ClinVar Miner

List of variants studied for Epilepsy, familial adult myoclonic, 5

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ClinVar version:
Total variants: 732
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu) rs2229866 0.36917
NM_005076.5(CNTN2):c.2628C>T (p.Ser876=) rs2229868 0.29618
NM_005076.5(CNTN2):c.433G>A (p.Ala145Thr) rs2275697 0.17435
NM_005076.5(CNTN2):c.2431+20C>A rs4951165 0.10123
NM_005076.5(CNTN2):c.3070G>A (p.Val1024Ile) rs17416074 0.05322
NM_005076.5(CNTN2):c.297C>T (p.Asn99=) rs9787172 0.05116
NM_005076.5(CNTN2):c.486A>C (p.Pro162=) rs114050151 0.04775
NM_005076.5(CNTN2):c.1309C>G (p.Leu437Val) rs79431021 0.03702
NM_005076.5(CNTN2):c.391+12G>A rs16855012 0.01337
NM_005076.5(CNTN2):c.178G>A (p.Ala60Thr) rs12076297 0.01264
NM_005076.5(CNTN2):c.2922T>G (p.Pro974=) rs116036521 0.01076
NM_005076.5(CNTN2):c.1516C>A (p.Arg506=) rs114903768 0.01070
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp) rs41264871 0.00788
NM_005076.5(CNTN2):c.947C>T (p.Thr316Ile) rs139732336 0.00468
NM_005076.5(CNTN2):c.2583G>A (p.Ala861=) rs115143667 0.00374
NM_005076.5(CNTN2):c.2845-12T>C rs74139115 0.00275
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) rs142502980 0.00224
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=) rs145911280 0.00202
NM_005076.5(CNTN2):c.105C>T (p.Phe35=) rs147074435 0.00182
NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu) rs145352110 0.00182
NM_005076.5(CNTN2):c.1896C>T (p.Phe632=) rs145918837 0.00178
NM_005076.5(CNTN2):c.2545-12C>T rs201687043 0.00175
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg) rs144056952 0.00082
NM_005076.5(CNTN2):c.1695G>A (p.Val565=) rs148801784 0.00066
NM_005076.5(CNTN2):c.3085G>A (p.Val1029Met) rs139534426 0.00054
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_005076.5(CNTN2):c.223A>G (p.Met75Val) rs144767577 0.00047
NM_005076.5(CNTN2):c.63C>T (p.Ser21=) rs149630443 0.00045
NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu) rs114879710 0.00038
NM_005076.5(CNTN2):c.2835C>T (p.Thr945=) rs141466578 0.00035
NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp) rs149564430 0.00034
NM_005076.5(CNTN2):c.2469G>A (p.Gly823=) rs138090348 0.00031
NM_005076.5(CNTN2):c.487+20C>A rs201600070 0.00031
NM_005076.5(CNTN2):c.2125+8T>A rs572060537 0.00027
NM_005076.5(CNTN2):c.2544+3G>A rs372920039 0.00025
NM_005076.5(CNTN2):c.1706T>C (p.Ile569Thr) rs372229713 0.00019
NM_005076.5(CNTN2):c.2844+11A>C rs377297728 0.00019
NM_005076.5(CNTN2):c.3013+6G>C rs781436489 0.00017
NM_005076.5(CNTN2):c.391+13G>A rs200725113 0.00017
NM_005076.5(CNTN2):c.1755C>T (p.Tyr585=) rs575768659 0.00016
NM_005076.5(CNTN2):c.1820C>T (p.Pro607Leu) rs140570612 0.00016
NM_005076.5(CNTN2):c.2514G>A (p.Gln838=) rs144293383 0.00015
NM_005076.5(CNTN2):c.2677C>T (p.Arg893Trp) rs149814483 0.00014
NM_005076.5(CNTN2):c.1215C>T (p.Tyr405=) rs764907069 0.00013
NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser) rs191357187 0.00013
NM_005076.5(CNTN2):c.1295G>A (p.Arg432His) rs200098924 0.00011
NM_005076.5(CNTN2):c.1367C>T (p.Thr456Met) rs770143299 0.00011
NM_005076.5(CNTN2):c.2629G>A (p.Gly877Ser) rs146145490 0.00011
NM_005076.5(CNTN2):c.821G>A (p.Arg274His) rs200893856 0.00011
NM_005076.5(CNTN2):c.1344C>T (p.Ala448=) rs778178054 0.00010
NM_005076.5(CNTN2):c.1738C>T (p.Arg580Cys) rs185787873 0.00010
NM_005076.5(CNTN2):c.2760C>T (p.Ser920=) rs201621031 0.00010
NM_005076.5(CNTN2):c.537G>C (p.Thr179=) rs143379833 0.00010
NM_005076.5(CNTN2):c.1519+10G>A rs193063011 0.00009
NM_005076.5(CNTN2):c.1602C>T (p.His534=) rs760905192 0.00009
NM_005076.5(CNTN2):c.2464A>C (p.Lys822Gln) rs141428194 0.00009
NM_005076.5(CNTN2):c.424C>T (p.Pro142Ser) rs143259493 0.00009
NM_005076.5(CNTN2):c.1653C>T (p.Ile551=) rs147493920 0.00008
NM_005076.5(CNTN2):c.1758G>A (p.Thr586=) rs188155444 0.00008
NM_005076.5(CNTN2):c.2985T>C (p.Pro995=) rs138239566 0.00008
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr) rs752262787 0.00007
NM_005076.5(CNTN2):c.2649G>A (p.Lys883=) rs772173976 0.00007
NM_005076.5(CNTN2):c.731G>A (p.Arg244Gln) rs774885705 0.00007
NM_005076.5(CNTN2):c.843C>T (p.Ser281=) rs150754227 0.00007
NM_005076.5(CNTN2):c.846G>A (p.Pro282=) rs180849149 0.00007
NM_005076.5(CNTN2):c.1114C>T (p.Arg372Trp) rs538644037 0.00006
NM_005076.5(CNTN2):c.1316C>A (p.Pro439His) rs761643020 0.00006
NM_005076.5(CNTN2):c.1397C>T (p.Thr466Ile) rs145344980 0.00006
NM_005076.5(CNTN2):c.1641C>T (p.Asp547=) rs150567846 0.00006
NM_005076.5(CNTN2):c.1655A>G (p.Asp552Gly) rs375531151 0.00006
NM_005076.5(CNTN2):c.1739G>A (p.Arg580His) rs200242849 0.00006
NM_005076.5(CNTN2):c.1787C>T (p.Ala596Val) rs578081549 0.00006
NM_005076.5(CNTN2):c.186C>T (p.Arg62=) rs762058787 0.00006
NM_005076.5(CNTN2):c.1976-14C>G rs377135513 0.00006
NM_005076.5(CNTN2):c.1986C>A (p.Asn662Lys) rs140020952 0.00006
NM_005076.5(CNTN2):c.238A>G (p.Met80Val) rs776309126 0.00006
NM_005076.5(CNTN2):c.2432-12A>G rs750433164 0.00006
NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn) rs201107921 0.00006
NM_005076.5(CNTN2):c.388G>A (p.Gly130Ser) rs368353579 0.00006
NM_005076.5(CNTN2):c.703C>T (p.Arg235Trp) rs747208674 0.00006
NM_005076.5(CNTN2):c.704G>A (p.Arg235Gln) rs2229867 0.00006
NM_005076.5(CNTN2):c.786C>T (p.Phe262=) rs369368742 0.00006
NM_005076.5(CNTN2):c.1572C>A (p.Asp524Glu) rs148062265 0.00005
NM_005076.5(CNTN2):c.1676A>G (p.His559Arg) rs747131553 0.00005
NM_005076.5(CNTN2):c.1915G>A (p.Ala639Thr) rs562711151 0.00005
NM_005076.5(CNTN2):c.2228G>C (p.Gly743Ala) rs746291684 0.00005
NM_005076.5(CNTN2):c.235G>A (p.Glu79Lys) rs377098737 0.00005
NM_005076.5(CNTN2):c.261T>C (p.Arg87=) rs767771094 0.00005
NM_005076.5(CNTN2):c.2686A>T (p.Thr896Ser) rs201649365 0.00005
NM_005076.5(CNTN2):c.2711A>G (p.Asn904Ser) rs149058423 0.00005
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln) rs373583840 0.00005
NM_005076.5(CNTN2):c.609C>T (p.Gly203=) rs762080946 0.00005
NM_005076.5(CNTN2):c.699T>C (p.Asp233=) rs370282258 0.00005
NM_005076.5(CNTN2):c.967G>A (p.Val323Met) rs369483636 0.00005
NM_005076.5(CNTN2):c.974-12G>C rs201080048 0.00005
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961 0.00004
NM_005076.5(CNTN2):c.1147T>C (p.Ser383Pro) rs377487667 0.00004
NM_005076.5(CNTN2):c.1226A>T (p.Glu409Val) rs749341276 0.00004
NM_005076.5(CNTN2):c.1241-3T>C rs200577280 0.00004
NM_005076.5(CNTN2):c.1315C>G (p.Pro439Ala) rs369127731 0.00004
NM_005076.5(CNTN2):c.1324C>A (p.Pro442Thr) rs371470696 0.00004
NM_005076.5(CNTN2):c.1368G>A (p.Thr456=) rs139907473 0.00004
NM_005076.5(CNTN2):c.1391+7C>A rs748759051 0.00004
NM_005076.5(CNTN2):c.1392-6C>T rs749779814 0.00004
NM_005076.5(CNTN2):c.1425A>G (p.Ile475Met) rs149065585 0.00004
NM_005076.5(CNTN2):c.1728C>T (p.Asn576=) rs766092588 0.00004
NM_005076.5(CNTN2):c.1773G>A (p.Thr591=) rs760280337 0.00004
NM_005076.5(CNTN2):c.1788G>A (p.Ala596=) rs151320977 0.00004
NM_005076.5(CNTN2):c.185G>A (p.Arg62His) rs772280387 0.00004
NM_005076.5(CNTN2):c.191G>A (p.Arg64Gln) rs199539011 0.00004
NM_005076.5(CNTN2):c.2001C>T (p.Ala667=) rs1307242710 0.00004
NM_005076.5(CNTN2):c.215G>A (p.Arg72Gln) rs145070278 0.00004
NM_005076.5(CNTN2):c.2196+5G>A rs747164379 0.00004
NM_005076.5(CNTN2):c.2614A>C (p.Ser872Arg) rs1040215071 0.00004
NM_005076.5(CNTN2):c.271G>A (p.Val91Met) rs756428097 0.00004
NM_005076.5(CNTN2):c.2893G>A (p.Gly965Ser) rs558282228 0.00004
NM_005076.5(CNTN2):c.3084C>T (p.Ser1028=) rs374947887 0.00004
NM_005076.5(CNTN2):c.318C>T (p.Ala106=) rs372422500 0.00004
NM_005076.5(CNTN2):c.488-5C>T rs928434851 0.00004
NM_005076.5(CNTN2):c.534G>A (p.Pro178=) rs151020999 0.00004
NM_005076.5(CNTN2):c.536C>T (p.Thr179Met) rs376459307 0.00004
NM_005076.5(CNTN2):c.689C>T (p.Ala230Val) rs138454536 0.00004
NM_005076.5(CNTN2):c.831C>T (p.Asp277=) rs199743054 0.00004
NM_005076.5(CNTN2):c.867C>T (p.Pro289=) rs143847367 0.00004
NM_005076.5(CNTN2):c.912C>T (p.Tyr304=) rs762026633 0.00004
NM_005076.5(CNTN2):c.1002G>A (p.Ser334=) rs766457094 0.00003
NM_005076.5(CNTN2):c.1034G>A (p.Arg345His) rs752079019 0.00003
NM_005076.5(CNTN2):c.1110+10A>G rs775868225 0.00003
NM_005076.5(CNTN2):c.1110+19C>G rs752064350 0.00003
NM_005076.5(CNTN2):c.1221C>T (p.Ser407=) rs774139246 0.00003
NM_005076.5(CNTN2):c.1240+18G>T rs200630793 0.00003
NM_005076.5(CNTN2):c.1294C>T (p.Arg432Cys) rs531063248 0.00003
NM_005076.5(CNTN2):c.1441T>C (p.Ser481Pro) rs1362090710 0.00003
NM_005076.5(CNTN2):c.169G>A (p.Val57Met) rs374208965 0.00003
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=) rs200403480 0.00003
NM_005076.5(CNTN2):c.1751A>G (p.Lys584Arg) rs371269837 0.00003
NM_005076.5(CNTN2):c.1860C>T (p.Gly620=) rs149350213 0.00003
NM_005076.5(CNTN2):c.1914C>T (p.Ile638=) rs1193381104 0.00003
NM_005076.5(CNTN2):c.1936C>T (p.Arg646Cys) rs771294491 0.00003
NM_005076.5(CNTN2):c.2037G>A (p.Met679Ile) rs376343938 0.00003
NM_005076.5(CNTN2):c.2126-16C>T rs202038605 0.00003
NM_005076.5(CNTN2):c.215+12G>A rs769149441 0.00003
NM_005076.5(CNTN2):c.215+6G>C rs370377460 0.00003
NM_005076.5(CNTN2):c.2340C>G (p.Pro780=) rs975647789 0.00003
NM_005076.5(CNTN2):c.2880G>A (p.Thr960=) rs1201954383 0.00003
NM_005076.5(CNTN2):c.2902T>C (p.Trp968Arg) rs770455192 0.00003
NM_005076.5(CNTN2):c.2934C>A (p.Gly978=) rs138851018 0.00003
NM_005076.5(CNTN2):c.3047G>A (p.Arg1016His) rs554176359 0.00003
NM_005076.5(CNTN2):c.3089C>T (p.Ala1030Val) rs771548059 0.00003
NM_005076.5(CNTN2):c.3110C>T (p.Ser1037Phe) rs372411999 0.00003
NM_005076.5(CNTN2):c.500G>A (p.Arg167His) rs773067015 0.00003
NM_005076.5(CNTN2):c.513C>T (p.Asn171=) rs371187600 0.00003
NM_005076.5(CNTN2):c.697+20G>A rs906628634 0.00003
NM_005076.5(CNTN2):c.923C>T (p.Ala308Val) rs370834023 0.00003
NM_005076.5(CNTN2):c.1033C>T (p.Arg345Cys) rs764472036 0.00002
NM_005076.5(CNTN2):c.1050C>T (p.Ala350=) rs142610365 0.00002
NM_005076.5(CNTN2):c.1233C>T (p.Ala411=) rs748305651 0.00002
NM_005076.5(CNTN2):c.1290G>A (p.Ala430=) rs748381947 0.00002
NM_005076.5(CNTN2):c.134G>A (p.Ser45Asn) rs779928603 0.00002
NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp) rs200089665 0.00002
NM_005076.5(CNTN2):c.1439G>A (p.Arg480Gln) rs538046968 0.00002
NM_005076.5(CNTN2):c.1517G>A (p.Arg506Gln) rs561892323 0.00002
NM_005076.5(CNTN2):c.159G>A (p.Thr53=) rs907497961 0.00002
NM_005076.5(CNTN2):c.1608C>T (p.Pro536=) rs771101678 0.00002
NM_005076.5(CNTN2):c.1696-8G>A rs766657667 0.00002
NM_005076.5(CNTN2):c.2002G>A (p.Glu668Lys) rs751783360 0.00002
NM_005076.5(CNTN2):c.2050C>T (p.Arg684Trp) rs756558390 0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_005076.5(CNTN2):c.216-9C>T rs577845981 0.00002
NM_005076.5(CNTN2):c.2201T>C (p.Met734Thr) rs749174452 0.00002
NM_005076.5(CNTN2):c.2380C>T (p.Arg794Cys) rs771474325 0.00002
NM_005076.5(CNTN2):c.2474C>T (p.Ser825Leu) rs965462537 0.00002
NM_005076.5(CNTN2):c.2545-20G>T rs749089664 0.00002
NM_005076.5(CNTN2):c.2549G>A (p.Arg850His) rs548681626 0.00002
NM_005076.5(CNTN2):c.2713G>A (p.Ala905Thr) rs778395637 0.00002
NM_005076.5(CNTN2):c.2736G>A (p.Pro912=) rs746965528 0.00002
NM_005076.5(CNTN2):c.2845-5C>T rs1239961379 0.00002
NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met) rs752800918 0.00002
NM_005076.5(CNTN2):c.2964G>A (p.Gly988=) rs566959580 0.00002
NM_005076.5(CNTN2):c.3038T>C (p.Met1013Thr) rs909612337 0.00002
NM_005076.5(CNTN2):c.3092T>C (p.Met1031Thr) rs1401995560 0.00002
NM_005076.5(CNTN2):c.3117G>T (p.Glu1039Asp) rs1232718150 0.00002
NM_005076.5(CNTN2):c.358G>A (p.Val120Ile) rs1424524492 0.00002
NM_005076.5(CNTN2):c.391+11C>T rs750562954 0.00002
NM_005076.5(CNTN2):c.392-14G>T rs148381903 0.00002
NM_005076.5(CNTN2):c.419G>A (p.Arg140Gln) rs768629152 0.00002
NM_005076.5(CNTN2):c.552C>T (p.Phe184=) rs777614226 0.00002
NM_005076.5(CNTN2):c.70+16T>A rs1212916132 0.00002
NM_005076.5(CNTN2):c.71-6C>T rs749400715 0.00002
NM_005076.5(CNTN2):c.808C>T (p.Arg270Trp) rs781526005 0.00002
NM_005076.5(CNTN2):c.845C>T (p.Pro282Leu) rs778415451 0.00002
NM_005076.5(CNTN2):c.850T>C (p.Trp284Arg) rs1340726271 0.00002
NM_005076.5(CNTN2):c.854C>T (p.Thr285Ile) rs772963027 0.00002
NM_005076.5(CNTN2):c.958C>T (p.Arg320Cys) rs759368493 0.00002
NM_005076.5(CNTN2):c.1028A>G (p.Asn343Ser) rs758929116 0.00001
NM_005076.5(CNTN2):c.1035T>C (p.Arg345=) rs373583007 0.00001
NM_005076.5(CNTN2):c.1053C>T (p.Ala351=) rs140963950 0.00001
NM_005076.5(CNTN2):c.1071A>T (p.Thr357=) rs1340324829 0.00001
NM_005076.5(CNTN2):c.1076G>A (p.Arg359His) rs141879956 0.00001
NM_005076.5(CNTN2):c.1111-11C>T rs765974056 0.00001
NM_005076.5(CNTN2):c.1115G>A (p.Arg372Gln) rs1223229519 0.00001
NM_005076.5(CNTN2):c.1125G>A (p.Val375=) rs758300776 0.00001
NM_005076.5(CNTN2):c.1141C>T (p.Arg381Trp) rs558556897 0.00001
NM_005076.5(CNTN2):c.1142G>A (p.Arg381Gln) rs749478140 0.00001
NM_005076.5(CNTN2):c.1173C>A (p.Gly391=) rs370344142 0.00001
NM_005076.5(CNTN2):c.1174A>G (p.Met392Val) rs1654045217 0.00001
NM_005076.5(CNTN2):c.1192G>C (p.Glu398Gln) rs761256115 0.00001
NM_005076.5(CNTN2):c.1225G>A (p.Glu409Lys) rs1332074487 0.00001
NM_005076.5(CNTN2):c.1238A>G (p.Gln413Arg) rs558496903 0.00001
NM_005076.5(CNTN2):c.1240+8G>A rs773641285 0.00001
NM_005076.5(CNTN2):c.1241-1G>C rs1553345874 0.00001
NM_005076.5(CNTN2):c.1277G>A (p.Arg426His) rs143340514 0.00001
NM_005076.5(CNTN2):c.1289C>T (p.Ala430Val) rs145944891 0.00001
NM_005076.5(CNTN2):c.1293C>T (p.Ala431=) rs1173989105 0.00001
NM_005076.5(CNTN2):c.1296C>T (p.Arg432=) rs781749087 0.00001
NM_005076.5(CNTN2):c.1302A>T (p.Gly434=) rs1346381795 0.00001
NM_005076.5(CNTN2):c.1345G>A (p.Val449Met) rs553631482 0.00001
NM_005076.5(CNTN2):c.1347G>A (p.Val449=) rs781410852 0.00001
NM_005076.5(CNTN2):c.1391+13C>T rs761450268 0.00001
NM_005076.5(CNTN2):c.1391+15C>T rs569433119 0.00001
NM_005076.5(CNTN2):c.1481T>C (p.Met494Thr) rs1654184527 0.00001
NM_005076.5(CNTN2):c.1495A>G (p.Ser499Gly) rs1040227835 0.00001
NM_005076.5(CNTN2):c.1554C>T (p.Ala518=) rs769684489 0.00001
NM_005076.5(CNTN2):c.1555G>A (p.Asp519Asn) rs779907671 0.00001
NM_005076.5(CNTN2):c.1567G>A (p.Gly523Ser) rs1168168259 0.00001
NM_005076.5(CNTN2):c.1578G>A (p.Leu526=) rs998708044 0.00001
NM_005076.5(CNTN2):c.158C>T (p.Thr53Met) rs369804751 0.00001
NM_005076.5(CNTN2):c.1695+7C>T rs1433018634 0.00001
NM_005076.5(CNTN2):c.1743T>G (p.His581Gln) rs1446657575 0.00001
NM_005076.5(CNTN2):c.1814G>A (p.Arg605Gln) rs762910235 0.00001
NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys) rs763492479 0.00001
NM_005076.5(CNTN2):c.1856T>C (p.Ile619Thr) rs748659639 0.00001
NM_005076.5(CNTN2):c.1878C>A (p.Leu626=) rs1486789598 0.00001
NM_005076.5(CNTN2):c.1970G>A (p.Arg657Gln) rs761837860 0.00001
NM_005076.5(CNTN2):c.1980T>C (p.Pro660=) rs760622164 0.00001
NM_005076.5(CNTN2):c.198C>T (p.Ser66=) rs1653745328 0.00001
NM_005076.5(CNTN2):c.2019G>T (p.Leu673=) rs776431413 0.00001
NM_005076.5(CNTN2):c.208A>T (p.Thr70Ser) rs555512649 0.00001
NM_005076.5(CNTN2):c.2104A>G (p.Lys702Glu) rs149762176 0.00001
NM_005076.5(CNTN2):c.2110C>T (p.Arg704Trp) rs776680281 0.00001
NM_005076.5(CNTN2):c.2119G>C (p.Glu707Gln) rs1654343660 0.00001
NM_005076.5(CNTN2):c.2140C>T (p.Pro714Ser) rs374773829 0.00001
NM_005076.5(CNTN2):c.2154C>T (p.Ser718=) rs1177695422 0.00001
NM_005076.5(CNTN2):c.216-15T>G rs780295997 0.00001
NM_005076.5(CNTN2):c.2162G>A (p.Gly721Asp) rs745808857 0.00001
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=) rs756031843 0.00001
NM_005076.5(CNTN2):c.2178G>C (p.Glu726Asp) rs1159334970 0.00001
NM_005076.5(CNTN2):c.2196G>T (p.Thr732=) rs1396081188 0.00001
NM_005076.5(CNTN2):c.2232C>T (p.Phe744=) rs866464813 0.00001
NM_005076.5(CNTN2):c.2280C>T (p.Thr760=) rs767244012 0.00001
NM_005076.5(CNTN2):c.2365C>T (p.Arg789Cys) rs1330386390 0.00001
NM_005076.5(CNTN2):c.2386G>A (p.Asp796Asn) rs1374137076 0.00001
NM_005076.5(CNTN2):c.2431+12C>G rs1436970258 0.00001
NM_005076.5(CNTN2):c.2432-2A>G rs1196223064 0.00001
NM_005076.5(CNTN2):c.2432-6C>T rs766760353 0.00001
NM_005076.5(CNTN2):c.2432-8G>T rs374180490 0.00001
NM_005076.5(CNTN2):c.2449A>G (p.Thr817Ala) rs1326524363 0.00001
NM_005076.5(CNTN2):c.2490C>T (p.Asn830=) rs776333018 0.00001
NM_005076.5(CNTN2):c.2505C>T (p.Pro835=) rs1279325074 0.00001
NM_005076.5(CNTN2):c.2544+15G>A rs1451392241 0.00001
NM_005076.5(CNTN2):c.2545-9C>T rs766586200 0.00001
NM_005076.5(CNTN2):c.2564G>A (p.Gly855Glu) rs1211430748 0.00001
NM_005076.5(CNTN2):c.256T>C (p.Ser86Pro) rs140567763 0.00001
NM_005076.5(CNTN2):c.2661C>T (p.Thr887=) rs769988245 0.00001
NM_005076.5(CNTN2):c.2662G>A (p.Val888Met) rs775579054 0.00001
NM_005076.5(CNTN2):c.2678G>A (p.Arg893Gln) rs751913913 0.00001
NM_005076.5(CNTN2):c.2712C>T (p.Asn904=) rs1339606709 0.00001
NM_005076.5(CNTN2):c.2717C>T (p.Thr906Met) rs370127764 0.00001
NM_005076.5(CNTN2):c.2731+16T>C rs749504685 0.00001
NM_005076.5(CNTN2):c.2731+6T>A rs769776725 0.00001
NM_005076.5(CNTN2):c.2752A>G (p.Asn918Asp) rs1160114127 0.00001
NM_005076.5(CNTN2):c.2775C>G (p.Ser925Arg) rs1654649315 0.00001
NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met) rs369729930 0.00001
NM_005076.5(CNTN2):c.3009T>C (p.Asn1003=) rs757390584 0.00001
NM_005076.5(CNTN2):c.3013+5T>A rs764921795 0.00001
NM_005076.5(CNTN2):c.3069C>T (p.Thr1023=) rs756612071 0.00001
NM_005076.5(CNTN2):c.3090G>A (p.Ala1030=) rs772810010 0.00001
NM_005076.5(CNTN2):c.3114G>A (p.Leu1038=) rs946694379 0.00001
NM_005076.5(CNTN2):c.3122G>A (p.Ter1041=) rs1654722229 0.00001
NM_005076.5(CNTN2):c.383G>A (p.Arg128His) rs759086850 0.00001
NM_005076.5(CNTN2):c.391+9C>T rs531062186 0.00001
NM_005076.5(CNTN2):c.415G>A (p.Glu139Lys) rs755814341 0.00001
NM_005076.5(CNTN2):c.423C>T (p.Asp141=) rs774281069 0.00001
NM_005076.5(CNTN2):c.468C>T (p.Asn156=) rs1395072638 0.00001
NM_005076.5(CNTN2):c.514G>A (p.Glu172Lys) rs763168456 0.00001
NM_005076.5(CNTN2):c.541G>A (p.Gly181Arg) rs754696472 0.00001
NM_005076.5(CNTN2):c.545G>A (p.Arg182His) rs771397976 0.00001
NM_005076.5(CNTN2):c.576G>A (p.Leu192=) rs1232729829 0.00001
NM_005076.5(CNTN2):c.587G>A (p.Arg196Gln) rs200403900 0.00001
NM_005076.5(CNTN2):c.594T>C (p.Asn198=) rs143234717 0.00001
NM_005076.5(CNTN2):c.657C>T (p.Ser219=) rs752354425 0.00001
NM_005076.5(CNTN2):c.658G>A (p.Val220Ile) rs758068126 0.00001
NM_005076.5(CNTN2):c.669G>C (p.Lys223Asn) rs549298351 0.00001
NM_005076.5(CNTN2):c.71-19G>A rs762328579 0.00001
NM_005076.5(CNTN2):c.730C>T (p.Arg244Trp) rs746384894 0.00001
NM_005076.5(CNTN2):c.740C>G (p.Ala247Gly) rs763480683 0.00001
NM_005076.5(CNTN2):c.765G>A (p.Gln255=) rs1318994065 0.00001
NM_005076.5(CNTN2):c.792T>G (p.Phe264Leu) rs183799891 0.00001
NM_005076.5(CNTN2):c.885C>T (p.Ser295=) rs765220880 0.00001
NM_005076.5(CNTN2):c.886G>A (p.Val296Ile) rs1187198906 0.00001
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter) rs1422381117 0.00001
NM_005076.5(CNTN2):c.949G>A (p.Val317Met) rs374463835 0.00001
NM_005076.5(CNTN2):c.959G>A (p.Arg320His) rs769682523 0.00001
NM_005076.5(CNTN2):c.973+5A>G rs1224395695 0.00001
NM_005076.5(CNTN2):c.974-4A>G rs1653998862 0.00001
NC_000001.10:g.(?_200522516)_(206945780_?)dup
NC_000001.10:g.(?_205022314)_(205042893_?)del
NM_005076.5(CNTN2):c.1001C>T (p.Ser334Leu)
NM_005076.5(CNTN2):c.1007C>T (p.Thr336Ile) rs2151192330
NM_005076.5(CNTN2):c.1018A>G (p.Ile340Val) rs2151192340
NM_005076.5(CNTN2):c.102C>T (p.Thr34=)
NM_005076.5(CNTN2):c.1063C>T (p.Arg355Trp)
NM_005076.5(CNTN2):c.1064G>A (p.Arg355Gln)
NM_005076.5(CNTN2):c.1065G>A (p.Arg355=)
NM_005076.5(CNTN2):c.1071A>G (p.Thr357=) rs1340324829
NM_005076.5(CNTN2):c.1072G>T (p.Val358Leu)
NM_005076.5(CNTN2):c.1083G>A (p.Leu361=)
NM_005076.5(CNTN2):c.1111-11C>G rs765974056
NM_005076.5(CNTN2):c.1111-14G>A
NM_005076.5(CNTN2):c.1111-14del
NM_005076.5(CNTN2):c.1111-4A>G rs1221890068
NM_005076.5(CNTN2):c.1111-5C>T
NM_005076.5(CNTN2):c.1111-6G>A
NM_005076.5(CNTN2):c.1111-6G>C
NM_005076.5(CNTN2):c.1111-7T>C
NM_005076.5(CNTN2):c.1129G>T (p.Ala377Ser) rs2151192775
NM_005076.5(CNTN2):c.1137C>T (p.Asp379=) rs1054922120
NM_005076.5(CNTN2):c.1138C>G (p.Leu380Val) rs2151192794
NM_005076.5(CNTN2):c.1170G>A (p.Ser390=)
NM_005076.5(CNTN2):c.1171G>A (p.Gly391Ser) rs1574648714
NM_005076.5(CNTN2):c.1180C>T (p.Gln394Ter) rs2151192841
NM_005076.5(CNTN2):c.1197T>C (p.Asn399=)
NM_005076.5(CNTN2):c.1203C>T (p.His401=)
NM_005076.5(CNTN2):c.1222G>A (p.Ala408Thr) rs1654048341
NM_005076.5(CNTN2):c.1224C>T (p.Ala408=) rs374199117
NM_005076.5(CNTN2):c.123C>T (p.Asp41=) rs2151189002
NM_005076.5(CNTN2):c.1240+15G>A
NM_005076.5(CNTN2):c.1240+1G>A rs113709347
NM_005076.5(CNTN2):c.1241-14C>T
NM_005076.5(CNTN2):c.1241C>T (p.Ala414Val) rs1654151236
NM_005076.5(CNTN2):c.124C>T (p.Gln42Ter)
NM_005076.5(CNTN2):c.1268C>T (p.Pro423Leu)
NM_005076.5(CNTN2):c.1269C>T (p.Pro423=)
NM_005076.5(CNTN2):c.1286C>T (p.Pro429Leu)
NM_005076.5(CNTN2):c.1288G>A (p.Ala430Thr) rs1444735689
NM_005076.5(CNTN2):c.1291G>A (p.Ala431Thr)
NM_005076.5(CNTN2):c.1292C>G (p.Ala431Gly) rs2151194175
NM_005076.5(CNTN2):c.1294C>A (p.Arg432Ser)
NM_005076.5(CNTN2):c.1297G>A (p.Gly433Arg) rs571201763
NM_005076.5(CNTN2):c.1299G>C (p.Gly433=)
NM_005076.5(CNTN2):c.1308C>A (p.Ile436=)
NM_005076.5(CNTN2):c.1327dup (p.Arg443fs)
NM_005076.5(CNTN2):c.1331C>T (p.Ala444Val) rs2151194250
NM_005076.5(CNTN2):c.1353C>T (p.Leu451=)
NM_005076.5(CNTN2):c.1359C>G (p.Ser453Arg)
NM_005076.5(CNTN2):c.1359C>T (p.Ser453=) rs746391581
NM_005076.5(CNTN2):c.135T>C (p.Ser45=)
NM_005076.5(CNTN2):c.1377G>A (p.Leu459=)
NM_005076.5(CNTN2):c.1391+13C>A
NM_005076.5(CNTN2):c.1391+14C>A rs2151194296
NM_005076.5(CNTN2):c.1391+18C>T
NM_005076.5(CNTN2):c.1391+20C>G
NM_005076.5(CNTN2):c.1391+5C>T
NM_005076.5(CNTN2):c.1392-12T>A
NM_005076.5(CNTN2):c.1392-14T>C
NM_005076.5(CNTN2):c.1392-20C>T
NM_005076.5(CNTN2):c.1392-5C>T
NM_005076.5(CNTN2):c.1405C>T (p.Pro469Ser) rs147693556
NM_005076.5(CNTN2):c.1414A>T (p.Thr472Ser) rs1654180576
NM_005076.5(CNTN2):c.1415C>A (p.Thr472Asn) rs201092596
NM_005076.5(CNTN2):c.141A>C (p.Leu47=)
NM_005076.5(CNTN2):c.1420A>G (p.Ile474Val)
NM_005076.5(CNTN2):c.1458C>T (p.Tyr486=)
NM_005076.5(CNTN2):c.1461C>G (p.Thr487=)
NM_005076.5(CNTN2):c.1494C>G (p.Asn498Lys)
NM_005076.5(CNTN2):c.1507C>G (p.Leu503Val) rs766723952
NM_005076.5(CNTN2):c.1507C>T (p.Leu503=) rs766723952
NM_005076.5(CNTN2):c.1516C>G (p.Arg506Gly)
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter) rs114903768
NM_005076.5(CNTN2):c.1519+14T>C
NM_005076.5(CNTN2):c.1519+15G>A
NM_005076.5(CNTN2):c.1519+18G>T
NM_005076.5(CNTN2):c.1519+3G>C
NM_005076.5(CNTN2):c.1519+5G>A
NM_005076.5(CNTN2):c.1519+7G>A rs1346328506
NM_005076.5(CNTN2):c.1519G>A (p.Asp507Asn) rs2151194531
NM_005076.5(CNTN2):c.1520-14G>T rs756912706
NM_005076.5(CNTN2):c.1520-17C>T rs1302100288
NM_005076.5(CNTN2):c.1523C>G (p.Ala508Gly) rs2151194777
NM_005076.5(CNTN2):c.1526C>T (p.Thr509Ile)
NM_005076.5(CNTN2):c.1542C>T (p.Ala514=) rs1222050124
NM_005076.5(CNTN2):c.1545C>A (p.Pro515=)
NM_005076.5(CNTN2):c.1575C>T (p.Asn525=)
NM_005076.5(CNTN2):c.1596C>T (p.Ala532=) rs1003669995
NM_005076.5(CNTN2):c.159_160delinsTT (p.Glu54Ter)
NM_005076.5(CNTN2):c.1609A>G (p.Thr537Ala)
NM_005076.5(CNTN2):c.1613T>C (p.Met538Thr)
NM_005076.5(CNTN2):c.1617C>T (p.Asp539=)
NM_005076.5(CNTN2):c.1629C>G (p.Thr543=)
NM_005076.5(CNTN2):c.1638G>A (p.Leu546=)
NM_005076.5(CNTN2):c.1642G>A (p.Asp548Asn) rs763451598
NM_005076.5(CNTN2):c.1647C>A (p.Phe549Leu) rs2151194902
NM_005076.5(CNTN2):c.1647C>T (p.Phe549=)
NM_005076.5(CNTN2):c.1677C>T (p.His559=) rs770974958
NM_005076.5(CNTN2):c.1680C>T (p.Tyr560=)
NM_005076.5(CNTN2):c.1682G>A (p.Arg561Gln)
NM_005076.5(CNTN2):c.1693G>A (p.Val565Met)
NM_005076.5(CNTN2):c.1695+20C>G
NM_005076.5(CNTN2):c.1695+2T>C rs763392794
NM_005076.5(CNTN2):c.1695+3G>A
NM_005076.5(CNTN2):c.1695+8C>G
NM_005076.5(CNTN2):c.1696-10C>A
NM_005076.5(CNTN2):c.1696-15T>C
NM_005076.5(CNTN2):c.1696-2A>G
NM_005076.5(CNTN2):c.1696-9C>T
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter) rs867618155
NM_005076.5(CNTN2):c.1708G>T (p.Gly570Trp) rs1654255048
NM_005076.5(CNTN2):c.1724T>A (p.Leu575Gln)
NM_005076.5(CNTN2):c.172T>C (p.Leu58=)
NM_005076.5(CNTN2):c.1735C>G (p.Leu579Val)
NM_005076.5(CNTN2):c.1739G>T (p.Arg580Leu) rs200242849
NM_005076.5(CNTN2):c.1746G>C (p.Gly582=)
NM_005076.5(CNTN2):c.1785C>T (p.Ser595=) rs374726965
NM_005076.5(CNTN2):c.1786G>A (p.Ala596Thr) rs556646437
NM_005076.5(CNTN2):c.1790C>T (p.Ser597Phe) rs1654262980
NM_005076.5(CNTN2):c.1798G>A (p.Ala600Thr)
NM_005076.5(CNTN2):c.179C>T (p.Ala60Val)
NM_005076.5(CNTN2):c.1800C>A (p.Ala600=)
NM_005076.5(CNTN2):c.1816+13C>T
NM_005076.5(CNTN2):c.1816+15A>C rs1654266364
NM_005076.5(CNTN2):c.1816+8G>A
NM_005076.5(CNTN2):c.1817-14A>G
NM_005076.5(CNTN2):c.1829C>T (p.Pro610Leu)
NM_005076.5(CNTN2):c.1837G>A (p.Gly613Ser) rs1654294617
NM_005076.5(CNTN2):c.1840G>T (p.Val614Leu) rs2151195932
NM_005076.5(CNTN2):c.1848G>A (p.Val616=)
NM_005076.5(CNTN2):c.1861G>A (p.Asp621Asn) rs140285037
NM_005076.5(CNTN2):c.1870A>G (p.Ile624Val)
NM_005076.5(CNTN2):c.1872C>G (p.Ile624Met) rs202153875
NM_005076.5(CNTN2):c.187G>A (p.Ala63Thr)
NM_005076.5(CNTN2):c.1888C>A (p.Arg630Ser) rs574231253
NM_005076.5(CNTN2):c.1888C>T (p.Arg630Cys) rs574231253
NM_005076.5(CNTN2):c.188C>A (p.Ala63Asp)
NM_005076.5(CNTN2):c.1907G>A (p.Ser636Asn)
NM_005076.5(CNTN2):c.190C>T (p.Arg64Trp)
NM_005076.5(CNTN2):c.1913T>C (p.Ile638Thr) rs2151196049
NM_005076.5(CNTN2):c.1919A>C (p.Lys640Thr)
NM_005076.5(CNTN2):c.1921T>A (p.Tyr641Asn) rs2151196059
NM_005076.5(CNTN2):c.1926C>T (p.Thr642=) rs747563076
NM_005076.5(CNTN2):c.1937G>A (p.Arg646His) rs780787184
NM_005076.5(CNTN2):c.1942C>G (p.Pro648Ala)
NM_005076.5(CNTN2):c.1949C>T (p.Ala650Val) rs1398781322
NM_005076.5(CNTN2):c.1962G>A (p.Lys654=)
NM_005076.5(CNTN2):c.1963C>G (p.Gln655Glu) rs1262628184
NM_005076.5(CNTN2):c.1964A>G (p.Gln655Arg)
NM_005076.5(CNTN2):c.1965G>A (p.Gln655=) rs768447366
NM_005076.5(CNTN2):c.1969C>T (p.Arg657Trp) rs2305276
NM_005076.5(CNTN2):c.1975+10A>G rs773175563
NM_005076.5(CNTN2):c.1975+13C>T
NM_005076.5(CNTN2):c.1975+15C>T
NM_005076.5(CNTN2):c.1975+7G>T rs1654305122
NM_005076.5(CNTN2):c.1976-15C>T rs2151196512
NM_005076.5(CNTN2):c.1976-7C>G rs773089407
NM_005076.5(CNTN2):c.1976A>T (p.Asn659Ile)
NM_005076.5(CNTN2):c.1987A>G (p.Ile663Val)
NM_005076.5(CNTN2):c.1989C>A (p.Ile663=)
NM_005076.5(CNTN2):c.1989C>T (p.Ile663=)
NM_005076.5(CNTN2):c.2025C>A (p.Leu675=) rs1340029424
NM_005076.5(CNTN2):c.2026A>G (p.Thr676Ala) rs1574655799
NM_005076.5(CNTN2):c.2032T>A (p.Trp678Arg) rs1553347245
NM_005076.5(CNTN2):c.2040C>G (p.Asp680Glu)
NM_005076.5(CNTN2):c.2044G>C (p.Glu682Gln) rs2151196614
NM_005076.5(CNTN2):c.2051G>A (p.Arg684Gln)
NM_005076.5(CNTN2):c.2052G>A (p.Arg684=)
NM_005076.5(CNTN2):c.2064C>T (p.Ser688=)
NM_005076.5(CNTN2):c.2067_2068del (p.Ile690fs)
NM_005076.5(CNTN2):c.2079T>C (p.Thr693=) rs2151196632
NM_005076.5(CNTN2):c.2081_2099del (p.Gly694fs)
NM_005076.5(CNTN2):c.2108T>A (p.Ile703Asn) rs2151196671
NM_005076.5(CNTN2):c.2125+10C>T rs1301103369
NM_005076.5(CNTN2):c.2125+12G>A
NM_005076.5(CNTN2):c.2126-12G>T
NM_005076.5(CNTN2):c.2126-16C>A rs202038605
NM_005076.5(CNTN2):c.2126-1G>C rs2151198133
NM_005076.5(CNTN2):c.2126C>G (p.Ala709Gly) rs2151198136
NM_005076.5(CNTN2):c.2130C>T (p.Pro710=) rs1009461344
NM_005076.5(CNTN2):c.2131T>G (p.Ser711Ala)
NM_005076.5(CNTN2):c.2136G>A (p.Val712=)
NM_005076.5(CNTN2):c.2149C>T (p.Leu717Phe) rs970659488
NM_005076.5(CNTN2):c.215+11T>G
NM_005076.5(CNTN2):c.215+20T>G
NM_005076.5(CNTN2):c.215+6G>A rs370377460
NM_005076.5(CNTN2):c.215+6G>T
NM_005076.5(CNTN2):c.215G>C (p.Arg72Pro)
NM_005076.5(CNTN2):c.216-18C>T
NM_005076.5(CNTN2):c.216-19C>T
NM_005076.5(CNTN2):c.2173G>A (p.Gly725Arg)
NM_005076.5(CNTN2):c.2184C>T (p.Ile728=)
NM_005076.5(CNTN2):c.2185G>A (p.Val729Ile)
NM_005076.5(CNTN2):c.2193G>A (p.Trp731Ter)
NM_005076.5(CNTN2):c.2193G>C (p.Trp731Cys) rs1553347743
NM_005076.5(CNTN2):c.2196+42C>T rs2305275
NM_005076.5(CNTN2):c.2196+7T>G rs1654476200
NM_005076.5(CNTN2):c.2197-2A>G
NM_005076.5(CNTN2):c.2197-7C>T
NM_005076.5(CNTN2):c.2197-9G>C
NM_005076.5(CNTN2):c.2207G>A (p.Arg736Gln)
NM_005076.5(CNTN2):c.222G>A (p.Lys74=)
NM_005076.5(CNTN2):c.2241G>A (p.Leu747=)
NM_005076.5(CNTN2):c.2273_2274delinsAT (p.Trp758Tyr) rs1064796187
NM_005076.5(CNTN2):c.2281G>A (p.Ala761Thr)
NM_005076.5(CNTN2):c.2285G>A (p.Arg762Gln)
NM_005076.5(CNTN2):c.2299G>A (p.Asp767Asn) rs1654500986
NM_005076.5(CNTN2):c.2302G>C (p.Ala768Pro)
NM_005076.5(CNTN2):c.2304C>T (p.Ala768=)
NM_005076.5(CNTN2):c.2336G>A (p.Arg779Gln) rs2151198576
NM_005076.5(CNTN2):c.2349C>T (p.Pro783=)
NM_005076.5(CNTN2):c.234C>T (p.Thr78=)
NM_005076.5(CNTN2):c.2356G>T (p.Val786Phe) rs780226583
NM_005076.5(CNTN2):c.2394C>T (p.Pro798=)
NM_005076.5(CNTN2):c.240G>A (p.Met80Ile)
NM_005076.5(CNTN2):c.2412C>T (p.Leu804=) rs753589096
NM_005076.5(CNTN2):c.2431+18_2431+19insA
NM_005076.5(CNTN2):c.2431+4G>A rs2151198657
NM_005076.5(CNTN2):c.2431+5G>A rs1380526589
NM_005076.5(CNTN2):c.2432-19A>T
NM_005076.5(CNTN2):c.2445C>G (p.Ala815=)
NM_005076.5(CNTN2):c.2448T>C (p.Pro816=)
NM_005076.5(CNTN2):c.2483A>G (p.Glu828Gly) rs1574660291
NM_005076.5(CNTN2):c.2491G>A (p.Val831Met)
NM_005076.5(CNTN2):c.2496C>T (p.Thr832=)
NM_005076.5(CNTN2):c.2506G>A (p.Val836Met) rs775217770
NM_005076.5(CNTN2):c.2509C>A (p.Gln837Lys)
NM_005076.5(CNTN2):c.2513A>C (p.Gln838Pro) rs1654537849
NM_005076.5(CNTN2):c.2514G>C (p.Gln838His) rs144293383
NM_005076.5(CNTN2):c.2515G>A (p.Asp839Asn)
NM_005076.5(CNTN2):c.2517C>T (p.Asp839=) rs1654538290
NM_005076.5(CNTN2):c.2540A>G (p.Tyr847Cys)
NM_005076.5(CNTN2):c.2544+14T>G
NM_005076.5(CNTN2):c.2544+1G>T
NM_005076.5(CNTN2):c.2544+20T>G
NM_005076.5(CNTN2):c.2544+9C>T
NM_005076.5(CNTN2):c.2545-10C>T
NM_005076.5(CNTN2):c.2545-11G>A
NM_005076.5(CNTN2):c.2545-16C>T rs2151199908
NM_005076.5(CNTN2):c.2545-20G>C rs749089664
NM_005076.5(CNTN2):c.2548C>T (p.Arg850Cys)
NM_005076.5(CNTN2):c.2550C>G (p.Arg850=)
NM_005076.5(CNTN2):c.2577A>G (p.Ala859=)
NM_005076.5(CNTN2):c.2587C>T (p.Arg863Ter) rs531184069
NM_005076.5(CNTN2):c.2589A>G (p.Arg863=) rs1452001260
NM_005076.5(CNTN2):c.260G>A (p.Arg87His)
NM_005076.5(CNTN2):c.2645C>T (p.Thr882Ile)
NM_005076.5(CNTN2):c.2655T>G (p.His885Gln) rs759745695
NM_005076.5(CNTN2):c.2660C>T (p.Thr887Ile)
NM_005076.5(CNTN2):c.2668G>A (p.Ala890Thr) rs2151200043
NM_005076.5(CNTN2):c.2673C>T (p.Tyr891=)
NM_005076.5(CNTN2):c.2676C>T (p.Asn892=)
NM_005076.5(CNTN2):c.2683G>A (p.Gly895Ser)
NM_005076.5(CNTN2):c.2685C>T (p.Gly895=) rs750919252
NM_005076.5(CNTN2):c.2688T>A (p.Thr896=) rs375780610
NM_005076.5(CNTN2):c.2696C>A (p.Ala899Asp)
NM_005076.5(CNTN2):c.2697dup (p.Ser900fs) rs2151200083
NM_005076.5(CNTN2):c.2701C>T (p.Pro901Ser) rs2151200097
NM_005076.5(CNTN2):c.2715C>T (p.Ala905=)
NM_005076.5(CNTN2):c.2718G>A (p.Thr906=)
NM_005076.5(CNTN2):c.2718G>T (p.Thr906=)
NM_005076.5(CNTN2):c.2721C>T (p.Thr907=)
NM_005076.5(CNTN2):c.2731+19G>T rs2151200154
NM_005076.5(CNTN2):c.2731+1G>A rs1202358073
NM_005076.5(CNTN2):c.2732-12C>T
NM_005076.5(CNTN2):c.2735C>T (p.Pro912Leu) rs777653447
NM_005076.5(CNTN2):c.273G>C (p.Val91=)
NM_005076.5(CNTN2):c.273G>T (p.Val91=)
NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter) rs768608238
NM_005076.5(CNTN2):c.274G>C (p.Gly92Arg)
NM_005076.5(CNTN2):c.2750G>C (p.Gly917Ala)
NM_005076.5(CNTN2):c.2773del (p.Ser925fs) rs2151200415
NM_005076.5(CNTN2):c.2778T>C (p.Ser926=)
NM_005076.5(CNTN2):c.2784T>C (p.Leu928=) rs1354778874
NM_005076.5(CNTN2):c.2811T>C (p.Pro937=)
NM_005076.5(CNTN2):c.2834C>A (p.Thr945Asn)
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=)
NM_005076.5(CNTN2):c.283C>T (p.Leu95=) rs2151189280
NM_005076.5(CNTN2):c.2845-3C>T
NM_005076.5(CNTN2):c.2861A>G (p.Asp954Gly) rs767209651
NM_005076.5(CNTN2):c.2874_2875del (p.Pro959fs)
NM_005076.5(CNTN2):c.2886C>G (p.His962Gln) rs56111335
NM_005076.5(CNTN2):c.2886C>T (p.His962=) rs56111335
NM_005076.5(CNTN2):c.2892C>T (p.Thr964=)
NM_005076.5(CNTN2):c.2905A>G (p.Ile969Val)
NM_005076.5(CNTN2):c.2923G>A (p.Glu975Lys) rs1654681238
NM_005076.5(CNTN2):c.2926G>A (p.Asp976Asn)
NM_005076.5(CNTN2):c.2933G>C (p.Gly978Ala) rs1654682070
NM_005076.5(CNTN2):c.2944G>A (p.Val982Ile) rs761355817
NM_005076.5(CNTN2):c.2954G>A (p.Arg985Gln) rs1348228431
NM_005076.5(CNTN2):c.2966C>T (p.Pro989Leu) rs1193731341
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=)
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=)
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser) rs1654685363
NM_005076.5(CNTN2):c.2988A>G (p.Ala996=)
NM_005076.5(CNTN2):c.298C>T (p.Pro100Ser) rs1350606305
NM_005076.5(CNTN2):c.3000C>A (p.Ile1000=) rs947096199
NM_005076.5(CNTN2):c.3000C>T (p.Ile1000=)
NM_005076.5(CNTN2):c.3011G>A (p.Gly1004Glu) rs1364145938
NM_005076.5(CNTN2):c.3013+14C>T rs2151200888
NM_005076.5(CNTN2):c.3013+15C>T
NM_005076.5(CNTN2):c.3013+17A>G
NM_005076.5(CNTN2):c.3013+19C>G
NM_005076.5(CNTN2):c.3013+1G>A
NM_005076.5(CNTN2):c.3013+4C>G rs1654687741
NM_005076.5(CNTN2):c.3013+6_3013+8del rs752153648
NM_005076.5(CNTN2):c.3014-13G>C
NM_005076.5(CNTN2):c.3014-17G>A
NM_005076.5(CNTN2):c.3039G>A (p.Met1013Ile)
NM_005076.5(CNTN2):c.3042A>T (p.Ala1014=)
NM_005076.5(CNTN2):c.3046C>T (p.Arg1016Cys)
NM_005076.5(CNTN2):c.3050C>T (p.Pro1017Leu) rs757311639
NM_005076.5(CNTN2):c.305A>C (p.Lys102Thr) rs1359784884
NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=) rs975151766
NM_005076.5(CNTN2):c.306G>A (p.Lys102=)
NM_005076.5(CNTN2):c.3072C>T (p.Val1024=) rs2151201250
NM_005076.5(CNTN2):c.3081C>T (p.His1027=)
NM_005076.5(CNTN2):c.3087G>C (p.Val1029=) rs747629348
NM_005076.5(CNTN2):c.308C>T (p.Ala103Val)
NM_005076.5(CNTN2):c.3094C>G (p.Leu1032Val)
NM_005076.5(CNTN2):c.3099C>T (p.Ile1033=) rs368955126
NM_005076.5(CNTN2):c.3108C>T (p.Gly1036=)
NM_005076.5(CNTN2):c.3117G>C (p.Glu1039Asp) rs1232718150
NM_005076.5(CNTN2):c.3123A>G (p.Ter1041Trp) rs2151201303
NM_005076.5(CNTN2):c.317C>G (p.Ala106Gly)
NM_005076.5(CNTN2):c.318C>G (p.Ala106=) rs372422500
NM_005076.5(CNTN2):c.31C>G (p.Leu11Val) rs2096455937
NM_005076.5(CNTN2):c.325T>G (p.Tyr109Asp) rs1653771144
NM_005076.5(CNTN2):c.337G>C (p.Ala113Pro) rs1032446046
NM_005076.5(CNTN2):c.342C>T (p.Ser114=)
NM_005076.5(CNTN2):c.351G>A (p.Val117=) rs2151189366
NM_005076.5(CNTN2):c.369G>A (p.Arg123=)
NM_005076.5(CNTN2):c.387C>T (p.Phe129=)
NM_005076.5(CNTN2):c.391+18C>T
NM_005076.5(CNTN2):c.391+7C>G
NM_005076.5(CNTN2):c.391+8C>G
NM_005076.5(CNTN2):c.392-19C>T rs2151189586
NM_005076.5(CNTN2):c.394C>T (p.Leu132=) rs2151189605
NM_005076.5(CNTN2):c.39G>A (p.Leu13=) rs1375494353
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
NM_005076.5(CNTN2):c.427G>T (p.Val143Leu) rs2151189641
NM_005076.5(CNTN2):c.476C>T (p.Ala159Val) rs1653796008
NM_005076.5(CNTN2):c.478C>A (p.His160Asn) rs2151189694
NM_005076.5(CNTN2):c.479A>T (p.His160Leu) rs1327945426
NM_005076.5(CNTN2):c.487+12C>G
NM_005076.5(CNTN2):c.487+18del
NM_005076.5(CNTN2):c.487+20C>T
NM_005076.5(CNTN2):c.488-17A>C rs747845333
NM_005076.5(CNTN2):c.488-4C>T
NM_005076.5(CNTN2):c.49G>A (p.Val17Met) rs1290934625
NM_005076.5(CNTN2):c.504del (p.Trp168fs) rs398122387
NM_005076.5(CNTN2):c.51G>A (p.Val17=) rs2151185969
NM_005076.5(CNTN2):c.528C>T (p.Phe176=) rs952476278
NM_005076.5(CNTN2):c.533C>T (p.Pro178Leu)
NM_005076.5(CNTN2):c.534G>C (p.Pro178=) rs151020999
NM_005076.5(CNTN2):c.537G>A (p.Thr179=)
NM_005076.5(CNTN2):c.540C>T (p.Asp180=)
NM_005076.5(CNTN2):c.543G>C (p.Gly181=) rs145237574
NM_005076.5(CNTN2):c.553G>A (p.Val185Met) rs866000513
NM_005076.5(CNTN2):c.555G>C (p.Val185=) rs2151190097
NM_005076.5(CNTN2):c.57T>C (p.Leu19=)
NM_005076.5(CNTN2):c.584C>T (p.Ala195Val) rs2151190134
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter) rs537026414
NM_005076.5(CNTN2):c.591C>A (p.Thr197=)
NM_005076.5(CNTN2):c.615C>T (p.Tyr205=)
NM_005076.5(CNTN2):c.618C>G (p.Ser206=) rs1653833334
NM_005076.5(CNTN2):c.619T>C (p.Cys207Arg) rs2151190177
NM_005076.5(CNTN2):c.635A>T (p.His212Leu) rs1558542528
NM_005076.5(CNTN2):c.636C>T (p.His212=)
NM_005076.5(CNTN2):c.654G>C (p.Lys218Asn) rs1653835996
NM_005076.5(CNTN2):c.690T>C (p.Ala230=) rs1182147073
NM_005076.5(CNTN2):c.697+11G>A
NM_005076.5(CNTN2):c.697+18G>A rs872379
NM_005076.5(CNTN2):c.697+18G>T rs872379
NM_005076.5(CNTN2):c.698-13C>A
NM_005076.5(CNTN2):c.698-14C>T
NM_005076.5(CNTN2):c.69A>G (p.Ser23=)
NM_005076.5(CNTN2):c.70+8G>A
NM_005076.5(CNTN2):c.71-19G>T rs762328579
NM_005076.5(CNTN2):c.71-6C>A
NM_005076.5(CNTN2):c.71-7C>T rs2151188960
NM_005076.5(CNTN2):c.723C>G (p.Ile241Met) rs1653860952
NM_005076.5(CNTN2):c.736C>A (p.Pro246Thr) rs2151190542
NM_005076.5(CNTN2):c.744G>A (p.Glu248=)
NM_005076.5(CNTN2):c.745A>G (p.Thr249Ala) rs1191773782
NM_005076.5(CNTN2):c.756G>A (p.Leu252=)
NM_005076.5(CNTN2):c.762G>C (p.Gly254=) rs1653864841
NM_005076.5(CNTN2):c.766C>T (p.Gln256Ter)
NM_005076.5(CNTN2):c.777G>A (p.Leu259=)
NM_005076.5(CNTN2):c.787G>A (p.Ala263Thr)
NM_005076.5(CNTN2):c.792T>C (p.Phe264=)
NM_005076.5(CNTN2):c.797+14G>A
NM_005076.5(CNTN2):c.797+15G>A
NM_005076.5(CNTN2):c.797+16dup rs5780262
NM_005076.5(CNTN2):c.797+18G>A
NM_005076.5(CNTN2):c.798-6T>C
NM_005076.5(CNTN2):c.798C>T (p.Asn266=)
NM_005076.5(CNTN2):c.809G>A (p.Arg270Gln)
NM_005076.5(CNTN2):c.816G>A (p.Lys272=)
NM_005076.5(CNTN2):c.820C>T (p.Arg274Cys) rs1473353987
NM_005076.5(CNTN2):c.832G>A (p.Gly278Ser)
NM_005076.5(CNTN2):c.835T>A (p.Ser279Thr) rs2151191847
NM_005076.5(CNTN2):c.849G>C (p.Gln283His)
NM_005076.5(CNTN2):c.851G>A (p.Trp284Ter)
NM_005076.5(CNTN2):c.855C>A (p.Thr285=)
NM_005076.5(CNTN2):c.859G>A (p.Ala287Thr) rs1653966883
NM_005076.5(CNTN2):c.85C>G (p.Leu29Val)
NM_005076.5(CNTN2):c.862G>A (p.Glu288Lys)
NM_005076.5(CNTN2):c.885C>A (p.Ser295Arg)
NM_005076.5(CNTN2):c.886G>C (p.Val296Leu)
NM_005076.5(CNTN2):c.8C>A (p.Thr3Lys)
NM_005076.5(CNTN2):c.900T>C (p.Asp300=)
NM_005076.5(CNTN2):c.910T>C (p.Tyr304His)
NM_005076.5(CNTN2):c.913G>C (p.Glu305Gln) rs143449488
NM_005076.5(CNTN2):c.931T>C (p.Ser311Pro) rs1064794428
NM_005076.5(CNTN2):c.934A>G (p.Lys312Glu)
NM_005076.5(CNTN2):c.948C>A (p.Thr316=) rs542983417
NM_005076.5(CNTN2):c.948C>T (p.Thr316=)
NM_005076.5(CNTN2):c.954G>C (p.Gln318His)
NM_005076.5(CNTN2):c.967G>C (p.Val323Leu)
NM_005076.5(CNTN2):c.973+13G>C rs2151192001
NM_005076.5(CNTN2):c.974-12G>A rs201080048
NM_005076.5(CNTN2):c.974-13C>T
NM_005076.5(CNTN2):c.992A>T (p.Lys331Ile) rs1175397570
NM_005076.5(CNTN2):c.99C>T (p.Thr33=)

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