NM_005445.4(SMC3):c.3039A>G (p.Ser1013=)
|
rs2419565
|
0.98861
|
NM_006306.4(SMC1A):c.-19C>T
|
rs1264011
|
0.42752
|
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)
|
rs61748200
|
0.13068
|
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
|
rs3822471
|
0.12117
|
NM_005445.4(SMC3):c.970-8G>A
|
rs11195199
|
0.11151
|
NM_005445.4(SMC3):c.351-9T>C
|
rs78663177
|
0.06159
|
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=)
|
rs75323904
|
0.06157
|
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)
|
rs293756
|
0.03533
|
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)
|
rs1669445
|
0.03530
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
NM_133433.4(NIPBL):c.4240-14T>G
|
rs298972
|
0.01903
|
NM_006306.4(SMC1A):c.*5481G>A
|
rs147896900
|
0.01746
|
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)
|
rs16903425
|
0.01529
|
NM_006306.4(SMC1A):c.412-10C>T
|
rs149219651
|
0.01511
|
NM_006306.4(SMC1A):c.*96C>T
|
rs139317060
|
0.01188
|
NM_006306.4(SMC1A):c.*3838G>A
|
rs144702614
|
0.01053
|
NM_006306.4(SMC1A):c.*2973C>T
|
rs56110615
|
0.01037
|
NM_005445.4(SMC3):c.*158G>A
|
rs183542538
|
0.01009
|
NM_006306.4(SMC1A):c.*2423G>A
|
rs147324052
|
0.00991
|
NM_005445.4(SMC3):c.1092-8T>G
|
rs79912955
|
0.00975
|
NM_133433.4(NIPBL):c.3121+11T>G
|
rs457583
|
0.00941
|
NM_006306.4(SMC1A):c.*5016T>C
|
rs17002602
|
0.00919
|
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=)
|
rs35748854
|
0.00882
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00852
|
NM_006306.4(SMC1A):c.*2389G>T
|
rs114329529
|
0.00775
|
NM_006306.4(SMC1A):c.*5380G>A
|
rs186354950
|
0.00739
|
NM_006306.4(SMC1A):c.*4645T>C
|
rs150365487
|
0.00678
|
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470
|
0.00501
|
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)
|
rs7052858
|
0.00452
|
NM_006306.4(SMC1A):c.*14C>T
|
rs112727682
|
0.00436
|
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)
|
rs75817442
|
0.00402
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00354
|
NM_005445.4(SMC3):c.*332A>G
|
rs117538515
|
0.00334
|
NM_006306.4(SMC1A):c.*4952_*4953del
|
rs782700101
|
0.00325
|
NM_006306.4(SMC1A):c.*4887T>C
|
rs142173620
|
0.00318
|
NM_006306.4(SMC1A):c.*3421G>T
|
rs41304780
|
0.00288
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
NM_133433.4(NIPBL):c.-312T>A
|
rs540966156
|
0.00284
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_006306.4(SMC1A):c.*1542T>C
|
rs781783328
|
0.00263
|
NM_006306.4(SMC1A):c.1254+11G>C
|
rs144354524
|
0.00258
|
NM_133433.4(NIPBL):c.4320+14A>G
|
rs377381536
|
0.00186
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)
|
rs142611198
|
0.00183
|
NM_005445.4(SMC3):c.*297T>A
|
rs188322637
|
0.00157
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)
|
rs147463420
|
0.00135
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_005445.4(SMC3):c.*329C>T
|
rs182524436
|
0.00123
|
NM_005445.4(SMC3):c.-74C>A
|
rs376252081
|
0.00122
|
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)
|
rs140100861
|
0.00095
|
NM_006306.4(SMC1A):c.*2609A>C
|
rs192734396
|
0.00092
|
NM_005445.4(SMC3):c.276T>C (p.Asp92=)
|
rs199936534
|
0.00073
|
NM_006306.4(SMC1A):c.*2435T>G
|
rs782650092
|
0.00062
|
NM_006306.4(SMC1A):c.*488A>G
|
rs956422392
|
0.00061
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)
|
rs142524280
|
0.00057
|
NM_133433.4(NIPBL):c.-243A>C
|
rs544681871
|
0.00057
|
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)
|
rs148542094
|
0.00056
|
NM_006306.4(SMC1A):c.*4382A>G
|
rs906340789
|
0.00055
|
NM_006306.4(SMC1A):c.*5444G>A
|
rs181871602
|
0.00055
|
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)
|
rs146216425
|
0.00051
|
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)
|
rs145952190
|
0.00051
|
NM_006306.4(SMC1A):c.*4443G>A
|
rs782630117
|
0.00050
|
NM_006306.4(SMC1A):c.*5355G>A
|
rs782143840
|
0.00050
|
NM_133433.4(NIPBL):c.5709+4G>A
|
rs370325589
|
0.00050
|
NM_006306.4(SMC1A):c.*2948G>T
|
rs183355603
|
0.00049
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
NM_006306.4(SMC1A):c.*5489G>T
|
rs1007398058
|
0.00040
|
NM_133433.4(NIPBL):c.*334G>A
|
rs181989563
|
0.00040
|
NM_133433.4(NIPBL):c.5011-13A>G
|
rs13177643
|
0.00038
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
NM_006306.4(SMC1A):c.*1961C>T
|
rs986586627
|
0.00036
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_005445.4(SMC3):c.*304T>G
|
rs755315364
|
0.00035
|
NM_005445.4(SMC3):c.*17A>G
|
rs199611616
|
0.00032
|
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile)
|
rs147743879
|
0.00032
|
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)
|
rs142703446
|
0.00029
|
NM_006306.4(SMC1A):c.*578C>T
|
rs782042924
|
0.00028
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_006306.4(SMC1A):c.*1239T>C
|
rs782502306
|
0.00023
|
NM_006306.4(SMC1A):c.*3851A>T
|
rs782817464
|
0.00023
|
NM_006306.4(SMC1A):c.*5946C>T
|
rs972532010
|
0.00021
|
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)
|
rs147952638
|
0.00019
|
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=)
|
rs116049172
|
0.00019
|
NM_006306.4(SMC1A):c.*2856A>T
|
rs148128199
|
0.00018
|
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)
|
rs376637245
|
0.00016
|
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)
|
rs200440893
|
0.00014
|
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)
|
rs139177541
|
0.00014
|
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln)
|
rs201162818
|
0.00013
|
NM_006306.4(SMC1A):c.*3777C>G
|
rs41315082
|
0.00013
|
NM_133433.4(NIPBL):c.-307C>T
|
rs377354585
|
0.00013
|
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=)
|
rs149186951
|
0.00013
|
NM_005445.4(SMC3):c.2782C>A (p.Arg928=)
|
rs202034783
|
0.00011
|
NM_006306.4(SMC1A):c.*381A>G
|
rs184957599
|
0.00011
|
NM_133433.4(NIPBL):c.-265A>G
|
rs879291582
|
0.00011
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
NM_006306.4(SMC1A):c.*1914A>G
|
rs964056946
|
0.00010
|
NM_006306.4(SMC1A):c.*3025C>T
|
rs782139355
|
0.00010
|
NM_006306.4(SMC1A):c.*348C>T
|
rs782700234
|
0.00010
|
NM_133433.4(NIPBL):c.4776+12G>A
|
rs199632698
|
0.00010
|
NM_005445.4(SMC3):c.970-14T>C
|
rs200511874
|
0.00009
|
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)
|
rs2291703
|
0.00009
|
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=)
|
rs749296628
|
0.00009
|
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)
|
rs147865925
|
0.00008
|
NM_006306.4(SMC1A):c.*2540C>G
|
rs182535846
|
0.00007
|
NM_006306.4(SMC1A):c.*2589A>G
|
rs782291666
|
0.00007
|
NM_005445.4(SMC3):c.-115T>C
|
rs886046691
|
0.00006
|
NM_005445.4(SMC3):c.1670+6_1670+7insAAC
|
rs766155607
|
0.00006
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00006
|
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)
|
rs376448686
|
0.00006
|
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=)
|
rs398124470
|
0.00006
|
NM_006306.4(SMC1A):c.*1040G>A
|
rs79382603
|
0.00005
|
NM_006306.4(SMC1A):c.*2050T>C
|
rs1057515964
|
0.00005
|
NM_006306.4(SMC1A):c.*2225G>A
|
rs1047323522
|
0.00005
|
NM_006306.4(SMC1A):c.*4998T>C
|
rs899071356
|
0.00005
|
NM_133433.4(NIPBL):c.*551G>C
|
rs760747084
|
0.00005
|
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala)
|
rs773534683
|
0.00005
|
NM_005445.4(SMC3):c.2268+4C>T
|
rs587784426
|
0.00004
|
NM_006306.4(SMC1A):c.*2663C>T
|
rs1057515961
|
0.00004
|
NM_006306.4(SMC1A):c.*4156A>G
|
rs999754790
|
0.00004
|
NM_006306.4(SMC1A):c.*703G>T
|
rs189126241
|
0.00004
|
NM_133433.4(NIPBL):c.-410C>T
|
rs886060554
|
0.00004
|
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)
|
rs150837768
|
0.00004
|
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val)
|
rs749926228
|
0.00004
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
NM_133433.4(NIPBL):c.689A>G (p.Asn230Ser)
|
rs369282785
|
0.00004
|
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys)
|
rs587784058
|
0.00004
|
NM_005445.3(SMC3):c.-135G>A
|
rs17127559
|
0.00003
|
NM_005445.4(SMC3):c.198+7G>A
|
rs765985488
|
0.00003
|
NM_005445.4(SMC3):c.2589A>G (p.Thr863=)
|
rs768482776
|
0.00003
|
NM_006306.4(SMC1A):c.*4087G>A
|
rs1057515957
|
0.00003
|
NM_006306.4(SMC1A):c.*4581T>C
|
rs1057515955
|
0.00003
|
NM_006306.4(SMC1A):c.*675A>G
|
rs1415804526
|
0.00003
|
NM_133433.4(NIPBL):c.*32A>T
|
rs758539444
|
0.00003
|
NM_133433.4(NIPBL):c.*545A>G
|
rs886060566
|
0.00003
|
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr)
|
rs201482152
|
0.00003
|
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=)
|
rs371566938
|
0.00003
|
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln)
|
rs61755039
|
0.00003
|
NM_133433.4(NIPBL):c.8139T>C (p.Ile2713=)
|
rs1187325987
|
0.00003
|
NM_005445.3(SMC3):c.-130G>A
|
rs559499419
|
0.00002
|
NM_005445.4(SMC3):c.*327G>C
|
rs1030439322
|
0.00002
|
NM_005445.4(SMC3):c.-65T>A
|
rs886046692
|
0.00002
|
NM_005445.4(SMC3):c.2656T>G (p.Ser886Ala)
|
rs775665831
|
0.00002
|
NM_005445.4(SMC3):c.369C>T (p.Asn123=)
|
rs779773957
|
0.00002
|
NM_006306.4(SMC1A):c.*1934T>C
|
rs1311438037
|
0.00002
|
NM_006306.4(SMC1A):c.*3484G>A
|
rs1215730078
|
0.00002
|
NM_006306.4(SMC1A):c.*4367T>C
|
rs1003358509
|
0.00002
|
NM_006306.4(SMC1A):c.*5197T>C
|
rs782050365
|
0.00002
|
NM_006306.4(SMC1A):c.-7G>A
|
rs1368401429
|
0.00002
|
NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val)
|
rs141010980
|
0.00002
|
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=)
|
rs373206831
|
0.00002
|
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys)
|
rs780708835
|
0.00002
|
NM_005445.4(SMC3):c.*228C>T
|
rs1486030712
|
0.00001
|
NM_005445.4(SMC3):c.-90G>A
|
rs1333533101
|
0.00001
|
NM_005445.4(SMC3):c.1671-4T>C
|
rs201392611
|
0.00001
|
NM_005445.4(SMC3):c.1998G>C (p.Gly666=)
|
rs142669130
|
0.00001
|
NM_005445.4(SMC3):c.2163C>T (p.Ile721=)
|
rs1193209124
|
0.00001
|
NM_005445.4(SMC3):c.2645-8C>T
|
rs886046695
|
0.00001
|
NM_005445.4(SMC3):c.3321T>C (p.Gly1107=)
|
rs184870066
|
0.00001
|
NM_006306.4(SMC1A):c.*2086T>C
|
rs1173339282
|
0.00001
|
NM_006306.4(SMC1A):c.*3596C>T
|
rs2075560234
|
0.00001
|
NM_006306.4(SMC1A):c.*3671C>T
|
rs1057515959
|
0.00001
|
NM_006306.4(SMC1A):c.*41G>A
|
rs782548345
|
0.00001
|
NM_006306.4(SMC1A):c.*5251G>T
|
rs188308804
|
0.00001
|
NM_006306.4(SMC1A):c.*5451A>G
|
rs782308559
|
0.00001
|
NM_006306.4(SMC1A):c.*5692G>A
|
rs1057515952
|
0.00001
|
NM_006306.4(SMC1A):c.*5855G>T
|
rs1289923605
|
0.00001
|
NM_006306.4(SMC1A):c.*931A>G
|
rs782237045
|
0.00001
|
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
|
rs782292864
|
0.00001
|
NM_133433.4(NIPBL):c.*351G>A
|
rs185780527
|
0.00001
|
NM_133433.4(NIPBL):c.-379G>A
|
rs886060555
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
NM_133433.4(NIPBL):c.1593G>A (p.Thr531=)
|
rs760769176
|
0.00001
|
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser)
|
rs144289137
|
0.00001
|
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln)
|
rs757394370
|
0.00001
|
NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=)
|
rs765887558
|
0.00001
|
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp)
|
rs376768802
|
0.00001
|
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)
|
rs571024836
|
0.00001
|
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser)
|
rs761353689
|
0.00001
|
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=)
|
rs143252734
|
0.00001
|
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile)
|
rs775077572
|
0.00001
|
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=)
|
rs886060559
|
0.00001
|
NM_133433.4(NIPBL):c.7411-15G>A
|
rs374348403
|
0.00001
|
NM_001281463.1(SMC1A):c.-275G>T
|
rs1026058160
|
|
NM_005445.3(SMC3):c.-136A>G
|
rs994198170
|
|
NM_005445.4(SMC3):c.*12T>A
|
rs1861435243
|
|
NM_005445.4(SMC3):c.*298del
|
rs886046697
|
|
NM_005445.4(SMC3):c.*36A>G
|
rs1861435668
|
|
NM_005445.4(SMC3):c.*50C>G
|
rs368890227
|
|
NM_005445.4(SMC3):c.*77C>T
|
rs886046696
|
|
NM_005445.4(SMC3):c.-92G>T
|
rs558632292
|
|
NM_005445.4(SMC3):c.-99C>A
|
rs148267784
|
|
NM_005445.4(SMC3):c.1330G>A (p.Val444Ile)
|
rs1861177028
|
|
NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys)
|
rs1861180589
|
|
NM_005445.4(SMC3):c.1558C>A (p.Arg520Ser)
|
rs768778247
|
|
NM_005445.4(SMC3):c.1890T>A (p.Thr630=)
|
rs79046607
|
|
NM_005445.4(SMC3):c.198+3G>A
|
rs533706811
|
|
NM_005445.4(SMC3):c.2085G>A (p.Lys695=)
|
rs886046694
|
|
NM_005445.4(SMC3):c.2268+13A>G
|
rs755422141
|
|
NM_005445.4(SMC3):c.2406T>C (p.Asp802=)
|
rs934660926
|
|
NM_005445.4(SMC3):c.2472T>C (p.Ile824=)
|
rs1861369074
|
|
NM_005445.4(SMC3):c.2535+28del
|
rs397847637
|
|
NM_005445.4(SMC3):c.2535+28dup
|
rs397847637
|
|
NM_005445.4(SMC3):c.2892+9T>C
|
rs1861393233
|
|
NM_005445.4(SMC3):c.3147T>C (p.Pro1049=)
|
rs1861402400
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
NM_005445.4(SMC3):c.723+4A>T
|
rs886046693
|
|
NM_005445.4(SMC3):c.724-6dup
|
rs11380915
|
|
NM_005445.4(SMC3):c.929A>G (p.Lys310Arg)
|
rs1861062802
|
|
NM_006265.3(RAD21):c.233_234del (p.Asp77_Cys78insTer)
|
rs2130479407
|
|
NM_006265.3(RAD21):c.850G>A (p.Val284Ile)
|
rs760261220
|
|
NM_006306.4(SMC1A):c.*1028C>T
|
rs1057515967
|
|
NM_006306.4(SMC1A):c.*1240A>G
|
rs1057515966
|
|
NM_006306.4(SMC1A):c.*1559G>A
|
rs782736361
|
|
NM_006306.4(SMC1A):c.*1967C>T
|
rs2075567451
|
|
NM_006306.4(SMC1A):c.*2490T>C
|
rs1057515962
|
|
NM_006306.4(SMC1A):c.*2936C>T
|
rs782494133
|
|
NM_006306.4(SMC1A):c.*3087G>A
|
rs782024964
|
|
NM_006306.4(SMC1A):c.*3305A>G
|
rs1057515960
|
|
NM_006306.4(SMC1A):c.*3392T>C
|
rs2075561045
|
|
NM_006306.4(SMC1A):c.*3807G>A
|
rs1057515958
|
|
NM_006306.4(SMC1A):c.*5051G>T
|
rs2075555081
|
|
NM_006306.4(SMC1A):c.*5352C>T
|
rs1057515953
|
|
NM_006306.4(SMC1A):c.*5443C>G
|
rs375348750
|
|
NM_006306.4(SMC1A):c.*5506A>T
|
rs2075553176
|
|
NM_006306.4(SMC1A):c.*5722A>T
|
rs2075552232
|
|
NM_006306.4(SMC1A):c.*5853A>G
|
rs2075551728
|
|
NM_006306.4(SMC1A):c.*5915T>C
|
rs1057515951
|
|
NM_006306.4(SMC1A):c.*626A>G
|
rs1057515970
|
|
NM_006306.4(SMC1A):c.*665A>G
|
rs1057515969
|
|
NM_006306.4(SMC1A):c.*817ACAG[1]
|
rs1057515968
|
|
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)
|
rs2075703211
|
|
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe)
|
rs2075687166
|
|
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=)
|
rs2075686281
|
|
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
|
rs186510389
|
|
NM_006306.4(SMC1A):c.3131-13T>G
|
rs1273874101
|
|
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)
|
rs2075586377
|
|
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
|
rs782763816
|
|
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)
|
rs370671274
|
|
NM_018486.3(HDAC8):c.296-13T>G
|
|
|
NM_133433.4(NIPBL):c.*142G>C
|
rs886060562
|
|
NM_133433.4(NIPBL):c.*265_*266del
|
rs886060563
|
|
NM_133433.4(NIPBL):c.*282_*285del
|
rs535770794
|
|
NM_133433.4(NIPBL):c.*354T>C
|
rs1755262500
|
|
NM_133433.4(NIPBL):c.*460del
|
rs768908921
|
|
NM_133433.4(NIPBL):c.*742_*743del
|
rs886060567
|
|
NM_133433.4(NIPBL):c.*84dup
|
rs587783876
|
|
NM_133433.4(NIPBL):c.-153dup
|
rs567891305
|
|
NM_133433.4(NIPBL):c.-338C>T
|
rs886060556
|
|
NM_133433.4(NIPBL):c.-416dup
|
rs886060553
|
|
NM_133433.4(NIPBL):c.-424T>C
|
rs886060552
|
|
NM_133433.4(NIPBL):c.-428G>C
|
rs886060551
|
|
NM_133433.4(NIPBL):c.-429del
|
rs376839773
|
|
NM_133433.4(NIPBL):c.-80+11G>C
|
rs1257470313
|
|
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg)
|
rs1743395526
|
|
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)
|
rs746183321
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)
|
rs80358365
|
|
NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr)
|
rs1744758389
|
|
NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val)
|
rs1747443386
|
|
NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn)
|
rs1741623090
|
|
NM_133433.4(NIPBL):c.4321-15A>G
|
rs587783946
|
|
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln)
|
rs886060558
|
|
NM_133433.4(NIPBL):c.5710-13C>T
|
rs562131143
|
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
|
NM_133433.4(NIPBL):c.6369A>T (p.Gln2123His)
|
rs369295272
|
|
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=)
|
rs777430704
|
|
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys)
|
rs1561224805
|
|
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu)
|
rs886060560
|
|
NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser)
|
rs886060561
|
|
NM_133433.4(NIPBL):c.873A>C (p.Ser291=)
|
rs1743370604
|
|