ClinVar Miner

List of variants in gene PCDH19 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 305
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HGVS dbSNP
NC_000023.11:g.(?_100296257)_(100296895_?)del
NC_000023.11:g.(?_100296257)_(100342095_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)dup
NC_000023.11:g.(?_100402504)_(100402871_?)del
NC_000023.11:g.(?_100402504)_(100408617_?)del
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1002C>T (p.Val334=) rs945213958
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) rs796052810
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln) rs796052811
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr)
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro)
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His)
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs)
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) rs1569315006
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs)
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val)
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser)
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs)
NM_001184880.2(PCDH19):c.117T>A (p.Ile39=) rs750597794
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606
NM_001184880.2(PCDH19):c.1263_1264CA[1] (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=)
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg) rs1569314874
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter)
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) rs1602638463
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn)
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) rs777851773
NM_001184880.2(PCDH19):c.1362C>G (p.Ser454=) rs903487668
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys)
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs)
NM_001184880.2(PCDH19):c.1417_1418CT[1] (p.Ser474fs) rs1085307873
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1443C>T (p.Asp481=) rs1602636091
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=)
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs)
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) rs184770215
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys)
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val)
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1568A>C (p.His523Pro)
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=) rs370939779
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=) rs754032170
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=) rs1040413042
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs)
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs)
NM_001184880.2(PCDH19):c.164C>G (p.Pro55Arg)
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val) rs796052818
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser)
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser)
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) rs763745318
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys) rs763798306
NM_001184880.2(PCDH19):c.1745G>C (p.Gly582Ala)
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter) rs749662385
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn)
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del)
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=) rs1057521256
NM_001184880.2(PCDH19):c.1836C>T (p.Arg612=) rs756311067
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) rs1569314297
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu) rs1569314304
NM_001184880.2(PCDH19):c.1865G>T (p.Gly622Val)
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=) rs1282368557
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs)
NM_001184880.2(PCDH19):c.1920T>G (p.Leu640=) rs1602635297
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=) rs770353924
NM_001184880.2(PCDH19):c.2014A>G (p.Met672Val)
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter)
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter)
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met)
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu)
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu) rs1335592289
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2289-2A>G
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg) rs1036691760
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter)
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2358C>T (p.Ile786=) rs768467022
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125
NM_001184880.2(PCDH19):c.2381A>G (p.Glu794Gly)
NM_001184880.2(PCDH19):c.2387C>T (p.Thr796Ile)
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=) rs200756110
NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe)
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.2445C>T (p.Asp815=) rs1602632552
NM_001184880.2(PCDH19):c.244dup (p.Val82fs)
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs)
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly) rs773732791
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His) rs371323886
NM_001184880.2(PCDH19):c.2487G>C (p.Glu829Asp)
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg) rs1602632480
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser)
NM_001184880.2(PCDH19):c.2512C>G (p.Gln838Glu)
NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser)
NM_001184880.2(PCDH19):c.2522G>T (p.Arg841Leu)
NM_001184880.2(PCDH19):c.2549A>G (p.His850Arg)
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg)
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)
NM_001184880.2(PCDH19):c.2616+1G>A rs1602632270
NM_001184880.2(PCDH19):c.2617-1G>A rs1602600561
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys)
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) rs757949591
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln) rs1602600456
NM_001184880.2(PCDH19):c.2676-10T>G
NM_001184880.2(PCDH19):c.2676-6A>G rs1602595136
NM_001184880.2(PCDH19):c.2676-8C>A
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp)
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp)
NM_001184880.2(PCDH19):c.2781T>C (p.Cys927=) rs1555977733
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile) rs772106217
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.2(PCDH19):c.2855A>G (p.Asn952Ser)
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp)
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys) rs1602567417
NM_001184880.2(PCDH19):c.2895C>T (p.Gly965=) rs1602567395
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) rs371109150
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=) rs772345040
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro) rs1387075416
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=) rs745398684
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=) rs181719144
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=) rs376406896
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) rs796052793
NM_001184880.2(PCDH19):c.3117C>T (p.Val1039=) rs587781106
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) rs774986147
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=) rs767664406
NM_001184880.2(PCDH19):c.3228C>T (p.Pro1076=) rs759007349
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs) rs1602566823
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) rs745989871
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) rs777494666
NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=) rs753229559
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840
NM_001184880.2(PCDH19):c.3339C>G (p.Pro1113=) rs1230901546
NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser)
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His)
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro) rs770137596
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=) rs753986660
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) rs369647740
NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu)
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) rs1569284025
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu)
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup)
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) rs186554435
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu)
NM_001184880.2(PCDH19):c.344T>A (p.Ile115Lys)
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn) rs1214373921
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala)
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His)
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser)
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs)
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser) rs1602638047
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=) rs773244265
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter)
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn) rs1602637994
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly)
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys)
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs)
NM_001184880.2(PCDH19):c.476del (p.Gly159fs)
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser)
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del)
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter)
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.533del (p.Ile178fs)
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) rs1602637774
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.2(PCDH19):c.564C>T (p.Ala188=) rs1602637704
NM_001184880.2(PCDH19):c.564del (p.Glu189fs)
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val)
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) rs753757730
NM_001184880.2(PCDH19):c.573G>C (p.Val191=) rs766347338
NM_001184880.2(PCDH19):c.581del (p.Lys194fs)
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.594C>G (p.Arg198=) rs370348930
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) rs746274631
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.630G>A (p.Ala210=) rs781763211
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.2(PCDH19):c.652C>G (p.Arg218Gly)
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro)
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.659del (p.Gly220fs)
NM_001184880.2(PCDH19):c.670del (p.Ser225fs) rs1602637452
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter)
NM_001184880.2(PCDH19):c.684G>A (p.Val228=) rs201810406
NM_001184880.2(PCDH19):c.687del (p.Asp230fs)
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp)
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del)
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser)
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser) rs1602637358
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln) rs1602637340
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met) rs755403368
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs)
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val)
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001184880.2(PCDH19):c.894C>T (p.Val298=) rs1362026055
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile)
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=) rs1381662261
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156

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