NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
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.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.3312G>C (p.Leu1104Phe)
|
rs886042340
|
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.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.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.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.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.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.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
|
|
|
NM_015295.3(SMCHD1):c.1049A>T (p.Tyr350Phe)
|
|
|
NM_015295.3(SMCHD1):c.1126A>T (p.Ile376Phe)
|
rs185618962
|
|
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.1197G>T (p.Met399Ile)
|
rs1555632930
|
|
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.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.1648-3C>T
|
|
|
NM_015295.3(SMCHD1):c.1648-4_1648-3delinsTT
|
rs2143213299
|
|
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln)
|
rs886042392
|
|
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.1843-8_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.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.2147-4A>C
|
rs777682119
|
|
NM_015295.3(SMCHD1):c.220A>G (p.Ile74Val)
|
|
|
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+3A>C
|
rs1555638164
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NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn)
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rs633422
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NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
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NM_015295.3(SMCHD1):c.2701-8del
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rs886044517
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NM_015295.3(SMCHD1):c.2701-8dup
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rs886044517
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NM_015295.3(SMCHD1):c.2750T>A (p.Ile917Asn)
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NM_015295.3(SMCHD1):c.2772_2773+2dup
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NM_015295.3(SMCHD1):c.2818G>A (p.Val940Ile)
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rs779974698
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NM_015295.3(SMCHD1):c.2822T>C (p.Ile941Thr)
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NM_015295.3(SMCHD1):c.2823A>G (p.Ile941Met)
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rs2075068734
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NM_015295.3(SMCHD1):c.2861T>C (p.Leu954Ser)
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NM_015295.3(SMCHD1):c.2914-8T>C
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rs886043095
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NM_015295.3(SMCHD1):c.2934T>G (p.Leu978=)
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NM_015295.3(SMCHD1):c.2953T>G (p.Cys985Gly)
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NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro)
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rs1598284093
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NM_015295.3(SMCHD1):c.2T>G (p.Met1Arg)
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rs1555622203
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NM_015295.3(SMCHD1):c.3024G>T (p.Thr1008=)
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rs781311866
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NM_015295.3(SMCHD1):c.3058G>T (p.Asp1020Tyr)
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NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)
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NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe)
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rs1568260824
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NM_015295.3(SMCHD1):c.319C>T (p.Leu107=)
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rs769766392
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NM_015295.3(SMCHD1):c.3283T>G (p.Trp1095Gly)
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NM_015295.3(SMCHD1):c.3307C>T (p.His1103Tyr)
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NM_015295.3(SMCHD1):c.3316C>G (p.Gln1106Glu)
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NM_015295.3(SMCHD1):c.332C>T (p.Thr111Met)
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NM_015295.3(SMCHD1):c.3349T>G (p.Ser1117Ala)
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NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=)
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rs747331582
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NM_015295.3(SMCHD1):c.3425+10C>A
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rs1555644115
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NM_015295.3(SMCHD1):c.3426-5T>G
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NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
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rs76290319
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NM_015295.3(SMCHD1):c.3491G>A (p.Gly1164Asp)
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NM_015295.3(SMCHD1):c.3514+7A>G
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rs886044081
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NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
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NM_015295.3(SMCHD1):c.3583_3584delinsCA (p.Ser1195Gln)
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rs2143547958
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NM_015295.3(SMCHD1):c.3625A>G (p.Thr1209Ala)
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rs745810454
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NM_015295.3(SMCHD1):c.3634-10dup
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rs763101269
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NM_015295.3(SMCHD1):c.3634-1G>C
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rs886042282
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NM_015295.3(SMCHD1):c.3715C>T (p.Arg1239Cys)
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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.3730T>C (p.Phe1244Leu)
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NM_015295.3(SMCHD1):c.3763G>T (p.Ala1255Ser)
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NM_015295.3(SMCHD1):c.3787C>T (p.Pro1263Ser)
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NM_015295.3(SMCHD1):c.3788C>T (p.Pro1263Leu)
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rs2143570854
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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.3908C>A (p.Thr1303Lys)
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NM_015295.3(SMCHD1):c.3908C>G (p.Thr1303Arg)
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NM_015295.3(SMCHD1):c.4008-7_4008-3del
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rs760383946
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NM_015295.3(SMCHD1):c.4100A>G (p.Lys1367Arg)
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rs2143618974
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NM_015295.3(SMCHD1):c.4126G>A (p.Asp1376Asn)
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NM_015295.3(SMCHD1):c.4130A>G (p.Lys1377Arg)
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NM_015295.3(SMCHD1):c.4135_4137delinsACG (p.Ala1379Thr)
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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)
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rs774329481
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NM_015295.3(SMCHD1):c.4166-1G>T
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rs886042327
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NM_015295.3(SMCHD1):c.4282-5dup
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rs752013568
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NM_015295.3(SMCHD1):c.4338C>A (p.Phe1446Leu)
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NM_015295.3(SMCHD1):c.4492C>T (p.Pro1498Ser)
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rs767117563
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NM_015295.3(SMCHD1):c.4567-9dup
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rs772038791
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NM_015295.3(SMCHD1):c.4633A>G (p.Asn1545Asp)
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rs886044429
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NM_015295.3(SMCHD1):c.4638G>A (p.Glu1546=)
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rs1568336400
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NM_015295.3(SMCHD1):c.4652C>T (p.Thr1551Ile)
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NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=)
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rs757300247
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NM_015295.3(SMCHD1):c.4719+1G>A
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rs886044369
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NM_015295.3(SMCHD1):c.4738A>G (p.Ser1580Gly)
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rs886044485
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NM_015295.3(SMCHD1):c.4747G>A (p.Gly1583Arg)
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NM_015295.3(SMCHD1):c.47C>T (p.Thr16Ile)
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NM_015295.3(SMCHD1):c.4803A>G (p.Ser1601=)
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rs1568350613
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NM_015295.3(SMCHD1):c.4822A>G (p.Ile1608Val)
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NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=)
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rs774077792
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NM_015295.3(SMCHD1):c.4847-1G>T
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NM_015295.3(SMCHD1):c.488GAA[1] (p.Arg164del)
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rs1598293848
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NM_015295.3(SMCHD1):c.4915A>G (p.Met1639Val)
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rs1555651856
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NM_015295.3(SMCHD1):c.495A>G (p.Ile165Met)
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rs1555626822
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NM_015295.3(SMCHD1):c.5006G>T (p.Arg1669Leu)
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rs368367743
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NM_015295.3(SMCHD1):c.5022A>G (p.Ile1674Met)
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NM_015295.3(SMCHD1):c.5038C>G (p.Pro1680Ala)
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rs769986044
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NM_015295.3(SMCHD1):c.5064T>G (p.Ile1688Met)
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NM_015295.3(SMCHD1):c.5072T>G (p.Leu1691Arg)
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rs886043181
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NM_015295.3(SMCHD1):c.508-5C>T
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NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=)
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rs371834462
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NM_015295.3(SMCHD1):c.5142C>G (p.Asn1714Lys)
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NM_015295.3(SMCHD1):c.5164G>A (p.Val1722Ile)
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rs2075998748
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NM_015295.3(SMCHD1):c.5175G>T (p.Lys1725Asn)
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rs763696893
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NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=)
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rs1172138387
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NM_015295.3(SMCHD1):c.5279C>T (p.Ala1760Val)
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NM_015295.3(SMCHD1):c.5284C>A (p.Arg1762Ser)
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rs202006154
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NM_015295.3(SMCHD1):c.5285G>A (p.Arg1762His)
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NM_015295.3(SMCHD1):c.5416G>A (p.Asp1806Asn)
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rs886044362
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NM_015295.3(SMCHD1):c.5428G>C (p.Ala1810Pro)
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NM_015295.3(SMCHD1):c.5527G>A (p.Ala1843Thr)
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rs867875905
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NM_015295.3(SMCHD1):c.5545G>A (p.Glu1849Lys)
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NM_015295.3(SMCHD1):c.5597G>A (p.Arg1866Gln)
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rs886044586
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NM_015295.3(SMCHD1):c.5606G>A (p.Ser1869Asn)
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NM_015295.3(SMCHD1):c.5647A>G (p.Met1883Val)
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rs776598393
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NM_015295.3(SMCHD1):c.5738G>A (p.Arg1913His)
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NM_015295.3(SMCHD1):c.5743G>T (p.Ala1915Ser)
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rs1568408187
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NM_015295.3(SMCHD1):c.5757A>G (p.Leu1919=)
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rs886043263
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NM_015295.3(SMCHD1):c.5804C>G (p.Thr1935Ser)
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rs886043895
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NM_015295.3(SMCHD1):c.5858A>G (p.Lys1953Arg)
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NM_015295.3(SMCHD1):c.5878+9T>C
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rs1555658928
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NM_015295.3(SMCHD1):c.5879-3C>T
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NM_015295.3(SMCHD1):c.5879-5_5894dup
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rs1282620693
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NM_015295.3(SMCHD1):c.5893C>T (p.Arg1965Cys)
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NM_015295.3(SMCHD1):c.5894G>A (p.Arg1965His)
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NM_015295.3(SMCHD1):c.5894G>C (p.Arg1965Pro)
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rs755578313
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NM_015295.3(SMCHD1):c.5923C>T (p.Pro1975Ser)
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rs886042874
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NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=)
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rs886042374
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NM_015295.3(SMCHD1):c.599A>G (p.Tyr200Cys)
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NM_015295.3(SMCHD1):c.625G>A (p.Gly209Ser)
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NM_015295.3(SMCHD1):c.659G>C (p.Arg220Pro)
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NM_015295.3(SMCHD1):c.753+10_753+11del
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rs1167194316
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NM_015295.3(SMCHD1):c.80C>T (p.Thr27Met)
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NM_015295.3(SMCHD1):c.810A>T (p.Glu270Asp)
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NM_015295.3(SMCHD1):c.846A>G (p.Ile282Met)
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rs886044033
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NM_015295.3(SMCHD1):c.853G>A (p.Gly285Arg)
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rs1568144816
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NM_015295.3(SMCHD1):c.94G>A (p.Asp32Asn)
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NM_015295.3(SMCHD1):c.977G>A (p.Gly326Glu)
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rs2143119041
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