ClinVar Miner

List of variants in gene SMCHD1

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Gene type:
ClinVar version:
Total variants: 1385
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HGVS dbSNP gnomAD frequency
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) rs1568144816
NM_015295.3(SMCHD1):c.873+14_873+18del rs2143052218
NM_015295.3(SMCHD1):c.873+19C>T
NM_015295.3(SMCHD1):c.873+24_873+29del
NM_015295.3(SMCHD1):c.873+6A>G
NM_015295.3(SMCHD1):c.873+7dup
NM_015295.3(SMCHD1):c.873+8A>T
NM_015295.3(SMCHD1):c.873+9C>A
NM_015295.3(SMCHD1):c.874-16C>G
NM_015295.3(SMCHD1):c.874-20A>G
NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter) rs2073049380
NM_015295.3(SMCHD1):c.882T>C (p.Asp294=)
NM_015295.3(SMCHD1):c.885T>A (p.Ser295=)
NM_015295.3(SMCHD1):c.896C>T (p.Thr299Ile)
NM_015295.3(SMCHD1):c.89T>G (p.Leu30Trp) rs1598264942
NM_015295.3(SMCHD1):c.94G>A (p.Asp32Asn)
NM_015295.3(SMCHD1):c.963T>C (p.Ala321=) rs2143118993
NM_015295.3(SMCHD1):c.976G>C (p.Gly326Arg)
NM_015295.3(SMCHD1):c.977G>A (p.Gly326Glu) rs2143119041
NM_015295.3(SMCHD1):c.990A>G (p.Glu330=) rs1001785728
NM_015295.3(SMCHD1):c.993C>G (p.His331Gln)

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