|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
|
NM_001384140.1(PCDH15):c.877-29G>T
|
rs116339167
|
0.01544
|
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01464
|
|
NM_001384140.1(PCDH15):c.475-3C>T
|
rs41304641
|
0.00837
|
|
NM_001384140.1(PCDH15):c.4672-1637G>A
|
rs139441645
|
0.00746
|
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
|
NM_001384140.1(PCDH15):c.4671+1053A>C
|
rs149208928
|
0.00562
|
|
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=)
|
rs112097891
|
0.00486
|
|
NM_001384140.1(PCDH15):c.3502-19T>C
|
rs199978794
|
0.00440
|
|
NM_001384140.1(PCDH15):c.4671+1087C>T
|
rs12359240
|
0.00438
|
|
NM_001384140.1(PCDH15):c.4671+1438A>C
|
rs16937768
|
0.00420
|
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00391
|
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00386
|
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00315
|
|
NM_001384140.1(PCDH15):c.3717+8G>C
|
rs200556301
|
0.00305
|
|
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)
|
rs148772706
|
0.00278
|
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00248
|
|
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_001384140.1(PCDH15):c.4671+1109C>T
|
rs145418788
|
0.00208
|
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00160
|
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00128
|
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00127
|
|
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.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00080
|
|
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)
|
rs151119732
|
0.00073
|
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
|
NM_001384140.1(PCDH15):c.4526A>G (p.Gln1509Arg)
|
rs115559383
|
0.00065
|
|
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=)
|
rs141281651
|
0.00064
|
|
NM_001384140.1(PCDH15):c.3877C>A (p.Arg1293=)
|
rs142034111
|
0.00064
|
|
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly)
|
rs146745502
|
0.00061
|
|
NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=)
|
rs377244811
|
0.00060
|
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
|
NM_001384140.1(PCDH15):c.4671+1046A>G
|
rs201855435
|
0.00048
|
|
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His)
|
rs142678284
|
0.00047
|
|
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=)
|
rs149481989
|
0.00043
|
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00040
|
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00037
|
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
|
NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser)
|
rs139547641
|
0.00034
|
|
NM_001384140.1(PCDH15):c.4803C>T (p.Gly1601=)
|
rs190105984
|
0.00032
|
|
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys)
|
rs141169746
|
0.00028
|
|
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351
|
0.00028
|
|
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)
|
rs138338096
|
0.00027
|
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
|
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg)
|
rs140716525
|
0.00024
|
|
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala)
|
rs150069992
|
0.00024
|
|
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)
|
rs148162562
|
0.00021
|
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555
|
0.00020
|
|
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro)
|
rs140516168
|
0.00019
|
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
|
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser)
|
rs189284385
|
0.00017
|
|
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)
|
rs147993163
|
0.00017
|
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00016
|
|
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=)
|
rs146374856
|
0.00016
|
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
|
NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala)
|
rs61731381
|
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_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)
|
rs145037203
|
0.00010
|
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
|
NM_033056.4(PCDH15):c.5196A>T (p.Glu1732Asp)
|
rs147717147
|
0.00009
|
|
NM_001384140.1(PCDH15):c.2751+9T>C
|
rs180804907
|
0.00008
|
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00008
|
|
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu)
|
rs397517455
|
0.00007
|
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=)
|
rs139873638
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3501+6C>T
|
rs370178425
|
0.00005
|
|
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
|
rs140047846
|
0.00005
|
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
0.00004
|
|
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His)
|
rs746610406
|
0.00004
|
|
NM_001384140.1(PCDH15):c.3717+10T>C
|
rs376158566
|
0.00004
|
|
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)
|
rs751539473
|
0.00004
|
|
NM_033056.4(PCDH15):c.4837G>A (p.Gly1613Arg)
|
rs876657563
|
0.00004
|
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
|
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn)
|
rs727503364
|
0.00004
|
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
|
NM_033056.4(PCDH15):c.5216A>T (p.Asn1739Ile)
|
rs772081755
|
0.00003
|
|
NM_001384140.1(PCDH15):c.1099G>T (p.Ala367Ser)
|
rs199537944
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser)
|
rs397517450
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
|
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr)
|
rs568865061
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
|
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)
|
rs752356781
|
0.00002
|
|
NM_033056.4(PCDH15):c.4592_4627dup (p.Ser1543Ter)
|
rs1442366836
|
0.00002
|
|
NM_033056.4(PCDH15):c.4717C>G (p.Leu1573Val)
|
rs202010562
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1385A>G (p.Tyr462Cys)
|
rs201284699
|
0.00001
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)
|
rs200226791
|
0.00001
|
|
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=)
|
rs1554940478
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=)
|
rs768200772
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly)
|
rs563855694
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
|
NM_001384140.1(PCDH15):c.4203-7C>T
|
rs1209357687
|
0.00001
|
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
|
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer)
|
rs746017823
|
0.00001
|
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
|
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=)
|
rs727504070
|
0.00001
|
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00001
|
|
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
|
rs779400054
|
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
|
|
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.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
|
NM_001384140.1(PCDH15):c.1306-6dup
|
rs750120473
|
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
rs1564497773
|
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
|
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=)
|
rs1565043296
|
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
|
NM_001384140.1(PCDH15):c.2868+2T>C
|
rs2091798175
|
|
|
NM_001384140.1(PCDH15):c.2869-6_2869-2del
|
rs752879165
|
|
|
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.3441dup (p.Phe1148fs)
|
rs770832663
|
|
|
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=)
|
rs774857947
|
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
|
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
|
rs753916542
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NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
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rs762129852
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NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
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rs137853003
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NM_001384140.1(PCDH15):c.4308GCC[3] (p.Pro1442_Pro1443del)
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rs559130985
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NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup)
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rs559130985
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NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
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rs559130985
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NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup)
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rs776051221
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NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
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rs764861755
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NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
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rs561144747
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NM_001384140.1(PCDH15):c.465A>G (p.Thr155=)
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rs559193058
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NM_001384140.1(PCDH15):c.4671+1160A>G
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NM_001384140.1(PCDH15):c.4671+1345G>C
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rs531574437
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NM_001384140.1(PCDH15):c.4672-1676A>C
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NM_001384140.1(PCDH15):c.4672-8_4672-4del
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rs528346155
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NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
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rs766484375
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NM_001384140.1(PCDH15):c.705+1G>A
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rs1554903842
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NM_033056.3(PCDH15):c.4368-13_4368-10dup
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rs530804327
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NM_033056.4(PCDH15):c.4368-3_4369dup
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rs866966373
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NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs)
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rs749884609
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NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs)
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rs781231890
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NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs)
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rs771473483
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NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
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rs730880357
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NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)
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rs545191822
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NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
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rs1491209806
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NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
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rs773160902
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NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs)
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rs918473867
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NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
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rs397517462
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NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1])
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rs727503363
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NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)
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rs397517463
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NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
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rs397517465
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NM_033056.4(PCDH15):c.5281_5292del (p.Ala1761_Pro1764del)
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rs397517465
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NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
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rs557936064
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NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
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rs397517466
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NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
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rs397517467
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NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
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rs1338600699
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NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
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rs748086016
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NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
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rs779691085
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NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
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rs753690225
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NM_033056.4(PCDH15):c.5516_5517del (p.Glu1839fs)
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rs1564531908
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NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
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rs770082088
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NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
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rs113363047
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NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs)
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rs794727570
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NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
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rs1287068204
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NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)
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rs568470164
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NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
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rs568470164
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Single allele
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