ClinVar Miner

List of variants studied for Familial infantile myasthenia

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ClinVar version:
Total variants: 854
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HGVS dbSNP gnomAD frequency
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu) rs8187730 0.99621
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
NM_020549.5(CHAT):c.580-35G>A rs1880677 0.97479
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_020549.5(CHAT):c.1839+71C>T rs7076926 0.82115
NM_020549.5(CHAT):c.-44G>C rs7903315 0.54734
NM_020549.5(CHAT):c.1635-58A>C rs12264845 0.39300
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.287-431G>A rs1880676 0.17399
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_020549.5(CHAT):c.1674C>T (p.Ser558=) rs7073028 0.02218
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_020549.5(CHAT):c.1281+16G>A rs61132699 0.02037
NM_020549.5(CHAT):c.1131G>A (p.Ser377=) rs115126024 0.02036
NM_020549.5(CHAT):c.1122C>T (p.Asn374=) rs61115650 0.02026
NM_020549.5(CHAT):c.903T>C (p.Pro301=) rs113897064 0.01548
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg) rs78925077 0.00824
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu) rs868749 0.00385
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020549.5(CHAT):c.1111+8G>A rs142454032 0.00191
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00187
NM_020549.5(CHAT):c.576C>T (p.Asn192=) rs150236872 0.00176
NM_020549.5(CHAT):c.789G>A (p.Leu263=) rs114090981 0.00172
NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn) rs148525631 0.00143
NM_020549.5(CHAT):c.909C>T (p.His303=) rs76570508 0.00136
NM_020549.5(CHAT):c.753-16C>T rs201489027 0.00133
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu) rs79414242 0.00129
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg) rs61731735 0.00082
NM_020549.5(CHAT):c.327G>A (p.Thr109=) rs79914771 0.00060
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr) rs115877658 0.00056
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) rs114545628 0.00037
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_020549.5(CHAT):c.1716G>A (p.Ser572=) rs374000183 0.00027
NM_020549.5(CHAT):c.1894C>T (p.Arg632Trp) rs141127966 0.00027
NM_020549.5(CHAT):c.2178G>A (p.Pro726=) rs77144546 0.00026
NM_020549.5(CHAT):c.858C>T (p.Thr286=) rs200423662 0.00024
NM_020549.5(CHAT):c.1955G>A (p.Arg652Gln) rs116628504 0.00023
NM_020549.5(CHAT):c.754C>T (p.His252Tyr) rs376994468 0.00023
NM_020549.5(CHAT):c.1173C>T (p.Asp391=) rs141690626 0.00021
NM_020549.5(CHAT):c.1511+16G>A rs772971552 0.00019
NM_020549.5(CHAT):c.1511+13G>A rs561823003 0.00016
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu) rs142285373 0.00016
NM_020549.5(CHAT):c.1111+7C>T rs767946637 0.00015
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln) rs200335347 0.00015
NM_020549.5(CHAT):c.1038T>C (p.Arg346=) rs367961073 0.00014
NM_020549.5(CHAT):c.494T>C (p.Ile165Thr) rs148155075 0.00014
NM_020549.5(CHAT):c.1123C>T (p.Arg375Trp) rs141794970 0.00013
NM_020549.5(CHAT):c.740C>T (p.Ala247Val) rs561562136 0.00013
NM_020549.5(CHAT):c.867G>A (p.Thr289=) rs574542737 0.00012
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln) rs201616704 0.00011
NM_020549.5(CHAT):c.1382T>C (p.Val461Ala) rs918273981 0.00011
NM_020549.5(CHAT):c.1419C>T (p.Ser473=) rs200175587 0.00011
NM_020549.5(CHAT):c.1977+4C>T rs200116201 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_020549.5(CHAT):c.866C>T (p.Thr289Met) rs139352363 0.00011
NM_020549.5(CHAT):c.119G>T (p.Gly40Val) rs776411377 0.00010
NM_020549.5(CHAT):c.1275C>A (p.Ser425=) rs767778694 0.00010
NM_020549.5(CHAT):c.1385C>T (p.Thr462Met) rs538478136 0.00010
NM_020549.5(CHAT):c.284C>A (p.Ala95Glu) rs977117524 0.00010
NM_020549.5(CHAT):c.435G>A (p.Thr145=) rs77296560 0.00010
NM_020549.5(CHAT):c.474G>A (p.Gln158=) rs143662656 0.00010
NM_020549.5(CHAT):c.580-9C>G rs371756448 0.00010
NM_020549.5(CHAT):c.629T>C (p.Leu210Pro) rs121912820 0.00010
NM_020549.5(CHAT):c.651C>T (p.Ala217=) rs575515952 0.00010
NM_020549.5(CHAT):c.1494G>A (p.Ser498=) rs139722660 0.00009
NM_020549.5(CHAT):c.1511+5G>A rs371888779 0.00009
NM_020549.5(CHAT):c.1635-3C>G rs761868634 0.00009
NM_020549.5(CHAT):c.349C>T (p.Arg117Cys) rs200361897 0.00009
NM_020549.5(CHAT):c.699-5T>C rs1321871575 0.00009
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys) rs147815999 0.00009
NM_020549.5(CHAT):c.1086C>T (p.Ala362=) rs374870408 0.00008
NM_020549.5(CHAT):c.1338T>C (p.Asp446=) rs777957584 0.00008
NM_020549.5(CHAT):c.326C>T (p.Thr109Met) rs542610160 0.00008
NM_020549.5(CHAT):c.417G>C (p.Leu139=) rs116390167 0.00008
NM_020549.5(CHAT):c.678T>C (p.Pro226=) rs142740451 0.00008
NM_020549.5(CHAT):c.117G>C (p.Ser39=) rs768179285 0.00007
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile) rs757733319 0.00007
NM_020549.5(CHAT):c.207C>T (p.Pro69=) rs1490764401 0.00007
NM_020549.5(CHAT):c.1032C>T (p.Asp344=) rs145203976 0.00006
NM_020549.5(CHAT):c.1266C>T (p.Tyr422=) rs201381950 0.00006
NM_020549.5(CHAT):c.1375A>G (p.Lys459Glu) rs769398642 0.00006
NM_020549.5(CHAT):c.1460G>T (p.Cys487Phe) rs201293521 0.00006
NM_020549.5(CHAT):c.1671G>A (p.Ala557=) rs777066390 0.00006
NM_020549.5(CHAT):c.1814G>A (p.Arg605His) rs199926163 0.00006
NM_020549.5(CHAT):c.1882C>A (p.Arg628=) rs116097791 0.00006
NM_020549.5(CHAT):c.580-5G>A rs763339825 0.00006
NM_020549.5(CHAT):c.929A>G (p.Asn310Ser) rs149976821 0.00006
NM_020549.5(CHAT):c.968G>A (p.Arg323His) rs200176236 0.00006
NM_020549.5(CHAT):c.1142T>C (p.Ile381Thr) rs372758559 0.00005
NM_020549.5(CHAT):c.114G>C (p.Gln38His) rs746540866 0.00005
NM_020549.5(CHAT):c.1230C>T (p.Gly410=) rs779724822 0.00005
NM_020549.5(CHAT):c.1423A>T (p.Ser475Cys) rs765549293 0.00005
NM_020549.5(CHAT):c.156C>T (p.Ala52=) rs1286222980 0.00005
NM_020549.5(CHAT):c.2139A>C (p.Glu713Asp) rs771548584 0.00005
NM_020549.5(CHAT):c.794G>A (p.Gly265Glu) rs777336258 0.00005
NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys) rs778837182 0.00004
NM_020549.5(CHAT):c.1037G>A (p.Arg346His) rs779668516 0.00004
NM_020549.5(CHAT):c.1062G>A (p.Thr354=) rs529337162 0.00004
NM_020549.5(CHAT):c.1074G>A (p.Arg358=) rs371905802 0.00004
NM_020549.5(CHAT):c.1105G>A (p.Val369Met) rs769754418 0.00004
NM_020549.5(CHAT):c.1467G>A (p.Pro489=) rs558057516 0.00004
NM_020549.5(CHAT):c.1512-5C>A rs187862179 0.00004
NM_020549.5(CHAT):c.1668C>T (p.Ser556=) rs55702495 0.00004
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 0.00004
NM_020549.5(CHAT):c.1735G>A (p.Ala579Thr) rs750002983 0.00004
NM_020549.5(CHAT):c.1771G>A (p.Val591Met) rs201485243 0.00004
NM_020549.5(CHAT):c.1971T>C (p.Thr657=) rs368254411 0.00004
NM_020549.5(CHAT):c.1977+5G>A rs780449243 0.00004
NM_020549.5(CHAT):c.287-4C>G rs779267880 0.00004
NM_020549.5(CHAT):c.374G>A (p.Ser125Asn) rs756138129 0.00004
NM_020549.5(CHAT):c.388-4C>T rs369932994 0.00004
NM_020549.5(CHAT):c.414G>A (p.Pro138=) rs199675090 0.00004
NM_020549.5(CHAT):c.886A>G (p.Ser296Gly) rs141599748 0.00004
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met) rs769234940 0.00003
NM_020549.5(CHAT):c.1068C>T (p.Asp356=) rs748193892 0.00003
NM_020549.5(CHAT):c.1281+8G>A rs376227674 0.00003
NM_020549.5(CHAT):c.1550A>C (p.Asp517Ala) rs1368752304 0.00003
NM_020549.5(CHAT):c.1635-5C>A rs776745899 0.00003
NM_020549.5(CHAT):c.1654C>T (p.Pro552Ser) rs147079245 0.00003
NM_020549.5(CHAT):c.1656C>T (p.Pro552=) rs1268229300 0.00003
NM_020549.5(CHAT):c.1675A>G (p.Ile559Val) rs202040717 0.00003
NM_020549.5(CHAT):c.181C>T (p.Pro61Ser) rs923971969 0.00003
NM_020549.5(CHAT):c.1895G>A (p.Arg632Gln) rs758448736 0.00003
NM_020549.5(CHAT):c.2183C>T (p.Thr728Ile) rs74334349 0.00003
NM_020549.5(CHAT):c.26G>A (p.Arg9Lys) rs1056302745 0.00003
NM_020549.5(CHAT):c.314G>C (p.Gly105Ala) rs149711635 0.00003
NM_020549.5(CHAT):c.387+18C>A rs758829418 0.00003
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln) rs202059535 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_020549.5(CHAT):c.910G>A (p.Val304Ile) rs116362950 0.00003
NM_020549.5(CHAT):c.93G>C (p.Val31=) rs1399903985 0.00003
NM_020549.5(CHAT):c.1026C>T (p.Asn342=) rs752685760 0.00002
NM_020549.5(CHAT):c.1148G>A (p.Arg383His) rs779919147 0.00002
NM_020549.5(CHAT):c.1186G>A (p.Val396Met) rs536359684 0.00002
NM_020549.5(CHAT):c.1227C>T (p.His409=) rs578201320 0.00002
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser) rs115964813 0.00002
NM_020549.5(CHAT):c.1383-4G>A rs779952434 0.00002
NM_020549.5(CHAT):c.1386G>A (p.Thr462=) rs770792319 0.00002
NM_020549.5(CHAT):c.1451G>A (p.Arg484Gln) rs771901229 0.00002
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro) rs1409506586 0.00002
NM_020549.5(CHAT):c.157G>A (p.Gly53Arg) rs968331105 0.00002
NM_020549.5(CHAT):c.1661A>G (p.Tyr554Cys) rs778572568 0.00002
NM_020549.5(CHAT):c.1784A>T (p.Glu595Val) rs190968891 0.00002
NM_020549.5(CHAT):c.1840-9A>G rs1279554995 0.00002
NM_020549.5(CHAT):c.18G>A (p.Ala6=) rs1348352777 0.00002
NM_020549.5(CHAT):c.1992G>A (p.Thr664=) rs767717703 0.00002
NM_020549.5(CHAT):c.2185G>A (p.Glu729Lys) rs751461280 0.00002
NM_020549.5(CHAT):c.2219C>T (p.Thr740Met) rs755783618 0.00002
NM_020549.5(CHAT):c.230A>G (p.His77Arg) rs1158850299 0.00002
NM_020549.5(CHAT):c.258G>C (p.Ser86=) rs778636468 0.00002
NM_020549.5(CHAT):c.283G>T (p.Ala95Ser) rs1429339523 0.00002
NM_020549.5(CHAT):c.350G>A (p.Arg117His) rs376641216 0.00002
NM_020549.5(CHAT):c.387T>C (p.Ser129=) rs143723043 0.00002
NM_020549.5(CHAT):c.394C>T (p.Pro132Ser) rs1323843750 0.00002
NM_020549.5(CHAT):c.492C>T (p.Ala164=) rs746798016 0.00002
NM_020549.5(CHAT):c.707C>T (p.Ala236Val) rs770250348 0.00002
NM_020549.5(CHAT):c.864C>T (p.Asp288=) rs766217426 0.00002
NM_020549.5(CHAT):c.890T>C (p.Ile297Thr) rs1373162548 0.00002
NM_020549.5(CHAT):c.897G>A (p.Pro299=) rs756942813 0.00002
NM_020549.5(CHAT):c.92T>G (p.Val31Gly) rs1016283273 0.00002
NM_020549.5(CHAT):c.94C>T (p.Arg32Trp) rs1464103196 0.00002
NM_020549.5(CHAT):c.1025A>G (p.Asn342Ser) rs781745178 0.00001
NM_020549.5(CHAT):c.1033G>A (p.Glu345Lys) rs200776329 0.00001
NM_020549.5(CHAT):c.1044T>A (p.Pro348=) rs200009054 0.00001
NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr) rs1004933171 0.00001
NM_020549.5(CHAT):c.1098G>A (p.Thr366=) rs780860401 0.00001
NM_020549.5(CHAT):c.1144G>C (p.Glu382Gln) rs1463880522 0.00001
NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln) rs1049061686 0.00001
NM_020549.5(CHAT):c.1197C>T (p.Ser399=) rs554276268 0.00001
NM_020549.5(CHAT):c.1211C>T (p.Ala404Val) rs192592698 0.00001
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser) rs749948399 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn) rs759707536 0.00001
NM_020549.5(CHAT):c.127G>A (p.Gly43Arg) rs1423177834 0.00001
NM_020549.5(CHAT):c.1281+7C>T rs776458664 0.00001
NM_020549.5(CHAT):c.1282-3C>T rs1373606481 0.00001
NM_020549.5(CHAT):c.1282-6T>C rs771457200 0.00001
NM_020549.5(CHAT):c.1320C>T (p.Cys440=) rs766466820 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1360A>G (p.Thr454Ala) rs745938985 0.00001
NM_020549.5(CHAT):c.1409G>A (p.Arg470Gln) rs774834313 0.00001
NM_020549.5(CHAT):c.1420G>A (p.Val474Ile) rs371719364 0.00001
NM_020549.5(CHAT):c.1434C>T (p.Pro478=) rs1322638546 0.00001
NM_020549.5(CHAT):c.1466C>T (p.Pro489Leu) rs764921945 0.00001
NM_020549.5(CHAT):c.1485A>G (p.Leu495=) rs151031033 0.00001
NM_020549.5(CHAT):c.1490C>T (p.Ser497Phe) rs141878259 0.00001
NM_020549.5(CHAT):c.1493C>T (p.Ser498Leu) rs121912821 0.00001
NM_020549.5(CHAT):c.1497A>G (p.Ala499=) rs752844751 0.00001
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter) rs371470622 0.00001
NM_020549.5(CHAT):c.1511+11C>T rs746929234 0.00001
NM_020549.5(CHAT):c.1512-15C>T rs757451959 0.00001
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu) rs121912817 0.00001
NM_020549.5(CHAT):c.1530C>T (p.Asp510=) rs558298529 0.00001
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter) rs369251527 0.00001
NM_020549.5(CHAT):c.1643G>A (p.Arg548Gln) rs141881680 0.00001
NM_020549.5(CHAT):c.1662C>T (p.Tyr554=) rs145370753 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter) rs1458796820 0.00001
NM_020549.5(CHAT):c.1696C>T (p.Arg566Cys) rs368957556 0.00001
NM_020549.5(CHAT):c.1750G>A (p.Val584Met) rs547073881 0.00001
NM_020549.5(CHAT):c.1769C>T (p.Ala590Val) rs1313042835 0.00001
NM_020549.5(CHAT):c.176C>T (p.Pro59Leu) rs766916844 0.00001
NM_020549.5(CHAT):c.1801A>G (p.Lys601Glu) rs1399092731 0.00001
NM_020549.5(CHAT):c.180C>T (p.His60=) rs991244716 0.00001
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn) rs1178039732 0.00001
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn) rs773228076 0.00001
NM_020549.5(CHAT):c.1839+10G>A rs570678896 0.00001
NM_020549.5(CHAT):c.1839+9C>T rs777285888 0.00001
NM_020549.5(CHAT):c.1880T>C (p.Leu627Pro) rs775066227 0.00001
NM_020549.5(CHAT):c.1968C>T (p.Ser656=) rs1303365039 0.00001
NM_020549.5(CHAT):c.198C>T (p.Arg66=) rs1230433889 0.00001
NM_020549.5(CHAT):c.2004C>G (p.Cys668Trp) rs1156904329 0.00001
NM_020549.5(CHAT):c.201C>T (p.Pro67=) rs978684444 0.00001
NM_020549.5(CHAT):c.2049C>T (p.Asn683=) rs758454149 0.00001
NM_020549.5(CHAT):c.205C>A (p.Pro69Thr) rs924554606 0.00001
NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys) rs201439531 0.00001
NM_020549.5(CHAT):c.2112T>C (p.Ser704=) rs1316813571 0.00001
NM_020549.5(CHAT):c.2147T>C (p.Ile716Thr) rs1419018923 0.00001
NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp) rs1840309929 0.00001
NM_020549.5(CHAT):c.221C>T (p.Thr74Ile) rs1268273103 0.00001
NM_020549.5(CHAT):c.222C>T (p.Thr74=) rs767600029 0.00001
NM_020549.5(CHAT):c.2234G>A (p.Gly745Glu) rs867343616 0.00001
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter) rs1384661323 0.00001
NM_020549.5(CHAT):c.244T>G (p.Cys82Gly) rs1330484583 0.00001
NM_020549.5(CHAT):c.24G>A (p.Lys8=) rs1444707075 0.00001
NM_020549.5(CHAT):c.276G>C (p.Pro92=) rs745665140 0.00001
NM_020549.5(CHAT):c.287-16A>T rs1289534650 0.00001
NM_020549.5(CHAT):c.316C>T (p.Leu106Phe) rs776042082 0.00001
NM_020549.5(CHAT):c.357G>A (p.Met119Ile) rs759310217 0.00001
NM_020549.5(CHAT):c.393G>T (p.Leu131=) rs769827861 0.00001
NM_020549.5(CHAT):c.413C>T (p.Pro138Leu) rs557059182 0.00001
NM_020549.5(CHAT):c.528C>T (p.Gly176=) rs778476300 0.00001
NM_020549.5(CHAT):c.532A>T (p.Thr178Ser) rs757480104 0.00001
NM_020549.5(CHAT):c.534C>T (p.Thr178=) rs1838639286 0.00001
NM_020549.5(CHAT):c.540G>C (p.Gln180His) rs200143133 0.00001
NM_020549.5(CHAT):c.54G>A (p.Lys18=) rs1237220229 0.00001
NM_020549.5(CHAT):c.580-6C>T rs749162949 0.00001
NM_020549.5(CHAT):c.618C>T (p.Asn206=) rs775282060 0.00001
NM_020549.5(CHAT):c.619C>T (p.Arg207Cys) rs760936252 0.00001
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala) rs121912815 0.00001
NM_020549.5(CHAT):c.652G>A (p.Val218Met) rs751863010 0.00001
NM_020549.5(CHAT):c.657C>A (p.Ile219=) rs1280679259 0.00001
NM_020549.5(CHAT):c.719C>T (p.Ser240Phe) rs1269023544 0.00001
NM_020549.5(CHAT):c.798G>A (p.Gln266=) rs142237923 0.00001
NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys) rs1186633197 0.00001
NM_020549.5(CHAT):c.841C>T (p.Arg281Trp) rs747108035 0.00001
NM_020549.5(CHAT):c.843G>C (p.Arg281=) rs768892260 0.00001
NM_020549.5(CHAT):c.849C>T (p.Pro283=) rs1342051924 0.00001
NM_020549.5(CHAT):c.84G>T (p.Arg28Ser) rs745753124 0.00001
NM_020549.5(CHAT):c.916G>A (p.Val306Ile) rs551219437 0.00001
NM_020549.5(CHAT):c.965G>A (p.Arg322His) rs906626657 0.00001
NC_000010.10:g.(?_50818787)_(50824668_?)dup
NC_000010.10:g.(?_50818787)_(50873092_?)dup
NC_000010.10:g.(?_50821083)_(50874150_?)del
NC_000010.10:g.(?_50821083)_(50874150_?)dup
NC_000010.10:g.(?_50822226)_(50873102_?)dup
NC_000010.10:g.(?_50854637)_(50864625_?)del
NC_000010.10:g.(?_50856533)_(50857702_?)del
NC_000010.10:g.(?_50872803)_(50873092_?)del
NC_000010.11:g.(?_49614170)_(49665066_?)del
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) rs121912823
NM_020549.5(CHAT):c.1009G>C (p.Val337Leu) rs1462079971
NM_020549.5(CHAT):c.1023C>G (p.Ser341=)
NM_020549.5(CHAT):c.1026C>A (p.Asn342Lys)
NM_020549.5(CHAT):c.1027G>T (p.Glu343Ter)
NM_020549.5(CHAT):c.1041G>A (p.Leu347=)
NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu) rs1411738057
NM_020549.5(CHAT):c.1050T>C (p.Ile350=)
NM_020549.5(CHAT):c.1058_1061dup (p.Ser355fs)
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser) rs2132735749
NM_020549.5(CHAT):c.1069G>T (p.Gly357Trp) rs61731735
NM_020549.5(CHAT):c.1077C>T (p.Ser359=)
NM_020549.5(CHAT):c.1078G>A (p.Glu360Lys)
NM_020549.5(CHAT):c.1080G>A (p.Glu360=)
NM_020549.5(CHAT):c.1086C>G (p.Ala362=)
NM_020549.5(CHAT):c.1092C>A (p.Ala364=)
NM_020549.5(CHAT):c.1097C>A (p.Thr366Lys) rs533289708
NM_020549.5(CHAT):c.1097C>T (p.Thr366Met) rs533289708
NM_020549.5(CHAT):c.1104C>T (p.Leu368=)
NM_020549.5(CHAT):c.1110_1111delAG (p.Asp371fs)
NM_020549.5(CHAT):c.1111+11G>A
NM_020549.5(CHAT):c.1111+13G>A
NM_020549.5(CHAT):c.1111+16C>T
NM_020549.5(CHAT):c.1112-12C>A
NM_020549.5(CHAT):c.1112-14T>C
NM_020549.5(CHAT):c.1112-16C>T
NM_020549.5(CHAT):c.1112-1G>C
NM_020549.5(CHAT):c.1112-20T>G
NM_020549.5(CHAT):c.1112-4G>A
NM_020549.5(CHAT):c.1112-5T>C
NM_020549.5(CHAT):c.1112-6C>A
NM_020549.5(CHAT):c.1112-8C>T
NM_020549.5(CHAT):c.111C>T (p.Leu37=)
NM_020549.5(CHAT):c.1123C>A (p.Arg375=) rs141794970
NM_020549.5(CHAT):c.1125G>A (p.Arg375=)
NM_020549.5(CHAT):c.1137C>T (p.Asp379=)
NM_020549.5(CHAT):c.1145A>G (p.Glu382Gly) rs2132799619
NM_020549.5(CHAT):c.1148G>C (p.Arg383Pro) rs779919147
NM_020549.5(CHAT):c.1155C>G (p.Ile385Met) rs1209379806
NM_020549.5(CHAT):c.1162G>C (p.Val388Leu) rs747366078
NM_020549.5(CHAT):c.1167C>T (p.Cys389=)
NM_020549.5(CHAT):c.1176G>A (p.Ala392=)
NM_020549.5(CHAT):c.1177C>T (p.Pro393Ser)
NM_020549.5(CHAT):c.1179A>G (p.Pro393=) rs1013445287
NM_020549.5(CHAT):c.1188G>A (p.Val396=)
NM_020549.5(CHAT):c.1194C>T (p.Leu398=)
NM_020549.5(CHAT):c.1198G>C (p.Asp400His) rs8178991
NM_020549.5(CHAT):c.1203C>A (p.Thr401=)
NM_020549.5(CHAT):c.120T>C (p.Gly40=)
NM_020549.5(CHAT):c.1224T>C (p.Leu408=)
NM_020549.5(CHAT):c.122G>A (p.Gly41Asp) rs1441347177
NM_020549.5(CHAT):c.122G>C (p.Gly41Ala) rs1441347177
NM_020549.5(CHAT):c.1230C>A (p.Gly410=)
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1233A>G (p.Gly411=)
NM_020549.5(CHAT):c.1236C>A (p.Gly412=)
NM_020549.5(CHAT):c.1242C>T (p.Ser414=)
NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)
NM_020549.5(CHAT):c.1251G>C (p.Gly417=)
NM_020549.5(CHAT):c.1254C>T (p.Ala418=)
NM_020549.5(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_020549.5(CHAT):c.1262G>C (p.Trp421Ser)
NM_020549.5(CHAT):c.1263G>A (p.Trp421Ter)
NM_020549.5(CHAT):c.1269C>T (p.Asp423=)
NM_020549.5(CHAT):c.126C>T (p.Arg42=)
NM_020549.5(CHAT):c.1278G>A (p.Leu426=)
NM_020549.5(CHAT):c.1281+6C>T rs745923819
NM_020549.5(CHAT):c.1282-11T>C
NM_020549.5(CHAT):c.1282-13T>C
NM_020549.5(CHAT):c.1282-14_1282-13del
NM_020549.5(CHAT):c.1282-16C>T
NM_020549.5(CHAT):c.1282-19T>C
NM_020549.5(CHAT):c.1282-2A>T
NM_020549.5(CHAT):c.1282-4G>A
NM_020549.5(CHAT):c.1286T>C (p.Val429Ala) rs1839755600
NM_020549.5(CHAT):c.1289T>C (p.Val430Ala)
NM_020549.5(CHAT):c.1291G>T (p.Gly431Cys) rs1554807467
NM_020549.5(CHAT):c.1294C>T (p.Arg432Ter)
NM_020549.5(CHAT):c.1295G>A (p.Arg432Gln)
NM_020549.5(CHAT):c.1299C>T (p.Asp433=)
NM_020549.5(CHAT):c.1309G>A (p.Gly437Ser) rs562560467
NM_020549.5(CHAT):c.1313T>C (p.Val438Ala)
NM_020549.5(CHAT):c.1326C>T (p.His442=)
NM_020549.5(CHAT):c.1341C>T (p.Gly447=) rs1014316815
NM_020549.5(CHAT):c.1344C>T (p.Ile448=) rs754253168
NM_020549.5(CHAT):c.1347C>T (p.Val449=)
NM_020549.5(CHAT):c.1356G>A (p.Gln452=)
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)
NM_020549.5(CHAT):c.135G>A (p.Pro45=)
NM_020549.5(CHAT):c.135G>C (p.Pro45=) rs954236201
NM_020549.5(CHAT):c.135G>T (p.Pro45=)
NM_020549.5(CHAT):c.1360A>T (p.Thr454Ser) rs745938985
NM_020549.5(CHAT):c.1362T>C (p.Thr454=)
NM_020549.5(CHAT):c.1362T>G (p.Thr454=)
NM_020549.5(CHAT):c.1371G>A (p.Leu457=) rs1274962675
NM_020549.5(CHAT):c.1381= (p.Val461=) rs4838544
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544
NM_020549.5(CHAT):c.1381G>T (p.Val461Leu) rs4838544
NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr)
NM_020549.5(CHAT):c.1382+18G>A
NM_020549.5(CHAT):c.1382+2_1382+3del
NM_020549.5(CHAT):c.1382+8T>G
NM_020549.5(CHAT):c.1383-16G>T
NM_020549.5(CHAT):c.1383-17T>C
NM_020549.5(CHAT):c.1383-17T>G
NM_020549.5(CHAT):c.1383-1G>A rs2132811750
NM_020549.5(CHAT):c.1383-20G>A
NM_020549.5(CHAT):c.1383-20G>C
NM_020549.5(CHAT):c.1383-2A>G
NM_020549.5(CHAT):c.1383-5C>T
NM_020549.5(CHAT):c.1383-7C>T
NM_020549.5(CHAT):c.1383G>A (p.Val461=)
NM_020549.5(CHAT):c.1386G>T (p.Thr462=)
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1389G>A (p.Gln463=)
NM_020549.5(CHAT):c.138C>A (p.Gly46=)
NM_020549.5(CHAT):c.1398G>A (p.Arg466=)
NM_020549.5(CHAT):c.1401G>A (p.Lys467=) rs1305182651
NM_020549.5(CHAT):c.1404G>A (p.Leu468=)
NM_020549.5(CHAT):c.1408C>A (p.Arg470=) rs142889639
NM_020549.5(CHAT):c.1408C>G (p.Arg470Gly)
NM_020549.5(CHAT):c.1408C>T (p.Arg470Ter) rs142889639
NM_020549.5(CHAT):c.1409G>C (p.Arg470Pro) rs774834313
NM_020549.5(CHAT):c.1410A>C (p.Arg470=)
NM_020549.5(CHAT):c.1414G>A (p.Asp472Asn) rs2132811983
NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)
NM_020549.5(CHAT):c.1419C>A (p.Ser473=) rs200175587
NM_020549.5(CHAT):c.1419del (p.Val474fs)
NM_020549.5(CHAT):c.1420G>C (p.Val474Leu) rs371719364
NM_020549.5(CHAT):c.1425C>A (p.Ser475Arg) rs553771451
NM_020549.5(CHAT):c.1425C>T (p.Ser475=)
NM_020549.5(CHAT):c.1426G>A (p.Glu476Lys)
NM_020549.5(CHAT):c.1435G>A (p.Ala479Thr)
NM_020549.5(CHAT):c.1435G>C (p.Ala479Pro) rs3793795
NM_020549.5(CHAT):c.1435del (p.Ala479fs)
NM_020549.5(CHAT):c.1436C>T (p.Ala479Val) rs1319866298
NM_020549.5(CHAT):c.1437C>T (p.Ala479=) rs2132812100
NM_020549.5(CHAT):c.1438_1444del (p.Pro480fs)
NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg) rs1839799283
NM_020549.5(CHAT):c.1441C>A (p.Arg481=)
NM_020549.5(CHAT):c.1441C>T (p.Arg481Trp) rs751583653
NM_020549.5(CHAT):c.1441del (p.Arg481fs)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.5(CHAT):c.1444dup (p.Arg482fs)
NM_020549.5(CHAT):c.1449G>T (p.Leu483=)
NM_020549.5(CHAT):c.1450C>A (p.Arg484=)
NM_020549.5(CHAT):c.1450C>T (p.Arg484Trp) rs778801148
NM_020549.5(CHAT):c.1455G>A (p.Trp485Ter)
NM_020549.5(CHAT):c.1459T>A (p.Cys487Ser)
NM_020549.5(CHAT):c.1464C>A (p.Ser488=) rs1590611293
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
NM_020549.5(CHAT):c.146dup (p.Gly50fs) rs1838395196
NM_020549.5(CHAT):c.1473T>A (p.Ile491=)
NM_020549.5(CHAT):c.1478G>T (p.Gly493Val) rs1180007688
NM_020549.5(CHAT):c.1479C>A (p.Gly493=)
NM_020549.5(CHAT):c.1481A>C (p.His494Pro) rs1247659665
NM_020549.5(CHAT):c.1482C>T (p.His494=)
NM_020549.5(CHAT):c.1488C>G (p.Ala496=)
NM_020549.5(CHAT):c.1488C>T (p.Ala496=)
NM_020549.5(CHAT):c.1490C>A (p.Ser497Tyr) rs141878259
NM_020549.5(CHAT):c.150C>A (p.Gly50=) rs1275077667
NM_020549.5(CHAT):c.1511+12C>T
NM_020549.5(CHAT):c.1511+13G>T
NM_020549.5(CHAT):c.1511+18C>T
NM_020549.5(CHAT):c.1511+19T>G rs867084609
NM_020549.5(CHAT):c.1511+1G>A
NM_020549.5(CHAT):c.1511+20C>T
NM_020549.5(CHAT):c.1511+2T>A
NM_020549.5(CHAT):c.1511+8T>C
NM_020549.5(CHAT):c.1512-10T>C rs2132820333
NM_020549.5(CHAT):c.1512-10del
NM_020549.5(CHAT):c.1512-12T>C
NM_020549.5(CHAT):c.1512-14T>A
NM_020549.5(CHAT):c.1512-18T>C
NM_020549.5(CHAT):c.1512-20C>A
NM_020549.5(CHAT):c.1539_1542del (p.Tyr514fs)
NM_020549.5(CHAT):c.1541A>G (p.Tyr514Cys)
NM_020549.5(CHAT):c.1542T>A (p.Tyr514Ter)
NM_020549.5(CHAT):c.1544A>T (p.Lys515Met)
NM_020549.5(CHAT):c.156C>G (p.Ala52=)
NM_020549.5(CHAT):c.156_157insA (p.Gly53fs)
NM_020549.5(CHAT):c.157G>C (p.Gly53Arg) rs968331105
NM_020549.5(CHAT):c.1597G>A (p.Ala533Thr)
NM_020549.5(CHAT):c.159G>A (p.Gly53=)
NM_020549.5(CHAT):c.1605C>T (p.Ile535=) rs772695708
NM_020549.5(CHAT):c.1613C>T (p.Ala538Val) rs1839894638
NM_020549.5(CHAT):c.1614C>T (p.Ala538=)
NM_020549.5(CHAT):c.1617C>G (p.Leu539=)
NM_020549.5(CHAT):c.1620dup (p.Leu541fs) rs2132820703
NM_020549.5(CHAT):c.1626C>T (p.Ala542=)
NM_020549.5(CHAT):c.1634+11G>C
NM_020549.5(CHAT):c.1634+17T>G
NM_020549.5(CHAT):c.1634+18G>A
NM_020549.5(CHAT):c.1634+7G>A
NM_020549.5(CHAT):c.1635-12C>T
NM_020549.5(CHAT):c.1635-16C>T
NM_020549.5(CHAT):c.1635-4G>A
NM_020549.5(CHAT):c.1635-5C>T rs776745899
NM_020549.5(CHAT):c.1641_1642delinsCT (p.Arg548Ter)
NM_020549.5(CHAT):c.1650G>A (p.Leu550=)
NM_020549.5(CHAT):c.1651G>C (p.Val551Leu) rs1564493573
NM_020549.5(CHAT):c.1652T>G (p.Val551Gly) rs1554808432
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys) rs757303526
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
NM_020549.5(CHAT):c.1665G>A (p.Glu555=)
NM_020549.5(CHAT):c.166G>C (p.Gly56Arg)
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
NM_020549.5(CHAT):c.1687C>T (p.Gln563Ter)
NM_020549.5(CHAT):c.168C>A (p.Gly56=)
NM_020549.5(CHAT):c.1695A>C (p.Gly565=)
NM_020549.5(CHAT):c.1697G>A (p.Arg566His) rs1411285839
NM_020549.5(CHAT):c.1698C>T (p.Arg566=) rs760452753
NM_020549.5(CHAT):c.1699G>A (p.Val567Met)
NM_020549.5(CHAT):c.1700T>C (p.Val567Ala) rs1839994676
NM_020549.5(CHAT):c.1701G>T (p.Val567=)
NM_020549.5(CHAT):c.1703ACA[1] (p.Asn569del)
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp) rs753652169
NM_020549.5(CHAT):c.1718C>T (p.Ala573Val) rs1839995687
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile) rs1839995781
NM_020549.5(CHAT):c.1727A>T (p.Glu576Val)
NM_020549.5(CHAT):c.1728G>A (p.Glu576=) rs2132830737
NM_020549.5(CHAT):c.1731A>G (p.Ala577=)
NM_020549.5(CHAT):c.1732C>T (p.Leu578=)
NM_020549.5(CHAT):c.1746A>G (p.Arg582=) rs779923095
NM_020549.5(CHAT):c.1749C>T (p.Ala583=)
NM_020549.5(CHAT):c.174C>A (p.Ser58Arg) rs572002174
NM_020549.5(CHAT):c.1764G>A (p.Lys588=)
NM_020549.5(CHAT):c.1767T>C (p.Ala589=)
NM_020549.5(CHAT):c.1776+10G>A
NM_020549.5(CHAT):c.1776+11C>T
NM_020549.5(CHAT):c.1776+12C>T
NM_020549.5(CHAT):c.1776+15A>G
NM_020549.5(CHAT):c.1776+15_1776+17del
NM_020549.5(CHAT):c.1776+16C>A
NM_020549.5(CHAT):c.1776+16C>G
NM_020549.5(CHAT):c.1776+18C>A
NM_020549.5(CHAT):c.1776+7C>A
NM_020549.5(CHAT):c.1776+7C>G
NM_020549.5(CHAT):c.1776+7C>T
NM_020549.5(CHAT):c.1777-11T>C
NM_020549.5(CHAT):c.1777-13G>A
NM_020549.5(CHAT):c.1777-17_1777-16del
NM_020549.5(CHAT):c.1777-20C>A
NM_020549.5(CHAT):c.1777-7T>C
NM_020549.5(CHAT):c.1777G>A (p.Ala593Thr)
NM_020549.5(CHAT):c.177C>T (p.Pro59=)
NM_020549.5(CHAT):c.1782T>C (p.Ser594=)
NM_020549.5(CHAT):c.1785G>A (p.Glu595=)
NM_020549.5(CHAT):c.178C>T (p.His60Tyr)
NM_020549.5(CHAT):c.1794G>T (p.Leu598=)
NM_020549.5(CHAT):c.1795C>T (p.Leu599Phe)
NM_020549.5(CHAT):c.1797C>T (p.Leu599=)
NM_020549.5(CHAT):c.1800G>A (p.Leu600=)
NM_020549.5(CHAT):c.181C>A (p.Pro61Thr) rs923971969
NM_020549.5(CHAT):c.1822A>T (p.Thr608Ser)
NM_020549.5(CHAT):c.1834G>C (p.Val612Leu)
NM_020549.5(CHAT):c.1835T>C (p.Val612Ala) rs1840006246
NM_020549.5(CHAT):c.1838T>C (p.Met613Thr) rs1840006355
NM_020549.5(CHAT):c.1839+12C>T rs1554808562
NM_020549.5(CHAT):c.1839+13G>A
NM_020549.5(CHAT):c.1839+14C>T rs1840007140
NM_020549.5(CHAT):c.1839+3G>A rs1840006511
NM_020549.5(CHAT):c.1840-10A>G
NM_020549.5(CHAT):c.1840-13C>T
NM_020549.5(CHAT):c.1840-14C>G
NM_020549.5(CHAT):c.1840-17T>C
NM_020549.5(CHAT):c.1840-4A>G
NM_020549.5(CHAT):c.1840-7T>C
NM_020549.5(CHAT):c.1843A>G (p.Ile615Val) rs759151717
NM_020549.5(CHAT):c.1848A>T (p.Thr616=)
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.1851G>A (p.Gly617=)
NM_020549.5(CHAT):c.1858A>C (p.Ile620Leu)
NM_020549.5(CHAT):c.1859T>G (p.Ile620Ser) rs2132852411
NM_020549.5(CHAT):c.1860T>A (p.Ile620=)
NM_020549.5(CHAT):c.1863C>A (p.Asp621Glu)
NM_020549.5(CHAT):c.1863C>T (p.Asp621=) rs1590628381
NM_020549.5(CHAT):c.186C>T (p.Arg62=)
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp) rs116097791
NM_020549.5(CHAT):c.1888C>G (p.Leu630Val)
NM_020549.5(CHAT):c.188C>T (p.Ala63Val)
NM_020549.5(CHAT):c.1891G>A (p.Ala631Thr)
NM_020549.5(CHAT):c.1892C>T (p.Ala631Val) rs765840442
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs) rs2132852540
NM_020549.5(CHAT):c.1897del (p.Ala633fs)
NM_020549.5(CHAT):c.1905C>A (p.Cys635Ter)
NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter) rs777684375
NM_020549.5(CHAT):c.1911G>A (p.Glu637=)
NM_020549.5(CHAT):c.1916C>T (p.Pro639Leu)
NM_020549.5(CHAT):c.1917C>T (p.Pro639=)
NM_020549.5(CHAT):c.1918G>A (p.Glu640Lys) rs774403163
NM_020549.5(CHAT):c.1926C>T (p.Phe642=)
NM_020549.5(CHAT):c.1935A>C (p.Glu645Asp) rs775011277
NM_020549.5(CHAT):c.1935A>G (p.Glu645=)
NM_020549.5(CHAT):c.1943T>C (p.Leu648Pro) rs1242281029
NM_020549.5(CHAT):c.1944G>A (p.Leu648=)
NM_020549.5(CHAT):c.1946T>G (p.Met649Arg)
NM_020549.5(CHAT):c.1950C>T (p.Ser650=)
NM_020549.5(CHAT):c.1956G>T (p.Arg652=)
NM_020549.5(CHAT):c.1963C>T (p.Leu655Phe) rs1394460049
NM_020549.5(CHAT):c.1964T>C (p.Leu655Pro) rs2132852977
NM_020549.5(CHAT):c.196C>A (p.Arg66Ser)
NM_020549.5(CHAT):c.1977+10C>T rs781627020
NM_020549.5(CHAT):c.1977+10del rs751847133
NM_020549.5(CHAT):c.1977+11G>A
NM_020549.5(CHAT):c.1977+1_1977+9del rs1207292931
NM_020549.5(CHAT):c.1978-15T>C rs2132858259
NM_020549.5(CHAT):c.1978-1G>A
NM_020549.5(CHAT):c.1978-20T>C
NM_020549.5(CHAT):c.1978-9C>A
NM_020549.5(CHAT):c.1978-9C>G
NM_020549.5(CHAT):c.1980G>A (p.Val660=)
NM_020549.5(CHAT):c.1995G>A (p.Glu665=)
NM_020549.5(CHAT):c.1995G>T (p.Glu665Asp)
NM_020549.5(CHAT):c.1997T>C (p.Met666Thr) rs1485449042
NM_020549.5(CHAT):c.2010T>C (p.Tyr670=)
NM_020549.5(CHAT):c.2013T>C (p.Gly671=)
NM_020549.5(CHAT):c.2016T>C (p.Pro672=)
NM_020549.5(CHAT):c.2019G>A (p.Val673=)
NM_020549.5(CHAT):c.201C>A (p.Pro67=)
NM_020549.5(CHAT):c.2022C>T (p.Val674=)
NM_020549.5(CHAT):c.2025A>G (p.Pro675=)
NM_020549.5(CHAT):c.2039C>T (p.Ala680Val)
NM_020549.5(CHAT):c.2040C>G (p.Ala680=)
NM_020549.5(CHAT):c.2046C>G (p.Tyr682Ter)
NM_020549.5(CHAT):c.2046C>T (p.Tyr682=)
NM_020549.5(CHAT):c.2059G>C (p.Glu687Gln)
NM_020549.5(CHAT):c.2067C>A (p.Ile689=)
NM_020549.5(CHAT):c.206C>A (p.Pro69His) rs1283840204
NM_020549.5(CHAT):c.208del (p.Leu70fs) rs1838400244
NM_020549.5(CHAT):c.2094C>T (p.Ser698=)
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del) rs750942168
NM_020549.5(CHAT):c.2108C>T (p.Ser703Phe) rs1316112613
NM_020549.5(CHAT):c.2117A>G (p.Lys706Arg) rs1286894680
NM_020549.5(CHAT):c.212C>A (p.Pro71Gln) rs1180855605
NM_020549.5(CHAT):c.2151C>T (p.Asp717=)
NM_020549.5(CHAT):c.2166C>T (p.Cys722=)
NM_020549.5(CHAT):c.2169T>C (p.Ser723=)
NM_020549.5(CHAT):c.2172G>T (p.Leu724=)
NM_020549.5(CHAT):c.2180C>A (p.Pro727His) rs1554809701
NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg) rs1840309085
NM_020549.5(CHAT):c.2190C>T (p.Ser730=)
NM_020549.5(CHAT):c.2197T>C (p.Leu733=)
NM_020549.5(CHAT):c.219C>T (p.His73=)
NM_020549.5(CHAT):c.2205A>G (p.Thr735=)
NM_020549.5(CHAT):c.220A>G (p.Thr74Ala) rs1554801418
NM_020549.5(CHAT):c.2219C>A (p.Thr740Lys)
NM_020549.5(CHAT):c.2220G>A (p.Thr740=)
NM_020549.5(CHAT):c.2220G>C (p.Thr740=)
NM_020549.5(CHAT):c.2228G>T (p.Ser743Ile) rs1840310830
NM_020549.5(CHAT):c.2232G>A (p.Gln744=)
NM_020549.5(CHAT):c.2238C>A (p.His746Gln) rs1234288422
NM_020549.5(CHAT):c.2242C>G (p.Pro748Ala)
NM_020549.5(CHAT):c.2244T>G (p.Pro748=)
NM_020549.5(CHAT):c.224C>T (p.Pro75Leu)
NM_020549.5(CHAT):c.225C>A (p.Pro75=)
NM_020549.5(CHAT):c.228C>G (p.Ala76=)
NM_020549.5(CHAT):c.232A>C (p.Thr78Pro) rs1217500618
NM_020549.5(CHAT):c.238G>C (p.Glu80Gln) rs756348058
NM_020549.5(CHAT):c.240G>A (p.Glu80=)
NM_020549.5(CHAT):c.246C>A (p.Cys82Ter) rs1409154681
NM_020549.5(CHAT):c.24G>T (p.Lys8Asn) rs1444707075
NM_020549.5(CHAT):c.250G>T (p.Ala84Ser) rs1338798480
NM_020549.5(CHAT):c.252A>C (p.Ala84=) rs112079336
NM_020549.5(CHAT):c.254C>G (p.Ala85Gly) rs1564469074
NM_020549.5(CHAT):c.255G>A (p.Ala85=)
NM_020549.5(CHAT):c.258G>A (p.Ser86=) rs778636468
NM_020549.5(CHAT):c.261C>G (p.Ala87=)
NM_020549.5(CHAT):c.273G>A (p.Glu91=)
NM_020549.5(CHAT):c.275C>A (p.Pro92Gln) rs372298555
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg) rs372298555
NM_020549.5(CHAT):c.276G>A (p.Pro92=) rs745665140
NM_020549.5(CHAT):c.279G>C (p.Arg93Ser)
NM_020549.5(CHAT):c.27G>A (p.Arg9=)
NM_020549.5(CHAT):c.280A>G (p.Arg94Gly) rs1838405822
NM_020549.5(CHAT):c.282A>G (p.Arg94=) rs2132695418
NM_020549.5(CHAT):c.286+11GGGCT[4]
NM_020549.5(CHAT):c.286+12G>T rs2132695528
NM_020549.5(CHAT):c.286+13G>A
NM_020549.5(CHAT):c.286+13G>T
NM_020549.5(CHAT):c.286+16G>A
NM_020549.5(CHAT):c.286+1G>T
NM_020549.5(CHAT):c.286+20_286+28del
NM_020549.5(CHAT):c.286+9_286+11del
NM_020549.5(CHAT):c.287-10T>C rs770517566
NM_020549.5(CHAT):c.287-12C>T
NM_020549.5(CHAT):c.287-2A>G
NM_020549.5(CHAT):c.287-8G>A
NM_020549.5(CHAT):c.287-9G>C
NM_020549.5(CHAT):c.287G>T (p.Gly96Val) rs1349499470
NM_020549.5(CHAT):c.294C>T (p.His98=)
NM_020549.5(CHAT):c.297C>G (p.Leu99=)
NM_020549.5(CHAT):c.300C>T (p.Cys100=)
NM_020549.5(CHAT):c.306T>C (p.Pro102=)
NM_020549.5(CHAT):c.30G>A (p.Gly10=) rs528479799
NM_020549.5(CHAT):c.30G>C (p.Gly10=)
NM_020549.5(CHAT):c.30G>T (p.Gly10=)
NM_020549.5(CHAT):c.311C>T (p.Pro104Leu) rs2132701987
NM_020549.5(CHAT):c.314G>T (p.Gly105Val)
NM_020549.5(CHAT):c.315A>G (p.Gly105=)
NM_020549.5(CHAT):c.333C>T (p.Ile111=)
NM_020549.5(CHAT):c.335T>G (p.Leu112Arg)
NM_020549.5(CHAT):c.33T>C (p.Leu11=)
NM_020549.5(CHAT):c.345C>A (p.Val115=) rs917815714
NM_020549.5(CHAT):c.349del (p.Arg117fs) rs1198717023
NM_020549.5(CHAT):c.35G>A (p.Gly12Glu) rs770749789
NM_020549.5(CHAT):c.372C>T (p.Pro124=)
NM_020549.5(CHAT):c.378T>C (p.Ser126=) rs2132702237
NM_020549.5(CHAT):c.387+16A>G
NM_020549.5(CHAT):c.387+17G>A
NM_020549.5(CHAT):c.387+9C>T
NM_020549.5(CHAT):c.387T>A (p.Ser129=) rs143723043
NM_020549.5(CHAT):c.388-11C>G
NM_020549.5(CHAT):c.388-11del
NM_020549.5(CHAT):c.388-12C>A
NM_020549.5(CHAT):c.388-12C>T
NM_020549.5(CHAT):c.388-16G>A
NM_020549.5(CHAT):c.388-17T>C
NM_020549.5(CHAT):c.388-18A>G rs1016103413
NM_020549.5(CHAT):c.388-6T>C rs2132710242
NM_020549.5(CHAT):c.399A>G (p.Lys133=)
NM_020549.5(CHAT):c.400C>T (p.Leu134=)
NM_020549.5(CHAT):c.405C>A (p.Pro135=)
NM_020549.5(CHAT):c.405C>G (p.Pro135=)
NM_020549.5(CHAT):c.405C>T (p.Pro135=) rs757344796
NM_020549.5(CHAT):c.411C>T (p.Pro137=) rs764063564
NM_020549.5(CHAT):c.413C>A (p.Pro138Gln) rs557059182
NM_020549.5(CHAT):c.413del (p.Pro138fs)
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter) rs794727516
NM_020549.5(CHAT):c.419A>C (p.Gln140Pro)
NM_020549.5(CHAT):c.420G>A (p.Gln140=)
NM_020549.5(CHAT):c.432C>T (p.Ala144=)
NM_020549.5(CHAT):c.435G>T (p.Thr145=)
NM_020549.5(CHAT):c.439C>T (p.Leu147=) rs1838632986
NM_020549.5(CHAT):c.43G>A (p.Gly15Arg) rs1838388018
NM_020549.5(CHAT):c.441G>A (p.Leu147=)
NM_020549.5(CHAT):c.444G>A (p.Gln148=)
NM_020549.5(CHAT):c.451C>A (p.Arg151=)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.45G>A (p.Gly15=)
NM_020549.5(CHAT):c.45G>C (p.Gly15=)
NM_020549.5(CHAT):c.45del (p.Lys16fs) rs1838387913
NM_020549.5(CHAT):c.461T>G (p.Val154Gly)
NM_020549.5(CHAT):c.463T>A (p.Ser155Thr) rs1838634644
NM_020549.5(CHAT):c.463T>C (p.Ser155Pro) rs1838634644
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter) rs1838635016
NM_020549.5(CHAT):c.476_477delinsAG (p.Phe159Ter) rs1838635262
NM_020549.5(CHAT):c.484A>G (p.Ser162Gly) rs1195682323
NM_020549.5(CHAT):c.486C>A (p.Ser162Arg) rs2132710676
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser) rs776499844
NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn) rs1838636916
NM_020549.5(CHAT):c.512C>T (p.Ala171Val)
NM_020549.5(CHAT):c.516T>C (p.Pro172=)
NM_020549.5(CHAT):c.520G>A (p.Gly174Ser)
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs) rs1404321683
NM_020549.5(CHAT):c.525C>T (p.Leu175=)
NM_020549.5(CHAT):c.526G>A (p.Gly176Ser)
NM_020549.5(CHAT):c.547C>A (p.Leu183Ile)
NM_020549.5(CHAT):c.547C>T (p.Leu183Phe) rs746030420
NM_020549.5(CHAT):c.548T>C (p.Leu183Pro)
NM_020549.5(CHAT):c.550C>T (p.Leu184=)
NM_020549.5(CHAT):c.557G>A (p.Arg186Gln) rs747996335
NM_020549.5(CHAT):c.557G>C (p.Arg186Pro) rs747996335
NM_020549.5(CHAT):c.55A>G (p.Arg19Gly)
NM_020549.5(CHAT):c.579+10G>C
NM_020549.5(CHAT):c.579+18G>T
NM_020549.5(CHAT):c.579+19G>A
NM_020549.5(CHAT):c.579+7G>A
NM_020549.5(CHAT):c.580-11dup
NM_020549.5(CHAT):c.580-16C>T
NM_020549.5(CHAT):c.580-17C>G
NM_020549.5(CHAT):c.580-5G>C
NM_020549.5(CHAT):c.580-8C>T rs1590562931
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.612C>T (p.Leu204=) rs1488503830
NM_020549.5(CHAT):c.614A>G (p.Asn205Ser) rs2132712941
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly) rs760936252
NM_020549.5(CHAT):c.619del (p.Arg207fs)
NM_020549.5(CHAT):c.621C>T (p.Arg207=)
NM_020549.5(CHAT):c.630G>T (p.Leu210=) rs750447540
NM_020549.5(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_020549.5(CHAT):c.640T>G (p.Ser214Ala) rs1378520155
NM_020549.5(CHAT):c.651C>G (p.Ala217=) rs575515952
NM_020549.5(CHAT):c.654G>T (p.Val218=)
NM_020549.5(CHAT):c.657C>T (p.Ile219=)
NM_020549.5(CHAT):c.660T>C (p.Phe220=)
NM_020549.5(CHAT):c.662C>T (p.Ala221Val)
NM_020549.5(CHAT):c.665G>A (p.Arg222Gln) rs8178989
NM_020549.5(CHAT):c.669del (p.Gln223fs) rs1554802808
NM_020549.5(CHAT):c.681C>T (p.Gly227=)
NM_020549.5(CHAT):c.684C>T (p.Thr228=)
NM_020549.5(CHAT):c.693G>A (p.Gln231=)
NM_020549.5(CHAT):c.693G>C (p.Gln231His) rs1838671242
NM_020549.5(CHAT):c.698+10T>C
NM_020549.5(CHAT):c.698+15C>G
NM_020549.5(CHAT):c.698+19T>A
NM_020549.5(CHAT):c.698+1G>A
NM_020549.5(CHAT):c.698+1G>T
NM_020549.5(CHAT):c.698+2T>C
NM_020549.5(CHAT):c.698+7C>T rs1590563362
NM_020549.5(CHAT):c.699-14C>T
NM_020549.5(CHAT):c.699-18C>T
NM_020549.5(CHAT):c.699-4G>T
NM_020549.5(CHAT):c.699-6C>T
NM_020549.5(CHAT):c.699-9T>G rs1207212526
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer) rs1838384543
NM_020549.5(CHAT):c.712C>G (p.Leu238Val)
NM_020549.5(CHAT):c.715A>G (p.Ile239Val)
NM_020549.5(CHAT):c.735C>T (p.Tyr245=)
NM_020549.5(CHAT):c.747G>A (p.Leu249=)
NM_020549.5(CHAT):c.747G>T (p.Leu249=)
NM_020549.5(CHAT):c.752+19T>C
NM_020549.5(CHAT):c.753-10T>C
NM_020549.5(CHAT):c.753-11C>T
NM_020549.5(CHAT):c.753-12C>T
NM_020549.5(CHAT):c.753-13T>C
NM_020549.5(CHAT):c.753-14C>T
NM_020549.5(CHAT):c.753-1G>C
NM_020549.5(CHAT):c.753-2A>T
NM_020549.5(CHAT):c.759C>T (p.Ser253=)
NM_020549.5(CHAT):c.764C>T (p.Pro255Leu) rs2132727930
NM_020549.5(CHAT):c.767C>T (p.Thr256Ile) rs754977595
NM_020549.5(CHAT):c.769G>A (p.Asp257Asn) rs1564475567
NM_020549.5(CHAT):c.771C>T (p.Asp257=)
NM_020549.5(CHAT):c.780A>T (p.Lys260Asn) rs2132727991
NM_020549.5(CHAT):c.781G>A (p.Gly261Ser) rs1838884383
NM_020549.5(CHAT):c.782G>A (p.Gly261Asp) rs2132728015
NM_020549.5(CHAT):c.787C>T (p.Leu263=)
NM_020549.5(CHAT):c.795G>A (p.Gly265=)
NM_020549.5(CHAT):c.800C>T (p.Pro267Leu) rs749662741
NM_020549.5(CHAT):c.806G>T (p.Cys269Phe)
NM_020549.5(CHAT):c.818A>G (p.Tyr273Cys)
NM_020549.5(CHAT):c.819C>T (p.Tyr273=)
NM_020549.5(CHAT):c.822T>C (p.Tyr274=)
NM_020549.5(CHAT):c.825G>A (p.Gly275=)
NM_020549.5(CHAT):c.82A>G (p.Arg28Gly)
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del) rs560648873
NM_020549.5(CHAT):c.834C>T (p.Ser278=) rs775502083
NM_020549.5(CHAT):c.844C>T (p.Leu282Phe)
NM_020549.5(CHAT):c.846C>T (p.Leu282=) rs1213463622
NM_020549.5(CHAT):c.847C>G (p.Pro283Ala)
NM_020549.5(CHAT):c.84G>A (p.Arg28=)
NM_020549.5(CHAT):c.850G>A (p.Gly284Ser)
NM_020549.5(CHAT):c.857C>G (p.Thr286Ser) rs1231575273
NM_020549.5(CHAT):c.85A>C (p.Arg29=) rs772025588
NM_020549.5(CHAT):c.861G>A (p.Gln287=) rs1590572872
NM_020549.5(CHAT):c.869T>C (p.Leu290Pro)
NM_020549.5(CHAT):c.86G>A (p.Arg29Lys) rs1838390973
NM_020549.5(CHAT):c.870G>A (p.Leu290=)
NM_020549.5(CHAT):c.873G>T (p.Val291=)
NM_020549.5(CHAT):c.880_884del (p.Asn294fs)
NM_020549.5(CHAT):c.883A>G (p.Ser295Gly) rs1473934667
NM_020549.5(CHAT):c.895C>T (p.Pro299Ser)
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr) rs75466054
NM_020549.5(CHAT):c.915C>T (p.Ile305=)
NM_020549.5(CHAT):c.916G>C (p.Val306Leu) rs551219437
NM_020549.5(CHAT):c.91G>A (p.Val31Met)
NM_020549.5(CHAT):c.920C>G (p.Ala307Gly) rs748250869
NM_020549.5(CHAT):c.921del (p.Cys308fs)
NM_020549.5(CHAT):c.92T>A (p.Val31Glu) rs1016283273
NM_020549.5(CHAT):c.933+10C>A
NM_020549.5(CHAT):c.933+12C>T
NM_020549.5(CHAT):c.933+16T>C
NM_020549.5(CHAT):c.933+18T>C
NM_020549.5(CHAT):c.933+9C>A
NM_020549.5(CHAT):c.934-15C>T
NM_020549.5(CHAT):c.934-19T>G
NM_020549.5(CHAT):c.934-6C>T
NM_020549.5(CHAT):c.934-7C>T
NM_020549.5(CHAT):c.934-8C>T
NM_020549.5(CHAT):c.93G>T (p.Val31=)
NM_020549.5(CHAT):c.951del (p.Val318fs) rs2132735050
NM_020549.5(CHAT):c.963C>T (p.Phe321=) rs1838967996
NM_020549.5(CHAT):c.966C>T (p.Arg322=)
NM_020549.5(CHAT):c.967C>T (p.Arg323Cys) rs771938918
NM_020549.5(CHAT):c.973A>G (p.Ser325Gly) rs1838968738
NM_020549.5(CHAT):c.976G>A (p.Glu326Lys) rs906778274
NM_020549.5(CHAT):c.981G>A (p.Gly327=)
NM_020549.5(CHAT):c.981G>T (p.Gly327=)
NM_020549.5(CHAT):c.982del (p.Asp328fs) rs1590576560
NM_020549.5(CHAT):c.984T>C (p.Asp328=)
NM_020549.5(CHAT):c.989T>C (p.Phe330Ser) rs1554804021

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