NM_001271.4(CHD2):c.2049A>G (p.Glu683=)
|
rs4777755
|
0.77324
|
NM_001271.4(CHD2):c.2718A>G (p.Gln906=)
|
rs11074121
|
0.75493
|
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=)
|
rs12906163
|
0.28315
|
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=)
|
rs2272457
|
0.23362
|
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=)
|
rs34315566
|
0.04350
|
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala)
|
rs56227200
|
0.02390
|
NM_001271.4(CHD2):c.3596-20G>A
|
rs78359469
|
0.02014
|
NM_001271.4(CHD2):c.4413+15C>T
|
rs74029217
|
0.01677
|
NM_001271.4(CHD2):c.3413+16G>A
|
rs114892796
|
0.01273
|
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr)
|
rs61756301
|
0.01123
|
NM_001271.4(CHD2):c.4138-15T>G
|
rs115207100
|
0.00887
|
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=)
|
rs76621355
|
0.00866
|
NM_001271.4(CHD2):c.693-20C>T
|
rs141271290
|
0.00778
|
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=)
|
rs144093014
|
0.00698
|
NM_001271.4(CHD2):c.2577+7T>C
|
rs146944583
|
0.00371
|
NM_001271.4(CHD2):c.4138-6T>C
|
rs182330071
|
0.00325
|
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=)
|
rs79219767
|
0.00281
|
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=)
|
rs35339954
|
0.00267
|
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=)
|
rs141018126
|
0.00262
|
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)
|
rs117844037
|
0.00256
|
NM_001271.4(CHD2):c.4592+18G>A
|
rs116022337
|
0.00174
|
NM_001271.4(CHD2):c.2730A>T (p.Val910=)
|
rs77895180
|
0.00172
|
NM_001271.4(CHD2):c.2353-10A>G
|
rs190159225
|
0.00150
|
NM_001271.4(CHD2):c.330G>A (p.Arg110=)
|
rs138626801
|
0.00140
|
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=)
|
rs139534358
|
0.00121
|
NM_001271.4(CHD2):c.2876+11G>A
|
rs199828490
|
0.00110
|
NM_001271.4(CHD2):c.855G>A (p.Ala285=)
|
rs138796857
|
0.00099
|
NM_001271.4(CHD2):c.2973+4A>G
|
rs202244266
|
0.00093
|
NM_001271.4(CHD2):c.960A>T (p.Thr320=)
|
rs149632554
|
0.00078
|
NM_001271.4(CHD2):c.2577+19T>C
|
rs193089255
|
0.00068
|
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)
|
rs139646715
|
0.00049
|
NM_001271.4(CHD2):c.2001-15C>G
|
rs201137739
|
0.00047
|
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=)
|
rs144292068
|
0.00047
|
NM_001271.4(CHD2):c.1810-3T>C
|
rs189339982
|
0.00041
|
NM_001271.4(CHD2):c.2337A>G (p.Gly779=)
|
rs138084718
|
0.00040
|
NM_001271.4(CHD2):c.4807C>T (p.Pro1603Ser)
|
rs144395162
|
0.00039
|
NM_001271.4(CHD2):c.3886-14C>T
|
rs368361932
|
0.00038
|
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu)
|
rs370464322
|
0.00031
|
NM_001271.4(CHD2):c.3455+19T>C
|
rs200427035
|
0.00031
|
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)
|
rs143043614
|
0.00029
|
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg)
|
rs146655995
|
0.00029
|
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His)
|
rs201950393
|
0.00029
|
NM_001271.4(CHD2):c.2728-3C>T
|
rs2272460
|
0.00027
|
NM_001271.4(CHD2):c.3315G>A (p.Thr1105=)
|
rs138979360
|
0.00026
|
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr)
|
rs147466101
|
0.00023
|
NM_001271.4(CHD2):c.1017G>A (p.Glu339=)
|
rs141957556
|
0.00021
|
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met)
|
rs770993927
|
0.00021
|
NM_001271.4(CHD2):c.4278+5T>C
|
rs202174434
|
0.00019
|
NM_001271.4(CHD2):c.2728-16G>A
|
rs111544874
|
0.00018
|
NM_001271.4(CHD2):c.2877-15A>G
|
rs374737708
|
0.00017
|
NM_001271.4(CHD2):c.4009-4C>T
|
rs376566234
|
0.00017
|
NM_001271.4(CHD2):c.1377+12G>A
|
rs200005446
|
0.00016
|
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)
|
rs186163798
|
0.00016
|
NM_001271.4(CHD2):c.295-20G>A
|
rs191859431
|
0.00016
|
NM_001271.4(CHD2):c.4593-19T>C
|
rs377557426
|
0.00016
|
NM_001271.4(CHD2):c.551+5A>C
|
rs376498798
|
0.00016
|
NM_001271.4(CHD2):c.1503-7T>C
|
rs777008776
|
0.00014
|
NM_001271.4(CHD2):c.4485G>A (p.Val1495=)
|
rs143356457
|
0.00014
|
NM_001271.4(CHD2):c.891C>T (p.Asp297=)
|
rs567353575
|
0.00014
|
NM_001271.4(CHD2):c.826+4T>C
|
rs369930157
|
0.00013
|
NM_001271.4(CHD2):c.1297A>G (p.Ile433Val)
|
rs368327967
|
0.00011
|
NM_001271.4(CHD2):c.4533C>T (p.Asp1511=)
|
rs141821906
|
0.00011
|
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=)
|
rs201939255
|
0.00011
|
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)
|
rs201628571
|
0.00011
|
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser)
|
rs143431217
|
0.00010
|
NM_001271.4(CHD2):c.1116G>A (p.Glu372=)
|
rs147482358
|
0.00009
|
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg)
|
rs753058189
|
0.00009
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr)
|
rs754174173
|
0.00009
|
NM_001271.4(CHD2):c.753A>G (p.Glu251=)
|
rs368486032
|
0.00009
|
NM_001271.4(CHD2):c.1038C>T (p.Asp346=)
|
rs148706063
|
0.00008
|
NM_001271.4(CHD2):c.4212A>G (p.Gln1404=)
|
rs202074164
|
0.00008
|
NM_001271.4(CHD2):c.1174A>G (p.Thr392Ala)
|
rs754295120
|
0.00007
|
NM_001271.4(CHD2):c.2506-11T>G
|
rs376323635
|
0.00007
|
NM_001271.4(CHD2):c.2578-18A>G
|
rs375711428
|
0.00007
|
NM_001271.4(CHD2):c.2703G>A (p.Ala901=)
|
rs776453723
|
0.00007
|
NM_001271.4(CHD2):c.2728-12C>G
|
rs544624674
|
0.00007
|
NM_001271.4(CHD2):c.4977C>T (p.Ser1659=)
|
rs769365893
|
0.00007
|
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr)
|
rs146275216
|
0.00007
|
NM_001271.4(CHD2):c.984G>A (p.Gln328=)
|
rs944181807
|
0.00007
|
NM_001271.4(CHD2):c.1052+11C>T
|
rs558895083
|
0.00006
|
NM_001271.4(CHD2):c.1233C>T (p.Pro411=)
|
rs202188833
|
0.00006
|
NM_001271.4(CHD2):c.1377+13T>C
|
rs375615448
|
0.00006
|
NM_001271.4(CHD2):c.153C>T (p.Ser51=)
|
rs201752698
|
0.00006
|
NM_001271.4(CHD2):c.180T>G (p.Ser60=)
|
rs747415863
|
0.00006
|
NM_001271.4(CHD2):c.261C>G (p.Ala87=)
|
rs367968143
|
0.00006
|
NM_001271.4(CHD2):c.2724G>A (p.Lys908=)
|
rs775276311
|
0.00006
|
NM_001271.4(CHD2):c.3237+14A>G
|
rs763922777
|
0.00006
|
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp)
|
rs755898320
|
0.00006
|
NM_001271.4(CHD2):c.4542C>T (p.Ala1514=)
|
rs147115056
|
0.00006
|
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr)
|
rs780701076
|
0.00006
|
NM_001271.4(CHD2):c.4907-15T>A
|
rs372145426
|
0.00006
|
NM_001271.4(CHD2):c.4968A>G (p.Pro1656=)
|
rs909107415
|
0.00006
|
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn)
|
rs61752830
|
0.00006
|
NM_001271.4(CHD2):c.4986C>T (p.His1662=)
|
rs139082993
|
0.00006
|
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr)
|
rs746849506
|
0.00006
|
NM_001271.4(CHD2):c.551+13C>T
|
rs137954528
|
0.00006
|
NM_001271.4(CHD2):c.553A>G (p.Thr185Ala)
|
rs1442904433
|
0.00006
|
NM_001271.4(CHD2):c.584C>T (p.Pro195Leu)
|
rs1381374225
|
0.00006
|
NM_001271.4(CHD2):c.826+14G>A
|
rs189583903
|
0.00006
|
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu)
|
rs200120256
|
0.00005
|
NM_001271.4(CHD2):c.1719+12A>G
|
rs754059204
|
0.00005
|
NM_001271.4(CHD2):c.2562T>C (p.Asn854=)
|
rs1035687846
|
0.00005
|
NM_001271.4(CHD2):c.2835C>T (p.Thr945=)
|
rs752124959
|
0.00005
|
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=)
|
rs565686460
|
0.00005
|
NM_001271.4(CHD2):c.4644G>A (p.Leu1548=)
|
rs138836603
|
0.00005
|
NM_001271.4(CHD2):c.5154-19C>T
|
rs777949860
|
0.00005
|
NM_001271.4(CHD2):c.5351T>C (p.Val1784Ala)
|
rs776419537
|
0.00005
|
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys)
|
rs542243995
|
0.00004
|
NM_001271.4(CHD2):c.1359C>T (p.Ile453=)
|
rs777978644
|
0.00004
|
NM_001271.4(CHD2):c.1474C>T (p.Leu492=)
|
rs139149362
|
0.00004
|
NM_001271.4(CHD2):c.1809+3G>A
|
rs778257286
|
0.00004
|
NM_001271.4(CHD2):c.2601A>G (p.Thr867=)
|
rs145367388
|
0.00004
|
NM_001271.4(CHD2):c.3012G>A (p.Thr1004=)
|
rs775751349
|
0.00004
|
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln)
|
rs143503275
|
0.00004
|
NM_001271.4(CHD2):c.4032T>G (p.Pro1344=)
|
rs547927047
|
0.00004
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=)
|
rs772169751
|
0.00004
|
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg)
|
rs373051961
|
0.00004
|
NM_001271.4(CHD2):c.4592+17C>T
|
rs184611897
|
0.00004
|
NM_001271.4(CHD2):c.4688A>G (p.Glu1563Gly)
|
rs774715709
|
0.00004
|
NM_001271.4(CHD2):c.5032C>T (p.Arg1678Trp)
|
rs767024945
|
0.00004
|
NM_001271.4(CHD2):c.5036G>A (p.Arg1679Gln)
|
rs373039868
|
0.00004
|
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)
|
rs747794466
|
0.00004
|
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln)
|
rs564787975
|
0.00004
|
NM_001271.4(CHD2):c.516A>G (p.Gln172=)
|
rs770631510
|
0.00004
|
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=)
|
rs766244767
|
0.00004
|
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His)
|
rs140365508
|
0.00004
|
NM_001271.4(CHD2):c.600A>G (p.Gly200=)
|
rs1057522302
|
0.00004
|
NM_001271.4(CHD2):c.987A>G (p.Gln329=)
|
rs758605280
|
0.00004
|
NM_001271.4(CHD2):c.1155T>A (p.Ala385=)
|
rs374640261
|
0.00003
|
NM_001271.4(CHD2):c.1199-11A>G
|
rs1236615732
|
0.00003
|
NM_001271.4(CHD2):c.1596G>A (p.Leu532=)
|
rs996584370
|
0.00003
|
NM_001271.4(CHD2):c.1680C>T (p.Asn560=)
|
rs368985360
|
0.00003
|
NM_001271.4(CHD2):c.1773A>G (p.Ala591=)
|
rs370425217
|
0.00003
|
NM_001271.4(CHD2):c.192G>A (p.Ser64=)
|
rs143614581
|
0.00003
|
NM_001271.4(CHD2):c.1938G>A (p.Gly646=)
|
rs985145180
|
0.00003
|
NM_001271.4(CHD2):c.2769G>A (p.Glu923=)
|
rs755268343
|
0.00003
|
NM_001271.4(CHD2):c.2850C>A (p.Ile950=)
|
rs780916645
|
0.00003
|
NM_001271.4(CHD2):c.294+5C>T
|
rs777934535
|
0.00003
|
NM_001271.4(CHD2):c.3067-19A>G
|
rs749337105
|
0.00003
|
NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro)
|
rs760099829
|
0.00003
|
NM_001271.4(CHD2):c.3279G>A (p.Arg1093=)
|
rs774908145
|
0.00003
|
NM_001271.4(CHD2):c.3322T>A (p.Ser1108Thr)
|
rs750356605
|
0.00003
|
NM_001271.4(CHD2):c.3366T>C (p.Ser1122=)
|
rs781574098
|
0.00003
|
NM_001271.4(CHD2):c.3413+7G>T
|
rs892847874
|
0.00003
|
NM_001271.4(CHD2):c.3596-15A>T
|
rs376417647
|
0.00003
|
NM_001271.4(CHD2):c.3734+7A>G
|
rs565514035
|
0.00003
|
NM_001271.4(CHD2):c.4029G>A (p.Lys1343=)
|
rs200781322
|
0.00003
|
NM_001271.4(CHD2):c.4036G>T (p.Val1346Leu)
|
rs200178864
|
0.00003
|
NM_001271.4(CHD2):c.4063C>A (p.Leu1355Met)
|
rs748470273
|
0.00003
|
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del)
|
rs746694647
|
0.00003
|
NM_001271.4(CHD2):c.4242C>T (p.Asp1414=)
|
rs771971989
|
0.00003
|
NM_001271.4(CHD2):c.4434C>G (p.Pro1478=)
|
rs199572989
|
0.00003
|
NM_001271.4(CHD2):c.4584C>G (p.Leu1528=)
|
rs543526502
|
0.00003
|
NM_001271.4(CHD2):c.4693-3T>C
|
rs967867731
|
0.00003
|
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser)
|
rs753595749
|
0.00003
|
NM_001271.4(CHD2):c.585G>A (p.Pro195=)
|
rs371325259
|
0.00003
|
NM_001271.4(CHD2):c.596G>A (p.Arg199His)
|
rs367550855
|
0.00003
|
NM_001271.4(CHD2):c.62+19C>A
|
rs748026656
|
0.00003
|
NM_001271.4(CHD2):c.827-12A>C
|
rs759241973
|
0.00003
|
NM_001271.4(CHD2):c.881G>T (p.Gly294Val)
|
rs771390521
|
0.00003
|
NM_001271.4(CHD2):c.1161G>A (p.Lys387=)
|
rs756485685
|
0.00002
|
NM_001271.4(CHD2):c.1170A>G (p.Lys390=)
|
rs1342167975
|
0.00002
|
NM_001271.4(CHD2):c.1215G>A (p.Pro405=)
|
rs144294063
|
0.00002
|
NM_001271.4(CHD2):c.1242A>G (p.Leu414=)
|
rs749255095
|
0.00002
|
NM_001271.4(CHD2):c.1681G>A (p.Val561Ile)
|
rs373363898
|
0.00002
|
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser)
|
rs373555806
|
0.00002
|
NM_001271.4(CHD2):c.184A>C (p.Ser62Arg)
|
rs199670886
|
0.00002
|
NM_001271.4(CHD2):c.2091T>A (p.Leu697=)
|
rs770949083
|
0.00002
|
NM_001271.4(CHD2):c.225C>G (p.Ser75=)
|
rs144667627
|
0.00002
|
NM_001271.4(CHD2):c.2395C>T (p.Leu799=)
|
rs369618673
|
0.00002
|
NM_001271.4(CHD2):c.2565A>G (p.Ala855=)
|
rs892314237
|
0.00002
|
NM_001271.4(CHD2):c.2577+20G>C
|
rs771629875
|
0.00002
|
NM_001271.4(CHD2):c.2757G>A (p.Gly919=)
|
rs754006955
|
0.00002
|
NM_001271.4(CHD2):c.2974-16G>C
|
rs990532473
|
0.00002
|
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=)
|
rs778897064
|
0.00002
|
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro)
|
rs751507887
|
0.00002
|
NM_001271.4(CHD2):c.4098T>G (p.Pro1366=)
|
rs1478793992
|
0.00002
|
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln)
|
rs762950368
|
0.00002
|
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu)
|
rs368570245
|
0.00002
|
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
|
rs779953123
|
0.00002
|
NM_001271.4(CHD2):c.4580A>G (p.Lys1527Arg)
|
rs771195215
|
0.00002
|
NM_001271.4(CHD2):c.4592+20C>G
|
rs377002260
|
0.00002
|
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=)
|
rs150640503
|
0.00002
|
NM_001271.4(CHD2):c.4668T>C (p.His1556=)
|
rs749555682
|
0.00002
|
NM_001271.4(CHD2):c.4693-19G>A
|
rs764154165
|
0.00002
|
NM_001271.4(CHD2):c.4710C>T (p.Asp1570=)
|
rs756273030
|
0.00002
|
NM_001271.4(CHD2):c.4764G>A (p.Arg1588=)
|
rs762849098
|
0.00002
|
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe)
|
rs893203290
|
0.00002
|
NM_001271.4(CHD2):c.4941C>T (p.Asn1647=)
|
rs1161487399
|
0.00002
|
NM_001271.4(CHD2):c.5017C>T (p.His1673Tyr)
|
rs190569275
|
0.00002
|
NM_001271.4(CHD2):c.5054G>A (p.Arg1685His)
|
rs749360780
|
0.00002
|
NM_001271.4(CHD2):c.5073C>T (p.Pro1691=)
|
rs754504518
|
0.00002
|
NM_001271.4(CHD2):c.5095C>T (p.Pro1699Ser)
|
rs777481677
|
0.00002
|
NM_001271.4(CHD2):c.5128C>T (p.Arg1710Trp)
|
rs1000152328
|
0.00002
|
NM_001271.4(CHD2):c.5154-13A>G
|
rs747116554
|
0.00002
|
NM_001271.4(CHD2):c.5229A>G (p.Arg1743=)
|
rs773814385
|
0.00002
|
NM_001271.4(CHD2):c.5232G>A (p.Met1744Ile)
|
rs761319790
|
0.00002
|
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser)
|
rs772907727
|
0.00002
|
NM_001271.4(CHD2):c.529G>A (p.Ala177Thr)
|
rs776393356
|
0.00002
|
NM_001271.4(CHD2):c.5341C>G (p.His1781Asp)
|
rs771637309
|
0.00002
|
NM_001271.4(CHD2):c.5370C>T (p.Pro1790=)
|
rs756324303
|
0.00002
|
NM_001271.4(CHD2):c.5391C>T (p.His1797=)
|
rs755395580
|
0.00002
|
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys)
|
rs540770153
|
0.00002
|
NM_001271.4(CHD2):c.569G>A (p.Arg190His)
|
rs776934265
|
0.00002
|
NM_001271.4(CHD2):c.595C>T (p.Arg199Cys)
|
rs764705223
|
0.00002
|
NM_001271.4(CHD2):c.63-15C>G
|
rs372471036
|
0.00002
|
NM_001271.4(CHD2):c.683A>G (p.Lys228Arg)
|
rs764468460
|
0.00002
|
NM_001271.4(CHD2):c.699A>G (p.Lys233=)
|
rs201178956
|
0.00002
|
NM_001271.4(CHD2):c.827-17A>T
|
rs765907918
|
0.00002
|
NM_001271.4(CHD2):c.843T>C (p.Thr281=)
|
rs752429913
|
0.00002
|
NM_001271.4(CHD2):c.854C>T (p.Ala285Val)
|
rs544867753
|
0.00002
|
NM_001271.4(CHD2):c.87G>A (p.Ser29=)
|
rs560296130
|
0.00002
|
NM_001271.4(CHD2):c.1052+14C>G
|
rs146319346
|
0.00001
|
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu)
|
rs1064794584
|
0.00001
|
NM_001271.4(CHD2):c.1104G>A (p.Glu368=)
|
rs757569320
|
0.00001
|
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu)
|
rs1249403093
|
0.00001
|
NM_001271.4(CHD2):c.1154-6G>A
|
rs1275001828
|
0.00001
|
NM_001271.4(CHD2):c.1188A>G (p.Thr396=)
|
rs199553245
|
0.00001
|
NM_001271.4(CHD2):c.1199-9A>G
|
rs1210573353
|
0.00001
|
NM_001271.4(CHD2):c.11A>G (p.Asn4Ser)
|
rs2052524504
|
0.00001
|
NM_001271.4(CHD2):c.1207C>T (p.Arg403Trp)
|
rs1438580585
|
0.00001
|
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu)
|
rs372219984
|
0.00001
|
NM_001271.4(CHD2):c.1225A>G (p.Asn409Asp)
|
rs531251618
|
0.00001
|
NM_001271.4(CHD2):c.1248A>G (p.Lys416=)
|
rs1034535662
|
0.00001
|
NM_001271.4(CHD2):c.12T>G (p.Asn4Lys)
|
rs750955957
|
0.00001
|
NM_001271.4(CHD2):c.1317T>C (p.Asn439=)
|
rs753188917
|
0.00001
|
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe)
|
rs763586960
|
0.00001
|
NM_001271.4(CHD2):c.1335C>T (p.His445=)
|
rs140008471
|
0.00001
|
NM_001271.4(CHD2):c.1357A>T (p.Ile453Phe)
|
rs144393676
|
0.00001
|
NM_001271.4(CHD2):c.1378-18T>C
|
rs748100193
|
0.00001
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
NM_001271.4(CHD2):c.1503-6C>T
|
rs768998067
|
0.00001
|
NM_001271.4(CHD2):c.1572C>T (p.Ser524=)
|
rs1019484868
|
0.00001
|
NM_001271.4(CHD2):c.1578G>A (p.Leu526=)
|
rs763466775
|
0.00001
|
NM_001271.4(CHD2):c.1582C>G (p.His528Asp)
|
rs776364124
|
0.00001
|
NM_001271.4(CHD2):c.159G>A (p.Ser53=)
|
rs552271683
|
0.00001
|
NM_001271.4(CHD2):c.1668A>G (p.Ala556=)
|
rs1060504937
|
0.00001
|
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val)
|
rs1060503518
|
0.00001
|
NM_001271.4(CHD2):c.1718C>T (p.Thr573Met)
|
rs780171086
|
0.00001
|
NM_001271.4(CHD2):c.174A>G (p.Glu58=)
|
rs1168929886
|
0.00001
|
NM_001271.4(CHD2):c.1764G>A (p.Lys588=)
|
rs139263117
|
0.00001
|
NM_001271.4(CHD2):c.1770C>T (p.Asn590=)
|
rs149947056
|
0.00001
|
NM_001271.4(CHD2):c.1810-11T>C
|
rs759545889
|
0.00001
|
NM_001271.4(CHD2):c.189G>T (p.Gln63His)
|
rs568998233
|
0.00001
|
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr)
|
rs757715547
|
0.00001
|
NM_001271.4(CHD2):c.1914C>T (p.Ser638=)
|
rs1304257967
|
0.00001
|
NM_001271.4(CHD2):c.1968C>T (p.Leu656=)
|
rs1159091696
|
0.00001
|
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu)
|
rs773901289
|
0.00001
|
NM_001271.4(CHD2):c.1995G>A (p.Pro665=)
|
rs747900073
|
0.00001
|
NM_001271.4(CHD2):c.2037G>A (p.Gly679=)
|
rs1441816340
|
0.00001
|
NM_001271.4(CHD2):c.2098A>C (p.Arg700=)
|
rs776453537
|
0.00001
|
NM_001271.4(CHD2):c.219C>G (p.Ser73=)
|
rs140718403
|
0.00001
|
NM_001271.4(CHD2):c.2230A>G (p.Thr744Ala)
|
rs1596418984
|
0.00001
|
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile)
|
rs1359060187
|
0.00001
|
NM_001271.4(CHD2):c.2350C>T (p.Leu784=)
|
rs2053846480
|
0.00001
|
NM_001271.4(CHD2):c.2352+4G>C
|
rs1173333743
|
0.00001
|
NM_001271.4(CHD2):c.249A>G (p.Lys83=)
|
rs990673547
|
0.00001
|
NM_001271.4(CHD2):c.24C>T (p.Ser8=)
|
rs1251726951
|
0.00001
|
NM_001271.4(CHD2):c.2505+19T>C
|
rs1057521420
|
0.00001
|
NM_001271.4(CHD2):c.2506-13T>C
|
rs751543942
|
0.00001
|
NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys)
|
rs1567148426
|
0.00001
|
NM_001271.4(CHD2):c.2553C>T (p.Asp851=)
|
rs2053887874
|
0.00001
|
NM_001271.4(CHD2):c.2568T>A (p.Asp856Glu)
|
rs770126779
|
0.00001
|
NM_001271.4(CHD2):c.2577+12A>C
|
rs769088995
|
0.00001
|
NM_001271.4(CHD2):c.2634A>G (p.Ser878=)
|
rs914239234
|
0.00001
|
NM_001271.4(CHD2):c.2745A>G (p.Leu915=)
|
rs1567150238
|
0.00001
|
NM_001271.4(CHD2):c.2751A>T (p.Thr917=)
|
rs1233513499
|
0.00001
|
NM_001271.4(CHD2):c.2802A>G (p.Val934=)
|
rs544488824
|
0.00001
|
NM_001271.4(CHD2):c.2843G>A (p.Arg948Gln)
|
rs1158357314
|
0.00001
|
NM_001271.4(CHD2):c.2846C>T (p.Thr949Met)
|
rs1064794542
|
0.00001
|
NM_001271.4(CHD2):c.2865A>G (p.Ser955=)
|
rs769531663
|
0.00001
|
NM_001271.4(CHD2):c.2901G>A (p.Glu967=)
|
rs755608958
|
0.00001
|
NM_001271.4(CHD2):c.2907A>G (p.Thr969=)
|
rs2053970223
|
0.00001
|
NM_001271.4(CHD2):c.295-17G>A
|
rs757490818
|
0.00001
|
NM_001271.4(CHD2):c.295-18G>C
|
rs747188522
|
0.00001
|
NM_001271.4(CHD2):c.3006T>C (p.Ala1002=)
|
rs186862897
|
0.00001
|
NM_001271.4(CHD2):c.3066+8G>A
|
rs376968734
|
0.00001
|
NM_001271.4(CHD2):c.3067-16G>A
|
rs768858302
|
0.00001
|
NM_001271.4(CHD2):c.3067-6T>C
|
rs901346678
|
0.00001
|
NM_001271.4(CHD2):c.30G>A (p.Glu10=)
|
rs754725429
|
0.00001
|
NM_001271.4(CHD2):c.3177G>A (p.Glu1059=)
|
rs764787401
|
0.00001
|
NM_001271.4(CHD2):c.3180G>A (p.Arg1060=)
|
rs1005206801
|
0.00001
|
NM_001271.4(CHD2):c.3190C>T (p.Leu1064=)
|
rs752339272
|
0.00001
|
NM_001271.4(CHD2):c.3214C>A (p.Arg1072=)
|
rs767106034
|
0.00001
|
NM_001271.4(CHD2):c.3238-13C>T
|
rs368489730
|
0.00001
|
NM_001271.4(CHD2):c.3238-3C>T
|
rs1596437905
|
0.00001
|
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys)
|
rs200013427
|
0.00001
|
NM_001271.4(CHD2):c.3354G>C (p.Gly1118=)
|
rs747316316
|
0.00001
|
NM_001271.4(CHD2):c.3355C>T (p.Arg1119Cys)
|
rs370737593
|
0.00001
|
NM_001271.4(CHD2):c.3359C>T (p.Pro1120Leu)
|
rs2054032013
|
0.00001
|
NM_001271.4(CHD2):c.3371G>A (p.Arg1124Gln)
|
rs746349198
|
0.00001
|
NM_001271.4(CHD2):c.3377A>G (p.Asp1126Gly)
|
rs1343182559
|
0.00001
|
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)
|
rs927604763
|
0.00001
|
NM_001271.4(CHD2):c.3399T>C (p.Asp1133=)
|
rs972263908
|
0.00001
|
NM_001271.4(CHD2):c.3402A>G (p.Ala1134=)
|
rs1596438065
|
0.00001
|
NM_001271.4(CHD2):c.3444C>T (p.Leu1148=)
|
rs949834349
|
0.00001
|
NM_001271.4(CHD2):c.3455+9A>C
|
rs199958087
|
0.00001
|
NM_001271.4(CHD2):c.3456-16A>G
|
rs375354835
|
0.00001
|
NM_001271.4(CHD2):c.3456-19C>T
|
rs780531827
|
0.00001
|
NM_001271.4(CHD2):c.3456-6C>T
|
rs755464665
|
0.00001
|
NM_001271.4(CHD2):c.3483G>A (p.Glu1161=)
|
rs747595052
|
0.00001
|
NM_001271.4(CHD2):c.3510G>A (p.Leu1170=)
|
rs746728408
|
0.00001
|
NM_001271.4(CHD2):c.3536A>G (p.Asn1179Ser)
|
rs561920953
|
0.00001
|
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly)
|
rs759269259
|
0.00001
|
NM_001271.4(CHD2):c.3570G>A (p.Glu1190=)
|
rs1304626183
|
0.00001
|
NM_001271.4(CHD2):c.357A>G (p.Pro119=)
|
rs770307318
|
0.00001
|
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr)
|
rs561941628
|
0.00001
|
NM_001271.4(CHD2):c.3591C>T (p.Ser1197=)
|
rs753318183
|
0.00001
|
NM_001271.4(CHD2):c.3592G>A (p.Glu1198Lys)
|
rs757981280
|
0.00001
|
NM_001271.4(CHD2):c.3595+7G>A
|
rs527839842
|
0.00001
|
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys)
|
rs559187972
|
0.00001
|
NM_001271.4(CHD2):c.3639C>T (p.Ser1213=)
|
rs373621677
|
0.00001
|
NM_001271.4(CHD2):c.3649G>C (p.Val1217Leu)
|
rs1465237014
|
0.00001
|
NM_001271.4(CHD2):c.3672A>G (p.Gln1224=)
|
rs768542034
|
0.00001
|
NM_001271.4(CHD2):c.3690G>A (p.Glu1230=)
|
rs113077918
|
0.00001
|
NM_001271.4(CHD2):c.3786G>A (p.Gly1262=)
|
rs1440327194
|
0.00001
|
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His)
|
rs1410226460
|
0.00001
|
NM_001271.4(CHD2):c.3828T>C (p.His1276=)
|
rs1171704093
|
0.00001
|
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=)
|
rs1356992069
|
0.00001
|
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu)
|
rs1273405855
|
0.00001
|
NM_001271.4(CHD2):c.3894G>A (p.Pro1298=)
|
rs754764864
|
0.00001
|
NM_001271.4(CHD2):c.3924G>A (p.Lys1308=)
|
rs745873112
|
0.00001
|
NM_001271.4(CHD2):c.3952T>C (p.Leu1318=)
|
rs376550364
|
0.00001
|
NM_001271.4(CHD2):c.4008+8C>T
|
rs764966782
|
0.00001
|
NM_001271.4(CHD2):c.4009-13T>C
|
rs1161220634
|
0.00001
|
NM_001271.4(CHD2):c.4009G>T (p.Ala1337Ser)
|
rs776072657
|
0.00001
|
NM_001271.4(CHD2):c.4072G>A (p.Glu1358Lys)
|
rs766747626
|
0.00001
|
NM_001271.4(CHD2):c.4137+17C>T
|
rs761732184
|
0.00001
|
NM_001271.4(CHD2):c.4137+18G>A
|
rs1246012548
|
0.00001
|
NM_001271.4(CHD2):c.4137+5G>A
|
rs762703910
|
0.00001
|
NM_001271.4(CHD2):c.4137+9T>G
|
rs774237978
|
0.00001
|
NM_001271.4(CHD2):c.4149G>A (p.Leu1383=)
|
rs752784398
|
0.00001
|
NM_001271.4(CHD2):c.4193A>C (p.Lys1398Thr)
|
rs1239452633
|
0.00001
|
NM_001271.4(CHD2):c.4213A>G (p.Met1405Val)
|
rs750869247
|
0.00001
|
NM_001271.4(CHD2):c.4225A>G (p.Lys1409Glu)
|
rs1334969628
|
0.00001
|
NM_001271.4(CHD2):c.4227A>G (p.Lys1409=)
|
rs917584577
|
0.00001
|
NM_001271.4(CHD2):c.4228G>T (p.Asp1410Tyr)
|
rs775901148
|
0.00001
|
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly)
|
rs1304514223
|
0.00001
|
NM_001271.4(CHD2):c.4278+15C>T
|
rs751745833
|
0.00001
|
NM_001271.4(CHD2):c.4278+8T>C
|
rs1340343354
|
0.00001
|
NM_001271.4(CHD2):c.4279-4A>G
|
rs774362000
|
0.00001
|
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu)
|
rs374157769
|
0.00001
|
NM_001271.4(CHD2):c.4321T>G (p.Ser1441Ala)
|
rs1006566437
|
0.00001
|
NM_001271.4(CHD2):c.4363C>G (p.Pro1455Ala)
|
rs1184559933
|
0.00001
|
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser)
|
rs913833972
|
0.00001
|
NM_001271.4(CHD2):c.4512C>T (p.Asn1504=)
|
rs750989875
|
0.00001
|
NM_001271.4(CHD2):c.4518G>A (p.Leu1506=)
|
rs557766333
|
0.00001
|
NM_001271.4(CHD2):c.4541C>T (p.Ala1514Val)
|
rs779865037
|
0.00001
|
NM_001271.4(CHD2):c.4559A>T (p.Tyr1520Phe)
|
rs1443730022
|
0.00001
|
NM_001271.4(CHD2):c.4592+7A>G
|
rs1384519631
|
0.00001
|
NM_001271.4(CHD2):c.4629T>C (p.Phe1543=)
|
rs1488895664
|
0.00001
|
NM_001271.4(CHD2):c.4678T>A (p.Ser1560Thr)
|
rs747637652
|
0.00001
|
NM_001271.4(CHD2):c.4692+7T>C
|
rs748728212
|
0.00001
|
NM_001271.4(CHD2):c.4713C>T (p.Asp1571=)
|
rs749592290
|
0.00001
|
NM_001271.4(CHD2):c.4714G>A (p.Val1572Met)
|
rs755267457
|
0.00001
|
NM_001271.4(CHD2):c.4724G>C (p.Gly1575Ala)
|
rs746506782
|
0.00001
|
NM_001271.4(CHD2):c.4791C>T (p.Thr1597=)
|
rs560317096
|
0.00001
|
NM_001271.4(CHD2):c.4793C>T (p.Ser1598Leu)
|
rs1382300456
|
0.00001
|
NM_001271.4(CHD2):c.4811A>C (p.Gln1604Pro)
|
rs1355095407
|
0.00001
|
NM_001271.4(CHD2):c.4815G>A (p.Lys1605=)
|
rs2054437516
|
0.00001
|
NM_001271.4(CHD2):c.4826C>T (p.Pro1609Leu)
|
rs745396398
|
0.00001
|
NM_001271.4(CHD2):c.4864G>A (p.Asp1622Asn)
|
rs1044619239
|
0.00001
|
NM_001271.4(CHD2):c.486A>C (p.Gln162His)
|
rs1018764419
|
0.00001
|
NM_001271.4(CHD2):c.4906+20T>C
|
rs753889013
|
0.00001
|
NM_001271.4(CHD2):c.4907-9T>G
|
rs747965948
|
0.00001
|
NM_001271.4(CHD2):c.4910G>A (p.Arg1637Gln)
|
rs752891322
|
0.00001
|
NM_001271.4(CHD2):c.4931G>A (p.Arg1644Lys)
|
rs997227724
|
0.00001
|
NM_001271.4(CHD2):c.4960A>C (p.Asn1654His)
|
rs1437890850
|
0.00001
|
NM_001271.4(CHD2):c.4961A>G (p.Asn1654Ser)
|
rs1064795301
|
0.00001
|
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn)
|
rs748829883
|
0.00001
|
NM_001271.4(CHD2):c.4992G>A (p.Gln1664=)
|
rs1289862557
|
0.00001
|
NM_001271.4(CHD2):c.5008T>C (p.Tyr1670His)
|
rs775504391
|
0.00001
|
NM_001271.4(CHD2):c.5009A>G (p.Tyr1670Cys)
|
rs897082911
|
0.00001
|
NM_001271.4(CHD2):c.5019C>T (p.His1673=)
|
rs767814807
|
0.00001
|
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu)
|
rs150951454
|
0.00001
|
NM_001271.4(CHD2):c.5051A>T (p.His1684Leu)
|
rs770784804
|
0.00001
|
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)
|
rs199851404
|
0.00001
|
NM_001271.4(CHD2):c.5059G>A (p.Gly1687Arg)
|
rs149696735
|
0.00001
|
NM_001271.4(CHD2):c.5076C>T (p.Asn1692=)
|
rs901529415
|
0.00001
|
NM_001271.4(CHD2):c.5083T>C (p.Ser1695Pro)
|
rs757945055
|
0.00001
|
NM_001271.4(CHD2):c.5100T>C (p.Tyr1700=)
|
rs751251777
|
0.00001
|
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=)
|
rs781108294
|
0.00001
|
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln)
|
rs61759469
|
0.00001
|
NM_001271.4(CHD2):c.5121A>G (p.Arg1707=)
|
rs1429253236
|
0.00001
|
NM_001271.4(CHD2):c.5124C>T (p.Asp1708=)
|
rs768703416
|
0.00001
|
NM_001271.4(CHD2):c.5129G>A (p.Arg1710Gln)
|
rs762575438
|
0.00001
|
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr)
|
rs1006465697
|
0.00001
|
NM_001271.4(CHD2):c.5148T>C (p.Tyr1716=)
|
rs773497328
|
0.00001
|
NM_001271.4(CHD2):c.5153G>A (p.Arg1718Lys)
|
rs2054517021
|
0.00001
|
NM_001271.4(CHD2):c.5154-3C>A
|
rs924030126
|
0.00001
|
NM_001271.4(CHD2):c.5184C>T (p.Ser1728=)
|
rs781575273
|
0.00001
|
NM_001271.4(CHD2):c.5197C>G (p.Pro1733Ala)
|
rs1461476360
|
0.00001
|
NM_001271.4(CHD2):c.5211C>G (p.His1737Gln)
|
rs1350393242
|
0.00001
|
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)
|
rs767099765
|
0.00001
|
NM_001271.4(CHD2):c.5258A>G (p.Tyr1753Cys)
|
rs765267794
|
0.00001
|
NM_001271.4(CHD2):c.525A>G (p.Val175=)
|
rs369466744
|
0.00001
|
NM_001271.4(CHD2):c.5267A>T (p.Gln1756Leu)
|
rs1045351387
|
0.00001
|
NM_001271.4(CHD2):c.5287C>T (p.Arg1763Cys)
|
rs1486760399
|
0.00001
|
NM_001271.4(CHD2):c.5310G>A (p.Leu1770=)
|
rs1450537733
|
0.00001
|
NM_001271.4(CHD2):c.5328T>G (p.Pro1776=)
|
rs1243275651
|
0.00001
|
NM_001271.4(CHD2):c.5335C>G (p.Pro1779Ala)
|
rs374271060
|
0.00001
|
NM_001271.4(CHD2):c.5348C>T (p.Ala1783Val)
|
rs1485233200
|
0.00001
|
NM_001271.4(CHD2):c.5362C>T (p.Arg1788Cys)
|
rs759259416
|
0.00001
|
NM_001271.4(CHD2):c.53A>G (p.Asn18Ser)
|
rs1034044226
|
0.00001
|
NM_001271.4(CHD2):c.5414A>G (p.His1805Arg)
|
rs1287619700
|
0.00001
|
NM_001271.4(CHD2):c.5437C>T (p.Leu1813=)
|
rs1160530295
|
0.00001
|
NM_001271.4(CHD2):c.543C>A (p.Val181=)
|
rs987898061
|
0.00001
|
NM_001271.4(CHD2):c.5476C>T (p.Arg1826Trp)
|
rs759398974
|
0.00001
|
NM_001271.4(CHD2):c.5478G>A (p.Arg1826=)
|
rs769748892
|
0.00001
|
NM_001271.4(CHD2):c.547A>G (p.Arg183Gly)
|
rs1264879568
|
0.00001
|
NM_001271.4(CHD2):c.551+16A>G
|
rs1298978258
|
0.00001
|
NM_001271.4(CHD2):c.552-7A>G
|
rs374413766
|
0.00001
|
NM_001271.4(CHD2):c.557T>C (p.Val186Ala)
|
rs760795656
|
0.00001
|
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu)
|
rs377701152
|
0.00001
|
NM_001271.4(CHD2):c.594G>C (p.Gln198His)
|
rs374064833
|
0.00001
|
NM_001271.4(CHD2):c.599G>A (p.Gly200Glu)
|
rs368498690
|
0.00001
|
NM_001271.4(CHD2):c.601A>G (p.Lys201Glu)
|
rs750067899
|
0.00001
|
NM_001271.4(CHD2):c.602A>T (p.Lys201Met)
|
rs1369732003
|
0.00001
|
NM_001271.4(CHD2):c.623C>T (p.Ser208Phe)
|
rs2053325261
|
0.00001
|
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp)
|
rs749147803
|
0.00001
|
NM_001271.4(CHD2):c.633T>G (p.Asp211Glu)
|
rs768365369
|
0.00001
|
NM_001271.4(CHD2):c.660G>A (p.Arg220=)
|
rs1466513798
|
0.00001
|
NM_001271.4(CHD2):c.663G>C (p.Gln221His)
|
rs776917899
|
0.00001
|
NM_001271.4(CHD2):c.668G>A (p.Arg223His)
|
rs1041959719
|
0.00001
|
NM_001271.4(CHD2):c.677C>T (p.Ala226Val)
|
rs1379301229
|
0.00001
|
NM_001271.4(CHD2):c.687C>T (p.Asn229=)
|
rs752009455
|
0.00001
|
NM_001271.4(CHD2):c.688G>T (p.Val230Phe)
|
rs762370978
|
0.00001
|
NM_001271.4(CHD2):c.758T>C (p.Val253Ala)
|
rs773621487
|
0.00001
|
NM_001271.4(CHD2):c.798C>G (p.Val266=)
|
rs1302498638
|
0.00001
|
NM_001271.4(CHD2):c.825A>T (p.Gly275=)
|
rs372257500
|
0.00001
|
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr)
|
rs375521197
|
0.00001
|
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr)
|
rs1313540517
|
0.00001
|
NM_001271.4(CHD2):c.849A>G (p.Val283=)
|
rs1476764301
|
0.00001
|
NM_001271.4(CHD2):c.857T>C (p.Ile286Thr)
|
rs530919126
|
0.00001
|
NM_001271.4(CHD2):c.870C>T (p.Gly290=)
|
rs748380979
|
0.00001
|
NM_001271.4(CHD2):c.871G>A (p.Asp291Asn)
|
rs201819533
|
0.00001
|
NM_001271.4(CHD2):c.878G>C (p.Ser293Thr)
|
rs1555439526
|
0.00001
|
NM_001271.4(CHD2):c.890A>T (p.Asp297Val)
|
rs527697910
|
0.00001
|
NM_001271.4(CHD2):c.918G>A (p.Gln306=)
|
rs373093638
|
0.00001
|
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu)
|
rs377012056
|
0.00001
|
NC_000015.10:g.(?_92901218)_(92901319_?)del
|
|
|
NC_000015.10:g.(?_92901218)_(93040513_?)del
|
|
|
NC_000015.10:g.(?_92929010)_(92929111_?)del
|
|
|
NC_000015.10:g.(?_92939558)_(92944535_?)del
|
|
|
NC_000015.10:g.(?_92967305)_(93012464_?)del
|
|
|
NC_000015.10:g.(?_92996937)_(93014929_?)del
|
|
|
NC_000015.9:g.(?_93444468)_(93536248_?)del
|
|
|
NC_000015.9:g.(?_93444468)_(93583743_?)del
|
|
|
NC_000015.9:g.(?_93444468)_(93583743_?)dup
|
|
|
NC_000015.9:g.(?_93485032)_(93515667_?)del
|
|
|
NC_000015.9:g.(?_93489031)_(93489466_?)del
|
|
|
NC_000015.9:g.(?_93496567)_(93528923_?)dup
|
|
|
NC_000015.9:g.(?_93510535)_(93567935_?)dup
|
|
|
NC_000015.9:g.(?_93514985)_(93518190_?)del
|
|
|
NC_000015.9:g.(?_93521444)_(93522533_?)del
|
|
|
NC_000015.9:g.(?_93522345)_(93567935_?)dup
|
|
|
NC_000015.9:g.(?_93528708)_(93528923_?)del
|
|
|
NC_000015.9:g.(?_93547827)_(93558159_?)dup
|
|
|
NM_001271.4(CHD2):c.1003C>A (p.Leu335Ile)
|
rs369773756
|
|
NM_001271.4(CHD2):c.1008A>G (p.Lys336=)
|
|
|
NM_001271.4(CHD2):c.1011A>G (p.Lys337=)
|
|
|
NM_001271.4(CHD2):c.1011dup (p.Leu338fs)
|
|
|
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
|
|
|
NM_001271.4(CHD2):c.1032A>G (p.Lys344=)
|
|
|
NM_001271.4(CHD2):c.1032dup (p.Glu345fs)
|
rs2053406905
|
|
NM_001271.4(CHD2):c.1039G>A (p.Glu347Lys)
|
|
|
NM_001271.4(CHD2):c.103A>G (p.Ser35Gly)
|
|
|
NM_001271.4(CHD2):c.1042A>G (p.Ile348Val)
|
|
|
NM_001271.4(CHD2):c.1045A>G (p.Lys349Glu)
|
|
|
NM_001271.4(CHD2):c.1052+12A>G
|
|
|
NM_001271.4(CHD2):c.1052+15A>G
|
|
|
NM_001271.4(CHD2):c.1052+16T>C
|
|
|
NM_001271.4(CHD2):c.1052+17G>A
|
|
|
NM_001271.4(CHD2):c.1052+1G>T
|
|
|
NM_001271.4(CHD2):c.1052+2T>C
|
rs2141787733
|
|
NM_001271.4(CHD2):c.1052+4T>C
|
|
|
NM_001271.4(CHD2):c.1052+5A>G
|
|
|
NM_001271.4(CHD2):c.1053-11C>G
|
rs2141790964
|
|
NM_001271.4(CHD2):c.1053-17G>A
|
|
|
NM_001271.4(CHD2):c.1053-2A>C
|
|
|
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter)
|
rs1555439714
|
|
NM_001271.4(CHD2):c.1080A>G (p.Val360=)
|
|
|
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter)
|
rs1555439719
|
|
NM_001271.4(CHD2):c.1091A>T (p.Asn364Ile)
|
rs143043614
|
|
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
|
|
|
NM_001271.4(CHD2):c.1099C>T (p.Gln367Ter)
|
rs2053431103
|
|
NM_001271.4(CHD2):c.111G>A (p.Ser37=)
|
|
|
NM_001271.4(CHD2):c.1125A>G (p.Lys375=)
|
|
|
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
|
|
|
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer)
|
rs1567136357
|
|
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala)
|
rs1596397712
|
|
NM_001271.4(CHD2):c.1153+4_1153+7dup
|
|
|
NM_001271.4(CHD2):c.1153+9A>G
|
|
|
NM_001271.4(CHD2):c.1154-3del
|
rs760631104
|
|
NM_001271.4(CHD2):c.1154-5T>A
|
rs767803710
|
|
NM_001271.4(CHD2):c.1155T>C (p.Ala385=)
|
|
|
NM_001271.4(CHD2):c.1164A>G (p.Thr388=)
|
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.1177T>A (p.Leu393Met)
|
|
|
NM_001271.4(CHD2):c.1180G>T (p.Gly394Cys)
|
rs771650465
|
|
NM_001271.4(CHD2):c.1196del (p.Pro399fs)
|
|
|
NM_001271.4(CHD2):c.1198+12A>G
|
|
|
NM_001271.4(CHD2):c.1198+18T>C
|
|
|
NM_001271.4(CHD2):c.1198+2T>C
|
|
|
NM_001271.4(CHD2):c.1199-12T>A
|
rs1474100681
|
|
NM_001271.4(CHD2):c.1199-12del
|
rs750508601
|
|
NM_001271.4(CHD2):c.1199-12dup
|
|
|
NM_001271.4(CHD2):c.1199-20A>T
|
|
|
NM_001271.4(CHD2):c.1199-8T>C
|
rs2141795407
|
|
NM_001271.4(CHD2):c.11_14del (p.Asn4fs)
|
|
|
NM_001271.4(CHD2):c.1203T>A (p.His401Gln)
|
rs1567137019
|
|
NM_001271.4(CHD2):c.1203T>C (p.His401=)
|
rs1567137019
|
|
NM_001271.4(CHD2):c.1208G>A (p.Arg403Gln)
|
|
|
NM_001271.4(CHD2):c.1219C>A (p.Pro407Thr)
|
rs2141795454
|
|
NM_001271.4(CHD2):c.121del (p.Gln41fs)
|
|
|
NM_001271.4(CHD2):c.1225A>C (p.Asn409His)
|
rs531251618
|
|
NM_001271.4(CHD2):c.1225A>T (p.Asn409Tyr)
|
|
|
NM_001271.4(CHD2):c.1234G>A (p.Glu412Lys)
|
rs541056569
|
|
NM_001271.4(CHD2):c.1234_1235delinsAC (p.Glu412Thr)
|
rs2053463440
|
|
NM_001271.4(CHD2):c.1238A>G (p.Tyr413Cys)
|
|
|
NM_001271.4(CHD2):c.1244G>A (p.Cys415Tyr)
|
|
|
NM_001271.4(CHD2):c.1254G>A (p.Met418Ile)
|
|
|
NM_001271.4(CHD2):c.1260C>G (p.Leu420=)
|
rs772268139
|
|
NM_001271.4(CHD2):c.1272G>A (p.Glu424=)
|
|
|
NM_001271.4(CHD2):c.1282G>C (p.Glu428Gln)
|
|
|
NM_001271.4(CHD2):c.1284A>G (p.Glu428=)
|
rs2141795543
|
|
NM_001271.4(CHD2):c.1291G>C (p.Ala431Pro)
|
|
|
NM_001271.4(CHD2):c.1293C>T (p.Ala431=)
|
|
|
NM_001271.4(CHD2):c.1311_1318del (p.Phe437fs)
|
|
|
NM_001271.4(CHD2):c.1318T>C (p.Cys440Arg)
|
rs763507530
|
|
NM_001271.4(CHD2):c.1319G>T (p.Cys440Phe)
|
rs2053464128
|
|
NM_001271.4(CHD2):c.1327A>G (p.Ser443Gly)
|
rs2141795625
|
|
NM_001271.4(CHD2):c.1328G>C (p.Ser443Thr)
|
|
|
NM_001271.4(CHD2):c.1334A>G (p.His445Arg)
|
rs750053293
|
|
NM_001271.4(CHD2):c.1347C>T (p.Asn449=)
|
|
|
NM_001271.4(CHD2):c.1357A>G (p.Ile453Val)
|
rs144393676
|
|
NM_001271.4(CHD2):c.1372T>C (p.Cys458Arg)
|
rs1769067223
|
|
NM_001271.4(CHD2):c.1377+12G>T
|
|
|
NM_001271.4(CHD2):c.1377+16G>T
|
rs1182159823
|
|
NM_001271.4(CHD2):c.1377+4T>C
|
rs2053464708
|
|
NM_001271.4(CHD2):c.1377+6G>A
|
rs2053464769
|
|
NM_001271.4(CHD2):c.1378-14C>T
|
|
|
NM_001271.4(CHD2):c.1378-15G>A
|
|
|
NM_001271.4(CHD2):c.1378-15G>C
|
rs2053515097
|
|
NM_001271.4(CHD2):c.1380C>T (p.Ala460=)
|
|
|
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer)
|
rs1567138270
|
|
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter)
|
rs398123000
|
|
NM_001271.4(CHD2):c.140G>A (p.Ser47Asn)
|
|
|
NM_001271.4(CHD2):c.1430del (p.Tyr476_Leu477insTer)
|
|
|
NM_001271.4(CHD2):c.1436G>C (p.Gly479Ala)
|
|
|
NM_001271.4(CHD2):c.1453C>T (p.Arg485Ter)
|
rs1567138301
|
|
NM_001271.4(CHD2):c.1497del (p.Trp499fs)
|
rs2141802578
|
|
NM_001271.4(CHD2):c.1502+18A>G
|
|
|
NM_001271.4(CHD2):c.1502+19G>T
|
|
|
NM_001271.4(CHD2):c.1502+4G>A
|
|
|
NM_001271.4(CHD2):c.1503-10C>T
|
|
|
NM_001271.4(CHD2):c.1503-19T>C
|
rs1390489313
|
|
NM_001271.4(CHD2):c.1503-20T>C
|
|
|
NM_001271.4(CHD2):c.1503-2A>G
|
|
|
NM_001271.4(CHD2):c.1504_1505delAA (p.Lys501_Asn502insTer)
|
|
|
NM_001271.4(CHD2):c.1508A>C (p.Asn503Thr)
|
|
|
NM_001271.4(CHD2):c.151A>G (p.Ser51Gly)
|
|
|
NM_001271.4(CHD2):c.1521T>G (p.Leu507=)
|
rs2141811515
|
|
NM_001271.4(CHD2):c.1524T>G (p.Ala508=)
|
|
|
NM_001271.4(CHD2):c.1535G>C (p.Gly512Ala)
|
rs2053579153
|
|
NM_001271.4(CHD2):c.1541dup (p.Thr516fs)
|
rs2053579191
|
|
NM_001271.4(CHD2):c.154G>A (p.Glu52Lys)
|
|
|
NM_001271.4(CHD2):c.1558A>G (p.Ile520Val)
|
rs773793367
|
|
NM_001271.4(CHD2):c.1575C>A (p.Tyr525Ter)
|
|
|
NM_001271.4(CHD2):c.1576C>T (p.Leu526=)
|
rs2141811552
|
|
NM_001271.4(CHD2):c.1581C>T (p.Phe527=)
|
rs2053579395
|
|
NM_001271.4(CHD2):c.158C>T (p.Ser53Leu)
|
rs368237024
|
|
NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)
|
|
|
NM_001271.4(CHD2):c.159G>T (p.Ser53=)
|
|
|
NM_001271.4(CHD2):c.1602C>T (p.Gly534=)
|
rs2141811584
|
|
NM_001271.4(CHD2):c.1603C>T (p.Pro535Ser)
|
|
|
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg)
|
rs1567139944
|
|
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile)
|
rs1368222485
|
|
NM_001271.4(CHD2):c.1629C>G (p.Ser543=)
|
|
|
NM_001271.4(CHD2):c.1632C>T (p.Thr544=)
|
|
|
NM_001271.4(CHD2):c.1637_1638del (p.Thr546fs)
|
rs2141811616
|
|
NM_001271.4(CHD2):c.1641A>G (p.Ser547=)
|
|
|
NM_001271.4(CHD2):c.1645C>A (p.Gln549Lys)
|
rs1392359380
|
|
NM_001271.4(CHD2):c.1645C>T (p.Gln549Ter)
|
|
|
NM_001271.4(CHD2):c.1650_1653del (p.Arg550fs)
|
rs886041628
|
|
NM_001271.4(CHD2):c.1666G>A (p.Ala556Thr)
|
rs2053579900
|
|
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu)
|
rs1060503520
|
|
NM_001271.4(CHD2):c.1686G>C (p.Val562=)
|
rs2141811679
|
|
NM_001271.4(CHD2):c.1702C>G (p.Leu568Val)
|
|
|
NM_001271.4(CHD2):c.1719+18G>T
|
|
|
NM_001271.4(CHD2):c.1719G>A (p.Thr573=)
|
rs1057519228
|
|
NM_001271.4(CHD2):c.171T>C (p.Ser57=)
|
rs2053018449
|
|
NM_001271.4(CHD2):c.171T>G (p.Ser57=)
|
|
|
NM_001271.4(CHD2):c.1720-155_1727delinsT
|
rs1596406306
|
|
NM_001271.4(CHD2):c.1720-17A>C
|
|
|
NM_001271.4(CHD2):c.1720-17A>G
|
|
|
NM_001271.4(CHD2):c.1720-3T>C
|
rs759231634
|
|
NM_001271.4(CHD2):c.1720-7C>T
|
|
|
NM_001271.4(CHD2):c.1720-8T>C
|
rs2053606565
|
|
NM_001271.4(CHD2):c.1720A>C (p.Ile574Leu)
|
rs2141814804
|
|
NM_001271.4(CHD2):c.1723C>A (p.Arg575=)
|
|
|
NM_001271.4(CHD2):c.1729T>C (p.Tyr577His)
|
rs2141814817
|
|
NM_001271.4(CHD2):c.1729T>G (p.Tyr577Asp)
|
rs2141814817
|
|
NM_001271.4(CHD2):c.1737G>C (p.Trp579Cys)
|
rs2141814824
|
|
NM_001271.4(CHD2):c.1738A>C (p.Ile580Leu)
|
|
|
NM_001271.4(CHD2):c.1745C>G (p.Ser582Cys)
|
rs2053606798
|
|
NM_001271.4(CHD2):c.1753A>G (p.Lys585Glu)
|
rs2141814847
|
|
NM_001271.4(CHD2):c.1754_1785del (p.Lys585fs)
|
rs2053606835
|
|
NM_001271.4(CHD2):c.1756A>C (p.Arg586=)
|
rs1596406455
|
|
NM_001271.4(CHD2):c.1757G>A (p.Arg586Lys)
|
rs2141814855
|
|
NM_001271.4(CHD2):c.1759T>C (p.Leu587=)
|
|
|
NM_001271.4(CHD2):c.1771G>A (p.Ala591Thr)
|
rs1060503521
|
|
NM_001271.4(CHD2):c.1774C>T (p.Leu592Phe)
|
rs2141814881
|
|
NM_001271.4(CHD2):c.1778T>G (p.Ile593Arg)
|
rs2053607137
|
|
NM_001271.4(CHD2):c.1785A>G (p.Thr595=)
|
rs1192477751
|
|
NM_001271.4(CHD2):c.1787_1788del (p.Thr595_Tyr596insTer)
|
rs2141814886
|
|
NM_001271.4(CHD2):c.1791G>A (p.Glu597=)
|
|
|
NM_001271.4(CHD2):c.1809+15T>A
|
|
|
NM_001271.4(CHD2):c.1809+1G>A
|
rs1057520592
|
|
NM_001271.4(CHD2):c.1810-20C>G
|
|
|
NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)
|
|
|
NM_001271.4(CHD2):c.1814_1815del (p.Val605fs)
|
rs2141816511
|
|
NM_001271.4(CHD2):c.1815G>A (p.Val605=)
|
|
|
NM_001271.4(CHD2):c.1833G>A (p.Trp611Ter)
|
rs2141816525
|
|
NM_001271.4(CHD2):c.1836C>G (p.Ala612=)
|
|
|
NM_001271.4(CHD2):c.1838T>C (p.Phe613Ser)
|
|
|
NM_001271.4(CHD2):c.1858del (p.His620fs)
|
|
|
NM_001271.4(CHD2):c.1861C>T (p.Arg621Trp)
|
rs1064795815
|
|
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro)
|
rs2141816539
|
|
NM_001271.4(CHD2):c.1874A>G (p.Asp625Gly)
|
rs2141816546
|
|
NM_001271.4(CHD2):c.1880_1883del (p.Ser627fs)
|
rs2141816549
|
|
NM_001271.4(CHD2):c.1881T>C (p.Ser627=)
|
rs2141816554
|
|
NM_001271.4(CHD2):c.1883del (p.Leu628fs)
|
rs2141816557
|
|
NM_001271.4(CHD2):c.188_191del (p.Gln63fs)
|
|
|
NM_001271.4(CHD2):c.1894dup (p.Thr632fs)
|
rs2053619207
|
|
NM_001271.4(CHD2):c.1897_1898del (p.Leu633fs)
|
rs2053619257
|
|
NM_001271.4(CHD2):c.1903_1906del (p.Asp635fs)
|
|
|
NM_001271.4(CHD2):c.1916A>G (p.Asn639Ser)
|
|
|
NM_001271.4(CHD2):c.1920T>C (p.His640=)
|
rs755517341
|
|
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
|
rs2053619460
|
|
NM_001271.4(CHD2):c.1935G>A (p.Thr645=)
|
rs779686192
|
|
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)
|
rs1567141162
|
|
NM_001271.4(CHD2):c.1943C>G (p.Pro648Arg)
|
|
|
NM_001271.4(CHD2):c.194A>C (p.Glu65Ala)
|
rs2053018824
|
|
NM_001271.4(CHD2):c.1955C>A (p.Ser652Tyr)
|
|
|
NM_001271.4(CHD2):c.1956C>A (p.Ser652=)
|
|
|
NM_001271.4(CHD2):c.1961A>G (p.Lys654Arg)
|
|
|
NM_001271.4(CHD2):c.1968_1969dup (p.Trp657fs)
|
|
|
NM_001271.4(CHD2):c.1978C>A (p.Leu660Met)
|
rs2141816626
|
|
NM_001271.4(CHD2):c.1986T>C (p.Phe662=)
|
|
|
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser)
|
rs768407397
|
|
NM_001271.4(CHD2):c.2000+13C>T
|
|
|
NM_001271.4(CHD2):c.2000+15G>C
|
|
|
NM_001271.4(CHD2):c.2000+4A>G
|
|
|
NM_001271.4(CHD2):c.2000+9C>T
|
|
|
NM_001271.4(CHD2):c.2001-20C>G
|
|
|
NM_001271.4(CHD2):c.2001-5C>G
|
|
|
NM_001271.4(CHD2):c.2001G>A (p.Lys667=)
|
rs2053779282
|
|
NM_001271.4(CHD2):c.2005G>C (p.Glu669Gln)
|
|
|
NM_001271.4(CHD2):c.2010T>G (p.Phe670Leu)
|
rs1165969857
|
|
NM_001271.4(CHD2):c.2013G>A (p.Trp671Ter)
|
|
|
NM_001271.4(CHD2):c.2019T>C (p.Asp673=)
|
|
|
NM_001271.4(CHD2):c.2032dup (p.His678fs)
|
|
|
NM_001271.4(CHD2):c.2035G>A (p.Gly679Arg)
|
rs867188529
|
|
NM_001271.4(CHD2):c.2043G>T (p.Gly681=)
|
|
|
NM_001271.4(CHD2):c.2045G>T (p.Arg682Ile)
|
|
|
NM_001271.4(CHD2):c.204C>G (p.Ser68Arg)
|
rs150919373
|
|
NM_001271.4(CHD2):c.204C>T (p.Ser68=)
|
|
|
NM_001271.4(CHD2):c.2062A>C (p.Ser688Arg)
|
|
|
NM_001271.4(CHD2):c.2067T>G (p.Leu689=)
|
|
|
NM_001271.4(CHD2):c.2070T>C (p.His690=)
|
|
|
NM_001271.4(CHD2):c.2076G>A (p.Val692=)
|
|
|
NM_001271.4(CHD2):c.2076G>T (p.Val692=)
|
|
|
NM_001271.4(CHD2):c.2077C>T (p.Leu693=)
|
|
|
NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)
|
|
|
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe)
|
rs2053779861
|
|
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
|
|
NM_001271.4(CHD2):c.2097G>T (p.Arg699=)
|
|
|
NM_001271.4(CHD2):c.20A>G (p.Lys7Arg)
|
rs2052524601
|
|
NM_001271.4(CHD2):c.2112T>C (p.Asp704=)
|
|
|
NM_001271.4(CHD2):c.2118G>A (p.Glu706=)
|
rs763045714
|
|
NM_001271.4(CHD2):c.2124C>T (p.Ser708=)
|
|
|
NM_001271.4(CHD2):c.2125C>T (p.Leu709Phe)
|
rs2141830674
|
|
NM_001271.4(CHD2):c.2134A>G (p.Lys712Glu)
|
|
|
NM_001271.4(CHD2):c.214G>T (p.Gly72Cys)
|
|
|
NM_001271.4(CHD2):c.2175G>C (p.Gln725His)
|
|
|
NM_001271.4(CHD2):c.2180A>G (p.Gln727Arg)
|
rs2141830697
|
|
NM_001271.4(CHD2):c.2189+15G>C
|
|
|
NM_001271.4(CHD2):c.2189+19T>C
|
|
|
NM_001271.4(CHD2):c.2189+8C>G
|
rs1486555733
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
NM_001271.4(CHD2):c.2189+8_2189+19del
|
|
|
NM_001271.4(CHD2):c.2190-1G>C
|
rs2053845402
|
|
NM_001271.4(CHD2):c.219C>A (p.Ser73=)
|
|
|
NM_001271.4(CHD2):c.2211C>T (p.Tyr737=)
|
|
|
NM_001271.4(CHD2):c.2214G>C (p.Lys738Asn)
|
|
|
NM_001271.4(CHD2):c.2223C>T (p.Ala741=)
|
|
|
NM_001271.4(CHD2):c.2238C>A (p.Gly746=)
|
|
|
NM_001271.4(CHD2):c.2244A>G (p.Thr748=)
|
rs760029815
|
|
NM_001271.4(CHD2):c.2257A>G (p.Asn753Asp)
|
rs2141835724
|
|
NM_001271.4(CHD2):c.225C>T (p.Ser75=)
|
rs144667627
|
|
NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
|
|
|
NM_001271.4(CHD2):c.2279A>C (p.Lys760Thr)
|
rs2141835731
|
|
NM_001271.4(CHD2):c.2280A>G (p.Lys760=)
|
|
|
NM_001271.4(CHD2):c.2288_2291del (p.Asn763fs)
|
|
|
NM_001271.4(CHD2):c.2292C>A (p.His764Gln)
|
rs2141835739
|
|
NM_001271.4(CHD2):c.230C>T (p.Pro77Leu)
|
|
|
NM_001271.4(CHD2):c.2310C>T (p.Pro770=)
|
|
|
NM_001271.4(CHD2):c.231A>C (p.Pro77=)
|
|
|
NM_001271.4(CHD2):c.2337A>C (p.Gly779=)
|
rs138084718
|
|
NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro)
|
rs2053846412
|
|
NM_001271.4(CHD2):c.2341dup (p.Glu781fs)
|
|
|
NM_001271.4(CHD2):c.2349T>C (p.Leu783=)
|
rs1285009362
|
|
NM_001271.4(CHD2):c.234C>T (p.Val78=)
|
|
|
NM_001271.4(CHD2):c.2352+10del
|
rs1596419038
|
|
NM_001271.4(CHD2):c.2352+15A>G
|
|
|
NM_001271.4(CHD2):c.2352+7_2352+9del
|
rs775279701
|
|
NM_001271.4(CHD2):c.2353-15C>T
|
|
|
NM_001271.4(CHD2):c.2353-16T>C
|
|
|
NM_001271.4(CHD2):c.2353-18T>C
|
|
|
NM_001271.4(CHD2):c.2353-3C>T
|
rs558236184
|
|
NM_001271.4(CHD2):c.2358C>T (p.Leu786=)
|
rs760012115
|
|
NM_001271.4(CHD2):c.235C>G (p.Leu79Val)
|
rs1555437429
|
|
NM_001271.4(CHD2):c.2362A>C (p.Arg788=)
|
|
|
NM_001271.4(CHD2):c.2363G>A (p.Arg788Lys)
|
rs2141836184
|
|
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
|
|
|
NM_001271.4(CHD2):c.2375A>G (p.Lys792Arg)
|
|
|
NM_001271.4(CHD2):c.2377T>G (p.Leu793Val)
|
|
|
NM_001271.4(CHD2):c.237C>T (p.Leu79=)
|
|
|
NM_001271.4(CHD2):c.239C>A (p.Pro80Gln)
|
|
|
NM_001271.4(CHD2):c.2402C>A (p.Thr801Lys)
|
rs372801085
|
|
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg)
|
rs372801085
|
|
NM_001271.4(CHD2):c.2403A>G (p.Thr801=)
|
rs2141836198
|
|
NM_001271.4(CHD2):c.240A>G (p.Pro80=)
|
rs2141746164
|
|
NM_001271.4(CHD2):c.2411G>A (p.Arg804Gln)
|
|
|
NM_001271.4(CHD2):c.2412A>T (p.Arg804=)
|
rs2141836205
|
|
NM_001271.4(CHD2):c.2418G>A (p.Arg806=)
|
rs1330473840
|
|
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter)
|
rs146691368
|
|
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro)
|
rs1596419511
|
|
NM_001271.4(CHD2):c.2434A>G (p.Ile812Val)
|
rs2141836222
|
|
NM_001271.4(CHD2):c.2438T>G (p.Phe813Cys)
|
rs2053851669
|
|
NM_001271.4(CHD2):c.245C>G (p.Ala82Gly)
|
rs548561366
|
|
NM_001271.4(CHD2):c.2464A>G (p.Ile822Val)
|
|
|
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
|
|
|
NM_001271.4(CHD2):c.2475A>G (p.Glu825=)
|
|
|
NM_001271.4(CHD2):c.247A>C (p.Lys83Gln)
|
|
|
NM_001271.4(CHD2):c.2497C>T (p.Pro833Ser)
|
rs2053851835
|
|
NM_001271.4(CHD2):c.2502C>T (p.Phe834=)
|
rs1461571191
|
|
NM_001271.4(CHD2):c.2505+16T>A
|
|
|
NM_001271.4(CHD2):c.2505+4A>G
|
rs767309501
|
|
NM_001271.4(CHD2):c.2505+9A>G
|
|
|
NM_001271.4(CHD2):c.2506-14G>T
|
|
|
NM_001271.4(CHD2):c.2506-17G>A
|
rs2141839109
|
|
NM_001271.4(CHD2):c.2506-4A>G
|
rs1259027522
|
|
NM_001271.4(CHD2):c.2510T>C (p.Leu837Pro)
|
rs2141839131
|
|
NM_001271.4(CHD2):c.2511G>T (p.Leu837=)
|
rs2053887597
|
|
NM_001271.4(CHD2):c.2535C>A (p.Ile845=)
|
|
|
NM_001271.4(CHD2):c.2536C>G (p.Arg846Gly)
|
rs2141839141
|
|
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter)
|
rs2141839141
|
|
NM_001271.4(CHD2):c.2544G>A (p.Gln848=)
|
rs2053887752
|
|
NM_001271.4(CHD2):c.2547A>G (p.Ala849=)
|
rs1596423292
|
|
NM_001271.4(CHD2):c.2555A>G (p.His852Arg)
|
rs2053887900
|
|
NM_001271.4(CHD2):c.2561A>G (p.Asn854Ser)
|
|
|
NM_001271.4(CHD2):c.2567A>G (p.Asp856Gly)
|
rs864309541
|
|
NM_001271.4(CHD2):c.2571G>A (p.Gly857=)
|
rs2141839178
|
|
NM_001271.4(CHD2):c.2577+15G>A
|
|
|
NM_001271.4(CHD2):c.2577+7T>G
|
|
|
NM_001271.4(CHD2):c.2577+8A>G
|
rs867398061
|
|
NM_001271.4(CHD2):c.2577+9T>C
|
|
|
NM_001271.4(CHD2):c.2583C>G (p.Phe861Leu)
|
rs2141843170
|
|
NM_001271.4(CHD2):c.2587_2591del (p.Phe863fs)
|
rs2141843174
|
|
NM_001271.4(CHD2):c.2592G>A (p.Leu864=)
|
rs2141843178
|
|
NM_001271.4(CHD2):c.2595C>G (p.Leu865=)
|
rs1478427410
|
|
NM_001271.4(CHD2):c.2595C>T (p.Leu865=)
|
|
|
NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter)
|
rs1085308000
|
|
NM_001271.4(CHD2):c.2597C>T (p.Ser866Leu)
|
rs1085308000
|
|
NM_001271.4(CHD2):c.2598G>T (p.Ser866=)
|
|
|
NM_001271.4(CHD2):c.2614C>T (p.Leu872=)
|
rs2141843184
|
|
NM_001271.4(CHD2):c.2617G>A (p.Gly873Arg)
|
|
|
NM_001271.4(CHD2):c.2628G>A (p.Leu876=)
|
|
|
NM_001271.4(CHD2):c.2646C>T (p.Val882=)
|
|
|
NM_001271.4(CHD2):c.2648dup (p.Ile884fs)
|
|
|
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
|
rs1596427937
|
|
NM_001271.4(CHD2):c.2667G>C (p.Trp889Cys)
|
rs2141843220
|
|
NM_001271.4(CHD2):c.2671C>T (p.Pro891Ser)
|
|
|
NM_001271.4(CHD2):c.2682C>T (p.Asp894=)
|
|
|
NM_001271.4(CHD2):c.2686C>G (p.Gln896Glu)
|
rs2141843235
|
|
NM_001271.4(CHD2):c.2698C>G (p.Arg900Gly)
|
rs1567149943
|
|
NM_001271.4(CHD2):c.2698C>T (p.Arg900Ter)
|
rs1567149943
|
|
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)
|
rs1567149946
|
|
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu)
|
rs1567149946
|
|
NM_001271.4(CHD2):c.2700A>G (p.Arg900=)
|
|
|
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr)
|
rs1596427988
|
|
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val)
|
rs2141843246
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
NM_001271.4(CHD2):c.2708G>T (p.Arg903Ile)
|
rs2141843253
|
|
NM_001271.4(CHD2):c.2716C>G (p.Gln906Glu)
|
|
|
NM_001271.4(CHD2):c.2727+16C>T
|
|
|
NM_001271.4(CHD2):c.2727+20T>A
|
|
|
NM_001271.4(CHD2):c.2727+5G>T
|
|
|
NM_001271.4(CHD2):c.2727+7A>G
|
rs1408693780
|
|
NM_001271.4(CHD2):c.2727+9G>A
|
rs1245946446
|
|
NM_001271.4(CHD2):c.2728-12del
|
|
|
NM_001271.4(CHD2):c.2728-13C>A
|
|
|
NM_001271.4(CHD2):c.2728-20A>T
|
|
|
NM_001271.4(CHD2):c.2728-8T>C
|
rs762774089
|
|
NM_001271.4(CHD2):c.2739C>A (p.Tyr913Ter)
|
|
|
NM_001271.4(CHD2):c.2743T>C (p.Leu915=)
|
rs112279925
|
|
NM_001271.4(CHD2):c.2749A>G (p.Thr917Ala)
|
rs766507274
|
|
NM_001271.4(CHD2):c.274C>T (p.Arg92Trp)
|
|
|
NM_001271.4(CHD2):c.2759C>T (p.Thr920Ile)
|
rs2141844210
|
|
NM_001271.4(CHD2):c.2765dup (p.Glu923fs)
|
rs1555442886
|
|
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer)
|
rs1555442889
|
|
NM_001271.4(CHD2):c.2793G>T (p.Lys931Asn)
|
|
|
NM_001271.4(CHD2):c.2810A>C (p.His937Pro)
|
rs2053946385
|
|
NM_001271.4(CHD2):c.2821C>T (p.Gln941Ter)
|
rs2141844243
|
|
NM_001271.4(CHD2):c.2825G>C (p.Arg942Pro)
|
rs2141844247
|
|
NM_001271.4(CHD2):c.2826_2827insTGGC (p.Met943fs)
|
rs2141844251
|
|
NM_001271.4(CHD2):c.2827A>G (p.Met943Val)
|
|
|
NM_001271.4(CHD2):c.2847G>A (p.Thr949=)
|
rs756812749
|
|
NM_001271.4(CHD2):c.2849_2855del (p.Ile950fs)
|
|
|
NM_001271.4(CHD2):c.2856A>T (p.Glu952Asp)
|
rs1388780876
|
|
NM_001271.4(CHD2):c.2858A>G (p.Asn953Ser)
|
rs2141844278
|
|
NM_001271.4(CHD2):c.2864C>G (p.Ser955Ter)
|
|
|
NM_001271.4(CHD2):c.2869A>G (p.Arg957Gly)
|
|
|
NM_001271.4(CHD2):c.2871_2876+15dup
|
|
|
NM_001271.4(CHD2):c.2876+10A>G
|
rs2053946994
|
|
NM_001271.4(CHD2):c.2876+1G>T
|
|
|
NM_001271.4(CHD2):c.2876+7G>T
|
rs2141844294
|
|
NM_001271.4(CHD2):c.2877-17A>G
|
rs764609850
|
|
NM_001271.4(CHD2):c.2877-4A>G
|
|
|
NM_001271.4(CHD2):c.2877-5C>T
|
rs1248829265
|
|
NM_001271.4(CHD2):c.2877C>T (p.Asn959=)
|
|
|
NM_001271.4(CHD2):c.2882del (p.Asn961fs)
|
|
|
NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr)
|
|
|
NM_001271.4(CHD2):c.2888_2889insAT (p.Phe963fs)
|
rs2141846356
|
|
NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile)
|
rs2141846369
|
|
NM_001271.4(CHD2):c.2899dup (p.Glu967fs)
|
|
|
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile)
|
rs2053970198
|
|
NM_001271.4(CHD2):c.294+19A>G
|
|
|
NM_001271.4(CHD2):c.294+20G>A
|
|
|
NM_001271.4(CHD2):c.294+3A>G
|
rs2141746246
|
|
NM_001271.4(CHD2):c.294+7A>G
|
rs1351696136
|
|
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)
|
|
|
NM_001271.4(CHD2):c.2949G>A (p.Leu983=)
|
|
|
NM_001271.4(CHD2):c.295-12_295-11del
|
|
|
NM_001271.4(CHD2):c.2955G>C (p.Gly985=)
|
|
|
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)
|
|
|
NM_001271.4(CHD2):c.2973+18_2973+23del
|
|
|
NM_001271.4(CHD2):c.2973+8A>T
|
|
|
NM_001271.4(CHD2):c.2973+9C>T
|
rs1596431717
|
|
NM_001271.4(CHD2):c.2973G>A (p.Gln991=)
|
rs903186613
|
|
NM_001271.4(CHD2):c.2974-10G>A
|
|
|
NM_001271.4(CHD2):c.2974-3T>C
|
rs778558788
|
|
NM_001271.4(CHD2):c.2974-4T>C
|
|
|
NM_001271.4(CHD2):c.2977A>G (p.Met993Val)
|
rs2053978485
|
|
NM_001271.4(CHD2):c.2982T>C (p.Asp994=)
|
rs372974686
|
|
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp)
|
rs758134774
|
|
NM_001271.4(CHD2):c.3000G>A (p.Arg1000=)
|
|
|
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer)
|
rs1064796496
|
|
NM_001271.4(CHD2):c.3021T>C (p.Asn1007=)
|
rs2141847120
|
|
NM_001271.4(CHD2):c.3025G>T (p.Val1009Leu)
|
rs1064794528
|
|
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala)
|
rs2053978897
|
|
NM_001271.4(CHD2):c.3036T>C (p.Ser1012=)
|
rs768946382
|
|
NM_001271.4(CHD2):c.3063dup (p.Lys1022Ter)
|
|
|
NM_001271.4(CHD2):c.3066+19G>A
|
|
|
NM_001271.4(CHD2):c.3066+20A>G
|
rs946119641
|
|
NM_001271.4(CHD2):c.3067-10C>G
|
rs2141850547
|
|
NM_001271.4(CHD2):c.3078T>C (p.Phe1026=)
|
rs2141850566
|
|
NM_001271.4(CHD2):c.3096A>C (p.Glu1032Asp)
|
|
|
NM_001271.4(CHD2):c.3096AGA[1] (p.Glu1034del)
|
rs1439253837
|
|
NM_001271.4(CHD2):c.30GGA[1] (p.Glu11del)
|
|
|
NM_001271.4(CHD2):c.3100G>T (p.Glu1034Ter)
|
rs2141850583
|
|
NM_001271.4(CHD2):c.3106G>T (p.Glu1036Ter)
|
|
|
NM_001271.4(CHD2):c.3111G>A (p.Glu1037=)
|
rs2141850590
|
|
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
|
|
|
NM_001271.4(CHD2):c.3113G>A (p.Arg1038His)
|
|
|
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu)
|
rs150268140
|
|
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)
|
rs150268140
|
|
NM_001271.4(CHD2):c.3128G>A (p.Trp1043Ter)
|
|
|
NM_001271.4(CHD2):c.3150A>C (p.Glu1050Asp)
|
rs1261637857
|
|
NM_001271.4(CHD2):c.3151C>A (p.Gln1051Lys)
|
|
|
NM_001271.4(CHD2):c.3153A>G (p.Gln1051=)
|
rs1312097410
|
|
NM_001271.4(CHD2):c.3156dup (p.Lys1053fs)
|
|
|
NM_001271.4(CHD2):c.3158A>T (p.Lys1053Ile)
|
|
|
NM_001271.4(CHD2):c.3165A>G (p.Val1055=)
|
rs758991890
|
|
NM_001271.4(CHD2):c.3168G>A (p.Glu1056=)
|
rs1555443360
|
|
NM_001271.4(CHD2):c.3168G>T (p.Glu1056Asp)
|
rs1555443360
|
|
NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs)
|
rs2054015565
|
|
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp)
|
rs2141850669
|
|
NM_001271.4(CHD2):c.3237+19A>G
|
|
|
NM_001271.4(CHD2):c.3237+1G>A
|
|
|
NM_001271.4(CHD2):c.3237+20G>A
|
|
|
NM_001271.4(CHD2):c.3237+5T>G
|
rs1015228436
|
|
NM_001271.4(CHD2):c.3238-12G>A
|
rs1276545339
|
|
NM_001271.4(CHD2):c.3238-16C>T
|
rs2054030766
|
|
NM_001271.4(CHD2):c.3238-5C>G
|
rs1555443468
|
|
NM_001271.4(CHD2):c.3238-5C>T
|
rs1555443468
|
|
NM_001271.4(CHD2):c.3247A>G (p.Asn1083Asp)
|
|
|
NM_001271.4(CHD2):c.3264C>A (p.Asp1088Glu)
|
|
|
NM_001271.4(CHD2):c.3264C>T (p.Asp1088=)
|
|
|
NM_001271.4(CHD2):c.3265A>C (p.Thr1089Pro)
|
rs1596437938
|
|
NM_001271.4(CHD2):c.3275A>G (p.Lys1092Arg)
|
|
|
NM_001271.4(CHD2):c.3278G>A (p.Arg1093Lys)
|
rs2054031377
|
|
NM_001271.4(CHD2):c.3285C>G (p.Ala1095=)
|
|
|
NM_001271.4(CHD2):c.3298G>C (p.Ala1100Pro)
|
|
|
NM_001271.4(CHD2):c.3303T>C (p.Ser1101=)
|
|
|
NM_001271.4(CHD2):c.3306G>A (p.Glu1102=)
|
|
|
NM_001271.4(CHD2):c.3314C>T (p.Thr1105Met)
|
rs1567152717
|
|
NM_001271.4(CHD2):c.331C>A (p.Arg111=)
|
rs1040550014
|
|
NM_001271.4(CHD2):c.3323_3324del (p.Asp1107_Ser1108insTer)
|
rs2141851983
|
|
NM_001271.4(CHD2):c.3333C>T (p.Asp1111=)
|
|
|
NM_001271.4(CHD2):c.3338A>G (p.Lys1113Arg)
|
|
|
NM_001271.4(CHD2):c.3345G>A (p.Lys1115=)
|
rs2054031847
|
|
NM_001271.4(CHD2):c.3349A>T (p.Arg1117Ter)
|
rs777803897
|
|
NM_001271.4(CHD2):c.3355_3356del (p.Arg1119fs)
|
rs2141852009
|
|
NM_001271.4(CHD2):c.3360G>A (p.Pro1120=)
|
|
|
NM_001271.4(CHD2):c.3366T>A (p.Ser1122Arg)
|
|
|
NM_001271.4(CHD2):c.3370C>T (p.Arg1124Trp)
|
rs1454060267
|
|
NM_001271.4(CHD2):c.3378C>A (p.Asp1126Glu)
|
|
|
NM_001271.4(CHD2):c.3381C>T (p.Leu1127=)
|
|
|
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met)
|
rs776091604
|
|
NM_001271.4(CHD2):c.3387G>A (p.Glu1129=)
|
|
|
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
|
|
|
NM_001271.4(CHD2):c.338A>G (p.Asn113Ser)
|
|
|
NM_001271.4(CHD2):c.3392T>A (p.Phe1131Tyr)
|
rs2141852043
|
|
NM_001271.4(CHD2):c.3401C>G (p.Ala1134Gly)
|
|
|
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter)
|
rs773860345
|
|
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)
|
rs1057518128
|
|
NM_001271.4(CHD2):c.3412del (p.Arg1138fs)
|
rs2141852057
|
|
NM_001271.4(CHD2):c.3413+13T>A
|
|
|
NM_001271.4(CHD2):c.3413+16G>T
|
|
|
NM_001271.4(CHD2):c.3414-11C>T
|
rs2054119012
|
|
NM_001271.4(CHD2):c.3414-20T>C
|
|
|
NM_001271.4(CHD2):c.3414-2A>G
|
|
|
NM_001271.4(CHD2):c.3414-5C>T
|
|
|
NM_001271.4(CHD2):c.3414-5_3414-3del
|
|
|
NM_001271.4(CHD2):c.3417C>T (p.Phe1139=)
|
|
|
NM_001271.4(CHD2):c.341G>T (p.Arg114Leu)
|
|
|
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg)
|
rs1471418780
|
|
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp)
|
rs1596443241
|
|
NM_001271.4(CHD2):c.3455+11T>C
|
rs2141859897
|
|
NM_001271.4(CHD2):c.3455+12G>A
|
|
|
NM_001271.4(CHD2):c.3455+4_3455+5del
|
rs2054119330
|
|
NM_001271.4(CHD2):c.3455+9A>G
|
rs199958087
|
|
NM_001271.4(CHD2):c.3455G>A (p.Arg1152Gln)
|
|
|
NM_001271.4(CHD2):c.3456-15T>C
|
|
|
NM_001271.4(CHD2):c.3456-19C>G
|
rs780531827
|
|
NM_001271.4(CHD2):c.3456-3C>T
|
|
|
NM_001271.4(CHD2):c.3456-8C>T
|
rs1394301788
|
|
NM_001271.4(CHD2):c.346A>C (p.Arg116=)
|
|
|
NM_001271.4(CHD2):c.3471A>G (p.Ala1157=)
|
|
|
NM_001271.4(CHD2):c.3472C>T (p.Arg1158Cys)
|
|
|
NM_001271.4(CHD2):c.3473G>A (p.Arg1158His)
|
rs2054139096
|
|
NM_001271.4(CHD2):c.3476A>T (p.Asp1159Val)
|
rs2141861610
|
|
NM_001271.4(CHD2):c.3484C>G (p.Leu1162Val)
|
rs2141861616
|
|
NM_001271.4(CHD2):c.3486G>A (p.Leu1162=)
|
rs1229609376
|
|
NM_001271.4(CHD2):c.3486G>C (p.Leu1162=)
|
|
|
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu)
|
rs1555444210
|
|
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
|
|
|
NM_001271.4(CHD2):c.3497C>T (p.Ser1166Leu)
|
rs1064794438
|
|
NM_001271.4(CHD2):c.3515G>A (p.Arg1172His)
|
rs2054139326
|
|
NM_001271.4(CHD2):c.3519G>C (p.Leu1173=)
|
rs377400826
|
|
NM_001271.4(CHD2):c.3522T>C (p.Gly1174=)
|
|
|
NM_001271.4(CHD2):c.3526C>A (p.Leu1176Met)
|
rs1555444216
|
|
NM_001271.4(CHD2):c.3526C>T (p.Leu1176=)
|
|
|
NM_001271.4(CHD2):c.3537C>T (p.Asn1179=)
|
|
|
NM_001271.4(CHD2):c.3549A>G (p.Ser1183=)
|
|
|
NM_001271.4(CHD2):c.3565G>A (p.Glu1189Lys)
|
|
|
NM_001271.4(CHD2):c.3576G>A (p.Leu1192=)
|
|
|
NM_001271.4(CHD2):c.3579A>G (p.Lys1193=)
|
rs2141861699
|
|
NM_001271.4(CHD2):c.3584A>G (p.Asn1195Ser)
|
|
|
NM_001271.4(CHD2):c.3587C>G (p.Ala1196Gly)
|
|
|
NM_001271.4(CHD2):c.3589A>G (p.Ser1197Gly)
|
|
|
NM_001271.4(CHD2):c.3592G>C (p.Glu1198Gln)
|
rs757981280
|
|
NM_001271.4(CHD2):c.3595+14G>A
|
|
|
NM_001271.4(CHD2):c.3595+18dup
|
rs767906397
|
|
NM_001271.4(CHD2):c.3595+6C>T
|
|
|
NM_001271.4(CHD2):c.3595+9A>G
|
|
|
NM_001271.4(CHD2):c.3596-10T>C
|
|
|
NM_001271.4(CHD2):c.3596-10T>G
|
rs1596446956
|
|
NM_001271.4(CHD2):c.3596-6T>C
|
|
|
NM_001271.4(CHD2):c.359C>T (p.Ser120Leu)
|
|
|
NM_001271.4(CHD2):c.3602G>A (p.Gly1201Glu)
|
rs2054196855
|
|
NM_001271.4(CHD2):c.3606A>G (p.Pro1202=)
|
rs2054196905
|
|
NM_001271.4(CHD2):c.360G>A (p.Ser120=)
|
rs1409764161
|
|
NM_001271.4(CHD2):c.3613A>C (p.Arg1205=)
|
|
|
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter)
|
rs397514740
|
|
NM_001271.4(CHD2):c.3628A>G (p.Ile1210Val)
|
|
|
NM_001271.4(CHD2):c.3629T>G (p.Ile1210Ser)
|
rs2141867277
|
|
NM_001271.4(CHD2):c.362G>T (p.Arg121Leu)
|
rs1064795319
|
|
NM_001271.4(CHD2):c.3638_3644delinsAAAATGCACAGAAATGTCATCAAGAGGTTAANNNNNNNNNNATGCATTTCCCCAGTAGATGGGTCCTTGTACACCAAGACTTTTTGTTCGTCTTTGTACCAGAGTTTAGCCAAAG (p.Ser1213_Val1215delinsTer)
|
rs2141867280
|
|
NM_001271.4(CHD2):c.3646C>A (p.Gln1216Lys)
|
|
|
NM_001271.4(CHD2):c.3646C>G (p.Gln1216Glu)
|
|
|
NM_001271.4(CHD2):c.3651del (p.Asn1218fs)
|
|
|
NM_001271.4(CHD2):c.3651dup (p.Asn1218Ter)
|
|
|
NM_001271.4(CHD2):c.3662C>T (p.Ser1221Phe)
|
rs2054197204
|
|
NM_001271.4(CHD2):c.366T>G (p.Phe122Leu)
|
|
|
NM_001271.4(CHD2):c.3677A>C (p.Glu1226Ala)
|
|
|
NM_001271.4(CHD2):c.3679G>A (p.Glu1227Lys)
|
rs150583797
|
|
NM_001271.4(CHD2):c.3684G>A (p.Glu1228=)
|
rs766134171
|
|
NM_001271.4(CHD2):c.3687T>C (p.Phe1229=)
|
|
|
NM_001271.4(CHD2):c.3691A>G (p.Met1231Val)
|
rs1408881628
|
|
NM_001271.4(CHD2):c.3697C>T (p.His1233Tyr)
|
rs2054197453
|
|
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg)
|
rs2054197477
|
|
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
|
|
|
NM_001271.4(CHD2):c.3705T>C (p.Ser1235=)
|
|
|
NM_001271.4(CHD2):c.3708C>T (p.Ile1236=)
|
rs2054197617
|
|
NM_001271.4(CHD2):c.370A>G (p.Ile124Val)
|
|
|
NM_001271.4(CHD2):c.371T>C (p.Ile124Thr)
|
|
|
NM_001271.4(CHD2):c.3727A>G (p.Lys1243Glu)
|
|
|
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=)
|
rs2054197942
|
|
NM_001271.4(CHD2):c.3732A>G (p.Lys1244=)
|
|
|
NM_001271.4(CHD2):c.3733A>C (p.Lys1245Gln)
|
rs2054197954
|
|
NM_001271.4(CHD2):c.3734+20A>C
|
|
|
NM_001271.4(CHD2):c.3734+3G>T
|
|
|
NM_001271.4(CHD2):c.3734+9A>G
|
|
|
NM_001271.4(CHD2):c.3735-10C>T
|
|
|
NM_001271.4(CHD2):c.3735-11A>C
|
|
|
NM_001271.4(CHD2):c.3735-18T>C
|
|
|
NM_001271.4(CHD2):c.3735-6C>G
|
rs1235843668
|
|
NM_001271.4(CHD2):c.3735del (p.Lys1245fs)
|
rs752940775
|
|
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs)
|
rs752940775
|
|
NM_001271.4(CHD2):c.3738C>T (p.Tyr1246=)
|
rs2054200384
|
|
NM_001271.4(CHD2):c.3746C>T (p.Thr1249Ile)
|
|
|
NM_001271.4(CHD2):c.374A>C (p.Lys125Thr)
|
|
|
NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys)
|
rs2054200484
|
|
NM_001271.4(CHD2):c.3752G>A (p.Arg1251His)
|
|
|
NM_001271.4(CHD2):c.3759del (p.Ala1254fs)
|
|
|
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter)
|
rs1555444603
|
|
NM_001271.4(CHD2):c.3782G>C (p.Trp1261Ser)
|
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001271.4(CHD2):c.3787dup (p.Val1263fs)
|
rs869312877
|
|
NM_001271.4(CHD2):c.3801T>C (p.Ser1267=)
|
|
|
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
|
rs2054200789
|
|
NM_001271.4(CHD2):c.3805C>T (p.Leu1269=)
|
|
|
NM_001271.4(CHD2):c.3807G>A (p.Leu1269=)
|
rs1040196048
|
|
NM_001271.4(CHD2):c.3807G>T (p.Leu1269=)
|
rs1040196048
|
|
NM_001271.4(CHD2):c.381+11A>T
|
rs2141752541
|
|
NM_001271.4(CHD2):c.381+12A>G
|
|
|
NM_001271.4(CHD2):c.381+12del
|
rs778998281
|
|
NM_001271.4(CHD2):c.381+14G>C
|
|
|
NM_001271.4(CHD2):c.381+1G>A
|
rs2053081680
|
|
NM_001271.4(CHD2):c.3811C>T (p.Leu1271=)
|
|
|
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu)
|
rs2141867671
|
|
NM_001271.4(CHD2):c.3817A>G (p.Ile1273Val)
|
|
|
NM_001271.4(CHD2):c.382-12C>G
|
|
|
NM_001271.4(CHD2):c.382-14del
|
|
|
NM_001271.4(CHD2):c.382-17C>T
|
|
|
NM_001271.4(CHD2):c.382-20T>C
|
rs2141755276
|
|
NM_001271.4(CHD2):c.382-6C>A
|
rs756487303
|
|
NM_001271.4(CHD2):c.382-9A>C
|
rs1555437848
|
|
NM_001271.4(CHD2):c.3821A>T (p.Tyr1274Phe)
|
|
|
NM_001271.4(CHD2):c.3829G>A (p.Gly1277Ser)
|
rs1596447174
|
|
NM_001271.4(CHD2):c.3830G>C (p.Gly1277Ala)
|
|
|
NM_001271.4(CHD2):c.3833A>G (p.Tyr1278Cys)
|
rs1596447179
|
|
NM_001271.4(CHD2):c.3857C>T (p.Thr1286Ile)
|
|
|
NM_001271.4(CHD2):c.3862C>T (p.Pro1288Ser)
|
rs2054201108
|
|
NM_001271.4(CHD2):c.3865G>C (p.Glu1289Gln)
|
|
|
NM_001271.4(CHD2):c.3867G>C (p.Glu1289Asp)
|
rs1358081390
|
|
NM_001271.4(CHD2):c.3876A>T (p.Leu1292Phe)
|
|
|
NM_001271.4(CHD2):c.3879T>A (p.Thr1293=)
|
rs2054201169
|
|
NM_001271.4(CHD2):c.3885+16A>G
|
|
|
NM_001271.4(CHD2):c.3885+4A>G
|
rs1555444612
|
|
NM_001271.4(CHD2):c.3885+9C>T
|
|
|
NM_001271.4(CHD2):c.3886-10C>T
|
|
|
NM_001271.4(CHD2):c.3886-11dup
|
|
|
NM_001271.4(CHD2):c.3886-18C>T
|
|
|
NM_001271.4(CHD2):c.3886-1G>C
|
|
|
NM_001271.4(CHD2):c.3886-9T>C
|
|
|
NM_001271.4(CHD2):c.3891G>C (p.Leu1297=)
|
|
|
NM_001271.4(CHD2):c.3897G>T (p.Val1299=)
|
rs2141868862
|
|
NM_001271.4(CHD2):c.3902C>T (p.Thr1301Ile)
|
|
|
NM_001271.4(CHD2):c.3903A>G (p.Thr1301=)
|
rs200766577
|
|
NM_001271.4(CHD2):c.3906T>A (p.Asp1302Glu)
|
rs2141868872
|
|
NM_001271.4(CHD2):c.390C>T (p.Ser130=)
|
rs1555437851
|
|
NM_001271.4(CHD2):c.3913C>G (p.Pro1305Ala)
|
|
|
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter)
|
rs2054212444
|
|
NM_001271.4(CHD2):c.3927G>T (p.Gln1309His)
|
rs938005096
|
|
NM_001271.4(CHD2):c.392G>A (p.Gly131Glu)
|
|
|
NM_001271.4(CHD2):c.3936C>G (p.Thr1312=)
|
|
|
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
|
|
|
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter)
|
rs1555444702
|
|
NM_001271.4(CHD2):c.3938G>A (p.Arg1313Gln)
|
rs1131692012
|
|
NM_001271.4(CHD2):c.3938G>C (p.Arg1313Pro)
|
rs1131692012
|
|
NM_001271.4(CHD2):c.3938G>T (p.Arg1313Leu)
|
|
|
NM_001271.4(CHD2):c.3941C>T (p.Ala1314Val)
|
|
|
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
|
|
|
NM_001271.4(CHD2):c.3950T>C (p.Leu1317Ser)
|
rs2141868900
|
|
NM_001271.4(CHD2):c.3957G>T (p.Lys1319Asn)
|
rs2141868905
|
|
NM_001271.4(CHD2):c.3958C>T (p.Leu1320=)
|
rs2141868909
|
|
NM_001271.4(CHD2):c.3964A>G (p.Arg1322Gly)
|
rs1555444712
|
|
NM_001271.4(CHD2):c.3979AAG[1] (p.Lys1328del)
|
rs1410645881
|
|
NM_001271.4(CHD2):c.3981G>T (p.Lys1327Asn)
|
|
|
NM_001271.4(CHD2):c.3987_3988dup (p.Ala1330fs)
|
|
|
NM_001271.4(CHD2):c.3997G>A (p.Gly1333Ser)
|
|
|
NM_001271.4(CHD2):c.4008+10C>A
|
|
|
NM_001271.4(CHD2):c.4008+16G>T
|
|
|
NM_001271.4(CHD2):c.4008+17C>G
|
rs2141868997
|
|
NM_001271.4(CHD2):c.4008+19G>C
|
|
|
NM_001271.4(CHD2):c.4008+5G>A
|
rs2141868973
|
|
NM_001271.4(CHD2):c.4008+8C>A
|
|
|
NM_001271.4(CHD2):c.4008+9G>A
|
|
|
NM_001271.4(CHD2):c.4008+9G>C
|
rs369142709
|
|
NM_001271.4(CHD2):c.4008+9G>T
|
rs369142709
|
|
NM_001271.4(CHD2):c.4009-19A>C
|
rs2141871654
|
|
NM_001271.4(CHD2):c.4009-19A>G
|
rs2141871654
|
|
NM_001271.4(CHD2):c.4009-2A>G
|
|
|
NM_001271.4(CHD2):c.4009-3C>T
|
|
|
NM_001271.4(CHD2):c.4009G>A (p.Ala1337Thr)
|
rs776072657
|
|
NM_001271.4(CHD2):c.4024C>T (p.Arg1342Trp)
|
|
|
NM_001271.4(CHD2):c.4025G>T (p.Arg1342Leu)
|
rs143503275
|
|
NM_001271.4(CHD2):c.4025_4026delinsTA (p.Arg1342Leu)
|
rs2141871683
|
|
NM_001271.4(CHD2):c.4033C>T (p.Arg1345Trp)
|
rs1273391509
|
|
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln)
|
rs751507887
|
|
NM_001271.4(CHD2):c.4035G>A (p.Arg1345=)
|
|
|
NM_001271.4(CHD2):c.4038A>G (p.Val1346=)
|
|
|
NM_001271.4(CHD2):c.4051A>G (p.Lys1351Glu)
|
|
|
NM_001271.4(CHD2):c.4067A>G (p.Lys1356Arg)
|
|
|
NM_001271.4(CHD2):c.4070A>G (p.Glu1357Gly)
|
rs2141871721
|
|
NM_001271.4(CHD2):c.4073A>C (p.Glu1358Ala)
|
rs2141871726
|
|
NM_001271.4(CHD2):c.4074G>A (p.Glu1358=)
|
|
|
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu)
|
rs1567159136
|
|
NM_001271.4(CHD2):c.4084G>C (p.Glu1362Gln)
|
|
|
NM_001271.4(CHD2):c.4089T>G (p.Leu1363=)
|
rs2141871747
|
|
NM_001271.4(CHD2):c.4095T>C (p.Ser1365=)
|
rs777131411
|
|
NM_001271.4(CHD2):c.4096C>T (p.Pro1366Ser)
|
|
|
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)
|
|
|
NM_001271.4(CHD2):c.4099A>C (p.Arg1367=)
|
|
|
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala)
|
rs2052525047
|
|
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter)
|
rs1567159145
|
|
NM_001271.4(CHD2):c.4108G>A (p.Asp1370Asn)
|
rs2054242398
|
|
NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp)
|
rs745311012
|
|
NM_001271.4(CHD2):c.4120G>A (p.Glu1374Lys)
|
|
|
NM_001271.4(CHD2):c.4125G>A (p.Glu1375=)
|
rs2054242561
|
|
NM_001271.4(CHD2):c.4133T>G (p.Val1378Gly)
|
rs2054242633
|
|
NM_001271.4(CHD2):c.4137+11G>C
|
|
|
NM_001271.4(CHD2):c.4137+2T>C
|
|
|
NM_001271.4(CHD2):c.4138-11T>C
|
|
|
NM_001271.4(CHD2):c.4138-18C>T
|
rs775111839
|
|
NM_001271.4(CHD2):c.4138-19_4138-18delinsTA
|
rs1555444947
|
|
NM_001271.4(CHD2):c.4142A>G (p.Asp1381Gly)
|
rs760717598
|
|
NM_001271.4(CHD2):c.4145G>T (p.Gly1382Val)
|
|
|
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
|
|
|
NM_001271.4(CHD2):c.4165A>G (p.Lys1389Glu)
|
|
|
NM_001271.4(CHD2):c.4170_4173del (p.Lys1390fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter)
|
rs3210462
|
|
NM_001271.4(CHD2):c.4176GAA[2] (p.Lys1395del)
|
|
|
NM_001271.4(CHD2):c.4176_4177del (p.Lys1393fs)
|
rs2141873663
|
|
NM_001271.4(CHD2):c.4184_4187del (p.Lys1395fs)
|
rs2141873672
|
|
NM_001271.4(CHD2):c.4188G>A (p.Glu1396=)
|
|
|
NM_001271.4(CHD2):c.4189A>T (p.Asn1397Tyr)
|
|
|
NM_001271.4(CHD2):c.4191CAAGGAGAA[1] (p.1397NKE[1])
|
rs779732210
|
|
NM_001271.4(CHD2):c.4207A>C (p.Lys1403Gln)
|
|
|
NM_001271.4(CHD2):c.4212A>T (p.Gln1404His)
|
|
|
NM_001271.4(CHD2):c.4217G>T (p.Ser1406Ile)
|
rs2054266595
|
|
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile)
|
rs1567159959
|
|
NM_001271.4(CHD2):c.4220C>A (p.Ser1407Tyr)
|
rs780455269
|
|
NM_001271.4(CHD2):c.4228G>A (p.Asp1410Asn)
|
rs775901148
|
|
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs)
|
rs864309543
|
|
NM_001271.4(CHD2):c.4235A>G (p.Glu1412Gly)
|
rs1064795470
|
|
NM_001271.4(CHD2):c.4236A>C (p.Glu1412Asp)
|
rs747843766
|
|
NM_001271.4(CHD2):c.4238G>A (p.Gly1413Glu)
|
|
|
NM_001271.4(CHD2):c.4257G>A (p.Lys1419=)
|
rs1318336358
|
|
NM_001271.4(CHD2):c.4258T>G (p.Ser1420Ala)
|
rs773012231
|
|
NM_001271.4(CHD2):c.4259C>T (p.Ser1420Leu)
|
|
|
NM_001271.4(CHD2):c.4260A>C (p.Ser1420=)
|
rs760422132
|
|
NM_001271.4(CHD2):c.4260A>G (p.Ser1420=)
|
rs760422132
|
|
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
|
|
|
NM_001271.4(CHD2):c.4278+1G>A
|
rs2141873750
|
|
NM_001271.4(CHD2):c.4278+20C>G
|
rs762068313
|
|
NM_001271.4(CHD2):c.4278+4ATG[3]
|
rs780977518
|
|
NM_001271.4(CHD2):c.4278+5T>A
|
rs202174434
|
|
NM_001271.4(CHD2):c.4278+7A>T
|
rs1000622773
|
|
NM_001271.4(CHD2):c.4279-12C>G
|
|
|
NM_001271.4(CHD2):c.4279-6dup
|
rs747909672
|
|
NM_001271.4(CHD2):c.4279C>G (p.Pro1427Ala)
|
|
|
NM_001271.4(CHD2):c.4288G>C (p.Gly1430Arg)
|
rs2054297469
|
|
NM_001271.4(CHD2):c.4289G>T (p.Gly1430Val)
|
|
|
NM_001271.4(CHD2):c.428G>A (p.Arg143Lys)
|
rs2053117542
|
|
NM_001271.4(CHD2):c.4296C>G (p.Ala1432=)
|
rs1596452047
|
|
NM_001271.4(CHD2):c.42G>C (p.Ser14=)
|
|
|
NM_001271.4(CHD2):c.4304C>T (p.Ser1435Leu)
|
|
|
NM_001271.4(CHD2):c.4304del (p.Ser1434_Ser1435insTer)
|
rs2141876515
|
|
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)
|
|
|
NM_001271.4(CHD2):c.4306A>G (p.Ser1436Gly)
|
rs889423529
|
|
NM_001271.4(CHD2):c.4310A>C (p.Lys1437Thr)
|
rs1308086750
|
|
NM_001271.4(CHD2):c.4318C>T (p.Arg1440Ter)
|
|
|
NM_001271.4(CHD2):c.4319G>A (p.Arg1440Gln)
|
|
|
NM_001271.4(CHD2):c.4319G>C (p.Arg1440Pro)
|
|
|
NM_001271.4(CHD2):c.4343C>T (p.Thr1448Ile)
|
rs2141876540
|
|
NM_001271.4(CHD2):c.4371A>T (p.Gly1457=)
|
|
|
NM_001271.4(CHD2):c.4413+13A>T
|
|
|
NM_001271.4(CHD2):c.4413+15C>G
|
|
|
NM_001271.4(CHD2):c.4413+18G>A
|
rs1331622431
|
|
NM_001271.4(CHD2):c.4413+19G>C
|
rs376928152
|
|
NM_001271.4(CHD2):c.4413+20G>A
|
|
|
NM_001271.4(CHD2):c.4413+21del
|
|
|
NM_001271.4(CHD2):c.4413+3A>G
|
rs2054298217
|
|
NM_001271.4(CHD2):c.4414-14T>C
|
|
|
NM_001271.4(CHD2):c.4414-17C>A
|
rs2054359181
|
|
NM_001271.4(CHD2):c.4414-19C>G
|
|
|
NM_001271.4(CHD2):c.4414-2A>G
|
rs2141881521
|
|
NM_001271.4(CHD2):c.443+16G>A
|
|
|
NM_001271.4(CHD2):c.443+1G>A
|
rs2141755359
|
|
NM_001271.4(CHD2):c.443+20A>G
|
|
|
NM_001271.4(CHD2):c.443+3_443+6del
|
rs2141755356
|
|
NM_001271.4(CHD2):c.4434C>T (p.Pro1478=)
|
rs199572989
|
|
NM_001271.4(CHD2):c.444-4A>C
|
rs369479687
|
|
NM_001271.4(CHD2):c.444-4A>G
|
rs369479687
|
|
NM_001271.4(CHD2):c.4440A>G (p.Lys1480=)
|
|
|
NM_001271.4(CHD2):c.4443G>C (p.Lys1481Asn)
|
|
|
NM_001271.4(CHD2):c.4450A>G (p.Lys1484Glu)
|
|
|
NM_001271.4(CHD2):c.446A>G (p.Glu149Gly)
|
|
|
NM_001271.4(CHD2):c.4470C>T (p.Asp1490=)
|
|
|
NM_001271.4(CHD2):c.4476G>A (p.Gly1492=)
|
|
|
NM_001271.4(CHD2):c.4489G>A (p.Glu1497Lys)
|
|
|
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter)
|
|
|
NM_001271.4(CHD2):c.4497G>A (p.Leu1499=)
|
|
|
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro)
|
rs1060503522
|
|
NM_001271.4(CHD2):c.44T>G (p.Leu15Arg)
|
|
|
NM_001271.4(CHD2):c.4503C>T (p.His1501=)
|
rs2054360183
|
|
NM_001271.4(CHD2):c.4505C>G (p.Thr1502Ser)
|
rs956620619
|
|
NM_001271.4(CHD2):c.4507C>T (p.Arg1503Trp)
|
rs764680752
|
|
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)
|
rs2141881607
|
|
NM_001271.4(CHD2):c.4513T>C (p.Cys1505Arg)
|
|
|
NM_001271.4(CHD2):c.4516C>T (p.Leu1506=)
|
|
|
NM_001271.4(CHD2):c.4525del (p.Ile1509fs)
|
|
|
NM_001271.4(CHD2):c.4546T>A (p.Cys1516Ser)
|
|
|
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr)
|
rs1183987736
|
|
NM_001271.4(CHD2):c.4557C>G (p.Ala1519=)
|
rs138253997
|
|
NM_001271.4(CHD2):c.4560C>T (p.Tyr1520=)
|
rs1596454969
|
|
NM_001271.4(CHD2):c.4567C>G (p.Gln1523Glu)
|
rs372786805
|
|
NM_001271.4(CHD2):c.456A>G (p.Lys152=)
|
rs2141773450
|
|
NM_001271.4(CHD2):c.4573C>G (p.His1525Asp)
|
rs2141881675
|
|
NM_001271.4(CHD2):c.4574A>G (p.His1525Arg)
|
rs2141881676
|
|
NM_001271.4(CHD2):c.4578C>A (p.Ile1526=)
|
|
|
NM_001271.4(CHD2):c.4578C>T (p.Ile1526=)
|
rs143876394
|
|
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu)
|
rs755510106
|
|
NM_001271.4(CHD2):c.4584C>A (p.Leu1528=)
|
|
|
NM_001271.4(CHD2):c.4584C>T (p.Leu1528=)
|
rs543526502
|
|
NM_001271.4(CHD2):c.4587G>A (p.Trp1529Ter)
|
rs2141881688
|
|
NM_001271.4(CHD2):c.4592+11T>G
|
|
|
NM_001271.4(CHD2):c.4592+3A>G
|
|
|
NM_001271.4(CHD2):c.4592+4A>G
|
rs1450865656
|
|
NM_001271.4(CHD2):c.4592+5C>T
|
|
|
NM_001271.4(CHD2):c.4592+7A>C
|
|
|
NM_001271.4(CHD2):c.4593-14A>C
|
|
|
NM_001271.4(CHD2):c.4593-14A>G
|
|
|
NM_001271.4(CHD2):c.4593-3del
|
rs1270315601
|
|
NM_001271.4(CHD2):c.4593-4T>G
|
rs2141885411
|
|
NM_001271.4(CHD2):c.4598T>G (p.Leu1533Arg)
|
rs2054404153
|
|
NM_001271.4(CHD2):c.45A>G (p.Leu15=)
|
rs1009840698
|
|
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
|
|
|
NM_001271.4(CHD2):c.4612T>G (p.Ser1538Ala)
|
rs2141885429
|
|
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe)
|
rs1596456893
|
|
NM_001271.4(CHD2):c.4622C>G (p.Thr1541Arg)
|
rs2141885433
|
|
NM_001271.4(CHD2):c.4622C>T (p.Thr1541Ile)
|
rs2141885433
|
|
NM_001271.4(CHD2):c.4626A>G (p.Glu1542=)
|
rs2054404334
|
|
NM_001271.4(CHD2):c.462A>G (p.Glu154=)
|
|
|
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter)
|
rs1064796449
|
|
NM_001271.4(CHD2):c.463C>A (p.Pro155Thr)
|
|
|
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg)
|
rs1428758251
|
|
NM_001271.4(CHD2):c.4653A>G (p.Leu1551=)
|
|
|
NM_001271.4(CHD2):c.4663G>A (p.Ala1555Thr)
|
rs2054404552
|
|
NM_001271.4(CHD2):c.4666C>T (p.His1556Tyr)
|
|
|
NM_001271.4(CHD2):c.4667A>G (p.His1556Arg)
|
|
|
NM_001271.4(CHD2):c.4672_4676del (p.Lys1558fs)
|
|
|
NM_001271.4(CHD2):c.4675A>C (p.Arg1559=)
|
rs2141885460
|
|
NM_001271.4(CHD2):c.4692+20del
|
|
|
NM_001271.4(CHD2):c.4693-19G>C
|
|
|
NM_001271.4(CHD2):c.4716G>T (p.Val1572=)
|
rs2141888143
|
|
NM_001271.4(CHD2):c.4719T>G (p.Thr1573=)
|
rs2054436203
|
|
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu)
|
rs56227200
|
|
NM_001271.4(CHD2):c.4724G>T (p.Gly1575Val)
|
|
|
NM_001271.4(CHD2):c.4724dup (p.Gly1575_Lys1576insTer)
|
|
|
NM_001271.4(CHD2):c.4727A>G (p.Lys1576Arg)
|
rs2141888165
|
|
NM_001271.4(CHD2):c.4728G>A (p.Lys1576=)
|
|
|
NM_001271.4(CHD2):c.4745A>G (p.Glu1582Gly)
|
|
|
NM_001271.4(CHD2):c.4746G>C (p.Glu1582Asp)
|
rs2141888193
|
|
NM_001271.4(CHD2):c.4748C>T (p.Ala1583Val)
|
|
|
NM_001271.4(CHD2):c.4749C>T (p.Ala1583=)
|
rs1183396141
|
|
NM_001271.4(CHD2):c.4758C>T (p.Ser1586=)
|
|
|
NM_001271.4(CHD2):c.4761_4782del (p.Arg1588fs)
|
|
|
NM_001271.4(CHD2):c.4763G>A (p.Arg1588Gln)
|
|
|
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs)
|
rs1555445685
|
|
NM_001271.4(CHD2):c.477A>G (p.Glu159=)
|
rs2141773476
|
|
NM_001271.4(CHD2):c.4784C>T (p.Ser1595Phe)
|
|
|
NM_001271.4(CHD2):c.4787A>G (p.His1596Arg)
|
|
|
NM_001271.4(CHD2):c.4789A>G (p.Thr1597Ala)
|
rs1596458216
|
|
NM_001271.4(CHD2):c.4793C>A (p.Ser1598Ter)
|
|
|
NM_001271.4(CHD2):c.4797C>T (p.His1599=)
|
rs1596458228
|
|
NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser)
|
|
|
NM_001271.4(CHD2):c.479A>G (p.Gln160Arg)
|
|
|
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys)
|
rs1555438837
|
|
NM_001271.4(CHD2):c.4822T>C (p.Leu1608=)
|
rs201452886
|
|
NM_001271.4(CHD2):c.4840C>A (p.Pro1614Thr)
|
|
|
NM_001271.4(CHD2):c.4842A>G (p.Pro1614=)
|
|
|
NM_001271.4(CHD2):c.4845G>A (p.Gln1615=)
|
rs1427359303
|
|
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His)
|
rs1427359303
|
|
NM_001271.4(CHD2):c.4857C>A (p.His1619Gln)
|
|
|
NM_001271.4(CHD2):c.4859C>G (p.Pro1620Arg)
|
|
|
NM_001271.4(CHD2):c.4866T>C (p.Asp1622=)
|
rs2141888326
|
|
NM_001271.4(CHD2):c.486A>G (p.Gln162=)
|
|
|
NM_001271.4(CHD2):c.4873A>G (p.Asn1625Asp)
|
|
|
NM_001271.4(CHD2):c.4876C>T (p.His1626Tyr)
|
|
|
NM_001271.4(CHD2):c.488G>A (p.Gly163Asp)
|
|
|
NM_001271.4(CHD2):c.4890A>G (p.Arg1630=)
|
rs1596458291
|
|
NM_001271.4(CHD2):c.4897del (p.Ser1633fs)
|
rs2054438416
|
|
NM_001271.4(CHD2):c.4898G>A (p.Ser1633Asn)
|
rs2054438446
|
|
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr)
|
rs1555445701
|
|
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr)
|
rs761860129
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
NM_001271.4(CHD2):c.4905A>G (p.Ala1635=)
|
rs2054438546
|
|
NM_001271.4(CHD2):c.4906+16dup
|
|
|
NM_001271.4(CHD2):c.4906+19T>C
|
|
|
NM_001271.4(CHD2):c.4906+1G>T
|
rs2141888378
|
|
NM_001271.4(CHD2):c.4906+7C>T
|
|
|
NM_001271.4(CHD2):c.4907-12_4907-9del
|
rs764356498
|
|
NM_001271.4(CHD2):c.4907-13T>A
|
|
|
NM_001271.4(CHD2):c.4907-13dup
|
rs1343290835
|
|
NM_001271.4(CHD2):c.4907-16C>G
|
|
|
NM_001271.4(CHD2):c.4907-7C>T
|
|
|
NM_001271.4(CHD2):c.4907A>G (p.Asp1636Gly)
|
|
|
NM_001271.4(CHD2):c.4909C>G (p.Arg1637Gly)
|
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
NM_001271.4(CHD2):c.4915dup (p.Asp1639fs)
|
|
|
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu)
|
rs575697793
|
|
NM_001271.4(CHD2):c.4917C>G (p.Asp1639Glu)
|
|
|
NM_001271.4(CHD2):c.491C>G (p.Thr164Ser)
|
|
|
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter)
|
rs864309548
|
|
NM_001271.4(CHD2):c.4926G>A (p.Arg1642=)
|
rs2141895125
|
|
NM_001271.4(CHD2):c.4932A>T (p.Arg1644Ser)
|
rs1567166830
|
|
NM_001271.4(CHD2):c.4934A>G (p.Lys1645Arg)
|
rs751850387
|
|
NM_001271.4(CHD2):c.4938C>T (p.Phe1646=)
|
|
|
NM_001271.4(CHD2):c.4940A>G (p.Asn1647Ser)
|
|
|
NM_001271.4(CHD2):c.4944TGG[2] (p.Gly1651del)
|
rs988975454
|
|
NM_001271.4(CHD2):c.4945G>A (p.Gly1649Ser)
|
rs781717447
|
|
NM_001271.4(CHD2):c.4949dup (p.Gly1651fs)
|
rs2054514265
|
|
NM_001271.4(CHD2):c.4955A>G (p.Asn1652Ser)
|
|
|
NM_001271.4(CHD2):c.4956C>G (p.Asn1652Lys)
|
rs200979907
|
|
NM_001271.4(CHD2):c.4958A>G (p.Asn1653Ser)
|
rs2054514401
|
|
NM_001271.4(CHD2):c.4960A>T (p.Asn1654Tyr)
|
rs1437890850
|
|
NM_001271.4(CHD2):c.4966C>T (p.Pro1656Ser)
|
|
|
NM_001271.4(CHD2):c.4968A>T (p.Pro1656=)
|
|
|
NM_001271.4(CHD2):c.4968dup (p.Trp1657fs)
|
rs2054514589
|
|
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter)
|
rs398122998
|
|
NM_001271.4(CHD2):c.4973G>A (p.Gly1658Glu)
|
|
|
NM_001271.4(CHD2):c.4987C>T (p.His1663Tyr)
|
rs746965265
|
|
NM_001271.4(CHD2):c.4987dup (p.His1663fs)
|
|
|
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr)
|
rs142534503
|
|
NM_001271.4(CHD2):c.5004C>T (p.His1668=)
|
rs770874614
|
|
NM_001271.4(CHD2):c.5010C>T (p.Tyr1670=)
|
rs369883738
|
|
NM_001271.4(CHD2):c.5016C>T (p.Asp1672=)
|
|
|
NM_001271.4(CHD2):c.5017C>A (p.His1673Asn)
|
rs190569275
|
|
NM_001271.4(CHD2):c.5025T>C (p.Tyr1675=)
|
|
|
NM_001271.4(CHD2):c.5026G>A (p.Gly1676Arg)
|
rs2141895266
|
|
NM_001271.4(CHD2):c.5029dup (p.Asp1677fs)
|
|
|
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)
|
rs797044912
|
|
NM_001271.4(CHD2):c.503G>C (p.Ser168Thr)
|
|
|
NM_001271.4(CHD2):c.5041_5042del (p.Met1681fs)
|
rs2141895289
|
|
NM_001271.4(CHD2):c.5041_5042dup (p.Met1681fs)
|
|
|
NM_001271.4(CHD2):c.5048C>T (p.Ala1683Val)
|
|
|
NM_001271.4(CHD2):c.5050C>G (p.His1684Asp)
|
|
|
NM_001271.4(CHD2):c.5051A>C (p.His1684Pro)
|
rs770784804
|
|
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg)
|
rs770784804
|
|
NM_001271.4(CHD2):c.5053C>T (p.Arg1685Cys)
|
|
|
NM_001271.4(CHD2):c.5057C>G (p.Ser1686Cys)
|
|
|
NM_001271.4(CHD2):c.5058C>G (p.Ser1686=)
|
|
|
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn)
|
rs1555446342
|
|
NM_001271.4(CHD2):c.5066A>G (p.Tyr1689Cys)
|
rs773408940
|
|
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter)
|
rs761127171
|
|
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser)
|
rs754463281
|
|
NM_001271.4(CHD2):c.5072C>T (p.Pro1691Leu)
|
rs1227123179
|
|
NM_001271.4(CHD2):c.5075ACA[1] (p.Asn1693del)
|
rs762235508
|
|
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser)
|
rs764702103
|
|
NM_001271.4(CHD2):c.5100T>G (p.Tyr1700Ter)
|
rs751251777
|
|
NM_001271.4(CHD2):c.5103C>T (p.Asp1701=)
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|
|
NM_001271.4(CHD2):c.5104C>G (p.Gln1702Glu)
|
rs1478847821
|
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NM_001271.4(CHD2):c.5109C>T (p.Tyr1703=)
|
rs2141895374
|
|
NM_001271.4(CHD2):c.5110A>T (p.Ser1704Cys)
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|
|
NM_001271.4(CHD2):c.5111G>A (p.Ser1704Asn)
|
rs2054516537
|
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NM_001271.4(CHD2):c.5126A>T (p.His1709Leu)
|
rs1172858416
|
|
NM_001271.4(CHD2):c.5135A>T (p.His1712Leu)
|
|
|
NM_001271.4(CHD2):c.5136C>T (p.His1712=)
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NM_001271.4(CHD2):c.5136_5137del (p.His1712fs)
|
rs2054516766
|
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NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp)
|
rs1555446358
|
|
NM_001271.4(CHD2):c.5148T>G (p.Tyr1716Ter)
|
rs773497328
|
|
NM_001271.4(CHD2):c.5153+13C>T
|
rs2141895433
|
|
NM_001271.4(CHD2):c.5153+15G>A
|
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NM_001271.4(CHD2):c.5153+1G>T
|
rs761115271
|
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NM_001271.4(CHD2):c.5153+20A>G
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NM_001271.4(CHD2):c.5153+8A>G
|
rs1032969529
|
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NM_001271.4(CHD2):c.5154-12T>C
|
rs2141761261
|
|
NM_001271.4(CHD2):c.5154-9_5154-8del
|
|
|
NM_001271.4(CHD2):c.5154G>A (p.Arg1718=)
|
rs768370702
|
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NM_001271.4(CHD2):c.5163T>C (p.His1721=)
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|
|
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln)
|
rs1240488615
|
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NM_001271.4(CHD2):c.5185G>A (p.Asp1729Asn)
|
|
|
NM_001271.4(CHD2):c.5192T>G (p.Phe1731Cys)
|
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|
NM_001271.4(CHD2):c.5199T>G (p.Pro1733=)
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|
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)
|
rs1009699195
|
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NM_001271.4(CHD2):c.5202A>G (p.Gln1734=)
|
|
|
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter)
|
rs1596463906
|
|
NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln)
|
rs1230076038
|
|
NM_001271.4(CHD2):c.522A>G (p.Lys174=)
|
rs573405690
|
|
NM_001271.4(CHD2):c.522A>T (p.Lys174Asn)
|
rs573405690
|
|
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer)
|
rs748694853
|
|
NM_001271.4(CHD2):c.5233T>C (p.Ser1745Pro)
|
|
|
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs)
|
rs2054569319
|
|
NM_001271.4(CHD2):c.5240A>C (p.His1747Pro)
|
|
|
NM_001271.4(CHD2):c.5241C>G (p.His1747Gln)
|
|
|
NM_001271.4(CHD2):c.5243G>A (p.Arg1748His)
|
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|
NM_001271.4(CHD2):c.5245C>A (p.Pro1749Thr)
|
|
|
NM_001271.4(CHD2):c.5248G>A (p.Ala1750Thr)
|
rs753595749
|
|
NM_001271.4(CHD2):c.5249C>T (p.Ala1750Val)
|
|
|
NM_001271.4(CHD2):c.5251A>G (p.Met1751Val)
|
|
|
NM_001271.4(CHD2):c.5260C>T (p.His1754Tyr)
|
rs1162600592
|
|
NM_001271.4(CHD2):c.5274C>T (p.Pro1758=)
|
|
|
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly)
|
rs1596463935
|
|
NM_001271.4(CHD2):c.5288G>A (p.Arg1763His)
|
|
|
NM_001271.4(CHD2):c.5288G>T (p.Arg1763Leu)
|
|
|
NM_001271.4(CHD2):c.5291C>T (p.Ser1764Phe)
|
|
|
NM_001271.4(CHD2):c.5294del (p.Phe1765fs)
|
|
|
NM_001271.4(CHD2):c.5297A>G (p.His1766Arg)
|
|
|
NM_001271.4(CHD2):c.5304T>A (p.Asp1768Glu)
|
rs1006801815
|
|
NM_001271.4(CHD2):c.5306A>T (p.Lys1769Ile)
|
|
|
NM_001271.4(CHD2):c.5324A>C (p.Gln1775Pro)
|
|
|
NM_001271.4(CHD2):c.5325G>T (p.Gln1775His)
|
|
|
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala)
|
rs371006816
|
|
NM_001271.4(CHD2):c.5329C>G (p.Leu1777Val)
|
|
|
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly)
|
rs1596390679
|
|
NM_001271.4(CHD2):c.5332C>T (p.Pro1778Ser)
|
|
|
NM_001271.4(CHD2):c.5333C>G (p.Pro1778Arg)
|
|
|
NM_001271.4(CHD2):c.5335C>T (p.Pro1779Ser)
|
rs374271060
|
|
NM_001271.4(CHD2):c.5343C>T (p.His1781=)
|
rs190327730
|
|
NM_001271.4(CHD2):c.5344C>T (p.Pro1782Ser)
|
|
|
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu)
|
rs1265214152
|
|
NM_001271.4(CHD2):c.5357A>T (p.Asp1786Val)
|
rs2054570777
|
|
NM_001271.4(CHD2):c.5359C>A (p.Pro1787Thr)
|
|
|
NM_001271.4(CHD2):c.5366C>T (p.Ser1789Leu)
|
rs2054570944
|
|
NM_001271.4(CHD2):c.5384CTC[1] (p.Pro1796del)
|
rs757944116
|
|
NM_001271.4(CHD2):c.5399A>G (p.Lys1800Arg)
|
rs2054571292
|
|
NM_001271.4(CHD2):c.5406C>T (p.Pro1802=)
|
rs1567168673
|
|
NM_001271.4(CHD2):c.5413C>T (p.His1805Tyr)
|
rs2141761768
|
|
NM_001271.4(CHD2):c.5416A>T (p.Arg1806Trp)
|
rs12906163
|
|
NM_001271.4(CHD2):c.5441A>G (p.Glu1814Gly)
|
|
|
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
|
|
|
NM_001271.4(CHD2):c.5443_5447del (p.Gln1815fs)
|
|
|
NM_001271.4(CHD2):c.5444A>G (p.Gln1815Arg)
|
rs770556699
|
|
NM_001271.4(CHD2):c.5454C>T (p.Asn1818=)
|
|
|
NM_001271.4(CHD2):c.5456C>G (p.Pro1819Arg)
|
|
|
NM_001271.4(CHD2):c.5471A>G (p.Asn1824Ser)
|
|
|
NM_001271.4(CHD2):c.5476C>A (p.Arg1826=)
|
rs759398974
|
|
NM_001271.4(CHD2):c.5476C>G (p.Arg1826Gly)
|
|
|
NM_001271.4(CHD2):c.551+17A>C
|
|
|
NM_001271.4(CHD2):c.551+3G>A
|
rs2141773591
|
|
NM_001271.4(CHD2):c.551+8G>A
|
|
|
NM_001271.4(CHD2):c.552-10C>G
|
|
|
NM_001271.4(CHD2):c.552-5T>C
|
rs2141778314
|
|
NM_001271.4(CHD2):c.552-9T>C
|
|
|
NM_001271.4(CHD2):c.555A>G (p.Thr185=)
|
|
|
NM_001271.4(CHD2):c.558G>A (p.Val186=)
|
rs766588440
|
|
NM_001271.4(CHD2):c.57A>G (p.Ala19=)
|
rs1412598141
|
|
NM_001271.4(CHD2):c.588G>A (p.Lys196=)
|
|
|
NM_001271.4(CHD2):c.593A>G (p.Gln198Arg)
|
rs927044414
|
|
NM_001271.4(CHD2):c.595C>A (p.Arg199Ser)
|
rs764705223
|
|
NM_001271.4(CHD2):c.596G>C (p.Arg199Pro)
|
rs367550855
|
|
NM_001271.4(CHD2):c.59C>G (p.Ser20Trp)
|
rs1057524801
|
|
NM_001271.4(CHD2):c.59C>T (p.Ser20Leu)
|
rs1057524801
|
|
NM_001271.4(CHD2):c.607A>G (p.Lys203Glu)
|
rs2141778395
|
|
NM_001271.4(CHD2):c.608A>T (p.Lys203Ile)
|
|
|
NM_001271.4(CHD2):c.615A>G (p.Gln205=)
|
|
|
NM_001271.4(CHD2):c.616G>C (p.Asp206His)
|
rs2141778412
|
|
NM_001271.4(CHD2):c.617A>G (p.Asp206Gly)
|
rs2141778416
|
|
NM_001271.4(CHD2):c.617del (p.Asp206fs)
|
|
|
NM_001271.4(CHD2):c.62+18_62+21del
|
|
|
NM_001271.4(CHD2):c.62+19C>T
|
|
|
NM_001271.4(CHD2):c.62+22_62+25del
|
|
|
NM_001271.4(CHD2):c.62+3A>G
|
|
|
NM_001271.4(CHD2):c.624T>G (p.Ser208=)
|
|
|
NM_001271.4(CHD2):c.63-17C>G
|
|
|
NM_001271.4(CHD2):c.63-19C>G
|
|
|
NM_001271.4(CHD2):c.63-22TC[5]
|
rs749583665
|
|
NM_001271.4(CHD2):c.63-5A>G
|
|
|
NM_001271.4(CHD2):c.631G>A (p.Asp211Asn)
|
|
|
NM_001271.4(CHD2):c.635A>G (p.Asp212Gly)
|
|
|
NM_001271.4(CHD2):c.642T>C (p.Asp214=)
|
rs2053325593
|
|
NM_001271.4(CHD2):c.645C>G (p.Asp215Glu)
|
|
|
NM_001271.4(CHD2):c.648A>G (p.Glu216=)
|
|
|
NM_001271.4(CHD2):c.654dup (p.Lys219fs)
|
rs2141778479
|
|
NM_001271.4(CHD2):c.669T>G (p.Arg223=)
|
|
|
NM_001271.4(CHD2):c.66C>T (p.His22=)
|
rs2141745833
|
|
NM_001271.4(CHD2):c.670C>T (p.Arg224Ter)
|
rs2053326002
|
|
NM_001271.4(CHD2):c.678G>A (p.Ala226=)
|
|
|
NM_001271.4(CHD2):c.678G>T (p.Ala226=)
|
|
|
NM_001271.4(CHD2):c.682A>G (p.Lys228Glu)
|
|
|
NM_001271.4(CHD2):c.688G>A (p.Val230Ile)
|
rs762370978
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
NM_001271.4(CHD2):c.692+16G>A
|
rs2141778590
|
|
NM_001271.4(CHD2):c.692+1G>C
|
rs1555439036
|
|
NM_001271.4(CHD2):c.692+20T>G
|
|
|
NM_001271.4(CHD2):c.692+5G>A
|
|
|
NM_001271.4(CHD2):c.692+8G>A
|
|
|
NM_001271.4(CHD2):c.692G>A (p.Ser231Asn)
|
rs1262732938
|
|
NM_001271.4(CHD2):c.693-10C>T
|
rs374771910
|
|
NM_001271.4(CHD2):c.693-2A>G
|
rs886039708
|
|
NM_001271.4(CHD2):c.693-3C>A
|
rs2141785016
|
|
NM_001271.4(CHD2):c.696C>A (p.Tyr232Ter)
|
|
|
NM_001271.4(CHD2):c.698A>G (p.Lys233Arg)
|
|
|
NM_001271.4(CHD2):c.708T>C (p.Asp236=)
|
|
|
NM_001271.4(CHD2):c.709_713dup (p.Phe238fs)
|
|
|
NM_001271.4(CHD2):c.720T>A (p.Thr240=)
|
rs762283261
|
|
NM_001271.4(CHD2):c.720T>C (p.Thr240=)
|
rs762283261
|
|
NM_001271.4(CHD2):c.721G>C (p.Asp241His)
|
rs2141785066
|
|
NM_001271.4(CHD2):c.733C>A (p.Leu245Ile)
|
|
|
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter)
|
rs1567135138
|
|
NM_001271.4(CHD2):c.747_748del (p.Gly250fs)
|
rs2053387971
|
|
NM_001271.4(CHD2):c.757G>A (p.Val253Ile)
|
rs2053388088
|
|
NM_001271.4(CHD2):c.761A>T (p.Asp254Val)
|
|
|
NM_001271.4(CHD2):c.777T>C (p.Asn259=)
|
|
|
NM_001271.4(CHD2):c.787A>G (p.Ile263Val)
|
|
|
NM_001271.4(CHD2):c.806C>G (p.Ser269Ter)
|
rs2141785162
|
|
NM_001271.4(CHD2):c.810A>C (p.Arg270Ser)
|
rs2053388439
|
|
NM_001271.4(CHD2):c.813G>A (p.Leu271=)
|
rs907174346
|
|
NM_001271.4(CHD2):c.81A>C (p.Glu27Asp)
|
rs2053017198
|
|
NM_001271.4(CHD2):c.826+14G>C
|
|
|
NM_001271.4(CHD2):c.827-10C>G
|
rs2141787300
|
|
NM_001271.4(CHD2):c.827-15T>G
|
|
|
NM_001271.4(CHD2):c.846T>C (p.Thr282=)
|
|
|
NM_001271.4(CHD2):c.846T>G (p.Thr282=)
|
rs763813072
|
|
NM_001271.4(CHD2):c.847G>C (p.Val283Leu)
|
|
|
NM_001271.4(CHD2):c.847del (p.Val283fs)
|
|
|
NM_001271.4(CHD2):c.849A>T (p.Val283=)
|
|
|
NM_001271.4(CHD2):c.855G>C (p.Ala285=)
|
rs138796857
|
|
NM_001271.4(CHD2):c.856A>G (p.Ile286Val)
|
rs1457822140
|
|
NM_001271.4(CHD2):c.867T>G (p.Asn289Lys)
|
|
|
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn)
|
rs1555439526
|
|
NM_001271.4(CHD2):c.879_883del (p.Ser293fs)
|
rs1060503517
|
|
NM_001271.4(CHD2):c.880G>A (p.Gly294Ser)
|
|
|
NM_001271.4(CHD2):c.887T>A (p.Phe296Tyr)
|
rs2141787468
|
|
NM_001271.4(CHD2):c.88G>A (p.Gly30Ser)
|
|
|
NM_001271.4(CHD2):c.892A>G (p.Thr298Ala)
|
|
|
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser)
|
rs200687736
|
|
NM_001271.4(CHD2):c.930G>A (p.Lys310=)
|
rs1318106648
|
|
NM_001271.4(CHD2):c.938_948del (p.Gly313fs)
|
rs2141787520
|
|
NM_001271.4(CHD2):c.942G>T (p.Trp314Cys)
|
|
|
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro)
|
rs138279266
|
|
NM_001271.4(CHD2):c.948C>T (p.Tyr316=)
|
|
|
NM_001271.4(CHD2):c.951C>T (p.Ile317=)
|
|
|
NM_001271.4(CHD2):c.975del (p.Glu325fs)
|
rs2141787589
|
|
NM_001271.4(CHD2):c.978C>G (p.Ser326=)
|
rs2141787594
|
|
NM_001271.4(CHD2):c.981A>G (p.Leu327=)
|
|
|
NM_001271.4(CHD2):c.998A>T (p.Lys333Met)
|
|
|
NM_001271.4(CHD2):c.99A>G (p.Ser33=)
|
|
|