ClinVar Miner

List of variants in gene PCDH15

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 643
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HGVS dbSNP
GRCh37/hg19 10q21.1(chr10:54794207-56488063)x1
GRCh37/hg19 10q21.1(chr10:55199169-56857578)x4
GRCh37/hg19 10q21.1(chr10:55559110-55582905)x1
GRCh37/hg19 10q21.1(chr10:55776283-55874295)x1
GRCh37/hg19 10q21.1(chr10:55906378-56353687)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_000010.11:g.(54079425_54089983)_(54133008_54153099)del
NC_000010.11:g.(?_53976705)_(54036062_?)del
NC_000010.11:g.(?_54690788)_(54898513_?)del
NC_000010.11:g.53975703_54020155del44453
NC_000010.11:g.54344599_54348688del4090
NG_009191.3:g.1823601_1823612del rs1554816165
NG_009191.3:g.1827110_1827115dup rs1554814938
NG_009191.3:g.1827423_1827425dup rs1554814729
NG_009191.3:g.1827547_1827549del rs1554814635
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142763.1(PCDH15):c.1153G>A (p.Gly385Ser) rs10825269
NM_001142763.1(PCDH15):c.1278T>C (p.Thr426=) rs7921598
NM_001142763.1(PCDH15):c.2986C>T (p.Arg996Ter) rs754391973
NM_001142763.1(PCDH15):c.4389-3A>C
NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) rs111033362
NM_001142763.1(PCDH15):c.5385_5394delTCCTCTTCCT (p.Pro1796Leufs) rs753690225
NM_001142763.1(PCDH15):c.5586C>A (p.Ala1862=) rs111033445
NM_001142763.1:c.-189197_c.610-5166del
NM_001142769.2(PCDH15):c.4501_4503delGAA (p.Glu1501del) rs561144747
NM_001142769.2(PCDH15):c.4542_4543insA (p.Pro1515Thrfs) rs1554815895
NM_001142769.2(PCDH15):c.4562A>C (p.Glu1521Ala) rs149208928
NM_001142769.2(PCDH15):c.4575_4577delGGA (p.Glu1527del) rs1554815871
NM_001142769.2(PCDH15):c.4596C>T (p.Ile1532=) rs12359240
NM_001142769.2(PCDH15):c.4623A>C (p.Thr1541=) rs16937769
NM_001142769.2(PCDH15):c.4673_4676delTTAG (p.Val1558Glufs) rs483353074
NM_001142769.2(PCDH15):c.4726C>T (p.Gln1576Ter) rs1056396947
NM_001142769.2(PCDH15):c.4732C>T (p.Arg1578Cys) rs566386133
NM_001142769.2(PCDH15):c.4766_4767del (p.Leu1589Hisfs) rs1554815781
NM_001142769.2(PCDH15):c.4805_4808dup (p.Glu1604Ilefs) rs1343032451
NM_001142769.2(PCDH15):c.4853A>C (p.Glu1618Ala) rs11003863
NM_001142769.2(PCDH15):c.4853_4854delAGinsCC (p.Glu1618Ala) rs1554815737
NM_001142769.2(PCDH15):c.4854G>C (p.Glu1618Asp) rs531574437
NM_001142769.2(PCDH15):c.4864A>G (p.Ser1622Gly) rs372184022
NM_001142769.2(PCDH15):c.4864_4868dup (p.Ser1624Valfs) rs1554815732
NM_001142769.2(PCDH15):c.4901dup (p.Thr1635Aspfs) rs757596933
NM_001142769.2(PCDH15):c.4921G>T (p.Glu1641Ter) rs1467453189
NM_001142769.2(PCDH15):c.4927T>C (p.Ser1643Pro) rs730880021
NM_001142769.2(PCDH15):c.4929del (p.Thr1644Profs) rs778088114
NM_001142769.2(PCDH15):c.4947A>C (p.Glu1649Asp) rs16937768
NM_001142769.2(PCDH15):c.4958_4966dup (p.Ser1655_Glu1656insAlaGluSer) rs752753497
NM_001142769.2(PCDH15):c.4977A>G (p.Lys1659=)
NM_001142769.2(PCDH15):c.5032G>T (p.Glu1678Ter) rs755005336
NM_001142769.2(PCDH15):c.5113_5115delGAA (p.Glu1705del) rs730880019
NM_001142769.2(PCDH15):c.5125G>A (p.Ala1709Thr) rs371191414
NM_001142769.2(PCDH15):c.5142T>A (p.Ser1714Arg) rs886042518
NM_001142769.2(PCDH15):c.5151T>C (p.Pro1717=) rs182175548
NM_001142769.2(PCDH15):c.5217_5220dup (p.Glu1741Terfs) rs1554815534
NM_001142769.2(PCDH15):c.5226_5229dup (p.Glu1744Ilefs) rs1554815527
NM_001142769.2(PCDH15):c.5236G>A (p.Gly1746Ser) rs7090408
NM_001142769.2(PCDH15):c.5269G>T (p.Gly1757Ter) rs1297423576
NM_001142769.2(PCDH15):c.5278delT (p.Trp1760Glyfs) rs876657949
NM_001142769.2(PCDH15):c.5287_5291dup (p.Pro1765Argfs) rs1554815468
NM_001142769.2(PCDH15):c.5295A>G (p.Pro1765=) rs145178582
NM_001142769.2(PCDH15):c.5297C>T (p.Ala1766Val) rs775641445
NM_001142769.2(PCDH15):c.5298G>A (p.Ala1766=) rs139441645
NM_001142769.2(PCDH15):c.5328delGinsAGT (p.Lys1777Valfs) rs730880020
NM_001142769.2(PCDH15):c.5349T>C (p.Ser1783=) rs572152722
NM_001142769.2(PCDH15):c.5371T>C (p.Ter1791Arg) rs193186244
NM_001142770.2(PCDH15):c.4408A>G (p.Arg1470Gly) rs115559383
NM_001142770.2(PCDH15):c.4485C>A (p.Tyr1495Ter) rs1554816211
NM_001142770.2(PCDH15):c.4522G>A (p.Val1508Met) rs41274622
NM_001142770.2(PCDH15):c.788C>A (p.Pro263Gln)
NM_001142771.1(PCDH15):c.*14A>G rs876657950
NM_001142771.1(PCDH15):c.3389-4C>T rs111739360
NM_001142771.1(PCDH15):c.4497+1403_4497+1405dup rs1272584101
NM_001142771.1(PCDH15):c.4497+1511_4497+1519del rs1554815654
NM_001142771.1(PCDH15):c.4498-2A>G rs1554814991
NM_001142771.1(PCDH15):c.4498-4_4498-2dup rs773129893
NM_001142771.1(PCDH15):c.4514_4517dup (p.Lys1507Aspfs) rs1442769492
NM_001142771.1(PCDH15):c.4548del (p.Ser1517Alafs) rs778963761
NM_001142771.1(PCDH15):c.4554_4556dupAAC (p.Thr1519_Gly1520insThr) rs143978284
NM_001142771.1(PCDH15):c.4565_4568dup (p.Ser1523Argfs) rs1554814927
NM_001142771.1(PCDH15):c.4584G>A (p.Gln1528=) rs368096085
NM_001142771.1(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.1(PCDH15):c.4650_4657del (p.Ser1552Glufs) rs750833316
NM_001142771.1(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001142771.1(PCDH15):c.4692_4695dup (p.Lys1566Leufs) rs757520086
NM_001142771.1(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142771.1(PCDH15):c.4740del (p.Asp1581Thrfs) rs1554814800
NM_001142771.1(PCDH15):c.4814_4817dup (p.Met1606Ilefs) rs760669176
NM_001142771.1(PCDH15):c.4816dup (p.Met1606Asnfs)
NM_001142771.1(PCDH15):c.4848C>T (p.Ala1616=) rs377244811
NM_001142771.1(PCDH15):c.4908_4915del (p.Ser1636Argfs) rs1554814684
NM_001142771.1(PCDH15):c.4910_4911del (p.Thr1637Serfs) rs1320916581
NM_001142771.1(PCDH15):c.4918C>T (p.Gln1640Ter) rs1554814683
NM_001142771.1(PCDH15):c.4931_4934dupTTGA (p.Ser1646Terfs) rs770322907
NM_001142771.1(PCDH15):c.4932_4935dup (p.Ser1646Terfs) rs1198732380
NM_001142771.1(PCDH15):c.4934_4937dup (p.Ser1646Argfs) rs1554814669
NM_001142771.1(PCDH15):c.4950G>A (p.Lys1650=) rs74609306
NM_001142771.1(PCDH15):c.4982A>C (p.Gln1661Pro) rs17704703
NM_001142772.1(PCDH15):c.3127C>T (p.Pro1043Ser) rs189284385
NM_001142772.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del (p.(?))
NM_033056.3(PCDH15):c.*10251G>A rs1554816509
NM_033056.3(PCDH15):c.*11238C>T rs1554816210
NM_033056.3(PCDH15):c.*11249G>T rs1554816196
NM_033056.3(PCDH15):c.*12311G>A rs1554815909
NM_033056.3(PCDH15):c.*12348A>G rs201855435
NM_033056.3(PCDH15):c.*12379_*12384del6 rs1253885211
NM_033056.3(PCDH15):c.*12411C>T rs145418788
NM_033056.3(PCDH15):c.*127dupT rs548021914
NM_033056.3(PCDH15):c.*12852C>T rs765589050
NM_033056.3(PCDH15):c.*12861C>T rs368397508
NM_033056.3(PCDH15):c.*12888_*12890delGAA rs774006219
NM_033056.3(PCDH15):c.*12919_*12939del21 rs769671738
NM_033056.3(PCDH15):c.*13066delG rs1554815484
NM_033056.3(PCDH15):c.*135T>C rs886047058
NM_033056.3(PCDH15):c.*14764C>T rs770416107
NM_033056.3(PCDH15):c.*147_*150dupGATA rs886047057
NM_033056.3(PCDH15):c.*15110T>C rs755487351
NM_033056.3(PCDH15):c.*15271A>T rs1554814611
NM_033056.3(PCDH15):c.*268_*269delTT rs886047056
NM_033056.3(PCDH15):c.*366G>A rs187860910
NM_033056.3(PCDH15):c.*389G>A rs886047055
NM_033056.3(PCDH15):c.*414G>C rs16937780
NM_033056.3(PCDH15):c.*421C>T rs74134797
NM_033056.3(PCDH15):c.*486G>A rs549184328
NM_033056.3(PCDH15):c.*512G>C rs571779869
NM_033056.3(PCDH15):c.*558T>A rs886047054
NM_033056.3(PCDH15):c.*64A>T rs188426462
NM_033056.3(PCDH15):c.*9048G>A rs869312036
NM_033056.3(PCDH15):c.-126G>A rs551107079
NM_033056.3(PCDH15):c.-155G>C rs886047069
NM_033056.3(PCDH15):c.-180C>T rs375866561
NM_033056.3(PCDH15):c.-288T>C rs566733932
NM_033056.3(PCDH15):c.-2_1delAGA rs1555135527
NM_033056.3(PCDH15):c.-5A>G rs142016527
NM_033056.3(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904
NM_033056.3(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746
NM_033056.3(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.3(PCDH15):c.1045C>G (p.Leu349Val) rs1554841242
NM_033056.3(PCDH15):c.1086delT (p.Leu363Trpfs) rs199469706
NM_033056.3(PCDH15):c.1098+14A>G rs764625426
NM_033056.3(PCDH15):c.1102G>A (p.Glu368Lys) rs1554833865
NM_033056.3(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449
NM_033056.3(PCDH15):c.1141C>G (p.Leu381Val) rs373453298
NM_033056.3(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450
NM_033056.3(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936
NM_033056.3(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341
NM_033056.3(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_033056.3(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.3(PCDH15):c.1220C>T (p.Ser407Phe) rs886047067
NM_033056.3(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620
NM_033056.3(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.3(PCDH15):c.1305+1G>A rs758947077
NM_033056.3(PCDH15):c.1305+1G>C rs758947077
NM_033056.3(PCDH15):c.1305+1delG rs1554833699
NM_033056.3(PCDH15):c.1306-4086A>T
NM_033056.3(PCDH15):c.1306-4123C>T rs16905686
NM_033056.3(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146
NM_033056.3(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.3(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.3(PCDH15):c.1427C>T (p.Thr476Ile) rs967946862
NM_033056.3(PCDH15):c.1442T>C (p.Ile481Thr)
NM_033056.3(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_033056.3(PCDH15):c.1537T>C (p.Ser513Pro) rs876657951
NM_033056.3(PCDH15):c.1548G>A (p.Val516=) rs138177808
NM_033056.3(PCDH15):c.157+59097T>C rs75443986
NM_033056.3(PCDH15):c.158-16930T>C rs207470941
NM_033056.3(PCDH15):c.158-1G>A rs876657418
NM_033056.3(PCDH15):c.158-2A>T rs1304228309
NM_033056.3(PCDH15):c.1583T>A (p.Val528Asp) rs267606932
NM_033056.3(PCDH15):c.1590+15A>G rs565203752
NM_033056.3(PCDH15):c.1590+15_1590+19delAATAT rs202125339
NM_033056.3(PCDH15):c.1590+20A= rs7093302
NM_033056.3(PCDH15):c.1590+20A>G rs7093302
NM_033056.3(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006
NM_033056.3(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168
NM_033056.3(PCDH15):c.161C>T (p.Thr54Ile) rs727505253
NM_033056.3(PCDH15):c.1627delG (p.Glu543Argfs) rs1057516892
NM_033056.3(PCDH15):c.1631T>G (p.Ile544Ser) rs886047066
NM_033056.3(PCDH15):c.1637_1638delAT (p.Tyr546Terfs) rs1554816541
NM_033056.3(PCDH15):c.1649T>G (p.Val550Gly) rs61735482
NM_033056.3(PCDH15):c.1653G>A (p.Gly551=) rs141281651
NM_033056.3(PCDH15):c.16delT (p.Tyr6Ilefs) rs397517451
NM_033056.3(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.3(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.3(PCDH15):c.1770_1771delTC (p.Pro591Cysfs) rs1057517150
NM_033056.3(PCDH15):c.1784+11T>G rs769008985
NM_033056.3(PCDH15):c.1785-2A>C rs1057516474
NM_033056.3(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_033056.3(PCDH15):c.1830_1833delTCAA (p.Asn610Lysfs) rs1057517261
NM_033056.3(PCDH15):c.189A>G (p.Lys63=) rs1554940478
NM_033056.3(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.3(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.3(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888
NM_033056.3(PCDH15):c.1917+2T>C rs1554806149
NM_033056.3(PCDH15):c.1917+33_1917+34delGT rs5785040
NM_033056.3(PCDH15):c.1917+33_1917+34dupGT rs5785040
NM_033056.3(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_033056.3(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.3(PCDH15):c.1934G>T (p.Gly645Val) rs763226433
NM_033056.3(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_033056.3(PCDH15):c.195T>C (p.Thr65=) rs770371293
NM_033056.3(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707
NM_033056.3(PCDH15):c.1997+1G>A rs763797356
NM_033056.3(PCDH15):c.1997+1G>T rs763797356
NM_033056.3(PCDH15):c.1998-13G>A rs727504616
NM_033056.3(PCDH15):c.1998-2A>G rs397517452
NM_033056.3(PCDH15):c.1998C>T (p.Thr666=) rs754253198
NM_033056.3(PCDH15):c.19C>A (p.Leu7Ile) rs762092314
NM_033056.3(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_033056.3(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_033056.3(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259
NM_033056.3(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_033056.3(PCDH15):c.2091+2T>C rs1554956023
NM_033056.3(PCDH15):c.2092-6T>C rs780684363
NM_033056.3(PCDH15):c.2102C>T (p.Ala701Val) rs199537178
NM_033056.3(PCDH15):c.2120T>G (p.Val707Gly) rs942872443
NM_033056.3(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515
NM_033056.3(PCDH15):c.2161C>G (p.Leu721Val) rs794727217
NM_033056.3(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_033056.3(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562
NM_033056.3(PCDH15):c.2220+9A>G rs886047065
NM_033056.3(PCDH15):c.2277T>C (p.Phe759=)
NM_033056.3(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057
NM_033056.3(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234
NM_033056.3(PCDH15):c.2367_2369delTGT (p.Val790del) rs483352837
NM_033056.3(PCDH15):c.2379T>C (p.Asp793=) rs148920891
NM_033056.3(PCDH15):c.2385A>G (p.Ala795=) rs61731362
NM_033056.3(PCDH15):c.2396G>A (p.Arg799His) rs199824864
NM_033056.3(PCDH15):c.2419dupA (p.Ile807Asnfs) rs781148814
NM_033056.3(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.3(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.3(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453
NM_033056.3(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.3(PCDH15):c.2487dupA (p.Glu830Argfs) rs757027638
NM_033056.3(PCDH15):c.2538C>T (p.Val846=) rs727504573
NM_033056.3(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551
NM_033056.3(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.3(PCDH15):c.2581G>A (p.Val861Met) rs142512524
NM_033056.3(PCDH15):c.2619A>G (p.Glu873=) rs150784450
NM_033056.3(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_033056.3(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.3(PCDH15):c.2691G>C (p.Glu897Asp) rs876657952
NM_033056.3(PCDH15):c.2709A>G (p.Gly903=) rs886047064
NM_033056.3(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826
NM_033056.3(PCDH15):c.2721T>G (p.Pro907=) rs727504835
NM_033056.3(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.3(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_033056.3(PCDH15):c.2751+2T>C rs754543131
NM_033056.3(PCDH15):c.2751+37C>T rs3812658
NM_033056.3(PCDH15):c.2751+43C>G rs2660169
NM_033056.3(PCDH15):c.2768C>T (p.Pro923Leu) rs191577774
NM_033056.3(PCDH15):c.2769T>C (p.Pro923=) rs727503366
NM_033056.3(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.3(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.3(PCDH15):c.2799G>C (p.Gly933=) rs139853291
NM_033056.3(PCDH15):c.2807C>T (p.Ala936Val) rs369029215
NM_033056.3(PCDH15):c.2811G>A (p.Pro937=) rs1449039709
NM_033056.3(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066
NM_033056.3(PCDH15):c.2825delG (p.Gly942Valfs) rs758685587
NM_033056.3(PCDH15):c.2859A>C (p.Ala953=) rs375965861
NM_033056.3(PCDH15):c.2869-1G>T rs1554883705
NM_033056.3(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.3(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.3(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.3(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_033056.3(PCDH15):c.2908G>A (p.Val970Ile) rs138338096
NM_033056.3(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423
NM_033056.3(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859
NM_033056.3(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.3(PCDH15):c.299delG (p.Gly100Glufs) rs1554940316
NM_033056.3(PCDH15):c.29delG (p.Cys10Phefs) rs1555135419
NM_033056.3(PCDH15):c.3009+7G>A rs201161336
NM_033056.3(PCDH15):c.3010-48G>A rs2593107
NM_033056.3(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.3(PCDH15):c.3023delC (p.Ala1008Valfs) rs1057517284
NM_033056.3(PCDH15):c.3040_3047dup (p.Met1016Ilefs) rs1554882652
NM_033056.3(PCDH15):c.3082delC (p.His1028Ilefs) rs1057517325
NM_033056.3(PCDH15):c.3122+2T>A rs1554882546
NM_033056.3(PCDH15):c.3122+3A>G rs373365331
NM_033056.3(PCDH15):c.3123-1G>A rs1554873550
NM_033056.3(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455
NM_033056.3(PCDH15):c.319-31T>C rs11594958
NM_033056.3(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.3(PCDH15):c.3211delA (p.Ile1071Leufs) rs1057516974
NM_033056.3(PCDH15):c.3233-2A>G rs1554872194
NM_033056.3(PCDH15):c.323delC (p.Pro108Argfs) rs1554934073
NM_033056.3(PCDH15):c.3276T>C (p.Asn1092=) rs772160626
NM_033056.3(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.3(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.3(PCDH15):c.3327T>C (p.Ala1109=) rs1554871942
NM_033056.3(PCDH15):c.333dupA (p.His112Thrfs) rs1057516992
NM_033056.3(PCDH15):c.3341delT (p.Val1114Glyfs) rs1057516656
NM_033056.3(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494
NM_033056.3(PCDH15):c.3373+3A>G rs397517456
NM_033056.3(PCDH15):c.3374-16G>A rs139684809
NM_033056.3(PCDH15):c.3374-1G>T rs1554852472
NM_033056.3(PCDH15):c.3419_3421delATC (p.His1140del) rs1554852410
NM_033056.3(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.3(PCDH15):c.3441dupA (p.Phe1148Ilefs) rs770832663
NM_033056.3(PCDH15):c.3444C>T (p.Phe1148=) rs876657562
NM_033056.3(PCDH15):c.3450C>A (p.Ile1150=) rs146374856
NM_033056.3(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.3(PCDH15):c.3498G>A (p.Val1166=) rs1554852336
NM_033056.3(PCDH15):c.3501+13A>G rs727503365
NM_033056.3(PCDH15):c.3501+1G>T rs1402893508
NM_033056.3(PCDH15):c.3501+7G>T rs756402556
NM_033056.3(PCDH15):c.3502-10delC rs750835578
NM_033056.3(PCDH15):c.3502-14delT rs5785023
NM_033056.3(PCDH15):c.3502-14dup rs5785023
NM_033056.3(PCDH15):c.3502-2A>G rs1554836566
NM_033056.3(PCDH15):c.3502-8C>T rs184144118
NM_033056.3(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187
NM_033056.3(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.3(PCDH15):c.3585T>C (p.Phe1195=) rs397517457
NM_033056.3(PCDH15):c.358_359delTG (p.Cys120Hisfs) rs1057517264
NM_033056.3(PCDH15):c.3596C>T (p.Thr1199Ile) rs794727445
NM_033056.3(PCDH15):c.3653delT (p.Phe1218Serfs) rs1057516268
NM_033056.3(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775
NM_033056.3(PCDH15):c.3679G>A (p.Asp1227Asn) rs368127988
NM_033056.3(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_033056.3(PCDH15):c.369A>G (p.Lys123=) rs1317246200
NM_033056.3(PCDH15):c.3717+10T>C rs376158566
NM_033056.3(PCDH15):c.3717+1G>A rs748706627
NM_033056.3(PCDH15):c.3717+2dup rs1248401224
NM_033056.3(PCDH15):c.3717+8G>C rs200556301
NM_033056.3(PCDH15):c.3718-19C>A rs75248212
NM_033056.3(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458
NM_033056.3(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.3(PCDH15):c.3731_3734delATCA (p.Asn1244Serfs) rs1554833314
NM_033056.3(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
NM_033056.3(PCDH15):c.3791_3794delTAGA (p.Ile1264Lysfs) rs1554833249
NM_033056.3(PCDH15):c.3792_3798dup (p.Leu1267Argfs) rs1554833242
NM_033056.3(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.3(PCDH15):c.3806+1G>C rs1554833227
NM_033056.3(PCDH15):c.3806+2T>C rs756692340
NM_033056.3(PCDH15):c.3807-2A>G rs1328440878
NM_033056.3(PCDH15):c.3807-6T>G rs727504791
NM_033056.3(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.3(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_033056.3(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_033056.3(PCDH15):c.3877C>A (p.Arg1293=) rs142034111
NM_033056.3(PCDH15):c.3885_3889dup (p.Ala1297Glufs) rs1057516780
NM_033056.3(PCDH15):c.3936A>G (p.Ala1312=) rs398124433
NM_033056.3(PCDH15):c.3942C>G (p.Asp1314Glu)
NM_033056.3(PCDH15):c.394dupG (p.Glu132Glyfs) rs397515566
NM_033056.3(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_033056.3(PCDH15):c.3983+12T>C rs149867749
NM_033056.3(PCDH15):c.3983+1G>T rs758921360
NM_033056.3(PCDH15):c.3983+2dup rs1554827124
NM_033056.3(PCDH15):c.3984-1G>C rs1057520709
NM_033056.3(PCDH15):c.3984-20C>T rs7089209
NM_033056.3(PCDH15):c.3984-2A>G rs1554824185
NM_033056.3(PCDH15):c.4006_4008dup (p.Asp1336_Ile1337insAsp) rs1554824158
NM_033056.3(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_033056.3(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.3(PCDH15):c.4035T>A (p.Tyr1345Ter) rs1057520678
NM_033056.3(PCDH15):c.4049G>A (p.Arg1350His) rs752356781
NM_033056.3(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.3(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449
NM_033056.3(PCDH15):c.4114_4119del6 (p.Tyr1372_Thr1373del) rs1394411772
NM_033056.3(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783
NM_033056.3(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_033056.3(PCDH15):c.4147delA (p.Ile1383Serfs) rs1554824058
NM_033056.3(PCDH15):c.416_444del29 (p.Asp139Alafs) rs1057517182
NM_033056.3(PCDH15):c.4197_4198insGTAG (p.Arg1400Valfs) rs1057516821
NM_033056.3(PCDH15):c.4202+5G>A rs886047063
NM_033056.3(PCDH15):c.4211+1G>A rs1554823229
NM_033056.3(PCDH15):c.4211+1delG rs1554823231
NM_033056.3(PCDH15):c.4211+2T>G rs753832779
NM_033056.3(PCDH15):c.4211+2dupT rs1057517419
NM_033056.3(PCDH15):c.4213C>G (p.Arg1405Gly) rs148046721
NM_033056.3(PCDH15):c.4214G>A (p.Arg1405His) rs143538460
NM_033056.3(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_033056.3(PCDH15):c.4231_4234dup (p.Thr1412Lysfs) rs1554822897
NM_033056.3(PCDH15):c.4237_4238delGC (p.Ala1413Thrfs) rs1554822891
NM_033056.3(PCDH15):c.4247_4258del12 (p.Gln1416_Leu1419del) rs1296979751
NM_033056.3(PCDH15):c.4249G>A (p.Ala1417Thr) rs1284117885
NM_033056.3(PCDH15):c.4272A>G (p.Pro1424=) rs759109238
NM_033056.3(PCDH15):c.4294G>C (p.Val1432Leu) rs886043533
NM_033056.3(PCDH15):c.4305_4310dup (p.Pro1443_Gly1444insProPro) rs1327987212
NM_033056.3(PCDH15):c.4306_4308CCG[7] (p.Pro1443_Gly1444insProPro) rs559130985
NM_033056.3(PCDH15):c.4311_4322dup (p.Pro1443_Gly1444insProProProPro) rs559130985
NM_033056.3(PCDH15):c.4313delC (p.Pro1438Argfs) rs1057516351
NM_033056.3(PCDH15):c.4314G>A (p.Pro1438=) rs535913178
NM_033056.3(PCDH15):c.4314_4322del9 (p.Pro1441_Pro1443del) rs559130985
NM_033056.3(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898
NM_033056.3(PCDH15):c.4317G>A (p.Pro1439=) rs370470900
NM_033056.3(PCDH15):c.4317_4328dup (p.Pro1443_Gly1444insProProProPro) rs1554822754
NM_033056.3(PCDH15):c.4320G>A (p.Pro1440=) rs12246234
NM_033056.3(PCDH15):c.4320_4322dup (p.Pro1443_Gly1444insPro) rs559130985
NM_033056.3(PCDH15):c.4328_4329insGCCTCCGCC (p.Pro1443_Gly1444insProProPro) rs776051221
NM_033056.3(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.3(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_033056.3(PCDH15):c.4367+1G>A rs1057516613
NM_033056.3(PCDH15):c.4367+2T>C rs1554822703
NM_033056.3(PCDH15):c.4367+8G>A rs727504745
NM_033056.3(PCDH15):c.4368-13_4368-10dupCTTT rs530804327
NM_033056.3(PCDH15):c.4368-15_4368-2del14 rs1057516560
NM_033056.3(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.3(PCDH15):c.4368-2A>T rs989521806
NM_033056.3(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.3(PCDH15):c.4368-76C>T rs375657329
NM_033056.3(PCDH15):c.4368-77G>A rs776152870
NM_033056.3(PCDH15):c.4368-77delG rs1554821197
NM_033056.3(PCDH15):c.4368-79_4368-76delGAGC rs1554821194
NM_033056.3(PCDH15):c.4368-9_4368-5dup rs1452730552
NM_033056.3(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.3(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.3(PCDH15):c.4399_4410dup (p.Asn1470_Ser1471insArgGlyAsnAsn) rs1554821093
NM_033056.3(PCDH15):c.4409_4413dup (p.Val1472Thrfs) rs749884609
NM_033056.3(PCDH15):c.4410_4420del11 (p.Asn1470Lysfs) rs767621707
NM_033056.3(PCDH15):c.4438_4440delCAA (p.Gln1480del) rs1358121247
NM_033056.3(PCDH15):c.4459T>C (p.Ser1487Pro) rs727504071
NM_033056.3(PCDH15):c.4462_4469dup (p.Glu1491Ilefs) rs774056663
NM_033056.3(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.3(PCDH15):c.4546_4553dup (p.Glu1519Tyrfs) rs1554820916
NM_033056.3(PCDH15):c.4548_4551delATCT (p.Ser1517Metfs) rs1233449433
NM_033056.3(PCDH15):c.4556_4557dup (p.Asp1520Argfs) rs1554820902
NM_033056.3(PCDH15):c.4561_4565dup (p.Ser1523Thrfs) rs1554820894
NM_033056.3(PCDH15):c.4563_4566dup (p.Ser1523Leufs) rs1554820891
NM_033056.3(PCDH15):c.4568G>A (p.Ser1523Asn) rs1377421029
NM_033056.3(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.3(PCDH15):c.4592A>G (p.Glu1531Gly) rs397517460
NM_033056.3(PCDH15):c.4599_4602dupAAGT (p.Gln1535Lysfs) rs781231890
NM_033056.3(PCDH15):c.4603_4607del5 (p.Gln1535Ilefs) rs771473483
NM_033056.3(PCDH15):c.4608A>G (p.Val1536=) rs727504070
NM_033056.3(PCDH15):c.4618delT (p.Ser1540Glnfs) rs1554820847
NM_033056.3(PCDH15):c.4621_4624dup (p.Ile1542Argfs) rs1363726588
NM_033056.3(PCDH15):c.4639_4656dup (p.Phe1552_Ser1553insAspPheValAspProPhe) rs1554820809
NM_033056.3(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_033056.3(PCDH15):c.466G>C (p.Val156Leu) rs534173969
NM_033056.3(PCDH15):c.4677G>A (p.Lys1559=) rs375077719
NM_033056.3(PCDH15):c.4681_4684dupAAGT (p.Ser1562Terfs) rs730880357
NM_033056.3(PCDH15):c.4705_4708dup (p.Ile1570Lysfs) rs1554820749
NM_033056.3(PCDH15):c.470A>G (p.Asn157Ser) rs727503368
NM_033056.3(PCDH15):c.4719G>A (p.Leu1573=) rs529962978
NM_033056.3(PCDH15):c.4724_4726dup (p.Ser1575_Gln1576insArg) rs762814533
NM_033056.3(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.3(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181
NM_033056.3(PCDH15):c.4733_4736dup (p.Leu1580Glnfs) rs770063261
NM_033056.3(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.3(PCDH15):c.475-3C>T rs41304641
NM_033056.3(PCDH15):c.4754dup (p.Met1585Ilefs) rs1554820712
NM_033056.3(PCDH15):c.4768_4771dup (p.Arg1591Lysfs) rs1554820690
NM_033056.3(PCDH15):c.4769_4771dup (p.Asn1590_Arg1591insAsn) rs1554820687
NM_033056.3(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.3(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780
NM_033056.3(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.3(PCDH15):c.4810A>C (p.Arg1604=) rs558224212
NM_033056.3(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.3(PCDH15):c.4812delG (p.Arg1604Serfs) rs1554820651
NM_033056.3(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.3(PCDH15):c.4831_4834dupAACA (p.Thr1612Lysfs) rs545191822
NM_033056.3(PCDH15):c.4832delA (p.Asn1611Thrfs) rs1554820630
NM_033056.3(PCDH15):c.4834dup (p.Thr1612Asnfs) rs1554820628
NM_033056.3(PCDH15):c.4837G>A (p.Gly1613Arg) rs876657563
NM_033056.3(PCDH15):c.4853_4864dup (p.Ser1621_Ser1622insLysArgGlySer) rs1554820580
NM_033056.3(PCDH15):c.4875_4894del20 (p.Leu1626Phefs) rs772393186
NM_033056.3(PCDH15):c.4875_4896del22 (p.Leu1625Phefs) rs1240582095
NM_033056.3(PCDH15):c.4884T>C (p.Thr1628=) rs16937781
NM_033056.3(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160
NM_033056.3(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr) rs1554820541
NM_033056.3(PCDH15):c.4905_4907dup (p.Lys1636_Glu1637insLys) rs750133663
NM_033056.3(PCDH15):c.4907_4908delAA (p.Lys1636Argfs) rs1491209806
NM_033056.3(PCDH15):c.4915_4918dup (p.Arg1640Asnfs) rs780945310
NM_033056.3(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.3(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831
NM_033056.3(PCDH15):c.4925delG (p.Gly1642Valfs) rs1554820498
NM_033056.3(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.3(PCDH15):c.4955_4963dup (p.Ser1655_Leu1955del) rs1554820445
NM_033056.3(PCDH15):c.4968_4970dup (p.Ser1658_Asp1659insSer) rs1554820428
NM_033056.3(PCDH15):c.4970_4971delCT (p.Ser1657Phefs) rs1491078644
NM_033056.3(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.3(PCDH15):c.4974A>C (p.Ser1658=) rs147993163
NM_033056.3(PCDH15):c.4983_4986dup (p.Cys1663Ilefs) rs1554820394
NM_033056.3(PCDH15):c.4987dup (p.Cys1663Leufs) rs775238614
NM_033056.3(PCDH15):c.4993C>A (p.Pro1665Thr) rs886047062
NM_033056.3(PCDH15):c.5003_5007dup (p.Ser1670Thrfs) rs1554820378
NM_033056.3(PCDH15):c.5010_5015delATTCTC (p.Phe1671_Ser1672del) rs766452153
NM_033056.3(PCDH15):c.5014_5022dup (p.Leu1674_Pro1675insSerThrLeu) rs1554820353
NM_033056.3(PCDH15):c.5029_5032dup (p.Ser1678Cysfs) rs773160902
NM_033056.3(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666
NM_033056.3(PCDH15):c.5047_5050dup (p.Lys1684Thrfs) rs1554820332
NM_033056.3(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812
NM_033056.3(PCDH15):c.5061_5067dup (p.Ile1690Terfs) rs1554820318
NM_033056.3(PCDH15):c.5109_5129del21 (p.Arg1704_Ser1710del) rs1554820270
NM_033056.3(PCDH15):c.5136_5139dup (p.Arg1714Leufs) rs1554820255
NM_033056.3(PCDH15):c.5161_5162delAT (p.Met1721Valfs) rs1554820230
NM_033056.3(PCDH15):c.5177C>T (p.Thr1726Ile) rs772619593
NM_033056.3(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364
NM_033056.3(PCDH15):c.5193dup (p.Glu1732Terfs) rs1554820212
NM_033056.3(PCDH15):c.521A>G (p.Asn174Ser) rs145037203
NM_033056.3(PCDH15):c.5245_5271del (p.Pro1752_Pro1760del) rs767526540
NM_033056.3(PCDH15):c.5252_5259del8 (p.Pro1751Leufs) rs1554820145
NM_033056.3(PCDH15):c.5254_5256delCCT (p.Pro1752del) rs397517462
NM_033056.3(PCDH15):c.5257_5262del6 (p.Ile1753_Ser1754del) rs1554820140
NM_033056.3(PCDH15):c.5257_5268dup (p.Pro1756_Ser1757insIleSerProPro) rs756858099
NM_033056.3(PCDH15):c.5257_5277del21 (p.Ile1753_Pro1759del) rs752658191
NM_033056.3(PCDH15):c.5269_5277delTCTCCTCCT (p.Ser1757_Pro1759del) rs727503363
NM_033056.3(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.3(PCDH15):c.5269_5295del27 (p.Ser1757_Leu1765del) rs957797299
NM_033056.3(PCDH15):c.5274_5278del5 (p.Pro1759Cysfs) rs1554820127
NM_033056.3(PCDH15):c.5275_5280del6 (p.Pro1759_Pro1760del) rs754779351
NM_033056.3(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464
NM_033056.3(PCDH15):c.5278_5280dup (p.Pro1760_Ala1761insPro) rs754779351
NM_033056.3(PCDH15):c.5278_5286delCCTGCTCCT (p.Pro1760_Pro1762del) rs373916538
NM_033056.3(PCDH15):c.5280_5342del63 (p.Ala1761_Pro1781del) rs1554820012
NM_033056.3(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.3(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.3(PCDH15):c.5287_5292delGCTCCT (p.Ala1763_Pro1764del) rs397517465
NM_033056.3(PCDH15):c.5294_5302delTTGCTCCTC (p.Leu1765_Pro1767del) rs557936064
NM_033056.3(PCDH15):c.5294_5302dup (p.Pro1767_Pro1768insLeuAlaPro) rs557936064
NM_033056.3(PCDH15):c.5296_5304del9 (p.Ala1766_Pro1768del) rs397517466
NM_033056.3(PCDH15):c.5296_5304dupGCTCCTCCT (p.Pro1768_Pro1769insAlaProPro) rs397517466
NM_033056.3(PCDH15):c.5308_5310delGAC (p.Asp1770del) rs1554820073
NM_033056.3(PCDH15):c.5313T>G (p.Ile1771Met) rs886047061
NM_033056.3(PCDH15):c.5317_5319delCCT (p.Pro1773del) rs1415161284
NM_033056.3(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797
NM_033056.3(PCDH15):c.5327_5335delTTTTTTGTC (p.Leu1776_Cys1778del) rs397517467
NM_033056.3(PCDH15):c.5332dup (p.Cys1778Leufs) rs1338600699
NM_033056.3(PCDH15):c.5334T>C (p.Cys1778=) rs727503362
NM_033056.3(PCDH15):c.5336delC (p.Pro1779Leufs) rs1554820022
NM_033056.3(PCDH15):c.5343delC (p.Ser1782Leufs) rs1554820009
NM_033056.3(PCDH15):c.5346T>A (p.Ser1782=) rs397517468
NM_033056.3(PCDH15):c.5347_5363del17 (p.Pro1783Serfs) rs748086016
NM_033056.3(PCDH15):c.5349T>G (p.Pro1783=) rs727505113
NM_033056.3(PCDH15):c.5349_5359del11 (p.Pro1784Serfs) rs1554819982
NM_033056.3(PCDH15):c.5352T>A (p.Pro1784=) rs727505100
NM_033056.3(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.3(PCDH15):c.5355_5365del11 (p.Ile1786Serfs) rs1554819970
NM_033056.3(PCDH15):c.5357dup (p.Leu1788Serfs) rs1376879405
NM_033056.3(PCDH15):c.5358C>A (p.Ile1786=) rs727503361
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.3(PCDH15):c.5361_5376del16 (p.Pro1789Hisfs) rs1554819957
NM_033056.3(PCDH15):c.5369_5374delTTCCTC (p.Leu1790_Pro1791del) rs779691085
NM_033056.3(PCDH15):c.5369_5374dup (p.Pro1791_Pro1792insLeuPro) rs779691085
NM_033056.3(PCDH15):c.5372C>T (p.Pro1791Leu) rs1268531021
NM_033056.3(PCDH15):c.5388dup (p.Pro1797Serfs) rs1554819925
NM_033056.3(PCDH15):c.5397C>T (p.Ser1799=) rs367881384
NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.3(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.3(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.3(PCDH15):c.5424A>C (p.Pro1808=) rs753289924
NM_033056.3(PCDH15):c.5430_5438del9 (p.Leu1811_Pro1813del) rs1554819833
NM_033056.3(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.3(PCDH15):c.5439A>C (p.Pro1813=) rs150303579
NM_033056.3(PCDH15):c.5445_5456del12 (p.Thr1816_Pro1819del) rs764759018
NM_033056.3(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006
NM_033056.3(PCDH15):c.5463_5489del27 (p.Pro1823_Pro1831del) rs1554819787
NM_033056.3(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.3(PCDH15):c.5472_5495del24 (p.Ile1825_Ser1832del) rs763534924
NM_033056.3(PCDH15):c.5480G>T (p.Cys1827Phe) rs776844300
NM_033056.3(PCDH15):c.5513_5514delCA (p.Thr1838Argfs) rs1554819767
NM_033056.3(PCDH15):c.5520dup (p.Val1841Cysfs) rs1554819761
NM_033056.3(PCDH15):c.5543G>T (p.Cys1848Phe) rs752231055
NM_033056.3(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.3(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
NM_033056.3(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.3(PCDH15):c.5566G>A (p.Glu1856Lys) rs371269732
NM_033056.3(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.3(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.3(PCDH15):c.5600_5603delCAACinsT (p.Thr1867_Thr1868delinsMet) rs1554819686
NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del) rs113363047
NM_033056.3(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.3(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092
NM_033056.3(PCDH15):c.5617dup (p.Thr1873Asnfs) rs1554819653
NM_033056.3(PCDH15):c.5619_5623dup (p.Pro1875Glnfs) rs1418472770
NM_033056.3(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894
NM_033056.3(PCDH15):c.5630_5633delGAGA (p.Arg1877Asnfs) rs794727570
NM_033056.3(PCDH15):c.5632_5633delGA (p.Glu1878Thrfs) rs794727570
NM_033056.3(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.3(PCDH15):c.5682dup (p.Ser1895Ilefs) rs1287068204
NM_033056.3(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.3(PCDH15):c.5702_5705dup (p.Ile1903Serfs) rs1554819570
NM_033056.3(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.3(PCDH15):c.5710_5711delGA (p.Glu1904Lysfs) rs1554819558
NM_033056.3(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.3(PCDH15):c.5721_5724dup (p.Arg1909Serfs) rs568470164
NM_033056.3(PCDH15):c.5726G>A (p.Arg1909His) rs145851144
NM_033056.3(PCDH15):c.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.3(PCDH15):c.5743_5766del24 (p.Leu1915_Glu1922del) rs1554819513
NM_033056.3(PCDH15):c.5753delT (p.Met1918Serfs) rs1554819525
NM_033056.3(PCDH15):c.575A>G (p.Gln192Arg) rs201496062
NM_033056.3(PCDH15):c.5798_5816dup (p.Asn1939Lysfs) rs755876430
NM_033056.3(PCDH15):c.5805G>T (p.Gly1935=) rs727504069
NM_033056.3(PCDH15):c.5806_5807delAG (p.Ser1936Phefs) rs1554819488
NM_033056.3(PCDH15):c.5806delA (p.Ser1936Valfs) rs1554819493
NM_033056.3(PCDH15):c.5818_5820dup (p.Ile1940_Val1941insIle) rs750168790
NM_033056.3(PCDH15):c.5838_5841delACAA (p.Lys1946Asnfs) rs1368908688
NM_033056.3(PCDH15):c.5849_5852dup (p.Thr1953Ilefs) rs757543551
NM_033056.3(PCDH15):c.5863delC (p.Leu1955Cysfs) rs1554819436
NM_033056.3(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980
NM_033056.3(PCDH15):c.593C>T (p.Pro198Leu) rs145232643
NM_033056.3(PCDH15):c.594+1G>T rs1057516470
NM_033056.3(PCDH15):c.594G>A (p.Pro198=) rs368308772
NM_033056.3(PCDH15):c.607A>G (p.Thr203Ala) rs200975767
NM_033056.3(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_033056.3(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_033056.3(PCDH15):c.679C>T (p.Arg227Cys) rs565693539
NM_033056.3(PCDH15):c.705+1G>A rs1554903842
NM_033056.3(PCDH15):c.705+2_705+3insTT rs1554903836
NM_033056.3(PCDH15):c.706-17_706-14delGTTT rs886047068
NM_033056.3(PCDH15):c.706-3_717delCAGGACCGTGCCCAA rs769348776
NM_033056.3(PCDH15):c.706-8C= rs10740579
NM_033056.3(PCDH15):c.706-8C>T rs10740579
NM_033056.3(PCDH15):c.709C>T (p.Arg237Cys) rs200798008
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.3(PCDH15):c.734G>A (p.Arg245Gln) rs562377533
NM_033056.3(PCDH15):c.785G>A (p.Gly262Asp) rs137853002
NM_033056.3(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.3(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_033056.3(PCDH15):c.809T>G (p.Leu270Arg) rs727503367
NM_033056.3(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_033056.3(PCDH15):c.851C>T (p.Ala284Val) rs777071595
NM_033056.3(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_033056.3(PCDH15):c.877-29G>T rs116339167
NM_033056.3(PCDH15):c.901dupA (p.Thr301Asnfs) rs1057517048
NM_033056.3(PCDH15):c.913C>G (p.Gln305Glu) rs143058902
NM_033056.3(PCDH15):c.942A>G (p.Gln314=) rs149481989
NM_033056.3(PCDH15):c.947C>T (p.Pro316Leu) rs397517469
NM_033056.3(PCDH15):c.949T>A (p.Ser317Thr) rs140736502
NM_033056.3(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_033056.3(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_033056.3:c.+15180G>A
NM_033056.3:c.+15212A>C
NM_033056.3:c.5266_5319del54 rs1554820050
NM_033056.3:c.5486delC
NM_033056.3:c.5847_5848del
NM_033056.3:c.92-13779_157+41368del
PCDH15, 3-BP DEL, 5601AAC
PCDH15, IVS27, A-G, -2

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