NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg)
|
rs201989363
|
0.00013
|
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg)
|
rs747124369
|
0.00012
|
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.1877C>T (p.Thr626Ile)
|
rs201764553
|
0.00007
|
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met)
|
rs779051005
|
0.00006
|
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys)
|
rs746274631
|
0.00006
|
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.3127A>G (p.Ile1043Val)
|
rs189342249
|
0.00005
|
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser)
|
rs777494666
|
0.00005
|
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.3157C>T (p.Arg1053Trp)
|
rs774986147
|
0.00003
|
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser)
|
rs371028786
|
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.922G>A (p.Glu308Lys)
|
rs775309866
|
0.00003
|
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.1657A>G (p.Ile553Val)
|
rs796052818
|
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.2798A>G (p.Asp933Gly)
|
rs369379155
|
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.3424C>T (p.Arg1142Cys)
|
rs375132545
|
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.851G>A (p.Arg284His)
|
rs749526030
|
0.00002
|
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu)
|
rs1396289338
|
0.00002
|
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr)
|
rs755904886
|
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.1382T>C (p.Ile461Thr)
|
rs778219829
|
0.00001
|
NM_001184880.2(PCDH19):c.1417C>T (p.Leu473Phe)
|
rs751977016
|
0.00001
|
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met)
|
rs773087045
|
0.00001
|
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr)
|
rs778072039
|
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.1831G>C (p.Asp611His)
|
rs1361535008
|
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.2203A>G (p.Lys735Glu)
|
rs1382149285
|
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.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.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.3079G>A (p.Ala1027Thr)
|
rs201509171
|
0.00001
|
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile)
|
rs796052793
|
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.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.3341G>A (p.Arg1114His)
|
rs770137596
|
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.3398G>A (p.Arg1133His)
|
rs771849535
|
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.652C>G (p.Arg218Gly)
|
rs1339944196
|
0.00001
|
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile)
|
rs587784298
|
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.809A>G (p.Asn270Ser)
|
rs772171727
|
0.00001
|
NC_000023.11:g.(?_100296257)_(100408617_?)dup
|
|
|
NM_001184880.2(PCDH19):c.1000G>C (p.Val334Leu)
|
|
|
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn)
|
rs796052810
|
|
NM_001184880.2(PCDH19):c.1012G>T (p.Asp338Tyr)
|
rs2147539946
|
|
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val)
|
rs1928413482
|
|
NM_001184880.2(PCDH19):c.1037T>C (p.Ile346Thr)
|
|
|
NM_001184880.2(PCDH19):c.103G>C (p.Ala35Pro)
|
rs2147542686
|
|
NM_001184880.2(PCDH19):c.1069G>A (p.Glu357Lys)
|
|
|
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln)
|
rs868697675
|
|
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
|
|
|
NM_001184880.2(PCDH19):c.1080G>C (p.Glu360Asp)
|
rs2147539716
|
|
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.1097A>G (p.Tyr366Cys)
|
rs1928409253
|
|
NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met)
|
|
|
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
|
rs1602636688
|
|
NM_001184880.2(PCDH19):c.1120T>A (p.Ser374Thr)
|
rs1928407939
|
|
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)
|
rs1928407580
|
|
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His)
|
rs1569315006
|
|
NM_001184880.2(PCDH19):c.115A>C (p.Ile39Leu)
|
|
|
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val)
|
rs1928404497
|
|
NM_001184880.2(PCDH19):c.1191G>A (p.Gln397=)
|
|
|
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.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.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.1292C>G (p.Pro431Arg)
|
rs1569314874
|
|
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.1335C>G (p.Asp445Glu)
|
rs796052815
|
|
NM_001184880.2(PCDH19):c.1349A>C (p.His450Pro)
|
rs2147539030
|
|
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu)
|
|
|
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.1372T>A (p.Tyr458Asn)
|
|
|
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys)
|
rs1928392499
|
|
NM_001184880.2(PCDH19):c.1390G>C (p.Glu464Gln)
|
|
|
NM_001184880.2(PCDH19):c.140G>T (p.Arg47Leu)
|
|
|
NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys)
|
|
|
NM_001184880.2(PCDH19):c.1427C>T (p.Ser476Phe)
|
|
|
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.1443C>G (p.Asp481Glu)
|
rs1602636091
|
|
NM_001184880.2(PCDH19):c.1444C>G (p.Leu482Val)
|
|
|
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.1469A>G (p.Tyr490Cys)
|
rs1555985142
|
|
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu)
|
rs1060502177
|
|
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.1488G>C (p.Gln496His)
|
rs2147538625
|
|
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys)
|
rs1928382143
|
|
NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser)
|
rs1928381502
|
|
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.154G>C (p.Ala52Pro)
|
|
|
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.1581G>C (p.Lys527Asn)
|
|
|
NM_001184880.2(PCDH19):c.1601T>C (p.Leu534Pro)
|
|
|
NM_001184880.2(PCDH19):c.1611C>A (p.Asp537Glu)
|
rs766582540
|
|
NM_001184880.2(PCDH19):c.1613G>A (p.Gly538Asp)
|
|
|
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.1643C>T (p.Thr548Met)
|
rs761718877
|
|
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.1660C>T (p.Leu554Phe)
|
|
|
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly)
|
|
|
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser)
|
rs1928372472
|
|
NM_001184880.2(PCDH19):c.1675A>G (p.Asn559Asp)
|
rs2147538146
|
|
NM_001184880.2(PCDH19):c.167G>A (p.Arg56Gln)
|
rs1928475827
|
|
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr)
|
|
|
NM_001184880.2(PCDH19):c.1696C>G (p.Pro566Ala)
|
rs1928370474
|
|
NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly)
|
|
|
NM_001184880.2(PCDH19):c.1727A>G (p.Tyr576Cys)
|
|
|
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser)
|
rs951696281
|
|
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn)
|
rs1928365978
|
|
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.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.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu)
|
rs1569314297
|
|
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu)
|
rs1569314304
|
|
NM_001184880.2(PCDH19):c.1862A>G (p.Asn621Ser)
|
|
|
NM_001184880.2(PCDH19):c.1865G>T (p.Gly622Val)
|
rs1928362026
|
|
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly)
|
rs796052822
|
|
NM_001184880.2(PCDH19):c.1891G>C (p.Gly631Arg)
|
|
|
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp)
|
rs750599959
|
|
NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg)
|
|
|
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met)
|
rs1221643775
|
|
NM_001184880.2(PCDH19):c.1924G>T (p.Val642Leu)
|
|
|
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His)
|
|
|
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser)
|
|
|
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe)
|
rs587784296
|
|
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)
|
|
|
NM_001184880.2(PCDH19):c.197A>G (p.Asn66Ser)
|
|
|
NM_001184880.2(PCDH19):c.1988C>T (p.Ser663Phe)
|
rs2147537323
|
|
NM_001184880.2(PCDH19):c.1993_1994delinsAA (p.Ala665Asn)
|
|
|
NM_001184880.2(PCDH19):c.1996C>G (p.Leu666Val)
|
rs2147537309
|
|
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
|
|
|
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp)
|
rs868762744
|
|
NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met)
|
|
|
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr)
|
rs1064797379
|
|
NM_001184880.2(PCDH19):c.2030T>C (p.Leu677Ser)
|
|
|
NM_001184880.2(PCDH19):c.203C>T (p.Ala68Val)
|
rs1928473737
|
|
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.211C>A (p.Leu71Ile)
|
|
|
NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)
|
|
|
NM_001184880.2(PCDH19):c.2148-8C>T
|
|
|
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met)
|
rs1928262563
|
|
NM_001184880.2(PCDH19):c.2195A>G (p.Gln732Arg)
|
|
|
NM_001184880.2(PCDH19):c.2202C>T (p.Ser734=)
|
|
|
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu)
|
|
|
NM_001184880.2(PCDH19):c.2222C>G (p.Ser741Trp)
|
|
|
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu)
|
rs1335592289
|
|
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg)
|
rs1928470713
|
|
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
|
|
|
NM_001184880.2(PCDH19):c.2659G>A (p.Ala887Thr)
|
rs747735300
|
|
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln)
|
rs1602600456
|
|
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn)
|
rs1602600445
|
|
NM_001184880.2(PCDH19):c.2676-8C>A
|
rs1174620986
|
|
NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg)
|
|
|
NM_001184880.2(PCDH19):c.2730G>C (p.Glu910Asp)
|
|
|
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp)
|
rs1926264482
|
|
NM_001184880.2(PCDH19):c.2761G>A (p.Val921Ile)
|
|
|
NM_001184880.2(PCDH19):c.2768G>A (p.Arg923Gln)
|
|
|
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser)
|
rs1926262402
|
|
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.2885G>A (p.Arg962Gln)
|
|
|
NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu)
|
|
|
NM_001184880.2(PCDH19):c.2921G>A (p.Arg974Gln)
|
|
|
NM_001184880.2(PCDH19):c.2929A>G (p.Met977Val)
|
rs2147446474
|
|
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.2983A>G (p.Ile995Val)
|
rs1413490920
|
|
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del)
|
rs796052825
|
|
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.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.3046G>A (p.Ala1016Thr)
|
rs1327141854
|
|
NM_001184880.2(PCDH19):c.3046G>T (p.Ala1016Ser)
|
|
|
NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly)
|
|
|
NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala)
|
|
|
NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)
|
|
|
NM_001184880.2(PCDH19):c.3073C>T (p.His1025Tyr)
|
rs2147446139
|
|
NM_001184880.2(PCDH19):c.3087G>T (p.Glu1029Asp)
|
|
|
NM_001184880.2(PCDH19):c.3103G>A (p.Gly1035Ser)
|
rs2147446085
|
|
NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=)
|
|
|
NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile)
|
rs2147446072
|
|
NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn)
|
|
|
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
|
|
|
NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr)
|
|
|
NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)
|
|
|
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.3208C>G (p.His1070Asp)
|
rs2147445892
|
|
NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys)
|
|
|
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu)
|
rs774791898
|
|
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.3293TCAACAATG[1] (p.1098VNN[1])
|
|
|
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser)
|
rs754499060
|
|
NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile)
|
|
|
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.3370G>C (p.Glu1124Gln)
|
rs1569284025
|
|
NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met)
|
rs1924600376
|
|
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs)
|
rs999749949
|
|
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.360G>C (p.Lys120Asn)
|
rs1214373921
|
|
NM_001184880.2(PCDH19):c.360G>T (p.Lys120Asn)
|
|
|
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.386T>C (p.Phe129Ser)
|
rs1602638047
|
|
NM_001184880.2(PCDH19):c.402C>G (p.Ile134Met)
|
|
|
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn)
|
rs1602637994
|
|
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.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.457_458delinsAT (p.Ala153Ile)
|
rs863224907
|
|
NM_001184880.2(PCDH19):c.475G>A (p.Gly159Arg)
|
rs2147541809
|
|
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
|
|
|
NM_001184880.2(PCDH19):c.487G>A (p.Val163Met)
|
|
|
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del)
|
rs1928454411
|
|
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
|
|
|
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe)
|
rs587784297
|
|
NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)
|
|
|
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=)
|
rs971048873
|
|
NM_001184880.2(PCDH19):c.529G>C (p.Glu177Gln)
|
|
|
NM_001184880.2(PCDH19):c.534C>G (p.Ile178Met)
|
|
|
NM_001184880.2(PCDH19):c.539C>A (p.Thr180Lys)
|
rs796052803
|
|
NM_001184880.2(PCDH19):c.554C>T (p.Ser185Phe)
|
|
|
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.571G>A (p.Val191Met)
|
rs753757730
|
|
NM_001184880.2(PCDH19):c.574G>A (p.Val192Met)
|
|
|
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro)
|
rs1413763025
|
|
NM_001184880.2(PCDH19):c.591C>G (p.Asp197Glu)
|
rs374554305
|
|
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met)
|
|
|
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys)
|
rs2147541289
|
|
NM_001184880.2(PCDH19):c.609C>G (p.His203Gln)
|
|
|
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg)
|
|
|
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr)
|
|
|
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn)
|
rs796052804
|
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NM_001184880.2(PCDH19):c.623_624delinsAA (p.Ile208Lys)
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rs2147541189
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NM_001184880.2(PCDH19):c.626C>A (p.Thr209Asn)
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rs1928444379
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NM_001184880.2(PCDH19):c.638G>T (p.Gly213Val)
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rs1928443396
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NM_001184880.2(PCDH19):c.644A>T (p.Asp215Val)
|
rs935781189
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NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro)
|
rs1210258504
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NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg)
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NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val)
|
rs1248114037
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NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala)
|
rs1555985491
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NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del)
|
rs1928438102
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NM_001184880.2(PCDH19):c.703A>T (p.Asn235Tyr)
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NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
|
rs1602637358
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|
NM_001184880.2(PCDH19):c.730G>A (p.Ala244Thr)
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|
NM_001184880.2(PCDH19):c.754C>T (p.Pro252Ser)
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|
NM_001184880.2(PCDH19):c.758C>A (p.Pro253His)
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|
NM_001184880.2(PCDH19):c.762C>A (p.Asn254Lys)
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|
NM_001184880.2(PCDH19):c.778C>G (p.Leu260Val)
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NM_001184880.2(PCDH19):c.784G>T (p.Ala262Ser)
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|
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
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|
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)
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|
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.79T>A (p.Tyr27Asn)
|
rs1928481376
|
|
NM_001184880.2(PCDH19):c.800_802del (p.Glu267del)
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|
|
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.824A>G (p.Tyr275Cys)
|
rs1928426496
|
|
NM_001184880.2(PCDH19):c.82T>G (p.Ser28Ala)
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|
|
NM_001184880.2(PCDH19):c.830_832del (p.Phe277del)
|
|
|
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)
|
|
|
NM_001184880.2(PCDH19):c.854C>A (p.Thr285Lys)
|
|
|
NM_001184880.2(PCDH19):c.854C>T (p.Thr285Met)
|
|
|
NM_001184880.2(PCDH19):c.870G>T (p.Gln290His)
|
|
|
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys)
|
rs931969825
|
|
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.919G>A (p.Glu307Lys)
|
rs1569315225
|
|
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met)
|
|
|
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.979C>T (p.Pro327Ser)
|
rs1928416253
|
|
NM_001184880.2(PCDH19):c.994G>A (p.Val332Ile)
|
|
|