ClinVar Miner

List of variants studied for autosomal anomaly

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5871
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HGVS dbSNP gnomAD frequency
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

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