ClinVar Miner

List of variants in gene PCDH19 studied for not provided

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Gene type:
ClinVar version:
Total variants: 362
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HGVS dbSNP gnomAD frequency
NM_001184880.1(PCDH19):c.-1738G>C rs5967130 0.99962
NM_001184880.1(PCDH19):c.-1690C>T rs113897133 0.28732
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_001184880.2(PCDH19):c.-488G>C rs180840648 0.14059
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_001184880.2(PCDH19):c.2616+191G>T rs10482000 0.05593
NM_001184880.2(PCDH19):c.2676-218C>T rs17282289 0.03638
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.-119C>T rs769230052 0.00956
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001184880.2(PCDH19):c.2616+248A>G rs142870271 0.00393
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.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.-40G>A rs766331456 0.00042
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.2617-7A>G rs370859689 0.00035
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773 0.00031
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.3037C>A (p.Arg1013=) rs376406896 0.00014
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718 0.00012
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=) rs181719144 0.00012
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.545G>C (p.Gly182Ala) rs727504067 0.00009
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=) rs370939779 0.00008
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.540G>A (p.Thr180=) rs368094294 0.00006
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.3320G>A (p.Arg1107His) rs200021840 0.00005
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.886G>A (p.Gly296Ser) rs373336253 0.00004
NM_001184880.2(PCDH19):c.1447G>A (p.Gly483Ser) rs776683765 0.00003
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met) rs755403368 0.00003
NM_001184880.2(PCDH19):c.117T>A (p.Ile39=) rs750597794 0.00002
NM_001184880.2(PCDH19):c.128C>T (p.Ala43Val) rs1064795511 0.00002
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met) rs200637767 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.2820C>G (p.Thr940=) rs375040933 0.00002
NM_001184880.2(PCDH19):c.2884C>T (p.Arg962Trp) rs779085409 0.00002
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403 0.00002
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=) rs767664406 0.00002
NM_001184880.2(PCDH19):c.3259C>T (p.Leu1087=) rs373432764 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.768C>T (p.Pro256=) rs761277974 0.00002
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His) rs749526030 0.00002
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359 0.00001
NM_001184880.2(PCDH19):c.1177C>T (p.Pro393Ser) rs775774922 0.00001
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr) rs778219829 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.1549G>A (p.Ala517Thr) rs778072039 0.00001
NM_001184880.2(PCDH19):c.1569C>T (p.His523=) rs753119035 0.00001
NM_001184880.2(PCDH19):c.1612G>A (p.Gly538Ser) rs1224921343 0.00001
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=) rs1282368557 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.201G>A (p.Ser67=) rs202078154 0.00001
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524 0.00001
NM_001184880.2(PCDH19):c.2227T>A (p.Ser743Thr) rs1454878276 0.00001
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=) rs794726898 0.00001
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val) rs778668005 0.00001
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp) rs752763816 0.00001
NM_001184880.2(PCDH19):c.2781T>C (p.Cys927=) rs1555977733 0.00001
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080 0.00001
NM_001184880.2(PCDH19):c.2895C>T (p.Gly965=) rs1602567395 0.00001
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe) rs796052838 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.3158G>A (p.Arg1053Gln) rs1241637351 0.00001
NM_001184880.2(PCDH19):c.3248A>G (p.Tyr1083Cys) rs1315498661 0.00001
NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=) rs753229559 0.00001
NM_001184880.2(PCDH19):c.3339C>G (p.Pro1113=) rs1230901546 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.3393A>G (p.Glu1131=) rs1448795169 0.00001
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His) rs771849535 0.00001
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282 0.00001
NM_001184880.2(PCDH19):c.684G>A (p.Val228=) rs201810406 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln) rs796052808 0.00001
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) rs772171727 0.00001
NC_000023.11:g.100410351GCC[1] rs34987103
NM_001184880.2(PCDH19):c.-1142CGG[11] rs59564734
NM_001184880.2(PCDH19):c.-1142CGG[13] rs59564734
NM_001184880.2(PCDH19):c.-1142CGG[7] rs59564734
NM_001184880.2(PCDH19):c.-423C>T rs111823340
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) rs796052810
NM_001184880.2(PCDH19):c.1014C>T (p.Asp338=)
NM_001184880.2(PCDH19):c.1018A>C (p.Asn340His)
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.1031C>A (p.Pro344Gln) rs796052811
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)
NM_001184880.2(PCDH19):c.1078G>C (p.Glu360Gln) rs1928410872
NM_001184880.2(PCDH19):c.1079A>C (p.Glu360Ala) rs1555985327
NM_001184880.2(PCDH19):c.1081A>G (p.Ser361Gly)
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=)
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala)
NM_001184880.2(PCDH19):c.1091C>T (p.Pro364Leu)
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1101del (p.Ile368fs) rs886044166
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.1123G>A (p.Asp375Asn) rs1928407580
NM_001184880.2(PCDH19):c.1124A>G (p.Asp375Gly)
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1134del (p.Gly379fs) rs796052830
NM_001184880.2(PCDH19):c.1157G>T (p.Cys386Phe) rs2147539484
NM_001184880.2(PCDH19):c.1159C>G (p.Arg387Gly)
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1228C>G (p.Arg410Gly)
NM_001184880.2(PCDH19):c.1232T>A (p.Leu411Gln)
NM_001184880.2(PCDH19):c.1237C>T (p.Arg413Cys)
NM_001184880.2(PCDH19):c.1241A>T (p.Glu414Val) rs796052814
NM_001184880.2(PCDH19):c.1249G>T (p.Asp417Tyr)
NM_001184880.2(PCDH19):c.124G>A (p.Val42Met) rs767840869
NM_001184880.2(PCDH19):c.1256A>G (p.Tyr419Cys)
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.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.1288G>A (p.Val430Met)
NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs) rs1602636466
NM_001184880.2(PCDH19):c.1308del (p.Lys437fs) rs796052831
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) rs1602638463
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1340A>C (p.Asn447Thr)
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn) rs1569314809
NM_001184880.2(PCDH19):c.1351C>T (p.Pro451Ser) rs796052816
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu)
NM_001184880.2(PCDH19):c.1355A>C (p.His452Pro) rs777851773
NM_001184880.2(PCDH19):c.1372T>C (p.Tyr458His) rs1064794762
NM_001184880.2(PCDH19):c.1376del (p.Gln459fs) rs796052829
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896
NM_001184880.2(PCDH19):c.1418T>A (p.Leu473His) rs764454230
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs) rs1085307873
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs) rs2147538796
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn) rs1064794763
NM_001184880.2(PCDH19):c.1441G>A (p.Asp481Asn)
NM_001184880.2(PCDH19):c.1446G>T (p.Leu482=)
NM_001184880.2(PCDH19):c.1448del (p.Gly483fs) rs1602636059
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.2(PCDH19):c.1478_1485del (p.Val493fs) rs1131692002
NM_001184880.2(PCDH19):c.1501C>T (p.Pro501Ser) rs2147538596
NM_001184880.2(PCDH19):c.1505_1554del (p.Val502fs) rs1928379522
NM_001184880.2(PCDH19):c.1507T>G (p.Phe503Val) rs2147538585
NM_001184880.2(PCDH19):c.1521del (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro)
NM_001184880.2(PCDH19):c.1565del (p.Asn522fs) rs2147538462
NM_001184880.2(PCDH19):c.1616G>T (p.Gly539Val)
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter) rs796052817
NM_001184880.2(PCDH19):c.1633A>T (p.Ser545Cys)
NM_001184880.2(PCDH19):c.1636_1639dup (p.Ala547fs)
NM_001184880.2(PCDH19):c.1639G>A (p.Ala547Thr)
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) rs1928375454
NM_001184880.2(PCDH19):c.163C>T (p.Pro55Ser)
NM_001184880.2(PCDH19):c.1643C>T (p.Thr548Met) rs761718877
NM_001184880.2(PCDH19):c.1660C>T (p.Leu554Phe)
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly)
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1683_1696del (p.Val562fs) rs796052832
NM_001184880.2(PCDH19):c.1693G>C (p.Ala565Pro) rs1316928806
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.1711G>T (p.Gly571Cys) rs780242225
NM_001184880.2(PCDH19):c.1720G>T (p.Glu574Ter) rs1064797376
NM_001184880.2(PCDH19):c.1752_1759del (p.Tyr585fs) rs796052833
NM_001184880.2(PCDH19):c.1801G>C (p.Gly601Arg)
NM_001184880.2(PCDH19):c.1804C>G (p.Arg602Gly)
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1816G>A (p.Asp606Asn) rs1928364873
NM_001184880.2(PCDH19):c.1817A>G (p.Asp606Gly) rs2147537779
NM_001184880.2(PCDH19):c.1820T>C (p.Met607Thr) rs796052821
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) rs1569314297
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter) rs796052820
NM_001184880.2(PCDH19):c.1861A>G (p.Asn621Asp)
NM_001184880.2(PCDH19):c.1863T>C (p.Asn621=)
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly) rs796052822
NM_001184880.2(PCDH19):c.1882C>T (p.Arg628Cys)
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp) rs750599959
NM_001184880.2(PCDH19):c.1914T>G (p.Tyr638Ter)
NM_001184880.2(PCDH19):c.1918C>G (p.Leu640Val) rs2147537509
NM_001184880.2(PCDH19):c.194C>T (p.Ser65Phe) rs769833284
NM_001184880.2(PCDH19):c.1952dup (p.Leu652fs) rs796052834
NM_001184880.2(PCDH19):c.1956_1959del (p.Ser653fs) rs796052835
NM_001184880.2(PCDH19):c.1958_1959dup (p.Ala654fs) rs796052835
NM_001184880.2(PCDH19):c.200C>A (p.Ser67Ter) rs868762744
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2032T>G (p.Ser678Ala) rs1602635161
NM_001184880.2(PCDH19):c.2071_2074del (p.Ile691fs)
NM_001184880.2(PCDH19):c.2073C>T (p.Ile691=)
NM_001184880.2(PCDH19):c.2078T>C (p.Phe693Ser) rs2147537187
NM_001184880.2(PCDH19):c.209_210del (p.His70fs) rs1555985799
NM_001184880.2(PCDH19):c.2122A>T (p.Lys708Ter) rs1569314119
NM_001184880.2(PCDH19):c.2136C>T (p.Thr712=) rs950694232
NM_001184880.2(PCDH19):c.2147+1G>A rs1555984947
NM_001184880.2(PCDH19):c.2147+2T>C rs1555984946
NM_001184880.2(PCDH19):c.215T>G (p.Val72Gly)
NM_001184880.2(PCDH19):c.2165C>T (p.Thr722Ile)
NM_001184880.2(PCDH19):c.218_219insG (p.Asp73fs) rs796052841
NM_001184880.2(PCDH19):c.21_39del (p.Val8fs) rs1555985864
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu)
NM_001184880.2(PCDH19):c.222C>G (p.Ile74Met) rs1064797378
NM_001184880.2(PCDH19):c.238CTG[3] (p.Leu81_Val82insLeu)
NM_001184880.2(PCDH19):c.2561_2563dup (p.Asn854_Ser855insAsn)
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2675+2T>C
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn) rs1602600445
NM_001184880.2(PCDH19):c.2676-1_2683del rs1064794781
NM_001184880.2(PCDH19):c.2684C>T (p.Thr895Ile) rs2147485135
NM_001184880.2(PCDH19):c.2714A>G (p.Lys905Arg)
NM_001184880.2(PCDH19):c.271CTG[1] (p.Leu92del) rs727504068
NM_001184880.2(PCDH19):c.2752G>A (p.Glu918Lys) rs2147485060
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) rs1064793304
NM_001184880.2(PCDH19):c.2849-12T>C
NM_001184880.2(PCDH19):c.2849-2A>G rs886039728
NM_001184880.2(PCDH19):c.2861G>A (p.Gly954Glu)
NM_001184880.2(PCDH19):c.2867A>G (p.His956Arg)
NM_001184880.2(PCDH19):c.295T>A (p.Cys99Ser) rs1064795237
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr) rs2147542235
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del) rs796052825
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.309C>G (p.Leu103=) rs1057520954
NM_001184880.2(PCDH19):c.311dup (p.Val105fs) rs1555985745
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.3182C>T (p.Ala1061Val)
NM_001184880.2(PCDH19):c.3183G>C (p.Ala1061=)
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs) rs2147445956
NM_001184880.2(PCDH19):c.3199T>G (p.Ser1067Ala)
NM_001184880.2(PCDH19):c.3219C>A (p.Ser1073Arg) rs1465124871
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu) rs774791898
NM_001184880.2(PCDH19):c.3270A>C (p.Pro1090=) rs1924607775
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) rs745989871
NM_001184880.2(PCDH19):c.3277G>C (p.Asp1093His)
NM_001184880.2(PCDH19):c.328A>G (p.Met110Val) rs1057520139
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser) rs754499060
NM_001184880.2(PCDH19):c.3354_3355insT (p.Glu1119Ter) rs2147445563
NM_001184880.2(PCDH19):c.335T>A (p.Ile112Asn) rs2147542128
NM_001184880.2(PCDH19):c.339C>T (p.Cys113=)
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) rs999749949
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu) rs1456843420
NM_001184880.2(PCDH19):c.3431A>G (p.Lys1144Arg) rs2147445397
NM_001184880.2(PCDH19):c.3432G>C (p.Lys1144Asn)
NM_001184880.2(PCDH19):c.354G>A (p.Glu118=)
NM_001184880.2(PCDH19):c.361G>A (p.Asp121Asn) rs796052795
NM_001184880.2(PCDH19):c.361G>C (p.Asp121His) rs796052795
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.370G>C (p.Asp124His) rs796052797
NM_001184880.2(PCDH19):c.370G>T (p.Asp124Tyr) rs796052797
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser) rs1928462873
NM_001184880.2(PCDH19):c.387C>A (p.Phe129Leu) rs1238011122
NM_001184880.2(PCDH19):c.388C>T (p.Pro130Ser)
NM_001184880.2(PCDH19):c.406_408dup (p.Leu136dup) rs886043865
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter) rs1555985689
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.424G>C (p.Ala142Pro) rs796052798
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
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.470A>C (p.Asp157Ala) rs1569315869
NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter) rs796052801
NM_001184880.2(PCDH19):c.48G>T (p.Trp16Cys)
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.499G>T (p.Glu167Ter) rs1555985623
NM_001184880.2(PCDH19):c.49_62del (p.Thr17fs) rs1602638594
NM_001184880.2(PCDH19):c.513C>G (p.Asn171Lys) rs749602848
NM_001184880.2(PCDH19):c.524del (p.Gly175fs) rs796052826
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter) rs2147542870
NM_001184880.2(PCDH19):c.564C>A (p.Ala188=) rs1602637704
NM_001184880.2(PCDH19):c.564C>T (p.Ala188=) rs1602637704
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) rs1602637696
NM_001184880.2(PCDH19):c.570_572dup (p.Val192dup) rs1555985576
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.595G>T (p.Glu199Ter) rs1131691603
NM_001184880.2(PCDH19):c.596A>G (p.Glu199Gly)
NM_001184880.2(PCDH19):c.59C>T (p.Ala20Val)
NM_001184880.2(PCDH19):c.613A>C (p.Ser205Arg)
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn) rs796052804
NM_001184880.2(PCDH19):c.625A>C (p.Thr209Pro) rs796052805
NM_001184880.2(PCDH19):c.634G>C (p.Asp212His) rs796052806
NM_001184880.2(PCDH19):c.643G>C (p.Asp215His)
NM_001184880.2(PCDH19):c.646_655del (p.Pro216fs) rs886039707
NM_001184880.2(PCDH19):c.647del (p.Pro216fs) rs1602637517
NM_001184880.2(PCDH19):c.661A>G (p.Thr221Ala)
NM_001184880.2(PCDH19):c.671T>C (p.Leu224Pro) rs2147540985
NM_001184880.2(PCDH19):c.682G>T (p.Val228Leu)
NM_001184880.2(PCDH19):c.696T>A (p.Asn232Lys) rs796052807
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.2(PCDH19):c.701A>G (p.Asn234Ser) rs1555985475
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.750C>G (p.Asn250Lys) rs796052809
NM_001184880.2(PCDH19):c.758C>T (p.Pro253Leu)
NM_001184880.2(PCDH19):c.77A>C (p.Lys26Thr) rs755403368
NM_001184880.2(PCDH19):c.785C>A (p.Ala262Asp) rs1555985448
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter) rs1057524751
NM_001184880.2(PCDH19):c.805del (p.Thr269fs) rs796052827
NM_001184880.2(PCDH19):c.811_825del (p.Gly271_Tyr275del) rs2147540480
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.81C>G (p.Tyr27Ter) rs56307810
NM_001184880.2(PCDH19):c.824A>C (p.Tyr275Ser) rs1928426496
NM_001184880.2(PCDH19):c.825C>A (p.Tyr275Ter) rs1057520761
NM_001184880.2(PCDH19):c.840C>G (p.Tyr280Ter)
NM_001184880.2(PCDH19):c.841del (p.Val281fs) rs1569315381
NM_001184880.2(PCDH19):c.845A>G (p.Asn282Ser)
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) rs1555985427
NM_001184880.2(PCDH19):c.865_868del (p.Phe289fs) rs1064797377
NM_001184880.2(PCDH19):c.874G>A (p.Asp292Asn)
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.878dup (p.His294fs) rs1131691362
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala) rs1555985398
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile) rs1928420254
NM_001184880.2(PCDH19):c.91G>T (p.Glu31Ter) rs796052794
NM_001184880.2(PCDH19):c.927del (p.His310fs) rs1555985389
NM_001184880.2(PCDH19):c.92A>T (p.Glu31Val) rs1064795834
NM_001184880.2(PCDH19):c.930C>T (p.His310=)
NM_001184880.2(PCDH19):c.955A>T (p.Lys319Ter) rs1569315186
NM_001184880.2(PCDH19):c.964G>C (p.Gly322Arg)
NM_001184880.2(PCDH19):c.966dup (p.Pro323fs) rs796052842
NM_001184880.2(PCDH19):c.976_981delinsTTCCC (p.Ile326fs) rs1131691509
NM_001184880.2(PCDH19):c.97C>A (p.Gln33Lys)
NM_001184880.2(PCDH19):c.980C>A (p.Pro327Gln)
NM_001184880.2(PCDH19):c.997_999dup (p.Thr333dup) rs2147540004

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