NM_001172509.2(SATB2):c.1543-4A>C
|
rs10153730
|
0.93908
|
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)
|
rs626169
|
0.90284
|
NM_019040.5(ELP4):c.*3208C>T
|
rs608293
|
0.88020
|
NM_019040.5(ELP4):c.*3514_*3517dup
|
rs397795797
|
0.87931
|
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074
|
0.84910
|
NM_001002295.2(GATA3):c.*612G>A
|
rs1058240
|
0.81149
|
NM_001002295.2(GATA3):c.925-27C>T
|
rs422628
|
0.76775
|
NM_019040.5(ELP4):c.*5226T>A
|
rs1506
|
0.72043
|
NM_019040.5(ELP4):c.*2452C>T
|
rs3026401
|
0.70691
|
NM_005573.4(LMNB1):c.*43T>C
|
rs1051643
|
0.66941
|
NM_006940.6(SOX5):c.481+29A>G
|
rs7980561
|
0.66790
|
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala)
|
rs17855830
|
0.63679
|
NM_001172509.2(SATB2):c.474-35G>C
|
rs1348813
|
0.63041
|
NR_134676.1(LOC105374344):n.52T>C
|
rs62296477
|
0.61416
|
NM_016111.4(TELO2):c.682+115C>T
|
rs2235630
|
0.61186
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422
|
0.56905
|
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg)
|
rs2235624
|
0.51194
|
NM_005573.4(LMNB1):c.*239C>T
|
rs1051644
|
0.42884
|
NM_019040.5(ELP4):c.*4250C>T
|
rs12421026
|
0.42881
|
NM_001002295.2(GATA3):c.-251G>A
|
rs10905277
|
0.42864
|
NM_016111.4(TELO2):c.2226+38A>G
|
rs11248882
|
0.42009
|
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg)
|
rs2248128
|
0.41062
|
NM_016111.4(TELO2):c.2415T>C (p.Ala805=)
|
rs3180228
|
0.37206
|
NM_022455.5(NSD1):c.1482C>T (p.Cys494=)
|
rs1363405
|
0.36334
|
NM_024426.6(WT1):c.213G>T (p.Pro71=)
|
rs2234582
|
0.31689
|
NM_001134673.4(NFIA):c.1083G>A (p.Pro361=)
|
rs2236059
|
0.29650
|
NM_024426.6(WT1):c.887+16G>A
|
rs1799933
|
0.26810
|
NM_019040.5(ELP4):c.*3703G>A
|
rs3026398
|
0.22983
|
NM_016111.4(TELO2):c.2227-39C>T
|
rs3736721
|
0.22446
|
NM_004715.5(CTDP1):c.978G>A (p.Thr326=)
|
rs599554
|
0.20817
|
NM_000304.4(PMP22):c.*577T>C
|
rs7538
|
0.20549
|
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)
|
rs2126082
|
0.18278
|
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=)
|
rs11740250
|
0.16701
|
NM_024426.6(WT1):c.1122A>G (p.Arg374=)
|
rs16754
|
0.16617
|
NM_001002295.2(GATA3):c.*517A>G
|
rs9746
|
0.16581
|
NR_120546.1(WT1-AS):n.1873G>A
|
rs6508
|
0.16158
|
NM_022039.4(FBXW4):c.461T>A (p.Val154Glu)
|
rs61382490
|
0.15406
|
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_019040.5(ELP4):c.*3998C>T
|
rs662702
|
0.14929
|
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_000304.4(PMP22):c.*828G>A
|
rs13027
|
0.06019
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_000304.4(PMP22):c.*228G>A
|
rs1804193
|
0.05698
|
NM_005573.4(LMNB1):c.*18C>T
|
rs2230151
|
0.05698
|
NM_019040.5(ELP4):c.*2114C>G
|
rs16922475
|
0.05615
|
NM_005573.4(LMNB1):c.-298G>T
|
rs111865788
|
0.05448
|
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=)
|
rs3749830
|
0.05426
|
NM_001002295.2(GATA3):c.621C>T (p.Ala207=)
|
rs2229359
|
0.05137
|
NM_019040.5(ELP4):c.*3509A>G
|
rs542906080
|
0.04927
|
NM_022455.5(NSD1):c.5623-22G>A
|
rs79098301
|
0.04787
|
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_000304.4(PMP22):c.*1111G>T
|
rs7415
|
0.04701
|
NM_024426.6(WT1):c.1074A>G (p.Gln358=)
|
rs2234590
|
0.04693
|
NM_001002295.2(GATA3):c.-60C>T
|
rs11567887
|
0.04369
|
NM_022039.4(FBXW4):c.*7G>C
|
rs73349895
|
0.03898
|
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=)
|
rs6875053
|
0.03827
|
NM_001002295.2(GATA3):c.606T>C (p.Arg202=)
|
rs2228254
|
0.03693
|
NM_001002295.2(GATA3):c.*93C>T
|
rs2229360
|
0.03683
|
NM_001002295.2(GATA3):c.-58C>T
|
rs412359
|
0.03619
|
NM_001002295.2(GATA3):c.1257G>A (p.Thr419=)
|
rs11567941
|
0.03143
|
NM_022039.4(FBXW4):c.534C>G (p.Ala178=)
|
rs61761937
|
0.03084
|
NM_005573.4(LMNB1):c.432G>A (p.Ser144=)
|
rs34224885
|
0.02972
|
NM_022039.4(FBXW4):c.216G>A (p.Gly72=)
|
rs77990860
|
0.02820
|
NM_019040.5(ELP4):c.*2673_*2674del
|
rs141022497
|
0.02792
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_019040.5(ELP4):c.*4105C>T
|
rs73477656
|
0.02650
|
NM_005573.4(LMNB1):c.*503A>T
|
rs181936031
|
0.02624
|
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)
|
rs28932179
|
0.02602
|
NM_022039.4(FBXW4):c.440C>A (p.Ala147Asp)
|
rs117664315
|
0.02439
|
NM_001002295.2(GATA3):c.*1066C>T
|
rs11255509
|
0.02420
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
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_022039.4(FBXW4):c.*259C>T
|
rs80085258
|
0.01794
|
NM_000304.4(PMP22):c.*1120T>C
|
rs11654383
|
0.01749
|
NM_004715.5(CTDP1):c.492+7C>T
|
rs115851227
|
0.01593
|
NM_012318.3(LETM1):c.326A>G (p.His109Arg)
|
rs62623389
|
0.01570
|
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val)
|
rs36105360
|
0.01478
|
NM_000304.4(PMP22):c.-74A>G
|
rs114365663
|
0.01441
|
NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro)
|
rs111600818
|
0.01363
|
NM_001378120.1(MBD5):c.2519-20T>G
|
rs775650772
|
0.01348
|
NM_001368894.2(PAX6):c.*842G>A
|
rs115045926
|
0.01172
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_001002295.2(GATA3):c.-49C>T
|
rs11567942
|
0.01056
|
NM_001012614.2(CTBP1):c.486C>T (p.Arg162=)
|
rs1045458
|
0.01026
|
NM_001330078.2(NRXN1):c.3365-110075G>A
|
rs189873392
|
0.00970
|
NM_001330078.2(NRXN1):c.4217-16A>C
|
rs74520052
|
0.00964
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
NM_019040.5(ELP4):c.*3851C>T
|
rs141344418
|
0.00935
|
NM_005573.4(LMNB1):c.279C>T (p.Leu93=)
|
rs74362780
|
0.00909
|
NM_019040.5(ELP4):c.*3994C>A
|
rs79739975
|
0.00857
|
NM_005573.4(LMNB1):c.360-19C>T
|
rs74640805
|
0.00844
|
NM_000304.4(PMP22):c.-86A>C
|
rs140650630
|
0.00832
|
NM_019040.5(ELP4):c.*3425C>T
|
rs3026399
|
0.00813
|
NM_001368894.2(PAX6):c.*417C>T
|
rs55756603
|
0.00810
|
NM_001368894.2(PAX6):c.-180A>G
|
rs75563367
|
0.00766
|
NM_000304.4(PMP22):c.396C>T (p.Tyr132=)
|
rs74361095
|
0.00743
|
NM_019040.5(ELP4):c.*4172A>C
|
rs73477658
|
0.00701
|
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_032951.3(MLXIPL):c.1096T>C (p.Leu366=)
|
rs190197045
|
0.00595
|
NM_001378120.1(MBD5):c.1596A>G (p.Val532=)
|
rs114611333
|
0.00588
|
NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=)
|
rs35614606
|
0.00575
|
NM_024426.6(WT1):c.*897G>C
|
rs5030324
|
0.00520
|
NM_022455.5(NSD1):c.1792T>C (p.Leu598=)
|
rs28932176
|
0.00477
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
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_001002295.2(GATA3):c.*987T>G
|
rs183890714
|
0.00440
|
NM_001378120.1(MBD5):c.297A>G (p.Leu99=)
|
rs77213206
|
0.00431
|
NM_001002295.2(GATA3):c.573C>T (p.Pro191=)
|
rs35508267
|
0.00407
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
NM_024426.6(WT1):c.*542G>A
|
rs142726499
|
0.00380
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000304.4(PMP22):c.*912G>A
|
rs149070440
|
0.00366
|
NM_005573.4(LMNB1):c.*691A>G
|
rs77429268
|
0.00356
|
NM_022039.4(FBXW4):c.134C>T (p.Ala45Val)
|
rs557225276
|
0.00351
|
NM_001002295.2(GATA3):c.-48G>T
|
rs554517990
|
0.00344
|
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)
|
rs116413446
|
0.00337
|
NM_001002295.2(GATA3):c.-359G>A
|
rs138512915
|
0.00332
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
NM_005573.4(LMNB1):c.*284T>G
|
rs550205958
|
0.00297
|
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=)
|
rs115816749
|
0.00290
|
NM_005573.4(LMNB1):c.852T>C (p.Ser284=)
|
rs61726489
|
0.00288
|
NM_001002295.2(GATA3):c.*491A>G
|
rs138815232
|
0.00283
|
NM_022039.4(FBXW4):c.1011T>C (p.Asp337=)
|
rs61742882
|
0.00281
|
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
|
rs141094419
|
0.00278
|
NM_144997.7(FLCN):c.1177-21G>A
|
rs150687840
|
0.00276
|
NM_024426.6(WT1):c.181C>A (p.Arg61=)
|
rs2234581
|
0.00270
|
NM_022039.4(FBXW4):c.*453C>T
|
rs570558261
|
0.00263
|
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=)
|
rs145726709
|
0.00262
|
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp)
|
rs138140155
|
0.00247
|
NM_019040.5(ELP4):c.*3713A>T
|
rs138881442
|
0.00236
|
NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=)
|
rs148813865
|
0.00231
|
NM_022039.4(FBXW4):c.*233G>T
|
rs535051082
|
0.00231
|
NM_019040.5(ELP4):c.*5347T>C
|
rs117590302
|
0.00220
|
NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr)
|
rs200391124
|
0.00214
|
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met)
|
rs144900277
|
0.00206
|
NM_000304.4(PMP22):c.-141C>G
|
rs560442424
|
0.00204
|
NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=)
|
rs149925711
|
0.00201
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
NM_019040.5(ELP4):c.*4932G>A
|
rs181818313
|
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_001002295.2(GATA3):c.*664C>T
|
rs192494656
|
0.00195
|
NM_019040.5(ELP4):c.*2040G>C
|
rs183115097
|
0.00194
|
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)
|
rs34921128
|
0.00190
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
NM_022455.5(NSD1):c.4378+26C>T
|
rs139601377
|
0.00189
|
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_001378414.1(HDAC4):c.684G>A (p.Pro228=)
|
rs144387989
|
0.00183
|
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)
|
rs61754648
|
0.00181
|
NM_001378414.1(HDAC4):c.2532+18G>A
|
rs186981980
|
0.00178
|
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=)
|
rs148891711
|
0.00173
|
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=)
|
rs141436870
|
0.00166
|
NM_024426.6(WT1):c.*138G>A
|
rs111351882
|
0.00165
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097
|
0.00154
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_019040.5(ELP4):c.*4974C>T
|
rs138035131
|
0.00148
|
NM_001002295.2(GATA3):c.-69G>A
|
rs28395794
|
0.00147
|
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)
|
rs149334244
|
0.00145
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
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_005573.4(LMNB1):c.1492-11G>T
|
rs201050320
|
0.00120
|
NM_019040.5(ELP4):c.*1302T>C
|
rs146579778
|
0.00120
|
NM_001002295.2(GATA3):c.-351C>T
|
rs34628951
|
0.00117
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)
|
rs146020786
|
0.00115
|
NM_002397.5(MEF2C):c.811-13C>T
|
rs201988423
|
0.00113
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
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_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)
|
rs149090172
|
0.00103
|
NM_001378120.1(MBD5):c.3754-9T>C
|
rs370173652
|
0.00100
|
NM_005573.4(LMNB1):c.*54A>T
|
rs370551700
|
0.00099
|
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)
|
rs144206959
|
0.00097
|
NM_002397.5(MEF2C):c.834+15C>T
|
rs140447603
|
0.00097
|
NM_019040.5(ELP4):c.*2525C>A
|
rs183433948
|
0.00096
|
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=)
|
rs138679257
|
0.00090
|
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298
|
0.00088
|
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln)
|
rs138405802
|
0.00087
|
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008
|
0.00086
|
NM_001002295.2(GATA3):c.*26C>G
|
rs200946839
|
0.00082
|
NM_001002295.2(GATA3):c.-264G>T
|
rs35971003
|
0.00077
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_001002295.2(GATA3):c.-95G>T
|
rs369825935
|
0.00074
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln)
|
rs35934694
|
0.00074
|
NM_005573.4(LMNB1):c.*15T>C
|
rs140296800
|
0.00073
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
NM_001002295.2(GATA3):c.1050+19G>A
|
rs150545188
|
0.00072
|
NM_001172509.2(SATB2):c.210C>T (p.Asp70=)
|
rs34311963
|
0.00070
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989
|
0.00069
|
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_001172509.2(SATB2):c.195C>T (p.Val65=)
|
rs147613731
|
0.00065
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
NM_001002295.2(GATA3):c.*798G>A
|
rs531077807
|
0.00064
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00064
|
NM_002397.5(MEF2C):c.811-12G>A
|
rs149706617
|
0.00064
|
NM_000304.4(PMP22):c.*200T>G
|
rs142106420
|
0.00063
|
NM_078480.3(PUF60):c.1254G>A (p.Glu418=)
|
rs117178721
|
0.00062
|
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_019040.5(ELP4):c.*3528A>G
|
rs143185259
|
0.00060
|
NM_005573.4(LMNB1):c.60G>A (p.Thr20=)
|
rs755396585
|
0.00058
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)
|
rs150920473
|
0.00054
|
NM_144997.7(FLCN):c.1269C>T (p.His423=)
|
rs41464156
|
0.00053
|
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)
|
rs150854966
|
0.00052
|
NM_024426.6(WT1):c.1161A>G (p.Ala387=)
|
rs141834493
|
0.00051
|
NM_002397.5(MEF2C):c.402+16A>G
|
rs373582392
|
0.00050
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=)
|
rs115145637
|
0.00049
|
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_000304.4(PMP22):c.*173C>T
|
rs117277951
|
0.00044
|
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223
|
0.00044
|
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)
|
rs142059681
|
0.00044
|
NM_000304.4(PMP22):c.*542C>T
|
rs184928176
|
0.00042
|
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)
|
rs139964770
|
0.00042
|
NM_022455.5(NSD1):c.*3098dup
|
rs145155077
|
0.00042
|
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)
|
rs199814669
|
0.00042
|
NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn)
|
rs201262483
|
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_022039.4(FBXW4):c.*204G>A
|
rs185181909
|
0.00040
|
NM_001002295.2(GATA3):c.294C>T (p.Asp98=)
|
rs144221016
|
0.00039
|
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro)
|
rs142515048
|
0.00039
|
NM_024426.6(WT1):c.375C>T (p.Gly125=)
|
rs776209354
|
0.00039
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
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_000304.4(PMP22):c.-34-5C>T
|
rs375105159
|
0.00037
|
NM_144997.7(FLCN):c.619-20C>T
|
rs202217257
|
0.00037
|
NM_181703.4(GJA5):c.995G>A (p.Arg332His)
|
rs116551187
|
0.00037
|
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_000304.4(PMP22):c.*1049C>G
|
rs750733887
|
0.00035
|
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_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
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_000127.3(EXT1):c.-642G>A
|
rs534171475
|
0.00032
|
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys)
|
rs142016804
|
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_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
NM_002049.4(GATA1):c.174G>A (p.Ala58=)
|
rs139614533
|
0.00031
|
NM_005573.4(LMNB1):c.642+10T>C
|
rs200907573
|
0.00031
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu)
|
rs532195262
|
0.00031
|
NM_001002295.2(GATA3):c.-495G>C
|
rs556347150
|
0.00030
|
NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu)
|
rs201187772
|
0.00030
|
NM_019040.5(ELP4):c.*1783T>G
|
rs140971065
|
0.00030
|
NM_001002295.2(GATA3):c.*575A>C
|
rs552915242
|
0.00029
|
NM_001002295.2(GATA3):c.375C>T (p.Gly125=)
|
rs142451494
|
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_001378120.1(MBD5):c.1961A>T (p.Asp654Val)
|
rs115495710
|
0.00029
|
NM_005573.4(LMNB1):c.-314C>T
|
rs561989552
|
0.00029
|
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val)
|
rs115940994
|
0.00028
|
NM_001378414.1(HDAC4):c.1534-9G>A
|
rs375265585
|
0.00028
|
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)
|
rs142703625
|
0.00028
|
NM_001002295.2(GATA3):c.330C>T (p.Ser110=)
|
rs111978415
|
0.00027
|
NM_024426.6(WT1):c.1182C>T (p.Arg394=)
|
rs147939483
|
0.00027
|
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)
|
rs536177240
|
0.00026
|
NM_001172509.2(SATB2):c.151G>A (p.Val51Met)
|
rs540871216
|
0.00025
|
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His)
|
rs199978276
|
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_001172509.2(SATB2):c.333G>C (p.Ala111=)
|
rs140116634
|
0.00024
|
NM_001330078.2(NRXN1):c.3365-109939C>T
|
rs766942777
|
0.00024
|
NM_001378120.1(MBD5):c.69G>A (p.Val23=)
|
rs151204004
|
0.00024
|
NM_022039.4(FBXW4):c.1235+13T>G
|
rs193073481
|
0.00024
|
NM_022039.4(FBXW4):c.192G>A (p.Thr64=)
|
rs886046647
|
0.00024
|
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)
|
rs143571876
|
0.00024
|
NM_144997.7(FLCN):c.1326C>T (p.His442=)
|
rs145004158
|
0.00023
|
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_000304.4(PMP22):c.*894C>T
|
rs916402753
|
0.00021
|
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)
|
rs149117932
|
0.00021
|
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp)
|
rs372311299
|
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_022039.4(FBXW4):c.1657G>A (p.Ala553Thr)
|
rs200476624
|
0.00021
|
NM_022039.4(FBXW4):c.755T>C (p.Val252Ala)
|
rs143070839
|
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_001368894.2(PAX6):c.*335T>C
|
rs766518284
|
0.00020
|
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_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)
|
rs188857186
|
0.00020
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile)
|
rs199574095
|
0.00020
|
NM_144997.7(FLCN):c.1176+15T>C
|
rs550870270
|
0.00020
|
NM_000501.4(ELN):c.381G>A (p.Ala127=)
|
rs148216123
|
0.00019
|
NM_001002295.2(GATA3):c.*22G>A
|
rs199951165
|
0.00019
|
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=)
|
rs150824088
|
0.00019
|
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly)
|
rs200184823
|
0.00019
|
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile)
|
rs761118931
|
0.00019
|
NM_019040.5(ELP4):c.*3433G>T
|
rs192709453
|
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_001002295.2(GATA3):c.591G>A (p.Glu197=)
|
rs372630189
|
0.00018
|
NM_001172509.2(SATB2):c.1386+19G>A
|
rs374300066
|
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_001002295.2(GATA3):c.*383T>G
|
rs116910852
|
0.00017
|
NM_016111.4(TELO2):c.2376C>T (p.Asp792=)
|
rs200969710
|
0.00017
|
NM_019040.5(ELP4):c.*3383C>T
|
rs541022955
|
0.00017
|
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)
|
rs559617787
|
0.00017
|
NM_000304.4(PMP22):c.*3C>T
|
rs373690370
|
0.00016
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
NM_001172509.2(SATB2):c.1740+12C>T
|
rs201101830
|
0.00016
|
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=)
|
rs201135028
|
0.00016
|
NM_001378414.1(HDAC4):c.155G>A (p.Arg52His)
|
rs777568201
|
0.00016
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_022455.5(NSD1):c.-8G>A
|
rs199639292
|
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_144997.7(FLCN):c.1062+7G>A
|
rs540198776
|
0.00016
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
NM_144997.7(FLCN):c.1278C>T (p.Ile426=)
|
rs41459448
|
0.00016
|
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)
|
rs199786696
|
0.00016
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
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_022455.5(NSD1):c.8048A>G (p.Gln2683Arg)
|
rs374110615
|
0.00015
|
NM_000304.3(PMP22):c.-223C>T
|
rs549380262
|
0.00014
|
NM_001002295.2(GATA3):c.*952G>A
|
rs773450577
|
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_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
NM_005573.4(LMNB1):c.141C>T (p.Ile47=)
|
rs755177047
|
0.00014
|
NM_016111.4(TELO2):c.238C>A (p.His80Asn)
|
rs199863486
|
0.00014
|
NM_022039.4(FBXW4):c.*600G>A
|
rs1022774144
|
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_000304.4(PMP22):c.-134G>A
|
rs754758124
|
0.00013
|
NM_001002295.2(GATA3):c.990G>A (p.Arg330=)
|
rs374947324
|
0.00013
|
NM_001172509.2(SATB2):c.381C>A (p.Pro127=)
|
rs746473092
|
0.00013
|
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)
|
rs80293130
|
0.00013
|
NM_005573.4(LMNB1):c.*270T>C
|
rs1021872186
|
0.00013
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307
|
0.00012
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
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_001330078.2(NRXN1):c.3365-109899A>G
|
rs562219421
|
0.00012
|
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)
|
rs183855575
|
0.00012
|
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)
|
rs200293618
|
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_022455.5(NSD1):c.7933C>T (p.Leu2645=)
|
rs61730553
|
0.00012
|
NM_024426.6(WT1):c.1017-15T>C
|
rs374441355
|
0.00012
|
NM_000501.4(ELN):c.202G>A (p.Gly68Arg)
|
rs372566075
|
0.00011
|
NM_001002295.2(GATA3):c.72G>A (p.Pro24=)
|
rs202168967
|
0.00011
|
NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp)
|
rs147191297
|
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_002397.5(MEF2C):c.642C>T (p.Asn214=)
|
rs79455305
|
0.00011
|
NM_005573.4(LMNB1):c.*301T>C
|
rs960666703
|
0.00011
|
NM_019040.5(ELP4):c.*4806T>A
|
rs189545730
|
0.00011
|
NM_022039.4(FBXW4):c.726-12G>T
|
rs755969920
|
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_032322.4(RNF135):c.857G>A (p.Arg286His)
|
rs121918162
|
0.00011
|
NM_001172509.2(SATB2):c.1173+5A>G
|
rs569655648
|
0.00010
|
NM_001172509.2(SATB2):c.2088C>T (p.Thr696=)
|
rs143484322
|
0.00010
|
NM_001378120.1(MBD5):c.4182A>G (p.Ser1394=)
|
rs775314520
|
0.00010
|
NM_001378414.1(HDAC4):c.111G>A (p.Ala37=)
|
rs540431173
|
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_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
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_144997.7(FLCN):c.1538+10A>C
|
rs12451312
|
0.00010
|
NM_001002295.2(GATA3):c.241+8C>T
|
rs376505863
|
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_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_002397.5(MEF2C):c.54+13A>T
|
rs374788140
|
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.4187C>T (p.Thr1396Met)
|
rs747298351
|
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_144997.7(FLCN):c.1432+8C>T
|
rs201898226
|
0.00009
|
NM_144997.7(FLCN):c.779+9C>T
|
rs373504780
|
0.00009
|
NM_000304.4(PMP22):c.*544C>T
|
rs1329536994
|
0.00008
|
NM_000304.4(PMP22):c.*985C>T
|
rs886052610
|
0.00008
|
NM_001002295.2(GATA3):c.*656G>A
|
rs929190496
|
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_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr)
|
rs199939303
|
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_002397.5(MEF2C):c.363C>T (p.Asn121=)
|
rs186648089
|
0.00008
|
NM_002397.5(MEF2C):c.780A>G (p.Pro260=)
|
rs776117674
|
0.00008
|
NM_019040.5(ELP4):c.*5123T>A
|
rs576321279
|
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_144997.7(FLCN):c.792G>A (p.Ala264=)
|
rs140500421
|
0.00008
|
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)
|
rs373650953
|
0.00007
|
NM_001002295.2(GATA3):c.870C>T (p.Leu290=)
|
rs575091
|
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_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_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
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.3089T>C (p.Leu1030Ser)
|
rs200856103
|
0.00007
|
NM_022455.5(NSD1):c.3090G>T (p.Leu1030Phe)
|
rs201860097
|
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.*574del
|
rs5030319
|
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_144997.7(FLCN):c.802C>T (p.Arg268Trp)
|
rs762370059
|
0.00007
|
NM_144997.7(FLCN):c.867C>T (p.Leu289=)
|
rs367562964
|
0.00007
|
NM_000304.4(PMP22):c.*26T>C
|
rs200563670
|
0.00006
|
NM_000304.4(PMP22):c.*890C>T
|
rs546778557
|
0.00006
|
NM_000501.4(ELN):c.1543G>A (p.Val515Met)
|
rs376258672
|
0.00006
|
NM_001002295.2(GATA3):c.-40G>A
|
rs201178566
|
0.00006
|
NM_001002295.2(GATA3):c.216G>T (p.Val72=)
|
rs560531559
|
0.00006
|
NM_001002295.2(GATA3):c.840G>C (p.Thr280=)
|
rs144796042
|
0.00006
|
NM_001042424.3(NSD2):c.*1922dup
|
rs886059331
|
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_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp)
|
rs200935246
|
0.00006
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
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_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)
|
rs151167488
|
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_004715.5(CTDP1):c.431C>T (p.Pro144Leu)
|
rs758618193
|
0.00006
|
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)
|
rs187225056
|
0.00006
|
NM_019040.5(ELP4):c.*3092T>C
|
rs371438311
|
0.00006
|
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys)
|
rs770518721
|
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_144997.7(FLCN):c.1283C>T (p.Pro428Leu)
|
rs199889477
|
0.00006
|
NM_144997.7(FLCN):c.396+7C>T
|
rs781155484
|
0.00006
|
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_001330078.2(NRXN1):c.270G>T (p.Gln90His)
|
rs199960045
|
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_002049.4(GATA1):c.94G>A (p.Val32Ile)
|
rs782698349
|
0.00005
|
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr)
|
rs796052726
|
0.00005
|
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His)
|
rs994236399
|
0.00005
|
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His)
|
rs746416284
|
0.00005
|
NM_019040.5(ELP4):c.*2664G>A
|
rs567720234
|
0.00005
|
NM_022039.4(FBXW4):c.*3G>A
|
rs777074009
|
0.00005
|
NM_022455.5(NSD1):c.*1014dup
|
rs886060448
|
0.00005
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)
|
rs142023792
|
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_144997.7(FLCN):c.1692C>T (p.His564=)
|
rs201810397
|
0.00005
|
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)
|
rs150051278
|
0.00005
|
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)
|
rs756787389
|
0.00005
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)
|
rs782625771
|
0.00004
|
NM_001002295.2(GATA3):c.*857A>T
|
rs886047304
|
0.00004
|
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=)
|
rs746926553
|
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_001330078.2(NRXN1):c.3365-109902C>T
|
rs113067443
|
0.00004
|
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met)
|
rs138261348
|
0.00004
|
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser)
|
rs200604893
|
0.00004
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
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_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.480T>C (p.Pro160=)
|
rs200518765
|
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_005573.4(LMNB1):c.*518T>C
|
rs185784874
|
0.00004
|
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile)
|
rs775272837
|
0.00004
|
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)
|
rs142217951
|
0.00004
|
NM_022039.4(FBXW4):c.*606A>C
|
rs886046641
|
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.3311A>G (p.His1104Arg)
|
rs758125212
|
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_078480.3(PUF60):c.297+9C>T
|
rs1028726810
|
0.00004
|
NM_144997.7(FLCN):c.1068G>T (p.Leu356=)
|
rs534904034
|
0.00004
|
NM_144997.7(FLCN):c.645C>T (p.Cys215=)
|
rs772360950
|
0.00004
|
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)
|
rs1194767470
|
0.00004
|
NM_144997.7(FLCN):c.716G>A (p.Arg239His)
|
rs753948488
|
0.00004
|
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)
|
rs749758787
|
0.00004
|
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)
|
rs140085632
|
0.00003
|
NM_001002295.2(GATA3):c.*105A>G
|
rs886047300
|
0.00003
|
NM_001002295.2(GATA3):c.*746C>T
|
rs545858251
|
0.00003
|
NM_001002295.2(GATA3):c.-369-11C>T
|
rs886047297
|
0.00003
|
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr)
|
rs200935603
|
0.00003
|
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met)
|
rs750735308
|
0.00003
|
NM_001002295.2(GATA3):c.948G>A (p.Thr316=)
|
rs12572959
|
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_001330078.2(NRXN1):c.338C>T (p.Ala113Val)
|
rs201542547
|
0.00003
|
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)
|
rs201481698
|
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_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_005573.4(LMNB1):c.1023C>T (p.Asp341=)
|
rs886059858
|
0.00003
|
NM_005573.4(LMNB1):c.672A>G (p.Glu224=)
|
rs372510778
|
0.00003
|
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
|
rs878853271
|
0.00003
|
NM_019040.5(ELP4):c.*1877A>G
|
rs745626044
|
0.00003
|
NM_019040.5(ELP4):c.*3504T>C
|
rs886048187
|
0.00003
|
NM_019040.5(ELP4):c.*3920C>T
|
rs886048191
|
0.00003
|
NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp)
|
rs140286143
|
0.00003
|
NM_022455.5(NSD1):c.*4596del
|
rs886060459
|
0.00003
|
NM_022455.5(NSD1):c.1224A>G (p.Gly408=)
|
rs587784069
|
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.3272T>G (p.Leu1091Arg)
|
rs764231926
|
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_032322.4(RNF135):c.727C>T (p.Gln243Ter)
|
rs121918161
|
0.00003
|
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)
|
rs556510460
|
0.00003
|
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)
|
rs150439088
|
0.00003
|
NM_144997.7(FLCN):c.1380C>T (p.Leu460=)
|
rs773581294
|
0.00003
|
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)
|
rs369115472
|
0.00003
|
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)
|
rs748878853
|
0.00003
|
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)
|
rs775149348
|
0.00003
|
NM_144997.7(FLCN):c.450T>C (p.Phe150=)
|
rs200672897
|
0.00003
|
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln)
|
rs369906553
|
0.00003
|
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)
|
rs774491699
|
0.00003
|
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)
|
rs558699420
|
0.00003
|
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)
|
rs769250170
|
0.00003
|
NM_144997.7(FLCN):c.779+5C>T
|
rs745645385
|
0.00003
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000304.4(PMP22):c.*174G>A
|
rs1386490077
|
0.00002
|
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)
|
rs755701957
|
0.00002
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
rs375449671
|
0.00002
|
NM_001002295.2(GATA3):c.*1029C>T
|
rs530772797
|
0.00002
|
NM_001002295.2(GATA3):c.*1072C>A
|
rs886047306
|
0.00002
|
NM_001002295.2(GATA3):c.-561G>T
|
rs1486145282
|
0.00002
|
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met)
|
rs374919553
|
0.00002
|
NM_001002295.2(GATA3):c.57C>T (p.Leu19=)
|
rs749900784
|
0.00002
|
NM_001002295.2(GATA3):c.605G>A (p.Arg202His)
|
rs767671768
|
0.00002
|
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr)
|
rs778421571
|
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_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
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_002049.4(GATA1):c.599-9C>T
|
rs1369447266
|
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_004715.5(CTDP1):c.440C>T (p.Thr147Met)
|
rs143464787
|
0.00002
|
NM_005573.4(LMNB1):c.1161-6A>G
|
rs765920630
|
0.00002
|
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn)
|
rs150504258
|
0.00002
|
NM_005573.4(LMNB1):c.360-8T>C
|
rs376081850
|
0.00002
|
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala)
|
rs374998378
|
0.00002
|
NM_016628.5(WAC):c.140G>A (p.Arg47Gln)
|
rs374821442
|
0.00002
|
NM_016628.5(WAC):c.367A>C (p.Lys123Gln)
|
rs949649739
|
0.00002
|
NM_019040.5(ELP4):c.*1714C>G
|
rs180780893
|
0.00002
|
NM_022039.4(FBXW4):c.1254G>A (p.Thr418=)
|
rs142870264
|
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.2174C>T (p.Thr725Met)
|
rs774810620
|
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_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)
|
rs751612997
|
0.00002
|
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
|
rs190786280
|
0.00002
|
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)
|
rs557336321
|
0.00002
|
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)
|
rs766801011
|
0.00002
|
NM_144997.7(FLCN):c.249+2C>T
|
rs939223011
|
0.00002
|
NM_144997.7(FLCN):c.396+6C>T
|
rs747922795
|
0.00002
|
NM_000304.4(PMP22):c.*907C>A
|
rs963622100
|
0.00001
|
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
rs148822354
|
0.00001
|
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)
|
rs1022583382
|
0.00001
|
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
|
rs765741053
|
0.00001
|
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)
|
rs973649598
|
0.00001
|
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)
|
rs782359367
|
0.00001
|
NM_000501.4(ELN):c.134-16T>C
|
rs782791376
|
0.00001
|
NM_000501.4(ELN):c.893T>C (p.Val298Ala)
|
rs782205353
|
0.00001
|
NM_001002295.2(GATA3):c.*267G>A
|
rs886047301
|
0.00001
|
NM_001002295.2(GATA3):c.*320T>C
|
rs1003189936
|
0.00001
|
NM_001002295.2(GATA3):c.-148A>G
|
rs886047299
|
0.00001
|
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=)
|
rs150229374
|
0.00001
|
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu)
|
rs752977342
|
0.00001
|
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=)
|
rs541782074
|
0.00001
|
NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp)
|
rs761676499
|
0.00001
|
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr)
|
rs752779081
|
0.00001
|
NM_001002295.2(GATA3):c.489G>A (p.Pro163=)
|
rs766774125
|
0.00001
|
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu)
|
rs1485724723
|
0.00001
|
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala)
|
rs548018172
|
0.00001
|
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser)
|
rs548852837
|
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_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile)
|
rs781442387
|
0.00001
|
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His)
|
rs761279630
|
0.00001
|
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=)
|
rs764347791
|
0.00001
|
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly)
|
rs748684256
|
0.00001
|
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=)
|
rs757748286
|
0.00001
|
NM_001368894.2(PAX6):c.*207G>A
|
rs886048199
|
0.00001
|
NM_001368894.2(PAX6):c.*226T>C
|
rs753595935
|
0.00001
|
NM_001368894.2(PAX6):c.-59G>T
|
rs886048204
|
0.00001
|
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)
|
rs769095184
|
0.00001
|
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)
|
rs779631884
|
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.677C>T (p.Ser226Leu)
|
rs1680672960
|
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_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_005267.5(GJA8):c.1033G>A (p.Glu345Lys)
|
rs1553242966
|
0.00001
|
NM_005573.4(LMNB1):c.*640G>A
|
rs1294635743
|
0.00001
|
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp)
|
rs1205547665
|
0.00001
|
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys)
|
rs771251880
|
0.00001
|
NM_005573.4(LMNB1):c.775C>T (p.Leu259=)
|
rs575662572
|
0.00001
|
NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn)
|
rs371364235
|
0.00001
|
NM_006940.6(SOX5):c.1226C>A (p.Pro409His)
|
rs1565958110
|
0.00001
|
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser)
|
rs764767423
|
0.00001
|
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)
|
rs766665093
|
0.00001
|
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)
|
rs754162070
|
0.00001
|
NM_016111.4(TELO2):c.1842+5G>A
|
rs758551997
|
0.00001
|
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)
|
rs150934316
|
0.00001
|
NM_016111.4(TELO2):c.682+1G>A
|
rs779227414
|
0.00001
|
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)
|
rs369656775
|
0.00001
|
NM_016628.5(WAC):c.31C>T (p.Leu11Phe)
|
rs139935489
|
0.00001
|
NM_019040.5(ELP4):c.*3859G>A
|
rs886048190
|
0.00001
|
NM_019040.5(ELP4):c.*4023C>A
|
rs886048194
|
0.00001
|
NM_019040.5(ELP4):c.*4889G>A
|
rs886048196
|
0.00001
|
NM_019040.5(ELP4):c.*5357A>G
|
rs886048197
|
0.00001
|
NM_019040.5(ELP4):c.*5471T>C
|
rs886048198
|
0.00001
|
NM_022039.4(FBXW4):c.1181A>G (p.His394Arg)
|
rs151048089
|
0.00001
|
NM_022039.4(FBXW4):c.1437C>T (p.Ser479=)
|
rs574963392
|
0.00001
|
NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln)
|
rs886046642
|
0.00001
|
NM_022455.5(NSD1):c.1035G>A (p.Pro345=)
|
rs776701573
|
0.00001
|
NM_022455.5(NSD1):c.1063+10dup
|
rs762416925
|
0.00001
|
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln)
|
rs769733603
|
0.00001
|
NM_022455.5(NSD1):c.108A>G (p.Gln36=)
|
rs549091873
|
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.1237-10T>C
|
rs587784070
|
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.1471G>A (p.Glu491Lys)
|
rs587784074
|
0.00001
|
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp)
|
rs1215568879
|
0.00001
|
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg)
|
rs1488271424
|
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.1976A>G (p.Asp659Gly)
|
rs754514832
|
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.2363G>A (p.Arg788Gln)
|
rs751258086
|
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.2925C>T (p.Ser975=)
|
rs587784090
|
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.3404C>T (p.Pro1135Leu)
|
rs1021852466
|
0.00001
|
NM_022455.5(NSD1):c.3426C>T (p.Asn1142=)
|
rs1182714953
|
0.00001
|
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg)
|
rs143406017
|
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.3558C>G (p.Ala1186=)
|
rs398124377
|
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.4150C>T (p.Arg1384Trp)
|
rs1765619618
|
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.5740C>T (p.Arg1914Cys)
|
rs587784154
|
0.00001
|
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His)
|
rs746726463
|
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.7739C>T (p.Ala2580Val)
|
rs755285941
|
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_032322.4(RNF135):c.575C>T (p.Thr192Ile)
|
rs1907708509
|
0.00001
|
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val)
|
rs756399764
|
0.00001
|
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg)
|
rs1411433335
|
0.00001
|
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu)
|
rs1313891453
|
0.00001
|
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=)
|
rs561236067
|
0.00001
|
NM_144997.7(FLCN):c.1301-8T>C
|
rs571192457
|
0.00001
|
NM_144997.7(FLCN):c.1315G>A (p.Val439Met)
|
rs112980409
|
0.00001
|
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)
|
rs759637055
|
0.00001
|
NM_144997.7(FLCN):c.1539-11G>C
|
rs368472222
|
0.00001
|
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)
|
rs760329266
|
0.00001
|
NM_144997.7(FLCN):c.1709G>A (p.Arg570His)
|
rs201056799
|
0.00001
|
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)
|
rs778275358
|
0.00001
|
NM_144997.7(FLCN):c.179C>T (p.Ala60Val)
|
rs779900587
|
0.00001
|
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu)
|
rs773648142
|
0.00001
|
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr)
|
rs746556970
|
0.00001
|
NM_144997.7(FLCN):c.251G>T (p.Gly84Val)
|
rs1386417463
|
0.00001
|
NM_144997.7(FLCN):c.451G>A (p.Val151Met)
|
rs147164515
|
0.00001
|
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)
|
rs1040675580
|
0.00001
|
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys)
|
rs765251703
|
0.00001
|
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)
|
rs774358971
|
0.00001
|
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)
|
rs1407566775
|
0.00001
|
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln)
|
rs756807584
|
0.00001
|
NM_144997.7(FLCN):c.619-8C>T
|
rs1274815686
|
0.00001
|
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr)
|
rs370074267
|
0.00001
|
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)
|
rs371401039
|
0.00001
|
NM_144997.7(FLCN):c.748C>A (p.Leu250Met)
|
rs898441209
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NM_144997.7(FLCN):c.780-13C>T
|
rs777670469
|
0.00001
|
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu)
|
rs748031634
|
0.00001
|
NM_144997.7(FLCN):c.981A>G (p.Ala327=)
|
rs763078516
|
0.00001
|
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe)
|
rs770027312
|
0.00001
|
16p11.2 recurrent region (BP4-BP5)
|
|
|
46,XY,der(21)t(9;21)(p11;p12)
|
|
|
GATA3, 250-KB DEL
|
|
|
GATA3, 900-KB DEL
|
|
|
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)
|
|
|
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)
|
|
|
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)
|
|
|
GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)
|
|
|
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3
|
|
|
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)
|
|
|
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)
|
|
|
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1
|
|
|
GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1
|
|
|
GRCh37/hg19 11p11.2(chr11:43769957-44952669)
|
|
|
GRCh37/hg19 11p13(chr11:31541617-31813509)
|
|
|
GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1
|
|
|
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1
|
|
|
GRCh37/hg19 11p15.5(chr11:268586-748873)
|
|
|
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)
|
|
|
GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)
|
|
|
GRCh37/hg19 11q25(chr11:133325079-134157243)
|
|
|
GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1
|
|
|
GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1
|
|
|
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4
|
|
|
GRCh37/hg19 13p13-q34(chr13:1-115169878)
|
|
|
GRCh37/hg19 16p11.2(chr16:28349949-29342589)
|
|
|
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:28529940-28906458)
|
|
|
GRCh37/hg19 16p11.2(chr16:28689085-29051191)
|
|
|
GRCh37/hg19 16p11.2(chr16:28734571-29043450)
|
|
|
GRCh37/hg19 16p11.2(chr16:28784627-29230353)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29042050-30199025)
|
|
|
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29532264-30271237)
|
|
|
GRCh37/hg19 16p11.2(chr16:29567295-30178406)
|
|
|
GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29580020-30177916)
|
|
|
GRCh37/hg19 16p11.2(chr16:29580020-30177999)
|
|
|
GRCh37/hg19 16p11.2(chr16:29591078-30177240)
|
|
|
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29595483-30199713)
|
|
|
GRCh37/hg19 16p11.2(chr16:29628661-30306955)
|
|
|
GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29673203-30133233)
|
|
|
GRCh37/hg19 16p11.2(chr16:29673203-30199713)
|
|
|
GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29678569-30199402)
|
|
|
GRCh37/hg19 16p11.2(chr16:29678569-30199578)
|
|
|
GRCh37/hg19 16p11.2(chr16:29727054-29969912)
|
|
|
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29827174-30198041)
|
|
|
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21801889-22431357)
|
|
|
GRCh37/hg19 16p12.2(chr16:21801889-22710614)
|
|
|
GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21884192-22288219)
|
|
|
GRCh37/hg19 16p12.2(chr16:21943463-22702769)
|
|
|
GRCh37/hg19 16p12.2(chr16:21964083-22386845)
|
|
|
GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21973828-22361172)
|
|
|
GRCh37/hg19 16p12.2(chr16:21976691-22386881)
|
|
|
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:14892880-16533890)
|
|
|
GRCh37/hg19 16p13.11(chr16:14892880-16544222)
|
|
|
GRCh37/hg19 16p13.11(chr16:14897625-16494783)
|
|
|
GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
|
|
|
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1
|
|
|
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:109978-4316797)
|
|
|
GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952)
|
|
|
GRCh37/hg19 17p11.2(chr17:16601603-20063369)
|
|
|
GRCh37/hg19 17p11.2(chr17:16664739-20370783)
|
|
|
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3
|
|
|
GRCh37/hg19 17p11.2(chr17:17579860-18469185)
|
|
|
GRCh37/hg19 17p12(chr17:14063251-15449627)
|
|
|
GRCh37/hg19 17p12(chr17:14076989-15473312)
|
|
|
GRCh37/hg19 17p12(chr17:14095256-15477547)x1
|
|
|
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
|
|
|
GRCh37/hg19 17p12(chr17:14101029-15449627)
|
|
|
GRCh37/hg19 17p12(chr17:14104012-15422557)
|
|
|
GRCh37/hg19 17p12(chr17:14104012-15551814)
|
|
|
GRCh37/hg19 17p12(chr17:14105874-15611546)
|
|
|
GRCh37/hg19 17p12(chr17:14110451-15449097)
|
|
|
GRCh37/hg19 17p12(chr17:14128550-15422557)
|
|
|
GRCh37/hg19 17p12(chr17:15133096-15164093)x1
|
|
|
GRCh37/hg19 17p12(chr17:15229779-15265326)x3
|
|
|
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1
|
|
|
GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3
|
|
|
GRCh37/hg19 17p13.3(chr17:525-1464281)
|
|
|
GRCh37/hg19 17p13.3(chr17:84287-2468384)x1
|
|
|
GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1
|
|
|
GRCh37/hg19 17q11.2(chr17:28993036-30412788)
|
|
|
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)
|
|
|
GRCh37/hg19 17q12(chr17:34437475-36214026)
|
|
|
GRCh37/hg19 17q12(chr17:34463923-36410559)
|
|
|
GRCh37/hg19 17q12(chr17:34752221-36105007)x3
|
|
|
GRCh37/hg19 17q12(chr17:34807069-36284994)x1
|
|
|
GRCh37/hg19 17q12(chr17:34815072-36192492)x1
|
|
|
GRCh37/hg19 17q12(chr17:34819191-36104803)
|
|
|
GRCh37/hg19 17q12(chr17:34819191-36194230)
|
|
|
GRCh37/hg19 17q12(chr17:34822465-36410559)
|
|
|
GRCh37/hg19 17q12(chr17:34842059-36214026)
|
|
|
GRCh37/hg19 17q12(chr17:34848678-36194230)
|
|
|
GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)
|
|
|
GRCh37/hg19 17q25.1(chr17:72718277-74142256)
|
|
|
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)
|
|
|
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1
|
|
|
GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)
|
|
|
GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)
|
|
|
GRCh37/hg19 18p11.32-q23(chr18:1-78077248)
|
|
|
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)
|
|
|
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)
|
|
|
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1
|
|
|
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1
|
|
|
GRCh37/hg19 1p36.12-36.11(chr1:23814543-24163928)
|
|
|
GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)
|
|
|
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1
|
|
|
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1
|
|
|
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)
|
|
|
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)
|
|
|
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)
|
|
|
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1
|
|
|
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1
|
|
|
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)
|
|
|
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)
|
|
|
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)
|
|
|
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3
|
|
|
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3
|
|
|
GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3
|
|
|
GRCh37/hg19 1q21.1(chr1:145382123-145792051)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145765424-147142037)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145768022-148020154)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147819294)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147831000)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146101790-147832190)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146145424-147929323)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678)
|
|
|
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3
|
|
|
GRCh37/hg19 1q42.11-42.12(chr1:224432682-225142704)
|
|
|
GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)
|
|
|
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3
|
|
|
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)
|
|
|
GRCh37/hg19 2q13(chr2:110824957-110983703)
|
|
|
GRCh37/hg19 2q22.3-23.1(chr2:148698834-148954778)
|
|
|
GRCh37/hg19 2q23.1(chr2:149220152-149633312)
|
|
|
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1
|
|
|
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1
|
|
|
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)
|
|
|
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)
|
|
|
GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1
|
|
|
GRCh37/hg19 2q33.1(chr2:200213361-200233633)
|
|
|
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1
|
|
|
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)
|
|
|
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)
|
|
|
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)
|
|
|
GRCh37/hg19 2q37.3(chr2:238795602-242918203)
|
|
|
GRCh37/hg19 2q37.3(chr2:239071623-243048760)
|
|
|
GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1
|
|
|
GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)
|
|
|
GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1
|
|
|
GRCh37/hg19 3q13.31(chr3:113623035-114368128)x1
|
|
|
GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3
|
|
|
GRCh37/hg19 3q29(chr3:194790394-197961930)x3
|
|
|
GRCh37/hg19 3q29(chr3:195703615-197386180)
|
|
|
GRCh37/hg19 3q29(chr3:195756054-197344665)x1
|
|
|
GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)
|
|
|
GRCh37/hg19 4p16.3(chr4:1305802-2460571)
|
|
|
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)
|
|
|
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)
|
|
|
GRCh37/hg19 5p13.2(chr5:36780915-37073813)x3
|
|
|
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)
|
|
|
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)
|
|
|
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)
|
|
|
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)
|
|
|
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)
|
|
|
GRCh37/hg19 5q14.3(chr5:88065061-88406446)
|
|
|
GRCh37/hg19 5q22.2(chr5:112155123-112174165)x1
|
|
|
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3
|
|
|
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1
|
|
|
GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)
|
|
|
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)
|
|
|
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)
|
|
|
GRCh37/hg19 7q11.23(chr7:72589195-74225562)
|
|
|
GRCh37/hg19 7q11.23(chr7:72589515-74629034)
|
|
|
GRCh37/hg19 7q11.23(chr7:72645013-74142190)
|
|
|
GRCh37/hg19 7q11.23(chr7:72664461-74162586)
|
|
|
GRCh37/hg19 7q11.23(chr7:72686958-74155067)
|
|
|
GRCh37/hg19 7q11.23(chr7:72700127-74142190)
|
|
|
GRCh37/hg19 7q11.23(chr7:72700942-74142190)
|
|
|
GRCh37/hg19 7q11.23(chr7:72700996-74142190)
|
|
|
GRCh37/hg19 7q11.23(chr7:72700996-74142256)
|
|
|
GRCh37/hg19 7q11.23(chr7:72701084-74142190)
|
|
|
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3
|
|
|
GRCh37/hg19 7q11.23(chr7:72717395-74173168)
|
|
|
GRCh37/hg19 7q11.23(chr7:72718123-74141784)
|
|
|
GRCh37/hg19 7q11.23(chr7:72718123-74142190)
|
|
|
GRCh37/hg19 7q11.23(chr7:72718277-74142256)
|
|
|
GRCh37/hg19 7q11.23(chr7:72721449-73959106)
|
|
|
GRCh37/hg19 7q11.23(chr7:72744494-74339044)
|
|
|
GRCh37/hg19 7q11.23(chr7:72744494-76038818)
|
|
|
GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3
|
|
|
GRCh37/hg19 7q11.23(chr7:72772522-74133319)
|
|
|
GRCh37/hg19 7q11.23(chr7:72921550-74145628)
|
|
|
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
|
|
|
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3
|
|
|
GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1
|
|
|
GRCh37/hg19 8q21.12-21.13(chr8:79982581-80674788)
|
|
|
GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4
|
|
|
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)
|
|
|
GRCh37/hg19 8q24.3(chr8:144879444-145199846)
|
|
|
GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1
|
|
|
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)
|
|
|
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1
|
|
|
GRCh37/hg19 9p24.3-23(chr9:203861-12127088)
|
|
|
GRCh37/hg19 9p24.3-23(chr9:203861-12570076)
|
|
|
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)
|
|
|
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)
|
|
|
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
|
|
|
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1
|
|
|
GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3
|
|
|
GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3
|
|
|
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3
|
|
|
GRCh38/hg38 17q12(chr17:36486532-37745203)x1
|
|
|
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1
|
|
|
GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)
|
|
|
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3
|
|
|
GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)
|
|
|
GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)
|
|
|
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)
|
|
|
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
|
|
|
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1
|
|
|
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)
|
|
|
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1
|
|
|
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1
|
|
|
GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1
|
|
|
GRCh38/hg38 7q11.23(chr7:73229597-74727852)
|
|
|
MBD5, THR157GLNFSTER4
|
|
|
NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4
|
|
|
NC_000001.10:g.4481271_20530242del
|
|
|
NC_000001.10:g.61497698_61607171del
|
|
|
NC_000001.11:g.(146472798_148439081)dup
|
rs2101549505
|
|
NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del
|
|
|
NC_000002.10:g.146798229_150310317del
|
|
|
NC_000002.10:g.148447496_149377297del
|
|
|
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.(199364049_199364051)_(199399060_199399062)dup
|
|
|
NC_000002.12:g.(211789273_236710421)dup
|
rs2106321147
|
|
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_000002.12:g.219102933_219134970dup
|
|
|
NC_000003.11:g.9387774_9503839del116066
|
|
|
NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup
|
|
|
NC_000005.10:g.(?_177131798)_(177300213_)?)del
|
|
|
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.126508361_126769360del
|
|
|
NC_000005.10:g.88731902del
|
|
|
NC_000005.10:g.88846693_89051376delinsG
|
|
|
NC_000005.9:g.(?_126102443)_(126199753_?)dup
|
|
|
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_000005.9:g.(?_88625195)_(90796047_?)inv
|
|
|
NC_000006.12:g.(?_150381239)_(159553952_?)del
|
|
|
NC_000007.14:g.(75058300_?)_(?_79083658)del
|
|
|
NC_000007.14:g.73304277_74727414del
|
|
|
NC_000007.14:g.73773313_74086695del
|
|
|
NC_000009.12:g.1_190938del
|
|
|
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.104288964_134937416dup
|
|
|
NC_000012.11:g.23979791_24033225del
|
|
|
NC_000012.12:g.23484745_23564581del
|
|
|
NC_000012.12:g.23488792_23626279del
|
|
|
NC_000012.12:g.23771866_23888764del
|
|
|
NC_000014.9:g.100489287_100900640del411354
|
|
|
NC_000014.9:g.100720531_100829298del108768
|
|
|
NC_000014.9:g.100806482_101281031del474550
|
|
|
NC_000014.9:g.100824888_100829190delins100833642_100833702
|
|
|
NC_000016.10:g.21936825_22429665del
|
|
|
NC_000016.10:g.29640592_30187862del
|
|
|
NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del
|
|
|
NC_000017.10:g.(?_15133094)_(15164078_?)dup
|
|
|
NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del
|
|
|
NC_000017.11:g.(?_14440201)_(15475424_?)dup
|
|
|
NC_000017.11:g.1227482_1458196dup
|
|
|
NC_000017.11:g.15133096_15164093dup
|
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NG_011787.1:g.(205313_260238)_(334455_354191)del
|
|
|
NG_017003.3:g.262835_474705del
|
|
|
NM_000304.4(PMP22):c.*105CAAAC[2]
|
rs112829799
|
|
NM_000304.4(PMP22):c.*376C>T
|
rs575964802
|
|
NM_000304.4(PMP22):c.*525CT[1]
|
rs71699667
|
|
NM_000304.4(PMP22):c.*596G>T
|
rs1205135654
|
|
NM_000304.4(PMP22):c.*63A>C
|
rs1906244590
|
|
NM_000304.4(PMP22):c.*818T>C
|
rs529200588
|
|
NM_000304.4(PMP22):c.*911C>T
|
rs1015965333
|
|
NM_000304.4(PMP22):c.*961C>G
|
rs760879114
|
|
NM_000304.4(PMP22):c.102C>A (p.His34Gln)
|
rs779654897
|
|
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
|
|
|
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
|
rs1907131144
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623
|
|
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)
|
rs587776691
|
|
NM_000304.4(PMP22):c.206T>A (p.Met69Lys)
|
rs104894620
|
|
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)
|
rs104894621
|
|
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
|
rs863225027
|
|
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618
|
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
rs189205303
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
rs1597607713
|
|
NM_000304.4(PMP22):c.341C>T (p.Ala114Val)
|
rs1217342392
|
|
NM_000304.4(PMP22):c.35A>G (p.His12Arg)
|
rs1909248652
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985
|
|
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
|
rs1597597683
|
|
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
|
rs1597597678
|
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
rs1555564040
|
|
NM_000304.4(PMP22):c.433dup (p.Leu145fs)
|
rs1567698872
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625
|
|
NM_000304.4(PMP22):c.68C>T (p.Thr23Met)
|
|
|
NM_000304.4(PMP22):c.78+3G>T
|
rs1597635528
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000501.3(ELN):c.-70G>C
|
rs537200597
|
|
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)
|
rs1794880739
|
|
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
|
rs199621188
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)
|
rs863223529
|
|
NM_000501.4(ELN):c.166del (p.Leu56fs)
|
rs2131266202
|
|
NM_001002295.2(GATA3):c.*264_*265dup
|
rs3839918
|
|
NM_001002295.2(GATA3):c.*265dup
|
rs3839918
|
|
NM_001002295.2(GATA3):c.*356G>A
|
rs886047302
|
|
NM_001002295.2(GATA3):c.*588C>A
|
rs1832985629
|
|
NM_001002295.2(GATA3):c.*592G>A
|
rs1832985780
|
|
NM_001002295.2(GATA3):c.*598G>A
|
rs187150410
|
|
NM_001002295.2(GATA3):c.*647A>G
|
rs563624409
|
|
NM_001002295.2(GATA3):c.*714G>A
|
rs886047303
|
|
NM_001002295.2(GATA3):c.*747G>A
|
rs899862408
|
|
NM_001002295.2(GATA3):c.*863T>A
|
rs1832990708
|
|
NM_001002295.2(GATA3):c.*895T>G
|
rs886047305
|
|
NM_001002295.2(GATA3):c.-287G>A
|
rs886047298
|
|
NM_001002295.2(GATA3):c.-370+28del
|
rs397846644
|
|
NM_001002295.2(GATA3):c.-370+28dup
|
rs397846644
|
|
NM_001002295.2(GATA3):c.-413C>T
|
rs540527013
|
|
NM_001002295.2(GATA3):c.-503_-502dup
|
rs60098638
|
|
NM_001002295.2(GATA3):c.-80C>T
|
rs569360560
|
|
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr)
|
rs387906621
|
|
NM_001002295.2(GATA3):c.1050+2T>C
|
rs1832899364
|
|
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys)
|
rs1564405163
|
|
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)
|
rs1564405163
|
|
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser)
|
rs104894165
|
|
NM_001002295.2(GATA3):c.108_109del (p.Met36fs)
|
rs1588374920
|
|
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)
|
rs104894164
|
|
NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met)
|
|
|
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala)
|
rs1832975214
|
|
NM_001002295.2(GATA3):c.257G>A (p.Arg86His)
|
rs1245137314
|
|
NM_001002295.2(GATA3):c.273T>A (p.His91Gln)
|
rs2131488207
|
|
NM_001002295.2(GATA3):c.324del (p.Ala109fs)
|
rs1832680700
|
|
NM_001002295.2(GATA3):c.327C>T (p.Ala109=)
|
rs1832681004
|
|
NM_001002295.2(GATA3):c.332_333dup (p.Trp112fs)
|
|
|
NM_001002295.2(GATA3):c.352_353del (p.Ser118fs)
|
rs2131488650
|
|
NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup)
|
rs547425013
|
|
NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)
|
rs2131488863
|
|
NM_001002295.2(GATA3):c.389del (p.Leu130fs)
|
rs2131488953
|
|
NM_001002295.2(GATA3):c.404del (p.Pro135fs)
|
rs772396478
|
|
NM_001002295.2(GATA3):c.431del (p.Gly144fs)
|
rs1588377948
|
|
NM_001002295.2(GATA3):c.431dup (p.His145fs)
|
rs1588377948
|
|
NM_001002295.2(GATA3):c.465_513del (p.Thr156fs)
|
|
|
NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)
|
|
|
NM_001002295.2(GATA3):c.478del (p.Asp160fs)
|
rs1588378126
|
|
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu)
|
rs143627754
|
|
NM_001002295.2(GATA3):c.480C>T (p.Asp160=)
|
rs143627754
|
|
NM_001002295.2(GATA3):c.492C>T (p.Asp164=)
|
rs1832688600
|
|
NM_001002295.2(GATA3):c.52G>A (p.Val18Met)
|
|
|
NM_001002295.2(GATA3):c.639_648del (p.Ser214fs)
|
|
|
NM_001002295.2(GATA3):c.675C>A (p.Tyr225Ter)
|
rs763575837
|
|
NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs)
|
rs878853222
|
|
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr)
|
rs148835259
|
|
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala)
|
rs148835259
|
|
NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser)
|
rs148835259
|
|
NM_001002295.2(GATA3):c.708C>A (p.Pro236=)
|
rs143582578
|
|
NM_001002295.2(GATA3):c.708del (p.Ser237fs)
|
rs771019738
|
|
NM_001002295.2(GATA3):c.708dup (p.Ser237fs)
|
rs771019738
|
|
NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser)
|
rs11567901
|
|
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)
|
rs1832698457
|
|
NM_001002295.2(GATA3):c.778+1G>A
|
rs2131491404
|
|
NM_001002295.2(GATA3):c.779-1G>C
|
rs2131500277
|
|
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)
|
rs767074039
|
|
NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro)
|
|
|
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg)
|
rs104894163
|
|
NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)
|
|
|
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter)
|
rs104894162
|
|
NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr)
|
|
|
NM_001002295.2(GATA3):c.863G>C (p.Cys288Ser)
|
|
|
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp)
|
rs746122348
|
|
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu)
|
rs2131501118
|
|
NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs)
|
rs2131501178
|
|
NM_001002295.2(GATA3):c.924+1G>A
|
|
|
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC
|
rs387906551
|
|
NM_001002295.2(GATA3):c.924+3_924+6del
|
|
|
NM_001002295.2(GATA3):c.925-3_925-2del
|
rs763236375
|
|
NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del)
|
rs2131511647
|
|
NM_001002295.2(GATA3):c.951del (p.Cys318fs)
|
rs2131511714
|
|
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)
|
rs1832898282
|
|
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg)
|
rs1716385543
|
|
NM_001042424.3(NSD2):c.*1370dup
|
rs886059325
|
|
NM_001042424.3(NSD2):c.*2012dup
|
rs766138833
|
|
NM_001042424.3(NSD2):c.*339CTC[1]
|
rs375129793
|
|
NM_001042424.3(NSD2):c.-29-6901dup
|
rs886059308
|
|
NM_001042424.3(NSD2):c.1569dup (p.Lys524fs)
|
rs1560696317
|
|
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys)
|
rs2108958817
|
|
NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs)
|
|
|
NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter)
|
rs1725000714
|
|
NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs)
|
rs2108971782
|
|
NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys)
|
rs2108976523
|
|
NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter)
|
rs1560602800
|
|
NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter)
|
rs1560635105
|
|
NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn)
|
|
|
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter)
|
rs2045177486
|
|
NM_001080779.2(MYO1C):c.75+5G>A
|
|
|
NM_001130053.5(EEF1D):c.1488+1G>A
|
|
|
NM_001134673.4(NFIA):c.100C>T (p.Gln34Ter)
|
rs2100414066
|
|
NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter)
|
rs2100414085
|
|
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs)
|
rs2100520890
|
|
NM_001134673.4(NFIA):c.1094del (p.Pro365fs)
|
rs1060505054
|
|
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)
|
rs1665711818
|
|
NM_001134673.4(NFIA):c.149_153del (p.Lys50fs)
|
rs2100414172
|
|
NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)
|
|
|
NM_001134673.4(NFIA):c.243dup (p.Asp82fs)
|
rs1646257371
|
|
NM_001134673.4(NFIA):c.248del (p.Ile83fs)
|
rs2100414350
|
|
NM_001134673.4(NFIA):c.28-2A>G
|
rs1646253231
|
|
NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)
|
|
|
NM_001134673.4(NFIA):c.297dup (p.Pro100fs)
|
rs1553149202
|
|
NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)
|
|
|
NM_001134673.4(NFIA):c.352G>C (p.Asp118His)
|
rs1570123287
|
|
NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu)
|
rs769522583
|
|
NM_001134673.4(NFIA):c.442G>T (p.Glu148Ter)
|
rs2100414767
|
|
NM_001134673.4(NFIA):c.467G>C (p.Cys156Ser)
|
|
|
NM_001134673.4(NFIA):c.504A>G (p.Ile168Met)
|
|
|
NM_001134673.4(NFIA):c.647G>C (p.Ser216Thr)
|
|
|
NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter)
|
rs1064794841
|
|
NM_001134673.4(NFIA):c.89G>A (p.Trp30Ter)
|
rs1646254633
|
|
NM_001143820.2(ETS1):c.1044_1049delinsTT (p.Lys349fs)
|
rs1565372210
|
|
NM_001145512.2(NFIA):c.104+5G>C
|
rs992223479
|
|
NM_001172509.1(SATB2):c.170_346dup
|
rs2105928778
|
|
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.1016del (p.Phe339fs)
|
|
|
NM_001172509.2(SATB2):c.1019del (p.Leu340fs)
|
|
|
NM_001172509.2(SATB2):c.1022_1029del (p.Asn341fs)
|
|
|
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.1103_1106del (p.Val368fs)
|
rs1574532220
|
|
NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)
|
|
|
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.1131_1132del (p.Ser378fs)
|
rs875989830
|
|
NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter)
|
rs1688726794
|
|
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly)
|
rs1559174854
|
|
NM_001172509.2(SATB2):c.1153del (p.Val385fs)
|
rs2105822848
|
|
NM_001172509.2(SATB2):c.1155G>A (p.Val385=)
|
|
|
NM_001172509.2(SATB2):c.115dup (p.Ser39fs)
|
|
|
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.1169C>T (p.Thr390Ile)
|
rs863224917
|
|
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter)
|
rs1559174813
|
|
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro)
|
rs2105822776
|
|
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.1174-2A>G
|
|
|
NM_001172509.2(SATB2):c.1174G>A (p.Gly392Arg)
|
rs1688108689
|
|
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg)
|
rs1688108689
|
|
NM_001172509.2(SATB2):c.1179G>A (p.Leu393=)
|
|
|
NM_001172509.2(SATB2):c.117C>T (p.Ser39=)
|
|
|
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln)
|
rs1559164403
|
|
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.1196G>A (p.Arg399His)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.1203A>G (p.Glu401=)
|
rs1574511020
|
|
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)
|
|
|
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs)
|
rs1574510975
|
|
NM_001172509.2(SATB2):c.1221C>T (p.Ala407=)
|
|
|
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
|
|
|
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
|
|
|
NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro)
|
rs2105795469
|
|
NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys)
|
rs1341868380
|
|
NM_001172509.2(SATB2):c.1249del (p.Ala417fs)
|
|
|
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.1298A>C (p.Tyr433Ser)
|
rs1688103993
|
|
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val)
|
rs1688103803
|
|
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.138del (p.Arg46fs)
|
|
|
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.1423_1424insCTTAAT (p.Lys475delinsThrTer)
|
|
|
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.1486A>G (p.Lys496Glu)
|
|
|
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
|
|
|
NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter)
|
rs878853163
|
|
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.1504del (p.Gln502fs)
|
rs1687958384
|
|
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.150del (p.Val51fs)
|
rs2105957137
|
|
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.1543G>A (p.Gly515Ser)
|
rs1553544187
|
|
NM_001172509.2(SATB2):c.1551G>A (p.Leu517=)
|
rs760937399
|
|
NM_001172509.2(SATB2):c.1555G>A (p.Glu519Lys)
|
|
|
NM_001172509.2(SATB2):c.1558C>G (p.Leu520Val)
|
|
|
NM_001172509.2(SATB2):c.1558C>T (p.Leu520=)
|
|
|
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)
|
rs1223371144
|
|
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
|
|
|
NM_001172509.2(SATB2):c.1577A>T (p.Asn526Ile)
|
rs2105769212
|
|
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
|
|
|
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.1610del (p.Asn537fs)
|
rs1574492395
|
|
NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)
|
|
|
NM_001172509.2(SATB2):c.1625G>A (p.Arg542His)
|
rs2105769137
|
|
NM_001172509.2(SATB2):c.1627del (p.Arg543fs)
|
rs1135401803
|
|
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
|
|
|
NM_001172509.2(SATB2):c.162C>T (p.Ala54=)
|
rs2105957105
|
|
NM_001172509.2(SATB2):c.1634T>C (p.Leu545Pro)
|
|
|
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.1705dup (p.Gln569fs)
|
rs2105768966
|
|
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.1741-2A>C
|
|
|
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.1808_1817del (p.Pro603fs)
|
rs1692192971
|
|
NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)
|
|
|
NM_001172509.2(SATB2):c.1818G>A (p.Pro606=)
|
rs141436870
|
|
NM_001172509.2(SATB2):c.1826del (p.Asp609fs)
|
rs1574459072
|
|
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.1945dup (p.Ser649fs)
|
rs1559136052
|
|
NM_001172509.2(SATB2):c.1962C>T (p.Leu654=)
|
|
|
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)
|
rs1553538919
|
|
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.2018dup (p.His673fs)
|
rs1559136015
|
|
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.2074G>T (p.Glu692Ter)
|
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.2104del (p.Asp702fs)
|
|
|
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>A (p.Tyr75Ter)
|
rs1357010510
|
|
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.344_346+1dup
|
|
|
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.346+2T>G
|
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.353T>C (p.Ile118Thr)
|
|
|
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.430C>T (p.Gln144Ter)
|
|
|
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.473+1G>A
|
|
|
NM_001172509.2(SATB2):c.474-11C>G
|
|
|
NM_001172509.2(SATB2):c.474-14G>A
|
|
|
NM_001172509.2(SATB2):c.474-2A>G
|
rs1574566973
|
|
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.553_554insT (p.Glu185fs)
|
rs1574566833
|
|
NM_001172509.2(SATB2):c.554del (p.Glu185fs)
|
rs2105865877
|
|
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
|
|
|
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+1G>A
|
rs1559016679
|
|
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.622dup (p.Ser208fs)
|
|
|
NM_001172509.2(SATB2):c.627A>G (p.Thr209=)
|
rs1689357972
|
|
NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter)
|
rs2105850080
|
|
NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)
|
|
|
NM_001172509.2(SATB2):c.63G>A (p.Pro21=)
|
rs2105957272
|
|
NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)
|
|
|
NM_001172509.2(SATB2):c.663G>A (p.Glu221=)
|
|
|
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
|
|
|
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter)
|
rs1553493553
|
|
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+17G>A
|
rs1689356095
|
|
NM_001172509.2(SATB2):c.700+1G>A
|
|
|
NM_001172509.2(SATB2):c.700+20T>C
|
|
|
NM_001172509.2(SATB2):c.700+5290A>G
|
rs2105843329
|
|
NM_001172509.2(SATB2):c.700+6del
|
rs1574554422
|
|
NM_001172509.2(SATB2):c.700+9dup
|
|
|
NM_001172509.2(SATB2):c.700G>A (p.Val234Met)
|
|
|
NM_001172509.2(SATB2):c.701-12A>C
|
rs116585116
|
|
NM_001172509.2(SATB2):c.701-12A>T
|
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.721_722del (p.Asn241fs)
|
rs1688740919
|
|
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.734A>G (p.Tyr245Cys)
|
|
|
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter)
|
rs1558995207
|
|
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.75del (p.Pro26fs)
|
rs1574645416
|
|
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.805G>T (p.Glu269Ter)
|
|
|
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.823C>T (p.Gln275Ter)
|
rs1688736712
|
|
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.866T>G (p.Leu289Ter)
|
|
|
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.88A>G (p.Lys30Glu)
|
rs1574645369
|
|
NM_001172509.2(SATB2):c.8G>C (p.Arg3Pro)
|
|
|
NM_001172509.2(SATB2):c.909T>C (p.Ser303=)
|
|
|
NM_001172509.2(SATB2):c.911C>T (p.Pro304Leu)
|
rs2105823252
|
|
NM_001172509.2(SATB2):c.912A>T (p.Pro304=)
|
|
|
NM_001172509.2(SATB2):c.913C>T (p.Gln305Ter)
|
|
|
NM_001172509.2(SATB2):c.917T>A (p.Leu306His)
|
rs1688732391
|
|
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
|
|
|
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter)
|
rs1574532452
|
|
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.955C>T (p.Gln319Ter)
|
|
|
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_001172517.1(SATB2):c.-140-2A>G
|
|
|
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys)
|
rs1156747096
|
|
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg)
|
rs2104921155
|
|
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr)
|
rs796052779
|
|
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)
|
|
|
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg)
|
rs200915287
|
|
NM_001330078.2(NRXN1):c.4070C>G (p.Thr1357Ser)
|
|
|
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg)
|
rs199697191
|
|
NM_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs)
|
rs1558507406
|
|
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup)
|
rs774230140
|
|
NM_001368894.2(PAX6):c.*107G>C
|
rs886048201
|
|
NM_001368894.2(PAX6):c.*183dup
|
rs886048200
|
|
NM_001368894.2(PAX6):c.*356del
|
rs200391530
|
|
NM_001368894.2(PAX6):c.-147_-146dup
|
rs886048205
|
|
NM_001368894.2(PAX6):c.-501del
|
rs886048208
|
|
NM_001368894.2(PAX6):c.-507T>C
|
rs886048209
|
|
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)
|
rs1949622831
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.184-8C>T
|
rs886048203
|
|
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro)
|
rs1167005463
|
|
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)
|
rs747077748
|
|
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)
|
rs886048202
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
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.1023_1024delinsGA (p.Pro342Thr)
|
|
|
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.1119del (p.Val374fs)
|
rs1680695228
|
|
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.1249_1263del (p.Met417_Ser421del)
|
rs1559086500
|
|
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.1256A>G (p.His419Arg)
|
rs1680702734
|
|
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.136T>C (p.Cys46Arg)
|
rs139186486
|
|
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.1438C>T (p.Gln480Ter)
|
|
|
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.14_15del (p.Lys5fs)
|
|
|
NM_001378120.1(MBD5):c.1503G>A (p.Arg501=)
|
|
|
NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr)
|
|
|
NM_001378120.1(MBD5):c.150del (p.Thr52fs)
|
rs398122412
|
|
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.1756G>A (p.Ala586Thr)
|
|
|
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.1A>G (p.Met1Val)
|
|
|
NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn)
|
|
|
NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs)
|
|
|
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.2153A>G (p.Asn718Ser)
|
|
|
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.217-1G>C
|
rs1707171202
|
|
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.2380G>A (p.Gly794Arg)
|
rs2105642407
|
|
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.2393A>G (p.Gln798Arg)
|
rs1680753685
|
|
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.2414A>T (p.Asn805Ile)
|
|
|
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.2548A>G (p.Ile850Val)
|
rs1574476665
|
|
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.2612T>C (p.Val871Ala)
|
rs753164504
|
|
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.2645A>T (p.Gln882Leu)
|
rs151173122
|
|
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.278A>G (p.Asp93Gly)
|
|
|
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.316_319dup (p.Ile107fs)
|
|
|
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.340_347del (p.Lys114fs)
|
rs794727928
|
|
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.3718A>G (p.Asn1240Asp)
|
|
|
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.3797G>T (p.Ser1266Ile)
|
rs2105123807
|
|
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.3828dup (p.Asn1277fs)
|
rs2105124073
|
|
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.4031C>T (p.Thr1344Ile)
|
|
|
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.4160A>G (p.His1387Arg)
|
|
|
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.431C>T (p.Thr144Ile)
|
rs1553518402
|
|
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.4333T>G (p.Tyr1445Asp)
|
rs1681469923
|
|
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.4387A>T (p.Arg1463Trp)
|
|
|
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>G (p.Ser147Ter)
|
rs886041003
|
|
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.4439T>C (p.Ile1480Thr)
|
|
|
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.4540G>C (p.Glu1514Gln)
|
rs1296916399
|
|
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>A (p.Pro1613Thr)
|
rs773779478
|
|
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.4934C>A (p.Ser1645Ter)
|
rs1559099927
|
|
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.4946del (p.Ser1649fs)
|
|
|
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.4963-2A>T
|
rs2105225632
|
|
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.5085G>A (p.Met1695Ile)
|
rs1682172933
|
|
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.5153C>T (p.Pro1718Leu)
|
rs1682261070
|
|
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.728del (p.Pro243fs)
|
rs1680676671
|
|
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.830C>G (p.Ser277Ter)
|
rs1029755113
|
|
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.890_891del (p.Ile297fs)
|
rs796052719
|
|
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.936dup (p.Pro313fs)
|
rs2105627349
|
|
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_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter)
|
rs2040205774
|
|
NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs)
|
rs748900140
|
|
NM_001378414.1(HDAC4):c.490+56_490+120del
|
|
|
NM_001378414.1(HDAC4):c.602A>G (p.Tyr201Cys)
|
|
|
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)
|
rs1064797002
|
|
NM_001378414.1(HDAC4):c.95-98del
|
rs74761897
|
|
NM_001379291.1(BRD4):c.3282+2T>C
|
|
|
NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser)
|
rs745976416
|
|
NM_001386298.1(CIC):c.2917C>T (p.His973Tyr)
|
|
|
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)
|
rs1064797086
|
|
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)
|
rs2147306077
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)
|
rs2147307511
|
|
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)
|
rs782326935
|
|
NM_002397.4:c.(?_-1)_(*1_?)del
|
|
|
NM_002397.5(MEF2C):c.-142-25787T>G
|
rs2153377579
|
|
NM_002397.5(MEF2C):c.-26C>T
|
rs758320958
|
|
NM_002397.5(MEF2C):c.-66A>T
|
rs1350600010
|
|
NM_002397.5(MEF2C):c.-8C>T
|
rs2153222958
|
|
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.104T>G (p.Leu35Arg)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.1056G>A (p.Gln352=)
|
|
|
NM_002397.5(MEF2C):c.105G>A (p.Leu35=)
|
|
|
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
|
|
|
NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)
|
|
|
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.110T>C (p.Val37Ala)
|
rs1799677960
|
|
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.113T>A (p.Leu38Gln)
|
rs397514655
|
|
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro)
|
rs397514655
|
|
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly)
|
rs2153074606
|
|
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=)
|
rs34381004
|
|
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
|
|
|
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn)
|
rs1756812909
|
|
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.1319G>A (p.Arg440Gln)
|
rs1360994640
|
|
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.134T>C (p.Leu45Pro)
|
|
|
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.1403C>T (p.Ser468Phe)
|
rs607159
|
|
NM_002397.5(MEF2C):c.168G>A (p.Gln56=)
|
|
|
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
|
rs2153074319
|
|
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
|
rs1554139743
|
|
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)
|
rs2153222922
|
|
NM_002397.5(MEF2C):c.192dup (p.Val65fs)
|
rs1580988138
|
|
NM_002397.5(MEF2C):c.194T>C (p.Val65Ala)
|
rs1580988074
|
|
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)
|
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.210delinsTAC (p.Glu71fs)
|
|
|
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
|
|
|
NM_002397.5(MEF2C):c.21G>T (p.Gln7His)
|
rs1554150584
|
|
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter)
|
rs2153074000
|
|
NM_002397.5(MEF2C):c.225G>T (p.Pro75=)
|
rs779924552
|
|
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
|
|
|
NM_002397.5(MEF2C):c.235C>A (p.Arg79=)
|
rs1021588454
|
|
NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp)
|
|
|
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.258+5G>C
|
rs2153073717
|
|
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
|
rs796052724
|
|
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.2T>C (p.Met1Thr)
|
rs545185248
|
|
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+145A>G
|
rs1777617806
|
|
NM_002397.5(MEF2C):c.402+146C>A
|
rs1358670337
|
|
NM_002397.5(MEF2C):c.402+184del
|
rs2152669802
|
|
NM_002397.5(MEF2C):c.402+19del
|
|
|
NM_002397.5(MEF2C):c.402+1G>A
|
|
|
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.411del (p.Pro138fs)
|
rs1581753788
|
|
NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
|
|
|
NM_002397.5(MEF2C):c.413del (p.Pro138fs)
|
rs1581753587
|
|
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
|
|
|
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
|
|
|
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.44G>C (p.Arg15Pro)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.456C>T (p.His152=)
|
rs1554112204
|
|
NM_002397.5(MEF2C):c.458del (p.Asn153fs)
|
rs730882192
|
|
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.532C>T (p.Gln178Ter)
|
rs1772953161
|
|
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.638-2A>C
|
rs1554102556
|
|
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.658C>T (p.Arg220Ter)
|
rs1761818173
|
|
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
|
|
|
NM_002397.5(MEF2C):c.66A>G (p.Thr22=)
|
rs2153075042
|
|
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter)
|
rs267607233
|
|
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
|
|
|
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
|
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
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.724C>G (p.Pro242Ala)
|
|
|
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
|
|
|
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.80G>C (p.Gly27Ala)
|
rs397514656
|
|
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.833del (p.Leu277_Leu278insTer)
|
rs587783749
|
|
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.835-2A>G
|
|
|
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.88AAG[1] (p.Lys31del)
|
|
|
NM_002397.5(MEF2C):c.891C>T (p.Ser297=)
|
rs755665375
|
|
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
|
|
|
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
|
|
|
NM_002397.5(MEF2C):c.900T>A (p.Thr300=)
|
|
|
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
|
|
|
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.939_940del (p.Ala314fs)
|
|
|
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.965-2A>G
|
rs1759968705
|
|
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_002397.5(MEF2C):c.99dup (p.Glu34Ter)
|
rs2153074822
|
|
NM_002397.5(MEF2C):c.9A>T (p.Arg3Ser)
|
rs876661308
|
|
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
|
|
|
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
|
|
|
NM_004715.5(CTDP1):c.2418-207_2418-165dup
|
rs147933855
|
|
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
|
rs2086667654
|
|
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
|
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_004933.3(CDH15):c.160G>T (p.Val54Leu)
|
|
|
NM_005411.5(SFTPA1):c.292G>A (p.Gly98Arg)
|
rs1589239722
|
|
NM_005499.3(UBA2):c.800T>A (p.Leu267Ter)
|
rs2075478466
|
|
NM_005573.4(LMNB1):c.*189T>G
|
rs1752249694
|
|
NM_005573.4(LMNB1):c.*629G>A
|
rs761208282
|
|
NM_005573.4(LMNB1):c.*629G>C
|
rs761208282
|
|
NM_005573.4(LMNB1):c.*631G>A
|
rs569902214
|
|
NM_005573.4(LMNB1):c.*634A>G
|
rs1382551348
|
|
NM_005573.4(LMNB1):c.-159C>G
|
rs886059857
|
|
NM_005573.4(LMNB1):c.-76G>T
|
rs1371898314
|
|
NM_005573.4(LMNB1):c.1387-3T>C
|
rs886059859
|
|
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile)
|
|
|
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys)
|
|
|
NM_005573.4(LMNB1):c.89T>A (p.Leu30His)
|
|
|
NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter)
|
|
|
NM_005573.4(LMNB1):c.987T>C (p.Ala329=)
|
rs1751792373
|
|
NM_006940.6(SOX5):c.1017G>A (p.Gln339=)
|
rs2138723102
|
|
NM_006940.6(SOX5):c.1050G>C (p.Gln350His)
|
rs1566239985
|
|
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)
|
rs869025321
|
|
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)
|
rs754590341
|
|
NM_006940.6(SOX5):c.1136del (p.Ser379fs)
|
|
|
NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)
|
|
|
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val)
|
rs780885506
|
|
NM_006940.6(SOX5):c.1292C>T (p.Ala431Val)
|
|
|
NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)
|
|
|
NM_006940.6(SOX5):c.1343-4733C>T
|
rs1947477250
|
|
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)
|
rs1592099852
|
|
NM_006940.6(SOX5):c.1465dup (p.Leu489fs)
|
rs1592099396
|
|
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)
|
rs895607185
|
|
NM_006940.6(SOX5):c.1489-2A>G
|
rs2136075793
|
|
NM_006940.6(SOX5):c.1597+2T>A
|
rs1555141265
|
|
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)
|
rs1591909421
|
|
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys)
|
rs1591908680
|
|
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
|
|
|
NM_006940.6(SOX5):c.1678A>G (p.Met560Val)
|
rs1591908609
|
|
NM_006940.6(SOX5):c.1681A>C (p.Asn561His)
|
rs1591908568
|
|
NM_006940.6(SOX5):c.1694T>A (p.Val565Glu)
|
|
|
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)
|
rs1565669640
|
|
NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)
|
|
|
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)
|
rs773832380
|
|
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys)
|
rs1942462618
|
|
NM_006940.6(SOX5):c.1771+29G>A
|
rs7485662
|
|
NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter)
|
rs1591833842
|
|
NM_006940.6(SOX5):c.1789A>G (p.Met597Val)
|
rs1940534444
|
|
NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter)
|
rs2135894892
|
|
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser)
|
rs1591833522
|
|
NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys)
|
rs1591833522
|
|
NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter)
|
rs1591833497
|
|
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg)
|
rs1341736288
|
|
NM_006940.6(SOX5):c.1862del (p.Pro621fs)
|
|
|
NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)
|
|
|
NM_006940.6(SOX5):c.1867T>C (p.Tyr623His)
|
|
|
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)
|
rs1591833159
|
|
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)
|
rs1135401816
|
|
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro)
|
rs2097171827
|
|
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
|
|
|
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
|
|
|
NM_006940.6(SOX5):c.2283A>C (p.Gln761His)
|
|
|
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile)
|
rs772035716
|
|
NM_006940.6(SOX5):c.291del (p.Met98fs)
|
|
|
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
|
|
|
NM_006940.6(SOX5):c.352C>T (p.Arg118Ter)
|
rs2136047948
|
|
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu)
|
rs1217393451
|
|
NM_006940.6(SOX5):c.392del (p.Thr131fs)
|
|
|
NM_006940.6(SOX5):c.405dup (p.Lys136fs)
|
rs2096571436
|
|
NM_006940.6(SOX5):c.433dup (p.Thr145fs)
|
rs2136046122
|
|
NM_006940.6(SOX5):c.482-2A>C
|
rs1057518845
|
|
NM_006940.6(SOX5):c.518G>A (p.Trp173Ter)
|
rs1594078334
|
|
NM_006940.6(SOX5):c.576C>T (p.Pro192=)
|
|
|
NM_006940.6(SOX5):c.5T>G (p.Leu2Arg)
|
|
|
NM_006940.6(SOX5):c.616A>G (p.Ile206Val)
|
rs2093775713
|
|
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)
|
rs1555307370
|
|
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)
|
rs767241917
|
|
NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
|
|
|
NM_006940.6(SOX5):c.721del (p.Ala241fs)
|
|
|
NM_006940.6(SOX5):c.747_748del (p.Arg250fs)
|
rs1555301854
|
|
NM_006940.6(SOX5):c.755dup (p.Gln253fs)
|
rs2140907114
|
|
NM_006940.6(SOX5):c.798G>T (p.Gln266His)
|
rs2093521806
|
|
NM_006940.6(SOX5):c.804G>T (p.Gln268His)
|
rs2140906671
|
|
NM_006940.6(SOX5):c.814C>T (p.Gln272Ter)
|
|
|
NM_006940.6(SOX5):c.820C>T (p.Gln274Ter)
|
rs1593090725
|
|
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
|
|
|
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
|
|
|
NM_006940.6(SOX5):c.932-2A>C
|
|
|
NM_006940.6(SOX5):c.956del (p.Ile319fs)
|
|
|
NM_006940.6(SOX5):c.959del (p.Pro320fs)
|
rs2079966010
|
|
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala)
|
rs1224542564
|
|
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu)
|
rs1711880083
|
|
NM_012318.3(LETM1):c.393C>A (p.Asn131Lys)
|
rs145996246
|
|
NM_012318.3(LETM1):c.83-19dup
|
rs145853749
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs)
|
rs1554617582
|
|
NM_014709.4(USP34):c.8048-1053_8840+1025del
|
|
|
NM_014991.6(WDFY3):c.7156C>T (p.Arg2386Ter)
|
|
|
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
|
|
|
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)
|
rs199748546
|
|
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)
|
rs2039707751
|
|
NM_016111.4(TELO2):c.1546C>T (p.Arg516Trp)
|
|
|
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
|
|
|
NM_016111.4(TELO2):c.2407+77A>T
|
rs12927760
|
|
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)
|
rs2040070431
|
|
NM_016111.4(TELO2):c.340A>C (p.Ser114Arg)
|
|
|
NM_016111.4(TELO2):c.490C>T (p.Pro164Ser)
|
|
|
NM_016111.4(TELO2):c.925C>T (p.Arg309Trp)
|
|
|
NM_016111.4(TELO2):c.933+11del
|
rs11344586
|
|
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro)
|
rs750187494
|
|
NM_016628.5(WAC):c.-3T>C
|
rs2132290252
|
|
NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)
|
|
|
NM_016628.5(WAC):c.1101dup (p.Pro368fs)
|
rs1841061596
|
|
NM_016628.5(WAC):c.112del (p.Ser38fs)
|
rs864321693
|
|
NM_016628.5(WAC):c.1233del (p.Ser412fs)
|
rs2132825843
|
|
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs)
|
rs2132826154
|
|
NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)
|
|
|
NM_016628.5(WAC):c.1349dup (p.Tyr450Ter)
|
|
|
NM_016628.5(WAC):c.1350T>G (p.Tyr450Ter)
|
rs753403940
|
|
NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)
|
|
|
NM_016628.5(WAC):c.139C>T (p.Arg47Ter)
|
rs368543869
|
|
NM_016628.5(WAC):c.1407del (p.Ser470fs)
|
rs2132834429
|
|
NM_016628.5(WAC):c.1424C>G (p.Ser475Ter)
|
rs2132834581
|
|
NM_016628.5(WAC):c.1437+1G>A
|
rs1554791124
|
|
NM_016628.5(WAC):c.1470_1477del (p.Gln492fs)
|
rs1589247025
|
|
NM_016628.5(WAC):c.1503dup (p.Asp502Ter)
|
rs2132853185
|
|
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter)
|
rs1564421528
|
|
NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)
|
|
|
NM_016628.5(WAC):c.1557-184_1747-188del
|
|
|
NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)
|
|
|
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp)
|
rs1841460217
|
|
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter)
|
rs1554791943
|
|
NM_016628.5(WAC):c.1721G>A (p.Trp574Ter)
|
rs864321690
|
|
NM_016628.5(WAC):c.1746+1G>A
|
rs1554791975
|
|
NM_016628.5(WAC):c.1747-2A>G
|
|
|
NM_016628.5(WAC):c.1788del (p.His597fs)
|
|
|
NM_016628.5(WAC):c.1830_1833dup (p.Val612fs)
|
|
|
NM_016628.5(WAC):c.1837C>T (p.Arg613Ter)
|
rs1085307480
|
|
NM_016628.5(WAC):c.1852C>T (p.Gln618Ter)
|
rs864321634
|
|
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)
|
|
|
NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)
|
|
|
NM_016628.5(WAC):c.1877T>A (p.Ile626Lys)
|
|
|
NM_016628.5(WAC):c.1885_1886del (p.Leu629fs)
|
rs1554792658
|
|
NM_016628.5(WAC):c.207C>A (p.Tyr69Ter)
|
|
|
NM_016628.5(WAC):c.263_266del (p.Glu88fs)
|
rs864321689
|
|
NM_016628.5(WAC):c.265_266del (p.Arg89fs)
|
|
|
NM_016628.5(WAC):c.267_268dup (p.Asp90fs)
|
rs864321691
|
|
NM_016628.5(WAC):c.272del (p.Gly91fs)
|
|
|
NM_016628.5(WAC):c.275-1G>A
|
rs2132628986
|
|
NM_016628.5(WAC):c.275-22319G>T
|
rs2132485043
|
|
NM_016628.5(WAC):c.284dup (p.Tyr95Ter)
|
|
|
NM_016628.5(WAC):c.29_30del (p.Arg10fs)
|
rs754451905
|
|
NM_016628.5(WAC):c.310del (p.His104fs)
|
rs1589196229
|
|
NM_016628.5(WAC):c.374C>A (p.Ser125Ter)
|
rs864321692
|
|
NM_016628.5(WAC):c.381+4_381+7del
|
rs1564400647
|
|
NM_016628.5(WAC):c.405G>A (p.Trp135Ter)
|
rs1839996657
|
|
NM_016628.5(WAC):c.438del (p.Tyr147fs)
|
rs2132669171
|
|
NM_016628.5(WAC):c.451C>T (p.Arg151Ter)
|
rs886041614
|
|
NM_016628.5(WAC):c.460G>A (p.Val154Ile)
|
rs2132669331
|
|
NM_016628.5(WAC):c.464dup (p.Gln156fs)
|
|
|
NM_016628.5(WAC):c.469T>C (p.Trp157Arg)
|
|
|
NM_016628.5(WAC):c.472dup (p.Glu158fs)
|
rs2132669368
|
|
NM_016628.5(WAC):c.497+2T>G
|
|
|
NM_016628.5(WAC):c.498-2A>G
|
rs1135401769
|
|
NM_016628.5(WAC):c.508C>T (p.Gln170Ter)
|
rs1840040809
|
|
NM_016628.5(WAC):c.610+2T>G
|
|
|
NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)
|
|
|
NM_016628.5(WAC):c.670_673del (p.Thr224fs)
|
rs1589219377
|
|
NM_016628.5(WAC):c.67C>T (p.Gln23Ter)
|
rs1836464000
|
|
NM_016628.5(WAC):c.78+1G>A
|
rs2132295469
|
|
NM_016628.5(WAC):c.811C>T (p.Gln271Ter)
|
rs2132709607
|
|
NM_018328.4:c.-925+35305_-557+13791del
|
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
NM_019040.5(ELP4):c.*1811A>C
|
rs185968715
|
|
NM_019040.5(ELP4):c.*2049A>G
|
rs886048181
|
|
NM_019040.5(ELP4):c.*2282G>A
|
rs886048182
|
|
NM_019040.5(ELP4):c.*2334T>G
|
rs886048183
|
|
NM_019040.5(ELP4):c.*2407C>A
|
rs886048184
|
|
NM_019040.5(ELP4):c.*2710CA[2]
|
rs886048186
|
|
NM_019040.5(ELP4):c.*3164_*3165insAAAA
|
rs34919147
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
NM_019040.5(ELP4):c.*3978T>C
|
rs886048192
|
|
NM_019040.5(ELP4):c.*4017A>G
|
rs886048193
|
|
NM_019040.5(ELP4):c.*4025C>G
|
rs886048195
|
|
NM_019040.5(ELP4):c.*4251G>A
|
rs3026396
|
|
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)
|
rs1114167307
|
|
NM_022039.4(FBXW4):c.*381C>G
|
rs2063775084
|
|
NM_022039.4(FBXW4):c.1170G>T (p.Gly390=)
|
rs2064322238
|
|
NM_022039.4(FBXW4):c.1302-9C>T
|
rs771930157
|
|
NM_022039.4(FBXW4):c.1473C>T (p.His491=)
|
rs147424741
|
|
NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser)
|
rs2064658916
|
|
NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly)
|
rs886046645
|
|
NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter)
|
rs886046644
|
|
NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys)
|
rs886046643
|
|
NM_022039.4(FBXW4):c.507G>A (p.Ala169=)
|
rs1404824736
|
|
NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser)
|
rs759941552
|
|
NM_022039.4(FBXW4):c.822-11C>T
|
rs540055383
|
|
NM_022039.4(FBXW4):c.923G>A (p.Arg308His)
|
rs771654851
|
|
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
|
|
|
NM_022455.4(NSD1):c.5408_5411delACTAins9
|
|
|
NM_022455.4:c.5623-?_c.8091+?del
|
|
|
NM_022455.4:c.928-10312_3797-10414del
|
|
|
NM_022455.5(NSD1):c.*216CCAA[1]
|
rs886060444
|
|
NM_022455.5(NSD1):c.*4609_*4611del
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4610_*4611del
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4610_*4611dup
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4611del
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4611dup
|
rs60995782
|
|
NM_022455.5(NSD1):c.*4612del
|
rs886060465
|
|
NM_022455.5(NSD1):c.*565del
|
rs886060446
|
|
NM_022455.5(NSD1):c.*839dup
|
rs886060447
|
|
NM_022455.5(NSD1):c.1014del (p.Cys339fs)
|
|
|
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys)
|
rs1761727286
|
|
NM_022455.5(NSD1):c.1064-10C>T
|
rs1057523596
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
NM_022455.5(NSD1):c.1064-5C>A
|
rs961502921
|
|
NM_022455.5(NSD1):c.1064-6A>T
|
|
|
NM_022455.5(NSD1):c.1064-9C>T
|
|
|
NM_022455.5(NSD1):c.1077del (p.Arg359fs)
|
rs587784068
|
|
NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala)
|
|
|
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu)
|
rs1762710997
|
|
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.1207A>T (p.Lys403Ter)
|
|
|
NM_022455.5(NSD1):c.1236+17G>A
|
rs886038671
|
|
NM_022455.5(NSD1):c.1236+9C>T
|
|
|
NM_022455.5(NSD1):c.1237-90del
|
rs11322143
|
|
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)
|
|
|
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
|
rs1763175962
|
|
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)
|
rs587784071
|
|
NM_022455.5(NSD1):c.1264dup (p.Glu422fs)
|
rs797045804
|
|
NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)
|
|
|
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu)
|
rs367809750
|
|
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His)
|
rs1763178149
|
|
NM_022455.5(NSD1):c.1299del (p.Lys435fs)
|
|
|
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter)
|
rs121908067
|
|
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)
|
rs1270264665
|
|
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr)
|
rs1763180633
|
|
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.1382C>T (p.Thr461Ile)
|
rs776330654
|
|
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.1428G>A (p.Leu476=)
|
rs587784072
|
|
NM_022455.5(NSD1):c.1456del (p.Ser486fs)
|
rs587784073
|
|
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.1549C>T (p.Gln517Ter)
|
rs1131692328
|
|
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.1726_1727del (p.Asn576fs)
|
|
|
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)
|
rs1299932363
|
|
NM_022455.5(NSD1):c.1729A>T (p.Thr577Ser)
|
rs370153971
|
|
NM_022455.5(NSD1):c.1743del (p.Glu581fs)
|
rs794729232
|
|
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val)
|
|
|
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)
|
|
|
NM_022455.5(NSD1):c.1760del (p.Gly587fs)
|
rs1581316964
|
|
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs)
|
rs2149843640
|
|
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.1802dup (p.Cys602fs)
|
rs797045805
|
|
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.1843T>G (p.Cys615Gly)
|
|
|
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer)
|
rs1562206791
|
|
NM_022455.5(NSD1):c.1871T>C (p.Ile624Thr)
|
|
|
NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter)
|
rs1286331975
|
|
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.1921A>G (p.Thr641Ala)
|
rs1763234813
|
|
NM_022455.5(NSD1):c.1925C>A (p.Ser642Tyr)
|
|
|
NM_022455.5(NSD1):c.1925C>T (p.Ser642Phe)
|
|
|
NM_022455.5(NSD1):c.197dup (p.Ser67fs)
|
rs1756220614
|
|
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.2014_2018del (p.Thr672fs)
|
rs587784078
|
|
NM_022455.5(NSD1):c.2025G>A (p.Met675Ile)
|
|
|
NM_022455.5(NSD1):c.2026T>C (p.Leu676=)
|
|
|
NM_022455.5(NSD1):c.2048del (p.Lys683fs)
|
rs587784079
|
|
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
|
rs587784080
|
|
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg)
|
rs1281302772
|
|
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs)
|
rs2149844461
|
|
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter)
|
rs786205576
|
|
NM_022455.5(NSD1):c.2064del (p.Arg688fs)
|
rs587784081
|
|
NM_022455.5(NSD1):c.2073C>T (p.Ala691=)
|
rs1054023528
|
|
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp)
|
rs773782115
|
|
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.2124_2127del (p.His708fs)
|
rs587784082
|
|
NM_022455.5(NSD1):c.2137dup (p.Met713fs)
|
rs1581318949
|
|
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
|
|
|
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs)
|
rs2149844773
|
|
NM_022455.5(NSD1):c.2167dup (p.Thr723fs)
|
rs797045807
|
|
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.2190_2191delinsG (p.Ser731fs)
|
rs797045808
|
|
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.2267A>T (p.Asn756Ile)
|
rs139085502
|
|
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter)
|
rs587784084
|
|
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr)
|
rs1763266375
|
|
NM_022455.5(NSD1):c.2289_2317dup (p.Ala773delinsValArgThrArgTer)
|
rs1581319867
|
|
NM_022455.5(NSD1):c.2290G>C (p.Glu764Gln)
|
|
|
NM_022455.5(NSD1):c.2295del (p.Ser766fs)
|
rs587784085
|
|
NM_022455.5(NSD1):c.2300TAA[1] (p.Ile768del)
|
|
|
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
|
|
|
NM_022455.5(NSD1):c.2314del (p.Ala772fs)
|
rs1554189482
|
|
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)
|
rs1554189490
|
|
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)
|
|
|
NM_022455.5(NSD1):c.2334A>G (p.Leu778=)
|
|
|
NM_022455.5(NSD1):c.2334dup (p.His779fs)
|
rs1554189512
|
|
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)
|
rs201327209
|
|
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter)
|
rs374740802
|
|
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.2428T>C (p.Cys810Arg)
|
|
|
NM_022455.5(NSD1):c.2429G>T (p.Cys810Phe)
|
rs1763281290
|
|
NM_022455.5(NSD1):c.2431_2432insCACTC (p.Ser811fs)
|
|
|
NM_022455.5(NSD1):c.243G>C (p.Met81Ile)
|
rs886042530
|
|
NM_022455.5(NSD1):c.2466_2467del (p.Pro823fs)
|
|
|
NM_022455.5(NSD1):c.2493dup (p.Lys832fs)
|
|
|
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.2613del (p.Ser871_Leu872insTer)
|
rs1581321541
|
|
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs)
|
rs1060501490
|
|
NM_022455.5(NSD1):c.2639del (p.Gly880fs)
|
rs587784087
|
|
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.2654C>A (p.Ser885Ter)
|
rs587784088
|
|
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.26G>T (p.Arg9Ile)
|
|
|
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe)
|
|
|
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs)
|
rs1064794051
|
|
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp)
|
rs886038674
|
|
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
|
|
|
NM_022455.5(NSD1):c.2805T>C (p.Ser935=)
|
|
|
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
|
rs2149846283
|
|
NM_022455.5(NSD1):c.2827del (p.Asp943fs)
|
rs587784089
|
|
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr)
|
rs2095343853
|
|
NM_022455.5(NSD1):c.2853A>C (p.Gly951=)
|
|
|
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter)
|
rs797045809
|
|
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
|
|
|
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.2948dup (p.Gly983_Asp984insTer)
|
rs2149846650
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
NM_022455.5(NSD1):c.2956del (p.Ala986fs)
|
rs587784093
|
|
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe)
|
rs1465577289
|
|
NM_022455.5(NSD1):c.2970G>T (p.Glu990Asp)
|
|
|
NM_022455.5(NSD1):c.2976T>A (p.Ser992=)
|
|
|
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)
|
rs2149846817
|
|
NM_022455.5(NSD1):c.29G>A (p.Arg10Lys)
|
rs1581089074
|
|
NM_022455.5(NSD1):c.3002A>G (p.Asp1001Gly)
|
|
|
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs)
|
rs1554189941
|
|
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs)
|
rs2149846876
|
|
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
|
|
|
NM_022455.5(NSD1):c.3017del (p.Pro1006fs)
|
rs2149846924
|
|
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.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer)
|
rs1554189972
|
|
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)
|
rs1006906224
|
|
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)
|
rs587784094
|
|
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.3109C>T (p.Gln1037Ter)
|
rs2149847258
|
|
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.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.3172C>T (p.Gln1058Ter)
|
rs1763344725
|
|
NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys)
|
|
|
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs)
|
rs587784097
|
|
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.3260_3266del (p.Lys1087fs)
|
rs797045811
|
|
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs)
|
rs1763353656
|
|
NM_022455.5(NSD1):c.3275A>G (p.Gln1092Arg)
|
|
|
NM_022455.5(NSD1):c.3293del (p.Thr1098fs)
|
rs587784099
|
|
NM_022455.5(NSD1):c.3295del (p.Ser1099fs)
|
rs587784100
|
|
NM_022455.5(NSD1):c.3309C>G (p.Asp1103Glu)
|
|
|
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs)
|
rs797045812
|
|
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.3418G>A (p.Val1140Ile)
|
rs1763367854
|
|
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs)
|
rs1763367673
|
|
NM_022455.5(NSD1):c.3422del (p.Met1141fs)
|
rs1554190247
|
|
NM_022455.5(NSD1):c.3425A>G (p.Asn1142Ser)
|
|
|
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu)
|
rs1180409864
|
|
NM_022455.5(NSD1):c.3440A>G (p.Glu1147Gly)
|
|
|
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.3536del (p.Glu1179fs)
|
rs1562213381
|
|
NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)
|
|
|
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer)
|
rs878855075
|
|
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.3577A>G (p.Ser1193Gly)
|
|
|
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)
|
|
|
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs)
|
rs587784103
|
|
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs)
|
rs797045814
|
|
NM_022455.5(NSD1):c.3598C>T (p.Arg1200Trp)
|
|
|
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met)
|
rs1425698482
|
|
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr)
|
rs372004424
|
|
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.3686C>G (p.Ser1229Ter)
|
rs1763389239
|
|
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.3774delinsCAGCTCACC (p.Gln1259fs)
|
|
|
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs)
|
rs1763397145
|
|
NM_022455.5(NSD1):c.3796+1_3796+6del
|
|
|
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn)
|
|
|
NM_022455.5(NSD1):c.3815A>T (p.Lys1272Ile)
|
|
|
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.3904C>T (p.Gln1302Ter)
|
|
|
NM_022455.5(NSD1):c.3921+18A>G
|
|
|
NM_022455.5(NSD1):c.3922-1G>C
|
rs1581407682
|
|
NM_022455.5(NSD1):c.3922-2_3925delinsG
|
rs1554195815
|
|
NM_022455.5(NSD1):c.3922-9T>A
|
|
|
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs)
|
rs797045815
|
|
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)
|
|
|
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.4014del (p.Glu1340fs)
|
|
|
NM_022455.5(NSD1):c.4020del (p.Glu1341fs)
|
rs797045816
|
|
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs)
|
rs1765615038
|
|
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter)
|
rs587784109
|
|
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.4139_4140dup (p.Val1381fs)
|
|
|
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
|
|
|
NM_022455.5(NSD1):c.4192+2T>G
|
rs587784111
|
|
NM_022455.5(NSD1):c.4193-17A>G
|
|
|
NM_022455.5(NSD1):c.4193-1G>A
|
rs1581411423
|
|
NM_022455.5(NSD1):c.4193-8C>T
|
|
|
NM_022455.5(NSD1):c.4196del (p.Asn1399fs)
|
|
|
NM_022455.5(NSD1):c.4205G>A (p.Ser1402Asn)
|
|
|
NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
|
rs1765712615
|
|
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs)
|
rs794727930
|
|
NM_022455.5(NSD1):c.4220_4221del (p.Lys1407fs)
|
rs2149889364
|
|
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.4282dup (p.Asp1428fs)
|
rs797045817
|
|
NM_022455.5(NSD1):c.4301A>G (p.Lys1434Arg)
|
|
|
NM_022455.5(NSD1):c.4301del (p.Lys1434fs)
|
rs587784112
|
|
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs)
|
rs587784112
|
|
NM_022455.5(NSD1):c.4302+1G>A
|
rs1562246533
|
|
NM_022455.5(NSD1):c.4302+3A>T
|
|
|
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.4361C>G (p.Ser1454Ter)
|
rs2149894799
|
|
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu)
|
rs587784113
|
|
NM_022455.5(NSD1):c.4365del (p.Asp1456fs)
|
|
|
NM_022455.5(NSD1):c.4376del (p.Gly1459fs)
|
rs587784114
|
|
NM_022455.5(NSD1):c.4378+15_4378+16del
|
rs2149894868
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
NM_022455.5(NSD1):c.4378+1G>T
|
rs587784115
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022455.5(NSD1):c.4378+7A>G
|
rs587784116
|
|
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.4444C>T (p.Gln1482Ter)
|
rs587784118
|
|
NM_022455.5(NSD1):c.4458G>A (p.Val1486=)
|
|
|
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
|
|
|
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=)
|
rs150920473
|
|
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs)
|
rs797045819
|
|
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter)
|
rs587784119
|
|
NM_022455.5(NSD1):c.4498-10del
|
rs200890017
|
|
NM_022455.5(NSD1):c.4498-3A>G
|
rs587784120
|
|
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.4529del (p.Ser1510fs)
|
rs587784121
|
|
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs)
|
rs1581433729
|
|
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.4642-2A>G
|
|
|
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.4681C>T (p.Gln1561Ter)
|
rs587784122
|
|
NM_022455.5(NSD1):c.4702del (p.Leu1568fs)
|
rs1755987983
|
|
NM_022455.5(NSD1):c.4705del (p.Glu1569fs)
|
rs587784123
|
|
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.4731_4732del (p.Gly1579fs)
|
rs587784124
|
|
NM_022455.5(NSD1):c.4732A>G (p.Arg1578Gly)
|
rs2149904592
|
|
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs)
|
rs797045820
|
|
NM_022455.5(NSD1):c.4745del (p.Ile1582fs)
|
rs587784125
|
|
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter)
|
rs587784126
|
|
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>C
|
|
|
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.4771C>T (p.His1591Tyr)
|
rs1554199368
|
|
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
|
|
|
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.4823dup (p.Pro1609fs)
|
|
|
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg)
|
rs2149912373
|
|
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn)
|
rs1756521704
|
|
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser)
|
rs398124378
|
|
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
|
rs1756522180
|
|
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser)
|
rs587784128
|
|
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly)
|
rs587784128
|
|
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.4882_4883insAA (p.Met1628fs)
|
rs797045821
|
|
NM_022455.5(NSD1):c.4883del (p.Met1628fs)
|
rs2149912535
|
|
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)
|
rs587784129
|
|
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr)
|
rs1064796568
|
|
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
|
|
|
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
|
|
|
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)
|
|
|
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs)
|
rs1562265336
|
|
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
|
|
|
NM_022455.5(NSD1):c.4959A>G (p.Ala1653=)
|
|
|
NM_022455.5(NSD1):c.4961C>G (p.Ser1654Cys)
|
|
|
NM_022455.5(NSD1):c.4966+1G>A
|
rs587784131
|
|
NM_022455.5(NSD1):c.4966+7A>G
|
rs2149912804
|
|
NM_022455.5(NSD1):c.4966+96dup
|
rs373383515
|
|
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys)
|
rs587784132
|
|
NM_022455.5(NSD1):c.4967-12T>A
|
|
|
NM_022455.5(NSD1):c.4967-2A>T
|
rs587784133
|
|
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln)
|
rs1756860552
|
|
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
|
|
|
NM_022455.5(NSD1):c.4977dup (p.Arg1660fs)
|
rs1562269320
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
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.5021G>A (p.Cys1674Tyr)
|
rs587784135
|
|
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala)
|
|
|
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser)
|
rs1756866850
|
|
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.5141C>G (p.Ser1714Ter)
|
rs587784138
|
|
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>A (p.Gly1717Ser)
|
|
|
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>A (p.Cys1733Tyr)
|
rs587784140
|
|
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.5268C>A (p.Tyr1756Ter)
|
|
|
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.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
NM_022455.5(NSD1):c.5281T>C (p.Trp1761Arg)
|
rs1060501489
|
|
NM_022455.5(NSD1):c.5289A>T (p.Lys1763Asn)
|
rs1135401952
|
|
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>A
|
rs587784141
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
NM_022455.5(NSD1):c.5304-1G>C
|
rs863224905
|
|
NM_022455.5(NSD1):c.5304-2A>G
|
|
|
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter)
|
rs587784142
|
|
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.5359A>G (p.Met1787Val)
|
|
|
NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)
|
|
|
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu)
|
rs587784143
|
|
NM_022455.5(NSD1):c.5382C>T (p.Phe1794=)
|
rs878855076
|
|
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro)
|
rs587784144
|
|
NM_022455.5(NSD1):c.5390_5397dup (p.Gly1800fs)
|
|
|
NM_022455.5(NSD1):c.5392_5398del (p.Phe1798fs)
|
rs587784145
|
|
NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg)
|
rs2149934419
|
|
NM_022455.5(NSD1):c.5407_5410dup (p.Tyr1804Ter)
|
rs797045823
|
|
NM_022455.5(NSD1):c.5408A>G (p.Asp1803Gly)
|
rs2149934442
|
|
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro)
|
rs587784146
|
|
NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter)
|
rs587784147
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln)
|
rs587784149
|
|
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.5471A>G (p.Asp1824Gly)
|
rs587784150
|
|
NM_022455.5(NSD1):c.5474dup (p.Met1826fs)
|
rs1757806263
|
|
NM_022455.5(NSD1):c.549C>T (p.Ile183=)
|
rs758535770
|
|
NM_022455.5(NSD1):c.5502T>C (p.Tyr1834=)
|
|
|
NM_022455.5(NSD1):c.5503A>G (p.Lys1835Glu)
|
|
|
NM_022455.5(NSD1):c.5509+1G>A
|
rs1757808917
|
|
NM_022455.5(NSD1):c.5509+2T>G
|
rs1581497997
|
|
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)
|
|
|
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val)
|
rs2127241862
|
|
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter)
|
rs587784151
|
|
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.5616T>A (p.His1872Gln)
|
|
|
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.56C>T (p.Pro19Leu)
|
rs1756207246
|
|
NM_022455.5(NSD1):c.5710C>A (p.Pro1904Thr)
|
|
|
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
|
|
|
NM_022455.5(NSD1):c.5712del (p.Cys1905fs)
|
rs587784153
|
|
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.5724del (p.Ser1909fs)
|
rs1562292879
|
|
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer)
|
rs2127257129
|
|
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met)
|
rs1562292890
|
|
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)
|
rs2127257170
|
|
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)
|
|
|
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)
|
rs587784155
|
|
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro)
|
rs587784155
|
|
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.5758T>A (p.Cys1920Ser)
|
rs1554204122
|
|
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg)
|
rs1554204122
|
|
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.5779G>C (p.Ala1927Pro)
|
rs1554204128
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His)
|
rs1391504793
|
|
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs)
|
rs797045824
|
|
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser)
|
rs587784156
|
|
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys)
|
rs1758806559
|
|
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter)
|
rs587784157
|
|
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter)
|
rs587784158
|
|
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro)
|
rs587784159
|
|
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)
|
rs1581527842
|
|
NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs)
|
rs2127257484
|
|
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.5858G>T (p.Gly1953Val)
|
|
|
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys)
|
rs587784160
|
|
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.5893-2A>G
|
rs587784163
|
|
NM_022455.5(NSD1):c.58G>T (p.Val20Leu)
|
rs377302741
|
|
NM_022455.5(NSD1):c.5903del (p.Val1968fs)
|
rs587784164
|
|
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
|
|
|
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs)
|
rs587784165
|
|
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val)
|
rs587784166
|
|
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys)
|
rs587784167
|
|
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)
|
rs587784167
|
|
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter)
|
rs587784168
|
|
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.5965C>T (p.Gln1989Ter)
|
rs587784170
|
|
NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)
|
|
|
NM_022455.5(NSD1):c.5975A>G (p.Asp1992Gly)
|
|
|
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=)
|
|
|
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His)
|
rs587784171
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
NM_022455.5(NSD1):c.5994del (p.Met1998fs)
|
rs878855077
|
|
NM_022455.5(NSD1):c.5997_5998insT (p.Thr2000fs)
|
rs1562295135
|
|
NM_022455.5(NSD1):c.6009+3A>C
|
rs2127261070
|
|
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)
|
rs587784174
|
|
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe)
|
rs1057516048
|
|
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.6026C>T (p.Ala2009Val)
|
rs1581535417
|
|
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
|
|
|
NM_022455.5(NSD1):c.6030del (p.Gly2013fs)
|
|
|
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.6059A>G (p.Asn2020Ser)
|
rs587784178
|
|
NM_022455.5(NSD1):c.6063T>A (p.His2021Gln)
|
|
|
NM_022455.5(NSD1):c.6068_6151+174del
|
rs2127262979
|
|
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter)
|
rs587784179
|
|
NM_022455.5(NSD1):c.6075C>T (p.Pro2025=)
|
|
|
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser)
|
rs587784180
|
|
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile)
|
rs587784181
|
|
NM_022455.5(NSD1):c.6087A>T (p.Thr2029=)
|
|
|
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)
|
rs1581535570
|
|
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs)
|
rs797045826
|
|
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly)
|
rs1554204958
|
|
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs)
|
rs797045827
|
|
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.6151+1G>A
|
rs1562296511
|
|
NM_022455.5(NSD1):c.6152-14G>A
|
rs587784182
|
|
NM_022455.5(NSD1):c.6152-5T>G
|
rs755758018
|
|
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter)
|
rs587784183
|
|
NM_022455.5(NSD1):c.6165del (p.Phe2056fs)
|
rs587784184
|
|
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)
|
rs398124380
|
|
NM_022455.5(NSD1):c.6176A>G (p.Asn2059Ser)
|
|
|
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)
|
|
|
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>C (p.Cys2070Arg)
|
rs1759551453
|
|
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)
|
rs1759551453
|
|
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs)
|
rs797045828
|
|
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)
|
rs1581548112
|
|
NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)
|
|
|
NM_022455.5(NSD1):c.6258+1G>A
|
rs587784185
|
|
NM_022455.5(NSD1):c.6258+1G>T
|
rs587784185
|
|
NM_022455.5(NSD1):c.6258G>T (p.Lys2086Asn)
|
rs1581548127
|
|
NM_022455.5(NSD1):c.6259-4G>T
|
rs764710462
|
|
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs)
|
rs797045829
|
|
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs)
|
rs2127276046
|
|
NM_022455.5(NSD1):c.6291del (p.Lys2098fs)
|
rs587784186
|
|
NM_022455.5(NSD1):c.6294del (p.Lys2098fs)
|
rs2127276076
|
|
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter)
|
rs587784187
|
|
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs)
|
rs797045830
|
|
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)
|
rs587784188
|
|
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs)
|
rs587784189
|
|
NM_022455.5(NSD1):c.6317del (p.Lys2106fs)
|
rs1562305497
|
|
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter)
|
rs1554206783
|
|
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs)
|
rs797045831
|
|
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.6358G>T (p.Glu2120Ter)
|
rs1581558015
|
|
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)
|
rs1562305653
|
|
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)
|
rs587784192
|
|
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly)
|
rs1562305665
|
|
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val)
|
rs587784193
|
|
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.6418A>G (p.Lys2140Glu)
|
rs587784196
|
|
NM_022455.5(NSD1):c.641C>T (p.Thr214Ile)
|
rs1208967470
|
|
NM_022455.5(NSD1):c.6421del (p.Val2141fs)
|
rs587784197
|
|
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.6429C>G (p.His2143Gln)
|
rs121908068
|
|
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.6450dup (p.Lys2151fs)
|
rs864309639
|
|
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.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs)
|
rs2127276655
|
|
NM_022455.5(NSD1):c.6459_6463+5del
|
rs797045832
|
|
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.6472G>T (p.Glu2158Ter)
|
rs587784201
|
|
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.6476G>A (p.Cys2159Tyr)
|
rs587784202
|
|
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro)
|
rs587784204
|
|
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln)
|
rs2127279165
|
|
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.6521_6523del (p.Phe2174del)
|
rs587784206
|
|
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.6537dup (p.Ser2180fs)
|
rs879253860
|
|
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs)
|
rs587784207
|
|
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr)
|
|
|
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer)
|
rs797045833
|
|
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
|
rs1760062897
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
NM_022455.5(NSD1):c.6548G>C (p.Cys2183Ser)
|
rs121908069
|
|
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)
|
rs1581563059
|
|
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.6566_6567dup (p.Met2190fs)
|
|
|
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del)
|
rs1756266305
|
|
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser)
|
rs587784210
|
|
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.6613C>T (p.His2205Tyr)
|
rs1554207316
|
|
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.6630_6644del (p.Asn2211_Pro2215del)
|
rs587784211
|
|
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser)
|
rs2127279586
|
|
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
|
|
|
NM_022455.5(NSD1):c.6636T>C (p.Pro2212=)
|
|
|
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val)
|
rs587784212
|
|
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys)
|
rs587784213
|
|
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu)
|
rs1760068807
|
|
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)
|
rs1760069281
|
|
NM_022455.5(NSD1):c.6654C>G (p.Ile2218Met)
|
|
|
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His)
|
rs587784214
|
|
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.6733G>A (p.Ala2245Thr)
|
|
|
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=)
|
rs587784215
|
|
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.6871_6873delinsTAT (p.Gln2291Tyr)
|
rs2127280285
|
|
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.7022C>T (p.Ser2341Phe)
|
rs1319472971
|
|
NM_022455.5(NSD1):c.7024T>C (p.Ser2342Pro)
|
rs752927515
|
|
NM_022455.5(NSD1):c.7041C>G (p.Ser2347=)
|
|
|
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser)
|
|
|
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu)
|
rs1756273326
|
|
NM_022455.5(NSD1):c.7122A>T (p.Ser2374=)
|
|
|
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)
|
rs765876148
|
|
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala)
|
rs1416255762
|
|
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.7227dup (p.Pro2410fs)
|
rs2127282070
|
|
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)
|
|
|
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.7352G>C (p.Arg2451Thr)
|
rs200115665
|
|
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.7405del (p.Ala2469fs)
|
rs2127282737
|
|
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.7510G>A (p.Val2504Ile)
|
rs1005975383
|
|
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)
|
|
|
NM_022455.5(NSD1):c.7551del (p.Ala2519fs)
|
|
|
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.7648G>A (p.Glu2550Lys)
|
rs1180593710
|
|
NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr)
|
rs1450153384
|
|
NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg)
|
|
|
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
|
|
|
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter)
|
rs749416834
|
|
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser)
|
rs1756280868
|
|
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.7783A>T (p.Lys2595Ter)
|
rs797045834
|
|
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.7922C>T (p.Ala2641Val)
|
rs1371700950
|
|
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs)
|
rs587784219
|
|
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.7966C>T (p.Gln2656Ter)
|
rs797045058
|
|
NM_022455.5(NSD1):c.7968_7971del (p.Gln2656fs)
|
rs1562312238
|
|
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)
|
|
|
NM_022455.5(NSD1):c.7995T>C (p.Leu2665=)
|
|
|
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg)
|
rs1554208207
|
|
NM_022455.5(NSD1):c.8036del (p.Pro2679fs)
|
rs587784220
|
|
NM_022455.5(NSD1):c.8043del (p.Asn2682fs)
|
rs587784221
|
|
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.896del (p.Ser299fs)
|
rs1562099585
|
|
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.*1021GT[14]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[15]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[18]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[19]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[20]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1058G>T
|
rs886048211
|
|
NM_024426.6(WT1):c.*269G>T
|
rs886048225
|
|
NM_024426.6(WT1):c.*354G>T
|
rs886048224
|
|
NM_024426.6(WT1):c.*366C>A
|
rs886048223
|
|
NM_024426.6(WT1):c.*393G>T
|
rs886048222
|
|
NM_024426.6(WT1):c.*685G>T
|
rs886048218
|
|
NM_024426.6(WT1):c.*707C>A
|
rs886048217
|
|
NM_024426.6(WT1):c.*741G>T
|
rs886048216
|
|
NM_024426.6(WT1):c.*768A>C
|
rs886048215
|
|
NM_024426.6(WT1):c.*841C>A
|
rs886048213
|
|
NM_024426.6(WT1):c.-31G>T
|
rs886048234
|
|
NM_024426.6(WT1):c.-82A>C
|
rs886048236
|
|
NM_024426.6(WT1):c.-86T>C
|
rs886048237
|
|
NM_024426.6(WT1):c.-90T>C
|
rs886048238
|
|
NM_024426.6(WT1):c.-94G>C
|
rs886048239
|
|
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.136G>T (p.Ala46Ser)
|
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>A (p.Ala55Thr)
|
|
|
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.247G>T (p.Ala83Ser)
|
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.285C>T (p.Gly95=)
|
rs886048230
|
|
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_030665.4(RAI1):c.3407C>T (p.Thr1136Met)
|
|
|
NM_032322.4(RNF135):c.1015del (p.Val339fs)
|
rs724159978
|
|
NM_032322.4(RNF135):c.742del (p.Leu248fs)
|
rs724159977
|
|
NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter)
|
rs2116378500
|
|
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs)
|
|
|
NM_078480.3(PUF60):c.1006C>T (p.Gln336Ter)
|
|
|
NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)
|
|
|
NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs)
|
rs1554642573
|
|
NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs)
|
rs2130223089
|
|
NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)
|
|
|
NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)
|
|
|
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu)
|
rs1816390931
|
|
NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter)
|
rs1554642022
|
|
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter)
|
rs1563819620
|
|
NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)
|
|
|
NM_078480.3(PUF60):c.1381-2A>G
|
rs1057518681
|
|
NM_078480.3(PUF60):c.1381-3_1381-2del
|
|
|
NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)
|
|
|
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)
|
rs1563818514
|
|
NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg)
|
rs2130205866
|
|
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)
|
rs1816336903
|
|
NM_078480.3(PUF60):c.1550T>G (p.Val517Gly)
|
rs2130202692
|
|
NM_078480.3(PUF60):c.1558del (p.Ser520fs)
|
rs1586555859
|
|
NM_078480.3(PUF60):c.1569dup (p.Glu524Ter)
|
rs1816322210
|
|
NM_078480.3(PUF60):c.1625T>A (p.Val542Glu)
|
|
|
NM_078480.3(PUF60):c.207+1G>A
|
|
|
NM_078480.3(PUF60):c.208-1G>A
|
rs1229324113
|
|
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer)
|
rs1586590135
|
|
NM_078480.3(PUF60):c.24+1G>C
|
rs1064795388
|
|
NM_078480.3(PUF60):c.24+1G>T
|
rs1064795388
|
|
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter)
|
rs1464053660
|
|
NM_078480.3(PUF60):c.274C>T (p.Gln92Ter)
|
rs1210239952
|
|
NM_078480.3(PUF60):c.284_285del (p.Leu95fs)
|
rs1817027997
|
|
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp)
|
rs2130258570
|
|
NM_078480.3(PUF60):c.382_383del (p.Met128fs)
|
rs2130258214
|
|
NM_078480.3(PUF60):c.389G>A (p.Arg130His)
|
rs1554643584
|
|
NM_078480.3(PUF60):c.389G>C (p.Arg130Pro)
|
rs1554643584
|
|
NM_078480.3(PUF60):c.407_410del (p.Ile136fs)
|
rs1563826453
|
|
NM_078480.3(PUF60):c.436C>T (p.Arg146Cys)
|
rs2130257405
|
|
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)
|
rs1131692232
|
|
NM_078480.3(PUF60):c.464del (p.Ile155fs)
|
rs1816624373
|
|
NM_078480.3(PUF60):c.472del (p.Ile158fs)
|
rs2130256693
|
|
NM_078480.3(PUF60):c.478_479del (p.Met160fs)
|
rs1554643473
|
|
NM_078480.3(PUF60):c.503_509del (p.Lys168fs)
|
rs1563825893
|
|
NM_078480.3(PUF60):c.505C>T (p.His169Tyr)
|
rs398123001
|
|
NM_078480.3(PUF60):c.510+1G>A
|
rs1816618311
|
|
NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)
|
|
|
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys)
|
rs1085307135
|
|
NM_078480.3(PUF60):c.603G>A (p.Lys201=)
|
rs1816591218
|
|
NM_078480.3(PUF60):c.60GGC[6] (p.Ala25dup)
|
rs540307276
|
|
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)
|
rs1816565452
|
|
NM_078480.3(PUF60):c.613C>T (p.Pro205Ser)
|
rs1439430129
|
|
NM_078480.3(PUF60):c.619_637del (p.Asn207fs)
|
rs1554643142
|
|
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter)
|
rs1816565787
|
|
NM_078480.3(PUF60):c.636_640del (p.Gln212fs)
|
|
|
NM_078480.3(PUF60):c.642del (p.Ile214_Ile215insTer)
|
|
|
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln)
|
rs1317244394
|
|
NM_078480.3(PUF60):c.672dup (p.Phe225fs)
|
rs2130247180
|
|
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser)
|
rs1816558436
|
|
NM_078480.3(PUF60):c.712_713del (p.Ser238fs)
|
rs1816555365
|
|
NM_078480.3(PUF60):c.713C>G (p.Ser238Ter)
|
rs1554643099
|
|
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs)
|
rs1816551992
|
|
NM_078480.3(PUF60):c.803_809del (p.Gly268fs)
|
rs2130244708
|
|
NM_078480.3(PUF60):c.822C>G (p.Tyr274Ter)
|
|
|
NM_078480.3(PUF60):c.841C>T (p.Gln281Ter)
|
|
|
NM_078480.3(PUF60):c.848_849del (p.Ala283fs)
|
rs2130242336
|
|
NM_078480.3(PUF60):c.852_853del (p.Ser285fs)
|
|
|
NM_078480.3(PUF60):c.860dup (p.Met287fs)
|
rs2130242101
|
|
NM_078480.3(PUF60):c.896T>A (p.Val299Glu)
|
|
|
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter)
|
rs1563823411
|
|
NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)
|
|
|
NM_078480.3(PUF60):c.931del (p.Thr311fs)
|
rs1586565506
|
|
NM_133330.3(NSD2):c.1676_1679del
|
rs1553873247
|
|
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])
|
rs750165040
|
|
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg)
|
rs752337482
|
|
NM_144997.7(FLCN):c.1062+2T>G
|
rs886039370
|
|
NM_144997.7(FLCN):c.10A>G (p.Ile4Val)
|
rs1555611575
|
|
NM_144997.7(FLCN):c.1283C>A (p.Pro428His)
|
rs199889477
|
|
NM_144997.7(FLCN):c.1285C>G (p.His429Asp)
|
rs375082054
|
|
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)
|
rs375082054
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1300+4C>T
|
rs1207963576
|
|
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu)
|
rs772207015
|
|
NM_144997.7(FLCN):c.1337G>A (p.Arg446His)
|
rs750104212
|
|
NM_144997.7(FLCN):c.134C>T (p.Ala45Val)
|
rs556510460
|
|
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser)
|
rs2046880742
|
|
NM_144997.7(FLCN):c.1353T>C (p.Pro451=)
|
rs1597580172
|
|
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)
|
rs1131690841
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe)
|
rs750535468
|
|
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe)
|
rs1360467783
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)
|
rs2046824022
|
|
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
|
rs1131690833
|
|
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)
|
rs201056799
|
|
NM_144997.7(FLCN):c.1715C>A (p.Pro572His)
|
rs1567804824
|
|
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln)
|
rs1048214486
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)
|
rs587778365
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln)
|
rs1567822604
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
NM_144997.7(FLCN):c.49dup (p.Arg17fs)
|
rs758385503
|
|
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe)
|
rs1229735191
|
|
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)
|
rs878855219
|
|
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1])
|
rs1209487287
|
|
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu)
|
rs1026067642
|
|
NM_144997.7(FLCN):c.756G>A (p.Ala252=)
|
rs746664975
|
|
NM_144997.7(FLCN):c.75G>A (p.Leu25=)
|
rs200350612
|
|
NM_144997.7(FLCN):c.798C>T (p.Gly266=)
|
rs2047092959
|
|
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser)
|
rs779449668
|
|
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg)
|
rs748031634
|
|
NM_144997.7(FLCN):c.871+13T>C
|
rs770537219
|
|
NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)
|
|
|
NM_152989.5(SOX5):c.-1-87764T>C
|
rs1949815031
|
|
NM_152989.5(SOX5):c.-175-344A>G
|
rs2136240323
|
|
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro)
|
rs57877560
|
|
NM_172349.5(NSD1):c.-151+112_-151+113del
|
rs1581082075
|
|
NR_039729.1(MIR2392):n.-10132_-1575del
|
|
|
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del
|
|
|
Single allele
|
|
|
arr[hg19]17p11.2(16,757,111-20,219,651)x3
|
|
|