NM_015295.3(SMCHD1):c.873+7T>C
|
rs114242799
|
0.00957
|
NM_015295.3(SMCHD1):c.2147-7C>T
|
rs113524119
|
0.00473
|
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)
|
rs117771893
|
0.00426
|
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.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.2064-9T>C
|
rs376058538
|
0.00019
|
NM_015295.3(SMCHD1):c.5155A>G (p.Ser1719Gly)
|
rs201221497
|
0.00019
|
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.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.4912G>A (p.Val1638Ile)
|
rs370473143
|
0.00010
|
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.3047C>T (p.Pro1016Leu)
|
rs528154864
|
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.925C>G (p.Leu309Val)
|
rs569470518
|
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.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.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.2424A>C (p.Pro808=)
|
rs374039360
|
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.5478A>G (p.Val1826=)
|
rs886043464
|
0.00003
|
NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=)
|
rs886044408
|
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.4040A>G (p.Tyr1347Cys)
|
rs774156694
|
0.00002
|
NM_015295.3(SMCHD1):c.4178G>C (p.Ser1393Thr)
|
rs369758530
|
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.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.130C>A (p.Pro44Thr)
|
rs1271107369
|
0.00001
|
NM_015295.3(SMCHD1):c.1390G>T (p.Ala464Ser)
|
rs752328609
|
0.00001
|
NM_015295.3(SMCHD1):c.1647+7T>A
|
rs1339306673
|
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.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.437C>T (p.Ala146Val)
|
rs886043899
|
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
|
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs)
|
rs1555635144
|
|
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.121G>A (p.Gly41Arg)
|
rs1555622312
|
|
NM_015295.3(SMCHD1):c.1421del (p.Cys474fs)
|
rs886043188
|
|
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.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.1810T>A (p.Trp604Arg)
|
rs886042753
|
|
NM_015295.3(SMCHD1):c.1843-1G>A
|
rs886043146
|
|
NM_015295.3(SMCHD1):c.1843-8_1843-5del
|
rs765362255
|
|
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.1872_1873del (p.Phe624fs)
|
rs1568188407
|
|
NM_015295.3(SMCHD1):c.1932A>G (p.Thr644=)
|
rs930570856
|
|
NM_015295.3(SMCHD1):c.2147-4A>C
|
rs777682119
|
|
NM_015295.3(SMCHD1):c.2261-21TTTCTTT[3]
|
rs780684469
|
|
NM_015295.3(SMCHD1):c.2338G>A (p.Glu780Lys)
|
rs886044357
|
|
NM_015295.3(SMCHD1):c.2458+3A>C
|
rs1555638164
|
|
NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn)
|
rs633422
|
|
NM_015295.3(SMCHD1):c.2701-8del
|
rs886044517
|
|
NM_015295.3(SMCHD1):c.2701-8dup
|
rs886044517
|
|
NM_015295.3(SMCHD1):c.2818G>A (p.Val940Ile)
|
rs779974698
|
|
NM_015295.3(SMCHD1):c.2914-8T>C
|
rs886043095
|
|
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.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.3276_3276+4del
|
rs1555642277
|
|
NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=)
|
rs747331582
|
|
NM_015295.3(SMCHD1):c.3425+10C>A
|
rs1555644115
|
|
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
|
rs76290319
|
|
NM_015295.3(SMCHD1):c.3514+7A>G
|
rs886044081
|
|
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
|
|
|
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
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NM_015295.3(SMCHD1):c.3715C>T (p.Arg1239Cys)
|
rs771294371
|
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NM_015295.3(SMCHD1):c.3718G>C (p.Glu1240Gln)
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rs886044366
|
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NM_015295.3(SMCHD1):c.3801+1G>A
|
rs886042417
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NM_015295.3(SMCHD1):c.3838C>A (p.Pro1280Thr)
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rs1322896954
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NM_015295.3(SMCHD1):c.4008-7_4008-3del
|
rs760383946
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NM_015295.3(SMCHD1):c.4135_4137delinsACG (p.Ala1379Thr)
|
rs1568306321
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NM_015295.3(SMCHD1):c.4153G>A (p.Gly1385Ser)
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rs774329481
|
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NM_015295.3(SMCHD1):c.4153G>T (p.Gly1385Cys)
|
rs774329481
|
|
NM_015295.3(SMCHD1):c.4166-1G>T
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rs886042327
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NM_015295.3(SMCHD1):c.424+1G>A
|
rs1555625396
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NM_015295.3(SMCHD1):c.4282-5dup
|
rs752013568
|
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NM_015295.3(SMCHD1):c.4492C>T (p.Pro1498Ser)
|
rs767117563
|
|
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
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|
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.4799dup (p.Leu1600fs)
|
rs867598503
|
|
NM_015295.3(SMCHD1):c.4803A>G (p.Ser1601=)
|
rs1568350613
|
|
NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=)
|
rs774077792
|
|
NM_015295.3(SMCHD1):c.4847-6del
|
rs763328487
|
|
NM_015295.3(SMCHD1):c.4879dup (p.Thr1627fs)
|
rs886044257
|
|
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.5038C>G (p.Pro1680Ala)
|
rs769986044
|
|
NM_015295.3(SMCHD1):c.5072T>G (p.Leu1691Arg)
|
rs886043181
|
|
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=)
|
rs371834462
|
|
NM_015295.3(SMCHD1):c.5175G>T (p.Lys1725Asn)
|
rs763696893
|
|
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=)
|
rs1172138387
|
|
NM_015295.3(SMCHD1):c.5416G>A (p.Asp1806Asn)
|
rs886044362
|
|
NM_015295.3(SMCHD1):c.5527G>A (p.Ala1843Thr)
|
rs867875905
|
|
NM_015295.3(SMCHD1):c.5547+1G>C
|
rs1555654127
|
|
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.5647A>G (p.Met1883Val)
|
rs776598393
|
|
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.5804C>G (p.Thr1935Ser)
|
rs886043895
|
|
NM_015295.3(SMCHD1):c.5878+9T>C
|
rs1555658928
|
|
NM_015295.3(SMCHD1):c.5879-5_5894dup
|
rs1282620693
|
|
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.753+10_753+11del
|
rs1167194316
|
|
NM_015295.3(SMCHD1):c.846A>G (p.Ile282Met)
|
rs886044033
|
|
NM_015295.3(SMCHD1):c.853G>A (p.Gly285Arg)
|
rs1568144816
|
|