Ser388=)
|
rs1463857205
|
0.00001
|
|
NM_014679.5(CEP57):c.1172T>C (p.Val391Ala)
|
rs374317740
|
0.00001
|
|
NM_014679.5(CEP57):c.1174G>A (p.Glu392Lys)
|
rs747350287
|
0.00001
|
|
NM_014679.5(CEP57):c.1196G>A (p.Cys399Tyr)
|
rs1862891504
|
0.00001
|
|
NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr)
|
rs752448256
|
0.00001
|
|
NM_014679.5(CEP57):c.122C>T (p.Ser41Leu)
|
rs993520814
|
0.00001
|
|
NM_014679.5(CEP57):c.1233A>G (p.Lys411=)
|
rs753801234
|
0.00001
|
|
NM_014679.5(CEP57):c.123G>A (p.Ser41=)
|
rs200083050
|
0.00001
|
|
NM_014679.5(CEP57):c.1247C>G (p.Thr416Ser)
|
rs758520624
|
0.00001
|
|
NM_014679.5(CEP57):c.1272+12T>G
|
rs768991658
|
0.00001
|
|
NM_014679.5(CEP57):c.1272+4A>C
|
rs1465357317
|
0.00001
|
|
NM_014679.5(CEP57):c.1273C>T (p.Leu425=)
|
rs758465541
|
0.00001
|
|
NM_014679.5(CEP57):c.1374G>A (p.Gly458=)
|
rs1364380694
|
0.00001
|
|
NM_014679.5(CEP57):c.1377C>T (p.Thr459=)
|
rs144292940
|
0.00001
|
|
NM_014679.5(CEP57):c.145G>A (p.Asp49Asn)
|
rs368437597
|
0.00001
|
|
NM_014679.5(CEP57):c.1496A>G (p.Asp499Gly)
|
rs778341440
|
0.00001
|
|
NM_014679.5(CEP57):c.150A>C (p.Leu50=)
|
rs190360114
|
0.00001
|
|
NM_014679.5(CEP57):c.152G>A (p.Arg51Gln)
|
rs549840259
|
0.00001
|
|
NM_014679.5(CEP57):c.154C>T (p.Arg52Cys)
|
rs749519225
|
0.00001
|
|
NM_014679.5(CEP57):c.155G>A (p.Arg52His)
|
rs771323616
|
0.00001
|
|
NM_014679.5(CEP57):c.170C>G (p.Pro57Arg)
|
rs1861478889
|
0.00001
|
|
NM_014679.5(CEP57):c.174A>G (p.Thr58=)
|
rs772710410
|
0.00001
|
|
NM_014679.5(CEP57):c.242G>A (p.Arg81Gln)
|
rs1221295374
|
0.00001
|
|
NM_014679.5(CEP57):c.244C>T (p.Arg82Cys)
|
rs372530656
|
0.00001
|
|
NM_014679.5(CEP57):c.258G>C (p.Glu86Asp)
|
rs912374722
|
0.00001
|
|
NM_014679.5(CEP57):c.26C>T (p.Ala9Val)
|
rs1171650821
|
0.00001
|
|
NM_014679.5(CEP57):c.303A>G (p.Thr101=)
|
rs775279360
|
0.00001
|
|
NM_014679.5(CEP57):c.31G>C (p.Gly11Arg)
|
rs755854165
|
0.00001
|
|
NM_014679.5(CEP57):c.337C>G (p.Gln113Glu)
|
rs1361128223
|
0.00001
|
|
NM_014679.5(CEP57):c.358A>G (p.Asn120Asp)
|
rs201590491
|
0.00001
|
|
NM_014679.5(CEP57):c.366A>C (p.Glu122Asp)
|
rs375567801
|
0.00001
|
|
NM_014679.5(CEP57):c.36T>A (p.Ser12=)
|
rs749098441
|
0.00001
|
|
NM_014679.5(CEP57):c.373C>T (p.His125Tyr)
|
rs751973626
|
0.00001
|
|
NM_014679.5(CEP57):c.382+4T>C
|
rs572758334
|
0.00001
|
|
NM_014679.5(CEP57):c.383-11A>T
|
rs549865234
|
0.00001
|
|
NM_014679.5(CEP57):c.3G>A (p.Met1Ile)
|
rs1017500720
|
0.00001
|
|
NM_014679.5(CEP57):c.427T>C (p.Leu143=)
|
rs899359299
|
0.00001
|
|
NM_014679.5(CEP57):c.45+5G>A
|
rs1347618392
|
0.00001
|
|
NM_014679.5(CEP57):c.451C>T (p.Arg151Ter)
|
rs771182933
|
0.00001
|
|
NM_014679.5(CEP57):c.46-9A>T
|
rs780066541
|
0.00001
|
|
NM_014679.5(CEP57):c.471C>T (p.Ala157=)
|
rs753111395
|
0.00001
|
|
NM_014679.5(CEP57):c.472G>A (p.Glu158Lys)
|
rs761049103
|
0.00001
|
|
NM_014679.5(CEP57):c.478G>A (p.Glu160Lys)
|
rs754392500
|
0.00001
|
|
NM_014679.5(CEP57):c.510C>G (p.Ser170=)
|
rs201373134
|
0.00001
|
|
NM_014679.5(CEP57):c.51C>T (p.Ser17=)
|
rs781312646
|
0.00001
|
|
NM_014679.5(CEP57):c.550A>G (p.Ser184Gly)
|
rs1336581104
|
0.00001
|
|
NM_014679.5(CEP57):c.561A>G (p.Glu187=)
|
rs1471190034
|
0.00001
|
|
NM_014679.5(CEP57):c.565T>C (p.Leu189=)
|
rs759061888
|
0.00001
|
|
NM_014679.5(CEP57):c.566T>C (p.Leu189Ser)
|
rs928707774
|
0.00001
|
|
NM_014679.5(CEP57):c.621+7G>T
|
rs1029266260
|
0.00001
|
|
NM_014679.5(CEP57):c.669A>G (p.Glu223=)
|
rs751672542
|
0.00001
|
|
NM_014679.5(CEP57):c.732C>A (p.Ile244=)
|
rs537497503
|
0.00001
|
|
NM_014679.5(CEP57):c.824A>G (p.Tyr275Cys)
|
rs759400733
|
0.00001
|
|
NM_014679.5(CEP57):c.885+19G>A
|
rs750852994
|
0.00001
|
|
NM_014679.5(CEP57):c.896C>G (p.Pro299Arg)
|
rs776778777
|
0.00001
|
|
NM_014679.5(CEP57):c.89G>A (p.Arg30Gln)
|
rs577173144
|
0.00001
|
|
NM_014679.5(CEP57):c.917A>G (p.Asn306Ser)
|
rs557536640
|
0.00001
|
|
NM_014679.5(CEP57):c.918T>A (p.Asn306Lys)
|
rs984460249
|
0.00001
|
|
NM_014679.5(CEP57):c.925C>T (p.Leu309Phe)
|
rs548800686
|
0.00001
|
|
NM_014679.5(CEP57):c.968A>G (p.Asn323Ser)
|
rs1266159669
|
0.00001
|
|
NM_014679.5(CEP57):c.98C>T (p.Ser33Leu)
|
rs562909477
|
0.00001
|
|
NM_022455.5(NSD1):c.1035G>A (p.Pro345=)
|
rs776701573
|
0.00001
|
|
NM_022455.5(NSD1):c.1173A>G (p.Gln391=)
|
rs146581653
|
0.00001
|
|
NM_022455.5(NSD1):c.1230G>A (p.Arg410=)
|
rs1312457601
|
0.00001
|
|
NM_022455.5(NSD1):c.1252T>C (p.Leu418=)
|
rs201329783
|
0.00001
|
|
NM_022455.5(NSD1):c.1290G>A (p.Gln430=)
|
rs535674820
|
0.00001
|
|
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp)
|
rs1215568879
|
0.00001
|
|
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr)
|
rs756449994
|
0.00001
|
|
NM_022455.5(NSD1):c.1716C>T (p.Ser572=)
|
rs375093905
|
0.00001
|
|
NM_022455.5(NSD1):c.1842G>A (p.Val614=)
|
rs761181063
|
0.00001
|
|
NM_022455.5(NSD1):c.1882G>A (p.Asp628Asn)
|
rs1763231304
|
0.00001
|
|
NM_022455.5(NSD1):c.19C>A (p.Leu7Ile)
|
rs368345846
|
0.00001
|
|
NM_022455.5(NSD1):c.2007C>T (p.Phe669=)
|
rs530934556
|
0.00001
|
|
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys)
|
rs766184697
|
0.00001
|
|
NM_022455.5(NSD1):c.2103G>A (p.Lys701=)
|
rs727504053
|
0.00001
|
|
NM_022455.5(NSD1):c.2153G>A (p.Ser718Asn)
|
rs781142476
|
0.00001
|
|
NM_022455.5(NSD1):c.2331A>C (p.Leu777=)
|
rs772447375
|
0.00001
|
|
NM_022455.5(NSD1):c.2340G>A (p.Ser780=)
|
rs766703389
|
0.00001
|
|
NM_022455.5(NSD1):c.2475C>T (p.Ala825=)
|
rs781498491
|
0.00001
|
|
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg)
|
rs1442977122
|
0.00001
|
|
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp)
|
rs780991637
|
0.00001
|
|
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His)
|
rs750354456
|
0.00001
|
|
NM_022455.5(NSD1):c.3201A>G (p.Val1067=)
|
rs771361976
|
0.00001
|
|
NM_022455.5(NSD1):c.331A>G (p.Ile111Val)
|
rs1201715787
|
0.00001
|
|
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn)
|
rs1348023231
|
0.00001
|
|
NM_022455.5(NSD1):c.3426C>T (p.Asn1142=)
|
rs1182714953
|
0.00001
|
|
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His)
|
rs111638717
|
0.00001
|
|
NM_022455.5(NSD1):c.352C>G (p.Pro118Ala)
|
rs587784102
|
0.00001
|
|
NM_022455.5(NSD1):c.3770C>T (p.Thr1257Ile)
|
rs1249385869
|
0.00001
|
|
NM_022455.5(NSD1):c.3921+9C>T
|
rs192246663
|
0.00001
|
|
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln)
|
rs1388537733
|
0.00001
|
|
NM_022455.5(NSD1):c.4074G>A (p.Gln1358=)
|
rs777941389
|
0.00001
|
|
NM_022455.5(NSD1):c.4081C>G (p.Leu1361Val)
|
rs748973344
|
0.00001
|
|
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=)
|
rs1251583221
|
0.00001
|
|
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly)
|
rs570278338
|
0.00001
|
|
NM_022455.5(NSD1):c.4436C>T (p.Ala1479Val)
|
rs1766327804
|
0.00001
|
|
NM_022455.5(NSD1):c.4487C>T (p.Pro1496Leu)
|
rs1766333203
|
0.00001
|
|
NM_022455.5(NSD1):c.4551A>G (p.Glu1517=)
|
rs377275787
|
0.00001
|
|
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr)
|
rs530920626
|
0.00001
|
|
NM_022455.5(NSD1):c.4966+15T>C
|
rs587784130
|
0.00001
|
|
NM_022455.5(NSD1):c.5067C>T (p.Cys1689=)
|
rs1313604020
|
0.00001
|
|
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser)
|
rs746925986
|
0.00001
|
|
NM_022455.5(NSD1):c.5420C>T (p.Thr1807Ile)
|
rs759106773
|
0.00001
|
|
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=)
|
rs1581507735
|
0.00001
|
|
NM_022455.5(NSD1):c.5892+6A>G
|
rs1231700818
|
0.00001
|
|
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)
|
rs587784175
|
0.00001
|
|
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His)
|
rs1401142770
|
0.00001
|
|
NM_022455.5(NSD1):c.6387G>A (p.Gln2129=)
|
rs998492947
|
0.00001
|
|
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=)
|
rs771993179
|
0.00001
|
|
NM_022455.5(NSD1):c.6480G>A (p.Pro2160=)
|
rs587784203
|
0.00001
|
|
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile)
|
rs1240149522
|
0.00001
|
|
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala)
|
rs1418961998
|
0.00001
|
|
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu)
|
rs748597598
|
0.00001
|
|
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro)
|
rs770174512
|
0.00001
|
|
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu)
|
rs769699822
|
0.00001
|
|
NM_022455.5(NSD1):c.7152G>C (p.Leu2384=)
|
rs758847471
|
0.00001
|
|
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg)
|
rs921266576
|
0.00001
|
|
NM_022455.5(NSD1):c.7379A>G (p.Asp2460Gly)
|
rs1406542990
|
0.00001
|
|
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His)
|
rs587784216
|
0.00001
|
|
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro)
|
rs750441093
|
0.00001
|
|
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro)
|
rs1388409083
|
0.00001
|
|
NM_022455.5(NSD1):c.7753G>A (p.Gly2585Arg)
|
rs140839289
|
0.00001
|
|
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=)
|
rs398124388
|
0.00001
|
|
NM_022455.5(NSD1):c.7780G>A (p.Ala2594Thr)
|
rs146010779
|
0.00001
|
|
NM_022455.5(NSD1):c.7809C>G (p.Leu2603=)
|
rs769301382
|
0.00001
|
|
NM_022455.5(NSD1):c.7897C>T (p.Arg2633Trp)
|
rs758475990
|
0.00001
|
|
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr)
|
rs188326949
|
0.00001
|
|
NM_024426.6(WT1):c.1008G>A (p.Gly336=)
|
rs1369099437
|
0.00001
|
|
NM_024426.6(WT1):c.1013G>A (p.Ser338Asn)
|
rs748112905
|
0.00001
|
|
NM_024426.6(WT1):c.1016+4A>C
|
rs776489080
|
0.00001
|
|
NM_024426.6(WT1):c.1016+9A>G
|
rs772132710
|
0.00001
|
|
NM_024426.6(WT1):c.1017-19C>T
|
rs1398407708
|
0.00001
|
|
NM_024426.6(WT1):c.1029G>A (p.Gly343=)
|
rs752102247
|
0.00001
|
|
NM_024426.6(WT1):c.1033G>A (p.Glu345Lys)
|
rs547783372
|
0.00001
|
|
NM_024426.6(WT1):c.1035G>A (p.Glu345=)
|
rs757962229
|
0.00001
|
|
NM_024426.6(WT1):c.1053G>A (p.Thr351=)
|
rs1260693060
|
0.00001
|
|
NM_024426.6(WT1):c.1069G>C (p.Ala357Pro)
|
rs1362066206
|
0.00001
|
|
NM_024426.6(WT1):c.1094G>A (p.Gly365Asp)
|
rs769934402
|
0.00001
|
|
NM_024426.6(WT1):c.109G>A (p.Gly37Arg)
|
rs1397886023
|
0.00001
|
|
NM_024426.6(WT1):c.1100T>G (p.Phe367Cys)
|
rs150194429
|
0.00001
|
|
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser)
|
rs544966826
|
0.00001
|
|
NM_024426.6(WT1):c.1113+20C>T
|
rs1852095690
|
0.00001
|
|
NM_024426.6(WT1):c.1113+5G>A
|
rs930795675
|
0.00001
|
|
NM_024426.6(WT1):c.1114-7C>A
|
rs1396821797
|
0.00001
|
|
NM_024426.6(WT1):c.1117G>A (p.Val373Met)
|
rs747377024
|
0.00001
|
|
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)
|
rs1423753702
|
0.00001
|
|
NM_024426.6(WT1):c.112G>C (p.Val38Leu)
|
rs1229949294
|
0.00001
|
|
NM_024426.6(WT1):c.1135G>A (p.Val379Ile)
|
rs755936509
|
0.00001
|
|
NM_024426.6(WT1):c.1153C>T (p.Arg385Trp)
|
rs765218093
|
0.00001
|
|
NM_024426.6(WT1):c.115C>A (p.Arg39=)
|
rs763147828
|
0.00001
|
|
NM_024426.6(WT1):c.116G>A (p.Arg39Gln)
|
rs1590411426
|
0.00001
|
|
NM_024426.6(WT1):c.1198T>C (p.Tyr400His)
|
rs746353651
|
0.00001
|
|
NM_024426.6(WT1):c.1202C>T (p.Pro401Leu)
|
rs1060501258
|
0.00001
|
|
NM_024426.6(WT1):c.120C>T (p.Asp40=)
|
rs1431129227
|
0.00001
|
|
NM_024426.6(WT1):c.1210A>C (p.Asn404His)
|
rs774976881
|
0.00001
|
|
NM_024426.6(WT1):c.1211A>C (p.Asn404Thr)
|
rs748864758
|
0.00001
|
|
NM_024426.6(WT1):c.122C>T (p.Pro41Leu)
|
rs773550149
|
0.00001
|
|
NM_024426.6(WT1):c.1253G>T (p.Arg418Met)
|
rs373176048
|
0.00001
|
|
NM_024426.6(WT1):c.1278C>T (p.Tyr426=)
|
rs759955361
|
0.00001
|
|
NM_024426.6(WT1):c.1281G>A (p.Gln427=)
|
rs774650640
|
0.00001
|
|
NM_024426.6(WT1):c.133T>C (p.Trp45Arg)
|
rs1186470250
|
0.00001
|
|
NM_024426.6(WT1):c.1355-7C>T
|
rs767729335
|
0.00001
|
|
NM_024426.6(WT1):c.1371G>A (p.Gln457=)
|
rs546743811
|
0.00001
|
|
NM_024426.6(WT1):c.1385A>T (p.Gln462Leu)
|
rs533043871
|
0.00001
|
|
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
0.00001
|
|
NM_024426.6(WT1):c.1410C>T (p.His470=)
|
rs1450267173
|
0.00001
|
|
NM_024426.6(WT1):c.1434T>C (p.His478=)
|
rs761414130
|
0.00001
|
|
NM_024426.6(WT1):c.1447+20C>T
|
rs776384327
|
0.00001
|
|
NM_024426.6(WT1):c.1448-7T>C
|
rs1392191365
|
0.00001
|
|
NM_024426.6(WT1):c.1458C>A (p.Pro486=)
|
rs1220372055
|
0.00001
|
|
NM_024426.6(WT1):c.1469G>A (p.Arg490Gln)
|
rs139893274
|
0.00001
|
|
NM_024426.6(WT1):c.1477A>G (p.Ser493Gly)
|
rs776256676
|
0.00001
|
|
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg)
|
rs760370132
|
0.00001
|
|
NM_024426.6(WT1):c.149C>A (p.Ala50Asp)
|
rs967658170
|
0.00001
|
|
NM_024426.6(WT1):c.1513G>C (p.Val505Leu)
|
rs1399910889
|
0.00001
|
|
NM_024426.6(WT1):c.154G>A (p.Glu52Lys)
|
rs1212035248
|
0.00001
|
|
NM_024426.6(WT1):c.1554C>T (p.Leu518=)
|
rs267602848
|
0.00001
|
|
NM_024426.6(WT1):c.1555C>T (p.Gln519Ter)
|
rs866837692
|
0.00001
|
|
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro)
|
rs774228907
|
0.00001
|
|
NM_024426.6(WT1):c.1562C>T (p.Ala521Val)
|
rs749266841
|
0.00001
|
|
NM_024426.6(WT1):c.1568G>A (p.Ter523=)
|
rs148856160
|
0.00001
|
|
NM_024426.6(WT1):c.172C>G (p.Leu58Val)
|
rs1412425868
|
0.00001
|
|
NM_024426.6(WT1):c.186G>A (p.Arg62=)
|
rs1294714508
|
0.00001
|
|
NM_024426.6(WT1):c.195G>A (p.Gly65=)
|
rs1439699290
|
0.00001
|
|
NM_024426.6(WT1):c.200C>G (p.Ser67Cys)
|
rs1327516147
|
0.00001
|
|
NM_024426.6(WT1):c.202G>A (p.Gly68Arg)
|
rs1353446740
|
0.00001
|
|
NM_024426.6(WT1):c.211C>A (p.Pro71Thr)
|
rs1392405207
|
0.00001
|
|
NM_024426.6(WT1):c.223G>A (p.Gly75Ser)
|
rs528076586
|
0.00001
|
|
NM_024426.6(WT1):c.231C>A (p.Asp77Glu)
|
rs1193574882
|
0.00001
|
|
NM_024426.6(WT1):c.246C>T (p.Asn82=)
|
rs1205117425
|
0.00001
|
|
NM_024426.6(WT1):c.255G>A (p.Leu85=)
|
rs1239647129
|
0.00001
|
|
NM_024426.6(WT1):c.262G>A (p.Val88Ile)
|
rs1410971862
|
0.00001
|
|
NM_024426.6(WT1):c.26C>T (p.Pro9Leu)
|
rs948132360
|
0.00001
|
|
NM_024426.6(WT1):c.27G>A (p.Pro9=)
|
rs556835183
|
0.00001
|
|
NM_024426.6(WT1):c.284G>T (p.Gly95Val)
|
rs1454795891
|
0.00001
|
|
NM_024426.6(WT1):c.286G>A (p.Gly96Ser)
|
rs1060501254
|
0.00001
|
|
NM_024426.6(WT1):c.300T>A (p.Pro100=)
|
rs1255257323
|
0.00001
|
|
NM_024426.6(WT1):c.304A>G (p.Ser102Gly)
|
rs1336319420
|
0.00001
|
|
NM_024426.6(WT1):c.311C>G (p.Ala104Gly)
|
rs1044394214
|
0.00001
|
|
NM_024426.6(WT1):c.326C>G (p.Pro109Arg)
|
rs1853459569
|
0.00001
|
|
NM_024426.6(WT1):c.32C>G (p.Ser11Cys)
|
rs1412950681
|
0.00001
|
|
NM_024426.6(WT1):c.333G>T (p.Leu111=)
|
rs1853459139
|
0.00001
|
|
NM_024426.6(WT1):c.33C>T (p.Ser11=)
|
rs1352278629
|
0.00001
|
|
NM_024426.6(WT1):c.341C>A (p.Ala114Glu)
|
rs1311557029
|
0.00001
|
|
NM_024426.6(WT1):c.34A>C (p.Thr12Pro)
|
rs764111950
|
0.00001
|
|
NM_024426.6(WT1):c.350G>A (p.Gly117Asp)
|
rs939385459
|
0.00001
|
|
NM_024426.6(WT1):c.352G>C (p.Ala118Pro)
|
rs1253163678
|
0.00001
|
|
NM_024426.6(WT1):c.355T>C (p.Ser119Pro)
|
rs1187111469
|
0.00001
|
|
NM_024426.6(WT1):c.366G>A (p.Gly122=)
|
rs1362739411
|
0.00001
|
|
NM_024426.6(WT1):c.369G>C (p.Ser123=)
|
rs1485992444
|
0.00001
|
|
NM_024426.6(WT1):c.36G>T (p.Thr12=)
|
rs1313371480
|
0.00001
|
|
NM_024426.6(WT1):c.380C>G (p.Pro127Arg)
|
rs1387576357
|
0.00001
|
|
NM_024426.6(WT1):c.386C>A (p.Pro129Gln)
|
rs745435848
|
0.00001
|
|
NM_024426.6(WT1):c.392C>G (p.Pro131Arg)
|
rs1443423967
|
0.00001
|
|
NM_024426.6(WT1):c.404C>T (p.Pro135Leu)
|
rs769642496
|
0.00001
|
|
NM_024426.6(WT1):c.412C>T (p.Pro138Ser)
|
rs544477985
|
0.00001
|
|
NM_024426.6(WT1):c.429C>G (p.Ser143=)
|
rs531076591
|
0.00001
|
|
NM_024426.6(WT1):c.439C>G (p.Gln147Glu)
|
rs953087575
|
0.00001
|
|
NM_024426.6(WT1):c.440A>G (p.Gln147Arg)
|
rs764552529
|
0.00001
|
|
NM_024426.6(WT1):c.444G>A (p.Glu148=)
|
rs761166030
|
0.00001
|
|
NM_024426.6(WT1):c.459C>T (p.Gly153=)
|
rs1309250331
|
0.00001
|
|
NM_024426.6(WT1):c.468G>T (p.Pro156=)
|
rs961309280
|
0.00001
|
|
NM_024426.6(WT1):c.480G>A (p.Gln160=)
|
rs758900425
|
0.00001
|
|
NM_024426.6(WT1):c.489C>A (p.Ser163Arg)
|
rs908414065
|
0.00001
|
|
NM_024426.6(WT1):c.499G>A (p.Val167Ile)
|
rs1474496518
|
0.00001
|
|
NM_024426.6(WT1):c.531C>T (p.Ala177=)
|
rs1354094843
|
0.00001
|
|
NM_024426.6(WT1):c.53C>T (p.Ala18Val)
|
rs1853481284
|
0.00001
|
|
NM_024426.6(WT1):c.549G>A (p.Gly183=)
|
rs1199167878
|
0.00001
|
|
NM_024426.6(WT1):c.54G>A (p.Ala18=)
|
rs1409626312
|
0.00001
|
|
NM_024426.6(WT1):c.566C>T (p.Pro189Leu)
|
rs745879965
|
0.00001
|
|
NM_024426.6(WT1):c.584C>G (p.Ser195Cys)
|
rs778194188
|
0.00001
|
|
NM_024426.6(WT1):c.585C>T (p.Ser195=)
|
rs1332888095
|
0.00001
|
|
NM_024426.6(WT1):c.588C>A (p.Gly196=)
|
rs1853436844
|
0.00001
|
|
NM_024426.6(WT1):c.595A>G (p.Arg199Gly)
|
rs1307678573
|
0.00001
|
|
NM_024426.6(WT1):c.619C>T (p.Leu207=)
|
rs1060504180
|
0.00001
|
|
NM_024426.6(WT1):c.620T>G (p.Leu207Arg)
|
rs1258754686
|
0.00001
|
|
NM_024426.6(WT1):c.627C>G (p.Ser209Arg)
|
rs761530541
|
0.00001
|
|
NM_024426.6(WT1):c.641A>C (p.Gln214Pro)
|
rs771024882
|
0.00001
|
|
NM_024426.6(WT1):c.646G>A (p.Ala216Thr)
|
rs778069787
|
0.00001
|
|
NM_024426.6(WT1):c.650T>G (p.Ile217Ser)
|
rs1853431800
|
0.00001
|
|
NM_024426.6(WT1):c.658C>A (p.Gln220Lys)
|
rs373935628
|
0.00001
|
|
NM_024426.6(WT1):c.661+8G>A
|
rs1313565005
|
0.00001
|
|
NM_024426.6(WT1):c.662-17C>T
|
rs776846827
|
0.00001
|
|
NM_024426.6(WT1):c.662-19C>T
|
rs761813691
|
0.00001
|
|
NM_024426.6(WT1):c.662-5C>T
|
rs780259089
|
0.00001
|
|
NM_024426.6(WT1):c.662G>A (p.Gly221Asp)
|
rs369444006
|
0.00001
|
|
NM_024426.6(WT1):c.672G>C (p.Thr224=)
|
rs756695525
|
0.00001
|
|
NM_024426.6(WT1):c.685G>A (p.Gly229Arg)
|
rs767419243
|
0.00001
|
|
NM_024426.6(WT1):c.691C>T (p.Pro231Ser)
|
rs766425764
|
0.00001
|
|
NM_024426.6(WT1):c.710C>T (p.Pro237Leu)
|
rs760776653
|
0.00001
|
|
NM_024426.6(WT1):c.71G>A (p.Arg24His)
|
rs1330792627
|
0.00001
|
|
NM_024426.6(WT1):c.724G>A (p.Ala242Thr)
|
rs1590395740
|
0.00001
|
|
NM_024426.6(WT1):c.741C>T (p.His247=)
|
rs1050903370
|
0.00001
|
|
NM_024426.6(WT1):c.75C>T (p.Ser25=)
|
rs1417997475
|
0.00001
|
|
NM_024426.6(WT1):c.761C>T (p.Pro254Leu)
|
rs1213160959
|
0.00001
|
|
NM_024426.6(WT1):c.763A>G (p.Met255Val)
|
rs142653301
|
0.00001
|
|
NM_024426.6(WT1):c.76G>A (p.Gly26Arg)
|
rs1189241211
|
0.00001
|
|
NM_024426.6(WT1):c.771G>T (p.Gln257His)
|
rs1853140764
|
0.00001
|
|
NM_024426.6(WT1):c.777C>T (p.Gly259=)
|
rs1395854761
|
0.00001
|
|
NM_024426.6(WT1):c.77G>A (p.Gly26Glu)
|
rs1484558172
|
0.00001
|
|
NM_024426.6(WT1):c.780G>T (p.Ser260=)
|
rs1403311573
|
0.00001
|
|
NM_024426.6(WT1):c.784+17A>G
|
rs1458877359
|
0.00001
|
|
NM_024426.6(WT1):c.803T>G (p.Val268Gly)
|
rs765230888
|
0.00001
|
|
NM_024426.6(WT1):c.810C>A (p.Pro270=)
|
rs1357760274
|
0.00001
|
|
NM_024426.6(WT1):c.815T>C (p.Val272Ala)
|
rs1298646630
|
0.00001
|
|
NM_024426.6(WT1):c.819T>C (p.Tyr273=)
|
rs766642594
|
0.00001
|
|
NM_024426.6(WT1):c.81T>C (p.Pro27=)
|
rs755007049
|
0.00001
|
|
NM_024426.6(WT1):c.832C>G (p.Pro278Ala)
|
rs773527284
|
0.00001
|
|
NM_024426.6(WT1):c.83G>A (p.Gly28Glu)
|
rs751641518
|
0.00001
|
|
NM_024426.6(WT1):c.846C>T (p.Cys282=)
|
rs1281989931
|
0.00001
|
|
NM_024426.6(WT1):c.850G>A (p.Gly284Ser)
|
rs1271732325
|
0.00001
|
|
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr)
|
rs992227366
|
0.00001
|
|
NM_024426.6(WT1):c.887+11G>T
|
rs1286407878
|
0.00001
|
|
NM_024426.6(WT1):c.887+19C>G
|
rs755113185
|
0.00001
|
|
NM_024426.6(WT1):c.887+7A>G
|
rs1301545818
|
0.00001
|
|
NM_024426.6(WT1):c.945C>T (p.Asn315=)
|
rs775085343
|
0.00001
|
|
NM_024426.6(WT1):c.965+11C>A
|
rs905888905
|
0.00001
|
|
NM_024426.6(WT1):c.965+1G>A
|
rs771527206
|
0.00001
|
|
NM_024426.6(WT1):c.966-16T>A
|
rs1224574539
|
0.00001
|
|
NM_024426.6(WT1):c.966-17C>T
|
rs1247254852
|
0.00001
|
|
NM_024426.6(WT1):c.966-19A>T
|
rs1488183155
|
0.00001
|
|
NM_024426.6(WT1):c.973G>A (p.Ala325Thr)
|
rs1712081462
|
0.00001
|
|
NM_024426.6(WT1):c.977G>C (p.Gly326Ala)
|
rs766054482
|
0.00001
|
|
NM_024426.6(WT1):c.980G>A (p.Ser327Asn)
|
rs1308955642
|
0.00001
|
|
NM_080647.1(TBX1):c.34+6C>T
|
rs1263773731
|
0.00001
|
|
NC_000002.11:g.(?_148730288)_(149270510_?)del
|
|
|
|
NC_000002.11:g.(?_149216308)_(149270530_?)dup
|
|
|
|
NC_000002.11:g.(?_149216328)_(149221508_?)dup
|
|
|
|
NC_000002.11:g.(?_149216328)_(149228050_?)del
|
|
|
|
NC_000002.11:g.(?_149216328)_(149270510_?)dup
|
|
|
|
NC_000002.11:g.(?_149267619)_(149267714_?)dup
|
|
|
|
NC_000002.11:g.(?_200136914)_(200298257_?)dup
|
|
|
|
NC_000002.11:g.(?_200136914)_(200320780_?)del
|
|
|
|
NC_000002.11:g.(?_200136934)_(200246563_?)dup
|
|
|
|
NC_000002.11:g.(?_200136934)_(200320760_?)dup
|
|
|
|
NC_000002.11:g.(?_200173463)_(200320760_?)del
|
|
|
|
NC_000002.11:g.(?_200173463)_(200320780_?)dup
|
|
|
|
NC_000002.11:g.(?_200213424)_(200246543_?)dup
|
|
|
|
NC_000002.11:g.(?_200245067)_(200320760_?)dup
|
|
|
|
NC_000002.11:g.(?_200320572)_(200320780_?)dup
|
|
|
|
NC_000002.12:g.(?_148458739)_(148463939_?)del
|
|
|
|
NC_000002.12:g.(?_148458739)_(148512961_?)del
|
|
|
|
NC_000002.12:g.(?_148458759)_(148512941_?)del
|
|
|
|
NC_000002.12:g.(?_199348681)_(199433534_?)del
|
|
|
|
NC_000002.12:g.(?_199380344)_(199433534_?)dup
|
|
|
|
NC_000005.10:g.(?_177135094)_(177295469_?)del
|
|
|
|
NC_000005.10:g.(?_177235801)_(177239885_?)del
|
|
|
|
NC_000005.10:g.(?_177280545)_(177283948_?)del
|
|
|
|
NC_000005.10:g.(?_177288799)_(177288945_?)del
|
|
|
|
NC_000005.10:g.(?_88722584)_(88823808_?)del
|
|
|
|
NC_000005.10:g.(?_88804588)_(88884466_?)del
|
|
|
|
NC_000005.10:g.88731902del
|
|
|
|
NC_000005.9:g.(?_175158654)_(179263593_?)dup
|
|
|
|
NC_000005.9:g.(?_176289625)_(177151363_?)del
|
|
|
|
NC_000005.9:g.(?_176618865)_(176619040_?)dup
|
|
|
|
NC_000005.9:g.(?_176618865)_(177036696_?)dup
|
|
|
|
NC_000005.9:g.(?_176631101)_(176631313_?)dup
|
|
|
|
NC_000005.9:g.(?_176638041)_(176722460_?)del
|
|
|
|
NC_000005.9:g.(?_176662802)_(176662966_?)dup
|
|
|
|
NC_000005.9:g.(?_176720813)_(176722460_?)del
|
|
|
|
NC_000005.9:g.(?_87776690)_(88119605_?)del
|
|
|
|
NC_000005.9:g.(?_88027526)_(88027738_?)del
|
|
|
|
NC_000005.9:g.(?_88047654)_(88047880_?)del
|
|
|
|
NC_000005.9:g.(?_88056982)_(88119605_?)del
|
|
|
|
NC_000005.9:g.(?_88100395)_(88100638_?)del
|
|
|
|
NC_000005.9:g.(?_88100395)_(88119605_?)del
|
|
|
|
NC_000011.10:g.(?_32389048)_(32435355_?)del
|
|
|
|
NC_000011.10:g.(?_32389058)_(32435345_?)del
|
|
|
|
NC_000011.10:g.(?_32396247)_(32400054_?)del
|
|
|
|
NC_000011.10:g.(?_32396251)_(32417660_?)del
|
|
|
|
NC_000011.10:g.(?_32416480)_(32417664_?)del
|
|
|
|
NC_000011.10:g.(?_32434690)_(32435345_?)del
|
|
|
|
NC_000011.10:g.32396408del
|
rs2132942367
|
|
|
NC_000011.9:g.(?_31284590)_(32456911_?)del
|
|
|
|
NC_000011.9:g.(?_32410594)_(32421600_?)dup
|
|
|
|
NC_000011.9:g.(?_32410604)_(32410745_?)dup
|
|
|
|
NC_000011.9:g.(?_32410604)_(32460464_?)del
|
|
|
|
NC_000011.9:g.(?_32421484)_(32421600_?)del
|
|
|
|
NC_000011.9:g.(?_32456236)_(32460464_?)del
|
|
|
|
NC_000011.9:g.(?_95523863)_(95564420_?)del
|
|
|
|
NC_000011.9:g.(?_95523863)_(95569448_?)dup
|
|
|
|
NC_000011.9:g.(?_95549619)_(95562458_?)del
|
|
|
|
NC_000011.9:g.(?_95550941)_(95551077_?)del
|
|
|
|
NC_000015.10:g.(?_40183704)_(40185652_?)del
|
|
|
|
NC_000015.10:g.(?_90747383)_(90751956_?)del
|
|
|
|
NC_000015.10:g.(?_90747383)_(90769596_?)dup
|
|
|
|
NC_000015.10:g.(?_90747393)_(90815279_?)del
|
|
|
|
NC_000015.10:g.(?_90749357)_(90765424_?)del
|
|
|
|
NC_000015.10:g.(?_90754801)_(90754948_?)del
|
|
|
|
NC_000015.10:g.(?_90766904)_(90767029_?)del
|
|
|
|
NC_000015.10:g.(?_90769123)_(90769596_?)del
|
|
|
|
NC_000015.10:g.(?_90782812)_(90785091_?)del
|
|
|
|
NC_000015.10:g.(?_90782812)_(90968837_?)dup
|
|
|
|
NC_000015.10:g.(?_90790639)_(90790854_?)del
|
|
|
|
NC_000015.10:g.(?_90790643)_(90790850_?)del
|
|
|
|
NC_000015.10:g.(?_90794157)_(90798347_?)del
|
|
|
|
NC_000015.10:g.(?_90803511)_(90804369_?)del
|
|
|
|
NC_000015.10:g.(?_90809127)_(90815289_?)del
|
|
|
|
NC_000015.10:g.(?_90811195)_(90811416_?)del
|
|
|
|
NC_000015.9:g.(?_32964879)_(91358519_?)dup
|
|
|
|
NC_000015.9:g.(?_40453416)_(40512966_?)dup
|
|
|
|
NC_000015.9:g.(?_40453422)_(40457417_?)del
|
|
|
|
NC_000015.9:g.(?_40453422)_(40512960_?)dup
|
|
|
|
NC_000015.9:g.(?_40457244)_(40457407_?)dup
|
|
|
|
NC_000015.9:g.(?_91259558)_(91359692_?)dup
|
|
|
|
NC_000015.9:g.(?_91290613)_(91298178_?)dup
|
|
|
|
NC_000015.9:g.(?_91290613)_(91312826_?)del
|
|
|
|
NC_000015.9:g.(?_91290613)_(91354646_?)del
|
|
|
|
NC_000015.9:g.(?_91290617)_(91358515_?)dup
|
|
|
|
NC_000015.9:g.(?_91290623)_(91290730_?)del
|
|
|
|
NC_000015.9:g.(?_91290623)_(91298188_?)del
|
|
|
|
NC_000015.9:g.(?_91290623)_(91358509_?)dup
|
|
|
|
NC_000015.9:g.(?_91290623)_(91512067_?)dup
|
|
|
|
NC_000015.9:g.(?_91295007)_(91295186_?)del
|
|
|
|
NC_000015.9:g.(?_91305197)_(91306180_?)del
|
|
|
|
NC_000015.9:g.(?_91310130)_(91310263_?)del
|
|
|
|
NC_000015.9:g.(?_91310130)_(91312471_?)dup
|
|
|
|
NC_000015.9:g.(?_91310134)_(91310259_?)del
|
|
|
|
NC_000015.9:g.(?_91326032)_(91326178_?)del
|
|
|
|
NC_000015.9:g.(?_91326042)_(91328321_?)dup
|
|
|
|
NC_000015.9:g.(?_91326042)_(91334084_?)dup
|
|
|
|
NC_000015.9:g.(?_91326042)_(91358509_?)del
|
|
|
|
NC_000015.9:g.(?_91333859)_(91334094_?)del
|
|
|
|
NC_000015.9:g.(?_91341410)_(91341577_?)del
|
|
|
|
NC_000015.9:g.(?_91341410)_(91341577_?)dup
|
|
|
|
NC_000015.9:g.(?_91341410)_(91358509_?)dup
|
|
|
|
NC_000015.9:g.(?_91341448)_(91344889_?)del
|
|
|
|
NC_000015.9:g.(?_91346741)_(91358509_?)del
|
|
|
|
NC_000015.9:g.(?_91346741)_(91358519_?)del
|
|
|
|
NC_000015.9:g.(?_91352357)_(91358509_?)del
|
|
|
|
NC_000015.9:g.(?_91358322)_(91358509_?)dup
|
|
|
|
NC_000015.9:g.(?_91358322)_(91358519_?)del
|
|
|
|
NC_000022.10:g.(?_18900668)_(19747220_?)del
|
|
|
|
NC_000022.10:g.(?_18900668)_(19770565_?)del
|
|
|
|
NC_000022.10:g.(?_18900668)_(19770565_?)dup
|
|
|
|
NC_000022.10:g.(?_18900688)_(21351637_?)del
|
|
|
|
NC_000022.10:g.(?_18900688)_(21351637_?)dup
|
|
|
|
NC_000022.10:g.(?_18910310)_(19770565_?)del
|
|
|
|
NC_000022.10:g.(?_18910310)_(19770565_?)dup
|
|
|
|
NC_000022.10:g.(?_19163623)_(19770565_?)del
|
|
|
|
NC_000022.10:g.(?_19743226)_(19755855_?)del
|
|
|
|
NC_000022.10:g.(?_19743226)_(19755855_?)dup
|
|
|
|
NC_000022.10:g.(?_19747167)_(19754390_?)del
|
|
|
|
NC_000022.10:g.(?_19748454)_19748649del
|
|
|
|
NC_000022.11:g.(?_19722428)_(19975757_?)del
|
|
|
|
NC_000022.11:g.(?_19755901)_(19759687_?)del
|
|
|
|
NC_000022.11:g.(?_19755901)_(19766877_?)del
|
|
|
|
NC_000022.11:g.(?_19755901)_(19783042_?)del
|
|
|
|
NC_000022.11:g.(?_19755950)_(19759697_?)del
|
|
|
|
NM_000057.4(BLM):c.1001T>A (p.Val334Asp)
|
rs1895775882
|
|
|
NM_000057.4(BLM):c.1003C>G (p.Leu335Val)
|
rs1265514490
|
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
|
NM_000057.4(BLM):c.1007G>A (p.Ser336Asn)
|
rs2151152181
|
|
|
NM_000057.4(BLM):c.1008C>T (p.Ser336=)
|
rs1490955099
|
|
|
NM_000057.4(BLM):c.1011A>T (p.Thr337=)
|
rs773511833
|
|
|
NM_000057.4(BLM):c.1012T>C (p.Ser338Pro)
|
|
|
|
NM_000057.4(BLM):c.1012T>G (p.Ser338Ala)
|
rs2151152195
|
|
|
NM_000057.4(BLM):c.1014A>C (p.Ser338=)
|
rs1251803802
|
|
|
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu)
|
rs1596223833
|
|
|
NM_000057.4(BLM):c.1018G>A (p.Asp340Asn)
|
rs1596223836
|
|
|
NM_000057.4(BLM):c.1018G>C (p.Asp340His)
|
rs1596223836
|
|
|
NM_000057.4(BLM):c.1020T>A (p.Asp340Glu)
|
rs2151152205
|
|
|
NM_000057.4(BLM):c.1021C>A (p.Leu341Ile)
|
|
|
|
NM_000057.4(BLM):c.1021C>T (p.Leu341Phe)
|
rs2151152210
|
|
|
NM_000057.4(BLM):c.1023T>C (p.Leu341=)
|
|
|
|
NM_000057.4(BLM):c.1023T>G (p.Leu341=)
|
rs28385006
|
|
|
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser)
|
rs1596223853
|
|
|
NM_000057.4(BLM):c.1027T>A (p.Ser343Thr)
|
rs776620199
|
|
|
NM_000057.4(BLM):c.1034C>T (p.Pro345Leu)
|
|
|
|
NM_000057.4(BLM):c.1037A>C (p.Glu346Ala)
|
rs1946402648
|
|
|
NM_000057.4(BLM):c.1041A>G (p.Lys347=)
|
|
|
|
NM_000057.4(BLM):c.1043T>C (p.Met348Thr)
|
|
|
|
NM_000057.4(BLM):c.1043dup (p.Met348fs)
|
rs1567038003
|
|
|
NM_000057.4(BLM):c.1044G>T (p.Met348Ile)
|
rs184657475
|
|
|
NM_000057.4(BLM):c.1045A>G (p.Ser349Gly)
|
rs1895778101
|
|
|
NM_000057.4(BLM):c.1045_1050del (p.Ser349_Met350del)
|
|
|
|
NM_000057.4(BLM):c.1046G>A (p.Ser349Asn)
|
rs761783430
|
|
|
NM_000057.4(BLM):c.1049T>C (p.Met350Thr)
|
|
|
|
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)
|
|
|
|
NM_000057.4(BLM):c.1052A>G (p.Gln351Arg)
|
|
|
|
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys)
|
rs369583279
|
|
|
NM_000057.4(BLM):c.1057C>G (p.Leu353Val)
|
rs1895778737
|
|
|
NM_000057.4(BLM):c.1063C>G (p.Pro355Ala)
|
rs1895778825
|
|
|
NM_000057.4(BLM):c.1064C>A (p.Pro355Gln)
|
|
|
|
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg)
|
rs1022898915
|
|
|
NM_000057.4(BLM):c.1064C>T (p.Pro355Leu)
|
rs1022898915
|
|
|
NM_000057.4(BLM):c.1071C>T (p.Thr357=)
|
rs1596223942
|
|
|
NM_000057.4(BLM):c.1072A>C (p.Ser358Arg)
|
rs1336484885
|
|
|
NM_000057.4(BLM):c.1073G>A (p.Ser358Asn)
|
|
|
|
NM_000057.4(BLM):c.1073G>T (p.Ser358Ile)
|
rs750203166
|
|
|
NM_000057.4(BLM):c.1074C>T (p.Ser358=)
|
rs372459059
|
|
|
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)
|
rs1332024999
|
|
|
NM_000057.4(BLM):c.1077A>G (p.Thr359=)
|
rs1361847926
|
|
|
NM_000057.4(BLM):c.1079A>G (p.Asp360Gly)
|
|
|
|
NM_000057.4(BLM):c.107C>G (p.Thr36Ser)
|
rs1895599706
|
|
|
NM_000057.4(BLM):c.1083T>C (p.Cys361=)
|
|
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
|
NM_000057.4(BLM):c.1087+11T>C
|
rs2151152365
|
|
|
NM_000057.4(BLM):c.1087+12A>G
|
|
|
|
NM_000057.4(BLM):c.1087+15T>G
|
|
|
|
NM_000057.4(BLM):c.1087+19A>G
|
|
|
|
NM_000057.4(BLM):c.1087+1G>A
|
rs1179486581
|
|
|
NM_000057.4(BLM):c.1087+20C>T
|
rs1186216476
|
|
|
NM_000057.4(BLM):c.1087+2T>C
|
|
|
|
NM_000057.4(BLM):c.1087+5A>G
|
|
|
|
NM_000057.4(BLM):c.1087+7G>A
|
rs2151152360
|
|
|
NM_000057.4(BLM):c.1087+8C>A
|
rs1895780097
|
|
|
NM_000057.4(BLM):c.1087+9A>C
|
|
|
|
NM_000057.4(BLM):c.1088-13A>T
|
|
|
|
NM_000057.4(BLM):c.1088-17A>G
|
rs747396397
|
|
|
NM_000057.4(BLM):c.1088-17_1088-15del
|
rs750254937
|
|
|
NM_000057.4(BLM):c.1088-18A>G
|
rs2151157054
|
|
|
NM_000057.4(BLM):c.1088-19C>G
|
|
|
|
NM_000057.4(BLM):c.1088-1G>A
|
rs1555419696
|
|
|
NM_000057.4(BLM):c.1088-5T>A
|
|
|
|
NM_000057.4(BLM):c.1088-5del
|
rs1596228766
|
|
|
NM_000057.4(BLM):c.1088-8T>G
|
rs1596228765
|
|
|
NM_000057.4(BLM):c.1088-9A>T
|
|
|
|
NM_000057.4(BLM):c.1088C>T (p.Ala363Val)
|
rs1567040460
|
|
|
NM_000057.4(BLM):c.1089T>C (p.Ala363=)
|
rs2151157107
|
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
|
NM_000057.4(BLM):c.1092A>G (p.Arg364=)
|
rs2151157122
|
|
|
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
|
|
|
|
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer)
|
rs2151157115
|
|
|
NM_000057.4(BLM):c.1095G>A (p.Gln365=)
|
|
|
|
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu)
|
rs552913880
|
|
|
NM_000057.4(BLM):c.1098A>G (p.Ile366Met)
|
|
|
|
NM_000057.4(BLM):c.10G>A (p.Val4Ile)
|
rs1466614215
|
|
|
NM_000057.4(BLM):c.10G>C (p.Val4Leu)
|
rs1466614215
|
|
|
NM_000057.4(BLM):c.10G>T (p.Val4Phe)
|
rs1466614215
|
|
|
NM_000057.4(BLM):c.1100G>C (p.Ser367Thr)
|
|
|
|
NM_000057.4(BLM):c.1101T>C (p.Ser367=)
|
|
|
|
NM_000057.4(BLM):c.1105C>A (p.Gln369Lys)
|
rs1049658021
|
|
|
NM_000057.4(BLM):c.1105C>G (p.Gln369Glu)
|
|
|
|
NM_000057.4(BLM):c.1107G>A (p.Gln369=)
|
rs1895931307
|
|
|
NM_000057.4(BLM):c.1107G>T (p.Gln369His)
|
rs1895931307
|
|
|
NM_000057.4(BLM):c.1109A>C (p.Gln370Pro)
|
rs773198283
|
|
|
NM_000057.4(BLM):c.1110G>A (p.Gln370=)
|
rs2151157206
|
|
|
NM_000057.4(BLM):c.1113G>A (p.Gln371=)
|
rs760446922
|
|
|
NM_000057.4(BLM):c.1114C>A (p.Leu372Ile)
|
rs1480729955
|
|
|
NM_000057.4(BLM):c.1114C>T (p.Leu372Phe)
|
rs1480729955
|
|
|
NM_000057.4(BLM):c.1115T>C (p.Leu372Pro)
|
|
|
|
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn)
|
rs1060500630
|
|
|
NM_000057.4(BLM):c.1118T>C (p.Ile373Thr)
|
|
|
|
NM_000057.4(BLM):c.1120C>G (p.His374Asp)
|
rs2151157246
|
|
|
NM_000057.4(BLM):c.1123G>C (p.Val375Leu)
|
rs1596228852
|
|
|
NM_000057.4(BLM):c.1125G>A (p.Val375=)
|
rs2151157267
|
|
|
NM_000057.4(BLM):c.1126A>C (p.Met376Leu)
|
rs1895932695
|
|
|
NM_000057.4(BLM):c.1127T>C (p.Met376Thr)
|
rs2151157273
|
|
|
NM_000057.4(BLM):c.1128G>A (p.Met376Ile)
|
|
|
|
NM_000057.4(BLM):c.1129del (p.Glu377fs)
|
rs1555419710
|
|
|
NM_000057.4(BLM):c.1131G>A (p.Glu377=)
|
rs764842587
|
|
|
NM_000057.4(BLM):c.1131G>C (p.Glu377Asp)
|
rs764842587
|
|
|
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr)
|
rs1555419713
|
|
|
NM_000057.4(BLM):c.1135A>G (p.Ile379Val)
|
rs1895933431
|
|
|
NM_000057.4(BLM):c.1136T>G (p.Ile379Ser)
|
rs1408233877
|
|
|
NM_000057.4(BLM):c.1137C>G (p.Ile379Met)
|
rs1178783782
|
|
|
NM_000057.4(BLM):c.1137C>T (p.Ile379=)
|
|
|
|
NM_000057.4(BLM):c.1139G>A (p.Cys380Tyr)
|
|
|
|
NM_000057.4(BLM):c.113A>C (p.Lys38Thr)
|
rs2151146691
|
|
|
NM_000057.4(BLM):c.113A>G (p.Lys38Arg)
|
rs2151146691
|
|
|
NM_000057.4(BLM):c.1147A>G (p.Ile383Val)
|
rs1895933936
|
|
|
NM_000057.4(BLM):c.1150G>A (p.Asp384Asn)
|
|
|
|
NM_000057.4(BLM):c.1150G>C (p.Asp384His)
|
rs1895934142
|
|
|
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala)
|
rs1895934308
|
|
|
NM_000057.4(BLM):c.1154del (p.Thr385fs)
|
|
|
|
NM_000057.4(BLM):c.1157T>G (p.Ile386Ser)
|
rs2151157373
|
|
|
NM_000057.4(BLM):c.1159C>A (p.Pro387Thr)
|
|
|
|
NM_000057.4(BLM):c.1163A>G (p.Asp388Gly)
|
|
|
|
NM_000057.4(BLM):c.1164T>C (p.Asp388=)
|
rs2151157391
|
|
|
NM_000057.4(BLM):c.1165G>C (p.Asp389His)
|
rs746170218
|
|
|
NM_000057.4(BLM):c.1166A>G (p.Asp389Gly)
|
rs1555419732
|
|
|
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr)
|
rs1596228946
|
|
|
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter)
|
rs1596228957
|
|
|
NM_000057.4(BLM):c.1176dup (p.Leu393fs)
|
rs1358266880
|
|
|
NM_000057.4(BLM):c.1177C>T (p.Leu393Phe)
|
rs1895935448
|
|
|
NM_000057.4(BLM):c.1180T>C (p.Leu394=)
|
rs2151157434
|
|
|
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs)
|
rs758132052
|
|
|
NM_000057.4(BLM):c.1185T>C (p.Asp395=)
|
rs2151157439
|
|
|
NM_000057.4(BLM):c.1188T>C (p.Cys396=)
|
rs756454608
|
|
|
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu)
|
rs1596228978
|
|
|
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys)
|
rs538728271
|
|
|
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)
|
|
|
|
NM_000057.4(BLM):c.1198C>G (p.Leu400Val)
|
|
|
|
NM_000057.4(BLM):c.11T>A (p.Val4Asp)
|
rs144706057
|
|
|
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe)
|
rs151150267
|
|
|
NM_000057.4(BLM):c.1204C>G (p.Gln402Glu)
|
|
|
|
NM_000057.4(BLM):c.1204dup (p.Gln402fs)
|
|
|
|
NM_000057.4(BLM):c.1205A>G (p.Gln402Arg)
|
|
|
|
NM_000057.4(BLM):c.1205A>T (p.Gln402Leu)
|
|
|
|
NM_000057.4(BLM):c.1208A>C (p.Gln403Pro)
|
|
|
|
NM_000057.4(BLM):c.1209G>A (p.Gln403=)
|
rs1555419741
|
|
|
NM_000057.4(BLM):c.1209G>C (p.Gln403His)
|
rs1555419741
|
|
|
NM_000057.4(BLM):c.1211G>T (p.Arg404Leu)
|
rs776516663
|
|
|
NM_000057.4(BLM):c.1212G>A (p.Arg404=)
|
|
|
|
NM_000057.4(BLM):c.1212G>C (p.Arg404=)
|
|
|
|
NM_000057.4(BLM):c.1212G>T (p.Arg404=)
|
rs759308711
|
|
|
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser)
|
rs752223894
|
|
|
NM_000057.4(BLM):c.1216A>G (p.Ile406Val)
|
rs769498398
|
|
|
NM_000057.4(BLM):c.1217T>C (p.Ile406Thr)
|
rs2151157512
|
|
|
NM_000057.4(BLM):c.1218A>C (p.Ile406=)
|
|
|
|
NM_000057.4(BLM):c.1220+11T>A
|
|
|
|
NM_000057.4(BLM):c.1220+11T>G
|
|
|
|
NM_000057.4(BLM):c.1220+14C>A
|
|
|
|
NM_000057.4(BLM):c.1220+14C>G
|
|
|
|
NM_000057.4(BLM):c.1220+17C>G
|
|
|
|
NM_000057.4(BLM):c.1220+18C>T
|
|
|
|
NM_000057.4(BLM):c.1220+18del
|
|
|
|
NM_000057.4(BLM):c.1220+2T>C
|
|
|
|
NM_000057.4(BLM):c.1220+2T>G
|
|
|
|
NM_000057.4(BLM):c.1220+3A>G
|
rs1429490877
|
|
|
NM_000057.4(BLM):c.1220+3A>T
|
|
|
|
NM_000057.4(BLM):c.1220G>A (p.Arg407Lys)
|
rs1350192744
|
|
|
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
|
rs1350192744
|
|
|
NM_000057.4(BLM):c.1221-11T>C
|
|
|
|
NM_000057.4(BLM):c.1221-11del
|
|
|
|
NM_000057.4(BLM):c.1221-12_1221-11del
|
rs1895945037
|
|
|
NM_000057.4(BLM):c.1221-15C>G
|
rs1038629873
|
|
|
NM_000057.4(BLM):c.1221-16T>C
|
rs2151157723
|
|
|
NM_000057.4(BLM):c.1221-20G>A
|
rs2151157720
|
|
|
NM_000057.4(BLM):c.1221-2A>C
|
rs1555419779
|
|
|
NM_000057.4(BLM):c.1221-3C>T
|
|
|
|
NM_000057.4(BLM):c.1221-6C>A
|
|
|
|
NM_000057.4(BLM):c.1221-6C>G
|
rs1555419778
|
|
|
NM_000057.4(BLM):c.1221-6C>T
|
rs1555419778
|
|
|
NM_000057.4(BLM):c.1221-7T>G
|
|
|
|
NM_000057.4(BLM):c.1221-8C>G
|
|
|
|
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser)
|
rs900060314
|
|
|
NM_000057.4(BLM):c.1221A>G (p.Arg407=)
|
rs900060314
|
|
|
NM_000057.4(BLM):c.1225A>G (p.Lys409Glu)
|
|
|
|
NM_000057.4(BLM):c.1228C>G (p.Leu410Val)
|
rs200688933
|
|
|
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe)
|
rs200688933
|
|
|
NM_000057.4(BLM):c.1231C>G (p.Leu411Val)
|
rs1567040779
|
|
|
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter)
|
|
|
|
NM_000057.4(BLM):c.1236G>T (p.Thr412=)
|
rs762617509
|
|
|
NM_000057.4(BLM):c.1237G>C (p.Glu413Gln)
|
rs887921909
|
|
|
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)
|
rs887921909
|
|
|
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
|
|
|
|
NM_000057.4(BLM):c.1243G>C (p.Asp415His)
|
|
|
|
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
|
|
|
|
NM_000057.4(BLM):c.1250A>G (p.Asn417Ser)
|
rs2151157798
|
|
|
NM_000057.4(BLM):c.1251T>C (p.Asn417=)
|
rs1555419791
|
|
|
NM_000057.4(BLM):c.1253A>T (p.Lys418Ile)
|
|
|
|
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer)
|
rs1895946786
|
|
|
NM_000057.4(BLM):c.1255del (p.Ser419fs)
|
rs1895946786
|
|
|
NM_000057.4(BLM):c.1258G>C (p.Asp420His)
|
rs1895947012
|
|
|
NM_000057.4(BLM):c.1259A>G (p.Asp420Gly)
|
rs773952896
|
|
|
NM_000057.4(BLM):c.125C>T (p.Ser42Phe)
|
rs763065919
|
|
|
NM_000057.4(BLM):c.1261G>T (p.Ala421Ser)
|
rs587779879
|
|
|
NM_000057.4(BLM):c.1262C>G (p.Ala421Gly)
|
|
|
|
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del)
|
rs777886082
|
|
|
NM_000057.4(BLM):c.1269T>C (p.Leu423=)
|
|
|
|
NM_000057.4(BLM):c.1274G>A (p.Gly425Asp)
|
rs1244225539
|
|
|
NM_000057.4(BLM):c.1278A>C (p.Ser426=)
|
rs1596229500
|
|
|
NM_000057.4(BLM):c.1278A>G (p.Ser426=)
|
rs1596229500
|
|
|
NM_000057.4(BLM):c.1279T>C (p.Leu427=)
|
rs2151157855
|
|
|
NM_000057.4(BLM):c.1280T>G (p.Leu427Trp)
|
|
|
|
NM_000057.4(BLM):c.1281G>A (p.Leu427=)
|
rs2151157860
|
|
|
NM_000057.4(BLM):c.1287A>C (p.Arg429Ser)
|
|
|
|
NM_000057.4(BLM):c.1287A>T (p.Arg429Ser)
|
rs1895949043
|
|
|
NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe)
|
|
|
|
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter)
|
rs749512704
|
|
|
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
|
|
|
|
NM_000057.4(BLM):c.1290C>T (p.Tyr430=)
|
rs766861351
|
|
|
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer)
|
rs1555419806
|
|
|
NM_000057.4(BLM):c.1296T>C (p.Pro432=)
|
rs1555419811
|
|
|
NM_000057.4(BLM):c.1296T>G (p.Pro432=)
|
|
|
|
NM_000057.4(BLM):c.1299T>A (p.Asp433Glu)
|
|
|
|
NM_000057.4(BLM):c.1299T>C (p.Asp433=)
|
|
|
|
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr)
|
rs778786003
|
|
|
NM_000057.4(BLM):c.1304T>C (p.Leu435Pro)
|
|
|
|
NM_000057.4(BLM):c.1305T>G (p.Leu435=)
|
rs778967807
|
|
|
NM_000057.4(BLM):c.1308T>G (p.Asp436Glu)
|
rs140178590
|
|
|
NM_000057.4(BLM):c.130G>A (p.Asp44Asn)
|
|
|
|
NM_000057.4(BLM):c.130G>T (p.Asp44Tyr)
|
rs1249086421
|
|
|
NM_000057.4(BLM):c.1312C>T (p.Pro438Ser)
|
|
|
|
NM_000057.4(BLM):c.1313C>T (p.Pro438Leu)
|
|
|
|
NM_000057.4(BLM):c.1314T>C (p.Pro438=)
|
rs1225205444
|
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
|
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly)
|
rs1567040910
|
|
|
NM_000057.4(BLM):c.131A>G (p.Asp44Gly)
|
rs1895600607
|
|
|
NM_000057.4(BLM):c.1321G>A (p.Gly441Ser)
|
|
|
|
NM_000057.4(BLM):c.1322G>T (p.Gly441Val)
|
rs2151157998
|
|
|
NM_000057.4(BLM):c.1326T>C (p.Asp442=)
|
rs2151158008
|
|
|
NM_000057.4(BLM):c.1329C>A (p.Ser443=)
|
|
|
|
NM_000057.4(BLM):c.1329C>T (p.Ser443=)
|
|
|
|
NM_000057.4(BLM):c.1330T>G (p.Cys444Gly)
|
rs745820610
|
|
|
NM_000057.4(BLM):c.1331G>A (p.Cys444Tyr)
|
|
|
|
NM_000057.4(BLM):c.1331G>T (p.Cys444Phe)
|
rs1555419834
|
|
|
NM_000057.4(BLM):c.1332C>T (p.Cys444=)
|
rs1895952071
|
|
|
NM_000057.4(BLM):c.1336A>G (p.Thr446Ala)
|
|
|
|
NM_000057.4(BLM):c.1336A>T (p.Thr446Ser)
|
rs1567040932
|
|
|
NM_000057.4(BLM):c.1337C>T (p.Thr446Ile)
|
|
|
|
NM_000057.4(BLM):c.1338A>G (p.Thr446=)
|
rs2151158038
|
|
|
NM_000057.4(BLM):c.1339G>T (p.Gly447Trp)
|
|
|
|
NM_000057.4(BLM):c.133A>G (p.Asn45Asp)
|
|
|
|
NM_000057.4(BLM):c.1341G>T (p.Gly447=)
|
|
|
|
NM_000057.4(BLM):c.1341del (p.Asn448fs)
|
rs2151158046
|
|
|
NM_000057.4(BLM):c.1345T>A (p.Ser449Thr)
|
rs1895952979
|
|
|
NM_000057.4(BLM):c.1346C>A (p.Ser449Tyr)
|
rs967698170
|
|
|
NM_000057.4(BLM):c.1346C>G (p.Ser449Cys)
|
rs967698170
|
|
|
NM_000057.4(BLM):c.1347T>C (p.Ser449=)
|
rs1481709366
|
|
|
NM_000057.4(BLM):c.1348A>C (p.Met450Leu)
|
|
|
|
NM_000057.4(BLM):c.1349T>A (p.Met450Lys)
|
rs2151158079
|
|
|
NM_000057.4(BLM):c.1349T>C (p.Met450Thr)
|
rs2151158079
|
|
|
NM_000057.4(BLM):c.134A>G (p.Asn45Ser)
|
rs1555418242
|
|
|
NM_000057.4(BLM):c.1356G>A (p.Glu452=)
|
|
|
|
NM_000057.4(BLM):c.1358T>C (p.Leu453Ser)
|
|
|
|
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)
|
rs730881428
|
|
|
NM_000057.4(BLM):c.135C>T (p.Asn45=)
|
rs2151146713
|
|
|
NM_000057.4(BLM):c.1360A>C (p.Asn454His)
|
|
|
|
NM_000057.4(BLM):c.1361A>G (p.Asn454Ser)
|
rs1895953927
|
|
|
NM_000057.4(BLM):c.1361del (p.Asn454fs)
|
rs2151158091
|
|
|
NM_000057.4(BLM):c.1362T>C (p.Asn454=)
|
rs1156488243
|
|
|
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
|
|
|
|
NM_000057.4(BLM):c.1365T>C (p.Phe455=)
|
|
|
|
NM_000057.4(BLM):c.1367C>T (p.Ser456Leu)
|
|
|
|
NM_000057.4(BLM):c.1368A>T (p.Ser456=)
|
|
|
|
NM_000057.4(BLM):c.1369C>T (p.His457Tyr)
|
rs1895954255
|
|
|
NM_000057.4(BLM):c.1370A>C (p.His457Pro)
|
|
|
|
NM_000057.4(BLM):c.1370A>G (p.His457Arg)
|
rs2151158103
|
|
|
NM_000057.4(BLM):c.1371C>T (p.His457=)
|
|
|
|
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe)
|
|
|
|
NM_000057.4(BLM):c.1374T>G (p.Leu458=)
|
rs753456624
|
|
|
NM_000057.4(BLM):c.1374del (p.Ser460fs)
|
|
|
|
NM_000057.4(BLM):c.1376C>A (p.Pro459His)
|
rs1302320494
|
|
|
NM_000057.4(BLM):c.1383T>C (p.Asn461=)
|
rs2151158124
|
|
|
NM_000057.4(BLM):c.1388T>G (p.Val463Gly)
|
rs1555419857
|
|
|
NM_000057.4(BLM):c.138T>C (p.Asn46=)
|
rs1895600929
|
|
|
NM_000057.4(BLM):c.138T>G (p.Asn46Lys)
|
rs1895600929
|
|
|
NM_000057.4(BLM):c.1391C>T (p.Ser464Phe)
|
rs1303724070
|
|
|
NM_000057.4(BLM):c.1392T>C (p.Ser464=)
|
rs2151158131
|
|
|
NM_000057.4(BLM):c.1394C>A (p.Pro465His)
|
rs561545349
|
|
|
NM_000057.4(BLM):c.1395T>C (p.Pro465=)
|
|
|
|
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu)
|
rs1567041006
|
|
|
NM_000057.4(BLM):c.1398G>A (p.Gly466=)
|
rs1596229756
|
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
|
NM_000057.4(BLM):c.13C>T (p.Pro5Ser)
|
rs760982604
|
|
|
NM_000057.4(BLM):c.1404T>C (p.Cys468=)
|
rs1236929438
|
|
|
NM_000057.4(BLM):c.1404T>G (p.Cys468Trp)
|
rs1236929438
|
|
|
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs)
|
rs2151158165
|
|
|
NM_000057.4(BLM):c.1411A>G (p.Thr471Ala)
|
rs2151158175
|
|
|
NM_000057.4(BLM):c.1416C>A (p.Thr472=)
|
|
|
|
NM_000057.4(BLM):c.1419C>G (p.Thr473=)
|
rs200051680
|
|
|
NM_000057.4(BLM):c.141A>C (p.Val47=)
|
|
|
|
NM_000057.4(BLM):c.1421T>C (p.Leu474Pro)
|
|
|
|
NM_000057.4(BLM):c.1425A>G (p.Gly475=)
|
|
|
|
NM_000057.4(BLM):c.1427A>G (p.Lys476Arg)
|
rs2151158198
|
|
|
NM_000057.4(BLM):c.1427del (p.Lys476fs)
|
|
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
|
NM_000057.4(BLM):c.142T>A (p.Ser48Thr)
|
rs1895601138
|
|
|
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile)
|
rs1567041041
|
|
|
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
|
|
|
|
NM_000057.4(BLM):c.1432G>C (p.Gly478Arg)
|
rs1490929990
|
|
|
NM_000057.4(BLM):c.1433G>T (p.Gly478Val)
|
|
|
|
NM_000057.4(BLM):c.1436T>A (p.Phe479Tyr)
|
rs1418071613
|
|
|
NM_000057.4(BLM):c.1437C>G (p.Phe479Leu)
|
rs1567041060
|
|
|
NM_000057.4(BLM):c.1437C>T (p.Phe479=)
|
|
|
|
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro)
|
rs1555419877
|
|
|
NM_000057.4(BLM):c.1439C>T (p.Ser480Phe)
|
rs2151158229
|
|
|
NM_000057.4(BLM):c.1440dup (p.Ala481fs)
|
rs1596229894
|
|
|
NM_000057.4(BLM):c.1441G>A (p.Ala481Thr)
|
|
|
|
NM_000057.4(BLM):c.1444A>C (p.Thr482Pro)
|
|
|
|
NM_000057.4(BLM):c.1445C>A (p.Thr482Asn)
|
|
|
|
NM_000057.4(BLM):c.1446C>T (p.Thr482=)
|
rs2151158251
|
|
|
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys)
|
|
|
|
NM_000057.4(BLM):c.1449G>A (p.Arg483=)
|
rs1596229906
|
|
|
NM_000057.4(BLM):c.1449G>C (p.Arg483Ser)
|
|
|
|
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
|
|
|
|
NM_000057.4(BLM):c.1455T>G (p.Asn485Lys)
|
rs2151158261
|
|
|
NM_000057.4(BLM):c.145G>A (p.Val49Ile)
|
rs558379347
|
|
|
NM_000057.4(BLM):c.1460T>C (p.Phe487Ser)
|
rs992038495
|
|
|
NM_000057.4(BLM):c.1461T>C (p.Phe487=)
|
|
|
|
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys)
|
rs1477193473
|
|
|
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)
|
rs1477193473
|
|
|
NM_000057.4(BLM):c.1468C>T (p.Pro490Ser)
|
rs1567041087
|
|
|
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)
|
rs878853553
|
|
|
NM_000057.4(BLM):c.146T>C (p.Val49Ala)
|
rs1895601341
|
|
|
NM_000057.4(BLM):c.1470T>C (p.Pro490=)
|
|
|
|
NM_000057.4(BLM):c.1473A>G (p.Leu491=)
|
|
|
|
NM_000057.4(BLM):c.1476C>G (p.Phe492Leu)
|
|
|
|
NM_000057.4(BLM):c.1476_1487del (p.Phe492_His495del)
|
rs1895959648
|
|
|
NM_000057.4(BLM):c.1479T>C (p.Asn493=)
|
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
|
NM_000057.4(BLM):c.147A>C (p.Val49=)
|
|
|
|
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile)
|
rs751600686
|
|
|
NM_000057.4(BLM):c.1482C>T (p.Thr494=)
|
rs1596229985
|
|
|
NM_000057.4(BLM):c.1484A>G (p.His495Arg)
|
rs2151158309
|
|
|
NM_000057.4(BLM):c.1485T>C (p.His495=)
|
rs2151158313
|
|
|
NM_000057.4(BLM):c.1487del (p.Leu496fs)
|
rs2151158316
|
|
|
NM_000057.4(BLM):c.1488A>G (p.Leu496=)
|
|
|
|
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter)
|
rs2151158321
|
|
|
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)
|
rs368547042
|
|
|
NM_000057.4(BLM):c.1491G>T (p.Gln497His)
|
|
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
|
NM_000057.4(BLM):c.1494G>A (p.Lys498=)
|
|
|
|
NM_000057.4(BLM):c.1497C>A (p.Ser499=)
|
rs540772424
|
|
|
NM_000057.4(BLM):c.1500T>C (p.Phe500=)
|
|
|
|
NM_000057.4(BLM):c.1501G>A (p.Val501Ile)
|
rs1596230032
|
|
|
NM_000057.4(BLM):c.1505G>A (p.Ser502Asn)
|
|
|
|
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr)
|
rs908599703
|
|
|
NM_000057.4(BLM):c.1508G>A (p.Ser503Asn)
|
rs1352036324
|
|
|
NM_000057.4(BLM):c.1510A>C (p.Asn504His)
|
|
|
|
NM_000057.4(BLM):c.1515G>T (p.Trp505Cys)
|
rs1286401716
|
|
|
NM_000057.4(BLM):c.1525C>A (p.Pro509Thr)
|
|
|
|
NM_000057.4(BLM):c.1526C>T (p.Pro509Leu)
|
rs1457782246
|
|
|
NM_000057.4(BLM):c.1530A>T (p.Arg510Ser)
|
|
|
|
NM_000057.4(BLM):c.1532T>A (p.Leu511Gln)
|
rs1446287900
|
|
|
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg)
|
rs1446287900
|
|
|
NM_000057.4(BLM):c.1533A>C (p.Leu511=)
|
|
|
|
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
|
|
|
|
NM_000057.4(BLM):c.153T>C (p.Asn51=)
|
|
|
|
NM_000057.4(BLM):c.1541A>T (p.Lys514Ile)
|
rs550463714
|
|
|
NM_000057.4(BLM):c.1542A>C (p.Lys514Asn)
|
|
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1546G>A (p.Glu516Lys)
|
|
|
|
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)
|
rs1596230118
|
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
|
NM_000057.4(BLM):c.154G>A (p.Val52Met)
|
rs2151146745
|
|
|
NM_000057.4(BLM):c.1550G>C (p.Ser517Thr)
|
rs2151158461
|
|
|
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro)
|
rs1596230139
|
|
|
NM_000057.4(BLM):c.1553C>T (p.Ser518Phe)
|
rs1596230143
|
|
|
NM_000057.4(BLM):c.1554T>A (p.Ser518=)
|
rs2151158475
|
|
|
NM_000057.4(BLM):c.1555T>G (p.Tyr519Asp)
|
rs1895964366
|
|
|
NM_000057.4(BLM):c.1557T>C (p.Tyr519=)
|
|
|
|
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser)
|
rs1410283592
|
|
|
NM_000057.4(BLM):c.1560C>T (p.Phe520=)
|
rs2151158484
|
|
|
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser)
|
rs1451973495
|
|
|
NM_000057.4(BLM):c.1563A>C (p.Pro521=)
|
|
|
|
NM_000057.4(BLM):c.1564G>A (p.Gly522Arg)
|
rs1895965135
|
|
|
NM_000057.4(BLM):c.1565del (p.Gly522fs)
|
rs1895965271
|
|
|
NM_000057.4(BLM):c.156G>A (p.Val52=)
|
|
|
|
NM_000057.4(BLM):c.156G>T (p.Val52=)
|
rs2151146748
|
|
|
NM_000057.4(BLM):c.1573C>G (p.Leu525Val)
|
rs2151158518
|
|
|
NM_000057.4(BLM):c.1579A>C (p.Ser527Arg)
|
|
|
|
NM_000057.4(BLM):c.157T>A (p.Ser53Thr)
|
rs1555418248
|
|
|
NM_000057.4(BLM):c.1582_1583insTTG (p.Thr528delinsIleAla)
|
|
|
|
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile)
|
rs1596230185
|
|
|
NM_000057.4(BLM):c.1584T>G (p.Thr528=)
|
rs766369993
|
|
|
NM_000057.4(BLM):c.1585G>A (p.Ala529Thr)
|
|
|
|
NM_000057.4(BLM):c.1589T>C (p.Val530Ala)
|
rs2151158554
|
|
|
NM_000057.4(BLM):c.1590G>A (p.Val530=)
|
|
|
|
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr)
|
rs1895966276
|
|
|
NM_000057.4(BLM):c.1593A>T (p.Lys531Asn)
|
rs1239709333
|
|
|
NM_000057.4(BLM):c.1594G>A (p.Asp532Asn)
|
|
|
|
NM_000057.4(BLM):c.1594G>C (p.Asp532His)
|
rs753723424
|
|
|
NM_000057.4(BLM):c.1595A>G (p.Asp532Gly)
|
rs1895966610
|
|
|
NM_000057.4(BLM):c.1596_1598del (p.Asp532_Gln533delinsGlu)
|
rs1895966710
|
|
|
NM_000057.4(BLM):c.1599G>A (p.Gln533=)
|
rs2151158575
|
|
|
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
|
|
|
|
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn)
|
rs1555419928
|
|
|
NM_000057.4(BLM):c.1611T>C (p.Thr537=)
|
rs1895967311
|
|
|
NM_000057.4(BLM):c.1612G>A (p.Ala538Thr)
|
rs1318049766
|
|
|
NM_000057.4(BLM):c.1618A>G (p.Ile540Val)
|
rs1060500641
|
|
|
NM_000057.4(BLM):c.1619T>A (p.Ile540Lys)
|
rs1596230232
|
|
|
NM_000057.4(BLM):c.1620A>G (p.Ile540Met)
|
rs1596230234
|
|
|
NM_000057.4(BLM):c.1622A>G (p.Asn541Ser)
|
rs1240946873
|
|
|
NM_000057.4(BLM):c.1622del (p.Asn541fs)
|
|
|
|
NM_000057.4(BLM):c.1624G>A (p.Asp542Asn)
|
|
|
|
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr)
|
rs1555419932
|
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
|
NM_000057.4(BLM):c.1626C>A (p.Asp542Glu)
|
rs1895968518
|
|
|
NM_000057.4(BLM):c.1626C>T (p.Asp542=)
|
rs1895968518
|
|
|
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter)
|
rs367543038
|
|
|
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly)
|
rs1567041307
|
|
|
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
|
rs1205301894
|
|
|
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly)
|
rs1596230280
|
|
|
NM_000057.4(BLM):c.1634G>A (p.Arg545Lys)
|
|
|
|
NM_000057.4(BLM):c.1641C>G (p.Thr547=)
|
|
|
|
NM_000057.4(BLM):c.1641C>T (p.Thr547=)
|
rs2151158651
|
|
|
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer)
|
rs2151158659
|
|
|
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151158629
|
|
|
NM_000057.4(BLM):c.1644A>G (p.Gln548=)
|
|
|
|
NM_000057.4(BLM):c.1647T>C (p.Pro549=)
|
|
|
|
NM_000057.4(BLM):c.164C>G (p.Ala55Gly)
|
rs1895601835
|
|
|
NM_000057.4(BLM):c.164C>T (p.Ala55Val)
|
rs1895601835
|
|
|
NM_000057.4(BLM):c.1653T>C (p.Tyr551=)
|
|
|
|
NM_000057.4(BLM):c.1657A>G (p.Ile553Val)
|
rs778873363
|
|
|
NM_000057.4(BLM):c.1660G>A (p.Asp554Asn)
|
rs2151158694
|
|
|
NM_000057.4(BLM):c.1672A>G (p.Ile558Val)
|
|
|
|
NM_000057.4(BLM):c.1673T>C (p.Ile558Thr)
|
rs1469407831
|
|
|
NM_000057.4(BLM):c.1674A>C (p.Ile558=)
|
|
|
|
NM_000057.4(BLM):c.1675_1676delinsTT (p.Asp559Phe)
|
rs2151158719
|
|
|
NM_000057.4(BLM):c.1676A>G (p.Asp559Gly)
|
rs1596230337
|
|
|
NM_000057.4(BLM):c.1676A>T (p.Asp559Val)
|
rs1596230337
|
|
|
NM_000057.4(BLM):c.1678G>A (p.Asp560Asn)
|
rs746386524
|
|
|
NM_000057.4(BLM):c.1678G>C (p.Asp560His)
|
rs746386524
|
|
|
NM_000057.4(BLM):c.1679A>C (p.Asp560Ala)
|
|
|
|
NM_000057.4(BLM):c.1680_1691del (p.Phe561_Asp564del)
|
|
|
|
NM_000057.4(BLM):c.1681_1682delinsGA (p.Phe561Asp)
|
rs1895970884
|
|
|
NM_000057.4(BLM):c.1683T>C (p.Phe561=)
|
|
|
|
NM_000057.4(BLM):c.1683TGA[4] (p.Asp566del)
|
rs768095141
|
|
|
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup)
|
rs768095141
|
|
|
NM_000057.4(BLM):c.1685A>T (p.Asp562Val)
|
rs2151158749
|
|
|
NM_000057.4(BLM):c.1686T>A (p.Asp562Glu)
|
rs1895971165
|
|
|
NM_000057.4(BLM):c.1686T>C (p.Asp562=)
|
|
|
|
NM_000057.4(BLM):c.1688A>T (p.Asp563Val)
|
rs1288457938
|
|
|
NM_000057.4(BLM):c.1689T>C (p.Asp563=)
|
|
|
|
NM_000057.4(BLM):c.1690G>A (p.Asp564Asn)
|
|
|
|
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly)
|
rs1555419944
|
|
|
NM_000057.4(BLM):c.1691A>T (p.Asp564Val)
|
rs1555419944
|
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
|
NM_000057.4(BLM):c.1705G>A (p.Asp569Asn)
|
|
|
|
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly)
|
rs1895971955
|
|
|
NM_000057.4(BLM):c.1707C>T (p.Asp569=)
|
rs1596230402
|
|
|
NM_000057.4(BLM):c.1708A>C (p.Ile570Leu)
|
rs775758928
|
|
|
NM_000057.4(BLM):c.1708A>G (p.Ile570Val)
|
rs775758928
|
|
|
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr)
|
rs1567041376
|
|
|
NM_000057.4(BLM):c.1712T>C (p.Met571Thr)
|
rs587778109
|
|
|
NM_000057.4(BLM):c.1715A>C (p.His572Pro)
|
rs763355238
|
|
|
NM_000057.4(BLM):c.1715A>G (p.His572Arg)
|
rs763355238
|
|
|
NM_000057.4(BLM):c.1717A>C (p.Asn573His)
|
|
|
|
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys)
|
rs1895973169
|
|
|
NM_000057.4(BLM):c.171A>T (p.Thr57=)
|
|
|
|
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)
|
rs1057516361
|
|
|
NM_000057.4(BLM):c.1725A>G (p.Ala575=)
|
rs2151158860
|
|
|
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr)
|
|
|
|
NM_000057.4(BLM):c.1729A>C (p.Ser577Arg)
|
rs761955701
|
|
|
NM_000057.4(BLM):c.172C>A (p.Pro58Thr)
|
rs1596217837
|
|
|
NM_000057.4(BLM):c.172C>T (p.Pro58Ser)
|
rs1596217837
|
|
|
NM_000057.4(BLM):c.1730G>A (p.Ser577Asn)
|
rs1567041417
|
|
|
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter)
|
rs2151158869
|
|
|
NM_000057.4(BLM):c.1733A>C (p.Lys578Thr)
|
rs2151158873
|
|
|
NM_000057.4(BLM):c.1733A>G (p.Lys578Arg)
|
|
|
|
NM_000057.4(BLM):c.1734A>C (p.Lys578Asn)
|
rs1895974192
|
|
|
NM_000057.4(BLM):c.1734A>G (p.Lys578=)
|
|
|
|
NM_000057.4(BLM):c.1734A>T (p.Lys578Asn)
|
|
|
|
NM_000057.4(BLM):c.1737T>G (p.Ser579=)
|
rs2151158878
|
|
|
NM_000057.4(BLM):c.1739C>T (p.Ser580Phe)
|
|
|
|
NM_000057.4(BLM):c.1744G>C (p.Ala582Pro)
|
|
|
|
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser)
|
rs1043484811
|
|
|
NM_000057.4(BLM):c.1748C>T (p.Ala583Val)
|
|
|
|
NM_000057.4(BLM):c.1749C>G (p.Ala583=)
|
rs369660800
|
|
|
NM_000057.4(BLM):c.1749C>T (p.Ala583=)
|
rs369660800
|
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
|
NM_000057.4(BLM):c.1753C>A (p.Gln585Lys)
|
|
|
|
NM_000057.4(BLM):c.1756C>T (p.Pro586Ser)
|
rs1895975290
|
|
|
NM_000057.4(BLM):c.1761C>G (p.Ile587Met)
|
rs2151158924
|
|
|
NM_000057.4(BLM):c.1763del (p.Lys588fs)
|
|
|
|
NM_000057.4(BLM):c.1764G>A (p.Lys588=)
|
rs1596230518
|
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
|
NM_000057.4(BLM):c.1765del (p.Glu589fs)
|
|
|
|
NM_000057.4(BLM):c.1767A>G (p.Glu589=)
|
rs2151158940
|
|
|
NM_000057.4(BLM):c.1770T>C (p.Gly590=)
|
|
|
|
NM_000057.4(BLM):c.1770_1772dup (p.Arg591_Pro592insArg)
|
|
|
|
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
|
|
|
|
NM_000057.4(BLM):c.1773G>A (p.Arg591=)
|
rs1161912678
|
|
|
NM_000057.4(BLM):c.1781A>T (p.Lys594Ile)
|
rs2151158958
|
|
|
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)
|
rs138943954
|
|
|
NM_000057.4(BLM):c.1786G>A (p.Val596Ile)
|
rs1596230556
|
|
|
NM_000057.4(BLM):c.1788A>G (p.Val596=)
|
rs1555419972
|
|
|
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs)
|
rs2151158979
|
|
|
NM_000057.4(BLM):c.1796G>C (p.Arg599Thr)
|
|
|
|
NM_000057.4(BLM):c.1798C>T (p.Leu600Phe)
|
rs1466022684
|
|
|
NM_000057.4(BLM):c.17A>C (p.Gln6Pro)
|
rs1248128883
|
|
|
NM_000057.4(BLM):c.1802C>A (p.Ser601Tyr)
|
rs751951251
|
|
|
NM_000057.4(BLM):c.1802C>G (p.Ser601Cys)
|
rs751951251
|
|
|
NM_000057.4(BLM):c.1802C>T (p.Ser601Phe)
|
rs751951251
|
|
|
NM_000057.4(BLM):c.1803C>T (p.Ser601=)
|
|
|
|
NM_000057.4(BLM):c.1804T>G (p.Ser602Ala)
|
rs1895977282
|
|
|
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
|
|
|
|
NM_000057.4(BLM):c.1805C>T (p.Ser602Leu)
|
rs2151159026
|
|
|
NM_000057.4(BLM):c.1806A>G (p.Ser602=)
|
|
|
|
NM_000057.4(BLM):c.1808C>A (p.Ala603Asp)
|
rs1567041486
|
|
|
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly)
|
rs1567041486
|
|
|
NM_000057.4(BLM):c.1809C>G (p.Ala603=)
|
rs1596230587
|
|
|
NM_000057.4(BLM):c.1810A>G (p.Lys604Glu)
|
|
|
|
NM_000057.4(BLM):c.1812G>A (p.Lys604=)
|
|
|
|
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
|
|
|
|
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
|
|
|
|
NM_000057.4(BLM):c.1818C>G (p.Asp606Glu)
|
|
|
|
NM_000057.4(BLM):c.1818C>T (p.Asp606=)
|
rs1343649830
|
|
|
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)
|
|
|
|
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs)
|
rs2151159067
|
|
|
NM_000057.4(BLM):c.1825C>T (p.Pro609Ser)
|
|
|
|
NM_000057.4(BLM):c.1826C>T (p.Pro609Leu)
|
rs1895978264
|
|
|
NM_000057.4(BLM):c.1827A>G (p.Pro609=)
|
rs1035455107
|
|
|
NM_000057.4(BLM):c.1827A>T (p.Pro609=)
|
|
|
|
NM_000057.4(BLM):c.182G>T (p.Arg61Ile)
|
rs1060500644
|
|
|
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
|
|
|
|
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
|
|
|
|
NM_000057.4(BLM):c.1832C>T (p.Ser611Leu)
|
rs1895978539
|
|
|
NM_000057.4(BLM):c.1836T>C (p.Ser612=)
|
|
|
|
NM_000057.4(BLM):c.1837A>C (p.Thr613Pro)
|
|
|
|
NM_000057.4(BLM):c.1839T>C (p.Thr613=)
|
rs2151159114
|
|
|
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr)
|
rs1895978868
|
|
|
NM_000057.4(BLM):c.1840G>C (p.Ala614Pro)
|
|
|
|
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg)
|
rs1895978967
|
|
|
NM_000057.4(BLM):c.1845A>G (p.Gln615=)
|
|
|
|
NM_000057.4(BLM):c.1846A>T (p.Asn616Tyr)
|
rs1895979171
|
|
|
NM_000057.4(BLM):c.1849A>G (p.Ile617Val)
|
|
|
|
NM_000057.4(BLM):c.1850T>C (p.Ile617Thr)
|
rs868510206
|
|
|
NM_000057.4(BLM):c.1856_1858del (p.Phe619del)
|
rs1555419996
|
|
|
NM_000057.4(BLM):c.1857C>G (p.Phe619Leu)
|
|
|
|
NM_000057.4(BLM):c.1857C>T (p.Phe619=)
|
rs1218260888
|
|
|
NM_000057.4(BLM):c.1860A>C (p.Ser620=)
|
rs1286518338
|
|
|
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp)
|
rs374965438
|
|
|
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs)
|
rs2151159180
|
|
|
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
|
|
|
|
NM_000057.4(BLM):c.1866A>G (p.Ser622=)
|
rs2151159183
|
|
|
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr)
|
rs1567041556
|
|
|
NM_000057.4(BLM):c.186T>A (p.Asn62Lys)
|
rs146735953
|
|
|
NM_000057.4(BLM):c.1871A>G (p.Gln624Arg)
|
rs2151159195
|
|
|
NM_000057.4(BLM):c.1875T>C (p.Asn625=)
|
rs2151159204
|
|
|
NM_000057.4(BLM):c.1879A>G (p.Thr627Ala)
|
rs1895981084
|
|
|
NM_000057.4(BLM):c.1880C>T (p.Thr627Ile)
|
|
|
|
NM_000057.4(BLM):c.1882+15A>C
|
|
|
|
NM_000057.4(BLM):c.1882+15A>G
|
|
|
|
NM_000057.4(BLM):c.1882+17T>A
|
rs2151159231
|
|
|
NM_000057.4(BLM):c.1882+18T>C
|
|
|
|
NM_000057.4(BLM):c.1882+19G>A
|
|
|
|
NM_000057.4(BLM):c.1882+1G>C
|
rs757841012
|
|
|
NM_000057.4(BLM):c.1882+2T>C
|
|
|
|
NM_000057.4(BLM):c.1882G>A (p.Asp628Asn)
|
|
|
|
NM_000057.4(BLM):c.1883-10A>G
|
|
|
|
NM_000057.4(BLM):c.1883-11T>A
|
rs2151160467
|
|
|
NM_000057.4(BLM):c.1883-14G>A
|
rs1459105649
|
|
|
NM_000057.4(BLM):c.1883-14G>T
|
|
|
|
NM_000057.4(BLM):c.1883-14_1883-11del
|
|
|
|
NM_000057.4(BLM):c.1883-18C>T
|
rs755428003
|
|
|
NM_000057.4(BLM):c.1883-19A>G
|
|
|
|
NM_000057.4(BLM):c.1883-1G>A
|
rs772230310
|
|
|
NM_000057.4(BLM):c.1883-6T>C
|
rs1596232042
|
|
|
NM_000057.4(BLM):c.1883-7T>C
|
rs1384842732
|
|
|
NM_000057.4(BLM):c.1883-8T>G
|
|
|
|
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr)
|
rs1567042153
|
|
|
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro)
|
rs1567042153
|
|
|
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)
|
rs2151160492
|
|
|
NM_000057.4(BLM):c.1891G>C (p.Ala631Pro)
|
|
|
|
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys)
|
rs746857727
|
|
|
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
|
|
|
|
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro)
|
rs1896025240
|
|
|
NM_000057.4(BLM):c.18A>G (p.Gln6=)
|
rs372771577
|
|
|
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys)
|
rs1596232081
|
|
|
NM_000057.4(BLM):c.1908C>A (p.Ser636=)
|
|
|
|
NM_000057.4(BLM):c.1908C>T (p.Ser636=)
|
rs1409930066
|
|
|
NM_000057.4(BLM):c.1909A>G (p.Arg637Gly)
|
|
|
|
NM_000057.4(BLM):c.190G>C (p.Asp64His)
|
rs1895602796
|
|
|
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser)
|
rs587778110
|
|
|
NM_000057.4(BLM):c.1915C>A (p.Leu639Met)
|
|
|
|
NM_000057.4(BLM):c.1917G>A (p.Leu639=)
|
rs771059822
|
|
|
NM_000057.4(BLM):c.1918A>G (p.Lys640Glu)
|
|
|
|
NM_000057.4(BLM):c.191A>C (p.Asp64Ala)
|
rs140382474
|
|
|
NM_000057.4(BLM):c.1921del (p.His641fs)
|
|
|
|
NM_000057.4(BLM):c.1922A>T (p.His641Leu)
|
rs2151160545
|
|
|
NM_000057.4(BLM):c.1927C>A (p.Arg643Ser)
|
rs373090621
|
|
|
NM_000057.4(BLM):c.1928G>T (p.Arg643Leu)
|
|
|
|
NM_000057.4(BLM):c.1928del (p.Arg643fs)
|
rs2151160567
|
|
|
NM_000057.4(BLM):c.1929T>C (p.Arg643=)
|
|
|
|
NM_000057.4(BLM):c.192T>C (p.Asp64=)
|
rs2151146805
|
|
|
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)
|
rs377563699
|
|
|
NM_000057.4(BLM):c.1934A>T (p.Gln645Leu)
|
rs377563699
|
|
|
NM_000057.4(BLM):c.1937G>C (p.Ser646Thr)
|
|
|
|
NM_000057.4(BLM):c.1939C>G (p.Leu647Val)
|
rs1896027269
|
|
|
NM_000057.4(BLM):c.1939C>T (p.Leu647Phe)
|
rs1896027269
|
|
|
NM_000057.4(BLM):c.193G>A (p.Val65Ile)
|
rs1895603124
|
|
|
NM_000057.4(BLM):c.1940T>C (p.Leu647Pro)
|
rs1555420162
|
|
|
NM_000057.4(BLM):c.1949C>T (p.Pro650Leu)
|
rs2151160613
|
|
|
NM_000057.4(BLM):c.1953T>C (p.His651=)
|
rs755517718
|
|
|
NM_000057.4(BLM):c.1956A>C (p.Thr652=)
|
rs1567042229
|
|
|
NM_000057.4(BLM):c.1956A>G (p.Thr652=)
|
rs1567042229
|
|
|
NM_000057.4(BLM):c.1958A>C (p.Lys653Thr)
|
rs1896028357
|
|
|
NM_000057.4(BLM):c.1958A>T (p.Lys653Met)
|
rs1896028357
|
|
|
NM_000057.4(BLM):c.1959G>A (p.Lys653=)
|
|
|
|
NM_000057.4(BLM):c.1965G>C (p.Met655Ile)
|
rs369777747
|
|
|
NM_000057.4(BLM):c.1966A>G (p.Met656Val)
|
rs2151160648
|
|
|
NM_000057.4(BLM):c.196A>G (p.Asn66Asp)
|
|
|
|
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
|
|
|
|
NM_000057.4(BLM):c.1970A>T (p.Lys657Met)
|
rs1896029053
|
|
|
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr)
|
rs187379039
|
|
|
NM_000057.4(BLM):c.1977T>C (p.Phe659=)
|
rs1596232235
|
|
|
NM_000057.4(BLM):c.1977del (p.His660fs)
|
|
|
|
NM_000057.4(BLM):c.1979A>G (p.His660Arg)
|
rs1896029572
|
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
|
NM_000057.4(BLM):c.1986A>G (p.Lys662=)
|
|
|
|
NM_000057.4(BLM):c.1987T>A (p.Phe663Ile)
|
|
|
|
NM_000057.4(BLM):c.198T>C (p.Asn66=)
|
rs1410899563
|
|
|
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
|
|
|
|
NM_000057.4(BLM):c.1992C>G (p.Gly664=)
|
rs886043359
|
|
|
NM_000057.4(BLM):c.1993C>T (p.Leu665=)
|
rs2151160690
|
|
|
NM_000057.4(BLM):c.1995G>A (p.Leu665=)
|
|
|
|
NM_000057.4(BLM):c.1995G>C (p.Leu665=)
|
rs2151160697
|
|
|
NM_000057.4(BLM):c.1995G>T (p.Leu665=)
|
|
|
|
NM_000057.4(BLM):c.199G>A (p.Val67Ile)
|
rs991350762
|
|
|
NM_000057.4(BLM):c.1A>G (p.Met1Val)
|
|
|
|
NM_000057.4(BLM):c.2004T>C (p.Phe668=)
|
|
|
|
NM_000057.4(BLM):c.2016G>A (p.Gln672=)
|
rs986590937
|
|
|
NM_000057.4(BLM):c.2016G>C (p.Gln672His)
|
|
|
|
NM_000057.4(BLM):c.2019A>G (p.Leu673=)
|
rs2151160712
|
|
|
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
|
|
|
|
NM_000057.4(BLM):c.2022G>A (p.Glu674=)
|
rs1596232275
|
|
|
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)
|
|
|
|
NM_000057.4(BLM):c.2028C>T (p.Ile676=)
|
rs2151160730
|
|
|
NM_000057.4(BLM):c.2031T>C (p.Asn677=)
|
|
|
|
NM_000057.4(BLM):c.2032G>T (p.Ala678Ser)
|
|
|
|
NM_000057.4(BLM):c.2034T>C (p.Ala678=)
|
rs2151160740
|
|
|
NM_000057.4(BLM):c.2035G>A (p.Ala679Thr)
|
rs1896031109
|
|
|
NM_000057.4(BLM):c.2037A>C (p.Ala679=)
|
|
|
|
NM_000057.4(BLM):c.2043T>C (p.Leu681=)
|
rs2151160770
|
|
|
NM_000057.4(BLM):c.2046T>C (p.Gly682=)
|
|
|
|
NM_000057.4(BLM):c.2046T>G (p.Gly682=)
|
rs2151160778
|
|
|
NM_000057.4(BLM):c.204C>A (p.Thr68=)
|
rs199927688
|
|
|
NM_000057.4(BLM):c.204C>G (p.Thr68=)
|
rs199927688
|
|
|
NM_000057.4(BLM):c.2050G>A (p.Asp684Asn)
|
rs2151160786
|
|
|
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr)
|
rs1896032110
|
|
|
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)
|
|
|
|
NM_000057.4(BLM):c.2056T>C (p.Phe686Leu)
|
rs1896032220
|
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
|
NM_000057.4(BLM):c.2060T>C (p.Ile687Thr)
|
|
|
|
NM_000057.4(BLM):c.2061C>G (p.Ile687Met)
|
rs2151160806
|
|
|
NM_000057.4(BLM):c.2063T>C (p.Leu688Pro)
|
|
|
|
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu)
|
rs761589072
|
|
|
NM_000057.4(BLM):c.2070G>T (p.Pro690=)
|
rs148078150
|
|
|
NM_000057.4(BLM):c.2071A>T (p.Thr691Ser)
|
rs2151160830
|
|
|
NM_000057.4(BLM):c.2072C>T (p.Thr691Ile)
|
rs1896032772
|
|
|
NM_000057.4(BLM):c.2074+10T>C
|
|
|
|
NM_000057.4(BLM):c.2074+12dup
|
|
|
|
NM_000057.4(BLM):c.2074+13A>G
|
|
|
|
NM_000057.4(BLM):c.2074+14G>C
|
|
|
|
NM_000057.4(BLM):c.2074+17G>C
|
rs902634692
|
|
|
NM_000057.4(BLM):c.2074+18T>C
|
rs2151160869
|
|
|
NM_000057.4(BLM):c.2074+1G>T
|
rs367543036
|
|
|
NM_000057.4(BLM):c.2074+31_2074+32insATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAGAAAGAAAATAACATTCGTAACTTTGAGGAAACAGAATAAATAGGAGATTTATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGAATTGGCAGGAA
|
rs1567042315
|
|
|
NM_000057.4(BLM):c.2074+5G>A
|
rs587779880
|
|
|
NM_000057.4(BLM):c.2074+5_2074+8del
|
|
|
|
NM_000057.4(BLM):c.2074+7A>G
|
rs1279559326
|
|
|
NM_000057.4(BLM):c.2074+9T>A
|
rs2151160844
|
|
|
NM_000057.4(BLM):c.2075-14T>G
|
|
|
|
NM_000057.4(BLM):c.2075-15A>C
|
|
|
|
NM_000057.4(BLM):c.2075-16del
|
|
|
|
NM_000057.4(BLM):c.2075-18T>G
|
rs2151162302
|
|
|
NM_000057.4(BLM):c.2075-3C>T
|
rs1896091271
|
|
|
NM_000057.4(BLM):c.2075-6T>G
|
|
|
|
NM_000057.4(BLM):c.2075-7C>T
|
|
|
|
NM_000057.4(BLM):c.2075-8T>C
|
|
|
|
NM_000057.4(BLM):c.2075-9C>G
|
rs1449433488
|
|
|
NM_000057.4(BLM):c.2076A>G (p.Gly692=)
|
|
|
|
NM_000057.4(BLM):c.2077G>A (p.Gly693Ser)
|
rs565078630
|
|
|
NM_000057.4(BLM):c.2078del (p.Gly693fs)
|
rs1896091563
|
|
|
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
|
|
|
|
NM_000057.4(BLM):c.2084A>G (p.Lys695Arg)
|
rs2151162329
|
|
|
NM_000057.4(BLM):c.2086A>G (p.Ser696Gly)
|
rs1896091802
|
|
|
NM_000057.4(BLM):c.2088T>C (p.Ser696=)
|
rs2151162337
|
|
|
NM_000057.4(BLM):c.208G>A (p.Asp70Asn)
|
rs769957028
|
|
|
NM_000057.4(BLM):c.2090T>C (p.Leu697Ser)
|
rs1896092004
|
|
|
NM_000057.4(BLM):c.2091G>A (p.Leu697=)
|
rs2151162344
|
|
|
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter)
|
rs753973474
|
|
|
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys)
|
|
|
|
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter)
|
rs1896092339
|
|
|
NM_000057.4(BLM):c.209A>G (p.Asp70Gly)
|
rs2151146849
|
|
|
NM_000057.4(BLM):c.2101C>A (p.Leu701Ile)
|
|
|
|
NM_000057.4(BLM):c.2102T>G (p.Leu701Arg)
|
rs759414733
|
|
|
NM_000057.4(BLM):c.2103C>A (p.Leu701=)
|
rs1596234139
|
|
|
NM_000057.4(BLM):c.2103C>T (p.Leu701=)
|
rs1596234139
|
|
|
NM_000057.4(BLM):c.2109C>A (p.Ala703=)
|
|
|
|
NM_000057.4(BLM):c.210C>T (p.Asp70=)
|
|
|
|
NM_000057.4(BLM):c.2110T>C (p.Cys704Arg)
|
|
|
|
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
|
|
|
|
NM_000057.4(BLM):c.2113G>C (p.Val705Leu)
|
rs767321886
|
|
|
NM_000057.4(BLM):c.2114T>A (p.Val705Asp)
|
rs1596234166
|
|
|
NM_000057.4(BLM):c.2115T>A (p.Val705=)
|
rs142787700
|
|
|
NM_000057.4(BLM):c.2117C>T (p.Ser706Phe)
|
rs1596234178
|
|
|
NM_000057.4(BLM):c.211T>A (p.Phe71Ile)
|
|
|
|
NM_000057.4(BLM):c.211T>C (p.Phe71Leu)
|
rs2151146855
|
|
|
NM_000057.4(BLM):c.2121T>C (p.Pro707=)
|
|
|
|
NM_000057.4(BLM):c.2122G>A (p.Gly708Arg)
|
rs1555420390
|
|
|
NM_000057.4(BLM):c.2122G>C (p.Gly708Arg)
|
rs1555420390
|
|
|
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu)
|
rs763559820
|
|
|
NM_000057.4(BLM):c.2127C>T (p.Val709=)
|
rs2151162440
|
|
|
NM_000057.4(BLM):c.2131G>A (p.Val711Ile)
|
rs2151162449
|
|
|
NM_000057.4(BLM):c.2131_2132del (p.Val711fs)
|
rs2151162445
|
|
|
NM_000057.4(BLM):c.2134_2136del (p.Val712del)
|
|
|
|
NM_000057.4(BLM):c.2137A>G (p.Ile713Val)
|
rs1896094984
|
|
|
NM_000057.4(BLM):c.2139T>G (p.Ile713Met)
|
rs1896095110
|
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
|
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
|
|
|
|
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser)
|
rs1060500636
|
|
|
NM_000057.4(BLM):c.2148G>A (p.Leu716=)
|
rs2151162471
|
|
|
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr)
|
rs28406486
|
|
|
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe)
|
rs587779881
|
|
|
NM_000057.4(BLM):c.2159T>C (p.Ile720Thr)
|
|
|
|
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs)
|
rs2151162486
|
|
|
NM_000057.4(BLM):c.2163A>G (p.Val721=)
|
|
|
|
NM_000057.4(BLM):c.2165A>G (p.Asp722Gly)
|
rs1896096525
|
|
|
NM_000057.4(BLM):c.2167C>G (p.Gln723Glu)
|
rs2151162501
|
|
|
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter)
|
rs2151162501
|
|
|
NM_000057.4(BLM):c.2170G>A (p.Val724Ile)
|
rs1896096762
|
|
|
NM_000057.4(BLM):c.2171T>G (p.Val724Gly)
|
|
|
|
NM_000057.4(BLM):c.2172C>T (p.Val724=)
|
rs2151162509
|
|
|
NM_000057.4(BLM):c.2181G>T (p.Leu727=)
|
rs2151162511
|
|
|
NM_000057.4(BLM):c.2183C>A (p.Thr728Asn)
|
rs1567043208
|
|
|
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser)
|
rs1567043208
|
|
|
NM_000057.4(BLM):c.2185T>G (p.Ser729Ala)
|
rs2151162523
|
|
|
NM_000057.4(BLM):c.2186C>T (p.Ser729Phe)
|
|
|
|
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs)
|
|
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
|
NM_000057.4(BLM):c.2188T>C (p.Leu730=)
|
rs2151162528
|
|
|
NM_000057.4(BLM):c.2191G>A (p.Asp731Asn)
|
rs1459619445
|
|
|
NM_000057.4(BLM):c.2193+15T>C
|
|
|
|
NM_000057.4(BLM):c.2193+16A>C
|
rs1567043236
|
|
|
NM_000057.4(BLM):c.2193+16A>G
|
|
|
|
NM_000057.4(BLM):c.2193+17C>A
|
|
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
|
NM_000057.4(BLM):c.2193+5G>C
|
|
|
|
NM_000057.4(BLM):c.2193+8A>G
|
rs2151162549
|
|
|
NM_000057.4(BLM):c.2194-12T>A
|
|
|
|
NM_000057.4(BLM):c.2194-13C>A
|
|
|
|
NM_000057.4(BLM):c.2194-16C>A
|
|
|
|
NM_000057.4(BLM):c.2194-16C>T
|
|
|
|
NM_000057.4(BLM):c.2194-17A>G
|
rs755003821
|
|
|
NM_000057.4(BLM):c.2194-7T>C
|
|
|
|
NM_000057.4(BLM):c.2194-8A>C
|
|
|
|
NM_000057.4(BLM):c.2194-8A>G
|
rs1896143206
|
|
|
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe)
|
rs1555420546
|
|
|
NM_000057.4(BLM):c.2197C>T (p.Pro733Ser)
|
|
|
|
NM_000057.4(BLM):c.2199A>G (p.Pro733=)
|
|
|
|
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr)
|
rs1301298294
|
|
|
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser)
|
rs1301298294
|
|
|
NM_000057.4(BLM):c.2204C>T (p.Thr735Ile)
|
rs1596235743
|
|
|
NM_000057.4(BLM):c.2205A>G (p.Thr735=)
|
rs757134420
|
|
|
NM_000057.4(BLM):c.2205A>T (p.Thr735=)
|
rs757134420
|
|
|
NM_000057.4(BLM):c.2206T>C (p.Tyr736His)
|
rs2151163786
|
|
|
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs)
|
rs2151163791
|
|
|
NM_000057.4(BLM):c.2206dup (p.Tyr736fs)
|
rs886051551
|
|
|
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
|
|
|
|
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer)
|
rs1596235791
|
|
|
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
|
|
|
|
NM_000057.4(BLM):c.2209C>T (p.Leu737=)
|
rs901867383
|
|
|
NM_000057.4(BLM):c.220A>G (p.Ser74Gly)
|
rs1895604535
|
|
|
NM_000057.4(BLM):c.2211G>T (p.Leu737=)
|
rs933356579
|
|
|
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala)
|
rs1050741211
|
|
|
NM_000057.4(BLM):c.2213C>T (p.Thr738Ile)
|
|
|
|
NM_000057.4(BLM):c.2214A>G (p.Thr738=)
|
|
|
|
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser)
|
rs745642690
|
|
|
NM_000057.4(BLM):c.2217T>C (p.Gly739=)
|
|
|
|
NM_000057.4(BLM):c.2217T>G (p.Gly739=)
|
rs1217701232
|
|
|
NM_000057.4(BLM):c.221G>T (p.Ser74Ile)
|
|
|
|
NM_000057.4(BLM):c.2220T>C (p.Asp740=)
|
rs2151163848
|
|
|
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)
|
rs1896146578
|
|
|
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser)
|
rs1596235858
|
|
|
NM_000057.4(BLM):c.2225del (p.Thr742fs)
|
|
|
|
NM_000057.4(BLM):c.2226T>C (p.Thr742=)
|
rs2151163862
|
|
|
NM_000057.4(BLM):c.2229C>T (p.Asp743=)
|
rs889046632
|
|
|
NM_000057.4(BLM):c.222T>C (p.Ser74=)
|
rs2151146878
|
|
|
NM_000057.4(BLM):c.2232A>G (p.Ser744=)
|
|
|
|
NM_000057.4(BLM):c.2234A>G (p.Glu745Gly)
|
|
|
|
NM_000057.4(BLM):c.2235A>G (p.Glu745=)
|
rs1596235875
|
|
|
NM_000057.4(BLM):c.2236G>A (p.Ala746Thr)
|
rs1896147300
|
|
|
NM_000057.4(BLM):c.2239A>G (p.Thr747Ala)
|
|
|
|
NM_000057.4(BLM):c.223G>C (p.Glu75Gln)
|
rs1205667946
|
|
|
NM_000057.4(BLM):c.2240C>A (p.Thr747Lys)
|
|
|
|
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs)
|
|
|
|
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr)
|
|
|
|
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe)
|
rs1292127075
|
|
|
NM_000057.4(BLM):c.2253C>A (p.Leu751=)
|
rs2151163921
|
|
|
NM_000057.4(BLM):c.2253C>G (p.Leu751=)
|
rs2151163921
|
|
|
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys)
|
rs1424485988
|
|
|
NM_000057.4(BLM):c.2259A>G (p.Leu753=)
|
|
|
|
NM_000057.4(BLM):c.225A>G (p.Glu75=)
|
rs2151146880
|
|
|
NM_000057.4(BLM):c.2260T>C (p.Ser754Pro)
|
rs2151163946
|
|
|
NM_000057.4(BLM):c.2265A>G (p.Lys755=)
|
rs773864863
|
|
|
NM_000057.4(BLM):c.2268del (p.Asp757fs)
|
rs747341586
|
|
|
NM_000057.4(BLM):c.2269G>C (p.Asp757His)
|
rs2151163965
|
|
|
NM_000057.4(BLM):c.226C>T (p.Pro76Ser)
|
rs768843912
|
|
|
NM_000057.4(BLM):c.2271C>A (p.Asp757Glu)
|
|
|
|
NM_000057.4(BLM):c.2273C>T (p.Pro758Leu)
|
rs2151163980
|
|
|
NM_000057.4(BLM):c.2275A>G (p.Ile759Val)
|
|
|
|
NM_000057.4(BLM):c.2276T>C (p.Ile759Thr)
|
rs1056077835
|
|
|
NM_000057.4(BLM):c.2277C>A (p.Ile759=)
|
|
|
|
NM_000057.4(BLM):c.2278A>G (p.Ile760Val)
|
rs1896150112
|
|
|
NM_000057.4(BLM):c.2278A>T (p.Ile760Leu)
|
|
|
|
NM_000057.4(BLM):c.227del (p.Pro76fs)
|
rs1299272913
|
|
|
NM_000057.4(BLM):c.2280A>C (p.Ile760=)
|
rs1596236007
|
|
|
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs)
|
rs2151163995
|
|
|
NM_000057.4(BLM):c.2283A>T (p.Lys761Asn)
|
rs1896150452
|
|
|
NM_000057.4(BLM):c.2284del (p.Leu762fs)
|
rs2151164000
|
|
|
NM_000057.4(BLM):c.2287C>T (p.Leu763=)
|
rs896043726
|
|
|
NM_000057.4(BLM):c.2288T>A (p.Leu763Gln)
|
|
|
|
NM_000057.4(BLM):c.2289A>C (p.Leu763=)
|
rs1567044034
|
|
|
NM_000057.4(BLM):c.2289A>T (p.Leu763=)
|
|
|
|
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del)
|
rs1555418278
|
|
|
NM_000057.4(BLM):c.2291A>G (p.Tyr764Cys)
|
|
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
|
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)
|
rs2151164019
|
|
|
NM_000057.4(BLM):c.2298T>A (p.Thr766=)
|
rs2151164033
|
|
|
NM_000057.4(BLM):c.2298T>C (p.Thr766=)
|
|
|
|
NM_000057.4(BLM):c.229C>G (p.Leu77Val)
|
rs1555418283
|
|
|
NM_000057.4(BLM):c.2300C>T (p.Pro767Leu)
|
|
|
|
NM_000057.4(BLM):c.2301A>C (p.Pro767=)
|
|
|
|
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys)
|
rs1060500640
|
|
|
NM_000057.4(BLM):c.2307+15C>A
|
|
|
|
NM_000057.4(BLM):c.2307+16A>G
|
|
|
|
NM_000057.4(BLM):c.2307+1G>A
|
|
|
|
NM_000057.4(BLM):c.2307+1G>C
|
|
|
|
NM_000057.4(BLM):c.2307+23del
|
|
|
|
NM_000057.4(BLM):c.2307+2T>G
|
rs2151164052
|
|
|
NM_000057.4(BLM):c.2307+5G>A
|
rs1596236061
|
|
|
NM_000057.4(BLM):c.2307+5G>C
|
rs1596236061
|
|
|
NM_000057.4(BLM):c.2307+7A>G
|
|
|
|
NM_000057.4(BLM):c.2307G>A (p.Lys769=)
|
|
|
|
NM_000057.4(BLM):c.2308-12T>C
|
|
|
|
NM_000057.4(BLM):c.2308-15G>A
|
rs761194653
|
|
|
NM_000057.4(BLM):c.2308-17A>G
|
|
|
|
NM_000057.4(BLM):c.2308-20C>G
|
|
|
|
NM_000057.4(BLM):c.2308-2A>G
|
rs1248548542
|
|
|
NM_000057.4(BLM):c.2308-9C>T
|
rs771208627
|
|
|
NM_000057.4(BLM):c.230dup (p.Pro78fs)
|
|
|
|
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr)
|
rs1555420831
|
|
|
NM_000057.4(BLM):c.2312G>T (p.Cys771Phe)
|
|
|
|
NM_000057.4(BLM):c.2314G>A (p.Ala772Thr)
|
|
|
|
NM_000057.4(BLM):c.2316A>G (p.Ala772=)
|
rs752835659
|
|
|
NM_000057.4(BLM):c.2317A>G (p.Ser773Gly)
|
|
|
|
NM_000057.4(BLM):c.231A>C (p.Leu77=)
|
|
|
|
NM_000057.4(BLM):c.231A>G (p.Leu77=)
|
rs760696149
|
|
|
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
|
|
|
|
NM_000057.4(BLM):c.2326C>G (p.Leu776Val)
|
rs1483824560
|
|
|
NM_000057.4(BLM):c.2329A>G (p.Ile777Val)
|
rs764097842
|
|
|
NM_000057.4(BLM):c.232C>T (p.Pro78Ser)
|
|
|
|
NM_000057.4(BLM):c.2330T>C (p.Ile777Thr)
|
rs2151165699
|
|
|
NM_000057.4(BLM):c.2331T>G (p.Ile777Met)
|
|
|
|
NM_000057.4(BLM):c.2337T>C (p.Thr779=)
|
rs1896223602
|
|
|
NM_000057.4(BLM):c.233C>G (p.Pro78Arg)
|
rs2151146905
|
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
|
NM_000057.4(BLM):c.2344A>G (p.Asn782Asp)
|
|
|
|
NM_000057.4(BLM):c.2345A>G (p.Asn782Ser)
|
rs1896223925
|
|
|
NM_000057.4(BLM):c.2346T>C (p.Asn782=)
|
rs2151165716
|
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
|
NM_000057.4(BLM):c.234C>G (p.Pro78=)
|
rs970793829
|
|
|
NM_000057.4(BLM):c.234C>T (p.Pro78=)
|
rs970793829
|
|
|
NM_000057.4(BLM):c.2350T>C (p.Tyr784His)
|
|
|
|
NM_000057.4(BLM):c.2351A>T (p.Tyr784Phe)
|
|
|
|
NM_000057.4(BLM):c.2352T>C (p.Tyr784=)
|
|
|
|
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs)
|
rs1567045130
|
|
|
NM_000057.4(BLM):c.2358G>A (p.Arg786=)
|
|
|
|
NM_000057.4(BLM):c.2359A>G (p.Lys787Glu)
|
rs2151165751
|
|
|
NM_000057.4(BLM):c.2362C>G (p.Leu788Val)
|
rs149754073
|
|
|
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe)
|
rs149754073
|
|
|
NM_000057.4(BLM):c.2367G>A (p.Leu789=)
|
rs1060500651
|
|
|
NM_000057.4(BLM):c.2368G>A (p.Ala790Thr)
|
|
|
|
NM_000057.4(BLM):c.2368G>C (p.Ala790Pro)
|
|
|
|
NM_000057.4(BLM):c.2368G>T (p.Ala790Ser)
|
rs777355959
|
|
|
NM_000057.4(BLM):c.2369C>A (p.Ala790Glu)
|
|
|
|
NM_000057.4(BLM):c.2369C>T (p.Ala790Val)
|
rs2151165767
|
|
|
NM_000057.4(BLM):c.2374T>G (p.Phe792Val)
|
rs982156188
|
|
|
NM_000057.4(BLM):c.2375T>G (p.Phe792Cys)
|
|
|
|
NM_000057.4(BLM):c.2377G>A (p.Val793Ile)
|
rs1198070682
|
|
|
NM_000057.4(BLM):c.237C>T (p.Asn79=)
|
|
|
|
NM_000057.4(BLM):c.2383G>A (p.Asp795Asn)
|
|
|
|
NM_000057.4(BLM):c.2384A>C (p.Asp795Ala)
|
|
|
|
NM_000057.4(BLM):c.2384A>G (p.Asp795Gly)
|
rs1596238327
|
|
|
NM_000057.4(BLM):c.2385T>C (p.Asp795=)
|
|
|
|
NM_000057.4(BLM):c.2385del (p.Asp795fs)
|
rs2151165798
|
|
|
NM_000057.4(BLM):c.2389G>A (p.Ala797Thr)
|
|
|
|
NM_000057.4(BLM):c.2389G>C (p.Ala797Pro)
|
|
|
|
NM_000057.4(BLM):c.238A>G (p.Thr80Ala)
|
rs1555418290
|
|
|
NM_000057.4(BLM):c.2390C>T (p.Ala797Val)
|
rs1896226916
|
|
|
NM_000057.4(BLM):c.2391A>C (p.Ala797=)
|
|
|
|
NM_000057.4(BLM):c.2391A>G (p.Ala797=)
|
|
|
|
NM_000057.4(BLM):c.2392C>G (p.His798Asp)
|
rs1896227131
|
|
|
NM_000057.4(BLM):c.2393A>G (p.His798Arg)
|
rs1596238349
|
|
|
NM_000057.4(BLM):c.2393A>T (p.His798Leu)
|
rs1596238349
|
|
|
NM_000057.4(BLM):c.2394T>C (p.His798=)
|
|
|
|
NM_000057.4(BLM):c.239C>T (p.Thr80Ile)
|
rs766303926
|
|
|
NM_000057.4(BLM):c.2400C>A (p.Val800=)
|
|
|
|
NM_000057.4(BLM):c.2400C>T (p.Val800=)
|
|
|
|
NM_000057.4(BLM):c.2402G>C (p.Ser801Thr)
|
rs1348827963
|
|
|
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter)
|
rs2151165848
|
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
|
NM_000057.4(BLM):c.2406+10G>C
|
|
|
|
NM_000057.4(BLM):c.2406+11T>A
|
|
|
|
NM_000057.4(BLM):c.2406+11T>G
|
rs1896228357
|
|
|
NM_000057.4(BLM):c.2406+14T>A
|
|
|
|
NM_000057.4(BLM):c.2406+16del
|
|
|
|
NM_000057.4(BLM):c.2406+16dup
|
rs769233210
|
|
|
NM_000057.4(BLM):c.2406+19A>G
|
rs2151165875
|
|
|
NM_000057.4(BLM):c.2406+5A>G
|
rs763104913
|
|
|
NM_000057.4(BLM):c.2406+8C>G
|
rs764181989
|
|
|
NM_000057.4(BLM):c.2406+8C>T
|
rs764181989
|
|
|
NM_000057.4(BLM):c.2406+9T>A
|
rs2151165855
|
|
|
NM_000057.4(BLM):c.2407-14T>A
|
|
|
|
NM_000057.4(BLM):c.2407-16T>G
|
rs2151166035
|
|
|
NM_000057.4(BLM):c.2407-17T>C
|
|
|
|
NM_000057.4(BLM):c.2407-17_2407-16insG
|
|
|
|
NM_000057.4(BLM):c.2407-18A>T
|
|
|
|
NM_000057.4(BLM):c.2407-5A>G
|
rs1555420870
|
|
|
NM_000057.4(BLM):c.2407-6A>T
|
rs1478497820
|
|
|
NM_000057.4(BLM):c.2407-7C>G
|
|
|
|
NM_000057.4(BLM):c.2407-7C>T
|
rs768836369
|
|
|
NM_000057.4(BLM):c.2407-7del
|
rs769184675
|
|
|
NM_000057.4(BLM):c.2407-8C>T
|
|
|
|
NM_000057.4(BLM):c.2407-9del
|
rs747699258
|
|
|
NM_000057.4(BLM):c.2407-9dup
|
rs747699258
|
|
|
NM_000057.4(BLM):c.2407T>A (p.Trp803Arg)
|
rs148394770
|
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
|
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter)
|
rs1896235438
|
|
|
NM_000057.4(BLM):c.240C>T (p.Thr80=)
|
rs1895606265
|
|
|
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
|
|
NM_000057.4(BLM):c.2411del (p.Gly804fs)
|
rs2151166065
|
|
|
NM_000057.4(BLM):c.2414A>G (p.His805Arg)
|
rs766292814
|
|
|
NM_000057.4(BLM):c.2415T>A (p.His805Gln)
|
rs1896235784
|
|
|
NM_000057.4(BLM):c.2415T>C (p.His805=)
|
rs1896235784
|
|
|
NM_000057.4(BLM):c.2419T>C (p.Phe807Leu)
|
|
|
|
NM_000057.4(BLM):c.241A>G (p.Thr81Ala)
|
rs1060500637
|
|
|
NM_000057.4(BLM):c.2420T>G (p.Phe807Cys)
|
|
|
|
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs)
|
|
|
|
NM_000057.4(BLM):c.2421T>C (p.Phe807=)
|
rs2151166092
|
|
|
NM_000057.4(BLM):c.2422C>G (p.Arg808Gly)
|
|
|
|
NM_000057.4(BLM):c.2427A>G (p.Gln809=)
|
rs1896236372
|
|
|
NM_000057.4(BLM):c.242C>A (p.Thr81Lys)
|
|
|
|
NM_000057.4(BLM):c.242C>G (p.Thr81Arg)
|
rs1895606466
|
|
|
NM_000057.4(BLM):c.2433C>T (p.Tyr811=)
|
rs377542595
|
|
|
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu)
|
rs763827222
|
|
|
NM_000057.4(BLM):c.2435A>G (p.Lys812Arg)
|
|
|
|
NM_000057.4(BLM):c.2438G>C (p.Arg813Thr)
|
|
|
|
NM_000057.4(BLM):c.2439A>G (p.Arg813=)
|
|
|
|
NM_000057.4(BLM):c.2441T>C (p.Met814Thr)
|
rs1596238678
|
|
|
NM_000057.4(BLM):c.2442G>T (p.Met814Ile)
|
rs1896237351
|
|
|
NM_000057.4(BLM):c.2445T>G (p.Asn815Lys)
|
rs1896237458
|
|
|
NM_000057.4(BLM):c.2448G>A (p.Met816Ile)
|
|
|
|
NM_000057.4(BLM):c.2448del (p.Met816fs)
|
rs1896237929
|
|
|
NM_000057.4(BLM):c.2449C>G (p.Leu817Val)
|
|
|
|
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
|
|
|
|
NM_000057.4(BLM):c.244A>T (p.Asn82Tyr)
|
rs2151146930
|
|
|
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys)
|
rs1279814185
|
|
|
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu)
|
rs780514723
|
|
|
NM_000057.4(BLM):c.2454C>A (p.Arg818=)
|
rs746409922
|
|
|
NM_000057.4(BLM):c.2456A>C (p.Gln819Pro)
|
|
|
|
NM_000057.4(BLM):c.2456del (p.Gln819fs)
|
|
|
|
NM_000057.4(BLM):c.2459A>G (p.Lys820Arg)
|
rs1896238883
|
|
|
NM_000057.4(BLM):c.245A>G (p.Asn82Ser)
|
rs1555418292
|
|
|
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn)
|
rs1596238751
|
|
|
NM_000057.4(BLM):c.2465C>G (p.Pro822Arg)
|
rs2151166181
|
|
|
NM_000057.4(BLM):c.2468C>G (p.Ser823Cys)
|
|
|
|
NM_000057.4(BLM):c.2469T>C (p.Ser823=)
|
rs780438135
|
|
|
NM_000057.4(BLM):c.2472T>A (p.Val824=)
|
|
|
|
NM_000057.4(BLM):c.2475G>C (p.Pro825=)
|
rs147587050
|
|
|
NM_000057.4(BLM):c.2476G>T (p.Val826Leu)
|
rs1319281718
|
|
|
NM_000057.4(BLM):c.2478G>A (p.Val826=)
|
|
|
|
NM_000057.4(BLM):c.2480T>A (p.Met827Lys)
|
rs748250819
|
|
|
NM_000057.4(BLM):c.2480T>C (p.Met827Thr)
|
rs748250819
|
|
|
NM_000057.4(BLM):c.2483C>T (p.Ala828Val)
|
rs2151166225
|
|
|
NM_000057.4(BLM):c.2485C>T (p.Leu829Phe)
|
|
|
|
NM_000057.4(BLM):c.2489C>A (p.Thr830Lys)
|
rs759545027
|
|
|
NM_000057.4(BLM):c.2489C>G (p.Thr830Arg)
|
rs759545027
|
|
|
NM_000057.4(BLM):c.248A>G (p.Gln83Arg)
|
rs377192173
|
|
|
NM_000057.4(BLM):c.2490G>T (p.Thr830=)
|
|
|
|
NM_000057.4(BLM):c.2491G>A (p.Ala831Thr)
|
rs2151166245
|
|
|
NM_000057.4(BLM):c.2491G>C (p.Ala831Pro)
|
|
|
|
NM_000057.4(BLM):c.2492C>T (p.Ala831Val)
|
|
|
|
NM_000057.4(BLM):c.2493C>T (p.Ala831=)
|
rs2151166253
|
|
|
NM_000057.4(BLM):c.2493del (p.Thr832fs)
|
rs2151166250
|
|
|
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile)
|
|
|
|
NM_000057.4(BLM):c.2496A>C (p.Thr832=)
|
rs762840557
|
|
|
NM_000057.4(BLM):c.2499T>C (p.Ala833=)
|
|
|
|
NM_000057.4(BLM):c.249G>A (p.Gln83=)
|
rs1430623511
|
|
|
NM_000057.4(BLM):c.24T>G (p.Asn8Lys)
|
rs1060500635
|
|
|
NM_000057.4(BLM):c.2501A>C (p.Asn834Thr)
|
rs1896241238
|
|
|
NM_000057.4(BLM):c.2502T>C (p.Asn834=)
|
rs2151166275
|
|
|
NM_000057.4(BLM):c.2503C>T (p.Pro835Ser)
|
rs2151166278
|
|
|
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly)
|
rs577806633
|
|
|
NM_000057.4(BLM):c.2506del (p.Arg836fs)
|
rs1567045531
|
|
|
NM_000057.4(BLM):c.2508G>A (p.Arg836=)
|
rs2151166304
|
|
|
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
|
|
|
|
NM_000057.4(BLM):c.2512C>A (p.Gln838Lys)
|
rs2151166312
|
|
|
NM_000057.4(BLM):c.2514G>A (p.Gln838=)
|
rs2151166322
|
|
|
NM_000057.4(BLM):c.2515_2517del (p.Lys839del)
|
|
|
|
NM_000057.4(BLM):c.2516A>C (p.Lys839Thr)
|
|
|
|
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg)
|
rs756815062
|
|
|
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn)
|
rs1238410843
|
|
|
NM_000057.4(BLM):c.2518G>C (p.Asp840His)
|
rs1238410843
|
|
|
NM_000057.4(BLM):c.2519A>C (p.Asp840Ala)
|
rs1896242514
|
|
|
NM_000057.4(BLM):c.2520C>T (p.Asp840=)
|
|
|
|
NM_000057.4(BLM):c.2523C>T (p.Ile841=)
|
|
|
|
NM_000057.4(BLM):c.2528C>T (p.Thr843Ile)
|
rs137853152
|
|
|
NM_000057.4(BLM):c.2529T>C (p.Thr843=)
|
rs2151166372
|
|
|
NM_000057.4(BLM):c.252A>C (p.Gln84His)
|
rs370062646
|
|
|
NM_000057.4(BLM):c.2532G>T (p.Gln844His)
|
rs1596238939
|
|
|
NM_000057.4(BLM):c.2534T>C (p.Leu845Pro)
|
|
|
|
NM_000057.4(BLM):c.2536A>G (p.Lys846Glu)
|
rs2151166388
|
|
|
NM_000057.4(BLM):c.2539A>C (p.Ile847Leu)
|
rs1896243843
|
|
|
NM_000057.4(BLM):c.2539A>T (p.Ile847Phe)
|
rs1896243843
|
|
|
NM_000057.4(BLM):c.2539del (p.Ile847fs)
|
rs770751979
|
|
|
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser)
|
rs756664681
|
|
|
NM_000057.4(BLM):c.2543T>G (p.Leu848Arg)
|
rs2151166410
|
|
|
NM_000057.4(BLM):c.2544C>G (p.Leu848=)
|
|
|
|
NM_000057.4(BLM):c.2548C>T (p.Pro850Ser)
|
|
|
|
NM_000057.4(BLM):c.2548_2555+12del
|
|
|
|
NM_000057.4(BLM):c.2549C>G (p.Pro850Arg)
|
|
|
|
NM_000057.4(BLM):c.2549C>T (p.Pro850Leu)
|
rs1896244485
|
|
|
NM_000057.4(BLM):c.254G>A (p.Arg85Lys)
|
|
|
|
NM_000057.4(BLM):c.2553G>C (p.Gln851His)
|
|
|
|
NM_000057.4(BLM):c.2553G>T (p.Gln851His)
|
rs1896244976
|
|
|
NM_000057.4(BLM):c.2554G>C (p.Val852Leu)
|
rs1896245090
|
|
|
NM_000057.4(BLM):c.2555+10T>C
|
rs2151166449
|
|
|
NM_000057.4(BLM):c.2555+13A>C
|
|
|
|
NM_000057.4(BLM):c.2555+13A>G
|
|
|
|
NM_000057.4(BLM):c.2555+13A>T
|
|
|
|
NM_000057.4(BLM):c.2555+15G>C
|
rs376896850
|
|
|
NM_000057.4(BLM):c.2555+16_2555+17delinsAT
|
rs2151166465
|
|
|
NM_000057.4(BLM):c.2555+17C>G
|
rs747061490
|
|
|
NM_000057.4(BLM):c.2555+17C>T
|
|
|
|
NM_000057.4(BLM):c.2555+17del
|
|
|
|
NM_000057.4(BLM):c.2555+19C>A
|
|
|
|
NM_000057.4(BLM):c.2555+19C>T
|
|
|
|
NM_000057.4(BLM):c.2555+1G>A
|
|
|
|
NM_000057.4(BLM):c.2555+20G>C
|
|
|
|
NM_000057.4(BLM):c.2555+20G>T
|
rs762930185
|
|
|
NM_000057.4(BLM):c.2555+5del
|
|
|
|
NM_000057.4(BLM):c.2555+6T>C
|
rs1596238993
|
|
|
NM_000057.4(BLM):c.2555+7_2555+8inv
|
|
|
|
NM_000057.4(BLM):c.2556-10A>G
|
|
|
|
NM_000057.4(BLM):c.2556-11G>A
|
|
|
|
NM_000057.4(BLM):c.2556-11G>C
|
|
|
|
NM_000057.4(BLM):c.2556-12G>A
|
|
|
|
NM_000057.4(BLM):c.2556-12G>C
|
rs2151177995
|
|
|
NM_000057.4(BLM):c.2556-18T>C
|
|
|
|
NM_000057.4(BLM):c.2556-18T>G
|
rs2151177989
|
|
|
NM_000057.4(BLM):c.2556-19A>G
|
|
|
|
NM_000057.4(BLM):c.2556-19A>T
|
|
|
|
NM_000057.4(BLM):c.2556-1G>T
|
rs1896650174
|
|
|
NM_000057.4(BLM):c.2556-2A>G
|
rs1596250255
|
|
|
NM_000057.4(BLM):c.2556-7T>C
|
|
|
|
NM_000057.4(BLM):c.2556-8T>A
|
rs1567052156
|
|
|
NM_000057.4(BLM):c.2556-8T>C
|
rs1567052156
|
|
|
NM_000057.4(BLM):c.2556-8T>G
|
rs1567052156
|
|
|
NM_000057.4(BLM):c.2556G>T (p.Val852=)
|
rs1896650229
|
|
|
NM_000057.4(BLM):c.2559del (p.Phe853fs)
|
rs2151178019
|
|
|
NM_000057.4(BLM):c.255G>A (p.Arg85=)
|
|
|
|
NM_000057.4(BLM):c.2561G>T (p.Ser854Ile)
|
|
|
|
NM_000057.4(BLM):c.2563A>G (p.Met855Val)
|
rs1567052166
|
|
|
NM_000057.4(BLM):c.2565G>C (p.Met855Ile)
|
|
|
|
NM_000057.4(BLM):c.256G>C (p.Val86Leu)
|
rs1596218041
|
|
|
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp)
|
rs1555422355
|
|
|
NM_000057.4(BLM):c.2574C>T (p.Asn858=)
|
|
|
|
NM_000057.4(BLM):c.2576G>A (p.Arg859Lys)
|
|
|
|
NM_000057.4(BLM):c.2579A>G (p.His860Arg)
|
|
|
|
NM_000057.4(BLM):c.2579del (p.His860fs)
|
rs2151178044
|
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
|
NM_000057.4(BLM):c.2584C>G (p.Leu862Val)
|
rs1596250300
|
|
|
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter)
|
rs1896651394
|
|
|
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser)
|
rs777842626
|
|
|
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
|
|
|
|
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
|
|
NM_000057.4(BLM):c.2595T>C (p.Tyr865=)
|
rs1060503989
|
|
|
NM_000057.4(BLM):c.2596G>A (p.Val866Ile)
|
rs1316728192
|
|
|
NM_000057.4(BLM):c.2598A>G (p.Val866=)
|
rs574053990
|
|
|
NM_000057.4(BLM):c.25C>T (p.Leu9=)
|
rs1596215640
|
|
|
NM_000057.4(BLM):c.2601A>C (p.Leu867Phe)
|
|
|
|
NM_000057.4(BLM):c.2603C>A (p.Pro868Gln)
|
rs2227935
|
|
|
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg)
|
rs2227935
|
|
|
NM_000057.4(BLM):c.2605A>C (p.Lys869Gln)
|
rs1555422363
|
|
|
NM_000057.4(BLM):c.2605A>G (p.Lys869Glu)
|
|
|
|
NM_000057.4(BLM):c.2608A>C (p.Lys870Gln)
|
rs2151178094
|
|
|
NM_000057.4(BLM):c.2614A>G (p.Lys872Glu)
|
|
|
|
NM_000057.4(BLM):c.2617A>G (p.Lys873Glu)
|
rs2151178110
|
|
|
NM_000057.4(BLM):c.2618A>T (p.Lys873Met)
|
|
|
|
NM_000057.4(BLM):c.2620G>A (p.Val874Met)
|
rs1896652959
|
|
|
NM_000057.4(BLM):c.2620del (p.Val874fs)
|
|
|
|
NM_000057.4(BLM):c.2622G>A (p.Val874=)
|
rs760261440
|
|
|
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu)
|
rs1596250413
|
|
|
NM_000057.4(BLM):c.2629G>T (p.Asp877Tyr)
|
|
|
|
NM_000057.4(BLM):c.262G>C (p.Asp88His)
|
rs752379441
|
|
|
NM_000057.4(BLM):c.262G>T (p.Asp88Tyr)
|
|
|
|
NM_000057.4(BLM):c.2630A>G (p.Asp877Gly)
|
rs1373872204
|
|
|
NM_000057.4(BLM):c.2633G>A (p.Cys878Tyr)
|
|
|
|
NM_000057.4(BLM):c.2637A>G (p.Leu879=)
|
rs1896653550
|
|
|
NM_000057.4(BLM):c.2639A>G (p.Glu880Gly)
|
rs2151178151
|
|
|
NM_000057.4(BLM):c.2640A>G (p.Glu880=)
|
rs1301492880
|
|
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
|
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys)
|
rs367543039
|
|
|
NM_000057.4(BLM):c.2643G>T (p.Trp881Cys)
|
|
|
|
NM_000057.4(BLM):c.2646C>T (p.Ile882=)
|
rs760072975
|
|
|
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly)
|
rs1035944262
|
|
|
NM_000057.4(BLM):c.2649A>G (p.Arg883=)
|
|
|
|
NM_000057.4(BLM):c.264C>T (p.Asp88=)
|
rs757984551
|
|
|
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del)
|
rs1555418301
|
|
|
NM_000057.4(BLM):c.2652G>A (p.Lys884=)
|
rs1596250475
|
|
|
NM_000057.4(BLM):c.2653C>T (p.His885Tyr)
|
rs2151178164
|
|
|
NM_000057.4(BLM):c.2656C>T (p.His886Tyr)
|
|
|
|
NM_000057.4(BLM):c.265T>A (p.Phe89Ile)
|
rs1895607752
|
|
|
NM_000057.4(BLM):c.2662+11C>G
|
|
|
|
NM_000057.4(BLM):c.2662+11C>T
|
|
|
|
NM_000057.4(BLM):c.2662+14T>C
|
|
|
|
NM_000057.4(BLM):c.2662+15G>A
|
rs1335538618
|
|
|
NM_000057.4(BLM):c.2662+18A>G
|
rs2151178213
|
|
|
NM_000057.4(BLM):c.2662+19T>C
|
|
|
|
NM_000057.4(BLM):c.2662+20T>A
|
rs2151178215
|
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
|
NM_000057.4(BLM):c.2662+2T>G
|
rs1567052324
|
|
|
NM_000057.4(BLM):c.2662+3G>A
|
rs1297020716
|
|
|
NM_000057.4(BLM):c.2662+6T>C
|
|
|
|
NM_000057.4(BLM):c.2663-12G>A
|
rs2151179669
|
|
|
NM_000057.4(BLM):c.2663-13G>A
|
|
|
|
NM_000057.4(BLM):c.2663-15T>C
|
rs1896705664
|
|
|
NM_000057.4(BLM):c.2663-4G>A
|
rs2151179676
|
|
|
NM_000057.4(BLM):c.2663-5G>A
|
rs1161787867
|
|
|
NM_000057.4(BLM):c.2663-6T>C
|
rs2151179672
|
|
|
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
|
|
|
|
NM_000057.4(BLM):c.2671G>A (p.Gly891Arg)
|
|
|
|
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu)
|
rs763471784
|
|
|
NM_000057.4(BLM):c.2673G>T (p.Gly891=)
|
|
|
|
NM_000057.4(BLM):c.2676A>G (p.Ile892Met)
|
|
|
|
NM_000057.4(BLM):c.267C>A (p.Phe89Leu)
|
|
|
|
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly)
|
rs587779883
|
|
|
NM_000057.4(BLM):c.2686C>G (p.Leu896Val)
|
rs151309611
|
|
|
NM_000057.4(BLM):c.2686C>T (p.Leu896Phe)
|
rs151309611
|
|
|
NM_000057.4(BLM):c.2688C>T (p.Leu896=)
|
rs1488182321
|
|
|
NM_000057.4(BLM):c.2689T>C (p.Ser897Pro)
|
rs1896706876
|
|
|
NM_000057.4(BLM):c.2694G>A (p.Arg898=)
|
rs2151179730
|
|
|
NM_000057.4(BLM):c.2695C>A (p.Arg899=)
|
|
|
|
NM_000057.4(BLM):c.2695C>G (p.Arg899Gly)
|
rs587779884
|
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
|
NM_000057.4(BLM):c.2702G>T (p.Cys901Phe)
|
rs758311406
|
|
|
NM_000057.4(BLM):c.2705A>G (p.Asp902Gly)
|
|
|
|
NM_000057.4(BLM):c.2706C>T (p.Asp902=)
|
rs1219646041
|
|
|
NM_000057.4(BLM):c.2708C>A (p.Thr903Asn)
|
rs777584683
|
|
|
NM_000057.4(BLM):c.2709C>G (p.Thr903=)
|
rs1555422522
|
|
|
NM_000057.4(BLM):c.2709C>T (p.Thr903=)
|
rs1555422522
|
|
|
NM_000057.4(BLM):c.2711T>C (p.Met904Thr)
|
|
|
|
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr)
|
rs1596252085
|
|
|
NM_000057.4(BLM):c.2715T>C (p.Ala905=)
|
|
|
|
NM_000057.4(BLM):c.2716G>A (p.Asp906Asn)
|
rs2151179756
|
|
|
NM_000057.4(BLM):c.2718C>A (p.Asp906Glu)
|
|
|
|
NM_000057.4(BLM):c.2719A>G (p.Thr907Ala)
|
rs2151179767
|
|
|
NM_000057.4(BLM):c.271A>G (p.Lys91Glu)
|
|
|
|
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
|
|
|
|
NM_000057.4(BLM):c.2722T>C (p.Leu908=)
|
|
|
|
NM_000057.4(BLM):c.2724A>G (p.Leu908=)
|
rs1052357089
|
|
|
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu)
|
rs1456964727
|
|
|
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter)
|
rs1456964727
|
|
|
NM_000057.4(BLM):c.2725_2751del (p.Gln909_Ala917del)
|
|
|
|
NM_000057.4(BLM):c.2726A>C (p.Gln909Pro)
|
rs770627241
|
|
|
NM_000057.4(BLM):c.2727G>A (p.Gln909=)
|
rs2151179788
|
|
|
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr)
|
rs1567053290
|
|
|
NM_000057.4(BLM):c.2730A>G (p.Arg910=)
|
|
|
|
NM_000057.4(BLM):c.2732A>T (p.Asp911Val)
|
rs1596252149
|
|
|
NM_000057.4(BLM):c.2733T>C (p.Asp911=)
|
|
|
|
NM_000057.4(BLM):c.2735G>A (p.Gly912Glu)
|
rs2151179803
|
|
|
NM_000057.4(BLM):c.2739C>A (p.Leu913=)
|
rs759223856
|
|
|
NM_000057.4(BLM):c.2742T>C (p.Ala914=)
|
|
|
|
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr)
|
rs1896709530
|
|
|
NM_000057.4(BLM):c.2743G>C (p.Ala915Pro)
|
|
|
|
NM_000057.4(BLM):c.2746C>G (p.Leu916Val)
|
rs1424143421
|
|
|
NM_000057.4(BLM):c.2748T>G (p.Leu916=)
|
rs2151179825
|
|
|
NM_000057.4(BLM):c.2755C>A (p.His919Asn)
|
rs1284859576
|
|
|
NM_000057.4(BLM):c.2755C>G (p.His919Asp)
|
|
|
|
NM_000057.4(BLM):c.2757T>C (p.His919=)
|
rs2151179837
|
|
|
NM_000057.4(BLM):c.2759C>G (p.Ala920Gly)
|
|
|
|
NM_000057.4(BLM):c.2760T>C (p.Ala920=)
|
rs1321253830
|
|
|
NM_000057.4(BLM):c.2760T>G (p.Ala920=)
|
rs1321253830
|
|
|
NM_000057.4(BLM):c.2762G>T (p.Gly921Val)
|
|
|
|
NM_000057.4(BLM):c.2768G>A (p.Ser923Asn)
|
rs1219485932
|
|
|
NM_000057.4(BLM):c.2768G>C (p.Ser923Thr)
|
rs1219485932
|
|
|
NM_000057.4(BLM):c.2769T>A (p.Ser923Arg)
|
|
|
|
NM_000057.4(BLM):c.2769T>C (p.Ser923=)
|
rs1596252204
|
|
|
NM_000057.4(BLM):c.2773T>G (p.Ser925Ala)
|
rs1896710618
|
|
|
NM_000057.4(BLM):c.2774C>A (p.Ser925Tyr)
|
rs2151179877
|
|
|
NM_000057.4(BLM):c.2774C>T (p.Ser925Phe)
|
|
|
|
NM_000057.4(BLM):c.2775T>C (p.Ser925=)
|
rs1596252208
|
|
|
NM_000057.4(BLM):c.2776G>T (p.Ala926Ser)
|
rs1896710799
|
|
|
NM_000057.4(BLM):c.2778C>G (p.Ala926=)
|
|
|
|
NM_000057.4(BLM):c.2779A>G (p.Arg927Gly)
|
rs1896710903
|
|
|
NM_000057.4(BLM):c.277G>A (p.Ala93Thr)
|
|
|
|
NM_000057.4(BLM):c.2780G>C (p.Arg927Thr)
|
|
|
|
NM_000057.4(BLM):c.2781del (p.Asp928fs)
|
|
|
|
NM_000057.4(BLM):c.2782G>T (p.Asp928Tyr)
|
|
|
|
NM_000057.4(BLM):c.2783A>G (p.Asp928Gly)
|
rs1896711135
|
|
|
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp)
|
rs764679551
|
|
|
NM_000057.4(BLM):c.2789T>G (p.Val930Gly)
|
rs2151179915
|
|
|
NM_000057.4(BLM):c.278C>A (p.Ala93Asp)
|
rs2151147003
|
|
|
NM_000057.4(BLM):c.2790G>A (p.Val930=)
|
|
|
|
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
|
|
|
|
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
|
|
|
|
NM_000057.4(BLM):c.2792A>G (p.Gln931Arg)
|
rs1178355159
|
|
|
NM_000057.4(BLM):c.2793G>A (p.Gln931=)
|
rs1192168118
|
|
|
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter)
|
rs2151179928
|
|
|
NM_000057.4(BLM):c.2797A>G (p.Lys933Glu)
|
|
|
|
NM_000057.4(BLM):c.27A>G (p.Leu9=)
|
rs2151145006
|
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
|
NM_000057.4(BLM):c.2802G>T (p.Trp934Cys)
|
rs2151179931
|
|
|
NM_000057.4(BLM):c.280C>T (p.Pro94Ser)
|
rs1417089374
|
|
|
NM_000057.4(BLM):c.2814T>A (p.Asp938Glu)
|
|
|
|
NM_000057.4(BLM):c.2818dup (p.Cys940fs)
|
rs2151179952
|
|
|
NM_000057.4(BLM):c.2823+11T>A
|
|
|
|
NM_000057.4(BLM):c.2823+12A>G
|
|
|
|
NM_000057.4(BLM):c.2823+15G>C
|
rs750620938
|
|
|
NM_000057.4(BLM):c.2823+19A>T
|
|
|
|
NM_000057.4(BLM):c.2823+20A>C
|
|
|
|
NM_000057.4(BLM):c.2823+21_2823+24del
|
rs2151179993
|
|
|
NM_000057.4(BLM):c.2823+9T>C
|
|
|
|
NM_000057.4(BLM):c.2823G>A (p.Gln941=)
|
|
|
|
NM_000057.4(BLM):c.2823_2823+3del
|
|
|
|
NM_000057.4(BLM):c.2824-10T>C
|
|
|
|
NM_000057.4(BLM):c.2824-12C>T
|
rs1314614444
|
|
|
NM_000057.4(BLM):c.2824-14T>C
|
|
|
|
NM_000057.4(BLM):c.2824-17T>G
|
|
|
|
NM_000057.4(BLM):c.2824-1G>C
|
rs1555423062
|
|
|
NM_000057.4(BLM):c.2824-2A>C
|
rs745538883
|
|
|
NM_000057.4(BLM):c.2824-3C>T
|
rs2151184427
|
|
|
NM_000057.4(BLM):c.2824-7A>G
|
rs374616797
|
|
|
NM_000057.4(BLM):c.2824-7A>T
|
rs374616797
|
|
|
NM_000057.4(BLM):c.2824G>C (p.Val942Leu)
|
|
|
|
NM_000057.4(BLM):c.2825T>C (p.Val942Ala)
|
|
|
|
NM_000057.4(BLM):c.2829C>G (p.Ile943Met)
|
rs1596257034
|
|
|
NM_000057.4(BLM):c.2832T>C (p.Cys944=)
|
|
|
|
NM_000057.4(BLM):c.2833G>A (p.Ala945Thr)
|
rs1896880211
|
|
|
NM_000057.4(BLM):c.2833G>T (p.Ala945Ser)
|
|
|
|
NM_000057.4(BLM):c.2835T>C (p.Ala945=)
|
|
|
|
NM_000057.4(BLM):c.2837C>A (p.Thr946Lys)
|
rs2151184440
|
|
|
NM_000057.4(BLM):c.2837C>T (p.Thr946Ile)
|
rs2151184440
|
|
|
NM_000057.4(BLM):c.2838A>T (p.Thr946=)
|
rs200850440
|
|
|
NM_000057.4(BLM):c.283G>A (p.Ala95Thr)
|
rs1432459834
|
|
|
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu)
|
rs1156545383
|
|
|
NM_000057.4(BLM):c.2844A>G (p.Ala948=)
|
|
|
|
NM_000057.4(BLM):c.2849G>A (p.Gly950Glu)
|
|
|
|
NM_000057.4(BLM):c.284C>A (p.Ala95Glu)
|
rs751028188
|
|
|
NM_000057.4(BLM):c.284C>T (p.Ala95Val)
|
rs751028188
|
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
|
NM_000057.4(BLM):c.2853G>C (p.Met951Ile)
|
|
|
|
NM_000057.4(BLM):c.2853G>T (p.Met951Ile)
|
rs1896881384
|
|
|
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr)
|
rs587778102
|
|
|
NM_000057.4(BLM):c.2859T>C (p.Ile953=)
|
|
|
|
NM_000057.4(BLM):c.2862C>T (p.Asp954=)
|
rs907953613
|
|
|
NM_000057.4(BLM):c.2865A>G (p.Lys955=)
|
rs1896882039
|
|
|
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
|
|
|
|
NM_000057.4(BLM):c.2872G>T (p.Val958Leu)
|
|
|
|
NM_000057.4(BLM):c.2873T>A (p.Val958Glu)
|
rs1555423088
|
|
|
NM_000057.4(BLM):c.2874G>A (p.Val958=)
|
rs2151184510
|
|
|
NM_000057.4(BLM):c.2875C>A (p.Arg959=)
|
rs762354041
|
|
|
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)
|
rs762354041
|
|
|
NM_000057.4(BLM):c.2877A>T (p.Arg959=)
|
|
|
|
NM_000057.4(BLM):c.2881G>A (p.Val961Met)
|
|
|
|
NM_000057.4(BLM):c.2881G>T (p.Val961Leu)
|
rs1060500639
|
|
|
NM_000057.4(BLM):c.2882T>C (p.Val961Ala)
|
rs1567056582
|
|
|
NM_000057.4(BLM):c.2884A>T (p.Ile962Phe)
|
rs1896883323
|
|
|
NM_000057.4(BLM):c.2887C>A (p.His963Asn)
|
|
|
|
NM_000057.4(BLM):c.2887C>T (p.His963Tyr)
|
rs367543023
|
|
|
NM_000057.4(BLM):c.2889T>C (p.His963=)
|
|
|
|
NM_000057.4(BLM):c.288A>G (p.Gly96=)
|
rs2151147023
|
|
|
NM_000057.4(BLM):c.2890G>A (p.Ala964Thr)
|
|
|
|
NM_000057.4(BLM):c.2891C>T (p.Ala964Val)
|
|
|
|
NM_000057.4(BLM):c.2892A>C (p.Ala964=)
|
rs973389134
|
|
|
NM_000057.4(BLM):c.2892A>G (p.Ala964=)
|
rs973389134
|
|
|
NM_000057.4(BLM):c.2893T>A (p.Ser965Thr)
|
rs1349078237
|
|
|
NM_000057.4(BLM):c.2895T>A (p.Ser965=)
|
rs2151184545
|
|
|
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)
|
|
|
|
NM_000057.4(BLM):c.2898C>T (p.Leu966=)
|
rs201220226
|
|
|
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
|
|
|
|
NM_000057.4(BLM):c.2900C>A (p.Pro967His)
|
rs2151184560
|
|
|
NM_000057.4(BLM):c.2900C>G (p.Pro967Arg)
|
|
|
|
NM_000057.4(BLM):c.2900del (p.Pro967fs)
|
rs2151184555
|
|
|
NM_000057.4(BLM):c.2901T>A (p.Pro967=)
|
|
|
|
NM_000057.4(BLM):c.2905T>A (p.Ser969Thr)
|
|
|
|
NM_000057.4(BLM):c.290A>C (p.Gln97Pro)
|
|
|
|
NM_000057.4(BLM):c.2911G>A (p.Glu971Lys)
|
rs2151184569
|
|
|
NM_000057.4(BLM):c.2917T>A (p.Tyr973Asn)
|
rs1555423104
|
|
|
NM_000057.4(BLM):c.2917del (p.Tyr973fs)
|
rs2151184585
|
|
|
NM_000057.4(BLM):c.2921A>C (p.Tyr974Ser)
|
rs1051102270
|
|
|
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
|
|
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
|
NM_000057.4(BLM):c.2925A>T (p.Gln975His)
|
|
|
|
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
|
|
|
|
NM_000057.4(BLM):c.2929T>G (p.Ser977Ala)
|
rs912097353
|
|
|
NM_000057.4(BLM):c.292G>A (p.Glu98Lys)
|
rs1895608811
|
|
|
NM_000057.4(BLM):c.2934C>A (p.Gly978=)
|
rs2151184603
|
|
|
NM_000057.4(BLM):c.2936G>A (p.Arg979Lys)
|
rs944867688
|
|
|
NM_000057.4(BLM):c.2938G>A (p.Ala980Thr)
|
rs1041847799
|
|
|
NM_000057.4(BLM):c.2939C>T (p.Ala980Val)
|
|
|
|
NM_000057.4(BLM):c.2940T>C (p.Ala980=)
|
rs1596257223
|
|
|
NM_000057.4(BLM):c.2940T>G (p.Ala980=)
|
rs1596257223
|
|
|
NM_000057.4(BLM):c.2942G>C (p.Gly981Ala)
|
|
|
|
NM_000057.4(BLM):c.2947G>T (p.Asp983Tyr)
|
rs1896886181
|
|
|
NM_000057.4(BLM):c.2948A>T (p.Asp983Val)
|
rs1896886266
|
|
|
NM_000057.4(BLM):c.2949T>C (p.Asp983=)
|
rs2151184627
|
|
|
NM_000057.4(BLM):c.294A>G (p.Glu98=)
|
rs2151147036
|
|
|
NM_000057.4(BLM):c.2952G>A (p.Gly984=)
|
|
|
|
NM_000057.4(BLM):c.2955A>C (p.Glu985Asp)
|
|
|
|
NM_000057.4(BLM):c.2957T>C (p.Ile986Thr)
|
rs1060500631
|
|
|
NM_000057.4(BLM):c.2957del (p.Ile986fs)
|
|
|
|
NM_000057.4(BLM):c.2960C>G (p.Ser987Cys)
|
rs1555423111
|
|
|
NM_000057.4(BLM):c.2960C>T (p.Ser987Phe)
|
rs1555423111
|
|
|
NM_000057.4(BLM):c.2962C>T (p.His988Tyr)
|
rs1896886993
|
|
|
NM_000057.4(BLM):c.2965T>C (p.Cys989Arg)
|
rs1555423112
|
|
|
NM_000057.4(BLM):c.2966G>T (p.Cys989Phe)
|
|
|
|
NM_000057.4(BLM):c.2968C>T (p.Leu990=)
|
|
|
|
NM_000057.4(BLM):c.2970G>A (p.Leu990=)
|
|
|
|
NM_000057.4(BLM):c.2973T>C (p.Leu991=)
|
rs2151184673
|
|
|
NM_000057.4(BLM):c.2974T>C (p.Phe992Leu)
|
rs2151184675
|
|
|
NM_000057.4(BLM):c.2980A>G (p.Thr994Ala)
|
rs1060500632
|
|
|
NM_000057.4(BLM):c.2980del (p.Thr994fs)
|
rs1164844135
|
|
|
NM_000057.4(BLM):c.2982C>G (p.Thr994=)
|
rs2151184697
|
|
|
NM_000057.4(BLM):c.2983T>A (p.Tyr995Asn)
|
rs142723411
|
|
|
NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys)
|
rs779755994
|
|
|
NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe)
|
rs779755994
|
|
|
NM_000057.4(BLM):c.2986C>T (p.His996Tyr)
|
|
|
|
NM_000057.4(BLM):c.2988T>G (p.His996Gln)
|
|
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
|
NM_000057.4(BLM):c.2991_2995del (p.Val998fs)
|
rs2151184718
|
|
|
NM_000057.4(BLM):c.2994G>A (p.Val998=)
|
rs1596257300
|
|
|
NM_000057.4(BLM):c.2996C>G (p.Thr999Ser)
|
rs1567056730
|
|
|
NM_000057.4(BLM):c.2996C>T (p.Thr999Ile)
|
rs1567056730
|
|
|
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr)
|
rs1596257309
|
|
|
NM_000057.4(BLM):c.299dup (p.Arg101fs)
|
|
|
|
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser)
|
rs1395403568
|
|
|
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
|
|
|
|
NM_000057.4(BLM):c.300G>A (p.Gln100=)
|
rs2151147068
|
|
|
NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe)
|
rs778515103
|
|
|
NM_000057.4(BLM):c.3011T>A (p.Leu1004His)
|
rs2151184755
|
|
|
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs)
|
rs2151184759
|
|
|
NM_000057.4(BLM):c.3012T>C (p.Leu1004=)
|
rs2151184763
|
|
|
NM_000057.4(BLM):c.3012_3014dup (p.Ile1005_Met1006insIle)
|
|
|
|
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val)
|
rs201829983
|
|
|
NM_000057.4(BLM):c.3014T>A (p.Ile1005Lys)
|
rs772671554
|
|
|
NM_000057.4(BLM):c.3015A>G (p.Ile1005Met)
|
rs1567056762
|
|
|
NM_000057.4(BLM):c.3015_3017del (p.Ile1005del)
|
rs2151184770
|
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
|
NM_000057.4(BLM):c.3019+10G>T
|
|
|
|
NM_000057.4(BLM):c.3019+12T>G
|
|
|
|
NM_000057.4(BLM):c.3019+13C>T
|
rs942808732
|
|
|
NM_000057.4(BLM):c.3019+14C>T
|
|
|
|
NM_000057.4(BLM):c.3019+15A>G
|
|
|
|
NM_000057.4(BLM):c.3019+19T>C
|
rs1896890749
|
|
|
NM_000057.4(BLM):c.3019+20A>G
|
|
|
|
NM_000057.4(BLM):c.3019+23_3019+24del
|
|
|
|
NM_000057.4(BLM):c.3019+7T>A
|
rs761087545
|
|
|
NM_000057.4(BLM):c.3019+9G>A
|
rs771124658
|
|
|
NM_000057.4(BLM):c.3019+9G>C
|
rs771124658
|
|
|
NM_000057.4(BLM):c.301_304del (p.Arg101fs)
|
rs1489224386
|
|
|
NM_000057.4(BLM):c.3020-11A>C
|
rs1331229405
|
|
|
NM_000057.4(BLM):c.3020-16T>G
|
|
|
|
NM_000057.4(BLM):c.3020-19T>A
|
rs1896970434
|
|
|
NM_000057.4(BLM):c.3020-19T>C
|
|
|
|
NM_000057.4(BLM):c.3020-20A>G
|
rs2151187095
|
|
|
NM_000057.4(BLM):c.3020-3T>C
|
rs1896971029
|
|
|
NM_000057.4(BLM):c.3020-3del
|
rs1596259793
|
|
|
NM_000057.4(BLM):c.3020-4T>A
|
|
|
|
NM_000057.4(BLM):c.3020-4T>C
|
|
|
|
NM_000057.4(BLM):c.3020-4T>G
|
|
|
|
NM_000057.4(BLM):c.3020-4_3020-3del
|
rs1596259793
|
|
|
NM_000057.4(BLM):c.3020-7C>G
|
rs1596259789
|
|
|
NM_000057.4(BLM):c.3020-7C>T
|
rs1596259789
|
|
|
NM_000057.4(BLM):c.3020-7_3020-5del
|
rs1596259785
|
|
|
NM_000057.4(BLM):c.3023A>T (p.Glu1008Val)
|
rs1896971371
|
|
|
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
|
|
|
|
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val)
|
rs1459742200
|
|
|
NM_000057.4(BLM):c.3035A>G (p.Asn1012Ser)
|
rs1896971948
|
|
|
NM_000057.4(BLM):c.3036C>T (p.Asn1012=)
|
|
|
|
NM_000057.4(BLM):c.3038A>G (p.His1013Arg)
|
rs2151187153
|
|
|
NM_000057.4(BLM):c.3039T>C (p.His1013=)
|
rs747406569
|
|
|
NM_000057.4(BLM):c.3040C>G (p.His1014Asp)
|
rs1896972234
|
|
|
NM_000057.4(BLM):c.3043A>G (p.Thr1015Ala)
|
rs1896972529
|
|
|
NM_000057.4(BLM):c.3044C>A (p.Thr1015Lys)
|
|
|
|
NM_000057.4(BLM):c.3045A>G (p.Thr1015=)
|
rs966206627
|
|
|
NM_000057.4(BLM):c.3046A>G (p.Arg1016Gly)
|
rs1596259855
|
|
|
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr)
|
rs2151187181
|
|
|
NM_000057.4(BLM):c.3048A>G (p.Arg1016=)
|
|
|
|
NM_000057.4(BLM):c.3049G>C (p.Glu1017Gln)
|
|
|
|
NM_000057.4(BLM):c.304G>A (p.Gly102Ser)
|
rs1215126785
|
|
|
NM_000057.4(BLM):c.3050A>G (p.Glu1017Gly)
|
rs2151187186
|
|
|
NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala)
|
rs1896972868
|
|
|
NM_000057.4(BLM):c.3055C>G (p.His1019Asp)
|
|
|
|
NM_000057.4(BLM):c.3056A>C (p.His1019Pro)
|
rs769982824
|
|
|
NM_000057.4(BLM):c.3057C>T (p.His1019=)
|
rs539573731
|
|
|
NM_000057.4(BLM):c.305G>A (p.Gly102Asp)
|
rs1186813751
|
|
|
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp)
|
rs374105075
|
|
|
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile)
|
rs369629509
|
|
|
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
|
|
|
|
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
|
|
|
|
NM_000057.4(BLM):c.3078G>A (p.Met1026Ile)
|
rs2151187237
|
|
|
NM_000057.4(BLM):c.3078G>T (p.Met1026Ile)
|
rs2151187237
|
|
|
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)
|
|
|
|
NM_000057.4(BLM):c.3080T>C (p.Val1027Ala)
|
rs373868675
|
|
|
NM_000057.4(BLM):c.3081A>G (p.Val1027=)
|
|
|
|
NM_000057.4(BLM):c.3083A>G (p.His1028Arg)
|
rs1487267563
|
|
|
NM_000057.4(BLM):c.3083A>T (p.His1028Leu)
|
|
|
|
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter)
|
rs1896974524
|
|
|
NM_000057.4(BLM):c.3087C>T (p.Tyr1029=)
|
|
|
|
NM_000057.4(BLM):c.3088T>G (p.Cys1030Gly)
|
rs1896974604
|
|
|
NM_000057.4(BLM):c.3091G>A (p.Glu1031Lys)
|
rs1396000294
|
|
|
NM_000057.4(BLM):c.3092A>G (p.Glu1031Gly)
|
rs2151187263
|
|
|
NM_000057.4(BLM):c.3093A>G (p.Glu1031=)
|
rs2151187267
|
|
|
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr)
|
rs1311585637
|
|
|
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
|
|
|
|
NM_000057.4(BLM):c.30G>A (p.Gln10=)
|
rs2151145010
|
|
|
NM_000057.4(BLM):c.3101C>A (p.Thr1034Lys)
|
rs753652339
|
|
|
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met)
|
rs753652339
|
|
|
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)
|
|
|
|
NM_000057.4(BLM):c.3106T>A (p.Cys1036Ser)
|
|
|
|
NM_000057.4(BLM):c.3109A>G (p.Arg1037Gly)
|
rs2151187299
|
|
|
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr)
|
rs1555423425
|
|
|
NM_000057.4(BLM):c.3114A>C (p.Arg1038Ser)
|
rs1896976226
|
|
|
NM_000057.4(BLM):c.3116T>A (p.Ile1039Lys)
|
rs1896976347
|
|
|
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
|
|
|
|
NM_000057.4(BLM):c.3120G>A (p.Gln1040=)
|
rs1567058364
|
|
|
NM_000057.4(BLM):c.3121C>T (p.Leu1041Phe)
|
rs1224723855
|
|
|
NM_000057.4(BLM):c.3125del (p.Leu1042fs)
|
rs1896976755
|
|
|
NM_000057.4(BLM):c.3128C>T (p.Ala1043Val)
|
rs2229035
|
|
|
NM_000057.4(BLM):c.3129C>T (p.Ala1043=)
|
rs1896977206
|
|
|
NM_000057.4(BLM):c.312A>G (p.Ser104=)
|
rs2151147095
|
|
|
NM_000057.4(BLM):c.3131A>C (p.Tyr1044Ser)
|
|
|
|
NM_000057.4(BLM):c.3132C>T (p.Tyr1044=)
|
rs2151187348
|
|
|
NM_000057.4(BLM):c.3135T>C (p.Phe1045=)
|
rs1596260013
|
|
|
NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu)
|
|
|
|
NM_000057.4(BLM):c.3136G>C (p.Gly1046Arg)
|
rs373241803
|
|
|
NM_000057.4(BLM):c.3141A>G (p.Glu1047=)
|
rs1596260028
|
|
|
NM_000057.4(BLM):c.3143A>G (p.Asn1048Ser)
|
|
|
|
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter)
|
rs1188753950
|
|
|
NM_000057.4(BLM):c.3146G>A (p.Gly1049Glu)
|
rs2151187363
|
|
|
NM_000057.4(BLM):c.3147A>G (p.Gly1049=)
|
|
|
|
NM_000057.4(BLM):c.3148T>C (p.Phe1050Leu)
|
rs2151187365
|
|
|
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys)
|
rs1262516507
|
|
|
NM_000057.4(BLM):c.3153T>C (p.Asn1051=)
|
rs1262516507
|
|
|
NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr)
|
rs1596260044
|
|
|
NM_000057.4(BLM):c.3154C>T (p.Pro1052Ser)
|
|
|
|
NM_000057.4(BLM):c.3157G>A (p.Asp1053Asn)
|
|
|
|
NM_000057.4(BLM):c.315A>G (p.Lys105=)
|
rs2151147097
|
|
|
NM_000057.4(BLM):c.3160T>G (p.Phe1054Val)
|
rs2151187383
|
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
|
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg)
|
rs1465842377
|
|
|
NM_000057.4(BLM):c.3171A>G (p.Lys1057=)
|
rs2151187399
|
|
|
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn)
|
|
|
|
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
|
|
|
|
NM_000057.4(BLM):c.3174C>T (p.His1058=)
|
|
|
|
NM_000057.4(BLM):c.3180T>C (p.Asp1060=)
|
rs749458622
|
|
|
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile)
|
|
|
|
NM_000057.4(BLM):c.3181G>T (p.Val1061Phe)
|
|
|
|
NM_000057.4(BLM):c.3186T>A (p.Ser1062=)
|
rs774258877
|
|
|
NM_000057.4(BLM):c.3188G>A (p.Cys1063Tyr)
|
rs2151187434
|
|
|
NM_000057.4(BLM):c.3188G>T (p.Cys1063Phe)
|
|
|
|
NM_000057.4(BLM):c.3189T>C (p.Cys1063=)
|
|
|
|
NM_000057.4(BLM):c.318A>C (p.Ser106=)
|
rs2151147103
|
|
|
NM_000057.4(BLM):c.3190G>A (p.Asp1064Asn)
|
rs1896979510
|
|
|
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly)
|
rs367543032
|
|
|
NM_000057.4(BLM):c.3199T>C (p.Cys1067Arg)
|
rs1896980012
|
|
|
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)
|
rs587779885
|
|
|
NM_000057.4(BLM):c.3201T>C (p.Cys1067=)
|
|
|
|
NM_000057.4(BLM):c.3207A>G (p.Thr1069=)
|
|
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
|
NM_000057.4(BLM):c.3210+10_3210+11del
|
|
|
|
NM_000057.4(BLM):c.3210+11_3210+13del
|
rs1896980675
|
|
|
NM_000057.4(BLM):c.3210+14T>G
|
rs2151187475
|
|
|
NM_000057.4(BLM):c.3210+15T>G
|
|
|
|
NM_000057.4(BLM):c.3210+16T>G
|
|
|
|
NM_000057.4(BLM):c.3210+17T>C
|
|
|
|
NM_000057.4(BLM):c.3210+20A>C
|
rs2151187481
|
|
|
NM_000057.4(BLM):c.3210+3A>G
|
|
|
|
NM_000057.4(BLM):c.3210+3A>T
|
rs2151187459
|
|
|
NM_000057.4(BLM):c.3210+8A>G
|
|
|
|
NM_000057.4(BLM):c.3210+9del
|
|
|
|
NM_000057.4(BLM):c.3210+9dup
|
rs1233313033
|
|
|
NM_000057.4(BLM):c.3211-14_3211-13del
|
|
|
|
NM_000057.4(BLM):c.3211-2A>G
|
|
|
|
NM_000057.4(BLM):c.3211-3T>C
|
rs1897074828
|
|
|
NM_000057.4(BLM):c.3211-4A>G
|
rs2151190224
|
|
|
NM_000057.4(BLM):c.3211-5C>G
|
|
|
|
NM_000057.4(BLM):c.3211-7T>A
|
|
|
|
NM_000057.4(BLM):c.3211-8A>C
|
rs2151190221
|
|
|
NM_000057.4(BLM):c.3211-8A>G
|
|
|
|
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly)
|
rs1897075069
|
|
|
NM_000057.4(BLM):c.3213T>C (p.Asp1071=)
|
rs2151190236
|
|
|
NM_000057.4(BLM):c.3215A>T (p.Tyr1072Phe)
|
|
|
|
NM_000057.4(BLM):c.3221C>G (p.Thr1074Arg)
|
rs144021705
|
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
|
NM_000057.4(BLM):c.3224G>A (p.Arg1075Lys)
|
rs749559270
|
|
|
NM_000057.4(BLM):c.3227A>T (p.Asp1076Val)
|
rs1897075823
|
|
|
NM_000057.4(BLM):c.3228T>G (p.Asp1076Glu)
|
rs2151190260
|
|
|
NM_000057.4(BLM):c.3229G>T (p.Val1077Leu)
|
rs779096973
|
|
|
NM_000057.4(BLM):c.322T>C (p.Leu108=)
|
rs1596218180
|
|
|
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala)
|
|
|
|
NM_000057.4(BLM):c.3231G>C (p.Val1077=)
|
|
|
|
NM_000057.4(BLM):c.3233C>G (p.Thr1078Ser)
|
rs1897076116
|
|
|
NM_000057.4(BLM):c.3234T>C (p.Thr1078=)
|
rs2151190271
|
|
|
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn)
|
rs771767745
|
|
|
NM_000057.4(BLM):c.3238G>C (p.Asp1080His)
|
rs771767745
|
|
|
NM_000057.4(BLM):c.3239A>C (p.Asp1080Ala)
|
rs775383361
|
|
|
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val)
|
rs775383361
|
|
|
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu)
|
rs762716289
|
|
|
NM_000057.4(BLM):c.3242T>G (p.Val1081Gly)
|
rs762716289
|
|
|
NM_000057.4(BLM):c.3247A>C (p.Ser1083Arg)
|
rs2151190310
|
|
|
NM_000057.4(BLM):c.3249T>C (p.Ser1083=)
|
rs763642876
|
|
|
NM_000057.4(BLM):c.324G>T (p.Leu108Phe)
|
rs1198433222
|
|
|
NM_000057.4(BLM):c.3250A>G (p.Ile1084Val)
|
|
|
|
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu)
|
rs761235042
|
|
|
NM_000057.4(BLM):c.3254T>G (p.Val1085Gly)
|
rs2151190324
|
|
|
NM_000057.4(BLM):c.3259T>C (p.Phe1087Leu)
|
|
|
|
NM_000057.4(BLM):c.325C>T (p.Pro109Ser)
|
|
|
|
NM_000057.4(BLM):c.3260T>G (p.Phe1087Cys)
|
|
|
|
NM_000057.4(BLM):c.3261T>C (p.Phe1087=)
|
|
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
|
NM_000057.4(BLM):c.3262G>A (p.Val1088Ile)
|
rs934966838
|
|
|
NM_000057.4(BLM):c.3262G>C (p.Val1088Leu)
|
rs934966838
|
|
|
NM_000057.4(BLM):c.3262G>T (p.Val1088Phe)
|
rs934966838
|
|
|
NM_000057.4(BLM):c.3263T>C (p.Val1088Ala)
|
|
|
|
NM_000057.4(BLM):c.3265C>G (p.Gln1089Glu)
|
rs1406087403
|
|
|
NM_000057.4(BLM):c.326C>G (p.Pro109Arg)
|
rs1555418317
|
|
|
NM_000057.4(BLM):c.3271C>A (p.His1091Asn)
|
rs766959096
|
|
|
NM_000057.4(BLM):c.3272A>G (p.His1091Arg)
|
rs750954124
|
|
|
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter)
|
rs367543017
|
|
|
NM_000057.4(BLM):c.3279A>G (p.Ser1093=)
|
|
|
|
NM_000057.4(BLM):c.327A>G (p.Pro109=)
|
rs2151147129
|
|
|
NM_000057.4(BLM):c.3281C>T (p.Ser1094Leu)
|
rs1472603091
|
|
|
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg)
|
rs1334208387
|
|
|
NM_000057.4(BLM):c.3287G>A (p.Gly1096Glu)
|
rs893352310
|
|
|
NM_000057.4(BLM):c.3287G>C (p.Gly1096Ala)
|
rs893352310
|
|
|
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val)
|
rs893352310
|
|
|
NM_000057.4(BLM):c.3288A>G (p.Gly1096=)
|
rs1897079440
|
|
|
NM_000057.4(BLM):c.328G>C (p.Asp110His)
|
|
|
|
NM_000057.4(BLM):c.328G>T (p.Asp110Tyr)
|
|
|
|
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys)
|
rs1596263307
|
|
|
NM_000057.4(BLM):c.3298A>C (p.Ile1100Leu)
|
rs1897079693
|
|
|
NM_000057.4(BLM):c.3299T>C (p.Ile1100Thr)
|
|
|
|
NM_000057.4(BLM):c.3299del (p.Ile1100fs)
|
|
|
|
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr)
|
|
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
|
NM_000057.4(BLM):c.3306T>C (p.His1102=)
|
|
|
|
NM_000057.4(BLM):c.3309A>C (p.Val1103=)
|
rs772290769
|
|
|
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)
|
|
|
|
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu)
|
|
|
|
NM_000057.4(BLM):c.3315T>C (p.Pro1105=)
|
rs2151190437
|
|
|
NM_000057.4(BLM):c.3317C>T (p.Ser1106Phe)
|
rs769834593
|
|
|
NM_000057.4(BLM):c.3320G>A (p.Gly1107Glu)
|
|
|
|
NM_000057.4(BLM):c.3324A>G (p.Arg1108=)
|
rs1596263375
|
|
|
NM_000057.4(BLM):c.3324A>T (p.Arg1108Ser)
|
rs1596263375
|
|
|
NM_000057.4(BLM):c.332T>C (p.Phe111Ser)
|
|
|
|
NM_000057.4(BLM):c.3330T>A (p.Thr1110=)
|
|
|
|
NM_000057.4(BLM):c.3332T>C (p.Met1111Thr)
|
|
|
|
NM_000057.4(BLM):c.3334A>G (p.Asn1112Asp)
|
rs1352520577
|
|
|
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser)
|
rs1897081867
|
|
|
NM_000057.4(BLM):c.3336T>A (p.Asn1112Lys)
|
|
|
|
NM_000057.4(BLM):c.333C>T (p.Phe111=)
|
rs1895610686
|
|
|
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)
|
rs1567060305
|
|
|
NM_000057.4(BLM):c.3345C>G (p.Val1115=)
|
rs773893026
|
|
|
NM_000057.4(BLM):c.3346G>A (p.Asp1116Asn)
|
|
|
|
NM_000057.4(BLM):c.3346G>C (p.Asp1116His)
|
rs936749145
|
|
|
NM_000057.4(BLM):c.3347A>T (p.Asp1116Val)
|
|
|
|
NM_000057.4(BLM):c.3352T>G (p.Phe1118Val)
|
rs2151190485
|
|
|
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu)
|
rs1351493073
|
|
|
NM_000057.4(BLM):c.3355T>C (p.Leu1119=)
|
rs201847046
|
|
|
NM_000057.4(BLM):c.3357G>C (p.Leu1119Phe)
|
|
|
|
NM_000057.4(BLM):c.3358+10C>G
|
rs2151190528
|
|
|
NM_000057.4(BLM):c.3358+13T>C
|
|
|
|
NM_000057.4(BLM):c.3358+16T>G
|
rs766854886
|
|
|
NM_000057.4(BLM):c.3358+18A>C
|
|
|
|
NM_000057.4(BLM):c.3358+1G>A
|
|
|
|
NM_000057.4(BLM):c.3358+4A>G
|
rs1897083090
|
|
|
NM_000057.4(BLM):c.3358+5G>C
|
rs2151190518
|
|
|
NM_000057.4(BLM):c.3358+7C>T
|
rs2151190522
|
|
|
NM_000057.4(BLM):c.3358+7_3358+13del
|
rs1555423799
|
|
|
NM_000057.4(BLM):c.3358+9T>C
|
rs1555423800
|
|
|
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg)
|
rs139773499
|
|
|
NM_000057.4(BLM):c.3359-10T>G
|
rs2151194125
|
|
|
NM_000057.4(BLM):c.3359-15G>A
|
rs2151194113
|
|
|
NM_000057.4(BLM):c.3359-16T>G
|
|
|
|
NM_000057.4(BLM):c.3359-18C>T
|
rs2151194105
|
|
|
NM_000057.4(BLM):c.3359-19T>C
|
rs2151194101
|
|
|
NM_000057.4(BLM):c.3359-2A>G
|
|
|
|
NM_000057.4(BLM):c.3359-3C>G
|
rs765552044
|
|
|
NM_000057.4(BLM):c.3359-4T>A
|
rs2151194132
|
|
|
NM_000057.4(BLM):c.3359-5A>G
|
rs1278436608
|
|
|
NM_000057.4(BLM):c.3359-6T>C
|
|
|
|
NM_000057.4(BLM):c.3359-7T>A
|
|
|
|
NM_000057.4(BLM):c.3359-7T>C
|
|
|
|
NM_000057.4(BLM):c.3359-8C>G
|
rs2151194128
|
|
|
NM_000057.4(BLM):c.335T>C (p.Leu112Ser)
|
rs1038386076
|
|
|
NM_000057.4(BLM):c.3360G>A (p.Gly1120=)
|
rs1567062602
|
|
|
NM_000057.4(BLM):c.3360G>T (p.Gly1120=)
|
rs1567062602
|
|
|
NM_000057.4(BLM):c.3362G>A (p.Ser1121Asn)
|
|
|
|
NM_000057.4(BLM):c.3362G>C (p.Ser1121Thr)
|
rs758753168
|
|
|
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile)
|
rs758753168
|
|
|
NM_000057.4(BLM):c.3365A>C (p.Lys1122Thr)
|
rs1175406197
|
|
|
NM_000057.4(BLM):c.3367A>C (p.Ser1123Arg)
|
rs1897212324
|
|
|
NM_000057.4(BLM):c.3367A>T (p.Ser1123Cys)
|
rs1897212324
|
|
|
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs)
|
rs2151194158
|
|
|
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val)
|
rs751765688
|
|
|
NM_000057.4(BLM):c.3372A>G (p.Ala1124=)
|
rs1897212519
|
|
|
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter)
|
rs1897212605
|
|
|
NM_000057.4(BLM):c.3381G>T (p.Gln1127His)
|
rs1596267417
|
|
|
NM_000057.4(BLM):c.3383_3384delinsATATTTGTATACTT (p.Ser1128delinsTyrIleCysIleLeu)
|
rs1596267423
|
|
|
NM_000057.4(BLM):c.3384A>G (p.Ser1128=)
|
rs2151194181
|
|
|
NM_000057.4(BLM):c.3385G>C (p.Gly1129Arg)
|
rs781287681
|
|
|
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp)
|
rs375841213
|
|
|
NM_000057.4(BLM):c.3386G>T (p.Gly1129Val)
|
rs375841213
|
|
|
NM_000057.4(BLM):c.3388A>C (p.Ile1130Leu)
|
|
|
|
NM_000057.4(BLM):c.3388A>G (p.Ile1130Val)
|
rs1897213239
|
|
|
NM_000057.4(BLM):c.3388A>T (p.Ile1130Leu)
|
|
|
|
NM_000057.4(BLM):c.3389T>C (p.Ile1130Thr)
|
|
|
|
NM_000057.4(BLM):c.338A>G (p.Gln113Arg)
|
rs2151147149
|
|
|
NM_000057.4(BLM):c.3390A>G (p.Ile1130Met)
|
|
|
|
NM_000057.4(BLM):c.3394G>C (p.Gly1132Arg)
|
|
|
|
NM_000057.4(BLM):c.3399A>C (p.Lys1133Asn)
|
|
|
|
NM_000057.4(BLM):c.3399A>G (p.Lys1133=)
|
rs2151194213
|
|
|
NM_000057.4(BLM):c.339G>A (p.Gln113=)
|
|
|
|
NM_000057.4(BLM):c.33G>A (p.Glu11=)
|
rs1895533244
|
|
|
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg)
|
rs1057516774
|
|
|
NM_000057.4(BLM):c.3401G>A (p.Gly1134Glu)
|
rs1555424286
|
|
|
NM_000057.4(BLM):c.3404C>A (p.Ser1135Tyr)
|
|
|
|
NM_000057.4(BLM):c.3406_3407delinsTT (p.Ala1136Phe)
|
rs2151194224
|
|
|
NM_000057.4(BLM):c.3411T>C (p.Tyr1137=)
|
|
|
|
NM_000057.4(BLM):c.3412T>G (p.Ser1138Ala)
|
|
|
|
NM_000057.4(BLM):c.3413C>T (p.Ser1138Leu)
|
|
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
|
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr)
|
rs746602812
|
|
|
NM_000057.4(BLM):c.3419A>G (p.His1140Arg)
|
rs1897214323
|
|
|
NM_000057.4(BLM):c.3421A>C (p.Asn1141His)
|
|
|
|
NM_000057.4(BLM):c.3421A>G (p.Asn1141Asp)
|
|
|
|
NM_000057.4(BLM):c.3426C>G (p.Ala1142=)
|
rs147148171
|
|
|
NM_000057.4(BLM):c.342T>C (p.Thr114=)
|
rs746257638
|
|
|
NM_000057.4(BLM):c.3430A>G (p.Arg1144Gly)
|
|
|
|
NM_000057.4(BLM):c.3431G>T (p.Arg1144Ile)
|
rs1897214758
|
|
|
NM_000057.4(BLM):c.3434T>C (p.Leu1145Pro)
|
rs1596267524
|
|
|
NM_000057.4(BLM):c.3436T>C (p.Phe1146Leu)
|
|
|
|
NM_000057.4(BLM):c.3437T>C (p.Phe1146Ser)
|
|
|
|
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
|
|
|
|
NM_000057.4(BLM):c.343C>A (p.Pro115Thr)
|
rs1173491187
|
|
|
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu)
|
rs1596267545
|
|
|
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr)
|
rs1897215421
|
|
|
NM_000057.4(BLM):c.3447G>A (p.Leu1149=)
|
rs1195487968
|
|
|
NM_000057.4(BLM):c.344C>A (p.Pro115Gln)
|
|
|
|
NM_000057.4(BLM):c.3450A>T (p.Ile1150=)
|
|
|
|
NM_000057.4(BLM):c.3456C>A (p.Asp1152Glu)
|
rs1897216087
|
|
|
NM_000057.4(BLM):c.3456C>G (p.Asp1152Glu)
|
rs1897216087
|
|
|
NM_000057.4(BLM):c.3457A>G (p.Lys1153Glu)
|
rs1897216200
|
|
|
NM_000057.4(BLM):c.3458A>T (p.Lys1153Met)
|
rs1897216390
|
|
|
NM_000057.4(BLM):c.345G>C (p.Pro115=)
|
rs374578971
|
|
|
NM_000057.4(BLM):c.3460A>G (p.Ile1154Val)
|
rs2151194288
|
|
|
NM_000057.4(BLM):c.3467A>T (p.Asp1156Val)
|
rs2151194299
|
|
|
NM_000057.4(BLM):c.3467del (p.Asp1156fs)
|
|
|
|
NM_000057.4(BLM):c.3468T>A (p.Asp1156Glu)
|
rs1325465971
|
|
|
NM_000057.4(BLM):c.3472G>A (p.Asp1158Asn)
|
rs1567062737
|
|
|
NM_000057.4(BLM):c.3472G>C (p.Asp1158His)
|
rs1567062737
|
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
|
NM_000057.4(BLM):c.3477A>G (p.Leu1159=)
|
rs2151194319
|
|
|
NM_000057.4(BLM):c.3478T>A (p.Tyr1160Asn)
|
rs752389778
|
|
|
NM_000057.4(BLM):c.3481A>G (p.Ile1161Val)
|
rs1897217586
|
|
|
NM_000057.4(BLM):c.3486T>C (p.Asn1162=)
|
|
|
|
NM_000057.4(BLM):c.3486T>G (p.Asn1162Lys)
|
|
|
|
NM_000057.4(BLM):c.348G>A (p.Lys116=)
|
rs749535664
|
|
|
NM_000057.4(BLM):c.348G>C (p.Lys116Asn)
|
rs749535664
|
|
|
NM_000057.4(BLM):c.3490A>G (p.Asn1164Asp)
|
rs1897217918
|
|
|
NM_000057.4(BLM):c.3495C>G (p.Asp1165Glu)
|
rs767536788
|
|
|
NM_000057.4(BLM):c.3495C>T (p.Asp1165=)
|
|
|
|
NM_000057.4(BLM):c.3496C>G (p.Gln1166Glu)
|
rs1596267627
|
|
|
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)
|
rs1596267627
|
|
|
NM_000057.4(BLM):c.3497A>G (p.Gln1166Arg)
|
|
|
|
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu)
|
rs371774802
|
|
|
NM_000057.4(BLM):c.3498G>A (p.Gln1166=)
|
|
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
|
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly)
|
rs987150263
|
|
|
NM_000057.4(BLM):c.3501G>T (p.Ala1167=)
|
rs752559933
|
|
|
NM_000057.4(BLM):c.3502A>T (p.Ile1168Phe)
|
|
|
|
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr)
|
rs1897218823
|
|
|
NM_000057.4(BLM):c.3504C>A (p.Ile1168=)
|
rs758199564
|
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
|
NM_000057.4(BLM):c.3509A>T (p.Tyr1170Phe)
|
rs746692894
|
|
|
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
|
|
|
|
NM_000057.4(BLM):c.3511G>A (p.Val1171Met)
|
rs770585247
|
|
|
NM_000057.4(BLM):c.3512T>G (p.Val1171Gly)
|
|
|
|
NM_000057.4(BLM):c.3514A>C (p.Met1172Leu)
|
rs745380387
|
|
|
NM_000057.4(BLM):c.3519C>A (p.Leu1173=)
|
|
|
|
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg)
|
rs776156059
|
|
|
NM_000057.4(BLM):c.3521G>A (p.Gly1174Glu)
|
|
|
|
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser)
|
rs1596267710
|
|
|
NM_000057.4(BLM):c.3525T>C (p.Asn1175=)
|
|
|
|
NM_000057.4(BLM):c.3529G>A (p.Ala1177Thr)
|
rs1897220102
|
|
|
NM_000057.4(BLM):c.352G>A (p.Val118Ile)
|
|
|
|
NM_000057.4(BLM):c.3530C>T (p.Ala1177Val)
|
|
|
|
NM_000057.4(BLM):c.3531C>T (p.Ala1177=)
|
rs2227934
|
|
|
NM_000057.4(BLM):c.3533A>C (p.Gln1178Pro)
|
rs1897220395
|
|
|
NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala)
|
rs1344786638
|
|
|
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
|
|
|
|
NM_000057.4(BLM):c.3541C>T (p.Leu1181=)
|
|
|
|
NM_000057.4(BLM):c.3545A>G (p.Asn1182Ser)
|
rs767771169
|
|
|
NM_000057.4(BLM):c.3546T>C (p.Asn1182=)
|
rs1596267753
|
|
|
NM_000057.4(BLM):c.3548G>C (p.Gly1183Ala)
|
|
|
|
NM_000057.4(BLM):c.3549C>A (p.Gly1183=)
|
|
|
|
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp)
|
rs1463025227
|
|
|
NM_000057.4(BLM):c.3550A>T (p.Asn1184Tyr)
|
rs1463025227
|
|
|
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser)
|
rs1596267777
|
|
|
NM_000057.4(BLM):c.3552T>C (p.Asn1184=)
|
|
|
|
NM_000057.4(BLM):c.3554_3559-116del
|
|
|
|
NM_000057.4(BLM):c.3555A>G (p.Leu1185=)
|
|
|
|
NM_000057.4(BLM):c.3557A>G (p.Lys1186Arg)
|
rs1897221872
|
|
|
NM_000057.4(BLM):c.3558+10T>C
|
|
|
|
NM_000057.4(BLM):c.3558+12_3558+13del
|
rs773935119
|
|
|
NM_000057.4(BLM):c.3558+18T>A
|
rs2151194478
|
|
|
NM_000057.4(BLM):c.3558+1G>A
|
rs148969222
|
|
|
NM_000057.4(BLM):c.3558+24_3558+28del
|
rs745676299
|
|
|
NM_000057.4(BLM):c.3558+2T>C
|
rs1897222054
|
|
|
NM_000057.4(BLM):c.3558+5A>G
|
|
|
|
NM_000057.4(BLM):c.3558+6G>A
|
rs2151194465
|
|
|
NM_000057.4(BLM):c.3558+8A>G
|
rs1567062884
|
|
|
NM_000057.4(BLM):c.3558+9T>C
|
|
|
|
NM_000057.4(BLM):c.3559-11C>G
|
|
|
|
NM_000057.4(BLM):c.3559-13C>A
|
rs368473682
|
|
|
NM_000057.4(BLM):c.3559-13C>T
|
|
|
|
NM_000057.4(BLM):c.3559-14TC[3]
|
|
|
|
NM_000057.4(BLM):c.3559-15T>C
|
|
|
|
NM_000057.4(BLM):c.3559-16T>C
|
|
|
|
NM_000057.4(BLM):c.3559-17G>A
|
|
|
|
NM_000057.4(BLM):c.3559-18T>C
|
|
|
|
NM_000057.4(BLM):c.3559-1G>A
|
rs1555424368
|
|
|
NM_000057.4(BLM):c.3559-4A>G
|
rs760756587
|
|
|
NM_000057.4(BLM):c.3559-6A>C
|
rs773492985
|
|
|
NM_000057.4(BLM):c.3559-6A>G
|
rs773492985
|
|
|
NM_000057.4(BLM):c.3559-7C>A
|
rs772254909
|
|
|
NM_000057.4(BLM):c.3559-7C>T
|
rs772254909
|
|
|
NM_000057.4(BLM):c.3559-9C>T
|
|
|
|
NM_000057.4(BLM):c.3559G>C (p.Val1187Leu)
|
rs547814390
|
|
|
NM_000057.4(BLM):c.3560T>C (p.Val1187Ala)
|
|
|
|
NM_000057.4(BLM):c.3561A>T (p.Val1187=)
|
rs762924653
|
|
|
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly)
|
rs899745787
|
|
|
NM_000057.4(BLM):c.3564C>T (p.Asp1188=)
|
|
|
|
NM_000057.4(BLM):c.3564del (p.Phe1189fs)
|
rs1486692931
|
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
|
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs)
|
rs1567063125
|
|
|
NM_000057.4(BLM):c.3574A>C (p.Thr1192Pro)
|
|
|
|
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
|
|
|
|
NM_000057.4(BLM):c.357A>G (p.Val119=)
|
|
|
|
NM_000057.4(BLM):c.357A>T (p.Val119=)
|
rs1279217509
|
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
|
NM_000057.4(BLM):c.3580A>G (p.Asn1194Asp)
|
|
|
|
NM_000057.4(BLM):c.3582T>A (p.Asn1194Lys)
|
|
|
|
NM_000057.4(BLM):c.3584C>G (p.Ser1195Cys)
|
|
|
|
NM_000057.4(BLM):c.3586A>C (p.Ser1196Arg)
|
|
|
|
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys)
|
rs1596268133
|
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
|
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
|
|
|
|
NM_000057.4(BLM):c.3591T>C (p.Ser1197=)
|
rs1596268143
|
|
|
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala)
|
|
|
|
NM_000057.4(BLM):c.3601_3603del (p.Gln1201del)
|
|
|
|
NM_000057.4(BLM):c.3603A>G (p.Gln1201=)
|
rs2151194830
|
|
|
NM_000057.4(BLM):c.3604A>G (p.Lys1202Glu)
|
rs1897233454
|
|
|
NM_000057.4(BLM):c.3606A>C (p.Lys1202Asn)
|
rs1897233523
|
|
|
NM_000057.4(BLM):c.3606A>G (p.Lys1202=)
|
|
|
|
NM_000057.4(BLM):c.3608C>G (p.Ala1203Gly)
|
rs757088548
|
|
|
NM_000057.4(BLM):c.3609G>C (p.Ala1203=)
|
rs151114049
|
|
|
NM_000057.4(BLM):c.3611T>C (p.Leu1204Ser)
|
|
|
|
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
|
|
|
|
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
|
|
|
|
NM_000057.4(BLM):c.3613G>C (p.Val1205Leu)
|
rs28385141
|
|
|
NM_000057.4(BLM):c.3616G>A (p.Ala1206Thr)
|
rs1897234089
|
|
|
NM_000057.4(BLM):c.3616del (p.Ala1206fs)
|
rs2151194859
|
|
|
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu)
|
rs1319362226
|
|
|
NM_000057.4(BLM):c.3618A>C (p.Ala1206=)
|
rs1384318181
|
|
|
NM_000057.4(BLM):c.3618A>G (p.Ala1206=)
|
|
|
|
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)
|
|
|
|
NM_000057.4(BLM):c.3622G>A (p.Val1208Met)
|
|
|
|
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
|
|
|
|
NM_000057.4(BLM):c.362C>G (p.Thr121Ser)
|
rs1567035318
|
|
|
NM_000057.4(BLM):c.3634G>C (p.Glu1212Gln)
|
rs1897234496
|
|
|
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter)
|
rs1897234496
|
|
|
NM_000057.4(BLM):c.3636A>G (p.Glu1212=)
|
rs1897234564
|
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
|
NM_000057.4(BLM):c.3639G>A (p.Glu1213=)
|
|
|
|
NM_000057.4(BLM):c.3640A>T (p.Met1214Leu)
|
rs2151194887
|
|
|
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr)
|
rs1596268211
|
|
|
NM_000057.4(BLM):c.3643G>T (p.Val1215Phe)
|
|
|
|
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)
|
rs2151194897
|
|
|
NM_000057.4(BLM):c.3647A>C (p.Lys1216Thr)
|
rs748798772
|
|
|
NM_000057.4(BLM):c.3647A>G (p.Lys1216Arg)
|
|
|
|
NM_000057.4(BLM):c.3651A>G (p.Lys1217=)
|
rs587779887
|
|
|
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn)
|
rs587779887
|
|
|
NM_000057.4(BLM):c.3654T>C (p.Cys1218=)
|
rs2151194910
|
|
|
NM_000057.4(BLM):c.3657T>C (p.Leu1219=)
|
|
|
|
NM_000057.4(BLM):c.3658G>A (p.Gly1220Arg)
|
rs1567063212
|
|
|
NM_000057.4(BLM):c.3659G>A (p.Gly1220Glu)
|
|
|
|
NM_000057.4(BLM):c.3659G>C (p.Gly1220Ala)
|
rs1897235538
|
|
|
NM_000057.4(BLM):c.3663A>G (p.Glu1221=)
|
|
|
|
NM_000057.4(BLM):c.3666T>A (p.Leu1222=)
|
rs1301144106
|
|
|
NM_000057.4(BLM):c.3668C>G (p.Thr1223Arg)
|
rs772506214
|
|
|
NM_000057.4(BLM):c.3668C>T (p.Thr1223Ile)
|
rs772506214
|
|
|
NM_000057.4(BLM):c.3671A>C (p.Glu1224Ala)
|
rs1596268259
|
|
|
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)
|
rs1897236255
|
|
|
NM_000057.4(BLM):c.3681dup (p.Ser1228fs)
|
rs367543020
|
|
|
NM_000057.4(BLM):c.3683C>A (p.Ser1228Tyr)
|
rs1897236482
|
|
|
NM_000057.4(BLM):c.3683C>G (p.Ser1228Cys)
|
rs1897236482
|
|
|
NM_000057.4(BLM):c.3683C>T (p.Ser1228Phe)
|
|
|
|
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val)
|
rs1555424395
|
|
|
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
|
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile)
|
rs1897236925
|
|
|
NM_000057.4(BLM):c.369A>G (p.Gln123=)
|
rs1895612419
|
|
|
NM_000057.4(BLM):c.3700G>A (p.Gly1234Ser)
|
|
|
|
NM_000057.4(BLM):c.3701G>A (p.Gly1234Asp)
|
|
|
|
NM_000057.4(BLM):c.3702T>C (p.Gly1234=)
|
rs2151194969
|
|
|
NM_000057.4(BLM):c.3707A>G (p.His1236Arg)
|
|
|
|
NM_000057.4(BLM):c.370A>C (p.Asn124His)
|
rs2151147208
|
|
|
NM_000057.4(BLM):c.3717T>C (p.Asn1239=)
|
|
|
|
NM_000057.4(BLM):c.3726T>C (p.Asn1242=)
|
rs1567063258
|
|
|
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile)
|
rs1249106324
|
|
|
NM_000057.4(BLM):c.3730G>T (p.Val1244Phe)
|
rs1249106324
|
|
|
NM_000057.4(BLM):c.3731T>C (p.Val1244Ala)
|
rs771117920
|
|
|
NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser)
|
rs1555424403
|
|
|
NM_000057.4(BLM):c.3735T>A (p.Thr1245=)
|
|
|
|
NM_000057.4(BLM):c.3735T>G (p.Thr1245=)
|
|
|
|
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs)
|
rs1897238597
|
|
|
NM_000057.4(BLM):c.373A>G (p.Thr125Ala)
|
rs1895612811
|
|
|
NM_000057.4(BLM):c.3740A>G (p.Lys1247Arg)
|
|
|
|
NM_000057.4(BLM):c.3741G>A (p.Lys1247=)
|
rs2151195000
|
|
|
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met)
|
rs1555424404
|
|
|
NM_000057.4(BLM):c.3744G>A (p.Lys1248=)
|
rs1596268347
|
|
|
NM_000057.4(BLM):c.3744G>C (p.Lys1248Asn)
|
|
|
|
NM_000057.4(BLM):c.3747T>A (p.Leu1249=)
|
rs776748831
|
|
|
NM_000057.4(BLM):c.3748G>A (p.Ala1250Thr)
|
|
|
|
NM_000057.4(BLM):c.3749C>G (p.Ala1250Gly)
|
|
|
|
NM_000057.4(BLM):c.3750A>G (p.Ala1250=)
|
rs2151195022
|
|
|
NM_000057.4(BLM):c.3751+10C>A
|
rs199685140
|
|
|
NM_000057.4(BLM):c.3751+10C>G
|
rs199685140
|
|
|
NM_000057.4(BLM):c.3751+11A>G
|
rs1275107089
|
|
|
NM_000057.4(BLM):c.3751+11del
|
|
|
|
NM_000057.4(BLM):c.3751+12T>C
|
|
|
|
NM_000057.4(BLM):c.3751+13G>T
|
rs2151195051
|
|
|
NM_000057.4(BLM):c.3751+14T>C
|
rs2151195056
|
|
|
NM_000057.4(BLM):c.3751+15A>G
|
|
|
|
NM_000057.4(BLM):c.3751+17C>T
|
|
|
|
NM_000057.4(BLM):c.3751+18C>G
|
rs2151195059
|
|
|
NM_000057.4(BLM):c.3751+18C>T
|
|
|
|
NM_000057.4(BLM):c.3751+1G>A
|
rs1897239335
|
|
|
NM_000057.4(BLM):c.3751+21del
|
|
|
|
NM_000057.4(BLM):c.3751+2T>C
|
rs1897239414
|
|
|
NM_000057.4(BLM):c.3751+3G>A
|
|
|
|
NM_000057.4(BLM):c.3751+7dup
|
|
|
|
NM_000057.4(BLM):c.3751+8C>T
|
rs765243972
|
|
|
NM_000057.4(BLM):c.3751G>A (p.Glu1251Lys)
|
rs587779888
|
|
|
NM_000057.4(BLM):c.3752-10C>T
|
|
|
|
NM_000057.4(BLM):c.3752-12G>T
|
|
|
|
NM_000057.4(BLM):c.3752-14A>G
|
|
|
|
NM_000057.4(BLM):c.3752-14A>T
|
rs1897346689
|
|
|
NM_000057.4(BLM):c.3752-15T>G
|
|
|
|
NM_000057.4(BLM):c.3752-15del
|
|
|
|
NM_000057.4(BLM):c.3752-18T>C
|
rs1897346458
|
|
|
NM_000057.4(BLM):c.3752-3C>T
|
|
|
|
NM_000057.4(BLM):c.3752-4A>G
|
rs1489122577
|
|
|
NM_000057.4(BLM):c.3752-5C>A
|
|
|
|
NM_000057.4(BLM):c.3752-5C>T
|
rs2151198253
|
|
|
NM_000057.4(BLM):c.3752-7T>G
|
rs1897346976
|
|
|
NM_000057.4(BLM):c.3752-8T>C
|
rs1897346891
|
|
|
NM_000057.4(BLM):c.3752-9T>C
|
|
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
|
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs)
|
rs2151198261
|
|
|
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val)
|
rs1249288071
|
|
|
NM_000057.4(BLM):c.3758T>C (p.Leu1253Ser)
|
rs2151198266
|
|
|
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter)
|
rs2151198266
|
|
|
NM_000057.4(BLM):c.3759A>G (p.Leu1253=)
|
rs1596271761
|
|
|
NM_000057.4(BLM):c.375_376del (p.Pro126fs)
|
rs1895612617
|
|
|
NM_000057.4(BLM):c.3760T>C (p.Ser1254Pro)
|
|
|
|
NM_000057.4(BLM):c.3764C>G (p.Ser1255Cys)
|
rs1897347737
|
|
|
NM_000057.4(BLM):c.3764C>T (p.Ser1255Phe)
|
rs1897347737
|
|
|
NM_000057.4(BLM):c.3768T>C (p.Asp1256=)
|
rs2151198276
|
|
|
NM_000057.4(BLM):c.3769C>G (p.Pro1257Ala)
|
rs144964365
|
|
|
NM_000057.4(BLM):c.376C>G (p.Pro126Ala)
|
rs587778106
|
|
|
NM_000057.4(BLM):c.376C>T (p.Pro126Ser)
|
rs587778106
|
|
|
NM_000057.4(BLM):c.3774G>A (p.Glu1258=)
|
rs1596271783
|
|
|
NM_000057.4(BLM):c.3774G>C (p.Glu1258Asp)
|
rs1596271783
|
|
|
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile)
|
rs1897348236
|
|
|
NM_000057.4(BLM):c.3777T>A (p.Val1259=)
|
rs2151198287
|
|
|
NM_000057.4(BLM):c.3778T>C (p.Leu1260=)
|
rs2151198289
|
|
|
NM_000057.4(BLM):c.3778T>G (p.Leu1260Val)
|
rs2151198289
|
|
|
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
|
|
|
|
NM_000057.4(BLM):c.377C>G (p.Pro126Arg)
|
rs1060500650
|
|
|
NM_000057.4(BLM):c.3781C>T (p.Leu1261Phe)
|
rs1567065644
|
|
|
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)
|
|
|
|
NM_000057.4(BLM):c.3785A>G (p.Gln1262Arg)
|
|
|
|
NM_000057.4(BLM):c.3786A>G (p.Gln1262=)
|
rs1567065650
|
|
|
NM_000057.4(BLM):c.378A>G (p.Pro126=)
|
|
|
|
NM_000057.4(BLM):c.3798T>C (p.Val1266=)
|
|
|
|
NM_000057.4(BLM):c.379A>G (p.Thr127Ala)
|
rs528474170
|
|
|
NM_000057.4(BLM):c.379A>T (p.Thr127Ser)
|
|
|
|
NM_000057.4(BLM):c.3801T>G (p.Thr1267=)
|
|
|
|
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val)
|
rs1897348799
|
|
|
NM_000057.4(BLM):c.380C>T (p.Thr127Ile)
|
rs1895613545
|
|
|
NM_000057.4(BLM):c.3810A>G (p.Lys1270=)
|
|
|
|
NM_000057.4(BLM):c.3826G>A (p.Ala1276Thr)
|
rs1567065690
|
|
|
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu)
|
rs760554566
|
|
|
NM_000057.4(BLM):c.382G>A (p.Val128Ile)
|
rs1269873284
|
|
|
NM_000057.4(BLM):c.3831A>G (p.Glu1277=)
|
rs2151198335
|
|
|
NM_000057.4(BLM):c.3834G>C (p.Val1278=)
|
rs2151198344
|
|
|
NM_000057.4(BLM):c.3834G>T (p.Val1278=)
|
|
|
|
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
|
|
|
|
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile)
|
rs1018540956
|
|
|
NM_000057.4(BLM):c.3841G>T (p.Val1281Leu)
|
|
|
|
NM_000057.4(BLM):c.3843A>G (p.Val1281=)
|
rs764839828
|
|
|
NM_000057.4(BLM):c.3844T>C (p.Leu1282=)
|
|
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
|
NM_000057.4(BLM):c.384A>G (p.Val128=)
|
rs2151147254
|
|
|
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs)
|
rs2151198369
|
|
|
NM_000057.4(BLM):c.3855C>T (p.Tyr1285=)
|
rs1057516728
|
|
|
NM_000057.4(BLM):c.3856T>C (p.Ser1286Pro)
|
rs1897350617
|
|
|
NM_000057.4(BLM):c.3856T>G (p.Ser1286Ala)
|
|
|
|
NM_000057.4(BLM):c.3857C>A (p.Ser1286Tyr)
|
|
|
|
NM_000057.4(BLM):c.3857C>G (p.Ser1286Cys)
|
rs1423327905
|
|
|
NM_000057.4(BLM):c.3859G>C (p.Glu1287Gln)
|
|
|
|
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs)
|
rs2151198382
|
|
|
NM_000057.4(BLM):c.3861A>G (p.Glu1287=)
|
rs977539638
|
|
|
NM_000057.4(BLM):c.3862T>C (p.Trp1288Arg)
|
rs1897350898
|
|
|
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)
|
rs2151198389
|
|
|
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)
|
rs2151198391
|
|
|
NM_000057.4(BLM):c.3869del (p.Ser1290fs)
|
rs2151198402
|
|
|
NM_000057.4(BLM):c.3870G>A (p.Ser1290=)
|
rs1250145765
|
|
|
NM_000057.4(BLM):c.3870G>T (p.Ser1290=)
|
|
|
|
NM_000057.4(BLM):c.3871C>A (p.Pro1291Thr)
|
rs1234718913
|
|
|
NM_000057.4(BLM):c.3874+10C>A
|
|
|
|
NM_000057.4(BLM):c.3874+10C>T
|
rs746130539
|
|
|
NM_000057.4(BLM):c.3874+11del
|
|
|
|
NM_000057.4(BLM):c.3874+13C>G
|
|
|
|
NM_000057.4(BLM):c.3874+13C>T
|
rs1415763304
|
|
|
NM_000057.4(BLM):c.3874+15A>G
|
|
|
|
NM_000057.4(BLM):c.3874+16T>C
|
|
|
|
NM_000057.4(BLM):c.3874+16TG[2]
|
rs2151198446
|
|
|
NM_000057.4(BLM):c.3874+17G>T
|
rs773040544
|
|
|
NM_000057.4(BLM):c.3874+1G>A
|
|
|
|
NM_000057.4(BLM):c.3874+20T>A
|
|
|
|
NM_000057.4(BLM):c.3874+2T>C
|
rs1555424890
|
|
|
NM_000057.4(BLM):c.3874+3T>C
|
rs2151198427
|
|
|
NM_000057.4(BLM):c.3875-14T>C
|
rs1897405940
|
|
|
NM_000057.4(BLM):c.3875-19C>A
|
rs746113158
|
|
|
NM_000057.4(BLM):c.3875-1G>A
|
rs2151199690
|
|
|
NM_000057.4(BLM):c.3875-20T>A
|
|
|
|
NM_000057.4(BLM):c.3875-2A>T
|
rs150421256
|
|
|
NM_000057.4(BLM):c.3875-5T>C
|
rs1596273395
|
|
|
NM_000057.4(BLM):c.3875-7T>C
|
rs2151199681
|
|
|
NM_000057.4(BLM):c.3875-8A>C
|
rs1897406255
|
|
|
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp)
|
rs1567066745
|
|
|
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)
|
rs1596273405
|
|
|
NM_000057.4(BLM):c.387G>T (p.Lys129Asn)
|
rs2151147257
|
|
|
NM_000057.4(BLM):c.387_389del (p.Lys130del)
|
rs587778105
|
|
|
NM_000057.4(BLM):c.3880G>A (p.Asp1294Asn)
|
rs560132774
|
|
|
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr)
|
rs560132774
|
|
|
NM_000057.4(BLM):c.3882C>T (p.Asp1294=)
|
|
|
|
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly)
|
|
|
|
NM_000057.4(BLM):c.3885T>C (p.Ser1295=)
|
|
|
|
NM_000057.4(BLM):c.3887C>T (p.Ser1296Phe)
|
rs2151199713
|
|
|
NM_000057.4(BLM):c.3888C>A (p.Ser1296=)
|
rs2151199719
|
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
|
NM_000057.4(BLM):c.3894G>A (p.Gly1298=)
|
|
|
|
NM_000057.4(BLM):c.3894G>C (p.Gly1298=)
|
rs1596273453
|
|
|
NM_000057.4(BLM):c.3897A>C (p.Ile1299=)
|
|
|
|
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met)
|
rs1596273455
|
|
|
NM_000057.4(BLM):c.3899G>A (p.Ser1300Asn)
|
rs1897407938
|
|
|
NM_000057.4(BLM):c.3899G>C (p.Ser1300Thr)
|
|
|
|
NM_000057.4(BLM):c.3900C>G (p.Ser1300Arg)
|
rs769564626
|
|
|
NM_000057.4(BLM):c.3900C>T (p.Ser1300=)
|
rs769564626
|
|
|
NM_000057.4(BLM):c.3901C>T (p.Leu1301=)
|
|
|
|
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe)
|
rs1897408433
|
|
|
NM_000057.4(BLM):c.3906C>A (p.Ser1302=)
|
rs2151199747
|
|
|
NM_000057.4(BLM):c.3906C>T (p.Ser1302=)
|
|
|
|
NM_000057.4(BLM):c.3909C>A (p.Ser1303Arg)
|
rs1897408551
|
|
|
NM_000057.4(BLM):c.3909C>T (p.Ser1303=)
|
rs1897408551
|
|
|
NM_000057.4(BLM):c.390del (p.Lys130fs)
|
rs2151147261
|
|
|
NM_000057.4(BLM):c.3912C>T (p.Ser1304=)
|
|
|
|
NM_000057.4(BLM):c.3917G>A (p.Gly1306Asp)
|
rs2151199760
|
|
|
NM_000057.4(BLM):c.3918C>T (p.Gly1306=)
|
rs1393792078
|
|
|
NM_000057.4(BLM):c.3921C>G (p.Pro1307=)
|
|
|
|
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg)
|
rs768010078
|
|
|
NM_000057.4(BLM):c.3923G>C (p.Gly1308Ala)
|
|
|
|
NM_000057.4(BLM):c.3928A>C (p.Ser1310Arg)
|
|
|
|
NM_000057.4(BLM):c.392C>T (p.Ser131Phe)
|
|
|
|
NM_000057.4(BLM):c.3930T>A (p.Ser1310Arg)
|
|
|
|
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg)
|
rs886051552
|
|
|
NM_000057.4(BLM):c.3935C>T (p.Ala1312Val)
|
rs2151199800
|
|
|
NM_000057.4(BLM):c.3936T>A (p.Ala1312=)
|
rs1034211979
|
|
|
NM_000057.4(BLM):c.3936T>C (p.Ala1312=)
|
rs1034211979
|
|
|
NM_000057.4(BLM):c.3936T>G (p.Ala1312=)
|
|
|
|
NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala)
|
rs754033839
|
|
|
NM_000057.4(BLM):c.3939G>A (p.Glu1313=)
|
rs2151199812
|
|
|
NM_000057.4(BLM):c.393C>T (p.Ser131=)
|
rs1596218349
|
|
|
NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe)
|
rs959925706
|
|
|
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro)
|
rs1567066844
|
|
|
NM_000057.4(BLM):c.3945C>G (p.Leu1315=)
|
|
|
|
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn)
|
rs779179608
|
|
|
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu)
|
rs375896520
|
|
|
NM_000057.4(BLM):c.3948C>T (p.Asp1316=)
|
rs375896520
|
|
|
NM_000057.4(BLM):c.3952G>A (p.Glu1318Lys)
|
|
|
|
NM_000057.4(BLM):c.3953A>G (p.Glu1318Gly)
|
rs2151199835
|
|
|
NM_000057.4(BLM):c.3955A>G (p.Ile1319Val)
|
|
|
|
NM_000057.4(BLM):c.3956del (p.Ile1319fs)
|
rs1555425080
|
|
|
NM_000057.4(BLM):c.3957A>T (p.Ile1319=)
|
rs1555425082
|
|
|
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr)
|
rs1596273579
|
|
|
NM_000057.4(BLM):c.3958C>T (p.Pro1320Ser)
|
|
|
|
NM_000057.4(BLM):c.3959C>A (p.Pro1320His)
|
rs2151199849
|
|
|
NM_000057.4(BLM):c.3960C>G (p.Pro1320=)
|
|
|
|
NM_000057.4(BLM):c.3960dup (p.Val1321fs)
|
rs1567066891
|
|
|
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu)
|
rs7167216
|
|
|
NM_000057.4(BLM):c.3961G>T (p.Val1321Leu)
|
|
|
|
NM_000057.4(BLM):c.3963A>G (p.Val1321=)
|
rs1325601639
|
|
|
NM_000057.4(BLM):c.3965C>T (p.Ser1322Phe)
|
rs1362006078
|
|
|
NM_000057.4(BLM):c.396G>A (p.Arg132=)
|
rs2151147285
|
|
|
NM_000057.4(BLM):c.3978T>C (p.Phe1326=)
|
rs1265868495
|
|
|
NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr)
|
|
|
|
NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser)
|
rs2151199875
|
|
|
NM_000057.4(BLM):c.397G>T (p.Asp133Tyr)
|
rs762621627
|
|
|
NM_000057.4(BLM):c.3983G>A (p.Ser1328Asn)
|
|
|
|
NM_000057.4(BLM):c.398A>G (p.Asp133Gly)
|
rs1895614433
|
|
|
NM_000057.4(BLM):c.3990C>G (p.Thr1330=)
|
rs2151199889
|
|
|
NM_000057.4(BLM):c.3990C>T (p.Thr1330=)
|
rs2151199889
|
|
|
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
|
|
|
|
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys)
|
rs1060500648
|
|
|
NM_000057.4(BLM):c.3992G>C (p.Arg1331Thr)
|
|
|
|
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)
|
|
|
|
NM_000057.4(BLM):c.3995A>T (p.Asn1332Ile)
|
|
|
|
NM_000057.4(BLM):c.399T>C (p.Asp133=)
|
|
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
|
NM_000057.4(BLM):c.4002G>A (p.Arg1334=)
|
|
|
|
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
|
|
|
|
NM_000057.4(BLM):c.4005G>A (p.Lys1335=)
|
rs1449845656
|
|
|
NM_000057.4(BLM):c.4006A>G (p.Arg1336Gly)
|
rs1897414526
|
|
|
NM_000057.4(BLM):c.4009A>G (p.Lys1337Glu)
|
rs2151199902
|
|
|
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
|
|
|
|
NM_000057.4(BLM):c.4014G>C (p.Lys1338Asn)
|
|
|
|
NM_000057.4(BLM):c.4016T>G (p.Met1339Arg)
|
rs761320085
|
|
|
NM_000057.4(BLM):c.4017G>A (p.Met1339Ile)
|
|
|
|
NM_000057.4(BLM):c.4021G>T (p.Ala1341Ser)
|
rs1596273669
|
|
|
NM_000057.4(BLM):c.4023C>A (p.Ala1341=)
|
rs1596273681
|
|
|
NM_000057.4(BLM):c.4026C>T (p.Ser1342=)
|
rs766689783
|
|
|
NM_000057.4(BLM):c.4027C>G (p.Gln1343Glu)
|
|
|
|
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter)
|
rs2151199939
|
|
|
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg)
|
rs2151199942
|
|
|
NM_000057.4(BLM):c.4029A>G (p.Gln1343=)
|
rs1596273696
|
|
|
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg)
|
rs1596273706
|
|
|
NM_000057.4(BLM):c.4038G>A (p.Lys1346=)
|
rs2151199967
|
|
|
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly)
|
rs1596273711
|
|
|
NM_000057.4(BLM):c.403G>A (p.Ala135Thr)
|
|
|
|
NM_000057.4(BLM):c.403G>C (p.Ala135Pro)
|
rs373832397
|
|
|
NM_000057.4(BLM):c.4041G>A (p.Arg1347=)
|
|
|
|
NM_000057.4(BLM):c.4049C>G (p.Thr1350Ser)
|
|
|
|
NM_000057.4(BLM):c.4050T>C (p.Thr1350=)
|
|
|
|
NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly)
|
|
|
|
NM_000057.4(BLM):c.4058G>A (p.Ser1353Asn)
|
rs1897417072
|
|
|
NM_000057.4(BLM):c.4060_4062del (p.Gly1354del)
|
rs2151200003
|
|
|
NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp)
|
rs891751726
|
|
|
NM_000057.4(BLM):c.4061G>T (p.Gly1354Val)
|
rs891751726
|
|
|
NM_000057.4(BLM):c.4064C>T (p.Ser1355Phe)
|
|
|
|
NM_000057.4(BLM):c.4068G>A (p.Lys1356=)
|
rs587779890
|
|
|
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn)
|
rs587779890
|
|
|
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro)
|
rs587778103
|
|
|
NM_000057.4(BLM):c.406C>T (p.Leu136Phe)
|
|
|
|
NM_000057.4(BLM):c.4074G>A (p.Lys1358=)
|
|
|
|
NM_000057.4(BLM):c.4076+10G>A
|
rs376445417
|
|
|
NM_000057.4(BLM):c.4076+10G>C
|
rs376445417
|
|
|
NM_000057.4(BLM):c.4076+15A>G
|
rs1897418799
|
|
|
NM_000057.4(BLM):c.4076+17C>A
|
rs2151200054
|
|
|
NM_000057.4(BLM):c.4076+17C>G
|
|
|
|
NM_000057.4(BLM):c.4076+19T>C
|
|
|
|
NM_000057.4(BLM):c.4076+1G>C
|
rs752899566
|
|
|
NM_000057.4(BLM):c.4076+1G>T
|
rs752899566
|
|
|
NM_000057.4(BLM):c.4076+1del
|
rs763072825
|
|
|
NM_000057.4(BLM):c.4076+4T>A
|
|
|
|
NM_000057.4(BLM):c.4076+4T>C
|
rs183176301
|
|
|
NM_000057.4(BLM):c.4076+6T>A
|
|
|
|
NM_000057.4(BLM):c.4076+9T>C
|
rs1272366101
|
|
|
NM_000057.4(BLM):c.4077-11T>C
|
|
|
|
NM_000057.4(BLM):c.4077-13dup
|
|
|
|
NM_000057.4(BLM):c.4077-17T>C
|
|
|
|
NM_000057.4(BLM):c.4077-2del
|
|
|
|
NM_000057.4(BLM):c.4077-6T>A
|
|
|
|
NM_000057.4(BLM):c.4077-8C>G
|
|
|
|
NM_000057.4(BLM):c.4077-8C>T
|
rs2151202218
|
|
|
NM_000057.4(BLM):c.4077-9A>G
|
|
|
|
NM_000057.4(BLM):c.4078G>A (p.Gly1360Arg)
|
rs1897524090
|
|
|
NM_000057.4(BLM):c.4079G>A (p.Gly1360Glu)
|
rs1258712808
|
|
|
NM_000057.4(BLM):c.4080G>T (p.Gly1360=)
|
|
|
|
NM_000057.4(BLM):c.4081T>C (p.Ser1361Pro)
|
|
|
|
NM_000057.4(BLM):c.4085C>G (p.Ala1362Gly)
|
rs2151202232
|
|
|
NM_000057.4(BLM):c.4089A>G (p.Thr1363=)
|
rs2151202237
|
|
|
NM_000057.4(BLM):c.4089A>T (p.Thr1363=)
|
rs2151202237
|
|
|
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg)
|
rs1596276396
|
|
|
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr)
|
|
|
|
NM_000057.4(BLM):c.4098G>A (p.Lys1366=)
|
|
|
|
NM_000057.4(BLM):c.4099A>G (p.Ile1367Val)
|
|
|
|
NM_000057.4(BLM):c.40G>A (p.Glu14Lys)
|
|
|
|
NM_000057.4(BLM):c.4101A>G (p.Ile1367Met)
|
rs1897525152
|
|
|
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro)
|
rs587778104
|
|
|
NM_000057.4(BLM):c.4104T>G (p.Ser1368=)
|
rs2151202259
|
|
|
NM_000057.4(BLM):c.4107C>T (p.Ser1369=)
|
|
|
|
NM_000057.4(BLM):c.4110A>G (p.Lys1370=)
|
rs1555425406
|
|
|
NM_000057.4(BLM):c.4113G>T (p.Thr1371=)
|
rs61754135
|
|
|
NM_000057.4(BLM):c.4116A>G (p.Lys1372=)
|
rs753664070
|
|
|
NM_000057.4(BLM):c.4118C>A (p.Ser1373Tyr)
|
|
|
|
NM_000057.4(BLM):c.4119C>T (p.Ser1373=)
|
rs1210181566
|
|
|
NM_000057.4(BLM):c.411G>A (p.Lys137=)
|
|
|
|
NM_000057.4(BLM):c.411_413del (p.Lys138del)
|
rs1895614861
|
|
|
NM_000057.4(BLM):c.4121C>T (p.Ser1374Phe)
|
rs1897526347
|
|
|
NM_000057.4(BLM):c.4122C>T (p.Ser1374=)
|
rs145277875
|
|
|
NM_000057.4(BLM):c.4123A>G (p.Ser1375Gly)
|
rs1897526575
|
|
|
NM_000057.4(BLM):c.4123del (p.Ser1375fs)
|
rs1555425410
|
|
|
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn)
|
rs139115275
|
|
|
NM_000057.4(BLM):c.4124G>T (p.Ser1375Ile)
|
|
|
|
NM_000057.4(BLM):c.4125C>T (p.Ser1375=)
|
|
|
|
NM_000057.4(BLM):c.4131T>C (p.Ile1377=)
|
|
|
|
NM_000057.4(BLM):c.4134A>T (p.Gly1378=)
|
rs2151202294
|
|
|
NM_000057.4(BLM):c.4136C>T (p.Ser1379Phe)
|
|
|
|
NM_000057.4(BLM):c.4138A>G (p.Ser1380Gly)
|
|
|
|
NM_000057.4(BLM):c.4139G>A (p.Ser1380Asn)
|
rs2151202301
|
|
|
NM_000057.4(BLM):c.413A>G (p.Lys138Arg)
|
rs1895615140
|
|
|
NM_000057.4(BLM):c.4140T>C (p.Ser1380=)
|
rs747834576
|
|
|
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu)
|
rs1277229461
|
|
|
NM_000057.4(BLM):c.4146C>T (p.Ala1382=)
|
|
|
|
NM_000057.4(BLM):c.4150C>T (p.His1384Tyr)
|
|
|
|
NM_000057.4(BLM):c.4151A>T (p.His1384Leu)
|
|
|
|
NM_000057.4(BLM):c.4152T>A (p.His1384Gln)
|
rs1897528380
|
|
|
NM_000057.4(BLM):c.4153A>G (p.Thr1385Ala)
|
rs1382270916
|
|
|
NM_000057.4(BLM):c.4155T>C (p.Thr1385=)
|
|
|
|
NM_000057.4(BLM):c.4158T>A (p.Ser1386=)
|
rs746522338
|
|
|
NM_000057.4(BLM):c.4162G>A (p.Ala1388Thr)
|
rs1567068979
|
|
|
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro)
|
rs1567068979
|
|
|
NM_000057.4(BLM):c.4163C>G (p.Ala1388Gly)
|
rs1567068992
|
|
|
NM_000057.4(BLM):c.4163C>T (p.Ala1388Val)
|
rs1567068992
|
|
|
NM_000057.4(BLM):c.4164G>A (p.Ala1388=)
|
rs1429829646
|
|
|
NM_000057.4(BLM):c.4164G>C (p.Ala1388=)
|
|
|
|
NM_000057.4(BLM):c.4164G>T (p.Ala1388=)
|
rs1429829646
|
|
|
NM_000057.4(BLM):c.4167A>C (p.Thr1389=)
|
rs2151202360
|
|
|
NM_000057.4(BLM):c.416T>C (p.Leu139Ser)
|
rs1596218397
|
|
|
NM_000057.4(BLM):c.4170A>G (p.Ser1390=)
|
|
|
|
NM_000057.4(BLM):c.4171G>A (p.Gly1391Arg)
|
rs2151202363
|
|
|
NM_000057.4(BLM):c.4172G>A (p.Gly1391Glu)
|
|
|
|
NM_000057.4(BLM):c.4175C>G (p.Ala1392Gly)
|
rs1397394866
|
|
|
NM_000057.4(BLM):c.4176C>T (p.Ala1392=)
|
|
|
|
NM_000057.4(BLM):c.4177A>C (p.Asn1393His)
|
|
|
|
NM_000057.4(BLM):c.4178A>G (p.Asn1393Ser)
|
rs1897529855
|
|
|
NM_000057.4(BLM):c.4179T>C (p.Asn1393=)
|
rs1596276561
|
|
|
NM_000057.4(BLM):c.4181G>A (p.Ser1394Asn)
|
rs2151202380
|
|
|
NM_000057.4(BLM):c.4191G>A (p.Gly1397=)
|
rs1596276580
|
|
|
NM_000057.4(BLM):c.4193T>C (p.Ile1398Thr)
|
rs2151202391
|
|
|
NM_000057.4(BLM):c.4200T>C (p.Ala1400=)
|
rs1596276585
|
|
|
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala)
|
|
|
|
NM_000057.4(BLM):c.4209G>A (p.Lys1403=)
|
rs1254277623
|
|
|
NM_000057.4(BLM):c.420A>G (p.Glu140=)
|
rs1895615618
|
|
|
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser)
|
rs1567069054
|
|
|
NM_000057.4(BLM):c.4211C>T (p.Pro1404Leu)
|
|
|
|
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr)
|
rs763323767
|
|
|
NM_000057.4(BLM):c.4215A>T (p.Ile1405=)
|
rs1596276635
|
|
|
NM_000057.4(BLM):c.4216_4217del (p.Ile1405_Asn1406insTer)
|
rs1567069065
|
|
|
NM_000057.4(BLM):c.4218T>C (p.Asn1406=)
|
rs2151202425
|
|
|
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr)
|
rs557057587
|
|
|
NM_000057.4(BLM):c.4221A>C (p.Arg1407Ser)
|
rs1567069076
|
|
|
NM_000057.4(BLM):c.4222C>T (p.Pro1408Ser)
|
|
|
|
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg)
|
rs1022266595
|
|
|
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu)
|
rs1022266595
|
|
|
NM_000057.4(BLM):c.4225T>C (p.Phe1409Leu)
|
|
|
|
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe)
|
rs1897532582
|
|
|
NM_000057.4(BLM):c.4229T>G (p.Leu1410Arg)
|
rs2151202442
|
|
|
NM_000057.4(BLM):c.4230_4231insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACACCGTCTCCACCAAAAAAATAAATAGACCGTTTCTT (p.Leu1410_Lys1411insPhePhePhePhePhePheXaaXaaXaaXaaAlaProArgGluAlaGluAlaGlyArgSerLeuAlaValArgSerTrpArgProAlaArgProThrGlnArgAsnThrValSerThrLysLysIleAsnArgProPheLeu)
|
|
|
|
NM_000057.4(BLM):c.4231A>T (p.Lys1411Ter)
|
rs2151202445
|
|
|
NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg)
|
rs1897532698
|
|
|
NM_000057.4(BLM):c.4232A>T (p.Lys1411Met)
|
rs1897532698
|
|
|
NM_000057.4(BLM):c.4233G>A (p.Lys1411=)
|
rs2151202450
|
|
|
NM_000057.4(BLM):c.4234C>A (p.Pro1412Thr)
|
rs1249221595
|
|
|
NM_000057.4(BLM):c.4234C>G (p.Pro1412Ala)
|
rs1249221595
|
|
|
NM_000057.4(BLM):c.4234C>T (p.Pro1412Ser)
|
|
|
|
NM_000057.4(BLM):c.4235C>T (p.Pro1412Leu)
|
|
|
|
NM_000057.4(BLM):c.4237del (p.Ser1413fs)
|
rs1454179023
|
|
|
NM_000057.4(BLM):c.4239A>G (p.Ser1413=)
|
rs1897533354
|
|
|
NM_000057.4(BLM):c.4241A>G (p.Tyr1414Cys)
|
|
|
|
NM_000057.4(BLM):c.4242T>C (p.Tyr1414=)
|
rs2151202466
|
|
|
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu)
|
rs1567069125
|
|
|
NM_000057.4(BLM):c.4248C>T (p.Phe1416=)
|
rs1567069125
|
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
|
NM_000057.4(BLM):c.4251A>G (p.Ser1417=)
|
rs886051553
|
|
|
NM_000057.4(BLM):c.4251A>T (p.Ser1417=)
|
|
|
|
NM_000057.4(BLM):c.426T>C (p.Ser142=)
|
rs2151147337
|
|
|
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr)
|
rs1488217859
|
|
|
NM_000057.4(BLM):c.42A>G (p.Glu14=)
|
rs2151145021
|
|
|
NM_000057.4(BLM):c.430T>A (p.Ser144Thr)
|
|
|
|
NM_000057.4(BLM):c.431C>T (p.Ser144Leu)
|
rs1596218439
|
|
|
NM_000057.4(BLM):c.432A>G (p.Ser144=)
|
|
|
|
NM_000057.4(BLM):c.433C>G (p.Pro145Ala)
|
rs1555418335
|
|
|
NM_000057.4(BLM):c.434C>A (p.Pro145Gln)
|
rs1895616094
|
|
|
NM_000057.4(BLM):c.434C>G (p.Pro145Arg)
|
rs1895616094
|
|
|
NM_000057.4(BLM):c.435A>G (p.Pro145=)
|
|
|
|
NM_000057.4(BLM):c.437A>C (p.Asp146Ala)
|
rs902876126
|
|
|
NM_000057.4(BLM):c.437A>G (p.Asp146Gly)
|
|
|
|
NM_000057.4(BLM):c.43C>A (p.Arg15Ser)
|
rs148545569
|
|
|
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer)
|
rs1895617043
|
|
|
NM_000057.4(BLM):c.444A>G (p.Leu148=)
|
|
|
|
NM_000057.4(BLM):c.446G>A (p.Ser149Asn)
|
|
|
|
NM_000057.4(BLM):c.446G>C (p.Ser149Thr)
|
|
|
|
NM_000057.4(BLM):c.448A>G (p.Thr150Ala)
|
rs1567035400
|
|
|
NM_000057.4(BLM):c.449C>T (p.Thr150Ile)
|
|
|
|
NM_000057.4(BLM):c.452T>A (p.Ile151Asn)
|
rs2151147375
|
|
|
NM_000057.4(BLM):c.454A>G (p.Asn152Asp)
|
rs2151147384
|
|
|
NM_000057.4(BLM):c.455A>G (p.Asn152Ser)
|
rs749633106
|
|
|
NM_000057.4(BLM):c.456T>C (p.Asn152=)
|
rs1316621251
|
|
|
NM_000057.4(BLM):c.459T>C (p.Asp153=)
|
rs779259379
|
|
|
NM_000057.4(BLM):c.45T>A (p.Arg15=)
|
rs1458732220
|
|
|
NM_000057.4(BLM):c.460T>C (p.Trp154Arg)
|
rs1226287991
|
|
|
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
|
|
|
|
NM_000057.4(BLM):c.462G>C (p.Trp154Cys)
|
rs2151147399
|
|
|
NM_000057.4(BLM):c.463G>T (p.Asp155Tyr)
|
rs2151147403
|
|
|
NM_000057.4(BLM):c.468T>C (p.Asp156=)
|
|
|
|
NM_000057.4(BLM):c.469A>G (p.Met157Val)
|
rs2151147416
|
|
|
NM_000057.4(BLM):c.46C>G (p.His16Asp)
|
rs1895533888
|
|
|
NM_000057.4(BLM):c.46C>T (p.His16Tyr)
|
|
|
|
NM_000057.4(BLM):c.470T>G (p.Met157Arg)
|
rs773103759
|
|
|
NM_000057.4(BLM):c.477C>T (p.Asp159=)
|
rs1276097571
|
|
|
NM_000057.4(BLM):c.479T>C (p.Phe160Ser)
|
|
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
|
NM_000057.4(BLM):c.480T>C (p.Phe160=)
|
rs1251281091
|
|
|
NM_000057.4(BLM):c.483T>C (p.Asp161=)
|
rs2151147439
|
|
|
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del)
|
rs773427744
|
|
|
NM_000057.4(BLM):c.485C>T (p.Thr162Ile)
|
rs1596218602
|
|
|
NM_000057.4(BLM):c.486T>C (p.Thr162=)
|
rs1596218608
|
|
|
NM_000057.4(BLM):c.487del (p.Ser163fs)
|
|
|
|
NM_000057.4(BLM):c.489T>A (p.Ser163=)
|
rs781044650
|
|
|
NM_000057.4(BLM):c.489T>C (p.Ser163=)
|
rs781044650
|
|
|
NM_000057.4(BLM):c.48C>T (p.His16=)
|
rs757172775
|
|
|
NM_000057.4(BLM):c.491A>C (p.Glu164Ala)
|
rs1555418365
|
|
|
NM_000057.4(BLM):c.492G>C (p.Glu164Asp)
|
|
|
|
NM_000057.4(BLM):c.494C>G (p.Thr165Ser)
|
|
|
|
NM_000057.4(BLM):c.497C>G (p.Ser166Ter)
|
rs896357448
|
|
|
NM_000057.4(BLM):c.497C>T (p.Ser166Leu)
|
rs896357448
|
|
|
NM_000057.4(BLM):c.498A>G (p.Ser166=)
|
|
|
|
NM_000057.4(BLM):c.4G>T (p.Ala2Ser)
|
rs199769364
|
|
|
NM_000057.4(BLM):c.501A>G (p.Lys167=)
|
rs1895621474
|
|
|
NM_000057.4(BLM):c.504A>T (p.Ser168=)
|
rs1596218655
|
|
|
NM_000057.4(BLM):c.506T>A (p.Phe169Tyr)
|
rs1013299710
|
|
|
NM_000057.4(BLM):c.507T>G (p.Phe169Leu)
|
|
|
|
NM_000057.4(BLM):c.50C>T (p.Ser17Leu)
|
rs2151145042
|
|
|
NM_000057.4(BLM):c.510T>C (p.Val170=)
|
|
|
|
NM_000057.4(BLM):c.510T>G (p.Val170=)
|
|
|
|
NM_000057.4(BLM):c.511A>G (p.Thr171Ala)
|
rs1895622104
|
|
|
NM_000057.4(BLM):c.511dup (p.Thr171fs)
|
|
|
|
NM_000057.4(BLM):c.512C>T (p.Thr171Ile)
|
|
|
|
NM_000057.4(BLM):c.513A>G (p.Thr171=)
|
|
|
|
NM_000057.4(BLM):c.513A>T (p.Thr171=)
|
rs2151147499
|
|
|
NM_000057.4(BLM):c.514C>G (p.Pro172Ala)
|
rs1163233988
|
|
|
NM_000057.4(BLM):c.514C>T (p.Pro172Ser)
|
|
|
|
NM_000057.4(BLM):c.517C>A (p.Pro173Thr)
|
rs1458936595
|
|
|
NM_000057.4(BLM):c.517C>T (p.Pro173Ser)
|
|
|
|
NM_000057.4(BLM):c.518C>A (p.Pro173His)
|
rs762713320
|
|
|
NM_000057.4(BLM):c.518C>G (p.Pro173Arg)
|
rs762713320
|
|
|
NM_000057.4(BLM):c.521A>G (p.Gln174Arg)
|
rs1895622909
|
|
|
NM_000057.4(BLM):c.522_523del (p.His176fs)
|
|
|
|
NM_000057.4(BLM):c.524G>A (p.Ser175Asn)
|
rs2151147521
|
|
|
NM_000057.4(BLM):c.527A>C (p.His176Pro)
|
|
|
|
NM_000057.4(BLM):c.531T>C (p.Phe177=)
|
|
|
|
NM_000057.4(BLM):c.532G>A (p.Val178Ile)
|
rs1191794374
|
|
|
NM_000057.4(BLM):c.53C>T (p.Ala18Val)
|
|
|
|
NM_000057.4(BLM):c.540A>C (p.Val180=)
|
rs763776756
|
|
|
NM_000057.4(BLM):c.543C>A (p.Ser181Arg)
|
rs761288442
|
|
|
NM_000057.4(BLM):c.543C>T (p.Ser181=)
|
rs761288442
|
|
|
NM_000057.4(BLM):c.544A>G (p.Thr182Ala)
|
rs1060500643
|
|
|
NM_000057.4(BLM):c.545C>T (p.Thr182Ile)
|
rs749838731
|
|
|
NM_000057.4(BLM):c.550C>G (p.Gln184Glu)
|
|
|
|
NM_000057.4(BLM):c.555A>G (p.Lys185=)
|
rs766947105
|
|
|
NM_000057.4(BLM):c.556T>C (p.Ser186Pro)
|
rs1253019128
|
|
|
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
|
|
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
|
NM_000057.4(BLM):c.558A>G (p.Ser186=)
|
rs982183816
|
|
|
NM_000057.4(BLM):c.559A>C (p.Lys187Gln)
|
|
|
|
NM_000057.4(BLM):c.559A>G (p.Lys187Glu)
|
rs1895625606
|
|
|
NM_000057.4(BLM):c.561A>C (p.Lys187Asn)
|
rs2151147608
|
|
|
NM_000057.4(BLM):c.561A>G (p.Lys187=)
|
rs2151147608
|
|
|
NM_000057.4(BLM):c.563A>G (p.Lys188Arg)
|
rs907949967
|
|
|
NM_000057.4(BLM):c.564G>A (p.Lys188=)
|
rs1596218841
|
|
|
NM_000057.4(BLM):c.564G>C (p.Lys188Asn)
|
rs1596218841
|
|
|
NM_000057.4(BLM):c.565G>A (p.Gly189Ser)
|
rs1180631656
|
|
|
NM_000057.4(BLM):c.566G>T (p.Gly189Val)
|
|
|
|
NM_000057.4(BLM):c.566del (p.Gly189fs)
|
rs2151147614
|
|
|
NM_000057.4(BLM):c.568A>G (p.Lys190Glu)
|
rs1895626152
|
|
|
NM_000057.4(BLM):c.56G>A (p.Arg19Lys)
|
rs2151145055
|
|
|
NM_000057.4(BLM):c.570G>A (p.Lys190=)
|
rs2151147630
|
|
|
NM_000057.4(BLM):c.570G>T (p.Lys190Asn)
|
rs2151147630
|
|
|
NM_000057.4(BLM):c.572_573del (p.Arg191fs)
|
rs2151147628
|
|
|
NM_000057.4(BLM):c.573A>G (p.Arg191=)
|
|
|
|
NM_000057.4(BLM):c.574A>T (p.Asn192Tyr)
|
rs2151147636
|
|
|
NM_000057.4(BLM):c.578T>G (p.Phe193Cys)
|
|
|
|
NM_000057.4(BLM):c.579T>C (p.Phe193=)
|
|
|
|
NM_000057.4(BLM):c.57A>T (p.Arg19Ser)
|
rs1555418008
|
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
|
NM_000057.4(BLM):c.582T>A (p.Phe194Leu)
|
rs1895626638
|
|
|
NM_000057.4(BLM):c.582T>C (p.Phe194=)
|
rs1895626638
|
|
|
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
|
|
|
|
NM_000057.4(BLM):c.583A>T (p.Lys195Ter)
|
rs2151147654
|
|
|
NM_000057.4(BLM):c.586G>A (p.Ala196Thr)
|
rs1567035597
|
|
|
NM_000057.4(BLM):c.586G>C (p.Ala196Pro)
|
|
|
|
NM_000057.4(BLM):c.587C>A (p.Ala196Glu)
|
rs1895626846
|
|
|
NM_000057.4(BLM):c.588A>G (p.Ala196=)
|
|
|
|
NM_000057.4(BLM):c.589C>T (p.Gln197Ter)
|
rs2151147666
|
|
|
NM_000057.4(BLM):c.592C>G (p.Leu198Val)
|
rs1346738369
|
|
|
NM_000057.4(BLM):c.598A>G (p.Thr200Ala)
|
rs1895627174
|
|
|
NM_000057.4(BLM):c.598A>T (p.Thr200Ser)
|
rs1895627174
|
|
|
NM_000057.4(BLM):c.600A>C (p.Thr200=)
|
rs1427442721
|
|
|
NM_000057.4(BLM):c.600A>G (p.Thr200=)
|
|
|
|
NM_000057.4(BLM):c.601A>G (p.Thr201Ala)
|
rs1895627520
|
|
|
NM_000057.4(BLM):c.604A>C (p.Asn202His)
|
|
|
|
NM_000057.4(BLM):c.604_607del (p.Asn202fs)
|
rs774777021
|
|
|
NM_000057.4(BLM):c.605A>T (p.Asn202Ile)
|
rs1596218921
|
|
|
NM_000057.4(BLM):c.608C>G (p.Thr203Arg)
|
|
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
|
NM_000057.4(BLM):c.60_61delinsTG (p.Leu21Val)
|
|
|
|
NM_000057.4(BLM):c.612A>G (p.Val204=)
|
rs2151147738
|
|
|
NM_000057.4(BLM):c.613A>G (p.Lys205Glu)
|
|
|
|
NM_000057.4(BLM):c.614A>G (p.Lys205Arg)
|
rs1895628645
|
|
|
NM_000057.4(BLM):c.615G>C (p.Lys205Asn)
|
rs28903082
|
|
|
NM_000057.4(BLM):c.615G>T (p.Lys205Asn)
|
rs28903082
|
|
|
NM_000057.4(BLM):c.617C>A (p.Thr206Asn)
|
|
|
|
NM_000057.4(BLM):c.617C>T (p.Thr206Ile)
|
|
|
|
NM_000057.4(BLM):c.619del (p.Asp207fs)
|
rs1596218981
|
|
|
NM_000057.4(BLM):c.620A>T (p.Asp207Val)
|
rs1895629239
|
|
|
NM_000057.4(BLM):c.623T>G (p.Leu208Trp)
|
rs1555418411
|
|
|
NM_000057.4(BLM):c.623del (p.Leu208fs)
|
rs2151147765
|
|
|
NM_000057.4(BLM):c.623dup (p.Leu208fs)
|
|
|
|
NM_000057.4(BLM):c.624G>A (p.Leu208=)
|
|
|
|
NM_000057.4(BLM):c.624G>T (p.Leu208Phe)
|
|
|
|
NM_000057.4(BLM):c.627T>C (p.Pro209=)
|
|
|
|
NM_000057.4(BLM):c.633C>A (p.Pro211=)
|
|
|
|
NM_000057.4(BLM):c.633C>T (p.Pro211=)
|
rs2151147807
|
|
|
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del)
|
rs760096957
|
|
|
NM_000057.4(BLM):c.636C>G (p.Ser212=)
|
|
|
|
NM_000057.4(BLM):c.637T>C (p.Ser213Pro)
|
|
|
|
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
|
|
|
|
NM_000057.4(BLM):c.63TAA[2] (p.Asn23del)
|
|
|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
|
|
|
|
NM_000057.4(BLM):c.648G>A (p.Glu216=)
|
rs1208450024
|
|
|
NM_000057.4(BLM):c.64A>G (p.Asn22Asp)
|
rs1370338581
|
|
|
NM_000057.4(BLM):c.650A>C (p.Gln217Pro)
|
rs1895630967
|
|
|
NM_000057.4(BLM):c.651A>C (p.Gln217His)
|
rs1258361408
|
|
|
NM_000057.4(BLM):c.651A>G (p.Gln217=)
|
|
|
|
NM_000057.4(BLM):c.653T>C (p.Ile218Thr)
|
|
|
|
NM_000057.4(BLM):c.655G>C (p.Asp219His)
|
rs190228320
|
|
|
NM_000057.4(BLM):c.656A>C (p.Asp219Ala)
|
rs1246909789
|
|
|
NM_000057.4(BLM):c.656A>T (p.Asp219Val)
|
|
|
|
NM_000057.4(BLM):c.658T>A (p.Leu220Met)
|
|
|
|
NM_000057.4(BLM):c.661A>T (p.Thr221Ser)
|
rs1895631812
|
|
|
NM_000057.4(BLM):c.662C>A (p.Thr221Asn)
|
rs1407804704
|
|
|
NM_000057.4(BLM):c.662C>G (p.Thr221Ser)
|
|
|
|
NM_000057.4(BLM):c.666G>A (p.Glu222=)
|
rs1419771771
|
|
|
NM_000057.4(BLM):c.667G>A (p.Glu223Lys)
|
rs761533210
|
|
|
NM_000057.4(BLM):c.668A>G (p.Glu223Gly)
|
rs1895632421
|
|
|
NM_000057.4(BLM):c.672G>A (p.Gln224=)
|
rs1596219135
|
|
|
NM_000057.4(BLM):c.672G>C (p.Gln224His)
|
rs1596219135
|
|
|
NM_000057.4(BLM):c.675G>A (p.Lys225=)
|
rs2151147912
|
|
|
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr)
|
rs2151147916
|
|
|
NM_000057.4(BLM):c.678T>C (p.Asp226=)
|
|
|
|
NM_000057.4(BLM):c.678_680dup (p.Asp227dup)
|
rs1555418424
|
|
|
NM_000057.4(BLM):c.679G>A (p.Asp227Asn)
|
rs1555418427
|
|
|
NM_000057.4(BLM):c.685G>A (p.Glu229Lys)
|
rs1555418428
|
|
|
NM_000057.4(BLM):c.685G>C (p.Glu229Gln)
|
rs1555418428
|
|
|
NM_000057.4(BLM):c.687A>C (p.Glu229Asp)
|
|
|
|
NM_000057.4(BLM):c.689G>A (p.Trp230Ter)
|
rs2151147939
|
|
|
NM_000057.4(BLM):c.690G>T (p.Trp230Cys)
|
rs1895633501
|
|
|
NM_000057.4(BLM):c.691T>C (p.Leu231=)
|
|
|
|
NM_000057.4(BLM):c.695G>A (p.Ser232Asn)
|
|
|
|
NM_000057.4(BLM):c.699C>T (p.Ser233=)
|
rs200125311
|
|
|
NM_000057.4(BLM):c.700_710del (p.Asp234fs)
|
rs2151147969
|
|
|
NM_000057.4(BLM):c.700_713del (p.Asp234fs)
|
rs1567035745
|
|
|
NM_000057.4(BLM):c.701A>G (p.Asp234Gly)
|
|
|
|
NM_000057.4(BLM):c.701A>T (p.Asp234Val)
|
rs1895634297
|
|
|
NM_000057.4(BLM):c.702T>G (p.Asp234Glu)
|
rs1271054585
|
|
|
NM_000057.4(BLM):c.703G>A (p.Val235Met)
|
rs765696829
|
|
|
NM_000057.4(BLM):c.706A>C (p.Ile236Leu)
|
rs2151148002
|
|
|
NM_000057.4(BLM):c.707T>C (p.Ile236Thr)
|
rs1895634770
|
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
|
NM_000057.4(BLM):c.713T>C (p.Ile238Thr)
|
rs1895635327
|
|
|
NM_000057.4(BLM):c.714C>T (p.Ile238=)
|
|
|
|
NM_000057.4(BLM):c.715G>C (p.Asp239His)
|
rs200756519
|
|
|
NM_000057.4(BLM):c.716A>C (p.Asp239Ala)
|
|
|
|
NM_000057.4(BLM):c.716A>T (p.Asp239Val)
|
rs751699247
|
|
|
NM_000057.4(BLM):c.719A>G (p.Asp240Gly)
|
rs757324067
|
|
|
NM_000057.4(BLM):c.719A>T (p.Asp240Val)
|
rs757324067
|
|
|
NM_000057.4(BLM):c.722G>C (p.Gly241Ala)
|
|
|
|
NM_000057.4(BLM):c.726C>A (p.Pro242=)
|
rs2151148064
|
|
|
NM_000057.4(BLM):c.726C>T (p.Pro242=)
|
rs2151148064
|
|
|
NM_000057.4(BLM):c.728T>C (p.Ile243Thr)
|
rs200000438
|
|
|
NM_000057.4(BLM):c.729del (p.Ile243fs)
|
|
|
|
NM_000057.4(BLM):c.731C>T (p.Ala244Val)
|
|
|
|
NM_000057.4(BLM):c.732T>C (p.Ala244=)
|
rs2151148080
|
|
|
NM_000057.4(BLM):c.733G>A (p.Glu245Lys)
|
rs772711706
|
|
|
NM_000057.4(BLM):c.734A>T (p.Glu245Val)
|
|
|
|
NM_000057.4(BLM):c.736G>C (p.Val246Leu)
|
rs1895637254
|
|
|
NM_000057.4(BLM):c.738G>A (p.Val246=)
|
rs2151148091
|
|
|
NM_000057.4(BLM):c.739C>T (p.His247Tyr)
|
|
|
|
NM_000057.4(BLM):c.742A>G (p.Ile248Val)
|
rs558524280
|
|
|
NM_000057.4(BLM):c.742A>T (p.Ile248Leu)
|
rs558524280
|
|
|
NM_000057.4(BLM):c.743T>C (p.Ile248Thr)
|
|
|
|
NM_000057.4(BLM):c.745A>G (p.Asn249Asp)
|
|
|
|
NM_000057.4(BLM):c.74T>C (p.Leu25Ser)
|
rs1895534883
|
|
|
NM_000057.4(BLM):c.74T>G (p.Leu25Ter)
|
rs1895534883
|
|
|
NM_000057.4(BLM):c.752A>G (p.Asp251Gly)
|
rs1555418456
|
|
|
NM_000057.4(BLM):c.752A>T (p.Asp251Val)
|
rs1555418456
|
|
|
NM_000057.4(BLM):c.754G>A (p.Ala252Thr)
|
rs1895638377
|
|
|
NM_000057.4(BLM):c.754G>C (p.Ala252Pro)
|
|
|
|
NM_000057.4(BLM):c.756T>C (p.Ala252=)
|
rs1895638603
|
|
|
NM_000057.4(BLM):c.757del (p.Gln253fs)
|
rs2151148137
|
|
|
NM_000057.4(BLM):c.75A>G (p.Leu25=)
|
rs1276887266
|
|
|
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
|
|
|
|
NM_000057.4(BLM):c.760G>C (p.Glu254Gln)
|
rs181892828
|
|
|
NM_000057.4(BLM):c.760G>T (p.Glu254Ter)
|
rs181892828
|
|
|
NM_000057.4(BLM):c.762A>G (p.Glu254=)
|
|
|
|
NM_000057.4(BLM):c.764G>C (p.Ser255Thr)
|
|
|
|
NM_000057.4(BLM):c.768C>A (p.Asp256Glu)
|
|
|
|
NM_000057.4(BLM):c.768C>T (p.Asp256=)
|
rs765788538
|
|
|
NM_000057.4(BLM):c.772C>A (p.Leu258Met)
|
rs1895639952
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
|
NM_000057.4(BLM):c.778A>T (p.Thr260Ser)
|
|
|
|
NM_000057.4(BLM):c.779C>A (p.Thr260Asn)
|
rs2151148184
|
|
|
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
|
|
|
|
NM_000057.4(BLM):c.781C>T (p.His261Tyr)
|
rs1895640326
|
|
|
NM_000057.4(BLM):c.782A>G (p.His261Arg)
|
rs763166861
|
|
|
NM_000057.4(BLM):c.789A>G (p.Glu263=)
|
rs1596219365
|
|
|
NM_000057.4(BLM):c.789dup (p.Asp264fs)
|
rs2151148207
|
|
|
NM_000057.4(BLM):c.793G>C (p.Glu265Gln)
|
rs751718191
|
|
|
NM_000057.4(BLM):c.794A>G (p.Glu265Gly)
|
rs907073579
|
|
|
NM_000057.4(BLM):c.795A>G (p.Glu265=)
|
rs2151148221
|
|
|
NM_000057.4(BLM):c.796A>G (p.Arg266Gly)
|
rs1895641246
|
|
|
NM_000057.4(BLM):c.799+12T>C
|
|
|
|
NM_000057.4(BLM):c.799+14T>A
|
|
|
|
NM_000057.4(BLM):c.799+15A>G
|
rs2151148258
|
|
|
NM_000057.4(BLM):c.799+17C>T
|
|
|
|
NM_000057.4(BLM):c.799+1G>A
|
|
|
|
NM_000057.4(BLM):c.799+1G>T
|
rs1895641581
|
|
|
NM_000057.4(BLM):c.799+4A>C
|
rs1895641639
|
|
|
NM_000057.4(BLM):c.799+4_799+5delinsCA
|
rs1895641733
|
|
|
NM_000057.4(BLM):c.799+5C>A
|
|
|
|
NM_000057.4(BLM):c.799+7A>G
|
rs1596219393
|
|
|
NM_000057.4(BLM):c.799+7_799+10del
|
rs1218966283
|
|
|
NM_000057.4(BLM):c.79C>T (p.Leu27Phe)
|
|
|
|
NM_000057.4(BLM):c.7G>A (p.Ala3Thr)
|
rs1895531822
|
|
|
NM_000057.4(BLM):c.800-11T>C
|
|
|
|
NM_000057.4(BLM):c.800-13T>A
|
|
|
|
NM_000057.4(BLM):c.800-13T>G
|
|
|
|
NM_000057.4(BLM):c.800-14C>T
|
|
|
|
NM_000057.4(BLM):c.800-15A>T
|
|
|
|
NM_000057.4(BLM):c.800-18_800-17delinsAA
|
rs2151149459
|
|
|
NM_000057.4(BLM):c.800-20T>C
|
|
|
|
NM_000057.4(BLM):c.800-20_800-18del
|
rs2151149455
|
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
|
NM_000057.4(BLM):c.800-4G>A
|
rs1338362749
|
|
|
NM_000057.4(BLM):c.800-5T>C
|
rs1596220949
|
|
|
NM_000057.4(BLM):c.800-6C>A
|
rs2151149470
|
|
|
NM_000057.4(BLM):c.800-9T>C
|
|
|
|
NM_000057.4(BLM):c.804T>C (p.Asn268=)
|
|
|
|
NM_000057.4(BLM):c.806G>A (p.Ser269Asn)
|
rs2151149490
|
|
|
NM_000057.4(BLM):c.809A>G (p.Glu270Gly)
|
rs1895690744
|
|
|
NM_000057.4(BLM):c.810A>G (p.Glu270=)
|
rs1596220978
|
|
|
NM_000057.4(BLM):c.811A>G (p.Lys271Glu)
|
rs1895690937
|
|
|
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
|
|
|
|
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)
|
rs587779895
|
|
|
NM_000057.4(BLM):c.813GAA[4] (p.Lys273dup)
|
rs587779895
|
|
|
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)
|
|
|
|
NM_000057.4(BLM):c.815A>G (p.Lys272Arg)
|
rs2151149524
|
|
|
NM_000057.4(BLM):c.819G>T (p.Lys273Asn)
|
rs2151149532
|
|
|
NM_000057.4(BLM):c.822T>C (p.Asn274=)
|
rs1596221010
|
|
|
NM_000057.4(BLM):c.823T>C (p.Leu275=)
|
|
|
|
NM_000057.4(BLM):c.826del (p.Glu276fs)
|
rs2151149553
|
|
|
NM_000057.4(BLM):c.827A>G (p.Glu276Gly)
|
rs2151149556
|
|
|
NM_000057.4(BLM):c.829G>T (p.Glu277Ter)
|
rs1596221020
|
|
|
NM_000057.4(BLM):c.833C>T (p.Ala278Val)
|
rs1895692100
|
|
|
NM_000057.4(BLM):c.835G>T (p.Glu279Ter)
|
rs1567036566
|
|
|
NM_000057.4(BLM):c.837A>G (p.Glu279=)
|
rs756158096
|
|
|
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer)
|
rs1567036579
|
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
|
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer)
|
rs2151145092
|
|
|
NM_000057.4(BLM):c.841C>A (p.His281Asn)
|
|
|
|
NM_000057.4(BLM):c.841C>T (p.His281Tyr)
|
|
|
|
NM_000057.4(BLM):c.842A>G (p.His281Arg)
|
rs202042636
|
|
|
NM_000057.4(BLM):c.842del (p.His281fs)
|
rs1895692863
|
|
|
NM_000057.4(BLM):c.843T>G (p.His281Gln)
|
rs1567036601
|
|
|
NM_000057.4(BLM):c.848C>G (p.Thr283Ser)
|
rs1567036612
|
|
|
NM_000057.4(BLM):c.84A>G (p.Ser28=)
|
rs1166385360
|
|
|
NM_000057.4(BLM):c.852G>A (p.Glu284=)
|
rs2151149592
|
|
|
NM_000057.4(BLM):c.853A>G (p.Lys285Glu)
|
|
|
|
NM_000057.4(BLM):c.855A>G (p.Lys285=)
|
|
|
|
NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
|
|
|
NM_000057.4(BLM):c.856G>A (p.Val286Ile)
|
|
|
|
NM_000057.4(BLM):c.856G>T (p.Val286Phe)
|
rs758301305
|
|
|
NM_000057.4(BLM):c.857T>C (p.Val286Ala)
|
|
|
|
NM_000057.4(BLM):c.859C>A (p.Pro287Thr)
|
rs746748670
|
|
|
NM_000057.4(BLM):c.861A>G (p.Pro287=)
|
rs1555418666
|
|
|
NM_000057.4(BLM):c.862T>A (p.Cys288Ser)
|
rs2151149624
|
|
|
NM_000057.4(BLM):c.862T>G (p.Cys288Gly)
|
|
|
|
NM_000057.4(BLM):c.863G>C (p.Cys288Ser)
|
rs1260150929
|
|
|
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
|
|
|
|
NM_000057.4(BLM):c.865A>G (p.Ile289Val)
|
rs1895693953
|
|
|
NM_000057.4(BLM):c.873T>C (p.Phe291=)
|
rs1006578287
|
|
|
NM_000057.4(BLM):c.874G>C (p.Asp292His)
|
|
|
|
NM_000057.4(BLM):c.874GAT[3] (p.Asp295del)
|
rs1208432656
|
|
|
NM_000057.4(BLM):c.874GAT[5] (p.Asp295dup)
|
rs1208432656
|
|
|
NM_000057.4(BLM):c.876T>C (p.Asp292=)
|
rs1336155306
|
|
|
NM_000057.4(BLM):c.87A>G (p.Lys29=)
|
rs1895535691
|
|
|
NM_000057.4(BLM):c.881A>G (p.Asp294Gly)
|
rs1895694767
|
|
|
NM_000057.4(BLM):c.882T>C (p.Asp294=)
|
rs201168622
|
|
|
NM_000057.4(BLM):c.883G>A (p.Asp295Asn)
|
rs146096923
|
|
|
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr)
|
rs146096923
|
|
|
NM_000057.4(BLM):c.885T>A (p.Asp295Glu)
|
rs2151149661
|
|
|
NM_000057.4(BLM):c.886T>C (p.Tyr296His)
|
rs1596221177
|
|
|
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys)
|
rs775005766
|
|
|
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe)
|
rs775005766
|
|
|
NM_000057.4(BLM):c.889G>T (p.Asp297Tyr)
|
|
|
|
NM_000057.4(BLM):c.891T>C (p.Asp297=)
|
rs2151149684
|
|
|
NM_000057.4(BLM):c.895G>A (p.Asp299Asn)
|
|
|
|
NM_000057.4(BLM):c.899T>C (p.Phe300Ser)
|
|
|
|
NM_000057.4(BLM):c.903T>A (p.Val301=)
|
rs2151149711
|
|
|
NM_000057.4(BLM):c.903T>C (p.Val301=)
|
rs2151149711
|
|
|
NM_000057.4(BLM):c.905C>T (p.Pro302Leu)
|
rs1895696337
|
|
|
NM_000057.4(BLM):c.907C>T (p.Pro303Ser)
|
|
|
|
NM_000057.4(BLM):c.909T>G (p.Pro303=)
|
|
|
|
NM_000057.4(BLM):c.90A>G (p.Pro30=)
|
rs2151145112
|
|
|
NM_000057.4(BLM):c.910T>G (p.Ser304Ala)
|
rs2151149729
|
|
|
NM_000057.4(BLM):c.913C>T (p.Pro305Ser)
|
rs1895696721
|
|
|
NM_000057.4(BLM):c.917A>G (p.Glu306Gly)
|
rs2151149738
|
|
|
NM_000057.4(BLM):c.919G>T (p.Glu307Ter)
|
rs766386787
|
|
|
NM_000057.4(BLM):c.922A>G (p.Ile308Val)
|
rs1596221274
|
|
|
NM_000057.4(BLM):c.925A>G (p.Ile309Val)
|
|
|
|
NM_000057.4(BLM):c.926T>C (p.Ile309Thr)
|
rs1895697384
|
|
|
NM_000057.4(BLM):c.930T>C (p.Ser310=)
|
rs1471248156
|
|
|
NM_000057.4(BLM):c.932C>T (p.Ala311Val)
|
|
|
|
NM_000057.4(BLM):c.933TTC[2] (p.Ser316del)
|
rs564966225
|
|
|
NM_000057.4(BLM):c.934T>A (p.Ser312Thr)
|
rs372454889
|
|
|
NM_000057.4(BLM):c.93A>G (p.Lys31=)
|
rs2151145115
|
|
|
NM_000057.4(BLM):c.941C>T (p.Ser314Phe)
|
|
|
|
NM_000057.4(BLM):c.942C>G (p.Ser314=)
|
|
|
|
NM_000057.4(BLM):c.943T>G (p.Ser315Ala)
|
|
|
|
NM_000057.4(BLM):c.944C>T (p.Ser315Phe)
|
rs1895698325
|
|
|
NM_000057.4(BLM):c.945T>C (p.Ser315=)
|
rs2151149787
|
|
|
NM_000057.4(BLM):c.952T>C (p.Cys318Arg)
|
|
|
|
NM_000057.4(BLM):c.953G>A (p.Cys318Tyr)
|
|
|
|
NM_000057.4(BLM):c.954C>G (p.Cys318Trp)
|
rs1596221322
|
|
|
NM_000057.4(BLM):c.955C>T (p.Leu319Phe)
|
rs1567036793
|
|
|
NM_000057.4(BLM):c.959+10C>A
|
rs2151149826
|
|
|
NM_000057.4(BLM):c.959+12A>G
|
|
|
|
NM_000057.4(BLM):c.959+19T>C
|
|
|
|
NM_000057.4(BLM):c.959+1_959+9del
|
rs765061205
|
|
|
NM_000057.4(BLM):c.959+20A>G
|
|
|
|
NM_000057.4(BLM):c.959+20A>T
|
|
|
|
NM_000057.4(BLM):c.959+2_959+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC
|
|
|
|
NM_000057.4(BLM):c.959+9G>C
|
|
|
|
NM_000057.4(BLM):c.959G>C (p.Ser320Thr)
|
rs757112333
|
|
|
NM_000057.4(BLM):c.959_959+16del
|
|
|
|
NM_000057.4(BLM):c.960-10T>G
|
|
|
|
NM_000057.4(BLM):c.960-16T>A
|
|
|
|
NM_000057.4(BLM):c.960-17A>T
|
rs1567037887
|
|
|
NM_000057.4(BLM):c.960-1G>A
|
rs1596223715
|
|
|
NM_000057.4(BLM):c.960-1G>T
|
rs1596223715
|
|
|
NM_000057.4(BLM):c.960-2A>C
|
rs1286600850
|
|
|
NM_000057.4(BLM):c.960-3C>T
|
rs878962653
|
|
|
NM_000057.4(BLM):c.960-4G>A
|
rs1555418976
|
|
|
NM_000057.4(BLM):c.960-7T>C
|
rs2151152020
|
|
|
NM_000057.4(BLM):c.960-9T>A
|
|
|
|
NM_000057.4(BLM):c.960-9del
|
|
|
|
NM_000057.4(BLM):c.960-9dup
|
rs758366991
|
|
|
NM_000057.4(BLM):c.962C>T (p.Thr321Met)
|
|
|
|
NM_000057.4(BLM):c.966A>G (p.Leu322=)
|
rs1361231725
|
|
|
NM_000057.4(BLM):c.967A>C (p.Lys323Gln)
|
rs2151152050
|
|
|
NM_000057.4(BLM):c.96T>C (p.Phe32=)
|
rs2151145118
|
|
|
NM_000057.4(BLM):c.972C>A (p.Asp324Glu)
|
|
|
|
NM_000057.4(BLM):c.972C>T (p.Asp324=)
|
rs769094708
|
|
|
NM_000057.4(BLM):c.975T>C (p.Leu325=)
|
|
|
|
NM_000057.4(BLM):c.976G>A (p.Asp326Asn)
|
rs1013220474
|
|
|
NM_000057.4(BLM):c.976G>T (p.Asp326Tyr)
|
|
|
|
NM_000057.4(BLM):c.978C>A (p.Asp326Glu)
|
|
|
|
NM_000057.4(BLM):c.97dup (p.Ser33fs)
|
|
|
|
NM_000057.4(BLM):c.98+11del
|
rs2151145130
|
|
|
NM_000057.4(BLM):c.98+15T>C
|
rs2151145139
|
|
|
NM_000057.4(BLM):c.98+16G>A
|
|
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
|
NM_000057.4(BLM):c.98+2_98+3insCT
|
|
|
|
NM_000057.4(BLM):c.98+2dup
|
rs1555418016
|
|
|
NM_000057.4(BLM):c.98+3_98+6del
|
rs1555418015
|
|
|
NM_000057.4(BLM):c.98+7G>A
|
|
|
|
NM_000057.4(BLM):c.980C>A (p.Thr327Asn)
|
rs748581308
|
|
|
NM_000057.4(BLM):c.980C>G (p.Thr327Ser)
|
rs748581308
|
|
|
NM_000057.4(BLM):c.980C>T (p.Thr327Ile)
|
|
|
|
NM_000057.4(BLM):c.981C>G (p.Thr327=)
|
rs1140119
|
|
|
NM_000057.4(BLM):c.981C>T (p.Thr327=)
|
rs1140119
|
|
|
NM_000057.4(BLM):c.982T>G (p.Ser328Ala)
|
rs2151152087
|
|
|
NM_000057.4(BLM):c.982del (p.Ser328fs)
|
|
|
|
NM_000057.4(BLM):c.983C>T (p.Ser328Phe)
|
rs2151152099
|
|
|
NM_000057.4(BLM):c.984del (p.Asp329fs)
|
rs2151152104
|
|
|
NM_000057.4(BLM):c.985G>A (p.Asp329Asn)
|
rs1895774818
|
|
|
NM_000057.4(BLM):c.985G>C (p.Asp329His)
|
rs1895774818
|
|
|
NM_000057.4(BLM):c.988A>G (p.Arg330Gly)
|
|
|
|
NM_000057.4(BLM):c.98_98+1del
|
|
|
|
NM_000057.4(BLM):c.99-15T>C
|
rs2151146672
|
|
|
NM_000057.4(BLM):c.99-1G>T
|
|
|
|
NM_000057.4(BLM):c.99-20G>A
|
|
|
|
NM_000057.4(BLM):c.99-20G>C
|
|
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|
|
NM_000057.4(BLM):c.99-9A>T
|
rs1419730289
|
|
|
NM_000057.4(BLM):c.99-9_99-7del
|
rs1229333064
|
|
|
NM_000057.4(BLM):c.990A>G (p.Arg330=)
|
|
|
|
NM_000057.4(BLM):c.991A>G (p.Lys331Glu)
|
rs1596223773
|
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
|
NM_000057.4(BLM):c.993A>G (p.Lys331=)
|
rs2151152140
|
|
|
NM_000057.4(BLM):c.993del (p.Glu332fs)
|
rs2151152131
|
|
|
NM_000057.4(BLM):c.994G>C (p.Glu332Gln)
|
rs1596223780
|
|
|
NM_000057.4(BLM):c.995A>T (p.Glu332Val)
|
rs2151152146
|
|
|
NM_000057.4(BLM):c.996G>A (p.Glu332=)
|
rs2151152149
|
|
|
NM_000057.4(BLM):c.997G>T (p.Asp333Tyr)
|
rs1567037944
|
|
|
NM_000057.4(BLM):c.9T>C (p.Ala3=)
|
rs1596215598
|
|
|
NM_001172509.2(SATB2):c.1003A>G (p.Ile335Val)
|
|
|
|
NM_001172509.2(SATB2):c.1005C>T (p.Ile335=)
|
rs2105823089
|
|
|
NM_001172509.2(SATB2):c.1007A>G (p.Asn336Ser)
|
|
|
|
NM_001172509.2(SATB2):c.1008C>T (p.Asn336=)
|
|
|
|
NM_001172509.2(SATB2):c.1019del (p.Leu340fs)
|
|
|
|
NM_001172509.2(SATB2):c.1053A>G (p.Pro351=)
|
|
|
|
NM_001172509.2(SATB2):c.1059A>C (p.Pro353=)
|
rs1277703220
|
|
|
NM_001172509.2(SATB2):c.1064A>C (p.Asn355Thr)
|
rs1283962528
|
|
|
NM_001172509.2(SATB2):c.1074G>T (p.Val358=)
|
|
|
|
NM_001172509.2(SATB2):c.1075G>C (p.Glu359Gln)
|
|
|
|
NM_001172509.2(SATB2):c.1082C>T (p.Ser361Phe)
|
|
|
|
NM_001172509.2(SATB2):c.108G>C (p.Gln36His)
|
|
|
|
NM_001172509.2(SATB2):c.1118A>G (p.Lys373Arg)
|
|
|
|
NM_001172509.2(SATB2):c.1127G>T (p.Ser376Ile)
|
rs1688727085
|
|
|
NM_001172509.2(SATB2):c.1128T>C (p.Ser376=)
|
rs776791250
|
|
|
NM_001172509.2(SATB2):c.112G>T (p.Gly38Cys)
|
rs1458922428
|
|
|
NM_001172509.2(SATB2):c.1155G>A (p.Val385=)
|
|
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
|
NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu)
|
rs1247886882
|
|
|
NM_001172509.2(SATB2):c.1173+10G>A
|
|
|
|
NM_001172509.2(SATB2):c.1173+8T>A
|
rs2105822763
|
|
|
NM_001172509.2(SATB2):c.1174-12C>G
|
|
|
|
NM_001172509.2(SATB2):c.1174-13C>A
|
|
|
|
NM_001172509.2(SATB2):c.1174-16del
|
rs555268633
|
|
|
NM_001172509.2(SATB2):c.1174-16dup
|
|
|
|
NM_001172509.2(SATB2):c.1174-18T>C
|
|
|
|
NM_001172509.2(SATB2):c.1179G>A (p.Leu393=)
|
|
|
|
NM_001172509.2(SATB2):c.117C>T (p.Ser39=)
|
|
|
|
NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly)
|
rs1688108235
|
|
|
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
|
|
|
|
NM_001172509.2(SATB2):c.118C>G (p.Pro40Ala)
|
rs1191904885
|
|
|
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)
|
rs1574511051
|
|
|
NM_001172509.2(SATB2):c.1203A>G (p.Glu401=)
|
rs1574511020
|
|
|
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)
|
|
|
|
NM_001172509.2(SATB2):c.1221C>T (p.Ala407=)
|
|
|
|
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
|
|
|
|
NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys)
|
rs1341868380
|
|
|
NM_001172509.2(SATB2):c.1252A>G (p.Met418Val)
|
rs1574510913
|
|
|
NM_001172509.2(SATB2):c.1276_1277inv (p.Glu426Ser)
|
|
|
|
NM_001172509.2(SATB2):c.1278A>C (p.Glu426Asp)
|
rs775219160
|
|
|
NM_001172509.2(SATB2):c.1279G>T (p.Val427Leu)
|
rs1306994967
|
|
|
NM_001172509.2(SATB2):c.1280T>C (p.Val427Ala)
|
rs2105795391
|
|
|
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)
|
rs886041847
|
|
|
NM_001172509.2(SATB2):c.1290T>C (p.Asp430=)
|
|
|
|
NM_001172509.2(SATB2):c.1291C>T (p.Arg431Cys)
|
|
|
|
NM_001172509.2(SATB2):c.1321A>G (p.Met441Val)
|
|
|
|
NM_001172509.2(SATB2):c.1328C>T (p.Pro443Leu)
|
|
|
|
NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs)
|
rs1688101934
|
|
|
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
|
|
|
|
NM_001172509.2(SATB2):c.1332T>C (p.Asn444=)
|
rs955130914
|
|
|
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe)
|
rs1323623166
|
|
|
NM_001172509.2(SATB2):c.1349C>T (p.Ser450Leu)
|
|
|
|
NM_001172509.2(SATB2):c.1350G>A (p.Ser450=)
|
|
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
|
NM_001172509.2(SATB2):c.1387-10C>T
|
rs1574506260
|
|
|
NM_001172509.2(SATB2):c.1387-27ATT[2]
|
|
|
|
NM_001172509.2(SATB2):c.1389C>T (p.Ala463=)
|
|
|
|
NM_001172509.2(SATB2):c.1391A>G (p.Lys464Arg)
|
|
|
|
NM_001172509.2(SATB2):c.1396T>A (p.Ser466Thr)
|
rs1402503767
|
|
|
NM_001172509.2(SATB2):c.1401A>G (p.Thr467=)
|
|
|
|
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
|
|
|
|
NM_001172509.2(SATB2):c.1407A>G (p.Thr469=)
|
rs373031055
|
|
|
NM_001172509.2(SATB2):c.1407A>T (p.Thr469=)
|
rs373031055
|
|
|
NM_001172509.2(SATB2):c.140C>T (p.Pro47Leu)
|
rs1692259118
|
|
|
NM_001172509.2(SATB2):c.1410A>G (p.Thr470=)
|
rs2105789287
|
|
|
NM_001172509.2(SATB2):c.1413C>T (p.Asp471=)
|
|
|
|
NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val)
|
rs765116524
|
|
|
NM_001172509.2(SATB2):c.1426G>T (p.Val476Leu)
|
|
|
|
NM_001172509.2(SATB2):c.1431C>T (p.Asp477=)
|
rs765952558
|
|
|
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser)
|
rs1043250716
|
|
|
NM_001172509.2(SATB2):c.143A>C (p.Asn48Thr)
|
|
|
|
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val)
|
rs1559161533
|
|
|
NM_001172509.2(SATB2):c.1443C>T (p.Ile481=)
|
|
|
|
NM_001172509.2(SATB2):c.1452A>G (p.Thr484=)
|
rs2105789191
|
|
|
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
|
|
|
|
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
|
|
|
|
NM_001172509.2(SATB2):c.147C>T (p.Gly49=)
|
|
|
|
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val)
|
rs1057524205
|
|
|
NM_001172509.2(SATB2):c.1481_1491del (p.Glu494fs)
|
|
|
|
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
|
|
|
|
NM_001172509.2(SATB2):c.1497G>A (p.Lys499=)
|
|
|
|
NM_001172509.2(SATB2):c.14G>A (p.Ser5Asn)
|
|
|
|
NM_001172509.2(SATB2):c.1503T>C (p.Ser501=)
|
|
|
|
NM_001172509.2(SATB2):c.150C>G (p.Ala50=)
|
rs778660613
|
|
|
NM_001172509.2(SATB2):c.150C>T (p.Ala50=)
|
rs778660613
|
|
|
NM_001172509.2(SATB2):c.1524G>C (p.Val508=)
|
rs1574506012
|
|
|
NM_001172509.2(SATB2):c.1542+18A>C
|
rs1687956913
|
|
|
NM_001172509.2(SATB2):c.1542+9T>C
|
rs1306705746
|
|
|
NM_001172509.2(SATB2):c.1543-18G>A
|
|
|
|
NM_001172509.2(SATB2):c.1543-19C>T
|
|
|
|
NM_001172509.2(SATB2):c.1551G>A (p.Leu517=)
|
rs760937399
|
|
|
NM_001172509.2(SATB2):c.1558C>T (p.Leu520=)
|
|
|
|
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
|
|
|
|
NM_001172509.2(SATB2):c.1577A>T (p.Asn526Ile)
|
rs2105769212
|
|
|
NM_001172509.2(SATB2):c.1592dup (p.Asn531fs)
|
rs1553544158
|
|
|
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys)
|
rs2105769188
|
|
|
NM_001172509.2(SATB2):c.1595G>A (p.Arg532His)
|
rs1574492405
|
|
|
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
|
|
|
|
NM_001172509.2(SATB2):c.15C>G (p.Ser5Arg)
|
|
|
|
NM_001172509.2(SATB2):c.1600C>T (p.Leu534Phe)
|
rs2105769179
|
|
|
NM_001172509.2(SATB2):c.1625G>A (p.Arg542His)
|
rs2105769137
|
|
|
NM_001172509.2(SATB2):c.162C>T (p.Ala54=)
|
rs2105957105
|
|
|
NM_001172509.2(SATB2):c.1639C>T (p.Leu547Phe)
|
|
|
|
NM_001172509.2(SATB2):c.1642C>T (p.Pro548Ser)
|
|
|
|
NM_001172509.2(SATB2):c.164T>C (p.Val55Ala)
|
|
|
|
NM_001172509.2(SATB2):c.1658A>G (p.Asp553Gly)
|
|
|
|
NM_001172509.2(SATB2):c.1662C>T (p.Val554=)
|
|
|
|
NM_001172509.2(SATB2):c.1681A>G (p.Arg561Gly)
|
|
|
|
NM_001172509.2(SATB2):c.169+14G>A
|
|
|
|
NM_001172509.2(SATB2):c.169+9C>T
|
|
|
|
NM_001172509.2(SATB2):c.1695C>T (p.Ser565=)
|
rs1687513099
|
|
|
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)
|
rs1064795530
|
|
|
NM_001172509.2(SATB2):c.170-11T>C
|
|
|
|
NM_001172509.2(SATB2):c.170-17G>T
|
|
|
|
NM_001172509.2(SATB2):c.170-2A>G
|
|
|
|
NM_001172509.2(SATB2):c.1701C>T (p.Arg567=)
|
rs2105768987
|
|
|
NM_001172509.2(SATB2):c.1702A>T (p.Met568Leu)
|
|
|
|
NM_001172509.2(SATB2):c.1710C>T (p.His570=)
|
rs764708410
|
|
|
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met)
|
rs188013011
|
|
|
NM_001172509.2(SATB2):c.1726C>A (p.Pro576Thr)
|
|
|
|
NM_001172509.2(SATB2):c.1726C>G (p.Pro576Ala)
|
|
|
|
NM_001172509.2(SATB2):c.1728T>C (p.Pro576=)
|
rs1452404773
|
|
|
NM_001172509.2(SATB2):c.1731G>A (p.Glu577=)
|
|
|
|
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
|
|
|
|
NM_001172509.2(SATB2):c.1735G>T (p.Val579Leu)
|
|
|
|
NM_001172509.2(SATB2):c.1740+11C>T
|
|
|
|
NM_001172509.2(SATB2):c.1740+13G>A
|
|
|
|
NM_001172509.2(SATB2):c.1740+16C>A
|
|
|
|
NM_001172509.2(SATB2):c.1740+17G>A
|
|
|
|
NM_001172509.2(SATB2):c.1740+20_1740+29del
|
rs749467784
|
|
|
NM_001172509.2(SATB2):c.1740+8T>C
|
rs2105768843
|
|
|
NM_001172509.2(SATB2):c.1741-11T>G
|
|
|
|
NM_001172509.2(SATB2):c.1741-16C>T
|
rs2105707669
|
|
|
NM_001172509.2(SATB2):c.1741-6T>C
|
rs1692196719
|
|
|
NM_001172509.2(SATB2):c.1741G>A (p.Val581Ile)
|
|
|
|
NM_001172509.2(SATB2):c.1741G>C (p.Val581Leu)
|
rs1692196446
|
|
|
NM_001172509.2(SATB2):c.1751G>A (p.Arg584Lys)
|
rs2105707604
|
|
|
NM_001172509.2(SATB2):c.1754A>G (p.Gln585Arg)
|
rs1692196085
|
|
|
NM_001172509.2(SATB2):c.1771A>C (p.Lys591Gln)
|
rs2105707537
|
|
|
NM_001172509.2(SATB2):c.1774G>A (p.Glu592Lys)
|
rs2105707521
|
|
|
NM_001172509.2(SATB2):c.1779T>C (p.Ser593=)
|
|
|
|
NM_001172509.2(SATB2):c.1795G>A (p.Glu599Lys)
|
|
|
|
NM_001172509.2(SATB2):c.1800G>A (p.Ala600=)
|
rs764410137
|
|
|
NM_001172509.2(SATB2):c.1800G>T (p.Ala600=)
|
rs764410137
|
|
|
NM_001172509.2(SATB2):c.1806C>G (p.Pro602=)
|
|
|
|
NM_001172509.2(SATB2):c.1806C>T (p.Pro602=)
|
rs1046317203
|
|
|
NM_001172509.2(SATB2):c.1808C>T (p.Pro603Leu)
|
|
|
|
NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)
|
|
|
|
NM_001172509.2(SATB2):c.1818G>A (p.Pro606=)
|
rs141436870
|
|
|
NM_001172509.2(SATB2):c.1843C>A (p.Pro615Thr)
|
|
|
|
NM_001172509.2(SATB2):c.1844C>T (p.Pro615Leu)
|
rs1692191333
|
|
|
NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys)
|
rs2105707260
|
|
|
NM_001172509.2(SATB2):c.1853G>A (p.Arg618His)
|
rs1223479618
|
|
|
NM_001172509.2(SATB2):c.1865C>T (p.Ser622Phe)
|
|
|
|
NM_001172509.2(SATB2):c.1881G>A (p.Gly627=)
|
|
|
|
NM_001172509.2(SATB2):c.1887C>T (p.Leu629=)
|
rs2105707174
|
|
|
NM_001172509.2(SATB2):c.1905T>C (p.Asp635=)
|
|
|
|
NM_001172509.2(SATB2):c.1918C>T (p.Pro640Ser)
|
|
|
|
NM_001172509.2(SATB2):c.1940C>A (p.Thr647Asn)
|
|
|
|
NM_001172509.2(SATB2):c.1962C>T (p.Leu654=)
|
|
|
|
NM_001172509.2(SATB2):c.1970A>G (p.His657Arg)
|
rs2105707013
|
|
|
NM_001172509.2(SATB2):c.1977C>T (p.Ile659=)
|
rs1574458924
|
|
|
NM_001172509.2(SATB2):c.1995C>A (p.Asn665Lys)
|
rs1692187554
|
|
|
NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu)
|
rs1559136030
|
|
|
NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs)
|
rs1692186575
|
|
|
NM_001172509.2(SATB2):c.2010G>A (p.Val670=)
|
|
|
|
NM_001172509.2(SATB2):c.2015A>G (p.His672Arg)
|
|
|
|
NM_001172509.2(SATB2):c.201G>A (p.Glu67=)
|
rs924915744
|
|
|
NM_001172509.2(SATB2):c.2020G>A (p.Gly674Arg)
|
|
|
|
NM_001172509.2(SATB2):c.2024A>C (p.Lys675Thr)
|
|
|
|
NM_001172509.2(SATB2):c.2026C>A (p.Leu676Met)
|
|
|
|
NM_001172509.2(SATB2):c.202C>G (p.Gln68Glu)
|
|
|
|
NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)
|
|
|
|
NM_001172509.2(SATB2):c.2038C>G (p.Leu680Val)
|
|
|
|
NM_001172509.2(SATB2):c.2049G>A (p.Ala683=)
|
|
|
|
NM_001172509.2(SATB2):c.204G>A (p.Gln68=)
|
rs2105929040
|
|
|
NM_001172509.2(SATB2):c.205T>C (p.Leu69=)
|
rs745323861
|
|
|
NM_001172509.2(SATB2):c.2074G>A (p.Glu692Lys)
|
rs1559135904
|
|
|
NM_001172509.2(SATB2):c.2088C>A (p.Thr696=)
|
rs143484322
|
|
|
NM_001172509.2(SATB2):c.2089G>A (p.Glu697Lys)
|
|
|
|
NM_001172509.2(SATB2):c.2104G>A (p.Asp702Asn)
|
|
|
|
NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)
|
|
|
|
NM_001172509.2(SATB2):c.2116G>A (p.Gly706Ser)
|
rs1553538875
|
|
|
NM_001172509.2(SATB2):c.2119T>C (p.Ser707Pro)
|
|
|
|
NM_001172509.2(SATB2):c.2125G>A (p.Glu709Lys)
|
rs1574458712
|
|
|
NM_001172509.2(SATB2):c.2126A>G (p.Glu709Gly)
|
rs2105706602
|
|
|
NM_001172509.2(SATB2):c.2130G>C (p.Met710Ile)
|
rs1286415699
|
|
|
NM_001172509.2(SATB2):c.214T>C (p.Ser72Pro)
|
|
|
|
NM_001172509.2(SATB2):c.2151G>A (p.Glu717=)
|
|
|
|
NM_001172509.2(SATB2):c.2158G>A (p.Ala720Thr)
|
rs531933724
|
|
|
NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)
|
|
|
|
NM_001172509.2(SATB2):c.2164A>C (p.Lys722Gln)
|
rs2105706499
|
|
|
NM_001172509.2(SATB2):c.2167del (p.Ser723fs)
|
|
|
|
NM_001172509.2(SATB2):c.2172G>A (p.Lys724=)
|
rs915648697
|
|
|
NM_001172509.2(SATB2):c.2174C>T (p.Ala725Val)
|
rs767329844
|
|
|
NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val)
|
rs2105706426
|
|
|
NM_001172509.2(SATB2):c.2178A>G (p.Ala726=)
|
rs768447747
|
|
|
NM_001172509.2(SATB2):c.2184C>A (p.Ala728=)
|
|
|
|
NM_001172509.2(SATB2):c.2185G>A (p.Glu729Lys)
|
rs1489038642
|
|
|
NM_001172509.2(SATB2):c.2189T>C (p.Ile730Thr)
|
rs373319001
|
|
|
NM_001172509.2(SATB2):c.2190T>A (p.Ile730=)
|
rs1692178208
|
|
|
NM_001172509.2(SATB2):c.225T>C (p.Tyr75=)
|
rs1357010510
|
|
|
NM_001172509.2(SATB2):c.232A>C (p.Arg78=)
|
|
|
|
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys)
|
rs767582582
|
|
|
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
|
|
|
|
NM_001172509.2(SATB2):c.246C>T (p.Ala82=)
|
rs146889022
|
|
|
NM_001172509.2(SATB2):c.263G>A (p.Arg88Gln)
|
rs530118484
|
|
|
NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)
|
|
|
|
NM_001172509.2(SATB2):c.273G>A (p.Val91=)
|
|
|
|
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
|
|
|
|
NM_001172509.2(SATB2):c.282C>T (p.Ser94=)
|
|
|
|
NM_001172509.2(SATB2):c.282_289dup (p.Val97fs)
|
rs2105928888
|
|
|
NM_001172509.2(SATB2):c.297T>C (p.Thr99=)
|
rs2105928877
|
|
|
NM_001172509.2(SATB2):c.304C>T (p.Leu102=)
|
rs1574625153
|
|
|
NM_001172509.2(SATB2):c.318T>C (p.Tyr106=)
|
rs1330378388
|
|
|
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter)
|
rs1330378388
|
|
|
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
|
|
|
|
NM_001172509.2(SATB2):c.333G>A (p.Ala111=)
|
rs140116634
|
|
|
NM_001172509.2(SATB2):c.343C>G (p.Gln115Glu)
|
rs1559052032
|
|
|
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter)
|
rs1559052032
|
|
|
NM_001172509.2(SATB2):c.346+11C>T
|
|
|
|
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
|
|
|
|
NM_001172509.2(SATB2):c.346+18C>A
|
|
|
|
NM_001172509.2(SATB2):c.346+1G>A
|
rs2105928782
|
|
|
NM_001172509.2(SATB2):c.346+2T>A
|
rs1559052017
|
|
|
NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)
|
|
|
|
NM_001172509.2(SATB2):c.347-20T>C
|
rs1309984102
|
|
|
NM_001172509.2(SATB2):c.347-4G>A
|
|
|
|
NM_001172509.2(SATB2):c.357G>A (p.Lys119=)
|
rs1185687010
|
|
|
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
|
|
|
|
NM_001172509.2(SATB2):c.365G>C (p.Arg122Thr)
|
rs1182083147
|
|
|
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)
|
rs1574568704
|
|
|
NM_001172509.2(SATB2):c.390T>C (p.Tyr130=)
|
|
|
|
NM_001172509.2(SATB2):c.399T>G (p.Asp133Glu)
|
rs1574568652
|
|
|
NM_001172509.2(SATB2):c.402A>G (p.Ala134=)
|
|
|
|
NM_001172509.2(SATB2):c.424A>G (p.Met142Val)
|
rs751779659
|
|
|
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile)
|
rs764205432
|
|
|
NM_001172509.2(SATB2):c.429A>G (p.Leu143=)
|
rs758472659
|
|
|
NM_001172509.2(SATB2):c.429A>T (p.Leu143=)
|
rs758472659
|
|
|
NM_001172509.2(SATB2):c.438C>A (p.Val146=)
|
rs1553496383
|
|
|
NM_001172509.2(SATB2):c.444T>C (p.His148=)
|
|
|
|
NM_001172509.2(SATB2):c.452C>T (p.Thr151Met)
|
|
|
|
NM_001172509.2(SATB2):c.46C>A (p.Arg16=)
|
rs937799874
|
|
|
NM_001172509.2(SATB2):c.473+10T>C
|
rs1257456365
|
|
|
NM_001172509.2(SATB2):c.473+15_473+17del
|
|
|
|
NM_001172509.2(SATB2):c.473+16C>T
|
|
|
|
NM_001172509.2(SATB2):c.473+17A>T
|
|
|
|
NM_001172509.2(SATB2):c.474-11C>G
|
|
|
|
NM_001172509.2(SATB2):c.474-14G>A
|
|
|
|
NM_001172509.2(SATB2):c.47G>C (p.Arg16Pro)
|
|
|
|
NM_001172509.2(SATB2):c.51G>A (p.Arg17=)
|
|
|
|
NM_001172509.2(SATB2):c.526C>T (p.Arg176Cys)
|
|
|
|
NM_001172509.2(SATB2):c.537A>G (p.Leu179=)
|
rs2105865933
|
|
|
NM_001172509.2(SATB2):c.540G>A (p.Lys180=)
|
rs1459002785
|
|
|
NM_001172509.2(SATB2):c.543A>G (p.Glu181=)
|
|
|
|
NM_001172509.2(SATB2):c.552A>G (p.Lys184=)
|
|
|
|
NM_001172509.2(SATB2):c.554del (p.Glu185fs)
|
rs2105865877
|
|
|
NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter)
|
rs1391758713
|
|
|
NM_001172509.2(SATB2):c.588_595del (p.Leu197fs)
|
rs2105865785
|
|
|
NM_001172509.2(SATB2):c.591C>T (p.Leu197=)
|
rs1574566787
|
|
|
NM_001172509.2(SATB2):c.594C>G (p.Ser198=)
|
rs747345430
|
|
|
NM_001172509.2(SATB2):c.597+15G>A
|
|
|
|
NM_001172509.2(SATB2):c.597+18G>A
|
|
|
|
NM_001172509.2(SATB2):c.597+20G>A
|
|
|
|
NM_001172509.2(SATB2):c.598-13T>C
|
|
|
|
NM_001172509.2(SATB2):c.598-13dup
|
rs199978702
|
|
|
NM_001172509.2(SATB2):c.598-17A>G
|
|
|
|
NM_001172509.2(SATB2):c.598-4T>C
|
|
|
|
NM_001172509.2(SATB2):c.598-4del
|
rs199978702
|
|
|
NM_001172509.2(SATB2):c.612C>T (p.Ser204=)
|
rs2105850112
|
|
|
NM_001172509.2(SATB2):c.627A>G (p.Thr209=)
|
rs1689357972
|
|
|
NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)
|
|
|
|
NM_001172509.2(SATB2):c.63G>A (p.Pro21=)
|
rs2105957272
|
|
|
NM_001172509.2(SATB2):c.663G>A (p.Glu221=)
|
|
|
|
NM_001172509.2(SATB2):c.678T>C (p.Tyr226=)
|
|
|
|
NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)
|
|
|
|
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
|
|
|
|
NM_001172509.2(SATB2):c.6G>A (p.Glu2=)
|
|
|
|
NM_001172509.2(SATB2):c.700+11T>C
|
|
|
|
NM_001172509.2(SATB2):c.700+1G>A
|
|
|
|
NM_001172509.2(SATB2):c.700+20T>C
|
|
|
|
NM_001172509.2(SATB2):c.700+6del
|
rs1574554422
|
|
|
NM_001172509.2(SATB2):c.700+9dup
|
|
|
|
NM_001172509.2(SATB2):c.701-12A>C
|
rs116585116
|
|
|
NM_001172509.2(SATB2):c.701-8C>T
|
rs2105823726
|
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
|
NM_001172509.2(SATB2):c.723C>A (p.Asn241Lys)
|
rs752232729
|
|
|
NM_001172509.2(SATB2):c.723C>T (p.Asn241=)
|
|
|
|
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
|
|
|
|
NM_001172509.2(SATB2):c.729A>G (p.Ser243=)
|
|
|
|
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu)
|
rs766855879
|
|
|
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
|
|
|
|
NM_001172509.2(SATB2):c.750G>A (p.Gln250=)
|
rs1688739636
|
|
|
NM_001172509.2(SATB2):c.752G>A (p.Arg251His)
|
rs2105823583
|
|
|
NM_001172509.2(SATB2):c.75dup (p.Pro26fs)
|
|
|
|
NM_001172509.2(SATB2):c.762_765dup (p.Pro256fs)
|
|
|
|
NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser)
|
rs2105823534
|
|
|
NM_001172509.2(SATB2):c.773T>C (p.Met258Thr)
|
|
|
|
NM_001172509.2(SATB2):c.779A>C (p.Gln260Pro)
|
|
|
|
NM_001172509.2(SATB2):c.78T>G (p.Pro26=)
|
|
|
|
NM_001172509.2(SATB2):c.790C>T (p.Leu264=)
|
rs1316738790
|
|
|
NM_001172509.2(SATB2):c.792G>A (p.Leu264=)
|
|
|
|
NM_001172509.2(SATB2):c.801C>T (p.Thr267=)
|
|
|
|
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser)
|
rs375141410
|
|
|
NM_001172509.2(SATB2):c.806A>C (p.Glu269Ala)
|
|
|
|
NM_001172509.2(SATB2):c.813T>C (p.Ser271=)
|
rs777362152
|
|
|
NM_001172509.2(SATB2):c.81C>T (p.Pro27=)
|
|
|
|
NM_001172509.2(SATB2):c.825A>G (p.Gln275=)
|
rs995750176
|
|
|
NM_001172509.2(SATB2):c.829C>G (p.His277Asp)
|
|
|
|
NM_001172509.2(SATB2):c.833A>G (p.His278Arg)
|
rs1688736232
|
|
|
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala)
|
rs752392251
|
|
|
NM_001172509.2(SATB2):c.844A>G (p.Ile282Val)
|
rs1688735770
|
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
|
NM_001172509.2(SATB2):c.848G>A (p.Arg283Gln)
|
|
|
|
NM_001172509.2(SATB2):c.855A>G (p.Gln285=)
|
rs904363589
|
|
|
NM_001172509.2(SATB2):c.859C>T (p.Pro287Ser)
|
rs768080548
|
|
|
NM_001172509.2(SATB2):c.861C>T (p.Pro287=)
|
rs762230959
|
|
|
NM_001172509.2(SATB2):c.874A>C (p.Ile292Leu)
|
|
|
|
NM_001172509.2(SATB2):c.879G>A (p.Met293Ile)
|
|
|
|
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)
|
|
|
|
NM_001172509.2(SATB2):c.889C>T (p.Leu297Phe)
|
rs759677622
|
|
|
NM_001172509.2(SATB2):c.8G>C (p.Arg3Pro)
|
|
|
|
NM_001172509.2(SATB2):c.909T>C (p.Ser303=)
|
|
|
|
NM_001172509.2(SATB2):c.912A>T (p.Pro304=)
|
|
|
|
NM_001172509.2(SATB2):c.917T>A (p.Leu306His)
|
rs1688732391
|
|
|
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
|
|
|
|
NM_001172509.2(SATB2):c.927A>C (p.Gln309His)
|
|
|
|
NM_001172509.2(SATB2):c.927A>G (p.Gln309=)
|
|
|
|
NM_001172509.2(SATB2):c.942C>G (p.Ala314=)
|
|
|
|
NM_001172509.2(SATB2):c.966C>A (p.Ala322=)
|
rs139350909
|
|
|
NM_001172509.2(SATB2):c.966C>T (p.Ala322=)
|
|
|
|
NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)
|
|
|
|
NM_001172509.2(SATB2):c.972C>T (p.Ser324=)
|
|
|
|
NM_001172509.2(SATB2):c.974G>A (p.Arg325Gln)
|
rs1559175031
|
|
|
NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
|
|
|
|
NM_001172509.2(SATB2):c.983C>A (p.Ala328Asp)
|
rs2105823140
|
|
|
NM_001172509.2(SATB2):c.994C>A (p.Pro332Thr)
|
|
|
|
NM_001172509.2(SATB2):c.996T>A (p.Pro332=)
|
|
|
|
NM_001172509.2(SATB2):c.9G>A (p.Arg3=)
|
rs1204178808
|
|
|
NM_001211.6(BUB1B):c.1002C>T (p.Pro334=)
|
|
|
|
NM_001211.6(BUB1B):c.1003G>A (p.Ala335Thr)
|
rs145184714
|
|
|
NM_001211.6(BUB1B):c.1004C>G (p.Ala335Gly)
|
rs762332962
|
|
|
NM_001211.6(BUB1B):c.1014C>T (p.Pro338=)
|
|
|
|
NM_001211.6(BUB1B):c.1030G>A (p.Val344Met)
|
|
|
|
NM_001211.6(BUB1B):c.1042G>A (p.Ala348Thr)
|
|
|
|
NM_001211.6(BUB1B):c.1042G>C (p.Ala348Pro)
|
rs777810016
|
|
|
NM_001211.6(BUB1B):c.1052C>T (p.Pro351Leu)
|
rs1453705308
|
|
|
NM_001211.6(BUB1B):c.1058+16G>C
|
|
|
|
NM_001211.6(BUB1B):c.1058+17G>A
|
|
|
|
NM_001211.6(BUB1B):c.1058+7G>A
|
|
|
|
NM_001211.6(BUB1B):c.1058+8_1058+9del
|
rs1217693564
|
|
|
NM_001211.6(BUB1B):c.1059-3T>C
|
|
|
|
NM_001211.6(BUB1B):c.1059-7del
|
rs770579508
|
|
|
NM_001211.6(BUB1B):c.105G>C (p.Gly35=)
|
|
|
|
NM_001211.6(BUB1B):c.1060A>G (p.Thr354Ala)
|
|
|
|
NM_001211.6(BUB1B):c.1069A>C (p.Lys357Gln)
|
rs1264518438
|
|
|
NM_001211.6(BUB1B):c.106C>A (p.Arg36=)
|
|
|
|
NM_001211.6(BUB1B):c.106C>T (p.Arg36Trp)
|
|
|
|
NM_001211.6(BUB1B):c.1071A>G (p.Lys357=)
|
rs1595526276
|
|
|
NM_001211.6(BUB1B):c.1079C>G (p.Pro360Arg)
|
rs1060499942
|
|
|
NM_001211.6(BUB1B):c.1088A>G (p.Asn363Ser)
|
|
|
|
NM_001211.6(BUB1B):c.1100G>A (p.Ser367Asn)
|
rs1365938809
|
|
|
NM_001211.6(BUB1B):c.1127_1128delinsTT (p.Gly376Val)
|
rs386783327
|
|
|
NM_001211.6(BUB1B):c.1137A>G (p.Leu379=)
|
rs770658836
|
|
|
NM_001211.6(BUB1B):c.1139A>C (p.Gln380Pro)
|
rs990478595
|
|
|
NM_001211.6(BUB1B):c.1141del (p.Arg381fs)
|
|
|
|
NM_001211.6(BUB1B):c.114G>C (p.Met38Ile)
|
rs2140878505
|
|
|
NM_001211.6(BUB1B):c.1164G>T (p.Ala388=)
|
rs1047130
|
|
|
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del)
|
rs778590557
|
|
|
NM_001211.6(BUB1B):c.1176G>A (p.Lys392=)
|
|
|
|
NM_001211.6(BUB1B):c.1179A>G (p.Lys393=)
|
|
|
|
NM_001211.6(BUB1B):c.1184A>G (p.Lys395Arg)
|
rs2037501965
|
|
|
NM_001211.6(BUB1B):c.1187T>C (p.Met396Thr)
|
rs923688322
|
|
|
NM_001211.6(BUB1B):c.1189A>T (p.Met397Leu)
|
|
|
|
NM_001211.6(BUB1B):c.1198A>T (p.Lys400Ter)
|
|
|
|
NM_001211.6(BUB1B):c.1203G>C (p.Glu401Asp)
|
rs1595526383
|
|
|
NM_001211.6(BUB1B):c.1209T>A (p.Ile403=)
|
rs765503426
|
|
|
NM_001211.6(BUB1B):c.120G>A (p.Thr40=)
|
rs960840123
|
|
|
NM_001211.6(BUB1B):c.1213G>T (p.Ala405Ser)
|
rs1333792633
|
|
|
NM_001211.6(BUB1B):c.1228T>C (p.Phe410Leu)
|
rs2140898509
|
|
|
NM_001211.6(BUB1B):c.1243A>G (p.Ile415Val)
|
rs2140898521
|
|
|
NM_001211.6(BUB1B):c.1246C>A (p.Arg416=)
|
|
|
|
NM_001211.6(BUB1B):c.1247G>T (p.Arg416Leu)
|
rs763272400
|
|
|
NM_001211.6(BUB1B):c.1255G>T (p.Val419Phe)
|
rs2037503291
|
|
|
NM_001211.6(BUB1B):c.1259T>C (p.Phe420Ser)
|
rs2140898529
|
|
|
NM_001211.6(BUB1B):c.1265A>G (p.Lys422Arg)
|
|
|
|
NM_001211.6(BUB1B):c.1280A>G (p.Gln427Arg)
|
rs2037503673
|
|
|
NM_001211.6(BUB1B):c.1288+12T>C
|
rs994138926
|
|
|
NM_001211.6(BUB1B):c.1288+18T>G
|
|
|
|
NM_001211.6(BUB1B):c.1289-11A>C
|
|
|
|
NM_001211.6(BUB1B):c.128G>A (p.Gly43Glu)
|
|
|
|
NM_001211.6(BUB1B):c.1296A>G (p.Leu432=)
|
rs908144833
|
|
|
NM_001211.6(BUB1B):c.1298T>A (p.Leu433Ter)
|
rs2140900203
|
|
|
NM_001211.6(BUB1B):c.1302del (p.Ser435fs)
|
|
|
|
NM_001211.6(BUB1B):c.1310A>G (p.Glu437Gly)
|
|
|
|
NM_001211.6(BUB1B):c.1313_1317del (p.Lys438fs)
|
|
|
|
NM_001211.6(BUB1B):c.1338T>C (p.Ile446=)
|
|
|
|
NM_001211.6(BUB1B):c.1346T>C (p.Met449Thr)
|
|
|
|
NM_001211.6(BUB1B):c.1351A>G (p.Lys451Glu)
|
rs1566824564
|
|
|
NM_001211.6(BUB1B):c.136G>A (p.Ala46Thr)
|
rs750858057
|
|
|
NM_001211.6(BUB1B):c.1373C>G (p.Thr458Ser)
|
|
|
|
NM_001211.6(BUB1B):c.1378C>T (p.Gln460Ter)
|
|
|
|
NM_001211.6(BUB1B):c.1387A>T (p.Arg463Ter)
|
rs1566824608
|
|
|
NM_001211.6(BUB1B):c.1391C>T (p.Thr464Ile)
|
rs1431082197
|
|
|
NM_001211.6(BUB1B):c.1393G>C (p.Gly465Arg)
|
rs948366328
|
|
|
NM_001211.6(BUB1B):c.1397A>C (p.Asp466Ala)
|
rs587778140
|
|
|
NM_001211.6(BUB1B):c.139C>A (p.Gln47Lys)
|
|
|
|
NM_001211.6(BUB1B):c.1400A>G (p.Gln467Arg)
|
|
|
|
NM_001211.6(BUB1B):c.1401+20A>G
|
|
|
|
NM_001211.6(BUB1B):c.140A>C (p.Gln47Pro)
|
|
|
|
NM_001211.6(BUB1B):c.1413G>A (p.Thr471=)
|
rs374560564
|
|
|
NM_001211.6(BUB1B):c.1414A>C (p.Met472Leu)
|
rs2037548728
|
|
|
NM_001211.6(BUB1B):c.1441C>T (p.Gln481Ter)
|
rs2140900615
|
|
|
NM_001211.6(BUB1B):c.1449T>C (p.Ala483=)
|
rs755711414
|
|
|
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)
|
rs770704003
|
|
|
NM_001211.6(BUB1B):c.1454A>C (p.Glu485Ala)
|
rs778632806
|
|
|
NM_001211.6(BUB1B):c.1466_1470dup (p.Gly491fs)
|
rs2140900652
|
|
|
NM_001211.6(BUB1B):c.1482A>G (p.Leu494=)
|
|
|
|
NM_001211.6(BUB1B):c.1492_1493delinsTA (p.Val498Tyr)
|
rs2037550680
|
|
|
NM_001211.6(BUB1B):c.1508G>A (p.Cys503Tyr)
|
rs765632100
|
|
|
NM_001211.6(BUB1B):c.1512T>G (p.Cys504Trp)
|
|
|
|
NM_001211.6(BUB1B):c.1515C>T (p.Ala505=)
|
|
|
|
NM_001211.6(BUB1B):c.1517+10C>T
|
rs373689524
|
|
|
NM_001211.6(BUB1B):c.1517+15G>C
|
|
|
|
NM_001211.6(BUB1B):c.1517+20del
|
|
|
|
NM_001211.6(BUB1B):c.1517+9A>G
|
|
|
|
NM_001211.6(BUB1B):c.1517G>A (p.Arg506Lys)
|
rs2140900695
|
|
|
NM_001211.6(BUB1B):c.1518-5T>C
|
|
|
|
NM_001211.6(BUB1B):c.1519G>A (p.Glu507Lys)
|
|
|
|
NM_001211.6(BUB1B):c.1538A>G (p.Asn513Ser)
|
|
|
|
NM_001211.6(BUB1B):c.1542T>G (p.Ile514Met)
|
|
|
|
NM_001211.6(BUB1B):c.1546C>G (p.Gln516Glu)
|
rs1384516309
|
|
|
NM_001211.6(BUB1B):c.1568-12C>G
|
|
|
|
NM_001211.6(BUB1B):c.1568-15TC[2]
|
|
|
|
NM_001211.6(BUB1B):c.1568-16G>T
|
rs372690199
|
|
|
NM_001211.6(BUB1B):c.1568-3T>C
|
rs1326404435
|
|
|
NM_001211.6(BUB1B):c.1568-5T>A
|
rs2140901848
|
|
|
NM_001211.6(BUB1B):c.1568-8_1568-5del
|
rs751787026
|
|
|
NM_001211.6(BUB1B):c.1568G>T (p.Gly523Val)
|
|
|
|
NM_001211.6(BUB1B):c.1575T>C (p.Ser525=)
|
|
|
|
NM_001211.6(BUB1B):c.1590T>A (p.Ile530=)
|
rs777968728
|
|
|
NM_001211.6(BUB1B):c.1590T>G (p.Ile530Met)
|
|
|
|
NM_001211.6(BUB1B):c.159T>C (p.Asn53=)
|
|
|
|
NM_001211.6(BUB1B):c.1602T>G (p.Phe534Leu)
|
|
|
|
NM_001211.6(BUB1B):c.1611A>G (p.Ser537=)
|
rs1595529407
|
|
|
NM_001211.6(BUB1B):c.1617GAA[1] (p.Lys540del)
|
rs587778141
|
|
|
NM_001211.6(BUB1B):c.1620G>A (p.Lys540=)
|
rs2140901896
|
|
|
NM_001211.6(BUB1B):c.1624A>G (p.Lys542Glu)
|
rs1446416934
|
|
|
NM_001211.6(BUB1B):c.1628+11T>C
|
|
|
|
NM_001211.6(BUB1B):c.1628+15T>G
|
|
|
|
NM_001211.6(BUB1B):c.1628+15dup
|
rs943601909
|
|
|
NM_001211.6(BUB1B):c.1628+16G>T
|
|
|
|
NM_001211.6(BUB1B):c.1628+17_1628+24del
|
rs755262880
|
|
|
NM_001211.6(BUB1B):c.1628+18T>G
|
|
|
|
NM_001211.6(BUB1B):c.1628+20T>C
|
|
|
|
NM_001211.6(BUB1B):c.1628+23dup
|
rs748561005
|
|
|
NM_001211.6(BUB1B):c.1628+24_1628+31del
|
|
|
|
NM_001211.6(BUB1B):c.1628+24_1628+32del
|
rs555567065
|
|
|
NM_001211.6(BUB1B):c.1628+8G>A
|
|
|
|
NM_001211.6(BUB1B):c.1629-17G>A
|
|
|
|
NM_001211.6(BUB1B):c.1637C>T (p.Ala546Val)
|
|
|
|
NM_001211.6(BUB1B):c.1638A>G (p.Ala546=)
|
|
|
|
NM_001211.6(BUB1B):c.163C>G (p.Leu55Val)
|
rs2037081264
|
|
|
NM_001211.6(BUB1B):c.164T>C (p.Leu55Pro)
|
rs1221553263
|
|
|
NM_001211.6(BUB1B):c.1652T>G (p.Val551Gly)
|
rs2037587414
|
|
|
NM_001211.6(BUB1B):c.1663C>T (p.Arg555Ter)
|
|
|
|
NM_001211.6(BUB1B):c.1664G>C (p.Arg555Pro)
|
|
|
|
NM_001211.6(BUB1B):c.1670C>G (p.Pro557Arg)
|
rs943659464
|
|
|
NM_001211.6(BUB1B):c.1677A>G (p.Ala559=)
|
|
|
|
NM_001211.6(BUB1B):c.1678G>A (p.Val560Ile)
|
rs1221831901
|
|
|
NM_001211.6(BUB1B):c.1682T>C (p.Leu561Pro)
|
|
|
|
NM_001211.6(BUB1B):c.1685A>G (p.Lys562Arg)
|
rs1289685422
|
|
|
NM_001211.6(BUB1B):c.1688C>A (p.Thr563Asn)
|
|
|
|
NM_001211.6(BUB1B):c.1690T>A (p.Ser564Thr)
|
rs2037588264
|
|
|
NM_001211.6(BUB1B):c.1693G>A (p.Glu565Lys)
|
|
|
|
NM_001211.6(BUB1B):c.1693G>C (p.Glu565Gln)
|
rs893593630
|
|
|
NM_001211.6(BUB1B):c.169C>T (p.Gln57Ter)
|
rs2140878554
|
|
|
NM_001211.6(BUB1B):c.171G>A (p.Gln57=)
|
rs777530306
|
|
|
NM_001211.6(BUB1B):c.171G>C (p.Gln57His)
|
|
|
|
NM_001211.6(BUB1B):c.172C>A (p.Gln58Lys)
|
rs1308870659
|
|
|
NM_001211.6(BUB1B):c.1734+16C>T
|
|
|
|
NM_001211.6(BUB1B):c.1734+9C>T
|
|
|
|
NM_001211.6(BUB1B):c.1734T>G (p.Cys578Trp)
|
rs2037589344
|
|
|
NM_001211.6(BUB1B):c.1735-20T>A
|
|
|
|
NM_001211.6(BUB1B):c.1743del (p.Phe581fs)
|
|
|
|
NM_001211.6(BUB1B):c.1757C>G (p.Pro586Arg)
|
|
|
|
NM_001211.6(BUB1B):c.1760T>G (p.Leu587Trp)
|
|
|
|
NM_001211.6(BUB1B):c.1763G>A (p.Ser588Asn)
|
|
|
|
NM_001211.6(BUB1B):c.1764C>T (p.Ser588=)
|
rs759148358
|
|
|
NM_001211.6(BUB1B):c.1765G>A (p.Glu589Lys)
|
rs1295030829
|
|
|
NM_001211.6(BUB1B):c.1774A>G (p.Ile592Val)
|
|
|
|
NM_001211.6(BUB1B):c.1783G>A (p.Gly595Ser)
|
|
|
|
NM_001211.6(BUB1B):c.178C>G (p.Arg60Gly)
|
rs748915007
|
|
|
NM_001211.6(BUB1B):c.179+15T>C
|
rs1425948264
|
|
|
NM_001211.6(BUB1B):c.179+8G>A
|
|
|
|
NM_001211.6(BUB1B):c.1792A>T (p.Asn598Tyr)
|
|
|
|
NM_001211.6(BUB1B):c.179G>A (p.Arg60Gln)
|
|
|
|
NM_001211.6(BUB1B):c.180-15C>T
|
|
|
|
NM_001211.6(BUB1B):c.180-3C>G
|
|
|
|
NM_001211.6(BUB1B):c.1801A>G (p.Ile601Val)
|
rs1425763171
|
|
|
NM_001211.6(BUB1B):c.1815A>T (p.Pro605=)
|
rs778374888
|
|
|
NM_001211.6(BUB1B):c.1842A>G (p.Ala614=)
|
rs2037635438
|
|
|
NM_001211.6(BUB1B):c.1846C>T (p.Arg616Cys)
|
rs1429608588
|
|
|
NM_001211.6(BUB1B):c.1847G>C (p.Arg616Pro)
|
rs556193159
|
|
|
NM_001211.6(BUB1B):c.184T>C (p.Phe62Leu)
|
|
|
|
NM_001211.6(BUB1B):c.1873A>G (p.Ile625Val)
|
rs1431396417
|
|
|
NM_001211.6(BUB1B):c.1877T>C (p.Met626Thr)
|
rs1359983479
|
|
|
NM_001211.6(BUB1B):c.1879T>C (p.Ser627Pro)
|
rs587778142
|
|
|
NM_001211.6(BUB1B):c.1897T>A (p.Ser633Thr)
|
rs765505645
|
|
|
NM_001211.6(BUB1B):c.1906del (p.Glu636fs)
|
rs2140904074
|
|
|
NM_001211.6(BUB1B):c.1910G>A (p.Arg637Lys)
|
rs2140904085
|
|
|
NM_001211.6(BUB1B):c.1938A>G (p.Val646=)
|
rs1189177411
|
|
|
NM_001211.6(BUB1B):c.1954C>T (p.Gln652Ter)
|
rs1401171363
|
|
|
NM_001211.6(BUB1B):c.1955A>G (p.Gln652Arg)
|
rs1158333848
|
|
|
NM_001211.6(BUB1B):c.1962A>G (p.Thr654=)
|
|
|
|
NM_001211.6(BUB1B):c.1971C>T (p.Gly657=)
|
|
|
|
NM_001211.6(BUB1B):c.1980C>T (p.Tyr660=)
|
rs564719711
|
|
|
NM_001211.6(BUB1B):c.1982G>A (p.Ser661Asn)
|
rs746933398
|
|
|
NM_001211.6(BUB1B):c.1982G>C (p.Ser661Thr)
|
rs746933398
|
|
|
NM_001211.6(BUB1B):c.1983_1994del (p.Gln662_Ser665del)
|
|
|
|
NM_001211.6(BUB1B):c.1985A>G (p.Gln662Arg)
|
rs2037638055
|
|
|
NM_001211.6(BUB1B):c.1988C>T (p.Thr663Ile)
|
rs2037638096
|
|
|
NM_001211.6(BUB1B):c.19G>A (p.Glu7Lys)
|
rs1218056057
|
|
|
NM_001211.6(BUB1B):c.2007G>A (p.Leu669=)
|
rs2140904163
|
|
|
NM_001211.6(BUB1B):c.2009+10G>A
|
|
|
|
NM_001211.6(BUB1B):c.2010-16T>C
|
|
|
|
NM_001211.6(BUB1B):c.2025C>T (p.Asp675=)
|
rs143559902
|
|
|
NM_001211.6(BUB1B):c.2029C>T (p.Arg677Cys)
|
|
|
|
NM_001211.6(BUB1B):c.2037C>T (p.Ala679=)
|
rs1595532884
|
|
|
NM_001211.6(BUB1B):c.2042A>C (p.His681Pro)
|
rs761234125
|
|
|
NM_001211.6(BUB1B):c.2045C>T (p.Ser682Phe)
|
|
|
|
NM_001211.6(BUB1B):c.2046C>T (p.Ser682=)
|
rs2140905546
|
|
|
NM_001211.6(BUB1B):c.2062T>A (p.Ser688Thr)
|
rs2037668271
|
|
|
NM_001211.6(BUB1B):c.2073G>A (p.Ser691=)
|
rs765906277
|
|
|
NM_001211.6(BUB1B):c.2073G>T (p.Ser691=)
|
|
|
|
NM_001211.6(BUB1B):c.2099G>A (p.Cys700Tyr)
|
|
|
|
NM_001211.6(BUB1B):c.209C>T (p.Thr70Ile)
|
rs769980774
|
|
|
NM_001211.6(BUB1B):c.2111C>T (p.Pro704Leu)
|
rs1225413973
|
|
|
NM_001211.6(BUB1B):c.2119C>T (p.Leu707=)
|
rs1595532945
|
|
|
NM_001211.6(BUB1B):c.211G>A (p.Gly71Arg)
|
rs2037144496
|
|
|
NM_001211.6(BUB1B):c.2122G>C (p.Glu708Gln)
|
|
|
|
NM_001211.6(BUB1B):c.2123A>G (p.Glu708Gly)
|
|
|
|
NM_001211.6(BUB1B):c.2137A>C (p.Thr713Pro)
|
rs2140905623
|
|
|
NM_001211.6(BUB1B):c.2139T>C (p.Thr713=)
|
|
|
|
NM_001211.6(BUB1B):c.2140T>G (p.Ser714Ala)
|
|
|
|
NM_001211.6(BUB1B):c.2142A>G (p.Ser714=)
|
rs778939108
|
|
|
NM_001211.6(BUB1B):c.2143+15_2143+16delinsTT
|
|
|
|
NM_001211.6(BUB1B):c.2143+4G>C
|
|
|
|
NM_001211.6(BUB1B):c.2143G>A (p.Glu715Lys)
|
rs2037670357
|
|
|
NM_001211.6(BUB1B):c.2144-13C>T
|
|
|
|
NM_001211.6(BUB1B):c.2144-14C>G
|
|
|
|
NM_001211.6(BUB1B):c.2144-2dup
|
|
|
|
NM_001211.6(BUB1B):c.2144-4G>A
|
rs778833334
|
|
|
NM_001211.6(BUB1B):c.2144-4_2144-3del
|
|
|
|
NM_001211.6(BUB1B):c.2144-5G>A
|
rs2037684260
|
|
|
NM_001211.6(BUB1B):c.2144-6T>C
|
rs1595533439
|
|
|
NM_001211.6(BUB1B):c.2153del (p.Thr718fs)
|
|
|
|
NM_001211.6(BUB1B):c.2156A>T (p.Gln719Leu)
|
|
|
|
NM_001211.6(BUB1B):c.2160A>T (p.Ser720=)
|
rs1042530525
|
|
|
NM_001211.6(BUB1B):c.2174A>C (p.Gln725Pro)
|
rs2140906180
|
|
|
NM_001211.6(BUB1B):c.2175G>A (p.Gln725=)
|
|
|
|
NM_001211.6(BUB1B):c.2179C>T (p.Arg727Cys)
|
rs577591919
|
|
|
NM_001211.6(BUB1B):c.218A>G (p.Asp73Gly)
|
rs2140881461
|
|
|
NM_001211.6(BUB1B):c.2192T>G (p.Leu731Arg)
|
|
|
|
NM_001211.6(BUB1B):c.21A>C (p.Glu7Asp)
|
rs1819687564
|
|
|
NM_001211.6(BUB1B):c.2208G>A (p.Glu736=)
|
rs2037685574
|
|
|
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs)
|
rs1392909108
|
|
|
NM_001211.6(BUB1B):c.2210del (p.Glu736_Leu737insTer)
|
rs2140906206
|
|
|
NM_001211.6(BUB1B):c.2231G>A (p.Cys744Tyr)
|
|
|
|
NM_001211.6(BUB1B):c.2238A>G (p.Glu746=)
|
|
|
|
NM_001211.6(BUB1B):c.2256G>A (p.Lys752=)
|
rs1555383502
|
|
|
NM_001211.6(BUB1B):c.2257T>C (p.Leu753=)
|
|
|
|
NM_001211.6(BUB1B):c.2264T>C (p.Ile755Thr)
|
|
|
|
NM_001211.6(BUB1B):c.2275A>G (p.Ile759Val)
|
|
|
|
NM_001211.6(BUB1B):c.2284+13G>A
|
|
|
|
NM_001211.6(BUB1B):c.2284+17T>A
|
|
|
|
NM_001211.6(BUB1B):c.2284+17T>G
|
rs13380241
|
|
|
NM_001211.6(BUB1B):c.2284+8C>A
|
|
|
|
NM_001211.6(BUB1B):c.2285-2A>G
|
|
|
|
NM_001211.6(BUB1B):c.2285-3C>A
|
rs2037692138
|
|
|
NM_001211.6(BUB1B):c.2285-3C>T
|
rs2037692138
|
|
|
NM_001211.6(BUB1B):c.2285-4A>G
|
rs1555383523
|
|
|
NM_001211.6(BUB1B):c.2292G>A (p.Glu764=)
|
rs2140906462
|
|
|
NM_001211.6(BUB1B):c.2294A>G (p.Asp765Gly)
|
rs765119108
|
|
|
NM_001211.6(BUB1B):c.2298C>G (p.Tyr766Ter)
|
|
|
|
NM_001211.6(BUB1B):c.2299T>C (p.Cys767Arg)
|
rs1429881927
|
|
|
NM_001211.6(BUB1B):c.22G>T (p.Gly8Trp)
|
|
|
|
NM_001211.6(BUB1B):c.2316C>G (p.Tyr772Ter)
|
rs1595533765
|
|
|
NM_001211.6(BUB1B):c.2323T>C (p.Cys775Arg)
|
rs1025942169
|
|
|
NM_001211.6(BUB1B):c.2328A>C (p.Glu776Asp)
|
rs2140906494
|
|
|
NM_001211.6(BUB1B):c.2334C>G (p.Tyr778Ter)
|
rs2037693105
|
|
|
NM_001211.6(BUB1B):c.2337G>A (p.Lys779=)
|
rs1301115559
|
|
|
NM_001211.6(BUB1B):c.2347G>A (p.Val783Met)
|
rs1338798216
|
|
|
NM_001211.6(BUB1B):c.2352G>A (p.Ala784=)
|
|
|
|
NM_001211.6(BUB1B):c.2352G>T (p.Ala784=)
|
|
|
|
NM_001211.6(BUB1B):c.2363_2364del (p.Ser788fs)
|
rs756459860
|
|
|
NM_001211.6(BUB1B):c.2385+6A>C
|
rs1432486988
|
|
|
NM_001211.6(BUB1B):c.2385G>A (p.Lys795=)
|
|
|
|
NM_001211.6(BUB1B):c.2385G>C (p.Lys795Asn)
|
rs1427050449
|
|
|
NM_001211.6(BUB1B):c.2386-10T>C
|
|
|
|
NM_001211.6(BUB1B):c.2386-2A>G
|
rs2037726277
|
|
|
NM_001211.6(BUB1B):c.2386-5T>C
|
|
|
|
NM_001211.6(BUB1B):c.2391T>C (p.Ser797=)
|
rs764329961
|
|
|
NM_001211.6(BUB1B):c.2391T>G (p.Ser797=)
|
rs764329961
|
|
|
NM_001211.6(BUB1B):c.23G>C (p.Gly8Ala)
|
rs554782320
|
|
|
NM_001211.6(BUB1B):c.240-13dup
|
|
|
|
NM_001211.6(BUB1B):c.240-18C>A
|
|
|
|
NM_001211.6(BUB1B):c.240-8C>T
|
rs2140881724
|
|
|
NM_001211.6(BUB1B):c.2402T>C (p.Val801Ala)
|
|
|
|
NM_001211.6(BUB1B):c.2405C>T (p.Pro802Leu)
|
rs878854277
|
|
|
NM_001211.6(BUB1B):c.240G>C (p.Arg80Ser)
|
|
|
|
NM_001211.6(BUB1B):c.2412C>T (p.Asp804=)
|
rs1555383645
|
|
|
NM_001211.6(BUB1B):c.2414T>C (p.Phe805Ser)
|
rs1060499948
|
|
|
NM_001211.6(BUB1B):c.2415T>G (p.Phe805Leu)
|
|
|
|
NM_001211.6(BUB1B):c.2419A>G (p.Ile807Val)
|
|
|
|
NM_001211.6(BUB1B):c.2425C>G (p.Leu809Val)
|
|
|
|
NM_001211.6(BUB1B):c.2430G>C (p.Lys810Asn)
|
|
|
|
NM_001211.6(BUB1B):c.2432T>C (p.Leu811Ser)
|
rs975163412
|
|
|
NM_001211.6(BUB1B):c.2437G>C (p.Glu813Gln)
|
|
|
|
NM_001211.6(BUB1B):c.2440C>G (p.Arg814Gly)
|
rs769288048
|
|
|
NM_001211.6(BUB1B):c.2447A>G (p.Asn816Ser)
|
|
|
|
NM_001211.6(BUB1B):c.2447A>T (p.Asn816Ile)
|
|
|
|
NM_001211.6(BUB1B):c.2448T>C (p.Asn816=)
|
rs1595534924
|
|
|
NM_001211.6(BUB1B):c.244A>G (p.Ile82Val)
|
rs2140881732
|
|
|
NM_001211.6(BUB1B):c.2450A>G (p.Glu817Gly)
|
rs772750245
|
|
|
NM_001211.6(BUB1B):c.2463T>A (p.His821Gln)
|
|
|
|
NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter)
|
rs2037728032
|
|
|
NM_001211.6(BUB1B):c.247A>C (p.Ser83Arg)
|
rs147832586
|
|
|
NM_001211.6(BUB1B):c.2496T>C (p.Cys832=)
|
|
|
|
NM_001211.6(BUB1B):c.2509C>A (p.Gln837Lys)
|
rs2140907776
|
|
|
NM_001211.6(BUB1B):c.2511A>G (p.Gln837=)
|
|
|
|
NM_001211.6(BUB1B):c.2511A>T (p.Gln837His)
|
|
|
|
NM_001211.6(BUB1B):c.2513A>G (p.Tyr838Cys)
|
rs753916523
|
|
|
NM_001211.6(BUB1B):c.2520C>T (p.Asn840=)
|
rs1385699061
|
|
|
NM_001211.6(BUB1B):c.2528C>T (p.Thr843Ile)
|
|
|
|
NM_001211.6(BUB1B):c.2534A>G (p.Gln845Arg)
|
rs758774329
|
|
|
NM_001211.6(BUB1B):c.2535+10A>C
|
rs1197837468
|
|
|
NM_001211.6(BUB1B):c.2535+8A>G
|
rs2140907808
|
|
|
NM_001211.6(BUB1B):c.2536-8A>G
|
rs750936919
|
|
|
NM_001211.6(BUB1B):c.2549A>G (p.His850Arg)
|
|
|
|
NM_001211.6(BUB1B):c.2563A>G (p.Thr855Ala)
|
|
|
|
NM_001211.6(BUB1B):c.2565C>T (p.Thr855=)
|
|
|
|
NM_001211.6(BUB1B):c.2566del (p.His856fs)
|
rs749762155
|
|
|
NM_001211.6(BUB1B):c.256G>A (p.Glu86Lys)
|
rs2037149727
|
|
|
NM_001211.6(BUB1B):c.2580G>A (p.Val860=)
|
|
|
|
NM_001211.6(BUB1B):c.2582T>G (p.Leu861Trp)
|
rs1566828619
|
|
|
NM_001211.6(BUB1B):c.2605A>G (p.Ile869Val)
|
rs1595535434
|
|
|
NM_001211.6(BUB1B):c.2612A>T (p.Glu871Val)
|
|
|
|
NM_001211.6(BUB1B):c.2617C>T (p.Leu873=)
|
|
|
|
NM_001211.6(BUB1B):c.2626G>A (p.Ala876Thr)
|
|
|
|
NM_001211.6(BUB1B):c.2648T>C (p.Leu883Ser)
|
rs2140908215
|
|
|
NM_001211.6(BUB1B):c.2652T>A (p.Ser884Arg)
|
|
|
|
NM_001211.6(BUB1B):c.2656A>G (p.Arg886Gly)
|
rs1342870693
|
|
|
NM_001211.6(BUB1B):c.2658G>T (p.Arg886Ser)
|
rs146821149
|
|
|
NM_001211.6(BUB1B):c.2669T>G (p.Leu890Arg)
|
|
|
|
NM_001211.6(BUB1B):c.2678+13C>G
|
|
|
|
NM_001211.6(BUB1B):c.2678+15T>G
|
rs1363805902
|
|
|
NM_001211.6(BUB1B):c.2679A>G (p.Arg893=)
|
rs2140911352
|
|
|
NM_001211.6(BUB1B):c.2681T>A (p.Ile894Asn)
|
|
|
|
NM_001211.6(BUB1B):c.26G>A (p.Gly9Asp)
|
|
|
|
NM_001211.6(BUB1B):c.26G>C (p.Gly9Ala)
|
rs768279736
|
|
|
NM_001211.6(BUB1B):c.26G>T (p.Gly9Val)
|
rs768279736
|
|
|
NM_001211.6(BUB1B):c.2703C>T (p.Asn901=)
|
|
|
|
NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn)
|
|
|
|
NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser)
|
|
|
|
NM_001211.6(BUB1B):c.270T>G (p.Pro90=)
|
|
|
|
NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu)
|
rs747000103
|
|
|
NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala)
|
|
|
|
NM_001211.6(BUB1B):c.273A>T (p.Gln91His)
|
rs751056896
|
|
|
NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg)
|
rs2037812878
|
|
|
NM_001211.6(BUB1B):c.2752C>T (p.Leu918Phe)
|
rs145639700
|
|
|
NM_001211.6(BUB1B):c.275G>C (p.Gly92Ala)
|
rs1595511034
|
|
|
NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp)
|
rs766052877
|
|
|
NM_001211.6(BUB1B):c.2792G>C (p.Arg931Pro)
|
rs751509832
|
|
|
NM_001211.6(BUB1B):c.2799A>G (p.Val933=)
|
rs755014372
|
|
|
NM_001211.6(BUB1B):c.2804T>C (p.Ile935Thr)
|
|
|
|
NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro)
|
rs964545269
|
|
|
NM_001211.6(BUB1B):c.2816A>C (p.Gln939Pro)
|
|
|
|
NM_001211.6(BUB1B):c.2820G>A (p.Lys940=)
|
|
|
|
NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn)
|
|
|
|
NM_001211.6(BUB1B):c.2820G>T (p.Lys940Asn)
|
|
|
|
NM_001211.6(BUB1B):c.2827G>A (p.Ala943Thr)
|
|
|
|
NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly)
|
|
|
|
NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val)
|
|
|
|
NM_001211.6(BUB1B):c.2829T>C (p.Ala943=)
|
|
|
|
NM_001211.6(BUB1B):c.2834G>A (p.Cys945Tyr)
|
rs974385539
|
|
|
NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter)
|
|
|
|
NM_001211.6(BUB1B):c.2850+18C>T
|
|
|
|
NM_001211.6(BUB1B):c.2850+9A>G
|
rs760887408
|
|
|
NM_001211.6(BUB1B):c.2851-14T>C
|
|
|
|
NM_001211.6(BUB1B):c.2851-16C>T
|
rs1173983809
|
|
|
NM_001211.6(BUB1B):c.2851-1G>C
|
rs1566830754
|
|
|
NM_001211.6(BUB1B):c.2851-5T>C
|
|
|
|
NM_001211.6(BUB1B):c.2854G>C (p.Asp952His)
|
rs2140912289
|
|
|
NM_001211.6(BUB1B):c.2862T>C (p.Phe954=)
|
rs2140912298
|
|
|
NM_001211.6(BUB1B):c.286A>G (p.Ser96Gly)
|
rs998599773
|
|
|
NM_001211.6(BUB1B):c.2870C>G (p.Ala957Gly)
|
|
|
|
NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter)
|
rs2140912326
|
|
|
NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser)
|
|
|
|
NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter)
|
|
|
|
NM_001211.6(BUB1B):c.2897A>G (p.Lys966Arg)
|
rs2037833828
|
|
|
NM_001211.6(BUB1B):c.289A>G (p.Asn97Asp)
|
|
|
|
NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp)
|
rs762290287
|
|
|
NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr)
|
|
|
|
NM_001211.6(BUB1B):c.2904C>A (p.His968Gln)
|
rs1284860869
|
|
|
NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala)
|
|
|
|
NM_001211.6(BUB1B):c.2931C>T (p.Phe977=)
|
|
|
|
NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter)
|
rs1191638586
|
|
|
NM_001211.6(BUB1B):c.293T>A (p.Met98Lys)
|
rs1446063325
|
|
|
NM_001211.6(BUB1B):c.2957+19C>T
|
|
|
|
NM_001211.6(BUB1B):c.2957+1G>A
|
rs1595540180
|
|
|
NM_001211.6(BUB1B):c.2957+5G>A
|
|
|
|
NM_001211.6(BUB1B):c.2957+8T>C
|
rs2037835582
|
|
|
NM_001211.6(BUB1B):c.2958-13T>A
|
|
|
|
NM_001211.6(BUB1B):c.2958-13dup
|
rs1170160550
|
|
|
NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu)
|
rs2140914660
|
|
|
NM_001211.6(BUB1B):c.2988C>T (p.Phe996=)
|
|
|
|
NM_001211.6(BUB1B):c.2997G>A (p.Arg999=)
|
rs2140914718
|
|
|
NM_001211.6(BUB1B):c.299C>T (p.Thr100Met)
|
|
|
|
NM_001211.6(BUB1B):c.29C>T (p.Ala10Val)
|
|
|
|
NM_001211.6(BUB1B):c.2dup (p.Met1fs)
|
rs2037039121
|
|
|
NM_001211.6(BUB1B):c.300G>A (p.Thr100=)
|
|
|
|
NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His)
|
|
|
|
NM_001211.6(BUB1B):c.3024A>G (p.Thr1008=)
|
rs2140914771
|
|
|
NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys)
|
|
|
|
NM_001211.6(BUB1B):c.303A>G (p.Leu101=)
|
rs2140881797
|
|
|
NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=)
|
|
|
|
NM_001211.6(BUB1B):c.3055A>G (p.Met1019Val)
|
rs1566831785
|
|
|
NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala)
|
|
|
|
NM_001211.6(BUB1B):c.3067T>G (p.Phe1023Val)
|
rs1566831798
|
|
|
NM_001211.6(BUB1B):c.3074C>A (p.Thr1025Asn)
|
rs770219125
|
|
|
NM_001211.6(BUB1B):c.3084A>G (p.Gln1028=)
|
rs1566831810
|
|
|
NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe)
|
rs576684184
|
|
|
NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu)
|
|
|
|
NM_001211.6(BUB1B):c.310A>G (p.Arg104Gly)
|
rs2037150605
|
|
|
NM_001211.6(BUB1B):c.310del (p.Arg104fs)
|
|
|
|
NM_001211.6(BUB1B):c.3124A>G (p.Thr1042Ala)
|
rs761776038
|
|
|
NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg)
|
rs2140914939
|
|
|
NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg)
|
|
|
|
NM_001211.6(BUB1B):c.318A>G (p.Val106=)
|
|
|
|
NM_001211.6(BUB1B):c.327A>G (p.Leu109=)
|
|
|
|
NM_001211.6(BUB1B):c.32T>G (p.Leu11Arg)
|
|
|
|
NM_001211.6(BUB1B):c.339A>C (p.Lys113Asn)
|
|
|
|
NM_001211.6(BUB1B):c.35+4G>A
|
rs769117219
|
|
|
NM_001211.6(BUB1B):c.35+4G>T
|
|
|
|
NM_001211.6(BUB1B):c.35+9G>A
|
rs762785947
|
|
|
NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter)
|
rs2037151440
|
|
|
NM_001211.6(BUB1B):c.36-13dup
|
rs150031754
|
|
|
NM_001211.6(BUB1B):c.36-1G>A
|
|
|
|
NM_001211.6(BUB1B):c.366C>T (p.Leu122=)
|
|
|
|
NM_001211.6(BUB1B):c.375G>C (p.Trp125Cys)
|
|
|
|
NM_001211.6(BUB1B):c.384+13C>T
|
|
|
|
NM_001211.6(BUB1B):c.384+6T>A
|
rs2140881867
|
|
|
NM_001211.6(BUB1B):c.384+6T>C
|
|
|
|
NM_001211.6(BUB1B):c.384+9_384+12del
|
rs777147964
|
|
|
NM_001211.6(BUB1B):c.385-10T>G
|
rs2037224613
|
|
|
NM_001211.6(BUB1B):c.385-19G>A
|
|
|
|
NM_001211.6(BUB1B):c.385-7G>C
|
rs2140885381
|
|
|
NM_001211.6(BUB1B):c.391T>G (p.Leu131Val)
|
rs946027171
|
|
|
NM_001211.6(BUB1B):c.408G>A (p.Leu136=)
|
|
|
|
NM_001211.6(BUB1B):c.414G>A (p.Met138Ile)
|
|
|
|
NM_001211.6(BUB1B):c.418A>C (p.Ser140Arg)
|
rs2037225300
|
|
|
NM_001211.6(BUB1B):c.422dup (p.Tyr141Ter)
|
rs1455613910
|
|
|
NM_001211.6(BUB1B):c.451C>G (p.Leu151Val)
|
rs2140885458
|
|
|
NM_001211.6(BUB1B):c.451C>T (p.Leu151Phe)
|
rs2140885458
|
|
|
NM_001211.6(BUB1B):c.458A>G (p.Gln153Arg)
|
rs776363221
|
|
|
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)
|
rs776363221
|
|
|
NM_001211.6(BUB1B):c.45G>C (p.Met15Ile)
|
|
|
|
NM_001211.6(BUB1B):c.466A>G (p.Ile156Val)
|
rs546538543
|
|
|
NM_001211.6(BUB1B):c.470C>T (p.Ser157Leu)
|
rs2140885475
|
|
|
NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe)
|
rs1364339094
|
|
|
NM_001211.6(BUB1B):c.480A>G (p.Glu160=)
|
|
|
|
NM_001211.6(BUB1B):c.483A>T (p.Glu161Asp)
|
rs758667204
|
|
|
NM_001211.6(BUB1B):c.485A>G (p.Tyr162Cys)
|
rs1555381180
|
|
|
NM_001211.6(BUB1B):c.495A>G (p.Arg165=)
|
rs1446251301
|
|
|
NM_001211.6(BUB1B):c.504T>C (p.Phe168=)
|
|
|
|
NM_001211.6(BUB1B):c.505A>G (p.Arg169Gly)
|
rs2037226561
|
|
|
NM_001211.6(BUB1B):c.508A>G (p.Lys170Glu)
|
rs532319590
|
|
|
NM_001211.6(BUB1B):c.511G>C (p.Ala171Pro)
|
rs2037226711
|
|
|
NM_001211.6(BUB1B):c.518C>T (p.Ala173Val)
|
rs552380700
|
|
|
NM_001211.6(BUB1B):c.519G>A (p.Ala173=)
|
rs1595514496
|
|
|
NM_001211.6(BUB1B):c.540A>G (p.Gln180=)
|
rs1595514520
|
|
|
NM_001211.6(BUB1B):c.545_546delinsCA (p.Lys182Thr)
|
|
|
|
NM_001211.6(BUB1B):c.547G>A (p.Ala183Thr)
|
rs1442788795
|
|
|
NM_001211.6(BUB1B):c.547G>C (p.Ala183Pro)
|
rs1442788795
|
|
|
NM_001211.6(BUB1B):c.54G>C (p.Glu18Asp)
|
rs777141944
|
|
|
NM_001211.6(BUB1B):c.550G>A (p.Glu184Lys)
|
rs145028054
|
|
|
NM_001211.6(BUB1B):c.578del (p.His193fs)
|
rs1179465577
|
|
|
NM_001211.6(BUB1B):c.581+10_581+13del
|
rs762654787
|
|
|
NM_001211.6(BUB1B):c.581+18C>T
|
|
|
|
NM_001211.6(BUB1B):c.581+7T>G
|
rs1595514579
|
|
|
NM_001211.6(BUB1B):c.582-3T>C
|
rs2037323557
|
|
|
NM_001211.6(BUB1B):c.583C>G (p.Gln195Glu)
|
|
|
|
NM_001211.6(BUB1B):c.591A>G (p.Gln197=)
|
rs2140889748
|
|
|
NM_001211.6(BUB1B):c.596G>C (p.Arg199Pro)
|
rs779260067
|
|
|
NM_001211.6(BUB1B):c.596G>T (p.Arg199Leu)
|
|
|
|
NM_001211.6(BUB1B):c.615G>T (p.Leu205=)
|
|
|
|
NM_001211.6(BUB1B):c.627G>A (p.Glu209=)
|
rs1354561256
|
|
|
NM_001211.6(BUB1B):c.630A>G (p.Lys210=)
|
|
|
|
NM_001211.6(BUB1B):c.630AGA[2] (p.Glu215del)
|
rs751339245
|
|
|
NM_001211.6(BUB1B):c.631G>C (p.Glu211Gln)
|
rs1566819827
|
|
|
NM_001211.6(BUB1B):c.636A>C (p.Glu212Asp)
|
rs769213287
|
|
|
NM_001211.6(BUB1B):c.639GGA[1] (p.Glu215del)
|
|
|
|
NM_001211.6(BUB1B):c.647T>G (p.Val216Gly)
|
rs1203645365
|
|
|
NM_001211.6(BUB1B):c.650T>A (p.Phe217Tyr)
|
rs2140889790
|
|
|
NM_001211.6(BUB1B):c.663A>G (p.Val221=)
|
rs774346563
|
|
|
NM_001211.6(BUB1B):c.665_667del (p.Pro222del)
|
rs767511302
|
|
|
NM_001211.6(BUB1B):c.679C>T (p.Leu227=)
|
rs1211327766
|
|
|
NM_001211.6(BUB1B):c.684T>C (p.Ala228=)
|
|
|
|
NM_001211.6(BUB1B):c.693_694insTT (p.Ser232fs)
|
rs2037326125
|
|
|
NM_001211.6(BUB1B):c.698A>G (p.Lys233Arg)
|
rs960109358
|
|
|
NM_001211.6(BUB1B):c.699A>C (p.Lys233Asn)
|
rs2140889861
|
|
|
NM_001211.6(BUB1B):c.6G>A (p.Ala2=)
|
|
|
|
NM_001211.6(BUB1B):c.709_712del (p.Thr237fs)
|
rs992789522
|
|
|
NM_001211.6(BUB1B):c.714A>C (p.Ala238=)
|
|
|
|
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)
|
rs1407334063
|
|
|
NM_001211.6(BUB1B):c.74G>A (p.Ser25Asn)
|
|
|
|
NM_001211.6(BUB1B):c.750G>A (p.Lys250=)
|
rs1440328650
|
|
|
NM_001211.6(BUB1B):c.750G>C (p.Lys250Asn)
|
rs1440328650
|
|
|
NM_001211.6(BUB1B):c.751+9G>C
|
rs372133651
|
|
|
NM_001211.6(BUB1B):c.752-5C>T
|
rs2140890656
|
|
|
NM_001211.6(BUB1B):c.752-6T>C
|
rs2140890655
|
|
|
NM_001211.6(BUB1B):c.774C>T (p.Leu258=)
|
|
|
|
NM_001211.6(BUB1B):c.783A>C (p.Pro261=)
|
|
|
|
NM_001211.6(BUB1B):c.795G>A (p.Gln265=)
|
|
|
|
NM_001211.6(BUB1B):c.797T>G (p.Met266Arg)
|
rs745796231
|
|
|
NM_001211.6(BUB1B):c.799C>T (p.Gln267Ter)
|
rs746135465
|
|
|
NM_001211.6(BUB1B):c.812G>A (p.Arg271Lys)
|
|
|
|
NM_001211.6(BUB1B):c.820G>A (p.Val274Ile)
|
rs2037344658
|
|
|
NM_001211.6(BUB1B):c.837T>C (p.Ala279=)
|
|
|
|
NM_001211.6(BUB1B):c.838G>C (p.Asp280His)
|
rs2037344931
|
|
|
NM_001211.6(BUB1B):c.839A>T (p.Asp280Val)
|
rs2037344963
|
|
|
NM_001211.6(BUB1B):c.850A>G (p.Thr284Ala)
|
rs1369362790
|
|
|
NM_001211.6(BUB1B):c.854C>A (p.Ala285Glu)
|
|
|
|
NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly)
|
rs2037345499
|
|
|
NM_001211.6(BUB1B):c.862T>C (p.Ser288Pro)
|
rs763386438
|
|
|
NM_001211.6(BUB1B):c.868C>A (p.Pro290Thr)
|
rs1411048840
|
|
|
NM_001211.6(BUB1B):c.871del (p.Thr291fs)
|
|
|
|
NM_001211.6(BUB1B):c.874G>A (p.Val292Ile)
|
rs760345452
|
|
|
NM_001211.6(BUB1B):c.877C>T (p.Gln293Ter)
|
rs2140890776
|
|
|
NM_001211.6(BUB1B):c.878A>G (p.Gln293Arg)
|
|
|
|
NM_001211.6(BUB1B):c.882A>C (p.Pro294=)
|
rs1595519781
|
|
|
NM_001211.6(BUB1B):c.882A>G (p.Pro294=)
|
|
|
|
NM_001211.6(BUB1B):c.889G>A (p.Ala297Thr)
|
rs2140890789
|
|
|
NM_001211.6(BUB1B):c.897C>A (p.Pro299=)
|
|
|
|
NM_001211.6(BUB1B):c.897C>G (p.Pro299=)
|
rs374307209
|
|
|
NM_001211.6(BUB1B):c.897del (p.Met300fs)
|
|
|
|
NM_001211.6(BUB1B):c.897dup (p.Met300fs)
|
|
|
|
NM_001211.6(BUB1B):c.903C>T (p.Pro301=)
|
rs2140890815
|
|
|
NM_001211.6(BUB1B):c.911A>G (p.Lys304Arg)
|
rs2140890830
|
|
|
NM_001211.6(BUB1B):c.917A>G (p.Asn306Ser)
|
rs2140890832
|
|
|
NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter)
|
rs2037346846
|
|
|
NM_001211.6(BUB1B):c.932G>T (p.Gly311Val)
|
|
|
|
NM_001211.6(BUB1B):c.94_95insGCTCTCCCTCTCCCTCTCCCGCTCCCGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAATGTACAACCTT (p.Leu32fs)
|
|
|
|
NM_001211.6(BUB1B):c.950G>A (p.Arg317Lys)
|
rs2140890864
|
|
|
NM_001211.6(BUB1B):c.966+20G>T
|
|
|
|
NM_001211.6(BUB1B):c.966+7A>C
|
rs1595519855
|
|
|
NM_001211.6(BUB1B):c.966G>A (p.Arg322=)
|
rs2037347512
|
|
|
NM_001211.6(BUB1B):c.967-17TTC[2]
|
rs748654731
|
|
|
NM_001211.6(BUB1B):c.967-2A>T
|
rs2037350060
|
|
|
NM_001211.6(BUB1B):c.967-3C>T
|
|
|
|
NM_001211.6(BUB1B):c.967-8A>C
|
rs2037349939
|
|
|
NM_001211.6(BUB1B):c.967-8A>G
|
|
|
|
NM_001211.6(BUB1B):c.970C>G (p.Arg324Gly)
|
|
|
|
NM_001211.6(BUB1B):c.970C>T (p.Arg324Cys)
|
|
|
|
NM_001211.6(BUB1B):c.980C>A (p.Thr327Lys)
|
|
|
|
NM_001211.6(BUB1B):c.982G>A (p.Ala328Thr)
|
rs2037350544
|
|
|
NM_001211.6(BUB1B):c.992T>C (p.Ile331Thr)
|
|
|
|
NM_001211.6(BUB1B):c.99G>A (p.Arg33=)
|
|
|
|
NM_001378120.1(MBD5):c.1000del (p.Gln334fs)
|
rs1574459612
|
|
|
NM_001378120.1(MBD5):c.1010C>A (p.Pro337His)
|
|
|
|
NM_001378120.1(MBD5):c.1016C>A (p.Pro339His)
|
|
|
|
NM_001378120.1(MBD5):c.1016C>T (p.Pro339Leu)
|
rs748307129
|
|
|
NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del)
|
rs1388983985
|
|
|
NM_001378120.1(MBD5):c.1023A>C (p.Pro341=)
|
|
|
|
NM_001378120.1(MBD5):c.1025C>A (p.Pro342His)
|
rs1406381561
|
|
|
NM_001378120.1(MBD5):c.1025dup (p.Ser343fs)
|
rs1553518511
|
|
|
NM_001378120.1(MBD5):c.1035T>C (p.Ala345=)
|
rs2105628565
|
|
|
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe)
|
rs1201462027
|
|
|
NM_001378120.1(MBD5):c.1041G>A (p.Gln347=)
|
|
|
|
NM_001378120.1(MBD5):c.1041G>T (p.Gln347His)
|
rs746751148
|
|
|
NM_001378120.1(MBD5):c.1042A>G (p.Lys348Glu)
|
|
|
|
NM_001378120.1(MBD5):c.1053A>G (p.Leu351=)
|
|
|
|
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys)
|
rs1448983984
|
|
|
NM_001378120.1(MBD5):c.1081C>T (p.Leu361Phe)
|
rs2105629006
|
|
|
NM_001378120.1(MBD5):c.1084G>A (p.Asp362Asn)
|
rs1335443686
|
|
|
NM_001378120.1(MBD5):c.1084G>C (p.Asp362His)
|
rs1335443686
|
|
|
NM_001378120.1(MBD5):c.1093C>G (p.Pro365Ala)
|
|
|
|
NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu)
|
rs794727974
|
|
|
NM_001378120.1(MBD5):c.1100A>G (p.Lys367Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1101A>C (p.Lys367Asn)
|
|
|
|
NM_001378120.1(MBD5):c.1109A>G (p.Asn370Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1115A>G (p.Asn372Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1116C>T (p.Asn372=)
|
|
|
|
NM_001378120.1(MBD5):c.1117C>G (p.Pro373Ala)
|
rs2105629390
|
|
|
NM_001378120.1(MBD5):c.1119T>C (p.Pro373=)
|
rs1574459848
|
|
|
NM_001378120.1(MBD5):c.113+5G>A
|
|
|
|
NM_001378120.1(MBD5):c.113+8C>A
|
rs886054908
|
|
|
NM_001378120.1(MBD5):c.113+8C>T
|
|
|
|
NM_001378120.1(MBD5):c.113+9T>C
|
|
|
|
NM_001378120.1(MBD5):c.113+9T>G
|
rs1313785203
|
|
|
NM_001378120.1(MBD5):c.113+9TTA[2]
|
|
|
|
NM_001378120.1(MBD5):c.1130A>G (p.Asn377Ser)
|
rs2105629613
|
|
|
NM_001378120.1(MBD5):c.1138A>G (p.Ser380Gly)
|
rs1680696075
|
|
|
NM_001378120.1(MBD5):c.114-20T>G
|
|
|
|
NM_001378120.1(MBD5):c.114-2A>T
|
rs1574451881
|
|
|
NM_001378120.1(MBD5):c.1149A>G (p.Ser383=)
|
|
|
|
NM_001378120.1(MBD5):c.1150A>G (p.Asn384Asp)
|
|
|
|
NM_001378120.1(MBD5):c.1151A>G (p.Asn384Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1163A>G (p.Gln388Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1168C>T (p.Pro390Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1170T>C (p.Pro390=)
|
|
|
|
NM_001378120.1(MBD5):c.1185C>T (p.Ser395=)
|
|
|
|
NM_001378120.1(MBD5):c.1188del (p.Met396fs)
|
rs2105630210
|
|
|
NM_001378120.1(MBD5):c.1205C>T (p.Pro402Leu)
|
|
|
|
NM_001378120.1(MBD5):c.1213A>G (p.Ser405Gly)
|
rs1311216238
|
|
|
NM_001378120.1(MBD5):c.1223C>T (p.Pro408Leu)
|
|
|
|
NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)
|
|
|
|
NM_001378120.1(MBD5):c.1240C>A (p.Pro414Thr)
|
|
|
|
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val)
|
rs1250224277
|
|
|
NM_001378120.1(MBD5):c.1250T>C (p.Met417Thr)
|
rs1574460069
|
|
|
NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1251G>A (p.Met417Ile)
|
|
|
|
NM_001378120.1(MBD5):c.1251G>C (p.Met417Ile)
|
rs1559086508
|
|
|
NM_001378120.1(MBD5):c.1255C>T (p.His419Tyr)
|
|
|
|
NM_001378120.1(MBD5):c.1258G>A (p.Gly420Arg)
|
rs1352167434
|
|
|
NM_001378120.1(MBD5):c.1260G>C (p.Gly420=)
|
rs2105631059
|
|
|
NM_001378120.1(MBD5):c.1262G>A (p.Ser421Asn)
|
rs2105631080
|
|
|
NM_001378120.1(MBD5):c.1271A>T (p.Gln424Leu)
|
rs2105631231
|
|
|
NM_001378120.1(MBD5):c.1278T>C (p.Val426=)
|
|
|
|
NM_001378120.1(MBD5):c.1288G>T (p.Ala430Ser)
|
rs2105631326
|
|
|
NM_001378120.1(MBD5):c.1294A>G (p.Thr432Ala)
|
|
|
|
NM_001378120.1(MBD5):c.1297T>A (p.Ser433Thr)
|
rs2105631414
|
|
|
NM_001378120.1(MBD5):c.1311T>A (p.Ser437=)
|
rs1574460166
|
|
|
NM_001378120.1(MBD5):c.1318A>G (p.Thr440Ala)
|
|
|
|
NM_001378120.1(MBD5):c.1319C>G (p.Thr440Arg)
|
rs1247282095
|
|
|
NM_001378120.1(MBD5):c.1321T>C (p.Ser441Pro)
|
|
|
|
NM_001378120.1(MBD5):c.1327G>T (p.Val443Leu)
|
rs137977565
|
|
|
NM_001378120.1(MBD5):c.1336A>G (p.Met446Val)
|
|
|
|
NM_001378120.1(MBD5):c.133T>A (p.Ser45Thr)
|
|
|
|
NM_001378120.1(MBD5):c.1344T>C (p.Thr448=)
|
|
|
|
NM_001378120.1(MBD5):c.1356G>A (p.Arg452=)
|
|
|
|
NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr)
|
rs2105632032
|
|
|
NM_001378120.1(MBD5):c.1365A>G (p.Ala455=)
|
|
|
|
NM_001378120.1(MBD5):c.1369C>T (p.Pro457Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1379C>A (p.Ser460Ter)
|
rs878910680
|
|
|
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu)
|
rs878910680
|
|
|
NM_001378120.1(MBD5):c.1381C>T (p.Arg461Cys)
|
rs796052709
|
|
|
NM_001378120.1(MBD5):c.1386A>G (p.Ser462=)
|
rs2105632499
|
|
|
NM_001378120.1(MBD5):c.1388C>A (p.Ser463Tyr)
|
rs2105632518
|
|
|
NM_001378120.1(MBD5):c.138C>T (p.Cys46=)
|
|
|
|
NM_001378120.1(MBD5):c.1398A>T (p.Ser466=)
|
|
|
|
NM_001378120.1(MBD5):c.1406A>C (p.His469Pro)
|
rs766571687
|
|
|
NM_001378120.1(MBD5):c.1407T>C (p.His469=)
|
rs1365232702
|
|
|
NM_001378120.1(MBD5):c.1408G>A (p.Gly470Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1413T>C (p.Asn471=)
|
|
|
|
NM_001378120.1(MBD5):c.1417A>G (p.Met473Val)
|
rs1064796951
|
|
|
NM_001378120.1(MBD5):c.1417ATG[1] (p.Met474del)
|
rs1680710056
|
|
|
NM_001378120.1(MBD5):c.1433G>A (p.Gly478Glu)
|
|
|
|
NM_001378120.1(MBD5):c.143del (p.Glu48fs)
|
rs2105571301
|
|
|
NM_001378120.1(MBD5):c.1441G>C (p.Ala481Pro)
|
|
|
|
NM_001378120.1(MBD5):c.1443C>T (p.Ala481=)
|
|
|
|
NM_001378120.1(MBD5):c.1449del (p.Ser484fs)
|
rs2105633124
|
|
|
NM_001378120.1(MBD5):c.1453G>A (p.Gly485Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1457T>A (p.Ile486Asn)
|
rs1680712001
|
|
|
NM_001378120.1(MBD5):c.1462G>A (p.Val488Ile)
|
rs778427674
|
|
|
NM_001378120.1(MBD5):c.1462G>C (p.Val488Leu)
|
rs778427674
|
|
|
NM_001378120.1(MBD5):c.1468C>T (p.Pro490Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)
|
rs1024254683
|
|
|
NM_001378120.1(MBD5):c.1475C>T (p.Ser492Leu)
|
|
|
|
NM_001378120.1(MBD5):c.1476_1496del (p.Ser495_Arg501del)
|
rs1680712835
|
|
|
NM_001378120.1(MBD5):c.1484CAA[1] (p.Thr496del)
|
rs1680713005
|
|
|
NM_001378120.1(MBD5):c.1499_1500dup (p.Arg501fs)
|
rs2105633619
|
|
|
NM_001378120.1(MBD5):c.1503G>A (p.Arg501=)
|
|
|
|
NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr)
|
|
|
|
NM_001378120.1(MBD5):c.1520G>A (p.Ser507Asn)
|
|
|
|
NM_001378120.1(MBD5):c.1528A>G (p.Thr510Ala)
|
rs762417251
|
|
|
NM_001378120.1(MBD5):c.1539T>C (p.Asp513=)
|
|
|
|
NM_001378120.1(MBD5):c.1544A>G (p.His515Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1551G>A (p.Gln517=)
|
rs751801483
|
|
|
NM_001378120.1(MBD5):c.1551G>C (p.Gln517His)
|
|
|
|
NM_001378120.1(MBD5):c.1560T>G (p.Asp520Glu)
|
rs113472052
|
|
|
NM_001378120.1(MBD5):c.1563C>T (p.Ile521=)
|
rs2105634281
|
|
|
NM_001378120.1(MBD5):c.156A>G (p.Thr52=)
|
rs796958008
|
|
|
NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser)
|
rs727503998
|
|
|
NM_001378120.1(MBD5):c.1578T>A (p.Ile526=)
|
rs2105634428
|
|
|
NM_001378120.1(MBD5):c.1583G>A (p.Gly528Glu)
|
rs1300246516
|
|
|
NM_001378120.1(MBD5):c.1588A>C (p.Ser530Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn)
|
rs558138423
|
|
|
NM_001378120.1(MBD5):c.1593T>C (p.Asn531=)
|
|
|
|
NM_001378120.1(MBD5):c.1603A>G (p.Thr535Ala)
|
|
|
|
NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)
|
|
|
|
NM_001378120.1(MBD5):c.1627A>C (p.Thr543Pro)
|
rs1414607857
|
|
|
NM_001378120.1(MBD5):c.162G>C (p.Leu54=)
|
|
|
|
NM_001378120.1(MBD5):c.1634C>G (p.Ser545Cys)
|
rs1553518618
|
|
|
NM_001378120.1(MBD5):c.1637C>A (p.Ala546Asp)
|
|
|
|
NM_001378120.1(MBD5):c.1646G>A (p.Ser549Asn)
|
rs2105635382
|
|
|
NM_001378120.1(MBD5):c.1648del (p.Ser550fs)
|
rs2105635449
|
|
|
NM_001378120.1(MBD5):c.1663C>G (p.Pro555Ala)
|
rs1422887607
|
|
|
NM_001378120.1(MBD5):c.1667G>A (p.Gly556Asp)
|
rs750365107
|
|
|
NM_001378120.1(MBD5):c.1669T>A (p.Leu557Met)
|
rs2105635656
|
|
|
NM_001378120.1(MBD5):c.1671G>C (p.Leu557Phe)
|
|
|
|
NM_001378120.1(MBD5):c.1676G>A (p.Gly559Glu)
|
|
|
|
NM_001378120.1(MBD5):c.1677A>G (p.Gly559=)
|
|
|
|
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile)
|
rs1574460777
|
|
|
NM_001378120.1(MBD5):c.1682C>T (p.Pro561Leu)
|
rs1680723459
|
|
|
NM_001378120.1(MBD5):c.1695C>G (p.Ile565Met)
|
|
|
|
NM_001378120.1(MBD5):c.1697T>G (p.Leu566Trp)
|
|
|
|
NM_001378120.1(MBD5):c.1698G>C (p.Leu566Phe)
|
|
|
|
NM_001378120.1(MBD5):c.16G>C (p.Glu6Gln)
|
|
|
|
NM_001378120.1(MBD5):c.1702C>G (p.Gln568Glu)
|
|
|
|
NM_001378120.1(MBD5):c.1706A>G (p.His569Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1710T>C (p.Asn570=)
|
|
|
|
NM_001378120.1(MBD5):c.1713T>G (p.Ala571=)
|
rs1436943242
|
|
|
NM_001378120.1(MBD5):c.1718C>T (p.Ser573Phe)
|
rs540723139
|
|
|
NM_001378120.1(MBD5):c.1729A>G (p.Ser577Gly)
|
|
|
|
NM_001378120.1(MBD5):c.1732A>G (p.Ser578Gly)
|
|
|
|
NM_001378120.1(MBD5):c.1735T>C (p.Leu579=)
|
rs1229800294
|
|
|
NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter)
|
rs1559087186
|
|
|
NM_001378120.1(MBD5):c.1772A>G (p.Gln591Arg)
|
|
|
|
NM_001378120.1(MBD5):c.1773A>G (p.Gln591=)
|
|
|
|
NM_001378120.1(MBD5):c.1783G>T (p.Ala595Ser)
|
rs1302791673
|
|
|
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter)
|
rs2105571544
|
|
|
NM_001378120.1(MBD5):c.1811A>G (p.Asn604Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1818A>G (p.Gly606=)
|
rs2105636898
|
|
|
NM_001378120.1(MBD5):c.1828G>T (p.Gly610Cys)
|
rs142495834
|
|
|
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp)
|
rs398124341
|
|
|
NM_001378120.1(MBD5):c.1842T>C (p.Thr614=)
|
rs1553518662
|
|
|
NM_001378120.1(MBD5):c.1842_1865del (p.Glu615_Thr622del)
|
rs780715275
|
|
|
NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1862A>T (p.Asn621Ile)
|
|
|
|
NM_001378120.1(MBD5):c.1865C>T (p.Thr622Ile)
|
rs2105637430
|
|
|
NM_001378120.1(MBD5):c.1867A>G (p.Met623Val)
|
|
|
|
NM_001378120.1(MBD5):c.1868T>C (p.Met623Thr)
|
rs1036713038
|
|
|
NM_001378120.1(MBD5):c.1869G>A (p.Met623Ile)
|
rs1680731400
|
|
|
NM_001378120.1(MBD5):c.1872C>T (p.Phe624=)
|
rs540529414
|
|
|
NM_001378120.1(MBD5):c.1877C>T (p.Pro626Leu)
|
|
|
|
NM_001378120.1(MBD5):c.1879A>G (p.Thr627Ala)
|
rs779256872
|
|
|
NM_001378120.1(MBD5):c.188dup (p.Glu65fs)
|
|
|
|
NM_001378120.1(MBD5):c.1890G>T (p.Met630Ile)
|
rs1475773218
|
|
|
NM_001378120.1(MBD5):c.1892T>C (p.Leu631Pro)
|
|
|
|
NM_001378120.1(MBD5):c.189C>T (p.Gly63=)
|
rs1707127066
|
|
|
NM_001378120.1(MBD5):c.18G>A (p.Glu6=)
|
|
|
|
NM_001378120.1(MBD5):c.1910G>A (p.Gly637Glu)
|
|
|
|
NM_001378120.1(MBD5):c.1911G>A (p.Gly637=)
|
rs772127604
|
|
|
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=)
|
rs772127604
|
|
|
NM_001378120.1(MBD5):c.1913A>G (p.Gln638Arg)
|
rs1680733017
|
|
|
NM_001378120.1(MBD5):c.1927G>T (p.Ala643Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1941G>A (p.Lys647=)
|
rs2105638169
|
|
|
NM_001378120.1(MBD5):c.1961A>G (p.Asp654Gly)
|
|
|
|
NM_001378120.1(MBD5):c.1962C>A (p.Asp654Glu)
|
rs139953766
|
|
|
NM_001378120.1(MBD5):c.1963G>T (p.Ala655Ser)
|
|
|
|
NM_001378120.1(MBD5):c.1966T>C (p.Leu656=)
|
|
|
|
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly)
|
rs112334672
|
|
|
NM_001378120.1(MBD5):c.196dup (p.Cys66fs)
|
|
|
|
NM_001378120.1(MBD5):c.1974A>G (p.Lys658=)
|
rs2105638538
|
|
|
NM_001378120.1(MBD5):c.1975A>G (p.Arg659Gly)
|
|
|
|
NM_001378120.1(MBD5):c.1985C>A (p.Pro662Gln)
|
rs1280684603
|
|
|
NM_001378120.1(MBD5):c.1987C>A (p.Pro663Thr)
|
|
|
|
NM_001378120.1(MBD5):c.1987C>T (p.Pro663Ser)
|
rs1057520996
|
|
|
NM_001378120.1(MBD5):c.1989T>C (p.Pro663=)
|
rs2105638695
|
|
|
NM_001378120.1(MBD5):c.198T>C (p.Cys66=)
|
rs2105571649
|
|
|
NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met)
|
rs755862882
|
|
|
NM_001378120.1(MBD5):c.1999T>A (p.Leu667Met)
|
rs529715710
|
|
|
NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg)
|
rs766104877
|
|
|
NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn)
|
|
|
|
NM_001378120.1(MBD5):c.2015A>G (p.Gln672Arg)
|
|
|
|
NM_001378120.1(MBD5):c.2025G>C (p.Met675Ile)
|
|
|
|
NM_001378120.1(MBD5):c.2038G>A (p.Val680Ile)
|
|
|
|
NM_001378120.1(MBD5):c.2038G>T (p.Val680Phe)
|
|
|
|
NM_001378120.1(MBD5):c.2045A>G (p.Lys682Arg)
|
|
|
|
NM_001378120.1(MBD5):c.2051G>A (p.Gly684Glu)
|
rs1680739908
|
|
|
NM_001378120.1(MBD5):c.2060T>G (p.Leu687Trp)
|
|
|
|
NM_001378120.1(MBD5):c.2081G>A (p.Gly694Asp)
|
|
|
|
NM_001378120.1(MBD5):c.2086T>C (p.Phe696Leu)
|
|
|
|
NM_001378120.1(MBD5):c.2087T>G (p.Phe696Cys)
|
|
|
|
NM_001378120.1(MBD5):c.2108A>G (p.Gln703Arg)
|
rs1553518707
|
|
|
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His)
|
rs767521281
|
|
|
NM_001378120.1(MBD5):c.2113del (p.Leu705fs)
|
rs2105639771
|
|
|
NM_001378120.1(MBD5):c.2115A>G (p.Leu705=)
|
rs1680742184
|
|
|
NM_001378120.1(MBD5):c.2119T>G (p.Ser707Ala)
|
rs1394309796
|
|
|
NM_001378120.1(MBD5):c.2120C>T (p.Ser707Phe)
|
rs2105639837
|
|
|
NM_001378120.1(MBD5):c.2121T>C (p.Ser707=)
|
rs377427161
|
|
|
NM_001378120.1(MBD5):c.2122A>T (p.Met708Leu)
|
rs796052721
|
|
|
NM_001378120.1(MBD5):c.2124_2125delinsTT (p.Met708_Ser709delinsIleCys)
|
|
|
|
NM_001378120.1(MBD5):c.2126G>A (p.Ser709Asn)
|
|
|
|
NM_001378120.1(MBD5):c.2127T>G (p.Ser709Arg)
|
rs763873615
|
|
|
NM_001378120.1(MBD5):c.2147G>A (p.Ser716Asn)
|
|
|
|
NM_001378120.1(MBD5):c.2160C>G (p.Thr720=)
|
rs1680743868
|
|
|
NM_001378120.1(MBD5):c.2163G>T (p.Pro721=)
|
rs1241365384
|
|
|
NM_001378120.1(MBD5):c.2164G>C (p.Gly722Arg)
|
|
|
|
NM_001378120.1(MBD5):c.2164G>T (p.Gly722Cys)
|
rs143584574
|
|
|
NM_001378120.1(MBD5):c.2168G>T (p.Cys723Phe)
|
|
|
|
NM_001378120.1(MBD5):c.2170G>A (p.Gly724Arg)
|
rs1553518717
|
|
|
NM_001378120.1(MBD5):c.2172G>A (p.Gly724=)
|
|
|
|
NM_001378120.1(MBD5):c.2177C>T (p.Ser726Leu)
|
rs781532539
|
|
|
NM_001378120.1(MBD5):c.2187T>G (p.Ala729=)
|
rs561323622
|
|
|
NM_001378120.1(MBD5):c.2200G>A (p.Ala734Thr)
|
|
|
|
NM_001378120.1(MBD5):c.2234A>G (p.Asn745Ser)
|
|
|
|
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys)
|
rs2105641052
|
|
|
NM_001378120.1(MBD5):c.224A>G (p.Asn75Ser)
|
rs2105581271
|
|
|
NM_001378120.1(MBD5):c.2252A>G (p.Asn751Ser)
|
|
|
|
NM_001378120.1(MBD5):c.2268G>A (p.Gly756=)
|
|
|
|
NM_001378120.1(MBD5):c.2271A>G (p.Glu757=)
|
rs2105641334
|
|
|
NM_001378120.1(MBD5):c.2278C>T (p.His760Tyr)
|
rs1060501150
|
|
|
NM_001378120.1(MBD5):c.2285A>G (p.His762Arg)
|
rs2105641515
|
|
|
NM_001378120.1(MBD5):c.2296A>G (p.Thr766Ala)
|
|
|
|
NM_001378120.1(MBD5):c.2297C>G (p.Thr766Ser)
|
|
|
|
NM_001378120.1(MBD5):c.2299_2302del (p.Asn767fs)
|
rs1060501153
|
|
|
NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)
|
|
|
|
NM_001378120.1(MBD5):c.2321del (p.Pro774fs)
|
rs1553518752
|
|
|
NM_001378120.1(MBD5):c.2322A>G (p.Pro774=)
|
|
|
|
NM_001378120.1(MBD5):c.2350A>G (p.Ile784Val)
|
|
|
|
NM_001378120.1(MBD5):c.2356C>T (p.Gln786Ter)
|
rs2105642195
|
|
|
NM_001378120.1(MBD5):c.2358G>T (p.Gln786His)
|
rs1574462092
|
|
|
NM_001378120.1(MBD5):c.2359A>T (p.Ile787Phe)
|
|
|
|
NM_001378120.1(MBD5):c.236G>T (p.Gly79Val)
|
|
|
|
NM_001378120.1(MBD5):c.2370C>A (p.Ser790Arg)
|
rs376037852
|
|
|
NM_001378120.1(MBD5):c.2373G>A (p.Gly791=)
|
rs772842301
|
|
|
NM_001378120.1(MBD5):c.2373G>C (p.Gly791=)
|
|
|
|
NM_001378120.1(MBD5):c.2376C>T (p.Asn792=)
|
|
|
|
NM_001378120.1(MBD5):c.2381G>T (p.Gly794Val)
|
|
|
|
NM_001378120.1(MBD5):c.2384T>C (p.Met795Thr)
|
rs1446479503
|
|
|
NM_001378120.1(MBD5):c.2388C>T (p.Leu796=)
|
|
|
|
NM_001378120.1(MBD5):c.2390G>T (p.Ser797Ile)
|
rs1187810931
|
|
|
NM_001378120.1(MBD5):c.2396C>G (p.Ser799Trp)
|
rs759990854
|
|
|
NM_001378120.1(MBD5):c.2397G>A (p.Ser799=)
|
rs2105642607
|
|
|
NM_001378120.1(MBD5):c.2415T>C (p.Asn805=)
|
|
|
|
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala)
|
rs894958571
|
|
|
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg)
|
rs1060501152
|
|
|
NM_001378120.1(MBD5):c.2429A>G (p.Asn810Ser)
|
rs754126406
|
|
|
NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter)
|
rs1057524832
|
|
|
NM_001378120.1(MBD5):c.2439G>A (p.Gln813=)
|
|
|
|
NM_001378120.1(MBD5):c.2442A>G (p.Ser814=)
|
rs2105643173
|
|
|
NM_001378120.1(MBD5):c.244G>T (p.Val82Leu)
|
|
|
|
NM_001378120.1(MBD5):c.2453C>G (p.Thr818Arg)
|
rs1413186409
|
|
|
NM_001378120.1(MBD5):c.2453C>T (p.Thr818Met)
|
|
|
|
NM_001378120.1(MBD5):c.2462C>T (p.Thr821Ile)
|
|
|
|
NM_001378120.1(MBD5):c.2465C>T (p.Pro822Leu)
|
rs2105643339
|
|
|
NM_001378120.1(MBD5):c.2472A>C (p.Ile824=)
|
rs1574462288
|
|
|
NM_001378120.1(MBD5):c.2472A>G (p.Ile824Met)
|
rs1574462288
|
|
|
NM_001378120.1(MBD5):c.247A>G (p.Lys83Glu)
|
rs1559083055
|
|
|
NM_001378120.1(MBD5):c.2482A>C (p.Ile828Leu)
|
rs2105643462
|
|
|
NM_001378120.1(MBD5):c.2495A>G (p.Tyr832Cys)
|
rs954814725
|
|
|
NM_001378120.1(MBD5):c.2508T>C (p.Ser836=)
|
|
|
|
NM_001378120.1(MBD5):c.2518+16A>G
|
|
|
|
NM_001378120.1(MBD5):c.2518+6G>A
|
|
|
|
NM_001378120.1(MBD5):c.2518+7T>A
|
|
|
|
NM_001378120.1(MBD5):c.2519-10T>C
|
|
|
|
NM_001378120.1(MBD5):c.2519-10_2519-9del
|
rs5835195
|
|
|
NM_001378120.1(MBD5):c.2519-16T>G
|
|
|
|
NM_001378120.1(MBD5):c.2519-8C>T
|
rs761957089
|
|
|
NM_001378120.1(MBD5):c.2519-8del
|
rs1467351680
|
|
|
NM_001378120.1(MBD5):c.2519-9del
|
rs5835195
|
|
|
NM_001378120.1(MBD5):c.2519G>C (p.Gly840Ala)
|
rs2105071209
|
|
|
NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del)
|
rs1681214533
|
|
|
NM_001378120.1(MBD5):c.2526A>G (p.Ser842=)
|
|
|
|
NM_001378120.1(MBD5):c.2527G>A (p.Gly843Arg)
|
|
|
|
NM_001378120.1(MBD5):c.2527_2529dup (p.Gly843dup)
|
rs2105071357
|
|
|
NM_001378120.1(MBD5):c.2528G>A (p.Gly843Glu)
|
rs2105071391
|
|
|
NM_001378120.1(MBD5):c.2530C>T (p.Pro844Ser)
|
rs1283171716
|
|
|
NM_001378120.1(MBD5):c.2539T>C (p.Ser847Pro)
|
rs2105071445
|
|
|
NM_001378120.1(MBD5):c.253A>C (p.Arg85=)
|
|
|
|
NM_001378120.1(MBD5):c.2541C>A (p.Ser847=)
|
rs1574476656
|
|
|
NM_001378120.1(MBD5):c.2546C>T (p.Ala849Val)
|
|
|
|
NM_001378120.1(MBD5):c.2552C>A (p.Ala851Glu)
|
rs144557654
|
|
|
NM_001378120.1(MBD5):c.2552C>T (p.Ala851Val)
|
rs144557654
|
|
|
NM_001378120.1(MBD5):c.2558C>A (p.Thr853Asn)
|
rs780490918
|
|
|
NM_001378120.1(MBD5):c.2559C>A (p.Thr853=)
|
rs1681216580
|
|
|
NM_001378120.1(MBD5):c.2565C>G (p.His855Gln)
|
rs2105071741
|
|
|
NM_001378120.1(MBD5):c.2565C>T (p.His855=)
|
rs2105071741
|
|
|
NM_001378120.1(MBD5):c.2577A>G (p.Thr859=)
|
rs2105071848
|
|
|
NM_001378120.1(MBD5):c.2581ACA[1] (p.Thr862del)
|
|
|
|
NM_001378120.1(MBD5):c.2585C>T (p.Thr862Ile)
|
rs1681217722
|
|
|
NM_001378120.1(MBD5):c.2586A>C (p.Thr862=)
|
rs1681217813
|
|
|
NM_001378120.1(MBD5):c.2586_2667del (p.Ser863fs)
|
rs1559094754
|
|
|
NM_001378120.1(MBD5):c.2595T>A (p.Leu865=)
|
rs2105072069
|
|
|
NM_001378120.1(MBD5):c.2596C>G (p.Gln866Glu)
|
|
|
|
NM_001378120.1(MBD5):c.2598A>G (p.Gln866=)
|
|
|
|
NM_001378120.1(MBD5):c.259G>A (p.Ala87Thr)
|
rs755990856
|
|
|
NM_001378120.1(MBD5):c.25G>A (p.Gly9Arg)
|
rs143952512
|
|
|
NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg)
|
rs143952512
|
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
|
NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe)
|
rs116207524
|
|
|
NM_001378120.1(MBD5):c.2617A>G (p.Thr873Ala)
|
|
|
|
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr)
|
rs752535474
|
|
|
NM_001378120.1(MBD5):c.2633del (p.Pro878fs)
|
rs1553519853
|
|
|
NM_001378120.1(MBD5):c.2636T>G (p.Leu879Arg)
|
|
|
|
NM_001378120.1(MBD5):c.2637G>C (p.Leu879=)
|
rs2105072411
|
|
|
NM_001378120.1(MBD5):c.2642G>A (p.Ser881Asn)
|
rs1559094826
|
|
|
NM_001378120.1(MBD5):c.2646G>A (p.Gln882=)
|
|
|
|
NM_001378120.1(MBD5):c.2648T>C (p.Leu883Pro)
|
rs1681220458
|
|
|
NM_001378120.1(MBD5):c.2649A>G (p.Leu883=)
|
rs1681220561
|
|
|
NM_001378120.1(MBD5):c.2653A>G (p.Ile885Val)
|
rs2105072567
|
|
|
NM_001378120.1(MBD5):c.2685G>A (p.Glu895=)
|
rs2105072801
|
|
|
NM_001378120.1(MBD5):c.2686C>A (p.His896Asn)
|
|
|
|
NM_001378120.1(MBD5):c.2689G>A (p.Ala897Thr)
|
rs778516851
|
|
|
NM_001378120.1(MBD5):c.268G>A (p.Val90Ile)
|
rs1329667912
|
|
|
NM_001378120.1(MBD5):c.2692C>T (p.Leu898Phe)
|
|
|
|
NM_001378120.1(MBD5):c.2720A>G (p.Asn907Ser)
|
rs2105073027
|
|
|
NM_001378120.1(MBD5):c.2721C>A (p.Asn907Lys)
|
|
|
|
NM_001378120.1(MBD5):c.2724C>G (p.Asn908Lys)
|
rs779824788
|
|
|
NM_001378120.1(MBD5):c.2725C>T (p.His909Tyr)
|
|
|
|
NM_001378120.1(MBD5):c.2727T>A (p.His909Gln)
|
rs1681223550
|
|
|
NM_001378120.1(MBD5):c.2728C>G (p.Leu910Val)
|
|
|
|
NM_001378120.1(MBD5):c.2734C>T (p.His912Tyr)
|
rs1681223936
|
|
|
NM_001378120.1(MBD5):c.2736C>A (p.His912Gln)
|
rs756653034
|
|
|
NM_001378120.1(MBD5):c.2738C>T (p.Pro913Leu)
|
|
|
|
NM_001378120.1(MBD5):c.2750G>C (p.Ser917Thr)
|
|
|
|
NM_001378120.1(MBD5):c.2752C>T (p.Leu918Phe)
|
|
|
|
NM_001378120.1(MBD5):c.2762C>G (p.Ser921Cys)
|
|
|
|
NM_001378120.1(MBD5):c.2772C>T (p.Ile924=)
|
|
|
|
NM_001378120.1(MBD5):c.2773T>A (p.Ser925Thr)
|
|
|
|
NM_001378120.1(MBD5):c.2778G>A (p.Leu926=)
|
rs760520878
|
|
|
NM_001378120.1(MBD5):c.27A>T (p.Gly9=)
|
|
|
|
NM_001378120.1(MBD5):c.2814A>G (p.Leu938=)
|
|
|
|
NM_001378120.1(MBD5):c.2824C>T (p.Leu942Phe)
|
|
|
|
NM_001378120.1(MBD5):c.2827C>G (p.Gln943Glu)
|
|
|
|
NM_001378120.1(MBD5):c.2829G>A (p.Gln943=)
|
|
|
|
NM_001378120.1(MBD5):c.2830C>G (p.Pro944Ala)
|
|
|
|
NM_001378120.1(MBD5):c.2839G>A (p.Gly947Arg)
|
|
|
|
NM_001378120.1(MBD5):c.2856G>A (p.Glu952=)
|
|
|
|
NM_001378120.1(MBD5):c.2859C>A (p.Ile953=)
|
|
|
|
NM_001378120.1(MBD5):c.2861A>G (p.Asn954Ser)
|
|
|
|
NM_001378120.1(MBD5):c.28G>A (p.Gly10Arg)
|
rs1706964102
|
|
|
NM_001378120.1(MBD5):c.290C>T (p.Thr97Ile)
|
rs1341554170
|
|
|
NM_001378120.1(MBD5):c.302T>C (p.Ile101Thr)
|
rs1559083106
|
|
|
NM_001378120.1(MBD5):c.308A>G (p.Lys103Arg)
|
|
|
|
NM_001378120.1(MBD5):c.30G>A (p.Gly10=)
|
|
|
|
NM_001378120.1(MBD5):c.321T>G (p.Ile107Met)
|
rs1553517962
|
|
|
NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly)
|
|
|
|
NM_001378120.1(MBD5):c.332C>T (p.Thr111Ile)
|
rs1707174997
|
|
|
NM_001378120.1(MBD5):c.337C>A (p.His113Asn)
|
|
|
|
NM_001378120.1(MBD5):c.337C>T (p.His113Tyr)
|
|
|
|
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp)
|
rs765892446
|
|
|
NM_001378120.1(MBD5):c.3545-3T>C
|
|
|
|
NM_001378120.1(MBD5):c.3547G>A (p.Asp1183Asn)
|
|
|
|
NM_001378120.1(MBD5):c.3551T>C (p.Met1184Thr)
|
rs1681317802
|
|
|
NM_001378120.1(MBD5):c.3555A>G (p.Ser1185=)
|
|
|
|
NM_001378120.1(MBD5):c.3558A>C (p.Ser1186=)
|
|
|
|
NM_001378120.1(MBD5):c.3564C>A (p.Asn1188Lys)
|
rs1559096615
|
|
|
NM_001378120.1(MBD5):c.3567T>C (p.Asn1189=)
|
|
|
|
NM_001378120.1(MBD5):c.3572del (p.Thr1190_Leu1191insTer)
|
rs2105093302
|
|
|
NM_001378120.1(MBD5):c.3579C>A (p.Asn1193Lys)
|
|
|
|
NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys)
|
rs1200329763
|
|
|
NM_001378120.1(MBD5):c.3590C>A (p.Thr1197Asn)
|
|
|
|
NM_001378120.1(MBD5):c.3590C>T (p.Thr1197Ile)
|
rs750939401
|
|
|
NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=)
|
rs2105093530
|
|
|
NM_001378120.1(MBD5):c.3598C>T (p.Gln1200Ter)
|
|
|
|
NM_001378120.1(MBD5):c.3598del (p.Gln1200fs)
|
|
|
|
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=)
|
rs138058889
|
|
|
NM_001378120.1(MBD5):c.3607T>C (p.Leu1203=)
|
rs1574480161
|
|
|
NM_001378120.1(MBD5):c.3617A>G (p.Asn1206Ser)
|
|
|
|
NM_001378120.1(MBD5):c.3624G>A (p.Met1208Ile)
|
|
|
|
NM_001378120.1(MBD5):c.3636T>C (p.Asn1212=)
|
|
|
|
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His)
|
rs1465735521
|
|
|
NM_001378120.1(MBD5):c.3650A>G (p.Gln1217Arg)
|
rs1681321643
|
|
|
NM_001378120.1(MBD5):c.3650_3652del (p.Gln1217del)
|
rs2105093794
|
|
|
NM_001378120.1(MBD5):c.3657C>T (p.Leu1219=)
|
|
|
|
NM_001378120.1(MBD5):c.365C>T (p.Ser122Phe)
|
|
|
|
NM_001378120.1(MBD5):c.3663G>A (p.Gly1221=)
|
rs774912000
|
|
|
NM_001378120.1(MBD5):c.3666C>T (p.Tyr1222=)
|
rs781114483
|
|
|
NM_001378120.1(MBD5):c.3675C>G (p.Leu1225=)
|
rs1681323012
|
|
|
NM_001378120.1(MBD5):c.3677A>G (p.Gln1226Arg)
|
|
|
|
NM_001378120.1(MBD5):c.3679G>A (p.Ala1227Thr)
|
|
|
|
NM_001378120.1(MBD5):c.3685C>A (p.Gln1229Lys)
|
rs2105094167
|
|
|
NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu)
|
rs1429887811
|
|
|
NM_001378120.1(MBD5):c.3692A>C (p.Gln1231Pro)
|
|
|
|
NM_001378120.1(MBD5):c.3699A>G (p.Thr1233=)
|
rs2105094289
|
|
|
NM_001378120.1(MBD5):c.3707G>T (p.Cys1236Phe)
|
rs2105094326
|
|
|
NM_001378120.1(MBD5):c.3714T>C (p.Ala1238=)
|
|
|
|
NM_001378120.1(MBD5):c.3719A>G (p.Asn1240Ser)
|
|
|
|
NM_001378120.1(MBD5):c.3726_3729dup (p.Ala1244fs)
|
|
|
|
NM_001378120.1(MBD5):c.3727A>G (p.Met1243Val)
|
rs1681325771
|
|
|
NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr)
|
rs1435405119
|
|
|
NM_001378120.1(MBD5):c.3730G>A (p.Ala1244Thr)
|
rs1386609853
|
|
|
NM_001378120.1(MBD5):c.3734G>A (p.Cys1245Tyr)
|
rs1559096858
|
|
|
NM_001378120.1(MBD5):c.3737T>C (p.Leu1246Pro)
|
|
|
|
NM_001378120.1(MBD5):c.3753+11C>A
|
|
|
|
NM_001378120.1(MBD5):c.3753+15T>A
|
rs1057524750
|
|
|
NM_001378120.1(MBD5):c.3754-15_3754-12del
|
|
|
|
NM_001378120.1(MBD5):c.3754-20T>C
|
|
|
|
NM_001378120.1(MBD5):c.3761T>G (p.Met1254Arg)
|
|
|
|
NM_001378120.1(MBD5):c.3764A>C (p.Gln1255Pro)
|
|
|
|
NM_001378120.1(MBD5):c.3766G>A (p.Glu1256Lys)
|
rs1064796473
|
|
|
NM_001378120.1(MBD5):c.3768A>G (p.Glu1256=)
|
rs1681443066
|
|
|
NM_001378120.1(MBD5):c.3769del (p.Asp1257fs)
|
rs2105123510
|
|
|
NM_001378120.1(MBD5):c.3770A>T (p.Asp1257Val)
|
rs1681443164
|
|
|
NM_001378120.1(MBD5):c.3772G>T (p.Ala1258Ser)
|
rs1553520432
|
|
|
NM_001378120.1(MBD5):c.3786C>G (p.Asn1262Lys)
|
rs771343592
|
|
|
NM_001378120.1(MBD5):c.3786C>T (p.Asn1262=)
|
rs771343592
|
|
|
NM_001378120.1(MBD5):c.3790A>T (p.Arg1264Ter)
|
rs1450731543
|
|
|
NM_001378120.1(MBD5):c.3791G>C (p.Arg1264Thr)
|
|
|
|
NM_001378120.1(MBD5):c.3793A>G (p.Ile1265Val)
|
rs774513612
|
|
|
NM_001378120.1(MBD5):c.379del (p.Ser127fs)
|
rs1553517984
|
|
|
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile)
|
rs1681444814
|
|
|
NM_001378120.1(MBD5):c.3803A>C (p.Gln1268Pro)
|
rs1559098476
|
|
|
NM_001378120.1(MBD5):c.3812T>C (p.Leu1271Pro)
|
rs963277503
|
|
|
NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=)
|
rs772658882
|
|
|
NM_001378120.1(MBD5):c.3840T>C (p.Thr1280=)
|
rs1681446139
|
|
|
NM_001378120.1(MBD5):c.3856C>G (p.Gln1286Glu)
|
|
|
|
NM_001378120.1(MBD5):c.3864A>C (p.Thr1288=)
|
|
|
|
NM_001378120.1(MBD5):c.3881C>A (p.Pro1294Gln)
|
|
|
|
NM_001378120.1(MBD5):c.3894A>C (p.Pro1298=)
|
|
|
|
NM_001378120.1(MBD5):c.3902G>A (p.Gly1301Asp)
|
|
|
|
NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys)
|
rs796052715
|
|
|
NM_001378120.1(MBD5):c.3907C>T (p.Gln1303Ter)
|
rs2105124818
|
|
|
NM_001378120.1(MBD5):c.3917A>T (p.Asp1306Val)
|
|
|
|
NM_001378120.1(MBD5):c.3920G>T (p.Gly1307Val)
|
rs2105124889
|
|
|
NM_001378120.1(MBD5):c.3925G>T (p.Val1309Phe)
|
|
|
|
NM_001378120.1(MBD5):c.3931G>T (p.Gly1311Cys)
|
|
|
|
NM_001378120.1(MBD5):c.3932G>A (p.Gly1311Asp)
|
rs1352862206
|
|
|
NM_001378120.1(MBD5):c.3934G>T (p.Gly1312Cys)
|
rs1172686822
|
|
|
NM_001378120.1(MBD5):c.3935_3936delinsTT (p.Gly1312Val)
|
|
|
|
NM_001378120.1(MBD5):c.3936C>T (p.Gly1312=)
|
|
|
|
NM_001378120.1(MBD5):c.3938C>G (p.Pro1313Arg)
|
|
|
|
NM_001378120.1(MBD5):c.3940G>C (p.Gly1314Arg)
|
|
|
|
NM_001378120.1(MBD5):c.394A>G (p.Thr132Ala)
|
rs1707177360
|
|
|
NM_001378120.1(MBD5):c.3959C>T (p.Ala1320Val)
|
rs1479424507
|
|
|
NM_001378120.1(MBD5):c.3963T>C (p.Ile1321=)
|
rs2105125356
|
|
|
NM_001378120.1(MBD5):c.397+10A>T
|
rs2105582849
|
|
|
NM_001378120.1(MBD5):c.397+1G>A
|
rs1553517991
|
|
|
NM_001378120.1(MBD5):c.397+2T>C
|
|
|
|
NM_001378120.1(MBD5):c.397+8A>G
|
|
|
|
NM_001378120.1(MBD5):c.3974T>A (p.Val1325Asp)
|
|
|
|
NM_001378120.1(MBD5):c.398-11T>C
|
|
|
|
NM_001378120.1(MBD5):c.398-18T>C
|
|
|
|
NM_001378120.1(MBD5):c.398-3C>T
|
|
|
|
NM_001378120.1(MBD5):c.398-5A>G
|
|
|
|
NM_001378120.1(MBD5):c.3985G>A (p.Ala1329Thr)
|
|
|
|
NM_001378120.1(MBD5):c.3988A>G (p.Ser1330Gly)
|
rs753239849
|
|
|
NM_001378120.1(MBD5):c.4002G>A (p.Gln1334=)
|
|
|
|
NM_001378120.1(MBD5):c.4002G>T (p.Gln1334His)
|
rs1681454577
|
|
|
NM_001378120.1(MBD5):c.4013C>T (p.Thr1338Ile)
|
|
|
|
NM_001378120.1(MBD5):c.4017T>C (p.Thr1339=)
|
rs2105125745
|
|
|
NM_001378120.1(MBD5):c.4020A>G (p.Ala1340=)
|
rs1273991401
|
|
|
NM_001378120.1(MBD5):c.4032A>C (p.Thr1344=)
|
|
|
|
NM_001378120.1(MBD5):c.4048A>G (p.Ile1350Val)
|
|
|
|
NM_001378120.1(MBD5):c.4051C>T (p.Pro1351Ser)
|
rs886054912
|
|
|
NM_001378120.1(MBD5):c.4071T>A (p.Ser1357Arg)
|
|
|
|
NM_001378120.1(MBD5):c.4083C>T (p.Ala1361=)
|
rs2105126139
|
|
|
NM_001378120.1(MBD5):c.4087A>G (p.Ile1363Val)
|
|
|
|
NM_001378120.1(MBD5):c.4091G>A (p.Gly1364Asp)
|
rs2105126261
|
|
|
NM_001378120.1(MBD5):c.4094A>G (p.Asp1365Gly)
|
|
|
|
NM_001378120.1(MBD5):c.4096C>T (p.Pro1366Ser)
|
|
|
|
NM_001378120.1(MBD5):c.4097C>G (p.Pro1366Arg)
|
rs2105126294
|
|
|
NM_001378120.1(MBD5):c.4098A>G (p.Pro1366=)
|
rs2105126312
|
|
|
NM_001378120.1(MBD5):c.4115C>T (p.Ala1372Val)
|
rs1363547537
|
|
|
NM_001378120.1(MBD5):c.4116T>C (p.Ala1372=)
|
|
|
|
NM_001378120.1(MBD5):c.4122T>A (p.Ser1374Arg)
|
|
|
|
NM_001378120.1(MBD5):c.4122T>C (p.Ser1374=)
|
rs2105126495
|
|
|
NM_001378120.1(MBD5):c.4126G>A (p.Val1376Ile)
|
|
|
|
NM_001378120.1(MBD5):c.4127T>A (p.Val1376Asp)
|
rs1227323118
|
|
|
NM_001378120.1(MBD5):c.4134T>G (p.His1378Gln)
|
rs1051689897
|
|
|
NM_001378120.1(MBD5):c.4135G>C (p.Gly1379Arg)
|
rs1559098890
|
|
|
NM_001378120.1(MBD5):c.413T>C (p.Val138Ala)
|
rs2105622190
|
|
|
NM_001378120.1(MBD5):c.4141A>G (p.Asn1381Asp)
|
|
|
|
NM_001378120.1(MBD5):c.4142A>G (p.Asn1381Ser)
|
|
|
|
NM_001378120.1(MBD5):c.4143C>G (p.Asn1381Lys)
|
rs758083193
|
|
|
NM_001378120.1(MBD5):c.4151G>A (p.Gly1384Asp)
|
|
|
|
NM_001378120.1(MBD5):c.4159C>A (p.His1387Asn)
|
rs2105127038
|
|
|
NM_001378120.1(MBD5):c.416C>G (p.Pro139Arg)
|
|
|
|
NM_001378120.1(MBD5):c.4170G>A (p.Arg1390=)
|
rs1312513915
|
|
|
NM_001378120.1(MBD5):c.417T>C (p.Pro139=)
|
|
|
|
NM_001378120.1(MBD5):c.4183A>C (p.Arg1395=)
|
|
|
|
NM_001378120.1(MBD5):c.4185A>C (p.Arg1395Ser)
|
|
|
|
NM_001378120.1(MBD5):c.4187G>A (p.Gly1396Glu)
|
|
|
|
NM_001378120.1(MBD5):c.4188G>A (p.Gly1396=)
|
rs1443120715
|
|
|
NM_001378120.1(MBD5):c.4194G>A (p.Arg1398=)
|
rs2105127403
|
|
|
NM_001378120.1(MBD5):c.4204A>C (p.Asn1402His)
|
|
|
|
NM_001378120.1(MBD5):c.4209A>G (p.Leu1403=)
|
|
|
|
NM_001378120.1(MBD5):c.4219A>G (p.Lys1407Glu)
|
|
|
|
NM_001378120.1(MBD5):c.4230C>T (p.Asn1410=)
|
|
|
|
NM_001378120.1(MBD5):c.4237G>A (p.Asp1413Asn)
|
rs2105127714
|
|
|
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val)
|
rs752035001
|
|
|
NM_001378120.1(MBD5):c.4247A>C (p.Glu1416Ala)
|
|
|
|
NM_001378120.1(MBD5):c.4248A>C (p.Glu1416Asp)
|
rs201465308
|
|
|
NM_001378120.1(MBD5):c.424G>A (p.Ala142Thr)
|
|
|
|
NM_001378120.1(MBD5):c.4265G>A (p.Ser1422Asn)
|
|
|
|
NM_001378120.1(MBD5):c.4268G>T (p.Cys1423Phe)
|
rs1486727511
|
|
|
NM_001378120.1(MBD5):c.4275A>C (p.Thr1425=)
|
|
|
|
NM_001378120.1(MBD5):c.4276T>G (p.Ser1426Ala)
|
rs1681466995
|
|
|
NM_001378120.1(MBD5):c.4277C>A (p.Ser1426Tyr)
|
|
|
|
NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu)
|
rs1681467295
|
|
|
NM_001378120.1(MBD5):c.4288T>C (p.Trp1430Arg)
|
|
|
|
NM_001378120.1(MBD5):c.4292A>G (p.Asp1431Gly)
|
rs1681467352
|
|
|
NM_001378120.1(MBD5):c.4293C>G (p.Asp1431Glu)
|
|
|
|
NM_001378120.1(MBD5):c.4293C>T (p.Asp1431=)
|
|
|
|
NM_001378120.1(MBD5):c.4294G>C (p.Gly1432Arg)
|
rs201334086
|
|
|
NM_001378120.1(MBD5):c.4296G>A (p.Gly1432=)
|
|
|
|
NM_001378120.1(MBD5):c.4296G>C (p.Gly1432=)
|
rs746043647
|
|
|
NM_001378120.1(MBD5):c.4313G>A (p.Gly1438Glu)
|
rs1559099144
|
|
|
NM_001378120.1(MBD5):c.4313G>T (p.Gly1438Val)
|
rs1559099144
|
|
|
NM_001378120.1(MBD5):c.4317G>T (p.Glu1439Asp)
|
|
|
|
NM_001378120.1(MBD5):c.4322A>G (p.Asn1441Ser)
|
rs1574485128
|
|
|
NM_001378120.1(MBD5):c.4326G>A (p.Arg1442=)
|
rs766189023
|
|
|
NM_001378120.1(MBD5):c.4336G>A (p.Glu1446Lys)
|
|
|
|
NM_001378120.1(MBD5):c.4347A>G (p.Leu1449=)
|
rs2105128674
|
|
|
NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp)
|
rs1197271060
|
|
|
NM_001378120.1(MBD5):c.4372A>G (p.Ser1458Gly)
|
|
|
|
NM_001378120.1(MBD5):c.4387A>G (p.Arg1463Gly)
|
|
|
|
NM_001378120.1(MBD5):c.4389G>T (p.Arg1463Ser)
|
rs1371018820
|
|
|
NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser)
|
|
|
|
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser)
|
rs1681472341
|
|
|
NM_001378120.1(MBD5):c.440C>T (p.Ser147Leu)
|
|
|
|
NM_001378120.1(MBD5):c.4410G>A (p.Leu1470=)
|
|
|
|
NM_001378120.1(MBD5):c.4414T>C (p.Phe1472Leu)
|
|
|
|
NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=)
|
rs748173028
|
|
|
NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter)
|
rs1681473896
|
|
|
NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn)
|
rs2105129435
|
|
|
NM_001378120.1(MBD5):c.443T>C (p.Val148Ala)
|
|
|
|
NM_001378120.1(MBD5):c.4441C>T (p.Leu1481=)
|
|
|
|
NM_001378120.1(MBD5):c.4446A>G (p.Leu1482=)
|
|
|
|
NM_001378120.1(MBD5):c.4455A>C (p.Arg1485Ser)
|
rs747940875
|
|
|
NM_001378120.1(MBD5):c.4457A>C (p.Asn1486Thr)
|
rs1681475025
|
|
|
NM_001378120.1(MBD5):c.4464A>G (p.Pro1488=)
|
rs2105129699
|
|
|
NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu)
|
|
|
|
NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu)
|
rs370231736
|
|
|
NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser)
|
rs762922278
|
|
|
NM_001378120.1(MBD5):c.4483G>A (p.Glu1495Lys)
|
|
|
|
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly)
|
rs1165120864
|
|
|
NM_001378120.1(MBD5):c.4498A>G (p.Asn1500Asp)
|
|
|
|
NM_001378120.1(MBD5):c.4499A>T (p.Asn1500Ile)
|
|
|
|
NM_001378120.1(MBD5):c.4507A>G (p.Lys1503Glu)
|
rs1574485440
|
|
|
NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val)
|
rs898923113
|
|
|
NM_001378120.1(MBD5):c.4520T>C (p.Met1507Thr)
|
|
|
|
NM_001378120.1(MBD5):c.4521G>T (p.Met1507Ile)
|
|
|
|
NM_001378120.1(MBD5):c.4523G>A (p.Ser1508Asn)
|
|
|
|
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=)
|
rs1681478115
|
|
|
NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=)
|
rs1681478303
|
|
|
NM_001378120.1(MBD5):c.457C>T (p.His153Tyr)
|
rs2105622546
|
|
|
NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=)
|
rs1055672536
|
|
|
NM_001378120.1(MBD5):c.4585C>T (p.Arg1529Ter)
|
rs2105130509
|
|
|
NM_001378120.1(MBD5):c.4589A>G (p.Gln1530Arg)
|
rs1681479202
|
|
|
NM_001378120.1(MBD5):c.4590G>A (p.Gln1530=)
|
rs1057521419
|
|
|
NM_001378120.1(MBD5):c.4591A>G (p.Ser1531Gly)
|
rs781154198
|
|
|
NM_001378120.1(MBD5):c.4596G>A (p.Arg1532=)
|
rs2105130693
|
|
|
NM_001378120.1(MBD5):c.4618A>T (p.Thr1540Ser)
|
|
|
|
NM_001378120.1(MBD5):c.4623A>G (p.Ala1541=)
|
rs1574485595
|
|
|
NM_001378120.1(MBD5):c.4634T>C (p.Leu1545Pro)
|
rs1474107442
|
|
|
NM_001378120.1(MBD5):c.4637T>C (p.Val1546Ala)
|
|
|
|
NM_001378120.1(MBD5):c.4642G>A (p.Glu1548Lys)
|
|
|
|
NM_001378120.1(MBD5):c.4644G>A (p.Glu1548=)
|
|
|
|
NM_001378120.1(MBD5):c.4645G>A (p.Glu1549Lys)
|
|
|
|
NM_001378120.1(MBD5):c.4647G>A (p.Glu1549=)
|
|
|
|
NM_001378120.1(MBD5):c.4651T>C (p.Ser1551Pro)
|
|
|
|
NM_001378120.1(MBD5):c.4654C>T (p.Pro1552Ser)
|
|
|
|
NM_001378120.1(MBD5):c.4669A>G (p.Ser1557Gly)
|
|
|
|
NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn)
|
rs1278585545
|
|
|
NM_001378120.1(MBD5):c.4679A>T (p.Asn1560Ile)
|
rs1559099606
|
|
|
NM_001378120.1(MBD5):c.467T>C (p.Ile156Thr)
|
rs1465957655
|
|
|
NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr)
|
|
|
|
NM_001378120.1(MBD5):c.4691A>G (p.Lys1564Arg)
|
|
|
|
NM_001378120.1(MBD5):c.4692A>C (p.Lys1564Asn)
|
rs1553520621
|
|
|
NM_001378120.1(MBD5):c.469_476del (p.Thr157fs)
|
rs2105622677
|
|
|
NM_001378120.1(MBD5):c.4703A>G (p.His1568Arg)
|
rs999944646
|
|
|
NM_001378120.1(MBD5):c.4704T>A (p.His1568Gln)
|
|
|
|
NM_001378120.1(MBD5):c.4704_4728dup (p.Ser1577delinsLeuGlnTrpArgLeuTer)
|
|
|
|
NM_001378120.1(MBD5):c.4709A>G (p.Asn1570Ser)
|
|
|
|
NM_001378120.1(MBD5):c.4718T>G (p.Phe1573Cys)
|
rs1406467148
|
|
|
NM_001378120.1(MBD5):c.4722T>C (p.Asn1574=)
|
|
|
|
NM_001378120.1(MBD5):c.4729del (p.Ser1577fs)
|
rs2105131625
|
|
|
NM_001378120.1(MBD5):c.4733T>G (p.Val1578Gly)
|
rs1681484970
|
|
|
NM_001378120.1(MBD5):c.4741T>C (p.Cys1581Arg)
|
rs1396512077
|
|
|
NM_001378120.1(MBD5):c.4749T>C (p.Pro1583=)
|
rs1057523104
|
|
|
NM_001378120.1(MBD5):c.4765_4766insGGCACACACA (p.Lys1589fs)
|
|
|
|
NM_001378120.1(MBD5):c.4769G>A (p.Ser1590Asn)
|
rs2105131988
|
|
|
NM_001378120.1(MBD5):c.477T>C (p.Ser159=)
|
rs2105622763
|
|
|
NM_001378120.1(MBD5):c.4800A>G (p.Pro1600=)
|
rs1553520655
|
|
|
NM_001378120.1(MBD5):c.4833T>C (p.Tyr1611=)
|
rs1681489070
|
|
|
NM_001378120.1(MBD5):c.4837C>G (p.Pro1613Ala)
|
rs773779478
|
|
|
NM_001378120.1(MBD5):c.4845G>A (p.Thr1615=)
|
rs759890387
|
|
|
NM_001378120.1(MBD5):c.4848C>G (p.Phe1616Leu)
|
|
|
|
NM_001378120.1(MBD5):c.4849A>G (p.Asn1617Asp)
|
rs1681490063
|
|
|
NM_001378120.1(MBD5):c.4850A>C (p.Asn1617Thr)
|
rs753754490
|
|
|
NM_001378120.1(MBD5):c.4868G>A (p.Trp1623Ter)
|
|
|
|
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
|
|
|
|
NM_001378120.1(MBD5):c.4878C>T (p.Ile1626=)
|
|
|
|
NM_001378120.1(MBD5):c.4880A>G (p.Lys1627Arg)
|
|
|
|
NM_001378120.1(MBD5):c.4889C>A (p.Thr1630Asn)
|
rs2105133001
|
|
|
NM_001378120.1(MBD5):c.4890T>C (p.Thr1630=)
|
|
|
|
NM_001378120.1(MBD5):c.4904A>T (p.Lys1635Ile)
|
rs1681492416
|
|
|
NM_001378120.1(MBD5):c.490T>C (p.Cys164Arg)
|
|
|
|
NM_001378120.1(MBD5):c.4920C>A (p.Asp1640Glu)
|
rs768363712
|
|
|
NM_001378120.1(MBD5):c.4924G>T (p.Val1642Phe)
|
rs770196931
|
|
|
NM_001378120.1(MBD5):c.4931A>T (p.Asn1644Ile)
|
|
|
|
NM_001378120.1(MBD5):c.4935A>C (p.Ser1645=)
|
rs149419174
|
|
|
NM_001378120.1(MBD5):c.4935A>G (p.Ser1645=)
|
rs149419174
|
|
|
NM_001378120.1(MBD5):c.4950C>G (p.Pro1650=)
|
rs148394839
|
|
|
NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=)
|
rs148394839
|
|
|
NM_001378120.1(MBD5):c.4962+6C>A
|
rs2105133581
|
|
|
NM_001378120.1(MBD5):c.4962+7C>T
|
|
|
|
NM_001378120.1(MBD5):c.4966G>C (p.Glu1656Gln)
|
|
|
|
NM_001378120.1(MBD5):c.4991C>G (p.Thr1664Arg)
|
|
|
|
NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=)
|
rs1057521520
|
|
|
NM_001378120.1(MBD5):c.4996G>A (p.Gly1666Ser)
|
|
|
|
NM_001378120.1(MBD5):c.5007C>T (p.Ala1669=)
|
rs2105226035
|
|
|
NM_001378120.1(MBD5):c.5010C>T (p.Tyr1670=)
|
rs1057523158
|
|
|
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp)
|
rs1393532031
|
|
|
NM_001378120.1(MBD5):c.5021G>C (p.Arg1674Pro)
|
|
|
|
NM_001378120.1(MBD5):c.5025A>G (p.Lys1675=)
|
rs1574497842
|
|
|
NM_001378120.1(MBD5):c.5033G>T (p.Arg1678Ile)
|
rs749723920
|
|
|
NM_001378120.1(MBD5):c.5036+8del
|
|
|
|
NM_001378120.1(MBD5):c.5037-12C>T
|
|
|
|
NM_001378120.1(MBD5):c.5037-19T>G
|
|
|
|
NM_001378120.1(MBD5):c.5037-2A>G
|
|
|
|
NM_001378120.1(MBD5):c.503T>C (p.Phe168Ser)
|
|
|
|
NM_001378120.1(MBD5):c.5049A>C (p.Leu1683=)
|
|
|
|
NM_001378120.1(MBD5):c.504C>A (p.Phe168Leu)
|
rs2105622881
|
|
|
NM_001378120.1(MBD5):c.5050A>T (p.Asn1684Tyr)
|
|
|
|
NM_001378120.1(MBD5):c.5071_5073dup (p.Ile1691_His1692insIle)
|
|
|
|
NM_001378120.1(MBD5):c.5073T>A (p.Ile1691=)
|
|
|
|
NM_001378120.1(MBD5):c.5086A>G (p.Ser1696Gly)
|
|
|
|
NM_001378120.1(MBD5):c.50C>A (p.Pro17Gln)
|
|
|
|
NM_001378120.1(MBD5):c.50C>T (p.Pro17Leu)
|
rs1706964965
|
|
|
NM_001378120.1(MBD5):c.5103_5104del (p.Met1701fs)
|
|
|
|
NM_001378120.1(MBD5):c.5104T>C (p.Ser1702Pro)
|
rs1131691294
|
|
|
NM_001378120.1(MBD5):c.5104_5107del (p.Ser1702fs)
|
|
|
|
NM_001378120.1(MBD5):c.5109G>A (p.Gly1703=)
|
|
|
|
NM_001378120.1(MBD5):c.5112+11T>G
|
rs2105278869
|
|
|
NM_001378120.1(MBD5):c.5113-16A>G
|
|
|
|
NM_001378120.1(MBD5):c.5113-18C>T
|
|
|
|
NM_001378120.1(MBD5):c.5113-6T>G
|
rs2105294854
|
|
|
NM_001378120.1(MBD5):c.5130G>C (p.Gln1710His)
|
rs2105294933
|
|
|
NM_001378120.1(MBD5):c.5138G>A (p.Arg1713Lys)
|
rs913152551
|
|
|
NM_001378120.1(MBD5):c.513G>A (p.Met171Ile)
|
rs1301707163
|
|
|
NM_001378120.1(MBD5):c.5140C>A (p.Gln1714Lys)
|
|
|
|
NM_001378120.1(MBD5):c.5140C>T (p.Gln1714Ter)
|
|
|
|
NM_001378120.1(MBD5):c.5149C>T (p.Pro1717Ser)
|
|
|
|
NM_001378120.1(MBD5):c.5151C>T (p.Pro1717=)
|
|
|
|
NM_001378120.1(MBD5):c.5154del (p.Lys1719fs)
|
rs1060501151
|
|
|
NM_001378120.1(MBD5):c.5154dup (p.Lys1719fs)
|
|
|
|
NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn)
|
rs1553523408
|
|
|
NM_001378120.1(MBD5):c.5159C>T (p.Pro1720Leu)
|
rs2105295194
|
|
|
NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr)
|
rs1481914876
|
|
|
NM_001378120.1(MBD5):c.516T>C (p.Ile172=)
|
|
|
|
NM_001378120.1(MBD5):c.5175C>G (p.Ile1725Met)
|
|
|
|
NM_001378120.1(MBD5):c.5181A>G (p.Arg1727=)
|
|
|
|
NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)
|
|
|
|
NM_001378120.1(MBD5):c.521C>T (p.Ser174Leu)
|
|
|
|
NM_001378120.1(MBD5):c.524C>T (p.Ser175Leu)
|
|
|
|
NM_001378120.1(MBD5):c.528T>C (p.Asn176=)
|
rs1574458750
|
|
|
NM_001378120.1(MBD5):c.531C>T (p.Ala177=)
|
rs2105623085
|
|
|
NM_001378120.1(MBD5):c.535_547del (p.Gly179fs)
|
rs1680665652
|
|
|
NM_001378120.1(MBD5):c.537A>G (p.Gly179=)
|
rs1204024575
|
|
|
NM_001378120.1(MBD5):c.539G>A (p.Arg180Lys)
|
rs1680666184
|
|
|
NM_001378120.1(MBD5):c.540G>C (p.Arg180Ser)
|
|
|
|
NM_001378120.1(MBD5):c.540_541delinsTA (p.Arg180_Leu181delinsSerIle)
|
rs1680666363
|
|
|
NM_001378120.1(MBD5):c.543A>G (p.Leu181=)
|
|
|
|
NM_001378120.1(MBD5):c.55A>G (p.Ile19Val)
|
rs1559080667
|
|
|
NM_001378120.1(MBD5):c.560C>A (p.Pro187His)
|
rs2105623463
|
|
|
NM_001378120.1(MBD5):c.568CAA[2] (p.Gln192del)
|
|
|
|
NM_001378120.1(MBD5):c.577G>C (p.Glu193Gln)
|
|
|
|
NM_001378120.1(MBD5):c.589G>T (p.Val197Phe)
|
rs760892595
|
|
|
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter)
|
rs1293936199
|
|
|
NM_001378120.1(MBD5):c.598dup (p.Arg200fs)
|
|
|
|
NM_001378120.1(MBD5):c.599G>T (p.Arg200Leu)
|
rs149278000
|
|
|
NM_001378120.1(MBD5):c.601C>A (p.Gln201Lys)
|
|
|
|
NM_001378120.1(MBD5):c.603G>A (p.Gln201=)
|
|
|
|
NM_001378120.1(MBD5):c.606A>T (p.Arg202Ser)
|
rs1553518446
|
|
|
NM_001378120.1(MBD5):c.611G>A (p.Gly204Asp)
|
rs2105624053
|
|
|
NM_001378120.1(MBD5):c.622C>T (p.His208Tyr)
|
rs1574458957
|
|
|
NM_001378120.1(MBD5):c.623A>G (p.His208Arg)
|
|
|
|
NM_001378120.1(MBD5):c.629A>G (p.Gln210Arg)
|
|
|
|
NM_001378120.1(MBD5):c.638C>T (p.Pro213Leu)
|
rs755861220
|
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
|
NM_001378120.1(MBD5):c.648C>A (p.Gly216=)
|
rs1188063685
|
|
|
NM_001378120.1(MBD5):c.64C>T (p.Pro22Ser)
|
|
|
|
NM_001378120.1(MBD5):c.651C>G (p.Ser217Arg)
|
|
|
|
NM_001378120.1(MBD5):c.654T>C (p.His218=)
|
rs1353208243
|
|
|
NM_001378120.1(MBD5):c.655G>A (p.Gly219Arg)
|
|
|
|
NM_001378120.1(MBD5):c.666C>T (p.Pro222=)
|
rs1349108004
|
|
|
NM_001378120.1(MBD5):c.66T>C (p.Pro22=)
|
|
|
|
NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser)
|
rs1680672685
|
|
|
NM_001378120.1(MBD5):c.674C>T (p.Ala225Val)
|
rs1680672762
|
|
|
NM_001378120.1(MBD5):c.695A>G (p.Tyr232Cys)
|
|
|
|
NM_001378120.1(MBD5):c.696T>C (p.Tyr232=)
|
|
|
|
NM_001378120.1(MBD5):c.698G>A (p.Gly233Glu)
|
rs1680673882
|
|
|
NM_001378120.1(MBD5):c.698del (p.Gly233fs)
|
rs1680673822
|
|
|
NM_001378120.1(MBD5):c.706T>C (p.Ser236Pro)
|
|
|
|
NM_001378120.1(MBD5):c.706T>G (p.Ser236Ala)
|
rs1680674275
|
|
|
NM_001378120.1(MBD5):c.707C>G (p.Ser236Ter)
|
rs766179352
|
|
|
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys)
|
rs2105537073
|
|
|
NM_001378120.1(MBD5):c.710_725del (p.Ile237fs)
|
rs2105625178
|
|
|
NM_001378120.1(MBD5):c.728C>T (p.Pro243Leu)
|
|
|
|
NM_001378120.1(MBD5):c.742G>A (p.Asp248Asn)
|
|
|
|
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
|
|
|
|
NM_001378120.1(MBD5):c.754A>G (p.Arg252Gly)
|
|
|
|
NM_001378120.1(MBD5):c.755G>A (p.Arg252Lys)
|
rs1680677784
|
|
|
NM_001378120.1(MBD5):c.759T>G (p.Ser253Arg)
|
|
|
|
NM_001378120.1(MBD5):c.76C>T (p.Gln26Ter)
|
|
|
|
NM_001378120.1(MBD5):c.774T>C (p.His258=)
|
|
|
|
NM_001378120.1(MBD5):c.779C>A (p.Ala260Asp)
|
|
|
|
NM_001378120.1(MBD5):c.788C>G (p.Ser263Cys)
|
|
|
|
NM_001378120.1(MBD5):c.797T>G (p.Ile266Ser)
|
rs2105626027
|
|
|
NM_001378120.1(MBD5):c.798T>C (p.Ile266=)
|
rs1208664164
|
|
|
NM_001378120.1(MBD5):c.800A>G (p.His267Arg)
|
rs796052708
|
|
|
NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr)
|
rs768720064
|
|
|
NM_001378120.1(MBD5):c.809G>A (p.Arg270Lys)
|
|
|
|
NM_001378120.1(MBD5):c.80G>A (p.Arg27His)
|
rs1706965994
|
|
|
NM_001378120.1(MBD5):c.811A>G (p.Thr271Ala)
|
rs899476247
|
|
|
NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)
|
|
|
|
NM_001378120.1(MBD5):c.817C>G (p.Leu273Val)
|
rs776894242
|
|
|
NM_001378120.1(MBD5):c.81T>C (p.Arg27=)
|
rs746075256
|
|
|
NM_001378120.1(MBD5):c.825A>G (p.Pro275=)
|
|
|
|
NM_001378120.1(MBD5):c.826C>G (p.Pro276Ala)
|
|
|
|
NM_001378120.1(MBD5):c.82C>T (p.Arg28Cys)
|
|
|
|
NM_001378120.1(MBD5):c.840A>G (p.Leu280=)
|
rs2105626382
|
|
|
NM_001378120.1(MBD5):c.845G>A (p.Gly282Asp)
|
rs759201974
|
|
|
NM_001378120.1(MBD5):c.857A>G (p.Gln286Arg)
|
|
|
|
NM_001378120.1(MBD5):c.864C>G (p.Ser288=)
|
|
|
|
NM_001378120.1(MBD5):c.869C>G (p.Ala290Gly)
|
rs1559085941
|
|
|
NM_001378120.1(MBD5):c.871A>G (p.Met291Val)
|
rs1680681539
|
|
|
NM_001378120.1(MBD5):c.887A>G (p.Asn296Ser)
|
rs990703439
|
|
|
NM_001378120.1(MBD5):c.889A>C (p.Ile297Leu)
|
rs2105626905
|
|
|
NM_001378120.1(MBD5):c.889A>G (p.Ile297Val)
|
rs2105626905
|
|
|
NM_001378120.1(MBD5):c.893C>T (p.Pro298Leu)
|
|
|
|
NM_001378120.1(MBD5):c.8G>T (p.Gly3Val)
|
rs794727807
|
|
|
NM_001378120.1(MBD5):c.900C>T (p.Ser300=)
|
rs2105626982
|
|
|
NM_001378120.1(MBD5):c.920G>A (p.Ser307Asn)
|
|
|
|
NM_001378120.1(MBD5):c.923C>A (p.Pro308Gln)
|
|
|
|
NM_001378120.1(MBD5):c.924A>C (p.Pro308=)
|
rs778385281
|
|
|
NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr)
|
|
|
|
NM_001378120.1(MBD5):c.939A>G (p.Pro313=)
|
rs781250091
|
|
|
NM_001378120.1(MBD5):c.941T>C (p.Met314Thr)
|
rs1168673827
|
|
|
NM_001378120.1(MBD5):c.942G>A (p.Met314Ile)
|
|
|
|
NM_001378120.1(MBD5):c.947del (p.Asn316fs)
|
rs1680684706
|
|
|
NM_001378120.1(MBD5):c.948T>A (p.Asn316Lys)
|
|
|
|
NM_001378120.1(MBD5):c.971C>G (p.Pro324Arg)
|
|
|
|
NM_001378120.1(MBD5):c.979A>G (p.Met327Val)
|
rs1680685772
|
|
|
NM_001378120.1(MBD5):c.987C>T (p.His329=)
|
rs1574459598
|
|
|
NM_001378120.1(MBD5):c.989A>G (p.His330Arg)
|
rs750043178
|
|
|
NM_001379200.1(TBX1):c.1000G>A (p.Val334Met)
|
|
|
|
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
|
|
|
|
NM_001379200.1(TBX1):c.1008C>T (p.Ser336=)
|
|
|
|
NM_001379200.1(TBX1):c.1011G>A (p.Pro337=)
|
|
|
|
NM_001379200.1(TBX1):c.1015C>T (p.Gln339Ter)
|
|
|
|
NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala)
|
rs1335862067
|
|
|
NM_001379200.1(TBX1):c.1020C>T (p.Pro340=)
|
|
|
|
NM_001379200.1(TBX1):c.1023C>T (p.Ser341=)
|
rs1227296562
|
|
|
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys)
|
rs1294861011
|
|
|
NM_001379200.1(TBX1):c.1026C>T (p.Gly342=)
|
|
|
|
NM_001379200.1(TBX1):c.1027del (p.Thr343fs)
|
|
|
|
NM_001379200.1(TBX1):c.1028C>A (p.Thr343Lys)
|
|
|
|
NM_001379200.1(TBX1):c.1029G>A (p.Thr343=)
|
|
|
|
NM_001379200.1(TBX1):c.1030G>A (p.Glu344Lys)
|
|
|
|
NM_001379200.1(TBX1):c.1036+11G>A
|
|
|
|
NM_001379200.1(TBX1):c.1036+17G>A
|
rs1601292943
|
|
|
NM_001379200.1(TBX1):c.1036+18G>A
|
|
|
|
NM_001379200.1(TBX1):c.1036+18G>C
|
rs2145837264
|
|
|
NM_001379200.1(TBX1):c.1036+4G>T
|
rs1936826165
|
|
|
NM_001379200.1(TBX1):c.1036+6G>A
|
|
|
|
NM_001379200.1(TBX1):c.1036G>A (p.Asp346Asn)
|
|
|
|
NM_001379200.1(TBX1):c.1037-11C>T
|
|
|
|
NM_001379200.1(TBX1):c.1037-12C>T
|
|
|
|
NM_001379200.1(TBX1):c.1037-14G>T
|
|
|
|
NM_001379200.1(TBX1):c.1037-15C>G
|
|
|
|
NM_001379200.1(TBX1):c.1037-17C>G
|
|
|
|
NM_001379200.1(TBX1):c.1037-1G>A
|
rs1936844527
|
|
|
NM_001379200.1(TBX1):c.1037-6C>T
|
|
|
|
NM_001379200.1(TBX1):c.1037-7_1037-6del
|
rs1037168604
|
|
|
NM_001379200.1(TBX1):c.1041G>A (p.Ala347=)
|
|
|
|
NM_001379200.1(TBX1):c.1045G>A (p.Glu349Lys)
|
|
|
|
NM_001379200.1(TBX1):c.1046A>T (p.Glu349Val)
|
rs751917634
|
|
|
NM_001379200.1(TBX1):c.104G>A (p.Gly35Asp)
|
|
|
|
NM_001379200.1(TBX1):c.104G>T (p.Gly35Val)
|
|
|
|
NM_001379200.1(TBX1):c.1051C>A (p.Arg351=)
|
|
|
|
NM_001379200.1(TBX1):c.1051C>T (p.Arg351Trp)
|
|
|
|
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter)
|
rs1936845711
|
|
|
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser)
|
rs1046395605
|
|
|
NM_001379200.1(TBX1):c.1067G>A (p.Arg356His)
|
|
|
|
NM_001379200.1(TBX1):c.1070A>G (p.Asp357Gly)
|
|
|
|
NM_001379200.1(TBX1):c.1071C>A (p.Asp357Glu)
|
|
|
|
NM_001379200.1(TBX1):c.1072G>A (p.Ala358Thr)
|
|
|
|
NM_001379200.1(TBX1):c.1074G>C (p.Ala358=)
|
|
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
|
NM_001379200.1(TBX1):c.1076G>T (p.Gly359Val)
|
rs781731042
|
|
|
NM_001379200.1(TBX1):c.1085C>T (p.Ala362Val)
|
rs569581176
|
|
|
NM_001379200.1(TBX1):c.1089_1090delinsAA (p.Leu364Ile)
|
|
|
|
NM_001379200.1(TBX1):c.108C>T (p.Phe36=)
|
rs1378203817
|
|
|
NM_001379200.1(TBX1):c.1090C>T (p.Leu364Phe)
|
rs1200093941
|
|
|
NM_001379200.1(TBX1):c.1095G>A (p.Gly365=)
|
|
|
|
NM_001379200.1(TBX1):c.1096G>A (p.Asp366Asn)
|
|
|
|
NM_001379200.1(TBX1):c.1099C>G (p.Pro367Ala)
|
rs2145838185
|
|
|
NM_001379200.1(TBX1):c.109C>A (p.Pro37Thr)
|
rs2145827634
|
|
|
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=)
|
rs1010293843
|
|
|
NM_001379200.1(TBX1):c.1104G>C (p.Ala368=)
|
|
|
|
NM_001379200.1(TBX1):c.1105C>T (p.His369Tyr)
|
rs1936848458
|
|
|
NM_001379200.1(TBX1):c.1112C>T (p.Pro371Leu)
|
|
|
|
NM_001379200.1(TBX1):c.1117del (p.Leu373fs)
|
rs2145838229
|
|
|
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
|
|
|
|
NM_001379200.1(TBX1):c.1120C>T (p.Leu374=)
|
|
|
|
NM_001379200.1(TBX1):c.1121T>C (p.Leu374Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1125C>T (p.Ala375=)
|
rs1936849382
|
|
|
NM_001379200.1(TBX1):c.1135A>G (p.Ser379Gly)
|
rs2145838292
|
|
|
NM_001379200.1(TBX1):c.1137C>T (p.Ser379=)
|
|
|
|
NM_001379200.1(TBX1):c.1138C>T (p.Pro380Ser)
|
rs922499443
|
|
|
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu)
|
rs1936850184
|
|
|
NM_001379200.1(TBX1):c.1145T>C (p.Leu382Pro)
|
rs2145838313
|
|
|
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His)
|
rs953761540
|
|
|
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly)
|
rs1192078635
|
|
|
NM_001379200.1(TBX1):c.114C>A (p.Gly38=)
|
|
|
|
NM_001379200.1(TBX1):c.114C>T (p.Gly38=)
|
|
|
|
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly)
|
rs1555896709
|
|
|
NM_001379200.1(TBX1):c.1152G>C (p.Gly384=)
|
rs1354472648
|
|
|
NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)
|
|
|
|
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])
|
rs1288296547
|
|
|
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3])
|
rs1288296547
|
|
|
NM_001379200.1(TBX1):c.1158C>T (p.Gly386=)
|
|
|
|
NM_001379200.1(TBX1):c.115G>A (p.Ala39Thr)
|
|
|
|
NM_001379200.1(TBX1):c.115_213del (p.Ala39_Gly71del)
|
|
|
|
NM_001379200.1(TBX1):c.1160G>A (p.Gly387Asp)
|
rs2145838410
|
|
|
NM_001379200.1(TBX1):c.1161C>G (p.Gly387=)
|
|
|
|
NM_001379200.1(TBX1):c.1165G>A (p.Gly389Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1167C>A (p.Gly389=)
|
rs111605258
|
|
|
NM_001379200.1(TBX1):c.1167C>T (p.Gly389=)
|
|
|
|
NM_001379200.1(TBX1):c.1168G>C (p.Gly390Arg)
|
rs1408610906
|
|
|
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser)
|
rs1936852709
|
|
|
NM_001379200.1(TBX1):c.1178C>G (p.Pro393Arg)
|
|
|
|
NM_001379200.1(TBX1):c.117C>T (p.Ala39=)
|
|
|
|
NM_001379200.1(TBX1):c.1180C>A (p.Leu394Met)
|
|
|
|
NM_001379200.1(TBX1):c.1185C>T (p.Pro395=)
|
|
|
|
NM_001379200.1(TBX1):c.1189G>A (p.Ala397Thr)
|
rs2145838479
|
|
|
NM_001379200.1(TBX1):c.1194C>T (p.Pro398=)
|
|
|
|
NM_001379200.1(TBX1):c.1196G>A (p.Gly399Glu)
|
rs1274082696
|
|
|
NM_001379200.1(TBX1):c.1196G>T (p.Gly399Val)
|
|
|
|
NM_001379200.1(TBX1):c.1198G>C (p.Gly400Arg)
|
rs1936854182
|
|
|
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln)
|
rs1270901790
|
|
|
NM_001379200.1(TBX1):c.1204C>T (p.Pro402Ser)
|
rs1485590152
|
|
|
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg)
|
rs1936854828
|
|
|
NM_001379200.1(TBX1):c.1206_1207insGAACCCCGAGC (p.Ser403fs)
|
|
|
|
NM_001379200.1(TBX1):c.1208G>A (p.Ser403Asn)
|
rs749558577
|
|
|
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1212C>T (p.Pro404=)
|
rs1168835856
|
|
|
NM_001379200.1(TBX1):c.1214C>A (p.Pro405Gln)
|
rs746812421
|
|
|
NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser)
|
rs1936855908
|
|
|
NM_001379200.1(TBX1):c.1221C>A (p.Pro407=)
|
rs1305509653
|
|
|
NM_001379200.1(TBX1):c.1224G>A (p.Glu408=)
|
|
|
|
NM_001379200.1(TBX1):c.1231C>T (p.Leu411=)
|
rs2145838647
|
|
|
NM_001379200.1(TBX1):c.1238C>T (p.Ala413Val)
|
|
|
|
NM_001379200.1(TBX1):c.1239G>A (p.Ala413=)
|
rs1228513970
|
|
|
NM_001379200.1(TBX1):c.1239G>C (p.Ala413=)
|
|
|
|
NM_001379200.1(TBX1):c.1239G>T (p.Ala413=)
|
|
|
|
NM_001379200.1(TBX1):c.1242C>A (p.Pro414=)
|
rs200135498
|
|
|
NM_001379200.1(TBX1):c.1242C>G (p.Pro414=)
|
rs200135498
|
|
|
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
|
|
|
|
NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser)
|
rs2145827697
|
|
|
NM_001379200.1(TBX1):c.1250C>T (p.Ser417Leu)
|
rs779281442
|
|
|
NM_001379200.1(TBX1):c.1251G>C (p.Ser417=)
|
rs770781746
|
|
|
NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)
|
|
|
|
NM_001379200.1(TBX1):c.1254G>T (p.Glu418Asp)
|
|
|
|
NM_001379200.1(TBX1):c.1256C>T (p.Pro419Leu)
|
|
|
|
NM_001379200.1(TBX1):c.1260G>A (p.Leu420=)
|
|
|
|
NM_001379200.1(TBX1):c.1261C>A (p.His421Asn)
|
rs985907694
|
|
|
NM_001379200.1(TBX1):c.1263C>T (p.His421=)
|
|
|
|
NM_001379200.1(TBX1):c.1265A>G (p.His422Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1266_1267delinsAT (p.His422_His423delinsGlnTyr)
|
|
|
|
NM_001379200.1(TBX1):c.1268A>C (p.His423Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1269C>T (p.His423=)
|
rs761327170
|
|
|
NM_001379200.1(TBX1):c.126C>T (p.Pro42=)
|
|
|
|
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His)
|
rs1243986502
|
|
|
NM_001379200.1(TBX1):c.1275C>T (p.Tyr425=)
|
rs2145838867
|
|
|
NM_001379200.1(TBX1):c.1276A>C (p.Lys426Gln)
|
|
|
|
NM_001379200.1(TBX1):c.127G>A (p.Gly43Ser)
|
rs1936637392
|
|
|
NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys)
|
rs1936637392
|
|
|
NM_001379200.1(TBX1):c.1280A>T (p.Tyr427Phe)
|
rs1601294456
|
|
|
NM_001379200.1(TBX1):c.1282C>T (p.Pro428Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1283C>G (p.Pro428Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1296C>T (p.Tyr432=)
|
|
|
|
NM_001379200.1(TBX1):c.1297G>T (p.Asp433Tyr)
|
rs758517884
|
|
|
NM_001379200.1(TBX1):c.1299C>A (p.Asp433Glu)
|
|
|
|
NM_001379200.1(TBX1):c.1301A>C (p.His434Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1302_1304del (p.Tyr435del)
|
rs1936861633
|
|
|
NM_001379200.1(TBX1):c.1306C>T (p.Leu436Phe)
|
|
|
|
NM_001379200.1(TBX1):c.1309G>T (p.Gly437Trp)
|
|
|
|
NM_001379200.1(TBX1):c.1311G>A (p.Gly437=)
|
|
|
|
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1317G>A (p.Lys439=)
|
|
|
|
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg)
|
rs2145838985
|
|
|
NM_001379200.1(TBX1):c.1321C>T (p.Arg441Trp)
|
|
|
|
NM_001379200.1(TBX1):c.1341G>T (p.Leu447=)
|
|
|
|
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
|
|
|
|
NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser)
|
rs777873225
|
|
|
NM_001379200.1(TBX1):c.1345G>C (p.Gly449Arg)
|
rs777873225
|
|
|
NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val)
|
rs751740430
|
|
|
NM_001379200.1(TBX1):c.1356C>T (p.Gly452=)
|
|
|
|
NM_001379200.1(TBX1):c.1361_1375del (p.Gly454_His458del)
|
|
|
|
NM_001379200.1(TBX1):c.1361_1384dup (p.Pro461_His462insArgTyrHisProHisAlaHisPro)
|
|
|
|
NM_001379200.1(TBX1):c.1363T>C (p.Tyr455His)
|
|
|
|
NM_001379200.1(TBX1):c.1368C>A (p.His456Gln)
|
rs1601294758
|
|
|
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)
|
rs774578030
|
|
|
NM_001379200.1(TBX1):c.1369C>T (p.Pro457Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1370C>G (p.Pro457Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1375_1386dup (p.His462_His463insAlaHisProHis)
|
|
|
|
NM_001379200.1(TBX1):c.1375dup (p.Ala459fs)
|
|
|
|
NM_001379200.1(TBX1):c.1376C>T (p.Ala459Val)
|
rs1936866904
|
|
|
NM_001379200.1(TBX1):c.1377G>A (p.Ala459=)
|
|
|
|
NM_001379200.1(TBX1):c.1377G>T (p.Ala459=)
|
rs771540171
|
|
|
NM_001379200.1(TBX1):c.1379A>T (p.His460Leu)
|
rs1384737337
|
|
|
NM_001379200.1(TBX1):c.1380T>A (p.His460Gln)
|
|
|
|
NM_001379200.1(TBX1):c.1380T>C (p.His460=)
|
rs367711718
|
|
|
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln)
|
rs367711718
|
|
|
NM_001379200.1(TBX1):c.1381C>T (p.Pro461Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1382C>T (p.Pro461Leu)
|
rs1936867566
|
|
|
NM_001379200.1(TBX1):c.1385ACC[3] (p.His465_His466del)
|
rs753713234
|
|
|
NM_001379200.1(TBX1):c.1385ACC[4] (p.His466del)
|
rs753713234
|
|
|
NM_001379200.1(TBX1):c.1385ACC[6] (p.His466_Pro467insHis)
|
|
|
|
NM_001379200.1(TBX1):c.1385ACC[7] (p.His466_Pro467insHisHis)
|
|
|
|
NM_001379200.1(TBX1):c.1387C>A (p.His463Asn)
|
|
|
|
NM_001379200.1(TBX1):c.1388A>G (p.His463Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1393C>G (p.His465Asp)
|
rs2145839292
|
|
|
NM_001379200.1(TBX1):c.1394_1397dup (p.His466fs)
|
|
|
|
NM_001379200.1(TBX1):c.1399C>A (p.Pro467Thr)
|
rs765827356
|
|
|
NM_001379200.1(TBX1):c.1399C>T (p.Pro467Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1400C>T (p.Pro467Leu)
|
rs1936869060
|
|
|
NM_001379200.1(TBX1):c.1401C>T (p.Pro467=)
|
rs753192876
|
|
|
NM_001379200.1(TBX1):c.1402G>T (p.Val468Leu)
|
rs764197422
|
|
|
NM_001379200.1(TBX1):c.1408_1416del (p.Pro470_Ala472del)
|
|
|
|
NM_001379200.1(TBX1):c.1408_1446del (p.Pro470_Ala482del)
|
rs1238730283
|
|
|
NM_001379200.1(TBX1):c.1410A>G (p.Pro470=)
|
|
|
|
NM_001379200.1(TBX1):c.1410_1448del (p.Ala473_Ala485del)
|
rs764911027
|
|
|
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del)
|
rs752498057
|
|
|
NM_001379200.1(TBX1):c.1414_1415del (p.Ala472fs)
|
|
|
|
NM_001379200.1(TBX1):c.1417G>T (p.Ala473Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1419_1421dup (p.Ala485_Asn486insAla)
|
|
|
|
NM_001379200.1(TBX1):c.1419_1424dup (p.Ala484_Ala485dup)
|
rs1478207118
|
|
|
NM_001379200.1(TBX1):c.1419_1427del (p.Ala483_Ala485del)
|
rs777514486
|
|
|
NM_001379200.1(TBX1):c.1419_1427dup (p.Ala485_Asn486insAlaAlaAla)
|
|
|
|
NM_001379200.1(TBX1):c.1419_1430del (p.Ala482_Ala485del)
|
rs751264690
|
|
|
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del)
|
rs780815537
|
|
|
NM_001379200.1(TBX1):c.141C>T (p.Tyr47=)
|
|
|
|
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
|
|
|
|
NM_001379200.1(TBX1):c.1422C>T (p.Ala474=)
|
|
|
|
NM_001379200.1(TBX1):c.1422CGC[1] (p.Ala483_Ala485del)
|
|
|
|
NM_001379200.1(TBX1):c.1422CGC[5] (p.Ala485dup)
|
rs756680878
|
|
|
NM_001379200.1(TBX1):c.1422CGC[6] (p.Ala485_Asn486insAlaAla)
|
|
|
|
NM_001379200.1(TBX1):c.1423G>A (p.Ala475Thr)
|
|
|
|
NM_001379200.1(TBX1):c.1426_1455del (p.Ala476_Ala485del)
|
rs746335599
|
|
|
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
rs746335599
|
|
|
NM_001379200.1(TBX1):c.1428C>T (p.Ala476=)
|
|
|
|
NM_001379200.1(TBX1):c.1431C>A (p.Ala477=)
|
|
|
|
NM_001379200.1(TBX1):c.1431_1439del (p.Ala483_Ala485del)
|
rs774489872
|
|
|
NM_001379200.1(TBX1):c.1434T>C (p.Ala478=)
|
|
|
|
NM_001379200.1(TBX1):c.1434T>G (p.Ala478=)
|
|
|
|
NM_001379200.1(TBX1):c.1436_1474dup (p.Ala479_Ala491dup)
|
rs1569024504
|
|
|
NM_001379200.1(TBX1):c.1437C>G (p.Ala479=)
|
|
|
|
NM_001379200.1(TBX1):c.143G>T (p.Gly48Val)
|
|
|
|
NM_001379200.1(TBX1):c.1440A>G (p.Ala480=)
|
|
|
|
NM_001379200.1(TBX1):c.1440_1448del (p.Ala483_Ala485del)
|
rs748434309
|
|
|
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup)
|
rs748434309
|
|
|
NM_001379200.1(TBX1):c.1440_1454dup (p.Ala485_Asn486insAlaAlaAlaAlaAla)
|
|
|
|
NM_001379200.1(TBX1):c.1443T>C (p.Ala481=)
|
|
|
|
NM_001379200.1(TBX1):c.1443_1451dup (p.Ala483_Ala485dup)
|
rs760701410
|
|
|
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1451C>T (p.Ala484Val)
|
rs1407079342
|
|
|
NM_001379200.1(TBX1):c.1459A>G (p.Met487Val)
|
|
|
|
NM_001379200.1(TBX1):c.1461G>A (p.Met487Ile)
|
rs371506174
|
|
|
NM_001379200.1(TBX1):c.1465T>C (p.Ser489Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1465TCG[1] (p.Ser490del)
|
|
|
|
NM_001379200.1(TBX1):c.1466C>T (p.Ser489Leu)
|
rs2145839683
|
|
|
NM_001379200.1(TBX1):c.1468T>C (p.Ser490Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1473C>T (p.Ala491=)
|
rs775895785
|
|
|
NM_001379200.1(TBX1):c.1474G>T (p.Gly492Ter)
|
rs541198585
|
|
|
NM_001379200.1(TBX1):c.1483_1488del (p.Pro495_Pro496del)
|
|
|
|
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln)
|
rs762076391
|
|
|
NM_001379200.1(TBX1):c.1488C>T (p.Pro496=)
|
|
|
|
NM_001379200.1(TBX1):c.1495T>G (p.Tyr499Asp)
|
|
|
|
NM_001379200.1(TBX1):c.1500C>T (p.Asp500=)
|
|
|
|
NM_001379200.1(TBX1):c.1501T>A (p.Tyr501Asn)
|
|
|
|
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
|
|
|
|
NM_001379200.1(TBX1):c.1508C>T (p.Pro503Leu)
|
|
|
|
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)
|
rs1601282938
|
|
|
NM_001379200.1(TBX1):c.153G>A (p.Glu51=)
|
|
|
|
NM_001379200.1(TBX1):c.154C>A (p.Pro52Thr)
|
|
|
|
NM_001379200.1(TBX1):c.156C>A (p.Pro52=)
|
|
|
|
NM_001379200.1(TBX1):c.156C>T (p.Pro52=)
|
|
|
|
NM_001379200.1(TBX1):c.157C>T (p.Pro53Ser)
|
rs1936638931
|
|
|
NM_001379200.1(TBX1):c.158CGC[3] (p.Pro56_Pro57del)
|
rs886038791
|
|
|
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup)
|
rs886038791
|
|
|
NM_001379200.1(TBX1):c.166C>T (p.Pro56Ser)
|
|
|
|
NM_001379200.1(TBX1):c.167_229del (p.Pro56_Pro76del)
|
rs2145827836
|
|
|
NM_001379200.1(TBX1):c.170C>T (p.Pro57Leu)
|
|
|
|
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)
|
|
|
|
NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del)
|
rs1569018211
|
|
|
NM_001379200.1(TBX1):c.182C>T (p.Pro61Leu)
|
rs1936640287
|
|
|
NM_001379200.1(TBX1):c.183G>T (p.Pro61=)
|
rs1422322991
|
|
|
NM_001379200.1(TBX1):c.185G>A (p.Cys62Tyr)
|
|
|
|
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter)
|
rs2145827917
|
|
|
NM_001379200.1(TBX1):c.187GCC[3] (p.Ala66del)
|
|
|
|
NM_001379200.1(TBX1):c.187GCC[5] (p.Ala66dup)
|
rs1032291296
|
|
|
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup)
|
rs1032291296
|
|
|
NM_001379200.1(TBX1):c.187GCC[7] (p.Ala64_Ala66dup)
|
rs1032291296
|
|
|
NM_001379200.1(TBX1):c.194_202del (p.Ala65_Pro67del)
|
rs1601283061
|
|
|
NM_001379200.1(TBX1):c.195C>A (p.Ala65=)
|
|
|
|
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs)
|
rs2145827929
|
|
|
NM_001379200.1(TBX1):c.198_229dup (p.His77fs)
|
|
|
|
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs)
|
rs1936640897
|
|
|
NM_001379200.1(TBX1):c.199_227del (p.Pro67fs)
|
|
|
|
NM_001379200.1(TBX1):c.201dup (p.Gly68fs)
|
|
|
|
NM_001379200.1(TBX1):c.203G>A (p.Gly68Asp)
|
|
|
|
NM_001379200.1(TBX1):c.212G>A (p.Gly71Asp)
|
|
|
|
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
|
|
|
|
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup)
|
rs1009463279
|
|
|
NM_001379200.1(TBX1):c.215CGC[7] (p.Pro75_Pro76dup)
|
rs1009463279
|
|
|
NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu)
|
rs1936642852
|
|
|
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser)
|
rs1936642931
|
|
|
NM_001379200.1(TBX1):c.221C>T (p.Pro74Leu)
|
|
|
|
NM_001379200.1(TBX1):c.224C>T (p.Pro75Leu)
|
|
|
|
NM_001379200.1(TBX1):c.225G>C (p.Pro75=)
|
|
|
|
NM_001379200.1(TBX1):c.227C>T (p.Pro76Leu)
|
|
|
|
NM_001379200.1(TBX1):c.228G>T (p.Pro76=)
|
|
|
|
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
|
|
|
|
NM_001379200.1(TBX1):c.230A>T (p.His77Leu)
|
|
|
|
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr)
|
rs1028072654
|
|
|
NM_001379200.1(TBX1):c.234C>T (p.Ala78=)
|
|
|
|
NM_001379200.1(TBX1):c.237C>T (p.Tyr79=)
|
|
|
|
NM_001379200.1(TBX1):c.239C>A (p.Pro80Gln)
|
|
|
|
NM_001379200.1(TBX1):c.239C>G (p.Pro80Arg)
|
rs984681986
|
|
|
NM_001379200.1(TBX1):c.240G>A (p.Pro80=)
|
|
|
|
NM_001379200.1(TBX1):c.243del (p.Phe81fs)
|
|
|
|
NM_001379200.1(TBX1):c.245C>A (p.Ala82Glu)
|
|
|
|
NM_001379200.1(TBX1):c.246G>T (p.Ala82=)
|
rs1201666534
|
|
|
NM_001379200.1(TBX1):c.247C>T (p.Pro83Ser)
|
|
|
|
NM_001379200.1(TBX1):c.253G>A (p.Ala85Thr)
|
rs769629385
|
|
|
NM_001379200.1(TBX1):c.258G>A (p.Gly86=)
|
|
|
|
NM_001379200.1(TBX1):c.258G>C (p.Gly86=)
|
|
|
|
NM_001379200.1(TBX1):c.259G>T (p.Ala87Ser)
|
|
|
|
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
|
|
|
|
NM_001379200.1(TBX1):c.265_276del (p.Thr89_Ala92del)
|
|
|
|
NM_001379200.1(TBX1):c.273C>T (p.Ala91=)
|
rs1936644941
|
|
|
NM_001379200.1(TBX1):c.277_278delinsAA (p.Ala93Asn)
|
|
|
|
NM_001379200.1(TBX1):c.284C>G (p.Pro95Arg)
|
rs775295536
|
|
|
NM_001379200.1(TBX1):c.285C>G (p.Pro95=)
|
|
|
|
NM_001379200.1(TBX1):c.290G>A (p.Gly97Asp)
|
|
|
|
NM_001379200.1(TBX1):c.297G>A (p.Gly99=)
|
|
|
|
NM_001379200.1(TBX1):c.302G>C (p.Ser101Thr)
|
|
|
|
NM_001379200.1(TBX1):c.306C>T (p.Cys102=)
|
|
|
|
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr)
|
rs1936647003
|
|
|
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter)
|
rs1555895466
|
|
|
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
|
|
|
|
NM_001379200.1(TBX1):c.324G>T (p.Ala108=)
|
|
|
|
NM_001379200.1(TBX1):c.326C>T (p.Pro109Leu)
|
rs754087937
|
|
|
NM_001379200.1(TBX1):c.328G>T (p.Val110Leu)
|
rs1221938042
|
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
|
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
|
|
|
|
NM_001379200.1(TBX1):c.341C>T (p.Ala114Val)
|
|
|
|
NM_001379200.1(TBX1):c.353G>A (p.Gly118Asp)
|
|
|
|
NM_001379200.1(TBX1):c.363G>T (p.Val121=)
|
|
|
|
NM_001379200.1(TBX1):c.366G>C (p.Gln122His)
|
|
|
|
NM_001379200.1(TBX1):c.369A>G (p.Leu123=)
|
rs541899328
|
|
|
NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
|
|
|
|
NM_001379200.1(TBX1):c.373A>T (p.Met125Leu)
|
|
|
|
NM_001379200.1(TBX1):c.380C>T (p.Ala127Val)
|
rs1601283489
|
|
|
NM_001379200.1(TBX1):c.381G>T (p.Ala127=)
|
|
|
|
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu)
|
rs772419022
|
|
|
NM_001379200.1(TBX1):c.399C>T (p.Asn133=)
|
rs2145828636
|
|
|
NM_001379200.1(TBX1):c.402G>C (p.Gln134His)
|
|
|
|
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)
|
rs1445910672
|
|
|
NM_001379200.1(TBX1):c.421G>C (p.Val141Leu)
|
|
|
|
NM_001379200.1(TBX1):c.428A>G (p.Lys143Arg)
|
|
|
|
NM_001379200.1(TBX1):c.429G>A (p.Lys143=)
|
|
|
|
NM_001379200.1(TBX1):c.42G>T (p.Ser14=)
|
|
|
|
NM_001379200.1(TBX1):c.432C>T (p.Ala144=)
|
|
|
|
NM_001379200.1(TBX1):c.433G>A (p.Gly145Ser)
|
|
|
|
NM_001379200.1(TBX1):c.437+18C>G
|
|
|
|
NM_001379200.1(TBX1):c.437+18C>T
|
|
|
|
NM_001379200.1(TBX1):c.437+3C>G
|
rs759797253
|
|
|
NM_001379200.1(TBX1):c.437+3C>T
|
rs759797253
|
|
|
NM_001379200.1(TBX1):c.437+8C>T
|
|
|
|
NM_001379200.1(TBX1):c.438-14C>G
|
|
|
|
NM_001379200.1(TBX1):c.438-5C>A
|
rs972035685
|
|
|
NM_001379200.1(TBX1):c.438G>A (p.Arg146=)
|
rs2145832204
|
|
|
NM_001379200.1(TBX1):c.439C>T (p.Arg147Trp)
|
rs1936724586
|
|
|
NM_001379200.1(TBX1):c.447T>G (p.Phe149Leu)
|
rs41298814
|
|
|
NM_001379200.1(TBX1):c.448C>T (p.Pro150Ser)
|
rs1936725102
|
|
|
NM_001379200.1(TBX1):c.45T>C (p.His15=)
|
|
|
|
NM_001379200.1(TBX1):c.465G>A (p.Lys155=)
|
|
|
|
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
|
|
|
|
NM_001379200.1(TBX1):c.470T>C (p.Phe157Ser)
|
|
|
|
NM_001379200.1(TBX1):c.474C>T (p.Gly158=)
|
|
|
|
NM_001379200.1(TBX1):c.483C>G (p.Pro161=)
|
|
|
|
NM_001379200.1(TBX1):c.485T>C (p.Met162Thr)
|
|
|
|
NM_001379200.1(TBX1):c.490G>A (p.Asp164Asn)
|
|
|
|
NM_001379200.1(TBX1):c.496A>G (p.Met166Val)
|
|
|
|
NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)
|
|
|
|
NM_001379200.1(TBX1):c.502C>T (p.Leu168Phe)
|
|
|
|
NM_001379200.1(TBX1):c.507G>A (p.Met169Ile)
|
|
|
|
NM_001379200.1(TBX1):c.511T>A (p.Phe171Ile)
|
rs2145832375
|
|
|
NM_001379200.1(TBX1):c.513C>T (p.Phe171=)
|
rs764371266
|
|
|
NM_001379200.1(TBX1):c.514G>A (p.Val172Met)
|
|
|
|
NM_001379200.1(TBX1):c.518C>A (p.Pro173Gln)
|
rs766205381
|
|
|
NM_001379200.1(TBX1):c.519G>T (p.Pro173=)
|
|
|
|
NM_001379200.1(TBX1):c.51C>T (p.Cys17=)
|
rs2145827460
|
|
|
NM_001379200.1(TBX1):c.526G>A (p.Asp176Asn)
|
|
|
|
NM_001379200.1(TBX1):c.527A>G (p.Asp176Gly)
|
|
|
|
NM_001379200.1(TBX1):c.538C>A (p.Arg180=)
|
rs746384751
|
|
|
NM_001379200.1(TBX1):c.538C>T (p.Arg180Trp)
|
|
|
|
NM_001379200.1(TBX1):c.539+14dup
|
|
|
|
NM_001379200.1(TBX1):c.539+16dup
|
|
|
|
NM_001379200.1(TBX1):c.539+6C>T
|
|
|
|
NM_001379200.1(TBX1):c.539+7G>C
|
rs780062926
|
|
|
NM_001379200.1(TBX1):c.539+8A>T
|
|
|
|
NM_001379200.1(TBX1):c.539+8_539+10dup
|
rs2145832489
|
|
|
NM_001379200.1(TBX1):c.539G>A (p.Arg180Gln)
|
rs770313856
|
|
|
NM_001379200.1(TBX1):c.540-12G>C
|
|
|
|
NM_001379200.1(TBX1):c.540-18C>T
|
|
|
|
NM_001379200.1(TBX1):c.546C>T (p.Ala182=)
|
rs1035684349
|
|
|
NM_001379200.1(TBX1):c.562T>C (p.Trp188Arg)
|
|
|
|
NM_001379200.1(TBX1):c.569T>C (p.Val190Ala)
|
|
|
|
NM_001379200.1(TBX1):c.570G>A (p.Val190=)
|
rs2145833805
|
|
|
NM_001379200.1(TBX1):c.573G>C (p.Ala191=)
|
|
|
|
NM_001379200.1(TBX1):c.591C>T (p.Ala197=)
|
rs1601289330
|
|
|
NM_001379200.1(TBX1):c.595C>T (p.Pro199Ser)
|
|
|
|
NM_001379200.1(TBX1):c.603C>T (p.Arg201=)
|
rs761495882
|
|
|
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
|
|
|
|
NM_001379200.1(TBX1):c.606G>A (p.Val202=)
|
|
|
|
NM_001379200.1(TBX1):c.608A>G (p.His203Arg)
|
|
|
|
NM_001379200.1(TBX1):c.612C>T (p.Tyr204=)
|
|
|
|
NM_001379200.1(TBX1):c.615C>T (p.His205=)
|
|
|
|
NM_001379200.1(TBX1):c.616C>G (p.Pro206Ala)
|
|
|
|
NM_001379200.1(TBX1):c.627T>C (p.Pro209=)
|
|
|
|
NM_001379200.1(TBX1):c.638C>T (p.Ala213Val)
|
|
|
|
NM_001379200.1(TBX1):c.639G>A (p.Ala213=)
|
|
|
|
NM_001379200.1(TBX1):c.639G>T (p.Ala213=)
|
rs778071107
|
|
|
NM_001379200.1(TBX1):c.646A>G (p.Met216Val)
|
rs1224140312
|
|
|
NM_001379200.1(TBX1):c.654A>G (p.Gln218=)
|
rs2145834016
|
|
|
NM_001379200.1(TBX1):c.657C>A (p.Ile219=)
|
|
|
|
NM_001379200.1(TBX1):c.660G>A (p.Val220=)
|
|
|
|
NM_001379200.1(TBX1):c.667G>A (p.Asp223Asn)
|
rs2145834053
|
|
|
NM_001379200.1(TBX1):c.679C>T (p.Leu227=)
|
|
|
|
NM_001379200.1(TBX1):c.684C>A (p.Thr228=)
|
|
|
|
NM_001379200.1(TBX1):c.68C>A (p.Thr23Lys)
|
|
|
|
NM_001379200.1(TBX1):c.702C>T (p.Asp234=)
|
rs2145834112
|
|
|
NM_001379200.1(TBX1):c.706G>A (p.Gly236Ser)
|
rs1294894854
|
|
|
NM_001379200.1(TBX1):c.708C>G (p.Gly236=)
|
|
|
|
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr)
|
rs965143242
|
|
|
NM_001379200.1(TBX1):c.711+13C>T
|
|
|
|
NM_001379200.1(TBX1):c.711+16C>T
|
|
|
|
NM_001379200.1(TBX1):c.711+1G>A
|
rs1731409120
|
|
|
NM_001379200.1(TBX1):c.711+6C>T
|
|
|
|
NM_001379200.1(TBX1):c.712-12C>T
|
|
|
|
NM_001379200.1(TBX1):c.712-4C>G
|
|
|
|
NM_001379200.1(TBX1):c.732C>T (p.His244=)
|
|
|
|
NM_001379200.1(TBX1):c.754G>A (p.Val252Met)
|
|
|
|
NM_001379200.1(TBX1):c.761A>C (p.Tyr254Ser)
|
|
|
|
NM_001379200.1(TBX1):c.761A>G (p.Tyr254Cys)
|
|
|
|
NM_001379200.1(TBX1):c.762T>C (p.Tyr254=)
|
|
|
|
NM_001379200.1(TBX1):c.772C>T (p.Arg258Cys)
|
|
|
|
NM_001379200.1(TBX1):c.784G>C (p.Glu262Gln)
|
rs553807294
|
|
|
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs)
|
rs2145835194
|
|
|
NM_001379200.1(TBX1):c.795C>T (p.Ala265=)
|
|
|
|
NM_001379200.1(TBX1):c.796G>A (p.Glu266Lys)
|
|
|
|
NM_001379200.1(TBX1):c.801G>T (p.Glu267Asp)
|
|
|
|
NM_001379200.1(TBX1):c.813C>T (p.Thr271=)
|
rs989667101
|
|
|
NM_001379200.1(TBX1):c.820T>C (p.Phe274Leu)
|
|
|
|
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)
|
rs144848597
|
|
|
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
|
|
|
|
NM_001379200.1(TBX1):c.840C>G (p.Thr280=)
|
|
|
|
NM_001379200.1(TBX1):c.843G>A (p.Ala281=)
|
|
|
|
NM_001379200.1(TBX1):c.848C>G (p.Thr283Ser)
|
rs2145835312
|
|
|
NM_001379200.1(TBX1):c.867+12_867+24del
|
|
|
|
NM_001379200.1(TBX1):c.867+18G>A
|
|
|
|
NM_001379200.1(TBX1):c.868-16A>T
|
|
|
|
NM_001379200.1(TBX1):c.868-19CA[3]
|
|
|
|
NM_001379200.1(TBX1):c.868-20T>G
|
rs2145836392
|
|
|
NM_001379200.1(TBX1):c.868-4G>A
|
|
|
|
NM_001379200.1(TBX1):c.868-6C>T
|
|
|
|
NM_001379200.1(TBX1):c.868-7C>T
|
|
|
|
NM_001379200.1(TBX1):c.870C>A (p.Ile290=)
|
|
|
|
NM_001379200.1(TBX1):c.876G>A (p.Gln292=)
|
|
|
|
NM_001379200.1(TBX1):c.881del (p.Lys294fs)
|
rs2145836457
|
|
|
NM_001379200.1(TBX1):c.884T>C (p.Ile295Thr)
|
|
|
|
NM_001379200.1(TBX1):c.897C>T (p.Pro299=)
|
|
|
|
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)
|
rs1936634853
|
|
|
NM_001379200.1(TBX1):c.909C>T (p.Gly303=)
|
|
|
|
NM_001379200.1(TBX1):c.911T>C (p.Phe304Ser)
|
|
|
|
NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr)
|
rs1936813859
|
|
|
NM_001379200.1(TBX1):c.92G>T (p.Gly31Val)
|
|
|
|
NM_001379200.1(TBX1):c.930G>A (p.Glu310=)
|
rs1185050794
|
|
|
NM_001379200.1(TBX1):c.935+14C>T
|
|
|
|
NM_001379200.1(TBX1):c.935+15C>T
|
|
|
|
NM_001379200.1(TBX1):c.935+16C>A
|
rs200879129
|
|
|
NM_001379200.1(TBX1):c.935+16dup
|
|
|
|
NM_001379200.1(TBX1):c.935+17G>A
|
|
|
|
NM_001379200.1(TBX1):c.935+17GA[2]
|
rs770044781
|
|
|
NM_001379200.1(TBX1):c.935+17del
|
|
|
|
NM_001379200.1(TBX1):c.935+19G>C
|
|
|
|
NM_001379200.1(TBX1):c.936-15G>A
|
|
|
|
NM_001379200.1(TBX1):c.936-15G>C
|
|
|
|
NM_001379200.1(TBX1):c.936-16C>A
|
|
|
|
NM_001379200.1(TBX1):c.936-4G>C
|
|
|
|
NM_001379200.1(TBX1):c.936-6C>T
|
|
|
|
NM_001379200.1(TBX1):c.936-8G>A
|
rs753380966
|
|
|
NM_001379200.1(TBX1):c.936-9C>G
|
|
|
|
NM_001379200.1(TBX1):c.936-9C>T
|
|
|
|
NM_001379200.1(TBX1):c.936-9del
|
rs763127510
|
|
|
NM_001379200.1(TBX1):c.938C>A (p.Pro313His)
|
rs1014592830
|
|
|
NM_001379200.1(TBX1):c.938C>T (p.Pro313Leu)
|
|
|
|
NM_001379200.1(TBX1):c.942G>T (p.Arg314=)
|
|
|
|
NM_001379200.1(TBX1):c.949C>G (p.Arg317Gly)
|
|
|
|
NM_001379200.1(TBX1):c.950G>T (p.Arg317Leu)
|
|
|
|
NM_001379200.1(TBX1):c.954_965del (p.Gly319_Pro322del)
|
|
|
|
NM_001379200.1(TBX1):c.955G>T (p.Gly319Cys)
|
rs41298838
|
|
|
NM_001379200.1(TBX1):c.965C>A (p.Pro322Gln)
|
|
|
|
NM_001379200.1(TBX1):c.966G>A (p.Pro322=)
|
|
|
|
NM_001379200.1(TBX1):c.971T>G (p.Met324Arg)
|
|
|
|
NM_001379200.1(TBX1):c.972G>C (p.Met324Ile)
|
|
|
|
NM_001379200.1(TBX1):c.974G>C (p.Ser325Thr)
|
rs775788782
|
|
|
NM_001379200.1(TBX1):c.985C>T (p.Arg329Cys)
|
rs773107514
|
|
|
NM_001379200.1(TBX1):c.990G>A (p.Ser330=)
|
|
|
|
NM_002397.5(MEF2C):c.1002T>C (p.Ser334=)
|
rs2152208828
|
|
|
NM_002397.5(MEF2C):c.1005G>T (p.Gly335=)
|
|
|
|
NM_002397.5(MEF2C):c.1011C>T (p.Asn337=)
|
|
|
|
NM_002397.5(MEF2C):c.1017C>T (p.Ala339=)
|
rs1581323265
|
|
|
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln)
|
rs796052727
|
|
|
NM_002397.5(MEF2C):c.1030C>T (p.Leu344Phe)
|
rs980341351
|
|
|
NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)
|
|
|
|
NM_002397.5(MEF2C):c.1038A>T (p.Ser346=)
|
|
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
|
NM_002397.5(MEF2C):c.1056G>A (p.Gln352=)
|
|
|
|
NM_002397.5(MEF2C):c.105G>A (p.Leu35=)
|
|
|
|
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser)
|
rs1481007836
|
|
|
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe)
|
rs2152207244
|
|
|
NM_002397.5(MEF2C):c.108C>T (p.Ser36=)
|
rs143129901
|
|
|
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
|
|
|
|
NM_002397.5(MEF2C):c.1100+17T>C
|
|
|
|
NM_002397.5(MEF2C):c.1100+18T>C
|
|
|
|
NM_002397.5(MEF2C):c.1100+6C>G
|
rs1759908843
|
|
|
NM_002397.5(MEF2C):c.1101-20G>A
|
|
|
|
NM_002397.5(MEF2C):c.1119T>C (p.His373=)
|
rs2152046393
|
|
|
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His)
|
rs1756837959
|
|
|
NM_002397.5(MEF2C):c.1135A>C (p.Asn379His)
|
|
|
|
NM_002397.5(MEF2C):c.1138C>A (p.Leu380Ile)
|
|
|
|
NM_002397.5(MEF2C):c.1139T>A (p.Leu380His)
|
|
|
|
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=)
|
rs34381004
|
|
|
NM_002397.5(MEF2C):c.1218G>T (p.Ser406=)
|
rs759655835
|
|
|
NM_002397.5(MEF2C):c.1233C>T (p.His411=)
|
|
|
|
NM_002397.5(MEF2C):c.1236G>A (p.Thr412=)
|
|
|
|
NM_002397.5(MEF2C):c.1239C>A (p.Arg413=)
|
|
|
|
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val)
|
rs768570497
|
|
|
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
|
|
|
|
NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)
|
|
|
|
NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup)
|
rs1272732104
|
|
|
NM_002397.5(MEF2C):c.1299G>A (p.Gly433=)
|
rs771241026
|
|
|
NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn)
|
|
|
|
NM_002397.5(MEF2C):c.1302C>T (p.Ser434=)
|
|
|
|
NM_002397.5(MEF2C):c.131C>A (p.Ala44Glu)
|
|
|
|
NM_002397.5(MEF2C):c.131C>T (p.Ala44Val)
|
rs1799664202
|
|
|
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro)
|
rs1554098567
|
|
|
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg)
|
rs2152042647
|
|
|
NM_002397.5(MEF2C):c.1337C>T (p.Pro446Leu)
|
|
|
|
NM_002397.5(MEF2C):c.1339A>G (p.Ile447Val)
|
rs1756753374
|
|
|
NM_002397.5(MEF2C):c.1341T>C (p.Ile447=)
|
|
|
|
NM_002397.5(MEF2C):c.1353A>G (p.Arg451=)
|
|
|
|
NM_002397.5(MEF2C):c.1354C>A (p.Pro452Thr)
|
|
|
|
NM_002397.5(MEF2C):c.1359G>T (p.Ser453=)
|
rs1224709005
|
|
|
NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter)
|
|
|
|
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
|
|
|
|
NM_002397.5(MEF2C):c.1377T>C (p.Ser459=)
|
rs2152041593
|
|
|
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
|
NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter)
|
rs2152041454
|
|
|
NM_002397.5(MEF2C):c.1383A>T (p.Ser461=)
|
rs2152041410
|
|
|
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala)
|
rs1194300256
|
|
|
NM_002397.5(MEF2C):c.1396C>A (p.Arg466=)
|
|
|
|
NM_002397.5(MEF2C):c.1398A>G (p.Arg466=)
|
rs2152041098
|
|
|
NM_002397.5(MEF2C):c.1401T>G (p.Leu467=)
|
rs1291920482
|
|
|
NM_002397.5(MEF2C):c.168G>A (p.Gln56=)
|
|
|
|
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
|
rs2153074319
|
|
|
NM_002397.5(MEF2C):c.192dup (p.Val65fs)
|
rs1580988138
|
|
|
NM_002397.5(MEF2C):c.194T>C (p.Val65Ala)
|
rs1580988074
|
|
|
NM_002397.5(MEF2C):c.195G>T (p.Val65=)
|
rs1186763422
|
|
|
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)
|
rs1432291994
|
|
|
NM_002397.5(MEF2C):c.204G>A (p.Lys68=)
|
rs1580987960
|
|
|
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe)
|
rs2153074116
|
|
|
NM_002397.5(MEF2C):c.21G>T (p.Gln7His)
|
rs1554150584
|
|
|
NM_002397.5(MEF2C):c.225G>T (p.Pro75=)
|
rs779924552
|
|
|
NM_002397.5(MEF2C):c.235C>A (p.Arg79=)
|
rs1021588454
|
|
|
NM_002397.5(MEF2C):c.243C>T (p.Asn81=)
|
|
|
|
NM_002397.5(MEF2C):c.249C>T (p.Asp83=)
|
|
|
|
NM_002397.5(MEF2C):c.258+13_258+14delinsAT
|
rs2153073599
|
|
|
NM_002397.5(MEF2C):c.258+1G>A
|
rs1064797310
|
|
|
NM_002397.5(MEF2C):c.258+20G>A
|
|
|
|
NM_002397.5(MEF2C):c.258+2T>C
|
|
|
|
NM_002397.5(MEF2C):c.258+3G>A
|
|
|
|
NM_002397.5(MEF2C):c.259-16A>T
|
|
|
|
NM_002397.5(MEF2C):c.259-17C>T
|
|
|
|
NM_002397.5(MEF2C):c.259-19T>C
|
|
|
|
NM_002397.5(MEF2C):c.26C>T (p.Thr9Met)
|
rs2153222916
|
|
|
NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp)
|
rs1777743502
|
|
|
NM_002397.5(MEF2C):c.303C>G (p.Pro101=)
|
|
|
|
NM_002397.5(MEF2C):c.304G>C (p.Asp102His)
|
rs2152674244
|
|
|
NM_002397.5(MEF2C):c.306T>C (p.Asp102=)
|
|
|
|
NM_002397.5(MEF2C):c.30G>A (p.Arg10=)
|
rs2153222913
|
|
|
NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)
|
|
|
|
NM_002397.5(MEF2C):c.318C>T (p.Ser106=)
|
rs760986750
|
|
|
NM_002397.5(MEF2C):c.320T>C (p.Val107Ala)
|
|
|
|
NM_002397.5(MEF2C):c.345C>G (p.Asp115Glu)
|
|
|
|
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu)
|
rs1777713411
|
|
|
NM_002397.5(MEF2C):c.352A>C (p.Arg118=)
|
|
|
|
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu)
|
rs2152673396
|
|
|
NM_002397.5(MEF2C):c.387C>G (p.Ser129Arg)
|
rs2152673311
|
|
|
NM_002397.5(MEF2C):c.399G>T (p.Leu133Phe)
|
rs2152673081
|
|
|
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile)
|
rs1554150607
|
|
|
NM_002397.5(MEF2C):c.401_402+2del
|
rs1561875779
|
|
|
NM_002397.5(MEF2C):c.402+19del
|
|
|
|
NM_002397.5(MEF2C):c.402+8C>T
|
rs1777690728
|
|
|
NM_002397.5(MEF2C):c.402+9T>G
|
rs2152672913
|
|
|
NM_002397.5(MEF2C):c.403-14T>G
|
|
|
|
NM_002397.5(MEF2C):c.403-1G>A
|
|
|
|
NM_002397.5(MEF2C):c.403-8T>A
|
rs1581754208
|
|
|
NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)
|
|
|
|
NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
|
|
|
|
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
|
|
|
|
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
|
|
|
NM_002397.5(MEF2C):c.446T>C (p.Val149Ala)
|
rs1057349061
|
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
|
NM_002397.5(MEF2C):c.456C>T (p.His152=)
|
rs1554112204
|
|
|
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)
|
rs1554150552
|
|
|
NM_002397.5(MEF2C):c.461G>T (p.Ser154Ile)
|
|
|
|
NM_002397.5(MEF2C):c.463T>C (p.Leu155=)
|
rs927377195
|
|
|
NM_002397.5(MEF2C):c.468del (p.Tyr157fs)
|
|
|
|
NM_002397.5(MEF2C):c.471C>T (p.Tyr157=)
|
|
|
|
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser)
|
rs1772995609
|
|
|
NM_002397.5(MEF2C):c.490C>T (p.Leu164=)
|
rs1390261667
|
|
|
NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)
|
|
|
|
NM_002397.5(MEF2C):c.514C>T (p.Leu172=)
|
rs1772969049
|
|
|
NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)
|
|
|
|
NM_002397.5(MEF2C):c.51A>G (p.Arg17=)
|
|
|
|
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)
|
rs1554150543
|
|
|
NM_002397.5(MEF2C):c.522C>T (p.His174=)
|
|
|
|
NM_002397.5(MEF2C):c.534G>A (p.Gln178=)
|
|
|
|
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
|
|
|
|
NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)
|
|
|
|
NM_002397.5(MEF2C):c.54+11T>C
|
|
|
|
NM_002397.5(MEF2C):c.54+12A>C
|
|
|
|
NM_002397.5(MEF2C):c.54+13A>G
|
|
|
|
NM_002397.5(MEF2C):c.54+5G>A
|
|
|
|
NM_002397.5(MEF2C):c.54+6T>C
|
|
|
|
NM_002397.5(MEF2C):c.54+8G>T
|
rs2153222799
|
|
|
NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly)
|
|
|
|
NM_002397.5(MEF2C):c.55-14T>C
|
|
|
|
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala)
|
rs1561821810
|
|
|
NM_002397.5(MEF2C):c.559dup (p.Thr187fs)
|
rs2152524628
|
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
|
NM_002397.5(MEF2C):c.566G>A (p.Arg189Gln)
|
|
|
|
NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg)
|
rs1772929062
|
|
|
NM_002397.5(MEF2C):c.579A>G (p.Ala193=)
|
|
|
|
NM_002397.5(MEF2C):c.583A>G (p.Asn195Asp)
|
|
|
|
NM_002397.5(MEF2C):c.589+16G>T
|
|
|
|
NM_002397.5(MEF2C):c.589+6T>A
|
rs1370610061
|
|
|
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg)
|
rs1310323196
|
|
|
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala)
|
rs1554139870
|
|
|
NM_002397.5(MEF2C):c.590-15C>G
|
|
|
|
NM_002397.5(MEF2C):c.590-4A>G
|
|
|
|
NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser)
|
rs1029856807
|
|
|
NM_002397.5(MEF2C):c.595C>G (p.Leu199Val)
|
|
|
|
NM_002397.5(MEF2C):c.595C>T (p.Leu199=)
|
rs1472815211
|
|
|
NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile)
|
rs2153075088
|
|
|
NM_002397.5(MEF2C):c.611T>G (p.Leu204Arg)
|
rs2152497517
|
|
|
NM_002397.5(MEF2C):c.612C>G (p.Leu204=)
|
rs1771367792
|
|
|
NM_002397.5(MEF2C):c.614C>T (p.Thr205Met)
|
|
|
|
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs)
|
rs1554110298
|
|
|
NM_002397.5(MEF2C):c.626_627insTCTCCAC (p.Thr210fs)
|
rs2152497336
|
|
|
NM_002397.5(MEF2C):c.637+1G>C
|
rs2152497250
|
|
|
NM_002397.5(MEF2C):c.637+1G>T
|
|
|
|
NM_002397.5(MEF2C):c.637+9A>G
|
rs1581701842
|
|
|
NM_002397.5(MEF2C):c.638-11T>C
|
|
|
|
NM_002397.5(MEF2C):c.638-14T>C
|
|
|
|
NM_002397.5(MEF2C):c.638-14dup
|
rs754587449
|
|
|
NM_002397.5(MEF2C):c.638-15G>A
|
|
|
|
NM_002397.5(MEF2C):c.638-1G>A
|
rs2152281284
|
|
|
NM_002397.5(MEF2C):c.638-7T>C
|
|
|
|
NM_002397.5(MEF2C):c.638-9del
|
|
|
|
NM_002397.5(MEF2C):c.645G>A (p.Gly215=)
|
rs1406989584
|
|
|
NM_002397.5(MEF2C):c.651C>A (p.Gly217=)
|
rs929360766
|
|
|
NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr)
|
|
|
|
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu)
|
rs1761821562
|
|
|
NM_002397.5(MEF2C):c.657C>T (p.Pro219=)
|
rs1477294607
|
|
|
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
|
|
|
|
NM_002397.5(MEF2C):c.66A>G (p.Thr22=)
|
rs2153075042
|
|
|
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
|
|
|
|
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
|
|
|
|
NM_002397.5(MEF2C):c.690T>C (p.Gly230=)
|
rs1168200349
|
|
|
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val)
|
rs2152280607
|
|
|
NM_002397.5(MEF2C):c.699C>T (p.Asn233=)
|
rs2152280530
|
|
|
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
|
rs869312698
|
|
|
NM_002397.5(MEF2C):c.729A>G (p.Pro243=)
|
|
|
|
NM_002397.5(MEF2C):c.72G>A (p.Arg24=)
|
rs1057522729
|
|
|
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)
|
|
|
|
NM_002397.5(MEF2C):c.750C>T (p.Asn250=)
|
|
|
|
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys)
|
rs1761787183
|
|
|
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)
|
rs796052733
|
|
|
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln)
|
rs1761775496
|
|
|
NM_002397.5(MEF2C):c.768A>G (p.Arg256=)
|
rs2152279899
|
|
|
NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)
|
|
|
|
NM_002397.5(MEF2C):c.773T>A (p.Leu258His)
|
rs1268731100
|
|
|
NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)
|
|
|
|
NM_002397.5(MEF2C):c.780dup (p.Pro261fs)
|
rs1561697465
|
|
|
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile)
|
rs2152279598
|
|
|
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
|
|
|
|
NM_002397.5(MEF2C):c.810+13T>G
|
|
|
|
NM_002397.5(MEF2C):c.810+2T>C
|
|
|
|
NM_002397.5(MEF2C):c.811-14C>T
|
|
|
|
NM_002397.5(MEF2C):c.811-17C>T
|
|
|
|
NM_002397.5(MEF2C):c.811-5C>G
|
rs1760866808
|
|
|
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
|
|
|
|
NM_002397.5(MEF2C):c.834+13A>G
|
|
|
|
NM_002397.5(MEF2C):c.835-10_835-7del
|
rs1291357632
|
|
|
NM_002397.5(MEF2C):c.835-20C>A
|
|
|
|
NM_002397.5(MEF2C):c.855C>T (p.Ser285=)
|
|
|
|
NM_002397.5(MEF2C):c.864T>C (p.Ala288=)
|
rs2152224964
|
|
|
NM_002397.5(MEF2C):c.881del (p.Pro294fs)
|
|
|
|
NM_002397.5(MEF2C):c.891C>T (p.Ser297=)
|
rs755665375
|
|
|
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
|
|
|
|
NM_002397.5(MEF2C):c.900T>A (p.Thr300=)
|
|
|
|
NM_002397.5(MEF2C):c.908dup (p.Leu303fs)
|
rs1581338441
|
|
|
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)
|
|
|
|
NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu)
|
|
|
|
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
|
|
|
|
NM_002397.5(MEF2C):c.965-10T>G
|
|
|
|
NM_002397.5(MEF2C):c.965-15T>C
|
rs2152209795
|
|
|
NM_002397.5(MEF2C):c.965-19_965-17del
|
|
|
|
NM_002397.5(MEF2C):c.965-6A>C
|
rs2152209415
|
|
|
NM_002397.5(MEF2C):c.965-6_965-2del
|
rs1064795146
|
|
|
NM_002397.5(MEF2C):c.988C>T (p.Leu330=)
|
|
|
|
NM_002397.5(MEF2C):c.988del (p.Leu330fs)
|
rs1759964009
|
|
|
NM_002397.5(MEF2C):c.990G>T (p.Leu330=)
|
|
|
|
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)
|
|
|
|
NM_002397.5(MEF2C):c.999_1000del (p.Ser334fs)
|
|
|
|
NM_002397.5(MEF2C):c.99T>C (p.Tyr33=)
|
|
|
|
NM_014679.5(CEP57):c.1000A>G (p.Lys334Glu)
|
rs2135373567
|
|
|
NM_014679.5(CEP57):c.1003C>G (p.Gln335Glu)
|
|
|
|
NM_014679.5(CEP57):c.1011T>G (p.Ser337=)
|
|
|
|
NM_014679.5(CEP57):c.1020T>C (p.Gly340=)
|
rs1420610366
|
|
|
NM_014679.5(CEP57):c.1021G>A (p.Gly341Ser)
|
rs1862818339
|
|
|
NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr)
|
rs527528444
|
|
|
NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro)
|
rs759919170
|
|
|
NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe)
|
rs1555053893
|
|
|
NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser)
|
rs202115720
|
|
|
NM_014679.5(CEP57):c.1065T>C (p.Gly355=)
|
rs1555053912
|
|
|
NM_014679.5(CEP57):c.1068T>G (p.Ile356Met)
|
|
|
|
NM_014679.5(CEP57):c.1075G>A (p.Glu359Lys)
|
rs781248377
|
|
|
NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu)
|
rs1862823036
|
|
|
NM_014679.5(CEP57):c.1099T>A (p.Leu367Ile)
|
rs759922227
|
|
|
NM_014679.5(CEP57):c.1099T>C (p.Leu367=)
|
rs759922227
|
|
|
NM_014679.5(CEP57):c.1104G>A (p.Gln368=)
|
rs1590958462
|
|
|
NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter)
|
rs1565334264
|
|
|
NM_014679.5(CEP57):c.1127+11_1127+14del
|
rs1862827042
|
|
|
NM_014679.5(CEP57):c.1127+3G>A
|
rs2135374408
|
|
|
NM_014679.5(CEP57):c.1127+5G>A
|
|
|
|
NM_014679.5(CEP57):c.1128-16_1128-14del
|
|
|
|
NM_014679.5(CEP57):c.1128-17T>A
|
|
|
|
NM_014679.5(CEP57):c.1128-19A>G
|
|
|
|
NM_014679.5(CEP57):c.1128-4A>C
|
rs1862886218
|
|
|
NM_014679.5(CEP57):c.1128-4A>G
|
rs1862886218
|
|
|
NM_014679.5(CEP57):c.1128T>C (p.Phe376=)
|
|
|
|
NM_014679.5(CEP57):c.1137G>A (p.Gln379=)
|
rs2135378484
|
|
|
NM_014679.5(CEP57):c.1147A>G (p.Lys383Glu)
|
|
|
|
NM_014679.5(CEP57):c.1163C>T (p.Ser388Leu)
|
rs778871999
|
|
|
NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala)
|
|
|
|
NM_014679.5(CEP57):c.1165C>T (p.Pro389Ser)
|
rs1590960094
|
|
|
NM_014679.5(CEP57):c.1170C>T (p.Thr390=)
|
rs1262812878
|
|
|
NM_014679.5(CEP57):c.1179G>T (p.Leu393=)
|
|
|
|
NM_014679.5(CEP57):c.1187A>G (p.Lys396Arg)
|
rs2135378752
|
|
|
NM_014679.5(CEP57):c.11C>G (p.Ala4Gly)
|
rs563708574
|
|
|
NM_014679.5(CEP57):c.1201T>C (p.Leu401=)
|
|
|
|
NM_014679.5(CEP57):c.1206G>A (p.Glu402=)
|
|
|
|
NM_014679.5(CEP57):c.1208C>T (p.Ala403Val)
|
rs898167932
|
|
|
NM_014679.5(CEP57):c.1209A>C (p.Ala403=)
|
rs2135378884
|
|
|
NM_014679.5(CEP57):c.1212A>C (p.Leu404Phe)
|
rs1414836328
|
|
|
NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys)
|
rs1862894107
|
|
|
NM_014679.5(CEP57):c.1231A>G (p.Lys411Glu)
|
rs2135378928
|
|
|
NM_014679.5(CEP57):c.1234G>A (p.Ala412Thr)
|
|
|
|
NM_014679.5(CEP57):c.1236C>G (p.Ala412=)
|
|
|
|
NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter)
|
|
|
|
NM_014679.5(CEP57):c.1263C>A (p.Tyr421Ter)
|
|
|
|
NM_014679.5(CEP57):c.1267G>A (p.Ala423Thr)
|
|
|
|
NM_014679.5(CEP57):c.1272+10T>C
|
rs2135379159
|
|
|
NM_014679.5(CEP57):c.1272+12_1272+13del
|
|
|
|
NM_014679.5(CEP57):c.1272+13T>G
|
|
|
|
NM_014679.5(CEP57):c.1273-7G>A
|
rs1328841524
|
|
|
NM_014679.5(CEP57):c.1281_1295del (p.425LEKQK[1])
|
rs767882667
|
|
|
NM_014679.5(CEP57):c.1282C>G (p.Gln428Glu)
|
rs2135383836
|
|
|
NM_014679.5(CEP57):c.1286dup (p.Leu430fs)
|
rs1862984152
|
|
|
NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu)
|
rs550796220
|
|
|
NM_014679.5(CEP57):c.1296G>C (p.Lys432Asn)
|
|
|
|
NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del)
|
rs761197192
|
|
|
NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr)
|
|
|
|
NM_014679.5(CEP57):c.131C>T (p.Pro44Leu)
|
rs2135259624
|
|
|
NM_014679.5(CEP57):c.1323A>G (p.Lys441=)
|
|
|
|
NM_014679.5(CEP57):c.1325del (p.Lys442fs)
|
|
|
|
NM_014679.5(CEP57):c.1329T>G (p.Thr443=)
|
rs2135384084
|
|
|
NM_014679.5(CEP57):c.132T>C (p.Pro44=)
|
|
|
|
NM_014679.5(CEP57):c.1331T>C (p.Leu444Pro)
|
|
|
|
NM_014679.5(CEP57):c.1334A>G (p.Asp445Gly)
|
rs748485985
|
|
|
NM_014679.5(CEP57):c.1335T>C (p.Asp445=)
|
|
|
|
NM_014679.5(CEP57):c.1339G>A (p.Glu447Lys)
|
rs756553344
|
|
|
NM_014679.5(CEP57):c.1342_1362del (p.Arg448_Ser454del)
|
|
|
|
NM_014679.5(CEP57):c.1344A>G (p.Arg448=)
|
rs2135384164
|
|
|
NM_014679.5(CEP57):c.1347C>T (p.Asn449=)
|
|
|
|
NM_014679.5(CEP57):c.1357_1362del (p.Arg453_Ser454del)
|
|
|
|
NM_014679.5(CEP57):c.1358G>A (p.Arg453His)
|
|
|
|
NM_014679.5(CEP57):c.1363G>A (p.Gly455Arg)
|
|
|
|
NM_014679.5(CEP57):c.1364G>A (p.Gly455Glu)
|
rs1565336775
|
|
|
NM_014679.5(CEP57):c.1387A>G (p.Lys463Glu)
|
|
|
|
NM_014679.5(CEP57):c.138T>G (p.Leu46=)
|
rs2135259669
|
|
|
NM_014679.5(CEP57):c.1392T>C (p.Asp464=)
|
rs2135384405
|
|
|
NM_014679.5(CEP57):c.1396A>G (p.Met466Val)
|
|
|
|
NM_014679.5(CEP57):c.1404G>C (p.Leu468=)
|
rs2135384476
|
|
|
NM_014679.5(CEP57):c.1406G>A (p.Arg469Lys)
|
|
|
|
NM_014679.5(CEP57):c.1421_1430del (p.Arg474fs)
|
rs1477051347
|
|
|
NM_014679.5(CEP57):c.1430dup (p.Asn477fs)
|
|
|
|
NM_014679.5(CEP57):c.1433T>A (p.Leu478His)
|
rs1862992904
|
|
|
NM_014679.5(CEP57):c.144T>C (p.Ser48=)
|
rs952135399
|
|
|
NM_014679.5(CEP57):c.1450A>C (p.Met484Leu)
|
rs930693151
|
|
|
NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys)
|
rs1862993704
|
|
|
NM_014679.5(CEP57):c.1455A>G (p.Gln485=)
|
|
|
|
NM_014679.5(CEP57):c.1459A>G (p.Ile487Val)
|
|
|
|
NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg)
|
|
|
|
NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser)
|
rs1050934936
|
|
|
NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn)
|
rs753006983
|
|
|
NM_014679.5(CEP57):c.148C>A (p.Leu50Ile)
|
|
|
|
NM_014679.5(CEP57):c.148C>T (p.Leu50=)
|
|
|
|
NM_014679.5(CEP57):c.1491T>C (p.Cys497=)
|
|
|
|
NM_014679.5(CEP57):c.152G>T (p.Arg51Leu)
|
|
|
|
NM_014679.5(CEP57):c.15T>G (p.Ser5=)
|
rs1860990343
|
|
|
NM_014679.5(CEP57):c.163A>G (p.Ser55Gly)
|
|
|
|
NM_014679.5(CEP57):c.185C>T (p.Pro62Leu)
|
rs2135260052
|
|
|
NM_014679.5(CEP57):c.18C>G (p.Val6=)
|
|
|
|
NM_014679.5(CEP57):c.191G>A (p.Ser64Asn)
|
|
|
|
NM_014679.5(CEP57):c.195C>T (p.Asn65=)
|
|
|
|
NM_014679.5(CEP57):c.202+16G>A
|
|
|
|
NM_014679.5(CEP57):c.202+17A>C
|
|
|
|
NM_014679.5(CEP57):c.202+6C>T
|
rs1185295732
|
|
|
NM_014679.5(CEP57):c.203-15G>A
|
|
|
|
NM_014679.5(CEP57):c.205A>G (p.Ile69Val)
|
rs1862131344
|
|
|
NM_014679.5(CEP57):c.207A>G (p.Ile69Met)
|
|
|
|
NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)
|
|
|
|
NM_014679.5(CEP57):c.20_21del (p.Ser7fs)
|
|
|
|
NM_014679.5(CEP57):c.215C>T (p.Ala72Val)
|
|
|
|
NM_014679.5(CEP57):c.217C>T (p.Leu73Phe)
|
rs1862131809
|
|
|
NM_014679.5(CEP57):c.21T>C (p.Ser7=)
|
|
|
|
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)
|
rs387906977
|
|
|
NM_014679.5(CEP57):c.247T>C (p.Leu83=)
|
|
|
|
NM_014679.5(CEP57):c.249G>A (p.Leu83=)
|
|
|
|
NM_014679.5(CEP57):c.256G>C (p.Glu86Gln)
|
|
|
|
NM_014679.5(CEP57):c.263T>C (p.Ile88Thr)
|
rs1862134368
|
|
|
NM_014679.5(CEP57):c.274G>A (p.Glu92Lys)
|
|
|
|
NM_014679.5(CEP57):c.274G>C (p.Glu92Gln)
|
|
|
|
NM_014679.5(CEP57):c.292T>C (p.Ser98Pro)
|
rs1862135682
|
|
|
NM_014679.5(CEP57):c.297A>T (p.Arg99Ser)
|
|
|
|
NM_014679.5(CEP57):c.29C>T (p.Ser10Phe)
|
rs752283181
|
|
|
NM_014679.5(CEP57):c.305T>C (p.Ile102Thr)
|
|
|
|
NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer)
|
|
|
|
NM_014679.5(CEP57):c.32G>T (p.Gly11Val)
|
rs2135220118
|
|
|
NM_014679.5(CEP57):c.335T>A (p.Ile112Lys)
|
rs1296533991
|
|
|
NM_014679.5(CEP57):c.33T>G (p.Gly11=)
|
|
|
|
NM_014679.5(CEP57):c.341A>G (p.Glu114Gly)
|
|
|
|
NM_014679.5(CEP57):c.341A>T (p.Glu114Val)
|
|
|
|
NM_014679.5(CEP57):c.347A>G (p.Glu116Gly)
|
rs2135318947
|
|
|
NM_014679.5(CEP57):c.35C>T (p.Ser12Phe)
|
|
|
|
NM_014679.5(CEP57):c.365A>C (p.Glu122Ala)
|
rs758749076
|
|
|
NM_014679.5(CEP57):c.378T>A (p.Asn126Lys)
|
rs1233148579
|
|
|
NM_014679.5(CEP57):c.381A>C (p.Gln127His)
|
|
|
|
NM_014679.5(CEP57):c.382+10_382+12del
|
rs750802143
|
|
|
NM_014679.5(CEP57):c.382+14G>T
|
|
|
|
NM_014679.5(CEP57):c.382+6T>C
|
|
|
|
NM_014679.5(CEP57):c.382+9del
|
|
|
|
NM_014679.5(CEP57):c.383-10T>C
|
|
|
|
NM_014679.5(CEP57):c.383-15A>G
|
|
|
|
NM_014679.5(CEP57):c.391T>A (p.Ser131Thr)
|
|
|
|
NM_014679.5(CEP57):c.39C>G (p.His13Gln)
|
rs531068389
|
|
|
NM_014679.5(CEP57):c.402A>C (p.Leu134Phe)
|
|
|
|
NM_014679.5(CEP57):c.413A>G (p.Asn138Ser)
|
|
|
|
NM_014679.5(CEP57):c.417A>G (p.Lys139=)
|
rs1248749562
|
|
|
NM_014679.5(CEP57):c.421A>C (p.Asn141His)
|
|
|
|
NM_014679.5(CEP57):c.422A>T (p.Asn141Ile)
|
|
|
|
NM_014679.5(CEP57):c.424C>A (p.Leu142Ile)
|
|
|
|
NM_014679.5(CEP57):c.42G>A (p.Leu14=)
|
|
|
|
NM_014679.5(CEP57):c.438A>G (p.Gln146=)
|
|
|
|
NM_014679.5(CEP57):c.448A>T (p.Met150Leu)
|
rs1392775846
|
|
|
NM_014679.5(CEP57):c.44C>T (p.Ser15Leu)
|
|
|
|
NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG
|
|
|
|
NM_014679.5(CEP57):c.45+16C>T
|
rs374203661
|
|
|
NM_014679.5(CEP57):c.45+17G>A
|
|
|
|
NM_014679.5(CEP57):c.45+17G>C
|
|
|
|
NM_014679.5(CEP57):c.451C>A (p.Arg151=)
|
rs771182933
|
|
|
NM_014679.5(CEP57):c.46-10dup
|
|
|
|
NM_014679.5(CEP57):c.46-11T>C
|
rs1298510341
|
|
|
NM_014679.5(CEP57):c.46-2A>T
|
|
|
|
NM_014679.5(CEP57):c.46-9A>C
|
rs780066541
|
|
|
NM_014679.5(CEP57):c.461T>C (p.Ile154Thr)
|
rs889087291
|
|
|
NM_014679.5(CEP57):c.486A>G (p.Thr162=)
|
rs2135321587
|
|
|
NM_014679.5(CEP57):c.487T>C (p.Ser163Pro)
|
|
|
|
NM_014679.5(CEP57):c.48C>A (p.Asn16Lys)
|
|
|
|
NM_014679.5(CEP57):c.499A>G (p.Lys167Glu)
|
|
|
|
NM_014679.5(CEP57):c.4G>A (p.Ala2Thr)
|
rs878854985
|
|
|
NM_014679.5(CEP57):c.502C>A (p.Gln168Lys)
|
rs1241266950
|
|
|
NM_014679.5(CEP57):c.503A>T (p.Gln168Leu)
|
rs1433730979
|
|
|
NM_014679.5(CEP57):c.504+19A>C
|
rs777827395
|
|
|
NM_014679.5(CEP57):c.504+3A>G
|
|
|
|
NM_014679.5(CEP57):c.504+4A>G
|
|
|
|
NM_014679.5(CEP57):c.504+5G>A
|
rs1252981393
|
|
|
NM_014679.5(CEP57):c.504+6T>G
|
|
|
|
NM_014679.5(CEP57):c.505-9_505-6del
|
rs1565326346
|
|
|
NM_014679.5(CEP57):c.505G>A (p.Val169Ile)
|
|
|
|
NM_014679.5(CEP57):c.50G>C (p.Ser17Thr)
|
rs1565311619
|
|
|
NM_014679.5(CEP57):c.515A>G (p.Glu172Gly)
|
rs2135337872
|
|
|
NM_014679.5(CEP57):c.516A>G (p.Glu172=)
|
rs772095352
|
|
|
NM_014679.5(CEP57):c.520G>C (p.Glu174Gln)
|
rs1060501986
|
|
|
NM_014679.5(CEP57):c.523C>T (p.Arg175Ter)
|
rs775752088
|
|
|
NM_014679.5(CEP57):c.526C>G (p.Gln176Glu)
|
|
|
|
NM_014679.5(CEP57):c.542A>G (p.His181Arg)
|
rs1862363329
|
|
|
NM_014679.5(CEP57):c.544G>A (p.Val182Ile)
|
rs2135338078
|
|
|
NM_014679.5(CEP57):c.545T>A (p.Val182Asp)
|
|
|
|
NM_014679.5(CEP57):c.552C>A (p.Ser184Arg)
|
rs765801435
|
|
|
NM_014679.5(CEP57):c.552C>T (p.Ser184=)
|
rs765801435
|
|
|
NM_014679.5(CEP57):c.555A>G (p.Gln185=)
|
rs773682444
|
|
|
NM_014679.5(CEP57):c.559G>A (p.Glu187Lys)
|
rs1862364446
|
|
|
NM_014679.5(CEP57):c.568G>A (p.Asp190Asn)
|
|
|
|
NM_014679.5(CEP57):c.56C>G (p.Ala19Gly)
|
|
|
|
NM_014679.5(CEP57):c.575T>C (p.Leu192Pro)
|
rs1862365071
|
|
|
NM_014679.5(CEP57):c.57T>A (p.Ala19=)
|
|
|
|
NM_014679.5(CEP57):c.599C>A (p.Thr200Asn)
|
rs757212650
|
|
|
NM_014679.5(CEP57):c.599C>T (p.Thr200Ile)
|
|
|
|
NM_014679.5(CEP57):c.601A>G (p.Thr201Ala)
|
rs2135338342
|
|
|
NM_014679.5(CEP57):c.605T>A (p.Met202Lys)
|
|
|
|
NM_014679.5(CEP57):c.61C>T (p.Pro21Ser)
|
|
|
|
NM_014679.5(CEP57):c.621+13G>A
|
|
|
|
NM_014679.5(CEP57):c.621+8C>T
|
|
|
|
NM_014679.5(CEP57):c.621+9A>G
|
rs1472625294
|
|
|
NM_014679.5(CEP57):c.622-12T>C
|
|
|
|
NM_014679.5(CEP57):c.622-2A>G
|
|
|
|
NM_014679.5(CEP57):c.622-9dup
|
rs745634452
|
|
|
NM_014679.5(CEP57):c.626A>C (p.Lys209Thr)
|
rs1862408972
|
|
|
NM_014679.5(CEP57):c.628A>T (p.Met210Leu)
|
rs374700509
|
|
|
NM_014679.5(CEP57):c.63A>G (p.Pro21=)
|
rs1861471358
|
|
|
NM_014679.5(CEP57):c.645A>G (p.Ala215=)
|
rs2135342060
|
|
|
NM_014679.5(CEP57):c.652C>T (p.His218Tyr)
|
|
|
|
NM_014679.5(CEP57):c.654T>C (p.His218=)
|
|
|
|
NM_014679.5(CEP57):c.657A>G (p.Glu219=)
|
rs142615007
|
|
|
NM_014679.5(CEP57):c.65C>T (p.Ser22Leu)
|
rs554897859
|
|
|
NM_014679.5(CEP57):c.666G>A (p.Gln222=)
|
|
|
|
NM_014679.5(CEP57):c.680T>C (p.Met227Thr)
|
rs1338577560
|
|
|
NM_014679.5(CEP57):c.684A>C (p.Gln228His)
|
rs2135342248
|
|
|
NM_014679.5(CEP57):c.698A>T (p.Glu233Val)
|
|
|
|
NM_014679.5(CEP57):c.699+1G>T
|
|
|
|
NM_014679.5(CEP57):c.699+7T>C
|
|
|
|
NM_014679.5(CEP57):c.69G>T (p.Arg23Ser)
|
|
|
|
NM_014679.5(CEP57):c.700-19A>C
|
|
|
|
NM_014679.5(CEP57):c.700-4C>T
|
rs2135351739
|
|
|
NM_014679.5(CEP57):c.704A>G (p.Gln235Arg)
|
rs2135351781
|
|
|
NM_014679.5(CEP57):c.707C>A (p.Thr236Asn)
|
|
|
|
NM_014679.5(CEP57):c.711T>A (p.Gly237=)
|
rs2135351805
|
|
|
NM_014679.5(CEP57):c.718A>G (p.Thr240Ala)
|
|
|
|
NM_014679.5(CEP57):c.723T>C (p.Asn241=)
|
rs76411609
|
|
|
NM_014679.5(CEP57):c.723T>G (p.Asn241Lys)
|
rs76411609
|
|
|
NM_014679.5(CEP57):c.729T>C (p.Leu243=)
|
|
|
|
NM_014679.5(CEP57):c.742A>G (p.Lys248Glu)
|
rs2135352017
|
|
|
NM_014679.5(CEP57):c.746C>T (p.Ala249Val)
|
rs1862532841
|
|
|
NM_014679.5(CEP57):c.753G>C (p.Pro251=)
|
rs11742
|
|
|
NM_014679.5(CEP57):c.755G>T (p.Cys252Phe)
|
|
|
|
NM_014679.5(CEP57):c.75T>C (p.Asn25=)
|
rs770013483
|
|
|
NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr)
|
|
|
|
NM_014679.5(CEP57):c.767C>T (p.Ala256Val)
|
rs2135352101
|
|
|
NM_014679.5(CEP57):c.772A>C (p.Arg258=)
|
|
|
|
NM_014679.5(CEP57):c.778A>T (p.Lys260Ter)
|
rs773014425
|
|
|
NM_014679.5(CEP57):c.781A>G (p.Lys261Glu)
|
|
|
|
NM_014679.5(CEP57):c.784A>C (p.Lys262Gln)
|
|
|
|
NM_014679.5(CEP57):c.787A>C (p.Lys263Gln)
|
rs1555052344
|
|
|
NM_014679.5(CEP57):c.798A>T (p.Pro266=)
|
|
|
|
NM_014679.5(CEP57):c.807+16C>A
|
|
|
|
NM_014679.5(CEP57):c.808-11_808-7del
|
|
|
|
NM_014679.5(CEP57):c.812G>C (p.Ser271Thr)
|
|
|
|
NM_014679.5(CEP57):c.81C>A (p.Ser27Arg)
|
|
|
|
NM_014679.5(CEP57):c.821A>G (p.Asn274Ser)
|
rs2135354357
|
|
|
NM_014679.5(CEP57):c.832G>A (p.Ala278Thr)
|
|
|
|
NM_014679.5(CEP57):c.833C>T (p.Ala278Val)
|
rs1862559102
|
|
|
NM_014679.5(CEP57):c.836_838del (p.Gln279del)
|
rs1379170788
|
|
|
NM_014679.5(CEP57):c.841C>T (p.His281Tyr)
|
rs1862559486
|
|
|
NM_014679.5(CEP57):c.846T>C (p.Tyr282=)
|
rs775590763
|
|
|
NM_014679.5(CEP57):c.858G>T (p.Leu286Phe)
|
rs1308139720
|
|
|
NM_014679.5(CEP57):c.862G>A (p.Asp288Asn)
|
|
|
|
NM_014679.5(CEP57):c.866T>C (p.Met289Thr)
|
|
|
|
NM_014679.5(CEP57):c.86T>G (p.Val29Gly)
|
|
|
|
NM_014679.5(CEP57):c.880G>A (p.Gly294Arg)
|
rs2135354636
|
|
|
NM_014679.5(CEP57):c.886-7C>T
|
|
|
|
NM_014679.5(CEP57):c.88C>A (p.Arg30=)
|
rs749693319
|
|
|
NM_014679.5(CEP57):c.88C>T (p.Arg30Trp)
|
rs749693319
|
|
|
NM_014679.5(CEP57):c.896C>A (p.Pro299His)
|
rs776778777
|
|
|
NM_014679.5(CEP57):c.8C>T (p.Ala3Val)
|
rs1351785176
|
|
|
NM_014679.5(CEP57):c.905C>A (p.Ala302Asp)
|
|
|
|
NM_014679.5(CEP57):c.908T>C (p.Val303Ala)
|
|
|
|
NM_014679.5(CEP57):c.909G>A (p.Val303=)
|
rs1862809034
|
|
|
NM_014679.5(CEP57):c.90G>C (p.Arg30=)
|
rs560835162
|
|
|
NM_014679.5(CEP57):c.911T>C (p.Val304Ala)
|
|
|
|
NM_014679.5(CEP57):c.915C>G (p.Ala305=)
|
|
|
|
NM_014679.5(CEP57):c.915C>T (p.Ala305=)
|
|
|
|
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)
|
rs1166323407
|
|
|
NM_014679.5(CEP57):c.918T>C (p.Asn306=)
|
rs984460249
|
|
|
NM_014679.5(CEP57):c.923A>G (p.Gln308Arg)
|
rs2135373107
|
|
|
NM_014679.5(CEP57):c.952A>G (p.Ser318Gly)
|
|
|
|
NM_014679.5(CEP57):c.974G>A (p.Arg325Gln)
|
rs1047306549
|
|
|
NM_014679.5(CEP57):c.974G>C (p.Arg325Pro)
|
|
|
|
NM_014679.5(CEP57):c.983A>G (p.Asn328Ser)
|
|
|
|
NM_014679.5(CEP57):c.998C>T (p.Ala333Val)
|
|
|
|
NM_022455.5(NSD1):c.1064-10C>T
|
rs1057523596
|
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
|
NM_022455.5(NSD1):c.1064-6A>T
|
|
|
|
NM_022455.5(NSD1):c.1064-9C>T
|
|
|
|
NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala)
|
|
|
|
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg)
|
rs1762711811
|
|
|
NM_022455.5(NSD1):c.1159G>C (p.Glu387Gln)
|
rs1374361789
|
|
|
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val)
|
rs2149836269
|
|
|
NM_022455.5(NSD1):c.1171C>G (p.Gln391Glu)
|
|
|
|
NM_022455.5(NSD1):c.1236+17G>A
|
rs886038671
|
|
|
NM_022455.5(NSD1):c.1236+9C>T
|
|
|
|
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
|
rs1763175962
|
|
|
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu)
|
rs367809750
|
|
|
NM_022455.5(NSD1):c.1299del (p.Lys435fs)
|
|
|
|
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)
|
rs1270264665
|
|
|
NM_022455.5(NSD1):c.1325G>C (p.Cys442Ser)
|
|
|
|
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg)
|
rs757392008
|
|
|
NM_022455.5(NSD1):c.1338A>T (p.Ser446=)
|
rs2149842674
|
|
|
NM_022455.5(NSD1):c.1363A>G (p.Met455Val)
|
rs546116718
|
|
|
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu)
|
rs775730406
|
|
|
NM_022455.5(NSD1):c.1395G>A (p.Glu465=)
|
|
|
|
NM_022455.5(NSD1):c.1407C>A (p.Asp469Glu)
|
|
|
|
NM_022455.5(NSD1):c.1410G>A (p.Leu470=)
|
|
|
|
NM_022455.5(NSD1):c.1414C>T (p.Leu472Phe)
|
rs371775975
|
|
|
NM_022455.5(NSD1):c.141T>C (p.Thr47=)
|
|
|
|
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)
|
rs1336273625
|
|
|
NM_022455.5(NSD1):c.1467G>C (p.Glu489Asp)
|
|
|
|
NM_022455.5(NSD1):c.1483G>A (p.Ala495Thr)
|
rs752490855
|
|
|
NM_022455.5(NSD1):c.1487A>G (p.Lys496Arg)
|
|
|
|
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)
|
rs1581315609
|
|
|
NM_022455.5(NSD1):c.151T>C (p.Ser51Pro)
|
|
|
|
NM_022455.5(NSD1):c.1606A>C (p.Asn536His)
|
rs1554188985
|
|
|
NM_022455.5(NSD1):c.1607A>G (p.Asn536Ser)
|
|
|
|
NM_022455.5(NSD1):c.1634C>T (p.Thr545Met)
|
|
|
|
NM_022455.5(NSD1):c.1654del (p.Ser552fs)
|
rs1060501497
|
|
|
NM_022455.5(NSD1):c.1664C>T (p.Ala555Val)
|
rs925398929
|
|
|
NM_022455.5(NSD1):c.1687A>C (p.Thr563Pro)
|
rs1763212012
|
|
|
NM_022455.5(NSD1):c.1699A>G (p.Ser567Gly)
|
|
|
|
NM_022455.5(NSD1):c.1729A>T (p.Thr577Ser)
|
rs370153971
|
|
|
NM_022455.5(NSD1):c.1760del (p.Gly587fs)
|
rs1581316964
|
|
|
NM_022455.5(NSD1):c.1783G>A (p.Glu595Lys)
|
|
|
|
NM_022455.5(NSD1):c.1786G>C (p.Gly596Arg)
|
|
|
|
NM_022455.5(NSD1):c.1800A>C (p.Ser600=)
|
rs2149843727
|
|
|
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
|
rs587784076
|
|
|
NM_022455.5(NSD1):c.1811G>A (p.Arg604Gln)
|
rs61744451
|
|
|
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu)
|
rs61744451
|
|
|
NM_022455.5(NSD1):c.1812A>T (p.Arg604=)
|
|
|
|
NM_022455.5(NSD1):c.1813G>C (p.Glu605Gln)
|
rs971996804
|
|
|
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)
|
|
|
|
NM_022455.5(NSD1):c.1820A>G (p.Asn607Ser)
|
rs1265667423
|
|
|
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)
|
rs1763225156
|
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
|
NM_022455.5(NSD1):c.1839G>A (p.Leu613=)
|
|
|
|
NM_022455.5(NSD1):c.1871T>C (p.Ile624Thr)
|
|
|
|
NM_022455.5(NSD1):c.1874G>A (p.Gly625Glu)
|
|
|
|
NM_022455.5(NSD1):c.1879G>A (p.Gly627Ser)
|
rs1449506408
|
|
|
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)
|
rs1481136060
|
|
|
NM_022455.5(NSD1):c.1895G>A (p.Arg632Gln)
|
|
|
|
NM_022455.5(NSD1):c.1906A>G (p.Ile636Val)
|
rs1410310481
|
|
|
NM_022455.5(NSD1):c.1925C>T (p.Ser642Phe)
|
|
|
|
NM_022455.5(NSD1):c.1981del (p.Ser661fs)
|
|
|
|
NM_022455.5(NSD1):c.199T>A (p.Ser67Thr)
|
|
|
|
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn)
|
rs1554189230
|
|
|
NM_022455.5(NSD1):c.2025G>A (p.Met675Ile)
|
|
|
|
NM_022455.5(NSD1):c.2026T>C (p.Leu676=)
|
|
|
|
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
|
rs587784080
|
|
|
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs)
|
rs2149844461
|
|
|
NM_022455.5(NSD1):c.2073C>T (p.Ala691=)
|
rs1054023528
|
|
|
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly)
|
rs1581318727
|
|
|
NM_022455.5(NSD1):c.2091A>G (p.Lys697=)
|
|
|
|
NM_022455.5(NSD1):c.2097dup (p.Gln700fs)
|
rs1763249718
|
|
|
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
|
|
|
|
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs)
|
rs2149844773
|
|
|
NM_022455.5(NSD1):c.2175G>A (p.Thr725=)
|
|
|
|
NM_022455.5(NSD1):c.2175_2176inv (p.Ser726Pro)
|
|
|
|
NM_022455.5(NSD1):c.2181G>C (p.Gln727His)
|
|
|
|
NM_022455.5(NSD1):c.2194G>A (p.Asp732Asn)
|
|
|
|
NM_022455.5(NSD1):c.2215_2217del (p.Val739del)
|
rs1763260903
|
|
|
NM_022455.5(NSD1):c.2231C>T (p.Ser744Leu)
|
rs1581319591
|
|
|
NM_022455.5(NSD1):c.2240C>T (p.Thr747Ile)
|
|
|
|
NM_022455.5(NSD1):c.2241A>G (p.Thr747=)
|
|
|
|
NM_022455.5(NSD1):c.2249C>T (p.Ala750Val)
|
|
|
|
NM_022455.5(NSD1):c.2250T>A (p.Ala750=)
|
|
|
|
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs)
|
rs1581319715
|
|
|
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr)
|
rs1763266375
|
|
|
NM_022455.5(NSD1):c.2290G>C (p.Glu764Gln)
|
|
|
|
NM_022455.5(NSD1):c.2300TAA[1] (p.Ile768del)
|
|
|
|
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)
|
rs1554189490
|
|
|
NM_022455.5(NSD1):c.2334A>G (p.Leu778=)
|
|
|
|
NM_022455.5(NSD1):c.2334dup (p.His779fs)
|
rs1554189512
|
|
|
NM_022455.5(NSD1):c.2352_2353delinsAA (p.Pro785Thr)
|
rs1763273634
|
|
|
NM_022455.5(NSD1):c.2362C>G (p.Arg788Gly)
|
|
|
|
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
|
rs1057520339
|
|
|
NM_022455.5(NSD1):c.2376C>T (p.Cys792=)
|
rs368839996
|
|
|
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
|
rs587784086
|
|
|
NM_022455.5(NSD1):c.2387A>C (p.Glu796Ala)
|
|
|
|
NM_022455.5(NSD1):c.2401G>A (p.Ala801Thr)
|
|
|
|
NM_022455.5(NSD1):c.2416A>G (p.Ile806Val)
|
rs1562208925
|
|
|
NM_022455.5(NSD1):c.2417T>C (p.Ile806Thr)
|
|
|
|
NM_022455.5(NSD1):c.2425dup (p.Glu809fs)
|
|
|
|
NM_022455.5(NSD1):c.2429G>T (p.Cys810Phe)
|
rs1763281290
|
|
|
NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs)
|
|
|
|
NM_022455.5(NSD1):c.252A>G (p.Val84=)
|
|
|
|
NM_022455.5(NSD1):c.2560A>G (p.Thr854Ala)
|
|
|
|
NM_022455.5(NSD1):c.2564C>T (p.Ala855Val)
|
rs2149845759
|
|
|
NM_022455.5(NSD1):c.2565A>G (p.Ala855=)
|
|
|
|
NM_022455.5(NSD1):c.2605dup (p.Tyr869fs)
|
rs2149845831
|
|
|
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs)
|
rs1060501490
|
|
|
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)
|
rs2149845949
|
|
|
NM_022455.5(NSD1):c.2652A>G (p.Pro884=)
|
rs1060504243
|
|
|
NM_022455.5(NSD1):c.2669T>A (p.Phe890Tyr)
|
|
|
|
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)
|
rs1131691754
|
|
|
NM_022455.5(NSD1):c.2674del (p.Ser892fs)
|
rs2149846018
|
|
|
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe)
|
|
|
|
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp)
|
rs886038674
|
|
|
NM_022455.5(NSD1):c.2805T>C (p.Ser935=)
|
|
|
|
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
|
rs2149846283
|
|
|
NM_022455.5(NSD1):c.2853A>C (p.Gly951=)
|
|
|
|
NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr)
|
|
|
|
NM_022455.5(NSD1):c.2912G>A (p.Gly971Asp)
|
rs371226812
|
|
|
NM_022455.5(NSD1):c.2914A>G (p.Thr972Ala)
|
|
|
|
NM_022455.5(NSD1):c.2930A>G (p.Asn977Ser)
|
|
|
|
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp)
|
rs587784091
|
|
|
NM_022455.5(NSD1):c.2970G>T (p.Glu990Asp)
|
|
|
|
NM_022455.5(NSD1):c.2976T>A (p.Ser992=)
|
|
|
|
NM_022455.5(NSD1):c.29G>A (p.Arg10Lys)
|
rs1581089074
|
|
|
NM_022455.5(NSD1):c.3002A>G (p.Asp1001Gly)
|
|
|
|
NM_022455.5(NSD1):c.3029A>G (p.Lys1010Arg)
|
|
|
|
NM_022455.5(NSD1):c.3031del (p.Ser1011fs)
|
rs2149846959
|
|
|
NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)
|
|
|
|
NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)
|
|
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
|
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
|
|
|
|
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
|
rs587784096
|
|
|
NM_022455.5(NSD1):c.3114G>T (p.Met1038Ile)
|
rs1581324163
|
|
|
NM_022455.5(NSD1):c.3145_3146dup (p.Thr1050fs)
|
rs797045810
|
|
|
NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)
|
|
|
|
NM_022455.5(NSD1):c.3155G>A (p.Arg1052His)
|
|
|
|
NM_022455.5(NSD1):c.3169A>T (p.Asn1057Tyr)
|
|
|
|
NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys)
|
|
|
|
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
|
rs587784098
|
|
|
NM_022455.5(NSD1):c.3226G>A (p.Gly1076Ser)
|
|
|
|
NM_022455.5(NSD1):c.3238G>A (p.Gly1080Ser)
|
|
|
|
NM_022455.5(NSD1):c.3254del (p.Pro1085fs)
|
rs2149847798
|
|
|
NM_022455.5(NSD1):c.3275A>G (p.Gln1092Arg)
|
|
|
|
NM_022455.5(NSD1):c.3309C>G (p.Asp1103Glu)
|
|
|
|
NM_022455.5(NSD1):c.3321T>C (p.Asp1107=)
|
|
|
|
NM_022455.5(NSD1):c.3331G>T (p.Asp1111Tyr)
|
rs151165525
|
|
|
NM_022455.5(NSD1):c.3335G>A (p.Ser1112Asn)
|
|
|
|
NM_022455.5(NSD1):c.3344A>G (p.Lys1115Arg)
|
|
|
|
NM_022455.5(NSD1):c.3348A>G (p.Gln1116=)
|
|
|
|
NM_022455.5(NSD1):c.334G>T (p.Val112Phe)
|
rs1756231832
|
|
|
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe)
|
rs559441081
|
|
|
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)
|
rs587784101
|
|
|
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer)
|
rs1554190214
|
|
|
NM_022455.5(NSD1):c.3409C>T (p.Leu1137=)
|
|
|
|
NM_022455.5(NSD1):c.340A>C (p.Thr114Pro)
|
rs749444972
|
|
|
NM_022455.5(NSD1):c.3422del (p.Met1141fs)
|
rs1554190247
|
|
|
NM_022455.5(NSD1):c.3425A>G (p.Asn1142Ser)
|
|
|
|
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
|
|
|
|
NM_022455.5(NSD1):c.3473A>G (p.Lys1158Arg)
|
|
|
|
NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys)
|
|
|
|
NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter)
|
rs1562213291
|
|
|
NM_022455.5(NSD1):c.3525C>G (p.Asn1175Lys)
|
|
|
|
NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)
|
|
|
|
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs)
|
rs878855075
|
|
|
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)
|
rs797045813
|
|
|
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile)
|
rs797044760
|
|
|
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs)
|
rs1562213553
|
|
|
NM_022455.5(NSD1):c.3598C>T (p.Arg1200Trp)
|
|
|
|
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met)
|
rs1425698482
|
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
|
NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)
|
|
|
|
NM_022455.5(NSD1):c.3682G>C (p.Asp1228His)
|
rs1161564727
|
|
|
NM_022455.5(NSD1):c.3687del (p.Ala1230fs)
|
rs2149849204
|
|
|
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter)
|
rs2149849285
|
|
|
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val)
|
rs1581327291
|
|
|
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=)
|
rs794727734
|
|
|
NM_022455.5(NSD1):c.3771A>G (p.Thr1257=)
|
|
|
|
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs)
|
rs1763397145
|
|
|
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn)
|
|
|
|
NM_022455.5(NSD1):c.3819C>T (p.Arg1273=)
|
|
|
|
NM_022455.5(NSD1):c.3837G>T (p.Lys1279Asn)
|
|
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
|
NM_022455.5(NSD1):c.3868del (p.Gln1290fs)
|
rs1554195302
|
|
|
NM_022455.5(NSD1):c.3869A>C (p.Gln1290Pro)
|
rs1562242250
|
|
|
NM_022455.5(NSD1):c.3921+18A>G
|
|
|
|
NM_022455.5(NSD1):c.3949C>G (p.Leu1317Val)
|
|
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
|
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
|
rs587784107
|
|
|
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)
|
rs750684515
|
|
|
NM_022455.5(NSD1):c.3966A>C (p.Arg1322=)
|
|
|
|
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs)
|
rs1554195840
|
|
|
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter)
|
rs2149887293
|
|
|
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly)
|
rs587784108
|
|
|
NM_022455.5(NSD1):c.3994G>C (p.Glu1332Gln)
|
|
|
|
NM_022455.5(NSD1):c.405C>T (p.Ser135=)
|
|
|
|
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)
|
rs587784110
|
|
|
NM_022455.5(NSD1):c.4091G>T (p.Gly1364Val)
|
rs1554195876
|
|
|
NM_022455.5(NSD1):c.4107G>A (p.Pro1369=)
|
|
|
|
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)
|
rs1581408152
|
|
|
NM_022455.5(NSD1):c.4118T>C (p.Leu1373Ser)
|
rs1554195885
|
|
|
NM_022455.5(NSD1):c.4124del (p.Val1375fs)
|
rs1765618844
|
|
|
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
|
|
|
|
NM_022455.5(NSD1):c.4193-17A>G
|
|
|
|
NM_022455.5(NSD1):c.4193-8C>T
|
|
|
|
NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
|
rs1765712615
|
|
|
NM_022455.5(NSD1):c.4257C>A (p.Asp1419Glu)
|
|
|
|
NM_022455.5(NSD1):c.4259C>G (p.Pro1420Arg)
|
|
|
|
NM_022455.5(NSD1):c.4273A>C (p.Lys1425Gln)
|
|
|
|
NM_022455.5(NSD1):c.4301A>G (p.Lys1434Arg)
|
|
|
|
NM_022455.5(NSD1):c.4303-3T>G
|
|
|
|
NM_022455.5(NSD1):c.4303-8A>G
|
|
|
|
NM_022455.5(NSD1):c.4306T>C (p.Tyr1436His)
|
rs1435199225
|
|
|
NM_022455.5(NSD1):c.4308T>C (p.Tyr1436=)
|
|
|
|
NM_022455.5(NSD1):c.4378+15_4378+16del
|
rs2149894868
|
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
|
NM_022455.5(NSD1):c.4379-2A>G
|
rs1581429903
|
|
|
NM_022455.5(NSD1):c.4398C>G (p.Asp1466Glu)
|
|
|
|
NM_022455.5(NSD1):c.4403C>T (p.Pro1468Leu)
|
|
|
|
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)
|
rs570278338
|
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
|
NM_022455.5(NSD1):c.4428T>A (p.His1476Gln)
|
rs1581430053
|
|
|
NM_022455.5(NSD1):c.4458G>A (p.Val1486=)
|
|
|
|
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=)
|
rs150920473
|
|
|
NM_022455.5(NSD1):c.4498-10del
|
rs200890017
|
|
|
NM_022455.5(NSD1):c.4514dup (p.His1505fs)
|
rs2149899468
|
|
|
NM_022455.5(NSD1):c.451C>T (p.Leu151=)
|
|
|
|
NM_022455.5(NSD1):c.4521_4522delinsTT (p.Ala1508Ser)
|
rs1766449552
|
|
|
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp)
|
rs1766450095
|
|
|
NM_022455.5(NSD1):c.4528A>G (p.Ser1510Gly)
|
|
|
|
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln)
|
rs2149899575
|
|
|
NM_022455.5(NSD1):c.4552G>A (p.Gly1518Ser)
|
|
|
|
NM_022455.5(NSD1):c.4561C>A (p.His1521Asn)
|
rs1401885898
|
|
|
NM_022455.5(NSD1):c.4563C>T (p.His1521=)
|
|
|
|
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn)
|
rs201483724
|
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
|
NM_022455.5(NSD1):c.4569del (p.Met1525fs)
|
rs2149899647
|
|
|
NM_022455.5(NSD1):c.4574T>C (p.Met1525Thr)
|
rs1060501491
|
|
|
NM_022455.5(NSD1):c.4583C>T (p.Ser1528Phe)
|
rs1581433960
|
|
|
NM_022455.5(NSD1):c.4591A>G (p.Met1531Val)
|
|
|
|
NM_022455.5(NSD1):c.4604G>A (p.Arg1535His)
|
|
|
|
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly)
|
rs1562259810
|
|
|
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter)
|
rs2149904394
|
|
|
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs)
|
rs2149904428
|
|
|
NM_022455.5(NSD1):c.4702del (p.Leu1568fs)
|
rs1755987983
|
|
|
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser)
|
rs1755989003
|
|
|
NM_022455.5(NSD1):c.4722T>G (p.Thr1574=)
|
rs1279409189
|
|
|
NM_022455.5(NSD1):c.4732A>G (p.Arg1578Gly)
|
rs2149904592
|
|
|
NM_022455.5(NSD1):c.4764A>G (p.Thr1588=)
|
|
|
|
NM_022455.5(NSD1):c.4765+18C>T
|
rs751340849
|
|
|
NM_022455.5(NSD1):c.4765+19G>A
|
|
|
|
NM_022455.5(NSD1):c.4766-2A>G
|
rs1581457332
|
|
|
NM_022455.5(NSD1):c.4766-7T>C
|
rs2149912243
|
|
|
NM_022455.5(NSD1):c.4766-9G>T
|
rs747358179
|
|
|
NM_022455.5(NSD1):c.4777T>A (p.Cys1593Ser)
|
rs1060501495
|
|
|
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser)
|
rs1554199383
|
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
|
NM_022455.5(NSD1):c.4818C>T (p.Cys1606=)
|
|
|
|
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn)
|
rs1756521704
|
|
|
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
|
rs1756522180
|
|
|
NM_022455.5(NSD1):c.4856G>A (p.Cys1619Tyr)
|
rs1554199411
|
|
|
NM_022455.5(NSD1):c.4860C>T (p.Val1620=)
|
rs1756523594
|
|
|
NM_022455.5(NSD1):c.4865A>G (p.Lys1622Arg)
|
|
|
|
NM_022455.5(NSD1):c.487G>A (p.Asp163Asn)
|
|
|
|
NM_022455.5(NSD1):c.4883del (p.Met1628fs)
|
rs2149912535
|
|
|
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr)
|
rs1064796568
|
|
|
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs)
|
rs1562265336
|
|
|
NM_022455.5(NSD1):c.4959A>G (p.Ala1653=)
|
|
|
|
NM_022455.5(NSD1):c.4961C>G (p.Ser1654Cys)
|
|
|
|
NM_022455.5(NSD1):c.4966+7A>G
|
rs2149912804
|
|
|
NM_022455.5(NSD1):c.4967-12T>A
|
|
|
|
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln)
|
rs1756860552
|
|
|
NM_022455.5(NSD1):c.4988G>A (p.Arg1663His)
|
rs1562269357
|
|
|
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu)
|
rs2149917734
|
|
|
NM_022455.5(NSD1):c.4995T>C (p.Pro1665=)
|
|
|
|
NM_022455.5(NSD1):c.5007C>G (p.His1669Gln)
|
rs146414176
|
|
|
NM_022455.5(NSD1):c.5020del (p.Cys1674fs)
|
rs1581468355
|
|
|
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala)
|
|
|
|
NM_022455.5(NSD1):c.5066G>T (p.Cys1689Phe)
|
rs1756866850
|
|
|
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)
|
rs1554200207
|
|
|
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
|
rs587784137
|
|
|
NM_022455.5(NSD1):c.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
|
NM_022455.5(NSD1):c.5120T>A (p.Val1707Asp)
|
rs2149918094
|
|
|
NM_022455.5(NSD1):c.5121T>C (p.Val1707=)
|
rs1756870315
|
|
|
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)
|
rs2149918110
|
|
|
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)
|
|
|
|
NM_022455.5(NSD1):c.5146+1G>A
|
rs587784139
|
|
|
NM_022455.5(NSD1):c.5146+2dup
|
rs1581468671
|
|
|
NM_022455.5(NSD1):c.5147-12T>G
|
|
|
|
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg)
|
rs1562278357
|
|
|
NM_022455.5(NSD1):c.5154C>G (p.Ser1718Arg)
|
rs1043343803
|
|
|
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg)
|
rs1554201713
|
|
|
NM_022455.5(NSD1):c.5180C>A (p.Ala1727Asp)
|
|
|
|
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln)
|
rs2149931088
|
|
|
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)
|
rs587784140
|
|
|
NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys)
|
|
|
|
NM_022455.5(NSD1):c.5235C>T (p.Cys1745=)
|
|
|
|
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer)
|
rs1757602433
|
|
|
NM_022455.5(NSD1):c.524C>T (p.Thr175Ile)
|
rs1554167548
|
|
|
NM_022455.5(NSD1):c.5269A>C (p.Arg1757=)
|
rs1280607631
|
|
|
NM_022455.5(NSD1):c.5273A>G (p.Glu1758Gly)
|
rs1581491894
|
|
|
NM_022455.5(NSD1):c.5281T>C (p.Trp1761Arg)
|
rs1060501489
|
|
|
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)
|
rs1581491984
|
|
|
NM_022455.5(NSD1):c.529G>A (p.Asp177Asn)
|
|
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
|
NM_022455.5(NSD1):c.5304-1G>C
|
rs863224905
|
|
|
NM_022455.5(NSD1):c.530A>G (p.Asp177Gly)
|
rs538618950
|
|
|
NM_022455.5(NSD1):c.5310G>C (p.Trp1770Cys)
|
rs1060501496
|
|
|
NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn)
|
rs2149934255
|
|
|
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)
|
rs794727176
|
|
|
NM_022455.5(NSD1):c.5382C>T (p.Phe1794=)
|
rs878855076
|
|
|
NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg)
|
rs2149934419
|
|
|
NM_022455.5(NSD1):c.5408A>G (p.Asp1803Gly)
|
rs2149934442
|
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
|
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs)
|
rs1554202205
|
|
|
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter)
|
rs1757804086
|
|
|
NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn)
|
rs1757805156
|
|
|
NM_022455.5(NSD1):c.549C>T (p.Ile183=)
|
rs758535770
|
|
|
NM_022455.5(NSD1):c.5502T>C (p.Tyr1834=)
|
|
|
|
NM_022455.5(NSD1):c.5509+2T>G
|
rs1581497997
|
|
|
NM_022455.5(NSD1):c.557A>T (p.Glu186Val)
|
rs1756255240
|
|
|
NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs)
|
rs2127241978
|
|
|
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)
|
rs886041218
|
|
|
NM_022455.5(NSD1):c.560C>G (p.Thr187Ser)
|
|
|
|
NM_022455.5(NSD1):c.5612A>G (p.Lys1871Arg)
|
|
|
|
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
|
rs587784152
|
|
|
NM_022455.5(NSD1):c.567C>T (p.Thr189=)
|
rs769162062
|
|
|
NM_022455.5(NSD1):c.5682T>C (p.Arg1894=)
|
|
|
|
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)
|
rs1758796866
|
|
|
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)
|
rs1758797036
|
|
|
NM_022455.5(NSD1):c.569A>T (p.Asn190Ile)
|
|
|
|
NM_022455.5(NSD1):c.5710C>A (p.Pro1904Thr)
|
|
|
|
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr)
|
rs1554204110
|
|
|
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser)
|
rs1554204110
|
|
|
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met)
|
rs1562292890
|
|
|
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)
|
|
|
|
NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer)
|
rs2127257218
|
|
|
NM_022455.5(NSD1):c.5757G>T (p.Glu1919Asp)
|
rs528069420
|
|
|
NM_022455.5(NSD1):c.5769A>C (p.Thr1923=)
|
rs1448380303
|
|
|
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr)
|
rs1758804006
|
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
|
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys)
|
rs1758806559
|
|
|
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter)
|
rs1581527915
|
|
|
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)
|
rs886041219
|
|
|
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala)
|
rs2127257578
|
|
|
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr)
|
rs587784162
|
|
|
NM_022455.5(NSD1):c.5892+1G>A
|
rs886039579
|
|
|
NM_022455.5(NSD1):c.5892+1G>T
|
rs886039579
|
|
|
NM_022455.5(NSD1):c.58G>T (p.Val20Leu)
|
rs377302741
|
|
|
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)
|
rs587784167
|
|
|
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)
|
rs797045057
|
|
|
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)
|
rs587784169
|
|
|
NM_022455.5(NSD1):c.5975A>G (p.Asp1992Gly)
|
|
|
|
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=)
|
|
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
|
NM_022455.5(NSD1):c.5994del (p.Met1998fs)
|
rs878855077
|
|
|
NM_022455.5(NSD1):c.6009+3A>C
|
rs2127261070
|
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
|
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs)
|
rs1554204923
|
|
|
NM_022455.5(NSD1):c.6037G>A (p.Gly2013Arg)
|
rs2127262871
|
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
|
NM_022455.5(NSD1):c.6063T>A (p.His2021Gln)
|
|
|
|
NM_022455.5(NSD1):c.6068_6151+174del
|
rs2127262979
|
|
|
NM_022455.5(NSD1):c.6075C>T (p.Pro2025=)
|
|
|
|
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile)
|
rs587784181
|
|
|
NM_022455.5(NSD1):c.6087A>T (p.Thr2029=)
|
|
|
|
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)
|
rs2127263139
|
|
|
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg)
|
rs2127263172
|
|
|
NM_022455.5(NSD1):c.6128T>C (p.Phe2043Ser)
|
rs2127263182
|
|
|
NM_022455.5(NSD1):c.6151+10A>T
|
|
|
|
NM_022455.5(NSD1):c.6151+18A>T
|
|
|
|
NM_022455.5(NSD1):c.6152-14G>A
|
rs587784182
|
|
|
NM_022455.5(NSD1):c.6152-5T>G
|
rs755758018
|
|
|
NM_022455.5(NSD1):c.6176A>G (p.Asn2059Ser)
|
|
|
|
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met)
|
rs1759549616
|
|
|
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs)
|
rs1759550773
|
|
|
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)
|
rs1759551453
|
|
|
NM_022455.5(NSD1):c.6258G>T (p.Lys2086Asn)
|
rs1581548127
|
|
|
NM_022455.5(NSD1):c.6259-4G>T
|
rs764710462
|
|
|
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs)
|
rs2127276046
|
|
|
NM_022455.5(NSD1):c.6294del (p.Lys2098fs)
|
rs2127276076
|
|
|
NM_022455.5(NSD1):c.6317del (p.Lys2106fs)
|
rs1562305497
|
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
|
NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn)
|
|
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
|
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly)
|
rs1562305665
|
|
|
NM_022455.5(NSD1):c.6391dup (p.Val2131fs)
|
rs2127276417
|
|
|
NM_022455.5(NSD1):c.6397T>C (p.Cys2133Arg)
|
|
|
|
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
|
|
|
|
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)
|
rs587784195
|
|
|
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser)
|
rs587784195
|
|
|
NM_022455.5(NSD1):c.641C>T (p.Thr214Ile)
|
rs1208967470
|
|
|
NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp)
|
rs1562305920
|
|
|
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)
|
rs1060501493
|
|
|
NM_022455.5(NSD1):c.6431del (p.Ala2144fs)
|
rs587784198
|
|
|
NM_022455.5(NSD1):c.6432A>G (p.Ala2144=)
|
rs757619678
|
|
|
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg)
|
rs1759885769
|
|
|
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr)
|
rs1554206834
|
|
|
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)
|
rs1554206836
|
|
|
NM_022455.5(NSD1):c.6454C>G (p.Arg2152Gly)
|
rs587784199
|
|
|
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter)
|
rs587784199
|
|
|
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs)
|
rs2127276655
|
|
|
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg)
|
rs1554206845
|
|
|
NM_022455.5(NSD1):c.6464-13T>C
|
|
|
|
NM_022455.5(NSD1):c.6464-1G>A
|
rs1760055914
|
|
|
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser)
|
rs1760056582
|
|
|
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg)
|
rs1760056582
|
|
|
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter)
|
rs1060501494
|
|
|
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs)
|
rs1760057409
|
|
|
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)
|
rs1760058101
|
|
|
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer)
|
rs1562098870
|
|
|
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
|
NM_022455.5(NSD1):c.6504_6512del (p.Lys2169_Ala2171del)
|
|
|
|
NM_022455.5(NSD1):c.6524G>A (p.Cys2175Tyr)
|
rs1581562963
|
|
|
NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg)
|
rs2127279302
|
|
|
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)
|
rs398124382
|
|
|
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr)
|
|
|
|
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
|
rs1760062897
|
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
|
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del)
|
rs1756266305
|
|
|
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr)
|
rs121908071
|
|
|
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)
|
|
|
|
NM_022455.5(NSD1):c.6606T>C (p.Cys2202=)
|
|
|
|
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
|
|
|
|
NM_022455.5(NSD1):c.661G>T (p.Ala221Ser)
|
|
|
|
NM_022455.5(NSD1):c.6620C>T (p.Pro2207Leu)
|
|
|
|
NM_022455.5(NSD1):c.6625G>T (p.Gly2209Trp)
|
rs1760067330
|
|
|
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
|
|
|
|
NM_022455.5(NSD1):c.6636T>C (p.Pro2212=)
|
|
|
|
NM_022455.5(NSD1):c.6654C>G (p.Ile2218Met)
|
|
|
|
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)
|
rs755013078
|
|
|
NM_022455.5(NSD1):c.6681G>A (p.Pro2227=)
|
|
|
|
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro)
|
rs1760072488
|
|
|
NM_022455.5(NSD1):c.672G>A (p.Ser224=)
|
rs1320622588
|
|
|
NM_022455.5(NSD1):c.6760CCT[1] (p.Pro2255del)
|
|
|
|
NM_022455.5(NSD1):c.6787T>A (p.Ser2263Thr)
|
|
|
|
NM_022455.5(NSD1):c.6804T>G (p.Ala2268=)
|
|
|
|
NM_022455.5(NSD1):c.6829T>A (p.Leu2277Met)
|
rs28580074
|
|
|
NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu)
|
|
|
|
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)
|
|
|
|
NM_022455.5(NSD1):c.6889A>G (p.Arg2297Gly)
|
|
|
|
NM_022455.5(NSD1):c.6898G>A (p.Ala2300Thr)
|
|
|
|
NM_022455.5(NSD1):c.6905C>T (p.Ser2302Leu)
|
|
|
|
NM_022455.5(NSD1):c.6920A>C (p.Gln2307Pro)
|
rs2127280443
|
|
|
NM_022455.5(NSD1):c.6971G>C (p.Gly2324Ala)
|
|
|
|
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu)
|
rs1581564675
|
|
|
NM_022455.5(NSD1):c.7041C>G (p.Ser2347=)
|
|
|
|
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser)
|
|
|
|
NM_022455.5(NSD1):c.7122A>T (p.Ser2374=)
|
|
|
|
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)
|
rs765876148
|
|
|
NM_022455.5(NSD1):c.7163C>T (p.Pro2388Leu)
|
|
|
|
NM_022455.5(NSD1):c.717G>A (p.Lys239=)
|
|
|
|
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val)
|
rs1554207690
|
|
|
NM_022455.5(NSD1):c.7182T>C (p.Ile2394=)
|
rs1760115755
|
|
|
NM_022455.5(NSD1):c.7218T>C (p.Pro2406=)
|
|
|
|
NM_022455.5(NSD1):c.7220C>G (p.Thr2407Ser)
|
|
|
|
NM_022455.5(NSD1):c.7264G>C (p.Glu2422Gln)
|
|
|
|
NM_022455.5(NSD1):c.7321C>G (p.Pro2441Ala)
|
|
|
|
NM_022455.5(NSD1):c.7329C>T (p.Asp2443=)
|
|
|
|
NM_022455.5(NSD1):c.7356T>C (p.Ala2452=)
|
|
|
|
NM_022455.5(NSD1):c.7398G>A (p.Lys2466=)
|
rs2127282700
|
|
|
NM_022455.5(NSD1):c.7401G>A (p.Glu2467=)
|
|
|
|
NM_022455.5(NSD1):c.7410T>C (p.Ala2470=)
|
|
|
|
NM_022455.5(NSD1):c.7454T>C (p.Val2485Ala)
|
|
|
|
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del)
|
rs398124385
|
|
|
NM_022455.5(NSD1):c.7554AGC[2] (p.Ala2521del)
|
|
|
|
NM_022455.5(NSD1):c.757C>G (p.Leu253Val)
|
|
|
|
NM_022455.5(NSD1):c.7595C>T (p.Ser2532Leu)
|
|
|
|
NM_022455.5(NSD1):c.7596A>G (p.Ser2532=)
|
rs2127283671
|
|
|
NM_022455.5(NSD1):c.7603del (p.Gln2535fs)
|
rs2127283690
|
|
|
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val)
|
rs1760151289
|
|
|
NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr)
|
rs1450153384
|
|
|
NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg)
|
|
|
|
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter)
|
rs749416834
|
|
|
NM_022455.5(NSD1):c.7700C>G (p.Pro2567Arg)
|
|
|
|
NM_022455.5(NSD1):c.7706C>G (p.Pro2569Arg)
|
|
|
|
NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu)
|
|
|
|
NM_022455.5(NSD1):c.7722G>A (p.Pro2574=)
|
|
|
|
NM_022455.5(NSD1):c.7748del (p.Met2583fs)
|
rs1562311573
|
|
|
NM_022455.5(NSD1):c.7752C>T (p.Val2584=)
|
rs1175003950
|
|
|
NM_022455.5(NSD1):c.7768C>G (p.Pro2590Ala)
|
|
|
|
NM_022455.5(NSD1):c.7778C>A (p.Ala2593Asp)
|
|
|
|
NM_022455.5(NSD1):c.7799T>C (p.Phe2600Ser)
|
|
|
|
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=)
|
rs769301382
|
|
|
NM_022455.5(NSD1):c.7810G>A (p.Gly2604Arg)
|
|
|
|
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
|
|
|
|
NM_022455.5(NSD1):c.788_789del (p.Thr263fs)
|
rs1756282703
|
|
|
NM_022455.5(NSD1):c.793A>G (p.Ile265Val)
|
rs771587260
|
|
|
NM_022455.5(NSD1):c.7942_7980del (p.Ser2648_Gln2660del)
|
rs762472610
|
|
|
NM_022455.5(NSD1):c.7995T>C (p.Leu2665=)
|
|
|
|
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg)
|
rs1554208207
|
|
|
NM_022455.5(NSD1):c.8045del (p.Asn2682fs)
|
|
|
|
NM_022455.5(NSD1):c.805G>A (p.Glu269Lys)
|
rs751787444
|
|
|
NM_022455.5(NSD1):c.880_881del (p.Glu294fs)
|
rs1060501492
|
|
|
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg)
|
rs1189702665
|
|
|
NM_022455.5(NSD1):c.890G>C (p.Gly297Ala)
|
rs1709968423
|
|
|
NM_022455.5(NSD1):c.897A>T (p.Ser299=)
|
|
|
|
NM_022455.5(NSD1):c.91C>G (p.Pro31Ala)
|
rs905320202
|
|
|
NM_022455.5(NSD1):c.922C>G (p.Pro308Ala)
|
|
|
|
NM_022455.5(NSD1):c.928-8G>C
|
rs1761722744
|
|
|
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
|
|
|
|
NM_022455.5(NSD1):c.951G>A (p.Thr317=)
|
|
|
|
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)
|
|
|
|
NM_022455.5(NSD1):c.97G>A (p.Gly33Ser)
|
|
|
|
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter)
|
rs1554185405
|
|
|
NM_024426.6(WT1):c.1000A>G (p.Thr334Ala)
|
|
|
|
NM_024426.6(WT1):c.1002A>T (p.Thr334=)
|
rs1590373446
|
|
|
NM_024426.6(WT1):c.1004A>G (p.Glu335Gly)
|
rs2133032382
|
|
|
NM_024426.6(WT1):c.1011G>A (p.Gln337=)
|
rs1590373398
|
|
|
NM_024426.6(WT1):c.1012A>C (p.Ser338Arg)
|
rs1852674776
|
|
|
NM_024426.6(WT1):c.1012A>G (p.Ser338Gly)
|
rs1852674776
|
|
|
NM_024426.6(WT1):c.1015A>G (p.Asn339Asp)
|
rs1852674511
|
|
|
NM_024426.6(WT1):c.1016+12A>G
|
rs2133032183
|
|
|
NM_024426.6(WT1):c.1016+13T>C
|
rs1425896469
|
|
|
NM_024426.6(WT1):c.1016+14_1016+15delinsAA
|
|
|
|
NM_024426.6(WT1):c.1016+15C>A
|
|
|
|
NM_024426.6(WT1):c.1016+16G>A
|
|
|
|
NM_024426.6(WT1):c.1016+1G>A
|
rs2133032244
|
|
|
NM_024426.6(WT1):c.1016+20A>G
|
|
|
|
NM_024426.6(WT1):c.1016+2T>G
|
rs1852674417
|
|
|
NM_024426.6(WT1):c.1016+6T>C
|
|
|
|
NM_024426.6(WT1):c.1016+7G>A
|
|
|
|
NM_024426.6(WT1):c.1016+8G>A
|
|
|
|
NM_024426.6(WT1):c.1016+8dup
|
|
|
|
NM_024426.6(WT1):c.1016A>G (p.Asn339Ser)
|
|
|
|
NM_024426.6(WT1):c.1017-10G>T
|
rs2132959474
|
|
|
NM_024426.6(WT1):c.1017-11T>C
|
rs1564975924
|
|
|
NM_024426.6(WT1):c.1017-18C>G
|
|
|
|
NM_024426.6(WT1):c.1017-19C>A
|
|
|
|
NM_024426.6(WT1):c.1017-1G>A
|
rs868047507
|
|
|
NM_024426.6(WT1):c.1017-20T>C
|
|
|
|
NM_024426.6(WT1):c.1017-20dup
|
|
|
|
NM_024426.6(WT1):c.1017-2A>G
|
|
|
|
NM_024426.6(WT1):c.1017-3C>T
|
rs1554940545
|
|
|
NM_024426.6(WT1):c.1017-8G>C
|
|
|
|
NM_024426.6(WT1):c.1017C>G (p.Asn339Lys)
|
|
|
|
NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg)
|
rs1564975891
|
|
|
NM_024426.6(WT1):c.1022G>A (p.Ser341Asn)
|
rs371021920
|
|
|
NM_024426.6(WT1):c.1028G>A (p.Gly343Glu)
|
rs2132959011
|
|
|
NM_024426.6(WT1):c.1029G>T (p.Gly343=)
|
rs752102247
|
|
|
NM_024426.6(WT1):c.1029del (p.Tyr344fs)
|
|
|
|
NM_024426.6(WT1):c.1031A>G (p.Tyr344Cys)
|
rs1852103005
|
|
|
NM_024426.6(WT1):c.1032C>T (p.Tyr344=)
|
rs1338914258
|
|
|
NM_024426.6(WT1):c.1035_1036delinsAT (p.Ser346Cys)
|
rs2132958801
|
|
|
NM_024426.6(WT1):c.1038C>G (p.Ser346Arg)
|
rs750018485
|
|
|
NM_024426.6(WT1):c.1039G>A (p.Asp347Asn)
|
rs267602851
|
|
|
NM_024426.6(WT1):c.1041T>C (p.Asp347=)
|
rs1159089816
|
|
|
NM_024426.6(WT1):c.1043A>G (p.Asn348Ser)
|
|
|
|
NM_024426.6(WT1):c.1044C>T (p.Asn348=)
|
|
|
|
NM_024426.6(WT1):c.1049C>G (p.Thr350Arg)
|
|
|
|
NM_024426.6(WT1):c.1049C>T (p.Thr350Ile)
|
|
|
|
NM_024426.6(WT1):c.1051A>G (p.Thr351Ala)
|
rs2132958406
|
|
|
NM_024426.6(WT1):c.1052C>A (p.Thr351Lys)
|
|
|
|
NM_024426.6(WT1):c.1052C>T (p.Thr351Met)
|
rs761627098
|
|
|
NM_024426.6(WT1):c.1053G>C (p.Thr351=)
|
rs1260693060
|
|
|
NM_024426.6(WT1):c.1054C>G (p.Pro352Ala)
|
|
|
|
NM_024426.6(WT1):c.1056C>T (p.Pro352=)
|
rs2132958298
|
|
|
NM_024426.6(WT1):c.1057A>G (p.Ile353Val)
|
rs1554940527
|
|
|
NM_024426.6(WT1):c.105G>T (p.Gln35His)
|
|
|
|
NM_024426.6(WT1):c.1060C>T (p.Leu354Phe)
|
|
|
|
NM_024426.6(WT1):c.1067G>A (p.Gly356Glu)
|
rs760654956
|
|
|
NM_024426.6(WT1):c.1068A>G (p.Gly356=)
|
|
|
|
NM_024426.6(WT1):c.1069G>A (p.Ala357Thr)
|
|
|
|
NM_024426.6(WT1):c.1070C>A (p.Ala357Asp)
|
|
|
|
NM_024426.6(WT1):c.1071C>G (p.Ala357=)
|
|
|
|
NM_024426.6(WT1):c.1072C>G (p.Gln358Glu)
|
rs771117558
|
|
|
NM_024426.6(WT1):c.1073A>G (p.Gln358Arg)
|
rs1554940518
|
|
|
NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)
|
|
|
|
NM_024426.6(WT1):c.1078A>G (p.Arg360Gly)
|
rs1852099254
|
|
|
NM_024426.6(WT1):c.107A>T (p.Gln36Leu)
|
|
|
|
NM_024426.6(WT1):c.1082T>C (p.Ile361Thr)
|
rs2132957665
|
|
|
NM_024426.6(WT1):c.1086C>G (p.His362Gln)
|
rs1421853816
|
|
|
NM_024426.6(WT1):c.1087A>T (p.Thr363Ser)
|
|
|
|
NM_024426.6(WT1):c.1088C>A (p.Thr363Lys)
|
|
|
|
NM_024426.6(WT1):c.1088C>G (p.Thr363Arg)
|
rs1852098454
|
|
|
NM_024426.6(WT1):c.1088C>T (p.Thr363Met)
|
|
|
|
NM_024426.6(WT1):c.1089G>A (p.Thr363=)
|
rs1564975679
|
|
|
NM_024426.6(WT1):c.1089G>T (p.Thr363=)
|
rs1564975679
|
|
|
NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn)
|
rs2132957418
|
|
|
NM_024426.6(WT1):c.108G>A (p.Gln36=)
|
rs2133107241
|
|
|
NM_024426.6(WT1):c.1092C>T (p.His364=)
|
rs587778756
|
|
|
NM_024426.6(WT1):c.1093G>A (p.Gly365Ser)
|
|
|
|
NM_024426.6(WT1):c.1093G>C (p.Gly365Arg)
|
|
|
|
NM_024426.6(WT1):c.1108A>T (p.Ile370Phe)
|
|
|
|
NM_024426.6(WT1):c.1109T>G (p.Ile370Ser)
|
rs1852096499
|
|
|
NM_024426.6(WT1):c.110G>A (p.Gly37Glu)
|
|
|
|
NM_024426.6(WT1):c.110G>C (p.Gly37Ala)
|
rs1853477982
|
|
|
NM_024426.6(WT1):c.1112A>G (p.Gln371Arg)
|
rs1852096219
|
|
|
NM_024426.6(WT1):c.1113+10C>T
|
|
|
|
NM_024426.6(WT1):c.1113+13_1113+16del
|
rs781613684
|
|
|
NM_024426.6(WT1):c.1113+14C>T
|
|
|
|
NM_024426.6(WT1):c.1113+3G>A
|
|
|
|
NM_024426.6(WT1):c.1113+5G>C
|
rs930795675
|
|
|
NM_024426.6(WT1):c.1113+7A>G
|
|
|
|
NM_024426.6(WT1):c.1113+8C>T
|
rs2132956703
|
|
|
NM_024426.6(WT1):c.1113+9A>C
|
|
|
|
NM_024426.6(WT1):c.1113+9A>G
|
|
|
|
NM_024426.6(WT1):c.1114-13T>C
|
rs2132942587
|
|
|
NM_024426.6(WT1):c.1114-14C>T
|
|
|
|
NM_024426.6(WT1):c.1114-14CT[2]
|
rs994248697
|
|
|
NM_024426.6(WT1):c.1114-15A>C
|
|
|
|
NM_024426.6(WT1):c.1114-15A>G
|
rs776971636
|
|
|
NM_024426.6(WT1):c.1114-1G>T
|
rs1851976798
|
|
|
NM_024426.6(WT1):c.1114-4G>A
|
rs2132942410
|
|
|
NM_024426.6(WT1):c.1114-6C>T
|
rs2132942429
|
|
|
NM_024426.6(WT1):c.1114-7C>G
|
|
|
|
NM_024426.6(WT1):c.1114G>C (p.Asp372His)
|
|
|
|
NM_024426.6(WT1):c.1119G>A (p.Val373=)
|
rs780497248
|
|
|
NM_024426.6(WT1):c.111A>G (p.Gly37=)
|
|
|
|
NM_024426.6(WT1):c.1120C>G (p.Arg374Gly)
|
|
|
|
NM_024426.6(WT1):c.1121_1122delinsAG (p.Arg374Gln)
|
rs2132942126
|
|
|
NM_024426.6(WT1):c.1121_1122insGGGG (p.Arg375fs)
|
rs2132942163
|
|
|
NM_024426.6(WT1):c.1122A>C (p.Arg374=)
|
rs16754
|
|
|
NM_024426.6(WT1):c.1122_1123inv (p.Arg375Cys)
|
|
|
|
NM_024426.6(WT1):c.1122_1124delinsGTA (p.Arg375Tyr)
|
|
|
|
NM_024426.6(WT1):c.1124G>C (p.Arg375Pro)
|
rs554416372
|
|
|
NM_024426.6(WT1):c.1124G>T (p.Arg375Leu)
|
rs554416372
|
|
|
NM_024426.6(WT1):c.1126G>A (p.Val376Met)
|
|
|
|
NM_024426.6(WT1):c.1127T>C (p.Val376Ala)
|
rs1180529775
|
|
|
NM_024426.6(WT1):c.1129C>T (p.Pro377Ser)
|
|
|
|
NM_024426.6(WT1):c.112G>A (p.Val38Ile)
|
|
|
|
NM_024426.6(WT1):c.112G>T (p.Val38Phe)
|
rs1229949294
|
|
|
NM_024426.6(WT1):c.1130C>A (p.Pro377His)
|
rs1590339111
|
|
|
NM_024426.6(WT1):c.1134A>G (p.Gly378=)
|
rs965752073
|
|
|
NM_024426.6(WT1):c.1139C>A (p.Ala380Asp)
|
rs2132941654
|
|
|
NM_024426.6(WT1):c.1139C>T (p.Ala380Val)
|
rs2132941654
|
|
|
NM_024426.6(WT1):c.1141C>G (p.Pro381Ala)
|
|
|
|
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
|
|
|
|
NM_024426.6(WT1):c.1143G>A (p.Pro381=)
|
rs1554939849
|
|
|
NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)
|
|
|
|
NM_024426.6(WT1):c.1144A>G (p.Thr382Ala)
|
rs1851973152
|
|
|
NM_024426.6(WT1):c.1145C>T (p.Thr382Ile)
|
rs2132941453
|
|
|
NM_024426.6(WT1):c.1146T>C (p.Thr382=)
|
rs371168589
|
|
|
NM_024426.6(WT1):c.1149del (p.Val384fs)
|
rs1554939839
|
|
|
NM_024426.6(WT1):c.114C>G (p.Val38=)
|
|
|
|
NM_024426.6(WT1):c.1152A>G (p.Val384=)
|
rs2132941316
|
|
|
NM_024426.6(WT1):c.1154G>C (p.Arg385Pro)
|
rs147241955
|
|
|
NM_024426.6(WT1):c.1154G>T (p.Arg385Leu)
|
rs147241955
|
|
|
NM_024426.6(WT1):c.1155G>A (p.Arg385=)
|
rs776651253
|
|
|
NM_024426.6(WT1):c.1157C>T (p.Ser386Leu)
|
|
|
|
NM_024426.6(WT1):c.1159G>A (p.Ala387Thr)
|
rs1412336417
|
|
|
NM_024426.6(WT1):c.1161A>T (p.Ala387=)
|
rs141834493
|
|
|
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro)
|
rs992930804
|
|
|
NM_024426.6(WT1):c.1163C>G (p.Ser388Cys)
|
|
|
|
NM_024426.6(WT1):c.1164T>C (p.Ser388=)
|
|
|
|
NM_024426.6(WT1):c.1168A>G (p.Thr390Ala)
|
|
|
|
NM_024426.6(WT1):c.116G>C (p.Arg39Pro)
|
|
|
|
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
|
|
|
|
NM_024426.6(WT1):c.1173T>G (p.Ser391Arg)
|
|
|
|
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys)
|
rs1851970123
|
|
|
NM_024426.6(WT1):c.117G>T (p.Arg39=)
|
|
|
|
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys)
|
rs1564972874
|
|
|
NM_024426.6(WT1):c.1182C>G (p.Arg394=)
|
rs147939483
|
|
|
NM_024426.6(WT1):c.1183C>A (p.Pro395Thr)
|
rs267602850
|
|
|
NM_024426.6(WT1):c.1184C>T (p.Pro395Leu)
|
rs1851969544
|
|
|
NM_024426.6(WT1):c.1188C>A (p.Phe396Leu)
|
rs200539928
|
|
|
NM_024426.6(WT1):c.1188C>T (p.Phe396=)
|
rs200539928
|
|
|
NM_024426.6(WT1):c.1189A>G (p.Met397Val)
|
|
|
|
NM_024426.6(WT1):c.118G>C (p.Asp40His)
|
rs1853477193
|
|
|
NM_024426.6(WT1):c.118del (p.Asp40fs)
|
rs2133107122
|
|
|
NM_024426.6(WT1):c.1190T>C (p.Met397Thr)
|
rs2132940385
|
|
|
NM_024426.6(WT1):c.1190T>G (p.Met397Arg)
|
|
|
|
NM_024426.6(WT1):c.1191G>A (p.Met397Ile)
|
rs2132940348
|
|
|
NM_024426.6(WT1):c.1192T>A (p.Cys398Ser)
|
rs2132940315
|
|
|
NM_024426.6(WT1):c.1196C>G (p.Ala399Gly)
|
rs1590338798
|
|
|
NM_024426.6(WT1):c.1196C>T (p.Ala399Val)
|
rs1590338798
|
|
|
NM_024426.6(WT1):c.119A>C (p.Asp40Ala)
|
|
|
|
NM_024426.6(WT1):c.1200C>T (p.Tyr400=)
|
rs886048227
|
|
|
NM_024426.6(WT1):c.1202C>A (p.Pro401Gln)
|
|
|
|
NM_024426.6(WT1):c.1206C>G (p.Gly402=)
|
rs2132940083
|
|
|
NM_024426.6(WT1):c.1211A>G (p.Asn404Ser)
|
rs748864758
|
|
|
NM_024426.6(WT1):c.1215G>A (p.Lys405=)
|
rs2132939936
|
|
|
NM_024426.6(WT1):c.1217G>A (p.Arg406Lys)
|
rs1851967853
|
|
|
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser)
|
rs1554939793
|
|
|
NM_024426.6(WT1):c.1219T>C (p.Tyr407His)
|
|
|
|
NM_024426.6(WT1):c.121C>G (p.Pro41Ala)
|
rs926668379
|
|
|
NM_024426.6(WT1):c.1224T>C (p.Phe408=)
|
|
|
|
NM_024426.6(WT1):c.1227G>A (p.Lys409=)
|
rs1554939791
|
|
|
NM_024426.6(WT1):c.1230G>A (p.Leu410=)
|
rs1851967232
|
|
|
NM_024426.6(WT1):c.1233C>A (p.Ser411=)
|
|
|
|
NM_024426.6(WT1):c.1233C>G (p.Ser411=)
|
|
|
|
NM_024426.6(WT1):c.123G>A (p.Pro41=)
|
rs555140661
|
|
|
NM_024426.6(WT1):c.1240C>T (p.Gln414Ter)
|
rs2132939500
|
|
|
NM_024426.6(WT1):c.1249A>G (p.Ser417Gly)
|
|
|
|
NM_024426.6(WT1):c.1260C>T (p.His420=)
|
rs1554939784
|
|
|
NM_024426.6(WT1):c.1261A>G (p.Thr421Ala)
|
|
|
|
NM_024426.6(WT1):c.1261A>T (p.Thr421Ser)
|
|
|
|
NM_024426.6(WT1):c.1262C>G (p.Thr421Ser)
|
|
|
|
NM_024426.6(WT1):c.1264+15T>C
|
|
|
|
NM_024426.6(WT1):c.1264+16G>C
|
|
|
|
NM_024426.6(WT1):c.1264+20A>T
|
rs1227250951
|
|
|
NM_024426.6(WT1):c.1264+3A>G
|
|
|
|
NM_024426.6(WT1):c.1264+6T>A
|
rs1366602349
|
|
|
NM_024426.6(WT1):c.1264+9G>A
|
rs2132938978
|
|
|
NM_024426.6(WT1):c.1265-10C>G
|
|
|
|
NM_024426.6(WT1):c.1265-12G>C
|
rs2132921730
|
|
|
NM_024426.6(WT1):c.1265-15T>C
|
rs933629326
|
|
|
NM_024426.6(WT1):c.1265-16_1265-15del
|
rs1447574915
|
|
|
NM_024426.6(WT1):c.1265-18A>G
|
|
|
|
NM_024426.6(WT1):c.1265-4C>T
|
rs918343735
|
|
|
NM_024426.6(WT1):c.1265-6C>T
|
rs1590332639
|
|
|
NM_024426.6(WT1):c.126C>A (p.Gly42=)
|
|
|
|
NM_024426.6(WT1):c.126C>T (p.Gly42=)
|
rs1853476071
|
|
|
NM_024426.6(WT1):c.1274C>G (p.Pro425Arg)
|
rs2132921474
|
|
|
NM_024426.6(WT1):c.1275A>G (p.Pro425=)
|
rs2132921460
|
|
|
NM_024426.6(WT1):c.127G>A (p.Gly43Ser)
|
|
|
|
NM_024426.6(WT1):c.127G>C (p.Gly43Arg)
|
|
|
|
NM_024426.6(WT1):c.127G>T (p.Gly43Cys)
|
rs1166553415
|
|
|
NM_024426.6(WT1):c.1280A>C (p.Gln427Pro)
|
rs1358408901
|
|
|
NM_024426.6(WT1):c.1285G>A (p.Asp429Asn)
|
|
|
|
NM_024426.6(WT1):c.1287C>T (p.Asp429=)
|
|
|
|
NM_024426.6(WT1):c.1289T>G (p.Phe430Cys)
|
|
|
|
NM_024426.6(WT1):c.128G>T (p.Gly43Val)
|
|
|
|
NM_024426.6(WT1):c.1293G>A (p.Lys431=)
|
|
|
|
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)
|
rs121907905
|
|
|
NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)
|
|
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
|
NM_024426.6(WT1):c.1305A>G (p.Arg435=)
|
|
|
|
NM_024426.6(WT1):c.1306A>C (p.Arg436=)
|
|
|
|
NM_024426.6(WT1):c.1307G>A (p.Arg436Lys)
|
rs2132920559
|
|
|
NM_024426.6(WT1):c.1313C>G (p.Ser438Cys)
|
rs2132920415
|
|
|
NM_024426.6(WT1):c.1316G>A (p.Arg439His)
|
rs121907901
|
|
|
NM_024426.6(WT1):c.1320A>G (p.Ser440=)
|
|
|
|
NM_024426.6(WT1):c.1329C>A (p.Leu443=)
|
|
|
|
NM_024426.6(WT1):c.1331A>G (p.Lys444Arg)
|
rs1851852482
|
|
|
NM_024426.6(WT1):c.1332A>G (p.Lys444=)
|
rs1319380075
|
|
|
NM_024426.6(WT1):c.1338C>A (p.His446Gln)
|
rs121907907
|
|
|
NM_024426.6(WT1):c.133T>G (p.Trp45Gly)
|
rs1186470250
|
|
|
NM_024426.6(WT1):c.1341A>C (p.Gln447His)
|
rs772822466
|
|
|
NM_024426.6(WT1):c.1341A>G (p.Gln447=)
|
rs772822466
|
|
|
NM_024426.6(WT1):c.1344G>A (p.Arg448=)
|
rs1236598690
|
|
|
NM_024426.6(WT1):c.1344G>C (p.Arg448Ser)
|
|
|
|
NM_024426.6(WT1):c.1345A>C (p.Arg449=)
|
rs2132919527
|
|
|
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)
|
rs28942089
|
|
|
NM_024426.6(WT1):c.1350T>C (p.His450=)
|
|
|
|
NM_024426.6(WT1):c.1351A>T (p.Thr451Ser)
|
|
|
|
NM_024426.6(WT1):c.1354+10T>C
|
rs2132919152
|
|
|
NM_024426.6(WT1):c.1354+12C>T
|
|
|
|
NM_024426.6(WT1):c.1354+14C>T
|
|
|
|
NM_024426.6(WT1):c.1354+15T>G
|
rs747790701
|
|
|
NM_024426.6(WT1):c.1354+19C>T
|
rs2132918999
|
|
|
NM_024426.6(WT1):c.1354+20A>G
|
|
|
|
NM_024426.6(WT1):c.1354+9G>A
|
rs765187288
|
|
|
NM_024426.6(WT1):c.1355-10G>A
|
|
|
|
NM_024426.6(WT1):c.1355-10G>C
|
rs1590331597
|
|
|
NM_024426.6(WT1):c.1355-19A>T
|
|
|
|
NM_024426.6(WT1):c.1355-24_1355-20del
|
|
|
|
NM_024426.6(WT1):c.1355-6_1355-5del
|
|
|
|
NM_024426.6(WT1):c.1355-8C>T
|
rs1851834598
|
|
|
NM_024426.6(WT1):c.136G>A (p.Ala46Thr)
|
rs886048233
|
|
|
NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)
|
|
|
|
NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)
|
|
|
|
NM_024426.6(WT1):c.1373G>C (p.Cys458Ser)
|
rs2132915129
|
|
|
NM_024426.6(WT1):c.1374del (p.Gln457_Cys458insTer)
|
|
|
|
NM_024426.6(WT1):c.1376A>G (p.Lys459Arg)
|
rs1851834162
|
|
|
NM_024426.6(WT1):c.1379C>A (p.Thr460Asn)
|
|
|
|
NM_024426.6(WT1):c.1379C>T (p.Thr460Ile)
|
|
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
|
NM_024426.6(WT1):c.1389A>G (p.Arg463=)
|
rs1851833175
|
|
|
NM_024426.6(WT1):c.1389A>T (p.Arg463=)
|
|
|
|
NM_024426.6(WT1):c.138C>A (p.Ala46=)
|
rs2133106888
|
|
|
NM_024426.6(WT1):c.1395C>T (p.Phe465=)
|
rs1430665640
|
|
|
NM_024426.6(WT1):c.1398C>G (p.Ser466=)
|
rs2132914513
|
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
|
NM_024426.6(WT1):c.1401G>A (p.Arg467=)
|
rs2132914457
|
|
|
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)
|
rs121907902
|
|
|
NM_024426.6(WT1):c.1407C>T (p.Asp469=)
|
|
|
|
NM_024426.6(WT1):c.1408C>T (p.His470Tyr)
|
rs1554939072
|
|
|
NM_024426.6(WT1):c.1411C>T (p.Leu471=)
|
rs1851831198
|
|
|
NM_024426.6(WT1):c.1422C>T (p.His474=)
|
rs1554939066
|
|
|
NM_024426.6(WT1):c.1424C>T (p.Thr475Ile)
|
|
|
|
NM_024426.6(WT1):c.1425C>G (p.Thr475=)
|
rs2132913876
|
|
|
NM_024426.6(WT1):c.1425C>T (p.Thr475=)
|
|
|
|
NM_024426.6(WT1):c.1426A>C (p.Arg476=)
|
rs2132913863
|
|
|
NM_024426.6(WT1):c.1428G>A (p.Arg476=)
|
|
|
|
NM_024426.6(WT1):c.1433A>T (p.His478Leu)
|
|
|
|
NM_024426.6(WT1):c.143T>C (p.Leu48Ser)
|
rs1565002394
|
|
|
NM_024426.6(WT1):c.143T>G (p.Leu48Ter)
|
|
|
|
NM_024426.6(WT1):c.1447+13T>C
|
rs2132913405
|
|
|
NM_024426.6(WT1):c.1447+15C>T
|
|
|
|
NM_024426.6(WT1):c.1447+16_1447+18del
|
rs1235706040
|
|
|
NM_024426.6(WT1):c.1447+19A>G
|
rs2132913356
|
|
|
NM_024426.6(WT1):c.1447+2T>C
|
rs1851829439
|
|
|
NM_024426.6(WT1):c.1447+3G>A
|
rs2132913499
|
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
|
NM_024426.6(WT1):c.1447+7A>G
|
rs2132913455
|
|
|
NM_024426.6(WT1):c.1448-10G>A
|
rs185744719
|
|
|
NM_024426.6(WT1):c.1448-10G>T
|
rs185744719
|
|
|
NM_024426.6(WT1):c.1448-13A>G
|
|
|
|
NM_024426.6(WT1):c.1448-13A>T
|
rs768449767
|
|
|
NM_024426.6(WT1):c.1448-18T>C
|
|
|
|
NM_024426.6(WT1):c.1448-18T>G
|
|
|
|
NM_024426.6(WT1):c.1448-19C>A
|
|
|
|
NM_024426.6(WT1):c.1448-3C>A
|
rs904330511
|
|
|
NM_024426.6(WT1):c.1448-3C>T
|
|
|
|
NM_024426.6(WT1):c.1448-6C>G
|
|
|
|
NM_024426.6(WT1):c.1448-9T>C
|
rs1590326385
|
|
|
NM_024426.6(WT1):c.1449T>C (p.Ser483=)
|
rs2132900047
|
|
|
NM_024426.6(WT1):c.1458C>T (p.Pro486=)
|
|
|
|
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)
|
rs267602849
|
|
|
NM_024426.6(WT1):c.1464C>T (p.Ser488=)
|
rs1590326329
|
|
|
NM_024426.6(WT1):c.1467T>C (p.Cys489=)
|
rs2132899651
|
|
|
NM_024426.6(WT1):c.1468C>T (p.Arg490Trp)
|
rs1315549918
|
|
|
NM_024426.6(WT1):c.1474C>T (p.Pro492Ser)
|
rs761360324
|
|
|
NM_024426.6(WT1):c.1476A>G (p.Pro492=)
|
rs2132899419
|
|
|
NM_024426.6(WT1):c.1477A>C (p.Ser493Arg)
|
rs776256676
|
|
|
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn)
|
rs763551837
|
|
|
NM_024426.6(WT1):c.1479T>C (p.Ser493=)
|
rs1334930117
|
|
|
NM_024426.6(WT1):c.147C>A (p.Gly49=)
|
rs2133106795
|
|
|
NM_024426.6(WT1):c.1485G>T (p.Gln495His)
|
|
|
|
NM_024426.6(WT1):c.1496C>G (p.Ala499Gly)
|
rs2132898997
|
|
|
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)
|
rs1590326226
|
|
|
NM_024426.6(WT1):c.1500G>C (p.Arg500=)
|
rs2132898861
|
|
|
NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)
|
|
|
|
NM_024426.6(WT1):c.150C>A (p.Ala50=)
|
rs1554946724
|
|
|
NM_024426.6(WT1):c.150C>T (p.Ala50=)
|
rs1554946724
|
|
|
NM_024426.6(WT1):c.150del (p.Ala51fs)
|
rs2133106747
|
|
|
NM_024426.6(WT1):c.1510T>G (p.Leu504Val)
|
|
|
|
NM_024426.6(WT1):c.1513G>A (p.Val505Ile)
|
|
|
|
NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)
|
|
|
|
NM_024426.6(WT1):c.1517G>T (p.Arg506Leu)
|
rs1851744303
|
|
|
NM_024426.6(WT1):c.1518C>G (p.Arg506=)
|
|
|
|
NM_024426.6(WT1):c.1519del (p.His507fs)
|
|
|
|
NM_024426.6(WT1):c.151G>A (p.Ala51Thr)
|
rs1853473868
|
|
|
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn)
|
rs2133106703
|
|
|
NM_024426.6(WT1):c.1524C>A (p.His508Gln)
|
rs1451629862
|
|
|
NM_024426.6(WT1):c.1526A>T (p.Asn509Ile)
|
rs2132898041
|
|
|
NM_024426.6(WT1):c.1528A>G (p.Met510Val)
|
rs1554938534
|
|
|
NM_024426.6(WT1):c.1529T>A (p.Met510Lys)
|
rs1851743827
|
|
|
NM_024426.6(WT1):c.1538G>C (p.Arg513Thr)
|
rs1363144688
|
|
|
NM_024426.6(WT1):c.153C>A (p.Ala51=)
|
|
|
|
NM_024426.6(WT1):c.153C>T (p.Ala51=)
|
rs1590411186
|
|
|
NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)
|
|
|
|
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser)
|
rs1554938531
|
|
|
NM_024426.6(WT1):c.1541A>T (p.Asn514Ile)
|
rs1554938531
|
|
|
NM_024426.6(WT1):c.1545G>A (p.Met515Ile)
|
rs2132897547
|
|
|
NM_024426.6(WT1):c.1551A>G (p.Lys517=)
|
|
|
|
NM_024426.6(WT1):c.1557G>A (p.Gln519=)
|
rs2132897298
|
|
|
NM_024426.6(WT1):c.1561G>C (p.Ala521Pro)
|
rs1851742668
|
|
|
NM_024426.6(WT1):c.1563G>C (p.Ala521=)
|
|
|
|
NM_024426.6(WT1):c.1563G>T (p.Ala521=)
|
rs202118284
|
|
|
NM_024426.6(WT1):c.1569A>G (p.Ter523Trp)
|
rs1851742229
|
|
|
NM_024426.6(WT1):c.161G>C (p.Ser54Thr)
|
|
|
|
NM_024426.6(WT1):c.162C>A (p.Ser54Arg)
|
rs776954184
|
|
|
NM_024426.6(WT1):c.162C>T (p.Ser54=)
|
|
|
|
NM_024426.6(WT1):c.163G>T (p.Ala55Ser)
|
|
|
|
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val)
|
rs2133106545
|
|
|
NM_024426.6(WT1):c.166G>C (p.Glu56Gln)
|
|
|
|
NM_024426.6(WT1):c.169C>A (p.Arg57Ser)
|
rs961526551
|
|
|
NM_024426.6(WT1):c.169C>G (p.Arg57Gly)
|
rs961526551
|
|
|
NM_024426.6(WT1):c.16C>T (p.Leu6=)
|
|
|
|
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)
|
|
|
|
NM_024426.6(WT1):c.170G>A (p.Arg57His)
|
rs1011628259
|
|
|
NM_024426.6(WT1):c.170G>T (p.Arg57Leu)
|
rs1011628259
|
|
|
NM_024426.6(WT1):c.172C>T (p.Leu58Phe)
|
rs1412425868
|
|
|
NM_024426.6(WT1):c.173T>G (p.Leu58Arg)
|
|
|
|
NM_024426.6(WT1):c.174C>G (p.Leu58=)
|
rs886048232
|
|
|
NM_024426.6(WT1):c.176A>G (p.Gln59Arg)
|
rs2133106426
|
|
|
NM_024426.6(WT1):c.177G>A (p.Gln59=)
|
rs1311704660
|
|
|
NM_024426.6(WT1):c.177G>C (p.Gln59His)
|
rs1311704660
|
|
|
NM_024426.6(WT1):c.17T>C (p.Leu6Pro)
|
|
|
|
NM_024426.6(WT1):c.181C>T (p.Arg61Trp)
|
|
|
|
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter)
|
|
|
|
NM_024426.6(WT1):c.182G>A (p.Arg61Gln)
|
|
|
|
NM_024426.6(WT1):c.182G>C (p.Arg61Pro)
|
|
|
|
NM_024426.6(WT1):c.185G>A (p.Arg62Lys)
|
rs1295712217
|
|
|
NM_024426.6(WT1):c.189C>A (p.Ser63Arg)
|
rs1215127008
|
|
|
NM_024426.6(WT1):c.189C>T (p.Ser63=)
|
rs1215127008
|
|
|
NM_024426.6(WT1):c.191G>A (p.Arg64His)
|
rs1853471149
|
|
|
NM_024426.6(WT1):c.193G>T (p.Gly65Trp)
|
rs374404615
|
|
|
NM_024426.6(WT1):c.194G>A (p.Gly65Glu)
|
rs1853470727
|
|
|
NM_024426.6(WT1):c.196G>A (p.Ala66Thr)
|
rs1590410967
|
|
|
NM_024426.6(WT1):c.196del (p.Ala66fs)
|
|
|
|
NM_024426.6(WT1):c.197C>A (p.Ala66Glu)
|
rs1341675324
|
|
|
NM_024426.6(WT1):c.197C>T (p.Ala66Val)
|
|
|
|
NM_024426.6(WT1):c.198G>A (p.Ala66=)
|
rs955105743
|
|
|
NM_024426.6(WT1):c.19C>A (p.Gln7Lys)
|
rs2133108011
|
|
|
NM_024426.6(WT1):c.19C>T (p.Gln7Ter)
|
rs2133108011
|
|
|
NM_024426.6(WT1):c.200C>T (p.Ser67Phe)
|
rs1327516147
|
|
|
NM_024426.6(WT1):c.201C>T (p.Ser67=)
|
rs771769393
|
|
|
NM_024426.6(WT1):c.202G>C (p.Gly68Arg)
|
rs1353446740
|
|
|
NM_024426.6(WT1):c.203G>A (p.Gly68Glu)
|
rs1170323988
|
|
|
NM_024426.6(WT1):c.204G>A (p.Gly68=)
|
rs1554946680
|
|
|
NM_024426.6(WT1):c.210G>C (p.Glu70Asp)
|
rs745506215
|
|
|
NM_024426.6(WT1):c.211C>T (p.Pro71Ser)
|
rs1392405207
|
|
|
NM_024426.6(WT1):c.215A>T (p.Gln72Leu)
|
rs2133106001
|
|
|
NM_024426.6(WT1):c.216G>A (p.Gln72=)
|
|
|
|
NM_024426.6(WT1):c.216G>C (p.Gln72His)
|
rs5030135
|
|
|
NM_024426.6(WT1):c.225C>A (p.Gly75=)
|
rs1590410808
|
|
|
NM_024426.6(WT1):c.225C>G (p.Gly75=)
|
rs1590410808
|
|
|
NM_024426.6(WT1):c.225C>T (p.Gly75=)
|
rs1590410808
|
|
|
NM_024426.6(WT1):c.225del (p.Ser76fs)
|
|
|
|
NM_024426.6(WT1):c.228C>T (p.Ser76=)
|
rs2133105899
|
|
|
NM_024426.6(WT1):c.230A>T (p.Asp77Val)
|
|
|
|
NM_024426.6(WT1):c.231C>T (p.Asp77=)
|
rs1193574882
|
|
|
NM_024426.6(WT1):c.232G>A (p.Val78Met)
|
rs1590410789
|
|
|
NM_024426.6(WT1):c.236G>A (p.Arg79Gln)
|
rs1853467176
|
|
|
NM_024426.6(WT1):c.237G>A (p.Arg79=)
|
|
|
|
NM_024426.6(WT1):c.237G>C (p.Arg79=)
|
rs1590410776
|
|
|
NM_024426.6(WT1):c.238G>C (p.Asp80His)
|
|
|
|
NM_024426.6(WT1):c.23A>T (p.Asp8Val)
|
|
|
|
NM_024426.6(WT1):c.240C>G (p.Asp80Glu)
|
rs2133105820
|
|
|
NM_024426.6(WT1):c.241C>A (p.Leu81Met)
|
rs777617460
|
|
|
NM_024426.6(WT1):c.241C>T (p.Leu81=)
|
rs777617460
|
|
|
NM_024426.6(WT1):c.242T>G (p.Leu81Arg)
|
rs2133105795
|
|
|
NM_024426.6(WT1):c.244A>G (p.Asn82Asp)
|
|
|
|
NM_024426.6(WT1):c.246C>A (p.Asn82Lys)
|
|
|
|
NM_024426.6(WT1):c.246C>G (p.Asn82Lys)
|
|
|
|
NM_024426.6(WT1):c.247G>A (p.Ala83Thr)
|
|
|
|
NM_024426.6(WT1):c.247G>C (p.Ala83Pro)
|
rs886048231
|
|
|
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)
|
|
|
|
NM_024426.6(WT1):c.249G>A (p.Ala83=)
|
rs1233220797
|
|
|
NM_024426.6(WT1):c.249G>T (p.Ala83=)
|
|
|
|
NM_024426.6(WT1):c.24C>A (p.Asp8Glu)
|
rs1393437791
|
|
|
NM_024426.6(WT1):c.24C>G (p.Asp8Glu)
|
rs1393437791
|
|
|
NM_024426.6(WT1):c.24C>T (p.Asp8=)
|
|
|
|
NM_024426.6(WT1):c.250C>T (p.Leu84=)
|
rs756055892
|
|
|
NM_024426.6(WT1):c.254T>C (p.Leu85Pro)
|
|
|
|
NM_024426.6(WT1):c.257C>T (p.Pro86Leu)
|
|
|
|
NM_024426.6(WT1):c.258C>A (p.Pro86=)
|
rs1389359790
|
|
|
NM_024426.6(WT1):c.259G>A (p.Ala87Thr)
|
rs752686863
|
|
|
NM_024426.6(WT1):c.25C>A (p.Pro9Thr)
|
rs1314273962
|
|
|
NM_024426.6(WT1):c.261C>A (p.Ala87=)
|
|
|
|
NM_024426.6(WT1):c.261C>G (p.Ala87=)
|
|
|
|
NM_024426.6(WT1):c.261C>T (p.Ala87=)
|
rs1298313010
|
|
|
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe)
|
|
|
|
NM_024426.6(WT1):c.262G>T (p.Val88Phe)
|
rs1410971862
|
|
|
NM_024426.6(WT1):c.263T>A (p.Val88Asp)
|
|
|
|
NM_024426.6(WT1):c.265C>A (p.Pro89Thr)
|
|
|
|
NM_024426.6(WT1):c.266C>T (p.Pro89Leu)
|
|
|
|
NM_024426.6(WT1):c.267C>T (p.Pro89=)
|
rs1172336462
|
|
|
NM_024426.6(WT1):c.268T>C (p.Ser90Pro)
|
rs1590410623
|
|
|
NM_024426.6(WT1):c.269C>T (p.Ser90Phe)
|
rs1853464700
|
|
|
NM_024426.6(WT1):c.26C>G (p.Pro9Arg)
|
rs948132360
|
|
|
NM_024426.6(WT1):c.270C>G (p.Ser90=)
|
|
|
|
NM_024426.6(WT1):c.270C>T (p.Ser90=)
|
rs766441234
|
|
|
NM_024426.6(WT1):c.271C>T (p.Leu91=)
|
|
|
|
NM_024426.6(WT1):c.275dup (p.Gly93fs)
|
|
|
|
NM_024426.6(WT1):c.276del (p.Gly93fs)
|
rs2133105444
|
|
|
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del)
|
rs770519620
|
|
|
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup)
|
rs770519620
|
|
|
NM_024426.6(WT1):c.278G>A (p.Gly93Asp)
|
rs1590410578
|
|
|
NM_024426.6(WT1):c.279C>A (p.Gly93=)
|
rs1590410564
|
|
|
NM_024426.6(WT1):c.279C>T (p.Gly93=)
|
rs1590410564
|
|
|
NM_024426.6(WT1):c.280G>A (p.Gly94Ser)
|
rs758512604
|
|
|
NM_024426.6(WT1):c.282C>T (p.Gly94=)
|
rs1565001990
|
|
|
NM_024426.6(WT1):c.284G>A (p.Gly95Asp)
|
|
|
|
NM_024426.6(WT1):c.286G>T (p.Gly96Cys)
|
rs1060501254
|
|
|
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly)
|
|
|
|
NM_024426.6(WT1):c.289T>C (p.Cys97Arg)
|
rs1383360383
|
|
|
NM_024426.6(WT1):c.28G>A (p.Ala10Thr)
|
|
|
|
NM_024426.6(WT1):c.28G>T (p.Ala10Ser)
|
rs1351753257
|
|
|
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile)
|
rs1554946803
|
|
|
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)
|
rs1554946803
|
|
|
NM_024426.6(WT1):c.290G>C (p.Cys97Ser)
|
rs1853462998
|
|
|
NM_024426.6(WT1):c.291T>C (p.Cys97=)
|
rs750588084
|
|
|
NM_024426.6(WT1):c.293C>G (p.Ala98Gly)
|
rs1853462729
|
|
|
NM_024426.6(WT1):c.293C>T (p.Ala98Val)
|
rs1853462729
|
|
|
NM_024426.6(WT1):c.294C>T (p.Ala98=)
|
rs887998910
|
|
|
NM_024426.6(WT1):c.295C>G (p.Leu99Val)
|
|
|
|
NM_024426.6(WT1):c.296T>A (p.Leu99Gln)
|
rs1565001942
|
|
|
NM_024426.6(WT1):c.296T>C (p.Leu99Pro)
|
rs1565001942
|
|
|
NM_024426.6(WT1):c.298C>A (p.Pro100Thr)
|
rs567200038
|
|
|
NM_024426.6(WT1):c.298C>T (p.Pro100Ser)
|
rs567200038
|
|
|
NM_024426.6(WT1):c.299C>G (p.Pro100Arg)
|
|
|
|
NM_024426.6(WT1):c.301G>C (p.Val101Leu)
|
rs1853461708
|
|
|
NM_024426.6(WT1):c.303G>A (p.Val101=)
|
|
|
|
NM_024426.6(WT1):c.305G>A (p.Ser102Asn)
|
rs1210117032
|
|
|
NM_024426.6(WT1):c.306C>A (p.Ser102Arg)
|
|
|
|
NM_024426.6(WT1):c.307G>T (p.Gly103Cys)
|
rs1348287926
|
|
|
NM_024426.6(WT1):c.310G>A (p.Ala104Thr)
|
rs1853461168
|
|
|
NM_024426.6(WT1):c.311C>T (p.Ala104Val)
|
|
|
|
NM_024426.6(WT1):c.312G>A (p.Ala104=)
|
rs1590410376
|
|
|
NM_024426.6(WT1):c.312G>T (p.Ala104=)
|
|
|
|
NM_024426.6(WT1):c.313G>T (p.Ala105Ser)
|
rs1236417259
|
|
|
NM_024426.6(WT1):c.314_318dup (p.Trp107fs)
|
rs2133104877
|
|
|
NM_024426.6(WT1):c.315G>A (p.Ala105=)
|
rs1554946607
|
|
|
NM_024426.6(WT1):c.315G>T (p.Ala105=)
|
rs1554946607
|
|
|
NM_024426.6(WT1):c.319T>G (p.Trp107Gly)
|
rs1853460114
|
|
|
NM_024426.6(WT1):c.320G>T (p.Trp107Leu)
|
rs1009810769
|
|
|
NM_024426.6(WT1):c.322G>A (p.Ala108Thr)
|
|
|
|
NM_024426.6(WT1):c.324G>A (p.Ala108=)
|
rs1229643010
|
|
|
NM_024426.6(WT1):c.325C>G (p.Pro109Ala)
|
|
|
|
NM_024426.6(WT1):c.325C>T (p.Pro109Ser)
|
|
|
|
NM_024426.6(WT1):c.326C>A (p.Pro109Gln)
|
rs1853459569
|
|
|
NM_024426.6(WT1):c.329T>C (p.Val110Ala)
|
rs1853459284
|
|
|
NM_024426.6(WT1):c.32C>T (p.Ser11Phe)
|
|
|
|
NM_024426.6(WT1):c.330G>A (p.Val110=)
|
|
|
|
NM_024426.6(WT1):c.331C>T (p.Leu111=)
|
rs2133104719
|
|
|
NM_024426.6(WT1):c.332T>C (p.Leu111Pro)
|
|
|
|
NM_024426.6(WT1):c.334del (p.Asp112fs)
|
rs1554946600
|
|
|
NM_024426.6(WT1):c.336C>T (p.Asp112=)
|
rs2133104640
|
|
|
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr)
|
|
|
|
NM_024426.6(WT1):c.338T>C (p.Phe113Ser)
|
|
|
|
NM_024426.6(WT1):c.339T>C (p.Phe113=)
|
rs2133104617
|
|
|
NM_024426.6(WT1):c.33C>A (p.Ser11=)
|
|
|
|
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro)
|
rs2133107830
|
|
|
NM_024426.6(WT1):c.340G>A (p.Ala114Thr)
|
rs1590410300
|
|
|
NM_024426.6(WT1):c.341C>T (p.Ala114Val)
|
rs1311557029
|
|
|
NM_024426.6(WT1):c.342G>C (p.Ala114=)
|
rs1414764839
|
|
|
NM_024426.6(WT1):c.342G>T (p.Ala114=)
|
rs1414764839
|
|
|
NM_024426.6(WT1):c.343C>A (p.Pro115Thr)
|
rs916583720
|
|
|
NM_024426.6(WT1):c.344C>A (p.Pro115His)
|
rs1565001804
|
|
|
NM_024426.6(WT1):c.346C>A (p.Pro116Thr)
|
rs1554946595
|
|
|
NM_024426.6(WT1):c.347C>G (p.Pro116Arg)
|
|
|
|
NM_024426.6(WT1):c.347C>T (p.Pro116Leu)
|
rs886048229
|
|
|
NM_024426.6(WT1):c.348G>C (p.Pro116=)
|
|
|
|
NM_024426.6(WT1):c.34A>G (p.Thr12Ala)
|
|
|
|
NM_024426.6(WT1):c.351C>A (p.Gly117=)
|
|
|
|
NM_024426.6(WT1):c.351C>T (p.Gly117=)
|
rs1473590912
|
|
|
NM_024426.6(WT1):c.352G>A (p.Ala118Thr)
|
rs1253163678
|
|
|
NM_024426.6(WT1):c.356C>G (p.Ser119Trp)
|
rs1853456180
|
|
|
NM_024426.6(WT1):c.356C>T (p.Ser119Leu)
|
|
|
|
NM_024426.6(WT1):c.357G>T (p.Ser119=)
|
|
|
|
NM_024426.6(WT1):c.358G>A (p.Ala120Thr)
|
rs1590410151
|
|
|
NM_024426.6(WT1):c.35C>A (p.Thr12Lys)
|
|
|
|
NM_024426.6(WT1):c.35C>T (p.Thr12Met)
|
rs2133107793
|
|
|
NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)
|
|
|
|
NM_024426.6(WT1):c.363C>T (p.Tyr121=)
|
rs977632626
|
|
|
NM_024426.6(WT1):c.366G>T (p.Gly122=)
|
|
|
|
NM_024426.6(WT1):c.368C>A (p.Ser123Ter)
|
|
|
|
NM_024426.6(WT1):c.368C>T (p.Ser123Leu)
|
rs2133104248
|
|
|
NM_024426.6(WT1):c.369G>A (p.Ser123=)
|
rs1485992444
|
|
|
NM_024426.6(WT1):c.369G>T (p.Ser123=)
|
rs1485992444
|
|
|
NM_024426.6(WT1):c.36G>A (p.Thr12=)
|
|
|
|
NM_024426.6(WT1):c.36G>C (p.Thr12=)
|
|
|
|
NM_024426.6(WT1):c.370T>C (p.Leu124=)
|
|
|
|
NM_024426.6(WT1):c.372G>T (p.Leu124Phe)
|
|
|
|
NM_024426.6(WT1):c.376G>A (p.Gly126Ser)
|
rs1853454814
|
|
|
NM_024426.6(WT1):c.376G>C (p.Gly126Arg)
|
|
|
|
NM_024426.6(WT1):c.376G>T (p.Gly126Cys)
|
rs1853454814
|
|
|
NM_024426.6(WT1):c.377G>A (p.Gly126Asp)
|
|
|
|
NM_024426.6(WT1):c.377G>C (p.Gly126Ala)
|
rs2133104145
|
|
|
NM_024426.6(WT1):c.379C>A (p.Pro127Thr)
|
rs1554946578
|
|
|
NM_024426.6(WT1):c.379C>T (p.Pro127Ser)
|
|
|
|
NM_024426.6(WT1):c.380C>T (p.Pro127Leu)
|
|
|
|
NM_024426.6(WT1):c.381C>A (p.Pro127=)
|
rs771681406
|
|
|
NM_024426.6(WT1):c.381C>T (p.Pro127=)
|
rs771681406
|
|
|
NM_024426.6(WT1):c.382G>A (p.Ala128Thr)
|
rs1853454136
|
|
|
NM_024426.6(WT1):c.383C>A (p.Ala128Glu)
|
|
|
|
NM_024426.6(WT1):c.384G>A (p.Ala128=)
|
|
|
|
NM_024426.6(WT1):c.386C>T (p.Pro129Leu)
|
rs745435848
|
|
|
NM_024426.6(WT1):c.387G>T (p.Pro129=)
|
rs1590410053
|
|
|
NM_024426.6(WT1):c.388C>T (p.Pro130Ser)
|
rs1554946573
|
|
|
NM_024426.6(WT1):c.389C>T (p.Pro130Leu)
|
|
|
|
NM_024426.6(WT1):c.390A>G (p.Pro130=)
|
rs886048228
|
|
|
NM_024426.6(WT1):c.390_401dup (p.128APPP[3])
|
rs2133103848
|
|
|
NM_024426.6(WT1):c.391C>A (p.Pro131Thr)
|
|
|
|
NM_024426.6(WT1):c.391C>T (p.Pro131Ser)
|
rs564706633
|
|
|
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
|
|
|
|
NM_024426.6(WT1):c.393G>A (p.Pro131=)
|
rs1229890218
|
|
|
NM_024426.6(WT1):c.393G>C (p.Pro131=)
|
rs1229890218
|
|
|
NM_024426.6(WT1):c.393G>T (p.Pro131=)
|
rs1229890218
|
|
|
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del)
|
rs1853451296
|
|
|
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup)
|
rs1853451296
|
|
|
NM_024426.6(WT1):c.394G>T (p.Ala132Ser)
|
|
|
|
NM_024426.6(WT1):c.395C>G (p.Ala132Gly)
|
|
|
|
NM_024426.6(WT1):c.397C>T (p.Pro133Ser)
|
rs1202603651
|
|
|
NM_024426.6(WT1):c.398C>A (p.Pro133Gln)
|
|
|
|
NM_024426.6(WT1):c.399G>T (p.Pro133=)
|
rs2133103876
|
|
|
NM_024426.6(WT1):c.400C>T (p.Pro134Ser)
|
rs2133103862
|
|
|
NM_024426.6(WT1):c.401C>G (p.Pro134Arg)
|
rs748974419
|
|
|
NM_024426.6(WT1):c.401C>T (p.Pro134Leu)
|
|
|
|
NM_024426.6(WT1):c.402G>A (p.Pro134=)
|
rs777527675
|
|
|
NM_024426.6(WT1):c.402G>T (p.Pro134=)
|
|
|
|
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro)
|
|
|
|
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup)
|
rs1469499452
|
|
|
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del)
|
rs2133103594
|
|
|
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup)
|
rs1853449457
|
|
|
NM_024426.6(WT1):c.406C>T (p.Pro136Ser)
|
|
|
|
NM_024426.6(WT1):c.408C>A (p.Pro136=)
|
|
|
|
NM_024426.6(WT1):c.408C>T (p.Pro136=)
|
|
|
|
NM_024426.6(WT1):c.409C>G (p.Pro137Ala)
|
rs1853451078
|
|
|
NM_024426.6(WT1):c.40G>C (p.Val14Leu)
|
|
|
|
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)
|
rs760304811
|
|
|
NM_024426.6(WT1):c.413C>A (p.Pro138Gln)
|
rs1853450493
|
|
|
NM_024426.6(WT1):c.413C>G (p.Pro138Arg)
|
rs1853450493
|
|
|
NM_024426.6(WT1):c.413C>T (p.Pro138Leu)
|
|
|
|
NM_024426.6(WT1):c.414G>A (p.Pro138=)
|
|
|
|
NM_024426.6(WT1):c.416C>A (p.Pro139Gln)
|
|
|
|
NM_024426.6(WT1):c.416C>G (p.Pro139Arg)
|
rs878855085
|
|
|
NM_024426.6(WT1):c.417G>T (p.Pro139=)
|
rs758361767
|
|
|
NM_024426.6(WT1):c.420G>T (p.Pro140=)
|
|
|
|
NM_024426.6(WT1):c.422C>T (p.Pro141Leu)
|
|
|
|
NM_024426.6(WT1):c.423T>G (p.Pro141=)
|
|
|
|
NM_024426.6(WT1):c.424C>T (p.His142Tyr)
|
|
|
|
NM_024426.6(WT1):c.425A>C (p.His142Pro)
|
rs1565001515
|
|
|
NM_024426.6(WT1):c.425A>T (p.His142Leu)
|
rs1565001515
|
|
|
NM_024426.6(WT1):c.426C>G (p.His142Gln)
|
rs1183359726
|
|
|
NM_024426.6(WT1):c.427T>C (p.Ser143Pro)
|
rs778937284
|
|
|
NM_024426.6(WT1):c.428C>G (p.Ser143Cys)
|
|
|
|
NM_024426.6(WT1):c.429C>T (p.Ser143=)
|
rs531076591
|
|
|
NM_024426.6(WT1):c.42C>T (p.Val14=)
|
rs1343194102
|
|
|
NM_024426.6(WT1):c.430_432del (p.Phe144del)
|
|
|
|
NM_024426.6(WT1):c.433A>G (p.Ile145Val)
|
rs2133103410
|
|
|
NM_024426.6(WT1):c.441G>A (p.Gln147=)
|
|
|
|
NM_024426.6(WT1):c.445C>T (p.Pro149Ser)
|
rs1554946517
|
|
|
NM_024426.6(WT1):c.446C>A (p.Pro149Gln)
|
rs1853447771
|
|
|
NM_024426.6(WT1):c.446C>G (p.Pro149Arg)
|
rs1853447771
|
|
|
NM_024426.6(WT1):c.447G>A (p.Pro149=)
|
|
|
|
NM_024426.6(WT1):c.448A>G (p.Ser150Gly)
|
rs1853447534
|
|
|
NM_024426.6(WT1):c.449G>A (p.Ser150Asn)
|
rs1853447426
|
|
|
NM_024426.6(WT1):c.449G>T (p.Ser150Ile)
|
|
|
|
NM_024426.6(WT1):c.44C>T (p.Pro15Leu)
|
rs2133107749
|
|
|
NM_024426.6(WT1):c.450C>A (p.Ser150Arg)
|
rs1213710686
|
|
|
NM_024426.6(WT1):c.450C>T (p.Ser150=)
|
rs1213710686
|
|
|
NM_024426.6(WT1):c.451T>A (p.Trp151Arg)
|
rs1853446972
|
|
|
NM_024426.6(WT1):c.453G>A (p.Trp151Ter)
|
|
|
|
NM_024426.6(WT1):c.455G>A (p.Gly152Asp)
|
rs1853446628
|
|
|
NM_024426.6(WT1):c.455del (p.Gly152fs)
|
rs2133103216
|
|
|
NM_024426.6(WT1):c.456C>A (p.Gly152=)
|
rs2133103187
|
|
|
NM_024426.6(WT1):c.456C>T (p.Gly152=)
|
rs2133103187
|
|
|
NM_024426.6(WT1):c.45G>A (p.Pro15=)
|
rs1158182061
|
|
|
NM_024426.6(WT1):c.462G>A (p.Ala154=)
|
rs2133103125
|
|
|
NM_024426.6(WT1):c.463G>A (p.Glu155Lys)
|
rs1853446395
|
|
|
NM_024426.6(WT1):c.465G>A (p.Glu155=)
|
rs1590409614
|
|
|
NM_024426.6(WT1):c.466C>T (p.Pro156Ser)
|
rs1353428791
|
|
|
NM_024426.6(WT1):c.467C>A (p.Pro156Gln)
|
rs1225927150
|
|
|
NM_024426.6(WT1):c.467C>T (p.Pro156Leu)
|
rs1225927150
|
|
|
NM_024426.6(WT1):c.468G>A (p.Pro156=)
|
rs961309280
|
|
|
NM_024426.6(WT1):c.46G>A (p.Glu16Lys)
|
rs2133107724
|
|
|
NM_024426.6(WT1):c.471C>A (p.His157Gln)
|
rs753238865
|
|
|
NM_024426.6(WT1):c.471C>G (p.His157Gln)
|
rs753238865
|
|
|
NM_024426.6(WT1):c.471C>T (p.His157=)
|
rs753238865
|
|
|
NM_024426.6(WT1):c.472G>A (p.Glu158Lys)
|
rs1565001383
|
|
|
NM_024426.6(WT1):c.472G>C (p.Glu158Gln)
|
rs1565001383
|
|
|
NM_024426.6(WT1):c.474G>A (p.Glu158=)
|
rs997224171
|
|
|
NM_024426.6(WT1):c.476A>G (p.Glu159Gly)
|
|
|
|
NM_024426.6(WT1):c.477G>A (p.Glu159=)
|
rs2133102935
|
|
|
NM_024426.6(WT1):c.477G>C (p.Glu159Asp)
|
rs2133102935
|
|
|
NM_024426.6(WT1):c.478C>G (p.Gln160Glu)
|
rs1554946500
|
|
|
NM_024426.6(WT1):c.478C>T (p.Gln160Ter)
|
rs1554946500
|
|
|
NM_024426.6(WT1):c.480G>C (p.Gln160His)
|
rs758900425
|
|
|
NM_024426.6(WT1):c.481T>G (p.Cys161Gly)
|
|
|
|
NM_024426.6(WT1):c.482G>T (p.Cys161Phe)
|
rs1201988298
|
|
|
NM_024426.6(WT1):c.483C>T (p.Cys161=)
|
|
|
|
NM_024426.6(WT1):c.484C>T (p.Leu162=)
|
|
|
|
NM_024426.6(WT1):c.488G>A (p.Ser163Asn)
|
rs1853444119
|
|
|
NM_024426.6(WT1):c.489C>G (p.Ser163Arg)
|
|
|
|
NM_024426.6(WT1):c.489C>T (p.Ser163=)
|
rs908414065
|
|
|
NM_024426.6(WT1):c.48G>A (p.Glu16=)
|
|
|
|
NM_024426.6(WT1):c.490G>C (p.Ala164Pro)
|
rs986597775
|
|
|
NM_024426.6(WT1):c.496A>G (p.Thr166Ala)
|
rs1853443725
|
|
|
NM_024426.6(WT1):c.497C>G (p.Thr166Ser)
|
|
|
|
NM_024426.6(WT1):c.498T>C (p.Thr166=)
|
rs1554946487
|
|
|
NM_024426.6(WT1):c.49C>T (p.Pro17Ser)
|
|
|
|
NM_024426.6(WT1):c.500T>C (p.Val167Ala)
|
|
|
|
NM_024426.6(WT1):c.503A>G (p.His168Arg)
|
rs762660918
|
|
|
NM_024426.6(WT1):c.505T>C (p.Phe169Leu)
|
rs2133102637
|
|
|
NM_024426.6(WT1):c.506T>C (p.Phe169Ser)
|
|
|
|
NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs)
|
|
|
|
NM_024426.6(WT1):c.50C>T (p.Pro17Leu)
|
rs1853481697
|
|
|
NM_024426.6(WT1):c.510C>G (p.Ser170=)
|
rs772890986
|
|
|
NM_024426.6(WT1):c.511G>C (p.Gly171Arg)
|
|
|
|
NM_024426.6(WT1):c.512G>T (p.Gly171Val)
|
rs1554946480
|
|
|
NM_024426.6(WT1):c.513C>T (p.Gly171=)
|
|
|
|
NM_024426.6(WT1):c.514C>T (p.Gln172Ter)
|
|
|
|
NM_024426.6(WT1):c.519C>A (p.Phe173Leu)
|
|
|
|
NM_024426.6(WT1):c.51G>A (p.Pro17=)
|
rs1590411695
|
|
|
NM_024426.6(WT1):c.51G>C (p.Pro17=)
|
rs1590411695
|
|
|
NM_024426.6(WT1):c.520A>G (p.Thr174Ala)
|
rs955122145
|
|
|
NM_024426.6(WT1):c.522T>C (p.Thr174=)
|
rs747958111
|
|
|
NM_024426.6(WT1):c.524G>A (p.Gly175Asp)
|
rs1853442286
|
|
|
NM_024426.6(WT1):c.527C>T (p.Thr176Ile)
|
rs1853442157
|
|
|
NM_024426.6(WT1):c.529G>T (p.Ala177Ser)
|
|
|
|
NM_024426.6(WT1):c.52G>C (p.Ala18Pro)
|
rs1590411684
|
|
|
NM_024426.6(WT1):c.52G>T (p.Ala18Ser)
|
|
|
|
NM_024426.6(WT1):c.531C>G (p.Ala177=)
|
rs1354094843
|
|
|
NM_024426.6(WT1):c.532G>A (p.Gly178Arg)
|
|
|
|
NM_024426.6(WT1):c.533G>A (p.Gly178Glu)
|
|
|
|
NM_024426.6(WT1):c.534A>G (p.Gly178=)
|
|
|
|
NM_024426.6(WT1):c.535G>A (p.Ala179Thr)
|
rs2133102397
|
|
|
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr)
|
|
|
|
NM_024426.6(WT1):c.53C>A (p.Ala18Glu)
|
|
|
|
NM_024426.6(WT1):c.541C>A (p.Arg181Ser)
|
rs1565001278
|
|
|
NM_024426.6(WT1):c.541C>G (p.Arg181Gly)
|
|
|
|
NM_024426.6(WT1):c.542G>C (p.Arg181Pro)
|
rs1853441270
|
|
|
NM_024426.6(WT1):c.543C>T (p.Arg181=)
|
rs369870529
|
|
|
NM_024426.6(WT1):c.544T>C (p.Tyr182His)
|
|
|
|
NM_024426.6(WT1):c.546C>T (p.Tyr182=)
|
|
|
|
NM_024426.6(WT1):c.547G>C (p.Gly183Arg)
|
rs1462705405
|
|
|
NM_024426.6(WT1):c.548G>A (p.Gly183Glu)
|
rs1060501256
|
|
|
NM_024426.6(WT1):c.549G>T (p.Gly183=)
|
rs1199167878
|
|
|
NM_024426.6(WT1):c.553T>G (p.Phe185Val)
|
|
|
|
NM_024426.6(WT1):c.554T>G (p.Phe185Cys)
|
|
|
|
NM_024426.6(WT1):c.555C>G (p.Phe185Leu)
|
|
|
|
NM_024426.6(WT1):c.555C>T (p.Phe185=)
|
rs1554946465
|
|
|
NM_024426.6(WT1):c.556G>A (p.Gly186Ser)
|
rs768644520
|
|
|
NM_024426.6(WT1):c.557G>A (p.Gly186Asp)
|
|
|
|
NM_024426.6(WT1):c.561T>C (p.Pro187=)
|
rs2133102109
|
|
|
NM_024426.6(WT1):c.563C>T (p.Pro188Leu)
|
rs2133102091
|
|
|
NM_024426.6(WT1):c.564T>A (p.Pro188=)
|
rs1060504178
|
|
|
NM_024426.6(WT1):c.565C>G (p.Pro189Ala)
|
rs1853439331
|
|
|
NM_024426.6(WT1):c.565C>T (p.Pro189Ser)
|
rs1853439331
|
|
|
NM_024426.6(WT1):c.566C>A (p.Pro189Gln)
|
|
|
|
NM_024426.6(WT1):c.566C>G (p.Pro189Arg)
|
rs745879965
|
|
|
NM_024426.6(WT1):c.567G>A (p.Pro189=)
|
|
|
|
NM_024426.6(WT1):c.569C>T (p.Pro190Leu)
|
rs757349907
|
|
|
NM_024426.6(WT1):c.56C>G (p.Ser19Cys)
|
|
|
|
NM_024426.6(WT1):c.570C>T (p.Pro190=)
|
|
|
|
NM_024426.6(WT1):c.572G>C (p.Ser191Thr)
|
rs2133101967
|
|
|
NM_024426.6(WT1):c.575A>G (p.Gln192Arg)
|
rs1853438394
|
|
|
NM_024426.6(WT1):c.577G>A (p.Ala193Thr)
|
rs1590409175
|
|
|
NM_024426.6(WT1):c.577G>C (p.Ala193Pro)
|
rs1590409175
|
|
|
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer)
|
|
|
|
NM_024426.6(WT1):c.578C>A (p.Ala193Glu)
|
|
|
|
NM_024426.6(WT1):c.578C>G (p.Ala193Gly)
|
rs572926487
|
|
|
NM_024426.6(WT1):c.578C>T (p.Ala193Val)
|
|
|
|
NM_024426.6(WT1):c.579G>A (p.Ala193=)
|
rs2133101885
|
|
|
NM_024426.6(WT1):c.581C>T (p.Ser194Leu)
|
rs2133101846
|
|
|
NM_024426.6(WT1):c.582A>C (p.Ser194=)
|
rs1302907380
|
|
|
NM_024426.6(WT1):c.582A>T (p.Ser194=)
|
rs1302907380
|
|
|
NM_024426.6(WT1):c.583T>G (p.Ser195Ala)
|
|
|
|
NM_024426.6(WT1):c.584C>T (p.Ser195Phe)
|
rs778194188
|
|
|
NM_024426.6(WT1):c.589C>A (p.Gln197Lys)
|
rs2133101720
|
|
|
NM_024426.6(WT1):c.590A>G (p.Gln197Arg)
|
rs1853436737
|
|
|
NM_024426.6(WT1):c.591G>T (p.Gln197His)
|
rs767850217
|
|
|
NM_024426.6(WT1):c.593C>T (p.Ala198Val)
|
rs1853436133
|
|
|
NM_024426.6(WT1):c.597G>A (p.Arg199=)
|
rs762418497
|
|
|
NM_024426.6(WT1):c.598A>G (p.Met200Val)
|
|
|
|
NM_024426.6(WT1):c.598A>T (p.Met200Leu)
|
rs1853435610
|
|
|
NM_024426.6(WT1):c.599T>G (p.Met200Arg)
|
rs2133101589
|
|
|
NM_024426.6(WT1):c.59A>T (p.Gln20Leu)
|
|
|
|
NM_024426.6(WT1):c.600G>A (p.Met200Ile)
|
rs1060501257
|
|
|
NM_024426.6(WT1):c.604C>T (p.Pro202Ser)
|
rs1853435385
|
|
|
NM_024426.6(WT1):c.609C>A (p.Asn203Lys)
|
|
|
|
NM_024426.6(WT1):c.609C>G (p.Asn203Lys)
|
rs2234583
|
|
|
NM_024426.6(WT1):c.611C>T (p.Ala204Val)
|
rs1277548839
|
|
|
NM_024426.6(WT1):c.612G>A (p.Ala204=)
|
|
|
|
NM_024426.6(WT1):c.612G>T (p.Ala204=)
|
rs2133101498
|
|
|
NM_024426.6(WT1):c.616T>C (p.Tyr206His)
|
|
|
|
NM_024426.6(WT1):c.618C>T (p.Tyr206=)
|
rs1853434598
|
|
|
NM_024426.6(WT1):c.624C>T (p.Pro208=)
|
|
|
|
NM_024426.6(WT1):c.62A>G (p.His21Arg)
|
rs1853481014
|
|
|
NM_024426.6(WT1):c.62A>T (p.His21Leu)
|
rs1853481014
|
|
|
NM_024426.6(WT1):c.630C>T (p.Cys210=)
|
rs1590408912
|
|
|
NM_024426.6(WT1):c.631C>T (p.Leu211Phe)
|
rs1853433365
|
|
|
NM_024426.6(WT1):c.633C>G (p.Leu211=)
|
rs576677344
|
|
|
NM_024426.6(WT1):c.633C>T (p.Leu211=)
|
rs576677344
|
|
|
NM_024426.6(WT1):c.635A>G (p.Glu212Gly)
|
rs2133101294
|
|
|
NM_024426.6(WT1):c.636G>C (p.Glu212Asp)
|
|
|
|
NM_024426.6(WT1):c.638G>A (p.Ser213Asn)
|
rs746964440
|
|
|
NM_024426.6(WT1):c.639C>A (p.Ser213Arg)
|
|
|
|
NM_024426.6(WT1):c.63C>T (p.His21=)
|
rs2133107593
|
|
|
NM_024426.6(WT1):c.640C>T (p.Gln214Ter)
|
|
|
|
NM_024426.6(WT1):c.643C>A (p.Pro215Thr)
|
|
|
|
NM_024426.6(WT1):c.645C>A (p.Pro215=)
|
|
|
|
NM_024426.6(WT1):c.645C>G (p.Pro215=)
|
rs749405227
|
|
|
NM_024426.6(WT1):c.645C>T (p.Pro215=)
|
|
|
|
NM_024426.6(WT1):c.648_654dup (p.Asn219fs)
|
|
|
|
NM_024426.6(WT1):c.649A>C (p.Ile217Leu)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.649A>G (p.Ile217Val)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.649A>T (p.Ile217Phe)
|
rs1384974578
|
|
|
NM_024426.6(WT1):c.64A>G (p.Thr22Ala)
|
rs2133107584
|
|
|
NM_024426.6(WT1):c.652C>A (p.Arg218Ser)
|
rs2133101131
|
|
|
NM_024426.6(WT1):c.652C>T (p.Arg218Cys)
|
|
|
|
NM_024426.6(WT1):c.653G>A (p.Arg218His)
|
rs756414084
|
|
|
NM_024426.6(WT1):c.653G>T (p.Arg218Leu)
|
rs756414084
|
|
|
NM_024426.6(WT1):c.653del (p.Arg218fs)
|
rs1565000973
|
|
|
NM_024426.6(WT1):c.654C>T (p.Arg218=)
|
|
|
|
NM_024426.6(WT1):c.655A>C (p.Asn219His)
|
rs748435329
|
|
|
NM_024426.6(WT1):c.656A>G (p.Asn219Ser)
|
|
|
|
NM_024426.6(WT1):c.659A>G (p.Gln220Arg)
|
rs1554946409
|
|
|
NM_024426.6(WT1):c.659A>T (p.Gln220Leu)
|
rs1554946409
|
|
|
NM_024426.6(WT1):c.660G>A (p.Gln220=)
|
|
|
|
NM_024426.6(WT1):c.661+10C>T
|
rs1853430393
|
|
|
NM_024426.6(WT1):c.661+11C>A
|
|
|
|
NM_024426.6(WT1):c.661+11del
|
rs778200475
|
|
|
NM_024426.6(WT1):c.661+12G>A
|
|
|
|
NM_024426.6(WT1):c.661+12G>C
|
|
|
|
NM_024426.6(WT1):c.661+13G>A
|
rs1405273217
|
|
|
NM_024426.6(WT1):c.661+13G>C
|
rs1405273217
|
|
|
NM_024426.6(WT1):c.661+14G>A
|
|
|
|
NM_024426.6(WT1):c.661+15G>T
|
rs1362460137
|
|
|
NM_024426.6(WT1):c.661+17G>T
|
|
|
|
NM_024426.6(WT1):c.661+18C>T
|
rs369162648
|
|
|
NM_024426.6(WT1):c.661+19G>A
|
rs1413587778
|
|
|
NM_024426.6(WT1):c.661+3A>G
|
|
|
|
NM_024426.6(WT1):c.661+7A>G
|
rs538357126
|
|
|
NM_024426.6(WT1):c.661+9G>A
|
rs755336626
|
|
|
NM_024426.6(WT1):c.661+9G>T
|
rs755336626
|
|
|
NM_024426.6(WT1):c.661+9del
|
|
|
|
NM_024426.6(WT1):c.661G>A (p.Gly221Ser)
|
|
|
|
NM_024426.6(WT1):c.661G>T (p.Gly221Cys)
|
|
|
|
NM_024426.6(WT1):c.662-10G>T
|
rs1554945255
|
|
|
NM_024426.6(WT1):c.662-11C>T
|
|
|
|
NM_024426.6(WT1):c.662-12C>A
|
rs2133076430
|
|
|
NM_024426.6(WT1):c.662-13G>A
|
|
|
|
NM_024426.6(WT1):c.662-16T>A
|
|
|
|
NM_024426.6(WT1):c.662-3C>T
|
rs1853152059
|
|
|
NM_024426.6(WT1):c.662-4G>A
|
rs938242205
|
|
|
NM_024426.6(WT1):c.662-4G>T
|
rs938242205
|
|
|
NM_024426.6(WT1):c.662-7C>T
|
|
|
|
NM_024426.6(WT1):c.662G>T (p.Gly221Val)
|
|
|
|
NM_024426.6(WT1):c.664T>C (p.Tyr222His)
|
rs746367691
|
|
|
NM_024426.6(WT1):c.666C>T (p.Tyr222=)
|
rs1590396134
|
|
|
NM_024426.6(WT1):c.667A>G (p.Ser223Gly)
|
|
|
|
NM_024426.6(WT1):c.66G>T (p.Thr22=)
|
rs1214646426
|
|
|
NM_024426.6(WT1):c.670A>T (p.Thr224Ser)
|
rs1554945246
|
|
|
NM_024426.6(WT1):c.671C>T (p.Thr224Met)
|
rs779451877
|
|
|
NM_024426.6(WT1):c.672G>A (p.Thr224=)
|
rs756695525
|
|
|
NM_024426.6(WT1):c.672G>T (p.Thr224=)
|
rs756695525
|
|
|
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
|
|
|
|
NM_024426.6(WT1):c.676A>C (p.Thr226Pro)
|
rs1853150433
|
|
|
NM_024426.6(WT1):c.677C>A (p.Thr226Asn)
|
rs556804456
|
|
|
NM_024426.6(WT1):c.677C>T (p.Thr226Ile)
|
rs556804456
|
|
|
NM_024426.6(WT1):c.678C>G (p.Thr226=)
|
|
|
|
NM_024426.6(WT1):c.678C>T (p.Thr226=)
|
|
|
|
NM_024426.6(WT1):c.67C>T (p.Leu23Phe)
|
rs2133107546
|
|
|
NM_024426.6(WT1):c.680T>C (p.Phe227Ser)
|
rs1554945235
|
|
|
NM_024426.6(WT1):c.682G>A (p.Asp228Asn)
|
rs1193052708
|
|
|
NM_024426.6(WT1):c.682dup (p.Asp228fs)
|
rs1554945232
|
|
|
NM_024426.6(WT1):c.685G>C (p.Gly229Arg)
|
rs767419243
|
|
|
NM_024426.6(WT1):c.689C>A (p.Thr230Lys)
|
|
|
|
NM_024426.6(WT1):c.689C>G (p.Thr230Arg)
|
rs777166391
|
|
|
NM_024426.6(WT1):c.690G>A (p.Thr230=)
|
rs1277854204
|
|
|
NM_024426.6(WT1):c.690G>T (p.Thr230=)
|
|
|
|
NM_024426.6(WT1):c.690_691delinsTT (p.Pro231Ser)
|
rs1853148368
|
|
|
NM_024426.6(WT1):c.691C>G (p.Pro231Ala)
|
rs766425764
|
|
|
NM_024426.6(WT1):c.693C>T (p.Pro231=)
|
|
|
|
NM_024426.6(WT1):c.694A>G (p.Ser232Gly)
|
|
|
|
NM_024426.6(WT1):c.694_699dup (p.Tyr233_Gly234insSerTyr)
|
rs1853147640
|
|
|
NM_024426.6(WT1):c.695G>C (p.Ser232Thr)
|
rs761913397
|
|
|
NM_024426.6(WT1):c.698A>G (p.Tyr233Cys)
|
|
|
|
NM_024426.6(WT1):c.699C>T (p.Tyr233=)
|
rs1349302999
|
|
|
NM_024426.6(WT1):c.700G>C (p.Gly234Arg)
|
rs1307992683
|
|
|
NM_024426.6(WT1):c.700G>T (p.Gly234Cys)
|
rs1307992683
|
|
|
NM_024426.6(WT1):c.705C>T (p.His235=)
|
|
|
|
NM_024426.6(WT1):c.707C>T (p.Thr236Met)
|
rs1372808262
|
|
|
NM_024426.6(WT1):c.708G>A (p.Thr236=)
|
rs768828897
|
|
|
NM_024426.6(WT1):c.708G>C (p.Thr236=)
|
|
|
|
NM_024426.6(WT1):c.709C>T (p.Pro237Ser)
|
rs2133075717
|
|
|
NM_024426.6(WT1):c.70C>A (p.Arg24Ser)
|
|
|
|
NM_024426.6(WT1):c.718C>T (p.His240Tyr)
|
rs2133075605
|
|
|
NM_024426.6(WT1):c.719A>G (p.His240Arg)
|
rs886932571
|
|
|
NM_024426.6(WT1):c.719A>T (p.His240Leu)
|
rs886932571
|
|
|
NM_024426.6(WT1):c.71G>C (p.Arg24Pro)
|
|
|
|
NM_024426.6(WT1):c.721G>A (p.Ala241Thr)
|
rs1853145802
|
|
|
NM_024426.6(WT1):c.722C>T (p.Ala241Val)
|
rs1190263054
|
|
|
NM_024426.6(WT1):c.723G>C (p.Ala241=)
|
|
|
|
NM_024426.6(WT1):c.725C>T (p.Ala242Val)
|
rs1853145265
|
|
|
NM_024426.6(WT1):c.726G>T (p.Ala242=)
|
rs1473494675
|
|
|
NM_024426.6(WT1):c.729G>A (p.Gln243=)
|
|
|
|
NM_024426.6(WT1):c.730T>C (p.Phe244Leu)
|
rs771455202
|
|
|
NM_024426.6(WT1):c.733C>T (p.Pro245Ser)
|
rs2133075412
|
|
|
NM_024426.6(WT1):c.738C>T (p.Asn246=)
|
rs2133075363
|
|
|
NM_024426.6(WT1):c.73T>C (p.Ser25Pro)
|
|
|
|
NM_024426.6(WT1):c.740A>G (p.His247Arg)
|
rs749860238
|
|
|
NM_024426.6(WT1):c.740A>T (p.His247Leu)
|
rs749860238
|
|
|
NM_024426.6(WT1):c.742T>G (p.Ser248Ala)
|
|
|
|
NM_024426.6(WT1):c.744A>G (p.Ser248=)
|
rs2133075308
|
|
|
NM_024426.6(WT1):c.745T>A (p.Phe249Ile)
|
rs2133075297
|
|
|
NM_024426.6(WT1):c.746T>G (p.Phe249Cys)
|
rs777119782
|
|
|
NM_024426.6(WT1):c.747C>G (p.Phe249Leu)
|
rs1060501259
|
|
|
NM_024426.6(WT1):c.750G>A (p.Lys250=)
|
rs1853143486
|
|
|
NM_024426.6(WT1):c.752A>G (p.His251Arg)
|
rs914029023
|
|
|
NM_024426.6(WT1):c.752A>T (p.His251Leu)
|
rs914029023
|
|
|
NM_024426.6(WT1):c.756G>A (p.Glu252=)
|
rs1406109697
|
|
|
NM_024426.6(WT1):c.757G>A (p.Asp253Asn)
|
rs1853142313
|
|
|
NM_024426.6(WT1):c.758A>T (p.Asp253Val)
|
|
|
|
NM_024426.6(WT1):c.75C>G (p.Ser25=)
|
rs1417997475
|
|
|
NM_024426.6(WT1):c.760C>A (p.Pro254Thr)
|
rs2234584
|
|
|
NM_024426.6(WT1):c.763A>C (p.Met255Leu)
|
rs142653301
|
|
|
NM_024426.6(WT1):c.763A>T (p.Met255Leu)
|
rs142653301
|
|
|
NM_024426.6(WT1):c.764T>A (p.Met255Lys)
|
rs377573993
|
|
|
NM_024426.6(WT1):c.765G>C (p.Met255Ile)
|
rs1060501255
|
|
|
NM_024426.6(WT1):c.765G>T (p.Met255Ile)
|
rs1060501255
|
|
|
NM_024426.6(WT1):c.767G>A (p.Gly256Asp)
|
|
|
|
NM_024426.6(WT1):c.767G>T (p.Gly256Val)
|
rs1554945190
|
|
|
NM_024426.6(WT1):c.76G>C (p.Gly26Arg)
|
rs1189241211
|
|
|
NM_024426.6(WT1):c.771G>A (p.Gln257=)
|
rs1853140764
|
|
|
NM_024426.6(WT1):c.773A>G (p.Gln258Arg)
|
rs1853140674
|
|
|
NM_024426.6(WT1):c.774G>A (p.Gln258=)
|
|
|
|
NM_024426.6(WT1):c.774G>C (p.Gln258His)
|
rs1853140429
|
|
|
NM_024426.6(WT1):c.776G>A (p.Gly259Asp)
|
rs1311184469
|
|
|
NM_024426.6(WT1):c.777C>A (p.Gly259=)
|
rs1395854761
|
|
|
NM_024426.6(WT1):c.780G>A (p.Ser260=)
|
rs1403311573
|
|
|
NM_024426.6(WT1):c.780G>C (p.Ser260=)
|
rs1403311573
|
|
|
NM_024426.6(WT1):c.781C>G (p.Leu261Val)
|
|
|
|
NM_024426.6(WT1):c.783G>A (p.Leu261=)
|
rs2133074898
|
|
|
NM_024426.6(WT1):c.784+10C>A
|
rs1554945172
|
|
|
NM_024426.6(WT1):c.784+13A>G
|
rs2133074798
|
|
|
NM_024426.6(WT1):c.784+15C>G
|
|
|
|
NM_024426.6(WT1):c.784+15C>T
|
rs1160084869
|
|
|
NM_024426.6(WT1):c.784+20T>C
|
|
|
|
NM_024426.6(WT1):c.784+5G>A
|
|
|
|
NM_024426.6(WT1):c.784+6C>T
|
rs1455790542
|
|
|
NM_024426.6(WT1):c.784+7G>C
|
rs1033235205
|
|
|
NM_024426.6(WT1):c.784+7G>T
|
rs1033235205
|
|
|
NM_024426.6(WT1):c.784+7del
|
rs2133074842
|
|
|
NM_024426.6(WT1):c.784G>T (p.Gly262Cys)
|
|
|
|
NM_024426.6(WT1):c.785-10C>T
|
rs2133073171
|
|
|
NM_024426.6(WT1):c.785-14G>A
|
rs375514482
|
|
|
NM_024426.6(WT1):c.785-14G>C
|
rs375514482
|
|
|
NM_024426.6(WT1):c.785-14G>T
|
rs375514482
|
|
|
NM_024426.6(WT1):c.785-15C>T
|
|
|
|
NM_024426.6(WT1):c.785-17T>G
|
|
|
|
NM_024426.6(WT1):c.785-19T>A
|
|
|
|
NM_024426.6(WT1):c.785-20G>A
|
|
|
|
NM_024426.6(WT1):c.785-3C>T
|
rs1590394595
|
|
|
NM_024426.6(WT1):c.785-6C>T
|
rs2133073137
|
|
|
NM_024426.6(WT1):c.785-7T>C
|
rs758280375
|
|
|
NM_024426.6(WT1):c.785-7T>G
|
rs758280375
|
|
|
NM_024426.6(WT1):c.785-8C>A
|
rs1204125933
|
|
|
NM_024426.6(WT1):c.786T>C (p.Gly262=)
|
|
|
|
NM_024426.6(WT1):c.789G>A (p.Glu263=)
|
rs878855087
|
|
|
NM_024426.6(WT1):c.791A>C (p.Gln264Pro)
|
|
|
|
NM_024426.6(WT1):c.798C>G (p.Tyr266Ter)
|
rs2133073037
|
|
|
NM_024426.6(WT1):c.798C>T (p.Tyr266=)
|
rs2133073037
|
|
|
NM_024426.6(WT1):c.799T>G (p.Ser267Ala)
|
|
|
|
NM_024426.6(WT1):c.800C>T (p.Ser267Leu)
|
rs2133073025
|
|
|
NM_024426.6(WT1):c.801G>A (p.Ser267=)
|
|
|
|
NM_024426.6(WT1):c.804G>A (p.Val268=)
|
rs1060504179
|
|
|
NM_024426.6(WT1):c.806C>T (p.Pro269Leu)
|
rs756078681
|
|
|
NM_024426.6(WT1):c.809C>T (p.Pro270Leu)
|
rs1853120541
|
|
|
NM_024426.6(WT1):c.812C>A (p.Pro271Gln)
|
|
|
|
NM_024426.6(WT1):c.812del (p.Pro271fs)
|
rs1060501253
|
|
|
NM_024426.6(WT1):c.816C>A (p.Val272=)
|
rs536750501
|
|
|
NM_024426.6(WT1):c.816C>G (p.Val272=)
|
|
|
|
NM_024426.6(WT1):c.820G>A (p.Gly274Ser)
|
|
|
|
NM_024426.6(WT1):c.825C>G (p.Cys275Trp)
|
rs200222400
|
|
|
NM_024426.6(WT1):c.825C>T (p.Cys275=)
|
|
|
|
NM_024426.6(WT1):c.830C>A (p.Thr277Asn)
|
rs138073760
|
|
|
NM_024426.6(WT1):c.834C>G (p.Pro278=)
|
rs2133072527
|
|
|
NM_024426.6(WT1):c.834del (p.Thr279fs)
|
|
|
|
NM_024426.6(WT1):c.836C>T (p.Thr279Ile)
|
|
|
|
NM_024426.6(WT1):c.837C>T (p.Thr279=)
|
rs747613465
|
|
|
NM_024426.6(WT1):c.840C>G (p.Asp280Glu)
|
|
|
|
NM_024426.6(WT1):c.842G>C (p.Ser281Thr)
|
|
|
|
NM_024426.6(WT1):c.845G>T (p.Cys282Phe)
|
|
|
|
NM_024426.6(WT1):c.848C>T (p.Thr283Ile)
|
rs776258782
|
|
|
NM_024426.6(WT1):c.849C>A (p.Thr283=)
|
rs145425799
|
|
|
NM_024426.6(WT1):c.849C>G (p.Thr283=)
|
|
|
|
NM_024426.6(WT1):c.84G>C (p.Gly28=)
|
|
|
|
NM_024426.6(WT1):c.854G>A (p.Ser285Asn)
|
rs779813097
|
|
|
NM_024426.6(WT1):c.854G>C (p.Ser285Thr)
|
rs779813097
|
|
|
NM_024426.6(WT1):c.855C>A (p.Ser285Arg)
|
rs1320428764
|
|
|
NM_024426.6(WT1):c.855C>T (p.Ser285=)
|
rs1320428764
|
|
|
NM_024426.6(WT1):c.857A>C (p.Gln286Pro)
|
rs2133072249
|
|
|
NM_024426.6(WT1):c.859G>C (p.Ala287Pro)
|
rs368452754
|
|
|
NM_024426.6(WT1):c.865C>T (p.Leu289=)
|
rs1554945037
|
|
|
NM_024426.6(WT1):c.866T>C (p.Leu289Pro)
|
rs2133072199
|
|
|
NM_024426.6(WT1):c.867G>A (p.Leu289=)
|
rs1590394212
|
|
|
NM_024426.6(WT1):c.868C>T (p.Leu290=)
|
|
|
|
NM_024426.6(WT1):c.869T>G (p.Leu290Arg)
|
|
|
|
NM_024426.6(WT1):c.874A>G (p.Thr292Ala)
|
rs1853114494
|
|
|
NM_024426.6(WT1):c.875C>A (p.Thr292Lys)
|
rs1853114358
|
|
|
NM_024426.6(WT1):c.875C>T (p.Thr292Met)
|
rs1853114358
|
|
|
NM_024426.6(WT1):c.876G>A (p.Thr292=)
|
rs1343218741
|
|
|
NM_024426.6(WT1):c.876G>C (p.Thr292=)
|
rs1343218741
|
|
|
NM_024426.6(WT1):c.876G>T (p.Thr292=)
|
rs1343218741
|
|
|
NM_024426.6(WT1):c.877C>T (p.Pro293Ser)
|
|
|
|
NM_024426.6(WT1):c.879C>T (p.Pro293=)
|
rs1274468551
|
|
|
NM_024426.6(WT1):c.87C>A (p.Cys29Ter)
|
rs1554946770
|
|
|
NM_024426.6(WT1):c.87C>T (p.Cys29=)
|
rs1554946770
|
|
|
NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)
|
rs1554945031
|
|
|
NM_024426.6(WT1):c.882C>T (p.Tyr294=)
|
rs1554945031
|
|
|
NM_024426.6(WT1):c.882_887+3del
|
rs2133072022
|
|
|
NM_024426.6(WT1):c.883A>G (p.Ser295Gly)
|
rs1853113579
|
|
|
NM_024426.6(WT1):c.884G>A (p.Ser295Asn)
|
|
|
|
NM_024426.6(WT1):c.887+11G>A
|
rs1286407878
|
|
|
NM_024426.6(WT1):c.887+12C>T
|
|
|
|
NM_024426.6(WT1):c.887+15_887+16delinsAA
|
|
|
|
NM_024426.6(WT1):c.887+17C>T
|
|
|
|
NM_024426.6(WT1):c.887+18T>C
|
|
|
|
NM_024426.6(WT1):c.887+20T>C
|
|
|
|
NM_024426.6(WT1):c.887+6_887+8dup
|
|
|
|
NM_024426.6(WT1):c.887+9G>A
|
|
|
|
NM_024426.6(WT1):c.888-13G>T
|
|
|
|
NM_024426.6(WT1):c.888-16G>A
|
|
|
|
NM_024426.6(WT1):c.888-1G>A
|
|
|
|
NM_024426.6(WT1):c.888-20T>A
|
rs2133037949
|
|
|
NM_024426.6(WT1):c.888-5A>C
|
rs751693310
|
|
|
NM_024426.6(WT1):c.888-6T>C
|
|
|
|
NM_024426.6(WT1):c.888-8T>C
|
|
|
|
NM_024426.6(WT1):c.888-8dup
|
|
|
|
NM_024426.6(WT1):c.888-9T>A
|
rs1852720933
|
|
|
NM_024426.6(WT1):c.888-9T>C
|
rs1852720933
|
|
|
NM_024426.6(WT1):c.891C>A (p.Asp297Glu)
|
rs2133037806
|
|
|
NM_024426.6(WT1):c.892A>G (p.Asn298Asp)
|
rs1554943492
|
|
|
NM_024426.6(WT1):c.893A>G (p.Asn298Ser)
|
rs907964605
|
|
|
NM_024426.6(WT1):c.897del (p.Leu299fs)
|
rs1852720329
|
|
|
NM_024426.6(WT1):c.900C>T (p.Tyr300=)
|
rs190440703
|
|
|
NM_024426.6(WT1):c.903A>G (p.Gln301=)
|
|
|
|
NM_024426.6(WT1):c.905T>A (p.Met302Lys)
|
rs1208241960
|
|
|
NM_024426.6(WT1):c.905T>G (p.Met302Arg)
|
|
|
|
NM_024426.6(WT1):c.906G>T (p.Met302Ile)
|
|
|
|
NM_024426.6(WT1):c.907A>G (p.Thr303Ala)
|
|
|
|
NM_024426.6(WT1):c.908C>T (p.Thr303Ile)
|
|
|
|
NM_024426.6(WT1):c.909A>G (p.Thr303=)
|
rs2133037516
|
|
|
NM_024426.6(WT1):c.910T>C (p.Ser304Pro)
|
|
|
|
NM_024426.6(WT1):c.912C>A (p.Ser304=)
|
|
|
|
NM_024426.6(WT1):c.912C>T (p.Ser304=)
|
|
|
|
NM_024426.6(WT1):c.913C>T (p.Gln305Ter)
|
|
|
|
NM_024426.6(WT1):c.916C>A (p.Leu306Ile)
|
rs2133037398
|
|
|
NM_024426.6(WT1):c.919G>C (p.Glu307Gln)
|
rs1852718651
|
|
|
NM_024426.6(WT1):c.91C>G (p.Gln31Glu)
|
|
|
|
NM_024426.6(WT1):c.91C>T (p.Gln31Ter)
|
rs914057243
|
|
|
NM_024426.6(WT1):c.922T>G (p.Cys308Gly)
|
rs1852718495
|
|
|
NM_024426.6(WT1):c.923G>A (p.Cys308Tyr)
|
|
|
|
NM_024426.6(WT1):c.928A>C (p.Thr310Pro)
|
|
|
|
NM_024426.6(WT1):c.930C>G (p.Thr310=)
|
|
|
|
NM_024426.6(WT1):c.930C>T (p.Thr310=)
|
rs1268419525
|
|
|
NM_024426.6(WT1):c.939G>A (p.Gln313=)
|
|
|
|
NM_024426.6(WT1):c.941T>G (p.Met314Arg)
|
|
|
|
NM_024426.6(WT1):c.946T>A (p.Leu316Ile)
|
rs2133036912
|
|
|
NM_024426.6(WT1):c.94C>A (p.Gln32Lys)
|
|
|
|
NM_024426.6(WT1):c.951A>C (p.Gly317=)
|
rs2133036838
|
|
|
NM_024426.6(WT1):c.953C>G (p.Ala318Gly)
|
rs1201042140
|
|
|
NM_024426.6(WT1):c.955A>G (p.Thr319Ala)
|
rs1852716784
|
|
|
NM_024426.6(WT1):c.956C>A (p.Thr319Asn)
|
rs372630828
|
|
|
NM_024426.6(WT1):c.962A>C (p.Lys321Thr)
|
|
|
|
NM_024426.6(WT1):c.964G>A (p.Gly322Arg)
|
|
|
|
NM_024426.6(WT1):c.965+13C>T
|
rs1159065961
|
|
|
NM_024426.6(WT1):c.965+20A>C
|
|
|
|
NM_024426.6(WT1):c.965+20A>G
|
|
|
|
NM_024426.6(WT1):c.965+2T>C
|
|
|
|
NM_024426.6(WT1):c.965+5G>A
|
rs2133036572
|
|
|
NM_024426.6(WT1):c.965+6G>A
|
|
|
|
NM_024426.6(WT1):c.965+7T>C
|
rs1590375400
|
|
|
NM_024426.6(WT1):c.965+7T>G
|
rs1590375400
|
|
|
NM_024426.6(WT1):c.965G>A (p.Gly322Glu)
|
|
|
|
NM_024426.6(WT1):c.966-12C>A
|
rs2133032805
|
|
|
NM_024426.6(WT1):c.966-15CTT[2]
|
rs1316773733
|
|
|
NM_024426.6(WT1):c.966-1G>A
|
rs773989805
|
|
|
NM_024426.6(WT1):c.966-3T>C
|
|
|
|
NM_024426.6(WT1):c.966-4C>G
|
rs1590373580
|
|
|
NM_024426.6(WT1):c.966-4del
|
rs1438888966
|
|
|
NM_024426.6(WT1):c.966-8T>C
|
rs1273567991
|
|
|
NM_024426.6(WT1):c.968T>C (p.Val323Ala)
|
rs1852677213
|
|
|
NM_024426.6(WT1):c.970G>T (p.Ala324Ser)
|
|
|
|
NM_024426.6(WT1):c.973G>T (p.Ala325Ser)
|
|
|
|
NM_024426.6(WT1):c.976G>C (p.Gly326Arg)
|
|
|
|
NM_024426.6(WT1):c.978G>A (p.Gly326=)
|
rs2133032654
|
|
|
NM_024426.6(WT1):c.979A>C (p.Ser327Arg)
|
rs1590373542
|
|
|
NM_024426.6(WT1):c.981C>T (p.Ser327=)
|
|
|
|
NM_024426.6(WT1):c.985A>G (p.Ser329Gly)
|
|
|
|
NM_024426.6(WT1):c.987C>G (p.Ser329Arg)
|
rs2133032527
|
|
|
NM_024426.6(WT1):c.987C>T (p.Ser329=)
|
|
|
|
NM_024426.6(WT1):c.988T>C (p.Ser330Pro)
|
rs879279620
|
|
|
NM_024426.6(WT1):c.989C>T (p.Ser330Leu)
|
rs762688982
|
|
|
NM_024426.6(WT1):c.98C>A (p.Pro33Gln)
|
|
|
|
NM_024426.6(WT1):c.992T>C (p.Val331Ala)
|
|
|
|
NM_024426.6(WT1):c.996A>T (p.Lys332Asn)
|
rs758410591
|
|
|
NM_024426.6(WT1):c.997T>C (p.Trp333Arg)
|
|
|
|
NM_024426.6(WT1):c.99A>G (p.Pro33=)
|
rs2133107306
|
|
|
NM_080647.1(TBX1):c.-4_6del (p.Met1fs)
|
|
|
|
NM_080647.1(TBX1):c.15C>T (p.Thr5=)
|
rs764497467
|
|
|
NM_080647.1(TBX1):c.28A>G (p.Met10Val)
|
rs1936578247
|
|
|
NM_080647.1(TBX1):c.34+12G>A
|
|
|
|
NM_080647.1(TBX1):c.34+17T>A
|
|
|
|
NM_080647.1(TBX1):c.34+18G>C
|
|
|
|
NM_080647.1(TBX1):c.34+2T>A
|
|
|
|
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)
|
rs2145836461
|
|