ClinVar Miner

List of variants reported as likely benign for Epilepsy, familial adult myoclonic, 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 407
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.391+12G>A rs16855012 0.01251
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.1656C>A (p.Asp552Glu) rs145352110 0.00169
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.3085G>A (p.Val1029Met) rs139534426 0.00054
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
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.487+20C>A rs201600070 0.00031
NM_005076.5(CNTN2):c.2844+11A>C rs377297728 0.00019
NM_005076.5(CNTN2):c.1755C>T (p.Tyr585=) rs575768659 0.00016
NM_005076.5(CNTN2):c.1215C>T (p.Tyr405=) rs764907069 0.00013
NM_005076.5(CNTN2):c.2514G>A (p.Gln838=) rs144293383 0.00013
NM_005076.5(CNTN2):c.2683G>A (p.Gly895Ser) rs762136129 0.00013
NM_005076.5(CNTN2):c.1738C>T (p.Arg580Cys) rs185787873 0.00010
NM_005076.5(CNTN2):c.1344C>T (p.Ala448=) rs778178054 0.00009
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.2760C>T (p.Ser920=) rs201621031 0.00009
NM_005076.5(CNTN2):c.537G>C (p.Thr179=) rs143379833 0.00009
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr) rs752262787 0.00008
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.1696-9C>T rs775059703 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.1197T>C (p.Asn399=) rs201580593 0.00006
NM_005076.5(CNTN2):c.1641C>T (p.Asp547=) rs150567846 0.00006
NM_005076.5(CNTN2):c.186C>T (p.Arg62=) rs762058787 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.2649G>A (p.Lys883=) rs772173976 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.1392-12T>A rs575199834 0.00005
NM_005076.5(CNTN2):c.1976-14C>G rs377135513 0.00005
NM_005076.5(CNTN2):c.261T>C (p.Arg87=) rs767771094 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.786C>T (p.Phe262=) rs369368742 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.1221C>T (p.Ser407=) rs774139246 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.1519+14T>C rs746663369 0.00004
NM_005076.5(CNTN2):c.1728C>T (p.Asn576=) rs766092588 0.00004
NM_005076.5(CNTN2):c.1788G>A (p.Ala596=) rs151320977 0.00004
NM_005076.5(CNTN2):c.2001C>T (p.Ala667=) rs1307242710 0.00004
NM_005076.5(CNTN2):c.2197-9G>C rs1197883102 0.00004
NM_005076.5(CNTN2):c.2545-11G>A rs774224793 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.342C>T (p.Ser114=) rs1186385180 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.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.1001C>T (p.Ser334Leu) rs545256650 0.00003
NM_005076.5(CNTN2):c.1002G>A (p.Ser334=) rs766457094 0.00003
NM_005076.5(CNTN2):c.1035T>C (p.Arg345=) rs373583007 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.1240+18G>T rs200630793 0.00003
NM_005076.5(CNTN2):c.1241-3T>C rs200577280 0.00003
NM_005076.5(CNTN2):c.1290G>A (p.Ala430=) rs748381947 0.00003
NM_005076.5(CNTN2):c.1392-6C>T rs749779814 0.00003
NM_005076.5(CNTN2):c.1696-15T>C rs924002129 0.00003
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=) rs200403480 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.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.216-9C>T rs577845981 0.00003
NM_005076.5(CNTN2):c.2340C>G (p.Pro780=) rs975647789 0.00003
NM_005076.5(CNTN2):c.234C>T (p.Thr78=) rs772708966 0.00003
NM_005076.5(CNTN2):c.2548C>T (p.Arg850Cys) rs528954738 0.00003
NM_005076.5(CNTN2):c.2577A>G (p.Ala859=) rs764452806 0.00003
NM_005076.5(CNTN2):c.2880G>A (p.Thr960=) rs1201954383 0.00003
NM_005076.5(CNTN2):c.2934C>A (p.Gly978=) rs138851018 0.00003
NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met) rs369729930 0.00003
NM_005076.5(CNTN2):c.391+9C>T rs531062186 0.00003
NM_005076.5(CNTN2):c.392-14G>T rs148381903 0.00003
NM_005076.5(CNTN2):c.513C>T (p.Asn171=) rs371187600 0.00003
NM_005076.5(CNTN2):c.540C>T (p.Asp180=) rs150422381 0.00003
NM_005076.5(CNTN2):c.697+20G>A rs906628634 0.00003
NM_005076.5(CNTN2):c.855C>A (p.Thr285=) rs1250408181 0.00003
NM_005076.5(CNTN2):c.1050C>T (p.Ala350=) rs142610365 0.00002
NM_005076.5(CNTN2):c.1170G>A (p.Ser390=) rs1285737396 0.00002
NM_005076.5(CNTN2):c.159G>A (p.Thr53=) rs907497961 0.00002
NM_005076.5(CNTN2):c.1695+8C>G rs1270941352 0.00002
NM_005076.5(CNTN2):c.1773G>A (p.Thr591=) rs760280337 0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_005076.5(CNTN2):c.238A>G (p.Met80Val) rs776309126 0.00002
NM_005076.5(CNTN2):c.2545-10C>T rs761747942 0.00002
NM_005076.5(CNTN2):c.2545-20G>T rs749089664 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.2892C>T (p.Thr964=) rs371453407 0.00002
NM_005076.5(CNTN2):c.3114G>A (p.Leu1038=) rs946694379 0.00002
NM_005076.5(CNTN2):c.391+11C>T rs750562954 0.00002
NM_005076.5(CNTN2):c.552C>T (p.Phe184=) rs777614226 0.00002
NM_005076.5(CNTN2):c.636C>T (p.His212=) rs777172499 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.102C>T (p.Thr34=) rs1653734708 0.00001
NM_005076.5(CNTN2):c.1053C>T (p.Ala351=) rs140963950 0.00001
NM_005076.5(CNTN2):c.1065G>A (p.Arg355=) rs1410682908 0.00001
NM_005076.5(CNTN2):c.1071A>T (p.Thr357=) rs1340324829 0.00001
NM_005076.5(CNTN2):c.1111-11C>T rs765974056 0.00001
NM_005076.5(CNTN2):c.1111-5C>T rs376996860 0.00001
NM_005076.5(CNTN2):c.1111-6G>C rs754588590 0.00001
NM_005076.5(CNTN2):c.1111-7T>C rs753497215 0.00001
NM_005076.5(CNTN2):c.1125G>A (p.Val375=) rs758300776 0.00001
NM_005076.5(CNTN2):c.1173C>A (p.Gly391=) rs370344142 0.00001
NM_005076.5(CNTN2):c.1233C>T (p.Ala411=) rs748305651 0.00001
NM_005076.5(CNTN2):c.1240+8G>A rs773641285 0.00001
NM_005076.5(CNTN2):c.1269C>T (p.Pro423=) rs529358251 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.1299G>C (p.Gly433=) rs368462793 0.00001
NM_005076.5(CNTN2):c.1302A>T (p.Gly434=) rs1346381795 0.00001
NM_005076.5(CNTN2):c.1347G>A (p.Val449=) rs781410852 0.00001
NM_005076.5(CNTN2):c.1359C>T (p.Ser453=) rs746391581 0.00001
NM_005076.5(CNTN2):c.1377G>A (p.Leu459=) rs770699268 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.1392-14T>C rs756676784 0.00001
NM_005076.5(CNTN2):c.141A>C (p.Leu47=) rs772095599 0.00001
NM_005076.5(CNTN2):c.1507C>T (p.Leu503=) rs766723952 0.00001
NM_005076.5(CNTN2):c.1519+18G>T rs1010912950 0.00001
NM_005076.5(CNTN2):c.1520-14G>T rs756912706 0.00001
NM_005076.5(CNTN2):c.1520-17C>T rs1302100288 0.00001
NM_005076.5(CNTN2):c.1554C>T (p.Ala518=) rs769684489 0.00001
NM_005076.5(CNTN2):c.1578G>A (p.Leu526=) rs998708044 0.00001
NM_005076.5(CNTN2):c.1608C>T (p.Pro536=) rs771101678 0.00001
NM_005076.5(CNTN2):c.1617C>T (p.Asp539=) rs1654213151 0.00001
NM_005076.5(CNTN2):c.1695+20C>G rs761461133 0.00001
NM_005076.5(CNTN2):c.1695+7C>T rs1433018634 0.00001
NM_005076.5(CNTN2):c.1696-8G>A rs766657667 0.00001
NM_005076.5(CNTN2):c.1800C>A (p.Ala600=) rs1386085112 0.00001
NM_005076.5(CNTN2):c.1816+13C>T rs1247447180 0.00001
NM_005076.5(CNTN2):c.1848G>A (p.Val616=) rs759256573 0.00001
NM_005076.5(CNTN2):c.1872C>G (p.Ile624Met) rs202153875 0.00001
NM_005076.5(CNTN2):c.1878C>A (p.Leu626=) rs1486789598 0.00001
NM_005076.5(CNTN2):c.1965G>A (p.Gln655=) rs768447366 0.00001
NM_005076.5(CNTN2):c.1980T>C (p.Pro660=) rs760622164 0.00001
NM_005076.5(CNTN2):c.1989C>A (p.Ile663=) rs573970264 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.2126-12G>T rs752211747 0.00001
NM_005076.5(CNTN2):c.215+11T>G rs543861806 0.00001
NM_005076.5(CNTN2):c.215+20T>G rs939809329 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.216-18C>T rs1306166742 0.00001
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=) rs756031843 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.2431+12C>G rs1436970258 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.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.2661C>T (p.Thr887=) rs769988245 0.00001
NM_005076.5(CNTN2):c.2712C>T (p.Asn904=) rs1339606709 0.00001
NM_005076.5(CNTN2):c.2731+16T>C rs749504685 0.00001
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=) rs766320758 0.00001
NM_005076.5(CNTN2):c.2985T>C (p.Pro995=) rs138239566 0.00001
NM_005076.5(CNTN2):c.3009T>C (p.Asn1003=) rs757390584 0.00001
NM_005076.5(CNTN2):c.3069C>T (p.Thr1023=) rs756612071 0.00001
NM_005076.5(CNTN2):c.3081C>T (p.His1027=) rs749856453 0.00001
NM_005076.5(CNTN2):c.3090G>A (p.Ala1030=) rs772810010 0.00001
NM_005076.5(CNTN2):c.3108C>T (p.Gly1036=) rs770764291 0.00001
NM_005076.5(CNTN2):c.3122G>A (p.Ter1041=) rs1654722229 0.00001
NM_005076.5(CNTN2):c.369G>A (p.Arg123=) rs1653773193 0.00001
NM_005076.5(CNTN2):c.387C>T (p.Phe129=) rs957164200 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.528C>T (p.Phe176=) rs952476278 0.00001
NM_005076.5(CNTN2):c.576G>A (p.Leu192=) rs1232729829 0.00001
NM_005076.5(CNTN2):c.591C>A (p.Thr197=) rs1488401491 0.00001
NM_005076.5(CNTN2):c.594T>C (p.Asn198=) rs143234717 0.00001
NM_005076.5(CNTN2):c.615C>T (p.Tyr205=) rs1331357575 0.00001
NM_005076.5(CNTN2):c.657C>T (p.Ser219=) rs752354425 0.00001
NM_005076.5(CNTN2):c.71-19G>A rs762328579 0.00001
NM_005076.5(CNTN2):c.744G>A (p.Glu248=) rs369599797 0.00001
NM_005076.5(CNTN2):c.765G>A (p.Gln255=) rs1318994065 0.00001
NM_005076.5(CNTN2):c.777G>A (p.Leu259=) rs1045108778 0.00001
NM_005076.5(CNTN2):c.797+15G>A rs1452102150 0.00001
NM_005076.5(CNTN2):c.797+18G>A rs199754069 0.00001
NM_005076.5(CNTN2):c.798-6T>C rs1653961485 0.00001
NM_005076.5(CNTN2):c.885C>T (p.Ser295=) rs765220880 0.00001
NM_005076.5(CNTN2):c.948C>A (p.Thr316=) rs542983417 0.00001
NM_005076.5(CNTN2):c.974-13C>T rs1389959235 0.00001
NM_005076.5(CNTN2):c.974-4A>G rs1653998862 0.00001
NM_005076.5(CNTN2):c.1029C>T (p.Asn343=)
NM_005076.5(CNTN2):c.1071A>G (p.Thr357=) rs1340324829
NM_005076.5(CNTN2):c.1083G>A (p.Leu361=) rs2526368821
NM_005076.5(CNTN2):c.1111-11C>G rs765974056
NM_005076.5(CNTN2):c.1111-14G>A rs2526371649
NM_005076.5(CNTN2):c.1111-14del rs1302006518
NM_005076.5(CNTN2):c.1111-4A>G rs1221890068
NM_005076.5(CNTN2):c.1111-6G>A rs754588590
NM_005076.5(CNTN2):c.1111-6G>T
NM_005076.5(CNTN2):c.1137C>T (p.Asp379=) rs1054922120
NM_005076.5(CNTN2):c.1138C>T (p.Leu380=)
NM_005076.5(CNTN2):c.114C>G (p.Val38=)
NM_005076.5(CNTN2):c.1203C>T (p.His401=) rs759129965
NM_005076.5(CNTN2):c.1218C>G (p.Ala406=)
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 rs771512123
NM_005076.5(CNTN2):c.1241-14C>T rs950605444
NM_005076.5(CNTN2):c.1308C>A (p.Ile436=) rs1047090212
NM_005076.5(CNTN2):c.1350G>A (p.Val450=)
NM_005076.5(CNTN2):c.1353C>T (p.Leu451=) rs930413630
NM_005076.5(CNTN2):c.135T>C (p.Ser45=) rs2526345619
NM_005076.5(CNTN2):c.1391+13C>A rs761450268
NM_005076.5(CNTN2):c.1391+14C>A rs2151194296
NM_005076.5(CNTN2):c.1391+17A>G
NM_005076.5(CNTN2):c.1391+18C>T rs2526382290
NM_005076.5(CNTN2):c.1391+20C>G rs2526382299
NM_005076.5(CNTN2):c.1392-20C>T rs2526383172
NM_005076.5(CNTN2):c.1392-5C>T rs2526383253
NM_005076.5(CNTN2):c.1458C>T (p.Tyr486=) rs2526384090
NM_005076.5(CNTN2):c.1461C>G (p.Thr487=) rs1292931284
NM_005076.5(CNTN2):c.1506C>T (p.Ile502=)
NM_005076.5(CNTN2):c.1519+15G>A rs770919302
NM_005076.5(CNTN2):c.1519+7G>A rs1346328506
NM_005076.5(CNTN2):c.1520-6T>C
NM_005076.5(CNTN2):c.1542C>T (p.Ala514=) rs1222050124
NM_005076.5(CNTN2):c.1545C>A (p.Pro515=) rs200105942
NM_005076.5(CNTN2):c.1572C>T (p.Asp524=)
NM_005076.5(CNTN2):c.1575C>T (p.Asn525=) rs2526387283
NM_005076.5(CNTN2):c.1596C>T (p.Ala532=) rs1003669995
NM_005076.5(CNTN2):c.1629C>G (p.Thr543=) rs2526388057
NM_005076.5(CNTN2):c.1638G>A (p.Leu546=) rs1439790279
NM_005076.5(CNTN2):c.1647C>T (p.Phe549=) rs2151194902
NM_005076.5(CNTN2):c.1677C>T (p.His559=) rs770974958
NM_005076.5(CNTN2):c.1680C>T (p.Tyr560=) rs983101334
NM_005076.5(CNTN2):c.1695+17G>C
NM_005076.5(CNTN2):c.1696-10C>A rs768884230
NM_005076.5(CNTN2):c.172T>C (p.Leu58=) rs2526345932
NM_005076.5(CNTN2):c.1737G>A (p.Leu579=)
NM_005076.5(CNTN2):c.1746G>C (p.Gly582=) rs756116629
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.1816+15A>C rs1654266364
NM_005076.5(CNTN2):c.1816+8G>A rs764059022
NM_005076.5(CNTN2):c.1817-14A>G rs2526396244
NM_005076.5(CNTN2):c.1817-6G>A
NM_005076.5(CNTN2):c.1845G>A (p.Val615=)
NM_005076.5(CNTN2):c.1926C>T (p.Thr642=) rs747563076
NM_005076.5(CNTN2):c.192G>A (p.Arg64=)
NM_005076.5(CNTN2):c.1962G>A (p.Lys654=) rs748939126
NM_005076.5(CNTN2):c.1975+10A>G rs773175563
NM_005076.5(CNTN2):c.1975+13C>T rs1193047181
NM_005076.5(CNTN2):c.1975+15C>T rs2526397731
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.1989C>T (p.Ile663=) rs573970264
NM_005076.5(CNTN2):c.2001C>G (p.Ala667=)
NM_005076.5(CNTN2):c.2025C>A (p.Leu675=) rs1340029424
NM_005076.5(CNTN2):c.2052G>A (p.Arg684=) rs1654337500
NM_005076.5(CNTN2):c.2064C>T (p.Ser688=) rs2526400666
NM_005076.5(CNTN2):c.2079T>C (p.Thr693=) rs2151196632
NM_005076.5(CNTN2):c.210C>G (p.Thr70=)
NM_005076.5(CNTN2):c.2125+10C>T rs1301103369
NM_005076.5(CNTN2):c.2125+12G>A rs1654344646
NM_005076.5(CNTN2):c.2126-16C>A rs202038605
NM_005076.5(CNTN2):c.2130C>T (p.Pro710=) rs1009461344
NM_005076.5(CNTN2):c.2133G>A (p.Ser711=)
NM_005076.5(CNTN2):c.2136G>A (p.Val712=) rs2526410826
NM_005076.5(CNTN2):c.216-19C>T rs2526346986
NM_005076.5(CNTN2):c.216-6C>A
NM_005076.5(CNTN2):c.2175A>T (p.Gly725=)
NM_005076.5(CNTN2):c.2184C>T (p.Ile728=) rs2526411322
NM_005076.5(CNTN2):c.2196+7T>G rs1654476200
NM_005076.5(CNTN2):c.2197-4_2197-3dup
NM_005076.5(CNTN2):c.2197-7C>T rs1051058653
NM_005076.5(CNTN2):c.2220C>T (p.Asn740=)
NM_005076.5(CNTN2):c.222G>A (p.Lys74=) rs2526347118
NM_005076.5(CNTN2):c.2241G>A (p.Leu747=) rs776132190
NM_005076.5(CNTN2):c.2289G>A (p.Val763=)
NM_005076.5(CNTN2):c.2304C>T (p.Ala768=) rs2526413886
NM_005076.5(CNTN2):c.2337G>T (p.Arg779=)
NM_005076.5(CNTN2):c.2349C>T (p.Pro783=) rs2526414175
NM_005076.5(CNTN2):c.2385G>A (p.Gly795=)
NM_005076.5(CNTN2):c.2394C>T (p.Pro798=) rs760185106
NM_005076.5(CNTN2):c.2412C>T (p.Leu804=) rs753589096
NM_005076.5(CNTN2):c.2431+18_2431+19insA rs2526415091
NM_005076.5(CNTN2):c.2432-19A>T rs1404398394
NM_005076.5(CNTN2):c.2445C>G (p.Ala815=) rs755394528
NM_005076.5(CNTN2):c.2448T>C (p.Pro816=) rs2526417388
NM_005076.5(CNTN2):c.2484G>A (p.Glu828=)
NM_005076.5(CNTN2):c.2496C>T (p.Thr832=) rs769591468
NM_005076.5(CNTN2):c.2517C>T (p.Asp839=) rs1654538290
NM_005076.5(CNTN2):c.2544+11A>G
NM_005076.5(CNTN2):c.2544+14T>G rs2526418275
NM_005076.5(CNTN2):c.2544+20T>G rs1654541415
NM_005076.5(CNTN2):c.2544+9C>T rs1373884737
NM_005076.5(CNTN2):c.2545-16C>T rs2151199908
NM_005076.5(CNTN2):c.2545-20G>C rs749089664
NM_005076.5(CNTN2):c.2550C>G (p.Arg850=) rs2526423857
NM_005076.5(CNTN2):c.2589A>G (p.Arg863=) rs1452001260
NM_005076.5(CNTN2):c.2673C>T (p.Tyr891=) rs2526424673
NM_005076.5(CNTN2):c.2676C>T (p.Asn892=) rs1417604503
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.2715C>T (p.Ala905=) rs748002055
NM_005076.5(CNTN2):c.2718G>A (p.Thr906=) rs916758253
NM_005076.5(CNTN2):c.2718G>T (p.Thr906=) rs916758253
NM_005076.5(CNTN2):c.2721C>T (p.Thr907=) rs948300529
NM_005076.5(CNTN2):c.2731+15C>T
NM_005076.5(CNTN2):c.2731+19G>T rs2151200154
NM_005076.5(CNTN2):c.2732-12C>T rs2526426759
NM_005076.5(CNTN2):c.273G>C (p.Val91=) rs780284181
NM_005076.5(CNTN2):c.273G>T (p.Val91=) rs780284181
NM_005076.5(CNTN2):c.2778T>C (p.Ser926=) rs374194279
NM_005076.5(CNTN2):c.2784T>C (p.Leu928=) rs1354778874
NM_005076.5(CNTN2):c.2802T>C (p.Pro934=)
NM_005076.5(CNTN2):c.2811T>C (p.Pro937=) rs2526427328
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=) rs141466578
NM_005076.5(CNTN2):c.283C>T (p.Leu95=) rs2151189280
NM_005076.5(CNTN2):c.2845-4A>G
NM_005076.5(CNTN2):c.2859T>C (p.Asn953=)
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=) rs2526431330
NM_005076.5(CNTN2):c.2988A>G (p.Ala996=) rs2526431358
NM_005076.5(CNTN2):c.3000C>A (p.Ile1000=) rs947096199
NM_005076.5(CNTN2):c.3000C>T (p.Ile1000=) rs947096199
NM_005076.5(CNTN2):c.3013+14C>T rs2151200888
NM_005076.5(CNTN2):c.3013+15C>T rs2526431600
NM_005076.5(CNTN2):c.3013+17A>G rs1654688818
NM_005076.5(CNTN2):c.3013+19C>G rs1171662666
NM_005076.5(CNTN2):c.3014-13G>C rs373723897
NM_005076.5(CNTN2):c.3014-15T>G
NM_005076.5(CNTN2):c.3014-17G>A rs1384827954
NM_005076.5(CNTN2):c.3014-20_3014-19del
NM_005076.5(CNTN2):c.3042A>T (p.Ala1014=) rs1654715974
NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=) rs975151766
NM_005076.5(CNTN2):c.306G>A (p.Lys102=) rs755421629
NM_005076.5(CNTN2):c.3072C>T (p.Val1024=) rs2151201250
NM_005076.5(CNTN2):c.3087G>C (p.Val1029=) rs747629348
NM_005076.5(CNTN2):c.3096G>A (p.Leu1032=)
NM_005076.5(CNTN2):c.3099C>T (p.Ile1033=) rs368955126
NM_005076.5(CNTN2):c.318C>G (p.Ala106=) rs372422500
NM_005076.5(CNTN2):c.333C>T (p.Cys111=)
NM_005076.5(CNTN2):c.391+15G>C
NM_005076.5(CNTN2):c.391+18C>T rs2526348410
NM_005076.5(CNTN2):c.391+7C>G rs1318869557
NM_005076.5(CNTN2):c.391+8C>G rs2526348310
NM_005076.5(CNTN2):c.392-19C>T rs2151189586
NM_005076.5(CNTN2):c.392-7C>T
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.450G>A (p.Gly150=)
NM_005076.5(CNTN2):c.487+12C>G rs989881388
NM_005076.5(CNTN2):c.487+15G>A
NM_005076.5(CNTN2):c.487+20C>T rs201600070
NM_005076.5(CNTN2):c.488-12C>T
NM_005076.5(CNTN2):c.488-17A>C rs747845333
NM_005076.5(CNTN2):c.488-4C>T rs2526352679
NM_005076.5(CNTN2):c.51G>A (p.Val17=) rs2151185969
NM_005076.5(CNTN2):c.534G>C (p.Pro178=) rs151020999
NM_005076.5(CNTN2):c.543G>A (p.Gly181=)
NM_005076.5(CNTN2):c.543G>C (p.Gly181=) rs145237574
NM_005076.5(CNTN2):c.555G>C (p.Val185=) rs2151190097
NM_005076.5(CNTN2):c.57T>C (p.Leu19=) rs959699568
NM_005076.5(CNTN2):c.618C>G (p.Ser206=) rs1653833334
NM_005076.5(CNTN2):c.690T>C (p.Ala230=) rs1182147073
NM_005076.5(CNTN2):c.697+11G>A rs773468067
NM_005076.5(CNTN2):c.697+18G>A rs872379
NM_005076.5(CNTN2):c.697+8_697+10dup
NM_005076.5(CNTN2):c.698-12C>G
NM_005076.5(CNTN2):c.698-13C>A rs201293184
NM_005076.5(CNTN2):c.698-14C>T rs909165812
NM_005076.5(CNTN2):c.698-20G>A
NM_005076.5(CNTN2):c.70+8G>A rs2526329618
NM_005076.5(CNTN2):c.71-19G>T rs762328579
NM_005076.5(CNTN2):c.71-6C>A rs749400715
NM_005076.5(CNTN2):c.71-7C>T rs2151188960
NM_005076.5(CNTN2):c.747C>T (p.Thr249=)
NM_005076.5(CNTN2):c.750T>C (p.Tyr250=)
NM_005076.5(CNTN2):c.756G>A (p.Leu252=) rs1389797630
NM_005076.5(CNTN2):c.762G>C (p.Gly254=) rs1653864841
NM_005076.5(CNTN2):c.792T>C (p.Phe264=) rs183799891
NM_005076.5(CNTN2):c.797+14G>A rs2526356730
NM_005076.5(CNTN2):c.797+19G>A
NM_005076.5(CNTN2):c.798-8C>T
NM_005076.5(CNTN2):c.801T>G (p.Pro267=)
NM_005076.5(CNTN2):c.816G>A (p.Lys272=) rs1239558983
NM_005076.5(CNTN2):c.900T>C (p.Asp300=) rs2526364483
NM_005076.5(CNTN2):c.924G>A (p.Ala308=)
NM_005076.5(CNTN2):c.948C>T (p.Thr316=) rs542983417
NM_005076.5(CNTN2):c.973+13G>C rs2151192001
NM_005076.5(CNTN2):c.974-18T>A
NM_005076.5(CNTN2):c.99C>T (p.Thr33=) rs990929937

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