ClinVar Miner

List of variants reported as uncertain significance for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1125
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 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.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.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_003042.4(SLC6A1):c.1302C>G (p.Ile434Met) rs200670508 0.00003
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=) rs372085480 0.00003
NM_004408.4(DNM1):c.812G>A (p.Arg271His) rs201656136 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_003042.4(SLC6A1):c.769C>T (p.Arg257Cys) rs752750805 0.00002
NM_004408.4(DNM1):c.293G>A (p.Arg98His) rs748195071 0.00002
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu) rs146211149 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.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.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.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
NM_003042.4(SLC6A1):c.1191+3del rs1486885212 0.00001
NM_003042.4(SLC6A1):c.1255C>T (p.Arg419Cys) rs910130675 0.00001
NM_003042.4(SLC6A1):c.1426G>A (p.Gly476Ser) rs1328806521 0.00001
NM_003042.4(SLC6A1):c.1530C>T (p.Gly510=) rs199832552 0.00001
NM_003042.4(SLC6A1):c.1664T>C (p.Met555Thr) rs755011081 0.00001
NM_003042.4(SLC6A1):c.1696-3C>T rs763356899 0.00001
NM_003042.4(SLC6A1):c.1748G>T (p.Gly583Val) rs1274193602 0.00001
NM_003042.4(SLC6A1):c.238+5G>T rs747465142 0.00001
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn) rs751108300 0.00001
NM_003042.4(SLC6A1):c.55G>A (p.Glu19Lys) rs1490096672 0.00001
NM_003042.4(SLC6A1):c.582-3C>T rs368174761 0.00001
NM_003042.4(SLC6A1):c.589A>G (p.Met197Val) rs1031299891 0.00001
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg) rs1697439559 0.00001
NM_003042.4(SLC6A1):c.714+5G>A rs770987659 0.00001
NM_003042.4(SLC6A1):c.797A>G (p.Glu266Gly) rs1027128426 0.00001
NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser) rs1395387100 0.00001
NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe) rs1271404941 0.00001
NM_003042.4(SLC6A1):c.946G>A (p.Val316Ile) rs1409813316 0.00001
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) rs1404767209 0.00001
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met) rs750618124 0.00001
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu) rs1373361613 0.00001
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys) rs769485700 0.00001
NM_004408.4(DNM1):c.1545+6T>C rs368249222 0.00001
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg) rs1333859821 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys) rs1414107946 0.00001
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu) rs745835138 0.00001
NM_004408.4(DNM1):c.2423C>T (p.Ala808Val) rs1474835177 0.00001
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu) rs1353174747 0.00001
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser) rs1131692001 0.00001
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile) rs1006999214 0.00001
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn) rs1229779896 0.00001
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly) rs1206732749 0.00001
NM_004408.4(DNM1):c.358A>G (p.Ile120Val) rs1057520197 0.00001
NM_004408.4(DNM1):c.384C>T (p.His128=) rs535527521 0.00001
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu) rs780514615 0.00001
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys) rs1485891906 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr) rs766504829 0.00001
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu) rs1431736054 0.00001
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys) rs752917058 0.00001
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln) rs1321080189 0.00001
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp) rs1214581005 0.00001
NC_000003.11:g.(?_11058898)_(11064174_?)dup
NC_000003.11:g.(?_11058898)_(11078652_?)dup
NC_000003.11:g.(?_11075305)_(11078652_?)dup
NC_000003.12:g.(?_11025429)_(11036986_?)dup
NC_000009.11:g.(?_129376729)_(131016993_?)del
NC_000009.11:g.(?_130928476)_(131004634_?)dup
NC_000009.11:g.(?_130965750)_(131016993_?)dup
NC_000009.11:g.(?_131016913)_(131016993_?)del
NC_000009.12:g.(?_128203451)_(128203651_?)dup
NC_000009.12:g.(?_128234001)_(128234127_?)del
NC_000009.12:g.(?_128242212)_(128247506_?)del
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_001271.4(CHD2):c.1003C>A (p.Leu335Ile) rs369773756
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
NM_001271.4(CHD2):c.1037A>G (p.Asp346Gly)
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.1057G>C (p.Gly353Arg)
NM_001271.4(CHD2):c.1091A>T (p.Asn364Ile) rs143043614
NM_001271.4(CHD2):c.1096C>A (p.Gln366Lys)
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala) rs1596397712
NM_001271.4(CHD2):c.1147G>A (p.Val383Ile)
NM_001271.4(CHD2):c.115A>G (p.Ser39Gly)
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.1322T>C (p.Ile441Thr)
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.1366A>G (p.Arg456Gly)
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.1381C>G (p.Leu461Val)
NM_001271.4(CHD2):c.1388A>C (p.Gln463Pro)
NM_001271.4(CHD2):c.1397G>A (p.Arg466Gln)
NM_001271.4(CHD2):c.140G>A (p.Ser47Asn)
NM_001271.4(CHD2):c.1436G>C (p.Gly479Ala)
NM_001271.4(CHD2):c.146A>G (p.His49Arg)
NM_001271.4(CHD2):c.1500C>T (p.Cys500=)
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.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.1679A>T (p.Asn560Ile)
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>A (p.Ser582Tyr)
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.1810A>G (p.Thr604Ala)
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.188A>G (p.Gln63Arg)
NM_001271.4(CHD2):c.190T>A (p.Ser64Thr) rs2141746050
NM_001271.4(CHD2):c.1916A>G (p.Asn639Ser)
NM_001271.4(CHD2):c.1943C>G (p.Pro648Arg)
NM_001271.4(CHD2):c.1949A>G (p.Gln650Arg)
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.1994C>A (p.Pro665Gln) rs773901289
NM_001271.4(CHD2):c.2000+4A>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.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.2179C>G (p.Gln727Glu)
NM_001271.4(CHD2):c.217T>G (p.Ser73Ala)
NM_001271.4(CHD2):c.2180A>G (p.Gln727Arg) rs2141830697
NM_001271.4(CHD2):c.2190-15_2190-7del
NM_001271.4(CHD2):c.2214G>C (p.Lys738Asn)
NM_001271.4(CHD2):c.2240G>A (p.Ser747Asn)
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.2291A>G (p.His764Arg)
NM_001271.4(CHD2):c.2292C>A (p.His764Gln) rs2141835739
NM_001271.4(CHD2):c.230C>T (p.Pro77Leu)
NM_001271.4(CHD2):c.2326A>G (p.Arg776Gly)
NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro) rs2053846412
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.2463T>G (p.Asp821Glu)
NM_001271.4(CHD2):c.2464A>G (p.Ile822Val)
NM_001271.4(CHD2):c.2466C>G (p.Ile822Met)
NM_001271.4(CHD2):c.247A>C (p.Lys83Gln)
NM_001271.4(CHD2):c.2491C>T (p.His831Tyr)
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.2577+4del
NM_001271.4(CHD2):c.2577+5A>G
NM_001271.4(CHD2):c.257C>T (p.Pro86Leu)
NM_001271.4(CHD2):c.2583C>G (p.Phe861Leu) rs2141843170
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.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+3C>G
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.2783G>A (p.Arg928Gln)
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.2842C>T (p.Arg948Trp)
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.2894A>T (p.Lys965Ile) rs2141846369
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile) rs2053970198
NM_001271.4(CHD2):c.2930A>G (p.Glu977Gly)
NM_001271.4(CHD2):c.2932G>T (p.Asp978Tyr)
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)
NM_001271.4(CHD2):c.2973+6T>C
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.2999G>A (p.Arg1000Gln) rs777710376
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.3115C>T (p.Pro1039Ser)
NM_001271.4(CHD2):c.3142C>A (p.Pro1048Thr)
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.3229A>G (p.Thr1077Ala)
NM_001271.4(CHD2):c.3237+5T>G rs1015228436
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.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.3382G>T (p.Val1128Leu)
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.3427T>G (p.Tyr1143Asp)
NM_001271.4(CHD2):c.3455+4_3455+5del rs2054119330
NM_001271.4(CHD2):c.3456-3C>T
NM_001271.4(CHD2):c.3466A>G (p.Ile1156Val)
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.3503C>T (p.Ala1168Val)
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.3565G>A (p.Glu1189Lys)
NM_001271.4(CHD2):c.3569A>C (p.Glu1190Ala)
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.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.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.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.3817A>G (p.Ile1273Val)
NM_001271.4(CHD2):c.3820T>C (p.Tyr1274His)
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.3843G>C (p.Trp1281Cys)
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.3890T>C (p.Leu1297Pro)
NM_001271.4(CHD2):c.3893C>A (p.Pro1298Gln)
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.391G>A (p.Gly131Arg)
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.3968A>G (p.Lys1323Arg)
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.4010C>A (p.Ala1337Asp)
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.4054G>C (p.Val1352Leu)
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.4079G>A (p.Gly1360Glu) rs1567159136
NM_001271.4(CHD2):c.407G>A (p.Ser136Asn)
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.4139A>G (p.Asp1380Gly)
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.4173A>T (p.Lys1391Asn)
NM_001271.4(CHD2):c.4176GAA[2] (p.Lys1395del)
NM_001271.4(CHD2):c.4184A>G (p.Lys1395Arg)
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.4232A>T (p.Lys1411Ile)
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.4237G>C (p.Gly1413Arg)
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>T (p.Gly1430Val)
NM_001271.4(CHD2):c.428G>A (p.Arg143Lys) rs2053117542
NM_001271.4(CHD2):c.4304C>T (p.Ser1435Leu)
NM_001271.4(CHD2):c.4306A>G (p.Ser1436Gly) rs889423529
NM_001271.4(CHD2):c.4307G>A (p.Ser1436Asn)
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.443+6T>A
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.4496T>C (p.Leu1499Pro)
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro) rs1060503522
NM_001271.4(CHD2):c.44T>G (p.Leu15Arg)
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.463C>A (p.Pro155Thr)
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg) rs1428758251
NM_001271.4(CHD2):c.4661T>C (p.Met1554Thr)
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.4720G>T (p.Gly1574Trp)
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.4751C>T (p.Ser1584Leu)
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.4828G>A (p.Ala1610Thr)
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.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.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.491C>T (p.Thr164Ile)
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.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.4A>T (p.Met2Leu)
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr) rs142534503
NM_001271.4(CHD2):c.5014G>C (p.Asp1672His)
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.5076C>A (p.Asn1692Lys)
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>T (p.Arg1707Ter)
NM_001271.4(CHD2):c.5124C>A (p.Asp1708Glu)
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.5141A>T (p.Asp1714Val)
NM_001271.4(CHD2):c.5143T>G (p.Tyr1715Asp)
NM_001271.4(CHD2):c.5148T>G (p.Tyr1716Ter) rs773497328
NM_001271.4(CHD2):c.5149G>A (p.Asp1717Asn)
NM_001271.4(CHD2):c.5153+3A>T
NM_001271.4(CHD2):c.5154G>A (p.Arg1718=) rs768370702
NM_001271.4(CHD2):c.5185G>A (p.Asp1729Asn)
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001271.4(CHD2):c.5209C>T (p.His1737Tyr)
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter) rs1596463906
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.5239C>T (p.His1747Tyr)
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.526A>G (p.Lys176Glu)
NM_001271.4(CHD2):c.5272C>T (p.Pro1758Ser)
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.5295C>G (p.Phe1765Leu)
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.5336C>A (p.Pro1779Gln)
NM_001271.4(CHD2):c.5344C>G (p.Pro1782Ala)
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.5371C>G (p.Pro1791Ala) rs1273588349
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.5404C>A (p.Pro1802Thr)
NM_001271.4(CHD2):c.5411A>G (p.Asp1804Gly)
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>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.655A>C (p.Lys219Gln)
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+5G>A
NM_001271.4(CHD2):c.692+5G>C
NM_001271.4(CHD2):c.692G>A (p.Ser231Asn) rs1262732938
NM_001271.4(CHD2):c.698A>G (p.Lys233Arg)
NM_001271.4(CHD2):c.6G>A (p.Met2Ile)
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.842C>G (p.Thr281Ser)
NM_001271.4(CHD2):c.847G>C (p.Val283Leu)
NM_001271.4(CHD2):c.854C>G (p.Ala285Gly)
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.885C>G (p.Asp295Glu)
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.915C>G (p.Ile305Met)
NM_001271.4(CHD2):c.942G>T (p.Trp314Cys)
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro) rs138279266
NM_001271.4(CHD2):c.998A>T (p.Lys333Met)
NM_003042.4(SLC6A1):c.1013T>A (p.Ile338Asn)
NM_003042.4(SLC6A1):c.1033A>G (p.Met345Val)
NM_003042.4(SLC6A1):c.1034T>C (p.Met345Thr) rs1697627975
NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)
NM_003042.4(SLC6A1):c.1066G>A (p.Val356Met) rs1697630365
NM_003042.4(SLC6A1):c.1077A>G (p.Ser359=)
NM_003042.4(SLC6A1):c.1078+4A>G
NM_003042.4(SLC6A1):c.1081C>T (p.Pro361Ser)
NM_003042.4(SLC6A1):c.1091C>T (p.Ala364Val)
NM_003042.4(SLC6A1):c.1096C>A (p.Leu366Met)
NM_003042.4(SLC6A1):c.1106C>G (p.Pro369Arg)
NM_003042.4(SLC6A1):c.1106C>T (p.Pro369Leu) rs2124930745
NM_003042.4(SLC6A1):c.1112C>T (p.Ala371Val)
NM_003042.4(SLC6A1):c.1135C>T (p.Pro379Ser)
NM_003042.4(SLC6A1):c.1144G>C (p.Ala382Pro)
NM_003042.4(SLC6A1):c.1147A>G (p.Ile383Val) rs1697751144
NM_003042.4(SLC6A1):c.1149C>G (p.Ile383Met)
NM_003042.4(SLC6A1):c.1150C>G (p.Leu384Val)
NM_003042.4(SLC6A1):c.1173G>A (p.Met391Ile)
NM_003042.4(SLC6A1):c.1178G>A (p.Gly393Asp) rs2124930941
NM_003042.4(SLC6A1):c.1187G>A (p.Ser396Asn) rs2124930953
NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)
NM_003042.4(SLC6A1):c.1191+3G>A
NM_003042.4(SLC6A1):c.1192-5T>G
NM_003042.4(SLC6A1):c.1192T>C (p.Phe398Leu)
NM_003042.4(SLC6A1):c.1229A>T (p.Asp410Val)
NM_003042.4(SLC6A1):c.1256G>T (p.Arg419Leu) rs941588071
NM_003042.4(SLC6A1):c.1288A>G (p.Ile430Val)
NM_003042.4(SLC6A1):c.1304G>A (p.Gly435Asp) rs2124932138
NM_003042.4(SLC6A1):c.1304G>T (p.Gly435Val)
NM_003042.4(SLC6A1):c.131G>C (p.Arg44Pro) rs794726859
NM_003042.4(SLC6A1):c.1324G>A (p.Gly442Arg)
NM_003042.4(SLC6A1):c.1325G>A (p.Gly442Glu)
NM_003042.4(SLC6A1):c.1345C>T (p.Leu449Phe)
NM_003042.4(SLC6A1):c.1357T>C (p.Tyr453His)
NM_003042.4(SLC6A1):c.1363G>A (p.Ala455Thr)
NM_003042.4(SLC6A1):c.1376G>C (p.Ser459Thr)
NM_003042.4(SLC6A1):c.1402T>C (p.Cys468Arg) rs1559636673
NM_003042.4(SLC6A1):c.1426+3_1426+6del rs1553691139
NM_003042.4(SLC6A1):c.1427-9A>G rs1698019472
NM_003042.4(SLC6A1):c.1427G>A (p.Gly476Asp) rs1698020197
NM_003042.4(SLC6A1):c.1438T>C (p.Phe480Leu) rs758351251
NM_003042.4(SLC6A1):c.1439T>C (p.Phe480Ser)
NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)
NM_003042.4(SLC6A1):c.1453C>G (p.Gln485Glu)
NM_003042.4(SLC6A1):c.1454A>G (p.Gln485Arg) rs1359645826
NM_003042.4(SLC6A1):c.1458G>C (p.Glu486Asp)
NM_003042.4(SLC6A1):c.1461G>A (p.Met487Ile) rs1698021866
NM_003042.4(SLC6A1):c.1461_1462insCAG (p.Met487_Val488insGln) rs1574922559
NM_003042.4(SLC6A1):c.1462G>A (p.Val488Ile)
NM_003042.4(SLC6A1):c.1475C>T (p.Pro492Leu)
NM_003042.4(SLC6A1):c.1496G>A (p.Cys499Tyr) rs1574922621
NM_003042.4(SLC6A1):c.1498T>C (p.Trp500Arg)
NM_003042.4(SLC6A1):c.1504T>C (p.Phe502Leu) rs1029475140
NM_003042.4(SLC6A1):c.1507T>C (p.Phe503Leu)
NM_003042.4(SLC6A1):c.1513C>G (p.Pro505Ala) rs1698023649
NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)
NM_003042.4(SLC6A1):c.1525G>A (p.Ala509Thr) rs2124942675
NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)
NM_003042.4(SLC6A1):c.1528-7T>A rs754449950
NM_003042.4(SLC6A1):c.154G>T (p.Asp52Tyr) rs1574891085
NM_003042.4(SLC6A1):c.1557G>T (p.Met519Ile)
NM_003042.4(SLC6A1):c.1573_1574del (p.Gly525fs)
NM_003042.4(SLC6A1):c.1578C>G (p.Asn526Lys)
NM_003042.4(SLC6A1):c.1594T>C (p.Trp532Arg) rs2124944497
NM_003042.4(SLC6A1):c.1604G>T (p.Gly535Val)
NM_003042.4(SLC6A1):c.1610G>C (p.Gly537Ala)
NM_003042.4(SLC6A1):c.1635G>A (p.Met545Ile) rs2124944561
NM_003042.4(SLC6A1):c.1640T>G (p.Leu547Arg) rs1559640513
NM_003042.4(SLC6A1):c.1640del (p.Leu547fs) rs1698068785
NM_003042.4(SLC6A1):c.1648G>C (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1655T>A (p.Met552Lys) rs1368412515
NM_003042.4(SLC6A1):c.1658C>A (p.Ala553Asp) rs1559640572
NM_003042.4(SLC6A1):c.165G>A (p.Met55Ile)
NM_003042.4(SLC6A1):c.1665G>A (p.Met555Ile)
NM_003042.4(SLC6A1):c.1669C>A (p.Leu557Ile)
NM_003042.4(SLC6A1):c.1681G>A (p.Gly561Ser) rs1574925115
NM_003042.4(SLC6A1):c.1695+3A>G rs1559640624
NM_003042.4(SLC6A1):c.1696C>T (p.Arg566Cys)
NM_003042.4(SLC6A1):c.169T>G (p.Cys57Gly) rs1697196424
NM_003042.4(SLC6A1):c.170G>A (p.Cys57Tyr) rs2124905489
NM_003042.4(SLC6A1):c.170G>T (p.Cys57Phe)
NM_003042.4(SLC6A1):c.1710G>T (p.Met570Ile)
NM_003042.4(SLC6A1):c.1712T>C (p.Val571Ala)
NM_003042.4(SLC6A1):c.1723G>A (p.Glu575Lys)
NM_003042.4(SLC6A1):c.1738C>G (p.Pro580Ala) rs747243516
NM_003042.4(SLC6A1):c.1753G>C (p.Glu585Gln) rs1698165983
NM_003042.4(SLC6A1):c.1777A>C (p.Thr593Pro) rs1698167143
NM_003042.4(SLC6A1):c.1781G>A (p.Ser594Asn)
NM_003042.4(SLC6A1):c.1789G>A (p.Ala597Thr)
NM_003042.4(SLC6A1):c.1790C>T (p.Ala597Val)
NM_003042.4(SLC6A1):c.179A>G (p.Tyr60Cys)
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser) rs1057523845
NM_003042.4(SLC6A1):c.194G>T (p.Gly65Val) rs1697197329
NM_003042.4(SLC6A1):c.207G>C (p.Arg69Ser)
NM_003042.4(SLC6A1):c.215A>G (p.Tyr72Cys)
NM_003042.4(SLC6A1):c.220T>C (p.Cys74Arg)
NM_003042.4(SLC6A1):c.236G>A (p.Gly79Glu)
NM_003042.4(SLC6A1):c.237G>A (p.Gly79=) rs1392190073
NM_003042.4(SLC6A1):c.238+5G>A
NM_003042.4(SLC6A1):c.242C>A (p.Ala81Asp) rs2124906663
NM_003042.4(SLC6A1):c.250A>T (p.Ile84Phe)
NM_003042.4(SLC6A1):c.252C>G (p.Ile84Met) rs1697220075
NM_003042.4(SLC6A1):c.289C>A (p.Leu97Ile)
NM_003042.4(SLC6A1):c.292T>G (p.Phe98Val) rs2124906828
NM_003042.4(SLC6A1):c.299T>C (p.Leu100Pro) rs2124906844
NM_003042.4(SLC6A1):c.305G>T (p.Cys102Phe) rs1553688027
NM_003042.4(SLC6A1):c.30C>G (p.Asp10Glu)
NM_003042.4(SLC6A1):c.313G>T (p.Gly105Cys) rs144322561
NM_003042.4(SLC6A1):c.314G>A (p.Gly105Asp) rs1697222986
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_003042.4(SLC6A1):c.332G>T (p.Gly111Val) rs1574892457
NM_003042.4(SLC6A1):c.349A>C (p.Lys117Gln)
NM_003042.4(SLC6A1):c.358C>T (p.Pro120Ser)
NM_003042.4(SLC6A1):c.361A>G (p.Met121Val) rs2124907057
NM_003042.4(SLC6A1):c.37A>G (p.Ile13Val) rs1553687808
NM_003042.4(SLC6A1):c.37A>T (p.Ile13Phe) rs1553687808
NM_003042.4(SLC6A1):c.386C>T (p.Ala129Val) rs1697262028
NM_003042.4(SLC6A1):c.395T>C (p.Leu132Pro) rs2124908640
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys) rs2124908722
NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys) rs2124908813
NM_003042.4(SLC6A1):c.452T>C (p.Leu151Pro)
NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg) rs1697264679
NM_003042.4(SLC6A1):c.469A>G (p.Thr157Ala) rs2124908883
NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)
NM_003042.4(SLC6A1):c.470C>T (p.Thr157Met)
NM_003042.4(SLC6A1):c.471+5G>A rs2124908923
NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn) rs748779390
NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)
NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)
NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)
NM_003042.4(SLC6A1):c.521T>C (p.Phe174Ser)
NM_003042.4(SLC6A1):c.542A>G (p.Asn181Ser)
NM_003042.4(SLC6A1):c.548C>T (p.Thr183Ile)
NM_003042.4(SLC6A1):c.54C>T (p.Ser18=) rs1697188624
NM_003042.4(SLC6A1):c.553A>G (p.Met185Val) rs1697341413
NM_003042.4(SLC6A1):c.557C>T (p.Thr186Ile)
NM_003042.4(SLC6A1):c.576C>A (p.Phe192Leu) rs1697342927
NM_003042.4(SLC6A1):c.578G>T (p.Trp193Leu) rs1697343079
NM_003042.4(SLC6A1):c.581+3G>A rs1442190993
NM_003042.4(SLC6A1):c.581+3G>C rs1442190993
NM_003042.4(SLC6A1):c.593A>C (p.His198Pro)
NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)
NM_003042.4(SLC6A1):c.607G>A (p.Gly203Arg)
NM_003042.4(SLC6A1):c.623G>A (p.Gly208Asp)
NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met) rs1396036517
NM_003042.4(SLC6A1):c.658_663del (p.Ile220_Ala221del)
NM_003042.4(SLC6A1):c.661G>T (p.Ala221Ser)
NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)
NM_003042.4(SLC6A1):c.715-4C>A
NM_003042.4(SLC6A1):c.715G>A (p.Val239Met) rs2124924012
NM_003042.4(SLC6A1):c.719T>C (p.Val240Ala) rs1184399068
NM_003042.4(SLC6A1):c.724T>A (p.Phe242Ile)
NM_003042.4(SLC6A1):c.740C>T (p.Pro247Leu) rs1057524158
NM_003042.4(SLC6A1):c.743A>G (p.Tyr248Cys)
NM_003042.4(SLC6A1):c.743A>T (p.Tyr248Phe)
NM_003042.4(SLC6A1):c.767T>C (p.Phe256Ser) rs1559629753
NM_003042.4(SLC6A1):c.773G>A (p.Gly258Glu)
NM_003042.4(SLC6A1):c.781C>G (p.Leu261Val)
NM_003042.4(SLC6A1):c.799G>A (p.Gly267Ser) rs2124924313
NM_003042.4(SLC6A1):c.803T>C (p.Ile268Thr)
NM_003042.4(SLC6A1):c.805C>T (p.Leu269Phe) rs2124924355
NM_003042.4(SLC6A1):c.808T>C (p.Phe270Leu)
NM_003042.4(SLC6A1):c.814A>G (p.Ile272Val) rs910919772
NM_003042.4(SLC6A1):c.821C>G (p.Pro274Arg) rs2124924416
NM_003042.4(SLC6A1):c.830G>T (p.Arg277Leu)
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys) rs1697587984
NM_003042.4(SLC6A1):c.848A>C (p.Glu283Ala)
NM_003042.4(SLC6A1):c.849G>C (p.Glu283Asp)
NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu) rs1559630133
NM_003042.4(SLC6A1):c.853T>C (p.Trp285Arg) rs1559630143
NM_003042.4(SLC6A1):c.856C>G (p.Leu286Val)
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
NM_003042.4(SLC6A1):c.890G>T (p.Gly297Val) rs1697598818
NM_003042.4(SLC6A1):c.904T>A (p.Ser302Thr) rs1574907293
NM_003042.4(SLC6A1):c.925T>A (p.Tyr309Asn)
NM_003042.4(SLC6A1):c.930C>A (p.Asn310Lys) rs1697600999
NM_003042.4(SLC6A1):c.939C>A (p.His313Gln)
NM_003042.4(SLC6A1):c.943A>G (p.Asn315Asp) rs768276892
NM_003042.4(SLC6A1):c.967G>T (p.Val323Phe) rs1403165900
NM_003042.4(SLC6A1):c.968T>A (p.Val323Asp)
NM_003042.4(SLC6A1):c.983C>T (p.Ser328Leu) rs779431997
NM_003042.4(SLC6A1):c.985T>A (p.Cys329Ser)
NM_003042.4(SLC6A1):c.988A>C (p.Thr330Pro)
NM_003042.4(SLC6A1):c.990_991delinsAG (p.Ser331Gly) rs1697624889
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn) rs148695604
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
NM_004408.4(DNM1):c.1091G>A (p.Arg364Gln)
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln) rs1428107171
NM_004408.4(DNM1):c.1180A>C (p.Asn394His) rs1835103161
NM_004408.4(DNM1):c.1196+5G>A rs1835103921
NM_004408.4(DNM1):c.1196+6T>A
NM_004408.4(DNM1):c.1197-10G>A
NM_004408.4(DNM1):c.1197-7C>A rs41306488
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu) rs866836375
NM_004408.4(DNM1):c.1276A>G (p.Lys426Glu)
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
NM_004408.4(DNM1):c.1307T>G (p.Ile436Ser)
NM_004408.4(DNM1):c.1336-7T>G rs550764968
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His) rs1835857400
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp) rs368427334
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu) rs750296552
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp) rs1835858946
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser) rs759483040
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
NM_004408.4(DNM1):c.1422+5del
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
NM_004408.4(DNM1):c.1457T>C (p.Met486Thr)
NM_004408.4(DNM1):c.1493+20A>G
NM_004408.4(DNM1):c.1493+3G>C
NM_004408.4(DNM1):c.1493+7G>A
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del) rs763633863
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser) rs2131061694
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu) rs867314420
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
NM_004408.4(DNM1):c.161+5_161+6delinsTT
NM_004408.4(DNM1):c.161+9_161+10delinsTT
NM_004408.4(DNM1):c.162-11A>G
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser) rs2131262599
NM_004408.4(DNM1):c.1652C>T (p.Ser551Phe)
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu) rs2131283540
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
NM_004408.4(DNM1):c.1721A>G (p.Asp574Gly)
NM_004408.4(DNM1):c.1723G>A (p.Val575Met) rs748647924
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
NM_004408.4(DNM1):c.1781+4C>A
NM_004408.4(DNM1):c.1781+5C>T rs1836821115
NM_004408.4(DNM1):c.1782-3C>T
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile) rs1588449769
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) rs1588449811
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004408.4(DNM1):c.1873G>A (p.Val625Met)
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile) rs1836896799
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
NM_004408.4(DNM1):c.1906-3C>T
NM_004408.4(DNM1):c.1912G>A (p.Glu638Lys)
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del) rs748362979
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp) rs763245663
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
NM_004408.4(DNM1):c.2028C>G (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
NM_004408.4(DNM1):c.2034_2051del (p.Arg678_Thr684delinsSer)
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
NM_004408.4(DNM1):c.2076+5G>A rs1829321597
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
NM_004408.4(DNM1):c.2128G>C (p.Asp710His) rs2131297334
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
NM_004408.4(DNM1):c.2156C>T (p.Ala719Val) rs1432815882
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly) rs1588457823
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln) rs1829428293
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys) rs1829432262
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg) rs754280238
NM_004408.4(DNM1):c.2255C>T (p.Thr752Met)
NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)
NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)
NM_004408.4(DNM1):c.2318+3dup
NM_004408.4(DNM1):c.2327C>A (p.Thr776Lys) rs1490577876
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
NM_004408.4(DNM1):c.2350C>G (p.Arg784Gly)
NM_004408.4(DNM1):c.2351G>A (p.Arg784Gln)
NM_004408.4(DNM1):c.2354C>T (p.Ala785Val)
NM_004408.4(DNM1):c.2356C>A (p.Pro786Thr) rs2131299453
NM_004408.4(DNM1):c.2359G>A (p.Ala787Thr) rs1286706539
NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)
NM_004408.4(DNM1):c.2389G>A (p.Gly797Ser) rs1259228242
NM_004408.4(DNM1):c.2390G>T (p.Gly797Val) rs1486970211
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu) rs1829472592
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu) rs1295591580
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu) rs901408697
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)
NM_004408.4(DNM1):c.2501C>T (p.Ser834Leu)
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
NM_004408.4(DNM1):c.2534+1dup
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn) rs1829479381
NM_004408.4(DNM1):c.2535-1G>A
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro) rs758567328
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup) rs1564358652
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu) rs187315526
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val) rs2131314418
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu) rs776104715
NM_004408.4(DNM1):c.352G>A (p.Val118Met) rs1834758362
NM_004408.4(DNM1):c.368G>A (p.Arg123His)
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
NM_004408.4(DNM1):c.38T>C (p.Val13Ala) rs969698049
NM_004408.4(DNM1):c.402G>A (p.Leu134=) rs777767122
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
NM_004408.4(DNM1):c.427G>C (p.Val143Leu) rs1834788549
NM_004408.4(DNM1):c.428T>A (p.Val143Asp)
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly) rs1320569379
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln) rs2131152872
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
NM_004408.4(DNM1):c.557C>T (p.Ala186Val)
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
NM_004408.4(DNM1):c.588G>A (p.Gln196=) rs1834794265
NM_004408.4(DNM1):c.589+4G>A
NM_004408.4(DNM1):c.589+4G>T rs751407306
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr) rs1588355906
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
NM_004408.4(DNM1):c.67A>G (p.Ile23Val)
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys) rs1444380018
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly) rs1834851998
NM_004408.4(DNM1):c.688+3A>G
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp) rs1834860828
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
NM_004408.4(DNM1):c.703G>A (p.Val235Met) rs2131157918
NM_004408.4(DNM1):c.70G>A (p.Gly24Ser)
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
NM_004408.4(DNM1):c.774C>A (p.Phe258Leu)
NM_004408.4(DNM1):c.786T>A (p.His262Gln) rs1376656660
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser) rs138053929
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys) rs1834865373
NM_004408.4(DNM1):c.821C>T (p.Thr274Met) rs1284660372
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
NM_004408.4(DNM1):c.849G>A (p.Gln283=)
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn) rs1564332436
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly) rs1835069996
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys) rs892194903
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
NM_004408.4(DNM1):c.959A>G (p.Asp320Gly)
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu) rs1833619327
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004408.4(DNM1):c.992+3G>A
NM_004408.4(DNM1):c.993-13_993-11del
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)

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