ClinVar Miner

List of variants in gene CHAT reported as likely benign for Familial infantile myasthenia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 478
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00187
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.1174G>A (p.Ala392Thr) rs115877658 0.00056
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+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.1038T>C (p.Arg346=) rs367961073 0.00014
NM_020549.5(CHAT):c.494T>C (p.Ile165Thr) rs148155075 0.00014
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.1419C>T (p.Ser473=) rs200175587 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.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.651C>T (p.Ala217=) rs575515952 0.00010
NM_020549.5(CHAT):c.1494G>A (p.Ser498=) rs139722660 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.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.1671G>A (p.Ala557=) rs777066390 0.00006
NM_020549.5(CHAT):c.1814G>A (p.Arg605His) rs199926163 0.00006
NM_020549.5(CHAT):c.968G>A (p.Arg323His) rs200176236 0.00006
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.156C>T (p.Ala52=) rs1286222980 0.00005
NM_020549.5(CHAT):c.794G>A (p.Gly265Glu) rs777336258 0.00005
NM_020549.5(CHAT):c.1037G>A (p.Arg346His) rs779668516 0.00004
NM_020549.5(CHAT):c.1074G>A (p.Arg358=) rs371905802 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.1971T>C (p.Thr657=) rs368254411 0.00004
NM_020549.5(CHAT):c.287-4C>G rs779267880 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.1068C>T (p.Asp356=) rs748193892 0.00003
NM_020549.5(CHAT):c.1281+8G>A rs376227674 0.00003
NM_020549.5(CHAT):c.1656C>T (p.Pro552=) rs1268229300 0.00003
NM_020549.5(CHAT):c.2183C>T (p.Thr728Ile) rs74334349 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.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.1227C>T (p.His409=) rs578201320 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.18G>A (p.Ala6=) rs1348352777 0.00002
NM_020549.5(CHAT):c.1992G>A (p.Thr664=) rs767717703 0.00002
NM_020549.5(CHAT):c.258G>C (p.Ser86=) rs778636468 0.00002
NM_020549.5(CHAT):c.350G>A (p.Arg117His) rs376641216 0.00002
NM_020549.5(CHAT):c.462G>A (p.Val154=) rs771258646 0.00002
NM_020549.5(CHAT):c.492C>T (p.Ala164=) rs746798016 0.00002
NM_020549.5(CHAT):c.864C>T (p.Asp288=) rs766217426 0.00002
NM_020549.5(CHAT):c.897G>A (p.Pro299=) rs756942813 0.00002
NM_020549.5(CHAT):c.1044T>A (p.Pro348=) rs200009054 0.00001
NM_020549.5(CHAT):c.1098G>A (p.Thr366=) rs780860401 0.00001
NM_020549.5(CHAT):c.1281+7C>T rs776458664 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.1434C>T (p.Pro478=) rs1322638546 0.00001
NM_020549.5(CHAT):c.1485A>G (p.Leu495=) rs151031033 0.00001
NM_020549.5(CHAT):c.1497A>G (p.Ala499=) rs752844751 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.1530C>T (p.Asp510=) rs558298529 0.00001
NM_020549.5(CHAT):c.1662C>T (p.Tyr554=) rs145370753 0.00001
NM_020549.5(CHAT):c.180C>T (p.His60=) rs991244716 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.1968C>T (p.Ser656=) rs1303365039 0.00001
NM_020549.5(CHAT):c.198C>T (p.Arg66=) rs1230433889 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.2112T>C (p.Ser704=) rs1316813571 0.00001
NM_020549.5(CHAT):c.222C>T (p.Thr74=) rs767600029 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.357G>A (p.Met119Ile) rs759310217 0.00001
NM_020549.5(CHAT):c.393G>T (p.Leu131=) rs769827861 0.00001
NM_020549.5(CHAT):c.528C>T (p.Gly176=) rs778476300 0.00001
NM_020549.5(CHAT):c.534C>T (p.Thr178=) rs1838639286 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.657C>A (p.Ile219=) rs1280679259 0.00001
NM_020549.5(CHAT):c.798G>A (p.Gln266=) rs142237923 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.1023C>G (p.Ser341=)
NM_020549.5(CHAT):c.1041G>A (p.Leu347=)
NM_020549.5(CHAT):c.1050T>C (p.Ile350=)
NM_020549.5(CHAT):c.1077C>T (p.Ser359=)
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.1104C>T (p.Leu368=)
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.1112-12C>T
NM_020549.5(CHAT):c.1112-14T>C
NM_020549.5(CHAT):c.1112-16C>T
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.1132C>T (p.Leu378=)
NM_020549.5(CHAT):c.1137C>T (p.Asp379=)
NM_020549.5(CHAT):c.1167C>T (p.Cys389=)
NM_020549.5(CHAT):c.1176G>A (p.Ala392=)
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.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.1230C>A (p.Gly410=)
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.1251G>C (p.Gly417=)
NM_020549.5(CHAT):c.1254C>T (p.Ala418=)
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.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.1282-4G>A
NM_020549.5(CHAT):c.1299C>T (p.Asp433=)
NM_020549.5(CHAT):c.1326C>T (p.His442=)
NM_020549.5(CHAT):c.1335C>T (p.Phe445=) rs752229820
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.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.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.1377G>A (p.Lys459=)
NM_020549.5(CHAT):c.1382+18G>A
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.1383-20G>A
NM_020549.5(CHAT):c.1383-20G>C
NM_020549.5(CHAT):c.1383-5C>T
NM_020549.5(CHAT):c.1383-7C>T
NM_020549.5(CHAT):c.1386G>T (p.Thr462=)
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.1410A>C (p.Arg470=)
NM_020549.5(CHAT):c.1419C>A (p.Ser473=) rs200175587
NM_020549.5(CHAT):c.1425C>T (p.Ser475=)
NM_020549.5(CHAT):c.1437C>T (p.Ala479=) rs2132812100
NM_020549.5(CHAT):c.1441C>A (p.Arg481=)
NM_020549.5(CHAT):c.1449G>T (p.Leu483=)
NM_020549.5(CHAT):c.1450C>A (p.Arg484=)
NM_020549.5(CHAT):c.1464C>A (p.Ser488=) rs1590611293
NM_020549.5(CHAT):c.1473T>A (p.Ile491=)
NM_020549.5(CHAT):c.1479C>A (p.Gly493=)
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.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+20C>T
NM_020549.5(CHAT):c.1511+8T>C
NM_020549.5(CHAT):c.1512-10T>C rs2132820333
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.1512-5C>T
NM_020549.5(CHAT):c.1518A>G (p.Val506=)
NM_020549.5(CHAT):c.156C>G (p.Ala52=)
NM_020549.5(CHAT):c.159G>A (p.Gly53=)
NM_020549.5(CHAT):c.1605C>T (p.Ile535=) rs772695708
NM_020549.5(CHAT):c.1614C>T (p.Ala538=)
NM_020549.5(CHAT):c.1617C>G (p.Leu539=)
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.1635-13T>C
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.1650G>A (p.Leu550=)
NM_020549.5(CHAT):c.1665G>A (p.Glu555=)
NM_020549.5(CHAT):c.168C>A (p.Gly56=)
NM_020549.5(CHAT):c.1695A>C (p.Gly565=)
NM_020549.5(CHAT):c.1698C>T (p.Arg566=) rs760452753
NM_020549.5(CHAT):c.1701G>T (p.Val567=)
NM_020549.5(CHAT):c.1725A>C (p.Pro575=)
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.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.1777-12T>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.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.1794G>T (p.Leu598=)
NM_020549.5(CHAT):c.1797C>T (p.Leu599=)
NM_020549.5(CHAT):c.1800G>A (p.Leu600=)
NM_020549.5(CHAT):c.1827A>G (p.Ala609=)
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.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.1848A>T (p.Thr616=)
NM_020549.5(CHAT):c.1851G>A (p.Gly617=)
NM_020549.5(CHAT):c.1860T>A (p.Ile620=)
NM_020549.5(CHAT):c.1863C>T (p.Asp621=) rs1590628381
NM_020549.5(CHAT):c.186C>T (p.Arg62=)
NM_020549.5(CHAT):c.1911G>A (p.Glu637=)
NM_020549.5(CHAT):c.1917C>T (p.Pro639=)
NM_020549.5(CHAT):c.1926C>T (p.Phe642=)
NM_020549.5(CHAT):c.1935A>G (p.Glu645=)
NM_020549.5(CHAT):c.1944G>A (p.Leu648=)
NM_020549.5(CHAT):c.1950C>T (p.Ser650=)
NM_020549.5(CHAT):c.1956G>T (p.Arg652=)
NM_020549.5(CHAT):c.195A>T (p.Thr65=)
NM_020549.5(CHAT):c.1977+10C>T rs781627020
NM_020549.5(CHAT):c.1977+11G>A
NM_020549.5(CHAT):c.1977+15A>G
NM_020549.5(CHAT):c.1977+7C>G rs1590628697
NM_020549.5(CHAT):c.1978-15T>C rs2132858259
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.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.2040C>G (p.Ala680=)
NM_020549.5(CHAT):c.2046C>T (p.Tyr682=)
NM_020549.5(CHAT):c.2067C>A (p.Ile689=)
NM_020549.5(CHAT):c.2091C>T (p.His697=)
NM_020549.5(CHAT):c.2094C>T (p.Ser698=)
NM_020549.5(CHAT):c.2106T>G (p.Thr702=)
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.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.2220G>A (p.Thr740=)
NM_020549.5(CHAT):c.2220G>C (p.Thr740=)
NM_020549.5(CHAT):c.222C>A (p.Thr74=)
NM_020549.5(CHAT):c.2232G>A (p.Gln744=)
NM_020549.5(CHAT):c.2242C>G (p.Pro748Ala)
NM_020549.5(CHAT):c.2244T>G (p.Pro748=)
NM_020549.5(CHAT):c.225C>A (p.Pro75=)
NM_020549.5(CHAT):c.228C>G (p.Ala76=)
NM_020549.5(CHAT):c.240G>A (p.Glu80=)
NM_020549.5(CHAT):c.252A>C (p.Ala84=) rs112079336
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>G (p.Pro92Arg) rs372298555
NM_020549.5(CHAT):c.276G>A (p.Pro92=) rs745665140
NM_020549.5(CHAT):c.27G>A (p.Arg9=)
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+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.287-8G>A
NM_020549.5(CHAT):c.287-9G>C
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.315A>G (p.Gly105=)
NM_020549.5(CHAT):c.333C>T (p.Ile111=)
NM_020549.5(CHAT):c.33T>C (p.Leu11=)
NM_020549.5(CHAT):c.345C>A (p.Val115=) rs917815714
NM_020549.5(CHAT):c.354G>A (p.Lys118=)
NM_020549.5(CHAT):c.363A>G (p.Ala121=)
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.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>A (p.Pro137=)
NM_020549.5(CHAT):c.411C>T (p.Pro137=) rs764063564
NM_020549.5(CHAT):c.420G>A (p.Gln140=)
NM_020549.5(CHAT):c.42G>A (p.Gly14=)
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.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.45G>A (p.Gly15=)
NM_020549.5(CHAT):c.45G>C (p.Gly15=)
NM_020549.5(CHAT):c.516T>C (p.Pro172=)
NM_020549.5(CHAT):c.525C>T (p.Leu175=)
NM_020549.5(CHAT):c.550C>T (p.Leu184=)
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.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.612C>T (p.Leu204=) rs1488503830
NM_020549.5(CHAT):c.621C>T (p.Arg207=)
NM_020549.5(CHAT):c.630G>T (p.Leu210=) rs750447540
NM_020549.5(CHAT):c.642C>T (p.Ser214=)
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.665G>A (p.Arg222Gln) rs8178989
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.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+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.714C>T (p.Leu238=)
NM_020549.5(CHAT):c.735C>T (p.Tyr245=)
NM_020549.5(CHAT):c.741C>T (p.Ala247=)
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.759C>T (p.Ser253=)
NM_020549.5(CHAT):c.75A>G (p.Thr25=)
NM_020549.5(CHAT):c.771C>T (p.Asp257=)
NM_020549.5(CHAT):c.787C>T (p.Leu263=)
NM_020549.5(CHAT):c.795G>A (p.Gly265=)
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.833CCT[1] (p.Ser279del) rs560648873
NM_020549.5(CHAT):c.834C>T (p.Ser278=) rs775502083
NM_020549.5(CHAT):c.837C>T (p.Ser279=)
NM_020549.5(CHAT):c.846C>T (p.Leu282=) rs1213463622
NM_020549.5(CHAT):c.84G>A (p.Arg28=)
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.870G>A (p.Leu290=)
NM_020549.5(CHAT):c.873G>T (p.Val291=)
NM_020549.5(CHAT):c.915C>T (p.Ile305=)
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.963C>T (p.Phe321=) rs1838967996
NM_020549.5(CHAT):c.966C>T (p.Arg322=)
NM_020549.5(CHAT):c.981G>A (p.Gly327=)
NM_020549.5(CHAT):c.981G>T (p.Gly327=)
NM_020549.5(CHAT):c.984T>C (p.Asp328=)

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