ClinVar Miner

List of variants in gene PCDH19 studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1059
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927 0.00074
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773 0.00031
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=) rs776150934 0.00026
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744 0.00022
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606 0.00018
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937 0.00018
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=) rs376406896 0.00014
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363 0.00013
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718 0.00012
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369 0.00012
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=) rs181719144 0.00012
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=) rs199879056 0.00011
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496 0.00011
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606 0.00010
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728 0.00009
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729 0.00009
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) rs186554435 0.00009
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067 0.00009
NM_001184880.2(PCDH19):c.594C>G (p.Arg198=) rs370348930 0.00009
NM_001184880.2(PCDH19):c.1059T>C (p.Ser353=) rs1178813036 0.00008
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=) rs370939779 0.00008
NM_001184880.2(PCDH19):c.1218G>C (p.Leu406=) rs368465446 0.00007
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553 0.00007
NM_001184880.2(PCDH19):c.573G>C (p.Val191=) rs766347338 0.00007
NM_001184880.2(PCDH19):c.792T>C (p.Asp264=) rs373181586 0.00007
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met) rs779051005 0.00006
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653 0.00006
NM_001184880.2(PCDH19):c.2973C>T (p.Ile991=) rs769375997 0.00006
NM_001184880.2(PCDH19):c.3195C>A (p.Val1065=) rs781312992 0.00006
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=) rs368094294 0.00006
NM_001184880.2(PCDH19):c.591C>T (p.Asp197=) rs374554305 0.00006
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) rs746274631 0.00006
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=) rs372952752 0.00005
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) rs763745318 0.00005
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu) rs1325807867 0.00005
NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His) rs368872920 0.00005
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=) rs772345040 0.00005
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249 0.00005
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) rs777494666 0.00005
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840 0.00005
NM_001184880.2(PCDH19):c.34C>T (p.Leu12=) rs769164159 0.00005
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363 0.00005
NM_001184880.2(PCDH19):c.1246C>A (p.His416Asn) rs778618689 0.00004
NM_001184880.2(PCDH19):c.1684G>A (p.Val562Ile) rs755456420 0.00004
NM_001184880.2(PCDH19):c.1841T>G (p.Phe614Cys) rs759085956 0.00004
NM_001184880.2(PCDH19):c.2176G>A (p.Gly726Ser) rs771012472 0.00004
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) rs371109150 0.00004
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) rs369647740 0.00004
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295 0.00003
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935 0.00003
NM_001184880.2(PCDH19):c.2849-13T>C rs758872425 0.00003
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) rs774986147 0.00003
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=) rs753986660 0.00003
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser) rs371028786 0.00003
NM_001184880.2(PCDH19):c.51G>A (p.Thr17=) rs756958731 0.00003
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148 0.00003
NM_001184880.2(PCDH19):c.631C>T (p.Leu211=) rs771523465 0.00003
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met) rs755403368 0.00003
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) rs750813033 0.00003
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys) rs775309866 0.00003
NM_001184880.2(PCDH19):c.1200G>A (p.Glu400=) rs759132569 0.00002
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala) rs746891808 0.00002
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) rs777851773 0.00002
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met) rs200637767 0.00002
NM_001184880.2(PCDH19):c.1552C>T (p.Leu518=) rs1197941611 0.00002
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val) rs796052818 0.00002
NM_001184880.2(PCDH19):c.1752C>T (p.Gly584=) rs1240901255 0.00002
NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His) rs373996202 0.00002
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823 0.00002
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966 0.00002
NM_001184880.2(PCDH19):c.2798A>G (p.Asp933Gly) rs369379155 0.00002
NM_001184880.2(PCDH19):c.2820C>G (p.Thr940=) rs375040933 0.00002
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp) rs1309638639 0.00002
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys) rs1602567417 0.00002
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=) rs745398684 0.00002
NM_001184880.2(PCDH19):c.3045C>T (p.Phe1015=) rs746702101 0.00002
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010 0.00002
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403 0.00002
NM_001184880.2(PCDH19):c.3183G>A (p.Ala1061=) rs746084690 0.00002
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=) rs767664406 0.00002
NM_001184880.2(PCDH19):c.3228C>T (p.Pro1076=) rs759007349 0.00002
NM_001184880.2(PCDH19):c.3259C>T (p.Leu1087=) rs373432764 0.00002
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys) rs375132545 0.00002
NM_001184880.2(PCDH19):c.390G>A (p.Pro130=) rs775408951 0.00002
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=) rs773244265 0.00002
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) rs794726899 0.00002
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) rs753757730 0.00002
NM_001184880.2(PCDH19):c.593G>A (p.Arg198His) rs772837341 0.00002
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964 0.00002
NM_001184880.2(PCDH19):c.768C>T (p.Pro256=) rs761277974 0.00002
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=) rs369638371 0.00002
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His) rs749526030 0.00002
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=) rs779759129 0.00002
NM_001184880.2(PCDH19):c.894C>T (p.Val298=) rs1362026055 0.00002
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=) rs1381662261 0.00002
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338 0.00002
NM_001184880.2(PCDH19):c.1032G>C (p.Pro344=) rs1429555639 0.00001
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr) rs755904886 0.00001
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954 0.00001
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) rs1318908420 0.00001
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359 0.00001
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser) rs1413596219 0.00001
NM_001184880.2(PCDH19):c.1177C>T (p.Pro393Ser) rs775774922 0.00001
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=) rs1602636492 0.00001
NM_001184880.2(PCDH19):c.1362C>G (p.Ser454=) rs903487668 0.00001
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr) rs778219829 0.00001
NM_001184880.2(PCDH19):c.1417C>T (p.Leu473Phe) rs751977016 0.00001
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077 0.00001
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045 0.00001
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) rs184770215 0.00001
NM_001184880.2(PCDH19):c.1506C>T (p.Val502=) rs1301308123 0.00001
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr) rs778072039 0.00001
NM_001184880.2(PCDH19):c.1569C>T (p.His523=) rs753119035 0.00001
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=) rs754032170 0.00001
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=) rs1040413042 0.00001
NM_001184880.2(PCDH19):c.1662C>T (p.Leu554=) rs758658173 0.00001
NM_001184880.2(PCDH19):c.1722G>C (p.Glu574Asp) rs767824461 0.00001
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys) rs763798306 0.00001
NM_001184880.2(PCDH19):c.1745G>C (p.Gly582Ala) rs1029866851 0.00001
NM_001184880.2(PCDH19):c.177A>T (p.Ser59=) rs1466130318 0.00001
NM_001184880.2(PCDH19):c.1831G>C (p.Asp611His) rs1361535008 0.00001
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=) rs1282368557 0.00001
NM_001184880.2(PCDH19):c.1881C>T (p.Thr627=) rs1368009329 0.00001
NM_001184880.2(PCDH19):c.1941C>T (p.His647=) rs765223789 0.00001
NM_001184880.2(PCDH19):c.1956C>G (p.Leu652=) rs1928356628 0.00001
NM_001184880.2(PCDH19):c.1962C>G (p.Ala654=) rs759032566 0.00001
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=) rs770353924 0.00001
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser) rs1928354837 0.00001
NM_001184880.2(PCDH19):c.2014A>G (p.Met672Val) rs749714492 0.00001
NM_001184880.2(PCDH19):c.201G>A (p.Ser67=) rs202078154 0.00001
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524 0.00001
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu) rs1382149285 0.00001
NM_001184880.2(PCDH19):c.2223G>A (p.Ser741=) rs907375983 0.00001
NM_001184880.2(PCDH19):c.2619T>A (p.Thr873=) rs2098901532 0.00001
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys) rs1285138683 0.00001
NM_001184880.2(PCDH19):c.2647G>A (p.Val883Met) rs746945279 0.00001
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) rs757949591 0.00001
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val) rs778668005 0.00001
NM_001184880.2(PCDH19):c.2672A>G (p.Lys891Arg) rs1602600451 0.00001
NM_001184880.2(PCDH19):c.2676-10T>G rs1469998949 0.00001
NM_001184880.2(PCDH19):c.2676-8C>T rs1174620986 0.00001
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914 0.00001
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp) rs752763816 0.00001
NM_001184880.2(PCDH19):c.2786C>T (p.Thr929Ile) rs370150093 0.00001
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile) rs772106217 0.00001
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080 0.00001
NM_001184880.2(PCDH19):c.2855A>G (p.Asn952Ser) rs983140182 0.00001
NM_001184880.2(PCDH19):c.2907G>A (p.Arg969=) rs766776515 0.00001
NM_001184880.2(PCDH19):c.292A>C (p.Lys98Gln) rs372702479 0.00001
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe) rs796052838 0.00001
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro) rs1387075416 0.00001
NM_001184880.2(PCDH19):c.3024C>T (p.Cys1008=) rs1266028176 0.00001
NM_001184880.2(PCDH19):c.3033C>G (p.Thr1011=) rs1355245225 0.00001
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=) rs886043091 0.00001
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171 0.00001
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) rs796052793 0.00001
NM_001184880.2(PCDH19):c.3117C>T (p.Val1039=) rs587781106 0.00001
NM_001184880.2(PCDH19):c.3151G>A (p.Val1051Ile) rs1452527533 0.00001
NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln) rs1241637351 0.00001
NM_001184880.2(PCDH19):c.3191C>T (p.Pro1064Leu) rs1285095488 0.00001
NM_001184880.2(PCDH19):c.3213C>G (p.Leu1071=) rs1402645764 0.00001
NM_001184880.2(PCDH19):c.3226C>T (p.Pro1076Ser) rs764781288 0.00001
NM_001184880.2(PCDH19):c.3241G>A (p.Val1081Met) rs774791898 0.00001
NM_001184880.2(PCDH19):c.3265C>A (p.Pro1089Thr) rs769890364 0.00001
NM_001184880.2(PCDH19):c.3306C>T (p.Asn1102=) rs1924606179 0.00001
NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=) rs753229559 0.00001
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His) rs770137596 0.00001
NM_001184880.2(PCDH19):c.3351T>C (p.Asp1117=) rs587781107 0.00001
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly) rs1057520343 0.00001
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203 0.00001
NM_001184880.2(PCDH19):c.3393A>G (p.Glu1131=) rs1448795169 0.00001
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His) rs771849535 0.00001
NM_001184880.2(PCDH19):c.405G>A (p.Glu135=) rs1167814430 0.00001
NM_001184880.2(PCDH19):c.456C>T (p.Ser152=) rs760286079 0.00001
NM_001184880.2(PCDH19):c.505A>T (p.Thr169Ser) rs1413443418 0.00001
NM_001184880.2(PCDH19):c.544G>C (p.Gly182Arg) rs777840773 0.00001
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282 0.00001
NM_001184880.2(PCDH19):c.630G>A (p.Ala210=) rs781763211 0.00001
NM_001184880.2(PCDH19):c.639T>C (p.Gly213=) rs1349440230 0.00001
NM_001184880.2(PCDH19):c.652C>G (p.Arg218Gly) rs1339944196 0.00001
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001184880.2(PCDH19):c.705C>T (p.Asn235=) rs750043738 0.00001
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln) rs796052808 0.00001
NM_001184880.2(PCDH19):c.722C>A (p.Ser241Tyr) rs1004810913 0.00001
NM_001184880.2(PCDH19):c.729C>T (p.Tyr243=) rs1166554052 0.00001
NM_001184880.2(PCDH19):c.741G>T (p.Val247=) rs1057521743 0.00001
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342 0.00001
NM_001184880.2(PCDH19):c.807C>A (p.Thr269=) rs1467272137 0.00001
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) rs772171727 0.00001
NM_001184880.2(PCDH19):c.889C>T (p.Leu297=) rs1489598292 0.00001
NM_001184880.2(PCDH19):c.896C>T (p.Thr299Ile) rs866113078 0.00001
NM_001184880.2(PCDH19):c.948G>T (p.Val316=) rs371533263 0.00001
NC_000023.10:g.(?_99551275)_(99551893_?)dup
NC_000023.10:g.(?_99551275)_(99605722_?)del
NC_000023.10:g.(?_99596881)_(99597093_?)del
NC_000023.10:g.(?_99596881)_(99597093_?)dup
NC_000023.10:g.(?_99596881)_(99663595_?)del
NC_000023.10:g.(?_99596881)_(99663595_?)dup
NC_000023.10:g.(?_99596891)_(99597083_?)del
NC_000023.10:g.(?_99605624)_(99605722_?)del
NC_000023.10:g.(?_99640151)_(99663517_?)del
NC_000023.10:g.(?_99654182)_(99661939_?)del
NC_000023.10:g.(?_99657502)_(99663595_?)dup
NC_000023.10:g.(?_99657775)_(99662816_?)del
NC_000023.10:g.(?_99661873)_(99700255_?)del
NC_000023.11:g.(?_100296257)_(100296895_?)del
NC_000023.11:g.(?_100296257)_(100342095_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)dup
NC_000023.11:g.(?_100402504)_(100402871_?)del
NC_000023.11:g.(?_100402504)_(100408617_?)del
NM_001184880.2(PCDH19):c.1000G>C (p.Val334Leu)
NM_001184880.2(PCDH19):c.1001_1007del (p.Val334fs)
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.1006G>A (p.Val336Met)
NM_001184880.2(PCDH19):c.1012G>T (p.Asp338Tyr) rs2147539946
NM_001184880.2(PCDH19):c.1014C>T (p.Asp338=)
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr) rs796052839
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1022A>G (p.Asp341Gly) rs2147539926
NM_001184880.2(PCDH19):c.1029G>T (p.Pro343=)
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln) rs796052811
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val) rs1928413482
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs) rs2147539848
NM_001184880.2(PCDH19):c.1037T>C (p.Ile346Thr)
NM_001184880.2(PCDH19):c.103G>C (p.Ala35Pro) rs2147542686
NM_001184880.2(PCDH19):c.1041C>T (p.Asn347=) rs1182490407
NM_001184880.2(PCDH19):c.1045C>T (p.Leu349=)
NM_001184880.2(PCDH19):c.1056C>T (p.Asn352=) rs2147539781
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1060G>C (p.Glu354Gln)
NM_001184880.2(PCDH19):c.1069G>A (p.Glu357Lys)
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln) rs868697675
NM_001184880.2(PCDH19):c.1069G>T (p.Glu357Ter)
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=)
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)
NM_001184880.2(PCDH19):c.1080G>C (p.Glu360Asp) rs2147539716
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=)
NM_001184880.2(PCDH19):c.1085C>T (p.Ala362Val) rs776497186
NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr)
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala)
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1095C>T (p.Gly365=) rs926688509
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys) rs1928409253
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1101G>A (p.Val367=)
NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1110G>A (p.Leu370=)
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1116G>A (p.Arg372=)
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) rs2147539591
NM_001184880.2(PCDH19):c.1120T>A (p.Ser374Thr) rs1928407939
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro) rs1928407939
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn) rs1928407580
NM_001184880.2(PCDH19):c.1126C>G (p.Arg376Gly)
NM_001184880.2(PCDH19):c.1128C>G (p.Arg376=)
NM_001184880.2(PCDH19):c.1129G>A (p.Asp377Asn)
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His) rs1928407149
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.1134_1137dup (p.Leu380fs)
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs) rs1928406047
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) rs1569315006
NM_001184880.2(PCDH19):c.1151T>G (p.Val384Gly)
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs) rs1928405402
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) rs1928405180
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter) rs1928405180
NM_001184880.2(PCDH19):c.1155del (p.Gln385fs)
NM_001184880.2(PCDH19):c.115A>C (p.Ile39Leu)
NM_001184880.2(PCDH19):c.1164G>A (p.Leu388=)
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val) rs1928404497
NM_001184880.2(PCDH19):c.1165C>T (p.Leu389=)
NM_001184880.2(PCDH19):c.1170del (p.Asn391fs)
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1176G>T (p.Val392=) rs1602636583
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
NM_001184880.2(PCDH19):c.117_142dup (p.Glu48fs)
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.1188G>T (p.Leu396=)
NM_001184880.2(PCDH19):c.1189C>T (p.Gln397Ter) rs2147539395
NM_001184880.2(PCDH19):c.1191G>A (p.Gln397=)
NM_001184880.2(PCDH19):c.1192G>T (p.Glu398Ter) rs2147539378
NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer)
NM_001184880.2(PCDH19):c.1197T>G (p.Tyr399Ter) rs2147539361
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile) rs2147539327
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg) rs1928402131
NM_001184880.2(PCDH19):c.122A>G (p.Asn41Ser) rs2147542647
NM_001184880.2(PCDH19):c.1232T>A (p.Leu411Gln)
NM_001184880.2(PCDH19):c.1238G>C (p.Arg413Pro) rs2147539292
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys) rs796052813
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
NM_001184880.2(PCDH19):c.1241A>G (p.Glu414Gly)
NM_001184880.2(PCDH19):c.124G>A (p.Val42Met) rs767840869
NM_001184880.2(PCDH19):c.1250A>T (p.Asp417Val) rs2147539257
NM_001184880.2(PCDH19):c.1252C>A (p.Gln418Lys)
NM_001184880.2(PCDH19):c.1252C>G (p.Gln418Glu)
NM_001184880.2(PCDH19):c.1252C>T (p.Gln418Ter)
NM_001184880.2(PCDH19):c.1256_1268del (p.Tyr419fs)
NM_001184880.2(PCDH19):c.1260C>T (p.Asn420=)
NM_001184880.2(PCDH19):c.1263C>T (p.Leu421=)
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1276C>T (p.Arg426Cys) rs1928399359
NM_001184880.2(PCDH19):c.1279G>A (p.Asp427Asn)
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.1284C>A (p.Gly428=)
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg) rs1569314874
NM_001184880.2(PCDH19):c.1296G>A (p.Met432Ile)
NM_001184880.2(PCDH19):c.1297C>A (p.Leu433Met) rs764650219
NM_001184880.2(PCDH19):c.12C>T (p.Leu4=) rs1272402084
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter) rs1928398128
NM_001184880.2(PCDH19):c.1303_1304del (p.Ser435fs)
NM_001184880.2(PCDH19):c.1305del (p.Ser435fs)
NM_001184880.2(PCDH19):c.1313C>A (p.Ser438Tyr)
NM_001184880.2(PCDH19):c.1319C>T (p.Thr440Ile)
NM_001184880.2(PCDH19):c.1321G>T (p.Val441Leu)
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) rs1602638463
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1339A>G (p.Asn447Asp) rs2147539047
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn) rs1569314809
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly) rs1928395285
NM_001184880.2(PCDH19):c.1347C>T (p.Asn449=)
NM_001184880.2(PCDH19):c.1349A>C (p.His450Pro) rs2147539030
NM_001184880.2(PCDH19):c.1349_1355del (p.His450fs)
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.1351C>A (p.Pro451Thr)
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu)
NM_001184880.2(PCDH19):c.1353G>T (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1353del (p.His452fs) rs2147539018
NM_001184880.2(PCDH19):c.1356C>G (p.His452Gln)
NM_001184880.2(PCDH19):c.1360_1361delinsAA (p.Ser454Asn) rs2147538982
NM_001184880.2(PCDH19):c.1364A>G (p.Lys455Arg)
NM_001184880.2(PCDH19):c.1366C>T (p.Pro456Ser)
NM_001184880.2(PCDH19):c.136G>A (p.Ala46Thr)
NM_001184880.2(PCDH19):c.1371C>T (p.Tyr457=)
NM_001184880.2(PCDH19):c.1372T>A (p.Tyr458Asn)
NM_001184880.2(PCDH19):c.1372dup (p.Tyr458fs) rs2147538939
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys) rs1928392499
NM_001184880.2(PCDH19):c.1375C>T (p.Gln459Ter) rs2147538918
NM_001184880.2(PCDH19):c.1375del (p.Gln459fs)
NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG (p.Gln459_Val460insCysTer) rs2147538910
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1390G>C (p.Glu464Gln)
NM_001184880.2(PCDH19):c.13C>T (p.Leu5=)
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.2(PCDH19):c.140G>T (p.Arg47Leu)
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs) rs1928388987
NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys)
NM_001184880.2(PCDH19):c.1416_1420del (p.Leu473fs) rs2147538807
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs) rs1085307873
NM_001184880.2(PCDH19):c.1421_1422del (p.Ser474fs)
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs) rs2147538796
NM_001184880.2(PCDH19):c.1427C>T (p.Ser476Phe)
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1430C>A (p.Ala477Asp)
NM_001184880.2(PCDH19):c.1430C>T (p.Ala477Val)
NM_001184880.2(PCDH19):c.1432C>T (p.Arg478Cys)
NM_001184880.2(PCDH19):c.1438C>T (p.Pro480Ser) rs201320371
NM_001184880.2(PCDH19):c.1440C>T (p.Pro480=) rs1928386353
NM_001184880.2(PCDH19):c.1440del (p.Asp481fs) rs2147538759
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) rs1602636096
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1443C>G (p.Asp481Glu) rs1602636091
NM_001184880.2(PCDH19):c.1443C>T (p.Asp481=) rs1602636091
NM_001184880.2(PCDH19):c.1444C>G (p.Leu482Val)
NM_001184880.2(PCDH19):c.1446G>T (p.Leu482=)
NM_001184880.2(PCDH19):c.1455C>T (p.Asn485=) rs2147538708
NM_001184880.2(PCDH19):c.1456G>C (p.Gly486Arg)
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=) rs1602636047
NM_001184880.2(PCDH19):c.145G>A (p.Ala49Thr)
NM_001184880.2(PCDH19):c.1461del (p.Ser487fs)
NM_001184880.2(PCDH19):c.1468T>G (p.Tyr490Asp)
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) rs1555985142
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs) rs1928383528
NM_001184880.2(PCDH19):c.1481C>G (p.Pro494Arg)
NM_001184880.2(PCDH19):c.1481C>T (p.Pro494Leu)
NM_001184880.2(PCDH19):c.1483T>C (p.Ser495Pro) rs2147538640
NM_001184880.2(PCDH19):c.1485G>T (p.Ser495=)
NM_001184880.2(PCDH19):c.1488G>C (p.Gln496His) rs2147538625
NM_001184880.2(PCDH19):c.1492C>T (p.Arg498Trp)
NM_001184880.2(PCDH19):c.1493G>A (p.Arg498Gln)
NM_001184880.2(PCDH19):c.1500del (p.Met500fs)
NM_001184880.2(PCDH19):c.1500dup (p.Pro501fs) rs2147538605
NM_001184880.2(PCDH19):c.150dup (p.Phe51fs)
NM_001184880.2(PCDH19):c.1512C>T (p.Thr504=)
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys) rs1928382143
NM_001184880.2(PCDH19):c.1518C>A (p.Val506=)
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser) rs1928381502
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) rs779665170
NM_001184880.2(PCDH19):c.1536A>T (p.Ser512=)
NM_001184880.2(PCDH19):c.1538G>A (p.Gly513Asp) rs1928380918
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val) rs1928380918
NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro)
NM_001184880.2(PCDH19):c.1551G>C (p.Ala517=)
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1556del (p.Arg519fs) rs2147538465
NM_001184880.2(PCDH19):c.155C>T (p.Ala52Val) rs2147542586
NM_001184880.2(PCDH19):c.1568A>C (p.His523Pro) rs1928379105
NM_001184880.2(PCDH19):c.1569C>A (p.His523Gln)
NM_001184880.2(PCDH19):c.1579_2057delinsTCTCTGC (p.Lys527fs)
NM_001184880.2(PCDH19):c.1581G>A (p.Lys527=)
NM_001184880.2(PCDH19):c.1581G>C (p.Lys527Asn)
NM_001184880.2(PCDH19):c.158dup (p.Asp54fs)
NM_001184880.2(PCDH19):c.1601T>C (p.Leu534Pro)
NM_001184880.2(PCDH19):c.1609G>A (p.Asp537Asn)
NM_001184880.2(PCDH19):c.1611C>A (p.Asp537Glu) rs766582540
NM_001184880.2(PCDH19):c.1613G>A (p.Gly538Asp)
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.1620T>C (p.Leu540=)
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.1628T>C (p.Leu543Pro)
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) rs1928375454
NM_001184880.2(PCDH19):c.1639_1640delinsTT (p.Ala547Phe) rs1928375319
NM_001184880.2(PCDH19):c.163C>T (p.Pro55Ser)
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs) rs1928375176
NM_001184880.2(PCDH19):c.1641T>C (p.Ala547=) rs2147538281
NM_001184880.2(PCDH19):c.1642A>G (p.Thr548Ala)
NM_001184880.2(PCDH19):c.1643C>T (p.Thr548Met) rs761718877
NM_001184880.2(PCDH19):c.1644G>C (p.Thr548=)
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs) rs1928374520
NM_001184880.2(PCDH19):c.1649G>A (p.Arg550Gln)
NM_001184880.2(PCDH19):c.164C>G (p.Pro55Arg) rs1928476240
NM_001184880.2(PCDH19):c.1652T>A (p.Val551Asp) rs1928373723
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala) rs1928373723
NM_001184880.2(PCDH19):c.1653C>T (p.Val551=)
NM_001184880.2(PCDH19):c.1656C>T (p.Ile552=) rs779051005
NM_001184880.2(PCDH19):c.1659C>T (p.Ile553=)
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.2(PCDH19):c.1660C>T (p.Leu554Phe)
NM_001184880.2(PCDH19):c.1662C>G (p.Leu554=)
NM_001184880.2(PCDH19):c.1667T>C (p.Val556Ala)
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly)
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser) rs1928372472
NM_001184880.2(PCDH19):c.1671C>A (p.Asn557Lys)
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs) rs2147538169
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His) rs748611349
NM_001184880.2(PCDH19):c.1675A>G (p.Asn559Asp) rs2147538146
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.167G>A (p.Arg56Gln) rs1928475827
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser) rs1569314471
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu) rs796052819
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) rs1602635656
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr)
NM_001184880.2(PCDH19):c.1696C>G (p.Pro566Ala) rs1928370474
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser) rs1928370474
NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter) rs1367823627
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1702C>T (p.Leu568=)
NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter)
NM_001184880.2(PCDH19):c.1710C>T (p.Asn570=)
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs) rs1928369132
NM_001184880.2(PCDH19):c.1715del (p.Thr572fs)
NM_001184880.2(PCDH19):c.1716T>A (p.Thr572=)
NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly)
NM_001184880.2(PCDH19):c.1719C>G (p.Ala573=)
NM_001184880.2(PCDH19):c.1719C>T (p.Ala573=)
NM_001184880.2(PCDH19):c.1722G>A (p.Glu574=) rs767824461
NM_001184880.2(PCDH19):c.1727A>G (p.Tyr576Cys)
NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter)
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser) rs951696281
NM_001184880.2(PCDH19):c.1737C>A (p.Arg579=)
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter) rs749662385
NM_001184880.2(PCDH19):c.1755C>T (p.Tyr585=)
NM_001184880.2(PCDH19):c.1757T>C (p.Leu586Pro)
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro) rs2147537859
NM_001184880.2(PCDH19):c.1765_1766del (p.Val589fs) rs2147537854
NM_001184880.2(PCDH19):c.1776A>T (p.Ala592=) rs2147537845
NM_001184880.2(PCDH19):c.177A>C (p.Ser59=) rs1466130318
NM_001184880.2(PCDH19):c.1785C>A (p.Tyr595Ter)
NM_001184880.2(PCDH19):c.1785C>T (p.Tyr595=)
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn) rs1928365978
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr) rs1928365978
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1792G>A (p.Gly598Ser)
NM_001184880.2(PCDH19):c.1793dup (p.Glu599fs)
NM_001184880.2(PCDH19):c.1803C>T (p.Gly601=)
NM_001184880.2(PCDH19):c.1804C>A (p.Arg602=)
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.1804del (p.Arg602fs)
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del) rs1928365074
NM_001184880.2(PCDH19):c.1810A>G (p.Thr604Ala) rs1928365372
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.1816G>A (p.Asp606Asn) rs1928364873
NM_001184880.2(PCDH19):c.1816G>T (p.Asp606Tyr) rs1928364873
NM_001184880.2(PCDH19):c.1817A>G (p.Asp606Gly) rs2147537779
NM_001184880.2(PCDH19):c.1823C>T (p.Thr608Ile)
NM_001184880.2(PCDH19):c.1836C>T (p.Arg612=) rs756311067
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
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.1855C>T (p.Gln619Ter) rs796052820
NM_001184880.2(PCDH19):c.1859T>C (p.Val620Ala)
NM_001184880.2(PCDH19):c.1862A>G (p.Asn621Ser)
NM_001184880.2(PCDH19):c.1865G>T (p.Gly622Val) rs1928362026
NM_001184880.2(PCDH19):c.1867G>T (p.Glu623Ter)
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly) rs796052822
NM_001184880.2(PCDH19):c.1887C>T (p.Thr629=)
NM_001184880.2(PCDH19):c.1890C>T (p.Phe630=) rs796052791
NM_001184880.2(PCDH19):c.1891G>C (p.Gly631Arg)
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp) rs750599959
NM_001184880.2(PCDH19):c.1894G>T (p.Glu632Ter)
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs) rs1928359639
NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg)
NM_001184880.2(PCDH19):c.1911C>T (p.Ser637=)
NM_001184880.2(PCDH19):c.1914T>G (p.Tyr638Ter)
NM_001184880.2(PCDH19):c.1917G>A (p.Glu639=)
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro) rs1928358562
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg) rs1928358562
NM_001184880.2(PCDH19):c.1920T>G (p.Leu640=) rs1602635297
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met) rs1221643775
NM_001184880.2(PCDH19):c.1924G>T (p.Val642Leu)
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) rs1602635282
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His)
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) rs1602635261
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser)
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs) rs796052835
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro) rs1928356260
NM_001184880.2(PCDH19):c.1968T>C (p.Ala656=)
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.1971C>T (p.Leu657=)
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs) rs1928355133
NM_001184880.2(PCDH19):c.1974C>G (p.Val658=)
NM_001184880.2(PCDH19):c.1975C>T (p.Leu659=)
NM_001184880.2(PCDH19):c.197A>G (p.Asn66Ser)
NM_001184880.2(PCDH19):c.1985_1995del (p.Leu662fs) rs2147537315
NM_001184880.2(PCDH19):c.1988C>T (p.Ser663Phe) rs2147537323
NM_001184880.2(PCDH19):c.1992T>G (p.Pro664=)
NM_001184880.2(PCDH19):c.1993_1994delinsAA (p.Ala665Asn)
NM_001184880.2(PCDH19):c.1995T>C (p.Ala665=)
NM_001184880.2(PCDH19):c.1996C>G (p.Leu666Val) rs2147537309
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs)
NM_001184880.2(PCDH19):c.200C>A (p.Ser67Ter) rs868762744
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp) rs868762744
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter)
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2021C>T (p.Ser674Phe)
NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met)
NM_001184880.2(PCDH19):c.2025G>A (p.Val675=) rs2147537254
NM_001184880.2(PCDH19):c.2029T>C (p.Leu677=) rs2147537247
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2030T>C (p.Leu677Ser)
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.2034C>T (p.Ser678=)
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.2(PCDH19):c.203C>T (p.Ala68Val) rs1928473737
NM_001184880.2(PCDH19):c.2046T>G (p.Ile682Met)
NM_001184880.2(PCDH19):c.2052C>G (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser)
NM_001184880.2(PCDH19):c.2063T>C (p.Ile688Thr) rs2147537200
NM_001184880.2(PCDH19):c.2068G>C (p.Gly690Arg)
NM_001184880.2(PCDH19):c.2069del (p.Gly690fs)
NM_001184880.2(PCDH19):c.2082A>T (p.Val694=)
NM_001184880.2(PCDH19):c.20C>G (p.Pro7Arg)
NM_001184880.2(PCDH19):c.210C>T (p.His70=)
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter) rs1928350631
NM_001184880.2(PCDH19):c.2119A>G (p.Asn707Asp)
NM_001184880.2(PCDH19):c.211C>A (p.Leu71Ile)
NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)
NM_001184880.2(PCDH19):c.2136C>T (p.Thr712=) rs950694232
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter) rs1928349391
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001184880.2(PCDH19):c.2147+12T>C
NM_001184880.2(PCDH19):c.2147+18T>C
NM_001184880.2(PCDH19):c.2147+1G>T rs1555984947
NM_001184880.2(PCDH19):c.2148-12del
NM_001184880.2(PCDH19):c.2148-18C>T
NM_001184880.2(PCDH19):c.2148-8C>T
NM_001184880.2(PCDH19):c.215T>G (p.Val72Gly)
NM_001184880.2(PCDH19):c.2175C>T (p.Leu725=) rs777049971
NM_001184880.2(PCDH19):c.2181T>C (p.Cys727=) rs2147534431
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met) rs1928262563
NM_001184880.2(PCDH19):c.218A>G (p.Asp73Gly)
NM_001184880.2(PCDH19):c.2195A>G (p.Gln732Arg)
NM_001184880.2(PCDH19):c.21G>A (p.Pro7=)
NM_001184880.2(PCDH19):c.21G>C (p.Pro7=) rs1345525424
NM_001184880.2(PCDH19):c.2202C>T (p.Ser734=)
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu)
NM_001184880.2(PCDH19):c.2221_2222delinsCT (p.Ser741Leu)
NM_001184880.2(PCDH19):c.2222C>G (p.Ser741Trp)
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu) rs1335592289
NM_001184880.2(PCDH19):c.226C>T (p.Pro76Ser)
NM_001184880.2(PCDH19):c.231C>T (p.Ser77=) rs2147542388
NM_001184880.2(PCDH19):c.234T>C (p.Ser78=)
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.244dup (p.Val82fs) rs1928471120
NM_001184880.2(PCDH19):c.249C>G (p.Thr83=)
NM_001184880.2(PCDH19):c.252del (p.Lys84fs)
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg) rs1928470713
NM_001184880.2(PCDH19):c.2561_2563dup (p.Asn854_Ser855insAsn)
NM_001184880.2(PCDH19):c.256A>T (p.Lys86Ter)
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) rs1602638228
NM_001184880.2(PCDH19):c.2617-19T>A
NM_001184880.2(PCDH19):c.2617-19T>C
NM_001184880.2(PCDH19):c.2617-1G>A rs1602600561
NM_001184880.2(PCDH19):c.2619del (p.Glu874fs) rs2147492697
NM_001184880.2(PCDH19):c.2620G>T (p.Glu874Ter)
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2640dup (p.Asn881fs)
NM_001184880.2(PCDH19):c.2646C>A (p.Tyr882Ter)
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter) rs770935301
NM_001184880.2(PCDH19):c.2646C>T (p.Tyr882=)
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2659G>A (p.Ala887Thr) rs747735300
NM_001184880.2(PCDH19):c.2662dup (p.His888fs) rs2147492627
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln) rs1602600456
NM_001184880.2(PCDH19):c.2675+1G>C
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001184880.2(PCDH19):c.2675+2T>C
NM_001184880.2(PCDH19):c.2675+5G>C
NM_001184880.2(PCDH19):c.2675+7T>C rs1926541351
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn) rs1602600445
NM_001184880.2(PCDH19):c.2676-11C>T
NM_001184880.2(PCDH19):c.2676-15C>T
NM_001184880.2(PCDH19):c.2676-17T>C
NM_001184880.2(PCDH19):c.2676-6A>G rs1602595136
NM_001184880.2(PCDH19):c.2676-8C>A rs1174620986
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=) rs754570811
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly) rs2147542320
NM_001184880.2(PCDH19):c.2705A>G (p.Asn902Ser)
NM_001184880.2(PCDH19):c.2714A>G (p.Lys905Arg)
NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg)
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter) rs2147485081
NM_001184880.2(PCDH19):c.2730G>C (p.Glu910Asp)
NM_001184880.2(PCDH19):c.2733G>T (p.Glu911Asp)
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter) rs1926264984
NM_001184880.2(PCDH19):c.274C>T (p.Leu92=)
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs) rs2147542293
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp) rs1926264482
NM_001184880.2(PCDH19):c.2761G>A (p.Val921Ile)
NM_001184880.2(PCDH19):c.2764C>T (p.Gln922Ter) rs2147485040
NM_001184880.2(PCDH19):c.2766G>A (p.Gln922=)
NM_001184880.2(PCDH19):c.2768G>A (p.Arg923Gln)
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser) rs1926262402
NM_001184880.2(PCDH19):c.27G>A (p.Leu9=)
NM_001184880.2(PCDH19):c.2823C>T (p.Ser941=)
NM_001184880.2(PCDH19):c.2825T>C (p.Met942Thr)
NM_001184880.2(PCDH19):c.2833C>T (p.Gln945Ter) rs2147484924
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) rs1064793304
NM_001184880.2(PCDH19):c.2837T>C (p.Met946Thr)
NM_001184880.2(PCDH19):c.2846A>C (p.His949Pro) rs1200510047
NM_001184880.2(PCDH19):c.2848+18G>T
NM_001184880.2(PCDH19):c.2848+1G>A
NM_001184880.2(PCDH19):c.2848+7A>G
NM_001184880.2(PCDH19):c.2849-8C>G
NM_001184880.2(PCDH19):c.2885G>A (p.Arg962Gln)
NM_001184880.2(PCDH19):c.2893G>C (p.Gly965Arg)
NM_001184880.2(PCDH19):c.2901dup (p.Asp968Ter)
NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu)
NM_001184880.2(PCDH19):c.291dup (p.Lys98fs) rs2147542264
NM_001184880.2(PCDH19):c.2920C>T (p.Arg974Trp)
NM_001184880.2(PCDH19):c.2921G>A (p.Arg974Gln)
NM_001184880.2(PCDH19):c.2929A>G (p.Met977Val) rs2147446474
NM_001184880.2(PCDH19):c.2933C>G (p.Pro978Arg)
NM_001184880.2(PCDH19):c.2952T>C (p.Pro984=)
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr) rs2147542235
NM_001184880.2(PCDH19):c.2974G>A (p.Ala992Thr)
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs)
NM_001184880.2(PCDH19):c.2979G>C (p.Leu993=)
NM_001184880.2(PCDH19):c.2983A>G (p.Ile995Val) rs1413490920
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del) rs796052825
NM_001184880.2(PCDH19):c.2993C>T (p.Thr998Ile)
NM_001184880.2(PCDH19):c.3001G>A (p.Asp1001Asn)
NM_001184880.2(PCDH19):c.3002A>G (p.Asp1001Gly) rs1924624840
NM_001184880.2(PCDH19):c.3002A>T (p.Asp1001Val)
NM_001184880.2(PCDH19):c.3007G>A (p.Glu1003Lys)
NM_001184880.2(PCDH19):c.3009G>A (p.Glu1003=)
NM_001184880.2(PCDH19):c.300_301del (p.Ile101fs) rs2147542217
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3019G>A (p.Asp1007Asn)
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.3020A>C (p.Asp1007Ala)
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3025G>A (p.Gly1009Ser) rs2147446230
NM_001184880.2(PCDH19):c.3028C>T (p.Pro1010Ser)
NM_001184880.2(PCDH19):c.3037C>T (p.Arg1013Trp) rs376406896
NM_001184880.2(PCDH19):c.3044dup (p.Ala1016fs)
NM_001184880.2(PCDH19):c.3046G>A (p.Ala1016Thr) rs1327141854
NM_001184880.2(PCDH19):c.3046G>T (p.Ala1016Ser)
NM_001184880.2(PCDH19):c.3051C>T (p.Thr1017=) rs1283188999
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs) rs1924620442
NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly)
NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala)
NM_001184880.2(PCDH19):c.3066C>T (p.Val1022=)
NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)
NM_001184880.2(PCDH19):c.3070G>C (p.Asp1024His)
NM_001184880.2(PCDH19):c.3073C>T (p.His1025Tyr) rs2147446139
NM_001184880.2(PCDH19):c.3075C>T (p.His1025=)
NM_001184880.2(PCDH19):c.3087G>T (p.Glu1029Asp)
NM_001184880.2(PCDH19):c.3096C>T (p.Thr1032=)
NM_001184880.2(PCDH19):c.309C>T (p.Leu103=)
NM_001184880.2(PCDH19):c.30G>A (p.Leu10=) rs2147542972
NM_001184880.2(PCDH19):c.3103G>A (p.Gly1035Ser) rs2147446085
NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=)
NM_001184880.2(PCDH19):c.3114T>C (p.Thr1038=) rs2147446077
NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile) rs2147446072
NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn)
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.3130T>A (p.Cys1044Ser)
NM_001184880.2(PCDH19):c.3138C>T (p.Pro1046=) rs2147446027
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3174C>A (p.Gly1058=)
NM_001184880.2(PCDH19):c.317T>A (p.Met106Lys)
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs) rs2147445956
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
NM_001184880.2(PCDH19):c.31C>T (p.Leu11=) rs775517393
NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr)
NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3204C>G (p.Pro1068=)
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3205C>A (p.Leu1069Ile)
NM_001184880.2(PCDH19):c.3205C>T (p.Leu1069Phe)
NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs)
NM_001184880.2(PCDH19):c.3207C>T (p.Leu1069=)
NM_001184880.2(PCDH19):c.3208C>G (p.His1070Asp) rs2147445892
NM_001184880.2(PCDH19):c.3219C>T (p.Ser1073=)
NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys)
NM_001184880.2(PCDH19):c.3226C>A (p.Pro1076Thr)
NM_001184880.2(PCDH19):c.3235C>A (p.Pro1079Thr) rs200854927
NM_001184880.2(PCDH19):c.3240C>T (p.Ser1080=)
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu) rs774791898
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs) rs1602566823
NM_001184880.2(PCDH19):c.3269C>A (p.Pro1090Gln)
NM_001184880.2(PCDH19):c.3272C>T (p.Ala1091Val)
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) rs745989871
NM_001184880.2(PCDH19):c.3286C>A (p.Gln1096Lys) rs2147445718
NM_001184880.2(PCDH19):c.328A>G (p.Met110Val) rs1057520139
NM_001184880.2(PCDH19):c.3293TCAACAATG[1] (p.1098VNN[1])
NM_001184880.2(PCDH19):c.3300T>C (p.Asn1100=)
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser) rs754499060
NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile)
NM_001184880.2(PCDH19):c.3324C>T (p.Pro1108=)
NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser) rs763455091
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro) rs770137596
NM_001184880.2(PCDH19):c.3344G>T (p.Gly1115Val) rs2147445596
NM_001184880.2(PCDH19):c.3353G>T (p.Ser1118Ile)
NM_001184880.2(PCDH19):c.3354_3355insT (p.Glu1119Ter) rs2147445563
NM_001184880.2(PCDH19):c.3356A>T (p.Glu1119Val)
NM_001184880.2(PCDH19):c.335T>G (p.Ile112Ser) rs2147542128
NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu) rs1924601817
NM_001184880.2(PCDH19):c.3364A>C (p.Met1122Leu)
NM_001184880.2(PCDH19):c.336C>T (p.Ile112=)
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) rs1569284025
NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met) rs1924600376
NM_001184880.2(PCDH19):c.3394G>A (p.Gly1132Ser)
NM_001184880.2(PCDH19):c.339C>T (p.Cys113=)
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) rs999749949
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=) rs1555972516
NM_001184880.2(PCDH19):c.340G>C (p.Val114Leu)
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser) rs760947009
NM_001184880.2(PCDH19):c.3416G>A (p.Gly1139Asp)
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu) rs1456843420
NM_001184880.2(PCDH19):c.3422A>G (p.Lys1141Arg)
NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup) rs1924597346
NM_001184880.2(PCDH19):c.3436_3437dup (p.Val1147fs) rs1924597176
NM_001184880.2(PCDH19):c.3438del (p.Ile1146fs) rs764067138
NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu) rs138771033
NM_001184880.2(PCDH19):c.344T>A (p.Ile115Lys) rs1928464417
NM_001184880.2(PCDH19):c.344_345del (p.Ile115fs)
NM_001184880.2(PCDH19):c.357del (p.Lys120fs)
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn) rs1214373921
NM_001184880.2(PCDH19):c.360G>T (p.Lys120Asn)
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala) rs1928463633
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.369C>T (p.Asn123=)
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala) rs2147542056
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.378G>A (p.Ala126=)
NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs)
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser) rs1928462873
NM_001184880.2(PCDH19):c.37G>A (p.Ala13Thr)
NM_001184880.2(PCDH19):c.380C>T (p.Pro127Leu) rs2147542030
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs) rs1928462092
NM_001184880.2(PCDH19):c.385T>C (p.Phe129Leu)
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser) rs1602638047
NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile) rs2147543046
NM_001184880.2(PCDH19):c.402C>G (p.Ile134Met)
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter) rs759398718
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter) rs1555985689
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.417G>C (p.Ser139=)
NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys)
NM_001184880.2(PCDH19):c.418G>C (p.Glu140Gln)
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly) rs1928460473
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys) rs796052799
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
NM_001184880.2(PCDH19):c.438G>A (p.Thr146=) rs776584913
NM_001184880.2(PCDH19):c.439C>T (p.Arg147Cys)
NM_001184880.2(PCDH19):c.43C>A (p.Leu15Met)
NM_001184880.2(PCDH19):c.444C>G (p.Ile148Met) rs770381945
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala) rs1928459143
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser) rs1928459143
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.463G>A (p.Asp155Asn) rs796052800
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) rs796052800
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs) rs1928457666
NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter) rs796052801
NM_001184880.2(PCDH19):c.474A>G (p.Ser158=)
NM_001184880.2(PCDH19):c.475G>A (p.Gly159Arg) rs2147541809
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
NM_001184880.2(PCDH19):c.476del (p.Gly159fs) rs1928457396
NM_001184880.2(PCDH19):c.478del (p.Ser160fs)
NM_001184880.2(PCDH19):c.487G>A (p.Val163Met)
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del) rs1928454411
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) rs2147541749
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) rs2147541733
NM_001184880.2(PCDH19):c.506del (p.Thr169fs) rs2147541704
NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)
NM_001184880.2(PCDH19):c.512dup (p.Asn171fs)
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter) rs1928454112
NM_001184880.2(PCDH19):c.515del (p.Glu172fs)
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.529G>C (p.Glu177Gln)
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter) rs2147542870
NM_001184880.2(PCDH19):c.533del (p.Ile178fs) rs1928452385
NM_001184880.2(PCDH19):c.534C>G (p.Ile178Met)
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) rs1602637774
NM_001184880.2(PCDH19):c.539C>A (p.Thr180Lys) rs796052803
NM_001184880.2(PCDH19):c.53_62del (p.Gln18fs) rs2147542837
NM_001184880.2(PCDH19):c.540G>T (p.Thr180=)
NM_001184880.2(PCDH19):c.543_544del (p.Gly182fs)
NM_001184880.2(PCDH19):c.554C>T (p.Ser185Phe)
NM_001184880.2(PCDH19):c.564del (p.Glu189fs) rs1928449770
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) rs1602637696
NM_001184880.2(PCDH19):c.567A>G (p.Glu189=)
NM_001184880.2(PCDH19):c.569T>C (p.Leu190Pro) rs2147541432
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val) rs1928482665
NM_001184880.2(PCDH19):c.570C>G (p.Leu190=)
NM_001184880.2(PCDH19):c.571G>A (p.Val191Met) rs753757730
NM_001184880.2(PCDH19):c.573G>A (p.Val191=)
NM_001184880.2(PCDH19):c.574G>A (p.Val192Met)
NM_001184880.2(PCDH19):c.577G>T (p.Glu193Ter) rs2147541401
NM_001184880.2(PCDH19):c.581del (p.Lys194fs) rs1928448324
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.590A>G (p.Asp197Gly) rs2147541373
NM_001184880.2(PCDH19):c.591C>G (p.Asp197Glu) rs374554305
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly) rs2147541358
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.594C>A (p.Arg198=)
NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met)
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs) rs2147541270
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys) rs2147541289
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro) rs1928446616
NM_001184880.2(PCDH19):c.606G>A (p.Ser202=)
NM_001184880.2(PCDH19):c.609C>G (p.His203Gln)
NM_001184880.2(PCDH19):c.60C>T (p.Ala20=) rs2147542847
NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter) rs1602637608
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg)
NM_001184880.2(PCDH19):c.615del (p.Phe206fs) rs1928445406
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr)
NM_001184880.2(PCDH19):c.618C>T (p.Phe206=)
NM_001184880.2(PCDH19):c.619C>G (p.Arg207Gly)
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn) rs796052804
NM_001184880.2(PCDH19):c.623_624delinsAA (p.Ile208Lys) rs2147541189
NM_001184880.2(PCDH19):c.626C>A (p.Thr209Asn) rs1928444379
NM_001184880.2(PCDH19):c.636C>G (p.Asp212Glu) rs2147541121
NM_001184880.2(PCDH19):c.636C>T (p.Asp212=)
NM_001184880.2(PCDH19):c.638G>T (p.Gly213Val) rs1928443396
NM_001184880.2(PCDH19):c.644A>T (p.Asp215Val) rs935781189
NM_001184880.2(PCDH19):c.648G>A (p.Pro216=) rs996601558
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro) rs1210258504
NM_001184880.2(PCDH19):c.659del (p.Gly220fs) rs1928441222
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg)
NM_001184880.2(PCDH19):c.670del (p.Ser225fs) rs1602637452
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val) rs1248114037
NM_001184880.2(PCDH19):c.678C>T (p.Ile226=)
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter) rs1928440191
NM_001184880.2(PCDH19):c.681G>A (p.Lys227=)
NM_001184880.2(PCDH19):c.687C>T (p.Thr229=) rs1380357181
NM_001184880.2(PCDH19):c.687del (p.Asp230fs) rs1928439511
NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn) rs1928439241
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001184880.2(PCDH19):c.696T>G (p.Asn232Lys) rs796052807
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp) rs1928438552
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del) rs1928438102
NM_001184880.2(PCDH19):c.701A>C (p.Asn234Thr) rs1555985475
NM_001184880.2(PCDH19):c.703A>T (p.Asn235Tyr)
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser) rs1928437614
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.714del (p.Phe238fs) rs2147540836
NM_001184880.2(PCDH19):c.717C>G (p.Ser239Arg) rs199628956
NM_001184880.2(PCDH19):c.720G>A (p.Glu240=)
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser) rs1602637358
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) rs1166554052
NM_001184880.2(PCDH19):c.729C>G (p.Tyr243Ter)
NM_001184880.2(PCDH19):c.730G>A (p.Ala244Thr)
NM_001184880.2(PCDH19):c.735G>A (p.Val245=)
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln) rs1602637340
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.746A>G (p.Glu249Gly) rs2147540751
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp) rs2147540748
NM_001184880.2(PCDH19):c.74T>C (p.Leu25Pro)
NM_001184880.2(PCDH19):c.752C>A (p.Ser251Ter)
NM_001184880.2(PCDH19):c.754C>T (p.Pro252Ser)
NM_001184880.2(PCDH19):c.758C>A (p.Pro253His)
NM_001184880.2(PCDH19):c.758C>G (p.Pro253Arg)
NM_001184880.2(PCDH19):c.758C>T (p.Pro253Leu)
NM_001184880.2(PCDH19):c.762C>A (p.Asn254Lys)
NM_001184880.2(PCDH19):c.765A>G (p.Thr255=) rs2147540684
NM_001184880.2(PCDH19):c.766C>T (p.Pro256Ser)
NM_001184880.2(PCDH19):c.778C>G (p.Leu260Val)
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg) rs1928431321
NM_001184880.2(PCDH19):c.783C>T (p.Asn261=) rs1928431100
NM_001184880.2(PCDH19):c.784G>T (p.Ala262Ser)
NM_001184880.2(PCDH19):c.786del (p.Ser263fs)
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His) rs587784300
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
NM_001184880.2(PCDH19):c.793C>T (p.Pro265Ser)
NM_001184880.2(PCDH19):c.795A>T (p.Pro265=) rs1602637247
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter) rs1057524751
NM_001184880.2(PCDH19):c.79T>A (p.Tyr27Asn) rs1928481376
NM_001184880.2(PCDH19):c.800_802del (p.Glu267del)
NM_001184880.2(PCDH19):c.804C>T (p.Gly268=)
NM_001184880.2(PCDH19):c.805del (p.Thr269fs) rs796052827
NM_001184880.2(PCDH19):c.807_810dup (p.Gly271fs) rs2147540522
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
NM_001184880.2(PCDH19):c.810C>T (p.Asn270=) rs2147540518
NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser) rs1928427097
NM_001184880.2(PCDH19):c.812G>T (p.Gly271Val) rs2147540502
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs) rs1928426655
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs) rs1928424443
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys) rs1928426496
NM_001184880.2(PCDH19):c.826_827del (p.Ser276fs)
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.82T>G (p.Ser28Ala)
NM_001184880.2(PCDH19):c.830_832del (p.Phe277del)
NM_001184880.2(PCDH19):c.831C>T (p.Phe277=)
NM_001184880.2(PCDH19):c.833del (p.Tyr278fs) rs2147540431
NM_001184880.2(PCDH19):c.83C>A (p.Ser28Ter) rs766962106
NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter)
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)
NM_001184880.2(PCDH19):c.84G>A (p.Ser28=)
NM_001184880.2(PCDH19):c.851G>T (p.Arg284Leu)
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) rs1928424117
NM_001184880.2(PCDH19):c.854C>A (p.Thr285Lys)
NM_001184880.2(PCDH19):c.854C>T (p.Thr285Met)
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) rs1555985427
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer) rs1928480582
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
NM_001184880.2(PCDH19):c.864C>G (p.Leu288=) rs750350919
NM_001184880.2(PCDH19):c.870G>T (p.Gln290His)
NM_001184880.2(PCDH19):c.873C>A (p.Ile291=)
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.879G>C (p.Pro293=)
NM_001184880.2(PCDH19):c.882C>T (p.His294=) rs2147540267
NM_001184880.2(PCDH19):c.883_886dup (p.Gly296fs) rs2147540245
NM_001184880.2(PCDH19):c.883del (p.Ser295fs) rs2147540261
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val) rs1459520904
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys) rs931969825
NM_001184880.2(PCDH19):c.891G>A (p.Leu297=)
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala) rs1555985398
NM_001184880.2(PCDH19):c.8C>A (p.Ser3Ter)
NM_001184880.2(PCDH19):c.901_906delinsGCCAGTGACAGT (p.Thr301_Gly302delinsAlaSerAspSer)
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile) rs1928420254
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794
NM_001184880.2(PCDH19):c.92_95dup (p.Gln33fs) rs2147542719
NM_001184880.2(PCDH19):c.930C>T (p.His310=)
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) rs1602636952
NM_001184880.2(PCDH19):c.93G>A (p.Glu31=)
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met)
NM_001184880.2(PCDH19):c.949C>G (p.Gln317Glu)
NM_001184880.2(PCDH19):c.949C>T (p.Gln317Ter) rs2147540086
NM_001184880.2(PCDH19):c.957G>A (p.Lys319=)
NM_001184880.2(PCDH19):c.958G>A (p.Asp320Asn)
NM_001184880.2(PCDH19):c.958G>C (p.Asp320His) rs1928416953
NM_001184880.2(PCDH19):c.959A>G (p.Asp320Gly)
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) rs1602636925
NM_001184880.2(PCDH19):c.966G>A (p.Gly322=)
NM_001184880.2(PCDH19):c.967C>A (p.Pro323Thr) rs2147540049
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser) rs2147540049
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
NM_001184880.2(PCDH19):c.973_974del (p.Ser325fs)
NM_001184880.2(PCDH19):c.979C>T (p.Pro327Ser) rs1928416253
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter) rs1928479952
NM_001184880.2(PCDH19):c.981G>A (p.Pro327=)
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs)
NM_001184880.2(PCDH19):c.994G>A (p.Val332Ile)
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001184880.2(PCDH19):c.999del (p.Val334fs)
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del

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