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.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.2913+6C>G
|
rs186678728
|
0.00153
|
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.306G>A (p.Ser102=)
|
rs7229488
|
0.00063
|
NM_015295.3(SMCHD1):c.3633+7C>T
|
rs200391083
|
0.00060
|
NM_015295.3(SMCHD1):c.3636A>G (p.Glu1212=)
|
rs372008124
|
0.00053
|
NM_015295.3(SMCHD1):c.789C>T (p.His263=)
|
rs374899324
|
0.00046
|
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.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.1608A>G (p.Lys536=)
|
rs72862973
|
0.00021
|
NM_015295.3(SMCHD1):c.4696G>A (p.Val1566Met)
|
rs569043880
|
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.5155A>G (p.Ser1719Gly)
|
rs201221497
|
0.00019
|
NM_015295.3(SMCHD1):c.4105G>A (p.Val1369Ile)
|
rs375198512
|
0.00015
|
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.2025G>A (p.Glu675=)
|
rs766575963
|
0.00012
|
NM_015295.3(SMCHD1):c.4783C>G (p.Pro1595Ala)
|
rs369179110
|
0.00012
|
NM_015295.3(SMCHD1):c.1290T>C (p.His430=)
|
rs376328601
|
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.4912G>A (p.Val1638Ile)
|
rs370473143
|
0.00010
|
NM_015295.3(SMCHD1):c.5411T>C (p.Ile1804Thr)
|
rs370249291
|
0.00009
|
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.3047C>T (p.Pro1016Leu)
|
rs528154864
|
0.00006
|
NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser)
|
rs375795924
|
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.3414G>A (p.Ala1138=)
|
rs778892054
|
0.00005
|
NM_015295.3(SMCHD1):c.3769C>T (p.Leu1257Phe)
|
rs766226383
|
0.00005
|
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=)
|
rs763699437
|
0.00005
|
NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr)
|
rs776944618
|
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.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.3340G>A (p.Val1114Ile)
|
rs778206654
|
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.3868G>T (p.Asp1290Tyr)
|
rs146798599
|
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.6005A>C (p.Lys2002Thr)
|
rs959328
|
0.00004
|
NM_015295.3(SMCHD1):c.744A>G (p.Gln248=)
|
rs746148722
|
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.3251C>T (p.Thr1084Ile)
|
rs371392245
|
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.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.5478A>G (p.Val1826=)
|
rs886043464
|
0.00003
|
NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=)
|
rs886044408
|
0.00003
|
NM_015295.3(SMCHD1):c.677G>A (p.Arg226His)
|
rs1012435079
|
0.00003
|
NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=)
|
rs755868793
|
0.00002
|
NM_015295.3(SMCHD1):c.2507G>A (p.Arg836His)
|
rs762661772
|
0.00002
|
NM_015295.3(SMCHD1):c.2945T>C (p.Val982Ala)
|
rs944887850
|
0.00002
|
NM_015295.3(SMCHD1):c.3106G>A (p.Val1036Ile)
|
rs183236583
|
0.00002
|
NM_015295.3(SMCHD1):c.3732T>C (p.Phe1244=)
|
rs765602142
|
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.4281T>C (p.Asn1427=)
|
rs757680634
|
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.5526G>A (p.Ala1842=)
|
rs760266416
|
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.130C>A (p.Pro44Thr)
|
rs1271107369
|
0.00001
|
NM_015295.3(SMCHD1):c.1390G>T (p.Ala464Ser)
|
rs752328609
|
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.2283T>C (p.Ile761=)
|
rs773520979
|
0.00001
|
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=)
|
rs760899591
|
0.00001
|
NM_015295.3(SMCHD1):c.2577T>C (p.Thr859=)
|
rs1408054045
|
0.00001
|
NM_015295.3(SMCHD1):c.2660G>C (p.Gly887Ala)
|
rs1460743863
|
0.00001
|
NM_015295.3(SMCHD1):c.2701-8T>C
|
rs1324600079
|
0.00001
|
NM_015295.3(SMCHD1):c.3245A>G (p.Asn1082Ser)
|
rs756368420
|
0.00001
|
NM_015295.3(SMCHD1):c.3277-5C>T
|
rs542259388
|
0.00001
|
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met)
|
rs536643888
|
0.00001
|
NM_015295.3(SMCHD1):c.3891T>C (p.His1297=)
|
rs758075470
|
0.00001
|
NM_015295.3(SMCHD1):c.4087C>G (p.Pro1363Ala)
|
rs367680898
|
0.00001
|
NM_015295.3(SMCHD1):c.4226G>A (p.Arg1409His)
|
rs746741499
|
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.4517G>A (p.Arg1506His)
|
rs756166672
|
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.5175+3T>C
|
rs751445777
|
0.00001
|
NM_015295.3(SMCHD1):c.5291A>G (p.Tyr1764Cys)
|
rs1167815943
|
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.55G>C (p.Asp19His)
|
rs748596758
|
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.5937G>A (p.Thr1979=)
|
rs776794549
|
0.00001
|
NM_015295.3(SMCHD1):c.63A>G (p.Gly21=)
|
rs772718353
|
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(chr18:2690355-2776268)x3
|
|
|
GRCh37/hg19 18p11.32(chr18:2740714-2791071)x3
|
|
|
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs)
|
rs1555635144
|
|
NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter)
|
rs886041918
|
|
NM_015295.3(SMCHD1):c.1049A>T (p.Tyr350Phe)
|
|
|
NM_015295.3(SMCHD1):c.1126A>T (p.Ile376Phe)
|
rs185618962
|
|
NM_015295.3(SMCHD1):c.1132-146A>G
|
rs62084202
|
|
NM_015295.3(SMCHD1):c.1138A>G (p.Met380Val)
|
rs752031550
|
|
NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=)
|
rs778279069
|
|
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.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.1283G>T (p.Arg428Leu)
|
|
|
NM_015295.3(SMCHD1):c.1291C>T (p.Pro431Ser)
|
rs2143155206
|
|
NM_015295.3(SMCHD1):c.1304A>G (p.Asp435Gly)
|
|
|
NM_015295.3(SMCHD1):c.1330T>G (p.Cys444Gly)
|
|
|
NM_015295.3(SMCHD1):c.1421del (p.Cys474fs)
|
rs886043188
|
|
NM_015295.3(SMCHD1):c.1464-7G>C
|
rs1347095679
|
|
NM_015295.3(SMCHD1):c.1473G>C (p.Trp491Cys)
|
|
|
NM_015295.3(SMCHD1):c.1473G>T (p.Trp491Cys)
|
rs1568176024
|
|
NM_015295.3(SMCHD1):c.1487AGA[1] (p.Lys497del)
|
rs886043345
|
|
NM_015295.3(SMCHD1):c.1566C>G (p.Ser522Arg)
|
rs1555633547
|
|
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.1647+245dup
|
rs200431551
|
|
NM_015295.3(SMCHD1):c.1647+259dup
|
rs60371199
|
|
NM_015295.3(SMCHD1):c.1648-3C>T
|
|
|
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.1768_1769delinsAA (p.Ser590Asn)
|
rs886043386
|
|
NM_015295.3(SMCHD1):c.1807G>C (p.Glu603Gln)
|
|
|
NM_015295.3(SMCHD1):c.1810T>A (p.Trp604Arg)
|
rs886042753
|
|
NM_015295.3(SMCHD1):c.1843-17del
|
rs377473058
|
|
NM_015295.3(SMCHD1):c.1843-17dup
|
rs377473058
|
|
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.1872_1873del (p.Phe624fs)
|
rs1568188407
|
|
NM_015295.3(SMCHD1):c.1891T>C (p.Phe631Leu)
|
rs2143233975
|
|
NM_015295.3(SMCHD1):c.1916_1918del (p.Gly639del)
|
rs1598342592
|
|
NM_015295.3(SMCHD1):c.1932A>G (p.Thr644=)
|
rs930570856
|
|
NM_015295.3(SMCHD1):c.1976A>G (p.Asp659Gly)
|
|
|
NM_015295.3(SMCHD1):c.1987A>G (p.Thr663Ala)
|
|
|
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.2064-200del
|
rs375152655
|
|
NM_015295.3(SMCHD1):c.2071_2075del (p.Asp691fs)
|
rs2143255167
|
|
NM_015295.3(SMCHD1):c.2147-4A>C
|
rs777682119
|
|
NM_015295.3(SMCHD1):c.2176_2179del (p.Lys726fs)
|
|
|
NM_015295.3(SMCHD1):c.220A>G (p.Ile74Val)
|
|
|
NM_015295.3(SMCHD1):c.2260+335_2260+346dup
|
rs79163865
|
|
NM_015295.3(SMCHD1):c.2260+3A>G
|
|
|
NM_015295.3(SMCHD1):c.2261-21TTTCTTT[3]
|
rs780684469
|
|
NM_015295.3(SMCHD1):c.2338G>A (p.Glu780Lys)
|
rs886044357
|
|
NM_015295.3(SMCHD1):c.2420G>A (p.Arg807Lys)
|
|
|
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+3A>C
|
rs1555638164
|
|
NM_015295.3(SMCHD1):c.2603+288_2603+290del
|
rs147857184
|
|
NM_015295.3(SMCHD1):c.2604-1G>T
|
rs2143424506
|
|
NM_015295.3(SMCHD1):c.262+1G>T
|
|
|
NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn)
|
rs633422
|
|
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
|
|
|
NM_015295.3(SMCHD1):c.2700+275A>G
|
rs673364
|
|
NM_015295.3(SMCHD1):c.2701-211C>A
|
rs62084253
|
|
NM_015295.3(SMCHD1):c.2701-8del
|
rs886044517
|
|
NM_015295.3(SMCHD1):c.2701-8dup
|
rs886044517
|
|
NM_015295.3(SMCHD1):c.2750T>A (p.Ile917Asn)
|
|
|
NM_015295.3(SMCHD1):c.2772_2773+2dup
|
|
|
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.2861T>C (p.Leu954Ser)
|
|
|
NM_015295.3(SMCHD1):c.2913+157_2913+158del
|
rs67636305
|
|
NM_015295.3(SMCHD1):c.2913+158del
|
rs67636305
|
|
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.2934T>G (p.Leu978=)
|
|
|
NM_015295.3(SMCHD1):c.2953T>G (p.Cys985Gly)
|
|
|
NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro)
|
rs1598284093
|
|
NM_015295.3(SMCHD1):c.2T>G (p.Met1Arg)
|
rs1555622203
|
|
NM_015295.3(SMCHD1):c.3024G>T (p.Thr1008=)
|
rs781311866
|
|
NM_015295.3(SMCHD1):c.3030A>G (p.Lys1010=)
|
|
|
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.3049-2A>G
|
rs2143484371
|
|
NM_015295.3(SMCHD1):c.3058G>T (p.Asp1020Tyr)
|
|
|
NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)
|
|
|
NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe)
|
rs1568260824
|
|
NM_015295.3(SMCHD1):c.3197del (p.Met1066fs)
|
rs1568261067
|
|
NM_015295.3(SMCHD1):c.319C>T (p.Leu107=)
|
rs769766392
|
|
NM_015295.3(SMCHD1):c.3238_3239del (p.Glu1080fs)
|
rs886043182
|
|
NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val)
|
|
|
NM_015295.3(SMCHD1):c.3276+177A>T
|
rs62084258
|
|
NM_015295.3(SMCHD1):c.3276+4_3276+7del
|
rs2075161499
|
|
NM_015295.3(SMCHD1):c.3276_3276+4del
|
rs1555642277
|
|
NM_015295.3(SMCHD1):c.3277-283C>T
|
rs11080986
|
|
NM_015295.3(SMCHD1):c.3283T>G (p.Trp1095Gly)
|
|
|
NM_015295.3(SMCHD1):c.3307C>T (p.His1103Tyr)
|
|
|
NM_015295.3(SMCHD1):c.3316C>G (p.Gln1106Glu)
|
|
|
NM_015295.3(SMCHD1):c.332C>T (p.Thr111Met)
|
|
|
NM_015295.3(SMCHD1):c.3349T>G (p.Ser1117Ala)
|
|
|
NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=)
|
rs747331582
|
|
NM_015295.3(SMCHD1):c.3425+10C>A
|
rs1555644115
|
|
NM_015295.3(SMCHD1):c.3426-5T>G
|
|
|
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.3491G>A (p.Gly1164Asp)
|
|
|
NM_015295.3(SMCHD1):c.3514+7A>G
|
rs886044081
|
|
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
|
|
|
NM_015295.3(SMCHD1):c.3583_3584delinsCA (p.Ser1195Gln)
|
rs2143547958
|
|
NM_015295.3(SMCHD1):c.35_45dup (p.Thr16fs)
|
|
|
NM_015295.3(SMCHD1):c.3625A>G (p.Thr1209Ala)
|
rs745810454
|
|
NM_015295.3(SMCHD1):c.3634-10dup
|
rs763101269
|
|
NM_015295.3(SMCHD1):c.3634-1G>C
|
rs886042282
|
|
NM_015295.3(SMCHD1):c.3634-35C>T
|
rs59023685
|
|
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.3763G>T (p.Ala1255Ser)
|
|
|
NM_015295.3(SMCHD1):c.3787C>T (p.Pro1263Ser)
|
|
|
NM_015295.3(SMCHD1):c.3788C>T (p.Pro1263Leu)
|
rs2143570854
|
|
NM_015295.3(SMCHD1):c.3801+1G>A
|
rs886042417
|
|
NM_015295.3(SMCHD1):c.3804C>T (p.Ser1268=)
|
rs1598399244
|
|
NM_015295.3(SMCHD1):c.3838C>A (p.Pro1280Thr)
|
rs1322896954
|
|
NM_015295.3(SMCHD1):c.3908C>A (p.Thr1303Lys)
|
|
|
NM_015295.3(SMCHD1):c.3908C>G (p.Thr1303Arg)
|
|
|
NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)
|
|
|
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.4100A>G (p.Lys1367Arg)
|
rs2143618974
|
|
NM_015295.3(SMCHD1):c.4126G>A (p.Asp1376Asn)
|
|
|
NM_015295.3(SMCHD1):c.4130A>G (p.Lys1377Arg)
|
|
|
NM_015295.3(SMCHD1):c.4135_4137delinsACG (p.Ala1379Thr)
|
rs1568306321
|
|
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.4165+149G>A
|
|
|
NM_015295.3(SMCHD1):c.4165+301C>T
|
rs62077668
|
|
NM_015295.3(SMCHD1):c.4166-1G>T
|
rs886042327
|
|
NM_015295.3(SMCHD1):c.424+1G>A
|
rs1555625396
|
|
NM_015295.3(SMCHD1):c.4254T>G (p.Ser1418=)
|
|
|
NM_015295.3(SMCHD1):c.4267C>T (p.Arg1423Ter)
|
|
|
NM_015295.3(SMCHD1):c.4281+246T>C
|
rs7237908
|
|
NM_015295.3(SMCHD1):c.4282-5dup
|
rs752013568
|
|
NM_015295.3(SMCHD1):c.4338C>A (p.Phe1446Leu)
|
|
|
NM_015295.3(SMCHD1):c.4492C>T (p.Pro1498Ser)
|
rs767117563
|
|
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.4633A>G (p.Asn1545Asp)
|
rs886044429
|
|
NM_015295.3(SMCHD1):c.4638G>A (p.Glu1546=)
|
rs1568336400
|
|
NM_015295.3(SMCHD1):c.4652C>T (p.Thr1551Ile)
|
|
|
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=)
|
rs757300247
|
|
NM_015295.3(SMCHD1):c.4719+1G>A
|
rs886044369
|
|
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.4747G>A (p.Gly1583Arg)
|
|
|
NM_015295.3(SMCHD1):c.4799dup (p.Leu1600fs)
|
rs867598503
|
|
NM_015295.3(SMCHD1):c.47C>T (p.Thr16Ile)
|
|
|
NM_015295.3(SMCHD1):c.4803A>G (p.Ser1601=)
|
rs1568350613
|
|
NM_015295.3(SMCHD1):c.4822A>G (p.Ile1608Val)
|
|
|
NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=)
|
rs774077792
|
|
NM_015295.3(SMCHD1):c.4847-1G>T
|
|
|
NM_015295.3(SMCHD1):c.4879dup (p.Thr1627fs)
|
rs886044257
|
|
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.4915A>G (p.Met1639Val)
|
rs1555651856
|
|
NM_015295.3(SMCHD1):c.495A>G (p.Ile165Met)
|
rs1555626822
|
|
NM_015295.3(SMCHD1):c.5006G>T (p.Arg1669Leu)
|
rs368367743
|
|
NM_015295.3(SMCHD1):c.5020del (p.Ile1674fs)
|
rs886044129
|
|
NM_015295.3(SMCHD1):c.5022A>G (p.Ile1674Met)
|
|
|
NM_015295.3(SMCHD1):c.5038C>G (p.Pro1680Ala)
|
rs769986044
|
|
NM_015295.3(SMCHD1):c.5052+2T>C
|
|
|
NM_015295.3(SMCHD1):c.5052+52A>G
|
|
|
NM_015295.3(SMCHD1):c.5064T>G (p.Ile1688Met)
|
|
|
NM_015295.3(SMCHD1):c.5072T>G (p.Leu1691Arg)
|
rs886043181
|
|
NM_015295.3(SMCHD1):c.508-5C>T
|
|
|
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=)
|
rs371834462
|
|
NM_015295.3(SMCHD1):c.5142C>G (p.Asn1714Lys)
|
|
|
NM_015295.3(SMCHD1):c.5164G>A (p.Val1722Ile)
|
rs2075998748
|
|
NM_015295.3(SMCHD1):c.5175G>T (p.Lys1725Asn)
|
rs763696893
|
|
NM_015295.3(SMCHD1):c.5176-208del
|
rs35375743
|
|
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=)
|
rs1172138387
|
|
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.5383C>T (p.Arg1795Ter)
|
rs867694014
|
|
NM_015295.3(SMCHD1):c.5416G>A (p.Asp1806Asn)
|
rs886044362
|
|
NM_015295.3(SMCHD1):c.5428G>C (p.Ala1810Pro)
|
|
|
NM_015295.3(SMCHD1):c.5527G>A (p.Ala1843Thr)
|
rs867875905
|
|
NM_015295.3(SMCHD1):c.5545G>A (p.Glu1849Lys)
|
|
|
NM_015295.3(SMCHD1):c.5547+1G>C
|
rs1555654127
|
|
NM_015295.3(SMCHD1):c.5548-60C>T
|
|
|
NM_015295.3(SMCHD1):c.5568T>A (p.Cys1856Ter)
|
rs1568383892
|
|
NM_015295.3(SMCHD1):c.5597G>A (p.Arg1866Gln)
|
rs886044586
|
|
NM_015295.3(SMCHD1):c.5606G>A (p.Ser1869Asn)
|
|
|
NM_015295.3(SMCHD1):c.5647A>G (p.Met1883Val)
|
rs776598393
|
|
NM_015295.3(SMCHD1):c.5720-2A>C
|
|
|
NM_015295.3(SMCHD1):c.5738G>A (p.Arg1913His)
|
|
|
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.5782dup (p.Ser1928fs)
|
rs1555658855
|
|
NM_015295.3(SMCHD1):c.5804C>G (p.Thr1935Ser)
|
rs886043895
|
|
NM_015295.3(SMCHD1):c.5858A>G (p.Lys1953Arg)
|
|
|
NM_015295.3(SMCHD1):c.5878+9T>C
|
rs1555658928
|
|
NM_015295.3(SMCHD1):c.5879-3C>T
|
|
|
NM_015295.3(SMCHD1):c.5879-5_5894dup
|
rs1282620693
|
|
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.5923C>T (p.Pro1975Ser)
|
rs886042874
|
|
NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=)
|
rs886042374
|
|
NM_015295.3(SMCHD1):c.599A>G (p.Tyr200Cys)
|
|
|
NM_015295.3(SMCHD1):c.625G>A (p.Gly209Ser)
|
|
|
NM_015295.3(SMCHD1):c.638+154A>C
|
|
|
NM_015295.3(SMCHD1):c.638+1G>A
|
|
|
NM_015295.3(SMCHD1):c.639-229C>A
|
rs1561820
|
|
NM_015295.3(SMCHD1):c.659G>C (p.Arg220Pro)
|
|
|
NM_015295.3(SMCHD1):c.727_730del (p.Val243fs)
|
rs2143048943
|
|
NM_015295.3(SMCHD1):c.753+10_753+11del
|
rs1167194316
|
|
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.846A>G (p.Ile282Met)
|
rs886044033
|
|
NM_015295.3(SMCHD1):c.848A>G (p.Tyr283Cys)
|
rs886041921
|
|
NM_015295.3(SMCHD1):c.853G>A (p.Gly285Arg)
|
rs1568144816
|
|
NM_015295.3(SMCHD1):c.94G>A (p.Asp32Asn)
|
|
|
NM_015295.3(SMCHD1):c.977G>A (p.Gly326Glu)
|
rs2143119041
|
|