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.2063+20G>T
|
rs368528253
|
0.00083
|
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.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.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
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.5787A>G (p.Gln1929=)
|
rs369084979
|
0.00026
|
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.2064-9T>C
|
rs376058538
|
0.00019
|
NM_015295.3(SMCHD1):c.2774-18T>C
|
rs373552130
|
0.00019
|
NM_015295.3(SMCHD1):c.2603+16A>G
|
rs766800112
|
0.00018
|
NM_015295.3(SMCHD1):c.263-10_263-9del
|
rs779834935
|
0.00014
|
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.1297T>C (p.Leu433=)
|
rs375376651
|
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.279T>G (p.Asp93Glu)
|
rs201466122
|
0.00010
|
NM_015295.3(SMCHD1):c.2925T>A (p.Ala975=)
|
rs763236583
|
0.00010
|
NM_015295.3(SMCHD1):c.4166-7A>G
|
rs377273773
|
0.00010
|
NM_015295.3(SMCHD1):c.2458+18A>G
|
rs549402675
|
0.00009
|
NM_015295.3(SMCHD1):c.54G>C (p.Glu18Asp)
|
rs779165187
|
0.00009
|
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.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.3802-12T>C
|
rs199707863
|
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.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.288C>T (p.Thr96=)
|
rs369550628
|
0.00004
|
NM_015295.3(SMCHD1):c.333G>A (p.Thr111=)
|
rs761171049
|
0.00004
|
NM_015295.3(SMCHD1):c.3435T>C (p.Pro1145=)
|
rs747652827
|
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.5046A>G (p.Thr1682=)
|
rs886043784
|
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.1191C>T (p.Asp397=)
|
rs535674229
|
0.00003
|
NM_015295.3(SMCHD1):c.2424A>C (p.Pro808=)
|
rs374039360
|
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.4966+19A>G
|
rs778801964
|
0.00003
|
NM_015295.3(SMCHD1):c.5127G>A (p.Ser1709=)
|
rs371834462
|
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.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.297G>C (p.Leu99=)
|
rs775442569
|
0.00002
|
NM_015295.3(SMCHD1):c.3425+16_3425+18dup
|
rs1213313124
|
0.00002
|
NM_015295.3(SMCHD1):c.3732T>C (p.Phe1244=)
|
rs765602142
|
0.00002
|
NM_015295.3(SMCHD1):c.4272C>A (p.Pro1424=)
|
rs752121089
|
0.00002
|
NM_015295.3(SMCHD1):c.4282-16C>T
|
rs746082747
|
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.1132-13C>T
|
rs765394765
|
0.00001
|
NM_015295.3(SMCHD1):c.1581G>A (p.Thr527=)
|
rs761176866
|
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.2433T>G (p.Ser811=)
|
rs760899591
|
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.2577T>C (p.Thr859=)
|
rs1408054045
|
0.00001
|
NM_015295.3(SMCHD1):c.263-12T>C
|
rs1173742117
|
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.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.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.3654T>C (p.Ser1218=)
|
rs1346924634
|
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.4166-9C>T
|
rs778265654
|
0.00001
|
NM_015295.3(SMCHD1):c.4452G>C (p.Leu1484=)
|
rs373559293
|
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.45G>A (p.Gly15=)
|
rs756352980
|
0.00001
|
NM_015295.3(SMCHD1):c.4752G>A (p.Arg1584=)
|
rs779960156
|
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.5547+19T>C
|
rs764978818
|
0.00001
|
NM_015295.3(SMCHD1):c.5547+20T>C
|
rs565471829
|
0.00001
|
NM_015295.3(SMCHD1):c.5937G>A (p.Thr1979=)
|
rs776794549
|
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.90G>A (p.Leu30=)
|
rs1555622278
|
0.00001
|
NM_015295.3(SMCHD1):c.954C>T (p.Ser318=)
|
rs769558309
|
0.00001
|
NM_015295.3(SMCHD1):c.1003T>C (p.Leu335=)
|
|
|
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.105A>G (p.Glu35=)
|
|
|
NM_015295.3(SMCHD1):c.1131+16A>T
|
rs7235096
|
|
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.114C>A (p.Ser38=)
|
|
|
NM_015295.3(SMCHD1):c.114C>G (p.Ser38=)
|
rs191609659
|
|
NM_015295.3(SMCHD1):c.1152G>A (p.Gly384=)
|
|
|
NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=)
|
rs778279069
|
|
NM_015295.3(SMCHD1):c.1173C>T (p.Asn391=)
|
rs771879056
|
|
NM_015295.3(SMCHD1):c.120C>T (p.Leu40=)
|
|
|
NM_015295.3(SMCHD1):c.1239C>T (p.Phe413=)
|
rs2074318840
|
|
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.1374T>C (p.Cys458=)
|
|
|
NM_015295.3(SMCHD1):c.1395T>C (p.Ala465=)
|
|
|
NM_015295.3(SMCHD1):c.1401G>A (p.Gly467=)
|
|
|
NM_015295.3(SMCHD1):c.1446A>G (p.Pro482=)
|
rs754277921
|
|
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.1503A>G (p.Ala501=)
|
|
|
NM_015295.3(SMCHD1):c.1548T>C (p.Asn516=)
|
|
|
NM_015295.3(SMCHD1):c.15C>T (p.Asp5=)
|
|
|
NM_015295.3(SMCHD1):c.162G>A (p.Ala54=)
|
rs766395572
|
|
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)
|
rs766395572
|
|
NM_015295.3(SMCHD1):c.1647+16A>G
|
rs2143185143
|
|
NM_015295.3(SMCHD1):c.1648-4A>G
|
|
|
NM_015295.3(SMCHD1):c.1818A>G (p.Gly606=)
|
rs1360515676
|
|
NM_015295.3(SMCHD1):c.1843-12dup
|
rs556665119
|
|
NM_015295.3(SMCHD1):c.1843-16A>G
|
rs569911568
|
|
NM_015295.3(SMCHD1):c.1843-18_1843-17inv
|
|
|
NM_015295.3(SMCHD1):c.1843-8_1843-5del
|
rs765362255
|
|
NM_015295.3(SMCHD1):c.187-14C>T
|
|
|
NM_015295.3(SMCHD1):c.187-7T>C
|
|
|
NM_015295.3(SMCHD1):c.189A>T (p.Thr63=)
|
|
|
NM_015295.3(SMCHD1):c.1908T>C (p.Asp636=)
|
|
|
NM_015295.3(SMCHD1):c.1911T>C (p.His637=)
|
rs2143234263
|
|
NM_015295.3(SMCHD1):c.1932A>T (p.Thr644=)
|
rs930570856
|
|
NM_015295.3(SMCHD1):c.1956+9G>A
|
|
|
NM_015295.3(SMCHD1):c.2004G>A (p.Lys668=)
|
|
|
NM_015295.3(SMCHD1):c.2043T>C (p.Tyr681=)
|
|
|
NM_015295.3(SMCHD1):c.2063+19T>C
|
|
|
NM_015295.3(SMCHD1):c.2064-8C>T
|
|
|
NM_015295.3(SMCHD1):c.2109A>G (p.Leu703=)
|
|
|
NM_015295.3(SMCHD1):c.2112G>A (p.Leu704=)
|
|
|
NM_015295.3(SMCHD1):c.2142T>A (p.Pro714=)
|
rs2074549685
|
|
NM_015295.3(SMCHD1):c.2147-16A>G
|
|
|
NM_015295.3(SMCHD1):c.2166A>C (p.Ile722=)
|
|
|
NM_015295.3(SMCHD1):c.2169G>A (p.Leu723=)
|
rs746090352
|
|
NM_015295.3(SMCHD1):c.2232C>A (p.Leu744=)
|
|
|
NM_015295.3(SMCHD1):c.2260+12A>G
|
|
|
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.2338+14C>T
|
|
|
NM_015295.3(SMCHD1):c.2338+17A>C
|
|
|
NM_015295.3(SMCHD1):c.2358G>T (p.Gly786=)
|
|
|
NM_015295.3(SMCHD1):c.2364T>C (p.Tyr788=)
|
|
|
NM_015295.3(SMCHD1):c.2424A>G (p.Pro808=)
|
|
|
NM_015295.3(SMCHD1):c.2458+19T>C
|
|
|
NM_015295.3(SMCHD1):c.2458+20A>G
|
|
|
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.24G>T (p.Gly8=)
|
|
|
NM_015295.3(SMCHD1):c.2514A>G (p.Gly838=)
|
|
|
NM_015295.3(SMCHD1):c.2529C>T (p.Ile843=)
|
|
|
NM_015295.3(SMCHD1):c.2603+11G>T
|
|
|
NM_015295.3(SMCHD1):c.2604-14T>C
|
rs1199638838
|
|
NM_015295.3(SMCHD1):c.2604-15A>T
|
|
|
NM_015295.3(SMCHD1):c.2604-5C>T
|
|
|
NM_015295.3(SMCHD1):c.262+18C>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.2664T>C (p.Val888=)
|
|
|
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
|
|
|
NM_015295.3(SMCHD1):c.2700+15T>C
|
|
|
NM_015295.3(SMCHD1):c.2701-16T>G
|
|
|
NM_015295.3(SMCHD1):c.2767C>T (p.Leu923=)
|
|
|
NM_015295.3(SMCHD1):c.2769A>G (p.Leu923=)
|
|
|
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.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.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.2871A>G (p.Ser957=)
|
|
|
NM_015295.3(SMCHD1):c.2877_2878inv (p.Ile960Val)
|
|
|
NM_015295.3(SMCHD1):c.288C>G (p.Thr96=)
|
rs369550628
|
|
NM_015295.3(SMCHD1):c.2896T>C (p.Leu966=)
|
|
|
NM_015295.3(SMCHD1):c.2914-11C>T
|
rs1339481816
|
|
NM_015295.3(SMCHD1):c.2914-8T>C
|
rs886043095
|
|
NM_015295.3(SMCHD1):c.2982A>C (p.Thr994=)
|
rs1435103613
|
|
NM_015295.3(SMCHD1):c.3033A>C (p.Ala1011=)
|
|
|
NM_015295.3(SMCHD1):c.3033A>T (p.Ala1011=)
|
rs2075091813
|
|
NM_015295.3(SMCHD1):c.3048+17A>G
|
|
|
NM_015295.3(SMCHD1):c.3048+19del
|
|
|
NM_015295.3(SMCHD1):c.3049-10C>T
|
|
|
NM_015295.3(SMCHD1):c.3049-13C>T
|
|
|
NM_015295.3(SMCHD1):c.318A>G (p.Leu106=)
|
rs2143805753
|
|
NM_015295.3(SMCHD1):c.319C>T (p.Leu107=)
|
rs769766392
|
|
NM_015295.3(SMCHD1):c.3252A>C (p.Thr1084=)
|
|
|
NM_015295.3(SMCHD1):c.3276+20T>G
|
|
|
NM_015295.3(SMCHD1):c.3277-11T>C
|
|
|
NM_015295.3(SMCHD1):c.3297T>C (p.Ile1099=)
|
|
|
NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=)
|
rs747331582
|
|
NM_015295.3(SMCHD1):c.3393T>C (p.Asp1131=)
|
|
|
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.3444T>A (p.Pro1148=)
|
rs76290319
|
|
NM_015295.3(SMCHD1):c.3451T>C (p.Leu1151=)
|
rs759659672
|
|
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.3600A>G (p.Gly1200=)
|
|
|
NM_015295.3(SMCHD1):c.3633+10C>G
|
|
|
NM_015295.3(SMCHD1):c.3633+10_3633+16del
|
rs1555644751
|
|
NM_015295.3(SMCHD1):c.3634-20A>G
|
|
|
NM_015295.3(SMCHD1):c.369A>G (p.Thr123=)
|
|
|
NM_015295.3(SMCHD1):c.3708T>C (p.Phe1236=)
|
|
|
NM_015295.3(SMCHD1):c.3774C>T (p.Leu1258=)
|
rs1598395228
|
|
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.3804C>T (p.Ser1268=)
|
rs1598399244
|
|
NM_015295.3(SMCHD1):c.3831A>G (p.Leu1277=)
|
rs2075479218
|
|
NM_015295.3(SMCHD1):c.3852A>G (p.Gln1284=)
|
|
|
NM_015295.3(SMCHD1):c.3882G>A (p.Pro1294=)
|
|
|
NM_015295.3(SMCHD1):c.3927+16C>T
|
rs1238138673
|
|
NM_015295.3(SMCHD1):c.3928-23_3928-19del
|
|
|
NM_015295.3(SMCHD1):c.4007+13A>G
|
|
|
NM_015295.3(SMCHD1):c.4007+19A>G
|
|
|
NM_015295.3(SMCHD1):c.4008-7_4008-3del
|
rs760383946
|
|
NM_015295.3(SMCHD1):c.4008-7_4008-6del
|
|
|
NM_015295.3(SMCHD1):c.408A>G (p.Glu136=)
|
rs1057519643
|
|
NM_015295.3(SMCHD1):c.4165+17C>A
|
|
|
NM_015295.3(SMCHD1):c.4166-15C>T
|
rs753246346
|
|
NM_015295.3(SMCHD1):c.420T>G (p.Pro140=)
|
rs2143806315
|
|
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.425-7C>T
|
rs1182600898
|
|
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.4282-5dup
|
rs752013568
|
|
NM_015295.3(SMCHD1):c.4282-8C>G
|
|
|
NM_015295.3(SMCHD1):c.432T>A (p.Ala144=)
|
rs1017630458
|
|
NM_015295.3(SMCHD1):c.4346+14C>T
|
|
|
NM_015295.3(SMCHD1):c.4347-19_4347-15del
|
rs2143682631
|
|
NM_015295.3(SMCHD1):c.438G>A (p.Ala146=)
|
|
|
NM_015295.3(SMCHD1):c.441A>G (p.Glu147=)
|
|
|
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+9A>G
|
|
|
NM_015295.3(SMCHD1):c.4435-15C>A
|
|
|
NM_015295.3(SMCHD1):c.4435-5G>A
|
|
|
NM_015295.3(SMCHD1):c.4443T>C (p.Val1481=)
|
rs369643056
|
|
NM_015295.3(SMCHD1):c.4452G>A (p.Leu1484=)
|
|
|
NM_015295.3(SMCHD1):c.4470G>A (p.Lys1490=)
|
|
|
NM_015295.3(SMCHD1):c.4494T>C (p.Pro1498=)
|
|
|
NM_015295.3(SMCHD1):c.4524T>A (p.Val1508=)
|
|
|
NM_015295.3(SMCHD1):c.4566+11T>C
|
|
|
NM_015295.3(SMCHD1):c.4566+20A>G
|
|
|
NM_015295.3(SMCHD1):c.4680A>G (p.Thr1560=)
|
|
|
NM_015295.3(SMCHD1):c.4707G>A (p.Ser1569=)
|
|
|
NM_015295.3(SMCHD1):c.4719+14A>G
|
|
|
NM_015295.3(SMCHD1):c.4719+16C>A
|
|
|
NM_015295.3(SMCHD1):c.471T>C (p.Ser157=)
|
|
|
NM_015295.3(SMCHD1):c.4720-10A>G
|
|
|
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.4827A>G (p.Leu1609=)
|
rs774077792
|
|
NM_015295.3(SMCHD1):c.4830G>A (p.Pro1610=)
|
|
|
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.4863A>G (p.Gln1621=)
|
|
|
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.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.5001A>G (p.Gln1667=)
|
rs777769712
|
|
NM_015295.3(SMCHD1):c.5002T>C (p.Leu1668=)
|
rs746740103
|
|
NM_015295.3(SMCHD1):c.5052+19C>T
|
|
|
NM_015295.3(SMCHD1):c.5052+20G>T
|
rs762065052
|
|
NM_015295.3(SMCHD1):c.5053-10T>A
|
rs1598429596
|
|
NM_015295.3(SMCHD1):c.505T>C (p.Leu169=)
|
|
|
NM_015295.3(SMCHD1):c.507+16T>C
|
|
|
NM_015295.3(SMCHD1):c.507+17G>A
|
rs771404268
|
|
NM_015295.3(SMCHD1):c.5079A>G (p.Lys1693=)
|
rs2143751963
|
|
NM_015295.3(SMCHD1):c.508-13T>C
|
|
|
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=)
|
rs371834462
|
|
NM_015295.3(SMCHD1):c.5175+11A>G
|
|
|
NM_015295.3(SMCHD1):c.5175+14A>G
|
|
|
NM_015295.3(SMCHD1):c.5176-16T>C
|
|
|
NM_015295.3(SMCHD1):c.5176-20T>C
|
|
|
NM_015295.3(SMCHD1):c.5202T>C (p.Asp1734=)
|
|
|
NM_015295.3(SMCHD1):c.5214G>A (p.Ala1738=)
|
|
|
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=)
|
rs1172138387
|
|
NM_015295.3(SMCHD1):c.5325C>T (p.Pro1775=)
|
rs2143771828
|
|
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.5367-10T>C
|
|
|
NM_015295.3(SMCHD1):c.5367-12C>T
|
|
|
NM_015295.3(SMCHD1):c.5367-14T>G
|
|
|
NM_015295.3(SMCHD1):c.5367-7T>C
|
|
|
NM_015295.3(SMCHD1):c.5391A>C (p.Gly1797=)
|
rs2143783601
|
|
NM_015295.3(SMCHD1):c.5409C>T (p.Pro1803=)
|
|
|
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+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.5548-10T>C
|
|
|
NM_015295.3(SMCHD1):c.555T>C (p.Asn185=)
|
rs1451229050
|
|
NM_015295.3(SMCHD1):c.5613A>G (p.Gly1871=)
|
|
|
NM_015295.3(SMCHD1):c.5697T>C (p.Cys1899=)
|
rs2143815572
|
|
NM_015295.3(SMCHD1):c.5719+9A>C
|
|
|
NM_015295.3(SMCHD1):c.5720-4A>G
|
|
|
NM_015295.3(SMCHD1):c.5720-5T>C
|
|
|
NM_015295.3(SMCHD1):c.5730G>A (p.Gln1910=)
|
|
|
NM_015295.3(SMCHD1):c.573T>A (p.Ser191=)
|
|
|
NM_015295.3(SMCHD1):c.5808G>A (p.Pro1936=)
|
|
|
NM_015295.3(SMCHD1):c.5860C>T (p.Leu1954=)
|
|
|
NM_015295.3(SMCHD1):c.5878+17T>C
|
|
|
NM_015295.3(SMCHD1):c.5879-20T>C
|
|
|
NM_015295.3(SMCHD1):c.5879-7T>G
|
|
|
NM_015295.3(SMCHD1):c.5889C>A (p.Pro1963=)
|
rs2143862551
|
|
NM_015295.3(SMCHD1):c.5925A>G (p.Pro1975=)
|
|
|
NM_015295.3(SMCHD1):c.594C>G (p.Ala198=)
|
|
|
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.5991T>C (p.Asn1997=)
|
|
|
NM_015295.3(SMCHD1):c.5993+3_5993+7dup
|
|
|
NM_015295.3(SMCHD1):c.5994-12C>G
|
rs2076382342
|
|
NM_015295.3(SMCHD1):c.5994-6G>C
|
|
|
NM_015295.3(SMCHD1):c.6012T>C (p.Asp2004=)
|
|
|
NM_015295.3(SMCHD1):c.638+14_638+17del
|
rs763531102
|
|
NM_015295.3(SMCHD1):c.638+17T>C
|
|
|
NM_015295.3(SMCHD1):c.639-20G>A
|
rs973692034
|
|
NM_015295.3(SMCHD1):c.714G>A (p.Gly238=)
|
|
|
NM_015295.3(SMCHD1):c.714G>C (p.Gly238=)
|
|
|
NM_015295.3(SMCHD1):c.753+7A>G
|
|
|
NM_015295.3(SMCHD1):c.754-14_754-13del
|
|
|
NM_015295.3(SMCHD1):c.837A>G (p.Lys279=)
|
|
|
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+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.882T>C (p.Asp294=)
|
|
|
NM_015295.3(SMCHD1):c.885T>A (p.Ser295=)
|
|
|
NM_015295.3(SMCHD1):c.963T>C (p.Ala321=)
|
rs2143118993
|
|
NM_015295.3(SMCHD1):c.990A>G (p.Glu330=)
|
rs1001785728
|
|