NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys)
|
rs148533341
|
0.00219
|
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met)
|
rs143570915
|
0.00209
|
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala)
|
rs139915181
|
0.00169
|
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)
|
rs144261647
|
0.00134
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_001384140.1(PCDH15):c.4671+1440C>T
|
rs183631592
|
0.00064
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_001384140.1(PCDH15):c.4671+1046A>G
|
rs201855435
|
0.00049
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
|
rs145499180
|
0.00048
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00045
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_001384140.1(PCDH15):c.913C>G (p.Gln305Glu)
|
rs143058902
|
0.00037
|
NM_001384140.1(PCDH15):c.3374-16G>A
|
rs139684809
|
0.00036
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
NM_001384140.1(PCDH15):c.4203-8C>G
|
rs200840022
|
0.00031
|
NM_001384140.1(PCDH15):c.3502-6G>A
|
rs749897896
|
0.00028
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
NM_001384140.1(PCDH15):c.2223A>G (p.Ala741=)
|
rs201332784
|
0.00021
|
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)
|
rs111033499
|
0.00021
|
NM_001384140.1(PCDH15):c.2751+14A>G
|
rs370250540
|
0.00020
|
NM_001384140.1(PCDH15):c.3122+17G>A
|
rs369096183
|
0.00020
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys)
|
rs149384350
|
0.00018
|
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)
|
rs147993163
|
0.00017
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
NM_001384140.1(PCDH15):c.1441-20G>A
|
rs368774419
|
0.00014
|
NM_001384140.1(PCDH15):c.1494A>G (p.Gln498=)
|
rs145141405
|
0.00014
|
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=)
|
rs150303579
|
0.00014
|
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=)
|
rs138177808
|
0.00013
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu)
|
rs200659780
|
0.00013
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
NM_001384140.1(PCDH15):c.4644A>G (p.Glu1548=)
|
rs200796871
|
0.00011
|
NM_001384140.1(PCDH15):c.4671+1643G>A
|
rs190515330
|
0.00011
|
NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=)
|
rs140893140
|
0.00010
|
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=)
|
rs144955298
|
0.00010
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
NM_033056.4(PCDH15):c.4611A>T (p.Ser1537=)
|
rs142387128
|
0.00009
|
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=)
|
rs367881384
|
0.00009
|
NM_001384140.1(PCDH15):c.2325G>A (p.Val775=)
|
rs200792575
|
0.00008
|
NM_001384140.1(PCDH15):c.3010-18T>C
|
rs377437264
|
0.00008
|
NM_001384140.1(PCDH15):c.4317G>A (p.Pro1439=)
|
rs370470900
|
0.00008
|
NM_001384140.1(PCDH15):c.1306-4122G>A
|
rs370242062
|
0.00007
|
NM_001384140.1(PCDH15):c.1917+12_1917+13dup
|
rs770365128
|
0.00007
|
NM_001384140.1(PCDH15):c.195T>C (p.Thr65=)
|
rs770371293
|
0.00007
|
NM_001384140.1(PCDH15):c.2262C>T (p.Tyr754=)
|
rs373539084
|
0.00007
|
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=)
|
rs772650866
|
0.00007
|
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=)
|
rs369183721
|
0.00007
|
NM_001384140.1(PCDH15):c.1306-4116G>A
|
rs200299853
|
0.00006
|
NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)
|
rs763230126
|
0.00006
|
NM_001384140.1(PCDH15):c.3010-12T>C
|
rs373410101
|
0.00006
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
NM_001384140.1(PCDH15):c.4367+11C>T
|
rs374786323
|
0.00006
|
NM_001384140.1(PCDH15):c.882A>G (p.Glu294=)
|
rs181232514
|
0.00006
|
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)
|
rs767811568
|
0.00006
|
NM_033056.4(PCDH15):c.5043G>A (p.Val1681=)
|
rs534821008
|
0.00006
|
NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=)
|
rs572643730
|
0.00006
|
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=)
|
rs200170358
|
0.00005
|
NM_001384140.1(PCDH15):c.1479C>A (p.Val493=)
|
rs371406605
|
0.00005
|
NM_001384140.1(PCDH15):c.2014T>C (p.Leu672=)
|
rs772452288
|
0.00005
|
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=)
|
rs746162109
|
0.00005
|
NM_001384140.1(PCDH15):c.3405G>A (p.Gln1135=)
|
rs202206172
|
0.00005
|
NM_001384140.1(PCDH15):c.3483T>C (p.Thr1161=)
|
rs772300262
|
0.00005
|
NM_001384140.1(PCDH15):c.4263G>T (p.Ala1421=)
|
rs372661520
|
0.00005
|
NM_001384140.1(PCDH15):c.1032A>G (p.Thr344=)
|
rs376067863
|
0.00004
|
NM_001384140.1(PCDH15):c.1152A>G (p.Glu384=)
|
rs770060277
|
0.00004
|
NM_001384140.1(PCDH15):c.1602C>G (p.Val534=)
|
rs201215741
|
0.00004
|
NM_001384140.1(PCDH15):c.2811G>A (p.Pro937=)
|
rs1449039709
|
0.00004
|
NM_001384140.1(PCDH15):c.3456T>C (p.Gly1152=)
|
rs202091131
|
0.00004
|
NM_001384140.1(PCDH15):c.3717+10T>C
|
rs376158566
|
0.00004
|
NM_001384140.1(PCDH15):c.3822T>C (p.Tyr1274=)
|
rs148548987
|
0.00004
|
NM_001384140.1(PCDH15):c.4272A>G (p.Pro1424=)
|
rs759109238
|
0.00004
|
NM_001384140.1(PCDH15):c.4329A>C (p.Pro1443=)
|
rs369289143
|
0.00004
|
NM_001384140.1(PCDH15):c.4589G>A (p.Arg1530His)
|
rs368380451
|
0.00004
|
NM_001384140.1(PCDH15):c.4672-1577C>T
|
rs373275867
|
0.00004
|
NM_001384140.1(PCDH15):c.477C>T (p.Leu159=)
|
rs748202818
|
0.00004
|
NM_001384140.1(PCDH15):c.903G>A (p.Thr301=)
|
rs189227500
|
0.00004
|
NM_001384140.1(PCDH15):c.948A>G (p.Pro316=)
|
rs773198164
|
0.00004
|
NM_033056.4(PCDH15):c.4575T>C (p.His1525=)
|
rs746377416
|
0.00004
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=)
|
rs61862392
|
0.00004
|
NM_033056.4(PCDH15):c.5853A>G (p.Gln1951=)
|
rs370042818
|
0.00004
|
NM_001384140.1(PCDH15):c.1099-18T>C
|
rs780316497
|
0.00003
|
NM_001384140.1(PCDH15):c.1230G>C (p.Val410=)
|
rs145217188
|
0.00003
|
NM_001384140.1(PCDH15):c.1305+14A>G
|
rs369153684
|
0.00003
|
NM_001384140.1(PCDH15):c.1434C>T (p.Thr478=)
|
rs745759131
|
0.00003
|
NM_001384140.1(PCDH15):c.1518G>A (p.Thr506=)
|
rs141416774
|
0.00003
|
NM_001384140.1(PCDH15):c.1918-20A>G
|
rs373117834
|
0.00003
|
NM_001384140.1(PCDH15):c.2082G>A (p.Arg694=)
|
rs756484846
|
0.00003
|
NM_001384140.1(PCDH15):c.2091+17dup
|
rs759943776
|
0.00003
|
NM_001384140.1(PCDH15):c.2268G>A (p.Leu756=)
|
rs143662833
|
0.00003
|
NM_001384140.1(PCDH15):c.2379T>C (p.Asp793=)
|
rs148920891
|
0.00003
|
NM_001384140.1(PCDH15):c.2538C>T (p.Val846=)
|
rs727504573
|
0.00003
|
NM_001384140.1(PCDH15):c.2799G>C (p.Gly933=)
|
rs139853291
|
0.00003
|
NM_001384140.1(PCDH15):c.3666T>G (p.Val1222=)
|
rs762138321
|
0.00003
|
NM_001384140.1(PCDH15):c.3708C>T (p.Ala1236=)
|
rs374185988
|
0.00003
|
NM_001384140.1(PCDH15):c.4029G>A (p.Pro1343=)
|
rs533989966
|
0.00003
|
NM_001384140.1(PCDH15):c.4211+11T>A
|
rs751800504
|
0.00003
|
NM_001384140.1(PCDH15):c.4302G>A (p.Ala1434=)
|
rs368622542
|
0.00003
|
NM_001384140.1(PCDH15):c.4368-3147T>C
|
rs376178615
|
0.00003
|
NM_001384140.1(PCDH15):c.678T>C (p.Thr226=)
|
rs759127233
|
0.00003
|
NM_001384140.1(PCDH15):c.945G>T (p.Pro315=)
|
rs150450873
|
0.00003
|
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=)
|
rs994026891
|
0.00003
|
NM_001384140.1(PCDH15):c.986-11A>G
|
rs374641355
|
0.00003
|
NM_033056.4(PCDH15):c.4413A>T (p.Ser1471=)
|
rs1392907899
|
0.00003
|
NM_033056.4(PCDH15):c.4497C>T (p.Asp1499=)
|
rs376485360
|
0.00003
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00003
|
NM_033056.4(PCDH15):c.4911G>A (p.Glu1637=)
|
rs972342055
|
0.00003
|
NM_033056.4(PCDH15):c.5169T>C (p.Pro1723=)
|
rs982576655
|
0.00003
|
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)
|
rs375134176
|
0.00003
|
NM_001384140.1(PCDH15):c.1026T>G (p.Pro342=)
|
rs1209298999
|
0.00002
|
NM_001384140.1(PCDH15):c.1239C>T (p.Thr413=)
|
rs768703592
|
0.00002
|
NM_001384140.1(PCDH15):c.1245G>A (p.Ser415=)
|
rs775789634
|
0.00002
|
NM_001384140.1(PCDH15):c.1272A>G (p.Leu424=)
|
rs1027213784
|
0.00002
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
NM_001384140.1(PCDH15):c.1650T>C (p.Val550=)
|
rs145254610
|
0.00002
|
NM_001384140.1(PCDH15):c.1725C>T (p.Val575=)
|
rs748995667
|
0.00002
|
NM_001384140.1(PCDH15):c.1797C>T (p.Cys599=)
|
rs1022105558
|
0.00002
|
NM_001384140.1(PCDH15):c.1918-6C>T
|
rs776285978
|
0.00002
|
NM_001384140.1(PCDH15):c.2118G>A (p.Val706=)
|
rs765329284
|
0.00002
|
NM_001384140.1(PCDH15):c.2658A>C (p.Pro886=)
|
rs753486321
|
0.00002
|
NM_001384140.1(PCDH15):c.2736C>A (p.Val912=)
|
rs755755292
|
0.00002
|
NM_001384140.1(PCDH15):c.2768C>T (p.Pro923Leu)
|
rs191577774
|
0.00002
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
NM_001384140.1(PCDH15):c.348G>T (p.Val116=)
|
rs751464731
|
0.00002
|
NM_001384140.1(PCDH15):c.3502-14_3502-13insTC
|
rs1554836604
|
0.00002
|
NM_001384140.1(PCDH15):c.3633T>C (p.His1211=)
|
rs570485008
|
0.00002
|
NM_001384140.1(PCDH15):c.369A>G (p.Lys123=)
|
rs1317246200
|
0.00002
|
NM_001384140.1(PCDH15):c.3806+19T>C
|
rs769403997
|
0.00002
|
NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=)
|
rs765713345
|
0.00002
|
NM_001384140.1(PCDH15):c.3966T>C (p.Asp1322=)
|
rs754979091
|
0.00002
|
NM_001384140.1(PCDH15):c.4254A>G (p.Ala1418=)
|
rs764548141
|
0.00002
|
NM_001384140.1(PCDH15):c.4332T>C (p.Gly1444=)
|
rs774607785
|
0.00002
|
NM_001384140.1(PCDH15):c.4671+1327T>C
|
rs751344048
|
0.00002
|
NM_001384140.1(PCDH15):c.684C>T (p.Tyr228=)
|
rs372867091
|
0.00002
|
NM_001384140.1(PCDH15):c.726T>C (p.Asn242=)
|
rs767845518
|
0.00002
|
NM_001384140.1(PCDH15):c.876+13_876+14del
|
rs749794539
|
0.00002
|
NM_033056.4(PCDH15):c.4734C>T (p.Val1578=)
|
rs757171617
|
0.00002
|
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)
|
rs397517461
|
0.00002
|
NM_033056.4(PCDH15):c.5004C>T (p.His1668=)
|
rs761142606
|
0.00002
|
NM_033056.4(PCDH15):c.5112G>A (p.Arg1704=)
|
rs982138826
|
0.00002
|
NM_033056.4(PCDH15):c.5178C>T (p.Thr1726=)
|
rs760796538
|
0.00002
|
NM_033056.4(PCDH15):c.5490T>C (p.Pro1830=)
|
rs775902052
|
0.00002
|
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)
|
rs750274894
|
0.00002
|
NM_033056.4(PCDH15):c.5823C>T (p.Val1941=)
|
rs768223980
|
0.00002
|
NM_033056.4(PCDH15):c.5862A>G (p.Ser1954=)
|
rs755165199
|
0.00002
|
NM_001384140.1(PCDH15):c.1086T>C (p.Asp362=)
|
rs1436469517
|
0.00001
|
NM_001384140.1(PCDH15):c.1116T>G (p.Gly372=)
|
rs764072223
|
0.00001
|
NM_001384140.1(PCDH15):c.1137C>T (p.Ala379=)
|
rs775537342
|
0.00001
|
NM_001384140.1(PCDH15):c.1179A>G (p.Pro393=)
|
rs1484114119
|
0.00001
|
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=)
|
rs1427922641
|
0.00001
|
NM_001384140.1(PCDH15):c.1306-20G>A
|
rs531081800
|
0.00001
|
NM_001384140.1(PCDH15):c.1306-4111A>C
|
rs78392377
|
0.00001
|
NM_001384140.1(PCDH15):c.1317A>G (p.Pro439=)
|
rs768151894
|
0.00001
|
NM_001384140.1(PCDH15):c.1320G>A (p.Glu440=)
|
rs947826570
|
0.00001
|
NM_001384140.1(PCDH15):c.1326C>T (p.His442=)
|
rs1178465560
|
0.00001
|
NM_001384140.1(PCDH15):c.1353C>G (p.Val451=)
|
rs1207824945
|
0.00001
|
NM_001384140.1(PCDH15):c.1359C>T (p.Thr453=)
|
rs757027490
|
0.00001
|
NM_001384140.1(PCDH15):c.1377T>C (p.Ile459=)
|
rs763593526
|
0.00001
|
NM_001384140.1(PCDH15):c.1440+7A>C
|
rs540070936
|
0.00001
|
NM_001384140.1(PCDH15):c.1441-7C>T
|
rs1157557398
|
0.00001
|
NM_001384140.1(PCDH15):c.1449A>C (p.Ala483=)
|
rs1190323123
|
0.00001
|
NM_001384140.1(PCDH15):c.1506A>G (p.Ala502=)
|
rs1471744351
|
0.00001
|
NM_001384140.1(PCDH15):c.1524C>G (p.Thr508=)
|
rs778822897
|
0.00001
|
NM_001384140.1(PCDH15):c.158-8G>T
|
rs1948836091
|
0.00001
|
NM_001384140.1(PCDH15):c.1590+10C>T
|
rs761683339
|
0.00001
|
NM_001384140.1(PCDH15):c.1596T>C (p.Thr532=)
|
rs367850244
|
0.00001
|
NM_001384140.1(PCDH15):c.1605C>T (p.Asp535=)
|
rs370348265
|
0.00001
|
NM_001384140.1(PCDH15):c.1611C>T (p.Asp537=)
|
rs771243891
|
0.00001
|
NM_001384140.1(PCDH15):c.1647T>C (p.Leu549=)
|
rs764794030
|
0.00001
|
NM_001384140.1(PCDH15):c.1701C>T (p.Ile567=)
|
rs773444573
|
0.00001
|
NM_001384140.1(PCDH15):c.1773T>C (p.Pro591=)
|
rs1178375441
|
0.00001
|
NM_001384140.1(PCDH15):c.1780C>A (p.Arg594=)
|
rs1252259548
|
0.00001
|
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)
|
rs200226791
|
0.00001
|
NM_001384140.1(PCDH15):c.183G>T (p.Leu61=)
|
rs1756531469
|
0.00001
|
NM_001384140.1(PCDH15):c.1917+12G>A
|
rs1305592136
|
0.00001
|
NM_001384140.1(PCDH15):c.1918-15G>A
|
rs2094574689
|
0.00001
|
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=)
|
rs777099546
|
0.00001
|
NM_001384140.1(PCDH15):c.2001G>C (p.Thr667=)
|
rs200699443
|
0.00001
|
NM_001384140.1(PCDH15):c.2013C>T (p.Thr671=)
|
rs374838856
|
0.00001
|
NM_001384140.1(PCDH15):c.2056C>T (p.Leu686=)
|
rs779268739
|
0.00001
|
NM_001384140.1(PCDH15):c.2067A>G (p.Thr689=)
|
rs538304958
|
0.00001
|
NM_001384140.1(PCDH15):c.2091+8T>C
|
rs752225683
|
0.00001
|
NM_001384140.1(PCDH15):c.2092-6T>C
|
rs780684363
|
0.00001
|
NM_001384140.1(PCDH15):c.213C>T (p.Pro71=)
|
rs747462579
|
0.00001
|
NM_001384140.1(PCDH15):c.2196C>T (p.Ala732=)
|
rs770332994
|
0.00001
|
NM_001384140.1(PCDH15):c.2202C>T (p.Ala734=)
|
rs201636125
|
0.00001
|
NM_001384140.1(PCDH15):c.2221-9A>T
|
rs1338617951
|
0.00001
|
NM_001384140.1(PCDH15):c.2247T>C (p.Asn749=)
|
rs1391947503
|
0.00001
|
NM_001384140.1(PCDH15):c.2250T>A (p.Gly750=)
|
rs1452282788
|
0.00001
|
NM_001384140.1(PCDH15):c.2292T>C (p.Arg764=)
|
rs1240219060
|
0.00001
|
NM_001384140.1(PCDH15):c.2316C>T (p.Tyr772=)
|
rs756048474
|
0.00001
|
NM_001384140.1(PCDH15):c.2385A>G (p.Ala795=)
|
rs61731362
|
0.00001
|
NM_001384140.1(PCDH15):c.2391C>T (p.His797=)
|
rs748017277
|
0.00001
|
NM_001384140.1(PCDH15):c.2400T>C (p.His800=)
|
rs1400103823
|
0.00001
|
NM_001384140.1(PCDH15):c.2407C>T (p.Leu803=)
|
rs1346492808
|
0.00001
|
NM_001384140.1(PCDH15):c.2526+9G>A
|
rs1415249620
|
0.00001
|
NM_001384140.1(PCDH15):c.2527-4A>T
|
rs778122810
|
0.00001
|
NM_001384140.1(PCDH15):c.2616A>G (p.Gly872=)
|
rs1254338106
|
0.00001
|
NM_001384140.1(PCDH15):c.2622A>G (p.Leu874=)
|
rs1419751426
|
0.00001
|
NM_001384140.1(PCDH15):c.2649G>A (p.Glu883=)
|
rs779197038
|
0.00001
|
NM_001384140.1(PCDH15):c.2679T>G (p.Thr893=)
|
rs1312818254
|
0.00001
|
NM_001384140.1(PCDH15):c.2685G>C (p.Leu895=)
|
rs759471464
|
0.00001
|
NM_001384140.1(PCDH15):c.2691G>A (p.Glu897=)
|
rs876657952
|
0.00001
|
NM_001384140.1(PCDH15):c.2709A>G (p.Gly903=)
|
rs886047064
|
0.00001
|
NM_001384140.1(PCDH15):c.27A>G (p.Thr9=)
|
rs1178626838
|
0.00001
|
NM_001384140.1(PCDH15):c.2817A>C (p.Ala939=)
|
rs763397647
|
0.00001
|
NM_001384140.1(PCDH15):c.2856T>C (p.Asp952=)
|
rs187811627
|
0.00001
|
NM_001384140.1(PCDH15):c.2979T>C (p.Asn993=)
|
rs1244022175
|
0.00001
|
NM_001384140.1(PCDH15):c.3010-15T>G
|
rs777943892
|
0.00001
|
NM_001384140.1(PCDH15):c.3010-19A>G
|
rs1377927467
|
0.00001
|
NM_001384140.1(PCDH15):c.3010-7T>C
|
rs781753578
|
0.00001
|
NM_001384140.1(PCDH15):c.3042T>C (p.Pro1014=)
|
rs775306686
|
0.00001
|
NM_001384140.1(PCDH15):c.3069G>A (p.Lys1023=)
|
rs769983940
|
0.00001
|
NM_001384140.1(PCDH15):c.319-18G>A
|
rs761263266
|
0.00001
|
NM_001384140.1(PCDH15):c.3228A>G (p.Glu1076=)
|
rs1437741307
|
0.00001
|
NM_001384140.1(PCDH15):c.324G>A (p.Pro108=)
|
rs778801885
|
0.00001
|
NM_001384140.1(PCDH15):c.3252C>T (p.Asn1084=)
|
rs995360945
|
0.00001
|
NM_001384140.1(PCDH15):c.3276T>C (p.Asn1092=)
|
rs772160626
|
0.00001
|
NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=)
|
rs749666237
|
0.00001
|
NM_001384140.1(PCDH15):c.3309T>C (p.Tyr1103=)
|
rs769295133
|
0.00001
|
NM_001384140.1(PCDH15):c.3321C>G (p.Val1107=)
|
rs371025094
|
0.00001
|
NM_001384140.1(PCDH15):c.3324A>G (p.Gln1108=)
|
rs377530500
|
0.00001
|
NM_001384140.1(PCDH15):c.3339A>G (p.Glu1113=)
|
rs2085802583
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+8A>T
|
rs2085798721
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+9T>C
|
rs747731752
|
0.00001
|
NM_001384140.1(PCDH15):c.3374-19A>G
|
rs1459198722
|
0.00001
|
NM_001384140.1(PCDH15):c.3374-7C>T
|
rs377480411
|
0.00001
|
NM_001384140.1(PCDH15):c.3444C>T (p.Phe1148=)
|
rs876657562
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+13A>G
|
rs727503365
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+20T>C
|
rs762512156
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+7G>T
|
rs756402556
|
0.00001
|
NM_001384140.1(PCDH15):c.3502-14T>C
|
rs575971829
|
0.00001
|
NM_001384140.1(PCDH15):c.3502-7C>T
|
rs757876538
|
0.00001
|
NM_001384140.1(PCDH15):c.3522C>A (p.Gly1174=)
|
rs753725514
|
0.00001
|
NM_001384140.1(PCDH15):c.3528T>C (p.Tyr1176=)
|
rs371200381
|
0.00001
|
NM_001384140.1(PCDH15):c.3627C>T (p.Leu1209=)
|
rs1400536456
|
0.00001
|
NM_001384140.1(PCDH15):c.3654C>T (p.Phe1218=)
|
rs1439589955
|
0.00001
|
NM_001384140.1(PCDH15):c.3657G>A (p.Lys1219=)
|
rs1240620059
|
0.00001
|
NM_001384140.1(PCDH15):c.3678C>T (p.Asp1226=)
|
rs769900736
|
0.00001
|
NM_001384140.1(PCDH15):c.3718-10C>T
|
rs919380715
|
0.00001
|
NM_001384140.1(PCDH15):c.3840T>C (p.Pro1280=)
|
rs1304146421
|
0.00001
|
NM_001384140.1(PCDH15):c.3900A>G (p.Leu1300=)
|
rs1431942619
|
0.00001
|
NM_001384140.1(PCDH15):c.3927T>C (p.Thr1309=)
|
rs1165789834
|
0.00001
|
NM_001384140.1(PCDH15):c.3933T>C (p.Tyr1311=)
|
rs141008938
|
0.00001
|
NM_001384140.1(PCDH15):c.393T>C (p.His131=)
|
rs1490765892
|
0.00001
|
NM_001384140.1(PCDH15):c.3963C>T (p.Ile1321=)
|
rs781522540
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+9T>C
|
rs982615149
|
0.00001
|
NM_001384140.1(PCDH15):c.3984-7A>T
|
rs780118478
|
0.00001
|
NM_001384140.1(PCDH15):c.402A>G (p.Arg134=)
|
rs368763164
|
0.00001
|
NM_001384140.1(PCDH15):c.4077A>G (p.Ala1359=)
|
rs140813069
|
0.00001
|
NM_001384140.1(PCDH15):c.4158C>G (p.Leu1386=)
|
rs1253422113
|
0.00001
|
NM_001384140.1(PCDH15):c.4161C>T (p.Cys1387=)
|
rs1285582987
|
0.00001
|
NM_001384140.1(PCDH15):c.4177T>C (p.Leu1393=)
|
rs1464924888
|
0.00001
|
NM_001384140.1(PCDH15):c.4202+10C>T
|
rs957748149
|
0.00001
|
NM_001384140.1(PCDH15):c.4202+13G>C
|
rs1443233585
|
0.00001
|
NM_001384140.1(PCDH15):c.4203-7C>T
|
rs1209357687
|
0.00001
|
NM_001384140.1(PCDH15):c.4260C>T (p.Pro1420=)
|
rs775658931
|
0.00001
|
NM_001384140.1(PCDH15):c.4275A>T (p.Ala1425=)
|
rs774100942
|
0.00001
|
NM_001384140.1(PCDH15):c.4290A>T (p.Ala1430=)
|
rs1472367791
|
0.00001
|
NM_001384140.1(PCDH15):c.429C>T (p.Asn143=)
|
rs772672479
|
0.00001
|
NM_001384140.1(PCDH15):c.4335G>A (p.Ala1445=)
|
rs570557379
|
0.00001
|
NM_001384140.1(PCDH15):c.4367+8G>A
|
rs727504745
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3135T>C
|
rs1252455330
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3136C>G
|
rs1280849622
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3138T>G
|
rs1270575255
|
0.00001
|
NM_001384140.1(PCDH15):c.4671+1192C>T
|
rs935682630
|
0.00001
|
NM_001384140.1(PCDH15):c.4671+1624G>A
|
rs1285905443
|
0.00001
|
NM_001384140.1(PCDH15):c.636A>G (p.Gly212=)
|
rs1414757654
|
0.00001
|
NM_001384140.1(PCDH15):c.675G>A (p.Lys225=)
|
rs1403705158
|
0.00001
|
NM_001384140.1(PCDH15):c.714C>G (p.Ala238=)
|
rs1366085441
|
0.00001
|
NM_001384140.1(PCDH15):c.73T>C (p.Leu25=)
|
rs749697716
|
0.00001
|
NM_001384140.1(PCDH15):c.783G>A (p.Leu261=)
|
rs757883412
|
0.00001
|
NM_001384140.1(PCDH15):c.789A>G (p.Pro263=)
|
rs1221887715
|
0.00001
|
NM_001384140.1(PCDH15):c.816A>G (p.Pro272=)
|
rs1351980562
|
0.00001
|
NM_001384140.1(PCDH15):c.876+10C>T
|
rs778754722
|
0.00001
|
NM_001384140.1(PCDH15):c.978C>T (p.Ile326=)
|
rs563269633
|
0.00001
|
NM_001384140.1(PCDH15):c.985+6dup
|
rs777491892
|
0.00001
|
NM_033056.4(PCDH15):c.4431A>G (p.Lys1477=)
|
rs756871318
|
0.00001
|
NM_033056.4(PCDH15):c.4509G>A (p.Lys1503=)
|
rs905422262
|
0.00001
|
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=)
|
rs200141161
|
0.00001
|
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=)
|
rs727504070
|
0.00001
|
NM_033056.4(PCDH15):c.4632G>A (p.Gln1544=)
|
rs2076412292
|
0.00001
|
NM_033056.4(PCDH15):c.4698A>G (p.Pro1566=)
|
rs747777278
|
0.00001
|
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=)
|
rs372095792
|
0.00001
|
NM_033056.4(PCDH15):c.4797G>A (p.Gln1599=)
|
rs563147370
|
0.00001
|
NM_033056.4(PCDH15):c.4836T>C (p.Thr1612=)
|
rs777727173
|
0.00001
|
NM_033056.4(PCDH15):c.4845T>C (p.Cys1615=)
|
rs1367656585
|
0.00001
|
NM_033056.4(PCDH15):c.4893A>G (p.Ala1631=)
|
rs776916605
|
0.00001
|
NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs)
|
rs748611625
|
0.00001
|
NM_033056.4(PCDH15):c.4968C>T (p.Leu1656=)
|
rs750443683
|
0.00001
|
NM_033056.4(PCDH15):c.4977C>T (p.Asp1659=)
|
rs1554820407
|
0.00001
|
NM_033056.4(PCDH15):c.5028T>A (p.Thr1676=)
|
rs775752587
|
0.00001
|
NM_033056.4(PCDH15):c.5115T>C (p.Pro1705=)
|
rs2076366066
|
0.00001
|
NM_033056.4(PCDH15):c.5124_5136del (p.Leu1708fs)
|
rs748573572
|
0.00001
|
NM_033056.4(PCDH15):c.5253T>C (p.Pro1751=)
|
rs1393186965
|
0.00001
|
NM_033056.4(PCDH15):c.5256T>A (p.Pro1752=)
|
rs761798683
|
0.00001
|
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=)
|
rs727503362
|
0.00001
|
NM_033056.4(PCDH15):c.5367T>G (p.Pro1789=)
|
rs770691111
|
0.00001
|
NM_033056.4(PCDH15):c.5394T>G (p.Leu1798=)
|
rs771831842
|
0.00001
|
NM_033056.4(PCDH15):c.5595A>G (p.Leu1865=)
|
rs555529578
|
0.00001
|
NM_033056.4(PCDH15):c.5604G>A (p.Thr1868=)
|
rs747596359
|
0.00001
|
NM_033056.4(PCDH15):c.5655C>T (p.His1885=)
|
rs758953502
|
0.00001
|
NM_033056.4(PCDH15):c.5748A>G (p.Gln1916=)
|
rs753023544
|
0.00001
|
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)
|
rs727504069
|
0.00001
|
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)
|
rs1457208099
|
0.00001
|
NC_000010.11:g.53831308TACT[3]
|
|
|
NC_000010.11:g.53840315CTTA[3]
|
|
|
NM_001384140.1(PCDH15):c.1002C>T (p.Tyr334=)
|
|
|
NM_001384140.1(PCDH15):c.1006C>A (p.Arg336=)
|
|
|
NM_001384140.1(PCDH15):c.1008A>G (p.Arg336=)
|
|
|
NM_001384140.1(PCDH15):c.1047C>A (p.Leu349=)
|
|
|
NM_001384140.1(PCDH15):c.1047C>G (p.Leu349=)
|
|
|
NM_001384140.1(PCDH15):c.1050G>A (p.Leu350=)
|
|
|
NM_001384140.1(PCDH15):c.1056A>G (p.Pro352=)
|
|
|
NM_001384140.1(PCDH15):c.1059A>G (p.Val353=)
|
|
|
NM_001384140.1(PCDH15):c.1068C>T (p.Asp356=)
|
|
|
NM_001384140.1(PCDH15):c.1074C>T (p.His358=)
|
|
|
NM_001384140.1(PCDH15):c.1087T>C (p.Leu363=)
|
|
|
NM_001384140.1(PCDH15):c.1095T>C (p.Ile365=)
|
rs2051718818
|
|
NM_001384140.1(PCDH15):c.1098+13A>T
|
|
|
NM_001384140.1(PCDH15):c.1098+18C>T
|
|
|
NM_001384140.1(PCDH15):c.1098+7T>C
|
|
|
NM_001384140.1(PCDH15):c.1099-11_1099-10del
|
rs2133925954
|
|
NM_001384140.1(PCDH15):c.1099-14C>T
|
|
|
NM_001384140.1(PCDH15):c.1099-15T>C
|
|
|
NM_001384140.1(PCDH15):c.1099-16T>C
|
|
|
NM_001384140.1(PCDH15):c.1099-19C>A
|
rs771313944
|
|
NM_001384140.1(PCDH15):c.1099-19C>G
|
rs771313944
|
|
NM_001384140.1(PCDH15):c.1099-19C>T
|
|
|
NM_001384140.1(PCDH15):c.1099-23TTTTC[2]
|
rs757918163
|
|
NM_001384140.1(PCDH15):c.1099-5T>G
|
|
|
NM_001384140.1(PCDH15):c.1101T>C (p.Ala367=)
|
|
|
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=)
|
rs1315291067
|
|
NM_001384140.1(PCDH15):c.1146C>T (p.His382=)
|
rs773302482
|
|
NM_001384140.1(PCDH15):c.1170T>C (p.Asn390=)
|
rs1329583537
|
|
NM_001384140.1(PCDH15):c.1182T>C (p.Tyr394=)
|
rs2133924711
|
|
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg)
|
rs199786639
|
|
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly)
|
rs199786639
|
|
NM_001384140.1(PCDH15):c.1215G>A (p.Leu405=)
|
|
|
NM_001384140.1(PCDH15):c.1218A>G (p.Glu406=)
|
rs1391412746
|
|
NM_001384140.1(PCDH15):c.1224C>T (p.Ala408=)
|
|
|
NM_001384140.1(PCDH15):c.1275A>G (p.Arg425=)
|
|
|
NM_001384140.1(PCDH15):c.1281A>C (p.Val427=)
|
|
|
NM_001384140.1(PCDH15):c.1281A>G (p.Val427=)
|
|
|
NM_001384140.1(PCDH15):c.1284T>G (p.Ala428=)
|
|
|
NM_001384140.1(PCDH15):c.1287G>A (p.Leu429=)
|
|
|
NM_001384140.1(PCDH15):c.1290C>T (p.Asp430=)
|
|
|
NM_001384140.1(PCDH15):c.12G>A (p.Gln4=)
|
|
|
NM_001384140.1(PCDH15):c.1304_1305delinsCC (p.Asp435Ala)
|
rs2133923367
|
|
NM_001384140.1(PCDH15):c.1305+11T>C
|
|
|
NM_001384140.1(PCDH15):c.1305+3_1305+6dup
|
|
|
NM_001384140.1(PCDH15):c.1306-11T>C
|
|
|
NM_001384140.1(PCDH15):c.1306-11T>G
|
|
|
NM_001384140.1(PCDH15):c.1306-13T>C
|
rs1301789219
|
|
NM_001384140.1(PCDH15):c.1306-14A>T
|
|
|
NM_001384140.1(PCDH15):c.1306-14del
|
|
|
NM_001384140.1(PCDH15):c.1306-4110C>T
|
rs749675729
|
|
NM_001384140.1(PCDH15):c.1306-8T>G
|
rs1351277416
|
|
NM_001384140.1(PCDH15):c.1306-9T>C
|
|
|
NM_001384140.1(PCDH15):c.1314C>T (p.Asp438=)
|
rs2048386407
|
|
NM_001384140.1(PCDH15):c.1338T>C (p.Asn446=)
|
rs1461685230
|
|
NM_001384140.1(PCDH15):c.1344C>T (p.Tyr448=)
|
rs2133818301
|
|
NM_001384140.1(PCDH15):c.1347C>T (p.Thr449=)
|
rs778642329
|
|
NM_001384140.1(PCDH15):c.1353C>A (p.Val451=)
|
|
|
NM_001384140.1(PCDH15):c.1365A>G (p.Thr455=)
|
rs143772634
|
|
NM_001384140.1(PCDH15):c.1368G>A (p.Gln456=)
|
rs1362893430
|
|
NM_001384140.1(PCDH15):c.1392C>T (p.Thr464=)
|
|
|
NM_001384140.1(PCDH15):c.1404A>G (p.Pro468=)
|
rs2133817644
|
|
NM_001384140.1(PCDH15):c.1416A>G (p.Glu472=)
|
rs2133817550
|
|
NM_001384140.1(PCDH15):c.1422G>A (p.Gln474=)
|
|
|
NM_001384140.1(PCDH15):c.1425A>G (p.Gln475=)
|
rs2133817445
|
|
NM_001384140.1(PCDH15):c.1428T>G (p.Thr476=)
|
|
|
NM_001384140.1(PCDH15):c.1440+13T>G
|
|
|
NM_001384140.1(PCDH15):c.1440+14G>A
|
|
|
NM_001384140.1(PCDH15):c.1440+14G>C
|
|
|
NM_001384140.1(PCDH15):c.1440+17T>C
|
|
|
NM_001384140.1(PCDH15):c.1440+8G>A
|
rs991079651
|
|
NM_001384140.1(PCDH15):c.1441-10C>T
|
|
|
NM_001384140.1(PCDH15):c.1441-11T>C
|
|
|
NM_001384140.1(PCDH15):c.1441-12C>G
|
|
|
NM_001384140.1(PCDH15):c.1441-13T>C
|
|
|
NM_001384140.1(PCDH15):c.1441-17T>G
|
|
|
NM_001384140.1(PCDH15):c.1441-8T>C
|
|
|
NM_001384140.1(PCDH15):c.1441-9C>T
|
|
|
NM_001384140.1(PCDH15):c.1446A>T (p.Thr482=)
|
|
|
NM_001384140.1(PCDH15):c.1449A>T (p.Ala483=)
|
rs1190323123
|
|
NM_001384140.1(PCDH15):c.1458T>A (p.Gly486=)
|
rs894911417
|
|
NM_001384140.1(PCDH15):c.1461A>G (p.Val487=)
|
|
|
NM_001384140.1(PCDH15):c.1470T>C (p.Ser490=)
|
|
|
NM_001384140.1(PCDH15):c.1473G>A (p.Glu491=)
|
rs1033868869
|
|
NM_001384140.1(PCDH15):c.1482C>T (p.Ile494=)
|
rs1402828073
|
|
NM_001384140.1(PCDH15):c.1515C>T (p.Asn505=)
|
rs1445354219
|
|
NM_001384140.1(PCDH15):c.1518G>C (p.Thr506=)
|
rs141416774
|
|
NM_001384140.1(PCDH15):c.1518G>T (p.Thr506=)
|
rs141416774
|
|
NM_001384140.1(PCDH15):c.1521A>G (p.Pro507=)
|
rs1209765760
|
|
NM_001384140.1(PCDH15):c.1533A>G (p.Glu511=)
|
rs2133800421
|
|
NM_001384140.1(PCDH15):c.1539C>T (p.Ser513=)
|
|
|
NM_001384140.1(PCDH15):c.1542T>C (p.Tyr514=)
|
|
|
NM_001384140.1(PCDH15):c.1545T>C (p.Asp515=)
|
rs2133800266
|
|
NM_001384140.1(PCDH15):c.1551T>C (p.Tyr517=)
|
|
|
NM_001384140.1(PCDH15):c.1557T>C (p.Tyr519=)
|
rs767134941
|
|
NM_001384140.1(PCDH15):c.1560A>G (p.Thr520=)
|
rs1246834006
|
|
NM_001384140.1(PCDH15):c.1575G>C (p.Gly525=)
|
rs2048195293
|
|
NM_001384140.1(PCDH15):c.158-10T>G
|
rs2135028305
|
|
NM_001384140.1(PCDH15):c.158-13C>T
|
|
|
NM_001384140.1(PCDH15):c.158-14T>C
|
|
|
NM_001384140.1(PCDH15):c.158-15T>C
|
|
|
NM_001384140.1(PCDH15):c.158-4G>T
|
|
|
NM_001384140.1(PCDH15):c.158-8G>C
|
|
|
NM_001384140.1(PCDH15):c.158-9G>C
|
rs2135028247
|
|
NM_001384140.1(PCDH15):c.158-9G>T
|
|
|
NM_001384140.1(PCDH15):c.1590+12C>T
|
|
|
NM_001384140.1(PCDH15):c.1590+20A>C
|
rs7093302
|
|
NM_001384140.1(PCDH15):c.1590+8C>G
|
|
|
NM_001384140.1(PCDH15):c.1591-11T>C
|
|
|
NM_001384140.1(PCDH15):c.1591-14A>C
|
|
|
NM_001384140.1(PCDH15):c.1591-16T>C
|
|
|
NM_001384140.1(PCDH15):c.1591-19T>C
|
|
|
NM_001384140.1(PCDH15):c.1593C>T (p.Leu531=)
|
|
|
NM_001384140.1(PCDH15):c.1602C>T (p.Val534=)
|
rs201215741
|
|
NM_001384140.1(PCDH15):c.1614A>G (p.Glu538=)
|
|
|
NM_001384140.1(PCDH15):c.1617G>A (p.Gly539=)
|
|
|
NM_001384140.1(PCDH15):c.1623T>C (p.Asn541=)
|
|
|
NM_001384140.1(PCDH15):c.1626G>A (p.Gly542=)
|
|
|
NM_001384140.1(PCDH15):c.1629G>A (p.Glu543=)
|
rs2133339416
|
|
NM_001384140.1(PCDH15):c.162A>G (p.Thr54=)
|
|
|
NM_001384140.1(PCDH15):c.1635A>G (p.Thr545=)
|
|
|
NM_001384140.1(PCDH15):c.1644C>T (p.Ile548=)
|
|
|
NM_001384140.1(PCDH15):c.1656T>A (p.Ala552=)
|
|
|
NM_001384140.1(PCDH15):c.1665C>T (p.Asp555=)
|
|
|
NM_001384140.1(PCDH15):c.1671C>T (p.Ile557=)
|
|
|
NM_001384140.1(PCDH15):c.1683A>G (p.Thr561=)
|
rs2133338631
|
|
NM_001384140.1(PCDH15):c.1686A>G (p.Thr562=)
|
|
|
NM_001384140.1(PCDH15):c.1689G>A (p.Gly563=)
|
|
|
NM_001384140.1(PCDH15):c.168G>A (p.Leu56=)
|
|
|
NM_001384140.1(PCDH15):c.168G>T (p.Leu56=)
|
rs2135027373
|
|
NM_001384140.1(PCDH15):c.1692T>C (p.Leu564=)
|
rs2133338491
|
|
NM_001384140.1(PCDH15):c.1695C>T (p.Ile565=)
|
rs1404017386
|
|
NM_001384140.1(PCDH15):c.1698C>T (p.Thr566=)
|
|
|
NM_001384140.1(PCDH15):c.1704T>C (p.Ala568=)
|
|
|
NM_001384140.1(PCDH15):c.1710G>T (p.Gly570=)
|
|
|
NM_001384140.1(PCDH15):c.1713G>A (p.Val571=)
|
rs2044717640
|
|
NM_001384140.1(PCDH15):c.1722A>C (p.Ile574=)
|
|
|
NM_001384140.1(PCDH15):c.1725C>A (p.Val575=)
|
rs748995667
|
|
NM_001384140.1(PCDH15):c.1725C>G (p.Val575=)
|
|
|
NM_001384140.1(PCDH15):c.1729C>A (p.Arg577=)
|
|
|
NM_001384140.1(PCDH15):c.1731G>A (p.Arg577=)
|
rs2044713955
|
|
NM_001384140.1(PCDH15):c.1734T>A (p.Thr578=)
|
rs2044713197
|
|
NM_001384140.1(PCDH15):c.1737C>T (p.Tyr579=)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1746G>C (p.Thr582=)
|
rs2044710188
|
|
NM_001384140.1(PCDH15):c.1746G>T (p.Thr582=)
|
rs2044710188
|
|
NM_001384140.1(PCDH15):c.1752A>G (p.Gln584=)
|
|
|
NM_001384140.1(PCDH15):c.1755A>G (p.Ala585=)
|
rs1463317132
|
|
NM_001384140.1(PCDH15):c.1758G>A (p.Ala586=)
|
|
|
NM_001384140.1(PCDH15):c.1758G>T (p.Ala586=)
|
rs2044708589
|
|
NM_001384140.1(PCDH15):c.1764T>C (p.Asn588=)
|
|
|
NM_001384140.1(PCDH15):c.1770T>A (p.Pro590=)
|
rs2133336602
|
|
NM_001384140.1(PCDH15):c.1773T>G (p.Pro591=)
|
|
|
NM_001384140.1(PCDH15):c.1784+10A>G
|
rs1259252505
|
|
NM_001384140.1(PCDH15):c.1784+11T>G
|
rs769008985
|
|
NM_001384140.1(PCDH15):c.1784+13A>G
|
|
|
NM_001384140.1(PCDH15):c.1784+14G>C
|
|
|
NM_001384140.1(PCDH15):c.1784+16A>T
|
|
|
NM_001384140.1(PCDH15):c.1784+18C>A
|
|
|
NM_001384140.1(PCDH15):c.1784+18C>G
|
|
|
NM_001384140.1(PCDH15):c.1784+9T>C
|
rs2044704583
|
|
NM_001384140.1(PCDH15):c.1785-10T>C
|
rs760677789
|
|
NM_001384140.1(PCDH15):c.1785-12C>G
|
rs764181350
|
|
NM_001384140.1(PCDH15):c.1785-14C>T
|
|
|
NM_001384140.1(PCDH15):c.1785-22_1785-20del
|
|
|
NM_001384140.1(PCDH15):c.1785-5T>C
|
rs2133062271
|
|
NM_001384140.1(PCDH15):c.1785-6C>A
|
rs1362278878
|
|
NM_001384140.1(PCDH15):c.1785-6C>G
|
rs1362278878
|
|
NM_001384140.1(PCDH15):c.1785-8C>A
|
|
|
NM_001384140.1(PCDH15):c.1785-8C>T
|
|
|
NM_001384140.1(PCDH15):c.1794C>A (p.Ile598=)
|
|
|
NM_001384140.1(PCDH15):c.1800T>A (p.Thr600=)
|
|
|
NM_001384140.1(PCDH15):c.1809T>C (p.Ile603=)
|
rs774896441
|
|
NM_001384140.1(PCDH15):c.181C>T (p.Leu61=)
|
|
|
NM_001384140.1(PCDH15):c.1836C>T (p.Ser612=)
|
rs200226791
|
|
NM_001384140.1(PCDH15):c.1845C>T (p.Arg615=)
|
rs2042567727
|
|
NM_001384140.1(PCDH15):c.1857G>C (p.Leu619=)
|
rs2133061046
|
|
NM_001384140.1(PCDH15):c.1866C>T (p.Ser622=)
|
|
|
NM_001384140.1(PCDH15):c.186C>A (p.Ile62=)
|
|
|
NM_001384140.1(PCDH15):c.186C>T (p.Ile62=)
|
rs1304029741
|
|
NM_001384140.1(PCDH15):c.1884C>A (p.Ala628=)
|
|
|
NM_001384140.1(PCDH15):c.1890G>A (p.Arg630=)
|
|
|
NM_001384140.1(PCDH15):c.1899T>C (p.Ala633=)
|
rs1418804415
|
|
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=)
|
rs1554940478
|
|
NM_001384140.1(PCDH15):c.1908A>G (p.Leu636=)
|
|
|
NM_001384140.1(PCDH15):c.1917+11T>C
|
|
|
NM_001384140.1(PCDH15):c.1917+11T>G
|
|
|
NM_001384140.1(PCDH15):c.1917+13G>A
|
|
|
NM_001384140.1(PCDH15):c.1917+14T>G
|
|
|
NM_001384140.1(PCDH15):c.1917+19_1917+20insGTGTGTGGGTGT
|
|
|
NM_001384140.1(PCDH15):c.1917+7T>A
|
|
|
NM_001384140.1(PCDH15):c.1917+8C>A
|
rs747671187
|
|
NM_001384140.1(PCDH15):c.1917+9C>T
|
|
|
NM_001384140.1(PCDH15):c.1918-15G>C
|
|
|
NM_001384140.1(PCDH15):c.1918-20A>T
|
|
|
NM_001384140.1(PCDH15):c.1918-8C>T
|
rs2136050318
|
|
NM_001384140.1(PCDH15):c.192G>A (p.Gly64=)
|
|
|
NM_001384140.1(PCDH15):c.1938C>T (p.Asp646=)
|
|
|
NM_001384140.1(PCDH15):c.1950T>C (p.Tyr650=)
|
|
|
NM_001384140.1(PCDH15):c.1953C>T (p.Ala651=)
|
rs2136049828
|
|
NM_001384140.1(PCDH15):c.195T>A (p.Thr65=)
|
rs770371293
|
|
NM_001384140.1(PCDH15):c.1968T>C (p.Asp656=)
|
|
|
NM_001384140.1(PCDH15):c.1997+14G>T
|
|
|
NM_001384140.1(PCDH15):c.1997+17T>C
|
|
|
NM_001384140.1(PCDH15):c.1998-13G>C
|
|
|
NM_001384140.1(PCDH15):c.1998-13G>T
|
|
|
NM_001384140.1(PCDH15):c.1998-15T>C
|
|
|
NM_001384140.1(PCDH15):c.1998-21GTTT[2]
|
rs763135922
|
|
NM_001384140.1(PCDH15):c.1998-21GTTT[4]
|
|
|
NM_001384140.1(PCDH15):c.1998-4del
|
|
|
NM_001384140.1(PCDH15):c.1998-5A>G
|
|
|
NM_001384140.1(PCDH15):c.1998-5A>T
|
rs2094400725
|
|
NM_001384140.1(PCDH15):c.1998-8G>T
|
rs2135948339
|
|
NM_001384140.1(PCDH15):c.2004G>A (p.Gly668=)
|
rs759092602
|
|
NM_001384140.1(PCDH15):c.2007T>C (p.Ile669=)
|
|
|
NM_001384140.1(PCDH15):c.2025A>T (p.Ala675=)
|
|
|
NM_001384140.1(PCDH15):c.2031C>T (p.Asp677=)
|
|
|
NM_001384140.1(PCDH15):c.2032A>C (p.Arg678=)
|
rs962705628
|
|
NM_001384140.1(PCDH15):c.2034G>A (p.Arg678=)
|
rs2135947809
|
|
NM_001384140.1(PCDH15):c.2043T>C (p.Thr681=)
|
|
|
NM_001384140.1(PCDH15):c.2046T>C (p.Asp682=)
|
rs769742711
|
|
NM_001384140.1(PCDH15):c.2058G>A (p.Leu686=)
|
rs1443886675
|
|
NM_001384140.1(PCDH15):c.2058G>C (p.Leu686=)
|
|
|
NM_001384140.1(PCDH15):c.2058G>T (p.Leu686=)
|
|
|
NM_001384140.1(PCDH15):c.2064C>A (p.Ile688=)
|
|
|
NM_001384140.1(PCDH15):c.2064C>T (p.Ile688=)
|
rs1376089788
|
|
NM_001384140.1(PCDH15):c.2088T>C (p.Asp696=)
|
|
|
NM_001384140.1(PCDH15):c.2091+14C>T
|
|
|
NM_001384140.1(PCDH15):c.2091+7A>C
|
|
|
NM_001384140.1(PCDH15):c.2091+7A>G
|
rs2094398205
|
|
NM_001384140.1(PCDH15):c.2092-12T>G
|
|
|
NM_001384140.1(PCDH15):c.2092-15G>A
|
|
|
NM_001384140.1(PCDH15):c.2092-7C>T
|
rs748605459
|
|
NM_001384140.1(PCDH15):c.2100T>C (p.Thr700=)
|
|
|
NM_001384140.1(PCDH15):c.2106A>G (p.Thr702=)
|
|
|
NM_001384140.1(PCDH15):c.2124A>G (p.Thr708=)
|
rs2135811171
|
|
NM_001384140.1(PCDH15):c.2130C>T (p.Val710=)
|
|
|
NM_001384140.1(PCDH15):c.2133T>C (p.Asn711=)
|
rs2094144870
|
|
NM_001384140.1(PCDH15):c.2142T>C (p.Ala714=)
|
|
|
NM_001384140.1(PCDH15):c.2163G>C (p.Leu721=)
|
|
|
NM_001384140.1(PCDH15):c.216C>T (p.Thr72=)
|
rs2135025544
|
|
NM_001384140.1(PCDH15):c.2178T>G (p.Ser726=)
|
rs899787874
|
|
NM_001384140.1(PCDH15):c.2184G>T (p.Val728=)
|
|
|
NM_001384140.1(PCDH15):c.2187A>G (p.Glu729=)
|
|
|
NM_001384140.1(PCDH15):c.2199T>C (p.Asn733=)
|
rs2135810339
|
|
NM_001384140.1(PCDH15):c.2217A>G (p.Val739=)
|
|
|
NM_001384140.1(PCDH15):c.2220+10A>G
|
rs2135809881
|
|
NM_001384140.1(PCDH15):c.2220+16A>G
|
|
|
NM_001384140.1(PCDH15):c.2220+18A>G
|
|
|
NM_001384140.1(PCDH15):c.2220+19T>C
|
|
|
NM_001384140.1(PCDH15):c.2220+8G>T
|
|
|
NM_001384140.1(PCDH15):c.2220+9A>G
|
rs886047065
|
|
NM_001384140.1(PCDH15):c.2221-16T>A
|
|
|
NM_001384140.1(PCDH15):c.2221-16T>C
|
|
|
NM_001384140.1(PCDH15):c.2221-17_2221-10del
|
rs779527281
|
|
NM_001384140.1(PCDH15):c.2221-5A>G
|
|
|
NM_001384140.1(PCDH15):c.2223A>T (p.Ala741=)
|
rs201332784
|
|
NM_001384140.1(PCDH15):c.2226A>G (p.Thr742=)
|
|
|
NM_001384140.1(PCDH15):c.2232T>C (p.Pro744=)
|
|
|
NM_001384140.1(PCDH15):c.2232T>G (p.Pro744=)
|
|
|
NM_001384140.1(PCDH15):c.2256G>A (p.Val752=)
|
|
|
NM_001384140.1(PCDH15):c.2271T>G (p.Gly757=)
|
rs2135323353
|
|
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=)
|
rs1565043296
|
|
NM_001384140.1(PCDH15):c.2286T>C (p.Leu762=)
|
rs1589966810
|
|
NM_001384140.1(PCDH15):c.2298A>G (p.Thr766=)
|
|
|
NM_001384140.1(PCDH15):c.2307G>A (p.Gly769=)
|
|
|
NM_001384140.1(PCDH15):c.2319A>T (p.Thr773=)
|
|
|
NM_001384140.1(PCDH15):c.2328G>A (p.Lys776=)
|
|
|
NM_001384140.1(PCDH15):c.2334C>T (p.Asn778=)
|
|
|
NM_001384140.1(PCDH15):c.2346G>A (p.Arg782=)
|
rs2135322188
|
|
NM_001384140.1(PCDH15):c.2361T>C (p.Leu787=)
|
rs2135321928
|
|
NM_001384140.1(PCDH15):c.2376A>G (p.Thr792=)
|
rs2135321649
|
|
NM_001384140.1(PCDH15):c.2382A>G (p.Gly794=)
|
rs1279344505
|
|
NM_001384140.1(PCDH15):c.2394T>C (p.Pro798=)
|
|
|
NM_001384140.1(PCDH15):c.2397T>G (p.Arg799=)
|
|
|
NM_001384140.1(PCDH15):c.2403A>G (p.Ser801=)
|
|
|
NM_001384140.1(PCDH15):c.240T>C (p.Asn80=)
|
|
|
NM_001384140.1(PCDH15):c.2421C>A (p.Ile807=)
|
|
|
NM_001384140.1(PCDH15):c.2427T>C (p.Val809=)
|
|
|
NM_001384140.1(PCDH15):c.2451T>C (p.Pro817=)
|
|
|
NM_001384140.1(PCDH15):c.2457C>T (p.Phe819=)
|
rs2135320091
|
|
NM_001384140.1(PCDH15):c.2460C>T (p.Thr820=)
|
rs2135320051
|
|
NM_001384140.1(PCDH15):c.2496G>A (p.Leu832=)
|
rs2135319547
|
|
NM_001384140.1(PCDH15):c.2502T>G (p.Ala834=)
|
|
|
NM_001384140.1(PCDH15):c.2511C>T (p.Thr837=)
|
|
|
NM_001384140.1(PCDH15):c.2514C>T (p.Ile838=)
|
rs779672469
|
|
NM_001384140.1(PCDH15):c.2526+10A>G
|
|
|
NM_001384140.1(PCDH15):c.2526+15G>A
|
|
|
NM_001384140.1(PCDH15):c.2526+17A>G
|
|
|
NM_001384140.1(PCDH15):c.2526+20T>A
|
|
|
NM_001384140.1(PCDH15):c.2526+9G>C
|
|
|
NM_001384140.1(PCDH15):c.2526+9del
|
rs2135319060
|
|
NM_001384140.1(PCDH15):c.2526+9dup
|
|
|
NM_001384140.1(PCDH15):c.2527-13C>T
|
|
|
NM_001384140.1(PCDH15):c.2527-14_2527-12del
|
|
|
NM_001384140.1(PCDH15):c.2527-16C>G
|
|
|
NM_001384140.1(PCDH15):c.2527-19A>G
|
|
|
NM_001384140.1(PCDH15):c.2527-20T>C
|
|
|
NM_001384140.1(PCDH15):c.2527-4A>G
|
rs778122810
|
|
NM_001384140.1(PCDH15):c.2527-7A>G
|
rs368267236
|
|
NM_001384140.1(PCDH15):c.2529C>A (p.Ala843=)
|
rs2135285044
|
|
NM_001384140.1(PCDH15):c.2532A>G (p.Lys844=)
|
|
|
NM_001384140.1(PCDH15):c.2544T>C (p.Leu848=)
|
rs780674525
|
|
NM_001384140.1(PCDH15):c.2547A>G (p.Gly849=)
|
|
|
NM_001384140.1(PCDH15):c.2550A>G (p.Ala850=)
|
rs140893140
|
|
NM_001384140.1(PCDH15):c.2550A>T (p.Ala850=)
|
rs140893140
|
|
NM_001384140.1(PCDH15):c.2556G>A (p.Val852=)
|
|
|
NM_001384140.1(PCDH15):c.2562C>T (p.Tyr854=)
|
rs1416481722
|
|
NM_001384140.1(PCDH15):c.2568A>T (p.Ile856=)
|
rs760300692
|
|
NM_001384140.1(PCDH15):c.258G>A (p.Leu86=)
|
rs2135024351
|
|
NM_001384140.1(PCDH15):c.2607A>G (p.Pro869=)
|
rs2135283912
|
|
NM_001384140.1(PCDH15):c.2638T>C (p.Leu880=)
|
|
|
NM_001384140.1(PCDH15):c.2664A>G (p.Gln888=)
|
rs2135282954
|
|
NM_001384140.1(PCDH15):c.2685G>A (p.Leu895=)
|
|
|
NM_001384140.1(PCDH15):c.2685G>T (p.Leu895=)
|
rs759471464
|
|
NM_001384140.1(PCDH15):c.2694C>A (p.Ala898=)
|
|
|
NM_001384140.1(PCDH15):c.2700T>C (p.Asp900=)
|
rs1589949635
|
|
NM_001384140.1(PCDH15):c.2706T>C (p.Tyr902=)
|
rs1165535726
|
|
NM_001384140.1(PCDH15):c.2712A>G (p.Thr904=)
|
|
|
NM_001384140.1(PCDH15):c.2721T>G (p.Pro907=)
|
rs727504835
|
|
NM_001384140.1(PCDH15):c.2751+10A>G
|
rs2135281452
|
|
NM_001384140.1(PCDH15):c.2751+11G>A
|
rs766479980
|
|
NM_001384140.1(PCDH15):c.2751+13G>T
|
|
|
NM_001384140.1(PCDH15):c.2751+18C>T
|
|
|
NM_001384140.1(PCDH15):c.2751+8C>T
|
rs1360011079
|
|
NM_001384140.1(PCDH15):c.2751+9dup
|
rs2135281499
|
|
NM_001384140.1(PCDH15):c.2752-13T>A
|
|
|
NM_001384140.1(PCDH15):c.2752-13T>C
|
|
|
NM_001384140.1(PCDH15):c.2752-15A>G
|
|
|
NM_001384140.1(PCDH15):c.2752-20C>T
|
|
|
NM_001384140.1(PCDH15):c.2752-6T>C
|
|
|
NM_001384140.1(PCDH15):c.2752-8T>C
|
rs1589822605
|
|
NM_001384140.1(PCDH15):c.2754T>C (p.Asp918=)
|
rs2134904496
|
|
NM_001384140.1(PCDH15):c.2760T>C (p.Asn920=)
|
|
|
NM_001384140.1(PCDH15):c.2769T>A (p.Pro923=)
|
rs727503366
|
|
NM_001384140.1(PCDH15):c.2769T>C (p.Pro923=)
|
rs727503366
|
|
NM_001384140.1(PCDH15):c.2781T>C (p.Ser927=)
|
|
|
NM_001384140.1(PCDH15):c.2786_2787delinsAG (p.Arg929Gln)
|
|
|
NM_001384140.1(PCDH15):c.2793C>T (p.Tyr931=)
|
|
|
NM_001384140.1(PCDH15):c.2799G>A (p.Gly933=)
|
|
|
NM_001384140.1(PCDH15):c.2805G>T (p.Val935=)
|
rs1406455824
|
|
NM_001384140.1(PCDH15):c.2814T>C (p.Asp938=)
|
|
|
NM_001384140.1(PCDH15):c.2823G>A (p.Lys941=)
|
rs773599066
|
|
NM_001384140.1(PCDH15):c.2826T>C (p.Gly942=)
|
rs2134902262
|
|
NM_001384140.1(PCDH15):c.2829A>T (p.Thr943=)
|
|
|
NM_001384140.1(PCDH15):c.282T>G (p.Leu94=)
|
rs1948817425
|
|
NM_001384140.1(PCDH15):c.2838A>G (p.Thr946=)
|
rs2091800436
|
|
NM_001384140.1(PCDH15):c.2844T>A (p.Val948=)
|
rs2134901749
|
|
NM_001384140.1(PCDH15):c.2847T>C (p.Tyr949=)
|
rs2134901643
|
|
NM_001384140.1(PCDH15):c.2850T>C (p.Ala950=)
|
rs2134901606
|
|
NM_001384140.1(PCDH15):c.2859A>C (p.Ala953=)
|
rs375965861
|
|
NM_001384140.1(PCDH15):c.2859A>T (p.Ala953=)
|
rs375965861
|
|
NM_001384140.1(PCDH15):c.2868+10A>C
|
rs1589821675
|
|
NM_001384140.1(PCDH15):c.2868+17_2868+20del
|
|
|
NM_001384140.1(PCDH15):c.2869-13A>C
|
|
|
NM_001384140.1(PCDH15):c.2869-13A>G
|
|
|
NM_001384140.1(PCDH15):c.2869-13_2869-11del
|
rs879272050
|
|
NM_001384140.1(PCDH15):c.2869-17T>G
|
|
|
NM_001384140.1(PCDH15):c.2869-19A>G
|
rs2134303197
|
|
NM_001384140.1(PCDH15):c.2869-5T>C
|
|
|
NM_001384140.1(PCDH15):c.2869-6_2869-2del
|
rs752879165
|
|
NM_001384140.1(PCDH15):c.2877T>G (p.Pro959=)
|
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.2889G>A (p.Val963=)
|
|
|
NM_001384140.1(PCDH15):c.2892G>A (p.Arg964=)
|
rs2134302594
|
|
NM_001384140.1(PCDH15):c.2896A>C (p.Arg966=)
|
rs2134302540
|
|
NM_001384140.1(PCDH15):c.2904T>C (p.Asp968=)
|
|
|
NM_001384140.1(PCDH15):c.2910A>G (p.Val970=)
|
|
|
NM_001384140.1(PCDH15):c.2913G>A (p.Gln971=)
|
|
|
NM_001384140.1(PCDH15):c.2919T>C (p.Pro973=)
|
rs1225231777
|
|
NM_001384140.1(PCDH15):c.291C>T (p.Asn97=)
|
|
|
NM_001384140.1(PCDH15):c.2922C>T (p.Tyr974=)
|
rs2088359285
|
|
NM_001384140.1(PCDH15):c.2934T>C (p.Ile978=)
|
rs2134301828
|
|
NM_001384140.1(PCDH15):c.2943G>A (p.Val981=)
|
|
|
NM_001384140.1(PCDH15):c.2961A>G (p.Arg987=)
|
rs1564869395
|
|
NM_001384140.1(PCDH15):c.297C>A (p.Thr99=)
|
|
|
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=)
|
rs762026724
|
|
NM_001384140.1(PCDH15):c.297C>T (p.Thr99=)
|
rs762026724
|
|
NM_001384140.1(PCDH15):c.2985T>C (p.Asn995=)
|
|
|
NM_001384140.1(PCDH15):c.2997A>G (p.Thr999=)
|
rs956006330
|
|
NM_001384140.1(PCDH15):c.3009+13T>C
|
|
|
NM_001384140.1(PCDH15):c.3009+16C>T
|
|
|
NM_001384140.1(PCDH15):c.3009+19T>A
|
|
|
NM_001384140.1(PCDH15):c.3009+19T>C
|
|
|
NM_001384140.1(PCDH15):c.3009+20A>G
|
|
|
NM_001384140.1(PCDH15):c.300A>C (p.Gly100=)
|
rs2135023055
|
|
NM_001384140.1(PCDH15):c.3010-15T>C
|
|
|
NM_001384140.1(PCDH15):c.3010-16T>A
|
rs749543947
|
|
NM_001384140.1(PCDH15):c.3010-8T>G
|
|
|
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=)
|
rs2088092428
|
|
NM_001384140.1(PCDH15):c.3018G>C (p.Val1006=)
|
|
|
NM_001384140.1(PCDH15):c.303A>G (p.Arg101=)
|
|
|
NM_001384140.1(PCDH15):c.3042T>A (p.Pro1014=)
|
rs775306686
|
|
NM_001384140.1(PCDH15):c.3045G>A (p.Val1015=)
|
rs981351289
|
|
NM_001384140.1(PCDH15):c.3060C>T (p.Ala1020=)
|
|
|
NM_001384140.1(PCDH15):c.3075T>C (p.Leu1025=)
|
|
|
NM_001384140.1(PCDH15):c.3084T>C (p.His1028=)
|
rs755468729
|
|
NM_001384140.1(PCDH15):c.3087T>C (p.Pro1029=)
|
rs1264180698
|
|
NM_001384140.1(PCDH15):c.3096C>A (p.Ile1032=)
|
rs370200250
|
|
NM_001384140.1(PCDH15):c.3099A>G (p.Pro1033=)
|
|
|
NM_001384140.1(PCDH15):c.30T>C (p.Cys10=)
|
rs1276889888
|
|
NM_001384140.1(PCDH15):c.3102C>T (p.Arg1034=)
|
|
|
NM_001384140.1(PCDH15):c.3111G>A (p.Gln1037=)
|
rs2134275750
|
|
NM_001384140.1(PCDH15):c.3117A>G (p.Glu1039=)
|
rs1305021887
|
|
NM_001384140.1(PCDH15):c.3122+11C>A
|
|
|
NM_001384140.1(PCDH15):c.3122+11C>T
|
|
|
NM_001384140.1(PCDH15):c.3122+13G>T
|
|
|
NM_001384140.1(PCDH15):c.3122+16C>G
|
|
|
NM_001384140.1(PCDH15):c.3122+16C>T
|
|
|
NM_001384140.1(PCDH15):c.3122+7A>T
|
|
|
NM_001384140.1(PCDH15):c.3123-12C>T
|
|
|
NM_001384140.1(PCDH15):c.3123-16T>A
|
rs992186847
|
|
NM_001384140.1(PCDH15):c.3123-4G>A
|
|
|
NM_001384140.1(PCDH15):c.3123-4G>T
|
|
|
NM_001384140.1(PCDH15):c.3123-5T>C
|
rs1193370256
|
|
NM_001384140.1(PCDH15):c.3123-5T>G
|
|
|
NM_001384140.1(PCDH15):c.3129T>A (p.Pro1043=)
|
rs1203400741
|
|
NM_001384140.1(PCDH15):c.3135A>G (p.Val1045=)
|
|
|
NM_001384140.1(PCDH15):c.3147C>G (p.Ala1049=)
|
rs1589531636
|
|
NM_001384140.1(PCDH15):c.3156G>A (p.Gly1052=)
|
rs144492858
|
|
NM_001384140.1(PCDH15):c.3159C>G (p.Thr1053=)
|
rs2134073774
|
|
NM_001384140.1(PCDH15):c.3168T>C (p.Gly1056=)
|
|
|
NM_001384140.1(PCDH15):c.318+10T>C
|
rs916367579
|
|
NM_001384140.1(PCDH15):c.318+17del
|
|
|
NM_001384140.1(PCDH15):c.318+7G>A
|
rs2135022078
|
|
NM_001384140.1(PCDH15):c.318+8A>G
|
rs1322735430
|
|
NM_001384140.1(PCDH15):c.318+9T>C
|
rs1263619734
|
|
NM_001384140.1(PCDH15):c.318+9dup
|
rs759464317
|
|
NM_001384140.1(PCDH15):c.3186C>T (p.Ala1062=)
|
rs2134073455
|
|
NM_001384140.1(PCDH15):c.319-10T>C
|
|
|
NM_001384140.1(PCDH15):c.319-11C>T
|
rs1339321225
|
|
NM_001384140.1(PCDH15):c.319-15A>C
|
|
|
NM_001384140.1(PCDH15):c.319-15A>G
|
rs1313132799
|
|
NM_001384140.1(PCDH15):c.319-16A>G
|
|
|
NM_001384140.1(PCDH15):c.319-18G>C
|
rs761263266
|
|
NM_001384140.1(PCDH15):c.319-20A>T
|
|
|
NM_001384140.1(PCDH15):c.319-4G>T
|
|
|
NM_001384140.1(PCDH15):c.319-7A>G
|
|
|
NM_001384140.1(PCDH15):c.319-7A>T
|
rs2134719008
|
|
NM_001384140.1(PCDH15):c.3207C>T (p.Tyr1069=)
|
rs2086001179
|
|
NM_001384140.1(PCDH15):c.3210C>A (p.Ser1070=)
|
|
|
NM_001384140.1(PCDH15):c.3219A>T (p.Ser1073=)
|
|
|
NM_001384140.1(PCDH15):c.321A>C (p.Pro107=)
|
rs1345969752
|
|
NM_001384140.1(PCDH15):c.3232+10C>T
|
rs1589530920
|
|
NM_001384140.1(PCDH15):c.3232+13_3232+14del
|
|
|
NM_001384140.1(PCDH15):c.3232+18T>C
|
|
|
NM_001384140.1(PCDH15):c.3232+8G>A
|
|
|
NM_001384140.1(PCDH15):c.3233-11T>G
|
|
|
NM_001384140.1(PCDH15):c.3233-13T>C
|
|
|
NM_001384140.1(PCDH15):c.3233-14A>G
|
rs2134054895
|
|
NM_001384140.1(PCDH15):c.3233-16G>A
|
|
|
NM_001384140.1(PCDH15):c.3233-18T>C
|
|
|
NM_001384140.1(PCDH15):c.3233-4C>A
|
rs368331130
|
|
NM_001384140.1(PCDH15):c.3233-7T>C
|
|
|
NM_001384140.1(PCDH15):c.3234T>C (p.Asp1078=)
|
|
|
NM_001384140.1(PCDH15):c.324G>C (p.Pro108=)
|
|
|
NM_001384140.1(PCDH15):c.3258A>G (p.Thr1086=)
|
|
|
NM_001384140.1(PCDH15):c.3267C>T (p.Ile1089=)
|
rs2134054501
|
|
NM_001384140.1(PCDH15):c.3273G>T (p.Val1091=)
|
rs897069925
|
|
NM_001384140.1(PCDH15):c.3285G>T (p.Leu1095=)
|
rs374940427
|
|
NM_001384140.1(PCDH15):c.3297C>A (p.Thr1099=)
|
rs749666237
|
|
NM_001384140.1(PCDH15):c.3306C>T (p.Ser1102=)
|
rs1291774713
|
|
NM_001384140.1(PCDH15):c.3315T>C (p.Leu1105=)
|
|
|
NM_001384140.1(PCDH15):c.3316C>A (p.Arg1106=)
|
|
|
NM_001384140.1(PCDH15):c.3333C>A (p.Ser1111=)
|
rs2134053516
|
|
NM_001384140.1(PCDH15):c.3333C>G (p.Ser1111=)
|
rs2134053516
|
|
NM_001384140.1(PCDH15):c.3334C>T (p.Leu1112=)
|
|
|
NM_001384140.1(PCDH15):c.333A>C (p.Ile111=)
|
rs2134717741
|
|
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly)
|
rs563855694
|
|
NM_001384140.1(PCDH15):c.3342G>A (p.Val1114=)
|
|
|
NM_001384140.1(PCDH15):c.3358C>A (p.Arg1120=)
|
|
|
NM_001384140.1(PCDH15):c.3373+11C>T
|
|
|
NM_001384140.1(PCDH15):c.3373+12T>G
|
|
|
NM_001384140.1(PCDH15):c.3373+13_3373+22del
|
rs773563191
|
|
NM_001384140.1(PCDH15):c.3373+14C>A
|
|
|
NM_001384140.1(PCDH15):c.3373+14C>T
|
|
|
NM_001384140.1(PCDH15):c.3373+16T>G
|
|
|
NM_001384140.1(PCDH15):c.3373+19A>G
|
|
|
NM_001384140.1(PCDH15):c.3374-17C>T
|
|
|
NM_001384140.1(PCDH15):c.3374-18T>A
|
rs2133667965
|
|
NM_001384140.1(PCDH15):c.3374-18T>C
|
|
|
NM_001384140.1(PCDH15):c.3374-4C>G
|
rs111739360
|
|
NM_001384140.1(PCDH15):c.3374-6C>T
|
rs2133667704
|
|
NM_001384140.1(PCDH15):c.3374-7C>A
|
|
|
NM_001384140.1(PCDH15):c.3374-8T>C
|
|
|
NM_001384140.1(PCDH15):c.3374-9G>C
|
rs2133667819
|
|
NM_001384140.1(PCDH15):c.3375C>T (p.Ser1125=)
|
|
|
NM_001384140.1(PCDH15):c.3411A>G (p.Glu1137=)
|
rs969425785
|
|
NM_001384140.1(PCDH15):c.3414T>C (p.Asn1138=)
|
rs2133666487
|
|
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=)
|
rs146374856
|
|
NM_001384140.1(PCDH15):c.3453A>T (p.Gly1151=)
|
rs2133665596
|
|
NM_001384140.1(PCDH15):c.3456T>G (p.Gly1152=)
|
rs202091131
|
|
NM_001384140.1(PCDH15):c.3471A>G (p.Ala1157=)
|
|
|
NM_001384140.1(PCDH15):c.3483T>A (p.Thr1161=)
|
rs772300262
|
|
NM_001384140.1(PCDH15):c.3486T>C (p.Ser1162=)
|
|
|
NM_001384140.1(PCDH15):c.3486T>G (p.Ser1162=)
|
|
|
NM_001384140.1(PCDH15):c.3489A>G (p.Val1163=)
|
rs1589338030
|
|
NM_001384140.1(PCDH15):c.3501+15G>T
|
|
|
NM_001384140.1(PCDH15):c.3501+16T>A
|
|
|
NM_001384140.1(PCDH15):c.3501+7G>A
|
rs756402556
|
|
NM_001384140.1(PCDH15):c.3501+8G>A
|
rs758025170
|
|
NM_001384140.1(PCDH15):c.3502-10C>A
|
|
|
NM_001384140.1(PCDH15):c.3502-10C>T
|
|
|
NM_001384140.1(PCDH15):c.3502-10del
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.3502-11C>A
|
|
|
NM_001384140.1(PCDH15):c.3502-13dup
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.3502-15_3502-14insC
|
|
|
NM_001384140.1(PCDH15):c.3502-17T>C
|
|
|
NM_001384140.1(PCDH15):c.3502-18T>G
|
|
|
NM_001384140.1(PCDH15):c.3502-4C>T
|
rs963205208
|
|
NM_001384140.1(PCDH15):c.3502-6G>T
|
|
|
NM_001384140.1(PCDH15):c.3502-9T>A
|
|
|
NM_001384140.1(PCDH15):c.3507T>C (p.Thr1169=)
|
|
|
NM_001384140.1(PCDH15):c.3516T>C (p.Asp1172=)
|
|
|
NM_001384140.1(PCDH15):c.351G>A (p.Gln117=)
|
rs2134717136
|
|
NM_001384140.1(PCDH15):c.3543C>T (p.Tyr1181=)
|
|
|
NM_001384140.1(PCDH15):c.3549C>G (p.Leu1183=)
|
rs2133159389
|
|
NM_001384140.1(PCDH15):c.3570G>A (p.Glu1190=)
|
|
|
NM_001384140.1(PCDH15):c.3576A>G (p.Lys1192=)
|
|
|
NM_001384140.1(PCDH15):c.3579A>G (p.Glu1193=)
|
rs1564640040
|
|
NM_001384140.1(PCDH15):c.3585T>C (p.Phe1195=)
|
rs397517457
|
|
NM_001384140.1(PCDH15):c.3591G>A (p.Val1197=)
|
rs2133158888
|
|
NM_001384140.1(PCDH15):c.3597A>C (p.Thr1199=)
|
|
|
NM_001384140.1(PCDH15):c.3597A>G (p.Thr1199=)
|
|
|
NM_001384140.1(PCDH15):c.3600T>C (p.Tyr1200=)
|
|
|
NM_001384140.1(PCDH15):c.3603A>G (p.Thr1201=)
|
|
|
NM_001384140.1(PCDH15):c.3606G>T (p.Gly1202=)
|
|
|
NM_001384140.1(PCDH15):c.3621T>G (p.Ala1207=)
|
rs1347276029
|
|
NM_001384140.1(PCDH15):c.3630C>T (p.Phe1210=)
|
rs750059910
|
|
NM_001384140.1(PCDH15):c.3636T>C (p.Asn1212=)
|
|
|
NM_001384140.1(PCDH15):c.363C>T (p.Ile121=)
|
rs2134716610
|
|
NM_001384140.1(PCDH15):c.3666T>C (p.Val1222=)
|
rs762138321
|
|
NM_001384140.1(PCDH15):c.3669T>C (p.Ile1223=)
|
rs767431595
|
|
NM_001384140.1(PCDH15):c.3672A>G (p.Ala1224=)
|
rs2133157675
|
|
NM_001384140.1(PCDH15):c.3684T>C (p.Tyr1228=)
|
rs761844211
|
|
NM_001384140.1(PCDH15):c.3687G>A (p.Gly1229=)
|
rs1373901379
|
|
NM_001384140.1(PCDH15):c.3694C>T (p.Leu1232=)
|
|
|
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=)
|
rs774857947
|
|
NM_001384140.1(PCDH15):c.3711T>C (p.Asp1237=)
|
rs61731382
|
|
NM_001384140.1(PCDH15):c.3717+15C>T
|
|
|
NM_001384140.1(PCDH15):c.3717+15del
|
|
|
NM_001384140.1(PCDH15):c.3717+8G>T
|
|
|
NM_001384140.1(PCDH15):c.3718-11T>C
|
|
|
NM_001384140.1(PCDH15):c.3718-16T>G
|
|
|
NM_001384140.1(PCDH15):c.3718-17G>A
|
|
|
NM_001384140.1(PCDH15):c.3718-19C>T
|
|
|
NM_001384140.1(PCDH15):c.3723C>T (p.Ser1241=)
|
rs748083366
|
|
NM_001384140.1(PCDH15):c.3726G>A (p.Val1242=)
|
|
|
NM_001384140.1(PCDH15):c.3729C>G (p.Val1243=)
|
rs2133039483
|
|
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
|
|
|
NM_001384140.1(PCDH15):c.3736C>T (p.Leu1246=)
|
rs2078811943
|
|
NM_001384140.1(PCDH15):c.3738G>C (p.Leu1246=)
|
|
|
NM_001384140.1(PCDH15):c.3738G>T (p.Leu1246=)
|
|
|
NM_001384140.1(PCDH15):c.3741T>C (p.Asp1247=)
|
rs2133039242
|
|
NM_001384140.1(PCDH15):c.3753T>A (p.Ile1251=)
|
|
|
NM_001384140.1(PCDH15):c.3756T>C (p.Val1252=)
|
|
|
NM_001384140.1(PCDH15):c.3777A>T (p.Leu1259=)
|
|
|
NM_001384140.1(PCDH15):c.3780G>A (p.Val1260=)
|
|
|
NM_001384140.1(PCDH15):c.378C>G (p.Gly126=)
|
|
|
NM_001384140.1(PCDH15):c.3806+13G>A
|
|
|
NM_001384140.1(PCDH15):c.3806+16T>C
|
|
|
NM_001384140.1(PCDH15):c.3806+20T>C
|
|
|
NM_001384140.1(PCDH15):c.3806+7G>A
|
|
|
NM_001384140.1(PCDH15):c.3806+7del
|
rs775150264
|
|
NM_001384140.1(PCDH15):c.3807-10del
|
rs776197832
|
|
NM_001384140.1(PCDH15):c.3807-12_3807-9del
|
|
|
NM_001384140.1(PCDH15):c.3807-14T>G
|
|
|
NM_001384140.1(PCDH15):c.3807-18A>G
|
|
|
NM_001384140.1(PCDH15):c.3807-7T>C
|
rs199750810
|
|
NM_001384140.1(PCDH15):c.3810C>A (p.Ile1270=)
|
rs2132763140
|
|
NM_001384140.1(PCDH15):c.381T>A (p.Thr127=)
|
|
|
NM_001384140.1(PCDH15):c.3825T>G (p.Val1275=)
|
rs1394892614
|
|
NM_001384140.1(PCDH15):c.3846C>T (p.Ala1282=)
|
|
|
NM_001384140.1(PCDH15):c.3852C>G (p.Val1284=)
|
|
|
NM_001384140.1(PCDH15):c.3864C>T (p.Ser1288=)
|
|
|
NM_001384140.1(PCDH15):c.3879G>T (p.Arg1293=)
|
|
|
NM_001384140.1(PCDH15):c.3882T>C (p.His1294=)
|
rs2132761902
|
|
NM_001384140.1(PCDH15):c.3894T>C (p.Phe1298=)
|
rs2132761720
|
|
NM_001384140.1(PCDH15):c.3906T>C (p.Asp1302=)
|
rs2077570237
|
|
NM_001384140.1(PCDH15):c.3909C>T (p.Tyr1303=)
|
|
|
NM_001384140.1(PCDH15):c.3912C>G (p.Thr1304=)
|
|
|
NM_001384140.1(PCDH15):c.3924G>A (p.Leu1308=)
|
|
|
NM_001384140.1(PCDH15):c.3960C>A (p.Ala1320=)
|
|
|
NM_001384140.1(PCDH15):c.3963C>A (p.Ile1321=)
|
rs781522540
|
|
NM_001384140.1(PCDH15):c.396A>G (p.Glu132=)
|
|
|
NM_001384140.1(PCDH15):c.3983+8C>A
|
rs2077563848
|
|
NM_001384140.1(PCDH15):c.3983+8C>T
|
|
|
NM_001384140.1(PCDH15):c.3983+9T>G
|
|
|
NM_001384140.1(PCDH15):c.3984-18A>G
|
|
|
NM_001384140.1(PCDH15):c.3984-5T>C
|
|
|
NM_001384140.1(PCDH15):c.3990G>A (p.Leu1330=)
|
rs2132637405
|
|
NM_001384140.1(PCDH15):c.39A>T (p.Ser13=)
|
|
|
NM_001384140.1(PCDH15):c.400C>A (p.Arg134=)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.4011C>T (p.Ile1337=)
|
rs2132637076
|
|
NM_001384140.1(PCDH15):c.4014T>C (p.Asn1338=)
|
rs2132636985
|
|
NM_001384140.1(PCDH15):c.4020C>T (p.Asp1340=)
|
rs2132636936
|
|
NM_001384140.1(PCDH15):c.4029G>T (p.Pro1343=)
|
|
|
NM_001384140.1(PCDH15):c.4032T>C (p.Tyr1344=)
|
|
|
NM_001384140.1(PCDH15):c.4035T>C (p.Tyr1345=)
|
|
|
NM_001384140.1(PCDH15):c.4047A>G (p.Gly1349=)
|
|
|
NM_001384140.1(PCDH15):c.4047A>T (p.Gly1349=)
|
rs2077011452
|
|
NM_001384140.1(PCDH15):c.4050C>T (p.Arg1350=)
|
rs2132636501
|
|
NM_001384140.1(PCDH15):c.4059G>A (p.Glu1353=)
|
|
|
NM_001384140.1(PCDH15):c.405A>C (p.Ile135=)
|
rs1468116913
|
|
NM_001384140.1(PCDH15):c.4062C>T (p.Ile1354=)
|
rs2132636298
|
|
NM_001384140.1(PCDH15):c.4074G>A (p.Glu1358=)
|
|
|
NM_001384140.1(PCDH15):c.4080G>C (p.Val1360=)
|
rs111033499
|
|
NM_001384140.1(PCDH15):c.4083C>A (p.Thr1361=)
|
rs2132635904
|
|
NM_001384140.1(PCDH15):c.408G>C (p.Val136=)
|
|
|
NM_001384140.1(PCDH15):c.4110A>G (p.Leu1370=)
|
rs2077006762
|
|
NM_001384140.1(PCDH15):c.4119A>G (p.Thr1373=)
|
|
|
NM_001384140.1(PCDH15):c.4119A>T (p.Thr1373=)
|
rs2132635336
|
|
NM_001384140.1(PCDH15):c.411G>A (p.Val137=)
|
rs1444023789
|
|
NM_001384140.1(PCDH15):c.4122A>G (p.Glu1374=)
|
rs2132635293
|
|
NM_001384140.1(PCDH15):c.4125G>C (p.Gly1375=)
|
|
|
NM_001384140.1(PCDH15):c.4140G>C (p.Leu1380=)
|
|
|
NM_001384140.1(PCDH15):c.4143C>T (p.Ala1381=)
|
rs2132635037
|
|
NM_001384140.1(PCDH15):c.4158C>T (p.Leu1386=)
|
rs1253422113
|
|
NM_001384140.1(PCDH15):c.4167T>C (p.Ile1389=)
|
rs2132634810
|
|
NM_001384140.1(PCDH15):c.417C>T (p.Asp139=)
|
|
|
NM_001384140.1(PCDH15):c.4182G>T (p.Val1394=)
|
|
|
NM_001384140.1(PCDH15):c.4188G>A (p.Leu1396=)
|
|
|
NM_001384140.1(PCDH15):c.4191C>G (p.Val1397=)
|
|
|
NM_001384140.1(PCDH15):c.4202+15A>G
|
rs761566345
|
|
NM_001384140.1(PCDH15):c.4202+18G>A
|
|
|
NM_001384140.1(PCDH15):c.4202+19T>A
|
rs2077001583
|
|
NM_001384140.1(PCDH15):c.4202+8T>A
|
rs2132634323
|
|
NM_001384140.1(PCDH15):c.4202+9del
|
rs2132634297
|
|
NM_001384140.1(PCDH15):c.4203-10T>C
|
rs2132598726
|
|
NM_001384140.1(PCDH15):c.4203-12T>C
|
rs201987190
|
|
NM_001384140.1(PCDH15):c.4203-14G>C
|
|
|
NM_001384140.1(PCDH15):c.4203-18T>G
|
|
|
NM_001384140.1(PCDH15):c.4203-19C>T
|
rs2132598957
|
|
NM_001384140.1(PCDH15):c.4203-4del
|
rs779015202
|
|
NM_001384140.1(PCDH15):c.4203-6A>T
|
rs2132598519
|
|
NM_001384140.1(PCDH15):c.4203-7C>A
|
|
|
NM_001384140.1(PCDH15):c.4203-7del
|
rs2132598591
|
|
NM_001384140.1(PCDH15):c.4203G>A (p.Gln1401=)
|
rs757898459
|
|
NM_001384140.1(PCDH15):c.4209A>G (p.Lys1403=)
|
|
|
NM_001384140.1(PCDH15):c.4211+12T>G
|
rs766470560
|
|
NM_001384140.1(PCDH15):c.4211+15del
|
|
|
NM_001384140.1(PCDH15):c.4211+4_4211+7dup
|
|
|
NM_001384140.1(PCDH15):c.4211+7A>G
|
rs756020408
|
|
NM_001384140.1(PCDH15):c.4211+9A>G
|
rs1588974103
|
|
NM_001384140.1(PCDH15):c.4211+9_4211+11dup
|
|
|
NM_001384140.1(PCDH15):c.4212-11_4212-7dup
|
|
|
NM_001384140.1(PCDH15):c.4212-12A>G
|
|
|
NM_001384140.1(PCDH15):c.4212-17T>C
|
|
|
NM_001384140.1(PCDH15):c.4212-18A>G
|
|
|
NM_001384140.1(PCDH15):c.4212-20C>T
|
rs775958545
|
|
NM_001384140.1(PCDH15):c.4212-4C>A
|
rs1742862612
|
|
NM_001384140.1(PCDH15):c.4212-4C>T
|
rs1742862612
|
|
NM_001384140.1(PCDH15):c.4212-7del
|
|
|
NM_001384140.1(PCDH15):c.4233G>A (p.Lys1411=)
|
rs767354331
|
|
NM_001384140.1(PCDH15):c.4248G>A (p.Gln1416=)
|
rs2132580181
|
|
NM_001384140.1(PCDH15):c.4251C>A (p.Ala1417=)
|
rs751189532
|
|
NM_001384140.1(PCDH15):c.4251C>G (p.Ala1417=)
|
rs751189532
|
|
NM_001384140.1(PCDH15):c.4251C>T (p.Ala1417=)
|
rs751189532
|
|
NM_001384140.1(PCDH15):c.4254A>C (p.Ala1418=)
|
rs764548141
|
|
NM_001384140.1(PCDH15):c.4255T>C (p.Leu1419=)
|
rs2132579908
|
|
NM_001384140.1(PCDH15):c.4275A>C (p.Ala1425=)
|
rs774100942
|
|
NM_001384140.1(PCDH15):c.4278G>A (p.Val1426=)
|
|
|
NM_001384140.1(PCDH15):c.4278G>T (p.Val1426=)
|
rs2076761242
|
|
NM_001384140.1(PCDH15):c.4281G>A (p.Pro1427=)
|
rs1286261538
|
|
NM_001384140.1(PCDH15):c.4281G>C (p.Pro1427=)
|
|
|
NM_001384140.1(PCDH15):c.4284T>C (p.Ala1428=)
|
|
|
NM_001384140.1(PCDH15):c.4290A>C (p.Ala1430=)
|
rs1472367791
|
|
NM_001384140.1(PCDH15):c.4290A>G (p.Ala1430=)
|
|
|
NM_001384140.1(PCDH15):c.4293A>C (p.Pro1431=)
|
|
|
NM_001384140.1(PCDH15):c.4293A>G (p.Pro1431=)
|
|
|
NM_001384140.1(PCDH15):c.4296G>A (p.Val1432=)
|
|
|
NM_001384140.1(PCDH15):c.4299A>G (p.Ala1433=)
|
rs1588968218
|
|
NM_001384140.1(PCDH15):c.42G>A (p.Gly14=)
|
|
|
NM_001384140.1(PCDH15):c.42G>C (p.Gly14=)
|
rs1043975803
|
|
NM_001384140.1(PCDH15):c.4302G>T (p.Ala1434=)
|
|
|
NM_001384140.1(PCDH15):c.4305C>G (p.Pro1435=)
|
|
|
NM_001384140.1(PCDH15):c.4305C>T (p.Pro1435=)
|
rs2076757559
|
|
NM_001384140.1(PCDH15):c.4308G>A (p.Pro1436=)
|
rs1160719926
|
|
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=)
|
rs1160719926
|
|
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=)
|
rs949983423
|
|
NM_001384140.1(PCDH15):c.4311G>T (p.Pro1437=)
|
|
|
NM_001384140.1(PCDH15):c.4314G>A (p.Pro1438=)
|
rs535913178
|
|
NM_001384140.1(PCDH15):c.4314G>C (p.Pro1438=)
|
|
|
NM_001384140.1(PCDH15):c.4314G>T (p.Pro1438=)
|
rs535913178
|
|
NM_001384140.1(PCDH15):c.4323T>G (p.Pro1441=)
|
rs570029304
|
|
NM_001384140.1(PCDH15):c.4326G>T (p.Pro1442=)
|
rs1588967678
|
|
NM_001384140.1(PCDH15):c.4329A>G (p.Pro1443=)
|
rs369289143
|
|
NM_001384140.1(PCDH15):c.432A>T (p.Ser144=)
|
rs2134713953
|
|
NM_001384140.1(PCDH15):c.4335G>C (p.Ala1445=)
|
rs570557379
|
|
NM_001384140.1(PCDH15):c.4341C>A (p.Leu1447=)
|
|
|
NM_001384140.1(PCDH15):c.4341C>T (p.Leu1447=)
|
rs2076751499
|
|
NM_001384140.1(PCDH15):c.4344T>C (p.Tyr1448=)
|
|
|
NM_001384140.1(PCDH15):c.4350A>G (p.Glu1450=)
|
rs1243436079
|
|
NM_001384140.1(PCDH15):c.435C>T (p.Pro145=)
|
|
|
NM_001384140.1(PCDH15):c.4365A>G (p.Ser1455=)
|
|
|
NM_001384140.1(PCDH15):c.4367+10C>A
|
|
|
NM_001384140.1(PCDH15):c.4367+10C>T
|
|
|
NM_001384140.1(PCDH15):c.4367+12G>A
|
|
|
NM_001384140.1(PCDH15):c.4367+12G>T
|
|
|
NM_001384140.1(PCDH15):c.4367+15C>G
|
|
|
NM_001384140.1(PCDH15):c.4367+15C>T
|
|
|
NM_001384140.1(PCDH15):c.4367+18G>C
|
|
|
NM_001384140.1(PCDH15):c.4367+18del
|
|
|
NM_001384140.1(PCDH15):c.4367+19A>G
|
|
|
NM_001384140.1(PCDH15):c.4367+2262_4367+2265del
|
rs531963480
|
|
NM_001384140.1(PCDH15):c.4367+4_4367+7dup
|
rs2076748483
|
|
NM_001384140.1(PCDH15):c.4368-3138T>C
|
rs1270575255
|
|
NM_001384140.1(PCDH15):c.4368-3139TTTC[3]
|
rs764494096
|
|
NM_001384140.1(PCDH15):c.4368-3141_4368-3139del
|
|
|
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3]
|
rs1452730552
|
|
NM_001384140.1(PCDH15):c.4368-3146A>G
|
|
|
NM_001384140.1(PCDH15):c.4368-3146A>T
|
|
|
NM_001384140.1(PCDH15):c.4368-3150_4368-3132dup
|
rs2076440717
|
|
NM_001384140.1(PCDH15):c.4368-3155_4368-3147del
|
|
|
NM_001384140.1(PCDH15):c.444G>A (p.Lys148=)
|
|
|
NM_001384140.1(PCDH15):c.453C>T (p.Ser151=)
|
|
|
NM_001384140.1(PCDH15):c.459T>C (p.Tyr153=)
|
|
|
NM_001384140.1(PCDH15):c.4626T>C (p.Tyr1542=)
|
rs1588880146
|
|
NM_001384140.1(PCDH15):c.462C>T (p.Ala154=)
|
rs1344094704
|
|
NM_001384140.1(PCDH15):c.465A>G (p.Thr155=)
|
rs559193058
|
|
NM_001384140.1(PCDH15):c.4671+1067G>A
|
rs543196211
|
|
NM_001384140.1(PCDH15):c.4671+1396A>G
|
rs776020523
|
|
NM_001384140.1(PCDH15):c.4671+1552A>G
|
|
|
NM_001384140.1(PCDH15):c.468G>A (p.Val156=)
|
|
|
NM_001384140.1(PCDH15):c.468G>T (p.Val156=)
|
|
|
NM_001384140.1(PCDH15):c.474+12T>C
|
|
|
NM_001384140.1(PCDH15):c.474+17T>C
|
|
|
NM_001384140.1(PCDH15):c.474+20C>A
|
|
|
NM_001384140.1(PCDH15):c.474+20C>G
|
|
|
NM_001384140.1(PCDH15):c.474+9C>A
|
|
|
NM_001384140.1(PCDH15):c.475-14T>C
|
|
|
NM_001384140.1(PCDH15):c.475-16T>C
|
|
|
NM_001384140.1(PCDH15):c.475-4T>G
|
|
|
NM_001384140.1(PCDH15):c.475-7del
|
rs2134177123
|
|
NM_001384140.1(PCDH15):c.475-9T>A
|
|
|
NM_001384140.1(PCDH15):c.519C>T (p.Asp173=)
|
|
|
NM_001384140.1(PCDH15):c.522T>C (p.Asn174=)
|
|
|
NM_001384140.1(PCDH15):c.546A>T (p.Gly182=)
|
|
|
NM_001384140.1(PCDH15):c.54_55inv (p.Ser19Ala)
|
|
|
NM_001384140.1(PCDH15):c.555A>G (p.Gly185=)
|
|
|
NM_001384140.1(PCDH15):c.567T>C (p.Tyr189=)
|
|
|
NM_001384140.1(PCDH15):c.573T>C (p.Ile191=)
|
|
|
NM_001384140.1(PCDH15):c.576G>A (p.Gln192=)
|
|
|
NM_001384140.1(PCDH15):c.57T>G (p.Ser19=)
|
|
|
NM_001384140.1(PCDH15):c.582T>C (p.Asn194=)
|
|
|
NM_001384140.1(PCDH15):c.594+12C>G
|
|
|
NM_001384140.1(PCDH15):c.594+12C>T
|
|
|
NM_001384140.1(PCDH15):c.594+19G>A
|
|
|
NM_001384140.1(PCDH15):c.594+20C>T
|
|
|
NM_001384140.1(PCDH15):c.595-13T>G
|
|
|
NM_001384140.1(PCDH15):c.595-15C>G
|
|
|
NM_001384140.1(PCDH15):c.595-4G>T
|
rs1939028582
|
|
NM_001384140.1(PCDH15):c.595-8A>T
|
|
|
NM_001384140.1(PCDH15):c.595-9T>A
|
rs767505392
|
|
NM_001384140.1(PCDH15):c.606C>T (p.Asp202=)
|
rs1939021574
|
|
NM_001384140.1(PCDH15):c.609C>T (p.Thr203=)
|
rs762859513
|
|
NM_001384140.1(PCDH15):c.618T>A (p.Ile206=)
|
|
|
NM_001384140.1(PCDH15):c.621C>G (p.Pro207=)
|
rs2133883807
|
|
NM_001384140.1(PCDH15):c.628T>C (p.Leu210=)
|
rs1159090797
|
|
NM_001384140.1(PCDH15):c.63T>C (p.Phe21=)
|
|
|
NM_001384140.1(PCDH15):c.642A>C (p.Ile214=)
|
rs1191388453
|
|
NM_001384140.1(PCDH15):c.657G>A (p.Arg219=)
|
|
|
NM_001384140.1(PCDH15):c.672T>C (p.Asp224=)
|
|
|
NM_001384140.1(PCDH15):c.678T>G (p.Thr226=)
|
rs759127233
|
|
NM_001384140.1(PCDH15):c.693A>T (p.Ile231=)
|
|
|
NM_001384140.1(PCDH15):c.699A>G (p.Gln233=)
|
|
|
NM_001384140.1(PCDH15):c.6T>C (p.Phe2=)
|
|
|
NM_001384140.1(PCDH15):c.705+10C>T
|
rs893600821
|
|
NM_001384140.1(PCDH15):c.705+19T>C
|
|
|
NM_001384140.1(PCDH15):c.705+19_705+29del
|
|
|
NM_001384140.1(PCDH15):c.706-10T>C
|
rs2061347468
|
|
NM_001384140.1(PCDH15):c.706-17_706-14del
|
rs886047068
|
|
NM_001384140.1(PCDH15):c.706-20T>C
|
|
|
NM_001384140.1(PCDH15):c.706-20T>G
|
|
|
NM_001384140.1(PCDH15):c.706-21_706-19del
|
rs2061348145
|
|
NM_001384140.1(PCDH15):c.706-8_706-7delinsTT
|
|
|
NM_001384140.1(PCDH15):c.706-9_706-8delinsGT
|
rs2133653994
|
|
NM_001384140.1(PCDH15):c.708C>T (p.Asp236=)
|
|
|
NM_001384140.1(PCDH15):c.711T>C (p.Arg237=)
|
|
|
NM_001384140.1(PCDH15):c.721C>T (p.Leu241=)
|
rs2133653335
|
|
NM_001384140.1(PCDH15):c.723G>C (p.Leu241=)
|
|
|
NM_001384140.1(PCDH15):c.729G>A (p.Glu243=)
|
|
|
NM_001384140.1(PCDH15):c.732G>A (p.Arg244=)
|
|
|
NM_001384140.1(PCDH15):c.738C>A (p.Thr246=)
|
|
|
NM_001384140.1(PCDH15):c.738C>T (p.Thr246=)
|
|
|
NM_001384140.1(PCDH15):c.741C>T (p.Thr247=)
|
|
|
NM_001384140.1(PCDH15):c.75G>A (p.Leu25=)
|
|
|
NM_001384140.1(PCDH15):c.765T>C (p.Val255=)
|
rs2133651808
|
|
NM_001384140.1(PCDH15):c.789A>C (p.Pro263=)
|
rs1221887715
|
|
NM_001384140.1(PCDH15):c.810T>C (p.Leu270=)
|
|
|
NM_001384140.1(PCDH15):c.813G>C (p.Val271=)
|
|
|
NM_001384140.1(PCDH15):c.819C>T (p.Asn273=)
|
rs2133649647
|
|
NM_001384140.1(PCDH15):c.81G>A (p.Gln27=)
|
rs2135421575
|
|
NM_001384140.1(PCDH15):c.822T>G (p.Thr274=)
|
rs2133649478
|
|
NM_001384140.1(PCDH15):c.831C>T (p.Cys277=)
|
rs2061337391
|
|
NM_001384140.1(PCDH15):c.837A>T (p.Pro279=)
|
|
|
NM_001384140.1(PCDH15):c.840C>T (p.Leu280=)
|
|
|
NM_001384140.1(PCDH15):c.846T>C (p.Tyr282=)
|
|
|
NM_001384140.1(PCDH15):c.865T>C (p.Leu289=)
|
|
|
NM_001384140.1(PCDH15):c.873T>C (p.Thr291=)
|
rs200316258
|
|
NM_001384140.1(PCDH15):c.873T>G (p.Thr291=)
|
|
|
NM_001384140.1(PCDH15):c.876+12C>G
|
|
|
NM_001384140.1(PCDH15):c.876+12C>T
|
|
|
NM_001384140.1(PCDH15):c.876+14T>C
|
|
|
NM_001384140.1(PCDH15):c.876+14T>G
|
|
|
NM_001384140.1(PCDH15):c.876+15A>C
|
|
|
NM_001384140.1(PCDH15):c.876+16T>C
|
|
|
NM_001384140.1(PCDH15):c.876+17C>A
|
|
|
NM_001384140.1(PCDH15):c.876+17C>G
|
|
|
NM_001384140.1(PCDH15):c.876+17C>T
|
|
|
NM_001384140.1(PCDH15):c.876+7A>G
|
rs1435301478
|
|
NM_001384140.1(PCDH15):c.876+9A>T
|
|
|
NM_001384140.1(PCDH15):c.877-11T>C
|
|
|
NM_001384140.1(PCDH15):c.877-12dup
|
rs200395027
|
|
NM_001384140.1(PCDH15):c.877-15T>A
|
|
|
NM_001384140.1(PCDH15):c.877-15dup
|
|
|
NM_001384140.1(PCDH15):c.877-16T>C
|
|
|
NM_001384140.1(PCDH15):c.877-17C>G
|
|
|
NM_001384140.1(PCDH15):c.877-18_877-15del
|
|
|
NM_001384140.1(PCDH15):c.877-19C>A
|
|
|
NM_001384140.1(PCDH15):c.877-20T>C
|
|
|
NM_001384140.1(PCDH15):c.877-21CT[2]
|
|
|
NM_001384140.1(PCDH15):c.877-4del
|
rs200395027
|
|
NM_001384140.1(PCDH15):c.877-8T>C
|
rs770813649
|
|
NM_001384140.1(PCDH15):c.909A>T (p.Pro303=)
|
|
|
NM_001384140.1(PCDH15):c.91+15A>G
|
|
|
NM_001384140.1(PCDH15):c.91+15A>T
|
|
|
NM_001384140.1(PCDH15):c.91+16G>T
|
|
|
NM_001384140.1(PCDH15):c.912C>T (p.Ile304=)
|
rs2134389217
|
|
NM_001384140.1(PCDH15):c.921T>C (p.Ile307=)
|
rs2134389014
|
|
NM_001384140.1(PCDH15):c.931C>A (p.Arg311=)
|
rs935278110
|
|
NM_001384140.1(PCDH15):c.933G>C (p.Arg311=)
|
rs775730183
|
|
NM_001384140.1(PCDH15):c.945G>A (p.Pro315=)
|
rs150450873
|
|
NM_001384140.1(PCDH15):c.951A>C (p.Ser317=)
|
|
|
NM_001384140.1(PCDH15):c.957G>A (p.Arg319=)
|
rs372100223
|
|
NM_001384140.1(PCDH15):c.985+10T>G
|
rs1406354205
|
|
NM_001384140.1(PCDH15):c.985+12A>C
|
|
|
NM_001384140.1(PCDH15):c.985+12A>G
|
|
|
NM_001384140.1(PCDH15):c.985+16C>T
|
|
|
NM_001384140.1(PCDH15):c.985+19T>G
|
|
|
NM_001384140.1(PCDH15):c.986-10T>C
|
|
|
NM_001384140.1(PCDH15):c.986-7C>T
|
rs915988368
|
|
NM_001384140.1(PCDH15):c.986-8T>C
|
|
|
NM_001384140.1(PCDH15):c.987G>C (p.Gly329=)
|
rs2051733669
|
|
NM_001384140.1(PCDH15):c.999T>C (p.Asp333=)
|
|
|
NM_033056.4(PCDH15):c.4380C>T (p.Leu1460=)
|
rs2132512661
|
|
NM_033056.4(PCDH15):c.4386T>C (p.His1462=)
|
|
|
NM_033056.4(PCDH15):c.4399A>C (p.Arg1467=)
|
rs2132512361
|
|
NM_033056.4(PCDH15):c.4410C>T (p.Asn1470=)
|
rs750771419
|
|
NM_033056.4(PCDH15):c.4416C>T (p.Val1472=)
|
|
|
NM_033056.4(PCDH15):c.4419A>G (p.Ser1473=)
|
|
|
NM_033056.4(PCDH15):c.4422A>G (p.Glu1474=)
|
rs779162594
|
|
NM_033056.4(PCDH15):c.4437A>G (p.Gln1479=)
|
rs141623033
|
|
NM_033056.4(PCDH15):c.4461C>T (p.Ser1487=)
|
rs2132511167
|
|
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser)
|
rs201534861
|
|
NM_033056.4(PCDH15):c.4464T>C (p.Asn1488=)
|
rs1308744253
|
|
NM_033056.4(PCDH15):c.4467T>C (p.Thr1489=)
|
|
|
NM_033056.4(PCDH15):c.4494A>G (p.Val1498=)
|
rs2132510470
|
|
NM_033056.4(PCDH15):c.4503A>T (p.Ser1501=)
|
rs757624135
|
|
NM_033056.4(PCDH15):c.4533A>G (p.Arg1511=)
|
rs2132509693
|
|
NM_033056.4(PCDH15):c.4536A>G (p.Lys1512=)
|
|
|
NM_033056.4(PCDH15):c.4539C>T (p.Phe1513=)
|
rs2132509488
|
|
NM_033056.4(PCDH15):c.4548A>G (p.Leu1516=)
|
rs2132509375
|
|
NM_033056.4(PCDH15):c.4551T>G (p.Ser1517=)
|
|
|
NM_033056.4(PCDH15):c.4554T>C (p.Asp1518=)
|
|
|
NM_033056.4(PCDH15):c.4560T>C (p.Asp1520=)
|
rs1588940483
|
|
NM_033056.4(PCDH15):c.4581C>T (p.Pro1527=)
|
rs10825114
|
|
NM_033056.4(PCDH15):c.4587T>C (p.Tyr1529=)
|
|
|
NM_033056.4(PCDH15):c.4596C>T (p.Asn1532=)
|
rs2076416258
|
|
NM_033056.4(PCDH15):c.4599A>C (p.Ile1533=)
|
|
|
NM_033056.4(PCDH15):c.4617T>C (p.Asn1539=)
|
rs2132507782
|
|
NM_033056.4(PCDH15):c.4647A>T (p.Val1549=)
|
rs2132507343
|
|
NM_033056.4(PCDH15):c.4650C>T (p.Asp1550=)
|
rs2132507285
|
|
NM_033056.4(PCDH15):c.4656T>C (p.Phe1552=)
|
rs2132507097
|
|
NM_033056.4(PCDH15):c.4662C>G (p.Pro1554=)
|
|
|
NM_033056.4(PCDH15):c.4680T>C (p.Ser1560=)
|
|
|
NM_033056.4(PCDH15):c.4686T>G (p.Ser1562=)
|
|
|
NM_033056.4(PCDH15):c.4689G>C (p.Leu1563=)
|
rs2132506535
|
|
NM_033056.4(PCDH15):c.4689G>T (p.Leu1563=)
|
|
|
NM_033056.4(PCDH15):c.4701A>G (p.Arg1567=)
|
rs2132506199
|
|
NM_033056.4(PCDH15):c.4716G>A (p.Arg1572=)
|
rs2132505993
|
|
NM_033056.4(PCDH15):c.4719G>T (p.Leu1573=)
|
rs529962978
|
|
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=)
|
rs1564538186
|
|
NM_033056.4(PCDH15):c.4731A>G (p.Ser1577=)
|
rs2132505619
|
|
NM_033056.4(PCDH15):c.4733_4734delinsCT (p.Val1578Ala)
|
rs1588938389
|
|
NM_033056.4(PCDH15):c.4740A>G (p.Leu1580=)
|
|
|
NM_033056.4(PCDH15):c.4761A>G (p.Lys1587=)
|
rs2076400191
|
|
NM_033056.4(PCDH15):c.4782C>T (p.Ile1594=)
|
|
|
NM_033056.4(PCDH15):c.4791G>A (p.Leu1597=)
|
|
|
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter)
|
rs1554820663
|
|
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=)
|
rs372440971
|
|
NM_033056.4(PCDH15):c.4806C>A (p.Gly1602=)
|
|
|
NM_033056.4(PCDH15):c.4812G>A (p.Arg1604=)
|
|
|
NM_033056.4(PCDH15):c.4821T>C (p.Ala1607=)
|
|
|
NM_033056.4(PCDH15):c.4827T>C (p.Asn1609=)
|
rs750801092
|
|
NM_033056.4(PCDH15):c.4830A>G (p.Glu1610=)
|
|
|
NM_033056.4(PCDH15):c.4836T>G (p.Thr1612=)
|
|
|
NM_033056.4(PCDH15):c.4836_4837del (p.Gly1613fs)
|
rs2132503591
|
|
NM_033056.4(PCDH15):c.4840dup (p.Ile1614fs)
|
rs2132503466
|
|
NM_033056.4(PCDH15):c.4851_4854dup (p.Arg1619fs)
|
rs778355226
|
|
NM_033056.4(PCDH15):c.4854_4857dup (p.Gly1620fs)
|
|
|
NM_033056.4(PCDH15):c.4866C>T (p.Ser1622=)
|
rs2076390429
|
|
NM_033056.4(PCDH15):c.4869T>C (p.Asn1623=)
|
rs1468408352
|
|
NM_033056.4(PCDH15):c.4872A>G (p.Pro1624=)
|
rs2132502770
|
|
NM_033056.4(PCDH15):c.4872A>T (p.Pro1624=)
|
rs2132502770
|
|
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs)
|
rs1240582095
|
|
NM_033056.4(PCDH15):c.4878T>G (p.Leu1626=)
|
rs2132502701
|
|
NM_033056.4(PCDH15):c.4881A>C (p.Thr1627=)
|
rs1588936896
|
|
NM_033056.4(PCDH15):c.4887A>G (p.Glu1629=)
|
|
|
NM_033056.4(PCDH15):c.4895_4923del (p.Asn1632fs)
|
rs2132501592
|
|
NM_033056.4(PCDH15):c.4897T>C (p.Leu1633=)
|
rs952697934
|
|
NM_033056.4(PCDH15):c.4897_4909dup (p.Glu1637fs)
|
|
|
NM_033056.4(PCDH15):c.4899G>A (p.Leu1633=)
|
rs1468084834
|
|
NM_033056.4(PCDH15):c.4901_4902insGAGGCAATCCATTGCTTACAACTGA (p.Thr1634_Glu1635insArgGlnSerIleAlaTyrAsnTer)
|
|
|
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
|
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
NM_033056.4(PCDH15):c.4907_4910dup (p.Glu1638fs)
|
|
|
NM_033056.4(PCDH15):c.4908A>G (p.Lys1636=)
|
rs2132501946
|
|
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs)
|
rs780945310
|
|
NM_033056.4(PCDH15):c.4920G>A (p.Arg1640=)
|
|
|
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter)
|
rs1484672299
|
|
NM_033056.4(PCDH15):c.4923del (p.Gly1642fs)
|
rs756807938
|
|
NM_033056.4(PCDH15):c.4929_4932dup (p.Leu1645fs)
|
|
|
NM_033056.4(PCDH15):c.4935G>T (p.Leu1645=)
|
|
|
NM_033056.4(PCDH15):c.4941_4944del (p.Ile1647fs)
|
rs2132500986
|
|
NM_033056.4(PCDH15):c.4945G>T (p.Gly1649Ter)
|
rs777414603
|
|
NM_033056.4(PCDH15):c.4946del (p.Gly1649fs)
|
|
|
NM_033056.4(PCDH15):c.4954C>T (p.Gln1652Ter)
|
|
|
NM_033056.4(PCDH15):c.4965T>C (p.Ser1655=)
|
|
|
NM_033056.4(PCDH15):c.4965T>G (p.Ser1655=)
|
rs1007918323
|
|
NM_033056.4(PCDH15):c.4968_4971del (p.Ser1657fs)
|
rs1491078644
|
|
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs)
|
rs1491078644
|
|
NM_033056.4(PCDH15):c.4971T>A (p.Ser1657=)
|
rs1564536472
|
|
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter)
|
rs902963615
|
|
NM_033056.4(PCDH15):c.4974A>T (p.Ser1658=)
|
rs147993163
|
|
NM_033056.4(PCDH15):c.4975_4976del (p.Asp1659fs)
|
rs776857646
|
|
NM_033056.4(PCDH15):c.4980T>C (p.Ser1660=)
|
rs2132499824
|
|
NM_033056.4(PCDH15):c.4983A>G (p.Ser1661=)
|
rs1231967235
|
|
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs)
|
rs1554820394
|
|
NM_033056.4(PCDH15):c.4989C>T (p.Cys1663=)
|
rs2132499636
|
|
NM_033056.4(PCDH15):c.4995C>G (p.Pro1665=)
|
|
|
NM_033056.4(PCDH15):c.5007C>T (p.Phe1669=)
|
rs2132499389
|
|
NM_033056.4(PCDH15):c.5009C>A (p.Ser1670Ter)
|
|
|
NM_033056.4(PCDH15):c.5016C>T (p.Ser1672=)
|
rs2132499146
|
|
NM_033056.4(PCDH15):c.5020_5042dup (p.Glu1682fs)
|
|
|
NM_033056.4(PCDH15):c.5021T>A (p.Leu1674Ter)
|
|
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902
|
|
NM_033056.4(PCDH15):c.5033C>G (p.Ser1678Ter)
|
|
|
NM_033056.4(PCDH15):c.5039del (p.Thr1680fs)
|
rs2132498817
|
|
NM_033056.4(PCDH15):c.5046del (p.Glu1682fs)
|
|
|
NM_033056.4(PCDH15):c.5049C>T (p.Leu1683=)
|
|
|
NM_033056.4(PCDH15):c.5055A>G (p.Ser1685=)
|
rs773237139
|
|
NM_033056.4(PCDH15):c.5061T>C (p.Pro1687=)
|
|
|
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter)
|
rs1554820318
|
|
NM_033056.4(PCDH15):c.5064T>C (p.Asn1688=)
|
|
|
NM_033056.4(PCDH15):c.5076T>C (p.Ser1692=)
|
rs780860319
|
|
NM_033056.4(PCDH15):c.5079T>C (p.Pro1693=)
|
|
|
NM_033056.4(PCDH15):c.5091C>T (p.Ser1697=)
|
rs2132497687
|
|
NM_033056.4(PCDH15):c.5092T>C (p.Leu1698=)
|
|
|
NM_033056.4(PCDH15):c.5094_5137dup (p.Ser1713fs)
|
|
|
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs)
|
rs918473867
|
|
NM_033056.4(PCDH15):c.5118T>A (p.Cys1706Ter)
|
rs1171529835
|
|
NM_033056.4(PCDH15):c.5133A>G (p.Ser1711=)
|
|
|
NM_033056.4(PCDH15):c.5136C>T (p.Leu1712=)
|
|
|
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer)
|
rs1554820255
|
|
NM_033056.4(PCDH15):c.5138_5139del (p.Leu1712_Ser1713insTer)
|
|
|
NM_033056.4(PCDH15):c.5145A>G (p.Arg1715=)
|
rs2132496687
|
|
NM_033056.4(PCDH15):c.5148_5149del (p.Glu1716fs)
|
|
|
NM_033056.4(PCDH15):c.5151A>C (p.Thr1717=)
|
rs2076362718
|
|
NM_033056.4(PCDH15):c.5155_5158dup (p.Cys1720fs)
|
rs2132496410
|
|
NM_033056.4(PCDH15):c.5160T>C (p.Cys1720=)
|
|
|
NM_033056.4(PCDH15):c.5193T>C (p.Phe1731=)
|
|
|
NM_033056.4(PCDH15):c.5207_5249dup (p.Pro1751fs)
|
|
|
NM_033056.4(PCDH15):c.5214A>G (p.Pro1738=)
|
rs2132495405
|
|
NM_033056.4(PCDH15):c.5215_5218dup (p.Ile1740fs)
|
rs2076357685
|
|
NM_033056.4(PCDH15):c.5217C>T (p.Asn1739=)
|
rs2132495315
|
|
NM_033056.4(PCDH15):c.5220C>A (p.Ile1740=)
|
rs2132495229
|
|
NM_033056.4(PCDH15):c.5220del (p.Ser1741fs)
|
|
|
NM_033056.4(PCDH15):c.5223T>A (p.Ser1741=)
|
rs560837504
|
|
NM_033056.4(PCDH15):c.5223T>C (p.Ser1741=)
|
rs560837504
|
|
NM_033056.4(PCDH15):c.5223T>G (p.Ser1741=)
|
rs560837504
|
|
NM_033056.4(PCDH15):c.5225_5345dup (p.Ser1782_Pro1783insPheCysLeuSerProSerProSerSerSerTyrPheSerSerPheSerSerSerCysSerCysSerSerCysSerSerSerTer)
|
|
|
NM_033056.4(PCDH15):c.5227del (p.Ser1743fs)
|
rs2132495057
|
|
NM_033056.4(PCDH15):c.5230_5294dup (p.Ala1766fs)
|
rs2132492597
|
|
NM_033056.4(PCDH15):c.5241_5247del (p.Pro1748fs)
|
rs2132494699
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5247del (p.Pro1750fs)
|
|
|
NM_033056.4(PCDH15):c.5252_5256del (p.Pro1751fs)
|
rs2132494435
|
|
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del)
|
rs767526540
|
|
NM_033056.4(PCDH15):c.5257_5260dup (p.Ser1754fs)
|
rs2132494288
|
|
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del)
|
rs1554820140
|
|
NM_033056.4(PCDH15):c.5257_5268del (p.Ile1753_Pro1756del)
|
rs756858099
|
|
NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del)
|
rs777129729
|
|
NM_033056.4(PCDH15):c.5257_5274del (p.Ile1753_Pro1758del)
|
rs369404101
|
|
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del)
|
rs752658191
|
|
NM_033056.4(PCDH15):c.5257_5280del (p.Ile1753_Pro1760del)
|
|
|
NM_033056.4(PCDH15):c.5257_5286del (p.Ile1753_Pro1762del)
|
|
|
NM_033056.4(PCDH15):c.5259_5271dup (p.Pro1758fs)
|
|
|
NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1])
|
rs727503363
|
|
NM_033056.4(PCDH15):c.5263CCT[1] (p.Pro1756del)
|
|
|
NM_033056.4(PCDH15):c.5265T>G (p.Pro1755=)
|
rs2132494117
|
|
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del)
|
rs1554820050
|
|
NM_033056.4(PCDH15):c.5269_5274del (p.Ser1757_Pro1758del)
|
rs1564534452
|
|
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)
|
rs397517463
|
|
NM_033056.4(PCDH15):c.5271T>C (p.Ser1757=)
|
rs2132493680
|
|
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272_5355del (p.Pro1758_Ser1785del)
|
|
|
NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del)
|
rs761936890
|
|
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)
|
rs373916538
|
|
NM_033056.4(PCDH15):c.5280T>G (p.Pro1760=)
|
rs557685402
|
|
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del)
|
rs1554820012
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5281_5283del (p.Ala1761del)
|
rs2132493064
|
|
NM_033056.4(PCDH15):c.5281_5292del (p.Ala1761_Pro1764del)
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5283T>G (p.Ala1761=)
|
rs375134176
|
|
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)
|
rs770671117
|
|
NM_033056.4(PCDH15):c.5290_5295del (p.Pro1764_Leu1765del)
|
rs1191526555
|
|
NM_033056.4(PCDH15):c.5292T>A (p.Pro1764=)
|
|
|
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5304T>G (p.Pro1768=)
|
|
|
NM_033056.4(PCDH15):c.5307_5342del (p.Asp1770_Pro1781del)
|
|
|
NM_033056.4(PCDH15):c.5310C>T (p.Asp1770=)
|
rs2132491943
|
|
NM_033056.4(PCDH15):c.5323del (p.Ser1775fs)
|
rs2132491717
|
|
NM_033056.4(PCDH15):c.5325_5332del (p.Leu1776fs)
|
|
|
NM_033056.4(PCDH15):c.5326_5327del (p.Leu1776fs)
|
|
|
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
|
rs397517467
|
|
NM_033056.4(PCDH15):c.5332del (p.Cys1778fs)
|
rs1338600699
|
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699
|
|
NM_033056.4(PCDH15):c.5333del (p.Cys1778fs)
|
rs2132491455
|
|
NM_033056.4(PCDH15):c.5334TCC[2] (p.Pro1781del)
|
rs928313592
|
|
NM_033056.4(PCDH15):c.5340T>A (p.Pro1780=)
|
|
|
NM_033056.4(PCDH15):c.5347CCT[1] (p.Pro1784del)
|
rs778824364
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5349_5365del (p.Pro1784fs)
|
|
|
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs)
|
rs1554819970
|
|
NM_033056.4(PCDH15):c.5355_5371del (p.Ile1786fs)
|
|
|
NM_033056.4(PCDH15):c.5358C>T (p.Ile1786=)
|
rs727503361
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
|
rs779691085
|
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225
|
|
NM_033056.4(PCDH15):c.5379T>C (p.Pro1793=)
|
|
|
NM_033056.4(PCDH15):c.5379_5381del (p.Thr1794del)
|
rs750633152
|
|
NM_033056.4(PCDH15):c.5382A>G (p.Thr1794=)
|
rs1196821931
|
|
NM_033056.4(PCDH15):c.5388del (p.Pro1797fs)
|
rs1554819925
|
|
NM_033056.4(PCDH15):c.5406G>A (p.Thr1802=)
|
rs534255804
|
|
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=)
|
rs534255804
|
|
NM_033056.4(PCDH15):c.5415C>T (p.Pro1805=)
|
rs2132488606
|
|
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=)
|
rs753289924
|
|
NM_033056.4(PCDH15):c.5424A>G (p.Pro1808=)
|
rs753289924
|
|
NM_033056.4(PCDH15):c.5433A>G (p.Leu1811=)
|
rs2132488162
|
|
NM_033056.4(PCDH15):c.5451T>C (p.Pro1817=)
|
rs2132487761
|
|
NM_033056.4(PCDH15):c.5454T>C (p.Leu1818=)
|
|
|
NM_033056.4(PCDH15):c.5460A>G (p.Pro1820=)
|
|
|
NM_033056.4(PCDH15):c.5463A>G (p.Pro1821=)
|
|
|
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del)
|
rs1554819787
|
|
NM_033056.4(PCDH15):c.5469T>G (p.Pro1823=)
|
rs1178030804
|
|
NM_033056.4(PCDH15):c.5472T>C (p.Ser1824=)
|
rs2132487334
|
|
NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter)
|
|
|
NM_033056.4(PCDH15):c.5481C>T (p.Cys1827=)
|
rs1588927571
|
|
NM_033056.4(PCDH15):c.5486del (p.Pro1829fs)
|
rs1564532058
|
|
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs)
|
rs1554819767
|
|
NM_033056.4(PCDH15):c.5514A>G (p.Thr1838=)
|
rs2132486411
|
|
NM_033056.4(PCDH15):c.5516_5517del (p.Glu1839fs)
|
rs1564531908
|
|
NM_033056.4(PCDH15):c.5516_5519del (p.Glu1839fs)
|
|
|
NM_033056.4(PCDH15):c.5517G>A (p.Glu1839=)
|
rs2132486345
|
|
NM_033056.4(PCDH15):c.5523_5526dup (p.Ile1843fs)
|
rs1564531800
|
|
NM_033056.4(PCDH15):c.5532A>C (p.Thr1844=)
|
|
|
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=)
|
rs767304005
|
|
NM_033056.4(PCDH15):c.5553C>T (p.Asn1851=)
|
|
|
NM_033056.4(PCDH15):c.5554T>C (p.Leu1852=)
|
|
|
NM_033056.4(PCDH15):c.5557A>T (p.Met1853Leu)
|
rs145903555
|
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445
|
|
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter)
|
rs371269732
|
|
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
|
rs770082088
|
|
NM_033056.4(PCDH15):c.5574T>C (p.Ile1858=)
|
|
|
NM_033056.4(PCDH15):c.5577G>A (p.Lys1859=)
|
|
|
NM_033056.4(PCDH15):c.5580C>A (p.Ser1860=)
|
rs1310758503
|
|
NM_033056.4(PCDH15):c.5580C>T (p.Ser1860=)
|
rs1310758503
|
|
NM_033056.4(PCDH15):c.5592_5605dup (p.Thr1869fs)
|
rs1432657780
|
|
NM_033056.4(PCDH15):c.5593C>T (p.Leu1865=)
|
|
|
NM_033056.4(PCDH15):c.5597C>G (p.Ser1866Ter)
|
rs2076312170
|
|
NM_033056.4(PCDH15):c.5598A>G (p.Ser1866=)
|
rs1564531423
|
|
NM_033056.4(PCDH15):c.5601A>G (p.Thr1867=)
|
|
|
NM_033056.4(PCDH15):c.5616_5619dup (p.Asp1874fs)
|
|
|
NM_033056.4(PCDH15):c.5618_5637dup (p.Lys1880fs)
|
rs1347207661
|
|
NM_033056.4(PCDH15):c.5619A>C (p.Thr1873=)
|
rs1326327098
|
|
NM_033056.4(PCDH15):c.5622C>T (p.Asp1874=)
|
|
|
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs)
|
rs794727570
|
|
NM_033056.4(PCDH15):c.5646C>T (p.Ile1882=)
|
rs1588925614
|
|
NM_033056.4(PCDH15):c.5649C>T (p.Leu1883=)
|
|
|
NM_033056.4(PCDH15):c.5669_5671del (p.Ala1890del)
|
rs771643291
|
|
NM_033056.4(PCDH15):c.5673_5676dup (p.Glu1893delinsThrTer)
|
|
|
NM_033056.4(PCDH15):c.5673_5697dup (p.Tyr1900delinsThrTer)
|
|
|
NM_033056.4(PCDH15):c.5680_5693dup (p.Asn1898delinsLysAsnGlnTer)
|
|
|
NM_033056.4(PCDH15):c.5691T>C (p.Ala1897=)
|
|
|
NM_033056.4(PCDH15):c.5692_5695dup (p.Met1899fs)
|
rs2132482863
|
|
NM_033056.4(PCDH15):c.5699dup (p.Tyr1900Ter)
|
|
|
NM_033056.4(PCDH15):c.5704C>T (p.Gln1902Ter)
|
rs1198625899
|
|
NM_033056.4(PCDH15):c.5706_5709dup (p.Glu1904fs)
|
rs2132482473
|
|
NM_033056.4(PCDH15):c.5715A>G (p.Lys1905=)
|
|
|
NM_033056.4(PCDH15):c.5715_5718del (p.Lys1905fs)
|
|
|
NM_033056.4(PCDH15):c.5716_5718del (p.Asn1906del)
|
|
|
NM_033056.4(PCDH15):c.5717del (p.Asn1906fs)
|
rs778380770
|
|
NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs)
|
rs778380770
|
|
NM_033056.4(PCDH15):c.5719dup (p.Tyr1907fs)
|
rs2132482108
|
|
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)
|
rs568470164
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
NM_033056.4(PCDH15):c.5727C>T (p.Arg1909=)
|
rs2132481863
|
|
NM_033056.4(PCDH15):c.5733T>C (p.Asn1911=)
|
rs2076298772
|
|
NM_033056.4(PCDH15):c.5757C>A (p.Cys1919Ter)
|
rs2076296857
|
|
NM_033056.4(PCDH15):c.5757C>T (p.Cys1919=)
|
|
|
NM_033056.4(PCDH15):c.5764del (p.Glu1922fs)
|
|
|
NM_033056.4(PCDH15):c.5767_5781del (p.Val1923_Glu1927del)
|
rs2132480966
|
|
NM_033056.4(PCDH15):c.5772A>T (p.Thr1924=)
|
rs2132481049
|
|
NM_033056.4(PCDH15):c.5798dup (p.Asn1933fs)
|
|
|
NM_033056.4(PCDH15):c.5806_5809dup (p.Leu1937Ter)
|
|
|
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs)
|
rs1554819493
|
|
NM_033056.4(PCDH15):c.5814C>T (p.Asn1938=)
|
|
|
NM_033056.4(PCDH15):c.5823C>G (p.Val1941=)
|
|
|
NM_033056.4(PCDH15):c.5826G>A (p.Glu1942=)
|
rs2076292138
|
|
NM_033056.4(PCDH15):c.5827G>T (p.Gly1943Ter)
|
|
|
NM_033056.4(PCDH15):c.5832T>C (p.Thr1944=)
|
rs779724710
|
|
NM_033056.4(PCDH15):c.5835A>G (p.Glu1945=)
|
|
|
NM_033056.4(PCDH15):c.5847C>T (p.His1949=)
|
rs778841983
|
|
NM_033056.4(PCDH15):c.5856T>G (p.Ser1952=)
|
rs2132479533
|
|
NM_033056.4(PCDH15):c.5859T>C (p.Thr1953=)
|
|
|
NM_033056.4(PCDH15):c.5865G>A (p.Leu1955=)
|
|
|
NM_033056.4(PCDH15):c.5865G>C (p.Leu1955=)
|
rs2132479403
|
|