ClinVar Miner

List of variants in gene CNTNAP2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 264
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HGVS dbSNP
GRCh37/hg19 7q35(chr7:145744025-145874195)x1
GRCh37/hg19 7q35(chr7:145931818-146138838)x1
GRCh37/hg19 7q35(chr7:145996006-146325412)x1
GRCh37/hg19 7q35(chr7:146083639-146260337)x1
GRCh37/hg19 7q35(chr7:146133926-146138550)x1
GRCh37/hg19 7q35(chr7:146133926-146139175)x1
GRCh37/hg19 7q35(chr7:146175409-146431210)x1
GRCh37/hg19 7q35(chr7:146222865-146254508)x3
GRCh37/hg19 7q35(chr7:146222865-146257321)x3
GRCh37/hg19 7q35(chr7:146223131-146254508)x3
GRCh37/hg19 7q35(chr7:146471401-146553618)x1
GRCh37/hg19 7q35(chr7:146738981-146848582)x3
GRCh37/hg19 7q35(chr7:147011388-147012671)x1
GRCh37/hg19 7q35(chr7:147117454-147169167)x1
GRCh37/hg19 7q35(chr7:147157534-147170416)x1
GRCh37/hg19 7q36.1(chr7:148069482-148076266)x0
GRCh37/hg19 7q36.1(chr7:148069482-148084632)x0
GRCh37/hg19 7q36.1(chr7:148074379-148084632)x0
GRCh37/hg19 7q36.1(chr7:148074379-148087337)x0
GRCh37/hg19 7q36.1(chr7:148074486-148080647)x0
NM_014141.5(CNTNAP2):c.1028A>G (p.Asn343Ser) rs746335569
NM_014141.5(CNTNAP2):c.1030G>A (p.Gly344Ser) rs367878797
NM_014141.5(CNTNAP2):c.1033G>A (p.Val345Ile) rs145832489
NM_014141.5(CNTNAP2):c.1037A>G (p.Asn346Ser) rs748787013
NM_014141.5(CNTNAP2):c.1051G>A (p.Ala351Thr) rs201253086
NM_014141.5(CNTNAP2):c.1076C>G (p.Ser359Ter) rs1057520743
NM_014141.5(CNTNAP2):c.1078A>G (p.Asn360Asp) rs570190374
NM_014141.5(CNTNAP2):c.1079A>G (p.Asn360Ser) rs794727873
NM_014141.5(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.5(CNTNAP2):c.1099T>C (p.Ser367Pro) rs564865065
NM_014141.5(CNTNAP2):c.1105G>T (p.Val369Leu) rs368057493
NM_014141.5(CNTNAP2):c.1123C>T (p.Pro375Ser) rs757993314
NM_014141.5(CNTNAP2):c.1137C>A (p.Asn379Lys) rs78543192
NM_014141.5(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475
NM_014141.5(CNTNAP2):c.115C>T (p.Leu39Phe) rs747896321
NM_014141.5(CNTNAP2):c.1165C>T (p.Arg389Trp) rs375172684
NM_014141.5(CNTNAP2):c.1166G>A (p.Arg389Gln) rs548409884
NM_014141.5(CNTNAP2):c.1173C>G (p.Asn391Lys) rs796052370
NM_014141.5(CNTNAP2):c.1238G>A (p.Ser413Asn) rs796052371
NM_014141.5(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978
NM_014141.5(CNTNAP2):c.1259G>A (p.Gly420Asp) rs200673864
NM_014141.5(CNTNAP2):c.1264G>A (p.Val422Met) rs796052372
NM_014141.5(CNTNAP2):c.1273G>A (p.Asp425Asn) rs796052373
NM_014141.5(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.5(CNTNAP2):c.1328G>A (p.Ser443Asn) rs1064794457
NM_014141.5(CNTNAP2):c.1337A>G (p.Asp446Gly) rs753860243
NM_014141.5(CNTNAP2):c.1346C>G (p.Ser449Ter) rs796052374
NM_014141.5(CNTNAP2):c.136G>A (p.Val46Met) rs137924687
NM_014141.5(CNTNAP2):c.1385G>A (p.Arg462His) rs774717843
NM_014141.5(CNTNAP2):c.1406T>C (p.Phe469Ser) rs568653133
NM_014141.5(CNTNAP2):c.1447C>T (p.Arg483Ter) rs752550849
NM_014141.5(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062
NM_014141.5(CNTNAP2):c.1458T>A (p.Ser486Arg) rs756274887
NM_014141.5(CNTNAP2):c.1504C>G (p.Leu502Val) rs368470905
NM_014141.5(CNTNAP2):c.1526G>A (p.Ser509Asn) rs794726999
NM_014141.5(CNTNAP2):c.1543C>A (p.Pro515Thr) rs1064794493
NM_014141.5(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147
NM_014141.5(CNTNAP2):c.1597T>A (p.Leu533Ile) rs781114080
NM_014141.5(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298
NM_014141.5(CNTNAP2):c.1651_1652delAT (p.Met551Valfs) rs1064796071
NM_014141.5(CNTNAP2):c.1652T>A (p.Met551Lys) rs1085307865
NM_014141.5(CNTNAP2):c.1671-1G>T rs730880276
NM_014141.5(CNTNAP2):c.1679C>G (p.Pro560Arg) rs1064795313
NM_014141.5(CNTNAP2):c.1682A>G (p.Asn561Ser) rs1488248731
NM_014141.5(CNTNAP2):c.1709C>G (p.Ser570Trp) rs377627481
NM_014141.5(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.5(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.5(CNTNAP2):c.1723A>T (p.Ser575Cys) rs794727033
NM_014141.5(CNTNAP2):c.1769G>A (p.Cys590Tyr) rs398124267
NM_014141.5(CNTNAP2):c.1777+7G>A rs770951811
NM_014141.5(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983
NM_014141.5(CNTNAP2):c.180C>T (p.Pro60=) rs753396304
NM_014141.5(CNTNAP2):c.1814T>G (p.Leu605Arg) rs763561962
NM_014141.5(CNTNAP2):c.1819C>T (p.Gln607Ter) rs886041991
NM_014141.5(CNTNAP2):c.181G>A (p.Gly61Ser) rs376929846
NM_014141.5(CNTNAP2):c.1846C>T (p.Pro616Ser) rs587780319
NM_014141.5(CNTNAP2):c.1858G>A (p.Gly620Arg) rs142980731
NM_014141.5(CNTNAP2):c.1861C>A (p.Pro621Thr) rs779028422
NM_014141.5(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659
NM_014141.5(CNTNAP2):c.1896A>C (p.Thr632=)
NM_014141.5(CNTNAP2):c.18C>A (p.Arg6=) rs748908765
NM_014141.5(CNTNAP2):c.1905A>T (p.Lys635Asn) rs1554415956
NM_014141.5(CNTNAP2):c.1943C>T (p.Thr648Met) rs534215627
NM_014141.5(CNTNAP2):c.1977_1989delAGTGACACAGCTC (p.Val660Phefs) rs1064796221
NM_014141.5(CNTNAP2):c.1997G>A (p.Ser666Asn) rs200098672
NM_014141.5(CNTNAP2):c.19G>T (p.Ala7Ser) rs1064795189
NM_014141.5(CNTNAP2):c.200A>G (p.Lys67Arg) rs755518759
NM_014141.5(CNTNAP2):c.2023A>G (p.Ile675Val) rs886042710
NM_014141.5(CNTNAP2):c.2047G>A (p.Glu683Lys) rs372580822
NM_014141.5(CNTNAP2):c.2050C>T (p.Gln684Ter) rs1057520549
NM_014141.5(CNTNAP2):c.208G>C (p.Gly70Arg) rs758143699
NM_014141.5(CNTNAP2):c.2096dupC (p.Asp700Argfs) rs1554416016
NM_014141.5(CNTNAP2):c.2097A>G (p.Pro699=) rs752072791
NM_014141.5(CNTNAP2):c.2110T>G (p.Tyr704Asp) rs1064794597
NM_014141.5(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.5(CNTNAP2):c.2136C>A (p.Asn712Lys) rs187552025
NM_014141.5(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.5(CNTNAP2):c.2136_2137delCGinsAA (p.Asn712_Glu713delinsLysLys) rs1554447800
NM_014141.5(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032
NM_014141.5(CNTNAP2):c.2153G>A (p.Trp718Ter) rs398124268
NM_014141.5(CNTNAP2):c.2186C>T (p.Ala729Val) rs758221358
NM_014141.5(CNTNAP2):c.2191G>A (p.Gly731Ser) rs369867547
NM_014141.5(CNTNAP2):c.2205C>A (p.Asn735Lys) rs200610099
NM_014141.5(CNTNAP2):c.2227T>C (p.Cys743Arg) rs886042257
NM_014141.5(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671
NM_014141.5(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712
NM_014141.5(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.5(CNTNAP2):c.2269G>T (p.Gly757Cys) rs755268329
NM_014141.5(CNTNAP2):c.2274C>G (p.Phe758Leu) rs778143284
NM_014141.5(CNTNAP2):c.2281T>C (p.Tyr761His) rs1085307540
NM_014141.5(CNTNAP2):c.2288A>G (p.Asp763Gly) rs201483304
NM_014141.5(CNTNAP2):c.2290C>A (p.His764Asn) rs201446615
NM_014141.5(CNTNAP2):c.2292C>T (p.His764=) rs143286960
NM_014141.5(CNTNAP2):c.2315T>C (p.Val772Ala) rs370466945
NM_014141.5(CNTNAP2):c.2330G>C (p.Arg777Pro) rs752756517
NM_014141.5(CNTNAP2):c.2356G>A (p.Val786Ile) rs138517537
NM_014141.5(CNTNAP2):c.2368C>T (p.Arg790Cys) rs200089329
NM_014141.5(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271
NM_014141.5(CNTNAP2):c.237C>T (p.Ser79=) rs145162968
NM_014141.5(CNTNAP2):c.238G>A (p.Asp80Asn) rs370057104
NM_014141.5(CNTNAP2):c.2391T>G (p.Tyr797Ter) rs562833882
NM_014141.5(CNTNAP2):c.2411C>G (p.Pro804Arg) rs796052376
NM_014141.5(CNTNAP2):c.2424C>T (p.Ser808=) rs794727172
NM_014141.5(CNTNAP2):c.2460C>A (p.Ser820Arg) rs144496909
NM_014141.5(CNTNAP2):c.2466C>A (p.Asp822Glu) rs1057524723
NM_014141.5(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.5(CNTNAP2):c.250T>C (p.Trp84Arg) rs1554399226
NM_014141.5(CNTNAP2):c.2516A>G (p.Asn839Ser) rs796052377
NM_014141.5(CNTNAP2):c.2525A>G (p.Lys842Arg) rs796052378
NM_014141.5(CNTNAP2):c.252G>C (p.Trp84Cys) rs267601384
NM_014141.5(CNTNAP2):c.2543T>C (p.Leu848Pro) rs902996317
NM_014141.5(CNTNAP2):c.2570C>T (p.Ser857Phe) rs200330677
NM_014141.5(CNTNAP2):c.2593G>A (p.Gly865Arg) rs886042973
NM_014141.5(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445
NM_014141.5(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453
NM_014141.5(CNTNAP2):c.2632A>G (p.Asn878Asp) rs375538831
NM_014141.5(CNTNAP2):c.2650C>T (p.Arg884Trp) rs373383452
NM_014141.5(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057
NM_014141.5(CNTNAP2):c.2653G>C (p.Val885Leu) rs796052379
NM_014141.5(CNTNAP2):c.2689C>A (p.Gln897Lys) rs200300251
NM_014141.5(CNTNAP2):c.268G>C (p.Gly90Arg) rs1057524325
NM_014141.5(CNTNAP2):c.2698C>A (p.Arg900=) rs375318010
NM_014141.5(CNTNAP2):c.2705C>T (p.Pro902Leu) rs202095023
NM_014141.5(CNTNAP2):c.2716C>T (p.Arg906Cys) rs141617212
NM_014141.5(CNTNAP2):c.273T>C (p.Asn91=) rs773595457
NM_014141.5(CNTNAP2):c.2744G>T (p.Arg915Leu) rs369919189
NM_014141.5(CNTNAP2):c.274C>T (p.Arg92Trp) rs747286104
NM_014141.5(CNTNAP2):c.275G>A (p.Arg92Gln) rs138924087
NM_014141.5(CNTNAP2):c.2770G>C (p.Val924Leu) rs1064794451
NM_014141.5(CNTNAP2):c.2773+12A>T rs1064794765
NM_014141.5(CNTNAP2):c.2826G>A (p.Met942Ile) rs796052380
NM_014141.5(CNTNAP2):c.2839C>T (p.Leu947Phe) rs886042305
NM_014141.5(CNTNAP2):c.286A>G (p.Ser96Gly) rs540745201
NM_014141.5(CNTNAP2):c.2891C>T (p.Ser964Leu) rs768784351
NM_014141.5(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.5(CNTNAP2):c.2930G>T (p.Gly977Val) rs796052381
NM_014141.5(CNTNAP2):c.293T>C (p.Ile98Thr) rs146331571
NM_014141.5(CNTNAP2):c.2955C>A (p.His985Gln) rs138257598
NM_014141.5(CNTNAP2):c.2956G>A (p.Gly986Ser) rs751542883
NM_014141.5(CNTNAP2):c.29G>A (p.Gly10Glu) rs886044541
NM_014141.5(CNTNAP2):c.3010G>A (p.Asp1004Asn) rs748508785
NM_014141.5(CNTNAP2):c.3032A>T (p.Glu1011Val) rs1064795182
NM_014141.5(CNTNAP2):c.3039G>A (p.Met1013Ile) rs745718727
NM_014141.5(CNTNAP2):c.3040T>C (p.Trp1014Arg) rs796052390
NM_014141.5(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_014141.5(CNTNAP2):c.3106G>A (p.Ala1036Thr) rs545175315
NM_014141.5(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883
NM_014141.5(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410
NM_014141.5(CNTNAP2):c.3115C>G (p.Gln1039Glu) rs372351365
NM_014141.5(CNTNAP2):c.3116A>C (p.Gln1039Pro) rs1064794761
NM_014141.5(CNTNAP2):c.3132G>A (p.Pro1044=) rs761663690
NM_014141.5(CNTNAP2):c.3154C>T (p.Arg1052Cys) rs139930720
NM_014141.5(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970
NM_014141.5(CNTNAP2):c.3167G>C (p.Ser1056Thr) rs776326011
NM_014141.5(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596
NM_014141.5(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983
NM_014141.5(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.5(CNTNAP2):c.3248-3T>C rs794727326
NM_014141.5(CNTNAP2):c.3263G>A (p.Arg1088Gln) rs201827086
NM_014141.5(CNTNAP2):c.3263G>T (p.Arg1088Leu) rs201827086
NM_014141.5(CNTNAP2):c.3271C>G (p.Leu1091Val) rs756994633
NM_014141.5(CNTNAP2):c.3278G>A (p.Gly1093Asp) rs796052391
NM_014141.5(CNTNAP2):c.3289C>T (p.Pro1097Ser) rs200823464
NM_014141.5(CNTNAP2):c.3304G>A (p.Val1102Ile) rs773399465
NM_014141.5(CNTNAP2):c.3335C>T (p.Pro1112Leu) rs727503876
NM_014141.5(CNTNAP2):c.3344T>C (p.Val1115Ala) rs757813902
NM_014141.5(CNTNAP2):c.3346A>G (p.Asn1116Asp) rs796052383
NM_014141.5(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952
NM_014141.5(CNTNAP2):c.3361G>A (p.Glu1121Lys) rs572154707
NM_014141.5(CNTNAP2):c.3361G>C (p.Glu1121Gln) rs572154707
NM_014141.5(CNTNAP2):c.3379A>G (p.Lys1127Glu) rs1032665509
NM_014141.5(CNTNAP2):c.3382-2A>C rs1085307838
NM_014141.5(CNTNAP2):c.3402G>A (p.Val1134=) rs727503877
NM_014141.5(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792
NM_014141.5(CNTNAP2):c.3427G>A (p.Asp1143Asn) rs765950760
NM_014141.5(CNTNAP2):c.3431C>G (p.Thr1144Ser) rs775781258
NM_014141.5(CNTNAP2):c.343A>C (p.Met115Leu) rs758526505
NM_014141.5(CNTNAP2):c.3473T>A (p.Ile1158Lys) rs1064794544
NM_014141.5(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.5(CNTNAP2):c.354C>T (p.Ser118=) rs141831869
NM_014141.5(CNTNAP2):c.3555C>G (p.Asn1185Lys)
NM_014141.5(CNTNAP2):c.355G>A (p.Asp119Asn) rs777035367
NM_014141.5(CNTNAP2):c.3575C>T (p.Ala1192Val) rs796052384
NM_014141.5(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.5(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038
NM_014141.5(CNTNAP2):c.3607G>A (p.Val1203Ile) rs745397865
NM_014141.5(CNTNAP2):c.3653C>T (p.Pro1218Leu) rs758768018
NM_014141.5(CNTNAP2):c.3657_3669dup (p.Met1224Aspfs) rs770489662
NM_014141.5(CNTNAP2):c.3661C>G (p.Leu1221Val) rs765217559
NM_014141.5(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.5(CNTNAP2):c.3680C>T (p.Ala1227Val) rs1554427574
NM_014141.5(CNTNAP2):c.3697C>G (p.Leu1233Val) rs796052385
NM_014141.5(CNTNAP2):c.3709G>A (p.Asp1237Asn) rs796052386
NM_014141.5(CNTNAP2):c.3709delG (p.Asp1237Ilefs) rs730880275
NM_014141.5(CNTNAP2):c.3716-10_3716-7dupTTCT rs142426153
NM_014141.5(CNTNAP2):c.3716-6_3716-5insCG rs1554431652
NM_014141.5(CNTNAP2):c.3741A>C (p.Pro1247=) rs141772824
NM_014141.5(CNTNAP2):c.3742G>A (p.Gly1248Arg) rs1064794645
NM_014141.5(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.5(CNTNAP2):c.3781T>G (p.Ser1261Ala) rs754580386
NM_014141.5(CNTNAP2):c.3791T>C (p.Ile1264Thr) rs376316135
NM_014141.5(CNTNAP2):c.3796+4G>C rs886043777
NM_014141.5(CNTNAP2):c.37C>T (p.Leu13Phe) rs796052375
NM_014141.5(CNTNAP2):c.3833C>T (p.Thr1278Ile)
NM_014141.5(CNTNAP2):c.3857T>C (p.Met1286Thr) rs150167891
NM_014141.5(CNTNAP2):c.387A>G (p.Gln129=) rs150607716
NM_014141.5(CNTNAP2):c.3902C>T (p.Ala1301Val) rs776987592
NM_014141.5(CNTNAP2):c.3919G>A (p.Ala1307Thr) rs139234992
NM_014141.5(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702
NM_014141.5(CNTNAP2):c.3949A>T (p.Asn1317Tyr) rs796052387
NM_014141.5(CNTNAP2):c.3956_3957delCA (p.Thr1319Argfs) rs1554432792
NM_014141.5(CNTNAP2):c.3969T>G (p.Asp1323Glu) rs147968599
NM_014141.5(CNTNAP2):c.398T>C (p.Ile133Thr) rs935362211
NM_014141.5(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086
NM_014141.5(CNTNAP2):c.416A>G (p.Asn139Ser) rs370517200
NM_014141.5(CNTNAP2):c.436G>A (p.Val146Ile) rs781338949
NM_014141.5(CNTNAP2):c.440G>A (p.Arg147Gln) rs1064794785
NM_014141.5(CNTNAP2):c.479G>A (p.Arg160His) rs138738227
NM_014141.5(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320
NM_014141.5(CNTNAP2):c.48G>T (p.Trp16Cys) rs886044073
NM_014141.5(CNTNAP2):c.496T>C (p.Trp166Arg) rs796052389
NM_014141.5(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295
NM_014141.5(CNTNAP2):c.56G>C (p.Ser19Thr) rs1064794501
NM_014141.5(CNTNAP2):c.632T>C (p.Val211Ala) rs367652115
NM_014141.5(CNTNAP2):c.638C>T (p.Ala213Val)
NM_014141.5(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883
NM_014141.5(CNTNAP2):c.65T>C (p.Leu22Pro) rs768374052
NM_014141.5(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438
NM_014141.5(CNTNAP2):c.682G>A (p.Gly228Arg) rs371512835
NM_014141.5(CNTNAP2):c.700G>T (p.Asp234Tyr) rs867768148
NM_014141.5(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893
NM_014141.5(CNTNAP2):c.755-5C>T rs369675346
NM_014141.5(CNTNAP2):c.760A>G (p.Asn254Asp) rs1064796763
NM_014141.5(CNTNAP2):c.778_782delTATGGinsGGGA (p.Tyr260Glyfs) rs1554440668
NM_014141.5(CNTNAP2):c.847C>T (p.Arg283Cys) rs794727802
NM_014141.5(CNTNAP2):c.851delA (p.Gln284Argfs) rs796052388
NM_014141.5(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014141.5(CNTNAP2):c.913T>A (p.Phe305Ile) rs796052369
NM_014141.5(CNTNAP2):c.945C>G (p.Thr315=) rs794727872
NM_014141.5(CNTNAP2):c.963C>A (p.Phe321Leu) rs765211652
NM_014141.5(CNTNAP2):c.965C>T (p.Ser322Phe) rs139042086
NM_014141.5(CNTNAP2):c.97C>A (p.Gln33Lys) rs794726938
NM_014141.5(CNTNAP2):c.993G>T (p.Lys331Asn) rs1064793484
NM_014141.6(CNTNAP2):c.3922_3970dup (p.Glu1324Glyfs) rs757043221

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