ClinVar Miner

List of variants reported as likely benign 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: 1481
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2973+4A>G rs202244266 0.00093
NM_003042.4(SLC6A1):c.801C>T (p.Gly267=) rs150519659 0.00058
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_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071 0.00039
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_003042.4(SLC6A1):c.1275T>G (p.Ala425=) rs33999096 0.00029
NM_004408.4(DNM1):c.414C>T (p.Pro138=) rs141748215 0.00026
NM_004408.4(DNM1):c.2582C>A (p.Pro861His) rs187315526 0.00022
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met) rs770993927 0.00021
NM_003042.4(SLC6A1):c.1044C>T (p.Val348=) rs144666962 0.00021
NM_003042.4(SLC6A1):c.480G>T (p.Pro160=) rs116620331 0.00021
NM_004408.4(DNM1):c.235+8C>T rs370555560 0.00021
NM_004408.4(DNM1):c.1386C>T (p.Thr462=) rs372666180 0.00020
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser) rs150040014 0.00019
NM_001271.4(CHD2):c.2728-16G>A rs111544874 0.00018
NM_001271.4(CHD2):c.2877-15A>G rs374737708 0.00017
NM_001271.4(CHD2):c.4009-4C>T rs376566234 0.00017
NM_001271.4(CHD2):c.1377+12G>A rs200005446 0.00016
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001271.4(CHD2):c.4593-19T>C rs377557426 0.00016
NM_003042.4(SLC6A1):c.726T>C (p.Phe242=) rs765861626 0.00016
NM_004408.4(DNM1):c.1335+8G>A rs374438127 0.00016
NM_004408.4(DNM1):c.2430G>A (p.Gly810=) rs1007155416 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_003042.4(SLC6A1):c.1092G>A (p.Ala364=) rs199998696 0.00014
NM_003042.4(SLC6A1):c.1191+8_1191+9insA rs761247510 0.00012
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_003042.4(SLC6A1):c.1041T>C (p.His347=) rs371611997 0.00011
NM_003042.4(SLC6A1):c.987C>T (p.Cys329=) rs141488919 0.00011
NM_003042.4(SLC6A1):c.837G>C (p.Leu279=) rs141874821 0.00010
NM_001271.4(CHD2):c.1116G>A (p.Glu372=) rs147482358 0.00009
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg) rs753058189 0.00009
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr) rs754174173 0.00009
NM_001271.4(CHD2):c.753A>G (p.Glu251=) rs368486032 0.00009
NM_003042.4(SLC6A1):c.1008C>T (p.Phe336=) rs144261418 0.00009
NM_004408.4(DNM1):c.1200G>A (p.Thr400=) rs373198034 0.00009
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile) rs771062230 0.00009
NM_004408.4(DNM1):c.2364G>A (p.Val788=) rs904300233 0.00009
NM_004408.4(DNM1):c.797G>A (p.Arg266His) rs200136679 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_003042.4(SLC6A1):c.1071G>A (p.Ala357=) rs1139553 0.00008
NM_004408.4(DNM1):c.117C>T (p.Gly39=) rs142432944 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.984G>A (p.Gln328=) rs944181807 0.00007
NM_003042.4(SLC6A1):c.1335T>C (p.Tyr445=) rs758040188 0.00007
NM_004408.4(DNM1):c.1422+18C>T rs747813685 0.00007
NM_004408.4(DNM1):c.1772C>T (p.Thr591Met) rs772239774 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_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln) rs771439149 0.00006
NM_003042.4(SLC6A1):c.371-9C>T rs368461369 0.00006
NM_003042.4(SLC6A1):c.891G>A (p.Gly297=) rs151039956 0.00006
NM_004408.4(DNM1):c.1350G>T (p.Pro450=) rs147897973 0.00006
NM_004408.4(DNM1):c.725T>C (p.Ile242Thr) rs138357499 0.00006
NM_004408.4(DNM1):c.849+7G>A rs779667787 0.00006
NM_004408.4(DNM1):c.992+13C>A rs762733307 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_003042.4(SLC6A1):c.1032C>T (p.Phe344=) rs370079283 0.00005
NM_003042.4(SLC6A1):c.258T>C (p.Tyr86=) rs765030652 0.00005
NM_003042.4(SLC6A1):c.381T>C (p.Leu127=) rs753023286 0.00005
NM_003042.4(SLC6A1):c.715-16C>T rs761013218 0.00005
NM_004408.4(DNM1):c.1422+7C>A rs761674210 0.00005
NM_004408.4(DNM1):c.1893+12G>A rs376700785 0.00005
NM_004408.4(DNM1):c.2226C>T (p.Ile742=) rs760982623 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.3012G>A (p.Thr1004=) rs775751349 0.00004
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln) rs143503275 0.00004
NM_001271.4(CHD2):c.4032T>G (p.Pro1344=) rs547927047 0.00004
NM_001271.4(CHD2):c.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_003042.4(SLC6A1):c.1317C>T (p.Ile439=) rs918740589 0.00004
NM_003042.4(SLC6A1):c.1425C>T (p.Tyr475=) rs201643896 0.00004
NM_003042.4(SLC6A1):c.1527+16G>A rs189002557 0.00004
NM_003042.4(SLC6A1):c.1528-18C>T rs754211094 0.00004
NM_003042.4(SLC6A1):c.1696-4A>G rs773416770 0.00004
NM_003042.4(SLC6A1):c.318G>A (p.Gln106=) rs370359077 0.00004
NM_003042.4(SLC6A1):c.384G>A (p.Ala128=) rs2272404 0.00004
NM_003042.4(SLC6A1):c.45C>T (p.Thr15=) rs761463345 0.00004
NM_003042.4(SLC6A1):c.492C>T (p.Cys164=) rs151263329 0.00004
NM_003042.4(SLC6A1):c.582-7T>G rs201191000 0.00004
NM_003042.4(SLC6A1):c.850-4A>G rs780311335 0.00004
NM_003042.4(SLC6A1):c.888C>T (p.Tyr296=) rs144034291 0.00004
NM_004408.4(DNM1):c.1422+9C>T rs760832551 0.00004
NM_004408.4(DNM1):c.1493+16G>C rs746358072 0.00004
NM_004408.4(DNM1):c.2238C>T (p.Asn746=) rs1057521629 0.00004
NM_004408.4(DNM1):c.2535-20G>C rs753705712 0.00004
NM_004408.4(DNM1):c.386-19C>G rs772469890 0.00004
NM_004408.4(DNM1):c.589+10C>T rs987855255 0.00004
NM_004408.4(DNM1):c.589+15G>A rs535456711 0.00004
NM_004408.4(DNM1):c.850-18C>T rs763158060 0.00004
NM_004408.4(DNM1):c.850-8A>G rs750891102 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_003042.4(SLC6A1):c.1191+11C>T rs764670075 0.00003
NM_003042.4(SLC6A1):c.1191+8C>T rs1259297873 0.00003
NM_003042.4(SLC6A1):c.1224G>A (p.Leu408=) rs1422692085 0.00003
NM_003042.4(SLC6A1):c.1516A>G (p.Ile506Val) rs529455113 0.00003
NM_003042.4(SLC6A1):c.1722C>T (p.Ser574=) rs145387062 0.00003
NM_003042.4(SLC6A1):c.1731C>T (p.Ile577=) rs778960516 0.00003
NM_003042.4(SLC6A1):c.660C>T (p.Ile220=) rs760984163 0.00003
NM_003042.4(SLC6A1):c.779C>T (p.Thr260Met) rs777446246 0.00003
NM_003042.4(SLC6A1):c.849+9C>T rs370642265 0.00003
NM_003042.4(SLC6A1):c.966C>T (p.Ile322=) rs757627416 0.00003
NM_004408.4(DNM1):c.1176C>T (p.Ile392=) rs760314213 0.00003
NM_004408.4(DNM1):c.1197-16C>T rs769415906 0.00003
NM_004408.4(DNM1):c.1335+16G>A rs768442528 0.00003
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val) rs992608425 0.00003
NM_004408.4(DNM1):c.1558-16C>T rs768903530 0.00003
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg) rs760956595 0.00003
NM_004408.4(DNM1):c.1672-15T>C rs1184633809 0.00003
NM_004408.4(DNM1):c.1722C>T (p.Asp574=) rs1404706727 0.00003
NM_004408.4(DNM1):c.1893+9C>A rs769121301 0.00003
NM_004408.4(DNM1):c.1906-20C>T rs1284100485 0.00003
NM_004408.4(DNM1):c.1917C>T (p.Thr639=) rs528464319 0.00003
NM_004408.4(DNM1):c.2322G>T (p.Ser774=) rs566718787 0.00003
NM_004408.4(DNM1):c.2427G>T (p.Leu809=) rs897409469 0.00003
NM_004408.4(DNM1):c.387G>A (p.Val129=) rs758325864 0.00003
NM_004408.4(DNM1):c.678C>G (p.Pro226=) rs150094408 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.2974-16G>C rs990532473 0.00002
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=) rs778897064 0.00002
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro) rs751507887 0.00002
NM_001271.4(CHD2):c.4098T>G (p.Pro1366=) rs1478793992 0.00002
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln) rs762950368 0.00002
NM_001271.4(CHD2):c.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_003042.4(SLC6A1):c.1023C>T (p.Ile341=) rs775636186 0.00002
NM_003042.4(SLC6A1):c.126C>T (p.Pro42=) rs142759144 0.00002
NM_003042.4(SLC6A1):c.129C>A (p.Asp43Glu) rs371207948 0.00002
NM_003042.4(SLC6A1):c.1392G>A (p.Val464=) rs770686295 0.00002
NM_003042.4(SLC6A1):c.378C>T (p.Gly126=) rs767614653 0.00002
NM_003042.4(SLC6A1):c.424G>A (p.Val142Ile) rs746202904 0.00002
NM_003042.4(SLC6A1):c.514C>T (p.Arg172Cys) rs778818301 0.00002
NM_003042.4(SLC6A1):c.715-7C>T rs762522852 0.00002
NM_003042.4(SLC6A1):c.783G>A (p.Leu261=) rs779237172 0.00002
NM_003042.4(SLC6A1):c.786C>T (p.Pro262=) rs373297474 0.00002
NM_003042.4(SLC6A1):c.807C>T (p.Leu269=) rs769006572 0.00002
NM_003042.4(SLC6A1):c.99G>A (p.Lys33=) rs767066259 0.00002
NM_004408.4(DNM1):c.1161G>A (p.Glu387=) rs998519750 0.00002
NM_004408.4(DNM1):c.1197-11C>T rs764285452 0.00002
NM_004408.4(DNM1):c.1197-15G>A rs534677463 0.00002
NM_004408.4(DNM1):c.1380G>C (p.Val460=) rs749564973 0.00002
NM_004408.4(DNM1):c.141G>T (p.Val47=) rs1269297218 0.00002
NM_004408.4(DNM1):c.1423-14A>G rs765225886 0.00002
NM_004408.4(DNM1):c.1558-17G>T rs749222845 0.00002
NM_004408.4(DNM1):c.161+11C>G rs1483670500 0.00002
NM_004408.4(DNM1):c.162-17C>T rs1057524327 0.00002
NM_004408.4(DNM1):c.1755C>T (p.Ile585=) rs759079310 0.00002
NM_004408.4(DNM1):c.1860C>T (p.Phe620=) rs1050799692 0.00002
NM_004408.4(DNM1):c.2133G>A (p.Gln711=) rs1277551348 0.00002
NM_004408.4(DNM1):c.2586C>T (p.Phe862=) rs560349998 0.00002
NM_004408.4(DNM1):c.689-8G>T rs760856978 0.00002
NM_004408.4(DNM1):c.702G>A (p.Val234=) rs754094661 0.00002
NM_004408.4(DNM1):c.850-17C>G rs764505046 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.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.2901G>A (p.Glu967=) rs755608958 0.00001
NM_001271.4(CHD2):c.2907A>G (p.Thr969=) rs2053970223 0.00001
NM_001271.4(CHD2):c.295-17G>A rs757490818 0.00001
NM_001271.4(CHD2):c.295-18G>C rs747188522 0.00001
NM_001271.4(CHD2):c.3006T>C (p.Ala1002=) rs186862897 0.00001
NM_001271.4(CHD2):c.3066+8G>A rs376968734 0.00001
NM_001271.4(CHD2):c.3067-16G>A rs768858302 0.00001
NM_001271.4(CHD2):c.3067-6T>C rs901346678 0.00001
NM_001271.4(CHD2):c.30G>A (p.Glu10=) rs754725429 0.00001
NM_001271.4(CHD2):c.3177G>A (p.Glu1059=) rs764787401 0.00001
NM_001271.4(CHD2):c.3180G>A (p.Arg1060=) rs1005206801 0.00001
NM_001271.4(CHD2):c.3190C>T (p.Leu1064=) rs752339272 0.00001
NM_001271.4(CHD2):c.3214C>A (p.Arg1072=) rs767106034 0.00001
NM_001271.4(CHD2):c.3238-13C>T rs368489730 0.00001
NM_001271.4(CHD2):c.3354G>C (p.Gly1118=) rs747316316 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.3672A>G (p.Gln1224=) rs768542034 0.00001
NM_001271.4(CHD2):c.3690G>A (p.Glu1230=) rs113077918 0.00001
NM_001271.4(CHD2):c.3786G>A (p.Gly1262=) rs1440327194 0.00001
NM_001271.4(CHD2):c.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_003042.4(SLC6A1):c.1056C>G (p.Ser352=) rs767184689 0.00001
NM_003042.4(SLC6A1):c.1065T>C (p.Asp355=) rs967912210 0.00001
NM_003042.4(SLC6A1):c.1083C>T (p.Pro361=) rs768964697 0.00001
NM_003042.4(SLC6A1):c.1096C>T (p.Leu366=) rs1410013974 0.00001
NM_003042.4(SLC6A1):c.1137A>G (p.Pro379=) rs774667916 0.00001
NM_003042.4(SLC6A1):c.114G>A (p.Ala38=) rs139224269 0.00001
NM_003042.4(SLC6A1):c.1191+7G>A rs753558292 0.00001
NM_003042.4(SLC6A1):c.1249C>T (p.Arg417Cys) rs774371133 0.00001
NM_003042.4(SLC6A1):c.12C>T (p.Asn4=) rs978516736 0.00001
NM_003042.4(SLC6A1):c.1323+17C>G rs1697783020 0.00001
NM_003042.4(SLC6A1):c.1324-14T>A rs1228458713 0.00001
NM_003042.4(SLC6A1):c.1324-9A>G rs758526997 0.00001
NM_003042.4(SLC6A1):c.1383G>C (p.Leu461=) rs1160002015 0.00001
NM_003042.4(SLC6A1):c.1426+13C>G rs776382632 0.00001
NM_003042.4(SLC6A1):c.1426+7A>G rs1697896460 0.00001
NM_003042.4(SLC6A1):c.1527+11G>A rs1006629615 0.00001
NM_003042.4(SLC6A1):c.1528-5T>C rs748037660 0.00001
NM_003042.4(SLC6A1):c.1560G>A (p.Thr520=) rs780977371 0.00001
NM_003042.4(SLC6A1):c.1624C>T (p.Leu542=) rs746102316 0.00001
NM_003042.4(SLC6A1):c.1683C>T (p.Gly561=) rs777068422 0.00001
NM_003042.4(SLC6A1):c.1696-7C>T rs770154222 0.00001
NM_003042.4(SLC6A1):c.1767G>A (p.Ala589=) rs748298652 0.00001
NM_003042.4(SLC6A1):c.1785G>A (p.Lys595=) rs536318043 0.00001
NM_003042.4(SLC6A1):c.1791C>G (p.Ala597=) rs202231185 0.00001
NM_003042.4(SLC6A1):c.186C>T (p.Ile62=) rs1465313059 0.00001
NM_003042.4(SLC6A1):c.222C>T (p.Cys74=) rs139045747 0.00001
NM_003042.4(SLC6A1):c.239-13T>C rs763764950 0.00001
NM_003042.4(SLC6A1):c.271A>G (p.Ile91Val) rs758250115 0.00001
NM_003042.4(SLC6A1):c.291C>A (p.Leu97=) rs1424265759 0.00001
NM_003042.4(SLC6A1):c.333G>A (p.Gly111=) rs749594860 0.00001
NM_003042.4(SLC6A1):c.351G>A (p.Lys117=) rs148698856 0.00001
NM_003042.4(SLC6A1):c.371-5C>T rs1297168513 0.00001
NM_003042.4(SLC6A1):c.371-8G>A rs774167411 0.00001
NM_003042.4(SLC6A1):c.396A>G (p.Leu132=) rs754242081 0.00001
NM_003042.4(SLC6A1):c.453G>A (p.Leu151=) rs1697264815 0.00001
NM_003042.4(SLC6A1):c.471G>A (p.Thr157=) rs780692463 0.00001
NM_003042.4(SLC6A1):c.474A>C (p.Thr158=) rs780468448 0.00001
NM_003042.4(SLC6A1):c.546T>G (p.Thr182=) rs760766783 0.00001
NM_003042.4(SLC6A1):c.583C>T (p.Arg195Cys) rs769934894 0.00001
NM_003042.4(SLC6A1):c.585C>T (p.Arg195=) rs978823137 0.00001
NM_003042.4(SLC6A1):c.603G>A (p.Thr201=) rs762985616 0.00001
NM_003042.4(SLC6A1):c.72T>C (p.Asn24=) rs774478277 0.00001
NM_003042.4(SLC6A1):c.75C>G (p.Asp25Glu) rs142007193 0.00001
NM_003042.4(SLC6A1):c.798G>A (p.Glu266=) rs1211147356 0.00001
NM_003042.4(SLC6A1):c.828C>T (p.Phe276=) rs1176975543 0.00001
NM_003042.4(SLC6A1):c.850-18T>C rs760273801 0.00001
NM_003042.4(SLC6A1):c.850-5T>C rs1398769799 0.00001
NM_003042.4(SLC6A1):c.918C>T (p.Leu306=) rs775332356 0.00001
NM_003042.4(SLC6A1):c.929A>G (p.Asn310Ser) rs896013015 0.00001
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile) rs1403165900 0.00001
NM_004408.4(DNM1):c.1011C>T (p.Ala337=) rs753714670 0.00001
NM_004408.4(DNM1):c.1053C>T (p.Ile351=) rs1420306273 0.00001
NM_004408.4(DNM1):c.1098C>T (p.Phe366=) rs532535557 0.00001
NM_004408.4(DNM1):c.1101C>T (p.His367=) rs747430397 0.00001
NM_004408.4(DNM1):c.1116C>T (p.Phe372=) rs367584321 0.00001
NM_004408.4(DNM1):c.1137T>C (p.Phe379=) rs1835101654 0.00001
NM_004408.4(DNM1):c.1146G>A (p.Lys382=) rs150617335 0.00001
NM_004408.4(DNM1):c.1155A>C (p.Arg385=) rs140703430 0.00001
NM_004408.4(DNM1):c.1196+14C>T rs372024347 0.00001
NM_004408.4(DNM1):c.1197-4T>C rs1004698189 0.00001
NM_004408.4(DNM1):c.1197-6G>A rs767877912 0.00001
NM_004408.4(DNM1):c.1262G>A (p.Arg421Gln) rs769689269 0.00001
NM_004408.4(DNM1):c.1269G>A (p.Pro423=) rs1436554330 0.00001
NM_004408.4(DNM1):c.1335+7C>T rs201230726 0.00001
NM_004408.4(DNM1):c.1336-15C>T rs764771425 0.00001
NM_004408.4(DNM1):c.1336-7T>C rs550764968 0.00001
NM_004408.4(DNM1):c.1356A>G (p.Leu452=) rs756954152 0.00001
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln) rs750296552 0.00001
NM_004408.4(DNM1):c.1359G>A (p.Arg453=) rs968662562 0.00001
NM_004408.4(DNM1):c.1409G>A (p.Arg470His) rs763830358 0.00001
NM_004408.4(DNM1):c.1422+10G>A rs375886288 0.00001
NM_004408.4(DNM1):c.1422+16C>T rs766488967 0.00001
NM_004408.4(DNM1):c.1443C>T (p.Ile481=) rs778321233 0.00001
NM_004408.4(DNM1):c.1494-10C>T rs772807242 0.00001
NM_004408.4(DNM1):c.1494-15C>T rs375232749 0.00001
NM_004408.4(DNM1):c.150T>C (p.Asn50=) rs769600214 0.00001
NM_004408.4(DNM1):c.1524G>A (p.Lys508=) rs1057523085 0.00001
NM_004408.4(DNM1):c.1558-14C>T rs971301728 0.00001
NM_004408.4(DNM1):c.1671+11G>C rs377034879 0.00001
NM_004408.4(DNM1):c.1743G>A (p.Ser581=) rs776254391 0.00001
NM_004408.4(DNM1):c.1894-5C>G rs1836928538 0.00001
NM_004408.4(DNM1):c.1932C>T (p.Ser644=) rs750934085 0.00001
NM_004408.4(DNM1):c.1956C>T (p.Asp652=) rs1564353077 0.00001
NM_004408.4(DNM1):c.199C>T (p.Arg67Cys) rs199575353 0.00001
NM_004408.4(DNM1):c.2070T>A (p.Ile690=) rs1019671226 0.00001
NM_004408.4(DNM1):c.2076+17A>G rs1361466672 0.00001
NM_004408.4(DNM1):c.2113C>T (p.Leu705=) rs752228958 0.00001
NM_004408.4(DNM1):c.2163G>A (p.Gln721=) rs146678077 0.00001
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser) rs551214260 0.00001
NM_004408.4(DNM1):c.2310C>T (p.Ala770=) rs1224582228 0.00001
NM_004408.4(DNM1):c.235+10C>T rs372579464 0.00001
NM_004408.4(DNM1):c.2361C>T (p.Ala787=) rs1041513039 0.00001
NM_004408.4(DNM1):c.2379C>T (p.Pro793=) rs1215135225 0.00001
NM_004408.4(DNM1):c.2418G>T (p.Gly806=) rs1413872976 0.00001
NM_004408.4(DNM1):c.2536C>T (p.Arg846Ter) rs752575279 0.00001
NM_004408.4(DNM1):c.354G>A (p.Val118=) rs1357577359 0.00001
NM_004408.4(DNM1):c.386-17C>T rs766023182 0.00001
NM_004408.4(DNM1):c.3G>T (p.Met1Ile) rs1401701364 0.00001
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln) rs763288862 0.00001
NM_004408.4(DNM1):c.528C>T (p.Pro176=) rs146242842 0.00001
NM_004408.4(DNM1):c.603C>T (p.Ile201=) rs1484030185 0.00001
NM_004408.4(DNM1):c.624C>T (p.Asp208=) rs1395270062 0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=) rs1043525791 0.00001
NM_004408.4(DNM1):c.720G>A (p.Lys240=) rs969868074 0.00001
NM_004408.4(DNM1):c.804G>A (p.Leu268=) rs771201307 0.00001
NM_004408.4(DNM1):c.822G>A (p.Thr274=) rs765410948 0.00001
NM_004408.4(DNM1):c.853C>T (p.Leu285=) rs546034278 0.00001
NM_004408.4(DNM1):c.882G>A (p.Pro294=) rs559572430 0.00001
NM_004408.4(DNM1):c.920T>C (p.Ile307Thr) rs1052613908 0.00001
NM_004408.4(DNM1):c.924G>A (p.Glu308=) rs1364961903 0.00001
NM_004408.4(DNM1):c.990G>T (p.Leu330=) rs761236543 0.00001
NM_004408.4(DNM1):c.992+18C>T rs1320762709 0.00001
NM_004408.4(DNM1):c.992+19C>T rs1375346310 0.00001
NC_000003.11:g.(?_11067125)_(11078652_?)dup
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+11A>C
NM_001271.4(CHD2):c.1198+12A>G
NM_001271.4(CHD2):c.1198+18T>C
NM_001271.4(CHD2):c.1198+20T>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.1199-9A>T
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.129T>C (p.Ser43=)
NM_001271.4(CHD2):c.1326C>T (p.Asp442=)
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.1401T>C (p.Phe467=)
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.1599T>C (p.Tyr533=)
NM_001271.4(CHD2):c.159G>T (p.Ser53=)
NM_001271.4(CHD2):c.1602C>T (p.Gly534=) rs2141811584
NM_001271.4(CHD2):c.1605C>T (p.Pro535=)
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.1720-15del
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.1785A>G (p.Thr595=) rs1192477751
NM_001271.4(CHD2):c.1791G>A (p.Glu597=)
NM_001271.4(CHD2):c.1809+15T>A
NM_001271.4(CHD2):c.1809+19A>G
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.1920T>C (p.His640=) rs755517341
NM_001271.4(CHD2):c.1935G>A (p.Thr645=) rs779686192
NM_001271.4(CHD2):c.1938G>T (p.Gly646=)
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+20T>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+16G>A
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.243A>G (p.Glu81=)
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+20T>C
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+11_2577+14del
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.2595C>T (p.Leu865=)
NM_001271.4(CHD2):c.2598G>A (p.Ser866=)
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.2682C>T (p.Asp894=)
NM_001271.4(CHD2):c.2694A>G (p.Gln898=)
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.2877-15A>T
NM_001271.4(CHD2):c.2877-17A>G rs764609850
NM_001271.4(CHD2):c.2877-4A>G
NM_001271.4(CHD2):c.2877-5C>T rs1248829265
NM_001271.4(CHD2):c.2922T>C (p.Phe974=)
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.295-18G>T
NM_001271.4(CHD2):c.2955G>C (p.Gly985=)
NM_001271.4(CHD2):c.2973+18_2973+23del
NM_001271.4(CHD2):c.2973+8A>T
NM_001271.4(CHD2):c.2973+9C>T rs1596431717
NM_001271.4(CHD2):c.2974-10G>A
NM_001271.4(CHD2):c.2974-4T>C
NM_001271.4(CHD2):c.2982T>C (p.Asp994=) rs372974686
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp) rs758134774
NM_001271.4(CHD2):c.3000G>A (p.Arg1000=)
NM_001271.4(CHD2):c.3021T>C (p.Asn1007=) rs2141847120
NM_001271.4(CHD2):c.3036T>C (p.Ser1012=) rs768946382
NM_001271.4(CHD2):c.3063T>C (p.Phe1021=)
NM_001271.4(CHD2):c.3066+19G>A
NM_001271.4(CHD2):c.3066+20A>G rs946119641
NM_001271.4(CHD2):c.3067-10C>G rs2141850547
NM_001271.4(CHD2):c.3078T>C (p.Phe1026=) rs2141850566
NM_001271.4(CHD2):c.3111G>A (p.Glu1037=) rs2141850590
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu) rs150268140
NM_001271.4(CHD2):c.3153A>G (p.Gln1051=) rs1312097410
NM_001271.4(CHD2):c.3154A>C (p.Arg1052=)
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.3238-11A>C
NM_001271.4(CHD2):c.3238-12G>A rs1276545339
NM_001271.4(CHD2):c.3238-13C>G
NM_001271.4(CHD2):c.3238-15C>T
NM_001271.4(CHD2):c.3238-16C>T rs2054030766
NM_001271.4(CHD2):c.3238-18T>A
NM_001271.4(CHD2):c.3238-5C>G rs1555443468
NM_001271.4(CHD2):c.3238-5C>T rs1555443468
NM_001271.4(CHD2):c.3258C>T (p.Asp1086=)
NM_001271.4(CHD2):c.3261T>C (p.Ser1087=)
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+11G>C
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.3414-19T>C
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.3552A>C (p.Ala1184=)
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.3596-14C>G
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+9A>G
NM_001271.4(CHD2):c.3735-10C>T
NM_001271.4(CHD2):c.3735-11A>C
NM_001271.4(CHD2):c.3735-18T>C
NM_001271.4(CHD2):c.3735-6C>G rs1235843668
NM_001271.4(CHD2):c.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.382-11A>C
NM_001271.4(CHD2):c.382-12C>G
NM_001271.4(CHD2):c.382-14del
NM_001271.4(CHD2):c.382-17C>T
NM_001271.4(CHD2):c.382-20T>C rs2141755276
NM_001271.4(CHD2):c.382-6C>A rs756487303
NM_001271.4(CHD2):c.382-9A>C rs1555437848
NM_001271.4(CHD2):c.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.3937C>A (p.Arg1313=)
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
NM_001271.4(CHD2):c.3958C>T (p.Leu1320=) rs2141868909
NM_001271.4(CHD2):c.4002G>A (p.Gly1334=)
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.4137+12G>T
NM_001271.4(CHD2):c.4137+13G>A
NM_001271.4(CHD2):c.4138-11T>C
NM_001271.4(CHD2):c.4138-17C>T
NM_001271.4(CHD2):c.4138-18C>T rs775111839
NM_001271.4(CHD2):c.4138-19_4138-18delinsTA rs1555444947
NM_001271.4(CHD2):c.4140T>C (p.Asp1380=)
NM_001271.4(CHD2):c.4143T>C (p.Asp1381=)
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.4279-18G>A
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.4414-18T>C
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.4500A>T (p.Glu1500Asp) rs776113114
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.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+3_4592+5dup
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+14T>C
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.4782G>A (p.Gln1594=)
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.483A>G (p.Glu161=)
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.4857C>T (p.His1619=)
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.4902T>C (p.Asn1634=)
NM_001271.4(CHD2):c.4905A>G (p.Ala1635=) rs2054438546
NM_001271.4(CHD2):c.4906+10T>C
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.4907-12C>G
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.4907-20C>T
NM_001271.4(CHD2):c.4907-7C>T
NM_001271.4(CHD2):c.4908T>C (p.Asp1636=)
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.4995T>C (p.Tyr1665=) rs1555446313
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.5028G>A (p.Gly1676=)
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.5118C>T (p.Asp1706=)
NM_001271.4(CHD2):c.5130G>A (p.Arg1710=)
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+19G>C
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.5382A>G (p.Lys1794=)
NM_001271.4(CHD2):c.5406C>T (p.Pro1802=) rs1567168673
NM_001271.4(CHD2):c.5454C>T (p.Asn1818=)
NM_001271.4(CHD2):c.5476C>A (p.Arg1826=) rs759398974
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.62+8C>T
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.72C>T (p.Ala24=)
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=)
NM_003042.4(SLC6A1):c.1000G>T (p.Ala334Ser) rs749240316
NM_003042.4(SLC6A1):c.1009G>A (p.Val337Ile)
NM_003042.4(SLC6A1):c.1050G>A (p.Lys350=)
NM_003042.4(SLC6A1):c.1050G>C (p.Lys350Asn)
NM_003042.4(SLC6A1):c.1078+15G>A
NM_003042.4(SLC6A1):c.1079-12T>G
NM_003042.4(SLC6A1):c.1079-15C>T
NM_003042.4(SLC6A1):c.1079-6G>A rs779733732
NM_003042.4(SLC6A1):c.1080C>T (p.Gly360=) rs1697747513
NM_003042.4(SLC6A1):c.1092G>C (p.Ala364=) rs199998696
NM_003042.4(SLC6A1):c.109_110delinsGC (p.Lys37Ala) rs1697191777
NM_003042.4(SLC6A1):c.1131C>A (p.Ile377=)
NM_003042.4(SLC6A1):c.1140C>T (p.Leu380=)
NM_003042.4(SLC6A1):c.114G>C (p.Ala38=) rs139224269
NM_003042.4(SLC6A1):c.1152C>T (p.Leu384=) rs759942621
NM_003042.4(SLC6A1):c.1159_1161del (p.Ser387del)
NM_003042.4(SLC6A1):c.1191+10C>A
NM_003042.4(SLC6A1):c.1191+11C>G
NM_003042.4(SLC6A1):c.1191+13C>A rs780177003
NM_003042.4(SLC6A1):c.1191+13C>T rs780177003
NM_003042.4(SLC6A1):c.1191+15C>A rs781558890
NM_003042.4(SLC6A1):c.1191+15C>G rs781558890
NM_003042.4(SLC6A1):c.1191+17C>A
NM_003042.4(SLC6A1):c.1191+17C>G rs538418973
NM_003042.4(SLC6A1):c.1191+17C>T rs538418973
NM_003042.4(SLC6A1):c.1191+9G>A rs761322748
NM_003042.4(SLC6A1):c.1191+9G>C rs761322748
NM_003042.4(SLC6A1):c.1191+9G>T rs761322748
NM_003042.4(SLC6A1):c.1191+9del
NM_003042.4(SLC6A1):c.1192-18C>A
NM_003042.4(SLC6A1):c.1192-5T>C
NM_003042.4(SLC6A1):c.1192-6del rs765936552
NM_003042.4(SLC6A1):c.1192-7C>T
NM_003042.4(SLC6A1):c.1209C>T (p.Gly403=)
NM_003042.4(SLC6A1):c.1221C>T (p.Ala407=)
NM_003042.4(SLC6A1):c.1222C>T (p.Leu408=)
NM_003042.4(SLC6A1):c.1224G>C (p.Leu408=)
NM_003042.4(SLC6A1):c.1233G>A (p.Glu411=)
NM_003042.4(SLC6A1):c.1234T>C (p.Tyr412His) rs2124931904
NM_003042.4(SLC6A1):c.1236C>T (p.Tyr412=) rs549028843
NM_003042.4(SLC6A1):c.1239C>T (p.Pro413=) rs2124931931
NM_003042.4(SLC6A1):c.1248C>A (p.Leu416=) rs1553690572
NM_003042.4(SLC6A1):c.1266C>T (p.Leu422=)
NM_003042.4(SLC6A1):c.126C>G (p.Pro42=)
NM_003042.4(SLC6A1):c.127G>A (p.Asp43Asn) rs764382700
NM_003042.4(SLC6A1):c.1297C>T (p.Leu433=)
NM_003042.4(SLC6A1):c.1302C>T (p.Ile434=) rs200670508
NM_003042.4(SLC6A1):c.1323+11T>C
NM_003042.4(SLC6A1):c.1323+18C>A
NM_003042.4(SLC6A1):c.1324-15C>T
NM_003042.4(SLC6A1):c.1324-4G>C
NM_003042.4(SLC6A1):c.1324-7C>T rs780416796
NM_003042.4(SLC6A1):c.1326G>A (p.Gly442=)
NM_003042.4(SLC6A1):c.1326G>C (p.Gly442=)
NM_003042.4(SLC6A1):c.1359C>T (p.Tyr453=)
NM_003042.4(SLC6A1):c.135C>T (p.Asp45=)
NM_003042.4(SLC6A1):c.1368T>C (p.Ser456=) rs2124936859
NM_003042.4(SLC6A1):c.137C>T (p.Thr46Met) rs762550927
NM_003042.4(SLC6A1):c.1380G>A (p.Leu460=)
NM_003042.4(SLC6A1):c.1383G>A (p.Leu461=)
NM_003042.4(SLC6A1):c.1386C>T (p.Phe462=)
NM_003042.4(SLC6A1):c.1389C>T (p.Leu463=)
NM_003042.4(SLC6A1):c.138G>C (p.Thr46=)
NM_003042.4(SLC6A1):c.138G>T (p.Thr46=)
NM_003042.4(SLC6A1):c.1390G>A (p.Val464Met)
NM_003042.4(SLC6A1):c.1391T>A (p.Val464Glu) rs1697894833
NM_003042.4(SLC6A1):c.1395C>T (p.Phe465=) rs2124936955
NM_003042.4(SLC6A1):c.1401A>G (p.Glu467=)
NM_003042.4(SLC6A1):c.1426+17C>T
NM_003042.4(SLC6A1):c.1427-10_1427-7del
NM_003042.4(SLC6A1):c.1427-11C>A
NM_003042.4(SLC6A1):c.1427-15C>T
NM_003042.4(SLC6A1):c.1427-18C>A
NM_003042.4(SLC6A1):c.1427-18C>G
NM_003042.4(SLC6A1):c.1427-4del
NM_003042.4(SLC6A1):c.1427-8T>C rs753100039
NM_003042.4(SLC6A1):c.1442A>T (p.Tyr481Phe)
NM_003042.4(SLC6A1):c.1443T>C (p.Tyr481=) rs1574922500
NM_003042.4(SLC6A1):c.144G>A (p.Lys48=)
NM_003042.4(SLC6A1):c.1470C>T (p.Ser490=)
NM_003042.4(SLC6A1):c.147C>T (p.Gly49=)
NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys) rs754493263
NM_003042.4(SLC6A1):c.1494C>T (p.Leu498=) rs2124942591
NM_003042.4(SLC6A1):c.1512A>G (p.Thr504=) rs2124942636
NM_003042.4(SLC6A1):c.1517T>C (p.Ile506Thr)
NM_003042.4(SLC6A1):c.1520T>C (p.Ile507Thr) rs1574922686
NM_003042.4(SLC6A1):c.1527+12G>T
NM_003042.4(SLC6A1):c.1527+7A>G
NM_003042.4(SLC6A1):c.1527+8C>A
NM_003042.4(SLC6A1):c.1528-14T>A
NM_003042.4(SLC6A1):c.1528-14T>C
NM_003042.4(SLC6A1):c.1528-16C>T rs1402116303
NM_003042.4(SLC6A1):c.1528-6C>T
NM_003042.4(SLC6A1):c.1528-8C>A rs1348558990
NM_003042.4(SLC6A1):c.1533G>A (p.Val511=) rs1276757037
NM_003042.4(SLC6A1):c.1560G>T (p.Thr520=)
NM_003042.4(SLC6A1):c.1563A>G (p.Pro521=)
NM_003042.4(SLC6A1):c.1578C>T (p.Asn526=) rs1698067347
NM_003042.4(SLC6A1):c.159C>T (p.Phe53=)
NM_003042.4(SLC6A1):c.1608G>A (p.Val536=)
NM_003042.4(SLC6A1):c.160C>T (p.Leu54Phe)
NM_003042.4(SLC6A1):c.162C>G (p.Leu54=) rs752627902
NM_003042.4(SLC6A1):c.162C>T (p.Leu54=)
NM_003042.4(SLC6A1):c.1644C>T (p.Ile548=) rs200481115
NM_003042.4(SLC6A1):c.1647C>G (p.Pro549=) rs2272401
NM_003042.4(SLC6A1):c.1650G>A (p.Gly550=) rs1175292635
NM_003042.4(SLC6A1):c.1652A>G (p.Tyr551Cys) rs2124944638
NM_003042.4(SLC6A1):c.1662C>T (p.Tyr554=)
NM_003042.4(SLC6A1):c.1673C>A (p.Thr558Asn)
NM_003042.4(SLC6A1):c.1686C>T (p.Ser562=) rs1698071519
NM_003042.4(SLC6A1):c.1695+13C>G
NM_003042.4(SLC6A1):c.1695+16C>T
NM_003042.4(SLC6A1):c.1696-12C>G rs773131260
NM_003042.4(SLC6A1):c.1696-12C>T
NM_003042.4(SLC6A1):c.1697G>A (p.Arg566His) rs767142926
NM_003042.4(SLC6A1):c.1698C>T (p.Arg566=)
NM_003042.4(SLC6A1):c.1705G>A (p.Val569Ile) rs1193651446
NM_003042.4(SLC6A1):c.1711G>A (p.Val571Ile)
NM_003042.4(SLC6A1):c.1717C>T (p.Pro573Ser) rs760120415
NM_003042.4(SLC6A1):c.1722C>G (p.Ser574Arg) rs145387062
NM_003042.4(SLC6A1):c.1735C>T (p.Arg579Cys)
NM_003042.4(SLC6A1):c.1736G>A (p.Arg579His)
NM_003042.4(SLC6A1):c.1740A>G (p.Pro580=)
NM_003042.4(SLC6A1):c.1746T>C (p.Asn582=) rs2124949321
NM_003042.4(SLC6A1):c.1749T>C (p.Gly583=)
NM_003042.4(SLC6A1):c.1752T>C (p.Pro584=)
NM_003042.4(SLC6A1):c.1773C>G (p.Ser591Arg) rs956462752
NM_003042.4(SLC6A1):c.1776C>T (p.Ser592=)
NM_003042.4(SLC6A1):c.1797C>A (p.Ile599=) rs1698168556
NM_003042.4(SLC6A1):c.190C>T (p.Leu64=)
NM_003042.4(SLC6A1):c.201C>T (p.Val67=) rs1574891179
NM_003042.4(SLC6A1):c.238+15G>A
NM_003042.4(SLC6A1):c.238+18G>T
NM_003042.4(SLC6A1):c.238+7G>A rs2124905739
NM_003042.4(SLC6A1):c.238+8C>T
NM_003042.4(SLC6A1):c.238+9T>C rs2124905757
NM_003042.4(SLC6A1):c.239-18T>C
NM_003042.4(SLC6A1):c.239-6C>T rs1270790611
NM_003042.4(SLC6A1):c.255C>T (p.Pro85=)
NM_003042.4(SLC6A1):c.27C>T (p.Ala9=) rs985468330
NM_003042.4(SLC6A1):c.300G>A (p.Leu100=)
NM_003042.4(SLC6A1):c.309C>T (p.Ser103=)
NM_003042.4(SLC6A1):c.323C>A (p.Thr108Asn)
NM_003042.4(SLC6A1):c.336G>T (p.Gly112=)
NM_003042.4(SLC6A1):c.342G>T (p.Gly114=)
NM_003042.4(SLC6A1):c.354G>A (p.Leu118=) rs1029839205
NM_003042.4(SLC6A1):c.354G>T (p.Leu118=) rs1029839205
NM_003042.4(SLC6A1):c.360T>C (p.Pro120=) rs776026803
NM_003042.4(SLC6A1):c.366C>T (p.Phe122=) rs1697225966
NM_003042.4(SLC6A1):c.370+15C>T
NM_003042.4(SLC6A1):c.370+16A>G
NM_003042.4(SLC6A1):c.370+17G>A
NM_003042.4(SLC6A1):c.370+18G>A
NM_003042.4(SLC6A1):c.370+18G>C
NM_003042.4(SLC6A1):c.371-16dup
NM_003042.4(SLC6A1):c.371-5C>G
NM_003042.4(SLC6A1):c.372C>T (p.Gly124=)
NM_003042.4(SLC6A1):c.417C>T (p.Tyr139=)
NM_003042.4(SLC6A1):c.423C>T (p.Ile141=)
NM_003042.4(SLC6A1):c.471+11C>A
NM_003042.4(SLC6A1):c.471+14T>A
NM_003042.4(SLC6A1):c.471+8G>T
NM_003042.4(SLC6A1):c.472-10G>T
NM_003042.4(SLC6A1):c.472-10_472-9del
NM_003042.4(SLC6A1):c.472-5T>C rs1574896904
NM_003042.4(SLC6A1):c.472-8C>T
NM_003042.4(SLC6A1):c.480G>A (p.Pro160=)
NM_003042.4(SLC6A1):c.549C>T (p.Thr183=)
NM_003042.4(SLC6A1):c.561C>T (p.Ser187=) rs1553688537
NM_003042.4(SLC6A1):c.564T>A (p.Ala188=)
NM_003042.4(SLC6A1):c.570G>A (p.Val190=)
NM_003042.4(SLC6A1):c.581+12G>T
NM_003042.4(SLC6A1):c.581+18A>C rs2124912794
NM_003042.4(SLC6A1):c.581+18_581+19del
NM_003042.4(SLC6A1):c.582-10G>C rs746794580
NM_003042.4(SLC6A1):c.582-10G>T rs746794580
NM_003042.4(SLC6A1):c.582-9_582-6del rs2124917521
NM_003042.4(SLC6A1):c.5C>A (p.Ala2Glu) rs913073947
NM_003042.4(SLC6A1):c.5C>T (p.Ala2Val)
NM_003042.4(SLC6A1):c.606C>T (p.Asp202=)
NM_003042.4(SLC6A1):c.609G>C (p.Gly203=)
NM_003042.4(SLC6A1):c.618G>A (p.Lys206=) rs761767066
NM_003042.4(SLC6A1):c.658A>G (p.Ile220Val) rs754749693
NM_003042.4(SLC6A1):c.676T>C (p.Tyr226His)
NM_003042.4(SLC6A1):c.684T>C (p.Cys228=) rs1697443650
NM_003042.4(SLC6A1):c.69C>T (p.Ala23=)
NM_003042.4(SLC6A1):c.700G>A (p.Gly234Ser) rs2124917991
NM_003042.4(SLC6A1):c.714+17C>T
NM_003042.4(SLC6A1):c.714+18A>G
NM_003042.4(SLC6A1):c.720C>T (p.Val240=) rs2124924042
NM_003042.4(SLC6A1):c.732C>T (p.Ala244=)
NM_003042.4(SLC6A1):c.735A>T (p.Thr245=)
NM_003042.4(SLC6A1):c.747C>A (p.Ile249=) rs1052037726
NM_003042.4(SLC6A1):c.751C>T (p.Leu251=)
NM_003042.4(SLC6A1):c.762G>A (p.Leu254=) rs1574906506
NM_003042.4(SLC6A1):c.784C>T (p.Pro262Ser) rs1574906592
NM_003042.4(SLC6A1):c.789G>T (p.Gly263=) rs772195247
NM_003042.4(SLC6A1):c.804C>T (p.Ile268=)
NM_003042.4(SLC6A1):c.829C>A (p.Arg277Ser) rs377383740
NM_003042.4(SLC6A1):c.831C>T (p.Arg277=)
NM_003042.4(SLC6A1):c.837G>A (p.Leu279=)
NM_003042.4(SLC6A1):c.849+10C>T rs2124924582
NM_003042.4(SLC6A1):c.849+8C>A rs1298534380
NM_003042.4(SLC6A1):c.850-19T>C
NM_003042.4(SLC6A1):c.850-7C>T
NM_003042.4(SLC6A1):c.856C>T (p.Leu286=)
NM_003042.4(SLC6A1):c.885A>C (p.Ser295=) rs563719346
NM_003042.4(SLC6A1):c.891G>C (p.Gly297=) rs151039956
NM_003042.4(SLC6A1):c.903G>C (p.Gly301=) rs756380074
NM_003042.4(SLC6A1):c.903G>T (p.Gly301=) rs756380074
NM_003042.4(SLC6A1):c.906C>A (p.Ser302=) rs1239880200
NM_003042.4(SLC6A1):c.945T>C (p.Asn315=)
NM_003042.4(SLC6A1):c.953+12_953+22del
NM_003042.4(SLC6A1):c.953+13A>C
NM_003042.4(SLC6A1):c.953+14G>T
NM_003042.4(SLC6A1):c.953+20G>A
NM_003042.4(SLC6A1):c.953+9G>A rs761823218
NM_003042.4(SLC6A1):c.954-10C>G
NM_003042.4(SLC6A1):c.954-15C>T
NM_003042.4(SLC6A1):c.954-17C>A
NM_003042.4(SLC6A1):c.954-17C>T
NM_003042.4(SLC6A1):c.954-6C>G
NM_003042.4(SLC6A1):c.954-8C>G
NM_003042.4(SLC6A1):c.954-9T>A
NM_003042.4(SLC6A1):c.961A>G (p.Ile321Val)
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu) rs1334690406
NM_003042.4(SLC6A1):c.984G>A (p.Ser328=) rs748162040
NM_003042.4(SLC6A1):c.984G>C (p.Ser328=) rs748162040
NM_003042.4(SLC6A1):c.984G>T (p.Ser328=)
NM_003042.4(SLC6A1):c.9C>A (p.Thr3=)
NM_004408.4(DNM1):c.1020T>C (p.Phe340=) rs2131173713
NM_004408.4(DNM1):c.1028G>A (p.Arg343His)
NM_004408.4(DNM1):c.1035G>A (p.Glu345=)
NM_004408.4(DNM1):c.1089C>T (p.Asn363=) rs1377650055
NM_004408.4(DNM1):c.108G>T (p.Val36=)
NM_004408.4(DNM1):c.1104G>A (p.Glu368=)
NM_004408.4(DNM1):c.1107C>T (p.Arg369=)
NM_004408.4(DNM1):c.1122G>A (p.Leu374=)
NM_004408.4(DNM1):c.1125C>A (p.Val375=) rs760118978
NM_004408.4(DNM1):c.1128+12A>C
NM_004408.4(DNM1):c.1129-18C>A
NM_004408.4(DNM1):c.1134G>A (p.Glu378=) rs1365194190
NM_004408.4(DNM1):c.1140T>C (p.Asp380=)
NM_004408.4(DNM1):c.1149A>G (p.Glu383=)
NM_004408.4(DNM1):c.114C>A (p.Gly38=)
NM_004408.4(DNM1):c.114C>T (p.Gly38=) rs1326366504
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter) rs1835102166
NM_004408.4(DNM1):c.1182T>C (p.Asn394=) rs1171703565
NM_004408.4(DNM1):c.1196+14C>A
NM_004408.4(DNM1):c.1196+16T>C
NM_004408.4(DNM1):c.1196+17G>A
NM_004408.4(DNM1):c.1196+7A>C rs955349107
NM_004408.4(DNM1):c.1196+7A>T
NM_004408.4(DNM1):c.1196+8T>C rs1588370851
NM_004408.4(DNM1):c.1197-14C>T
NM_004408.4(DNM1):c.1197-16C>G
NM_004408.4(DNM1):c.1197-20C>T
NM_004408.4(DNM1):c.1206G>A (p.Leu402=) rs754423616
NM_004408.4(DNM1):c.1226T>C (p.Phe409Ser) rs2131181546
NM_004408.4(DNM1):c.1257G>A (p.Lys419=) rs2131181635
NM_004408.4(DNM1):c.1260C>T (p.Ile420=)
NM_004408.4(DNM1):c.1275C>G (p.Leu425=)
NM_004408.4(DNM1):c.1299G>A (p.Ser433=)
NM_004408.4(DNM1):c.1303C>T (p.Leu435=)
NM_004408.4(DNM1):c.1329C>G (p.Thr443=) rs2131181922
NM_004408.4(DNM1):c.1335+13C>T
NM_004408.4(DNM1):c.1335+14C>T
NM_004408.4(DNM1):c.1335+15C>G
NM_004408.4(DNM1):c.1335+15C>T rs779719063
NM_004408.4(DNM1):c.1335+16G>T rs768442528
NM_004408.4(DNM1):c.1335+7C>G
NM_004408.4(DNM1):c.1336-15_1336-8del
NM_004408.4(DNM1):c.1336-18C>T
NM_004408.4(DNM1):c.1336-6C>G
NM_004408.4(DNM1):c.1336-6C>T rs1400533057
NM_004408.4(DNM1):c.1344G>A (p.Gln448=) rs1352962318
NM_004408.4(DNM1):c.1350G>A (p.Pro450=)
NM_004408.4(DNM1):c.1377C>T (p.Ile459=) rs756256016
NM_004408.4(DNM1):c.138G>A (p.Ser46=) rs781131754
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp) rs772264918
NM_004408.4(DNM1):c.1401C>A (p.Arg467=)
NM_004408.4(DNM1):c.1416G>A (p.Lys472=) rs1835861637
NM_004408.4(DNM1):c.1422+13G>A
NM_004408.4(DNM1):c.1422+19G>A rs1440002003
NM_004408.4(DNM1):c.1422+19G>T
NM_004408.4(DNM1):c.1422+6_1422+83dup
NM_004408.4(DNM1):c.1422+8C>T
NM_004408.4(DNM1):c.1423-16C>T
NM_004408.4(DNM1):c.1423-16del
NM_004408.4(DNM1):c.1423-17C>T
NM_004408.4(DNM1):c.1461C>T (p.Asn487=) rs1318922555
NM_004408.4(DNM1):c.1462A>G (p.Thr488Ala) rs2131251443
NM_004408.4(DNM1):c.1493+17G>A
NM_004408.4(DNM1):c.1494-11C>T
NM_004408.4(DNM1):c.1494-5A>G rs1836247500
NM_004408.4(DNM1):c.1506G>A (p.Arg502=)
NM_004408.4(DNM1):c.1512C>T (p.Asn504=)
NM_004408.4(DNM1):c.1545+18C>A
NM_004408.4(DNM1):c.1557+1G>C rs1230944082
NM_004408.4(DNM1):c.1558-13C>T rs2131262430
NM_004408.4(DNM1):c.1566C>T (p.Arg522=)
NM_004408.4(DNM1):c.161+14G>A
NM_004408.4(DNM1):c.161+8C>T
NM_004408.4(DNM1):c.162-8C>T rs1205557529
NM_004408.4(DNM1):c.162-9T>G rs920593927
NM_004408.4(DNM1):c.1665T>C (p.Asp555=)
NM_004408.4(DNM1):c.1671+20T>C
NM_004408.4(DNM1):c.1671+7C>G
NM_004408.4(DNM1):c.1671+7C>T
NM_004408.4(DNM1):c.1672-19C>T
NM_004408.4(DNM1):c.1672-7C>T
NM_004408.4(DNM1):c.1698T>C (p.Ser566=) rs749674787
NM_004408.4(DNM1):c.1714C>T (p.Leu572=) rs2131283571
NM_004408.4(DNM1):c.1728G>A (p.Glu576=)
NM_004408.4(DNM1):c.1761C>T (p.Ala587=)
NM_004408.4(DNM1):c.1781+11G>A
NM_004408.4(DNM1):c.1781+16del
NM_004408.4(DNM1):c.1781+18G>C
NM_004408.4(DNM1):c.1781+9C>T
NM_004408.4(DNM1):c.1782-13C>G
NM_004408.4(DNM1):c.1782-13C>T
NM_004408.4(DNM1):c.1782-8T>C
NM_004408.4(DNM1):c.1807C>T (p.Leu603=)
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg) rs1564352065
NM_004408.4(DNM1):c.1893+7G>T rs1157263142
NM_004408.4(DNM1):c.1894-10G>A
NM_004408.4(DNM1):c.1894-8C>T rs912124924
NM_004408.4(DNM1):c.1905+9G>T rs2131289646
NM_004408.4(DNM1):c.1906-12T>C
NM_004408.4(DNM1):c.1920G>A (p.Glu640=) rs1554784647
NM_004408.4(DNM1):c.1935C>T (p.Asp645=)
NM_004408.4(DNM1):c.1969C>A (p.Arg657=) rs2131291997
NM_004408.4(DNM1):c.1983C>T (p.Thr661=)
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr) rs1437208936
NM_004408.4(DNM1):c.2022C>T (p.Asn674=)
NM_004408.4(DNM1):c.2028C>T (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2031G>A (p.Val677=) rs1441521036
NM_004408.4(DNM1):c.2055C>A (p.Ile685=)
NM_004408.4(DNM1):c.2061C>T (p.His687=) rs1026710429
NM_004408.4(DNM1):c.2077-11C>G
NM_004408.4(DNM1):c.2077-13dup
NM_004408.4(DNM1):c.2077-16C>T
NM_004408.4(DNM1):c.2077-5C>G
NM_004408.4(DNM1):c.2077-8A>G
NM_004408.4(DNM1):c.2082G>A (p.Lys694=) rs1284689897
NM_004408.4(DNM1):c.2106G>C (p.Leu702=)
NM_004408.4(DNM1):c.2121G>A (p.Ser707=)
NM_004408.4(DNM1):c.2154G>C (p.Ser718=)
NM_004408.4(DNM1):c.2157G>C (p.Ala719=)
NM_004408.4(DNM1):c.216G>A (p.Gln72=) rs781185286
NM_004408.4(DNM1):c.2170C>A (p.Arg724=) rs1386035686
NM_004408.4(DNM1):c.2178C>T (p.Asp726=)
NM_004408.4(DNM1):c.2187G>A (p.Leu729=) rs749382749
NM_004408.4(DNM1):c.2190C>T (p.Arg730=)
NM_004408.4(DNM1):c.21A>G (p.Glu7=)
NM_004408.4(DNM1):c.2208G>A (p.Lys736=) rs1829430358
NM_004408.4(DNM1):c.2211G>A (p.Glu737=)
NM_004408.4(DNM1):c.2241G>C (p.Thr747=) rs1184149576
NM_004408.4(DNM1):c.2241G>T (p.Thr747=)
NM_004408.4(DNM1):c.2271C>G (p.Pro757=) rs762520472
NM_004408.4(DNM1):c.2271C>T (p.Pro757=) rs762520472
NM_004408.4(DNM1):c.2289G>T (p.Leu763=) rs1393047937
NM_004408.4(DNM1):c.2318+11C>T
NM_004408.4(DNM1):c.2318+14C>A rs1251375115
NM_004408.4(DNM1):c.2318+17C>T
NM_004408.4(DNM1):c.2318+7G>C
NM_004408.4(DNM1):c.2319-18G>C
NM_004408.4(DNM1):c.2319-20T>C
NM_004408.4(DNM1):c.2319-5C>G rs947802436
NM_004408.4(DNM1):c.2319-5C>T
NM_004408.4(DNM1):c.2319-8G>A
NM_004408.4(DNM1):c.2319-9C>T
NM_004408.4(DNM1):c.2340G>A (p.Thr780=)
NM_004408.4(DNM1):c.235+18C>T
NM_004408.4(DNM1):c.235+9C>T rs1834733486
NM_004408.4(DNM1):c.236-17G>T
NM_004408.4(DNM1):c.2367C>A (p.Pro789=)
NM_004408.4(DNM1):c.2385G>A (p.Ser795=)
NM_004408.4(DNM1):c.2391C>G (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2391C>T (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2427G>C (p.Leu809=) rs897409469
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val) rs888747029
NM_004408.4(DNM1):c.2430G>C (p.Gly810=)
NM_004408.4(DNM1):c.2436G>T (p.Ala812=)
NM_004408.4(DNM1):c.243C>A (p.Ala81=)
NM_004408.4(DNM1):c.2442C>G (p.Pro814=)
NM_004408.4(DNM1):c.2445G>T (p.Val815=)
NM_004408.4(DNM1):c.2466C>A (p.Ser822=)
NM_004408.4(DNM1):c.246G>A (p.Glu82=)
NM_004408.4(DNM1):c.2484T>A (p.Pro828=) rs888550421
NM_004408.4(DNM1):c.2496G>A (p.Val832=) rs2131299802
NM_004408.4(DNM1):c.2526G>T (p.Gly842=) rs1390465556
NM_004408.4(DNM1):c.2529C>A (p.Val843=)
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg) rs1564355393
NM_004408.4(DNM1):c.2534+11G>A
NM_004408.4(DNM1):c.2534+7A>G
NM_004408.4(DNM1):c.2535-17T>C
NM_004408.4(DNM1):c.2541G>T (p.Ser847=)
NM_004408.4(DNM1):c.2544T>G (p.Gly848=)
NM_004408.4(DNM1):c.2550A>G (p.Ala850=)
NM_004408.4(DNM1):c.2583dup (p.Phe862fs) rs1244967245
NM_004408.4(DNM1):c.2589C>T (p.Asp863=)
NM_004408.4(DNM1):c.2592C>T (p.Leu864=) rs2131314459
NM_004408.4(DNM1):c.2594A>G (p.Ter865=) rs550838267
NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala) rs2131150312
NM_004408.4(DNM1):c.291G>A (p.Val97=)
NM_004408.4(DNM1):c.304G>A (p.Glu102Lys) rs2131150438
NM_004408.4(DNM1):c.327C>T (p.Thr109=)
NM_004408.4(DNM1):c.342C>T (p.Gly114=) rs553331150
NM_004408.4(DNM1):c.36G>A (p.Leu12=)
NM_004408.4(DNM1):c.375C>T (p.Tyr125=) rs2131150705
NM_004408.4(DNM1):c.385+11T>C
NM_004408.4(DNM1):c.385+18G>A rs2131150824
NM_004408.4(DNM1):c.385+18G>C
NM_004408.4(DNM1):c.385+8C>T
NM_004408.4(DNM1):c.386-11G>T
NM_004408.4(DNM1):c.386-4C>G
NM_004408.4(DNM1):c.386-7T>C rs1588352214
NM_004408.4(DNM1):c.411G>A (p.Leu137=)
NM_004408.4(DNM1):c.411G>T (p.Leu137=) rs1051766292
NM_004408.4(DNM1):c.435G>T (p.Val145=)
NM_004408.4(DNM1):c.438G>A (p.Gly146=)
NM_004408.4(DNM1):c.456C>A (p.Ile152=)
NM_004408.4(DNM1):c.468C>T (p.Ile156=)
NM_004408.4(DNM1):c.471A>G (p.Arg157=) rs2131152882
NM_004408.4(DNM1):c.507C>T (p.Cys169=)
NM_004408.4(DNM1):c.519C>T (p.Ala173=) rs2131152966
NM_004408.4(DNM1):c.54C>T (p.Asp18=) rs2131061036
NM_004408.4(DNM1):c.589+14C>G
NM_004408.4(DNM1):c.589+19G>A
NM_004408.4(DNM1):c.589+8C>T rs1588352832
NM_004408.4(DNM1):c.599C>T (p.Thr200Ile) rs1834848160
NM_004408.4(DNM1):c.600C>G (p.Thr200=)
NM_004408.4(DNM1):c.609C>T (p.Val203=) rs1430929380
NM_004408.4(DNM1):c.60C>T (p.Phe20=)
NM_004408.4(DNM1):c.636G>A (p.Glu212=) rs766735683
NM_004408.4(DNM1):c.644A>T (p.Asp215Val)
NM_004408.4(DNM1):c.660G>A (p.Leu220=)
NM_004408.4(DNM1):c.669G>A (p.Lys223=) rs2131157240
NM_004408.4(DNM1):c.683G>A (p.Arg228His) rs866946278
NM_004408.4(DNM1):c.688+11C>T rs2131157325
NM_004408.4(DNM1):c.688+13T>C
NM_004408.4(DNM1):c.688+16C>A
NM_004408.4(DNM1):c.688+16C>G
NM_004408.4(DNM1):c.688+17C>T
NM_004408.4(DNM1):c.688+18C>G rs1253064816
NM_004408.4(DNM1):c.688+18C>T
NM_004408.4(DNM1):c.689-11A>T
NM_004408.4(DNM1):c.689-7T>C
NM_004408.4(DNM1):c.723C>T (p.Asp241=)
NM_004408.4(DNM1):c.729T>C (p.Asp243=)
NM_004408.4(DNM1):c.741C>T (p.Asp247=)
NM_004408.4(DNM1):c.750C>T (p.Ala250=) rs778276496
NM_004408.4(DNM1):c.753C>T (p.Ala251=) rs1834862864
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser) rs752005713
NM_004408.4(DNM1):c.75G>A (p.Gln25=)
NM_004408.4(DNM1):c.766C>T (p.Arg256Ter) rs1456731322
NM_004408.4(DNM1):c.780C>G (p.Leu260=)
NM_004408.4(DNM1):c.791C>A (p.Ser264Tyr) rs778811040
NM_004408.4(DNM1):c.792T>A (p.Ser264=)
NM_004408.4(DNM1):c.801C>T (p.His267=)
NM_004408.4(DNM1):c.807T>C (p.Ala269=) rs1261949821
NM_004408.4(DNM1):c.81G>A (p.Ala27=) rs1268920821
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu) rs1156961123
NM_004408.4(DNM1):c.843C>T (p.Leu281=) rs764376283
NM_004408.4(DNM1):c.849+10C>A rs2131158360
NM_004408.4(DNM1):c.858G>A (p.Thr286=)
NM_004408.4(DNM1):c.876A>G (p.Thr292=) rs1194475149
NM_004408.4(DNM1):c.888G>A (p.Leu296=)
NM_004408.4(DNM1):c.891G>C (p.Arg297=) rs2131172668
NM_004408.4(DNM1):c.898C>T (p.Leu300=)
NM_004408.4(DNM1):c.909G>A (p.Gln303=)
NM_004408.4(DNM1):c.921T>C (p.Ile307=)
NM_004408.4(DNM1):c.930G>A (p.Glu310=) rs1272441165
NM_004408.4(DNM1):c.942C>T (p.Tyr314=)
NM_004408.4(DNM1):c.945G>T (p.Lys315Asn) rs528406413
NM_004408.4(DNM1):c.954C>T (p.Arg318=) rs774518740
NM_004408.4(DNM1):c.987G>A (p.Leu329=)
NM_004408.4(DNM1):c.993-10C>G
NM_004408.4(DNM1):c.993-17C>T
NM_004408.4(DNM1):c.993-19C>G rs1835081298
NM_004408.4(DNM1):c.993-6C>T rs1196657001

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