NM_015295.3(SMCHD1):c.4967-15G>T
|
rs300291
|
0.98262
|
NM_015295.3(SMCHD1):c.4347-295G>A
|
rs300285
|
0.96477
|
NM_015295.3(SMCHD1):c.4281+84A>G
|
rs300293
|
0.96457
|
NM_015295.3(SMCHD1):c.1342+133A>G
|
rs481575
|
0.86858
|
NM_015295.3(SMCHD1):c.1040+276G>A
|
rs497869
|
0.83668
|
NM_015295.3(SMCHD1):c.873+53G>A
|
rs637651
|
0.81664
|
NM_015295.3(SMCHD1):c.1342+86T>C
|
rs626994
|
0.81647
|
NM_015295.3(SMCHD1):c.873+196T>C
|
rs1270870
|
0.80234
|
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile)
|
rs2276092
|
0.71166
|
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=)
|
rs635132
|
0.60549
|
NM_015295.3(SMCHD1):c.5367-291_5367-290insCAGCTTT
|
rs56754782
|
0.55323
|
NM_015295.3(SMCHD1):c.4165+286A>G
|
rs300294
|
0.44760
|
NM_015295.3(SMCHD1):c.1647+199A>G
|
rs501573
|
0.41986
|
NM_015295.3(SMCHD1):c.2064-286G>A
|
rs2509459
|
0.39958
|
NM_015295.3(SMCHD1):c.4629C>T (p.Gly1543=)
|
rs483547
|
0.39322
|
NM_015295.3(SMCHD1):c.1843-59T>A
|
rs8090967
|
0.38066
|
NM_015295.3(SMCHD1):c.3802-296T>C
|
rs159826
|
0.36106
|
NM_015295.3(SMCHD1):c.3425+37C>T
|
rs8094260
|
0.33927
|
NM_015295.3(SMCHD1):c.2637A>T (p.Lys879Asn)
|
rs633422
|
0.32971
|
NM_015295.3(SMCHD1):c.1843-17T>A
|
rs8090988
|
0.32584
|
NM_015295.3(SMCHD1):c.5994-224T>C
|
rs1318078
|
0.32507
|
NM_015295.3(SMCHD1):c.3277-233T>C
|
rs476476
|
0.32404
|
NM_015295.3(SMCHD1):c.3515-76G>A
|
rs521992
|
0.32284
|
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=)
|
rs12327477
|
0.28781
|
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=)
|
rs2304859
|
0.28776
|
NM_015295.3(SMCHD1):c.4166-110_4166-109insAT
|
rs71365197
|
0.28738
|
NM_015295.3(SMCHD1):c.3277-42_3277-39dup
|
rs10638660
|
0.28675
|
NM_015295.3(SMCHD1):c.2700+240G>A
|
rs11080984
|
0.28544
|
NM_015295.3(SMCHD1):c.2700+205A>G
|
rs12605423
|
0.28415
|
NM_015295.3(SMCHD1):c.5052+203A>G
|
rs8083931
|
0.28272
|
NM_015295.3(SMCHD1):c.5476+10A>G
|
rs3213926
|
0.28248
|
NM_015295.3(SMCHD1):c.5720-291C>T
|
rs2298497
|
0.28223
|
NM_015295.3(SMCHD1):c.5720-95A>G
|
rs2298498
|
0.28222
|
NM_015295.3(SMCHD1):c.3927+195A>G
|
rs4798020
|
0.24863
|
NM_015295.3(SMCHD1):c.5548-43_5548-40del
|
rs35853884
|
0.24521
|
NM_015295.3(SMCHD1):c.2701-85C>G
|
rs16943716
|
0.19685
|
NM_015295.3(SMCHD1):c.3633+231A>G
|
rs28377858
|
0.19681
|
NM_015295.3(SMCHD1):c.4435-150A>G
|
rs9954465
|
0.19678
|
NM_015295.3(SMCHD1):c.4008-110A>G
|
rs2304860
|
0.19677
|
NM_015295.3(SMCHD1):c.3277-282G>A
|
rs9964083
|
0.19660
|
NM_015295.3(SMCHD1):c.3048+225T>C
|
rs60929090
|
0.19635
|
NM_015295.3(SMCHD1):c.3927+151A>T
|
rs2304862
|
0.19630
|
NM_015295.3(SMCHD1):c.5719+307G>A
|
rs72866583
|
0.19287
|
NM_015295.3(SMCHD1):c.2338+32A>G
|
rs62084229
|
0.19102
|
NM_015295.3(SMCHD1):c.5547+145C>T
|
rs17552342
|
0.19099
|
NM_015295.3(SMCHD1):c.3277-136G>A
|
rs8092725
|
0.19095
|
NM_015295.3(SMCHD1):c.2914-96T>C
|
rs17627559
|
0.19087
|
NM_015295.3(SMCHD1):c.2913+92T>A
|
rs10502304
|
0.19079
|
NM_015295.3(SMCHD1):c.2261-207del
|
rs144450817
|
0.19063
|
NM_015295.3(SMCHD1):c.2458+269C>T
|
rs62084230
|
0.19060
|
NM_015295.3(SMCHD1):c.2261-273A>G
|
rs17551281
|
0.18969
|
NM_015295.3(SMCHD1):c.5993+160C>T
|
rs62077723
|
0.18868
|
NM_015295.3(SMCHD1):c.424+33T>C
|
rs648105
|
0.18825
|
NM_015295.3(SMCHD1):c.2458+293A>G
|
rs62084231
|
0.18793
|
NM_015295.3(SMCHD1):c.4282-246A>G
|
rs2347806
|
0.18784
|
NM_015295.3(SMCHD1):c.187-72T>C
|
rs621302
|
0.18383
|
NM_015295.3(SMCHD1):c.263-164T>G
|
rs646699
|
0.18370
|
NM_015295.3(SMCHD1):c.425-203A>G
|
rs660777
|
0.18369
|
NM_015295.3(SMCHD1):c.262+48T>C
|
rs531379
|
0.18368
|
NM_015295.3(SMCHD1):c.507+235_507+236del
|
rs113724296
|
0.18309
|
NM_015295.3(SMCHD1):c.1843-77A>G
|
rs62084217
|
0.18251
|
NM_015295.3(SMCHD1):c.638+109T>C
|
rs596500
|
0.16436
|
NM_015295.3(SMCHD1):c.2603+253A>G
|
rs12608077
|
0.12710
|
NM_015295.3(SMCHD1):c.4346+287G>A
|
rs4798021
|
0.09705
|
NM_015295.3(SMCHD1):c.3928-133A>G
|
rs2019793
|
0.09697
|
NM_015295.3(SMCHD1):c.1342+207G>T
|
rs73365816
|
0.09657
|
NM_015295.3(SMCHD1):c.2700+234C>G
|
rs11080983
|
0.07900
|
NM_015295.3(SMCHD1):c.4007+84C>T
|
rs2304861
|
0.07854
|
NM_015295.3(SMCHD1):c.4435-180C>G
|
rs11665114
|
0.07809
|
NM_015295.3(SMCHD1):c.262+25G>C
|
rs634246
|
0.07576
|
NM_015295.3(SMCHD1):c.1647+246G>T
|
rs115550964
|
0.07558
|
NM_015295.3(SMCHD1):c.1343-333G>A
|
rs75898678
|
0.07340
|
NM_015295.3(SMCHD1):c.2260+228T>C
|
rs79226463
|
0.07196
|
NM_015295.3(SMCHD1):c.3514+215G>A
|
rs11872184
|
0.06292
|
NC_000018.10:g.2655552G>A
|
rs28652584
|
0.05538
|
NM_015295.3(SMCHD1):c.4966+95T>C
|
rs8098934
|
0.05297
|
NM_015295.3(SMCHD1):c.2774-127A>G
|
rs11876511
|
0.05278
|
NM_015295.3(SMCHD1):c.3049-253A>G
|
rs80114931
|
0.05270
|
NM_015295.3(SMCHD1):c.3049-214C>A
|
rs76979575
|
0.05267
|
NM_015295.3(SMCHD1):c.2603+25T>G
|
rs73365837
|
0.05119
|
NM_015295.3(SMCHD1):c.5547+212T>C
|
rs8086632
|
0.04957
|
NM_015295.3(SMCHD1):c.507+146C>T
|
rs73936777
|
0.03954
|
NM_015295.3(SMCHD1):c.399T>C (p.Tyr133=)
|
rs7239096
|
0.03555
|
NM_015295.3(SMCHD1):c.639-86A>G
|
rs9962343
|
0.03548
|
NM_015295.3(SMCHD1):c.639-122C>T
|
rs9950464
|
0.03547
|
NM_015295.3(SMCHD1):c.2913+113C>T
|
rs9950040
|
0.03415
|
NM_015295.3(SMCHD1):c.2914-103C>A
|
rs9952719
|
0.03406
|
NM_015295.3(SMCHD1):c.3276+288A>G
|
rs78050995
|
0.03406
|
NM_015295.3(SMCHD1):c.2878A>G (p.Ile960Val)
|
rs9961682
|
0.03402
|
NM_015295.3(SMCHD1):c.3514+235G>A
|
rs9944876
|
0.03402
|
NM_015295.3(SMCHD1):c.3927+332C>T
|
rs9954526
|
0.03366
|
NM_015295.3(SMCHD1):c.425-77A>G
|
rs73936775
|
0.03261
|
NM_015295.3(SMCHD1):c.5367-85A>G
|
rs76955546
|
0.03135
|
NM_015295.3(SMCHD1):c.3612A>T (p.Ser1204=)
|
rs115632137
|
0.03072
|
NM_015295.3(SMCHD1):c.2063+24G>A
|
rs75714825
|
0.02813
|
NM_015295.3(SMCHD1):c.3277-231A>G
|
rs117286838
|
0.02530
|
NM_015295.3(SMCHD1):c.2701-217C>G
|
rs74885792
|
0.02487
|
NM_015295.3(SMCHD1):c.1843-18T>A
|
rs116599328
|
0.02018
|
NM_015295.3(SMCHD1):c.1343-242G>A
|
rs117590407
|
0.01901
|
NM_015295.3(SMCHD1):c.3802-16T>G
|
rs79829175
|
0.01859
|
NM_015295.3(SMCHD1):c.3049-45T>G
|
rs116202511
|
0.01842
|
NM_015295.3(SMCHD1):c.4346+163G>A
|
rs114813343
|
0.01794
|
NM_015295.3(SMCHD1):c.754-53G>T
|
rs141243907
|
0.01793
|
NM_015295.3(SMCHD1):c.3276+321G>A
|
rs117584885
|
0.01792
|
NM_015295.3(SMCHD1):c.754-52C>T
|
rs146251858
|
0.01792
|
NM_015295.3(SMCHD1):c.2774-296G>A
|
rs116916319
|
0.01791
|
NM_015295.3(SMCHD1):c.5993+185G>A
|
rs147416786
|
0.01786
|
NM_015295.3(SMCHD1):c.2063+153A>C
|
rs117972250
|
0.01785
|
NM_015295.3(SMCHD1):c.638+224T>C
|
rs78468327
|
0.01634
|
NM_015295.3(SMCHD1):c.1041-199C>T
|
rs80190219
|
0.01631
|
NM_015295.3(SMCHD1):c.186+243C>G
|
rs111527232
|
0.01460
|
NM_015295.3(SMCHD1):c.3514+61A>G
|
rs113825505
|
0.01300
|
NM_015295.3(SMCHD1):c.1647+252T>G
|
rs184722548
|
0.01262
|
NM_015295.3(SMCHD1):c.3801+123T>C
|
rs118141308
|
0.01249
|
NM_015295.3(SMCHD1):c.4566+217C>G
|
rs75261709
|
0.01132
|
NM_015295.3(SMCHD1):c.3277-163G>A
|
rs115449888
|
0.01074
|
NM_015295.3(SMCHD1):c.5176-40_5176-39del
|
rs60477392
|
0.00959
|
NM_015295.3(SMCHD1):c.873+7T>C
|
rs114242799
|
0.00957
|
NM_015295.3(SMCHD1):c.4166-214A>G
|
rs79451143
|
0.00921
|
NM_015295.3(SMCHD1):c.2774-211G>A
|
rs77568208
|
0.00920
|
NM_015295.3(SMCHD1):c.1956+79G>A
|
rs115927532
|
0.00893
|
NM_015295.3(SMCHD1):c.5548-110T>C
|
rs75038094
|
0.00873
|
NM_015295.3(SMCHD1):c.4165+109_4165+110del
|
rs534997178
|
0.00869
|
NM_015295.3(SMCHD1):c.187-260C>T
|
rs114921993
|
0.00833
|
NM_015295.3(SMCHD1):c.3425+94C>T
|
rs116544024
|
0.00811
|
NM_015295.3(SMCHD1):c.4566+152C>A
|
rs142088730
|
0.00797
|
NM_015295.3(SMCHD1):c.4566+116A>G
|
rs76381514
|
0.00667
|
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=)
|
rs78073508
|
0.00657
|
NM_015295.3(SMCHD1):c.2604-83A>G
|
rs140531442
|
0.00613
|
NM_015295.3(SMCHD1):c.1132-175T>C
|
rs73365813
|
0.00612
|
NM_015295.3(SMCHD1):c.639-138A>G
|
rs148277348
|
0.00521
|
NM_015295.3(SMCHD1):c.2459-37G>A
|
rs113998277
|
0.00520
|
NM_015295.3(SMCHD1):c.3426-112T>C
|
rs148600037
|
0.00483
|
NM_015295.3(SMCHD1):c.2147-7C>T
|
rs113524119
|
0.00473
|
NM_015295.3(SMCHD1):c.3801+209A>C
|
rs116108559
|
0.00460
|
NM_015295.3(SMCHD1):c.*7A>G
|
rs140650738
|
0.00458
|
NM_015295.3(SMCHD1):c.507+137A>G
|
rs138332007
|
0.00450
|
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)
|
rs117771893
|
0.00426
|
NM_015295.3(SMCHD1):c.5993+135G>C
|
rs144395718
|
0.00426
|
NM_015295.3(SMCHD1):c.1648-31A>G
|
rs76103139
|
0.00423
|
NM_015295.3(SMCHD1):c.2774-108A>G
|
rs565642461
|
0.00415
|
NM_015295.3(SMCHD1):c.2261-96C>T
|
rs192281274
|
0.00375
|
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile)
|
rs147034750
|
0.00303
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
NM_015295.3(SMCHD1):c.1956+7C>T
|
rs145755468
|
0.00201
|
NM_015295.3(SMCHD1):c.4104C>T (p.Pro1368=)
|
rs117794949
|
0.00181
|
NM_015295.3(SMCHD1):c.2913+6C>G
|
rs186678728
|
0.00153
|
NM_015295.3(SMCHD1):c.5878+12C>G
|
rs148698681
|
0.00138
|
NM_015295.3(SMCHD1):c.985C>A (p.Pro329Thr)
|
rs145233420
|
0.00119
|
NM_015295.3(SMCHD1):c.5878+8T>G
|
rs144115061
|
0.00097
|
NM_015295.3(SMCHD1):c.150C>G (p.Arg50=)
|
rs139872818
|
0.00086
|
NM_015295.3(SMCHD1):c.2063+20G>T
|
rs368528253
|
0.00083
|
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)
|
rs7229488
|
0.00063
|
NM_015295.3(SMCHD1):c.3633+7C>T
|
rs200391083
|
0.00060
|
NM_015295.3(SMCHD1):c.1132-14C>T
|
rs184510956
|
0.00053
|
NM_015295.3(SMCHD1):c.3636A>G (p.Glu1212=)
|
rs372008124
|
0.00053
|
NM_015295.3(SMCHD1):c.4521A>G (p.Ser1507=)
|
rs201821082
|
0.00053
|
NM_015295.3(SMCHD1):c.789C>T (p.His263=)
|
rs374899324
|
0.00046
|
NM_015295.3(SMCHD1):c.1843-16A>T
|
rs569911568
|
0.00042
|
NM_015295.3(SMCHD1):c.1957-3C>T
|
rs201069969
|
0.00040
|
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=)
|
rs372945746
|
0.00040
|
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg)
|
rs201071071
|
0.00039
|
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
NM_015295.3(SMCHD1):c.5006G>A (p.Arg1669Gln)
|
rs368367743
|
0.00034
|
NM_015295.3(SMCHD1):c.2152T>C (p.Leu718=)
|
rs112500113
|
0.00033
|
NM_015295.3(SMCHD1):c.425-12G>C
|
rs376303409
|
0.00031
|
NM_015295.3(SMCHD1):c.4255A>G (p.Thr1419Ala)
|
rs191487554
|
0.00029
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
NM_015295.3(SMCHD1):c.3841A>G (p.Ile1281Val)
|
rs201059575
|
0.00026
|
NM_015295.3(SMCHD1):c.5787A>G (p.Gln1929=)
|
rs369084979
|
0.00026
|
NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile)
|
rs553452960
|
0.00025
|
NM_015295.3(SMCHD1):c.4119T>G (p.Val1373=)
|
rs780548113
|
0.00024
|
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=)
|
rs72862973
|
0.00021
|
NM_015295.3(SMCHD1):c.4696G>A (p.Val1566Met)
|
rs569043880
|
0.00021
|
NM_015295.3(SMCHD1):c.5878+3A>G
|
rs375668696
|
0.00021
|
NM_015295.3(SMCHD1):c.3346A>G (p.Thr1116Ala)
|
rs377085725
|
0.00020
|
NM_015295.3(SMCHD1):c.2064-9T>C
|
rs376058538
|
0.00019
|
NM_015295.3(SMCHD1):c.2774-18T>C
|
rs373552130
|
0.00019
|
NM_015295.3(SMCHD1):c.5155A>G (p.Ser1719Gly)
|
rs201221497
|
0.00019
|
NM_015295.3(SMCHD1):c.2603+16A>G
|
rs766800112
|
0.00018
|
NM_015295.3(SMCHD1):c.3872A>G (p.Asn1291Ser)
|
rs201497685
|
0.00017
|
NM_015295.3(SMCHD1):c.4105G>A (p.Val1369Ile)
|
rs375198512
|
0.00015
|
NM_015295.3(SMCHD1):c.263-10_263-9del
|
rs779834935
|
0.00014
|
NM_015295.3(SMCHD1):c.3514+4A>G
|
rs754405751
|
0.00014
|
NM_015295.3(SMCHD1):c.1086A>G (p.Ile362Met)
|
rs201408220
|
0.00013
|
NM_015295.3(SMCHD1):c.1843-19T>A
|
rs756749163
|
0.00013
|
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=)
|
rs766575963
|
0.00012
|
NM_015295.3(SMCHD1):c.4783C>G (p.Pro1595Ala)
|
rs369179110
|
0.00012
|
NM_015295.3(SMCHD1):c.1297T>C (p.Leu433=)
|
rs375376651
|
0.00011
|
NM_015295.3(SMCHD1):c.3639C>A (p.Asn1213Lys)
|
rs780740818
|
0.00011
|
NM_015295.3(SMCHD1):c.681T>C (p.Ser227=)
|
rs368569998
|
0.00011
|
NM_015295.3(SMCHD1):c.1290T>C (p.His430=)
|
rs376328601
|
0.00010
|
NM_015295.3(SMCHD1):c.1947A>G (p.Gln649=)
|
rs201805227
|
0.00010
|
NM_015295.3(SMCHD1):c.2635A>G (p.Lys879Glu)
|
rs671942
|
0.00010
|
NM_015295.3(SMCHD1):c.2657G>A (p.Arg886Gln)
|
rs372815104
|
0.00010
|
NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu)
|
rs201466122
|
0.00010
|
NM_015295.3(SMCHD1):c.2925T>A (p.Ala975=)
|
rs763236583
|
0.00010
|
NM_015295.3(SMCHD1):c.3138A>T (p.Gly1046=)
|
rs138078408
|
0.00010
|
NM_015295.3(SMCHD1):c.4166-7A>G
|
rs377273773
|
0.00010
|
NM_015295.3(SMCHD1):c.4912G>A (p.Val1638Ile)
|
rs370473143
|
0.00010
|
NM_015295.3(SMCHD1):c.522A>G (p.Thr174=)
|
rs370798030
|
0.00010
|
NM_015295.3(SMCHD1):c.1731A>G (p.Thr577=)
|
rs369778016
|
0.00009
|
NM_015295.3(SMCHD1):c.2458+18A>G
|
rs549402675
|
0.00009
|
NM_015295.3(SMCHD1):c.5411T>C (p.Ile1804Thr)
|
rs370249291
|
0.00009
|
NM_015295.3(SMCHD1):c.54G>C (p.Glu18Asp)
|
rs779165187
|
0.00009
|
NM_015295.3(SMCHD1):c.2147-5C>T
|
rs184984483
|
0.00008
|
NM_015295.3(SMCHD1):c.2606G>T (p.Gly869Val)
|
rs548397345
|
0.00008
|
NM_015295.3(SMCHD1):c.2612C>A (p.Ser871Tyr)
|
rs372975122
|
0.00008
|
NM_015295.3(SMCHD1):c.4135G>A (p.Ala1379Thr)
|
rs1039632433
|
0.00008
|
NM_015295.3(SMCHD1):c.1031G>A (p.Arg344Gln)
|
rs370983669
|
0.00007
|
NM_015295.3(SMCHD1):c.244A>G (p.Ile82Val)
|
rs181045631
|
0.00007
|
NM_015295.3(SMCHD1):c.4109G>A (p.Arg1370His)
|
rs185137363
|
0.00007
|
NM_015295.3(SMCHD1):c.5719+10A>G
|
rs372447642
|
0.00007
|
NM_015295.3(SMCHD1):c.2353T>C (p.Leu785=)
|
rs371760133
|
0.00006
|
NM_015295.3(SMCHD1):c.2604-12T>G
|
rs764048268
|
0.00006
|
NM_015295.3(SMCHD1):c.2700+14A>G
|
rs761914243
|
0.00006
|
NM_015295.3(SMCHD1):c.3047C>T (p.Pro1016Leu)
|
rs528154864
|
0.00006
|
NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser)
|
rs375795924
|
0.00006
|
NM_015295.3(SMCHD1):c.3596T>C (p.Val1199Ala)
|
rs376586199
|
0.00006
|
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)
|
rs942559171
|
0.00006
|
NM_015295.3(SMCHD1):c.4161C>T (p.Phe1387=)
|
rs553970445
|
0.00006
|
NM_015295.3(SMCHD1):c.4320C>T (p.Asp1440=)
|
rs374154803
|
0.00006
|
NM_015295.3(SMCHD1):c.4434+18A>G
|
rs374523905
|
0.00006
|
NM_015295.3(SMCHD1):c.2261-18C>G
|
rs759283996
|
0.00005
|
NM_015295.3(SMCHD1):c.2604-19A>G
|
rs150461391
|
0.00005
|
NM_015295.3(SMCHD1):c.3414G>A (p.Ala1138=)
|
rs778892054
|
0.00005
|
NM_015295.3(SMCHD1):c.3769C>T (p.Leu1257Phe)
|
rs766226383
|
0.00005
|
NM_015295.3(SMCHD1):c.3802-12T>C
|
rs199707863
|
0.00005
|
NM_015295.3(SMCHD1):c.4369G>C (p.Val1457Leu)
|
rs371144443
|
0.00005
|
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=)
|
rs763699437
|
0.00005
|
NM_015295.3(SMCHD1):c.925C>G (p.Leu309Val)
|
rs569470518
|
0.00005
|
NM_015295.3(SMCHD1):c.933A>G (p.Ile311Met)
|
rs778214060
|
0.00005
|
NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr)
|
rs776944618
|
0.00004
|
NM_015295.3(SMCHD1):c.1041-14C>A
|
rs989924712
|
0.00004
|
NM_015295.3(SMCHD1):c.1203G>A (p.Thr401=)
|
rs370222371
|
0.00004
|
NM_015295.3(SMCHD1):c.1329A>G (p.Pro443=)
|
rs374141580
|
0.00004
|
NM_015295.3(SMCHD1):c.1843-18_1843-17insA
|
rs761012092
|
0.00004
|
NM_015295.3(SMCHD1):c.2289G>A (p.Ser763=)
|
rs58683258
|
0.00004
|
NM_015295.3(SMCHD1):c.2604-7T>C
|
rs751707679
|
0.00004
|
NM_015295.3(SMCHD1):c.2605G>A (p.Gly869Ser)
|
rs757305853
|
0.00004
|
NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly)
|
rs200521548
|
0.00004
|
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)
|
rs369550628
|
0.00004
|
NM_015295.3(SMCHD1):c.3023C>T (p.Thr1008Met)
|
rs771100083
|
0.00004
|
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=)
|
rs567120742
|
0.00004
|
NM_015295.3(SMCHD1):c.3312G>C (p.Leu1104Phe)
|
rs886042340
|
0.00004
|
NM_015295.3(SMCHD1):c.333G>A (p.Thr111=)
|
rs761171049
|
0.00004
|
NM_015295.3(SMCHD1):c.3340G>A (p.Val1114Ile)
|
rs778206654
|
0.00004
|
NM_015295.3(SMCHD1):c.3361A>G (p.Met1121Val)
|
rs572540832
|
0.00004
|
NM_015295.3(SMCHD1):c.3435T>C (p.Pro1145=)
|
rs747652827
|
0.00004
|
NM_015295.3(SMCHD1):c.3606T>C (p.Asp1202=)
|
rs539377223
|
0.00004
|
NM_015295.3(SMCHD1):c.3652A>C (p.Ser1218Arg)
|
rs756052658
|
0.00004
|
NM_015295.3(SMCHD1):c.3716G>A (p.Arg1239His)
|
rs750301200
|
0.00004
|
NM_015295.3(SMCHD1):c.3868G>T (p.Asp1290Tyr)
|
rs146798599
|
0.00004
|
NM_015295.3(SMCHD1):c.4347-12T>C
|
rs769640288
|
0.00004
|
NM_015295.3(SMCHD1):c.4544G>A (p.Arg1515Lys)
|
rs372451234
|
0.00004
|
NM_015295.3(SMCHD1):c.473G>A (p.Arg158His)
|
rs531460906
|
0.00004
|
NM_015295.3(SMCHD1):c.5046A>G (p.Thr1682=)
|
rs886043784
|
0.00004
|
NM_015295.3(SMCHD1):c.5275G>A (p.Ala1759Thr)
|
rs753994912
|
0.00004
|
NM_015295.3(SMCHD1):c.6005A>C (p.Lys2002Thr)
|
rs959328
|
0.00004
|
NM_015295.3(SMCHD1):c.744A>G (p.Gln248=)
|
rs746148722
|
0.00004
|
NM_015295.3(SMCHD1):c.873+10A>T
|
rs1177629965
|
0.00004
|
NM_015295.3(SMCHD1):c.920A>G (p.His307Arg)
|
rs755508169
|
0.00004
|
NM_015295.3(SMCHD1):c.1186C>A (p.Gln396Lys)
|
rs377471712
|
0.00003
|
NM_015295.3(SMCHD1):c.1191C>T (p.Asp397=)
|
rs535674229
|
0.00003
|
NM_015295.3(SMCHD1):c.2424A>C (p.Pro808=)
|
rs374039360
|
0.00003
|
NM_015295.3(SMCHD1):c.3251C>T (p.Thr1084Ile)
|
rs371392245
|
0.00003
|
NM_015295.3(SMCHD1):c.3276+8T>C
|
rs772312020
|
0.00003
|
NM_015295.3(SMCHD1):c.3633+10C>T
|
rs368857612
|
0.00003
|
NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala)
|
rs751463286
|
0.00003
|
NM_015295.3(SMCHD1):c.40G>A (p.Val14Met)
|
rs559283578
|
0.00003
|
NM_015295.3(SMCHD1):c.4306A>G (p.Ile1436Val)
|
rs371280641
|
0.00003
|
NM_015295.3(SMCHD1):c.4966+19A>G
|
rs778801964
|
0.00003
|
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)
|
rs151311806
|
0.00003
|
NM_015295.3(SMCHD1):c.5127G>A (p.Ser1709=)
|
rs371834462
|
0.00003
|
NM_015295.3(SMCHD1):c.5281C>T (p.Arg1761Cys)
|
rs370977174
|
0.00003
|
NM_015295.3(SMCHD1):c.5335A>G (p.Ile1779Val)
|
rs747553146
|
0.00003
|
NM_015295.3(SMCHD1):c.5478A>G (p.Val1826=)
|
rs886043464
|
0.00003
|
NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=)
|
rs886044408
|
0.00003
|
NM_015295.3(SMCHD1):c.5879-17A>G
|
rs763402425
|
0.00003
|
NM_015295.3(SMCHD1):c.5936C>T (p.Thr1979Met)
|
rs747322089
|
0.00003
|
NM_015295.3(SMCHD1):c.677G>A (p.Arg226His)
|
rs1012435079
|
0.00003
|
NM_015295.3(SMCHD1):c.1156G>A (p.Val386Ile)
|
rs753435352
|
0.00002
|
NM_015295.3(SMCHD1):c.1218A>G (p.Thr406=)
|
rs963226015
|
0.00002
|
NM_015295.3(SMCHD1):c.1320T>C (p.Pro440=)
|
rs200156169
|
0.00002
|
NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=)
|
rs755868793
|
0.00002
|
NM_015295.3(SMCHD1):c.2147-14T>C
|
rs2074554013
|
0.00002
|
NM_015295.3(SMCHD1):c.2154A>G (p.Leu718=)
|
rs776954514
|
0.00002
|
NM_015295.3(SMCHD1):c.247A>G (p.Thr83Ala)
|
rs772782379
|
0.00002
|
NM_015295.3(SMCHD1):c.2507G>A (p.Arg836His)
|
rs762661772
|
0.00002
|
NM_015295.3(SMCHD1):c.2731T>A (p.Leu911Ile)
|
rs770371694
|
0.00002
|
NM_015295.3(SMCHD1):c.2914-5A>G
|
rs1215623273
|
0.00002
|
NM_015295.3(SMCHD1):c.2944G>C (p.Val982Leu)
|
rs375962247
|
0.00002
|
NM_015295.3(SMCHD1):c.2945T>C (p.Val982Ala)
|
rs944887850
|
0.00002
|
NM_015295.3(SMCHD1):c.297G>C (p.Leu99=)
|
rs775442569
|
0.00002
|
NM_015295.3(SMCHD1):c.3106G>A (p.Val1036Ile)
|
rs183236583
|
0.00002
|
NM_015295.3(SMCHD1):c.3425+16_3425+18dup
|
rs1213313124
|
0.00002
|
NM_015295.3(SMCHD1):c.3463A>G (p.Met1155Val)
|
rs559928798
|
0.00002
|
NM_015295.3(SMCHD1):c.3546G>T (p.Gln1182His)
|
rs757626505
|
0.00002
|
NM_015295.3(SMCHD1):c.3586A>G (p.Ile1196Val)
|
rs1443828515
|
0.00002
|
NM_015295.3(SMCHD1):c.3710C>T (p.Thr1237Ile)
|
rs761222520
|
0.00002
|
NM_015295.3(SMCHD1):c.3732T>C (p.Phe1244=)
|
rs765602142
|
0.00002
|
NM_015295.3(SMCHD1):c.3881C>T (p.Pro1294Leu)
|
rs759140838
|
0.00002
|
NM_015295.3(SMCHD1):c.3890A>G (p.His1297Arg)
|
rs932696032
|
0.00002
|
NM_015295.3(SMCHD1):c.4040A>G (p.Tyr1347Cys)
|
rs774156694
|
0.00002
|
NM_015295.3(SMCHD1):c.4178G>C (p.Ser1393Thr)
|
rs369758530
|
0.00002
|
NM_015295.3(SMCHD1):c.4272C>A (p.Pro1424=)
|
rs752121089
|
0.00002
|
NM_015295.3(SMCHD1):c.4281T>C (p.Asn1427=)
|
rs757680634
|
0.00002
|
NM_015295.3(SMCHD1):c.4282-16C>T
|
rs746082747
|
0.00002
|
NM_015295.3(SMCHD1):c.4598T>C (p.Leu1533Ser)
|
rs368255259
|
0.00002
|
NM_015295.3(SMCHD1):c.4599G>T (p.Leu1533Phe)
|
rs770018521
|
0.00002
|
NM_015295.3(SMCHD1):c.4700A>G (p.Asn1567Ser)
|
rs750920961
|
0.00002
|
NM_015295.3(SMCHD1):c.4786C>T (p.Arg1596Trp)
|
rs746646525
|
0.00002
|
NM_015295.3(SMCHD1):c.4787G>A (p.Arg1596Gln)
|
rs770649222
|
0.00002
|
NM_015295.3(SMCHD1):c.4798T>G (p.Leu1600Val)
|
rs769207224
|
0.00002
|
NM_015295.3(SMCHD1):c.485T>C (p.Val162Ala)
|
rs748341516
|
0.00002
|
NM_015295.3(SMCHD1):c.5526G>A (p.Ala1842=)
|
rs760266416
|
0.00002
|
NM_015295.3(SMCHD1):c.5646A>C (p.Pro1882=)
|
rs557482877
|
0.00002
|
NM_015295.3(SMCHD1):c.5993+16C>G
|
rs377444596
|
0.00002
|
NM_015295.3(SMCHD1):c.1040+1G>A
|
rs1245372794
|
0.00001
|
NM_015295.3(SMCHD1):c.1088G>A (p.Arg363Gln)
|
rs1424377867
|
0.00001
|
NM_015295.3(SMCHD1):c.1132-13C>T
|
rs765394765
|
0.00001
|
NM_015295.3(SMCHD1):c.1160C>T (p.Pro387Leu)
|
rs754679117
|
0.00001
|
NM_015295.3(SMCHD1):c.1247A>G (p.His416Arg)
|
rs2074319161
|
0.00001
|
NM_015295.3(SMCHD1):c.1283G>A (p.Arg428His)
|
rs767850671
|
0.00001
|
NM_015295.3(SMCHD1):c.130C>A (p.Pro44Thr)
|
rs1271107369
|
0.00001
|
NM_015295.3(SMCHD1):c.1326T>G (p.Asp442Glu)
|
rs199596161
|
0.00001
|
NM_015295.3(SMCHD1):c.1339T>A (p.Ser447Thr)
|
rs1325548788
|
0.00001
|
NM_015295.3(SMCHD1):c.1390G>T (p.Ala464Ser)
|
rs752328609
|
0.00001
|
NM_015295.3(SMCHD1):c.1525A>G (p.Ile509Val)
|
rs1598335785
|
0.00001
|
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met)
|
rs397518422
|
0.00001
|
NM_015295.3(SMCHD1):c.1581G>A (p.Thr527=)
|
rs761176866
|
0.00001
|
NM_015295.3(SMCHD1):c.160G>A (p.Ala54Thr)
|
rs1215654409
|
0.00001
|
NM_015295.3(SMCHD1):c.1647+7T>A
|
rs1339306673
|
0.00001
|
NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter)
|
rs1224850132
|
0.00001
|
NM_015295.3(SMCHD1):c.1801G>T (p.Ala601Ser)
|
rs886044519
|
0.00001
|
NM_015295.3(SMCHD1):c.1824A>G (p.Ile608Met)
|
rs577011893
|
0.00001
|
NM_015295.3(SMCHD1):c.1905C>T (p.Gly635=)
|
rs770290837
|
0.00001
|
NM_015295.3(SMCHD1):c.1996A>G (p.Ile666Val)
|
rs529127480
|
0.00001
|
NM_015295.3(SMCHD1):c.19G>A (p.Gly7Ser)
|
rs762420641
|
0.00001
|
NM_015295.3(SMCHD1):c.2021C>G (p.Ala674Gly)
|
rs2074515864
|
0.00001
|
NM_015295.3(SMCHD1):c.202C>T (p.Pro68Ser)
|
rs1450657748
|
0.00001
|
NM_015295.3(SMCHD1):c.2067C>T (p.Leu689=)
|
rs753167881
|
0.00001
|
NM_015295.3(SMCHD1):c.2260+7A>G
|
rs764802774
|
0.00001
|
NM_015295.3(SMCHD1):c.2261-12T>C
|
rs1358948386
|
0.00001
|
NM_015295.3(SMCHD1):c.2283T>C (p.Ile761=)
|
rs773520979
|
0.00001
|
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=)
|
rs760899591
|
0.00001
|
NM_015295.3(SMCHD1):c.2506C>T (p.Arg836Cys)
|
rs777201756
|
0.00001
|
NM_015295.3(SMCHD1):c.2520A>G (p.Pro840=)
|
rs1445022098
|
0.00001
|
NM_015295.3(SMCHD1):c.2532T>G (p.Pro844=)
|
rs772962657
|
0.00001
|
NM_015295.3(SMCHD1):c.2533C>G (p.Leu845Val)
|
rs1173599215
|
0.00001
|
NM_015295.3(SMCHD1):c.2577T>C (p.Thr859=)
|
rs1408054045
|
0.00001
|
NM_015295.3(SMCHD1):c.2604T>C (p.Ser868=)
|
rs2074995865
|
0.00001
|
NM_015295.3(SMCHD1):c.262+4G>A
|
rs1390219024
|
0.00001
|
NM_015295.3(SMCHD1):c.263-12T>C
|
rs1173742117
|
0.00001
|
NM_015295.3(SMCHD1):c.2660G>C (p.Gly887Ala)
|
rs1460743863
|
0.00001
|
NM_015295.3(SMCHD1):c.2700+12G>A
|
rs376324678
|
0.00001
|
NM_015295.3(SMCHD1):c.2701-14T>G
|
rs777446610
|
0.00001
|
NM_015295.3(SMCHD1):c.2701-8T>C
|
rs1324600079
|
0.00001
|
NM_015295.3(SMCHD1):c.2773+6A>G
|
rs1047960354
|
0.00001
|
NM_015295.3(SMCHD1):c.2783G>A (p.Arg928His)
|
rs1160353418
|
0.00001
|
NM_015295.3(SMCHD1):c.2799A>G (p.Lys933=)
|
rs368087638
|
0.00001
|
NM_015295.3(SMCHD1):c.2979A>G (p.Leu993=)
|
rs575046640
|
0.00001
|
NM_015295.3(SMCHD1):c.3049-6T>G
|
rs758476553
|
0.00001
|
NM_015295.3(SMCHD1):c.3124T>C (p.Phe1042Leu)
|
rs561778813
|
0.00001
|
NM_015295.3(SMCHD1):c.3245A>G (p.Asn1082Ser)
|
rs756368420
|
0.00001
|
NM_015295.3(SMCHD1):c.3260T>C (p.Leu1087Ser)
|
rs930009782
|
0.00001
|
NM_015295.3(SMCHD1):c.3277-5C>T
|
rs542259388
|
0.00001
|
NM_015295.3(SMCHD1):c.3471A>G (p.Gly1157=)
|
rs375795599
|
0.00001
|
NM_015295.3(SMCHD1):c.3495A>G (p.Gln1165=)
|
rs547534862
|
0.00001
|
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met)
|
rs536643888
|
0.00001
|
NM_015295.3(SMCHD1):c.35C>A (p.Ala12Asp)
|
rs955025983
|
0.00001
|
NM_015295.3(SMCHD1):c.3654T>C (p.Ser1218=)
|
rs1346924634
|
0.00001
|
NM_015295.3(SMCHD1):c.3743A>C (p.Gln1248Pro)
|
rs936898120
|
0.00001
|
NM_015295.3(SMCHD1):c.3760C>G (p.Pro1254Ala)
|
rs755677576
|
0.00001
|
NM_015295.3(SMCHD1):c.3778A>G (p.Ile1260Val)
|
rs191410697
|
0.00001
|
NM_015295.3(SMCHD1):c.3801+18T>C
|
rs1191159371
|
0.00001
|
NM_015295.3(SMCHD1):c.3891T>C (p.His1297=)
|
rs758075470
|
0.00001
|
NM_015295.3(SMCHD1):c.3948G>A (p.Gln1316=)
|
rs776456103
|
0.00001
|
NM_015295.3(SMCHD1):c.3957A>G (p.Thr1319=)
|
rs759050934
|
0.00001
|
NM_015295.3(SMCHD1):c.4007+7A>G
|
rs763769769
|
0.00001
|
NM_015295.3(SMCHD1):c.4008-18C>T
|
rs748505246
|
0.00001
|
NM_015295.3(SMCHD1):c.4008-3T>C
|
rs780935342
|
0.00001
|
NM_015295.3(SMCHD1):c.4078A>G (p.Met1360Val)
|
rs1345271914
|
0.00001
|
NM_015295.3(SMCHD1):c.4087C>G (p.Pro1363Ala)
|
rs367680898
|
0.00001
|
NM_015295.3(SMCHD1):c.4166-9C>T
|
rs778265654
|
0.00001
|
NM_015295.3(SMCHD1):c.4225C>T (p.Arg1409Cys)
|
rs773163969
|
0.00001
|
NM_015295.3(SMCHD1):c.4226G>A (p.Arg1409His)
|
rs746741499
|
0.00001
|
NM_015295.3(SMCHD1):c.424C>T (p.Pro142Ser)
|
rs780855590
|
0.00001
|
NM_015295.3(SMCHD1):c.4294A>G (p.Ser1432Gly)
|
rs764323722
|
0.00001
|
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser)
|
rs767898877
|
0.00001
|
NM_015295.3(SMCHD1):c.437C>T (p.Ala146Val)
|
rs886043899
|
0.00001
|
NM_015295.3(SMCHD1):c.4452G>C (p.Leu1484=)
|
rs373559293
|
0.00001
|
NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His)
|
rs756166672
|
0.00001
|
NM_015295.3(SMCHD1):c.4553A>C (p.His1518Pro)
|
rs758405083
|
0.00001
|
NM_015295.3(SMCHD1):c.4565C>T (p.Thr1522Met)
|
rs376982809
|
0.00001
|
NM_015295.3(SMCHD1):c.4567-4T>C
|
rs1324426042
|
0.00001
|
NM_015295.3(SMCHD1):c.4575C>T (p.Tyr1525=)
|
rs757336537
|
0.00001
|
NM_015295.3(SMCHD1):c.4576G>A (p.Asp1526Asn)
|
rs1198273154
|
0.00001
|
NM_015295.3(SMCHD1):c.45G>A (p.Gly15=)
|
rs756352980
|
0.00001
|
NM_015295.3(SMCHD1):c.4609A>G (p.Ile1537Val)
|
rs749634060
|
0.00001
|
NM_015295.3(SMCHD1):c.4615G>T (p.Ala1539Ser)
|
rs372853279
|
0.00001
|
NM_015295.3(SMCHD1):c.4752G>A (p.Arg1584=)
|
rs779960156
|
0.00001
|
NM_015295.3(SMCHD1):c.4795C>A (p.Leu1599Ile)
|
rs780994607
|
0.00001
|
NM_015295.3(SMCHD1):c.482G>T (p.Gly161Val)
|
rs376920153
|
0.00001
|
NM_015295.3(SMCHD1):c.4894C>G (p.Gln1632Glu)
|
rs1365539591
|
0.00001
|
NM_015295.3(SMCHD1):c.4938C>T (p.Ala1646=)
|
rs559005440
|
0.00001
|
NM_015295.3(SMCHD1):c.5016A>G (p.Leu1672=)
|
rs890327982
|
0.00001
|
NM_015295.3(SMCHD1):c.507+12A>C
|
rs1433903378
|
0.00001
|
NM_015295.3(SMCHD1):c.5175+3T>C
|
rs751445777
|
0.00001
|
NM_015295.3(SMCHD1):c.5291A>G (p.Tyr1764Cys)
|
rs1167815943
|
0.00001
|
NM_015295.3(SMCHD1):c.5366+6A>G
|
rs771277442
|
0.00001
|
NM_015295.3(SMCHD1):c.5387A>C (p.Asn1796Thr)
|
rs760754729
|
0.00001
|
NM_015295.3(SMCHD1):c.5396T>G (p.Leu1799Trp)
|
rs1008517374
|
0.00001
|
NM_015295.3(SMCHD1):c.5502C>G (p.Thr1834=)
|
rs886042412
|
0.00001
|
NM_015295.3(SMCHD1):c.5547+19T>C
|
rs764978818
|
0.00001
|
NM_015295.3(SMCHD1):c.5547+20T>C
|
rs565471829
|
0.00001
|
NM_015295.3(SMCHD1):c.55G>C (p.Asp19His)
|
rs748596758
|
0.00001
|
NM_015295.3(SMCHD1):c.561A>T (p.Arg187Ser)
|
rs375259752
|
0.00001
|
NM_015295.3(SMCHD1):c.569C>G (p.Thr190Ser)
|
rs1459162980
|
0.00001
|
NM_015295.3(SMCHD1):c.5737C>T (p.Arg1913Cys)
|
rs764493125
|
0.00001
|
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His)
|
rs1405560459
|
0.00001
|
NM_015295.3(SMCHD1):c.5887C>G (p.Pro1963Ala)
|
rs1345578577
|
0.00001
|
NM_015295.3(SMCHD1):c.5907C>G (p.Asp1969Glu)
|
rs553815732
|
0.00001
|
NM_015295.3(SMCHD1):c.5914C>T (p.Arg1972Cys)
|
rs778853203
|
0.00001
|
NM_015295.3(SMCHD1):c.5915G>A (p.Arg1972His)
|
rs747849441
|
0.00001
|
NM_015295.3(SMCHD1):c.5917C>T (p.His1973Tyr)
|
rs1168784839
|
0.00001
|
NM_015295.3(SMCHD1):c.5937G>A (p.Thr1979=)
|
rs776794549
|
0.00001
|
NM_015295.3(SMCHD1):c.595G>A (p.Val199Met)
|
rs2073683695
|
0.00001
|
NM_015295.3(SMCHD1):c.6011A>G (p.Asp2004Gly)
|
rs374747323
|
0.00001
|
NM_015295.3(SMCHD1):c.630C>T (p.Asp210=)
|
rs778017141
|
0.00001
|
NM_015295.3(SMCHD1):c.63A>G (p.Gly21=)
|
rs772718353
|
0.00001
|
NM_015295.3(SMCHD1):c.650G>T (p.Gly217Val)
|
rs754937252
|
0.00001
|
NM_015295.3(SMCHD1):c.758T>C (p.Ile253Thr)
|
rs1057518622
|
0.00001
|
NM_015295.3(SMCHD1):c.76A>T (p.Arg26Trp)
|
rs747375741
|
0.00001
|
NM_015295.3(SMCHD1):c.90G>A (p.Leu30=)
|
rs1555622278
|
0.00001
|
NM_015295.3(SMCHD1):c.953G>C (p.Ser318Thr)
|
rs745495716
|
0.00001
|
NM_015295.3(SMCHD1):c.954C>T (p.Ser318=)
|
rs769558309
|
0.00001
|
NM_015295.3(SMCHD1):c.994A>G (p.Ile332Val)
|
rs748848954
|
0.00001
|
GRCh37/hg19 18p11.32(chr18:2682920-2803186)x3
|
|
|
GRCh37/hg19 18p11.32(chr18:2690355-2776268)x3
|
|
|
GRCh37/hg19 18p11.32(chr18:2740714-2791071)x3
|
|
|
GRCh38/hg38 18p11.32(chr18:2770295-2816145)x3
|
|
|
NC_000018.9:g.(?_2656075)_(2656280_?)del
|
|
|
NC_000018.9:g.(?_2656075)_(2688765_?)del
|
|
|
NC_000018.9:g.(?_2656075)_(2802550_?)dup
|
|
|
NC_000018.9:g.(?_2666136)_(2667050_?)del
|
|
|
NC_000018.9:g.(?_2718136)_(2718452_?)del
|
|
|
NC_000018.9:g.(?_2718136)_(2743946_?)dup
|
|
|
NC_000018.9:g.(?_2738375)_(2802550_?)del
|
|
|
NC_000018.9:g.(?_2760630)_(2802550_?)del
|
|
|
NC_000018.9:g.(?_2763625)_(2763797_?)del
|
|
|
NC_000018.9:g.(?_2795927)_(2802550_?)dup
|
|
|
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs)
|
rs1555635144
|
|
NM_015295.3(SMCHD1):c.1003T>C (p.Leu335=)
|
|
|
NM_015295.3(SMCHD1):c.1019A>C (p.His340Pro)
|
|
|
NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter)
|
rs886041918
|
|
NM_015295.3(SMCHD1):c.1033C>G (p.Gln345Glu)
|
rs2074249757
|
|
NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg)
|
rs1057519639
|
|
NM_015295.3(SMCHD1):c.1040+11A>G
|
|
|
NM_015295.3(SMCHD1):c.1041-16T>C
|
|
|
NM_015295.3(SMCHD1):c.1041-9C>T
|
rs1444381490
|
|
NM_015295.3(SMCHD1):c.1043A>G (p.His348Arg)
|
rs1057519640
|
|
NM_015295.3(SMCHD1):c.1049A>T (p.Tyr350Phe)
|
|
|
NM_015295.3(SMCHD1):c.105A>G (p.Glu35=)
|
|
|
NM_015295.3(SMCHD1):c.1069C>T (p.Pro357Ser)
|
|
|
NM_015295.3(SMCHD1):c.1091C>T (p.Thr364Ile)
|
|
|
NM_015295.3(SMCHD1):c.109G>A (p.Glu37Lys)
|
|
|
NM_015295.3(SMCHD1):c.1103T>A (p.Val368Asp)
|
|
|
NM_015295.3(SMCHD1):c.1126A>T (p.Ile376Phe)
|
rs185618962
|
|
NM_015295.3(SMCHD1):c.1131+16A>T
|
rs7235096
|
|
NM_015295.3(SMCHD1):c.1132-146A>G
|
rs62084202
|
|
NM_015295.3(SMCHD1):c.1132-18G>T
|
|
|
NM_015295.3(SMCHD1):c.1132-20T>G
|
|
|
NM_015295.3(SMCHD1):c.1132-8T>C
|
rs2143153429
|
|
NM_015295.3(SMCHD1):c.1138A>G (p.Met380Val)
|
rs752031550
|
|
NM_015295.3(SMCHD1):c.114C>A (p.Ser38=)
|
|
|
NM_015295.3(SMCHD1):c.114C>G (p.Ser38=)
|
rs191609659
|
|
NM_015295.3(SMCHD1):c.1150G>T (p.Gly384Trp)
|
rs2143153711
|
|
NM_015295.3(SMCHD1):c.1152G>A (p.Gly384=)
|
|
|
NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=)
|
rs778279069
|
|
NM_015295.3(SMCHD1):c.1169T>A (p.Val390Asp)
|
|
|
NM_015295.3(SMCHD1):c.1172A>G (p.Asn391Ser)
|
rs1598331615
|
|
NM_015295.3(SMCHD1):c.1173C>T (p.Asn391=)
|
rs771879056
|
|
NM_015295.3(SMCHD1):c.1177A>G (p.Arg393Gly)
|
rs2074317652
|
|
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)
|
rs377471712
|
|
NM_015295.3(SMCHD1):c.1197G>T (p.Met399Ile)
|
rs1555632930
|
|
NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu)
|
rs1057519642
|
|
NM_015295.3(SMCHD1):c.1199del (p.Gln400fs)
|
|
|
NM_015295.3(SMCHD1):c.11C>T (p.Ala4Val)
|
|
|
NM_015295.3(SMCHD1):c.1202C>T (p.Thr401Met)
|
rs1555632935
|
|
NM_015295.3(SMCHD1):c.120C>T (p.Leu40=)
|
|
|
NM_015295.3(SMCHD1):c.120del (p.Asp42fs)
|
rs1555622310
|
|
NM_015295.3(SMCHD1):c.1216A>C (p.Thr406Pro)
|
|
|
NM_015295.3(SMCHD1):c.121G>A (p.Gly41Arg)
|
rs1555622312
|
|
NM_015295.3(SMCHD1):c.1239C>T (p.Phe413=)
|
rs2074318840
|
|
NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val)
|
rs1135402742
|
|
NM_015295.3(SMCHD1):c.1264G>A (p.Val422Ile)
|
|
|
NM_015295.3(SMCHD1):c.1268T>C (p.Val423Ala)
|
|
|
NM_015295.3(SMCHD1):c.1282del (p.Arg428fs)
|
rs2143155004
|
|
NM_015295.3(SMCHD1):c.1283G>T (p.Arg428Leu)
|
|
|
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)
|
rs886044914
|
|
NM_015295.3(SMCHD1):c.1291C>T (p.Pro431Ser)
|
rs2143155206
|
|
NM_015295.3(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer)
|
rs387907319
|
|
NM_015295.3(SMCHD1):c.1304A>G (p.Asp435Gly)
|
|
|
NM_015295.3(SMCHD1):c.1314_1317del (p.Tyr439fs)
|
|
|
NM_015295.3(SMCHD1):c.131C>T (p.Pro44Leu)
|
|
|
NM_015295.3(SMCHD1):c.1330T>G (p.Cys444Gly)
|
|
|
NM_015295.3(SMCHD1):c.133C>T (p.Leu45=)
|
|
|
NM_015295.3(SMCHD1):c.1342+18C>T
|
|
|
NM_015295.3(SMCHD1):c.1343-15G>A
|
|
|
NM_015295.3(SMCHD1):c.1343-19A>G
|
|
|
NM_015295.3(SMCHD1):c.1343-4C>T
|
rs1216116526
|
|
NM_015295.3(SMCHD1):c.1343-7G>C
|
|
|
NM_015295.3(SMCHD1):c.1367A>G (p.Asp456Gly)
|
rs1471076468
|
|
NM_015295.3(SMCHD1):c.1374T>C (p.Cys458=)
|
|
|
NM_015295.3(SMCHD1):c.1382T>C (p.Leu461Pro)
|
|
|
NM_015295.3(SMCHD1):c.1395T>C (p.Ala465=)
|
|
|
NM_015295.3(SMCHD1):c.1396A>T (p.Arg466Ter)
|
rs2143182200
|
|
NM_015295.3(SMCHD1):c.1401G>A (p.Gly467=)
|
|
|
NM_015295.3(SMCHD1):c.1417G>C (p.Glu473Gln)
|
rs1135402743
|
|
NM_015295.3(SMCHD1):c.1420T>C (p.Cys474Arg)
|
|
|
NM_015295.3(SMCHD1):c.1421del (p.Cys474fs)
|
rs886043188
|
|
NM_015295.3(SMCHD1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_015295.3(SMCHD1):c.143G>C (p.Gly48Ala)
|
|
|
NM_015295.3(SMCHD1):c.1446A>G (p.Pro482=)
|
rs754277921
|
|
NM_015295.3(SMCHD1):c.1450A>G (p.Thr484Ala)
|
|
|
NM_015295.3(SMCHD1):c.1463+10A>G
|
rs2074381441
|
|
NM_015295.3(SMCHD1):c.1463+15T>C
|
|
|
NM_015295.3(SMCHD1):c.1463+7_1463+8dup
|
|
|
NM_015295.3(SMCHD1):c.1464-15T>G
|
rs1802886942
|
|
NM_015295.3(SMCHD1):c.1464-7G>C
|
rs1347095679
|
|
NM_015295.3(SMCHD1):c.1464-9C>T
|
|
|
NM_015295.3(SMCHD1):c.1473G>C (p.Trp491Cys)
|
|
|
NM_015295.3(SMCHD1):c.1473G>T (p.Trp491Cys)
|
rs1568176024
|
|
NM_015295.3(SMCHD1):c.1480CCT[1] (p.Pro495del)
|
|
|
NM_015295.3(SMCHD1):c.1487AGA[1] (p.Lys497del)
|
rs886043345
|
|
NM_015295.3(SMCHD1):c.148C>G (p.Arg50Gly)
|
|
|
NM_015295.3(SMCHD1):c.1502C>T (p.Ala501Val)
|
|
|
NM_015295.3(SMCHD1):c.1503A>G (p.Ala501=)
|
|
|
NM_015295.3(SMCHD1):c.1504C>G (p.Pro502Ala)
|
rs1355109257
|
|
NM_015295.3(SMCHD1):c.1507A>G (p.Ile503Val)
|
|
|
NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)
|
|
|
NM_015295.3(SMCHD1):c.1532G>A (p.Gly511Asp)
|
|
|
NM_015295.3(SMCHD1):c.1535C>T (p.Ala512Val)
|
|
|
NM_015295.3(SMCHD1):c.1548T>C (p.Asn516=)
|
|
|
NM_015295.3(SMCHD1):c.1565G>A (p.Ser522Asn)
|
rs2074384298
|
|
NM_015295.3(SMCHD1):c.1566C>G (p.Ser522Arg)
|
rs1555633547
|
|
NM_015295.3(SMCHD1):c.1568C>A (p.Thr523Lys)
|
rs1135402744
|
|
NM_015295.3(SMCHD1):c.1571A>G (p.Asn524Ser)
|
rs1135402745
|
|
NM_015295.3(SMCHD1):c.1595A>G (p.Glu532Gly)
|
|
|
NM_015295.3(SMCHD1):c.15C>A (p.Asp5Glu)
|
rs769401596
|
|
NM_015295.3(SMCHD1):c.15C>T (p.Asp5=)
|
|
|
NM_015295.3(SMCHD1):c.1608del (p.Asp537fs)
|
rs1057519614
|
|
NM_015295.3(SMCHD1):c.162G>A (p.Ala54=)
|
rs766395572
|
|
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)
|
rs766395572
|
|
NM_015295.3(SMCHD1):c.1642G>A (p.Gly548Arg)
|
|
|
NM_015295.3(SMCHD1):c.1647+16A>G
|
rs2143185143
|
|
NM_015295.3(SMCHD1):c.1647+1G>T
|
|
|
NM_015295.3(SMCHD1):c.1647+245dup
|
rs200431551
|
|
NM_015295.3(SMCHD1):c.1647+259dup
|
rs60371199
|
|
NM_015295.3(SMCHD1):c.1647+28A>G
|
|
|
NM_015295.3(SMCHD1):c.1647+3A>G
|
rs2143184995
|
|
NM_015295.3(SMCHD1):c.1648-3C>T
|
|
|
NM_015295.3(SMCHD1):c.1648-4A>G
|
|
|
NM_015295.3(SMCHD1):c.1648-4_1648-3delinsTT
|
rs2143213299
|
|
NM_015295.3(SMCHD1):c.1651C>T (p.Gln551Ter)
|
rs2143213381
|
|
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln)
|
rs886042392
|
|
NM_015295.3(SMCHD1):c.1672_1673del (p.Glu558fs)
|
rs1568183325
|
|
NM_015295.3(SMCHD1):c.169C>T (p.Arg57Cys)
|
|
|
NM_015295.3(SMCHD1):c.1717_1720del (p.Lys572_Gln573insTer)
|
|
|
NM_015295.3(SMCHD1):c.1718A>C (p.Gln573Pro)
|
rs2143213762
|
|
NM_015295.3(SMCHD1):c.1757C>T (p.Pro586Leu)
|
|
|
NM_015295.3(SMCHD1):c.1768_1769delinsAA (p.Ser590Asn)
|
rs886043386
|
|
NM_015295.3(SMCHD1):c.1784C>T (p.Pro595Leu)
|
rs2074455499
|
|
NM_015295.3(SMCHD1):c.1786T>G (p.Trp596Gly)
|
rs2143214372
|
|
NM_015295.3(SMCHD1):c.1793C>T (p.Thr598Ile)
|
|
|
NM_015295.3(SMCHD1):c.17G>T (p.Gly6Val)
|
|
|
NM_015295.3(SMCHD1):c.1802C>G (p.Ala601Gly)
|
|
|
NM_015295.3(SMCHD1):c.1807G>A (p.Glu603Lys)
|
rs2143214594
|
|
NM_015295.3(SMCHD1):c.1807G>C (p.Glu603Gln)
|
|
|
NM_015295.3(SMCHD1):c.1810T>A (p.Trp604Arg)
|
rs886042753
|
|
NM_015295.3(SMCHD1):c.1818A>G (p.Gly606=)
|
rs1360515676
|
|
NM_015295.3(SMCHD1):c.1829A>G (p.Lys610Arg)
|
|
|
NM_015295.3(SMCHD1):c.1843-12del
|
|
|
NM_015295.3(SMCHD1):c.1843-12dup
|
rs556665119
|
|
NM_015295.3(SMCHD1):c.1843-16A>G
|
rs569911568
|
|
NM_015295.3(SMCHD1):c.1843-17del
|
rs377473058
|
|
NM_015295.3(SMCHD1):c.1843-17dup
|
rs377473058
|
|
NM_015295.3(SMCHD1):c.1843-18_1843-17inv
|
|
|
NM_015295.3(SMCHD1):c.1843-1G>A
|
rs886043146
|
|
NM_015295.3(SMCHD1):c.1843-8_1843-5del
|
rs765362255
|
|
NM_015295.3(SMCHD1):c.1844T>G (p.Val615Gly)
|
rs2143233414
|
|
NM_015295.3(SMCHD1):c.1848G>C (p.Lys616Asn)
|
rs1568188312
|
|
NM_015295.3(SMCHD1):c.1867C>A (p.Leu623Ile)
|
rs886042326
|
|
NM_015295.3(SMCHD1):c.187-110A>C
|
rs9947882
|
|
NM_015295.3(SMCHD1):c.187-14C>T
|
|
|
NM_015295.3(SMCHD1):c.187-7T>C
|
|
|
NM_015295.3(SMCHD1):c.1872_1873del (p.Phe624fs)
|
rs1568188407
|
|
NM_015295.3(SMCHD1):c.1886dup (p.Arg630fs)
|
rs2143233837
|
|
NM_015295.3(SMCHD1):c.1891T>C (p.Phe631Leu)
|
rs2143233975
|
|
NM_015295.3(SMCHD1):c.189A>T (p.Thr63=)
|
|
|
NM_015295.3(SMCHD1):c.1907A>T (p.Asp636Val)
|
|
|
NM_015295.3(SMCHD1):c.1908T>C (p.Asp636=)
|
|
|
NM_015295.3(SMCHD1):c.190C>T (p.Leu64Phe)
|
rs969088652
|
|
NM_015295.3(SMCHD1):c.1910A>G (p.His637Arg)
|
rs920418184
|
|
NM_015295.3(SMCHD1):c.1911T>C (p.His637=)
|
rs2143234263
|
|
NM_015295.3(SMCHD1):c.1913A>T (p.Asp638Val)
|
rs2143234295
|
|
NM_015295.3(SMCHD1):c.1915G>A (p.Gly639Arg)
|
rs2143234327
|
|
NM_015295.3(SMCHD1):c.1916_1918del (p.Gly639del)
|
rs1598342592
|
|
NM_015295.3(SMCHD1):c.1918G>T (p.Glu640Ter)
|
|
|
NM_015295.3(SMCHD1):c.1930A>G (p.Thr644Ala)
|
rs1201929244
|
|
NM_015295.3(SMCHD1):c.1932A>G (p.Thr644=)
|
rs930570856
|
|
NM_015295.3(SMCHD1):c.1932A>T (p.Thr644=)
|
rs930570856
|
|
NM_015295.3(SMCHD1):c.1942G>T (p.Val648Phe)
|
|
|
NM_015295.3(SMCHD1):c.194G>A (p.Gly65Asp)
|
rs981876921
|
|
NM_015295.3(SMCHD1):c.1956+9G>A
|
|
|
NM_015295.3(SMCHD1):c.1971A>G (p.Leu657=)
|
rs763782013
|
|
NM_015295.3(SMCHD1):c.1975G>A (p.Asp659Asn)
|
|
|
NM_015295.3(SMCHD1):c.1976A>G (p.Asp659Gly)
|
|
|
NM_015295.3(SMCHD1):c.1980A>C (p.Glu660Asp)
|
|
|
NM_015295.3(SMCHD1):c.1980A>G (p.Glu660=)
|
|
|
NM_015295.3(SMCHD1):c.1987A>G (p.Thr663Ala)
|
|
|
NM_015295.3(SMCHD1):c.2004G>A (p.Lys668=)
|
|
|
NM_015295.3(SMCHD1):c.2008G>T (p.Asp670Tyr)
|
rs2143241656
|
|
NM_015295.3(SMCHD1):c.200C>T (p.Ser67Leu)
|
|
|
NM_015295.3(SMCHD1):c.2014A>G (p.Thr672Ala)
|
|
|
NM_015295.3(SMCHD1):c.2033T>A (p.Val678Asp)
|
|
|
NM_015295.3(SMCHD1):c.2033T>C (p.Val678Ala)
|
|
|
NM_015295.3(SMCHD1):c.2043T>C (p.Tyr681=)
|
|
|
NM_015295.3(SMCHD1):c.2063+19T>C
|
|
|
NM_015295.3(SMCHD1):c.2063G>C (p.Arg688Thr)
|
|
|
NM_015295.3(SMCHD1):c.2064-200del
|
rs375152655
|
|
NM_015295.3(SMCHD1):c.2064-20A>G
|
rs1488794671
|
|
NM_015295.3(SMCHD1):c.2064-8C>T
|
|
|
NM_015295.3(SMCHD1):c.2064G>A (p.Arg688=)
|
|
|
NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser)
|
rs397514623
|
|
NM_015295.3(SMCHD1):c.2071_2075del (p.Asp691fs)
|
rs2143255167
|
|
NM_015295.3(SMCHD1):c.2078dup (p.Leu693fs)
|
rs2143255337
|
|
NM_015295.3(SMCHD1):c.2109A>G (p.Leu703=)
|
|
|
NM_015295.3(SMCHD1):c.2112G>A (p.Leu704=)
|
|
|
NM_015295.3(SMCHD1):c.2129dup (p.Ala711fs)
|
rs2074549354
|
|
NM_015295.3(SMCHD1):c.2140C>G (p.Pro714Ala)
|
|
|
NM_015295.3(SMCHD1):c.2142T>A (p.Pro714=)
|
rs2074549685
|
|
NM_015295.3(SMCHD1):c.2146+4T>C
|
|
|
NM_015295.3(SMCHD1):c.2147-16A>G
|
|
|
NM_015295.3(SMCHD1):c.2147-4A>C
|
rs777682119
|
|
NM_015295.3(SMCHD1):c.2166A>C (p.Ile722=)
|
|
|
NM_015295.3(SMCHD1):c.2169G>A (p.Leu723=)
|
rs746090352
|
|
NM_015295.3(SMCHD1):c.216T>G (p.Phe72Leu)
|
|
|
NM_015295.3(SMCHD1):c.2176_2179del (p.Lys726fs)
|
|
|
NM_015295.3(SMCHD1):c.2178_2179del (p.Glu728fs)
|
rs2074555124
|
|
NM_015295.3(SMCHD1):c.2179G>A (p.Gly727Arg)
|
rs1418900866
|
|
NM_015295.3(SMCHD1):c.2192A>C (p.Gln731Pro)
|
|
|
NM_015295.3(SMCHD1):c.2206A>G (p.Thr736Ala)
|
|
|
NM_015295.3(SMCHD1):c.220A>G (p.Ile74Val)
|
|
|
NM_015295.3(SMCHD1):c.2232C>A (p.Leu744=)
|
|
|
NM_015295.3(SMCHD1):c.2241G>T (p.Glu747Asp)
|
|
|
NM_015295.3(SMCHD1):c.2260+12A>G
|
|
|
NM_015295.3(SMCHD1):c.2260+335_2260+346dup
|
rs79163865
|
|
NM_015295.3(SMCHD1):c.2260+3A>G
|
|
|
NM_015295.3(SMCHD1):c.2260+6T>C
|
rs2143259269
|
|
NM_015295.3(SMCHD1):c.2261-21TTTCTTT[3]
|
rs780684469
|
|
NM_015295.3(SMCHD1):c.2261-7T>C
|
rs1598360357
|
|
NM_015295.3(SMCHD1):c.2280G>A (p.Glu760=)
|
|
|
NM_015295.3(SMCHD1):c.2283T>A (p.Ile761=)
|
rs773520979
|
|
NM_015295.3(SMCHD1):c.2289G>T (p.Ser763=)
|
|
|
NM_015295.3(SMCHD1):c.2301A>G (p.Gln767=)
|
|
|
NM_015295.3(SMCHD1):c.230C>G (p.Thr77Arg)
|
|
|
NM_015295.3(SMCHD1):c.2328T>A (p.Phe776Leu)
|
|
|
NM_015295.3(SMCHD1):c.2328del (p.Phe776fs)
|
|
|
NM_015295.3(SMCHD1):c.2335dup (p.Met779fs)
|
|
|
NM_015295.3(SMCHD1):c.2338+14C>T
|
|
|
NM_015295.3(SMCHD1):c.2338+17A>C
|
|
|
NM_015295.3(SMCHD1):c.2338G>A (p.Glu780Lys)
|
rs886044357
|
|
NM_015295.3(SMCHD1):c.2358G>T (p.Gly786=)
|
|
|
NM_015295.3(SMCHD1):c.2359A>G (p.Asn787Asp)
|
|
|
NM_015295.3(SMCHD1):c.2364T>C (p.Tyr788=)
|
|
|
NM_015295.3(SMCHD1):c.2377C>T (p.Gln793Ter)
|
rs2143367390
|
|
NM_015295.3(SMCHD1):c.2384T>C (p.Val795Ala)
|
rs1480135119
|
|
NM_015295.3(SMCHD1):c.2401G>A (p.Ala801Thr)
|
|
|
NM_015295.3(SMCHD1):c.2408C>G (p.Thr803Ser)
|
|
|
NM_015295.3(SMCHD1):c.2411A>T (p.Tyr804Phe)
|
|
|
NM_015295.3(SMCHD1):c.2420G>A (p.Arg807Lys)
|
|
|
NM_015295.3(SMCHD1):c.2421_2422delinsTA (p.Arg807_Pro808delinsSerThr)
|
|
|
NM_015295.3(SMCHD1):c.2424A>G (p.Pro808=)
|
|
|
NM_015295.3(SMCHD1):c.2428C>T (p.Pro810Ser)
|
|
|
NM_015295.3(SMCHD1):c.2455A>C (p.Lys819Gln)
|
|
|
NM_015295.3(SMCHD1):c.2458+171G>T
|
rs28446296
|
|
NM_015295.3(SMCHD1):c.2458+19T>C
|
|
|
NM_015295.3(SMCHD1):c.2458+20A>G
|
|
|
NM_015295.3(SMCHD1):c.2458+3A>C
|
rs1555638164
|
|
NM_015295.3(SMCHD1):c.2459-12T>C
|
|
|
NM_015295.3(SMCHD1):c.2459-19A>T
|
|
|
NM_015295.3(SMCHD1):c.2459-9T>C
|
rs2143405369
|
|
NM_015295.3(SMCHD1):c.2485G>C (p.Gly829Arg)
|
|
|
NM_015295.3(SMCHD1):c.24G>T (p.Gly8=)
|
|
|
NM_015295.3(SMCHD1):c.2507G>T (p.Arg836Leu)
|
|
|
NM_015295.3(SMCHD1):c.2514A>G (p.Gly838=)
|
|
|
NM_015295.3(SMCHD1):c.2529C>T (p.Ile843=)
|
|
|
NM_015295.3(SMCHD1):c.253G>T (p.Asp85Tyr)
|
|
|
NM_015295.3(SMCHD1):c.2568A>T (p.Gln856His)
|
rs1568235257
|
|
NM_015295.3(SMCHD1):c.2599G>A (p.Ala867Thr)
|
|
|
NM_015295.3(SMCHD1):c.2603+11G>T
|
|
|
NM_015295.3(SMCHD1):c.2603+288_2603+290del
|
rs147857184
|
|
NM_015295.3(SMCHD1):c.2604-14T>C
|
rs1199638838
|
|
NM_015295.3(SMCHD1):c.2604-15A>T
|
|
|
NM_015295.3(SMCHD1):c.2604-1G>T
|
rs2143424506
|
|
NM_015295.3(SMCHD1):c.2604-5C>T
|
|
|
NM_015295.3(SMCHD1):c.2604-7del
|
rs142973168
|
|
NM_015295.3(SMCHD1):c.2616A>T (p.Leu872Phe)
|
rs1405635744
|
|
NM_015295.3(SMCHD1):c.261del (p.Phe87fs)
|
rs2143801614
|
|
NM_015295.3(SMCHD1):c.262+18C>T
|
|
|
NM_015295.3(SMCHD1):c.262+1G>A
|
|
|
NM_015295.3(SMCHD1):c.262+1G>T
|
|
|
NM_015295.3(SMCHD1):c.262+20A>G
|
|
|
NM_015295.3(SMCHD1):c.263-15C>T
|
|
|
NM_015295.3(SMCHD1):c.263-8G>C
|
|
|
NM_015295.3(SMCHD1):c.2636_2637delinsGT (p.Lys879Ser)
|
|
|
NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn)
|
rs633422
|
|
NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter)
|
|
|
NM_015295.3(SMCHD1):c.2664T>C (p.Val888=)
|
|
|
NM_015295.3(SMCHD1):c.2668G>A (p.Ala890Thr)
|
|
|
NM_015295.3(SMCHD1):c.266A>T (p.Glu89Val)
|
rs886816476
|
|
NM_015295.3(SMCHD1):c.2671A>C (p.Lys891Gln)
|
|
|
NM_015295.3(SMCHD1):c.2672A>C (p.Lys891Thr)
|
|
|
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
|
|
|
NM_015295.3(SMCHD1):c.2698A>G (p.Lys900Glu)
|
|
|
NM_015295.3(SMCHD1):c.2700+15T>C
|
|
|
NM_015295.3(SMCHD1):c.2700+275A>G
|
rs673364
|
|
NM_015295.3(SMCHD1):c.2701-16T>G
|
|
|
NM_015295.3(SMCHD1):c.2701-211C>A
|
rs62084253
|
|
NM_015295.3(SMCHD1):c.2701-4A>G
|
rs2075029334
|
|
NM_015295.3(SMCHD1):c.2701-8del
|
rs886044517
|
|
NM_015295.3(SMCHD1):c.2701-8dup
|
rs886044517
|
|
NM_015295.3(SMCHD1):c.2710C>A (p.Leu904Met)
|
|
|
NM_015295.3(SMCHD1):c.2728G>A (p.Gly910Ser)
|
|
|
NM_015295.3(SMCHD1):c.2732T>G (p.Leu911Ter)
|
rs2143438994
|
|
NM_015295.3(SMCHD1):c.2743T>C (p.Ser915Pro)
|
|
|
NM_015295.3(SMCHD1):c.2750T>A (p.Ile917Asn)
|
|
|
NM_015295.3(SMCHD1):c.2767C>T (p.Leu923=)
|
|
|
NM_015295.3(SMCHD1):c.2769A>G (p.Leu923=)
|
|
|
NM_015295.3(SMCHD1):c.2772_2773+2dup
|
|
|
NM_015295.3(SMCHD1):c.2773+10T>C
|
|
|
NM_015295.3(SMCHD1):c.2773+16G>C
|
|
|
NM_015295.3(SMCHD1):c.2773+9A>G
|
|
|
NM_015295.3(SMCHD1):c.2774-16T>C
|
|
|
NM_015295.3(SMCHD1):c.2775T>G (p.Gly925=)
|
rs754336396
|
|
NM_015295.3(SMCHD1):c.2776C>T (p.His926Tyr)
|
|
|
NM_015295.3(SMCHD1):c.2782C>T (p.Arg928Cys)
|
|
|
NM_015295.3(SMCHD1):c.2786G>A (p.Arg929Gln)
|
|
|
NM_015295.3(SMCHD1):c.2787A>G (p.Arg929=)
|
|
|
NM_015295.3(SMCHD1):c.2790G>A (p.Leu930=)
|
rs2075068076
|
|
NM_015295.3(SMCHD1):c.27T>C (p.Pro9=)
|
|
|
NM_015295.3(SMCHD1):c.2818G>A (p.Val940Ile)
|
rs779974698
|
|
NM_015295.3(SMCHD1):c.2822T>C (p.Ile941Thr)
|
|
|
NM_015295.3(SMCHD1):c.2823A>G (p.Ile941Met)
|
rs2075068734
|
|
NM_015295.3(SMCHD1):c.2835A>T (p.Thr945=)
|
|
|
NM_015295.3(SMCHD1):c.2841C>T (p.Phe947=)
|
|
|
NM_015295.3(SMCHD1):c.2860T>C (p.Leu954=)
|
|
|
NM_015295.3(SMCHD1):c.2860T>G (p.Leu954Val)
|
|
|
NM_015295.3(SMCHD1):c.2861T>C (p.Leu954Ser)
|
|
|
NM_015295.3(SMCHD1):c.2871A>G (p.Ser957=)
|
|
|
NM_015295.3(SMCHD1):c.2874C>A (p.Asp958Glu)
|
|
|
NM_015295.3(SMCHD1):c.2877_2878inv (p.Ile960Val)
|
|
|
NM_015295.3(SMCHD1):c.2881A>G (p.Thr961Ala)
|
|
|
NM_015295.3(SMCHD1):c.288C>G (p.Thr96=)
|
rs369550628
|
|
NM_015295.3(SMCHD1):c.2896T>C (p.Leu966=)
|
|
|
NM_015295.3(SMCHD1):c.2913+157_2913+158del
|
rs67636305
|
|
NM_015295.3(SMCHD1):c.2913+158del
|
rs67636305
|
|
NM_015295.3(SMCHD1):c.2914-11C>T
|
rs1339481816
|
|
NM_015295.3(SMCHD1):c.2914-311dup
|
rs370623037
|
|
NM_015295.3(SMCHD1):c.2914-312_2914-311dup
|
rs370623037
|
|
NM_015295.3(SMCHD1):c.2914-8T>C
|
rs886043095
|
|
NM_015295.3(SMCHD1):c.2926C>T (p.Pro976Ser)
|
|
|
NM_015295.3(SMCHD1):c.292T>A (p.Tyr98Asn)
|
|
|
NM_015295.3(SMCHD1):c.2934T>G (p.Leu978=)
|
|
|
NM_015295.3(SMCHD1):c.2938G>A (p.Val980Ile)
|
rs755786183
|
|
NM_015295.3(SMCHD1):c.2942A>G (p.Tyr981Cys)
|
|
|
NM_015295.3(SMCHD1):c.2953T>G (p.Cys985Gly)
|
|
|
NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro)
|
rs1598284093
|
|
NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn)
|
rs2075090484
|
|
NM_015295.3(SMCHD1):c.2980A>T (p.Thr994Ser)
|
|
|
NM_015295.3(SMCHD1):c.2981C>G (p.Thr994Arg)
|
|
|
NM_015295.3(SMCHD1):c.2982A>C (p.Thr994=)
|
rs1435103613
|
|
NM_015295.3(SMCHD1):c.29G>T (p.Gly10Val)
|
rs920894669
|
|
NM_015295.3(SMCHD1):c.2T>G (p.Met1Arg)
|
rs1555622203
|
|
NM_015295.3(SMCHD1):c.3019C>T (p.Gln1007Ter)
|
|
|
NM_015295.3(SMCHD1):c.301C>A (p.Gln101Lys)
|
rs2073456934
|
|
NM_015295.3(SMCHD1):c.3024G>T (p.Thr1008=)
|
rs781311866
|
|
NM_015295.3(SMCHD1):c.302A>G (p.Gln101Arg)
|
|
|
NM_015295.3(SMCHD1):c.3030A>G (p.Lys1010=)
|
|
|
NM_015295.3(SMCHD1):c.3033A>C (p.Ala1011=)
|
|
|
NM_015295.3(SMCHD1):c.3033A>T (p.Ala1011=)
|
rs2075091813
|
|
NM_015295.3(SMCHD1):c.3035G>A (p.Arg1012Lys)
|
|
|
NM_015295.3(SMCHD1):c.3035G>T (p.Arg1012Ile)
|
|
|
NM_015295.3(SMCHD1):c.3048+17A>G
|
|
|
NM_015295.3(SMCHD1):c.3048+19del
|
|
|
NM_015295.3(SMCHD1):c.3048+298C>T
|
rs66771342
|
|
NM_015295.3(SMCHD1):c.3048+312_3048+314dup
|
rs72203094
|
|
NM_015295.3(SMCHD1):c.3048+314del
|
rs72203094
|
|
NM_015295.3(SMCHD1):c.3048+3A>G
|
|
|
NM_015295.3(SMCHD1):c.3049-10C>T
|
|
|
NM_015295.3(SMCHD1):c.3049-13C>T
|
|
|
NM_015295.3(SMCHD1):c.3049-2A>G
|
rs2143484371
|
|
NM_015295.3(SMCHD1):c.3053G>T (p.Cys1018Phe)
|
|
|
NM_015295.3(SMCHD1):c.3058G>T (p.Asp1020Tyr)
|
|
|
NM_015295.3(SMCHD1):c.3059A>T (p.Asp1020Val)
|
rs998650409
|
|
NM_015295.3(SMCHD1):c.3067C>T (p.Pro1023Ser)
|
|
|
NM_015295.3(SMCHD1):c.3085A>C (p.Lys1029Gln)
|
|
|
NM_015295.3(SMCHD1):c.3094C>G (p.Pro1032Ala)
|
|
|
NM_015295.3(SMCHD1):c.3097A>G (p.Ser1033Gly)
|
rs1598380521
|
|
NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)
|
|
|
NM_015295.3(SMCHD1):c.3125T>A (p.Phe1042Tyr)
|
|
|
NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe)
|
rs1568260824
|
|
NM_015295.3(SMCHD1):c.3182T>A (p.Ile1061Lys)
|
rs764839018
|
|
NM_015295.3(SMCHD1):c.3185C>T (p.Ala1062Val)
|
|
|
NM_015295.3(SMCHD1):c.3186G>A (p.Ala1062=)
|
|
|
NM_015295.3(SMCHD1):c.318A>G (p.Leu106=)
|
rs2143805753
|
|
NM_015295.3(SMCHD1):c.3197del (p.Met1066fs)
|
rs1568261067
|
|
NM_015295.3(SMCHD1):c.319C>T (p.Leu107=)
|
rs769766392
|
|
NM_015295.3(SMCHD1):c.3200A>G (p.His1067Arg)
|
|
|
NM_015295.3(SMCHD1):c.320T>C (p.Leu107Pro)
|
rs1135402737
|
|
NM_015295.3(SMCHD1):c.3219G>A (p.Met1073Ile)
|
|
|
NM_015295.3(SMCHD1):c.3223G>A (p.Asp1075Asn)
|
|
|
NM_015295.3(SMCHD1):c.3234_3235del (p.Glu1080fs)
|
rs2075160048
|
|
NM_015295.3(SMCHD1):c.3238_3239del (p.Glu1080fs)
|
rs886043182
|
|
NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val)
|
|
|
NM_015295.3(SMCHD1):c.3252A>C (p.Thr1084=)
|
|
|
NM_015295.3(SMCHD1):c.3256G>A (p.Ala1086Thr)
|
|
|
NM_015295.3(SMCHD1):c.3271_3276del (p.Ile1091_Lys1092del)
|
rs2075161238
|
|
NM_015295.3(SMCHD1):c.3272_3275del (p.Ile1091fs)
|
rs2075161300
|
|
NM_015295.3(SMCHD1):c.3274_3276+1del
|
rs2075161459
|
|
NM_015295.3(SMCHD1):c.3276+177A>T
|
rs62084258
|
|
NM_015295.3(SMCHD1):c.3276+20T>G
|
|
|
NM_015295.3(SMCHD1):c.3276+4_3276+7del
|
rs2075161499
|
|
NM_015295.3(SMCHD1):c.3276_3276+4del
|
rs1555642277
|
|
NM_015295.3(SMCHD1):c.3277-11T>C
|
|
|
NM_015295.3(SMCHD1):c.3277-283C>T
|
rs11080986
|
|
NM_015295.3(SMCHD1):c.3283T>G (p.Trp1095Gly)
|
|
|
NM_015295.3(SMCHD1):c.3286A>G (p.Thr1096Ala)
|
|
|
NM_015295.3(SMCHD1):c.3297T>C (p.Ile1099=)
|
|
|
NM_015295.3(SMCHD1):c.3307C>T (p.His1103Tyr)
|
|
|
NM_015295.3(SMCHD1):c.3316C>G (p.Gln1106Glu)
|
|
|
NM_015295.3(SMCHD1):c.331A>G (p.Thr111Ala)
|
rs2143805894
|
|
NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro)
|
rs2143530610
|
|
NM_015295.3(SMCHD1):c.332C>T (p.Thr111Met)
|
|
|
NM_015295.3(SMCHD1):c.3339A>G (p.Gln1113=)
|
rs2075291026
|
|
NM_015295.3(SMCHD1):c.3349T>G (p.Ser1117Ala)
|
|
|
NM_015295.3(SMCHD1):c.3350C>T (p.Ser1117Phe)
|
|
|
NM_015295.3(SMCHD1):c.3365G>A (p.Arg1122His)
|
|
|
NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=)
|
rs747331582
|
|
NM_015295.3(SMCHD1):c.3393T>C (p.Asp1131=)
|
|
|
NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter)
|
rs2143805963
|
|
NM_015295.3(SMCHD1):c.3410G>A (p.Ser1137Asn)
|
|
|
NM_015295.3(SMCHD1):c.3413C>T (p.Ala1138Val)
|
|
|
NM_015295.3(SMCHD1):c.3414G>T (p.Ala1138=)
|
|
|
NM_015295.3(SMCHD1):c.341G>A (p.Arg114Gln)
|
|
|
NM_015295.3(SMCHD1):c.3425+10C>A
|
rs1555644115
|
|
NM_015295.3(SMCHD1):c.3425+15_3425+17del
|
|
|
NM_015295.3(SMCHD1):c.3425+16A>G
|
|
|
NM_015295.3(SMCHD1):c.3425+19T>A
|
|
|
NM_015295.3(SMCHD1):c.3425+5G>C
|
rs2075292456
|
|
NM_015295.3(SMCHD1):c.3426-5T>G
|
|
|
NM_015295.3(SMCHD1):c.3434del (p.Pro1145fs)
|
rs2075307655
|
|
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
|
rs76290319
|
|
NM_015295.3(SMCHD1):c.3451T>C (p.Leu1151=)
|
rs759659672
|
|
NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter)
|
rs2075308386
|
|
NM_015295.3(SMCHD1):c.3479C>T (p.Thr1160Ile)
|
rs2075308543
|
|
NM_015295.3(SMCHD1):c.3484C>T (p.Gln1162Ter)
|
rs1555644339
|
|
NM_015295.3(SMCHD1):c.3490G>A (p.Gly1164Ser)
|
rs2143538437
|
|
NM_015295.3(SMCHD1):c.3491G>A (p.Gly1164Asp)
|
|
|
NM_015295.3(SMCHD1):c.34G>A (p.Ala12Thr)
|
|
|
NM_015295.3(SMCHD1):c.3514+10G>T
|
rs2075309207
|
|
NM_015295.3(SMCHD1):c.3514+20A>C
|
|
|
NM_015295.3(SMCHD1):c.3514+7A>G
|
rs886044081
|
|
NM_015295.3(SMCHD1):c.3515-13C>T
|
|
|
NM_015295.3(SMCHD1):c.3515-15T>G
|
|
|
NM_015295.3(SMCHD1):c.3515-5T>C
|
|
|
NM_015295.3(SMCHD1):c.3522A>T (p.Ile1174=)
|
|
|
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
|
|
|
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)
|
rs1568280995
|
|
NM_015295.3(SMCHD1):c.3538G>A (p.Gly1180Arg)
|
|
|
NM_015295.3(SMCHD1):c.353T>C (p.Leu118Ser)
|
|
|
NM_015295.3(SMCHD1):c.3548T>C (p.Ile1183Thr)
|
rs1469819950
|
|
NM_015295.3(SMCHD1):c.3549T>G (p.Ile1183Met)
|
|
|
NM_015295.3(SMCHD1):c.3563C>G (p.Pro1188Arg)
|
rs1598391266
|
|
NM_015295.3(SMCHD1):c.3565A>G (p.Ser1189Gly)
|
|
|
NM_015295.3(SMCHD1):c.3574T>C (p.Ser1192Pro)
|
|
|
NM_015295.3(SMCHD1):c.3575C>T (p.Ser1192Phe)
|
|
|
NM_015295.3(SMCHD1):c.3583_3584delinsCA (p.Ser1195Gln)
|
rs2143547958
|
|
NM_015295.3(SMCHD1):c.3592G>A (p.Gly1198Arg)
|
rs2143548034
|
|
NM_015295.3(SMCHD1):c.35_45dup (p.Thr16fs)
|
|
|
NM_015295.3(SMCHD1):c.3600A>G (p.Gly1200=)
|
|
|
NM_015295.3(SMCHD1):c.3607A>G (p.Ser1203Gly)
|
|
|
NM_015295.3(SMCHD1):c.3608G>C (p.Ser1203Thr)
|
rs2143548195
|
|
NM_015295.3(SMCHD1):c.3609C>G (p.Ser1203Arg)
|
rs2143548226
|
|
NM_015295.3(SMCHD1):c.3610T>C (p.Ser1204Pro)
|
|
|
NM_015295.3(SMCHD1):c.3619A>G (p.Lys1207Glu)
|
|
|
NM_015295.3(SMCHD1):c.3620A>G (p.Lys1207Arg)
|
rs1249504713
|
|
NM_015295.3(SMCHD1):c.3625A>G (p.Thr1209Ala)
|
rs745810454
|
|
NM_015295.3(SMCHD1):c.3633+10C>G
|
|
|
NM_015295.3(SMCHD1):c.3633+10_3633+16del
|
rs1555644751
|
|
NM_015295.3(SMCHD1):c.3634-10dup
|
rs763101269
|
|
NM_015295.3(SMCHD1):c.3634-1G>C
|
rs886042282
|
|
NM_015295.3(SMCHD1):c.3634-20A>G
|
|
|
NM_015295.3(SMCHD1):c.3634-35C>T
|
rs59023685
|
|
NM_015295.3(SMCHD1):c.3641C>A (p.Thr1214Lys)
|
|
|
NM_015295.3(SMCHD1):c.3645_3646delinsTT (p.Gln1215_Ser1216delinsHisCys)
|
rs2143569473
|
|
NM_015295.3(SMCHD1):c.3659G>A (p.Arg1220Lys)
|
|
|
NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs)
|
rs2075396572
|
|
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)
|
rs1204021010
|
|
NM_015295.3(SMCHD1):c.3698A>G (p.Asp1233Gly)
|
|
|
NM_015295.3(SMCHD1):c.369A>G (p.Thr123=)
|
|
|
NM_015295.3(SMCHD1):c.3700C>G (p.Leu1234Val)
|
rs1214211314
|
|
NM_015295.3(SMCHD1):c.3708T>C (p.Phe1236=)
|
|
|
NM_015295.3(SMCHD1):c.3715C>T (p.Arg1239Cys)
|
rs771294371
|
|
NM_015295.3(SMCHD1):c.3718G>C (p.Glu1240Gln)
|
rs886044366
|
|
NM_015295.3(SMCHD1):c.3730T>C (p.Phe1244Leu)
|
|
|
NM_015295.3(SMCHD1):c.3736C>T (p.Arg1246Ter)
|
rs924153704
|
|
NM_015295.3(SMCHD1):c.3760C>T (p.Pro1254Ser)
|
|
|
NM_015295.3(SMCHD1):c.3763G>T (p.Ala1255Ser)
|
|
|
NM_015295.3(SMCHD1):c.3769C>G (p.Leu1257Val)
|
|
|
NM_015295.3(SMCHD1):c.3772_3773insA (p.Leu1258fs)
|
rs2143570702
|
|
NM_015295.3(SMCHD1):c.3774C>T (p.Leu1258=)
|
rs1598395228
|
|
NM_015295.3(SMCHD1):c.3774_3776del (p.Leu1259del)
|
rs766432458
|
|
NM_015295.3(SMCHD1):c.3784_3788del (p.Trp1262fs)
|
|
|
NM_015295.3(SMCHD1):c.3786G>A (p.Trp1262Ter)
|
|
|
NM_015295.3(SMCHD1):c.3787C>T (p.Pro1263Ser)
|
|
|
NM_015295.3(SMCHD1):c.3788C>T (p.Pro1263Leu)
|
rs2143570854
|
|
NM_015295.3(SMCHD1):c.3794T>C (p.Leu1265Pro)
|
|
|
NM_015295.3(SMCHD1):c.3801+1G>A
|
rs886042417
|
|
NM_015295.3(SMCHD1):c.3801+2T>C
|
|
|
NM_015295.3(SMCHD1):c.3801+9C>T
|
|
|
NM_015295.3(SMCHD1):c.3802-13C>T
|
rs1296305929
|
|
NM_015295.3(SMCHD1):c.3802-19A>G
|
|
|
NM_015295.3(SMCHD1):c.3802-4del
|
rs1568298152
|
|
NM_015295.3(SMCHD1):c.3803C>T (p.Ser1268Phe)
|
|
|
NM_015295.3(SMCHD1):c.3804C>T (p.Ser1268=)
|
rs1598399244
|
|
NM_015295.3(SMCHD1):c.3805A>C (p.Ile1269Leu)
|
rs2075478758
|
|
NM_015295.3(SMCHD1):c.3831A>G (p.Leu1277=)
|
rs2075479218
|
|
NM_015295.3(SMCHD1):c.3838C>A (p.Pro1280Thr)
|
rs1322896954
|
|
NM_015295.3(SMCHD1):c.3847G>A (p.Val1283Ile)
|
|
|
NM_015295.3(SMCHD1):c.3852A>G (p.Gln1284=)
|
|
|
NM_015295.3(SMCHD1):c.3854T>C (p.Leu1285Pro)
|
|
|
NM_015295.3(SMCHD1):c.3856T>C (p.Cys1286Arg)
|
|
|
NM_015295.3(SMCHD1):c.385A>G (p.Met129Val)
|
|
|
NM_015295.3(SMCHD1):c.3862C>G (p.Gln1288Glu)
|
|
|
NM_015295.3(SMCHD1):c.386T>A (p.Met129Lys)
|
rs1135402738
|
|
NM_015295.3(SMCHD1):c.3881C>A (p.Pro1294Gln)
|
|
|
NM_015295.3(SMCHD1):c.3882G>A (p.Pro1294=)
|
|
|
NM_015295.3(SMCHD1):c.3891T>A (p.His1297Gln)
|
rs758075470
|
|
NM_015295.3(SMCHD1):c.38C>T (p.Ser13Phe)
|
|
|
NM_015295.3(SMCHD1):c.3908C>A (p.Thr1303Lys)
|
|
|
NM_015295.3(SMCHD1):c.3908C>G (p.Thr1303Arg)
|
|
|
NM_015295.3(SMCHD1):c.3927+16C>T
|
rs1238138673
|
|
NM_015295.3(SMCHD1):c.3927+2dup
|
rs2075481193
|
|
NM_015295.3(SMCHD1):c.3928-23_3928-19del
|
|
|
NM_015295.3(SMCHD1):c.3931A>G (p.Met1311Val)
|
|
|
NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)
|
|
|
NM_015295.3(SMCHD1):c.3948G>T (p.Gln1316His)
|
|
|
NM_015295.3(SMCHD1):c.3950A>C (p.His1317Pro)
|
rs2143616515
|
|
NM_015295.3(SMCHD1):c.3971G>A (p.Arg1324Lys)
|
rs1555647170
|
|
NM_015295.3(SMCHD1):c.3972G>T (p.Arg1324Ser)
|
|
|
NM_015295.3(SMCHD1):c.3973G>A (p.Ala1325Thr)
|
rs2075542752
|
|
NM_015295.3(SMCHD1):c.4004C>T (p.Pro1335Leu)
|
|
|
NM_015295.3(SMCHD1):c.4007+13A>G
|
|
|
NM_015295.3(SMCHD1):c.4007+19A>G
|
|
|
NM_015295.3(SMCHD1):c.4007+1G>A
|
rs2143616842
|
|
NM_015295.3(SMCHD1):c.4007+63G>A
|
|
|
NM_015295.3(SMCHD1):c.4008-7_4008-3del
|
rs760383946
|
|
NM_015295.3(SMCHD1):c.4008-7_4008-6del
|
|
|
NM_015295.3(SMCHD1):c.4017T>G (p.His1339Gln)
|
rs2143618467
|
|
NM_015295.3(SMCHD1):c.4018A>G (p.Thr1340Ala)
|
|
|
NM_015295.3(SMCHD1):c.4025A>G (p.Gln1342Arg)
|
rs775109874
|
|
NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys)
|
rs1057519645
|
|
NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn)
|
rs1057519646
|
|
NM_015295.3(SMCHD1):c.404G>T (p.Ser135Ile)
|
rs1057519646
|
|
NM_015295.3(SMCHD1):c.4079T>C (p.Met1360Thr)
|
|
|
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)
|
rs1057519643
|
|
NM_015295.3(SMCHD1):c.408A>G (p.Glu136=)
|
rs1057519643
|
|
NM_015295.3(SMCHD1):c.4097A>G (p.Glu1366Gly)
|
|
|
NM_015295.3(SMCHD1):c.4100A>G (p.Lys1367Arg)
|
rs2143618974
|
|
NM_015295.3(SMCHD1):c.4101A>C (p.Lys1367Asn)
|
|
|
NM_015295.3(SMCHD1):c.4104del (p.Val1369fs)
|
rs1555647265
|
|
NM_015295.3(SMCHD1):c.4108C>G (p.Arg1370Gly)
|
rs942559171
|
|
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)
|
rs1057519644
|
|
NM_015295.3(SMCHD1):c.4115A>C (p.Asn1372Thr)
|
rs538621932
|
|
NM_015295.3(SMCHD1):c.4117G>T (p.Val1373Phe)
|
|
|
NM_015295.3(SMCHD1):c.4126G>A (p.Asp1376Asn)
|
|
|
NM_015295.3(SMCHD1):c.4130A>G (p.Lys1377Arg)
|
|
|
NM_015295.3(SMCHD1):c.4133A>G (p.Asp1378Gly)
|
|
|
NM_015295.3(SMCHD1):c.4135_4137delinsACG (p.Ala1379Thr)
|
rs1568306321
|
|
NM_015295.3(SMCHD1):c.4136_4137inv (p.Ala1379Val)
|
|
|
NM_015295.3(SMCHD1):c.4153G>A (p.Gly1385Ser)
|
rs774329481
|
|
NM_015295.3(SMCHD1):c.4153G>T (p.Gly1385Cys)
|
rs774329481
|
|
NM_015295.3(SMCHD1):c.4154G>T (p.Gly1385Val)
|
|
|
NM_015295.3(SMCHD1):c.4156C>G (p.Leu1386Val)
|
|
|
NM_015295.3(SMCHD1):c.415A>C (p.Asn139His)
|
rs1135402739
|
|
NM_015295.3(SMCHD1):c.4162A>G (p.Thr1388Ala)
|
|
|
NM_015295.3(SMCHD1):c.4165+149G>A
|
|
|
NM_015295.3(SMCHD1):c.4165+17C>A
|
|
|
NM_015295.3(SMCHD1):c.4165+301C>T
|
rs62077668
|
|
NM_015295.3(SMCHD1):c.4165+3G>A
|
|
|
NM_015295.3(SMCHD1):c.4166-14G>A
|
|
|
NM_015295.3(SMCHD1):c.4166-15C>T
|
rs753246346
|
|
NM_015295.3(SMCHD1):c.4166-1G>T
|
rs886042327
|
|
NM_015295.3(SMCHD1):c.4197C>G (p.Asp1399Glu)
|
|
|
NM_015295.3(SMCHD1):c.4201A>G (p.Ile1401Val)
|
rs1463980636
|
|
NM_015295.3(SMCHD1):c.4205T>A (p.Ile1402Asn)
|
|
|
NM_015295.3(SMCHD1):c.420T>G (p.Pro140=)
|
rs2143806315
|
|
NM_015295.3(SMCHD1):c.4210A>G (p.Asn1404Asp)
|
|
|
NM_015295.3(SMCHD1):c.4218T>C (p.Asn1406=)
|
|
|
NM_015295.3(SMCHD1):c.4231dup (p.Ser1411fs)
|
rs2075566961
|
|
NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe)
|
rs1057519641
|
|
NM_015295.3(SMCHD1):c.423G>T (p.Leu141Phe)
|
rs1057519641
|
|
NM_015295.3(SMCHD1):c.424+11C>T
|
|
|
NM_015295.3(SMCHD1):c.424+12A>G
|
|
|
NM_015295.3(SMCHD1):c.424+16A>G
|
|
|
NM_015295.3(SMCHD1):c.424+18A>G
|
|
|
NM_015295.3(SMCHD1):c.424+1G>A
|
rs1555625396
|
|
NM_015295.3(SMCHD1):c.425-7C>T
|
rs1182600898
|
|
NM_015295.3(SMCHD1):c.4252T>G (p.Ser1418Ala)
|
|
|
NM_015295.3(SMCHD1):c.4254T>G (p.Ser1418=)
|
|
|
NM_015295.3(SMCHD1):c.4266C>G (p.Asn1422Lys)
|
|
|
NM_015295.3(SMCHD1):c.4267C>T (p.Arg1423Ter)
|
|
|
NM_015295.3(SMCHD1):c.4281+10G>A
|
|
|
NM_015295.3(SMCHD1):c.4281+14A>C
|
rs753497494
|
|
NM_015295.3(SMCHD1):c.4281+17A>G
|
rs1177961257
|
|
NM_015295.3(SMCHD1):c.4281+246T>C
|
rs7237908
|
|
NM_015295.3(SMCHD1):c.4282-5dup
|
rs752013568
|
|
NM_015295.3(SMCHD1):c.4282-8C>G
|
|
|
NM_015295.3(SMCHD1):c.4282G>A (p.Ala1428Thr)
|
|
|
NM_015295.3(SMCHD1):c.4314T>A (p.Asp1438Glu)
|
rs1011114157
|
|
NM_015295.3(SMCHD1):c.4314T>G (p.Asp1438Glu)
|
rs1011114157
|
|
NM_015295.3(SMCHD1):c.432T>A (p.Ala144=)
|
rs1017630458
|
|
NM_015295.3(SMCHD1):c.4338C>A (p.Phe1446Leu)
|
|
|
NM_015295.3(SMCHD1):c.433C>G (p.Leu145Val)
|
|
|
NM_015295.3(SMCHD1):c.4346+14C>T
|
|
|
NM_015295.3(SMCHD1):c.4346+1G>T
|
rs2143632512
|
|
NM_015295.3(SMCHD1):c.4347-19_4347-15del
|
rs2143682631
|
|
NM_015295.3(SMCHD1):c.434T>C (p.Leu145Pro)
|
|
|
NM_015295.3(SMCHD1):c.4368A>T (p.Lys1456Asn)
|
|
|
NM_015295.3(SMCHD1):c.437C>G (p.Ala146Gly)
|
rs886043899
|
|
NM_015295.3(SMCHD1):c.438G>A (p.Ala146=)
|
|
|
NM_015295.3(SMCHD1):c.4393G>T (p.Gly1465Cys)
|
|
|
NM_015295.3(SMCHD1):c.43G>T (p.Gly15Trp)
|
|
|
NM_015295.3(SMCHD1):c.4412C>G (p.Thr1471Arg)
|
|
|
NM_015295.3(SMCHD1):c.441A>G (p.Glu147=)
|
|
|
NM_015295.3(SMCHD1):c.4428T>A (p.Ser1476Arg)
|
|
|
NM_015295.3(SMCHD1):c.4434+14T>G
|
rs1422686702
|
|
NM_015295.3(SMCHD1):c.4434+15T>G
|
|
|
NM_015295.3(SMCHD1):c.4434+16T>C
|
|
|
NM_015295.3(SMCHD1):c.4434+17del
|
rs781729128
|
|
NM_015295.3(SMCHD1):c.4434+17dup
|
|
|
NM_015295.3(SMCHD1):c.4434+9A>G
|
|
|
NM_015295.3(SMCHD1):c.4435-15C>A
|
|
|
NM_015295.3(SMCHD1):c.4435-5G>A
|
|
|
NM_015295.3(SMCHD1):c.4441G>A (p.Val1481Ile)
|
rs1598416020
|
|
NM_015295.3(SMCHD1):c.4443T>C (p.Val1481=)
|
rs369643056
|
|
NM_015295.3(SMCHD1):c.444_447del (p.Ile149fs)
|
|
|
NM_015295.3(SMCHD1):c.4452G>A (p.Leu1484=)
|
|
|
NM_015295.3(SMCHD1):c.4459C>T (p.Gln1487Ter)
|
rs1329504858
|
|
NM_015295.3(SMCHD1):c.445A>C (p.Ile149Leu)
|
rs2143841667
|
|
NM_015295.3(SMCHD1):c.4469A>G (p.Lys1490Arg)
|
|
|
NM_015295.3(SMCHD1):c.4470G>A (p.Lys1490=)
|
|
|
NM_015295.3(SMCHD1):c.4474G>C (p.Val1492Leu)
|
|
|
NM_015295.3(SMCHD1):c.4492C>T (p.Pro1498Ser)
|
rs767117563
|
|
NM_015295.3(SMCHD1):c.4494T>C (p.Pro1498=)
|
|
|
NM_015295.3(SMCHD1):c.4504G>A (p.Val1502Ile)
|
|
|
NM_015295.3(SMCHD1):c.4524T>A (p.Val1508=)
|
|
|
NM_015295.3(SMCHD1):c.4547A>T (p.Asp1516Val)
|
|
|
NM_015295.3(SMCHD1):c.4558A>T (p.Ser1520Cys)
|
rs1793822504
|
|
NM_015295.3(SMCHD1):c.4566+11T>C
|
|
|
NM_015295.3(SMCHD1):c.4566+20A>G
|
|
|
NM_015295.3(SMCHD1):c.4566+275del
|
rs10708453
|
|
NM_015295.3(SMCHD1):c.4566+275dup
|
rs10708453
|
|
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)
|
rs1598416221
|
|
NM_015295.3(SMCHD1):c.4567-85G>C
|
rs112622633
|
|
NM_015295.3(SMCHD1):c.4567-9dup
|
rs772038791
|
|
NM_015295.3(SMCHD1):c.4577A>G (p.Asp1526Gly)
|
|
|
NM_015295.3(SMCHD1):c.4583A>G (p.His1528Arg)
|
|
|
NM_015295.3(SMCHD1):c.4585A>G (p.Thr1529Ala)
|
|
|
NM_015295.3(SMCHD1):c.4592T>C (p.Ile1531Thr)
|
|
|
NM_015295.3(SMCHD1):c.4601T>C (p.Val1534Ala)
|
rs1555650440
|
|
NM_015295.3(SMCHD1):c.4633A>G (p.Asn1545Asp)
|
rs886044429
|
|
NM_015295.3(SMCHD1):c.4634A>T (p.Asn1545Ile)
|
rs776704924
|
|
NM_015295.3(SMCHD1):c.4638G>A (p.Glu1546=)
|
rs1568336400
|
|
NM_015295.3(SMCHD1):c.4652C>A (p.Thr1551Asn)
|
rs764313867
|
|
NM_015295.3(SMCHD1):c.4652C>T (p.Thr1551Ile)
|
|
|
NM_015295.3(SMCHD1):c.4664T>C (p.Ile1555Thr)
|
|
|
NM_015295.3(SMCHD1):c.4680A>G (p.Thr1560=)
|
|
|
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=)
|
rs757300247
|
|
NM_015295.3(SMCHD1):c.4696G>T (p.Val1566Leu)
|
|
|
NM_015295.3(SMCHD1):c.4702G>C (p.Gly1568Arg)
|
rs2143700148
|
|
NM_015295.3(SMCHD1):c.4706C>T (p.Ser1569Leu)
|
|
|
NM_015295.3(SMCHD1):c.4707G>A (p.Ser1569=)
|
|
|
NM_015295.3(SMCHD1):c.4717A>C (p.Met1573Leu)
|
|
|
NM_015295.3(SMCHD1):c.4717A>G (p.Met1573Val)
|
rs1428214885
|
|
NM_015295.3(SMCHD1):c.4718T>C (p.Met1573Thr)
|
|
|
NM_015295.3(SMCHD1):c.4719+14A>G
|
|
|
NM_015295.3(SMCHD1):c.4719+16C>A
|
|
|
NM_015295.3(SMCHD1):c.4719+1G>A
|
rs886044369
|
|
NM_015295.3(SMCHD1):c.4719+1G>T
|
rs886044369
|
|
NM_015295.3(SMCHD1):c.4719+4A>T
|
|
|
NM_015295.3(SMCHD1):c.471T>C (p.Ser157=)
|
|
|
NM_015295.3(SMCHD1):c.4720-10A>G
|
|
|
NM_015295.3(SMCHD1):c.4733_4736dup (p.Glu1579fs)
|
rs1555651730
|
|
NM_015295.3(SMCHD1):c.4738A>G (p.Ser1580Gly)
|
rs886044485
|
|
NM_015295.3(SMCHD1):c.473G>C (p.Arg158Pro)
|
|
|
NM_015295.3(SMCHD1):c.4747G>A (p.Gly1583Arg)
|
|
|
NM_015295.3(SMCHD1):c.474T>G (p.Arg158=)
|
rs2143841810
|
|
NM_015295.3(SMCHD1):c.4755T>C (p.Asp1585=)
|
|
|
NM_015295.3(SMCHD1):c.4770T>C (p.Phe1590=)
|
|
|
NM_015295.3(SMCHD1):c.4773T>C (p.Ile1591=)
|
|
|
NM_015295.3(SMCHD1):c.4774G>T (p.Val1592Leu)
|
rs755339676
|
|
NM_015295.3(SMCHD1):c.4799T>C (p.Leu1600Ser)
|
|
|
NM_015295.3(SMCHD1):c.4799dup (p.Leu1600fs)
|
rs867598503
|
|
NM_015295.3(SMCHD1):c.47C>G (p.Thr16Ser)
|
|
|
NM_015295.3(SMCHD1):c.47C>T (p.Thr16Ile)
|
|
|
NM_015295.3(SMCHD1):c.4803A>G (p.Ser1601=)
|
rs1568350613
|
|
NM_015295.3(SMCHD1):c.4810T>G (p.Leu1604Val)
|
rs1371894096
|
|
NM_015295.3(SMCHD1):c.4821dup (p.Ile1608fs)
|
rs1568350731
|
|
NM_015295.3(SMCHD1):c.4822A>G (p.Ile1608Val)
|
|
|
NM_015295.3(SMCHD1):c.4823T>G (p.Ile1608Ser)
|
rs2075942900
|
|
NM_015295.3(SMCHD1):c.4825C>A (p.Leu1609Ile)
|
rs2075943009
|
|
NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=)
|
rs774077792
|
|
NM_015295.3(SMCHD1):c.4828C>A (p.Pro1610Thr)
|
|
|
NM_015295.3(SMCHD1):c.4830G>A (p.Pro1610=)
|
|
|
NM_015295.3(SMCHD1):c.4834A>T (p.Met1612Leu)
|
rs370675357
|
|
NM_015295.3(SMCHD1):c.4846+11A>G
|
|
|
NM_015295.3(SMCHD1):c.4846+15A>G
|
|
|
NM_015295.3(SMCHD1):c.4846+20A>G
|
|
|
NM_015295.3(SMCHD1):c.4847-1G>T
|
|
|
NM_015295.3(SMCHD1):c.4847-6del
|
rs763328487
|
|
NM_015295.3(SMCHD1):c.4847-6dup
|
rs763328487
|
|
NM_015295.3(SMCHD1):c.4849G>A (p.Val1617Ile)
|
|
|
NM_015295.3(SMCHD1):c.484G>A (p.Val162Ile)
|
|
|
NM_015295.3(SMCHD1):c.4863A>G (p.Gln1621=)
|
|
|
NM_015295.3(SMCHD1):c.4879dup (p.Thr1627fs)
|
rs886044257
|
|
NM_015295.3(SMCHD1):c.4880C>A (p.Thr1627Lys)
|
rs2075948990
|
|
NM_015295.3(SMCHD1):c.488GAA[1] (p.Arg164del)
|
rs1598293848
|
|
NM_015295.3(SMCHD1):c.4898T>G (p.Leu1633Ter)
|
rs886044419
|
|
NM_015295.3(SMCHD1):c.4909A>G (p.Ile1637Val)
|
|
|
NM_015295.3(SMCHD1):c.4915A>G (p.Met1639Val)
|
rs1555651856
|
|
NM_015295.3(SMCHD1):c.4924A>T (p.Ser1642Cys)
|
rs765796991
|
|
NM_015295.3(SMCHD1):c.4945C>G (p.Gln1649Glu)
|
rs1855678942
|
|
NM_015295.3(SMCHD1):c.4947G>A (p.Gln1649=)
|
rs2075950490
|
|
NM_015295.3(SMCHD1):c.4950T>G (p.Leu1650=)
|
rs201477496
|
|
NM_015295.3(SMCHD1):c.4956T>G (p.Asn1652Lys)
|
|
|
NM_015295.3(SMCHD1):c.495A>G (p.Ile165Met)
|
rs1555626822
|
|
NM_015295.3(SMCHD1):c.4966+3A>G
|
|
|
NM_015295.3(SMCHD1):c.4966+5G>A
|
rs1598426626
|
|
NM_015295.3(SMCHD1):c.4967-13T>G
|
rs753578196
|
|
NM_015295.3(SMCHD1):c.4967-17T>C
|
|
|
NM_015295.3(SMCHD1):c.4967-20T>C
|
|
|
NM_015295.3(SMCHD1):c.4967-8T>C
|
|
|
NM_015295.3(SMCHD1):c.499A>G (p.Ile167Val)
|
|
|
NM_015295.3(SMCHD1):c.5001A>G (p.Gln1667=)
|
rs777769712
|
|
NM_015295.3(SMCHD1):c.5002T>C (p.Leu1668=)
|
rs746740103
|
|
NM_015295.3(SMCHD1):c.5006G>T (p.Arg1669Leu)
|
rs368367743
|
|
NM_015295.3(SMCHD1):c.5020A>G (p.Ile1674Val)
|
|
|
NM_015295.3(SMCHD1):c.5020del (p.Ile1674fs)
|
rs886044129
|
|
NM_015295.3(SMCHD1):c.5022A>G (p.Ile1674Met)
|
|
|
NM_015295.3(SMCHD1):c.5035A>G (p.Ile1679Val)
|
|
|
NM_015295.3(SMCHD1):c.5038C>G (p.Pro1680Ala)
|
rs769986044
|
|
NM_015295.3(SMCHD1):c.5041A>G (p.Thr1681Ala)
|
|
|
NM_015295.3(SMCHD1):c.5042C>T (p.Thr1681Ile)
|
|
|
NM_015295.3(SMCHD1):c.5044A>G (p.Thr1682Ala)
|
rs2143748168
|
|
NM_015295.3(SMCHD1):c.5052+16A>G
|
|
|
NM_015295.3(SMCHD1):c.5052+19C>T
|
|
|
NM_015295.3(SMCHD1):c.5052+20G>T
|
rs762065052
|
|
NM_015295.3(SMCHD1):c.5052+2T>C
|
|
|
NM_015295.3(SMCHD1):c.5052+33dup
|
rs3214732
|
|
NM_015295.3(SMCHD1):c.5052+52A>G
|
|
|
NM_015295.3(SMCHD1):c.5053-10T>A
|
rs1598429596
|
|
NM_015295.3(SMCHD1):c.505T>C (p.Leu169=)
|
|
|
NM_015295.3(SMCHD1):c.5064T>G (p.Ile1688Met)
|
|
|
NM_015295.3(SMCHD1):c.507+16T>C
|
|
|
NM_015295.3(SMCHD1):c.507+17G>A
|
rs771404268
|
|
NM_015295.3(SMCHD1):c.5072T>G (p.Leu1691Arg)
|
rs886043181
|
|
NM_015295.3(SMCHD1):c.5079A>G (p.Lys1693=)
|
rs2143751963
|
|
NM_015295.3(SMCHD1):c.508-13T>C
|
|
|
NM_015295.3(SMCHD1):c.508-5C>T
|
|
|
NM_015295.3(SMCHD1):c.5081G>C (p.Arg1694Thr)
|
|
|
NM_015295.3(SMCHD1):c.5095C>G (p.Gln1699Glu)
|
|
|
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)
|
rs1135402740
|
|
NM_015295.3(SMCHD1):c.5124A>G (p.Arg1708=)
|
|
|
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=)
|
rs371834462
|
|
NM_015295.3(SMCHD1):c.5131A>G (p.Thr1711Ala)
|
|
|
NM_015295.3(SMCHD1):c.5142C>G (p.Asn1714Lys)
|
|
|
NM_015295.3(SMCHD1):c.5145_5146del (p.Tyr1715_Thr1716insTer)
|
|
|
NM_015295.3(SMCHD1):c.5150_5151del (p.Lys1717fs)
|
|
|
NM_015295.3(SMCHD1):c.5157T>A (p.Ser1719Arg)
|
|
|
NM_015295.3(SMCHD1):c.5162A>G (p.Asp1721Gly)
|
|
|
NM_015295.3(SMCHD1):c.5164G>A (p.Val1722Ile)
|
rs2075998748
|
|
NM_015295.3(SMCHD1):c.5175+11A>G
|
|
|
NM_015295.3(SMCHD1):c.5175+14A>G
|
|
|
NM_015295.3(SMCHD1):c.5175+22del
|
|
|
NM_015295.3(SMCHD1):c.5175G>T (p.Lys1725Asn)
|
rs763696893
|
|
NM_015295.3(SMCHD1):c.5176-16T>C
|
|
|
NM_015295.3(SMCHD1):c.5176-208del
|
rs35375743
|
|
NM_015295.3(SMCHD1):c.5176-20T>C
|
|
|
NM_015295.3(SMCHD1):c.5176-8G>A
|
rs2143771244
|
|
NM_015295.3(SMCHD1):c.51GGA[1] (p.Glu18del)
|
rs1294074624
|
|
NM_015295.3(SMCHD1):c.5202T>C (p.Asp1734=)
|
|
|
NM_015295.3(SMCHD1):c.5214G>A (p.Ala1738=)
|
|
|
NM_015295.3(SMCHD1):c.5235G>A (p.Leu1745=)
|
|
|
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=)
|
rs1172138387
|
|
NM_015295.3(SMCHD1):c.5262_5270del (p.Leu1755_Thr1757del)
|
rs2076057081
|
|
NM_015295.3(SMCHD1):c.5274C>G (p.Asp1758Glu)
|
rs377503335
|
|
NM_015295.3(SMCHD1):c.5279C>T (p.Ala1760Val)
|
|
|
NM_015295.3(SMCHD1):c.5284C>A (p.Arg1762Ser)
|
rs202006154
|
|
NM_015295.3(SMCHD1):c.5285G>A (p.Arg1762His)
|
|
|
NM_015295.3(SMCHD1):c.5286dup (p.Ile1763fs)
|
|
|
NM_015295.3(SMCHD1):c.5325C>T (p.Pro1775=)
|
rs2143771828
|
|
NM_015295.3(SMCHD1):c.5356G>A (p.Asp1786Asn)
|
rs373881061
|
|
NM_015295.3(SMCHD1):c.5358T>C (p.Asp1786=)
|
|
|
NM_015295.3(SMCHD1):c.5364A>G (p.Lys1788=)
|
rs2143772005
|
|
NM_015295.3(SMCHD1):c.5366+10A>G
|
|
|
NM_015295.3(SMCHD1):c.5366+4A>G
|
rs2143772026
|
|
NM_015295.3(SMCHD1):c.5367-10T>C
|
|
|
NM_015295.3(SMCHD1):c.5367-12C>T
|
|
|
NM_015295.3(SMCHD1):c.5367-14T>G
|
|
|
NM_015295.3(SMCHD1):c.5367-16A>G
|
|
|
NM_015295.3(SMCHD1):c.5367-7T>C
|
|
|
NM_015295.3(SMCHD1):c.5377C>T (p.His1793Tyr)
|
|
|
NM_015295.3(SMCHD1):c.5383C>T (p.Arg1795Ter)
|
rs867694014
|
|
NM_015295.3(SMCHD1):c.5384G>A (p.Arg1795Gln)
|
|
|
NM_015295.3(SMCHD1):c.5391A>C (p.Gly1797=)
|
rs2143783601
|
|
NM_015295.3(SMCHD1):c.5399A>G (p.Tyr1800Cys)
|
|
|
NM_015295.3(SMCHD1):c.5404A>C (p.Lys1802Gln)
|
|
|
NM_015295.3(SMCHD1):c.5409C>T (p.Pro1803=)
|
|
|
NM_015295.3(SMCHD1):c.5410A>T (p.Ile1804Phe)
|
|
|
NM_015295.3(SMCHD1):c.5416G>A (p.Asp1806Asn)
|
rs886044362
|
|
NM_015295.3(SMCHD1):c.5428G>C (p.Ala1810Pro)
|
|
|
NM_015295.3(SMCHD1):c.5437T>G (p.Leu1813Val)
|
rs2143783851
|
|
NM_015295.3(SMCHD1):c.544G>A (p.Val182Met)
|
|
|
NM_015295.3(SMCHD1):c.5474C>T (p.Thr1825Ile)
|
|
|
NM_015295.3(SMCHD1):c.5476+15G>A
|
|
|
NM_015295.3(SMCHD1):c.5476+16G>T
|
|
|
NM_015295.3(SMCHD1):c.5476+19A>G
|
|
|
NM_015295.3(SMCHD1):c.5476+9C>T
|
|
|
NM_015295.3(SMCHD1):c.5476+9_5476+10inv
|
|
|
NM_015295.3(SMCHD1):c.5477-13T>C
|
rs1335164613
|
|
NM_015295.3(SMCHD1):c.5477-16T>C
|
rs1303675561
|
|
NM_015295.3(SMCHD1):c.5477-3dup
|
|
|
NM_015295.3(SMCHD1):c.5500A>G (p.Thr1834Ala)
|
|
|
NM_015295.3(SMCHD1):c.5504T>C (p.Ile1835Thr)
|
|
|
NM_015295.3(SMCHD1):c.5507T>C (p.Ile1836Thr)
|
|
|
NM_015295.3(SMCHD1):c.5525C>T (p.Ala1842Val)
|
|
|
NM_015295.3(SMCHD1):c.5527G>A (p.Ala1843Thr)
|
rs867875905
|
|
NM_015295.3(SMCHD1):c.5538T>C (p.Tyr1846=)
|
|
|
NM_015295.3(SMCHD1):c.5545G>A (p.Glu1849Lys)
|
|
|
NM_015295.3(SMCHD1):c.5547+1G>C
|
rs1555654127
|
|
NM_015295.3(SMCHD1):c.5548-10T>C
|
|
|
NM_015295.3(SMCHD1):c.5548-60C>T
|
|
|
NM_015295.3(SMCHD1):c.5548G>A (p.Val1850Ile)
|
|
|
NM_015295.3(SMCHD1):c.555T>C (p.Asn185=)
|
rs1451229050
|
|
NM_015295.3(SMCHD1):c.5568T>A (p.Cys1856Ter)
|
rs1568383892
|
|
NM_015295.3(SMCHD1):c.5572A>G (p.Thr1858Ala)
|
|
|
NM_015295.3(SMCHD1):c.5597G>A (p.Arg1866Gln)
|
rs886044586
|
|
NM_015295.3(SMCHD1):c.5606G>A (p.Ser1869Asn)
|
|
|
NM_015295.3(SMCHD1):c.5613A>G (p.Gly1871=)
|
|
|
NM_015295.3(SMCHD1):c.5647A>G (p.Met1883Val)
|
rs776598393
|
|
NM_015295.3(SMCHD1):c.5650G>C (p.Asp1884His)
|
rs2143815414
|
|
NM_015295.3(SMCHD1):c.5686C>G (p.Pro1896Ala)
|
|
|
NM_015295.3(SMCHD1):c.5696G>A (p.Cys1899Tyr)
|
|
|
NM_015295.3(SMCHD1):c.5697T>C (p.Cys1899=)
|
rs2143815572
|
|
NM_015295.3(SMCHD1):c.5719+9A>C
|
|
|
NM_015295.3(SMCHD1):c.5720-2A>C
|
|
|
NM_015295.3(SMCHD1):c.5720-4A>G
|
|
|
NM_015295.3(SMCHD1):c.5720-5T>C
|
|
|
NM_015295.3(SMCHD1):c.5723TTC[1] (p.Leu1909del)
|
|
|
NM_015295.3(SMCHD1):c.5729A>G (p.Gln1910Arg)
|
|
|
NM_015295.3(SMCHD1):c.5730G>A (p.Gln1910=)
|
|
|
NM_015295.3(SMCHD1):c.5738G>A (p.Arg1913His)
|
|
|
NM_015295.3(SMCHD1):c.573T>A (p.Ser191=)
|
|
|
NM_015295.3(SMCHD1):c.5743G>T (p.Ala1915Ser)
|
rs1568408187
|
|
NM_015295.3(SMCHD1):c.5757A>G (p.Leu1919=)
|
rs886043263
|
|
NM_015295.3(SMCHD1):c.5760C>G (p.Asp1920Glu)
|
|
|
NM_015295.3(SMCHD1):c.5773G>A (p.Asp1925Asn)
|
|
|
NM_015295.3(SMCHD1):c.5775T>A (p.Asp1925Glu)
|
rs374989057
|
|
NM_015295.3(SMCHD1):c.5782A>G (p.Ser1928Gly)
|
rs1170346716
|
|
NM_015295.3(SMCHD1):c.5782dup (p.Ser1928fs)
|
rs1555658855
|
|
NM_015295.3(SMCHD1):c.5783G>A (p.Ser1928Asn)
|
|
|
NM_015295.3(SMCHD1):c.5800C>T (p.Arg1934Cys)
|
|
|
NM_015295.3(SMCHD1):c.5801G>A (p.Arg1934His)
|
|
|
NM_015295.3(SMCHD1):c.5804C>G (p.Thr1935Ser)
|
rs886043895
|
|
NM_015295.3(SMCHD1):c.5808G>A (p.Pro1936=)
|
|
|
NM_015295.3(SMCHD1):c.5812A>G (p.Met1938Val)
|
rs1598460238
|
|
NM_015295.3(SMCHD1):c.583A>T (p.Asn195Tyr)
|
|
|
NM_015295.3(SMCHD1):c.5858A>G (p.Lys1953Arg)
|
|
|
NM_015295.3(SMCHD1):c.5860C>T (p.Leu1954=)
|
|
|
NM_015295.3(SMCHD1):c.5878+17T>C
|
|
|
NM_015295.3(SMCHD1):c.5878+17del
|
|
|
NM_015295.3(SMCHD1):c.5878+9T>C
|
rs1555658928
|
|
NM_015295.3(SMCHD1):c.5879-20T>C
|
|
|
NM_015295.3(SMCHD1):c.5879-3C>T
|
|
|
NM_015295.3(SMCHD1):c.5879-5_5894dup
|
rs1282620693
|
|
NM_015295.3(SMCHD1):c.5879-7T>G
|
|
|
NM_015295.3(SMCHD1):c.5881A>G (p.Met1961Val)
|
|
|
NM_015295.3(SMCHD1):c.5889C>A (p.Pro1963=)
|
rs2143862551
|
|
NM_015295.3(SMCHD1):c.5893C>T (p.Arg1965Cys)
|
|
|
NM_015295.3(SMCHD1):c.5894G>A (p.Arg1965His)
|
|
|
NM_015295.3(SMCHD1):c.5894G>C (p.Arg1965Pro)
|
rs755578313
|
|
NM_015295.3(SMCHD1):c.5912T>G (p.Leu1971Trp)
|
|
|
NM_015295.3(SMCHD1):c.5923C>T (p.Pro1975Ser)
|
rs886042874
|
|
NM_015295.3(SMCHD1):c.5925A>G (p.Pro1975=)
|
|
|
NM_015295.3(SMCHD1):c.5933A>G (p.Glu1978Gly)
|
|
|
NM_015295.3(SMCHD1):c.594C>G (p.Ala198=)
|
|
|
NM_015295.3(SMCHD1):c.5950G>T (p.Val1984Phe)
|
|
|
NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=)
|
rs886042374
|
|
NM_015295.3(SMCHD1):c.5973A>T (p.Arg1991=)
|
rs770381523
|
|
NM_015295.3(SMCHD1):c.597G>A (p.Val199=)
|
|
|
NM_015295.3(SMCHD1):c.5980A>G (p.Thr1994Ala)
|
|
|
NM_015295.3(SMCHD1):c.5991T>C (p.Asn1997=)
|
|
|
NM_015295.3(SMCHD1):c.5993+3_5993+7dup
|
|
|
NM_015295.3(SMCHD1):c.5994-11C>G
|
|
|
NM_015295.3(SMCHD1):c.5994-12C>G
|
rs2076382342
|
|
NM_015295.3(SMCHD1):c.5994-6G>C
|
|
|
NM_015295.3(SMCHD1):c.5998A>G (p.Ile2000Val)
|
|
|
NM_015295.3(SMCHD1):c.599A>G (p.Tyr200Cys)
|
|
|
NM_015295.3(SMCHD1):c.6004A>G (p.Lys2002Glu)
|
|
|
NM_015295.3(SMCHD1):c.6012T>C (p.Asp2004=)
|
|
|
NM_015295.3(SMCHD1):c.606G>T (p.Leu202Phe)
|
rs2143845898
|
|
NM_015295.3(SMCHD1):c.608C>T (p.Ser203Leu)
|
rs1598294699
|
|
NM_015295.3(SMCHD1):c.614T>A (p.Phe205Tyr)
|
|
|
NM_015295.3(SMCHD1):c.625G>A (p.Gly209Ser)
|
|
|
NM_015295.3(SMCHD1):c.638+14_638+17del
|
rs763531102
|
|
NM_015295.3(SMCHD1):c.638+154A>C
|
|
|
NM_015295.3(SMCHD1):c.638+17T>C
|
|
|
NM_015295.3(SMCHD1):c.638+1G>A
|
|
|
NM_015295.3(SMCHD1):c.638+27del
|
rs74270564
|
|
NM_015295.3(SMCHD1):c.638+27dup
|
|
|
NM_015295.3(SMCHD1):c.638+4A>T
|
|
|
NM_015295.3(SMCHD1):c.639-20G>A
|
rs973692034
|
|
NM_015295.3(SMCHD1):c.639-229C>A
|
rs1561820
|
|
NM_015295.3(SMCHD1):c.642T>G (p.Asp214Glu)
|
|
|
NM_015295.3(SMCHD1):c.649G>A (p.Gly217Arg)
|
|
|
NM_015295.3(SMCHD1):c.659G>A (p.Arg220His)
|
|
|
NM_015295.3(SMCHD1):c.659G>C (p.Arg220Pro)
|
|
|
NM_015295.3(SMCHD1):c.661C>G (p.Pro221Ala)
|
|
|
NM_015295.3(SMCHD1):c.676C>T (p.Arg226Cys)
|
rs2074100315
|
|
NM_015295.3(SMCHD1):c.692A>G (p.Asp231Gly)
|
|
|
NM_015295.3(SMCHD1):c.694A>G (p.Ile232Val)
|
rs1568143698
|
|
NM_015295.3(SMCHD1):c.714G>A (p.Gly238=)
|
|
|
NM_015295.3(SMCHD1):c.714G>C (p.Gly238=)
|
|
|
NM_015295.3(SMCHD1):c.71G>A (p.Gly24Asp)
|
|
|
NM_015295.3(SMCHD1):c.725C>G (p.Ala242Gly)
|
rs1135402741
|
|
NM_015295.3(SMCHD1):c.727_730del (p.Val243fs)
|
rs2143048943
|
|
NM_015295.3(SMCHD1):c.74A>G (p.His25Arg)
|
|
|
NM_015295.3(SMCHD1):c.753+10_753+11del
|
rs1167194316
|
|
NM_015295.3(SMCHD1):c.753+7A>G
|
|
|
NM_015295.3(SMCHD1):c.754-14_754-13del
|
|
|
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys)
|
rs867104086
|
|
NM_015295.3(SMCHD1):c.79A>G (p.Thr27Ala)
|
rs2073049032
|
|
NM_015295.3(SMCHD1):c.80C>T (p.Thr27Met)
|
|
|
NM_015295.3(SMCHD1):c.810A>T (p.Glu270Asp)
|
|
|
NM_015295.3(SMCHD1):c.820AAG[1] (p.Lys275del)
|
rs746679988
|
|
NM_015295.3(SMCHD1):c.823A>G (p.Lys275Glu)
|
|
|
NM_015295.3(SMCHD1):c.837A>G (p.Lys279=)
|
|
|
NM_015295.3(SMCHD1):c.839A>G (p.Glu280Gly)
|
|
|
NM_015295.3(SMCHD1):c.846A>G (p.Ile282Met)
|
rs886044033
|
|
NM_015295.3(SMCHD1):c.848A>G (p.Tyr283Cys)
|
rs886041921
|
|
NM_015295.3(SMCHD1):c.853G>A (p.Gly285Arg)
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rs1568144816
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NM_015295.3(SMCHD1):c.873+14_873+18del
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rs2143052218
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NM_015295.3(SMCHD1):c.873+19C>T
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NM_015295.3(SMCHD1):c.873+24_873+29del
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NM_015295.3(SMCHD1):c.873+6A>G
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NM_015295.3(SMCHD1):c.873+7dup
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NM_015295.3(SMCHD1):c.873+8A>T
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NM_015295.3(SMCHD1):c.873+9C>A
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NM_015295.3(SMCHD1):c.874-16C>G
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NM_015295.3(SMCHD1):c.874-20A>G
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NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter)
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rs2073049380
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NM_015295.3(SMCHD1):c.882T>C (p.Asp294=)
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NM_015295.3(SMCHD1):c.885T>A (p.Ser295=)
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NM_015295.3(SMCHD1):c.896C>T (p.Thr299Ile)
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NM_015295.3(SMCHD1):c.89T>G (p.Leu30Trp)
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rs1598264942
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NM_015295.3(SMCHD1):c.94G>A (p.Asp32Asn)
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NM_015295.3(SMCHD1):c.963T>C (p.Ala321=)
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rs2143118993
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NM_015295.3(SMCHD1):c.976G>C (p.Gly326Arg)
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NM_015295.3(SMCHD1):c.977G>A (p.Gly326Glu)
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rs2143119041
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NM_015295.3(SMCHD1):c.990A>G (p.Glu330=)
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rs1001785728
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NM_015295.3(SMCHD1):c.993C>G (p.His331Gln)
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