ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy 94

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 633
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001271.4(CHD2):c.551+5A>C rs376498798 0.00016
NM_001271.4(CHD2):c.1297A>G (p.Ile433Val) rs368327967 0.00011
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076 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.5351T>C (p.Val1784Ala) rs776419537 0.00005
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys) rs542243995 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg) rs373051961 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.5363G>A (p.Arg1788His) rs140365508 0.00004
NM_001271.4(CHD2):c.294+5C>T rs777934535 0.00003
NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro) rs760099829 0.00003
NM_001271.4(CHD2):c.4063C>A (p.Leu1355Met) rs748470273 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.881G>T (p.Gly294Val) rs771390521 0.00003
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.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.5017C>T (p.His1673Tyr) rs190569275 0.00002
NM_001271.4(CHD2):c.5054G>A (p.Arg1685His) rs749360780 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.5232G>A (p.Met1744Ile) rs761319790 0.00002
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727 0.00002
NM_001271.4(CHD2):c.5341C>G (p.His1781Asp) rs771637309 0.00002
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153 0.00002
NM_001271.4(CHD2):c.569G>A (p.Arg190His) rs776934265 0.00002
NM_001271.4(CHD2):c.595C>T (p.Arg199Cys) rs764705223 0.00002
NM_001271.4(CHD2):c.683A>G (p.Lys228Arg) rs764468460 0.00002
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu) rs1064794584 0.00001
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu) rs1249403093 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.1225A>G (p.Asn409Asp) rs531251618 0.00001
NM_001271.4(CHD2):c.12T>G (p.Asn4Lys) rs750955957 0.00001
NM_001271.4(CHD2):c.1357A>T (p.Ile453Phe) rs144393676 0.00001
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001271.4(CHD2):c.1582C>G (p.His528Asp) rs776364124 0.00001
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518 0.00001
NM_001271.4(CHD2):c.1718C>T (p.Thr573Met) rs780171086 0.00001
NM_001271.4(CHD2):c.185G>A (p.Ser62Asn) rs886041165 0.00001
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr) rs757715547 0.00001
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu) rs773901289 0.00001
NM_001271.4(CHD2):c.2230A>G (p.Thr744Ala) rs1596418984 0.00001
NM_001271.4(CHD2):c.2352+4G>C rs1173333743 0.00001
NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys) rs1567148426 0.00001
NM_001271.4(CHD2):c.2507G>A (p.Arg836His) rs1429832116 0.00001
NM_001271.4(CHD2):c.2568T>A (p.Asp856Glu) rs770126779 0.00001
NM_001271.4(CHD2):c.2846C>T (p.Thr949Met) rs1064794542 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.3355C>T (p.Arg1119Cys) rs370737593 0.00001
NM_001271.4(CHD2):c.3359C>T (p.Pro1120Leu) rs2054032013 0.00001
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu) rs1295966448 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.3536A>G (p.Asn1179Ser) rs561920953 0.00001
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly) rs759269259 0.00001
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr) rs561941628 0.00001
NM_001271.4(CHD2):c.3592G>A (p.Glu1198Lys) rs757981280 0.00001
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys) rs559187972 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.3803G>A (p.Arg1268His) rs1410226460 0.00001
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu) rs1273405855 0.00001
NM_001271.4(CHD2):c.4072G>A (p.Glu1358Lys) rs766747626 0.00001
NM_001271.4(CHD2):c.4137+5G>A rs762703910 0.00001
NM_001271.4(CHD2):c.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.4228G>T (p.Asp1410Tyr) rs775901148 0.00001
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly) rs1304514223 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.4481A>G (p.Asn1494Ser) rs913833972 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.4678T>A (p.Ser1560Thr) rs747637652 0.00001
NM_001271.4(CHD2):c.4714G>A (p.Val1572Met) rs755267457 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.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.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.5008T>C (p.Tyr1670His) rs775504391 0.00001
NM_001271.4(CHD2):c.5009A>G (p.Tyr1670Cys) rs897082911 0.00001
NM_001271.4(CHD2):c.5051A>T (p.His1684Leu) rs770784804 0.00001
NM_001271.4(CHD2):c.5059G>A (p.Gly1687Arg) rs149696735 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.5153G>A (p.Arg1718Lys) rs2054517021 0.00001
NM_001271.4(CHD2):c.5154-3C>A rs924030126 0.00001
NM_001271.4(CHD2):c.5197C>G (p.Pro1733Ala) rs1461476360 0.00001
NM_001271.4(CHD2):c.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.5267A>T (p.Gln1756Leu) rs1045351387 0.00001
NM_001271.4(CHD2):c.5287C>T (p.Arg1763Cys) rs1486760399 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.5414A>G (p.His1805Arg) rs1287619700 0.00001
NM_001271.4(CHD2):c.5476C>T (p.Arg1826Trp) rs759398974 0.00001
NM_001271.4(CHD2):c.547A>G (p.Arg183Gly) rs1264879568 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.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.663G>C (p.Gln221His) rs776917899 0.00001
NM_001271.4(CHD2):c.668G>A (p.Arg223His) rs1041959719 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.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.857T>C (p.Ile286Thr) rs530919126 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.98C>T (p.Ser33Leu) rs377012056 0.00001
NC_000015.9:g.(?_93444468)_(93583743_?)dup
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NC_000015.9:g.(?_93510535)_(93567935_?)dup
NC_000015.9:g.(?_93522345)_(93567935_?)dup
NM_000744.7(CHRNA4):c.1175C>T (p.Pro392Leu) rs2123471262
NM_001271.4(CHD2):c.1003C>A (p.Leu335Ile) rs369773756
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
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+4T>C
NM_001271.4(CHD2):c.1052+5A>G
NM_001271.4(CHD2):c.1091A>T (p.Asn364Ile) rs143043614
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala) rs1596397712
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.1208G>A (p.Arg403Gln)
NM_001271.4(CHD2):c.1219C>A (p.Pro407Thr) rs2141795454
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.1282G>C (p.Glu428Gln)
NM_001271.4(CHD2):c.1291G>C (p.Ala431Pro)
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.1357A>G (p.Ile453Val) rs144393676
NM_001271.4(CHD2):c.1372T>C (p.Cys458Arg) rs1769067223
NM_001271.4(CHD2):c.1377+4T>C rs2053464708
NM_001271.4(CHD2):c.1377+6G>A rs2053464769
NM_001271.4(CHD2):c.140G>A (p.Ser47Asn)
NM_001271.4(CHD2):c.1436G>C (p.Gly479Ala)
NM_001271.4(CHD2):c.1502+4G>A
NM_001271.4(CHD2):c.1508A>C (p.Asn503Thr)
NM_001271.4(CHD2):c.151A>G (p.Ser51Gly)
NM_001271.4(CHD2):c.1535G>C (p.Gly512Ala) rs2053579153
NM_001271.4(CHD2):c.154G>A (p.Glu52Lys)
NM_001271.4(CHD2):c.1558A>G (p.Ile520Val) rs773793367
NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)
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.1645C>A (p.Gln549Lys) rs1392359380
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.1681_1692del (p.Val561_Tyr564del) rs2141811654
NM_001271.4(CHD2):c.1702C>G (p.Leu568Val)
NM_001271.4(CHD2):c.1720-3T>C rs759231634
NM_001271.4(CHD2):c.1720A>C (p.Ile574Leu) rs2141814804
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.1757G>A (p.Arg586Lys) rs2141814855
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.1805A>G (p.Asp602Gly) rs1567140845
NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)
NM_001271.4(CHD2):c.1838T>C (p.Phe613Ser)
NM_001271.4(CHD2):c.1874A>G (p.Asp625Gly) rs2141816546
NM_001271.4(CHD2):c.1916A>G (p.Asn639Ser)
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.1961A>G (p.Lys654Arg)
NM_001271.4(CHD2):c.1978C>A (p.Leu660Met) rs2141816626
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser) rs768407397
NM_001271.4(CHD2):c.2000+4A>G
NM_001271.4(CHD2):c.2001-4del
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.2035G>A (p.Gly679Arg) rs867188529
NM_001271.4(CHD2):c.2045G>T (p.Arg682Ile)
NM_001271.4(CHD2):c.204C>G (p.Ser68Arg) rs150919373
NM_001271.4(CHD2):c.2062A>C (p.Ser688Arg)
NM_001271.4(CHD2):c.2076G>A (p.Val692=)
NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe) rs2053779861
NM_001271.4(CHD2):c.20A>G (p.Lys7Arg) rs2052524601
NM_001271.4(CHD2):c.2125C>T (p.Leu709Phe) rs2141830674
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+8C>T rs1486555733
NM_001271.4(CHD2):c.2214G>C (p.Lys738Asn)
NM_001271.4(CHD2):c.2257A>G (p.Asn753Asp) rs2141835724
NM_001271.4(CHD2):c.2279A>C (p.Lys760Thr) rs2141835731
NM_001271.4(CHD2):c.2292C>A (p.His764Gln) rs2141835739
NM_001271.4(CHD2):c.229C>G (p.Pro77Ala) rs1228076921
NM_001271.4(CHD2):c.230C>T (p.Pro77Leu)
NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro) rs2053846412
NM_001271.4(CHD2):c.2345T>G (p.Ile782Ser)
NM_001271.4(CHD2):c.2353-16T>C
NM_001271.4(CHD2):c.2353-3C>T rs558236184
NM_001271.4(CHD2):c.235C>G (p.Leu79Val) rs1555437429
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.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.2411G>A (p.Arg804Gln)
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.2464A>G (p.Ile822Val)
NM_001271.4(CHD2):c.247A>C (p.Lys83Gln)
NM_001271.4(CHD2):c.2497C>T (p.Pro833Ser) rs2053851835
NM_001271.4(CHD2):c.2510T>C (p.Leu837Pro) rs2141839131
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.2583C>G (p.Phe861Leu) rs2141843170
NM_001271.4(CHD2):c.2595C>T (p.Leu865=)
NM_001271.4(CHD2):c.2597C>T (p.Ser866Leu) rs1085308000
NM_001271.4(CHD2):c.2598G>T (p.Ser866=)
NM_001271.4(CHD2):c.2617G>A (p.Gly873Arg)
NM_001271.4(CHD2):c.2667G>C (p.Trp889Cys) rs2141843220
NM_001271.4(CHD2):c.2671C>T (p.Pro891Ser)
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
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+5G>T
NM_001271.4(CHD2):c.2749A>G (p.Thr917Ala) rs766507274
NM_001271.4(CHD2):c.274C>T (p.Arg92Trp)
NM_001271.4(CHD2):c.2793G>T (p.Lys931Asn)
NM_001271.4(CHD2):c.2810A>C (p.His937Pro) rs2053946385
NM_001271.4(CHD2):c.2825G>C (p.Arg942Pro) rs2141844247
NM_001271.4(CHD2):c.2827A>G (p.Met943Val)
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.2869A>G (p.Arg957Gly)
NM_001271.4(CHD2):c.2871_2876+15dup
NM_001271.4(CHD2):c.2877C>T (p.Asn959=)
NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr)
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)
NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile) rs2141846369
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile) rs2053970198
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001271.4(CHD2):c.2974-3T>C rs778558788
NM_001271.4(CHD2):c.2977A>G (p.Met993Val) rs2053978485
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.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.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3113G>A (p.Arg1038His)
NM_001271.4(CHD2):c.3150A>C (p.Glu1050Asp) rs1261637857
NM_001271.4(CHD2):c.3151C>A (p.Gln1051Lys)
NM_001271.4(CHD2):c.3158A>T (p.Lys1053Ile)
NM_001271.4(CHD2):c.3237+5T>G rs1015228436
NM_001271.4(CHD2):c.3238-5C>G rs1555443468
NM_001271.4(CHD2):c.3247A>G (p.Asn1083Asp)
NM_001271.4(CHD2):c.3264C>A (p.Asp1088Glu)
NM_001271.4(CHD2):c.3275A>G (p.Lys1092Arg)
NM_001271.4(CHD2):c.3278G>A (p.Arg1093Lys) rs2054031377
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly) rs2054031451
NM_001271.4(CHD2):c.3338A>G (p.Lys1113Arg)
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.3382G>A (p.Val1128Met) rs776091604
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.341G>T (p.Arg114Leu)
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg) rs1471418780
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=) rs2054119126
NM_001271.4(CHD2):c.3455+4_3455+5del rs2054119330
NM_001271.4(CHD2):c.3456-3C>T
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.3487G>C (p.Val1163Leu) rs1555444210
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.3526C>A (p.Leu1176Met) rs1555444216
NM_001271.4(CHD2):c.3542G>A (p.Cys1181Tyr) rs2141861661
NM_001271.4(CHD2):c.3565G>A (p.Glu1189Lys)
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+6C>T
NM_001271.4(CHD2):c.359C>T (p.Ser120Leu)
NM_001271.4(CHD2):c.3602G>A (p.Gly1201Glu) rs2054196855
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.3640G>A (p.Gly1214Arg) rs1596446980
NM_001271.4(CHD2):c.3646C>A (p.Gln1216Lys)
NM_001271.4(CHD2):c.3646C>G (p.Gln1216Glu)
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.3691A>G (p.Met1231Val) rs1408881628
NM_001271.4(CHD2):c.3697C>T (p.His1233Tyr) rs2054197453
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
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.3733A>C (p.Lys1245Gln) rs2054197954
NM_001271.4(CHD2):c.3734+3G>T
NM_001271.4(CHD2):c.3735-6C>G rs1235843668
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.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.3805C>G (p.Leu1269Val) rs1308763946
NM_001271.4(CHD2):c.3817A>G (p.Ile1273Val)
NM_001271.4(CHD2):c.382-6C>A rs756487303
NM_001271.4(CHD2):c.3821A>T (p.Tyr1274Phe)
NM_001271.4(CHD2):c.3829G>A (p.Gly1277Ser) rs1596447174
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.3885+4A>G rs1555444612
NM_001271.4(CHD2):c.3886-18C>T
NM_001271.4(CHD2):c.3902C>T (p.Thr1301Ile)
NM_001271.4(CHD2):c.3906T>A (p.Asp1302Glu) rs2141868872
NM_001271.4(CHD2):c.3913C>G (p.Pro1305Ala)
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu) rs2054212404
NM_001271.4(CHD2):c.3927G>T (p.Gln1309His) rs938005096
NM_001271.4(CHD2):c.392G>A (p.Gly131Glu)
NM_001271.4(CHD2):c.3938G>T (p.Arg1313Leu)
NM_001271.4(CHD2):c.3941C>T (p.Ala1314Val)
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.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.3997G>A (p.Gly1333Ser)
NM_001271.4(CHD2):c.4008+5G>A rs2141868973
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.4051A>G (p.Lys1351Glu)
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>T (p.Glu1358Asp)
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu) rs1567159136
NM_001271.4(CHD2):c.4084G>C (p.Glu1362Gln)
NM_001271.4(CHD2):c.4096C>T (p.Pro1366Ser)
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala) rs2052525047
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.4133T>G (p.Val1378Gly) rs2054242633
NM_001271.4(CHD2):c.4137+11G>C
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.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4176GAA[2] (p.Lys1395del)
NM_001271.4(CHD2):c.4189A>T (p.Asn1397Tyr)
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.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.4258T>G (p.Ser1420Ala) rs773012231
NM_001271.4(CHD2):c.4259C>T (p.Ser1420Leu)
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
NM_001271.4(CHD2):c.4278+5T>A rs202174434
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>A (p.Gly1430Asp)
NM_001271.4(CHD2):c.4289G>T (p.Gly1430Val)
NM_001271.4(CHD2):c.428G>A (p.Arg143Lys) rs2053117542
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu) rs1567160905
NM_001271.4(CHD2):c.4304C>T (p.Ser1435Leu)
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.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.4413+3A>G rs2054298217
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.4489G>A (p.Glu1497Lys)
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro) rs1060503522
NM_001271.4(CHD2):c.44T>G (p.Leu15Arg)
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp) rs776113114
NM_001271.4(CHD2):c.4507C>T (p.Arg1503Trp) rs764680752
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser) rs2141881607
NM_001271.4(CHD2):c.4513T>C (p.Cys1505Arg)
NM_001271.4(CHD2):c.4546T>A (p.Cys1516Ser)
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr) rs1183987736
NM_001271.4(CHD2):c.4567C>G (p.Gln1523Glu) rs372786805
NM_001271.4(CHD2):c.4573C>G (p.His1525Asp) rs2141881675
NM_001271.4(CHD2):c.4574A>G (p.His1525Arg) rs2141881676
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
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.4598T>G (p.Leu1533Arg) rs2054404153
NM_001271.4(CHD2):c.4612T>G (p.Ser1538Ala) rs2141885429
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.4637G>A (p.Arg1546Gln) rs1430565994
NM_001271.4(CHD2):c.463C>A (p.Pro155Thr)
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg) rs1428758251
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.4724G>T (p.Gly1575Val)
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.4763G>A (p.Arg1588Gln)
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.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.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.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.4892A>C (p.His1631Pro) rs2054438338
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>T (p.Asn1634Ile) rs761860129
NM_001271.4(CHD2):c.4905A>G (p.Ala1635=) rs2054438546
NM_001271.4(CHD2):c.4907A>G (p.Asp1636Gly)
NM_001271.4(CHD2):c.4909C>G (p.Arg1637Gly)
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.4932A>T (p.Arg1644Ser) rs1567166830
NM_001271.4(CHD2):c.4934A>G (p.Lys1645Arg) rs751850387
NM_001271.4(CHD2):c.4940A>G (p.Asn1647Ser)
NM_001271.4(CHD2):c.4944TGG[2] (p.Gly1651del) rs988975454
NM_001271.4(CHD2):c.4955A>G (p.Asn1652Ser)
NM_001271.4(CHD2):c.4956C>G (p.Asn1652Lys) rs200979907
NM_001271.4(CHD2):c.4960A>T (p.Asn1654Tyr) rs1437890850
NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr) rs2054514484
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
NM_001271.4(CHD2):c.4966C>T (p.Pro1656Ser)
NM_001271.4(CHD2):c.4973G>A (p.Gly1658Glu)
NM_001271.4(CHD2):c.4987C>T (p.His1663Tyr) rs746965265
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr) rs142534503
NM_001271.4(CHD2):c.5017C>A (p.His1673Asn) rs190569275
NM_001271.4(CHD2):c.5026G>A (p.Gly1676Arg) rs2141895266
NM_001271.4(CHD2):c.503G>C (p.Ser168Thr)
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.5053C>T (p.Arg1685Cys)
NM_001271.4(CHD2):c.5057C>G (p.Ser1686Cys)
NM_001271.4(CHD2):c.5066A>G (p.Tyr1689Cys) rs773408940
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.5110A>T (p.Ser1704Cys)
NM_001271.4(CHD2):c.5111G>A (p.Ser1704Asn) rs2054516537
NM_001271.4(CHD2):c.5119C>G (p.Arg1707Gly)
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu) rs1172858416
NM_001271.4(CHD2):c.5135A>T (p.His1712Leu)
NM_001271.4(CHD2):c.5136_5137del (p.His1712fs) rs2054516766
NM_001271.4(CHD2):c.5148T>G (p.Tyr1716Ter) rs773497328
NM_001271.4(CHD2):c.5154G>A (p.Arg1718=) rs768370702
NM_001271.4(CHD2):c.5155C>T (p.His1719Tyr)
NM_001271.4(CHD2):c.5185G>A (p.Asp1729Asn)
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter) rs1596463906
NM_001271.4(CHD2):c.522A>C (p.Lys174Asn)
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.5233T>C (p.Ser1745Pro)
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs) rs2054569319
NM_001271.4(CHD2):c.5234C>G (p.Ser1745Cys) rs2141761439
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.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.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.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.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+3G>A rs2141773591
NM_001271.4(CHD2):c.552-5T>C rs2141778314
NM_001271.4(CHD2):c.593A>G (p.Gln198Arg) rs927044414
NM_001271.4(CHD2):c.59C>G (p.Ser20Trp) 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.616G>C (p.Asp206His) rs2141778412
NM_001271.4(CHD2):c.617A>G (p.Asp206Gly) rs2141778416
NM_001271.4(CHD2):c.62+3A>G
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.645C>G (p.Asp215Glu)
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+5G>A
NM_001271.4(CHD2):c.692G>A (p.Ser231Asn) rs1262732938
NM_001271.4(CHD2):c.698A>G (p.Lys233Arg)
NM_001271.4(CHD2):c.721G>C (p.Asp241His) rs2141785066
NM_001271.4(CHD2):c.733C>A (p.Leu245Ile)
NM_001271.4(CHD2):c.757G>A (p.Val253Ile) rs2053388088
NM_001271.4(CHD2):c.761A>T (p.Asp254Val)
NM_001271.4(CHD2):c.787A>G (p.Ile263Val)
NM_001271.4(CHD2):c.810A>C (p.Arg270Ser) rs2053388439
NM_001271.4(CHD2):c.81A>C (p.Glu27Asp) rs2053017198
NM_001271.4(CHD2):c.827C>T (p.Ala276Val)
NM_001271.4(CHD2):c.847G>C (p.Val283Leu)
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.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.942G>T (p.Trp314Cys)
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro) rs138279266
NM_001271.4(CHD2):c.955A>G (p.Ser319Gly)
NM_001271.4(CHD2):c.998A>T (p.Lys333Met)

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