ClinVar Miner

List of variants in gene CNTNAP2 reported as likely benign for cortical dysplasia-focal epilepsy syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 518
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.*3540G>A rs114585910 0.02773
NM_014141.6(CNTNAP2):c.*2151A>G rs28369221 0.02742
NM_014141.6(CNTNAP2):c.*2875dup rs138367128 0.02522
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_014141.6(CNTNAP2):c.*3921G>A rs141005348 0.01856
NM_014141.6(CNTNAP2):c.*2665C>T rs7791181 0.01854
NC_000007.14:g.146115955T>G rs150447075 0.01787
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_014141.6(CNTNAP2):c.*48G>A rs78018010 0.01715
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_014141.6(CNTNAP2):c.*4071G>A rs147886818 0.00288
NM_014141.6(CNTNAP2):c.*3433G>A rs142623983 0.00279
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala) rs111599875 0.00235
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960 0.00063
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.*3796C>T rs183556756 0.00053
NM_014141.6(CNTNAP2):c.2705C>T (p.Pro902Leu) rs202095023 0.00050
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057 0.00048
NM_014141.6(CNTNAP2):c.1897+18A>G rs139242986 0.00041
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
NM_014141.6(CNTNAP2):c.3247+15A>G rs201602527 0.00036
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_014141.6(CNTNAP2):c.633C>A (p.Val211=) rs140505542 0.00032
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012 0.00030
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=) rs150607716 0.00029
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012 0.00026
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062 0.00019
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400 0.00019
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=) rs143507886 0.00019
NM_014141.6(CNTNAP2):c.940-17A>T rs374812409 0.00019
NM_014141.6(CNTNAP2):c.*1482A>T rs186254614 0.00018
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala) rs142434274 0.00018
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_014141.6(CNTNAP2):c.1863T>A (p.Pro621=) rs184065921 0.00016
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_014141.6(CNTNAP2):c.3903G>A (p.Ala1301=) rs146206159 0.00016
NM_014141.6(CNTNAP2):c.551-10T>G rs1010423307 0.00015
NM_014141.6(CNTNAP2):c.1897+8T>A rs769157591 0.00014
NM_014141.6(CNTNAP2):c.3741A>C (p.Pro1247=) rs141772824 0.00014
NM_014141.6(CNTNAP2):c.1083+16C>T rs371536143 0.00013
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_014141.6(CNTNAP2):c.209-11C>T rs369056998 0.00013
NM_014141.6(CNTNAP2):c.939+14C>T rs370916766 0.00013
NM_014141.6(CNTNAP2):c.98-20T>G rs199901768 0.00013
NM_014141.6(CNTNAP2):c.2517T>C (p.Asn839=) rs143358892 0.00012
NM_014141.6(CNTNAP2):c.2255+13G>A rs201258989 0.00011
NM_014141.6(CNTNAP2):c.3381+20T>C rs587780902 0.00011
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014141.6(CNTNAP2):c.1851T>C (p.Asp617=) rs150218065 0.00009
NM_014141.6(CNTNAP2):c.939+8T>A rs199994339 0.00008
NM_014141.6(CNTNAP2):c.208+20T>G rs928114479 0.00007
NM_014141.6(CNTNAP2):c.2400C>T (p.Ala800=) rs568803366 0.00007
NM_014141.6(CNTNAP2):c.2706G>A (p.Pro902=) rs537291804 0.00007
NM_014141.6(CNTNAP2):c.3234C>T (p.Leu1078=) rs199563642 0.00007
NM_014141.6(CNTNAP2):c.3360C>T (p.His1120=) rs563414260 0.00007
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=) rs776956365 0.00007
NM_014141.6(CNTNAP2):c.939+15G>A rs148632792 0.00007
NM_014141.6(CNTNAP2):c.1083+17G>A rs112266985 0.00006
NM_014141.6(CNTNAP2):c.1632C>T (p.Phe544=) rs778731812 0.00006
NM_014141.6(CNTNAP2):c.1898-9T>C rs372830287 0.00006
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883 0.00006
NM_014141.6(CNTNAP2):c.3476-9T>G rs998363584 0.00006
NM_014141.6(CNTNAP2):c.3576C>T (p.Ala1192=) rs764089965 0.00006
NM_014141.6(CNTNAP2):c.3796+8A>T rs370450725 0.00006
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00006
NM_014141.6(CNTNAP2):c.755-6A>T rs376466129 0.00006
NM_014141.6(CNTNAP2):c.2554+14G>T rs546437079 0.00005
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_014141.6(CNTNAP2):c.3417A>G (p.Pro1139=) rs368474520 0.00005
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792 0.00005
NM_014141.6(CNTNAP2):c.1062G>A (p.Lys354=) rs1034170979 0.00004
NM_014141.6(CNTNAP2):c.1161C>T (p.Pro387=) rs755129419 0.00004
NM_014141.6(CNTNAP2):c.1349-8C>T rs373995666 0.00004
NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=) rs146873712 0.00004
NM_014141.6(CNTNAP2):c.1635G>A (p.Ala545=) rs755959345 0.00004
NM_014141.6(CNTNAP2):c.1670+16A>G rs983146873 0.00004
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=) rs145162968 0.00004
NM_014141.6(CNTNAP2):c.2383+15C>T rs748783925 0.00004
NM_014141.6(CNTNAP2):c.3248-17T>A rs199753492 0.00004
NM_014141.6(CNTNAP2):c.354C>T (p.Ser118=) rs141831869 0.00004
NM_014141.6(CNTNAP2):c.3561C>T (p.Ile1187=) rs775209615 0.00004
NM_014141.6(CNTNAP2):c.3642C>T (p.Cys1214=) rs200044865 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014141.6(CNTNAP2):c.3909G>A (p.Ser1303=) rs371838145 0.00004
NM_014141.6(CNTNAP2):c.894C>T (p.His298=) rs200961501 0.00004
NM_014141.6(CNTNAP2):c.1116T>C (p.Tyr372=) rs755592359 0.00003
NM_014141.6(CNTNAP2):c.1377C>T (p.His459=) rs377678020 0.00003
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147 0.00003
NM_014141.6(CNTNAP2):c.1670+19C>T rs1014911295 0.00003
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=) rs753396304 0.00003
NM_014141.6(CNTNAP2):c.2046C>T (p.Cys682=) rs201076428 0.00003
NM_014141.6(CNTNAP2):c.209-12G>C rs373492025 0.00003
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=) rs758102050 0.00003
NM_014141.6(CNTNAP2):c.234C>T (p.Asp78=) rs757110790 0.00003
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909 0.00003
NM_014141.6(CNTNAP2):c.3426C>G (p.Ser1142=) rs749926530 0.00003
NM_014141.6(CNTNAP2):c.3654G>A (p.Pro1218=) rs141764220 0.00003
NM_014141.6(CNTNAP2):c.3783G>A (p.Ser1261=) rs778395783 0.00003
NM_014141.6(CNTNAP2):c.3796+16A>G rs776699175 0.00003
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134 0.00003
NM_014141.6(CNTNAP2):c.3873C>A (p.Gly1291=) rs780026745 0.00003
NM_014141.6(CNTNAP2):c.3942C>T (p.Asn1314=) rs757442166 0.00003
NM_014141.6(CNTNAP2):c.718C>T (p.Leu240=) rs538043826 0.00003
NM_014141.6(CNTNAP2):c.924G>A (p.Leu308=) rs769347712 0.00003
NM_014141.6(CNTNAP2):c.1068A>G (p.Leu356=) rs773110260 0.00002
NM_014141.6(CNTNAP2):c.1166G>A (p.Arg389Gln) rs548409884 0.00002
NM_014141.6(CNTNAP2):c.1248G>A (p.Ala416=) rs779901891 0.00002
NM_014141.6(CNTNAP2):c.1479C>T (p.Gly493=) rs779384498 0.00002
NM_014141.6(CNTNAP2):c.1569C>A (p.Leu523=) rs1374907989 0.00002
NM_014141.6(CNTNAP2):c.1602C>T (p.Tyr534=) rs144620232 0.00002
NM_014141.6(CNTNAP2):c.1848T>C (p.Pro616=) rs750082302 0.00002
NM_014141.6(CNTNAP2):c.2091C>T (p.Asn697=) rs752979097 0.00002
NM_014141.6(CNTNAP2):c.2255+12C>T rs749270618 0.00002
NM_014141.6(CNTNAP2):c.2295G>A (p.Leu765=) rs985931303 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014141.6(CNTNAP2):c.2391T>C (p.Tyr797=) rs562833882 0.00002
NM_014141.6(CNTNAP2):c.2634C>T (p.Asn878=) rs759887207 0.00002
NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=) rs756947754 0.00002
NM_014141.6(CNTNAP2):c.3303C>T (p.Asp1101=) rs772181075 0.00002
NM_014141.6(CNTNAP2):c.3540C>T (p.Ser1180=) rs377629345 0.00002
NM_014141.6(CNTNAP2):c.3570C>T (p.Leu1190=) rs753712741 0.00002
NM_014141.6(CNTNAP2):c.3873C>T (p.Gly1291=) rs780026745 0.00002
NM_014141.6(CNTNAP2):c.3990C>T (p.Leu1330=) rs1057522590 0.00002
NM_014141.6(CNTNAP2):c.444C>T (p.His148=) rs750661428 0.00002
NM_014141.6(CNTNAP2):c.45G>A (p.Leu15=) rs1315315089 0.00002
NM_014141.6(CNTNAP2):c.654G>A (p.Thr218=) rs776620656 0.00002
NM_014141.6(CNTNAP2):c.855G>A (p.Gly285=) rs372386633 0.00002
NM_014141.6(CNTNAP2):c.1107G>A (p.Val369=) rs1801390228 0.00001
NM_014141.6(CNTNAP2):c.1122G>A (p.Val374=) rs1331624813 0.00001
NM_014141.6(CNTNAP2):c.1150C>T (p.Leu384=) rs952522529 0.00001
NM_014141.6(CNTNAP2):c.117T>G (p.Leu39=) rs969515416 0.00001
NM_014141.6(CNTNAP2):c.1263T>C (p.Asn421=) rs369718091 0.00001
NM_014141.6(CNTNAP2):c.1320C>A (p.Thr440=) rs994508015 0.00001
NM_014141.6(CNTNAP2):c.1335C>T (p.Ile445=) rs749205725 0.00001
NM_014141.6(CNTNAP2):c.1389C>T (p.Phe463=) rs371242079 0.00001
NM_014141.6(CNTNAP2):c.1413T>A (p.Ile471=) rs376233595 0.00001
NM_014141.6(CNTNAP2):c.1422C>T (p.Ile474=) rs905342266 0.00001
NM_014141.6(CNTNAP2):c.1461C>T (p.Pro487=) rs749593948 0.00001
NM_014141.6(CNTNAP2):c.1498+12A>G rs759279243 0.00001
NM_014141.6(CNTNAP2):c.1498+8T>C rs554990971 0.00001
NM_014141.6(CNTNAP2):c.1499-20C>T rs375149841 0.00001
NM_014141.6(CNTNAP2):c.1590T>A (p.Leu530=) rs759596073 0.00001
NM_014141.6(CNTNAP2):c.1777+9C>T rs773304645 0.00001
NM_014141.6(CNTNAP2):c.1778-7G>A rs771225636 0.00001
NM_014141.6(CNTNAP2):c.1857C>T (p.Ser619=) rs753699122 0.00001
NM_014141.6(CNTNAP2):c.18C>A (p.Arg6=) rs748908765 0.00001
NM_014141.6(CNTNAP2):c.1926T>C (p.His642=) rs1400611536 0.00001
NM_014141.6(CNTNAP2):c.1989C>T (p.Leu663=) rs766429279 0.00001
NM_014141.6(CNTNAP2):c.2055T>C (p.Tyr685=) rs376744436 0.00001
NM_014141.6(CNTNAP2):c.208+19C>A rs781480662 0.00001
NM_014141.6(CNTNAP2):c.2100T>C (p.Asp700=) rs1240494550 0.00001
NM_014141.6(CNTNAP2):c.2112C>T (p.Tyr704=) rs769916010 0.00001
NM_014141.6(CNTNAP2):c.2127C>A (p.Gly709=) rs762250248 0.00001
NM_014141.6(CNTNAP2):c.2196C>T (p.Ile732=) rs769830314 0.00001
NM_014141.6(CNTNAP2):c.2255+17A>C rs1381485479 0.00001
NM_014141.6(CNTNAP2):c.2307A>G (p.Gln769=) rs761592112 0.00001
NM_014141.6(CNTNAP2):c.2355C>T (p.Ser785=) rs755203479 0.00001
NM_014141.6(CNTNAP2):c.2364T>A (p.Pro788=) rs1801459664 0.00001
NM_014141.6(CNTNAP2):c.2541G>A (p.Lys847=) rs746676806 0.00001
NM_014141.6(CNTNAP2):c.2553G>A (p.Lys851=) rs759413523 0.00001
NM_014141.6(CNTNAP2):c.2601A>T (p.Val867=) rs1805210722 0.00001
NM_014141.6(CNTNAP2):c.2604G>A (p.Glu868=) rs267601389 0.00001
NM_014141.6(CNTNAP2):c.2703A>G (p.Leu901=) rs1805213957 0.00001
NM_014141.6(CNTNAP2):c.2715C>A (p.Ile905=) rs771064683 0.00001
NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=) rs773595457 0.00001
NM_014141.6(CNTNAP2):c.2773+17T>C rs1805217941 0.00001
NM_014141.6(CNTNAP2):c.2773+9T>C rs1433023482 0.00001
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=) rs761663690 0.00001
NM_014141.6(CNTNAP2):c.3198C>T (p.Tyr1066=) rs772842467 0.00001
NM_014141.6(CNTNAP2):c.3248-10T>C rs999378427 0.00001
NM_014141.6(CNTNAP2):c.3248-6C>A rs761966497 0.00001
NM_014141.6(CNTNAP2):c.3252C>T (p.Ser1084=) rs893619983 0.00001
NM_014141.6(CNTNAP2):c.3345C>T (p.Val1115=) rs1060504951 0.00001
NM_014141.6(CNTNAP2):c.336A>G (p.Gln112=) rs767427590 0.00001
NM_014141.6(CNTNAP2):c.3381+8T>G rs1457382578 0.00001
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=) rs727503877 0.00001
NM_014141.6(CNTNAP2):c.3475+15C>T rs201902109 0.00001
NM_014141.6(CNTNAP2):c.3475+16G>A rs193228886 0.00001
NM_014141.6(CNTNAP2):c.3476-7C>T rs1057520468 0.00001
NM_014141.6(CNTNAP2):c.3552C>T (p.Phe1184=) rs1400914792 0.00001
NM_014141.6(CNTNAP2):c.3606C>T (p.His1202=) rs771490764 0.00001
NM_014141.6(CNTNAP2):c.3612C>T (p.His1204=) rs1370624528 0.00001
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=) rs377455159 0.00001
NM_014141.6(CNTNAP2):c.3684C>T (p.Thr1228=) rs772119154 0.00001
NM_014141.6(CNTNAP2):c.3738T>C (p.Asn1246=) rs763106283 0.00001
NM_014141.6(CNTNAP2):c.3834C>T (p.Thr1278=) rs147111339 0.00001
NM_014141.6(CNTNAP2):c.3924C>T (p.Asp1308=) rs766175195 0.00001
NM_014141.6(CNTNAP2):c.3939C>T (p.Asn1313=) rs777786908 0.00001
NM_014141.6(CNTNAP2):c.432T>C (p.Gly144=) rs757354647 0.00001
NM_014141.6(CNTNAP2):c.477G>C (p.Val159=) rs759357451 0.00001
NM_014141.6(CNTNAP2):c.540C>A (p.Gly180=) rs1584801246 0.00001
NM_014141.6(CNTNAP2):c.591A>G (p.Pro197=) rs147652359 0.00001
NM_014141.6(CNTNAP2):c.678G>T (p.Leu226=) rs1426929550 0.00001
NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=) rs767033703 0.00001
NM_014141.6(CNTNAP2):c.741C>G (p.Leu247=) rs540045509 0.00001
NM_014141.6(CNTNAP2):c.754+14G>C rs745882468 0.00001
NM_014141.6(CNTNAP2):c.755-4G>A rs756256467 0.00001
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=) rs886062049 0.00001
NM_014141.6(CNTNAP2):c.936T>C (p.Tyr312=) rs774997884 0.00001
NM_014141.6(CNTNAP2):c.939+16T>C rs767517345 0.00001
NM_014141.6(CNTNAP2):c.9G>C (p.Ala3=) rs1237807319 0.00001
NM_014141.6(CNTNAP2):c.*1276_*1280dup rs369615005
NM_014141.6(CNTNAP2):c.*2260C>A rs186600344
NM_014141.6(CNTNAP2):c.*818dup rs145690138
NM_014141.6(CNTNAP2):c.1020C>T (p.Ile340=)
NM_014141.6(CNTNAP2):c.1083+15C>T
NM_014141.6(CNTNAP2):c.1083+16C>G
NM_014141.6(CNTNAP2):c.1083+17G>C
NM_014141.6(CNTNAP2):c.1083+17G>T
NM_014141.6(CNTNAP2):c.1083+18C>G
NM_014141.6(CNTNAP2):c.1084-12del rs1801388833
NM_014141.6(CNTNAP2):c.1084-17G>A rs1478993452
NM_014141.6(CNTNAP2):c.1084-17G>T
NM_014141.6(CNTNAP2):c.1084-4A>G
NM_014141.6(CNTNAP2):c.1084-8T>C rs1451561916
NM_014141.6(CNTNAP2):c.108T>C (p.Asp36=)
NM_014141.6(CNTNAP2):c.1095C>T (p.Ser365=)
NM_014141.6(CNTNAP2):c.1101T>C (p.Ser367=) rs750626971
NM_014141.6(CNTNAP2):c.1104T>C (p.Cys368=)
NM_014141.6(CNTNAP2):c.111G>A (p.Glu37=) rs2129185956
NM_014141.6(CNTNAP2):c.114A>C (p.Pro38=)
NM_014141.6(CNTNAP2):c.1161C>A (p.Pro387=) rs755129419
NM_014141.6(CNTNAP2):c.1165C>A (p.Arg389=) rs375172684
NM_014141.6(CNTNAP2):c.1173C>T (p.Asn391=)
NM_014141.6(CNTNAP2):c.1182G>C (p.Leu394=) rs773478974
NM_014141.6(CNTNAP2):c.1191C>T (p.Val397=) rs1490434881
NM_014141.6(CNTNAP2):c.1209A>G (p.Thr403=)
NM_014141.6(CNTNAP2):c.1215C>T (p.Asn405=)
NM_014141.6(CNTNAP2):c.1227C>A (p.Leu409=) rs756898951
NM_014141.6(CNTNAP2):c.1227C>T (p.Leu409=) rs756898951
NM_014141.6(CNTNAP2):c.1255T>C (p.Leu419=)
NM_014141.6(CNTNAP2):c.1278C>T (p.Leu426=)
NM_014141.6(CNTNAP2):c.1296T>C (p.Gly432=) rs756812096
NM_014141.6(CNTNAP2):c.1299T>G (p.Val433=) rs1315845582
NM_014141.6(CNTNAP2):c.132C>G (p.Pro44=)
NM_014141.6(CNTNAP2):c.1348+11C>A rs1447717786
NM_014141.6(CNTNAP2):c.1348+13T>C rs200282837
NM_014141.6(CNTNAP2):c.1348+13T>G rs200282837
NM_014141.6(CNTNAP2):c.1348+17T>A
NM_014141.6(CNTNAP2):c.1349-18_1349-17del
NM_014141.6(CNTNAP2):c.1353T>C (p.Ser451=) rs1794916255
NM_014141.6(CNTNAP2):c.135T>C (p.His45=) rs1328339613
NM_014141.6(CNTNAP2):c.1380G>A (p.Glu460=)
NM_014141.6(CNTNAP2):c.1476T>G (p.Thr492=) rs768890589
NM_014141.6(CNTNAP2):c.1479C>G (p.Gly493=) rs779384498
NM_014141.6(CNTNAP2):c.1491T>C (p.Phe497=)
NM_014141.6(CNTNAP2):c.1498+12A>C
NM_014141.6(CNTNAP2):c.1498+13T>C
NM_014141.6(CNTNAP2):c.1498+15C>G
NM_014141.6(CNTNAP2):c.1521C>T (p.Asn507=)
NM_014141.6(CNTNAP2):c.1539T>C (p.Leu513=)
NM_014141.6(CNTNAP2):c.1548A>C (p.Ser516=) rs2116453922
NM_014141.6(CNTNAP2):c.1584T>C (p.Asp528=) rs2116454008
NM_014141.6(CNTNAP2):c.1608G>A (p.Val536=)
NM_014141.6(CNTNAP2):c.1641C>A (p.Val547=) rs1584922920
NM_014141.6(CNTNAP2):c.1650C>T (p.Asp550=) rs201429837
NM_014141.6(CNTNAP2):c.165T>C (p.Ser55=)
NM_014141.6(CNTNAP2):c.1670+18C>G
NM_014141.6(CNTNAP2):c.1671-16TC[4]
NM_014141.6(CNTNAP2):c.1671-16TC[6] rs750335827
NM_014141.6(CNTNAP2):c.1671-17G>C
NM_014141.6(CNTNAP2):c.1677G>A (p.Val559=) rs2116638004
NM_014141.6(CNTNAP2):c.1692G>A (p.Glu564=) rs1798502244
NM_014141.6(CNTNAP2):c.1698T>C (p.Gly566=) rs200784164
NM_014141.6(CNTNAP2):c.1704G>A (p.Lys568=)
NM_014141.6(CNTNAP2):c.1707C>T (p.Cys569=)
NM_014141.6(CNTNAP2):c.171C>T (p.Ser57=)
NM_014141.6(CNTNAP2):c.1758T>C (p.Ser586=)
NM_014141.6(CNTNAP2):c.1761G>A (p.Gly587=)
NM_014141.6(CNTNAP2):c.1776C>T (p.Asn592=) rs1798504381
NM_014141.6(CNTNAP2):c.1777+11A>G
NM_014141.6(CNTNAP2):c.1777+15A>G
NM_014141.6(CNTNAP2):c.1777+8C>T
NM_014141.6(CNTNAP2):c.1778-12T>C
NM_014141.6(CNTNAP2):c.1778-19G>A
NM_014141.6(CNTNAP2):c.1778-7G>C rs771225636
NM_014141.6(CNTNAP2):c.1785C>T (p.Tyr595=)
NM_014141.6(CNTNAP2):c.1854C>A (p.Gly618=) rs61732849
NM_014141.6(CNTNAP2):c.186T>C (p.Tyr62=)
NM_014141.6(CNTNAP2):c.1875G>C (p.Leu625=)
NM_014141.6(CNTNAP2):c.1887C>T (p.Cys629=)
NM_014141.6(CNTNAP2):c.1897+19T>C
NM_014141.6(CNTNAP2):c.1897+7G>C
NM_014141.6(CNTNAP2):c.1897+8T>C rs769157591
NM_014141.6(CNTNAP2):c.1897+8T>G
NM_014141.6(CNTNAP2):c.1897+9_1897+10del rs1235521093
NM_014141.6(CNTNAP2):c.1898-14T>C rs1305401871
NM_014141.6(CNTNAP2):c.1898-20G>A
NM_014141.6(CNTNAP2):c.1898-7C>T rs2116923825
NM_014141.6(CNTNAP2):c.1920G>A (p.Val640=) rs1310899921
NM_014141.6(CNTNAP2):c.1983A>C (p.Thr661=) rs2116924026
NM_014141.6(CNTNAP2):c.1992T>C (p.Val664=) rs1584873096
NM_014141.6(CNTNAP2):c.1995C>T (p.Tyr665=)
NM_014141.6(CNTNAP2):c.2031C>T (p.Asp677=)
NM_014141.6(CNTNAP2):c.2037C>T (p.Ala679=)
NM_014141.6(CNTNAP2):c.2043C>T (p.Tyr681=) rs779865638
NM_014141.6(CNTNAP2):c.2058C>G (p.Val686=)
NM_014141.6(CNTNAP2):c.2079A>C (p.Ser693=)
NM_014141.6(CNTNAP2):c.208+15G>A
NM_014141.6(CNTNAP2):c.208+19C>G rs781480662
NM_014141.6(CNTNAP2):c.208+8A>G rs1483805777
NM_014141.6(CNTNAP2):c.208+9A>G rs2129185986
NM_014141.6(CNTNAP2):c.209-10C>A rs376757262
NM_014141.6(CNTNAP2):c.209-11C>G
NM_014141.6(CNTNAP2):c.209-16C>T
NM_014141.6(CNTNAP2):c.209-18A>G rs1335943671
NM_014141.6(CNTNAP2):c.2094C>T (p.Thr698=)
NM_014141.6(CNTNAP2):c.2098+10G>A
NM_014141.6(CNTNAP2):c.2098+13T>C
NM_014141.6(CNTNAP2):c.2099-14G>T rs2116752056
NM_014141.6(CNTNAP2):c.2099-16T>C
NM_014141.6(CNTNAP2):c.2099-18_2099-16del rs2116752044
NM_014141.6(CNTNAP2):c.2099-19C>T
NM_014141.6(CNTNAP2):c.2099-6T>G
NM_014141.6(CNTNAP2):c.210T>C (p.Gly70=)
NM_014141.6(CNTNAP2):c.2124T>A (p.Val708=)
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.2142G>A (p.Lys714=) rs2116752218
NM_014141.6(CNTNAP2):c.2151C>T (p.Tyr717=)
NM_014141.6(CNTNAP2):c.21C>G (p.Ala7=)
NM_014141.6(CNTNAP2):c.2235C>T (p.Cys745=)
NM_014141.6(CNTNAP2):c.2238C>T (p.Asp746=) rs375648820
NM_014141.6(CNTNAP2):c.2255+10T>C rs2116752613
NM_014141.6(CNTNAP2):c.2255+11_2255+48del rs1292057808
NM_014141.6(CNTNAP2):c.2255+15G>A
NM_014141.6(CNTNAP2):c.2255+16C>A
NM_014141.6(CNTNAP2):c.2255+9C>T rs1585020148
NM_014141.6(CNTNAP2):c.2256-17C>T
NM_014141.6(CNTNAP2):c.2268T>C (p.Ala756=)
NM_014141.6(CNTNAP2):c.2271T>C (p.Gly757=)
NM_014141.6(CNTNAP2):c.2283C>T (p.Tyr761=) rs1316260398
NM_014141.6(CNTNAP2):c.2298A>G (p.Pro766=)
NM_014141.6(CNTNAP2):c.2301G>A (p.Val767=)
NM_014141.6(CNTNAP2):c.231A>G (p.Ser77=)
NM_014141.6(CNTNAP2):c.2367G>A (p.Leu789=) rs1801459710
NM_014141.6(CNTNAP2):c.2383+15C>A rs748783925
NM_014141.6(CNTNAP2):c.2383+17G>C
NM_014141.6(CNTNAP2):c.2384-16T>G
NM_014141.6(CNTNAP2):c.2397T>C (p.Asn799=) rs2116608221
NM_014141.6(CNTNAP2):c.2406T>C (p.Ser802=)
NM_014141.6(CNTNAP2):c.2421C>T (p.Ser807=) rs2116608285
NM_014141.6(CNTNAP2):c.2424C>T (p.Ser808=) rs794727172
NM_014141.6(CNTNAP2):c.2430G>T (p.Leu810=)
NM_014141.6(CNTNAP2):c.2436C>T (p.Phe812=) rs1554474094
NM_014141.6(CNTNAP2):c.2451G>T (p.Gly817=)
NM_014141.6(CNTNAP2):c.2542C>T (p.Leu848=)
NM_014141.6(CNTNAP2):c.2555-19A>G
NM_014141.6(CNTNAP2):c.2555-5T>G
NM_014141.6(CNTNAP2):c.2555-8T>C
NM_014141.6(CNTNAP2):c.2555-9C>T
NM_014141.6(CNTNAP2):c.2571C>A (p.Ser857=)
NM_014141.6(CNTNAP2):c.2571C>T (p.Ser857=) rs984523547
NM_014141.6(CNTNAP2):c.2574T>C (p.Phe858=)
NM_014141.6(CNTNAP2):c.2595G>T (p.Gly865=)
NM_014141.6(CNTNAP2):c.2631C>G (p.Leu877=) rs1805211746
NM_014141.6(CNTNAP2):c.2637T>C (p.Asp879=) rs2116652516
NM_014141.6(CNTNAP2):c.2643G>A (p.Gln881=)
NM_014141.6(CNTNAP2):c.2658T>C (p.Thr886=)
NM_014141.6(CNTNAP2):c.267T>C (p.Phe89=)
NM_014141.6(CNTNAP2):c.2698C>A (p.Arg900=) rs375318010
NM_014141.6(CNTNAP2):c.2736C>T (p.Gly912=)
NM_014141.6(CNTNAP2):c.2748G>A (p.Leu916=)
NM_014141.6(CNTNAP2):c.2757C>T (p.Tyr919=) rs776301924
NM_014141.6(CNTNAP2):c.2764T>C (p.Leu922=) rs2116652809
NM_014141.6(CNTNAP2):c.2773+19A>G rs2116652847
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly) rs540745201
NM_014141.6(CNTNAP2):c.300C>T (p.Thr100=) rs2129200506
NM_014141.6(CNTNAP2):c.3011-21TC[4]
NM_014141.6(CNTNAP2):c.3011-6T>A
NM_014141.6(CNTNAP2):c.3021A>G (p.Ala1007=) rs745382478
NM_014141.6(CNTNAP2):c.3036G>A (p.Gly1012=)
NM_014141.6(CNTNAP2):c.3045A>G (p.Leu1015=) rs2116757029
NM_014141.6(CNTNAP2):c.3081A>G (p.Arg1027=) rs1795660554
NM_014141.6(CNTNAP2):c.3120G>A (p.Gln1040=)
NM_014141.6(CNTNAP2):c.3123C>T (p.Asn1041=) rs2116757281
NM_014141.6(CNTNAP2):c.3138G>T (p.Leu1046=) rs2116757311
NM_014141.6(CNTNAP2):c.3180G>C (p.Ala1060=) rs372645983
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3243C>T (p.Pro1081=) rs1795666152
NM_014141.6(CNTNAP2):c.3247+16C>A rs370512570
NM_014141.6(CNTNAP2):c.3247+19A>G
NM_014141.6(CNTNAP2):c.3248-16C>A
NM_014141.6(CNTNAP2):c.3258G>A (p.Gln1086=) rs773491586
NM_014141.6(CNTNAP2):c.3264A>C (p.Arg1088=) rs1585203090
NM_014141.6(CNTNAP2):c.3267C>T (p.Tyr1089=) rs569644838
NM_014141.6(CNTNAP2):c.330G>A (p.Val110=) rs2129200526
NM_014141.6(CNTNAP2):c.3324C>G (p.Ala1108=)
NM_014141.6(CNTNAP2):c.3330A>G (p.Gly1110=)
NM_014141.6(CNTNAP2):c.3357C>T (p.Arg1119=) rs756005016
NM_014141.6(CNTNAP2):c.3381+17A>T
NM_014141.6(CNTNAP2):c.3396T>C (p.Pro1132=)
NM_014141.6(CNTNAP2):c.3408C>T (p.Tyr1136=) rs144003099
NM_014141.6(CNTNAP2):c.3412C>T (p.Leu1138=) rs1055480063
NM_014141.6(CNTNAP2):c.3426C>T (p.Ser1142=)
NM_014141.6(CNTNAP2):c.342G>T (p.Arg114=)
NM_014141.6(CNTNAP2):c.3441T>C (p.Asn1147=) rs2116840572
NM_014141.6(CNTNAP2):c.3453G>A (p.Ser1151=)
NM_014141.6(CNTNAP2):c.3456C>T (p.Leu1152=) rs781282185
NM_014141.6(CNTNAP2):c.3465A>G (p.Gly1155=) rs1585228737
NM_014141.6(CNTNAP2):c.3475+11G>C
NM_014141.6(CNTNAP2):c.3475+15C>A
NM_014141.6(CNTNAP2):c.3475+18T>C rs2116840665
NM_014141.6(CNTNAP2):c.3476-12_3476-8del rs778811922
NM_014141.6(CNTNAP2):c.3476-13T>C
NM_014141.6(CNTNAP2):c.3476-15_3476-12dup rs1554427506
NM_014141.6(CNTNAP2):c.3480A>G (p.Thr1160=)
NM_014141.6(CNTNAP2):c.348C>G (p.Leu116=) rs1344490369
NM_014141.6(CNTNAP2):c.3537C>G (p.Leu1179=)
NM_014141.6(CNTNAP2):c.3558G>A (p.Gln1186=) rs1563066657
NM_014141.6(CNTNAP2):c.3582G>A (p.Leu1194=)
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3625C>T (p.Leu1209=)
NM_014141.6(CNTNAP2):c.3648C>G (p.Ala1216=) rs1252540894
NM_014141.6(CNTNAP2):c.3660C>A (p.Thr1220=) rs573467341
NM_014141.6(CNTNAP2):c.3663C>T (p.Leu1221=)
NM_014141.6(CNTNAP2):c.3669C>G (p.Pro1223=)
NM_014141.6(CNTNAP2):c.3669C>T (p.Pro1223=)
NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3705C>T (p.His1235=)
NM_014141.6(CNTNAP2):c.3715+16A>G rs1185254540
NM_014141.6(CNTNAP2):c.3715+23_3715+51del
NM_014141.6(CNTNAP2):c.3716-12C>A
NM_014141.6(CNTNAP2):c.3716-13_3716-12insATTT rs750528859
NM_014141.6(CNTNAP2):c.3716-16_3716-15del
NM_014141.6(CNTNAP2):c.3716-20G>C
NM_014141.6(CNTNAP2):c.3716-4A>G
NM_014141.6(CNTNAP2):c.3716-7_3716-6insTTCC rs1585354260
NM_014141.6(CNTNAP2):c.3732A>G (p.Pro1244=) rs1277923465
NM_014141.6(CNTNAP2):c.3741A>G (p.Pro1247=) rs141772824
NM_014141.6(CNTNAP2):c.3756T>C (p.Ala1252=) rs1585354389
NM_014141.6(CNTNAP2):c.3762A>G (p.Arg1254=)
NM_014141.6(CNTNAP2):c.3783G>T (p.Ser1261=) rs778395783
NM_014141.6(CNTNAP2):c.3796+13T>C
NM_014141.6(CNTNAP2):c.3797-5G>C rs745770134
NM_014141.6(CNTNAP2):c.3804T>A (p.Ile1268=)
NM_014141.6(CNTNAP2):c.3828G>A (p.Leu1276=)
NM_014141.6(CNTNAP2):c.3831C>T (p.Cys1277=)
NM_014141.6(CNTNAP2):c.3888C>T (p.Asn1296=) rs1460281368
NM_014141.6(CNTNAP2):c.3921G>A (p.Ala1307=) rs750224036
NM_014141.6(CNTNAP2):c.3921G>T (p.Ala1307=) rs750224036
NM_014141.6(CNTNAP2):c.393G>A (p.Gly131=)
NM_014141.6(CNTNAP2):c.393G>T (p.Gly131=) rs768229823
NM_014141.6(CNTNAP2):c.3957A>G (p.Thr1319=) rs1585362825
NM_014141.6(CNTNAP2):c.3981G>A (p.Lys1327=)
NM_014141.6(CNTNAP2):c.3990C>G (p.Leu1330=) rs1057522590
NM_014141.6(CNTNAP2):c.3992_3996dup (p.Ile1331_Ter1332=)
NM_014141.6(CNTNAP2):c.3995G>A (p.Ter1332=)
NM_014141.6(CNTNAP2):c.402+9T>C
NM_014141.6(CNTNAP2):c.403-10C>A rs1451473871
NM_014141.6(CNTNAP2):c.403-14A>G
NM_014141.6(CNTNAP2):c.403-17_403-14del
NM_014141.6(CNTNAP2):c.435G>A (p.Val145=) rs2129255306
NM_014141.6(CNTNAP2):c.435G>T (p.Val145=) rs2129255306
NM_014141.6(CNTNAP2):c.438C>G (p.Val146=) rs1799305932
NM_014141.6(CNTNAP2):c.438C>T (p.Val146=)
NM_014141.6(CNTNAP2):c.459G>T (p.Pro153=) rs1799306507
NM_014141.6(CNTNAP2):c.477G>A (p.Val159=) rs759357451
NM_014141.6(CNTNAP2):c.489T>C (p.Pro163=)
NM_014141.6(CNTNAP2):c.516T>C (p.Ile172=) rs1472890047
NM_014141.6(CNTNAP2):c.550+10G>A rs776175685
NM_014141.6(CNTNAP2):c.550+10G>T rs776175685
NM_014141.6(CNTNAP2):c.550+13T>C rs2129255404
NM_014141.6(CNTNAP2):c.550+14T>A
NM_014141.6(CNTNAP2):c.550+16_550+17insGGCAGGTTTTATCTTTTTTTAAATTTT
NM_014141.6(CNTNAP2):c.550+9C>T rs2129255402
NM_014141.6(CNTNAP2):c.551-10_551-9insGT rs1554439036
NM_014141.6(CNTNAP2):c.551-12_551-11insG
NM_014141.6(CNTNAP2):c.551-17T>A
NM_014141.6(CNTNAP2):c.551-7G>C
NM_014141.6(CNTNAP2):c.551-7G>T rs768621629
NM_014141.6(CNTNAP2):c.551-8T>C
NM_014141.6(CNTNAP2):c.551-9T>C rs1335056250
NM_014141.6(CNTNAP2):c.576C>T (p.Gly192=)
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=) rs752019151
NM_014141.6(CNTNAP2):c.630T>C (p.Asp210=) rs779797746
NM_014141.6(CNTNAP2):c.633C>T (p.Val211=) rs140505542
NM_014141.6(CNTNAP2):c.651G>A (p.Lys217=) rs2129279549
NM_014141.6(CNTNAP2):c.711C>T (p.Thr237=) rs2129279579
NM_014141.6(CNTNAP2):c.723A>G (p.Lys241=)
NM_014141.6(CNTNAP2):c.738C>T (p.Val246=) rs1584848415
NM_014141.6(CNTNAP2):c.750C>T (p.Asn250=)
NM_014141.6(CNTNAP2):c.754+11_754+14del
NM_014141.6(CNTNAP2):c.755-11T>C
NM_014141.6(CNTNAP2):c.755-16A>G
NM_014141.6(CNTNAP2):c.755-8G>A rs1563083756
NM_014141.6(CNTNAP2):c.771C>T (p.Gly257=) rs1343149610
NM_014141.6(CNTNAP2):c.801A>G (p.Thr267=) rs924165797
NM_014141.6(CNTNAP2):c.813G>A (p.Leu271=) rs1057522233
NM_014141.6(CNTNAP2):c.831C>T (p.His277=)
NM_014141.6(CNTNAP2):c.858G>A (p.Arg286=)
NM_014141.6(CNTNAP2):c.882G>A (p.Arg294=)
NM_014141.6(CNTNAP2):c.891G>A (p.Gln297=)
NM_014141.6(CNTNAP2):c.906T>C (p.Asn302=) rs2129282739
NM_014141.6(CNTNAP2):c.90C>T (p.Ser30=)
NM_014141.6(CNTNAP2):c.912G>A (p.Glu304=) rs372998403
NM_014141.6(CNTNAP2):c.939+19A>G
NM_014141.6(CNTNAP2):c.939+9G>A
NM_014141.6(CNTNAP2):c.939+9G>C rs942290509
NM_014141.6(CNTNAP2):c.940-13C>A rs774172418
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=) rs794727872
NM_014141.6(CNTNAP2):c.966T>C (p.Ser322=) rs954835249
NM_014141.6(CNTNAP2):c.97+19G>A
NM_014141.6(CNTNAP2):c.98-20T>A
NM_014141.6(CNTNAP2):c.98-21CT[2]
NM_014141.6(CNTNAP2):c.9G>T (p.Ala3=)

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