ClinVar Miner

List of variants in gene PCDH15

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1003
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HGVS dbSNP
GRCh37/hg19 10q21.1(chr10:54794207-56488063)x1
GRCh37/hg19 10q21.1(chr10:54920534-55615937)x3
GRCh37/hg19 10q21.1(chr10:54976143-55915352)x1
GRCh37/hg19 10q21.1(chr10:55199169-56857578)x4
GRCh37/hg19 10q21.1(chr10:55468897-55645953)x1
GRCh37/hg19 10q21.1(chr10:55559110-55582905)x1
GRCh37/hg19 10q21.1(chr10:55581618-56288162)x6
GRCh37/hg19 10q21.1(chr10:55776283-55874295)x1
GRCh37/hg19 10q21.1(chr10:55824016-56468477)x1
GRCh37/hg19 10q21.1(chr10:55906378-56353687)x1
GRCh37/hg19 10q21.1(chr10:55938132-56040206)x1
GRCh37/hg19 10q21.1(chr10:55942657-56054330)x1
GRCh37/hg19 10q21.1(chr10:55943184-55991753)x3
GRCh37/hg19 10q21.1(chr10:56047470-56170113)x3
GRCh37/hg19 10q21.1(chr10:56110143-56361476)x3
GRCh37/hg19 10q21.1(chr10:56233117-56288866)x3
GRCh37/hg19 10q21.1(chr10:56286068-56288866)x1
GRCh37/hg19 10q21.1(chr10:56309824-56823236)x1
GRCh37/hg19 10q21.1(chr10:56413465-56560751)x1
GRCh37/hg19 10q21.1(chr10:56423968-56469288)x3
GRCh37/hg19 10q21.1(chr10:56441012-56467563)x3
GRCh37/hg19 10q21.1(chr10:56452411-56480111)x3
GRCh37/hg19 10q21.1(chr10:56523671-56573906)x3
GRCh38/hg38 10q21.1(chr10:53954459-54098171)x0
GRCh38/hg38 10q21.1(chr10:54417212-54436627)x3
GRCh38/hg38 10q21.1(chr10:55172554-55427295)x1
NC_000010.10:g.(55839185_55849743)_(55892768_55912859)del
NC_000010.11:g.(?_53806569)_(54528412_?)del
NC_000010.11:g.(?_53806569)_(54664272_?)del
NC_000010.11:g.(?_53806579)_(54664262_?)del
NC_000010.11:g.(?_53821848)_(53831543_?)del
NC_000010.11:g.(?_53903233)_(53903380_?)del
NC_000010.11:g.(?_53903233)_(54664272_?)del
NC_000010.11:g.(?_53938805)_(54664272_?)del
NC_000010.11:g.(?_53976705)_(54036062_?)del
NC_000010.11:g.(?_54066757)_(54090063_?)dup
NC_000010.11:g.(?_54183434)_(54189394_?)del
NC_000010.11:g.(?_54346355)_(54378952_?)dup
NC_000010.11:g.(?_54369110)_(54378952_?)dup
NC_000010.11:g.(?_54369120)_(54378942_?)del
NC_000010.11:g.(?_54378772)_(54378952_?)del
NC_000010.11:g.(?_54527802)_(54664272_?)del
NC_000010.11:g.(?_54664162)_(54664272_?)del
NC_000010.11:g.(?_54690788)_(54898513_?)del
NC_000010.11:g.53831183_53831186del rs59637951
NC_000010.11:g.53831701_53831703del rs10564877
NC_000010.11:g.54214253_54214256del rs35744658
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142763.1:c.-189197_c.610-5166del
NM_001142769.3(PCDH15):c.4410-2146G>A rs869312036
NM_001142769.3(PCDH15):c.4410-921A>G rs115559383
NM_001142769.3(PCDH15):c.4410-943G>A rs1554816509
NM_001142769.3(PCDH15):c.4436G>A (p.Arg1479His) rs368380451
NM_001142769.3(PCDH15):c.4450C>A (p.Pro1484Thr) rs1554816211
NM_001142769.3(PCDH15):c.4454C>T (p.Pro1485Leu) rs1554816210
NM_001142769.3(PCDH15):c.4465G>T (p.Glu1489Ter) rs1554816196
NM_001142769.3(PCDH15):c.4473T>C (p.Tyr1491=) rs1588880146
NM_001142769.3(PCDH15):c.4492_4503del (p.Ala1498_Glu1501del) rs1554816165
NM_001142769.3(PCDH15):c.4498GAA[1] (p.Glu1501del) rs561144747
NM_001142769.3(PCDH15):c.4519-1G>A rs1554815909
NM_001142769.3(PCDH15):c.4623A>C (p.Thr1541=) rs16937769
NM_001142769.3(PCDH15):c.4726C>T (p.Gln1576Ter) rs1056396947
NM_001142769.3(PCDH15):c.4864A>G (p.Ser1622Gly) rs372184022
NM_001142769.3(PCDH15):c.5295A>G (p.Pro1765=) rs145178582
NM_001142770.3(PCDH15):c.4522G>A (p.Val1508Met) rs41274622
NM_001142771.2(PCDH15):c.*14A>G rs876657950
NM_001142771.2(PCDH15):c.4497+1028dup rs1554815895
NM_001142771.2(PCDH15):c.4497+1046A>G rs201855435
NM_001142771.2(PCDH15):c.4497+1053A>C rs149208928
NM_001142771.2(PCDH15):c.4497+1066_4497+1068del rs1554815871
NM_001142771.2(PCDH15):c.4497+1067G>A rs543196211
NM_001142771.2(PCDH15):c.4497+1077_4497+1082del rs1588876049
NM_001142771.2(PCDH15):c.4497+1087C>T rs12359240
NM_001142771.2(PCDH15):c.4497+1109C>T rs145418788
NM_001142771.2(PCDH15):c.4497+1164_4497+1167del rs483353074
NM_001142771.2(PCDH15):c.4497+1192C>T rs935682630
NM_001142771.2(PCDH15):c.4497+1206G>T rs1588875434
NM_001142771.2(PCDH15):c.4497+1223C>T rs566386133
NM_001142771.2(PCDH15):c.4497+1257_4497+1258del rs1554815781
NM_001142771.2(PCDH15):c.4497+1297_4497+1300dup rs1343032451
NM_001142771.2(PCDH15):c.4497+1327T>C rs751344048
NM_001142771.2(PCDH15):c.4497+1344A>C rs11003863
NM_001142771.2(PCDH15):c.4497+1344_4497+1345delinsCC rs1554815737
NM_001142771.2(PCDH15):c.4497+1345G>C rs531574437
NM_001142771.2(PCDH15):c.4497+1355_4497+1359dup rs1588874677
NM_001142771.2(PCDH15):c.4497+1392dup rs757596933
NM_001142771.2(PCDH15):c.4497+1396A>G rs776020523
NM_001142771.2(PCDH15):c.4497+1403GAG[5] rs1272584101
NM_001142771.2(PCDH15):c.4497+1412G>T rs1467453189
NM_001142771.2(PCDH15):c.4497+1418T>C rs730880021
NM_001142771.2(PCDH15):c.4497+1420del rs778088114
NM_001142771.2(PCDH15):c.4497+1438A>C rs16937768
NM_001142771.2(PCDH15):c.4497+1440C>T rs183631592
NM_001142771.2(PCDH15):c.4497+1449_4497+1457dup rs752753497
NM_001142771.2(PCDH15):c.4497+1468A>G rs761431484
NM_001142771.2(PCDH15):c.4497+1511_4497+1519del rs1554815654
NM_001142771.2(PCDH15):c.4497+1523G>T rs755005336
NM_001142771.2(PCDH15):c.4497+1550C>T rs765589050
NM_001142771.2(PCDH15):c.4497+1559C>T rs368397508
NM_001142771.2(PCDH15):c.4497+1577GAA[3] rs774006219
NM_001142771.2(PCDH15):c.4497+1595GAA[3] rs730880019
NM_001142771.2(PCDH15):c.4497+1616G>A rs371191414
NM_001142771.2(PCDH15):c.4497+1617_4497+1637del rs769671738
NM_001142771.2(PCDH15):c.4497+1633T>A rs886042518
NM_001142771.2(PCDH15):c.4497+1642T>C rs182175548
NM_001142771.2(PCDH15):c.4497+1643G>A rs190515330
NM_001142771.2(PCDH15):c.4497+1708_4497+1711dup rs1554815534
NM_001142771.2(PCDH15):c.4498-1564T>C rs193186244
NM_001142771.2(PCDH15):c.4498-1577C>T rs373275867
NM_001142771.2(PCDH15):c.4498-1586T>C rs572152722
NM_001142771.2(PCDH15):c.4498-1607delinsAGT rs730880020
NM_001142771.2(PCDH15):c.4498-1637G>A rs139441645
NM_001142771.2(PCDH15):c.4498-1638C>T rs775641445
NM_001142771.2(PCDH15):c.4498-1648_4498-1644dup rs1554815468
NM_001142771.2(PCDH15):c.4498-1657del rs876657949
NM_001142771.2(PCDH15):c.4498-1662del rs1554815484
NM_001142771.2(PCDH15):c.4498-1666G>T rs1297423576
NM_001142771.2(PCDH15):c.4498-1689G>A
NM_001142771.2(PCDH15):c.4498-1699G>A rs7090408
NM_001142771.2(PCDH15):c.4498-1709_4498-1706dup rs1554815527
NM_001142771.2(PCDH15):c.4498-2A>G rs1554814991
NM_001142771.2(PCDH15):c.4498-4_4498-2dup rs773129893
NM_001142771.2(PCDH15):c.4514_4517dup (p.Lys1507fs) rs1589057333
NM_001142771.2(PCDH15):c.4534C>T (p.Arg1512Ter) rs770416107
NM_001142771.2(PCDH15):c.4548del (p.Ser1517fs) rs778963761
NM_001142771.2(PCDH15):c.4554_4556dup (p.Thr1519dup) rs143978284
NM_001142771.2(PCDH15):c.4555_4560dup (p.Thr1519_Gly1520dup) rs1554814938
NM_001142771.2(PCDH15):c.4565_4568dup (p.Ser1523fs) rs1554814927
NM_001142771.2(PCDH15):c.4584G>A (p.Gln1528=) rs368096085
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.2(PCDH15):c.4654_4661del (p.Ser1552fs) rs750833316
NM_001142771.2(PCDH15):c.4666A>G (p.Thr1556Ala)
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001142771.2(PCDH15):c.4692_4695dup (p.Lys1566fs) rs757520086
NM_001142771.2(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142771.2(PCDH15):c.4740del (p.Asp1581fs) rs1554814800
NM_001142771.2(PCDH15):c.4814_4817dup (p.Met1606fs) rs760669176
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_001142771.2(PCDH15):c.4848C>T (p.Ala1616=) rs377244811
NM_001142771.2(PCDH15):c.4869_4871dup (p.Asn1624dup) rs1554814729
NM_001142771.2(PCDH15):c.4871A>G (p.Asn1624Ser)
NM_001142771.2(PCDH15):c.4880T>C (p.Val1627Ala) rs755487351
NM_001142771.2(PCDH15):c.4908_4909CA[1] (p.Thr1637fs) rs1320916581
NM_001142771.2(PCDH15):c.4908_4915del (p.Ser1636fs) rs1554814684
NM_001142771.2(PCDH15):c.4918C>T (p.Gln1640Ter) rs1554814683
NM_001142771.2(PCDH15):c.4931_4934dup (p.Ser1646_Lys1647insTer) rs770322907
NM_001142771.2(PCDH15):c.4932_4935dup (p.Ser1646Ter) rs1198732380
NM_001142771.2(PCDH15):c.4934_4937dup (p.Ser1646fs) rs1554814669
NM_001142771.2(PCDH15):c.4950G>A (p.Lys1650=) rs74609306
NM_001142771.2(PCDH15):c.4982A>C (p.Gln1661Pro) rs17704703
NM_001142771.2(PCDH15):c.4986_4988TGA[2] (p.Asp1664del) rs1554814635
NM_001142771.2(PCDH15):c.5041A>T (p.Lys1681Ter) rs1554814611
NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del (p.(?))
NM_033056.3(PCDH15):c.1917+33_1917+34dup rs5785040
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.3:c.+15180G>A
NM_033056.3:c.+15212A>C
NM_033056.4(PCDH15):c.*109A>G
NM_033056.4(PCDH15):c.*127dup rs548021914
NM_033056.4(PCDH15):c.*135T>C rs886047058
NM_033056.4(PCDH15):c.*147_*150dup rs886047057
NM_033056.4(PCDH15):c.*268_*269del rs886047056
NM_033056.4(PCDH15):c.*366G>A rs187860910
NM_033056.4(PCDH15):c.*389G>A rs886047055
NM_033056.4(PCDH15):c.*414G>C rs16937780
NM_033056.4(PCDH15):c.*421C>T rs74134797
NM_033056.4(PCDH15):c.*459A>G
NM_033056.4(PCDH15):c.*486G>A rs549184328
NM_033056.4(PCDH15):c.*510T>C
NM_033056.4(PCDH15):c.*512G>C rs571779869
NM_033056.4(PCDH15):c.*558T>A rs886047054
NM_033056.4(PCDH15):c.*600C>A
NM_033056.4(PCDH15):c.*64A>T rs188426462
NM_033056.4(PCDH15):c.*73C>T
NM_033056.4(PCDH15):c.*93T>C
NM_033056.4(PCDH15):c.-126G>A rs551107079
NM_033056.4(PCDH15):c.-155G>C rs886047069
NM_033056.4(PCDH15):c.-180C>T rs375866561
NM_033056.4(PCDH15):c.-288T>C rs566733932
NM_033056.4(PCDH15):c.-5A>G rs142016527
NM_033056.4(PCDH15):c.-5_-3AGA[1] (p.Met1del) rs1555135527
NM_033056.4(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904
NM_033056.4(PCDH15):c.1007G>A (p.Arg336Gln)
NM_033056.4(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746
NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.4(PCDH15):c.1045C>G (p.Leu349Val) rs1554841242
NM_033056.4(PCDH15):c.1075C>T (p.Gln359Ter)
NM_033056.4(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_033056.4(PCDH15):c.1098+107G>A rs10825279
NM_033056.4(PCDH15):c.1098+14A>G rs764625426
NM_033056.4(PCDH15):c.1102G>A (p.Glu368Lys) rs1554833865
NM_033056.4(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
NM_033056.4(PCDH15):c.1141C>G (p.Leu381Val) rs373453298
NM_033056.4(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_033056.4(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450
NM_033056.4(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936
NM_033056.4(PCDH15):c.1179A>G (p.Pro393=)
NM_033056.4(PCDH15):c.1180T>C (p.Tyr394His)
NM_033056.4(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341
NM_033056.4(PCDH15):c.1185T>C (p.Phe395=) rs1427922641
NM_033056.4(PCDH15):c.1195A>C (p.Ser399Arg) rs199786639
NM_033056.4(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_033056.4(PCDH15):c.1220C>T (p.Ser407Phe) rs886047067
NM_033056.4(PCDH15):c.1244C>T (p.Ser415Leu)
NM_033056.4(PCDH15):c.1245G>A (p.Ser415=) rs775789634
NM_033056.4(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620
NM_033056.4(PCDH15):c.1263T>C (p.Thr421=) rs7921598
NM_033056.4(PCDH15):c.1280T>C (p.Val427Ala)
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.4(PCDH15):c.1305+1G>A rs758947077
NM_033056.4(PCDH15):c.1305+1G>C rs758947077
NM_033056.4(PCDH15):c.1305+1del rs1554833699
NM_033056.4(PCDH15):c.1306-13dup rs750120473
NM_033056.4(PCDH15):c.1306-1G>C
NM_033056.4(PCDH15):c.1306-4086A>T rs1564635870
NM_033056.4(PCDH15):c.1306-4110C>T rs749675729
NM_033056.4(PCDH15):c.1306-4111A>C rs78392377
NM_033056.4(PCDH15):c.1306-4116G>A rs200299853
NM_033056.4(PCDH15):c.1306-4122G>A rs370242062
NM_033056.4(PCDH15):c.1306-4123C>T rs16905686
NM_033056.4(PCDH15):c.1320G>A (p.Glu440=) rs947826570
NM_033056.4(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146
NM_033056.4(PCDH15):c.1343_1350del (p.Tyr448fs)
NM_033056.4(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.4(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.4(PCDH15):c.1373G>A (p.Gly458Asp)
NM_033056.4(PCDH15):c.1377T>C (p.Ile459=) rs763593526
NM_033056.4(PCDH15):c.1385A>G (p.Tyr462Cys)
NM_033056.4(PCDH15):c.1427C>T (p.Thr476Ile) rs967946862
NM_033056.4(PCDH15):c.1439C>T (p.Ser480Leu)
NM_033056.4(PCDH15):c.1440+11T>G
NM_033056.4(PCDH15):c.1440+7A>C rs540070936
NM_033056.4(PCDH15):c.1441-2A>C
NM_033056.4(PCDH15):c.1441-7C>T rs1157557398
NM_033056.4(PCDH15):c.1442T>C (p.Ile481Thr) rs1564625358
NM_033056.4(PCDH15):c.1450T>C (p.Phe484Leu)
NM_033056.4(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_033056.4(PCDH15):c.1475dup (p.Val493fs) rs1591019480
NM_033056.4(PCDH15):c.1494A>G (p.Gln498=) rs145141405
NM_033056.4(PCDH15):c.14T>G (p.Phe5Cys)
NM_033056.4(PCDH15):c.1517C>T (p.Thr506Met)
NM_033056.4(PCDH15):c.1524C>G (p.Thr508=) rs778822897
NM_033056.4(PCDH15):c.1537T>C (p.Ser513Pro) rs876657951
NM_033056.4(PCDH15):c.1548G>A (p.Val516=) rs138177808
NM_033056.4(PCDH15):c.157+59097T>C rs75443986
NM_033056.4(PCDH15):c.1570C>A (p.Pro524Thr)
NM_033056.4(PCDH15):c.158-16930T>C rs207470941
NM_033056.4(PCDH15):c.158-1G>A rs876657418
NM_033056.4(PCDH15):c.158-2A>T rs1304228309
NM_033056.4(PCDH15):c.1583T>A (p.Val528Asp) rs267606932
NM_033056.4(PCDH15):c.1590+15A>G rs565203752
NM_033056.4(PCDH15):c.1590+17_1590+21del rs202125339
NM_033056.4(PCDH15):c.1590+20= rs7093302
NM_033056.4(PCDH15):c.1590+20A>G rs7093302
NM_033056.4(PCDH15):c.1590+239T>C rs10082374
NM_033056.4(PCDH15):c.1591-214A>C rs7093558
NM_033056.4(PCDH15):c.1591-68G>A rs41274632
NM_033056.4(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006
NM_033056.4(PCDH15):c.1602C>G (p.Val534=) rs201215741
NM_033056.4(PCDH15):c.1605C>T (p.Asp535=) rs370348265
NM_033056.4(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168
NM_033056.4(PCDH15):c.1611C>T (p.Asp537=) rs771243891
NM_033056.4(PCDH15):c.161C>T (p.Thr54Ile) rs727505253
NM_033056.4(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_033056.4(PCDH15):c.1631T>G (p.Ile544Ser) rs886047066
NM_033056.4(PCDH15):c.1635_1636AT[1] (p.Thr545_Tyr546insTer) rs1554816541
NM_033056.4(PCDH15):c.1643T>G (p.Ile548Ser)
NM_033056.4(PCDH15):c.1649T>G (p.Val550Gly) rs61735482
NM_033056.4(PCDH15):c.1653G>A (p.Gly551=) rs141281651
NM_033056.4(PCDH15):c.169G>A (p.Val57Met) rs1589122156
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.1709_1719del (p.Gly570fs)
NM_033056.4(PCDH15):c.1712T>C (p.Val571Ala)
NM_033056.4(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.4(PCDH15):c.1757C>T (p.Ala586Val)
NM_033056.4(PCDH15):c.1762A>G (p.Asn588Asp)
NM_033056.4(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_033056.4(PCDH15):c.1780C>A (p.Arg594=)
NM_033056.4(PCDH15):c.1784+11T>G rs769008985
NM_033056.4(PCDH15):c.1784+179G>A rs12764713
NM_033056.4(PCDH15):c.1785-2A>C rs1057516474
NM_033056.4(PCDH15):c.1785-6C>A rs1362278878
NM_033056.4(PCDH15):c.17A>G (p.Tyr6Cys)
NM_033056.4(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_033056.4(PCDH15):c.1808T>C (p.Ile603Thr)
NM_033056.4(PCDH15):c.1809T>C (p.Ile603=) rs774896441
NM_033056.4(PCDH15):c.1812A>C (p.Glu604Asp)
NM_033056.4(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_033056.4(PCDH15):c.1836C>A (p.Ser612Arg)
NM_033056.4(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_033056.4(PCDH15):c.1898C>T (p.Ala633Val)
NM_033056.4(PCDH15):c.189A>G (p.Lys63=) rs1554940478
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.1912C>T (p.Leu638=) rs763230126
NM_033056.4(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888
NM_033056.4(PCDH15):c.1917+13GT[10] rs5785040
NM_033056.4(PCDH15):c.1917+233G>A rs7914232
NM_033056.4(PCDH15):c.1917+2T>C rs1554806149
NM_033056.4(PCDH15):c.1917+98C>A rs80313657
NM_033056.4(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.1934G>T (p.Gly645Val) rs763226433
NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_033056.4(PCDH15):c.195T>C (p.Thr65=) rs770371293
NM_033056.4(PCDH15):c.1979T>A (p.Val660Asp)
NM_033056.4(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707
NM_033056.4(PCDH15):c.198T>C (p.Ala66=) rs777099546
NM_033056.4(PCDH15):c.1997+1G>A rs763797356
NM_033056.4(PCDH15):c.1997+1G>T rs763797356
NM_033056.4(PCDH15):c.1997C>T (p.Thr666Ile)
NM_033056.4(PCDH15):c.1998-13G>A rs727504616
NM_033056.4(PCDH15):c.1998-2A>G rs397517452
NM_033056.4(PCDH15):c.1998C>T (p.Thr666=) rs754253198
NM_033056.4(PCDH15):c.19C>A (p.Leu7Ile) rs762092314
NM_033056.4(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_033056.4(PCDH15):c.2000C>T (p.Thr667Met)
NM_033056.4(PCDH15):c.2001G>A (p.Thr667=)
NM_033056.4(PCDH15):c.2014T>C (p.Leu672=) rs772452288
NM_033056.4(PCDH15):c.2026C>T (p.Leu676=) rs746162109
NM_033056.4(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_033056.4(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259
NM_033056.4(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_033056.4(PCDH15):c.2082G>A (p.Arg694=) rs756484846
NM_033056.4(PCDH15):c.2091+141T>C rs1911433
NM_033056.4(PCDH15):c.2091+2T>C rs1554956023
NM_033056.4(PCDH15):c.2092-6T>C rs780684363
NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) rs199537178
NM_033056.4(PCDH15):c.2120T>G (p.Val707Gly) rs942872443
NM_033056.4(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515
NM_033056.4(PCDH15):c.2148_2155del (p.Phe717fs)
NM_033056.4(PCDH15):c.2161C>G (p.Leu721Val) rs794727217
NM_033056.4(PCDH15):c.2168G>T (p.Arg723Ile)
NM_033056.4(PCDH15):c.2191G>T (p.Glu731Ter)
NM_033056.4(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_033056.4(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562
NM_033056.4(PCDH15):c.2196C>T (p.Ala732=) rs770332994
NM_033056.4(PCDH15):c.2202C>T (p.Ala734=) rs201636125
NM_033056.4(PCDH15):c.2208G>A (p.Val736=) rs1590210875
NM_033056.4(PCDH15):c.2214A>C (p.Gln738His)
NM_033056.4(PCDH15):c.2220+1G>A
NM_033056.4(PCDH15):c.2220+9A>G rs886047065
NM_033056.4(PCDH15):c.2221-189T>A rs4146645
NM_033056.4(PCDH15):c.2223A>G (p.Ala741=) rs201332784
NM_033056.4(PCDH15):c.2262C>T (p.Tyr754=) rs373539084
NM_033056.4(PCDH15):c.2268G>A (p.Leu756=) rs143662833
NM_033056.4(PCDH15):c.2277T>C (p.Phe759=) rs1565043296
NM_033056.4(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057
NM_033056.4(PCDH15):c.2325G>A (p.Val775=) rs200792575
NM_033056.4(PCDH15):c.2348A>G (p.Asp783Gly)
NM_033056.4(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033056.4(PCDH15):c.2379T>C (p.Asp793=) rs148920891
NM_033056.4(PCDH15):c.2385A>G (p.Ala795=) rs61731362
NM_033056.4(PCDH15):c.2396G>A (p.Arg799His) rs199824864
NM_033056.4(PCDH15):c.2400T>C (p.His800=) rs1400103823
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) rs781148814
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.4(PCDH15):c.2445C>T (p.Asn815=) rs768200772
NM_033056.4(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_033056.4(PCDH15):c.2522T>C (p.Ile841Thr)
NM_033056.4(PCDH15):c.2527-7A>G rs368267236
NM_033056.4(PCDH15):c.2538C>T (p.Val846=) rs727504573
NM_033056.4(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551
NM_033056.4(PCDH15):c.2550A>C (p.Ala850=) rs140893140
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2564G>A (p.Arg855Gln)
NM_033056.4(PCDH15):c.2572del (p.Ser858fs)
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) rs142512524
NM_033056.4(PCDH15):c.2619A>G (p.Glu873=) rs150784450
NM_033056.4(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_033056.4(PCDH15):c.2685G>C (p.Leu895=)
NM_033056.4(PCDH15):c.2691G>A (p.Glu897=) rs876657952
NM_033056.4(PCDH15):c.2691G>C (p.Glu897Asp) rs876657952
NM_033056.4(PCDH15):c.2706T>C (p.Tyr902=) rs1165535726
NM_033056.4(PCDH15):c.2709A>G (p.Gly903=) rs886047064
NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826
NM_033056.4(PCDH15):c.2721T>G (p.Pro907=) rs727504835
NM_033056.4(PCDH15):c.2723G>A (p.Gly908Asp)
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.2731A>G (p.Thr911Ala)
NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_033056.4(PCDH15):c.2751+192G>T rs2891497
NM_033056.4(PCDH15):c.2751+2T>C rs754543131
NM_033056.4(PCDH15):c.2751+37C>T rs3812658
NM_033056.4(PCDH15):c.2751+43C>G rs2660169
NM_033056.4(PCDH15):c.2751+9T>C rs180804907
NM_033056.4(PCDH15):c.2752-75C>G rs2253647
NM_033056.4(PCDH15):c.2752-8T>C rs1589822605
NM_033056.4(PCDH15):c.2768C>T (p.Pro923Leu) rs191577774
NM_033056.4(PCDH15):c.2769T>C (p.Pro923=) rs727503366
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.4(PCDH15):c.2793C>G (p.Tyr931Ter)
NM_033056.4(PCDH15):c.2799G>C (p.Gly933=) rs139853291
NM_033056.4(PCDH15):c.2807C>T (p.Ala936Val) rs369029215
NM_033056.4(PCDH15):c.2811G>A (p.Pro937=) rs1449039709
NM_033056.4(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066
NM_033056.4(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_033056.4(PCDH15):c.2856T>C (p.Asp952=) rs187811627
NM_033056.4(PCDH15):c.2859A>C (p.Ala953=) rs375965861
NM_033056.4(PCDH15):c.2868+10A>C rs1589821675
NM_033056.4(PCDH15):c.2868+172G>A rs2135721
NM_033056.4(PCDH15):c.2868+1G>A rs1589821731
NM_033056.4(PCDH15):c.2868+2T>C
NM_033056.4(PCDH15):c.2868+69G>A rs11003980
NM_033056.4(PCDH15):c.2868+6T>C
NM_033056.4(PCDH15):c.2868+8G>T rs1283676141
NM_033056.4(PCDH15):c.2869-109T>C rs2456699
NM_033056.4(PCDH15):c.2869-193dup rs5785030
NM_033056.4(PCDH15):c.2869-1G>A
NM_033056.4(PCDH15):c.2869-1G>T rs1554883705
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.2891G>A (p.Arg964Lys)
NM_033056.4(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_033056.4(PCDH15):c.2908G>A (p.Val970Ile) rs138338096
NM_033056.4(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.2979T>C (p.Asn993=) rs1244022175
NM_033056.4(PCDH15):c.297C>G (p.Thr99=) rs762026724
NM_033056.4(PCDH15):c.298G>A (p.Gly100Arg)
NM_033056.4(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_033056.4(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_033056.4(PCDH15):c.3009+7G>A rs201161336
NM_033056.4(PCDH15):c.3010-342T>C rs2446611
NM_033056.4(PCDH15):c.3010-343T>C rs2446610
NM_033056.4(PCDH15):c.3010-48G>A rs2593107
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_033056.4(PCDH15):c.3029A>G (p.Asp1010Gly)
NM_033056.4(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_033056.4(PCDH15):c.3042T>C (p.Pro1014=) rs775306686
NM_033056.4(PCDH15):c.3074T>C (p.Leu1025Pro)
NM_033056.4(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_033056.4(PCDH15):c.3101G>A (p.Arg1034His) rs907693214
NM_033056.4(PCDH15):c.3122+1G>A
NM_033056.4(PCDH15):c.3122+2T>A rs1554882546
NM_033056.4(PCDH15):c.3122+3A>G rs373365331
NM_033056.4(PCDH15):c.3123-1G>A rs1554873550
NM_033056.4(PCDH15):c.3123-238A>G rs2384340
NM_033056.4(PCDH15):c.3123-244A>C rs2384341
NM_033056.4(PCDH15):c.3123-333A>G rs10825169
NM_033056.4(PCDH15):c.3127C>T (p.Pro1043Ser) rs189284385
NM_033056.4(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455
NM_033056.4(PCDH15):c.3147C>G (p.Ala1049=) rs1589531636
NM_033056.4(PCDH15):c.319-251G>T rs1342308
NM_033056.4(PCDH15):c.319-31T>C rs11594958
NM_033056.4(PCDH15):c.319-5T>G
NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.4(PCDH15):c.3206A>G (p.Tyr1069Cys)
NM_033056.4(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_033056.4(PCDH15):c.321A>C (p.Pro107=) rs1345969752
NM_033056.4(PCDH15):c.3232+10C>T rs1589530920
NM_033056.4(PCDH15):c.3233-2A>G rs1554872194
NM_033056.4(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_033056.4(PCDH15):c.3276T>C (p.Asn1092=) rs772160626
NM_033056.4(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.4(PCDH15):c.3313C>A (p.Leu1105Ile)
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.3327T>C (p.Ala1109=) rs1554871942
NM_033056.4(PCDH15):c.3328G>A (p.Asp1110Asn)
NM_033056.4(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_033056.4(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_033056.4(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494
NM_033056.4(PCDH15):c.3373+1G>A
NM_033056.4(PCDH15):c.3373+3A>G rs397517456
NM_033056.4(PCDH15):c.3373+9T>C rs747731752
NM_033056.4(PCDH15):c.3374-16G>A rs139684809
NM_033056.4(PCDH15):c.3374-1G>T rs1554852472
NM_033056.4(PCDH15):c.3374-4C>T rs111739360
NM_033056.4(PCDH15):c.3374-68T>G rs10740559
NM_033056.4(PCDH15):c.3374-72A>G rs2593124
NM_033056.4(PCDH15):c.3416_3418ATC[1] (p.His1140del) rs1554852410
NM_033056.4(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3444C>T (p.Phe1148=) rs876657562
NM_033056.4(PCDH15):c.3450C>A (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3450C>T (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3456T>C (p.Gly1152=) rs202091131
NM_033056.4(PCDH15):c.3475dup (p.Met1159fs)
NM_033056.4(PCDH15):c.3489A>G (p.Val1163=) rs1589338030
NM_033056.4(PCDH15):c.3498G>A (p.Val1166=) rs1554852336
NM_033056.4(PCDH15):c.3501+13A>G rs727503365
NM_033056.4(PCDH15):c.3501+1G>A
NM_033056.4(PCDH15):c.3501+1G>T rs1402893508
NM_033056.4(PCDH15):c.3501+6C>T
NM_033056.4(PCDH15):c.3501+7G>T rs756402556
NM_033056.4(PCDH15):c.3502-10del rs750835578
NM_033056.4(PCDH15):c.3502-133C>T rs7904289
NM_033056.4(PCDH15):c.3502-14del rs5785023
NM_033056.4(PCDH15):c.3502-22dup rs5785023
NM_033056.4(PCDH15):c.3502-2A>G rs1554836566
NM_033056.4(PCDH15):c.3502-6G>A rs749897896
NM_033056.4(PCDH15):c.3502-7C>T rs757876538
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033056.4(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187
NM_033056.4(PCDH15):c.3522C>A (p.Gly1174=) rs753725514
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3555A>G (p.Ile1185Met)
NM_033056.4(PCDH15):c.355C>T (p.Gln119Ter)
NM_033056.4(PCDH15):c.3585T>C (p.Phe1195=) rs397517457
NM_033056.4(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_033056.4(PCDH15):c.3592G>A (p.Glu1198Lys)
NM_033056.4(PCDH15):c.3596C>T (p.Thr1199Ile) rs794727445
NM_033056.4(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_033056.4(PCDH15):c.3661C>T (p.Gln1221Ter) rs1589156388
NM_033056.4(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775
NM_033056.4(PCDH15):c.3669T>C (p.Ile1223=) rs767431595
NM_033056.4(PCDH15):c.366del (p.Asn122fs) rs1589072933
NM_033056.4(PCDH15):c.3673A>G (p.Thr1225Ala)
NM_033056.4(PCDH15):c.3679G>A (p.Asp1227Asn) rs368127988
NM_033056.4(PCDH15):c.3687G>A (p.Gly1229=) rs1373901379
NM_033056.4(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_033056.4(PCDH15):c.369A>G (p.Lys123=) rs1317246200
NM_033056.4(PCDH15):c.3700G>A (p.Gly1234Ser)
NM_033056.4(PCDH15):c.3711T>C (p.Asp1237=) rs61731382
NM_033056.4(PCDH15):c.3717+10T>C rs376158566
NM_033056.4(PCDH15):c.3717+1G>A rs748706627
NM_033056.4(PCDH15):c.3717+2dup rs1248401224
NM_033056.4(PCDH15):c.3717+35T>C rs10825135
NM_033056.4(PCDH15):c.3717+8G>C rs200556301
NM_033056.4(PCDH15):c.3718-154A>G rs7083307
NM_033056.4(PCDH15):c.3718-19C>A rs75248212
NM_033056.4(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.4(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_033056.4(PCDH15):c.3753T>C (p.Ile1251=) rs139873638
NM_033056.4(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
NM_033056.4(PCDH15):c.3791_3792del (p.Ile1264fs)
NM_033056.4(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_033056.4(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.4(PCDH15):c.3806+1G>C rs1554833227
NM_033056.4(PCDH15):c.3806+2T>C rs756692340
NM_033056.4(PCDH15):c.3807-2A>G rs1328440878
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
NM_033056.4(PCDH15):c.3814G>C (p.Asp1272His)
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.3840T>C (p.Pro1280=) rs1304146421
NM_033056.4(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_033056.4(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_033056.4(PCDH15):c.3877C>A (p.Arg1293=) rs142034111
NM_033056.4(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_033056.4(PCDH15):c.3900A>G (p.Leu1300=) rs1431942619
NM_033056.4(PCDH15):c.3932A>G (p.Tyr1311Cys)
NM_033056.4(PCDH15):c.3933T>C (p.Tyr1311=) rs141008938
NM_033056.4(PCDH15):c.3936A>G (p.Ala1312=) rs398124433
NM_033056.4(PCDH15):c.3942C>G (p.Asp1314Glu) rs1356928617
NM_033056.4(PCDH15):c.3946del (p.Gln1316fs) rs1589036783
NM_033056.4(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_033056.4(PCDH15):c.3951C>T (p.Thr1317=) rs144955298
NM_033056.4(PCDH15):c.3963_3964insA (p.Asp1322fs)
NM_033056.4(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_033056.4(PCDH15):c.3974A>G (p.Glu1325Gly)
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033056.4(PCDH15):c.3983+2dup rs1554827124
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.3984-20C>T rs7089209
NM_033056.4(PCDH15):c.3984-2A>G rs1554824185
NM_033056.4(PCDH15):c.3984-2A>T
NM_033056.4(PCDH15):c.3984-6A>G
NM_033056.4(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_033056.4(PCDH15):c.400C>A (p.Arg134=)
NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.401G>A (p.Arg134Gln)
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.402A>G (p.Arg134=) rs368763164
NM_033056.4(PCDH15):c.4035T>A (p.Tyr1345Ter) rs1057520678
NM_033056.4(PCDH15):c.4039G>A (p.Glu1347Lys)
NM_033056.4(PCDH15):c.4048C>T (p.Arg1350Cys)
NM_033056.4(PCDH15):c.4049G>A (p.Arg1350His) rs752356781
NM_033056.4(PCDH15):c.4064G>A (p.Arg1355Gln)
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4080G>C (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449
NM_033056.4(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_033056.4(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783
NM_033056.4(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_033056.4(PCDH15):c.4127C>T (p.Ala1376Val)
NM_033056.4(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_033056.4(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_033056.4(PCDH15):c.4177T>C (p.Leu1393=) rs1464924888
NM_033056.4(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_033056.4(PCDH15):c.4202+225C>T rs10825117
NM_033056.4(PCDH15):c.4202+3A>G
NM_033056.4(PCDH15):c.4202+5G>A rs886047063
NM_033056.4(PCDH15):c.4203-151C>A rs4935096
NM_033056.4(PCDH15):c.4203-162T>C rs4935472
NM_033056.4(PCDH15):c.4203-7C>T rs1209357687
NM_033056.4(PCDH15):c.4203-8C>G
NM_033056.4(PCDH15):c.4211+188C>T rs4570494
NM_033056.4(PCDH15):c.4211+1G>A rs1554823229
NM_033056.4(PCDH15):c.4211+1del rs1554823231
NM_033056.4(PCDH15):c.4211+2T>G rs753832779
NM_033056.4(PCDH15):c.4211+2dup rs1057517419
NM_033056.4(PCDH15):c.4213C>G (p.Arg1405Gly) rs148046721
NM_033056.4(PCDH15):c.4214G>A (p.Arg1405His) rs143538460
NM_033056.4(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_033056.4(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_033056.4(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_033056.4(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_033056.4(PCDH15):c.4249G>A (p.Ala1417Thr) rs1284117885
NM_033056.4(PCDH15):c.4254A>G (p.Ala1418=) rs764548141
NM_033056.4(PCDH15):c.4260C>T (p.Pro1420=) rs775658931
NM_033056.4(PCDH15):c.4272A>G (p.Pro1424=) rs759109238
NM_033056.4(PCDH15):c.4275A>C (p.Ala1425=)
NM_033056.4(PCDH15):c.4294G>C (p.Val1432Leu) rs886043533
NM_033056.4(PCDH15):c.42G>T (p.Gly14=)
NM_033056.4(PCDH15):c.4303C>T (p.Pro1435Ser)
NM_033056.4(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_033056.4(PCDH15):c.4308G>T (p.Pro1436=) rs1160719926
NM_033056.4(PCDH15):c.4308GCC[8] (p.Pro1441_Pro1443dup)
NM_033056.4(PCDH15):c.4308_4310GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[6] (p.Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_033056.4(PCDH15):c.4314G>A (p.Pro1438=) rs535913178
NM_033056.4(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898
NM_033056.4(PCDH15):c.4317G>A (p.Pro1439=) rs370470900
NM_033056.4(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_033056.4(PCDH15):c.4319C>G (p.Pro1440Arg)
NM_033056.4(PCDH15):c.4319C>T (p.Pro1440Leu)
NM_033056.4(PCDH15):c.4320G>A (p.Pro1440=) rs12246234
NM_033056.4(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup) rs776051221
NM_033056.4(PCDH15):c.4326G>T (p.Pro1442=) rs1588967678
NM_033056.4(PCDH15):c.4329A>C (p.Pro1443=) rs369289143
NM_033056.4(PCDH15):c.4329A>G (p.Pro1443=) rs369289143
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_033056.4(PCDH15):c.4343_4344del (p.Leu1447_Tyr1448insTer) rs1588967380
NM_033056.4(PCDH15):c.4367+119T>C rs10740555
NM_033056.4(PCDH15):c.4367+1G>A rs1057516613
NM_033056.4(PCDH15):c.4367+2T>C rs1554822703
NM_033056.4(PCDH15):c.4367+88A>G rs45466098
NM_033056.4(PCDH15):c.4367+8G>A rs727504745
NM_033056.4(PCDH15):c.4368-14TCTTT[3] rs1452730552
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-1773_4368-1770del rs531963480
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-3A>C rs1564540949
NM_033056.4(PCDH15):c.4368-3_4369dup
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4368-76C>T rs375657329
NM_033056.4(PCDH15):c.4368-77G>A rs776152870
NM_033056.4(PCDH15):c.4368-77del rs1554821197
NM_033056.4(PCDH15):c.4368-79_4368-76del rs1554821194
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg)
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4402G>A (p.Gly1468Arg)
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4435_4437CAA[1] (p.Gln1480del) rs1358121247
NM_033056.4(PCDH15):c.4449G>A (p.Met1483Ile)
NM_033056.4(PCDH15):c.4459T>C (p.Ser1487Pro) rs727504071
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=) rs772650866
NM_033056.4(PCDH15):c.4486G>A (p.Ala1496Thr)
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=) rs369183721
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
NM_033056.4(PCDH15):c.4553A>T (p.Asp1518Val)
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4560T>C (p.Asp1520=) rs1588940483
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4568G>A (p.Ser1523Asn) rs1377421029
NM_033056.4(PCDH15):c.4575T>C (p.His1525=) rs746377416
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.4592A>G (p.Glu1531Gly) rs397517460
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=) rs727504070
NM_033056.4(PCDH15):c.4611A>T (p.Ser1537=) rs142387128
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile)
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.462C>T (p.Ala154=) rs1344094704
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)
NM_033056.4(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_033056.4(PCDH15):c.466G>C (p.Val156Leu) rs534173969
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4698A>G (p.Pro1566=) rs747777278
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.470A>G (p.Asn157Ser) rs727503368
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978
NM_033056.4(PCDH15):c.4724_4726dup (p.Gln1576_Ser1577insArg) rs762814533
NM_033056.4(PCDH15):c.4725_4728TCAG[4] (p.Leu1580fs) rs770063261
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181
NM_033056.4(PCDH15):c.4733_4734delinsCT (p.Val1578Ala) rs1588938389
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=) rs372095792
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys) rs149384350
NM_033056.4(PCDH15):c.4774C>T (p.Pro1592Ser)
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780
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.4797G>C (p.Gln1599His)
NM_033056.4(PCDH15):c.4810A>C (p.Arg1604=) rs558224212
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4837G>A (p.Gly1613Arg) rs876657563
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4881A>C (p.Thr1627=) rs1588936896
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160
NM_033056.4(PCDH15):c.4895_4897dup (p.Leu1633_Thr1634insTyr) rs1554820541
NM_033056.4(PCDH15):c.4897T>C (p.Leu1633=) rs952697934
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4919G>A (p.Arg1640Lys)
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup)
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=) rs61862392
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4964_4965CT[3] (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4965T>G (p.Ser1655=) rs1007918323
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.4993C>A (p.Pro1665Thr) rs886047062
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5004C>T (p.His1668=) rs761142606
NM_033056.4(PCDH15):c.5010_5015del (p.1669_1670FS[1]) rs766452153
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5028T>A (p.Thr1676=)
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812
NM_033056.4(PCDH15):c.5055A>G (p.Ser1685=) rs773237139
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup)
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5134_5135CT[5] (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser)
NM_033056.4(PCDH15):c.5155A>G (p.Ile1719Val)
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile) rs772619593
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5216A>T (p.Asn1739Ile)
NM_033056.4(PCDH15):c.521A>G (p.Asn174Ser) rs145037203
NM_033056.4(PCDH15):c.5223T>G (p.Ser1741=) rs560837504
NM_033056.4(PCDH15):c.5236C>A (p.Pro1746Thr)
NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5256T>A (p.Pro1752=) rs761798683
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del)
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5260_5268TCTCCTCCT[1] (p.1754_1756SPP[1]) rs727503363
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.526G>A (p.Ala176Thr)
NM_033056.4(PCDH15):c.5270C>T (p.Ser1757Phe)
NM_033056.4(PCDH15):c.5272_5274CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272_5274CCT[4] (p.Pro1760dup) rs754779351
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1]) rs397517465
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.4(PCDH15):c.5283T>G (p.Ala1761=) rs375134176
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met) rs886047061
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=) rs727503362
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser) rs751914445
NM_033056.4(PCDH15):c.5343_5351del (p.1780PPS[1])
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5346T>A (p.Ser1782=) rs397517468
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349T>G (p.Pro1783=) rs727505113
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5352T>A (p.Pro1784=) rs727505100
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5358C>A (p.Ile1786=) rs727503361
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5363_5368TTCCTC[1] (p.1788_1789LP[1]) rs779691085
NM_033056.4(PCDH15):c.5363_5368TTCCTC[3] (p.1788_1789LP[3]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.536T>C (p.Ile179Thr)
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu) rs1268531021
NM_033056.4(PCDH15):c.5375C>G (p.Pro1792Arg)
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser)
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=) rs367881384
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala)
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=) rs534255804
NM_033056.4(PCDH15):c.5408C>T (p.Ser1803Phe)
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.4(PCDH15):c.5416C>T (p.Pro1806Ser)
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=) rs753289924
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe) rs776844300
NM_033056.4(PCDH15):c.5481C>T (p.Cys1827=) rs1588927571
NM_033056.4(PCDH15):c.5486del (p.Pro1829fs) rs1564532058
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
NM_033056.4(PCDH15):c.5511_5512CA[1] (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe) rs752231055
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=) rs767304005
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
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.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys) rs371269732
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.4(PCDH15):c.5600_5603delinsT (p.Thr1867_Thr1868delinsMet) rs1554819686
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894
NM_033056.4(PCDH15):c.5628_5629GA[1] (p.Arg1877fs) rs794727570
NM_033056.4(PCDH15):c.5628_5629GA[2] (p.Glu1878fs) rs794727570
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741
NM_033056.4(PCDH15):c.5646C>T (p.Ile1882=) rs1588925614
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly)
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5659A>T (p.Lys1887Ter)
NM_033056.4(PCDH15):c.567T>A (p.Tyr189Ter)
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly)
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.5708T>C (p.Ile1903Thr)
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.5755T>A (p.Cys1919Ser)
NM_033056.4(PCDH15):c.575A>G (p.Gln192Arg) rs201496062
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=) rs727504069
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5816A>T (p.Asn1939Ile)
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys)
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099
NM_033056.4(PCDH15):c.5845_5846CA[1] (p.His1949fs) rs781339303
NM_033056.4(PCDH15):c.5849_5852del (p.Ser1950fs)
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5862A>G (p.Ser1954=) rs755165199
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980
NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu) rs145232643
NM_033056.4(PCDH15):c.594+1G>T rs1057516470
NM_033056.4(PCDH15):c.594G>A (p.Pro198=) rs368308772
NM_033056.4(PCDH15):c.595-101G>A rs7342012
NM_033056.4(PCDH15):c.595-252G>A rs857396
NM_033056.4(PCDH15):c.595-2A>C
NM_033056.4(PCDH15):c.602A>G (p.Asn201Ser)
NM_033056.4(PCDH15):c.607A>G (p.Thr203Ala) rs200975767
NM_033056.4(PCDH15):c.619C>T (p.Pro207Ser)
NM_033056.4(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_033056.4(PCDH15):c.662A>G (p.Asn221Ser)
NM_033056.4(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_033056.4(PCDH15):c.678T>C (p.Thr226=) rs759127233
NM_033056.4(PCDH15):c.679C>T (p.Arg227Cys) rs565693539
NM_033056.4(PCDH15):c.705+133T>C rs11004240
NM_033056.4(PCDH15):c.705+190G>A rs11004239
NM_033056.4(PCDH15):c.705+1G>A rs1554903842
NM_033056.4(PCDH15):c.705+225T>C rs857394
NM_033056.4(PCDH15):c.705+288C>G rs1159865
NM_033056.4(PCDH15):c.705+2_705+3insTT rs1554903836
NM_033056.4(PCDH15):c.706-17_706-14del rs886047068
NM_033056.4(PCDH15):c.706-21G>T rs140130958
NM_033056.4(PCDH15):c.706-3_717del rs769348776
NM_033056.4(PCDH15):c.706-8= rs10740579
NM_033056.4(PCDH15):c.706-8C>T rs10740579
NM_033056.4(PCDH15):c.709C>T (p.Arg237Cys) rs200798008
NM_033056.4(PCDH15):c.712G>A (p.Ala238Thr)
NM_033056.4(PCDH15):c.725A>C (p.Asn242Thr)
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.734G>A (p.Arg245Gln) rs562377533
NM_033056.4(PCDH15):c.785G>A (p.Gly262Asp) rs137853002
NM_033056.4(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.4(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_033056.4(PCDH15):c.805G>A (p.Val269Ile)
NM_033056.4(PCDH15):c.809T>G (p.Leu270Arg) rs727503367
NM_033056.4(PCDH15):c.824G>A (p.Arg275His)
NM_033056.4(PCDH15):c.832C>T (p.Arg278Cys)
NM_033056.4(PCDH15):c.833G>A (p.Arg278His)
NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_033056.4(PCDH15):c.851C>T (p.Ala284Val) rs777071595
NM_033056.4(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_033056.4(PCDH15):c.876+271A>G rs1342281
NM_033056.4(PCDH15):c.877-29G>T rs116339167
NM_033056.4(PCDH15):c.877-70G>A rs721825
NM_033056.4(PCDH15):c.877-94C>T rs12265855
NM_033056.4(PCDH15):c.882A>G (p.Glu294=) rs181232514
NM_033056.4(PCDH15):c.8G>A (p.Arg3Gln)
NM_033056.4(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_033056.4(PCDH15):c.907C>T (p.Pro303Ser)
NM_033056.4(PCDH15):c.91+289G>A rs55688625
NM_033056.4(PCDH15):c.913C>G (p.Gln305Glu) rs143058902
NM_033056.4(PCDH15):c.925C>A (p.Gln309Lys)
NM_033056.4(PCDH15):c.938T>A (p.Ile313Asn)
NM_033056.4(PCDH15):c.942A>G (p.Gln314=) rs149481989
NM_033056.4(PCDH15):c.944C>T (p.Pro315Leu)
NM_033056.4(PCDH15):c.945G>A (p.Pro315=) rs150450873
NM_033056.4(PCDH15):c.945G>T (p.Pro315=) rs150450873
NM_033056.4(PCDH15):c.947C>T (p.Pro316Leu) rs397517469
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502
NM_033056.4(PCDH15):c.952G>C (p.Asp318His)
NM_033056.4(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_033056.4(PCDH15):c.969C>A (p.Leu323=) rs994026891
NM_033056.4(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_033056.4(PCDH15):c.985+175T>A rs7915391
NM_033056.4(PCDH15):c.986-11A>G
NM_033056.4(PCDH15):c.986-259A>T rs2384421
NM_033056.4(PCDH15):c.986-81C>T rs10763086
PCDH15, 3-BP DEL, 5601AAC
PCDH15, IVS27, A-G, -2
Single allele

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