ClinVar Miner

List of variants in gene CHD2 reported as likely benign for developmental and epileptic encephalopathy 94

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 685
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
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.1810-3T>C rs189339982 0.00041
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu) rs370464322 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.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.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.4593-19T>C rs377557426 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.4953C>T (p.Gly1651=) rs201939255 0.00011
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
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.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.180T>G (p.Ser60=) rs747415863 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.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.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.1359C>T (p.Ile453=) rs777978644 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.4025G>A (p.Arg1342Gln) rs143503275 0.00004
NM_001271.4(CHD2):c.4032T>G (p.Pro1344=) rs547927047 0.00004
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=) rs772169751 0.00004
NM_001271.4(CHD2):c.4592+17C>T rs184611897 0.00004
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=) rs766244767 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.3067-19A>G rs749337105 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.4029G>A (p.Lys1343=) rs200781322 0.00003
NM_001271.4(CHD2):c.4036G>T (p.Val1346Leu) rs200178864 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.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.1215G>A (p.Pro405=) rs144294063 0.00002
NM_001271.4(CHD2):c.1242A>G (p.Leu414=) rs749255095 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.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.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.5073C>T (p.Pro1691=) rs754504518 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.5370C>T (p.Pro1790=) rs756324303 0.00002
NM_001271.4(CHD2):c.5391C>T (p.His1797=) rs755395580 0.00002
NM_001271.4(CHD2):c.63-15C>G rs372471036 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.87G>A (p.Ser29=) rs560296130 0.00002
NM_001271.4(CHD2):c.1052+14C>G rs146319346 0.00001
NM_001271.4(CHD2):c.1104G>A (p.Glu368=) rs757569320 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.1220C>T (p.Pro407Leu) rs372219984 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.1321A>T (p.Ile441Phe) rs763586960 0.00001
NM_001271.4(CHD2):c.1335C>T (p.His445=) rs140008471 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.159G>A (p.Ser53=) rs552271683 0.00001
NM_001271.4(CHD2):c.1668A>G (p.Ala556=) rs1060504937 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.1914C>T (p.Ser638=) rs1304257967 0.00001
NM_001271.4(CHD2):c.1968C>T (p.Leu656=) rs1159091696 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.2189A>G (p.Lys730Arg) rs767965789 0.00001
NM_001271.4(CHD2):c.219C>G (p.Ser73=) rs140718403 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.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.2553C>T (p.Asp851=) rs2053887874 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.2865A>G (p.Ser955=) rs769531663 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.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.3354G>C (p.Gly1118=) rs747316316 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.3570G>A (p.Glu1190=) rs1304626183 0.00001
NM_001271.4(CHD2):c.357A>G (p.Pro119=) rs770307318 0.00001
NM_001271.4(CHD2):c.3591C>T (p.Ser1197=) rs753318183 0.00001
NM_001271.4(CHD2):c.3595+7G>A rs527839842 0.00001
NM_001271.4(CHD2):c.3639C>T (p.Ser1213=) rs373621677 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.3828T>C (p.His1276=) rs1171704093 0.00001
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=) rs1356992069 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.4137+17C>T rs761732184 0.00001
NM_001271.4(CHD2):c.4137+18G>A rs1246012548 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.4227A>G (p.Lys1409=) rs917584577 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.4321T>G (p.Ser1441Ala) rs1006566437 0.00001
NM_001271.4(CHD2):c.4363C>G (p.Pro1455Ala) rs1184559933 0.00001
NM_001271.4(CHD2):c.4512C>T (p.Asn1504=) rs750989875 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.4692+7T>C rs748728212 0.00001
NM_001271.4(CHD2):c.4713C>T (p.Asp1571=) rs749592290 0.00001
NM_001271.4(CHD2):c.4791C>T (p.Thr1597=) rs560317096 0.00001
NM_001271.4(CHD2):c.4815G>A (p.Lys1605=) rs2054437516 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.4976G>A (p.Ser1659Asn) rs748829883 0.00001
NM_001271.4(CHD2):c.4992G>A (p.Gln1664=) rs1289862557 0.00001
NM_001271.4(CHD2):c.5019C>T (p.His1673=) rs767814807 0.00001
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=) rs199851404 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.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.5148T>C (p.Tyr1716=) rs773497328 0.00001
NM_001271.4(CHD2):c.5184C>T (p.Ser1728=) rs781575273 0.00001
NM_001271.4(CHD2):c.525A>G (p.Val175=) rs369466744 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.53A>G (p.Asn18Ser) rs1034044226 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.5478G>A (p.Arg1826=) rs769748892 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.602A>T (p.Lys201Met) rs1369732003 0.00001
NM_001271.4(CHD2):c.660G>A (p.Arg220=) rs1466513798 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.798C>G (p.Val266=) rs1302498638 0.00001
NM_001271.4(CHD2):c.870C>T (p.Gly290=) rs748380979 0.00001
NM_001271.4(CHD2):c.918G>A (p.Gln306=) rs373093638 0.00001
NM_001271.4(CHD2):c.1008A>G (p.Lys336=)
NM_001271.4(CHD2):c.1011A>G (p.Lys337=)
NM_001271.4(CHD2):c.1032A>G (p.Lys344=)
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.1053-11C>G rs2141790964
NM_001271.4(CHD2):c.1053-17G>A
NM_001271.4(CHD2):c.1080A>G (p.Val360=)
NM_001271.4(CHD2):c.111G>A (p.Ser37=)
NM_001271.4(CHD2):c.1125A>G (p.Lys375=)
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.1198+12A>G
NM_001271.4(CHD2):c.1198+18T>C
NM_001271.4(CHD2):c.1199-12T>A rs1474100681
NM_001271.4(CHD2):c.1199-20A>T
NM_001271.4(CHD2):c.1199-8T>C rs2141795407
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.1225A>C (p.Asn409His) rs531251618
NM_001271.4(CHD2):c.1260C>G (p.Leu420=) rs772268139
NM_001271.4(CHD2):c.1272G>A (p.Glu424=)
NM_001271.4(CHD2):c.1284A>G (p.Glu428=) rs2141795543
NM_001271.4(CHD2):c.1293C>T (p.Ala431=)
NM_001271.4(CHD2):c.1347C>T (p.Asn449=)
NM_001271.4(CHD2):c.1377+12G>T
NM_001271.4(CHD2):c.1377+16G>T rs1182159823
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.1502+18A>G
NM_001271.4(CHD2):c.1502+19G>T
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.1521T>G (p.Leu507=) rs2141811515
NM_001271.4(CHD2):c.1524T>G (p.Ala508=)
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.159G>T (p.Ser53=)
NM_001271.4(CHD2):c.1602C>T (p.Gly534=) rs2141811584
NM_001271.4(CHD2):c.1629C>G (p.Ser543=)
NM_001271.4(CHD2):c.1632C>T (p.Thr544=)
NM_001271.4(CHD2):c.1641A>G (p.Ser547=)
NM_001271.4(CHD2):c.1686G>C (p.Val562=) rs2141811679
NM_001271.4(CHD2):c.1719+18G>T
NM_001271.4(CHD2):c.171T>C (p.Ser57=) rs2053018449
NM_001271.4(CHD2):c.171T>G (p.Ser57=)
NM_001271.4(CHD2):c.1720-17A>C
NM_001271.4(CHD2):c.1720-17A>G
NM_001271.4(CHD2):c.1720-7C>T
NM_001271.4(CHD2):c.1720-8T>C rs2053606565
NM_001271.4(CHD2):c.1723C>A (p.Arg575=)
NM_001271.4(CHD2):c.1756A>C (p.Arg586=) rs1596406455
NM_001271.4(CHD2):c.1759T>C (p.Leu587=)
NM_001271.4(CHD2):c.1771G>A (p.Ala591Thr) rs1060503521
NM_001271.4(CHD2):c.1791G>A (p.Glu597=)
NM_001271.4(CHD2):c.1809+15T>A
NM_001271.4(CHD2):c.1810-20C>G
NM_001271.4(CHD2):c.1815G>A (p.Val605=)
NM_001271.4(CHD2):c.1836C>G (p.Ala612=)
NM_001271.4(CHD2):c.1881T>C (p.Ser627=) rs2141816554
NM_001271.4(CHD2):c.1913C>G (p.Ser638Cys) rs2053619310
NM_001271.4(CHD2):c.1920T>C (p.His640=) rs755517341
NM_001271.4(CHD2):c.1935G>A (p.Thr645=) rs779686192
NM_001271.4(CHD2):c.1956C>A (p.Ser652=)
NM_001271.4(CHD2):c.1986T>C (p.Phe662=)
NM_001271.4(CHD2):c.2000+13C>T
NM_001271.4(CHD2):c.2000+15G>C
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.2019T>C (p.Asp673=)
NM_001271.4(CHD2):c.2043G>T (p.Gly681=)
NM_001271.4(CHD2):c.204C>T (p.Ser68=)
NM_001271.4(CHD2):c.2067T>G (p.Leu689=)
NM_001271.4(CHD2):c.2070T>C (p.His690=)
NM_001271.4(CHD2):c.2076G>T (p.Val692=)
NM_001271.4(CHD2):c.2077C>T (p.Leu693=)
NM_001271.4(CHD2):c.2097G>T (p.Arg699=)
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.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.219C>A (p.Ser73=)
NM_001271.4(CHD2):c.2211C>T (p.Tyr737=)
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.225C>T (p.Ser75=) rs144667627
NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
NM_001271.4(CHD2):c.2280A>G (p.Lys760=)
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.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.2353-18T>C
NM_001271.4(CHD2):c.2358C>T (p.Leu786=) rs760012115
NM_001271.4(CHD2):c.2362A>C (p.Arg788=)
NM_001271.4(CHD2):c.237C>T (p.Leu79=)
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.2412A>T (p.Arg804=) rs2141836205
NM_001271.4(CHD2):c.2418G>A (p.Arg806=) rs1330473840
NM_001271.4(CHD2):c.245C>G (p.Ala82Gly) rs548561366
NM_001271.4(CHD2):c.2475A>G (p.Glu825=)
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.2511G>T (p.Leu837=) rs2053887597
NM_001271.4(CHD2):c.2535C>A (p.Ile845=)
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.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.2592G>A (p.Leu864=) rs2141843178
NM_001271.4(CHD2):c.2595C>G (p.Leu865=) rs1478427410
NM_001271.4(CHD2):c.2614C>T (p.Leu872=) rs2141843184
NM_001271.4(CHD2):c.2628G>A (p.Leu876=)
NM_001271.4(CHD2):c.2646C>T (p.Val882=)
NM_001271.4(CHD2):c.2650A>G (p.Ile884Val) rs2053935304
NM_001271.4(CHD2):c.2682C>T (p.Asp894=)
NM_001271.4(CHD2):c.2700A>G (p.Arg900=)
NM_001271.4(CHD2):c.2727+16C>T
NM_001271.4(CHD2):c.2727+20T>A
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.2743T>C (p.Leu915=) rs112279925
NM_001271.4(CHD2):c.2847G>A (p.Thr949=) rs756812749
NM_001271.4(CHD2):c.2876+10A>G rs2053946994
NM_001271.4(CHD2):c.2876+7G>T rs2141844294
NM_001271.4(CHD2):c.294+19A>G
NM_001271.4(CHD2):c.294+20G>A
NM_001271.4(CHD2):c.294+7A>G rs1351696136
NM_001271.4(CHD2):c.295-12_295-11del
NM_001271.4(CHD2):c.3067-10C>G rs2141850547
NM_001271.4(CHD2):c.3078T>C (p.Phe1026=) rs2141850566
NM_001271.4(CHD2):c.3111G>A (p.Glu1037=) rs2141850590
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.3153A>G (p.Gln1051=) rs1312097410
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.3237+19A>G
NM_001271.4(CHD2):c.3237+20G>A
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>T rs1555443468
NM_001271.4(CHD2):c.3264C>T (p.Asp1088=)
NM_001271.4(CHD2):c.3265A>C (p.Thr1089Pro) rs1596437938
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.3333C>T (p.Asp1111=)
NM_001271.4(CHD2):c.3345G>A (p.Lys1115=) rs2054031847
NM_001271.4(CHD2):c.3360G>A (p.Pro1120=)
NM_001271.4(CHD2):c.3381C>T (p.Leu1127=)
NM_001271.4(CHD2):c.3387G>A (p.Glu1129=)
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.3414-5C>T
NM_001271.4(CHD2):c.3414-5_3414-3del
NM_001271.4(CHD2):c.3417C>T (p.Phe1139=)
NM_001271.4(CHD2):c.3455+11T>C rs2141859897
NM_001271.4(CHD2):c.3455+12G>A
NM_001271.4(CHD2):c.3455+9A>G rs199958087
NM_001271.4(CHD2):c.3456-15T>C
NM_001271.4(CHD2):c.3456-19C>G rs780531827
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.3486G>A (p.Leu1162=) rs1229609376
NM_001271.4(CHD2):c.3486G>C (p.Leu1162=)
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>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.3576G>A (p.Leu1192=)
NM_001271.4(CHD2):c.3579A>G (p.Lys1193=) rs2141861699
NM_001271.4(CHD2):c.3595+14G>A
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.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.3684G>A (p.Glu1228=) rs766134171
NM_001271.4(CHD2):c.3687T>C (p.Phe1229=)
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg) rs2054197477
NM_001271.4(CHD2):c.3705T>C (p.Ser1235=)
NM_001271.4(CHD2):c.3708C>T (p.Ile1236=) rs2054197617
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=) rs2054197942
NM_001271.4(CHD2):c.3732A>G (p.Lys1244=)
NM_001271.4(CHD2):c.3734+20A>C
NM_001271.4(CHD2):c.3734+20A>G rs765676490
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.3738C>T (p.Tyr1246=) rs2054200384
NM_001271.4(CHD2):c.3801T>C (p.Ser1267=)
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.3811C>T (p.Leu1271=)
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.382-9A>C rs1555437848
NM_001271.4(CHD2):c.3879T>A (p.Thr1293=) rs2054201169
NM_001271.4(CHD2):c.3885+16A>G
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.3886-9T>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.3903A>G (p.Thr1301=) rs200766577
NM_001271.4(CHD2):c.3936C>G (p.Thr1312=)
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
NM_001271.4(CHD2):c.3958C>T (p.Leu1320=) rs2141868909
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+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.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.4067A>G (p.Lys1356Arg)
NM_001271.4(CHD2):c.4074G>A (p.Glu1358=)
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.4099A>C (p.Arg1367=)
NM_001271.4(CHD2):c.4125G>A (p.Glu1375=) rs2054242561
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.4188G>A (p.Glu1396=)
NM_001271.4(CHD2):c.4191CAAGGAGAA[1] (p.1397NKE[1]) rs779732210
NM_001271.4(CHD2):c.4257G>A (p.Lys1419=) rs1318336358
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.4278+20C>G rs762068313
NM_001271.4(CHD2):c.4278+4ATG[3] rs780977518
NM_001271.4(CHD2):c.4278+7A>T rs1000622773
NM_001271.4(CHD2):c.4279-12C>G
NM_001271.4(CHD2):c.4296C>G (p.Ala1432=) rs1596452047
NM_001271.4(CHD2):c.42G>C (p.Ser14=)
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)
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.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.443+16G>A
NM_001271.4(CHD2):c.443+20A>G
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.4470C>T (p.Asp1490=)
NM_001271.4(CHD2):c.4476G>A (p.Gly1492=)
NM_001271.4(CHD2):c.4497G>A (p.Leu1499=)
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.4511A>G (p.Asn1504Ser) rs2141881607
NM_001271.4(CHD2):c.4516C>T (p.Leu1506=)
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.456A>G (p.Lys152=) rs2141773450
NM_001271.4(CHD2):c.4578C>A (p.Ile1526=)
NM_001271.4(CHD2):c.4578C>T (p.Ile1526=) rs143876394
NM_001271.4(CHD2):c.4584C>A (p.Leu1528=)
NM_001271.4(CHD2):c.4584C>T (p.Leu1528=) rs543526502
NM_001271.4(CHD2):c.4592+11T>G
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.4593-4T>G rs2141885411
NM_001271.4(CHD2):c.45A>G (p.Leu15=) rs1009840698
NM_001271.4(CHD2):c.4626A>G (p.Glu1542=) rs2054404334
NM_001271.4(CHD2):c.462A>G (p.Glu154=)
NM_001271.4(CHD2):c.4653A>G (p.Leu1551=)
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.4727A>G (p.Lys1576Arg) rs2141888165
NM_001271.4(CHD2):c.4728G>A (p.Lys1576=)
NM_001271.4(CHD2):c.4749C>T (p.Ala1583=) rs1183396141
NM_001271.4(CHD2):c.4758C>T (p.Ser1586=)
NM_001271.4(CHD2):c.477A>G (p.Glu159=) rs2141773476
NM_001271.4(CHD2):c.4797C>T (p.His1599=) rs1596458228
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.4866T>C (p.Asp1622=) rs2141888326
NM_001271.4(CHD2):c.486A>G (p.Gln162=)
NM_001271.4(CHD2):c.4890A>G (p.Arg1630=) rs1596458291
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile) rs761860129
NM_001271.4(CHD2):c.4906+16dup
NM_001271.4(CHD2):c.4906+19T>C
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.4926G>A (p.Arg1642=) rs2141895125
NM_001271.4(CHD2):c.4938C>T (p.Phe1646=)
NM_001271.4(CHD2):c.4945G>A (p.Gly1649Ser) rs781717447
NM_001271.4(CHD2):c.4958A>G (p.Asn1653Ser) rs2054514401
NM_001271.4(CHD2):c.4968A>T (p.Pro1656=)
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.5025T>C (p.Tyr1675=)
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg) rs770784804
NM_001271.4(CHD2):c.5058C>G (p.Ser1686=)
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn) rs1555446342
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser) rs764702103
NM_001271.4(CHD2):c.5103C>T (p.Asp1701=)
NM_001271.4(CHD2):c.5109C>T (p.Tyr1703=) rs2141895374
NM_001271.4(CHD2):c.5136C>T (p.His1712=)
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp) rs1555446358
NM_001271.4(CHD2):c.5153+13C>T rs2141895433
NM_001271.4(CHD2):c.5153+15G>A
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.5163T>C (p.His1721=)
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln) rs1240488615
NM_001271.4(CHD2):c.5199T>G (p.Pro1733=)
NM_001271.4(CHD2):c.5202A>G (p.Gln1734=)
NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln) rs1230076038
NM_001271.4(CHD2):c.5274C>T (p.Pro1758=)
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly) rs1596463935
NM_001271.4(CHD2):c.5343C>T (p.His1781=) rs190327730
NM_001271.4(CHD2):c.5406C>T (p.Pro1802=) rs1567168673
NM_001271.4(CHD2):c.5454C>T (p.Asn1818=)
NM_001271.4(CHD2):c.551+17A>C
NM_001271.4(CHD2):c.551+8G>A
NM_001271.4(CHD2):c.552-10C>G
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.595C>A (p.Arg199Ser) rs764705223
NM_001271.4(CHD2):c.596G>C (p.Arg199Pro) rs367550855
NM_001271.4(CHD2):c.59C>T (p.Ser20Leu) rs1057524801
NM_001271.4(CHD2):c.615A>G (p.Gln205=)
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.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.642T>C (p.Asp214=) rs2053325593
NM_001271.4(CHD2):c.648A>G (p.Glu216=)
NM_001271.4(CHD2):c.669T>G (p.Arg223=)
NM_001271.4(CHD2):c.66C>T (p.His22=) rs2141745833
NM_001271.4(CHD2):c.678G>A (p.Ala226=)
NM_001271.4(CHD2):c.678G>T (p.Ala226=)
NM_001271.4(CHD2):c.692+10A>G rs370469675
NM_001271.4(CHD2):c.692+16G>A rs2141778590
NM_001271.4(CHD2):c.692+20T>G
NM_001271.4(CHD2):c.692+8G>A
NM_001271.4(CHD2):c.693-10C>T rs374771910
NM_001271.4(CHD2):c.708T>C (p.Asp236=)
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.777T>C (p.Asn259=)
NM_001271.4(CHD2):c.813G>A (p.Leu271=) rs907174346
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.849A>T (p.Val283=)
NM_001271.4(CHD2):c.855G>C (p.Ala285=) rs138796857
NM_001271.4(CHD2):c.930G>A (p.Lys310=) rs1318106648
NM_001271.4(CHD2):c.948C>T (p.Tyr316=)
NM_001271.4(CHD2):c.951C>T (p.Ile317=)
NM_001271.4(CHD2):c.978C>G (p.Ser326=) rs2141787594
NM_001271.4(CHD2):c.981A>G (p.Leu327=)
NM_001271.4(CHD2):c.99A>G (p.Ser33=)

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