ClinVar Miner

List of variants reported as uncertain significance for cortical dysplasia-focal epilepsy syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 667
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) rs137924687 0.00059
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_014141.6(CNTNAP2):c.1858G>A (p.Gly620Arg) rs142980731 0.00041
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659 0.00029
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086 0.00021
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983 0.00019
NM_014141.6(CNTNAP2):c.2288A>G (p.Asp763Gly) rs201483304 0.00019
NM_014141.6(CNTNAP2):c.3010+5G>A rs373422045 0.00019
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771 0.00017
NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp) rs375172684 0.00016
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712 0.00016
NM_014141.6(CNTNAP2):c.3154C>T (p.Arg1052Cys) rs139930720 0.00016
NM_014141.6(CNTNAP2):c.1943C>T (p.Thr648Met) rs534215627 0.00012
NM_014141.6(CNTNAP2):c.3920C>T (p.Ala1307Val) rs149487593 0.00011
NM_014141.6(CNTNAP2):c.632T>C (p.Val211Ala) rs367652115 0.00011
NM_014141.6(CNTNAP2):c.2038G>A (p.Glu680Lys) rs368905425 0.00010
NM_014141.6(CNTNAP2):c.2380G>A (p.Asp794Asn) rs887609185 0.00010
NM_014141.6(CNTNAP2):c.440G>A (p.Arg147Gln) rs1064794785 0.00010
NM_014141.6(CNTNAP2):c.65T>C (p.Leu22Pro) rs768374052 0.00010
NM_014141.6(CNTNAP2):c.143T>C (p.Phe48Ser) rs551931845 0.00009
NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln) rs764412489 0.00009
NM_014141.6(CNTNAP2):c.2716C>T (p.Arg906Cys) rs141617212 0.00009
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970 0.00009
NM_014141.6(CNTNAP2):c.1954G>A (p.Gly652Ser) rs144623130 0.00008
NM_014141.6(CNTNAP2):c.282G>T (p.Gln94His) rs142185444 0.00008
NM_014141.6(CNTNAP2):c.3151A>G (p.Ile1051Val) rs373566502 0.00008
NM_014141.6(CNTNAP2):c.14C>T (p.Pro5Leu) rs779710846 0.00007
NM_014141.6(CNTNAP2):c.1504C>G (p.Leu502Val) rs368470905 0.00007
NM_014141.6(CNTNAP2):c.3304G>A (p.Val1102Ile) rs773399465 0.00007
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883 0.00007
NM_014141.6(CNTNAP2):c.1033G>A (p.Val345Ile) rs145832489 0.00006
NM_014141.6(CNTNAP2):c.181G>A (p.Gly61Ser) rs376929846 0.00006
NM_014141.6(CNTNAP2):c.1990G>A (p.Val664Ile) rs201934244 0.00006
NM_014141.6(CNTNAP2):c.2368C>T (p.Arg790Cys) rs200089329 0.00006
NM_014141.6(CNTNAP2):c.2449G>A (p.Gly817Arg) rs140239461 0.00006
NM_014141.6(CNTNAP2):c.2717G>A (p.Arg906His) rs759801195 0.00006
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410 0.00006
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596 0.00006
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952 0.00006
NM_014141.6(CNTNAP2):c.3595G>A (p.Ala1199Thr) rs727503878 0.00006
NM_014141.6(CNTNAP2):c.3925G>A (p.Ala1309Thr) rs530757880 0.00006
NM_014141.6(CNTNAP2):c.3969T>G (p.Asp1323Glu) rs147968599 0.00006
NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile) rs781338949 0.00006
NM_014141.6(CNTNAP2):c.965C>T (p.Ser322Phe) rs139042086 0.00006
NM_014141.6(CNTNAP2):c.1634C>T (p.Ala545Val) rs771772546 0.00005
NM_014141.6(CNTNAP2):c.2186C>T (p.Ala729Val) rs758221358 0.00005
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671 0.00005
NM_014141.6(CNTNAP2):c.238G>A (p.Asp80Asn) rs370057104 0.00005
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val) rs756994633 0.00005
NM_014141.6(CNTNAP2):c.857G>A (p.Arg286Gln) rs375721700 0.00005
NM_014141.6(CNTNAP2):c.899G>A (p.Arg300His) rs748407252 0.00005
NM_014141.6(CNTNAP2):c.1051G>A (p.Ala351Thr) rs201253086 0.00004
NM_014141.6(CNTNAP2):c.1385G>A (p.Arg462His) rs774717843 0.00004
NM_014141.6(CNTNAP2):c.1636A>G (p.Asn546Asp) rs142149051 0.00004
NM_014141.6(CNTNAP2):c.200A>G (p.Lys67Arg) rs755518759 0.00004
NM_014141.6(CNTNAP2):c.2256G>C (p.Trp752Cys) rs147532036 0.00004
NM_014141.6(CNTNAP2):c.2555-3C>T rs369046214 0.00004
NM_014141.6(CNTNAP2):c.274C>T (p.Arg92Trp) rs747286104 0.00004
NM_014141.6(CNTNAP2):c.275G>A (p.Arg92Gln) rs138924087 0.00004
NM_014141.6(CNTNAP2):c.2837C>A (p.Thr946Lys) rs758287508 0.00004
NM_014141.6(CNTNAP2):c.3010+6G>A rs376708056 0.00004
NM_014141.6(CNTNAP2):c.3226G>A (p.Ala1076Thr) rs1270594834 0.00004
NM_014141.6(CNTNAP2):c.355G>A (p.Asp119Asn) rs777035367 0.00004
NM_014141.6(CNTNAP2):c.3607G>A (p.Val1203Ile) rs745397865 0.00004
NM_014141.6(CNTNAP2):c.3811G>T (p.Val1271Leu) rs773493508 0.00004
NM_014141.6(CNTNAP2):c.511C>T (p.Arg171Cys) rs375032955 0.00004
NM_014141.6(CNTNAP2):c.707T>G (p.Ile236Ser) rs749945304 0.00004
NM_014141.6(CNTNAP2):c.102A>C (p.Lys34Asn) rs779436784 0.00003
NM_014141.6(CNTNAP2):c.1039A>G (p.Ile347Val) rs768298723 0.00003
NM_014141.6(CNTNAP2):c.1078A>G (p.Asn360Asp) rs570190374 0.00003
NM_014141.6(CNTNAP2):c.1079A>G (p.Asn360Ser) rs794727873 0.00003
NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu) rs368057493 0.00003
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978 0.00003
NM_014141.6(CNTNAP2):c.1337A>G (p.Asp446Gly) rs753860243 0.00003
NM_014141.6(CNTNAP2):c.1435G>A (p.Ala479Thr) rs759244842 0.00003
NM_014141.6(CNTNAP2):c.1896A>C (p.Thr632=) rs749646225 0.00003
NM_014141.6(CNTNAP2):c.194T>A (p.Ile65Lys) rs1245424156 0.00003
NM_014141.6(CNTNAP2):c.2137G>A (p.Glu713Lys) rs201178948 0.00003
NM_014141.6(CNTNAP2):c.2240C>T (p.Ala747Val) rs200214541 0.00003
NM_014141.6(CNTNAP2):c.2855G>A (p.Arg952Lys) rs777688879 0.00003
NM_014141.6(CNTNAP2):c.2891C>T (p.Ser964Leu) rs768784351 0.00003
NM_014141.6(CNTNAP2):c.3010+3A>G rs370484431 0.00003
NM_014141.6(CNTNAP2):c.340C>T (p.Arg114Trp) rs756180841 0.00003
NM_014141.6(CNTNAP2):c.3427G>A (p.Asp1143Asn) rs765950760 0.00003
NM_014141.6(CNTNAP2):c.3562G>A (p.Ala1188Thr) rs571404876 0.00003
NM_014141.6(CNTNAP2):c.3653C>T (p.Pro1218Leu) rs758768018 0.00003
NM_014141.6(CNTNAP2):c.3661C>G (p.Leu1221Val) rs765217559 0.00003
NM_014141.6(CNTNAP2):c.3798C>T (p.Gly1266=) rs1483110052 0.00003
NM_014141.6(CNTNAP2):c.3833C>T (p.Thr1278Ile) rs760047247 0.00003
NM_014141.6(CNTNAP2):c.3857T>C (p.Met1286Thr) rs150167891 0.00003
NM_014141.6(CNTNAP2):c.3950A>G (p.Asn1317Ser) rs148611916 0.00003
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser) rs370517200 0.00003
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320 0.00003
NM_014141.6(CNTNAP2):c.62G>A (p.Cys21Tyr) rs1341597305 0.00003
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438 0.00003
NM_014141.6(CNTNAP2):c.901A>G (p.Thr301Ala) rs772320412 0.00003
NM_014141.6(CNTNAP2):c.963C>A (p.Phe321Leu) rs765211652 0.00003
NM_014141.6(CNTNAP2):c.1118C>T (p.Thr373Met) rs149576292 0.00002
NM_014141.6(CNTNAP2):c.1123C>T (p.Pro375Ser) rs757993314 0.00002
NM_014141.6(CNTNAP2):c.115C>T (p.Leu39Phe) rs747896321 0.00002
NM_014141.6(CNTNAP2):c.1280C>G (p.Thr427Ser) rs776123229 0.00002
NM_014141.6(CNTNAP2):c.1384C>T (p.Arg462Cys) rs769071764 0.00002
NM_014141.6(CNTNAP2):c.1390C>G (p.Leu464Val) rs1210288150 0.00002
NM_014141.6(CNTNAP2):c.1485G>T (p.Lys495Asn) rs374414558 0.00002
NM_014141.6(CNTNAP2):c.1552C>G (p.Gln518Glu) rs781568509 0.00002
NM_014141.6(CNTNAP2):c.1582G>A (p.Asp528Asn) rs761732433 0.00002
NM_014141.6(CNTNAP2):c.1597T>A (p.Leu533Ile) rs781114080 0.00002
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298 0.00002
NM_014141.6(CNTNAP2):c.1622C>T (p.Pro541Leu) rs779761487 0.00002
NM_014141.6(CNTNAP2):c.1653G>C (p.Met551Ile) rs762231600 0.00002
NM_014141.6(CNTNAP2):c.1997G>A (p.Ser666Asn) rs200098672 0.00002
NM_014141.6(CNTNAP2):c.1999G>A (p.Ala667Thr) rs374920791 0.00002
NM_014141.6(CNTNAP2):c.2122G>T (p.Val708Phe) rs763122160 0.00002
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032 0.00002
NM_014141.6(CNTNAP2):c.2231A>G (p.Asn744Ser) rs768053245 0.00002
NM_014141.6(CNTNAP2):c.2315T>C (p.Val772Ala) rs370466945 0.00002
NM_014141.6(CNTNAP2):c.2330G>A (p.Arg777His) rs752756517 0.00002
NM_014141.6(CNTNAP2):c.2360G>C (p.Gly787Ala) rs929192800 0.00002
NM_014141.6(CNTNAP2):c.2461G>A (p.Ala821Thr) rs375617946 0.00002
NM_014141.6(CNTNAP2):c.2599G>A (p.Val867Ile) rs565362022 0.00002
NM_014141.6(CNTNAP2):c.2617T>A (p.Ser873Thr) rs776896133 0.00002
NM_014141.6(CNTNAP2):c.2698C>T (p.Arg900Trp) rs375318010 0.00002
NM_014141.6(CNTNAP2):c.2699G>A (p.Arg900Gln) rs374321266 0.00002
NM_014141.6(CNTNAP2):c.3005A>T (p.Asn1002Ile) rs1227937536 0.00002
NM_014141.6(CNTNAP2):c.3109C>T (p.Pro1037Ser) rs541853843 0.00002
NM_014141.6(CNTNAP2):c.3140C>A (p.Ala1047Glu) rs760640326 0.00002
NM_014141.6(CNTNAP2):c.3167G>C (p.Ser1056Thr) rs776326011 0.00002
NM_014141.6(CNTNAP2):c.3296A>G (p.Asn1099Ser) rs748173228 0.00002
NM_014141.6(CNTNAP2):c.3344T>C (p.Val1115Ala) rs757813902 0.00002
NM_014141.6(CNTNAP2):c.338A>G (p.Tyr113Cys) rs779208613 0.00002
NM_014141.6(CNTNAP2):c.3395C>G (p.Pro1132Arg) rs769942778 0.00002
NM_014141.6(CNTNAP2):c.3431C>G (p.Thr1144Ser) rs775781258 0.00002
NM_014141.6(CNTNAP2):c.3493C>G (p.Gln1165Glu) rs1045386195 0.00002
NM_014141.6(CNTNAP2):c.3517C>A (p.Pro1173Thr) rs772569737 0.00002
NM_014141.6(CNTNAP2):c.3689C>T (p.Pro1230Leu) rs759652826 0.00002
NM_014141.6(CNTNAP2):c.3791T>C (p.Ile1264Thr) rs376316135 0.00002
NM_014141.6(CNTNAP2):c.449T>C (p.Leu150Ser) rs199851989 0.00002
NM_014141.6(CNTNAP2):c.464T>C (p.Ile155Thr) rs778256879 0.00002
NM_014141.6(CNTNAP2):c.634A>G (p.Ile212Val) rs751076079 0.00002
NM_014141.6(CNTNAP2):c.794T>G (p.Val265Gly) rs1484355748 0.00002
NM_014141.6(CNTNAP2):c.847C>T (p.Arg283Cys) rs794727802 0.00002
NM_014141.6(CNTNAP2):c.848G>A (p.Arg283His) rs764747425 0.00002
NM_014141.6(CNTNAP2):c.862A>G (p.Ile288Val) rs757316182 0.00002
NM_014141.6(CNTNAP2):c.1007G>T (p.Cys336Phe) rs1229878290 0.00001
NM_014141.6(CNTNAP2):c.1030G>A (p.Gly344Ser) rs367878797 0.00001
NM_014141.6(CNTNAP2):c.1037A>G (p.Asn346Ser) rs748787013 0.00001
NM_014141.6(CNTNAP2):c.1045G>A (p.Asp349Asn) rs774084392 0.00001
NM_014141.6(CNTNAP2):c.1073C>T (p.Pro358Leu) rs760416207 0.00001
NM_014141.6(CNTNAP2):c.1138G>A (p.Ala380Thr) rs751589771 0.00001
NM_014141.6(CNTNAP2):c.1141A>G (p.Thr381Ala) rs1297941346 0.00001
NM_014141.6(CNTNAP2):c.1147T>C (p.Tyr383His) rs1343953862 0.00001
NM_014141.6(CNTNAP2):c.1162G>A (p.Gly388Arg) rs775430816 0.00001
NM_014141.6(CNTNAP2):c.1207A>G (p.Thr403Ala) rs1159171537 0.00001
NM_014141.6(CNTNAP2):c.122C>T (p.Ser41Phe) rs1563225193 0.00001
NM_014141.6(CNTNAP2):c.1252A>G (p.Asn418Asp) rs772179690 0.00001
NM_014141.6(CNTNAP2):c.1276C>A (p.Leu426Ile) rs187441681 0.00001
NM_014141.6(CNTNAP2):c.1295G>T (p.Gly432Val) rs750991896 0.00001
NM_014141.6(CNTNAP2):c.1300C>T (p.His434Tyr) rs1186551916 0.00001
NM_014141.6(CNTNAP2):c.1336G>A (p.Asp446Asn) rs956320440 0.00001
NM_014141.6(CNTNAP2):c.1340T>A (p.Ile447Asn) rs144970713 0.00001
NM_014141.6(CNTNAP2):c.1370A>G (p.Gln457Arg) rs1794916852 0.00001
NM_014141.6(CNTNAP2):c.1402A>T (p.Asn468Tyr) rs1358247051 0.00001
NM_014141.6(CNTNAP2):c.1406T>C (p.Phe469Ser) rs568653133 0.00001
NM_014141.6(CNTNAP2):c.1420A>G (p.Ile474Val) rs765970596 0.00001
NM_014141.6(CNTNAP2):c.1441G>A (p.Ala481Thr) rs1329353667 0.00001
NM_014141.6(CNTNAP2):c.1448G>A (p.Arg483Gln) rs777884519 0.00001
NM_014141.6(CNTNAP2):c.1526G>A (p.Ser509Asn) rs794726999 0.00001
NM_014141.6(CNTNAP2):c.158C>G (p.Ser53Cys) rs762223005 0.00001
NM_014141.6(CNTNAP2):c.1620G>C (p.Lys540Asn) rs750957376 0.00001
NM_014141.6(CNTNAP2):c.1625G>A (p.Gly542Glu) rs372532510 0.00001
NM_014141.6(CNTNAP2):c.1633G>A (p.Ala545Thr) rs747922335 0.00001
NM_014141.6(CNTNAP2):c.1642A>T (p.Ser548Cys) rs140699088 0.00001
NM_014141.6(CNTNAP2):c.1678C>T (p.Pro560Ser) rs1430514202 0.00001
NM_014141.6(CNTNAP2):c.1723A>T (p.Ser575Cys) rs794727033 0.00001
NM_014141.6(CNTNAP2):c.1766C>A (p.Thr589Asn) rs756006548 0.00001
NM_014141.6(CNTNAP2):c.1880T>C (p.Val627Ala) rs138313942 0.00001
NM_014141.6(CNTNAP2):c.1882T>C (p.Tyr628His) rs770030792 0.00001
NM_014141.6(CNTNAP2):c.1883A>G (p.Tyr628Cys) rs1169812593 0.00001
NM_014141.6(CNTNAP2):c.1897+5C>T rs1371478454 0.00001
NM_014141.6(CNTNAP2):c.1916T>C (p.Ile639Thr) rs369349402 0.00001
NM_014141.6(CNTNAP2):c.1961A>G (p.Asn654Ser) rs1474278215 0.00001
NM_014141.6(CNTNAP2):c.1963C>T (p.Pro655Ser) rs1209135900 0.00001
NM_014141.6(CNTNAP2):c.1984C>G (p.Gln662Glu) rs760806261 0.00001
NM_014141.6(CNTNAP2):c.2098+5G>A rs994335919 0.00001
NM_014141.6(CNTNAP2):c.2126G>A (p.Gly709Asp) rs774529648 0.00001
NM_014141.6(CNTNAP2):c.2191G>A (p.Gly731Ser) rs369867547 0.00001
NM_014141.6(CNTNAP2):c.2197G>A (p.Glu733Lys) rs991842796 0.00001
NM_014141.6(CNTNAP2):c.2201G>A (p.Arg734His) rs1060503570 0.00001
NM_014141.6(CNTNAP2):c.2221T>C (p.Tyr741His) rs762079391 0.00001
NM_014141.6(CNTNAP2):c.2243A>G (p.Asp748Gly) rs964887613 0.00001
NM_014141.6(CNTNAP2):c.226C>T (p.Pro76Ser) rs149632465 0.00001
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn) rs201446615 0.00001
NM_014141.6(CNTNAP2):c.2320G>T (p.Asp774Tyr) rs779885390 0.00001
NM_014141.6(CNTNAP2):c.2348A>G (p.Lys783Arg) rs1198403790 0.00001
NM_014141.6(CNTNAP2):c.2354G>A (p.Ser785Asn) rs1275452667 0.00001
NM_014141.6(CNTNAP2):c.2383A>G (p.Arg795Gly) rs1327708224 0.00001
NM_014141.6(CNTNAP2):c.2516A>G (p.Asn839Ser) rs796052377 0.00001
NM_014141.6(CNTNAP2):c.2632A>G (p.Asn878Asp) rs375538831 0.00001
NM_014141.6(CNTNAP2):c.2635G>A (p.Asp879Asn) rs201187461 0.00001
NM_014141.6(CNTNAP2):c.2638G>A (p.Asp880Asn) rs369872780 0.00001
NM_014141.6(CNTNAP2):c.2650C>T (p.Arg884Trp) rs373383452 0.00001
NM_014141.6(CNTNAP2):c.2689C>A (p.Gln897Lys) rs200300251 0.00001
NM_014141.6(CNTNAP2):c.2723C>T (p.Ala908Val) rs914981325 0.00001
NM_014141.6(CNTNAP2):c.2752C>T (p.Leu918Phe) rs865872013 0.00001
NM_014141.6(CNTNAP2):c.2793G>C (p.Gln931His) rs768170033 0.00001
NM_014141.6(CNTNAP2):c.2813G>A (p.Arg938His) rs1048353998 0.00001
NM_014141.6(CNTNAP2):c.2903C>T (p.Thr968Ile) rs1255422619 0.00001
NM_014141.6(CNTNAP2):c.293T>C (p.Ile98Thr) rs146331571 0.00001
NM_014141.6(CNTNAP2):c.2956G>A (p.Gly986Ser) rs751542883 0.00001
NM_014141.6(CNTNAP2):c.2968G>A (p.Asp990Asn) rs1060503572 0.00001
NM_014141.6(CNTNAP2):c.299C>T (p.Thr100Ile) rs762630475 0.00001
NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn) rs748508785 0.00001
NM_014141.6(CNTNAP2):c.3011-3C>T rs747361414 0.00001
NM_014141.6(CNTNAP2):c.3039G>A (p.Met1013Ile) rs745718727 0.00001
NM_014141.6(CNTNAP2):c.3047G>A (p.Arg1016Gln) rs143879959 0.00001
NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr) rs545175315 0.00001
NM_014141.6(CNTNAP2):c.3115C>G (p.Gln1039Glu) rs372351365 0.00001
NM_014141.6(CNTNAP2):c.3131C>T (p.Pro1044Leu) rs369724886 0.00001
NM_014141.6(CNTNAP2):c.3281C>T (p.Thr1094Ile) rs781096937 0.00001
NM_014141.6(CNTNAP2):c.3284G>A (p.Arg1095Gln) rs535562015 0.00001
NM_014141.6(CNTNAP2):c.3289C>T (p.Pro1097Ser) rs200823464 0.00001
NM_014141.6(CNTNAP2):c.3323C>T (p.Ala1108Val) rs1359189375 0.00001
NM_014141.6(CNTNAP2):c.3356G>A (p.Arg1119His) rs774709566 0.00001
NM_014141.6(CNTNAP2):c.3361G>A (p.Glu1121Lys) rs572154707 0.00001
NM_014141.6(CNTNAP2):c.3379A>G (p.Lys1127Glu) rs1032665509 0.00001
NM_014141.6(CNTNAP2):c.343A>C (p.Met115Leu) rs758526505 0.00001
NM_014141.6(CNTNAP2):c.3473T>A (p.Ile1158Lys) rs1064794544 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
NM_014141.6(CNTNAP2):c.3598T>A (p.Ser1200Thr) rs758752276 0.00001
NM_014141.6(CNTNAP2):c.3622G>A (p.Glu1208Lys) rs1325468046 0.00001
NM_014141.6(CNTNAP2):c.3643G>A (p.Gly1215Arg) rs1212113314 0.00001
NM_014141.6(CNTNAP2):c.3665C>T (p.Ser1222Phe) rs781709263 0.00001
NM_014141.6(CNTNAP2):c.3736A>T (p.Asn1246Tyr) rs1314045416 0.00001
NM_014141.6(CNTNAP2):c.37C>T (p.Leu13Phe) rs796052375 0.00001
NM_014141.6(CNTNAP2):c.3845T>C (p.Leu1282Pro) rs752194710 0.00001
NM_014141.6(CNTNAP2):c.3851G>A (p.Arg1284Gln) rs751307599 0.00001
NM_014141.6(CNTNAP2):c.3870G>A (p.Lys1290=) rs1275064794 0.00001
NM_014141.6(CNTNAP2):c.3889G>A (p.Glu1297Lys) rs777946931 0.00001
NM_014141.6(CNTNAP2):c.3902C>T (p.Ala1301Val) rs776987592 0.00001
NM_014141.6(CNTNAP2):c.3919G>A (p.Ala1307Thr) rs139234992 0.00001
NM_014141.6(CNTNAP2):c.3941A>G (p.Asn1314Ser) rs747060975 0.00001
NM_014141.6(CNTNAP2):c.3952T>G (p.Phe1318Val) rs1468031997 0.00001
NM_014141.6(CNTNAP2):c.3965T>C (p.Ile1322Thr) rs770332632 0.00001
NM_014141.6(CNTNAP2):c.398T>C (p.Ile133Thr) rs935362211 0.00001
NM_014141.6(CNTNAP2):c.407T>C (p.Phe136Ser) rs1181723552 0.00001
NM_014141.6(CNTNAP2):c.412G>A (p.Gly138Arg) rs1241987279 0.00001
NM_014141.6(CNTNAP2):c.41T>C (p.Leu14Pro) rs1283986677 0.00001
NM_014141.6(CNTNAP2):c.545C>G (p.Ser182Cys) rs1799308531 0.00001
NM_014141.6(CNTNAP2):c.566A>C (p.Asn189Thr) rs1033655505 0.00001
NM_014141.6(CNTNAP2):c.664G>C (p.Glu222Gln) rs532524611 0.00001
NM_014141.6(CNTNAP2):c.671T>C (p.Val224Ala) rs1269648909 0.00001
NM_014141.6(CNTNAP2):c.700G>T (p.Asp234Tyr) rs867768148 0.00001
NM_014141.6(CNTNAP2):c.736G>A (p.Val246Ile) rs933650648 0.00001
NM_014141.6(CNTNAP2):c.754+5G>A rs1800809272 0.00001
NM_014141.6(CNTNAP2):c.755-3C>T rs780336361 0.00001
NM_014141.6(CNTNAP2):c.766C>T (p.Leu256Phe) rs774670250 0.00001
NM_014141.6(CNTNAP2):c.788C>T (p.Thr263Ile) rs200933217 0.00001
NM_014141.6(CNTNAP2):c.806G>A (p.Ser269Asn) rs1057518565 0.00001
NM_014141.6(CNTNAP2):c.815A>G (p.Asp272Gly) rs772500302 0.00001
NM_014141.6(CNTNAP2):c.856C>T (p.Arg286Trp) rs764014323 0.00001
NM_014141.6(CNTNAP2):c.860G>A (p.Ser287Asn) rs140716136 0.00001
NM_014141.6(CNTNAP2):c.868C>T (p.Leu290Phe) rs1801102385 0.00001
NM_014141.6(CNTNAP2):c.876G>A (p.Leu292=) rs1584856729 0.00001
NM_014141.6(CNTNAP2):c.898C>T (p.Arg300Cys) rs577870607 0.00001
NM_014141.6(CNTNAP2):c.92C>G (p.Thr31Arg) rs1387747328 0.00001
NM_014141.6(CNTNAP2):c.935A>G (p.Tyr312Cys) rs1361533128 0.00001
NM_014141.6(CNTNAP2):c.967G>A (p.Gly323Ser) rs1471454408 0.00001
NM_014141.6(CNTNAP2):c.993G>T (p.Lys331Asn) rs1064793484 0.00001
NC_000007.13:g.(?_145813093)_(146537016_?)dup
NC_000007.13:g.(?_145813093)_(147092892_?)dup
NC_000007.13:g.(?_145813093)_(148544390_?)dup
NC_000007.13:g.(?_145813969)_(148544390_?)dup
NC_000007.13:g.(?_146471343)_(146829621_?)del
NC_000007.13:g.(?_146471343)_(146829621_?)dup
NC_000007.13:g.(?_146805219)_(146805462_?)dup
NC_000007.13:g.(?_146805219)_(146829621_?)dup
NC_000007.13:g.(?_147259210)_(147259369_?)dup
NC_000007.13:g.(?_147259210)_(147336418_?)dup
NC_000007.13:g.(?_147336178)_(147336418_?)dup
NC_000007.13:g.(?_147336188)_(147336408_?)dup
NC_000007.13:g.(?_147600637)_(147844821_?)dup
NC_000007.13:g.(?_148080721)_(148081000_?)del
NC_000007.13:g.(?_148106463)_(148112708_?)dup
NC_000007.14:g.(?_146116001)_(146116993_?)dup
NC_000007.14:g.(?_146116001)_(148847318_?)dup
NC_000007.14:g.(?_146774271)_(146774381_?)del
NC_000007.14:g.(?_148409371)_(148409491_?)del
NM_014141.6(CNTNAP2):c.1016G>A (p.Ser339Asn)
NM_014141.6(CNTNAP2):c.1031G>A (p.Gly344Asp) rs1277235702
NM_014141.6(CNTNAP2):c.1031G>T (p.Gly344Val) rs1277235702
NM_014141.6(CNTNAP2):c.103T>C (p.Cys35Arg) rs753486205
NM_014141.6(CNTNAP2):c.1040T>A (p.Ile347Asn)
NM_014141.6(CNTNAP2):c.1043C>A (p.Thr348Asn)
NM_014141.6(CNTNAP2):c.1047T>A (p.Asp349Glu)
NM_014141.6(CNTNAP2):c.1072C>T (p.Pro358Ser) rs2129284424
NM_014141.6(CNTNAP2):c.1084-3C>T
NM_014141.6(CNTNAP2):c.1084G>A (p.Gly362Arg)
NM_014141.6(CNTNAP2):c.1100C>T (p.Ser367Phe) rs935590800
NM_014141.6(CNTNAP2):c.1103G>A (p.Cys368Tyr)
NM_014141.6(CNTNAP2):c.1105G>A (p.Val369Met) rs368057493
NM_014141.6(CNTNAP2):c.1115A>G (p.Tyr372Cys)
NM_014141.6(CNTNAP2):c.1123C>G (p.Pro375Ala)
NM_014141.6(CNTNAP2):c.1126G>A (p.Val376Ile) rs1801390957
NM_014141.6(CNTNAP2):c.112C>T (p.Pro38Ser) rs2129185957
NM_014141.6(CNTNAP2):c.1157T>C (p.Val386Ala) rs2129285278
NM_014141.6(CNTNAP2):c.1175A>T (p.Gln392Leu) rs1554441866
NM_014141.6(CNTNAP2):c.1179C>A (p.Asp393Glu) rs1801392415
NM_014141.6(CNTNAP2):c.1214A>T (p.Asn405Ile)
NM_014141.6(CNTNAP2):c.1222G>A (p.Gly408Ser) rs751202112
NM_014141.6(CNTNAP2):c.1223G>A (p.Gly408Asp)
NM_014141.6(CNTNAP2):c.1238G>A (p.Ser413Asn) rs796052371
NM_014141.6(CNTNAP2):c.1259G>A (p.Gly420Asp) rs200673864
NM_014141.6(CNTNAP2):c.128T>G (p.Leu43Arg)
NM_014141.6(CNTNAP2):c.1325T>G (p.Met442Arg) rs755900240
NM_014141.6(CNTNAP2):c.1328G>A (p.Ser443Asn) rs1064794457
NM_014141.6(CNTNAP2):c.1337A>C (p.Asp446Ala) rs753860243
NM_014141.6(CNTNAP2):c.133C>A (p.His45Asn)
NM_014141.6(CNTNAP2):c.1347A>C (p.Ser449=) rs1554441906
NM_014141.6(CNTNAP2):c.1347A>G (p.Ser449=) rs1554441906
NM_014141.6(CNTNAP2):c.1348+5G>C
NM_014141.6(CNTNAP2):c.1359G>C (p.Leu453Phe) rs781466709
NM_014141.6(CNTNAP2):c.1366G>A (p.Gly456Arg) rs1794916733
NM_014141.6(CNTNAP2):c.1377C>A (p.His459Gln) rs377678020
NM_014141.6(CNTNAP2):c.1381G>A (p.Val461Ile)
NM_014141.6(CNTNAP2):c.13C>A (p.Pro5Thr) rs1797490961
NM_014141.6(CNTNAP2):c.13C>T (p.Pro5Ser) rs1797490961
NM_014141.6(CNTNAP2):c.1403A>G (p.Asn468Ser)
NM_014141.6(CNTNAP2):c.140C>T (p.Ala47Val) rs916375383
NM_014141.6(CNTNAP2):c.1411A>T (p.Ile471Phe)
NM_014141.6(CNTNAP2):c.1413T>G (p.Ile471Met) rs376233595
NM_014141.6(CNTNAP2):c.1423G>A (p.Asp475Asn) rs1584856361
NM_014141.6(CNTNAP2):c.1430A>G (p.Asp477Gly) rs1794918008
NM_014141.6(CNTNAP2):c.1430A>T (p.Asp477Val) rs1794918008
NM_014141.6(CNTNAP2):c.1458T>A (p.Ser486Arg) rs756274887
NM_014141.6(CNTNAP2):c.1460C>G (p.Pro487Arg) rs2116769474
NM_014141.6(CNTNAP2):c.1462C>T (p.Leu488Phe)
NM_014141.6(CNTNAP2):c.1469T>A (p.Val490Asp) rs979608770
NM_014141.6(CNTNAP2):c.1469T>C (p.Val490Ala) rs979608770
NM_014141.6(CNTNAP2):c.1475C>T (p.Thr492Ile) rs1794918917
NM_014141.6(CNTNAP2):c.1489T>A (p.Phe497Ile) rs760122387
NM_014141.6(CNTNAP2):c.1495G>A (p.Gly499Arg) rs1794919805
NM_014141.6(CNTNAP2):c.1515G>A (p.Met505Ile) rs372161542
NM_014141.6(CNTNAP2):c.1515G>C (p.Met505Ile)
NM_014141.6(CNTNAP2):c.151_152delinsAG (p.Ser51=)
NM_014141.6(CNTNAP2):c.1523C>T (p.Ser508Leu) rs1796800102
NM_014141.6(CNTNAP2):c.1531T>A (p.Ser511Thr) rs1554479252
NM_014141.6(CNTNAP2):c.1543C>A (p.Pro515Thr) rs1064794493
NM_014141.6(CNTNAP2):c.1544C>T (p.Pro515Leu) rs1459889150
NM_014141.6(CNTNAP2):c.1566G>C (p.Gln522His) rs535454043
NM_014141.6(CNTNAP2):c.1583A>G (p.Asp528Gly)
NM_014141.6(CNTNAP2):c.1596T>G (p.Asn532Lys)
NM_014141.6(CNTNAP2):c.1606G>A (p.Val536Met) rs2116454090
NM_014141.6(CNTNAP2):c.1607T>A (p.Val536Glu) rs1796801533
NM_014141.6(CNTNAP2):c.161T>C (p.Ile54Thr) rs2129185975
NM_014141.6(CNTNAP2):c.1639G>C (p.Val547Leu) rs1796802371
NM_014141.6(CNTNAP2):c.1670+5A>G
NM_014141.6(CNTNAP2):c.1678C>A (p.Pro560Thr)
NM_014141.6(CNTNAP2):c.1679C>G (p.Pro560Arg) rs1064795313
NM_014141.6(CNTNAP2):c.16C>G (p.Arg6Gly) rs1584757095
NM_014141.6(CNTNAP2):c.1700G>C (p.Gly567Ala) rs1584764202
NM_014141.6(CNTNAP2):c.1709C>G (p.Ser570Trp) rs377627481
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.6(CNTNAP2):c.171_203del (p.Ser57_Lys67del) rs2129185977
NM_014141.6(CNTNAP2):c.1720G>A (p.Asp574Asn) rs2116638151
NM_014141.6(CNTNAP2):c.1725C>G (p.Ser575Arg) rs940446033
NM_014141.6(CNTNAP2):c.173A>G (p.Tyr58Cys) rs747525088
NM_014141.6(CNTNAP2):c.1745A>G (p.Glu582Gly) rs1554490561
NM_014141.6(CNTNAP2):c.1789C>A (p.Pro597Thr) rs1194751419
NM_014141.6(CNTNAP2):c.1790C>A (p.Pro597His) rs1800075941
NM_014141.6(CNTNAP2):c.1801G>A (p.Ala601Thr)
NM_014141.6(CNTNAP2):c.1807A>G (p.Lys603Glu)
NM_014141.6(CNTNAP2):c.1828A>G (p.Asn610Asp)
NM_014141.6(CNTNAP2):c.1847C>T (p.Pro616Leu)
NM_014141.6(CNTNAP2):c.1855A>T (p.Ser619Cys) rs2116789426
NM_014141.6(CNTNAP2):c.1861C>A (p.Pro621Thr) rs779028422
NM_014141.6(CNTNAP2):c.187G>A (p.Ala63Thr)
NM_014141.6(CNTNAP2):c.188C>T (p.Ala63Val)
NM_014141.6(CNTNAP2):c.1918G>A (p.Val640Met) rs1436303522
NM_014141.6(CNTNAP2):c.191A>T (p.Lys64Met) rs2129185984
NM_014141.6(CNTNAP2):c.1940A>C (p.Gln647Pro)
NM_014141.6(CNTNAP2):c.195A>G (p.Ile65Met)
NM_014141.6(CNTNAP2):c.1971A>C (p.Lys657Asn) rs1280149378
NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg) rs759797092
NM_014141.6(CNTNAP2):c.2005A>G (p.Met669Val) rs1795236116
NM_014141.6(CNTNAP2):c.2005A>T (p.Met669Leu)
NM_014141.6(CNTNAP2):c.2020G>A (p.Ala674Thr)
NM_014141.6(CNTNAP2):c.2023A>G (p.Ile675Val) rs886042710
NM_014141.6(CNTNAP2):c.2027C>G (p.Thr676Ser) rs1231712699
NM_014141.6(CNTNAP2):c.2034T>A (p.Ser678Arg) rs756765232
NM_014141.6(CNTNAP2):c.2036C>T (p.Ala679Val) rs1346819264
NM_014141.6(CNTNAP2):c.2044T>G (p.Cys682Gly) rs1193166211
NM_014141.6(CNTNAP2):c.2047G>A (p.Glu683Lys) rs372580822
NM_014141.6(CNTNAP2):c.2047G>C (p.Glu683Gln) rs372580822
NM_014141.6(CNTNAP2):c.2063A>C (p.Tyr688Ser)
NM_014141.6(CNTNAP2):c.2072A>G (p.Lys691Arg) rs1164859486
NM_014141.6(CNTNAP2):c.208+3A>G
NM_014141.6(CNTNAP2):c.208G>C (p.Gly70Arg) rs758143699
NM_014141.6(CNTNAP2):c.209-3C>T rs1585116277
NM_014141.6(CNTNAP2):c.209-9C>A rs2129200456
NM_014141.6(CNTNAP2):c.2096C>T (p.Pro699Leu) rs764412489
NM_014141.6(CNTNAP2):c.2098+6C>A rs1026244799
NM_014141.6(CNTNAP2):c.2114C>T (p.Thr705Ile) rs1585019989
NM_014141.6(CNTNAP2):c.2136C>A (p.Asn712Lys) rs187552025
NM_014141.6(CNTNAP2):c.2136_2137delinsAA (p.Asn712_Glu713delinsLysLys) rs1554447800
NM_014141.6(CNTNAP2):c.2150A>G (p.Tyr717Cys)
NM_014141.6(CNTNAP2):c.2171G>C (p.Gly724Ala) rs1554447808
NM_014141.6(CNTNAP2):c.2197G>C (p.Glu733Gln)
NM_014141.6(CNTNAP2):c.2200C>T (p.Arg734Cys)
NM_014141.6(CNTNAP2):c.2204A>G (p.Asn735Ser) rs2116752398
NM_014141.6(CNTNAP2):c.2206T>C (p.Cys736Arg)
NM_014141.6(CNTNAP2):c.2227T>C (p.Cys743Arg) rs886042257
NM_014141.6(CNTNAP2):c.2236G>A (p.Asp746Asn)
NM_014141.6(CNTNAP2):c.2238C>A (p.Asp746Glu) rs375648820
NM_014141.6(CNTNAP2):c.2243A>C (p.Asp748Ala)
NM_014141.6(CNTNAP2):c.2249A>G (p.Lys750Arg)
NM_014141.6(CNTNAP2):c.2255+3G>A rs1366034966
NM_014141.6(CNTNAP2):c.2267C>T (p.Ala756Val) rs2116865083
NM_014141.6(CNTNAP2):c.2274C>G (p.Phe758Leu) rs778143284
NM_014141.6(CNTNAP2):c.2296C>A (p.Pro766Thr)
NM_014141.6(CNTNAP2):c.2300T>C (p.Val767Ala) rs2116865159
NM_014141.6(CNTNAP2):c.2307A>C (p.Gln769His) rs761592112
NM_014141.6(CNTNAP2):c.2320G>A (p.Asp774Asn) rs779885390
NM_014141.6(CNTNAP2):c.2336G>C (p.Gly779Ala) rs200413148
NM_014141.6(CNTNAP2):c.2342A>G (p.Glu781Gly)
NM_014141.6(CNTNAP2):c.2348A>C (p.Lys783Thr) rs1198403790
NM_014141.6(CNTNAP2):c.2353A>G (p.Ser785Gly) rs1456760957
NM_014141.6(CNTNAP2):c.2356G>A (p.Val786Ile) rs138517537
NM_014141.6(CNTNAP2):c.2368C>A (p.Arg790Ser) rs200089329
NM_014141.6(CNTNAP2):c.237C>A (p.Ser79Arg) rs145162968
NM_014141.6(CNTNAP2):c.2382C>T (p.Asp794=) rs1801460056
NM_014141.6(CNTNAP2):c.2399C>A (p.Ala800Asp) rs780607411
NM_014141.6(CNTNAP2):c.2401G>A (p.Ala801Thr)
NM_014141.6(CNTNAP2):c.2410C>T (p.Pro804Ser) rs2116608255
NM_014141.6(CNTNAP2):c.2411C>G (p.Pro804Arg) rs796052376
NM_014141.6(CNTNAP2):c.2417C>T (p.Pro806Leu) rs1303206447
NM_014141.6(CNTNAP2):c.241C>G (p.His81Asp)
NM_014141.6(CNTNAP2):c.2440A>G (p.Thr814Ala) rs1060503571
NM_014141.6(CNTNAP2):c.2456C>A (p.Thr819Asn)
NM_014141.6(CNTNAP2):c.2456C>T (p.Thr819Ile)
NM_014141.6(CNTNAP2):c.245A>T (p.Tyr82Phe) rs771335680
NM_014141.6(CNTNAP2):c.2460C>A (p.Ser820Arg) rs144496909
NM_014141.6(CNTNAP2):c.2491A>G (p.Thr831Ala) rs2116608455
NM_014141.6(CNTNAP2):c.2492C>A (p.Thr831Asn) rs138344590
NM_014141.6(CNTNAP2):c.2492C>G (p.Thr831Ser) rs138344590
NM_014141.6(CNTNAP2):c.2495C>T (p.Pro832Leu) rs1355420376
NM_014141.6(CNTNAP2):c.249A>T (p.Gln83His)
NM_014141.6(CNTNAP2):c.2518A>G (p.Met840Val) rs1804518982
NM_014141.6(CNTNAP2):c.2520G>A (p.Met840Ile) rs779395215
NM_014141.6(CNTNAP2):c.2530G>T (p.Asp844Tyr)
NM_014141.6(CNTNAP2):c.2536A>G (p.Ile846Val) rs1804519311
NM_014141.6(CNTNAP2):c.2540A>G (p.Lys847Arg)
NM_014141.6(CNTNAP2):c.2554+7A>G
NM_014141.6(CNTNAP2):c.2560A>G (p.Thr854Ala)
NM_014141.6(CNTNAP2):c.2570C>A (p.Ser857Tyr) rs200330677
NM_014141.6(CNTNAP2):c.2570C>T (p.Ser857Phe) rs200330677
NM_014141.6(CNTNAP2):c.2573T>G (p.Phe858Cys) rs2116652377
NM_014141.6(CNTNAP2):c.2580T>A (p.Phe860Leu) rs1563214671
NM_014141.6(CNTNAP2):c.2581G>C (p.Asp861His)
NM_014141.6(CNTNAP2):c.2584G>T (p.Val862Leu) rs1805210126
NM_014141.6(CNTNAP2):c.2611G>T (p.Val871Leu)
NM_014141.6(CNTNAP2):c.2620C>A (p.Pro874Thr) rs1282340226
NM_014141.6(CNTNAP2):c.2646G>C (p.Trp882Cys) rs1247068015
NM_014141.6(CNTNAP2):c.2647C>T (p.His883Tyr)
NM_014141.6(CNTNAP2):c.2659G>A (p.Ala887Thr) rs2116652575
NM_014141.6(CNTNAP2):c.2722G>A (p.Ala908Thr)
NM_014141.6(CNTNAP2):c.2728A>G (p.Thr910Ala) rs1366092457
NM_014141.6(CNTNAP2):c.2729C>T (p.Thr910Ile) rs2116652718
NM_014141.6(CNTNAP2):c.2734G>A (p.Gly912Ser) rs1805215204
NM_014141.6(CNTNAP2):c.2743C>T (p.Arg915Cys) rs756798140
NM_014141.6(CNTNAP2):c.2744G>A (p.Arg915His) rs369919189
NM_014141.6(CNTNAP2):c.2744G>T (p.Arg915Leu) rs369919189
NM_014141.6(CNTNAP2):c.2780C>A (p.Ala927Asp) rs2116690838
NM_014141.6(CNTNAP2):c.2785G>A (p.Gly929Ser)
NM_014141.6(CNTNAP2):c.2794G>A (p.Gly932Ser)
NM_014141.6(CNTNAP2):c.2797T>G (p.Phe933Val)
NM_014141.6(CNTNAP2):c.2833G>A (p.Val945Met) rs1805807689
NM_014141.6(CNTNAP2):c.2844C>A (p.Asp948Glu)
NM_014141.6(CNTNAP2):c.2849A>G (p.Glu950Gly)
NM_014141.6(CNTNAP2):c.2900G>T (p.Cys967Phe)
NM_014141.6(CNTNAP2):c.2921G>A (p.Cys974Tyr) rs1805809677
NM_014141.6(CNTNAP2):c.292A>G (p.Ile98Val) rs760112389
NM_014141.6(CNTNAP2):c.2942T>C (p.Leu981Pro) rs1187753598
NM_014141.6(CNTNAP2):c.2945A>G (p.Glu982Gly) rs752419100
NM_014141.6(CNTNAP2):c.2946G>C (p.Glu982Asp) rs1416168750
NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln) rs138257598
NM_014141.6(CNTNAP2):c.3040T>C (p.Trp1014Arg) rs796052390
NM_014141.6(CNTNAP2):c.3057T>G (p.Phe1019Leu) rs761529459
NM_014141.6(CNTNAP2):c.3061G>A (p.Ala1021Thr) rs1585194570
NM_014141.6(CNTNAP2):c.3062C>T (p.Ala1021Val) rs1162286634
NM_014141.6(CNTNAP2):c.306_308dup (p.Arg103_Tyr104insArg)
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_014141.6(CNTNAP2):c.3077C>T (p.Ala1026Val)
NM_014141.6(CNTNAP2):c.3080G>C (p.Arg1027Thr)
NM_014141.6(CNTNAP2):c.3083A>G (p.Asp1028Gly) rs1338782482
NM_014141.6(CNTNAP2):c.3086C>T (p.Ser1029Phe) rs1795660784
NM_014141.6(CNTNAP2):c.3088A>G (p.Ser1030Gly)
NM_014141.6(CNTNAP2):c.3106G>T (p.Ala1036Ser) rs545175315
NM_014141.6(CNTNAP2):c.3107C>T (p.Ala1036Val) rs149506328
NM_014141.6(CNTNAP2):c.3112G>C (p.Asp1038His)
NM_014141.6(CNTNAP2):c.3158T>G (p.Phe1053Cys) rs2116757389
NM_014141.6(CNTNAP2):c.3161G>A (p.Ser1054Asn) rs1795663851
NM_014141.6(CNTNAP2):c.3176A>G (p.Lys1059Arg)
NM_014141.6(CNTNAP2):c.317G>C (p.Ser106Thr)
NM_014141.6(CNTNAP2):c.3197A>G (p.Tyr1066Cys) rs1795664797
NM_014141.6(CNTNAP2):c.3199A>G (p.Ile1067Val)
NM_014141.6(CNTNAP2):c.3206C>A (p.Ser1069Tyr) rs1795665049
NM_014141.6(CNTNAP2):c.3227C>A (p.Ala1076Glu) rs1288501805
NM_014141.6(CNTNAP2):c.3233T>A (p.Leu1078His)
NM_014141.6(CNTNAP2):c.324T>A (p.Asp108Glu)
NM_014141.6(CNTNAP2):c.3257A>G (p.Gln1086Arg)
NM_014141.6(CNTNAP2):c.3262C>G (p.Arg1088Gly)
NM_014141.6(CNTNAP2):c.3263G>T (p.Arg1088Leu) rs201827086
NM_014141.6(CNTNAP2):c.3272T>C (p.Leu1091Pro) rs2116779011
NM_014141.6(CNTNAP2):c.328G>A (p.Val110Met)
NM_014141.6(CNTNAP2):c.3292T>C (p.Tyr1098His) rs1484284253
NM_014141.6(CNTNAP2):c.3295A>G (p.Asn1099Asp)
NM_014141.6(CNTNAP2):c.3305T>A (p.Val1102Glu)
NM_014141.6(CNTNAP2):c.3315G>C (p.Arg1105Ser) rs2116779143
NM_014141.6(CNTNAP2):c.3317A>G (p.Asn1106Ser) rs1554405605
NM_014141.6(CNTNAP2):c.332C>A (p.Thr111Asn) rs2129200527
NM_014141.6(CNTNAP2):c.3337C>T (p.His1113Tyr) rs1300346365
NM_014141.6(CNTNAP2):c.3340A>C (p.Ser1114Arg)
NM_014141.6(CNTNAP2):c.3346A>G (p.Asn1116Asp) rs796052383
NM_014141.6(CNTNAP2):c.3361G>C (p.Glu1121Gln) rs572154707
NM_014141.6(CNTNAP2):c.3385G>A (p.Asp1129Asn) rs781236853
NM_014141.6(CNTNAP2):c.3385G>C (p.Asp1129His)
NM_014141.6(CNTNAP2):c.3386A>G (p.Asp1129Gly)
NM_014141.6(CNTNAP2):c.3388C>T (p.His1130Tyr) rs867798232
NM_014141.6(CNTNAP2):c.3397_3399del (p.Ser1133del) rs1303107441
NM_014141.6(CNTNAP2):c.3401T>G (p.Val1134Gly) rs1796684694
NM_014141.6(CNTNAP2):c.3410A>G (p.His1137Arg) rs775065734
NM_014141.6(CNTNAP2):c.3416C>A (p.Pro1139Gln)
NM_014141.6(CNTNAP2):c.3431C>A (p.Thr1144Asn) rs775781258
NM_014141.6(CNTNAP2):c.3433C>G (p.Leu1145Val) rs1284175785
NM_014141.6(CNTNAP2):c.343A>T (p.Met115Leu) rs758526505
NM_014141.6(CNTNAP2):c.3440A>G (p.Asn1147Ser)
NM_014141.6(CNTNAP2):c.344T>C (p.Met115Thr)
NM_014141.6(CNTNAP2):c.3462G>A (p.Leu1154=) rs1796686602
NM_014141.6(CNTNAP2):c.3469G>A (p.Val1157Ile) rs920768770
NM_014141.6(CNTNAP2):c.3469G>C (p.Val1157Leu)
NM_014141.6(CNTNAP2):c.3474A>G (p.Ile1158Met) rs1554409689
NM_014141.6(CNTNAP2):c.3494A>G (p.Gln1165Arg)
NM_014141.6(CNTNAP2):c.3517C>G (p.Pro1173Ala) rs772569737
NM_014141.6(CNTNAP2):c.3530G>A (p.Gly1177Asp)
NM_014141.6(CNTNAP2):c.3541A>G (p.Arg1181Gly)
NM_014141.6(CNTNAP2):c.3549G>C (p.Gln1183His) rs1316112335
NM_014141.6(CNTNAP2):c.3552C>A (p.Phe1184Leu)
NM_014141.6(CNTNAP2):c.3552C>G (p.Phe1184Leu)
NM_014141.6(CNTNAP2):c.3555C>G (p.Asn1185Lys) rs369699763
NM_014141.6(CNTNAP2):c.3577G>T (p.Ala1193Ser) rs751491210
NM_014141.6(CNTNAP2):c.3587A>T (p.Gln1196Leu) rs2116659507
NM_014141.6(CNTNAP2):c.3590C>T (p.Thr1197Ile) rs760790277
NM_014141.6(CNTNAP2):c.3592A>G (p.Asn1198Asp) rs754005565
NM_014141.6(CNTNAP2):c.359C>T (p.Thr120Ile) rs1585116406
NM_014141.6(CNTNAP2):c.35C>T (p.Ala12Val)
NM_014141.6(CNTNAP2):c.3607G>C (p.Val1203Leu) rs745397865
NM_014141.6(CNTNAP2):c.3613A>G (p.Ile1205Val) rs1799127351
NM_014141.6(CNTNAP2):c.3621C>T (p.Gly1207=) rs1387218532
NM_014141.6(CNTNAP2):c.3628G>A (p.Val1210Met)
NM_014141.6(CNTNAP2):c.3646G>A (p.Ala1216Thr) rs1799128413
NM_014141.6(CNTNAP2):c.3646G>T (p.Ala1216Ser) rs1799128413
NM_014141.6(CNTNAP2):c.3647C>G (p.Ala1216Gly) rs553418598
NM_014141.6(CNTNAP2):c.3647C>T (p.Ala1216Val) rs553418598
NM_014141.6(CNTNAP2):c.3649T>C (p.Ser1217Pro) rs2116659710
NM_014141.6(CNTNAP2):c.3671T>A (p.Met1224Lys) rs1563066784
NM_014141.6(CNTNAP2):c.3674C>T (p.Ser1225Leu) rs147706292
NM_014141.6(CNTNAP2):c.3679G>A (p.Ala1227Thr) rs761684414
NM_014141.6(CNTNAP2):c.3685G>A (p.Asp1229Asn)
NM_014141.6(CNTNAP2):c.3716-3C>T rs773258369
NM_014141.6(CNTNAP2):c.3721G>A (p.Ala1241Thr) rs1323109339
NM_014141.6(CNTNAP2):c.3736A>G (p.Asn1246Asp)
NM_014141.6(CNTNAP2):c.3775A>G (p.Arg1259Gly) rs1585354447
NM_014141.6(CNTNAP2):c.3782C>T (p.Ser1261Leu) rs1294662477
NM_014141.6(CNTNAP2):c.3797-1G>T
NM_014141.6(CNTNAP2):c.3811G>C (p.Val1271Leu) rs773493508
NM_014141.6(CNTNAP2):c.3812T>G (p.Val1271Gly)
NM_014141.6(CNTNAP2):c.3814A>C (p.Ile1272Leu)
NM_014141.6(CNTNAP2):c.3817T>C (p.Phe1273Leu)
NM_014141.6(CNTNAP2):c.3821C>G (p.Thr1274Ser) rs1275966204
NM_014141.6(CNTNAP2):c.3827T>C (p.Leu1276Pro) rs1554432746
NM_014141.6(CNTNAP2):c.3847A>G (p.Ile1283Val)
NM_014141.6(CNTNAP2):c.3850C>T (p.Arg1284Trp) rs763809167
NM_014141.6(CNTNAP2):c.3856dup (p.Met1286fs) rs2116730045
NM_014141.6(CNTNAP2):c.385C>G (p.Gln129Glu) rs1803686624
NM_014141.6(CNTNAP2):c.3862C>A (p.Arg1288Ser) rs138661307
NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys) rs138661307
NM_014141.6(CNTNAP2):c.3867_3894dup (p.Lys1299fs) rs1799962147
NM_014141.6(CNTNAP2):c.387A>T (p.Gln129His) rs150607716
NM_014141.6(CNTNAP2):c.3887A>G (p.Asn1296Ser) rs1799962504
NM_014141.6(CNTNAP2):c.3888C>G (p.Asn1296Lys) rs1460281368
NM_014141.6(CNTNAP2):c.3897G>C (p.Lys1299Asn) rs1585362663
NM_014141.6(CNTNAP2):c.3902C>G (p.Ala1301Gly) rs776987592
NM_014141.6(CNTNAP2):c.390T>A (p.Asp130Glu) rs1413930857
NM_014141.6(CNTNAP2):c.3932_3949del (p.Ile1311_Pro1316del) rs1799965374
NM_014141.6(CNTNAP2):c.3937AAC[1] (p.Asn1314del) rs1799965605
NM_014141.6(CNTNAP2):c.3946C>T (p.Pro1316Ser) rs1799966058
NM_014141.6(CNTNAP2):c.3947C>G (p.Pro1316Arg) rs2116730335
NM_014141.6(CNTNAP2):c.3983A>G (p.Glu1328Gly)
NM_014141.6(CNTNAP2):c.3983_*2del (p.Glu1328fs) rs1799967583
NM_014141.6(CNTNAP2):c.401G>T (p.Trp134Leu)
NM_014141.6(CNTNAP2):c.404C>A (p.Ala135Glu) rs2129255279
NM_014141.6(CNTNAP2):c.422A>T (p.Asn141Ile) rs1799305542
NM_014141.6(CNTNAP2):c.470G>A (p.Arg157His) rs772931700
NM_014141.6(CNTNAP2):c.475G>A (p.Val159Met)
NM_014141.6(CNTNAP2):c.479G>T (p.Arg160Leu) rs138738227
NM_014141.6(CNTNAP2):c.487C>T (p.Pro163Ser)
NM_014141.6(CNTNAP2):c.48G>T (p.Trp16Cys) rs886044073
NM_014141.6(CNTNAP2):c.494A>G (p.Asp165Gly) rs767592618
NM_014141.6(CNTNAP2):c.505G>A (p.Glu169Lys) rs1799307714
NM_014141.6(CNTNAP2):c.512G>A (p.Arg171His) rs368487049
NM_014141.6(CNTNAP2):c.512G>T (p.Arg171Leu) rs368487049
NM_014141.6(CNTNAP2):c.518G>T (p.Gly173Val) rs748668296
NM_014141.6(CNTNAP2):c.527T>C (p.Ile176Thr) rs2129255377
NM_014141.6(CNTNAP2):c.532G>A (p.Val178Ile) rs2129255381
NM_014141.6(CNTNAP2):c.541T>C (p.Cys181Arg)
NM_014141.6(CNTNAP2):c.542G>A (p.Cys181Tyr) rs1799308437
NM_014141.6(CNTNAP2):c.550+5G>T rs1799308778
NM_014141.6(CNTNAP2):c.557A>G (p.Asp186Gly) rs2129279522
NM_014141.6(CNTNAP2):c.563T>A (p.Ile188Asn)
NM_014141.6(CNTNAP2):c.580G>C (p.Val194Leu) rs753151283
NM_014141.6(CNTNAP2):c.598T>C (p.Phe200Leu) rs1800804553
NM_014141.6(CNTNAP2):c.5A>G (p.Gln2Arg) rs1797490798
NM_014141.6(CNTNAP2):c.615G>A (p.Met205Ile)
NM_014141.6(CNTNAP2):c.631G>A (p.Val211Ile) rs749043222
NM_014141.6(CNTNAP2):c.638C>T (p.Ala213Val) rs1563079216
NM_014141.6(CNTNAP2):c.655T>G (p.Ser219Ala)
NM_014141.6(CNTNAP2):c.662G>A (p.Ser221Asn)
NM_014141.6(CNTNAP2):c.674T>G (p.Ile225Ser)
NM_014141.6(CNTNAP2):c.682G>A (p.Gly228Arg) rs371512835
NM_014141.6(CNTNAP2):c.683G>T (p.Gly228Val)
NM_014141.6(CNTNAP2):c.688G>A (p.Gly230Arg) rs1178323739
NM_014141.6(CNTNAP2):c.702T>A (p.Asp234Glu) rs2129279570
NM_014141.6(CNTNAP2):c.703T>A (p.Tyr235Asn) rs2129279573
NM_014141.6(CNTNAP2):c.718C>G (p.Leu240Val) rs538043826
NM_014141.6(CNTNAP2):c.727G>A (p.Ala243Thr) rs1209945869
NM_014141.6(CNTNAP2):c.742A>C (p.Ser248Arg)
NM_014141.6(CNTNAP2):c.777A>G (p.Ile259Met) rs1554440667
NM_014141.6(CNTNAP2):c.778T>C (p.Tyr260His) rs376365253
NM_014141.6(CNTNAP2):c.778_780del (p.Tyr260del) rs2129282702
NM_014141.6(CNTNAP2):c.782G>T (p.Gly261Val) rs1801100045
NM_014141.6(CNTNAP2):c.796A>T (p.Met266Leu) rs1042657310
NM_014141.6(CNTNAP2):c.811C>G (p.Leu271Val)
NM_014141.6(CNTNAP2):c.814G>A (p.Asp272Asn) rs2129282713
NM_014141.6(CNTNAP2):c.820C>T (p.His274Tyr) rs2129282716
NM_014141.6(CNTNAP2):c.826T>C (p.Trp276Arg)
NM_014141.6(CNTNAP2):c.830A>C (p.His277Pro)
NM_014141.6(CNTNAP2):c.836T>C (p.Val279Ala) rs1436647944
NM_014141.6(CNTNAP2):c.842T>C (p.Ile281Thr) rs1801101439
NM_014141.6(CNTNAP2):c.845A>G (p.Glu282Gly) rs2129282723
NM_014141.6(CNTNAP2):c.860G>T (p.Ser287Ile) rs140716136
NM_014141.6(CNTNAP2):c.861C>G (p.Ser287Arg) rs1015511874
NM_014141.6(CNTNAP2):c.862A>C (p.Ile288Leu)
NM_014141.6(CNTNAP2):c.875T>A (p.Leu292Gln) rs1801102530
NM_014141.6(CNTNAP2):c.882G>C (p.Arg294Ser)
NM_014141.6(CNTNAP2):c.889C>A (p.Gln297Lys)
NM_014141.6(CNTNAP2):c.892C>T (p.His298Tyr)
NM_014141.6(CNTNAP2):c.89C>G (p.Ser30Cys)
NM_014141.6(CNTNAP2):c.905A>G (p.Asn302Ser) rs1060503569
NM_014141.6(CNTNAP2):c.920A>G (p.Tyr307Cys)
NM_014141.6(CNTNAP2):c.931G>A (p.Asp311Asn) rs2129282747
NM_014141.6(CNTNAP2):c.940-3A>G
NM_014141.6(CNTNAP2):c.944C>T (p.Thr315Ile) rs2129284381
NM_014141.6(CNTNAP2):c.946T>C (p.Phe316Leu) rs1801287321
NM_014141.6(CNTNAP2):c.958C>T (p.Pro320Ser) rs113086771
NM_014141.6(CNTNAP2):c.959C>G (p.Pro320Arg)
NM_014141.6(CNTNAP2):c.97C>G (p.Gln33Glu)

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