ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy 94 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1558
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HGVS dbSNP gnomAD frequency
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=)
NM_001271.4(CHD2):c.5104C>G (p.Gln1702Glu) rs1478847821
NM_001271.4(CHD2):c.5109C>T (p.Tyr1703=) rs2141895374
NM_001271.4(CHD2):c.5110A>T (p.Ser1704Cys)
NM_001271.4(CHD2):c.5111G>A (p.Ser1704Asn) rs2054516537
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=)
NM_001271.4(CHD2):c.5136_5137del (p.His1712fs) rs2054516766
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
NM_001271.4(CHD2):c.5153+1G>T rs761115271
NM_001271.4(CHD2):c.5153+20A>G
NM_001271.4(CHD2):c.5153+8A>G rs1032969529
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
NM_001271.4(CHD2):c.5163T>C (p.His1721=)
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln) rs1240488615
NM_001271.4(CHD2):c.5185G>A (p.Asp1729Asn)
NM_001271.4(CHD2):c.5192T>G (p.Phe1731Cys)
NM_001271.4(CHD2):c.5199T>G (p.Pro1733=)
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
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)
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=)

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