ClinVar Miner

List of variants in gene CHD2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 643
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.5153+173G>C rs964034 0.81085
NM_001271.4(CHD2):c.2049A>G (p.Glu683=) rs4777755 0.77324
NM_001271.4(CHD2):c.1810-304A>G rs7180285 0.76533
NM_001271.4(CHD2):c.4008+149C>G rs7173849 0.76216
NM_001271.4(CHD2):c.4592+103C>T rs12900461 0.76170
NM_001271.4(CHD2):c.4414-45C>T rs12915582 0.75991
NM_001271.4(CHD2):c.4278+284G>T rs2033847 0.75971
NM_001271.4(CHD2):c.2727+38T>G rs11074122 0.75511
NM_001271.4(CHD2):c.2718A>G (p.Gln906=) rs11074121 0.75493
NM_001271.4(CHD2):c.1719+71C>T rs1371390 0.73196
NM_001271.4(CHD2):c.3237+113G>A rs2272458 0.68375
NM_001271.4(CHD2):c.4008+228T>C rs7179483 0.68130
NM_001271.4(CHD2):c.3238-255T>C rs11639256 0.67590
NM_001271.4(CHD2):c.2728-53G>A rs2272461 0.62681
NM_001271.4(CHD2):c.4279-272T>C rs8042437 0.61804
NM_001271.4(CHD2):c.1153+109G>C rs1320819 0.45835
NM_001271.4(CHD2):c.552-152G>A rs3743469 0.44483
NM_001271.4(CHD2):c.3455+186A>G rs3826035 0.41113
NM_001271.4(CHD2):c.63-160C>T rs3826036 0.41027
NM_001271.4(CHD2):c.5154-76G>A rs28558199 0.37557
NM_001271.4(CHD2):c.5154-213_5154-210dup rs34136300 0.37333
NM_001271.4(CHD2):c.4137+183A>G rs6497013 0.35834
NM_001271.4(CHD2):c.4137+86G>A rs12591124 0.35462
NM_001271.4(CHD2):c.3414-254C>T rs3736619 0.33943
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.3596-98T>C rs11630582 0.22343
NM_001271.4(CHD2):c.3237+64A>T rs2272459 0.22173
NM_001271.4(CHD2):c.3237+258G>C rs11631553 0.21981
NM_001271.4(CHD2):c.4009-211A>T rs4778065 0.21933
NM_001271.4(CHD2):c.3237+285C>T rs12592212 0.19267
NM_001271.4(CHD2):c.4692+43A>G rs2119010 0.18154
NM_001271.4(CHD2):c.826+271C>G rs12904680 0.17524
NM_001271.4(CHD2):c.2189+251G>T rs11632522 0.17435
NM_001271.4(CHD2):c.1719+235G>A rs35596808 0.17356
NM_001271.4(CHD2):c.5154-74C>T rs12905033 0.17307
NM_001271.4(CHD2):c.5154-75C>T rs12905032 0.17303
NM_001271.4(CHD2):c.443+261C>T rs12915072 0.16704
NM_001271.4(CHD2):c.1377+301C>T rs35327372 0.14510
NM_001271.4(CHD2):c.2353-56G>A rs62023144 0.13178
NM_001271.4(CHD2):c.1052+323A>G rs12915024 0.12410
NM_001271.4(CHD2):c.4693-178C>T rs62023154 0.11594
NM_001271.4(CHD2):c.382-304T>C rs80102684 0.08083
NM_001271.4(CHD2):c.2876+246T>C rs17610312 0.07810
NM_001271.4(CHD2):c.5154-250G>A rs57742857 0.07394
NM_001271.4(CHD2):c.551+152A>G rs2272463 0.07378
NM_001271.4(CHD2):c.294+112T>A rs73456430 0.06517
NM_001271.4(CHD2):c.551+181G>A rs35710180 0.05145
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=) rs34315566 0.04350
NM_001271.4(CHD2):c.444-285G>A rs78177980 0.04311
NM_001271.4(CHD2):c.4907-269A>G rs55675444 0.02925
NM_001271.4(CHD2):c.4414-26G>A rs72647789 0.02490
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala) rs56227200 0.02390
NM_001271.4(CHD2):c.1720-70A>G rs74568945 0.02364
NM_001271.4(CHD2):c.2190-91A>G rs79183083 0.02364
NM_001271.4(CHD2):c.4413+38C>T rs76579099 0.02077
NM_001271.4(CHD2):c.5153+124C>G rs72647790 0.02071
NM_001271.4(CHD2):c.3596-20G>A rs78359469 0.02014
NM_001271.4(CHD2):c.2876+39T>C rs74029211 0.01962
NM_001271.4(CHD2):c.295-154A>T rs78223026 0.01954
NM_001271.4(CHD2):c.692+228A>T rs77614896 0.01696
NM_001271.4(CHD2):c.827-146G>C rs79123820 0.01695
NM_001271.4(CHD2):c.4008+210C>G rs149459529 0.01679
NM_001271.4(CHD2):c.4413+15C>T rs74029217 0.01677
NM_001271.4(CHD2):c.4692+199T>A rs78192422 0.01630
NM_001271.4(CHD2):c.4414-97del rs201797039 0.01595
NM_001271.4(CHD2):c.4279-121T>A rs111775030 0.01558
NM_001271.4(CHD2):c.4279-122_4279-121insC rs149995378 0.01556
NM_001271.4(CHD2):c.692+161G>A rs145374222 0.01516
NM_001271.4(CHD2):c.443+217G>A rs116688898 0.01389
NM_001271.4(CHD2):c.3413+43G>A rs78191674 0.01378
NM_001271.4(CHD2):c.4593-204C>G rs62023153 0.01338
NM_001271.4(CHD2):c.3413+16G>A rs114892796 0.01273
NM_001271.4(CHD2):c.5153+152A>T rs138642347 0.01258
NM_001271.4(CHD2):c.*73G>A rs4778070 0.01256
NM_001271.4(CHD2):c.4138-159G>A rs8040470 0.01147
NM_001271.4(CHD2):c.1810-158A>G rs62023126 0.01139
NM_001271.4(CHD2):c.2190-197T>A rs62023143 0.01133
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr) rs61756301 0.01123
NM_001271.4(CHD2):c.4593-258G>C rs143092287 0.01050
NM_001271.4(CHD2):c.693-125G>T rs138733313 0.01048
NM_001271.4(CHD2):c.1378-96T>G rs80212944 0.00902
NM_001271.4(CHD2):c.4692+251C>A rs7172849 0.00894
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.4278+52A>G rs2272455 0.00794
NM_001271.4(CHD2):c.4278+27A>G rs2272456 0.00792
NM_001271.4(CHD2):c.693-20C>T rs141271290 0.00778
NM_001271.4(CHD2):c.4137+37A>G rs147884853 0.00757
NM_001271.4(CHD2):c.2727+46del rs57901158 0.00745
NM_001271.4(CHD2):c.1053-300C>T rs141921472 0.00721
NM_001271.4(CHD2):c.2001-164T>A rs76698607 0.00710
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014 0.00698
NM_001271.4(CHD2):c.382-179T>C rs145139295 0.00694
NM_001271.4(CHD2):c.4593-34A>G rs117430127 0.00656
NM_001271.4(CHD2):c.63-214T>C rs77734149 0.00580
NM_001271.4(CHD2):c.1154-103G>C rs60654366 0.00564
NM_001271.4(CHD2):c.4593-214C>T rs114043537 0.00560
NM_001271.4(CHD2):c.4693-248A>G rs16947333 0.00544
NM_001271.4(CHD2):c.2000+139G>A rs60312088 0.00488
NM_001271.4(CHD2):c.1810-224G>A rs58546115 0.00484
NM_001271.4(CHD2):c.4137+250T>C rs145315742 0.00453
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001271.4(CHD2):c.2728-55T>C rs74029210 0.00351
NM_001271.4(CHD2):c.4008+248G>A rs188266470 0.00344
NM_001271.4(CHD2):c.2578-279A>G rs55687170 0.00342
NM_001271.4(CHD2):c.4279-102A>T rs74029216 0.00336
NM_001271.4(CHD2):c.4693-130G>C rs115581167 0.00327
NM_001271.4(CHD2):c.4138-6T>C rs182330071 0.00325
NM_001271.4(CHD2):c.5153+70T>C rs185298961 0.00290
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.3413+114A>C rs376527352 0.00256
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_001271.4(CHD2):c.551+80G>A rs114302923 0.00242
NM_001271.4(CHD2):c.551+121T>C rs143500030 0.00241
NM_001271.4(CHD2):c.2000+24A>G rs72647788 0.00215
NM_001271.4(CHD2):c.62+40T>G rs199687440 0.00175
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.3413+42C>T rs369778948 0.00171
NM_001271.4(CHD2):c.2000+28G>A rs368748523 0.00154
NM_001271.4(CHD2):c.2353-10A>G rs190159225 0.00150
NM_001271.4(CHD2):c.1053-46C>T rs199775454 0.00140
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.4137+46A>G rs202162779 0.00081
NM_001271.4(CHD2):c.552-24C>T rs143657198 0.00078
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554 0.00078
NM_001271.4(CHD2):c.2001-30C>T rs372314690 0.00060
NM_001271.4(CHD2):c.3886-24G>A rs186916339 0.00054
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=) rs144292068 0.00047
NM_001271.4(CHD2):c.5153+108C>G rs3743468 0.00044
NM_001271.4(CHD2):c.1810-3T>C rs189339982 0.00041
NM_001271.4(CHD2):c.-72+12A>G rs545891757 0.00040
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.295-22G>A rs147887115 0.00037
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.4413+40C>T rs185121932 0.00024
NM_001271.4(CHD2):c.4907-46T>A rs199798935 0.00024
NM_001271.4(CHD2):c.2505+26G>T rs574954863 0.00023
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr) rs147466101 0.00023
NM_001271.4(CHD2):c.3413+47T>C rs374791208 0.00021
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met) rs770993927 0.00021
NM_001271.4(CHD2):c.5153+24C>T rs370525738 0.00021
NM_001271.4(CHD2):c.2352+37C>T rs181198036 0.00020
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001271.4(CHD2):c.2190-43G>T rs189630679 0.00018
NM_001271.4(CHD2):c.2728-16G>A rs111544874 0.00018
NM_001271.4(CHD2):c.3595+51G>A rs566526993 0.00017
NM_001271.4(CHD2):c.4009-4C>T rs376566234 0.00017
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001271.4(CHD2):c.551+5A>C rs376498798 0.00016
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.1377+42T>C rs186286624 0.00011
NM_001271.4(CHD2):c.295-30A>G rs564059121 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.3456-31C>T rs750657437 0.00010
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.2727+44C>G rs1212722322 0.00009
NM_001271.4(CHD2):c.2727+46A>G rs1275114588 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.753A>G (p.Glu251=) rs368486032 0.00009
NM_001271.4(CHD2):c.1038C>T (p.Asp346=) rs148706063 0.00008
NM_001271.4(CHD2):c.2506-11T>G rs376323635 0.00007
NM_001271.4(CHD2):c.2703G>A (p.Ala901=) rs776453723 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.5063G>A (p.Ser1688Asn) rs761991634 0.00007
NM_001271.4(CHD2):c.5064C>T (p.Ser1688=) rs767804369 0.00007
NM_001271.4(CHD2):c.1233C>T (p.Pro411=) rs202188833 0.00006
NM_001271.4(CHD2):c.153C>T (p.Ser51=) rs201752698 0.00006
NM_001271.4(CHD2):c.261C>G (p.Ala87=) rs367968143 0.00006
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320 0.00006
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076 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.1049A>T (p.Gln350Leu) rs200120256 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.1359C>T (p.Ile453=) rs777978644 0.00004
NM_001271.4(CHD2):c.2601A>G (p.Thr867=) rs145367388 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.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.1680C>T (p.Asn560=) rs368985360 0.00003
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217 0.00003
NM_001271.4(CHD2):c.1938G>A (p.Gly646=) rs985145180 0.00003
NM_001271.4(CHD2):c.2850C>A (p.Ile950=) rs780916645 0.00003
NM_001271.4(CHD2):c.3279G>A (p.Arg1093=) rs774908145 0.00003
NM_001271.4(CHD2):c.3734+7A>G rs565514035 0.00003
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647 0.00003
NM_001271.4(CHD2):c.585G>A (p.Pro195=) rs371325259 0.00003
NM_001271.4(CHD2):c.1052+91G>A rs542247684 0.00002
NM_001271.4(CHD2):c.1170A>G (p.Lys390=) rs1342167975 0.00002
NM_001271.4(CHD2):c.1242A>G (p.Leu414=) rs749255095 0.00002
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser) rs373555806 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.2728-44G>A rs758994311 0.00002
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro) rs751507887 0.00002
NM_001271.4(CHD2):c.4693-19G>A rs764154165 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.5128C>T (p.Arg1710Trp) rs1000152328 0.00002
NM_001271.4(CHD2):c.5154-13A>G rs747116554 0.00002
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727 0.00002
NM_001271.4(CHD2):c.5341C>G (p.His1781Asp) rs771637309 0.00002
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153 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.1154-6G>A rs1275001828 0.00001
NM_001271.4(CHD2):c.1248A>G (p.Lys416=) rs1034535662 0.00001
NM_001271.4(CHD2):c.1317T>C (p.Asn439=) rs753188917 0.00001
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001271.4(CHD2):c.1582C>G (p.His528Asp) rs776364124 0.00001
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518 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.185G>A (p.Ser62Asn) rs886041165 0.00001
NM_001271.4(CHD2):c.191C>T (p.Ser64Leu) rs759974626 0.00001
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu) rs773901289 0.00001
NM_001271.4(CHD2):c.2352+3A>G rs2053846534 0.00001
NM_001271.4(CHD2):c.2505+23T>C rs780074323 0.00001
NM_001271.4(CHD2):c.2506-46A>G rs549581041 0.00001
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001271.4(CHD2):c.2568T>A (p.Asp856Glu) rs770126779 0.00001
NM_001271.4(CHD2):c.2740C>T (p.Arg914Cys) rs1488275340 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.3067-6T>C rs901346678 0.00001
NM_001271.4(CHD2):c.30G>A (p.Glu10=) rs754725429 0.00001
NM_001271.4(CHD2):c.3151C>G (p.Gln1051Glu) rs888718300 0.00001
NM_001271.4(CHD2):c.3180G>A (p.Arg1060=) rs1005206801 0.00001
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys) rs200013427 0.00001
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu) rs1295966448 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.3538A>G (p.Ser1180Gly) rs759269259 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.3828T>C (p.His1276=) rs1171704093 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.3898G>C (p.Glu1300Gln) rs778616562 0.00001
NM_001271.4(CHD2):c.3988G>T (p.Ala1330Ser) rs1596447856 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+5G>A rs762703910 0.00001
NM_001271.4(CHD2):c.4144G>A (p.Gly1382Ser) rs1472548207 0.00001
NM_001271.4(CHD2):c.4228G>T (p.Asp1410Tyr) rs775901148 0.00001
NM_001271.4(CHD2):c.4414-3C>T rs1224217756 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.4693-25T>G rs758357386 0.00001
NM_001271.4(CHD2):c.4693-47A>G rs765124249 0.00001
NM_001271.4(CHD2):c.4713C>T (p.Asp1571=) rs749592290 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.5058C>T (p.Ser1686=) rs199851404 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.5154-3C>A rs924030126 0.00001
NM_001271.4(CHD2):c.5197C>G (p.Pro1733Ala) rs1461476360 0.00001
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys) rs767099765 0.00001
NM_001271.4(CHD2):c.5335C>G (p.Pro1779Ala) rs374271060 0.00001
NM_001271.4(CHD2):c.5362C>T (p.Arg1788Cys) rs759259416 0.00001
NM_001271.4(CHD2):c.5437C>T (p.Leu1813=) rs1160530295 0.00001
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu) rs377701152 0.00001
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803 0.00001
NM_001271.4(CHD2):c.667C>T (p.Arg223Cys) rs200830337 0.00001
NM_001271.4(CHD2):c.668G>A (p.Arg223His) rs1041959719 0.00001
NM_001271.4(CHD2):c.825A>T (p.Gly275=) rs372257500 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
GRCh37/hg19 15q26.1(chr15:93383740-93500862)x3
GRCh37/hg19 15q26.1(chr15:93392804-93540230)x3
GRCh37/hg19 15q26.1(chr15:93464314-93532937)x1
GRCh37/hg19 15q26.1(chr15:93486073-93486298)x1
NM_001271.4(CHD2):c.-88_-87dup rs756801755
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
NM_001271.4(CHD2):c.1045A>G (p.Lys349Glu)
NM_001271.4(CHD2):c.1052+114A>T rs188090316
NM_001271.4(CHD2):c.1052G>A (p.Trp351Ter) rs1555439557
NM_001271.4(CHD2):c.1053-181_1053-180del rs142689057
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
NM_001271.4(CHD2):c.1108G>C (p.Ala370Pro) rs1369387001
NM_001271.4(CHD2):c.1152A>G (p.Ile384Met)
NM_001271.4(CHD2):c.1153+1G>C
NM_001271.4(CHD2):c.1154-113del rs113903945
NM_001271.4(CHD2):c.1199-12T>A rs1474100681
NM_001271.4(CHD2):c.1199-12del rs750508601
NM_001271.4(CHD2):c.1199-8T>A
NM_001271.4(CHD2):c.1234G>T (p.Glu412Ter) rs541056569
NM_001271.4(CHD2):c.1243T>C (p.Cys415Arg) rs1596399282
NM_001271.4(CHD2):c.1296C>G (p.Leu432=) rs1596399313
NM_001271.4(CHD2):c.1297A>C (p.Ile433Leu)
NM_001271.4(CHD2):c.1349C>T (p.Ser450Leu)
NM_001271.4(CHD2):c.1377+257TTTTA[5] rs546757533
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1453C>T (p.Arg485Ter) rs1567138301
NM_001271.4(CHD2):c.1459del (p.Tyr487fs) rs2141802547
NM_001271.4(CHD2):c.1462C>T (p.Gln488Ter) rs1057518236
NM_001271.4(CHD2):c.1470A>C (p.Glu490Asp)
NM_001271.4(CHD2):c.1481G>A (p.Trp494Ter) rs886041857
NM_001271.4(CHD2):c.1497G>C (p.Trp499Cys)
NM_001271.4(CHD2):c.1535G>A (p.Gly512Asp)
NM_001271.4(CHD2):c.1540G>C (p.Gly514Arg)
NM_001271.4(CHD2):c.1546A>G (p.Thr516Ala)
NM_001271.4(CHD2):c.1590C>T (p.His530=)
NM_001271.4(CHD2):c.1591C>T (p.Gln531Ter) rs1555440558
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile) rs1368222485
NM_001271.4(CHD2):c.1652_1653del (p.Glu551fs) rs886041628
NM_001271.4(CHD2):c.1652_1653dup (p.Phe552fs) rs886041628
NM_001271.4(CHD2):c.1691A>G (p.Tyr564Cys)
NM_001271.4(CHD2):c.1691A>T (p.Tyr564Phe) rs2141811685
NM_001271.4(CHD2):c.169T>A (p.Ser57Thr)
NM_001271.4(CHD2):c.1719G>A (p.Thr573=) rs1057519228
NM_001271.4(CHD2):c.1720A>G (p.Ile574Val)
NM_001271.4(CHD2):c.1722A>G (p.Ile574Met)
NM_001271.4(CHD2):c.1724G>A (p.Arg575Gln) rs2141814810
NM_001271.4(CHD2):c.1749A>C (p.Gln583His) rs1064796220
NM_001271.4(CHD2):c.1757G>A (p.Arg586Lys) rs2141814855
NM_001271.4(CHD2):c.1779A>G (p.Ile593Met)
NM_001271.4(CHD2):c.1802_1809+46del
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1810A>G (p.Thr604Ala)
NM_001271.4(CHD2):c.1831T>C (p.Trp611Arg)
NM_001271.4(CHD2):c.1850A>G (p.Asp617Gly) rs1064794545
NM_001271.4(CHD2):c.1861C>T (p.Arg621Trp) rs1064795815
NM_001271.4(CHD2):c.1931T>C (p.Ile644Thr) rs1555440889
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.1961A>G (p.Lys654Arg)
NM_001271.4(CHD2):c.1962A>G (p.Lys654=) rs1596407148
NM_001271.4(CHD2):c.1994C>A (p.Pro665Gln) rs773901289
NM_001271.4(CHD2):c.2008T>A (p.Phe670Ile) rs2141830606
NM_001271.4(CHD2):c.2011T>C (p.Trp671Arg)
NM_001271.4(CHD2):c.2033A>T (p.His678Leu)
NM_001271.4(CHD2):c.205G>C (p.Glu69Gln)
NM_001271.4(CHD2):c.2076G>C (p.Val692=)
NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.214G>T (p.Gly72Cys)
NM_001271.4(CHD2):c.2169C>T (p.Ala723=) rs745604322
NM_001271.4(CHD2):c.2189+1G>T rs2141830701
NM_001271.4(CHD2):c.2189+21G>A rs190676730
NM_001271.4(CHD2):c.2189+21G>C rs190676730
NM_001271.4(CHD2):c.2189+4A>T
NM_001271.4(CHD2):c.2189+99del rs144172255
NM_001271.4(CHD2):c.2190-123T>A rs79049389
NM_001271.4(CHD2):c.2190-144C>G rs77234773
NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
NM_001271.4(CHD2):c.2280A>G (p.Lys760=)
NM_001271.4(CHD2):c.2308C>T (p.Pro770Ser) rs1064794433
NM_001271.4(CHD2):c.2318A>C (p.Glu773Ala)
NM_001271.4(CHD2):c.231_234dup (p.Leu79fs) rs2053019508
NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro) rs2053846412
NM_001271.4(CHD2):c.2339A>T (p.Gln780Leu) rs2053846412
NM_001271.4(CHD2):c.2391C>G (p.Asp797Glu) rs2141836188
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg) rs372801085
NM_001271.4(CHD2):c.2423A>G (p.Asn808Ser) rs1064794729
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001271.4(CHD2):c.2472T>C (p.Ala824=)
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+39C>G rs148270309
NM_001271.4(CHD2):c.2505+4A>G rs767309501
NM_001271.4(CHD2):c.2519C>A (p.Ser840Tyr)
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001271.4(CHD2):c.2543A>G (p.Gln848Arg) rs1064796424
NM_001271.4(CHD2):c.2546C>G (p.Ala849Gly) rs2141839151
NM_001271.4(CHD2):c.2547A>C (p.Ala849=)
NM_001271.4(CHD2):c.2566G>T (p.Asp856Tyr)
NM_001271.4(CHD2):c.2578-2A>G
NM_001271.4(CHD2):c.2597C>T (p.Ser866Leu) rs1085308000
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2647G>A (p.Val883Ile)
NM_001271.4(CHD2):c.2666G>A (p.Trp889Ter) rs2053935397
NM_001271.4(CHD2):c.2674C>T (p.Gln892Ter) rs1567149938
NM_001271.4(CHD2):c.2674del (p.Gln892fs) rs1596427956
NM_001271.4(CHD2):c.2680G>A (p.Asp894Asn)
NM_001271.4(CHD2):c.2686C>T (p.Gln896Ter) rs2141843235
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val) rs2141843246
NM_001271.4(CHD2):c.2718A>C (p.Gln906His)
NM_001271.4(CHD2):c.271G>T (p.Glu91Ter) rs886041650
NM_001271.4(CHD2):c.2722A>C (p.Lys908Gln)
NM_001271.4(CHD2):c.2739C>T (p.Tyr913=)
NM_001271.4(CHD2):c.2759C>T (p.Thr920Ile) rs2141844210
NM_001271.4(CHD2):c.2776A>G (p.Ile926Val)
NM_001271.4(CHD2):c.2785G>C (p.Ala929Pro) rs1064796378
NM_001271.4(CHD2):c.2799G>A (p.Met933Ile) rs1567150265
NM_001271.4(CHD2):c.2858A>G (p.Asn953Ser) rs2141844278
NM_001271.4(CHD2):c.295-254_295-253insGTTTAT rs11283408
NM_001271.4(CHD2):c.3067-2A>G rs886041717
NM_001271.4(CHD2):c.3113G>A (p.Arg1038His)
NM_001271.4(CHD2):c.3122A>G (p.Lys1041Arg)
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.3155G>C (p.Arg1052Thr) rs2141850628
NM_001271.4(CHD2):c.3161A>G (p.Lys1054Arg)
NM_001271.4(CHD2):c.3189G>C (p.Glu1063Asp)
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3215G>T (p.Arg1072Leu) rs1596436515
NM_001271.4(CHD2):c.3220del (p.Arg1074fs) rs886041783
NM_001271.4(CHD2):c.3257A>G (p.Asp1086Gly)
NM_001271.4(CHD2):c.3268G>T (p.Glu1090Ter)
NM_001271.4(CHD2):c.3318_3320delinsTGATGATGACAAGAAGTGTCATCTGCTTCTGAGAGTGAAACGGATC (p.Glu1106fs) rs1555443477
NM_001271.4(CHD2):c.3335A>G (p.Lys1112Arg)
NM_001271.4(CHD2):c.3365G>A (p.Ser1122Asn) rs1064794790
NM_001271.4(CHD2):c.3367G>C (p.Val1123Leu)
NM_001271.4(CHD2):c.3370C>T (p.Arg1124Trp) rs1454060267
NM_001271.4(CHD2):c.3392T>A (p.Phe1131Tyr) rs2141852043
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001271.4(CHD2):c.3410G>A (p.Arg1137Gln)
NM_001271.4(CHD2):c.3445_3448del (p.Pro1149fs) rs2054119238
NM_001271.4(CHD2):c.344G>C (p.Ser115Thr)
NM_001271.4(CHD2):c.3455+191_3455+192del
NM_001271.4(CHD2):c.3455+193_3455+194insCTCCCT
NM_001271.4(CHD2):c.3456-299C>T rs114897752
NM_001271.4(CHD2):c.3472C>T (p.Arg1158Cys)
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.3521G>A (p.Gly1174Asp) rs2141861645
NM_001271.4(CHD2):c.3526C>A (p.Leu1176Met) rs1555444216
NM_001271.4(CHD2):c.3548C>A (p.Ser1183Ter) rs775406327
NM_001271.4(CHD2):c.3554T>C (p.Met1185Thr)
NM_001271.4(CHD2):c.3564C>G (p.Tyr1188Ter) rs2272457
NM_001271.4(CHD2):c.3566A>G (p.Glu1189Gly)
NM_001271.4(CHD2):c.3571C>T (p.Gln1191Ter) rs2054139802
NM_001271.4(CHD2):c.3589A>G (p.Ser1197Gly)
NM_001271.4(CHD2):c.359C>T (p.Ser120Leu)
NM_001271.4(CHD2):c.3605C>T (p.Pro1202Leu)
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.3622C>A (p.Pro1208Thr)
NM_001271.4(CHD2):c.362G>T (p.Arg121Leu) rs1064795319
NM_001271.4(CHD2):c.3686T>G (p.Phe1229Cys) rs1064795362
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg) rs2054197477
NM_001271.4(CHD2):c.3700A>T (p.Lys1234Ter) rs1596447013
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
NM_001271.4(CHD2):c.3702dup (p.Ser1235fs) rs1596447015
NM_001271.4(CHD2):c.3718C>G (p.Pro1240Ala) rs1555444583
NM_001271.4(CHD2):c.3718C>T (p.Pro1240Ser)
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=) rs2054197942
NM_001271.4(CHD2):c.3734+20A>G rs765676490
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter) rs1555444603
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3783G>T (p.Trp1261Cys) rs2141867643
NM_001271.4(CHD2):c.3786_3787del (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3796G>T (p.Asp1266Tyr)
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
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.3853A>T (p.Lys1285Ter) rs2054201060
NM_001271.4(CHD2):c.3876A>T (p.Leu1292Phe)
NM_001271.4(CHD2):c.3886-366C>T
NM_001271.4(CHD2):c.3886A>T (p.Ile1296Phe)
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.3942G>A (p.Ala1314=)
NM_001271.4(CHD2):c.3949T>C (p.Leu1317=) rs1064797203
NM_001271.4(CHD2):c.3964A>G (p.Arg1322Gly) rs1555444712
NM_001271.4(CHD2):c.3989del (p.Ala1330fs) rs1131692014
NM_001271.4(CHD2):c.399G>C (p.Glu133Asp)
NM_001271.4(CHD2):c.3G>T (p.Met1Ile)
NM_001271.4(CHD2):c.4008+237C>T rs7174043
NM_001271.4(CHD2):c.4009-13_4009-4del
NM_001271.4(CHD2):c.4030C>G (p.Pro1344Ala) rs1228128891
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln) rs751507887
NM_001271.4(CHD2):c.4054G>C (p.Val1352Leu)
NM_001271.4(CHD2):c.4079del (p.Gly1360fs) rs1317103929
NM_001271.4(CHD2):c.4081del (p.Ile1361fs) rs1555444862
NM_001271.4(CHD2):c.4127G>A (p.Gly1376Glu)
NM_001271.4(CHD2):c.4137+3A>T rs1064794837
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4176_4177del (p.Lys1393fs) rs2141873663
NM_001271.4(CHD2):c.4190A>G (p.Asn1397Ser) rs2141873684
NM_001271.4(CHD2):c.4235A>G (p.Glu1412Gly) rs1064795470
NM_001271.4(CHD2):c.4238G>A (p.Gly1413Glu)
NM_001271.4(CHD2):c.4246G>A (p.Glu1416Lys)
NM_001271.4(CHD2):c.425A>G (p.Gln142Arg)
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
NM_001271.4(CHD2):c.4278G>C (p.Lys1426Asn)
NM_001271.4(CHD2):c.4304C>T (p.Ser1435Leu)
NM_001271.4(CHD2):c.4339A>G (p.Ile1447Val) rs1596452072
NM_001271.4(CHD2):c.4366A>T (p.Ile1456Phe)
NM_001271.4(CHD2):c.4381G>A (p.Asp1461Asn)
NM_001271.4(CHD2):c.4413+1G>A rs886041547
NM_001271.4(CHD2):c.443+4A>C
NM_001271.4(CHD2):c.444-237dup rs11369234
NM_001271.4(CHD2):c.444-4del rs1567132874
NM_001271.4(CHD2):c.4459G>A (p.Asp1487Asn)
NM_001271.4(CHD2):c.4466C>T (p.Pro1489Leu)
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp) rs776113114
NM_001271.4(CHD2):c.4507C>T (p.Arg1503Trp) rs764680752
NM_001271.4(CHD2):c.4523A>C (p.Lys1508Thr) rs2141881622
NM_001271.4(CHD2):c.4528G>A (p.Gly1510Arg)
NM_001271.4(CHD2):c.4535G>A (p.Arg1512Gln) rs1064795397
NM_001271.4(CHD2):c.4546T>G (p.Cys1516Gly)
NM_001271.4(CHD2):c.4550T>A (p.Leu1517His) rs2141881646
NM_001271.4(CHD2):c.4553A>G (p.Lys1518Arg)
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr) rs1183987736
NM_001271.4(CHD2):c.4567C>G (p.Gln1523Glu) rs372786805
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter) rs372786805
NM_001271.4(CHD2):c.4573C>G (p.His1525Asp) rs2141881675
NM_001271.4(CHD2):c.4576A>G (p.Ile1526Val)
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.4592+37_4592+38delinsG rs2141881755
NM_001271.4(CHD2):c.4592+3_4592+5dup
NM_001271.4(CHD2):c.4597C>G (p.Leu1533Val)
NM_001271.4(CHD2):c.4621A>G (p.Thr1541Ala)
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter) rs1064796449
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg) rs1428758251
NM_001271.4(CHD2):c.4682_4683insT (p.Gln1561fs)
NM_001271.4(CHD2):c.4693-136dup rs199887394
NM_001271.4(CHD2):c.4706_4709del (p.Lys1569fs) rs886041566
NM_001271.4(CHD2):c.4806C>G (p.His1602Gln) rs527477898
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His) rs1427359303
NM_001271.4(CHD2):c.4859C>G (p.Pro1620Arg)
NM_001271.4(CHD2):c.4860_4880del (p.Arg1621_Pro1627del)
NM_001271.4(CHD2):c.4871A>G (p.Tyr1624Cys)
NM_001271.4(CHD2):c.4891C>T (p.His1631Tyr) rs774401500
NM_001271.4(CHD2):c.4893_4905del (p.His1631fs) rs1596458294
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr) rs761860129
NM_001271.4(CHD2):c.4906+179dup rs368505383
NM_001271.4(CHD2):c.4906+2T>G rs2141888382
NM_001271.4(CHD2):c.4907-5T>A
NM_001271.4(CHD2):c.4907-65dup rs57995034
NM_001271.4(CHD2):c.4907-66_4907-65dup rs57995034
NM_001271.4(CHD2):c.4907-67_4907-65dup rs57995034
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4932A>T (p.Arg1644Ser) rs1567166830
NM_001271.4(CHD2):c.4932_4935del (p.Arg1644fs)
NM_001271.4(CHD2):c.4935del (p.Lys1645fs) rs2141895144
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.4952G>A (p.Gly1651Asp)
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4975A>T (p.Ser1659Cys) rs2141895195
NM_001271.4(CHD2):c.4985_4986dup (p.His1663fs) rs2054514812
NM_001271.4(CHD2):c.4994A>G (p.Tyr1665Cys)
NM_001271.4(CHD2):c.4999C>T (p.Gln1667Ter) rs1057523601
NM_001271.4(CHD2):c.5026G>A (p.Gly1676Arg) rs2141895266
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5037A>T (p.Arg1679=)
NM_001271.4(CHD2):c.5039A>G (p.His1680Arg) rs2141895288
NM_001271.4(CHD2):c.5048C>T (p.Ala1683Val)
NM_001271.4(CHD2):c.5053del (p.Arg1685fs)
NM_001271.4(CHD2):c.5058C>G (p.Ser1686=)
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn) rs1555446342
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) rs761127171
NM_001271.4(CHD2):c.5072C>T (p.Pro1691Leu) rs1227123179
NM_001271.4(CHD2):c.5105A>C (p.Gln1702Pro) rs1064796157
NM_001271.4(CHD2):c.5105A>G (p.Gln1702Arg) rs1064796157
NM_001271.4(CHD2):c.5128C>G (p.Arg1710Gly)
NM_001271.4(CHD2):c.5132dup (p.His1712fs)
NM_001271.4(CHD2):c.5136C>G (p.His1712Gln)
NM_001271.4(CHD2):c.5153+1G>A
NM_001271.4(CHD2):c.5154-5T>G
NM_001271.4(CHD2):c.5162A>G (p.His1721Arg) rs2054568715
NM_001271.4(CHD2):c.5173C>T (p.Arg1725Trp) rs1555446665
NM_001271.4(CHD2):c.5182T>G (p.Ser1728Ala) rs1064795566
NM_001271.4(CHD2):c.5185G>T (p.Asp1729Tyr)
NM_001271.4(CHD2):c.5192T>G (p.Phe1731Cys)
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln) rs1230076038
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001271.4(CHD2):c.5246C>G (p.Pro1749Arg)
NM_001271.4(CHD2):c.5272C>G (p.Pro1758Ala)
NM_001271.4(CHD2):c.5295C>G (p.Phe1765Leu)
NM_001271.4(CHD2):c.5371C>G (p.Pro1791Ala) rs1273588349
NM_001271.4(CHD2):c.5372C>A (p.Pro1791His)
NM_001271.4(CHD2):c.5393_5401dup (p.Lys1800_Ser1801insTyrSerLys)
NM_001271.4(CHD2):c.5404C>G (p.Pro1802Ala) rs2141761756
NM_001271.4(CHD2):c.5420C>G (p.Ser1807Cys)
NM_001271.4(CHD2):c.5456C>G (p.Pro1819Arg)
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.608A>T (p.Lys203Ile)
NM_001271.4(CHD2):c.616G>C (p.Asp206His) rs2141778412
NM_001271.4(CHD2):c.62+3A>G
NM_001271.4(CHD2):c.620C>A (p.Ser207Tyr)
NM_001271.4(CHD2):c.625G>C (p.Asp209His)
NM_001271.4(CHD2):c.62G>C (p.Ser21Thr) rs1596359879
NM_001271.4(CHD2):c.63-197G>T rs8026695
NM_001271.4(CHD2):c.63-9_63-8insTG
NM_001271.4(CHD2):c.633TGA[3] (p.Asp215del) rs1596392521
NM_001271.4(CHD2):c.667C>G (p.Arg223Gly) rs200830337
NM_001271.4(CHD2):c.674G>T (p.Arg225Ile)
NM_001271.4(CHD2):c.693-2A>T rs886039708
NM_001271.4(CHD2):c.696C>G (p.Tyr232Ter)
NM_001271.4(CHD2):c.702A>T (p.Glu234Asp)
NM_001271.4(CHD2):c.808A>G (p.Arg270Gly)
NM_001271.4(CHD2):c.819G>T (p.Lys273Asn)
NM_001271.4(CHD2):c.820_823del (p.Lys274fs)
NM_001271.4(CHD2):c.824G>A (p.Gly275Glu)
NM_001271.4(CHD2):c.827-193dup rs3841660
NM_001271.4(CHD2):c.830C>G (p.Thr277Ser) rs2141787330
NM_001271.4(CHD2):c.847G>C (p.Val283Leu)
NM_001271.4(CHD2):c.880G>A (p.Gly294Ser)
NM_001271.4(CHD2):c.901G>C (p.Asp301His)
NM_001271.4(CHD2):c.921C>A (p.Tyr307Ter)
NM_001271.4(CHD2):c.940T>C (p.Trp314Arg) rs2141787528
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter) rs1555439545
NM_001271.4(CHD2):c.982C>A (p.Gln328Lys)
NM_001271.4(CHD2):c.982C>T (p.Gln328Ter) rs1085307766
NM_001271.4(CHD2):c.983A>T (p.Gln328Leu) rs1195504144
NM_001271.4(CHD2):c.991A>G (p.Lys331Glu)

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