NM_001384140.1(PCDH15):c.319-251G>T
|
rs1342308
|
0.95288
|
NM_001384140.1(PCDH15):c.986-259A>T
|
rs2384421
|
0.90532
|
NM_001384140.1(PCDH15):c.2091+141T>C
|
rs1911433
|
0.81633
|
NM_001384140.1(PCDH15):c.2869-109T>C
|
rs2456699
|
0.77156
|
NM_001384140.1(PCDH15):c.877-70G>A
|
rs721825
|
0.76194
|
NM_001384140.1(PCDH15):c.985+175T>A
|
rs7915391
|
0.76159
|
NM_001384140.1(PCDH15):c.3123-238A>G
|
rs2384340
|
0.75849
|
NM_001384140.1(PCDH15):c.3374-72A>G
|
rs2593124
|
0.75471
|
NM_001384140.1(PCDH15):c.705+93C>T
|
rs857395
|
0.74876
|
NM_001384140.1(PCDH15):c.3374-68T>G
|
rs10740559
|
0.74015
|
NM_001384140.1(PCDH15):c.705+225T>C
|
rs857394
|
0.73979
|
NM_001384140.1(PCDH15):c.595-252G>A
|
rs857396
|
0.73958
|
NM_001384140.1(PCDH15):c.706-8C>T
|
rs10740579
|
0.71606
|
NM_001384140.1(PCDH15):c.876+271A>G
|
rs1342281
|
0.71587
|
NM_001384140.1(PCDH15):c.3010-342T>C
|
rs2446611
|
0.71350
|
NM_001384140.1(PCDH15):c.3010-343T>C
|
rs2446610
|
0.71350
|
NM_001384140.1(PCDH15):c.986-81C>T
|
rs10763086
|
0.71010
|
NM_001384140.1(PCDH15):c.3010-48G>A
|
rs2593107
|
0.70086
|
NM_001384140.1(PCDH15):c.705+190G>A
|
rs11004239
|
0.68440
|
NM_001384140.1(PCDH15):c.705+133T>C
|
rs11004240
|
0.68437
|
NM_001384140.1(PCDH15):c.2869-193dup
|
rs5785030
|
0.68350
|
NM_001384140.1(PCDH15):c.3123-244A>C
|
rs2384341
|
0.67667
|
NM_001384140.1(PCDH15):c.705+288C>G
|
rs1159865
|
0.67639
|
NM_001384140.1(PCDH15):c.1784+179G>A
|
rs12764713
|
0.63133
|
NM_001384140.1(PCDH15):c.3718-154A>G
|
rs7083307
|
0.62854
|
NM_001384140.1(PCDH15):c.2751+37C>T
|
rs3812658
|
0.59606
|
NM_001384140.1(PCDH15):c.2751+192G>T
|
rs2891497
|
0.59577
|
NM_001384140.1(PCDH15):c.3123-333A>G
|
rs10825169
|
0.57672
|
NM_001384140.1(PCDH15):c.4211+188C>T
|
rs4570494
|
0.57542
|
NM_001384140.1(PCDH15):c.1098+107G>A
|
rs10825279
|
0.52858
|
NM_001384140.1(PCDH15):c.876+56T>G
|
rs10763098
|
0.45789
|
NM_001384140.1(PCDH15):c.876+412G>C
|
rs1418367
|
0.44516
|
NM_001384140.1(PCDH15):c.4367+119T>C
|
rs10740555
|
0.43920
|
NM_001384140.1(PCDH15):c.1306-4362C>A
|
rs1561675
|
0.42761
|
NM_001384140.1(PCDH15):c.2221-189T>A
|
rs4146645
|
0.41884
|
NM_001384140.1(PCDH15):c.4203-151C>A
|
rs4935096
|
0.38898
|
NM_001384140.1(PCDH15):c.4203-162T>C
|
rs4935472
|
0.38838
|
NM_001384140.1(PCDH15):c.4671+749A>C
|
rs61862360
|
0.38768
|
NM_001384140.1(PCDH15):c.4202+225C>T
|
rs10825117
|
0.37456
|
NM_001384140.1(PCDH15):c.3984-20C>T
|
rs7089209
|
0.37411
|
NM_001384140.1(PCDH15):c.4202+125G>A
|
rs77597438
|
0.37134
|
NM_001384140.1(PCDH15):c.3717+35T>C
|
rs10825135
|
0.35243
|
NM_001384140.1(PCDH15):c.1591-214A>C
|
rs7093558
|
0.32784
|
NM_001384140.1(PCDH15):c.1917+233G>A
|
rs7914232
|
0.32572
|
NM_001384140.1(PCDH15):c.594+232A>G
|
rs2153822
|
0.26148
|
NM_001384140.1(PCDH15):c.876+361A>C
|
rs11004225
|
0.25744
|
NM_001384140.1(PCDH15):c.3983+232C>T
|
rs4519000
|
0.24030
|
NM_001384140.1(PCDH15):c.1305+268A>C
|
rs7893350
|
0.23822
|
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=)
|
rs7921598
|
0.23801
|
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269
|
0.22813
|
NM_001384140.1(PCDH15):c.2868+172G>A
|
rs2135721
|
0.22501
|
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln)
|
rs2135720
|
0.22399
|
NM_001384140.1(PCDH15):c.2220+47T>C
|
rs3812657
|
0.22115
|
NM_001384140.1(PCDH15):c.2092-168C>T
|
rs11004028
|
0.22062
|
NM_001384140.1(PCDH15):c.2092-148T>A
|
rs11004027
|
0.22043
|
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala)
|
rs11004439
|
0.20535
|
NM_001384140.1(PCDH15):c.1997+244C>T
|
rs72797022
|
0.20344
|
NM_001384140.1(PCDH15):c.319-31T>C
|
rs11594958
|
0.20278
|
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro)
|
rs17704703
|
0.20017
|
NM_001384140.1(PCDH15):c.1997+132T>G
|
rs72797023
|
0.19541
|
NM_001384140.1(PCDH15):c.1918-165C>T
|
rs10509004
|
0.19473
|
NM_001384140.1(PCDH15):c.1306-4123C>T
|
rs16905686
|
0.17435
|
NM_001384140.1(PCDH15):c.4671+1344A>C
|
rs11003863
|
0.17427
|
NM_001384140.1(PCDH15):c.2751+43C>G
|
rs2660169
|
0.16984
|
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala)
|
rs4935502
|
0.15952
|
NM_001384140.1(PCDH15):c.1590+317T>G
|
rs10082370
|
0.15950
|
NM_001384140.1(PCDH15):c.1590+314G>A
|
rs10082529
|
0.15937
|
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=)
|
rs10825114
|
0.12444
|
NM_001384140.1(PCDH15):c.475-299G>A
|
rs1342276
|
0.12313
|
NM_001384140.1(PCDH15):c.2751+184C>T
|
rs3812660
|
0.12015
|
NM_001384140.1(PCDH15):c.595-101G>A
|
rs7342012
|
0.11116
|
NM_001384140.1(PCDH15):c.1997+169A>G
|
rs73237645
|
0.10290
|
NM_001384140.1(PCDH15):c.1441-320G>T
|
rs10082532
|
0.09253
|
NM_001384140.1(PCDH15):c.1306-203T>C
|
rs16905671
|
0.08954
|
NM_001384140.1(PCDH15):c.3374-134G>A
|
rs16937823
|
0.08065
|
NM_001384140.1(PCDH15):c.1784+168A>G
|
rs60131819
|
0.07406
|
NM_001384140.1(PCDH15):c.2752-75C>G
|
rs2253647
|
0.07354
|
NM_001384140.1(PCDH15):c.1591-68G>A
|
rs41274632
|
0.07262
|
NM_001384140.1(PCDH15):c.475-343G>A
|
rs16905987
|
0.07207
|
NM_001384140.1(PCDH15):c.3373+213G>A
|
rs724434
|
0.07163
|
NM_001384140.1(PCDH15):c.2091+229C>T
|
rs55950301
|
0.07095
|
NM_001384140.1(PCDH15):c.91+289G>A
|
rs55688625
|
0.06320
|
NM_001384140.1(PCDH15):c.877-94C>T
|
rs12265855
|
0.05867
|
NM_001384140.1(PCDH15):c.985+227A>G
|
rs12260476
|
0.05859
|
NM_001384140.1(PCDH15):c.1099-282G>T
|
rs112175353
|
0.05640
|
NM_001384140.1(PCDH15):c.2868+69G>A
|
rs11003980
|
0.05390
|
NM_001384140.1(PCDH15):c.706-31A>G
|
rs11004227
|
0.05111
|
NM_001384140.1(PCDH15):c.706-112A>C
|
rs12242256
|
0.05108
|
NM_001384140.1(PCDH15):c.876+134G>A
|
rs11004226
|
0.05103
|
NM_001384140.1(PCDH15):c.3806+90del
|
rs113963266
|
0.05047
|
NM_001384140.1(PCDH15):c.4203-146G>A
|
rs12412822
|
0.04232
|
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)
|
rs79854148
|
0.03803
|
NM_001384140.1(PCDH15):c.4672-1439G>A
|
rs74615652
|
0.03478
|
NM_001384140.1(PCDH15):c.1306-3777A>G
|
rs73244894
|
0.02959
|
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser)
|
rs61731389
|
0.02908
|
NM_001384140.1(PCDH15):c.2527-177C>G
|
rs2610856
|
0.02795
|
NM_001384140.1(PCDH15):c.877-317G>C
|
rs61543176
|
0.02432
|
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=)
|
rs41274634
|
0.02389
|
NM_001384140.1(PCDH15):c.4368-3396C>G
|
rs78464677
|
0.02284
|
NM_001384140.1(PCDH15):c.3984-82A>G
|
rs77806268
|
0.02263
|
NM_001384140.1(PCDH15):c.4367+2552T>A
|
rs74134799
|
0.02249
|
NM_001384140.1(PCDH15):c.4212-92del
|
rs111703509
|
0.02242
|
NM_001384140.1(PCDH15):c.474+183A>G
|
rs112879090
|
0.02201
|
NM_001384140.1(PCDH15):c.3718-19C>A
|
rs75248212
|
0.02141
|
NM_001384140.1(PCDH15):c.3374-4C>T
|
rs111739360
|
0.02123
|
NM_001384140.1(PCDH15):c.3501+207G>A
|
rs185084457
|
0.02122
|
NM_001384140.1(PCDH15):c.3501+209A>T
|
rs182104063
|
0.02119
|
NM_001384140.1(PCDH15):c.877-64G>A
|
rs12251663
|
0.02108
|
NM_001384140.1(PCDH15):c.5124G>A (p.Lys1708=)
|
rs74609306
|
0.02014
|
NM_001384140.1(PCDH15):c.1784+128C>T
|
rs73245420
|
0.01683
|
NM_001384140.1(PCDH15):c.3009+294C>T
|
rs11003947
|
0.01641
|
NM_001384140.1(PCDH15):c.3009+289A>G
|
rs11003948
|
0.01639
|
NM_001384140.1(PCDH15):c.3122+186G>A
|
rs112940526
|
0.01605
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_001384140.1(PCDH15):c.-28-242C>T
|
rs117245042
|
0.01553
|
NM_001384140.1(PCDH15):c.877-29G>T
|
rs116339167
|
0.01544
|
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp)
|
rs111033496
|
0.01533
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01517
|
NM_001384140.1(PCDH15):c.3123-182T>C
|
rs76050914
|
0.01499
|
NM_001384140.1(PCDH15):c.1917+98C>A
|
rs80313657
|
0.01487
|
NM_001384140.1(PCDH15):c.2869-243A>G
|
rs2245171
|
0.01335
|
NM_001384140.1(PCDH15):c.2527-293C>T
|
rs111938848
|
0.01297
|
NM_001384140.1(PCDH15):c.2220+298T>C
|
rs115013828
|
0.01219
|
NM_001384140.1(PCDH15):c.2092-154T>C
|
rs145936940
|
0.01172
|
NM_001384140.1(PCDH15):c.4671+1114A>C
|
rs16937769
|
0.01163
|
NM_001384140.1(PCDH15):c.4367+1949G>A
|
rs149778171
|
0.01144
|
NM_001384140.1(PCDH15):c.4367+2444T>C
|
rs74576409
|
0.01139
|
NM_001384140.1(PCDH15):c.876+115T>C
|
rs116363748
|
0.01125
|
NM_001384140.1(PCDH15):c.4562+235C>T
|
rs139507228
|
0.01062
|
NM_001384140.1(PCDH15):c.1305+200G>T
|
rs111356992
|
0.01031
|
NM_001384140.1(PCDH15):c.3806+143C>T
|
rs74619580
|
0.01017
|
NM_001384140.1(PCDH15):c.706-21G>T
|
rs140130958
|
0.00988
|
NM_001384140.1(PCDH15):c.2091+212C>T
|
rs141585827
|
0.00986
|
NM_001384140.1(PCDH15):c.1998-45A>G
|
rs149992956
|
0.00885
|
NM_001384140.1(PCDH15):c.1441-76T>C
|
rs112740946
|
0.00877
|
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile)
|
rs61735473
|
0.00870
|
NM_001384140.1(PCDH15):c.4211+73_4211+81dup
|
rs199666861
|
0.00868
|
NM_001384140.1(PCDH15):c.2751+146A>G
|
rs76900627
|
0.00862
|
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile)
|
rs147835286
|
0.00845
|
NM_001384140.1(PCDH15):c.475-3C>T
|
rs41304641
|
0.00837
|
NM_001384140.1(PCDH15):c.4367+2367G>A
|
rs137947453
|
0.00828
|
NM_001384140.1(PCDH15):c.4367+88A>G
|
rs45466098
|
0.00811
|
NM_001384140.1(PCDH15):c.4672-1637G>A
|
rs139441645
|
0.00746
|
NM_001384140.1(PCDH15):c.4640G>A (p.Gly1547Asp)
|
rs41274622
|
0.00741
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_001384140.1(PCDH15):c.4671+62G>A
|
rs183280673
|
0.00668
|
NM_001384140.1(PCDH15):c.*16A>C
|
rs146326496
|
0.00640
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr)
|
rs61730754
|
0.00615
|
NM_001384140.1(PCDH15):c.-5A>G
|
rs142016527
|
0.00570
|
NM_001384140.1(PCDH15):c.1997+41C>G
|
rs59250260
|
0.00565
|
NM_001384140.1(PCDH15):c.4671+1053A>C
|
rs149208928
|
0.00562
|
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=)
|
rs16937781
|
0.00558
|
NM_001384140.1(PCDH15):c.4211+119T>C
|
rs73236374
|
0.00555
|
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=)
|
rs112097891
|
0.00486
|
NM_001384140.1(PCDH15):c.3983+12T>C
|
rs149867749
|
0.00483
|
NM_001384140.1(PCDH15):c.4671+1438A>C
|
rs16937768
|
0.00449
|
NM_001384140.1(PCDH15):c.474+153A>G
|
rs187573984
|
0.00441
|
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.1590+15A>G
|
rs565203752
|
0.00428
|
NM_001384140.1(PCDH15):c.4367+2439_4367+2440del
|
rs575709321
|
0.00423
|
NM_001384140.1(PCDH15):c.877-167C>T
|
rs77304006
|
0.00423
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00423
|
NM_001384140.1(PCDH15):c.877-332T>C
|
rs144981452
|
0.00422
|
NM_001384140.1(PCDH15):c.2091+70A>G
|
rs139399915
|
0.00412
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_001384140.1(PCDH15):c.706-106C>A
|
rs186517050
|
0.00410
|
NM_001384140.1(PCDH15):c.4671+116G>A
|
rs113093011
|
0.00408
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
NM_001384140.1(PCDH15):c.4367+2313A>G
|
rs34676448
|
0.00396
|
NM_001384140.1(PCDH15):c.3122+114G>T
|
rs145585939
|
0.00378
|
NM_001384140.1(PCDH15):c.876+246T>A
|
rs146200572
|
0.00370
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
NM_001384140.1(PCDH15):c.1306-4005G>A
|
rs73244898
|
0.00305
|
NM_001384140.1(PCDH15):c.3717+8G>C
|
rs200556301
|
0.00305
|
NM_001384140.1(PCDH15):c.3233-37A>G
|
rs113874298
|
0.00300
|
NM_001384140.1(PCDH15):c.4492-101A>G
|
rs185136039
|
0.00298
|
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)
|
rs148772706
|
0.00278
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00267
|
NM_001384140.1(PCDH15):c.2527-34G>A
|
rs149539156
|
0.00266
|
NM_001384140.1(PCDH15):c.3010-49C>T
|
rs116758834
|
0.00245
|
NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
NM_001384140.1(PCDH15):c.4672-1699G>A
|
rs7090408
|
0.00227
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=)
|
rs58461416
|
0.00220
|
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys)
|
rs148533341
|
0.00219
|
NM_001384140.1(PCDH15):c.4671+16T>G
|
rs76528829
|
0.00210
|
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.4733T>C (p.Val1578Ala)
|
rs139915181
|
0.00169
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_001384140.1(PCDH15):c.319-161A>T
|
rs574907131
|
0.00163
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00138
|
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)
|
rs144261647
|
0.00134
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=)
|
rs141281651
|
0.00073
|
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)
|
rs151119732
|
0.00073
|
NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=)
|
rs377244811
|
0.00066
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
NM_001384140.1(PCDH15):c.3877C>A (p.Arg1293=)
|
rs142034111
|
0.00064
|
NM_001384140.1(PCDH15):c.4671+1440C>T
|
rs183631592
|
0.00064
|
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly)
|
rs146745502
|
0.00061
|
NM_001384140.1(PCDH15):c.1997+23C>T
|
rs202046718
|
0.00060
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys)
|
rs141169746
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_001384140.1(PCDH15):c.4202+117C>T
|
rs144169796
|
0.00052
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
NM_001384140.1(PCDH15):c.4671+1046A>G
|
rs201855435
|
0.00049
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
|
rs145499180
|
0.00048
|
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His)
|
rs142678284
|
0.00047
|
NM_001384140.1(PCDH15):c.2513T>C (p.Ile838Thr)
|
rs201657445
|
0.00046
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00045
|
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=)
|
rs149481989
|
0.00043
|
NM_001384140.1(PCDH15):c.3717+39A>T
|
rs144696135
|
0.00041
|
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_001384140.1(PCDH15):c.913C>G (p.Gln305Glu)
|
rs143058902
|
0.00037
|
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146
|
0.00036
|
NM_001384140.1(PCDH15):c.3374-16G>A
|
rs139684809
|
0.00036
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser)
|
rs139547641
|
0.00034
|
NM_001384140.1(PCDH15):c.4803C>T (p.Gly1601=)
|
rs190105984
|
0.00032
|
NM_001384140.1(PCDH15):c.1762A>G (p.Asn588Asp)
|
rs143897176
|
0.00031
|
NM_001384140.1(PCDH15):c.4203-8C>G
|
rs200840022
|
0.00031
|
NM_001384140.1(PCDH15):c.3502-6G>A
|
rs749897896
|
0.00028
|
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)
|
rs138338096
|
0.00027
|
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351
|
0.00026
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)
|
rs148162562
|
0.00024
|
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg)
|
rs140716525
|
0.00024
|
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu)
|
rs145232643
|
0.00024
|
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala)
|
rs150069992
|
0.00024
|
NM_001384140.1(PCDH15):c.1649T>G (p.Val550Gly)
|
rs61735482
|
0.00022
|
NM_001384140.1(PCDH15):c.2223A>G (p.Ala741=)
|
rs201332784
|
0.00021
|
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)
|
rs111033499
|
0.00021
|
NM_001384140.1(PCDH15):c.4671+1642T>C
|
rs182175548
|
0.00021
|
NM_001384140.1(PCDH15):c.2751+14A>G
|
rs370250540
|
0.00020
|
NM_001384140.1(PCDH15):c.3122+17G>A
|
rs369096183
|
0.00020
|
NM_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.4671+965G>C
|
rs145153898
|
0.00019
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala)
|
rs199834829
|
0.00019
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys)
|
rs149384350
|
0.00018
|
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)
|
rs147993163
|
0.00017
|
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser)
|
rs189284385
|
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_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg)
|
rs727504812
|
0.00016
|
NM_001384140.1(PCDH15):c.1441-20G>A
|
rs368774419
|
0.00014
|
NM_001384140.1(PCDH15):c.1494A>G (p.Gln498=)
|
rs145141405
|
0.00014
|
NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala)
|
rs61731381
|
0.00014
|
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=)
|
rs150303579
|
0.00014
|
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=)
|
rs138177808
|
0.00013
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178
|
0.00013
|
NM_001384140.1(PCDH15):c.8G>A (p.Arg3Gln)
|
rs372085398
|
0.00013
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu)
|
rs200659780
|
0.00013
|
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu)
|
rs56332160
|
0.00013
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)
|
rs145037203
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_001384140.1(PCDH15):c.4644A>G (p.Glu1548=)
|
rs200796871
|
0.00011
|
NM_001384140.1(PCDH15):c.4671+1643G>A
|
rs190515330
|
0.00011
|
NM_001384140.1(PCDH15):c.19C>A (p.Leu7Ile)
|
rs762092314
|
0.00010
|
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys)
|
rs372076259
|
0.00010
|
NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=)
|
rs140893140
|
0.00010
|
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val)
|
rs369029215
|
0.00010
|
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=)
|
rs144955298
|
0.00010
|
NM_033056.4(PCDH15):c.5196A>T (p.Glu1732Asp)
|
rs147717147
|
0.00010
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
NM_001384140.1(PCDH15):c.1712T>C (p.Val571Ala)
|
rs780503140
|
0.00009
|
NM_001384140.1(PCDH15):c.1978G>C (p.Val660Leu)
|
rs373482210
|
0.00009
|
NM_001384140.1(PCDH15):c.1997C>T (p.Thr666Ile)
|
rs146121822
|
0.00009
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
NM_001384140.1(PCDH15):c.2751+9T>C
|
rs180804907
|
0.00009
|
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn)
|
rs773599066
|
0.00009
|
NM_001384140.1(PCDH15):c.2891G>A (p.Arg964Lys)
|
rs149605588
|
0.00009
|
NM_001384140.1(PCDH15):c.4671+1468A>G
|
rs761431484
|
0.00009
|
NM_033056.4(PCDH15):c.4611A>T (p.Ser1537=)
|
rs142387128
|
0.00009
|
NM_033056.4(PCDH15):c.4919G>A (p.Arg1640Lys)
|
rs567843031
|
0.00009
|
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=)
|
rs367881384
|
0.00009
|
NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile)
|
rs187727835
|
0.00008
|
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met)
|
rs143090687
|
0.00008
|
NM_001384140.1(PCDH15):c.2325G>A (p.Val775=)
|
rs200792575
|
0.00008
|
NM_001384140.1(PCDH15):c.3010-18T>C
|
rs377437264
|
0.00008
|
NM_001384140.1(PCDH15):c.3179C>T (p.Ala1060Val)
|
rs766295206
|
0.00008
|
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
NM_001384140.1(PCDH15):c.4317G>A (p.Pro1439=)
|
rs370470900
|
0.00008
|
NM_001384140.1(PCDH15):c.1306-4122G>A
|
rs370242062
|
0.00007
|
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met)
|
rs367937228
|
0.00007
|
NM_001384140.1(PCDH15):c.1917+12_1917+13dup
|
rs770365128
|
0.00007
|
NM_001384140.1(PCDH15):c.195T>C (p.Thr65=)
|
rs770371293
|
0.00007
|
NM_001384140.1(PCDH15):c.1979T>A (p.Val660Asp)
|
rs573831072
|
0.00007
|
NM_001384140.1(PCDH15):c.2262C>T (p.Tyr754=)
|
rs373539084
|
0.00007
|
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=)
|
rs772650866
|
0.00007
|
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=)
|
rs369183721
|
0.00007
|
NM_001384140.1(PCDH15):c.1306-4116G>A
|
rs200299853
|
0.00006
|
NM_001384140.1(PCDH15):c.1627G>A (p.Glu543Lys)
|
rs187850596
|
0.00006
|
NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln)
|
rs753457449
|
0.00006
|
NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)
|
rs763230126
|
0.00006
|
NM_001384140.1(PCDH15):c.1942A>G (p.Ile648Val)
|
rs745647844
|
0.00006
|
NM_001384140.1(PCDH15):c.200G>A (p.Gly67Glu)
|
rs930665715
|
0.00006
|
NM_001384140.1(PCDH15):c.2386G>A (p.Val796Ile)
|
rs374715306
|
0.00006
|
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His)
|
rs199824864
|
0.00006
|
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454
|
0.00006
|
NM_001384140.1(PCDH15):c.3010-12T>C
|
rs373410101
|
0.00006
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
NM_001384140.1(PCDH15):c.3501+6C>T
|
rs370178425
|
0.00006
|
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met)
|
rs773283153
|
0.00006
|
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=)
|
rs139873638
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu)
|
rs374714898
|
0.00006
|
NM_001384140.1(PCDH15):c.4367+11C>T
|
rs374786323
|
0.00006
|
NM_001384140.1(PCDH15):c.4671+1392dup
|
rs757596933
|
0.00006
|
NM_001384140.1(PCDH15):c.4671+1616G>A
|
rs371191414
|
0.00006
|
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg)
|
rs201496062
|
0.00006
|
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
0.00006
|
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys)
|
rs200798008
|
0.00006
|
NM_001384140.1(PCDH15):c.882A>G (p.Glu294=)
|
rs181232514
|
0.00006
|
NM_033056.4(PCDH15):c.4553A>T (p.Asp1518Val)
|
rs528484622
|
0.00006
|
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)
|
rs767811568
|
0.00006
|
NM_033056.4(PCDH15):c.5043G>A (p.Val1681=)
|
rs534821008
|
0.00006
|
NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys)
|
rs775361471
|
0.00006
|
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro)
|
rs748917362
|
0.00006
|
NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=)
|
rs572643730
|
0.00006
|
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=)
|
rs200170358
|
0.00005
|
NM_001384140.1(PCDH15):c.1479C>A (p.Val493=)
|
rs371406605
|
0.00005
|
NM_001384140.1(PCDH15):c.2014T>C (p.Leu672=)
|
rs772452288
|
0.00005
|
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=)
|
rs746162109
|
0.00005
|
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile)
|
rs200784596
|
0.00005
|
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu)
|
rs397517455
|
0.00005
|
NM_001384140.1(PCDH15):c.3206A>G (p.Tyr1069Cys)
|
rs775952226
|
0.00005
|
NM_001384140.1(PCDH15):c.3405G>A (p.Gln1135=)
|
rs202206172
|
0.00005
|
NM_001384140.1(PCDH15):c.3483T>C (p.Thr1161=)
|
rs772300262
|
0.00005
|
NM_001384140.1(PCDH15):c.3592G>A (p.Glu1198Lys)
|
rs781603185
|
0.00005
|
NM_001384140.1(PCDH15):c.4263G>T (p.Ala1421=)
|
rs372661520
|
0.00005
|
NM_001384140.1(PCDH15):c.4671+1523G>T
|
rs755005336
|
0.00005
|
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)
|
rs562377533
|
0.00005
|
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp)
|
rs745335831
|
0.00005
|
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)
|
rs745583797
|
0.00005
|
NM_033056.4(PCDH15):c.5408C>T (p.Ser1803Phe)
|
rs747584616
|
0.00005
|
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
|
rs140047846
|
0.00005
|
NM_033056.4(PCDH15):c.5725C>T (p.Arg1909Cys)
|
rs373813469
|
0.00005
|
NM_001384140.1(PCDH15):c.1032A>G (p.Thr344=)
|
rs376067863
|
0.00004
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
0.00004
|
NM_001384140.1(PCDH15):c.1152A>G (p.Glu384=)
|
rs770060277
|
0.00004
|
NM_001384140.1(PCDH15):c.1208A>G (p.Tyr403Cys)
|
rs767558664
|
0.00004
|
NM_001384140.1(PCDH15):c.1602C>G (p.Val534=)
|
rs201215741
|
0.00004
|
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His)
|
rs746610406
|
0.00004
|
NM_001384140.1(PCDH15):c.2673T>G (p.Ser891Arg)
|
rs1052481975
|
0.00004
|
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu)
|
rs374205826
|
0.00004
|
NM_001384140.1(PCDH15):c.2811G>A (p.Pro937=)
|
rs1449039709
|
0.00004
|
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser)
|
rs150891423
|
0.00004
|
NM_001384140.1(PCDH15):c.2978A>G (p.Asn993Ser)
|
rs141419177
|
0.00004
|
NM_001384140.1(PCDH15):c.3328G>A (p.Asp1110Asn)
|
rs138363888
|
0.00004
|
NM_001384140.1(PCDH15):c.3456T>C (p.Gly1152=)
|
rs202091131
|
0.00004
|
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe)
|
rs752490775
|
0.00004
|
NM_001384140.1(PCDH15):c.3717+10T>C
|
rs376158566
|
0.00004
|
NM_001384140.1(PCDH15):c.3822T>C (p.Tyr1274=)
|
rs148548987
|
0.00004
|
NM_001384140.1(PCDH15):c.3937A>G (p.Ile1313Val)
|
rs534588814
|
0.00004
|
NM_001384140.1(PCDH15):c.4048C>T (p.Arg1350Cys)
|
rs138398244
|
0.00004
|
NM_001384140.1(PCDH15):c.4072G>C (p.Glu1358Gln)
|
rs766259569
|
0.00004
|
NM_001384140.1(PCDH15):c.4272A>G (p.Pro1424=)
|
rs759109238
|
0.00004
|
NM_001384140.1(PCDH15):c.4329A>C (p.Pro1443=)
|
rs369289143
|
0.00004
|
NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg)
|
rs550282961
|
0.00004
|
NM_001384140.1(PCDH15):c.4589G>A (p.Arg1530His)
|
rs368380451
|
0.00004
|
NM_001384140.1(PCDH15):c.4672-1577C>T
|
rs373275867
|
0.00004
|
NM_001384140.1(PCDH15):c.477C>T (p.Leu159=)
|
rs748202818
|
0.00004
|
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)
|
rs369442293
|
0.00004
|
NM_001384140.1(PCDH15):c.903G>A (p.Thr301=)
|
rs189227500
|
0.00004
|
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu)
|
rs138299477
|
0.00004
|
NM_001384140.1(PCDH15):c.948A>G (p.Pro316=)
|
rs773198164
|
0.00004
|
NM_001384140.1(PCDH15):c.952G>C (p.Asp318His)
|
rs747921916
|
0.00004
|
NM_033056.4(PCDH15):c.4575T>C (p.His1525=)
|
rs746377416
|
0.00004
|
NM_033056.4(PCDH15):c.4599_4600dup (p.Ser1534fs)
|
rs1436725375
|
0.00004
|
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)
|
rs751539473
|
0.00004
|
NM_033056.4(PCDH15):c.4774C>T (p.Pro1592Ser)
|
rs773753270
|
0.00004
|
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)
|
rs558224212
|
0.00004
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=)
|
rs61862392
|
0.00004
|
NM_033056.4(PCDH15):c.4934T>C (p.Leu1645Pro)
|
rs557722266
|
0.00004
|
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu)
|
rs143438666
|
0.00004
|
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn)
|
rs727503364
|
0.00004
|
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu)
|
rs759208006
|
0.00004
|
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu)
|
rs147727092
|
0.00004
|
NM_033056.4(PCDH15):c.5853A>G (p.Gln1951=)
|
rs370042818
|
0.00004
|
NM_001384140.1(PCDH15):c.1099-18T>C
|
rs780316497
|
0.00003
|
NM_001384140.1(PCDH15):c.1230G>C (p.Val410=)
|
rs145217188
|
0.00003
|
NM_001384140.1(PCDH15):c.1305+14A>G
|
rs369153684
|
0.00003
|
NM_001384140.1(PCDH15):c.1327C>G (p.Leu443Val)
|
rs779957406
|
0.00003
|
NM_001384140.1(PCDH15):c.1427C>T (p.Thr476Ile)
|
rs967946862
|
0.00003
|
NM_001384140.1(PCDH15):c.1434C>T (p.Thr478=)
|
rs745759131
|
0.00003
|
NM_001384140.1(PCDH15):c.1518G>A (p.Thr506=)
|
rs141416774
|
0.00003
|
NM_001384140.1(PCDH15):c.1918-20A>G
|
rs373117834
|
0.00003
|
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser)
|
rs373731707
|
0.00003
|
NM_001384140.1(PCDH15):c.2082G>A (p.Arg694=)
|
rs756484846
|
0.00003
|
NM_001384140.1(PCDH15):c.2091+17dup
|
rs759943776
|
0.00003
|
NM_001384140.1(PCDH15):c.2200G>A (p.Ala734Thr)
|
rs781579614
|
0.00003
|
NM_001384140.1(PCDH15):c.2268G>A (p.Leu756=)
|
rs143662833
|
0.00003
|
NM_001384140.1(PCDH15):c.2379T>C (p.Asp793=)
|
rs148920891
|
0.00003
|
NM_001384140.1(PCDH15):c.2538C>T (p.Val846=)
|
rs727504573
|
0.00003
|
NM_001384140.1(PCDH15):c.2799G>C (p.Gly933=)
|
rs139853291
|
0.00003
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_001384140.1(PCDH15):c.3448A>G (p.Ile1150Val)
|
rs1392434535
|
0.00003
|
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp)
|
rs150387187
|
0.00003
|
NM_001384140.1(PCDH15):c.3596C>T (p.Thr1199Ile)
|
rs794727445
|
0.00003
|
NM_001384140.1(PCDH15):c.3666T>G (p.Val1222=)
|
rs762138321
|
0.00003
|
NM_001384140.1(PCDH15):c.3708C>T (p.Ala1236=)
|
rs374185988
|
0.00003
|
NM_001384140.1(PCDH15):c.4029G>A (p.Pro1343=)
|
rs533989966
|
0.00003
|
NM_001384140.1(PCDH15):c.4198A>G (p.Arg1400Gly)
|
rs765069475
|
0.00003
|
NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg)
|
rs778508372
|
0.00003
|
NM_001384140.1(PCDH15):c.4211+11T>A
|
rs751800504
|
0.00003
|
NM_001384140.1(PCDH15):c.4302G>A (p.Ala1434=)
|
rs368622542
|
0.00003
|
NM_001384140.1(PCDH15):c.4319C>T (p.Pro1440Leu)
|
rs764173741
|
0.00003
|
NM_001384140.1(PCDH15):c.4349A>C (p.Glu1450Ala)
|
rs1468837125
|
0.00003
|
NM_001384140.1(PCDH15):c.4368-3147T>C
|
rs376178615
|
0.00003
|
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu)
|
rs534173969
|
0.00003
|
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser)
|
rs727503368
|
0.00003
|
NM_001384140.1(PCDH15):c.641T>C (p.Ile214Thr)
|
rs772525423
|
0.00003
|
NM_001384140.1(PCDH15):c.678T>C (p.Thr226=)
|
rs759127233
|
0.00003
|
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys)
|
rs565693539
|
0.00003
|
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg)
|
rs727503367
|
0.00003
|
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met)
|
rs370933593
|
0.00003
|
NM_001384140.1(PCDH15):c.945G>T (p.Pro315=)
|
rs150450873
|
0.00003
|
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=)
|
rs994026891
|
0.00003
|
NM_001384140.1(PCDH15):c.986-11A>G
|
rs374641355
|
0.00003
|
NM_033056.4(PCDH15):c.4413A>T (p.Ser1471=)
|
rs1392907899
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_033056.4(PCDH15):c.4497C>T (p.Asp1499=)
|
rs376485360
|
0.00003
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00003
|
NM_033056.4(PCDH15):c.4911G>A (p.Glu1637=)
|
rs972342055
|
0.00003
|
NM_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly)
|
rs754402677
|
0.00003
|
NM_033056.4(PCDH15):c.5169T>C (p.Pro1723=)
|
rs982576655
|
0.00003
|
NM_033056.4(PCDH15):c.5216A>T (p.Asn1739Ile)
|
rs772081755
|
0.00003
|
NM_033056.4(PCDH15):c.5236C>A (p.Pro1746Thr)
|
rs762526774
|
0.00003
|
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr)
|
rs397517464
|
0.00003
|
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)
|
rs375134176
|
0.00003
|
NM_033056.4(PCDH15):c.5335C>T (p.Pro1779Ser)
|
rs1421385928
|
0.00003
|
NM_033056.4(PCDH15):c.5416C>T (p.Pro1806Ser)
|
rs750061228
|
0.00003
|
NM_033056.4(PCDH15):c.5755T>A (p.Cys1919Ser)
|
rs376353049
|
0.00003
|
NM_001384140.1(PCDH15):c.1026T>G (p.Pro342=)
|
rs1209298999
|
0.00002
|
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.1239C>T (p.Thr413=)
|
rs768703592
|
0.00002
|
NM_001384140.1(PCDH15):c.1245G>A (p.Ser415=)
|
rs775789634
|
0.00002
|
NM_001384140.1(PCDH15):c.1272A>G (p.Leu424=)
|
rs1027213784
|
0.00002
|
NM_001384140.1(PCDH15):c.1306A>G (p.Thr436Ala)
|
rs747795209
|
0.00002
|
NM_001384140.1(PCDH15):c.1382G>A (p.Arg461His)
|
rs762095586
|
0.00002
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
NM_001384140.1(PCDH15):c.1650T>C (p.Val550=)
|
rs145254610
|
0.00002
|
NM_001384140.1(PCDH15):c.1709G>C (p.Gly570Ala)
|
rs769261753
|
0.00002
|
NM_001384140.1(PCDH15):c.1725C>T (p.Val575=)
|
rs748995667
|
0.00002
|
NM_001384140.1(PCDH15):c.1797C>T (p.Cys599=)
|
rs1022105558
|
0.00002
|
NM_001384140.1(PCDH15):c.1918-6C>T
|
rs776285978
|
0.00002
|
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=)
|
rs754253198
|
0.00002
|
NM_001384140.1(PCDH15):c.2118G>A (p.Val706=)
|
rs765329284
|
0.00002
|
NM_001384140.1(PCDH15):c.2188G>A (p.Glu730Lys)
|
rs770931801
|
0.00002
|
NM_001384140.1(PCDH15):c.2510C>T (p.Thr837Ile)
|
rs776536099
|
0.00002
|
NM_001384140.1(PCDH15):c.2564G>A (p.Arg855Gln)
|
rs763530050
|
0.00002
|
NM_001384140.1(PCDH15):c.2658A>C (p.Pro886=)
|
rs753486321
|
0.00002
|
NM_001384140.1(PCDH15):c.2713A>G (p.Met905Val)
|
rs747028333
|
0.00002
|
NM_001384140.1(PCDH15):c.2731A>G (p.Thr911Ala)
|
rs887302573
|
0.00002
|
NM_001384140.1(PCDH15):c.2736C>A (p.Val912=)
|
rs755755292
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.2768C>T (p.Pro923Leu)
|
rs191577774
|
0.00002
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
NM_001384140.1(PCDH15):c.319-3C>T
|
rs773981919
|
0.00002
|
NM_001384140.1(PCDH15):c.319C>T (p.Pro107Ser)
|
rs372716511
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384140.1(PCDH15):c.348G>T (p.Val116=)
|
rs751464731
|
0.00002
|
NM_001384140.1(PCDH15):c.3502-14_3502-13insTC
|
rs1554836604
|
0.00002
|
NM_001384140.1(PCDH15):c.3633T>C (p.His1211=)
|
rs570485008
|
0.00002
|
NM_001384140.1(PCDH15):c.369A>G (p.Lys123=)
|
rs1317246200
|
0.00002
|
NM_001384140.1(PCDH15):c.3700G>A (p.Gly1234Ser)
|
rs143149062
|
0.00002
|
NM_001384140.1(PCDH15):c.3806+19T>C
|
rs769403997
|
0.00002
|
NM_001384140.1(PCDH15):c.3821A>G (p.Tyr1274Cys)
|
rs904260491
|
0.00002
|
NM_001384140.1(PCDH15):c.3865A>G (p.Ile1289Val)
|
rs1258330774
|
0.00002
|
NM_001384140.1(PCDH15):c.3878G>A (p.Arg1293Gln)
|
rs536702239
|
0.00002
|
NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=)
|
rs765713345
|
0.00002
|
NM_001384140.1(PCDH15):c.3966T>C (p.Asp1322=)
|
rs754979091
|
0.00002
|
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)
|
rs752356781
|
0.00002
|
NM_001384140.1(PCDH15):c.4063C>T (p.Arg1355Trp)
|
rs759094376
|
0.00002
|
NM_001384140.1(PCDH15):c.4064G>A (p.Arg1355Gln)
|
rs371850442
|
0.00002
|
NM_001384140.1(PCDH15):c.4090A>G (p.Lys1364Glu)
|
rs569275683
|
0.00002
|
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
|
rs779165268
|
0.00002
|
NM_001384140.1(PCDH15):c.4203-9C>A
|
rs746654002
|
0.00002
|
NM_001384140.1(PCDH15):c.4254A>G (p.Ala1418=)
|
rs764548141
|
0.00002
|
NM_001384140.1(PCDH15):c.4303C>A (p.Pro1435Thr)
|
rs766039931
|
0.00002
|
NM_001384140.1(PCDH15):c.4332T>C (p.Gly1444=)
|
rs774607785
|
0.00002
|
NM_001384140.1(PCDH15):c.4671+1327T>C
|
rs751344048
|
0.00002
|
NM_001384140.1(PCDH15):c.4672-1638C>T
|
rs775641445
|
0.00002
|
NM_001384140.1(PCDH15):c.602A>G (p.Asn201Ser)
|
rs374283912
|
0.00002
|
NM_001384140.1(PCDH15):c.640A>G (p.Ile214Val)
|
rs375868631
|
0.00002
|
NM_001384140.1(PCDH15):c.684C>T (p.Tyr228=)
|
rs372867091
|
0.00002
|
NM_001384140.1(PCDH15):c.725A>C (p.Asn242Thr)
|
rs775673790
|
0.00002
|
NM_001384140.1(PCDH15):c.726T>C (p.Asn242=)
|
rs767845518
|
0.00002
|
NM_001384140.1(PCDH15):c.876+13_876+14del
|
rs749794539
|
0.00002
|
NM_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs)
|
rs763882874
|
0.00002
|
NM_033056.4(PCDH15):c.4717C>G (p.Leu1573Val)
|
rs202010562
|
0.00002
|
NM_033056.4(PCDH15):c.4734C>T (p.Val1578=)
|
rs757171617
|
0.00002
|
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)
|
rs397517461
|
0.00002
|
NM_033056.4(PCDH15):c.5004C>T (p.His1668=)
|
rs761142606
|
0.00002
|
NM_033056.4(PCDH15):c.5112G>A (p.Arg1704=)
|
rs982138826
|
0.00002
|
NM_033056.4(PCDH15):c.5178C>T (p.Thr1726=)
|
rs760796538
|
0.00002
|
NM_033056.4(PCDH15):c.5490T>C (p.Pro1830=)
|
rs775902052
|
0.00002
|
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe)
|
rs752231055
|
0.00002
|
NM_033056.4(PCDH15):c.5618C>G (p.Thr1873Arg)
|
rs754865702
|
0.00002
|
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)
|
rs750274894
|
0.00002
|
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val)
|
rs760992741
|
0.00002
|
NM_033056.4(PCDH15):c.5709A>G (p.Ile1903Met)
|
rs747899393
|
0.00002
|
NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly)
|
rs2076301014
|
0.00002
|
NM_033056.4(PCDH15):c.5823C>T (p.Val1941=)
|
rs768223980
|
0.00002
|
NM_033056.4(PCDH15):c.5862A>G (p.Ser1954=)
|
rs755165199
|
0.00002
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
NM_001384140.1(PCDH15):c.1007G>A (p.Arg336Gln)
|
rs370442031
|
0.00001
|
NM_001384140.1(PCDH15):c.1034C>A (p.Ala345Glu)
|
rs759047277
|
0.00001
|
NM_001384140.1(PCDH15):c.1086T>C (p.Asp362=)
|
rs1436469517
|
0.00001
|
NM_001384140.1(PCDH15):c.1108G>A (p.Asp370Asn)
|
rs1482209592
|
0.00001
|
NM_001384140.1(PCDH15):c.1116T>G (p.Gly372=)
|
rs764072223
|
0.00001
|
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu)
|
rs397517449
|
0.00001
|
NM_001384140.1(PCDH15):c.1137C>T (p.Ala379=)
|
rs775537342
|
0.00001
|
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg)
|
rs758680936
|
0.00001
|
NM_001384140.1(PCDH15):c.1179A>G (p.Pro393=)
|
rs1484114119
|
0.00001
|
NM_001384140.1(PCDH15):c.1180T>C (p.Tyr394His)
|
rs778369017
|
0.00001
|
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=)
|
rs1427922641
|
0.00001
|
NM_001384140.1(PCDH15):c.1228G>T (p.Val410Leu)
|
rs1410944616
|
0.00001
|
NM_001384140.1(PCDH15):c.1244C>T (p.Ser415Leu)
|
rs747154146
|
0.00001
|
NM_001384140.1(PCDH15):c.1280T>C (p.Val427Ala)
|
rs142698812
|
0.00001
|
NM_001384140.1(PCDH15):c.1305+2T>A
|
rs2049531217
|
0.00001
|
NM_001384140.1(PCDH15):c.1306-20G>A
|
rs531081800
|
0.00001
|
NM_001384140.1(PCDH15):c.1306-4086A>T
|
rs1564635870
|
0.00001
|
NM_001384140.1(PCDH15):c.1306-4111A>C
|
rs78392377
|
0.00001
|
NM_001384140.1(PCDH15):c.1317A>G (p.Pro439=)
|
rs768151894
|
0.00001
|
NM_001384140.1(PCDH15):c.1320G>A (p.Glu440=)
|
rs947826570
|
0.00001
|
NM_001384140.1(PCDH15):c.1326C>T (p.His442=)
|
rs1178465560
|
0.00001
|
NM_001384140.1(PCDH15):c.1343A>G (p.Tyr448Cys)
|
rs1214237090
|
0.00001
|
NM_001384140.1(PCDH15):c.1353C>G (p.Val451=)
|
rs1207824945
|
0.00001
|
NM_001384140.1(PCDH15):c.1359C>T (p.Thr453=)
|
rs757027490
|
0.00001
|
NM_001384140.1(PCDH15):c.1377T>C (p.Ile459=)
|
rs763593526
|
0.00001
|
NM_001384140.1(PCDH15):c.1385A>G (p.Tyr462Cys)
|
rs201284699
|
0.00001
|
NM_001384140.1(PCDH15):c.1439C>T (p.Ser480Leu)
|
rs1281151581
|
0.00001
|
NM_001384140.1(PCDH15):c.1440+7A>C
|
rs540070936
|
0.00001
|
NM_001384140.1(PCDH15):c.1441-7C>T
|
rs1157557398
|
0.00001
|
NM_001384140.1(PCDH15):c.1449A>C (p.Ala483=)
|
rs1190323123
|
0.00001
|
NM_001384140.1(PCDH15):c.1469G>C (p.Ser490Thr)
|
rs139018592
|
0.00001
|
NM_001384140.1(PCDH15):c.1506A>G (p.Ala502=)
|
rs1471744351
|
0.00001
|
NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala)
|
rs570048496
|
0.00001
|
NM_001384140.1(PCDH15):c.1524C>G (p.Thr508=)
|
rs778822897
|
0.00001
|
NM_001384140.1(PCDH15):c.1570C>A (p.Pro524Thr)
|
rs751255567
|
0.00001
|
NM_001384140.1(PCDH15):c.158-8G>T
|
rs1948836091
|
0.00001
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
NM_001384140.1(PCDH15):c.1590+10C>T
|
rs761683339
|
0.00001
|
NM_001384140.1(PCDH15):c.1596T>C (p.Thr532=)
|
rs367850244
|
0.00001
|
NM_001384140.1(PCDH15):c.1605C>T (p.Asp535=)
|
rs370348265
|
0.00001
|
NM_001384140.1(PCDH15):c.1611C>T (p.Asp537=)
|
rs771243891
|
0.00001
|
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile)
|
rs727505253
|
0.00001
|
NM_001384140.1(PCDH15):c.1631T>G (p.Ile544Ser)
|
rs886047066
|
0.00001
|
NM_001384140.1(PCDH15):c.1647T>C (p.Leu549=)
|
rs764794030
|
0.00001
|
NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg)
|
rs764162624
|
0.00001
|
NM_001384140.1(PCDH15):c.1701C>T (p.Ile567=)
|
rs773444573
|
0.00001
|
NM_001384140.1(PCDH15):c.1771C>G (p.Pro591Ala)
|
rs1277257526
|
0.00001
|
NM_001384140.1(PCDH15):c.1773T>C (p.Pro591=)
|
rs1178375441
|
0.00001
|
NM_001384140.1(PCDH15):c.1780C>A (p.Arg594=)
|
rs1252259548
|
0.00001
|
NM_001384140.1(PCDH15):c.1808T>C (p.Ile603Thr)
|
rs893216164
|
0.00001
|
NM_001384140.1(PCDH15):c.1812A>C (p.Glu604Asp)
|
rs771456526
|
0.00001
|
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)
|
rs200226791
|
0.00001
|
NM_001384140.1(PCDH15):c.183G>T (p.Leu61=)
|
rs1756531469
|
0.00001
|
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys)
|
rs139104747
|
0.00001
|
NM_001384140.1(PCDH15):c.1882G>A (p.Ala628Thr)
|
rs1234835810
|
0.00001
|
NM_001384140.1(PCDH15):c.1898C>T (p.Ala633Val)
|
rs1475018348
|
0.00001
|
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888
|
0.00001
|
NM_001384140.1(PCDH15):c.1917+12G>A
|
rs1305592136
|
0.00001
|
NM_001384140.1(PCDH15):c.1918-15G>A
|
rs2094574689
|
0.00001
|
NM_001384140.1(PCDH15):c.1970C>T (p.Pro657Leu)
|
rs757098609
|
0.00001
|
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=)
|
rs777099546
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.2001G>C (p.Thr667=)
|
rs200699443
|
0.00001
|
NM_001384140.1(PCDH15):c.2013C>T (p.Thr671=)
|
rs374838856
|
0.00001
|
NM_001384140.1(PCDH15):c.2056C>T (p.Leu686=)
|
rs779268739
|
0.00001
|
NM_001384140.1(PCDH15):c.2067A>G (p.Thr689=)
|
rs538304958
|
0.00001
|
NM_001384140.1(PCDH15):c.206C>T (p.Pro69Leu)
|
rs769113786
|
0.00001
|
NM_001384140.1(PCDH15):c.2091+8T>C
|
rs752225683
|
0.00001
|
NM_001384140.1(PCDH15):c.2092-6T>C
|
rs780684363
|
0.00001
|
NM_001384140.1(PCDH15):c.2134G>A (p.Asp712Asn)
|
rs1485361682
|
0.00001
|
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser)
|
rs190878515
|
0.00001
|
NM_001384140.1(PCDH15):c.213C>T (p.Pro71=)
|
rs747462579
|
0.00001
|
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn)
|
rs1189952332
|
0.00001
|
NM_001384140.1(PCDH15):c.2196C>T (p.Ala732=)
|
rs770332994
|
0.00001
|
NM_001384140.1(PCDH15):c.2202C>T (p.Ala734=)
|
rs201636125
|
0.00001
|
NM_001384140.1(PCDH15):c.2221-9A>T
|
rs1338617951
|
0.00001
|
NM_001384140.1(PCDH15):c.2247T>C (p.Asn749=)
|
rs1391947503
|
0.00001
|
NM_001384140.1(PCDH15):c.2250T>A (p.Gly750=)
|
rs1452282788
|
0.00001
|
NM_001384140.1(PCDH15):c.2292T>C (p.Arg764=)
|
rs1240219060
|
0.00001
|
NM_001384140.1(PCDH15):c.2316C>T (p.Tyr772=)
|
rs756048474
|
0.00001
|
NM_001384140.1(PCDH15):c.2333A>G (p.Asn778Ser)
|
rs754777315
|
0.00001
|
NM_001384140.1(PCDH15):c.2336G>T (p.Arg779Ile)
|
rs750573995
|
0.00001
|
NM_001384140.1(PCDH15):c.2348A>G (p.Asp783Gly)
|
rs765443935
|
0.00001
|
NM_001384140.1(PCDH15):c.2358A>C (p.Glu786Asp)
|
rs764628908
|
0.00001
|
NM_001384140.1(PCDH15):c.2385A>G (p.Ala795=)
|
rs61731362
|
0.00001
|
NM_001384140.1(PCDH15):c.2389C>T (p.His797Tyr)
|
rs1333595432
|
0.00001
|
NM_001384140.1(PCDH15):c.2391C>T (p.His797=)
|
rs748017277
|
0.00001
|
NM_001384140.1(PCDH15):c.2400T>C (p.His800=)
|
rs1400103823
|
0.00001
|
NM_001384140.1(PCDH15):c.2407C>T (p.Leu803=)
|
rs1346492808
|
0.00001
|
NM_001384140.1(PCDH15):c.2410A>T (p.Thr804Ser)
|
rs2092971839
|
0.00001
|
NM_001384140.1(PCDH15):c.2436T>G (p.Ile812Met)
|
rs1448817998
|
0.00001
|
NM_001384140.1(PCDH15):c.2441A>G (p.Asp814Gly)
|
rs200430672
|
0.00001
|
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=)
|
rs768200772
|
0.00001
|
NM_001384140.1(PCDH15):c.2449C>T (p.Pro817Ser)
|
rs759961676
|
0.00001
|
NM_001384140.1(PCDH15):c.2450C>T (p.Pro817Leu)
|
rs1399196807
|
0.00001
|
NM_001384140.1(PCDH15):c.2462A>G (p.Asn821Ser)
|
rs147831990
|
0.00001
|
NM_001384140.1(PCDH15):c.250T>C (p.Trp84Arg)
|
rs752604584
|
0.00001
|
NM_001384140.1(PCDH15):c.2526+9G>A
|
rs1415249620
|
0.00001
|
NM_001384140.1(PCDH15):c.2527-4A>T
|
rs778122810
|
0.00001
|
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn)
|
rs751941551
|
0.00001
|
NM_001384140.1(PCDH15):c.2573G>A (p.Ser858Asn)
|
rs775276705
|
0.00001
|
NM_001384140.1(PCDH15):c.2616A>G (p.Gly872=)
|
rs1254338106
|
0.00001
|
NM_001384140.1(PCDH15):c.261G>A (p.Met87Ile)
|
rs1289815447
|
0.00001
|
NM_001384140.1(PCDH15):c.2622A>G (p.Leu874=)
|
rs1419751426
|
0.00001
|
NM_001384140.1(PCDH15):c.2649G>A (p.Glu883=)
|
rs779197038
|
0.00001
|
NM_001384140.1(PCDH15):c.2679T>G (p.Thr893=)
|
rs1312818254
|
0.00001
|
NM_001384140.1(PCDH15):c.2685G>C (p.Leu895=)
|
rs759471464
|
0.00001
|
NM_001384140.1(PCDH15):c.2691G>A (p.Glu897=)
|
rs876657952
|
0.00001
|
NM_001384140.1(PCDH15):c.2696T>G (p.Phe899Cys)
|
rs958092001
|
0.00001
|
NM_001384140.1(PCDH15):c.2709A>G (p.Gly903=)
|
rs886047064
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.27A>G (p.Thr9=)
|
rs1178626838
|
0.00001
|
NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu)
|
rs771024131
|
0.00001
|
NM_001384140.1(PCDH15):c.2817A>C (p.Ala939=)
|
rs763397647
|
0.00001
|
NM_001384140.1(PCDH15):c.2833A>G (p.Ile945Val)
|
rs773566320
|
0.00001
|
NM_001384140.1(PCDH15):c.2856T>C (p.Asp952=)
|
rs187811627
|
0.00001
|
NM_001384140.1(PCDH15):c.290A>G (p.Asn97Ser)
|
rs1948816721
|
0.00001
|
NM_001384140.1(PCDH15):c.2932A>G (p.Ile978Val)
|
rs755894176
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_001384140.1(PCDH15):c.2979T>C (p.Asn993=)
|
rs1244022175
|
0.00001
|
NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly)
|
rs1223956690
|
0.00001
|
NM_001384140.1(PCDH15):c.3001A>G (p.Ile1001Val)
|
rs146327982
|
0.00001
|
NM_001384140.1(PCDH15):c.3010-15T>G
|
rs777943892
|
0.00001
|
NM_001384140.1(PCDH15):c.3010-19A>G
|
rs1377927467
|
0.00001
|
NM_001384140.1(PCDH15):c.3010-7T>C
|
rs781753578
|
0.00001
|
NM_001384140.1(PCDH15):c.3042T>C (p.Pro1014=)
|
rs775306686
|
0.00001
|
NM_001384140.1(PCDH15):c.3069G>A (p.Lys1023=)
|
rs769983940
|
0.00001
|
NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys)
|
rs780335938
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+1G>T
|
rs982893820
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+3A>G
|
rs373365331
|
0.00001
|
NM_001384140.1(PCDH15):c.319-18G>A
|
rs761263266
|
0.00001
|
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=)
|
rs776720353
|
0.00001
|
NM_001384140.1(PCDH15):c.3228A>G (p.Glu1076=)
|
rs1437741307
|
0.00001
|
NM_001384140.1(PCDH15):c.324G>A (p.Pro108=)
|
rs778801885
|
0.00001
|
NM_001384140.1(PCDH15):c.3252C>T (p.Asn1084=)
|
rs995360945
|
0.00001
|
NM_001384140.1(PCDH15):c.3276T>C (p.Asn1092=)
|
rs772160626
|
0.00001
|
NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=)
|
rs749666237
|
0.00001
|
NM_001384140.1(PCDH15):c.3309T>C (p.Tyr1103=)
|
rs769295133
|
0.00001
|
NM_001384140.1(PCDH15):c.3321C>G (p.Val1107=)
|
rs371025094
|
0.00001
|
NM_001384140.1(PCDH15):c.3324A>G (p.Gln1108=)
|
rs377530500
|
0.00001
|
NM_001384140.1(PCDH15):c.3339A>G (p.Glu1113=)
|
rs2085802583
|
0.00001
|
NM_001384140.1(PCDH15):c.3353A>G (p.Asn1118Ser)
|
rs544044508
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+1G>A
|
rs2085799827
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+8A>T
|
rs2085798721
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+9T>C
|
rs747731752
|
0.00001
|
NM_001384140.1(PCDH15):c.3374-19A>G
|
rs1459198722
|
0.00001
|
NM_001384140.1(PCDH15):c.3374-7C>T
|
rs377480411
|
0.00001
|
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr)
|
rs200748221
|
0.00001
|
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)
|
rs1200451014
|
0.00001
|
NM_001384140.1(PCDH15):c.3444C>T (p.Phe1148=)
|
rs876657562
|
0.00001
|
NM_001384140.1(PCDH15):c.344T>C (p.Val115Ala)
|
rs1315804369
|
0.00001
|
NM_001384140.1(PCDH15):c.3496G>A (p.Val1166Met)
|
rs145102285
|
0.00001
|
NM_001384140.1(PCDH15):c.3497T>A (p.Val1166Glu)
|
rs1469221801
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+13A>G
|
rs727503365
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+20T>C
|
rs762512156
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+7G>T
|
rs756402556
|
0.00001
|
NM_001384140.1(PCDH15):c.3502-14T>C
|
rs575971829
|
0.00001
|
NM_001384140.1(PCDH15):c.3502-7C>T
|
rs757876538
|
0.00001
|
NM_001384140.1(PCDH15):c.3522C>A (p.Gly1174=)
|
rs753725514
|
0.00001
|
NM_001384140.1(PCDH15):c.3528T>C (p.Tyr1176=)
|
rs371200381
|
0.00001
|
NM_001384140.1(PCDH15):c.3627C>T (p.Leu1209=)
|
rs1400536456
|
0.00001
|
NM_001384140.1(PCDH15):c.3654C>T (p.Phe1218=)
|
rs1439589955
|
0.00001
|
NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg)
|
rs763978654
|
0.00001
|
NM_001384140.1(PCDH15):c.3657G>A (p.Lys1219=)
|
rs1240620059
|
0.00001
|
NM_001384140.1(PCDH15):c.3678C>T (p.Asp1226=)
|
rs769900736
|
0.00001
|
NM_001384140.1(PCDH15):c.3679G>A (p.Asp1227Asn)
|
rs368127988
|
0.00001
|
NM_001384140.1(PCDH15):c.368A>G (p.Lys123Arg)
|
rs757563938
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3718-10C>T
|
rs919380715
|
0.00001
|
NM_001384140.1(PCDH15):c.3719T>A (p.Val1240Asp)
|
rs397517458
|
0.00001
|
NM_001384140.1(PCDH15):c.3731A>G (p.Asn1244Ser)
|
rs1264819441
|
0.00001
|
NM_001384140.1(PCDH15):c.3767C>T (p.Pro1256Leu)
|
rs949234256
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3840T>C (p.Pro1280=)
|
rs1304146421
|
0.00001
|
NM_001384140.1(PCDH15):c.3900A>G (p.Leu1300=)
|
rs1431942619
|
0.00001
|
NM_001384140.1(PCDH15):c.3927T>C (p.Thr1309=)
|
rs1165789834
|
0.00001
|
NM_001384140.1(PCDH15):c.3932A>G (p.Tyr1311Cys)
|
rs752031456
|
0.00001
|
NM_001384140.1(PCDH15):c.3933T>C (p.Tyr1311=)
|
rs141008938
|
0.00001
|
NM_001384140.1(PCDH15):c.393T>C (p.His131=)
|
rs1490765892
|
0.00001
|
NM_001384140.1(PCDH15):c.3963C>T (p.Ile1321=)
|
rs781522540
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+9T>C
|
rs982615149
|
0.00001
|
NM_001384140.1(PCDH15):c.3984-7A>T
|
rs780118478
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.402A>G (p.Arg134=)
|
rs368763164
|
0.00001
|
NM_001384140.1(PCDH15):c.4077A>G (p.Ala1359=)
|
rs140813069
|
0.00001
|
NM_001384140.1(PCDH15):c.4096A>G (p.Arg1366Gly)
|
rs745985513
|
0.00001
|
NM_001384140.1(PCDH15):c.4158C>G (p.Leu1386=)
|
rs1253422113
|
0.00001
|
NM_001384140.1(PCDH15):c.4161C>T (p.Cys1387=)
|
rs1285582987
|
0.00001
|
NM_001384140.1(PCDH15):c.4177T>C (p.Leu1393=)
|
rs1464924888
|
0.00001
|
NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg)
|
rs376146659
|
0.00001
|
NM_001384140.1(PCDH15):c.4202+10C>T
|
rs957748149
|
0.00001
|
NM_001384140.1(PCDH15):c.4202+13G>C
|
rs1443233585
|
0.00001
|
NM_001384140.1(PCDH15):c.4202+3A>G
|
rs1564563130
|
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.4240C>T (p.Arg1414Ter)
|
rs1421575182
|
0.00001
|
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)
|
rs765215862
|
0.00001
|
NM_001384140.1(PCDH15):c.4253C>T (p.Ala1418Val)
|
rs2076763093
|
0.00001
|
NM_001384140.1(PCDH15):c.4260C>T (p.Pro1420=)
|
rs775658931
|
0.00001
|
NM_001384140.1(PCDH15):c.4275A>T (p.Ala1425=)
|
rs774100942
|
0.00001
|
NM_001384140.1(PCDH15):c.4290A>T (p.Ala1430=)
|
rs1472367791
|
0.00001
|
NM_001384140.1(PCDH15):c.4294G>C (p.Val1432Leu)
|
rs886043533
|
0.00001
|
NM_001384140.1(PCDH15):c.429C>T (p.Asn143=)
|
rs772672479
|
0.00001
|
NM_001384140.1(PCDH15):c.4301C>T (p.Ala1434Val)
|
rs572629527
|
0.00001
|
NM_001384140.1(PCDH15):c.4335G>A (p.Ala1445=)
|
rs570557379
|
0.00001
|
NM_001384140.1(PCDH15):c.4360A>G (p.Ser1454Gly)
|
rs144616228
|
0.00001
|
NM_001384140.1(PCDH15):c.4367+8G>A
|
rs727504745
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-2238_4368-2227del
|
rs746591991
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3135T>C
|
rs1252455330
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3136C>G
|
rs1280849622
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3138T>G
|
rs1270575255
|
0.00001
|
NM_001384140.1(PCDH15):c.4671+1192C>T
|
rs935682630
|
0.00001
|
NM_001384140.1(PCDH15):c.4671+1624G>A
|
rs1285905443
|
0.00001
|
NM_001384140.1(PCDH15):c.524G>A (p.Gly175Glu)
|
rs766924319
|
0.00001
|
NM_001384140.1(PCDH15):c.527C>T (p.Ala176Val)
|
rs1379900720
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384140.1(PCDH15):c.562G>C (p.Glu188Gln)
|
rs1943290647
|
0.00001
|
NM_001384140.1(PCDH15):c.566A>G (p.Tyr189Cys)
|
rs760309437
|
0.00001
|
NM_001384140.1(PCDH15):c.636A>G (p.Gly212=)
|
rs1414757654
|
0.00001
|
NM_001384140.1(PCDH15):c.675G>A (p.Lys225=)
|
rs1403705158
|
0.00001
|
NM_001384140.1(PCDH15):c.714C>G (p.Ala238=)
|
rs1366085441
|
0.00001
|
NM_001384140.1(PCDH15):c.73T>C (p.Leu25=)
|
rs749697716
|
0.00001
|
NM_001384140.1(PCDH15):c.783G>A (p.Leu261=)
|
rs757883412
|
0.00001
|
NM_001384140.1(PCDH15):c.789A>G (p.Pro263=)
|
rs1221887715
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001384140.1(PCDH15):c.814C>G (p.Pro272Ala)
|
rs1380529068
|
0.00001
|
NM_001384140.1(PCDH15):c.816A>G (p.Pro272=)
|
rs1351980562
|
0.00001
|
NM_001384140.1(PCDH15):c.832C>T (p.Arg278Cys)
|
rs767577700
|
0.00001
|
NM_001384140.1(PCDH15):c.876+10C>T
|
rs778754722
|
0.00001
|
NM_001384140.1(PCDH15):c.907C>T (p.Pro303Ser)
|
rs1283485823
|
0.00001
|
NM_001384140.1(PCDH15):c.925C>A (p.Gln309Lys)
|
rs762029000
|
0.00001
|
NM_001384140.1(PCDH15):c.978C>T (p.Ile326=)
|
rs563269633
|
0.00001
|
NM_001384140.1(PCDH15):c.985+6dup
|
rs777491892
|
0.00001
|
NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg)
|
rs781324011
|
0.00001
|
NM_033056.4(PCDH15):c.4394A>G (p.Gln1465Arg)
|
rs1393874885
|
0.00001
|
NM_033056.4(PCDH15):c.4403_4418dup (p.Ser1473_Glu1474insLysTer)
|
rs1326692199
|
0.00001
|
NM_033056.4(PCDH15):c.4431A>G (p.Lys1477=)
|
rs756871318
|
0.00001
|
NM_033056.4(PCDH15):c.4449G>A (p.Met1483Ile)
|
rs2076430508
|
0.00001
|
NM_033056.4(PCDH15):c.4459T>C (p.Ser1487Pro)
|
rs727504071
|
0.00001
|
NM_033056.4(PCDH15):c.4486G>A (p.Ala1496Thr)
|
rs1415736170
|
0.00001
|
NM_033056.4(PCDH15):c.4509G>A (p.Lys1503=)
|
rs905422262
|
0.00001
|
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=)
|
rs200141161
|
0.00001
|
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer)
|
rs746017823
|
0.00001
|
NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn)
|
rs768952458
|
0.00001
|
NM_033056.4(PCDH15):c.4592_4627dup (p.Ser1543Ter)
|
rs1442366836
|
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.4632G>A (p.Gln1544=)
|
rs2076412292
|
0.00001
|
NM_033056.4(PCDH15):c.4666A>G (p.Ile1556Val)
|
rs922438301
|
0.00001
|
NM_033056.4(PCDH15):c.4698A>G (p.Pro1566=)
|
rs747777278
|
0.00001
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00001
|
NM_033056.4(PCDH15):c.4739T>C (p.Leu1580Ser)
|
rs2076401965
|
0.00001
|
NM_033056.4(PCDH15):c.4762G>A (p.Val1588Ile)
|
rs774226248
|
0.00001
|
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=)
|
rs372095792
|
0.00001
|
NM_033056.4(PCDH15):c.4797G>A (p.Gln1599=)
|
rs563147370
|
0.00001
|
NM_033056.4(PCDH15):c.4836T>C (p.Thr1612=)
|
rs777727173
|
0.00001
|
NM_033056.4(PCDH15):c.4845T>C (p.Cys1615=)
|
rs1367656585
|
0.00001
|
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala)
|
rs751863041
|
0.00001
|
NM_033056.4(PCDH15):c.4893A>G (p.Ala1631=)
|
rs776916605
|
0.00001
|
NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs)
|
rs748611625
|
0.00001
|
NM_033056.4(PCDH15):c.4968C>T (p.Leu1656=)
|
rs750443683
|
0.00001
|
NM_033056.4(PCDH15):c.4977C>T (p.Asp1659=)
|
rs1554820407
|
0.00001
|
NM_033056.4(PCDH15):c.5028T>A (p.Thr1676=)
|
rs775752587
|
0.00001
|
NM_033056.4(PCDH15):c.5068A>T (p.Ile1690Phe)
|
rs1375062684
|
0.00001
|
NM_033056.4(PCDH15):c.5115T>C (p.Pro1705=)
|
rs2076366066
|
0.00001
|
NM_033056.4(PCDH15):c.5124_5136del (p.Leu1708fs)
|
rs748573572
|
0.00001
|
NM_033056.4(PCDH15):c.5194G>A (p.Glu1732Lys)
|
rs779147587
|
0.00001
|
NM_033056.4(PCDH15):c.5195A>C (p.Glu1732Ala)
|
rs1369826568
|
0.00001
|
NM_033056.4(PCDH15):c.5204C>T (p.Ala1735Val)
|
rs749342805
|
0.00001
|
NM_033056.4(PCDH15):c.5210C>T (p.Pro1737Leu)
|
rs1339913420
|
0.00001
|
NM_033056.4(PCDH15):c.5253T>C (p.Pro1751=)
|
rs1393186965
|
0.00001
|
NM_033056.4(PCDH15):c.5256T>A (p.Pro1752=)
|
rs761798683
|
0.00001
|
NM_033056.4(PCDH15):c.5269T>C (p.Ser1757Pro)
|
rs542243503
|
0.00001
|
NM_033056.4(PCDH15):c.5312T>G (p.Ile1771Ser)
|
rs1437288212
|
0.00001
|
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met)
|
rs886047061
|
0.00001
|
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=)
|
rs727503362
|
0.00001
|
NM_033056.4(PCDH15):c.5367T>G (p.Pro1789=)
|
rs770691111
|
0.00001
|
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu)
|
rs1268531021
|
0.00001
|
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser)
|
rs775203432
|
0.00001
|
NM_033056.4(PCDH15):c.5394T>G (p.Leu1798=)
|
rs771831842
|
0.00001
|
NM_033056.4(PCDH15):c.5473A>G (p.Ile1825Val)
|
rs762129080
|
0.00001
|
NM_033056.4(PCDH15):c.5527A>G (p.Ile1843Val)
|
rs536348883
|
0.00001
|
NM_033056.4(PCDH15):c.5586G>A (p.Met1862Ile)
|
rs371762506
|
0.00001
|
NM_033056.4(PCDH15):c.5595A>G (p.Leu1865=)
|
rs555529578
|
0.00001
|
NM_033056.4(PCDH15):c.5604G>A (p.Thr1868=)
|
rs747596359
|
0.00001
|
NM_033056.4(PCDH15):c.5620G>A (p.Asp1874Asn)
|
rs751570688
|
0.00001
|
NM_033056.4(PCDH15):c.5623C>A (p.Pro1875Thr)
|
rs758308006
|
0.00001
|
NM_033056.4(PCDH15):c.5655C>T (p.His1885=)
|
rs758953502
|
0.00001
|
NM_033056.4(PCDH15):c.5656G>A (p.Val1886Ile)
|
rs767706131
|
0.00001
|
NM_033056.4(PCDH15):c.5683T>C (p.Ser1895Pro)
|
rs759950014
|
0.00001
|
NM_033056.4(PCDH15):c.5690C>G (p.Ala1897Gly)
|
rs774976789
|
0.00001
|
NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly)
|
rs763251067
|
0.00001
|
NM_033056.4(PCDH15):c.5748A>G (p.Gln1916=)
|
rs753023544
|
0.00001
|
NM_033056.4(PCDH15):c.5798A>G (p.Asn1933Ser)
|
rs761347698
|
0.00001
|
NM_033056.4(PCDH15):c.5799C>G (p.Asn1933Lys)
|
rs2076294427
|
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_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro)
|
rs751586980
|
0.00001
|
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(chr10:55468897-55645953)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:55559110-55582905)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:55581618-56288162)x6
|
|
|
GRCh37/hg19 10q21.1(chr10:55584785-55776189)x1
|
|
|
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(chr10:56362064-56762641)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
|
|
|
NC_000010.10:g.(?_55566339)_(56288162_?)del
|
|
|
NC_000010.10:g.(?_55581608)_(55626627_?)del
|
|
|
NC_000010.10:g.(?_55581618)_(55663150_?)del
|
|
|
NC_000010.10:g.(?_55581618)_(56424022_?)del
|
|
|
NC_000010.10:g.(?_55581618)_(56424022_?)dup
|
|
|
NC_000010.10:g.(?_55588305)_(55588353_?)del
|
|
|
NC_000010.10:g.(?_55616915)_(55626637_?)del
|
|
|
NC_000010.10:g.(?_55616915)_(55626637_?)dup
|
|
|
NC_000010.10:g.(?_55616925)_(55782967_?)del
|
|
|
NC_000010.10:g.(?_55616925)_(55996701_?)del
|
|
|
NC_000010.10:g.(?_55662993)_(55663140_?)dup
|
|
|
NC_000010.10:g.(?_55698555)_(55698735_?)del
|
|
|
NC_000010.10:g.(?_55698565)_(55700745_?)del
|
|
|
NC_000010.10:g.(?_55755389)_(55755545_?)dup
|
|
|
NC_000010.10:g.(?_55755389)_(55892787_?)dup
|
|
|
NC_000010.10:g.(?_55755399)_(56138712_?)del
|
|
|
NC_000010.10:g.(?_55755399)_(56424032_?)del
|
|
|
NC_000010.10:g.(?_55826507)_(56106254_?)del
|
|
|
NC_000010.10:g.(?_55826507)_(56424032_?)del
|
|
|
NC_000010.10:g.(?_55849724)_(55849843_?)del
|
|
|
NC_000010.10:g.(?_55849734)_(55849833_?)del
|
|
|
NC_000010.10:g.(?_55849734)_(55996701_?)dup
|
|
|
NC_000010.10:g.(?_55849744)_(55955649_?)del
|
|
|
NC_000010.10:g.(?_55892625)_(55892777_?)del
|
|
|
NC_000010.10:g.(?_55892683)_(55893842_?)del
|
|
|
NC_000010.10:g.(?_55912840)_(55913073_?)dup
|
|
|
NC_000010.10:g.(?_55912850)_(55935851_?)dup
|
|
|
NC_000010.10:g.(?_55912850)_(56138712_?)del
|
|
|
NC_000010.10:g.(?_55943194)_(55996701_?)del
|
|
|
NC_000010.10:g.(?_55955423)_(55955669_?)del
|
|
|
NC_000010.10:g.(?_55955423)_(55955669_?)dup
|
|
|
NC_000010.10:g.(?_55973686)_(55973818_?)del
|
|
|
NC_000010.10:g.(?_55996563)_(56089486_?)del
|
|
|
NC_000010.10:g.(?_56077021)_(56138712_?)dup
|
|
|
NC_000010.10:g.(?_56077031)_(56106244_?)del
|
|
|
NC_000010.10:g.(?_56106115)_(56106254_?)del
|
|
|
NC_000010.10:g.(?_56287562)_(56288172_?)del
|
|
|
NC_000010.10:g.(?_56423912)_(56424022_?)dup
|
|
|
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.(?_53903233)_(53903380_?)del
|
|
|
NC_000010.11:g.(?_53903233)_(54664272_?)del
|
|
|
NC_000010.11:g.(?_53938805)_(54664272_?)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.(?_54527802)_(54664272_?)del
|
|
|
NC_000010.11:g.53831308TACT[3]
|
|
|
NC_000010.11:g.53840315CTTA[3]
|
|
|
NM_001384140.1(PCDH15):c.*144GA[4]
|
rs149757971
|
|
NM_001384140.1(PCDH15):c.1001dup (p.Tyr334Ter)
|
|
|
NM_001384140.1(PCDH15):c.1002C>T (p.Tyr334=)
|
|
|
NM_001384140.1(PCDH15):c.1006C>A (p.Arg336=)
|
|
|
NM_001384140.1(PCDH15):c.1008A>G (p.Arg336=)
|
|
|
NM_001384140.1(PCDH15):c.1021C>T (p.His341Tyr)
|
rs2134107938
|
|
NM_001384140.1(PCDH15):c.1034C>T (p.Ala345Val)
|
rs759047277
|
|
NM_001384140.1(PCDH15):c.1037A>G (p.Glu346Gly)
|
|
|
NM_001384140.1(PCDH15):c.1047C>A (p.Leu349=)
|
|
|
NM_001384140.1(PCDH15):c.1047C>G (p.Leu349=)
|
|
|
NM_001384140.1(PCDH15):c.1050G>A (p.Leu350=)
|
|
|
NM_001384140.1(PCDH15):c.1056A>G (p.Pro352=)
|
|
|
NM_001384140.1(PCDH15):c.1059A>G (p.Val353=)
|
|
|
NM_001384140.1(PCDH15):c.1067A>T (p.Asp356Val)
|
rs2051721465
|
|
NM_001384140.1(PCDH15):c.1068C>T (p.Asp356=)
|
|
|
NM_001384140.1(PCDH15):c.1074C>G (p.His358Gln)
|
rs2134107295
|
|
NM_001384140.1(PCDH15):c.1074C>T (p.His358=)
|
|
|
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter)
|
rs2051720336
|
|
NM_001384140.1(PCDH15):c.1076A>T (p.Gln359Leu)
|
rs2134107251
|
|
NM_001384140.1(PCDH15):c.1081T>C (p.Phe361Leu)
|
rs2134107228
|
|
NM_001384140.1(PCDH15):c.1087T>C (p.Leu363=)
|
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.1095T>C (p.Ile365=)
|
rs2051718818
|
|
NM_001384140.1(PCDH15):c.1098+13A>T
|
|
|
NM_001384140.1(PCDH15):c.1098+18C>T
|
|
|
NM_001384140.1(PCDH15):c.1098+7T>C
|
|
|
NM_001384140.1(PCDH15):c.1099-10T>A
|
rs2133925934
|
|
NM_001384140.1(PCDH15):c.1099-10dup
|
|
|
NM_001384140.1(PCDH15):c.1099-11_1099-10del
|
rs2133925954
|
|
NM_001384140.1(PCDH15):c.1099-14C>T
|
|
|
NM_001384140.1(PCDH15):c.1099-15T>C
|
|
|
NM_001384140.1(PCDH15):c.1099-16T>C
|
|
|
NM_001384140.1(PCDH15):c.1099-19C>A
|
rs771313944
|
|
NM_001384140.1(PCDH15):c.1099-19C>G
|
rs771313944
|
|
NM_001384140.1(PCDH15):c.1099-19C>T
|
|
|
NM_001384140.1(PCDH15):c.1099-20del
|
|
|
NM_001384140.1(PCDH15):c.1099-23TTTTC[2]
|
rs757918163
|
|
NM_001384140.1(PCDH15):c.1099-5T>G
|
|
|
NM_001384140.1(PCDH15):c.10C>T (p.Gln4Ter)
|
|
|
NM_001384140.1(PCDH15):c.1101T>C (p.Ala367=)
|
|
|
NM_001384140.1(PCDH15):c.1103A>G (p.Glu368Gly)
|
|
|
NM_001384140.1(PCDH15):c.1134T>G (p.Phe378Leu)
|
|
|
NM_001384140.1(PCDH15):c.1136C>T (p.Ala379Val)
|
rs2049565591
|
|
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=)
|
rs1315291067
|
|
NM_001384140.1(PCDH15):c.1145A>G (p.His382Arg)
|
|
|
NM_001384140.1(PCDH15):c.1146C>T (p.His382=)
|
rs773302482
|
|
NM_001384140.1(PCDH15):c.1147A>G (p.Ile383Val)
|
|
|
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476
|
|
NM_001384140.1(PCDH15):c.1170T>C (p.Asn390=)
|
rs1329583537
|
|
NM_001384140.1(PCDH15):c.1175del (p.Ser392fs)
|
rs2133924837
|
|
NM_001384140.1(PCDH15):c.1182T>C (p.Tyr394=)
|
rs2133924711
|
|
NM_001384140.1(PCDH15):c.1190T>A (p.Met397Lys)
|
rs2049553609
|
|
NM_001384140.1(PCDH15):c.1194del (p.Ser399fs)
|
|
|
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.1201C>T (p.Gln401Ter)
|
|
|
NM_001384140.1(PCDH15):c.1204G>A (p.Gly402Ser)
|
|
|
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
NM_001384140.1(PCDH15):c.1215G>A (p.Leu405=)
|
|
|
NM_001384140.1(PCDH15):c.1218A>G (p.Glu406=)
|
rs1391412746
|
|
NM_001384140.1(PCDH15):c.1224C>T (p.Ala408=)
|
|
|
NM_001384140.1(PCDH15):c.1231G>A (p.Gly411Arg)
|
rs2133924160
|
|
NM_001384140.1(PCDH15):c.1255A>C (p.Asn419His)
|
|
|
NM_001384140.1(PCDH15):c.1274G>T (p.Arg425Ile)
|
|
|
NM_001384140.1(PCDH15):c.1275A>G (p.Arg425=)
|
|
|
NM_001384140.1(PCDH15):c.1281A>C (p.Val427=)
|
|
|
NM_001384140.1(PCDH15):c.1281A>G (p.Val427=)
|
|
|
NM_001384140.1(PCDH15):c.1284T>G (p.Ala428=)
|
|
|
NM_001384140.1(PCDH15):c.1287G>A (p.Leu429=)
|
|
|
NM_001384140.1(PCDH15):c.1290C>T (p.Asp430=)
|
|
|
NM_001384140.1(PCDH15):c.12G>A (p.Gln4=)
|
|
|
NM_001384140.1(PCDH15):c.1302A>C (p.Glu434Asp)
|
|
|
NM_001384140.1(PCDH15):c.1304_1305delinsCC (p.Asp435Ala)
|
rs2133923367
|
|
NM_001384140.1(PCDH15):c.1305+11T>C
|
|
|
NM_001384140.1(PCDH15):c.1305+1G>A
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1del
|
rs1554833699
|
|
NM_001384140.1(PCDH15):c.1305+2T>G
|
rs2049531217
|
|
NM_001384140.1(PCDH15):c.1305+3_1305+6dup
|
|
|
NM_001384140.1(PCDH15):c.1306-11T>C
|
|
|
NM_001384140.1(PCDH15):c.1306-11T>G
|
|
|
NM_001384140.1(PCDH15):c.1306-13T>C
|
rs1301789219
|
|
NM_001384140.1(PCDH15):c.1306-14A>T
|
|
|
NM_001384140.1(PCDH15):c.1306-14del
|
|
|
NM_001384140.1(PCDH15):c.1306-1G>C
|
rs1299990309
|
|
NM_001384140.1(PCDH15):c.1306-1G>T
|
rs1299990309
|
|
NM_001384140.1(PCDH15):c.1306-21C>T
|
rs181781496
|
|
NM_001384140.1(PCDH15):c.1306-2A>G
|
|
|
NM_001384140.1(PCDH15):c.1306-3A>G
|
rs2133818771
|
|
NM_001384140.1(PCDH15):c.1306-4110C>T
|
rs749675729
|
|
NM_001384140.1(PCDH15):c.1306-4237del
|
rs5785045
|
|
NM_001384140.1(PCDH15):c.1306-6del
|
|
|
NM_001384140.1(PCDH15):c.1306-6dup
|
rs750120473
|
|
NM_001384140.1(PCDH15):c.1306-8T>G
|
rs1351277416
|
|
NM_001384140.1(PCDH15):c.1306-9T>C
|
|
|
NM_001384140.1(PCDH15):c.1313del (p.Asp438fs)
|
rs2133818635
|
|
NM_001384140.1(PCDH15):c.1314C>T (p.Asp438=)
|
rs2048386407
|
|
NM_001384140.1(PCDH15):c.1338T>A (p.Asn446Lys)
|
|
|
NM_001384140.1(PCDH15):c.1338T>C (p.Asn446=)
|
rs1461685230
|
|
NM_001384140.1(PCDH15):c.1343_1350del (p.Tyr448fs)
|
rs2048383082
|
|
NM_001384140.1(PCDH15):c.1344C>T (p.Tyr448=)
|
rs2133818301
|
|
NM_001384140.1(PCDH15):c.1347C>T (p.Thr449=)
|
rs778642329
|
|
NM_001384140.1(PCDH15):c.1353C>A (p.Val451=)
|
|
|
NM_001384140.1(PCDH15):c.1357_1358del (p.Thr453fs)
|
rs2133818115
|
|
NM_001384140.1(PCDH15):c.1365A>G (p.Thr455=)
|
rs143772634
|
|
NM_001384140.1(PCDH15):c.1368G>A (p.Gln456=)
|
rs1362893430
|
|
NM_001384140.1(PCDH15):c.1379C>T (p.Thr460Ile)
|
rs773884678
|
|
NM_001384140.1(PCDH15):c.1381C>T (p.Arg461Cys)
|
|
|
NM_001384140.1(PCDH15):c.1387_1396del (p.Leu463fs)
|
|
|
NM_001384140.1(PCDH15):c.1392C>T (p.Thr464=)
|
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1404A>G (p.Pro468=)
|
rs2133817644
|
|
NM_001384140.1(PCDH15):c.1406T>C (p.Val469Ala)
|
|
|
NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly)
|
rs1294048440
|
|
NM_001384140.1(PCDH15):c.1416A>G (p.Glu472=)
|
rs2133817550
|
|
NM_001384140.1(PCDH15):c.1420C>G (p.Gln474Glu)
|
|
|
NM_001384140.1(PCDH15):c.1422G>A (p.Gln474=)
|
|
|
NM_001384140.1(PCDH15):c.1425A>G (p.Gln475=)
|
rs2133817445
|
|
NM_001384140.1(PCDH15):c.1428T>G (p.Thr476=)
|
|
|
NM_001384140.1(PCDH15):c.1440+13T>G
|
|
|
NM_001384140.1(PCDH15):c.1440+14G>A
|
|
|
NM_001384140.1(PCDH15):c.1440+14G>C
|
|
|
NM_001384140.1(PCDH15):c.1440+17T>C
|
|
|
NM_001384140.1(PCDH15):c.1440+2T>C
|
rs1363688830
|
|
NM_001384140.1(PCDH15):c.1440+8G>A
|
rs991079651
|
|
NM_001384140.1(PCDH15):c.1440G>A (p.Ser480=)
|
|
|
NM_001384140.1(PCDH15):c.1441-102del
|
rs371725848
|
|
NM_001384140.1(PCDH15):c.1441-10C>T
|
|
|
NM_001384140.1(PCDH15):c.1441-11T>C
|
|
|
NM_001384140.1(PCDH15):c.1441-12C>G
|
|
|
NM_001384140.1(PCDH15):c.1441-13T>C
|
|
|
NM_001384140.1(PCDH15):c.1441-17T>G
|
|
|
NM_001384140.1(PCDH15):c.1441-2A>C
|
rs758482449
|
|
NM_001384140.1(PCDH15):c.1441-8T>C
|
|
|
NM_001384140.1(PCDH15):c.1441-9C>T
|
|
|
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr)
|
rs1564625358
|
|
NM_001384140.1(PCDH15):c.1446A>T (p.Thr482=)
|
|
|
NM_001384140.1(PCDH15):c.1449A>T (p.Ala483=)
|
rs1190323123
|
|
NM_001384140.1(PCDH15):c.1450T>C (p.Phe484Leu)
|
rs565753445
|
|
NM_001384140.1(PCDH15):c.1458T>A (p.Gly486=)
|
rs894911417
|
|
NM_001384140.1(PCDH15):c.1461A>G (p.Val487=)
|
|
|
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)
|
rs2133801342
|
|
NM_001384140.1(PCDH15):c.1470T>C (p.Ser490=)
|
|
|
NM_001384140.1(PCDH15):c.1471G>A (p.Glu491Lys)
|
|
|
NM_001384140.1(PCDH15):c.1473G>A (p.Glu491=)
|
rs1033868869
|
|
NM_001384140.1(PCDH15):c.1475dup (p.Val493fs)
|
rs1591019480
|
|
NM_001384140.1(PCDH15):c.1482C>T (p.Ile494=)
|
rs1402828073
|
|
NM_001384140.1(PCDH15):c.1487A>G (p.Asn496Ser)
|
rs1398600387
|
|
NM_001384140.1(PCDH15):c.1489A>G (p.Ile497Val)
|
rs759034797
|
|
NM_001384140.1(PCDH15):c.1499T>A (p.Met500Lys)
|
|
|
NM_001384140.1(PCDH15):c.14T>G (p.Phe5Cys)
|
rs1430074299
|
|
NM_001384140.1(PCDH15):c.1509T>G (p.Asn503Lys)
|
|
|
NM_001384140.1(PCDH15):c.1515C>T (p.Asn505=)
|
rs1445354219
|
|
NM_001384140.1(PCDH15):c.1518G>C (p.Thr506=)
|
rs141416774
|
|
NM_001384140.1(PCDH15):c.1518G>T (p.Thr506=)
|
rs141416774
|
|
NM_001384140.1(PCDH15):c.1519C>G (p.Pro507Ala)
|
|
|
NM_001384140.1(PCDH15):c.1521A>G (p.Pro507=)
|
rs1209765760
|
|
NM_001384140.1(PCDH15):c.1527C>A (p.Phe509Leu)
|
rs2048201312
|
|
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs)
|
rs767847479
|
|
NM_001384140.1(PCDH15):c.1533A>G (p.Glu511=)
|
rs2133800421
|
|
NM_001384140.1(PCDH15):c.1539C>T (p.Ser513=)
|
|
|
NM_001384140.1(PCDH15):c.1541A>G (p.Tyr514Cys)
|
|
|
NM_001384140.1(PCDH15):c.1542T>C (p.Tyr514=)
|
|
|
NM_001384140.1(PCDH15):c.1545T>C (p.Asp515=)
|
rs2133800266
|
|
NM_001384140.1(PCDH15):c.1546G>A (p.Val516Met)
|
|
|
NM_001384140.1(PCDH15):c.1551T>C (p.Tyr517=)
|
|
|
NM_001384140.1(PCDH15):c.1557T>C (p.Tyr519=)
|
rs767134941
|
|
NM_001384140.1(PCDH15):c.1559C>T (p.Thr520Ile)
|
rs2133800068
|
|
NM_001384140.1(PCDH15):c.1560A>G (p.Thr520=)
|
rs1246834006
|
|
NM_001384140.1(PCDH15):c.1561_1580delinsTAAAAGTGTTCCTGTTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGTCATGGCCATCAGAGAAATGCAAATCAAAACATA (p.Asp521_Ser527delinsTer)
|
|
|
NM_001384140.1(PCDH15):c.1568G>C (p.Arg523Thr)
|
|
|
NM_001384140.1(PCDH15):c.1571C>G (p.Pro524Arg)
|
|
|
NM_001384140.1(PCDH15):c.1575G>C (p.Gly525=)
|
rs2048195293
|
|
NM_001384140.1(PCDH15):c.1576del (p.Asp526fs)
|
|
|
NM_001384140.1(PCDH15):c.158-10T>G
|
rs2135028305
|
|
NM_001384140.1(PCDH15):c.158-13C>T
|
|
|
NM_001384140.1(PCDH15):c.158-14T>C
|
|
|
NM_001384140.1(PCDH15):c.158-15T>C
|
|
|
NM_001384140.1(PCDH15):c.158-1G>T
|
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
NM_001384140.1(PCDH15):c.158-4G>T
|
|
|
NM_001384140.1(PCDH15):c.158-8G>C
|
|
|
NM_001384140.1(PCDH15):c.158-9G>A
|
rs2135028247
|
|
NM_001384140.1(PCDH15):c.158-9G>C
|
rs2135028247
|
|
NM_001384140.1(PCDH15):c.158-9G>T
|
|
|
NM_001384140.1(PCDH15):c.1590+12C>T
|
|
|
NM_001384140.1(PCDH15):c.1590+17_1590+21del
|
rs202125339
|
|
NM_001384140.1(PCDH15):c.1590+1G>A
|
rs2133799697
|
|
NM_001384140.1(PCDH15):c.1590+20A>C
|
rs7093302
|
|
NM_001384140.1(PCDH15):c.1590+20A>G
|
rs7093302
|
|
NM_001384140.1(PCDH15):c.1590+239T>C
|
rs10082374
|
|
NM_001384140.1(PCDH15):c.1590+8C>G
|
|
|
NM_001384140.1(PCDH15):c.1591-10dup
|
rs2044743282
|
|
NM_001384140.1(PCDH15):c.1591-11T>C
|
|
|
NM_001384140.1(PCDH15):c.1591-14A>C
|
|
|
NM_001384140.1(PCDH15):c.1591-16T>C
|
|
|
NM_001384140.1(PCDH15):c.1591-19T>C
|
|
|
NM_001384140.1(PCDH15):c.1593C>T (p.Leu531=)
|
|
|
NM_001384140.1(PCDH15):c.1602C>T (p.Val534=)
|
rs201215741
|
|
NM_001384140.1(PCDH15):c.1603G>T (p.Asp535Tyr)
|
rs946296710
|
|
NM_001384140.1(PCDH15):c.1609G>A (p.Asp537Asn)
|
rs2044739140
|
|
NM_001384140.1(PCDH15):c.1612G>A (p.Glu538Lys)
|
|
|
NM_001384140.1(PCDH15):c.1614A>G (p.Glu538=)
|
|
|
NM_001384140.1(PCDH15):c.1615G>A (p.Gly539Arg)
|
rs773321787
|
|
NM_001384140.1(PCDH15):c.1617G>A (p.Gly539=)
|
|
|
NM_001384140.1(PCDH15):c.1623T>C (p.Asn541=)
|
|
|
NM_001384140.1(PCDH15):c.1625G>C (p.Gly542Ala)
|
|
|
NM_001384140.1(PCDH15):c.1626G>A (p.Gly542=)
|
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
NM_001384140.1(PCDH15):c.1629G>A (p.Glu543=)
|
rs2133339416
|
|
NM_001384140.1(PCDH15):c.162A>G (p.Thr54=)
|
|
|
NM_001384140.1(PCDH15):c.1630dup (p.Ile544fs)
|
|
|
NM_001384140.1(PCDH15):c.1635A>G (p.Thr545=)
|
|
|
NM_001384140.1(PCDH15):c.1639G>T (p.Glu547Ter)
|
|
|
NM_001384140.1(PCDH15):c.1644C>T (p.Ile548=)
|
|
|
NM_001384140.1(PCDH15):c.1655C>T (p.Ala552Val)
|
rs1004800410
|
|
NM_001384140.1(PCDH15):c.1656T>A (p.Ala552=)
|
|
|
NM_001384140.1(PCDH15):c.1664A>C (p.Asp555Ala)
|
|
|
NM_001384140.1(PCDH15):c.1665C>T (p.Asp555=)
|
|
|
NM_001384140.1(PCDH15):c.1671C>T (p.Ile557=)
|
|
|
NM_001384140.1(PCDH15):c.1683A>G (p.Thr561=)
|
rs2133338631
|
|
NM_001384140.1(PCDH15):c.1684A>G (p.Thr562Ala)
|
rs2133338613
|
|
NM_001384140.1(PCDH15):c.1686A>G (p.Thr562=)
|
|
|
NM_001384140.1(PCDH15):c.1689G>A (p.Gly563=)
|
|
|
NM_001384140.1(PCDH15):c.168G>A (p.Leu56=)
|
|
|
NM_001384140.1(PCDH15):c.168G>T (p.Leu56=)
|
rs2135027373
|
|
NM_001384140.1(PCDH15):c.1692T>C (p.Leu564=)
|
rs2133338491
|
|
NM_001384140.1(PCDH15):c.1695C>T (p.Ile565=)
|
rs1404017386
|
|
NM_001384140.1(PCDH15):c.1698C>T (p.Thr566=)
|
|
|
NM_001384140.1(PCDH15):c.16T>A (p.Tyr6Asn)
|
rs2135422594
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.1704T>C (p.Ala568=)
|
|
|
NM_001384140.1(PCDH15):c.1709_1719del (p.Gly570fs)
|
rs2044717037
|
|
NM_001384140.1(PCDH15):c.1710G>T (p.Gly570=)
|
|
|
NM_001384140.1(PCDH15):c.1711G>A (p.Val571Met)
|
|
|
NM_001384140.1(PCDH15):c.1713G>A (p.Val571=)
|
rs2044717640
|
|
NM_001384140.1(PCDH15):c.1717del (p.Glu572_Met573insTer)
|
|
|
NM_001384140.1(PCDH15):c.1722A>C (p.Ile574=)
|
|
|
NM_001384140.1(PCDH15):c.1725C>A (p.Val575=)
|
rs748995667
|
|
NM_001384140.1(PCDH15):c.1725C>G (p.Val575=)
|
|
|
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
|
|
|
NM_001384140.1(PCDH15):c.1729C>A (p.Arg577=)
|
|
|
NM_001384140.1(PCDH15):c.1730G>T (p.Arg577Leu)
|
|
|
NM_001384140.1(PCDH15):c.1731G>A (p.Arg577=)
|
rs2044713955
|
|
NM_001384140.1(PCDH15):c.1734T>A (p.Thr578=)
|
rs2044713197
|
|
NM_001384140.1(PCDH15):c.1735T>G (p.Tyr579Asp)
|
|
|
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)
|
rs1264383341
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1737C>T (p.Tyr579=)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1744A>G (p.Thr582Ala)
|
|
|
NM_001384140.1(PCDH15):c.1744dup (p.Thr582fs)
|
|
|
NM_001384140.1(PCDH15):c.1745C>A (p.Thr582Lys)
|
|
|
NM_001384140.1(PCDH15):c.1746G>C (p.Thr582=)
|
rs2044710188
|
|
NM_001384140.1(PCDH15):c.1746G>T (p.Thr582=)
|
rs2044710188
|
|
NM_001384140.1(PCDH15):c.174C>A (p.Asp58Glu)
|
rs1169100269
|
|
NM_001384140.1(PCDH15):c.1752A>G (p.Gln584=)
|
|
|
NM_001384140.1(PCDH15):c.1755A>G (p.Ala585=)
|
rs1463317132
|
|
NM_001384140.1(PCDH15):c.1758G>A (p.Ala586=)
|
|
|
NM_001384140.1(PCDH15):c.1758G>T (p.Ala586=)
|
rs2044708589
|
|
NM_001384140.1(PCDH15):c.1764T>C (p.Asn588=)
|
|
|
NM_001384140.1(PCDH15):c.1768C>G (p.Pro590Ala)
|
|
|
NM_001384140.1(PCDH15):c.176A>G (p.Asn59Ser)
|
rs1948831467
|
|
NM_001384140.1(PCDH15):c.1770T>A (p.Pro590=)
|
rs2133336602
|
|
NM_001384140.1(PCDH15):c.1773T>G (p.Pro591=)
|
|
|
NM_001384140.1(PCDH15):c.1781G>T (p.Arg594Leu)
|
|
|
NM_001384140.1(PCDH15):c.1784+10A>G
|
rs1259252505
|
|
NM_001384140.1(PCDH15):c.1784+11T>G
|
rs769008985
|
|
NM_001384140.1(PCDH15):c.1784+13A>G
|
|
|
NM_001384140.1(PCDH15):c.1784+14G>C
|
|
|
NM_001384140.1(PCDH15):c.1784+16A>T
|
|
|
NM_001384140.1(PCDH15):c.1784+18C>A
|
|
|
NM_001384140.1(PCDH15):c.1784+18C>G
|
|
|
NM_001384140.1(PCDH15):c.1784+1_1784+12del
|
rs2133336162
|
|
NM_001384140.1(PCDH15):c.1784+9T>C
|
rs2044704583
|
|
NM_001384140.1(PCDH15):c.1785-10T>C
|
rs760677789
|
|
NM_001384140.1(PCDH15):c.1785-12C>G
|
rs764181350
|
|
NM_001384140.1(PCDH15):c.1785-14C>T
|
|
|
NM_001384140.1(PCDH15):c.1785-22_1785-20del
|
|
|
NM_001384140.1(PCDH15):c.1785-5T>C
|
rs2133062271
|
|
NM_001384140.1(PCDH15):c.1785-6C>A
|
rs1362278878
|
|
NM_001384140.1(PCDH15):c.1785-6C>G
|
rs1362278878
|
|
NM_001384140.1(PCDH15):c.1785-8C>A
|
|
|
NM_001384140.1(PCDH15):c.1785-8C>T
|
|
|
NM_001384140.1(PCDH15):c.1789T>C (p.Ser597Pro)
|
rs2133062157
|
|
NM_001384140.1(PCDH15):c.1789del (p.Ser597fs)
|
|
|
NM_001384140.1(PCDH15):c.1794C>A (p.Ile598=)
|
|
|
NM_001384140.1(PCDH15):c.17A>G (p.Tyr6Cys)
|
rs751253853
|
|
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
|
|
|
NM_001384140.1(PCDH15):c.1800T>A (p.Thr600=)
|
|
|
NM_001384140.1(PCDH15):c.1805A>G (p.Tyr602Cys)
|
|
|
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443
|
|
NM_001384140.1(PCDH15):c.1809T>C (p.Ile603=)
|
rs774896441
|
|
NM_001384140.1(PCDH15):c.181C>T (p.Leu61=)
|
|
|
NM_001384140.1(PCDH15):c.182T>G (p.Leu61Arg)
|
rs1050414439
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1831C>T (p.Gln611Ter)
|
rs1350235037
|
|
NM_001384140.1(PCDH15):c.1834A>C (p.Ser612Arg)
|
rs2133061496
|
|
NM_001384140.1(PCDH15):c.1835G>C (p.Ser612Thr)
|
rs2133061458
|
|
NM_001384140.1(PCDH15):c.1836C>T (p.Ser612=)
|
rs200226791
|
|
NM_001384140.1(PCDH15):c.1837C>T (p.Pro613Ser)
|
|
|
NM_001384140.1(PCDH15):c.1843C>A (p.Arg615Ser)
|
rs139104747
|
|
NM_001384140.1(PCDH15):c.1845C>T (p.Arg615=)
|
rs2042567727
|
|
NM_001384140.1(PCDH15):c.1849C>T (p.Pro617Ser)
|
rs1291833524
|
|
NM_001384140.1(PCDH15):c.1855C>A (p.Leu619Met)
|
rs779781651
|
|
NM_001384140.1(PCDH15):c.1855C>G (p.Leu619Val)
|
rs779781651
|
|
NM_001384140.1(PCDH15):c.1857G>C (p.Leu619=)
|
rs2133061046
|
|
NM_001384140.1(PCDH15):c.1859T>A (p.Met620Lys)
|
|
|
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)
|
rs1590691343
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
|
|
NM_001384140.1(PCDH15):c.1866C>T (p.Ser622=)
|
|
|
NM_001384140.1(PCDH15):c.186C>A (p.Ile62=)
|
|
|
NM_001384140.1(PCDH15):c.186C>T (p.Ile62=)
|
rs1304029741
|
|
NM_001384140.1(PCDH15):c.1884C>A (p.Ala628=)
|
|
|
NM_001384140.1(PCDH15):c.1887G>A (p.Met629Ile)
|
|
|
NM_001384140.1(PCDH15):c.1890G>A (p.Arg630=)
|
|
|
NM_001384140.1(PCDH15):c.1892T>C (p.Val631Ala)
|
|
|
NM_001384140.1(PCDH15):c.1895G>C (p.Gly632Ala)
|
|
|
NM_001384140.1(PCDH15):c.1899T>C (p.Ala633=)
|
rs1418804415
|
|
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=)
|
rs1554940478
|
|
NM_001384140.1(PCDH15):c.1908A>G (p.Leu636=)
|
|
|
NM_001384140.1(PCDH15):c.1913_1917+8del
|
rs2133059770
|
|
NM_001384140.1(PCDH15):c.1917+11T>C
|
|
|
NM_001384140.1(PCDH15):c.1917+11T>G
|
|
|
NM_001384140.1(PCDH15):c.1917+13G>A
|
|
|
NM_001384140.1(PCDH15):c.1917+13GT[10]
|
rs5785040
|
|
NM_001384140.1(PCDH15):c.1917+13GT[13]
|
rs5785040
|
|
NM_001384140.1(PCDH15):c.1917+13GT[14]
|
rs5785040
|
|
NM_001384140.1(PCDH15):c.1917+14T>G
|
|
|
NM_001384140.1(PCDH15):c.1917+19_1917+20insGTGTGTGGGTGT
|
|
|
NM_001384140.1(PCDH15):c.1917+1G>A
|
|
|
NM_001384140.1(PCDH15):c.1917+246A>C
|
rs4272709
|
|
NM_001384140.1(PCDH15):c.1917+2T>C
|
rs1554806149
|
|
NM_001384140.1(PCDH15):c.1917+7T>A
|
|
|
NM_001384140.1(PCDH15):c.1917+8C>A
|
rs747671187
|
|
NM_001384140.1(PCDH15):c.1917+9C>T
|
|
|
NM_001384140.1(PCDH15):c.1918-15G>C
|
|
|
NM_001384140.1(PCDH15):c.1918-1G>A
|
|
|
NM_001384140.1(PCDH15):c.1918-20A>T
|
|
|
NM_001384140.1(PCDH15):c.1918-8C>T
|
rs2136050318
|
|
NM_001384140.1(PCDH15):c.1926T>A (p.Asp642Glu)
|
|
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
|
NM_001384140.1(PCDH15):c.1928G>A (p.Arg643Gln)
|
|
|
NM_001384140.1(PCDH15):c.192G>A (p.Gly64=)
|
|
|
NM_001384140.1(PCDH15):c.1931A>C (p.Glu644Ala)
|
rs2094574219
|
|
NM_001384140.1(PCDH15):c.1938C>T (p.Asp646=)
|
|
|
NM_001384140.1(PCDH15):c.1950T>C (p.Tyr650=)
|
|
|
NM_001384140.1(PCDH15):c.1953C>T (p.Ala651=)
|
rs2136049828
|
|
NM_001384140.1(PCDH15):c.1957_1960del (p.Glu653fs)
|
|
|
NM_001384140.1(PCDH15):c.1958A>G (p.Glu653Gly)
|
|
|
NM_001384140.1(PCDH15):c.195T>A (p.Thr65=)
|
rs770371293
|
|
NM_001384140.1(PCDH15):c.1968T>C (p.Asp656=)
|
|
|
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
|
rs2136049616
|
|
NM_001384140.1(PCDH15):c.1987C>T (p.Leu663Phe)
|
rs758868732
|
|
NM_001384140.1(PCDH15):c.1997+12del
|
|
|
NM_001384140.1(PCDH15):c.1997+14G>T
|
|
|
NM_001384140.1(PCDH15):c.1997+17T>C
|
|
|
NM_001384140.1(PCDH15):c.1997+27dup
|
rs552244748
|
|
NM_001384140.1(PCDH15):c.1998-13G>C
|
|
|
NM_001384140.1(PCDH15):c.1998-13G>T
|
|
|
NM_001384140.1(PCDH15):c.1998-15T>C
|
|
|
NM_001384140.1(PCDH15):c.1998-1G>A
|
|
|
NM_001384140.1(PCDH15):c.1998-21GTTT[2]
|
rs763135922
|
|
NM_001384140.1(PCDH15):c.1998-21GTTT[4]
|
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.1998-4del
|
|
|
NM_001384140.1(PCDH15):c.1998-5A>G
|
|
|
NM_001384140.1(PCDH15):c.1998-5A>T
|
rs2094400725
|
|
NM_001384140.1(PCDH15):c.1998-8G>T
|
rs2135948339
|
|
NM_001384140.1(PCDH15):c.1999A>G (p.Thr667Ala)
|
|
|
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625
|
|
NM_001384140.1(PCDH15):c.2001G>A (p.Thr667=)
|
rs200699443
|
|
NM_001384140.1(PCDH15):c.2002G>A (p.Gly668Arg)
|
rs1051206153
|
|
NM_001384140.1(PCDH15):c.2004G>A (p.Gly668=)
|
rs759092602
|
|
NM_001384140.1(PCDH15):c.2007T>C (p.Ile669=)
|
|
|
NM_001384140.1(PCDH15):c.2025A>T (p.Ala675=)
|
|
|
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2031C>T (p.Asp677=)
|
|
|
NM_001384140.1(PCDH15):c.2031del (p.Asp677fs)
|
|
|
NM_001384140.1(PCDH15):c.2032A>C (p.Arg678=)
|
rs962705628
|
|
NM_001384140.1(PCDH15):c.2034G>A (p.Arg678=)
|
rs2135947809
|
|
NM_001384140.1(PCDH15):c.2036A>G (p.Glu679Gly)
|
|
|
NM_001384140.1(PCDH15):c.2039G>A (p.Ser680Asn)
|
rs762818138
|
|
NM_001384140.1(PCDH15):c.2043T>C (p.Thr681=)
|
|
|
NM_001384140.1(PCDH15):c.2046T>C (p.Asp682=)
|
rs769742711
|
|
NM_001384140.1(PCDH15):c.2058G>A (p.Leu686=)
|
rs1443886675
|
|
NM_001384140.1(PCDH15):c.2058G>C (p.Leu686=)
|
|
|
NM_001384140.1(PCDH15):c.2058G>T (p.Leu686=)
|
|
|
NM_001384140.1(PCDH15):c.2059A>C (p.Ile687Leu)
|
rs773061675
|
|
NM_001384140.1(PCDH15):c.2064C>A (p.Ile688=)
|
|
|
NM_001384140.1(PCDH15):c.2064C>T (p.Ile688=)
|
rs1376089788
|
|
NM_001384140.1(PCDH15):c.2069C>T (p.Ala690Val)
|
|
|
NM_001384140.1(PCDH15):c.2082G>C (p.Arg694Ser)
|
|
|
NM_001384140.1(PCDH15):c.2088T>C (p.Asp696=)
|
|
|
NM_001384140.1(PCDH15):c.2088_2089insA (p.Gly697fs)
|
rs2135947078
|
|
NM_001384140.1(PCDH15):c.2091+14C>T
|
|
|
NM_001384140.1(PCDH15):c.2091+1G>A
|
rs2135947041
|
|
NM_001384140.1(PCDH15):c.2091+7A>C
|
|
|
NM_001384140.1(PCDH15):c.2091+7A>G
|
rs2094398205
|
|
NM_001384140.1(PCDH15):c.2092-12T>G
|
|
|
NM_001384140.1(PCDH15):c.2092-15G>A
|
|
|
NM_001384140.1(PCDH15):c.2092-482_2092del
|
|
|
NM_001384140.1(PCDH15):c.2092-7C>T
|
rs748605459
|
|
NM_001384140.1(PCDH15):c.2092-8del
|
|
|
NM_001384140.1(PCDH15):c.2100T>C (p.Thr700=)
|
|
|
NM_001384140.1(PCDH15):c.2102C>A (p.Ala701Asp)
|
rs199537178
|
|
NM_001384140.1(PCDH15):c.2106A>G (p.Thr702=)
|
|
|
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
|
|
|
NM_001384140.1(PCDH15):c.2117T>C (p.Val706Ala)
|
|
|
NM_001384140.1(PCDH15):c.2119G>A (p.Val707Met)
|
|
|
NM_001384140.1(PCDH15):c.2120T>G (p.Val707Gly)
|
rs942872443
|
|
NM_001384140.1(PCDH15):c.2124A>G (p.Thr708=)
|
rs2135811171
|
|
NM_001384140.1(PCDH15):c.2127T>A (p.Asp709Glu)
|
rs996460868
|
|
NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile)
|
rs1471005419
|
|
NM_001384140.1(PCDH15):c.2130C>T (p.Val710=)
|
|
|
NM_001384140.1(PCDH15):c.2132A>G (p.Asn711Ser)
|
|
|
NM_001384140.1(PCDH15):c.2133T>C (p.Asn711=)
|
rs2094144870
|
|
NM_001384140.1(PCDH15):c.2135A>T (p.Asp712Val)
|
|
|
NM_001384140.1(PCDH15):c.2142T>C (p.Ala714=)
|
|
|
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
|
|
|
NM_001384140.1(PCDH15):c.2156del (p.Pro719fs)
|
rs2135810742
|
|
NM_001384140.1(PCDH15):c.2160T>A (p.Tyr720Ter)
|
|
|
NM_001384140.1(PCDH15):c.2161C>G (p.Leu721Val)
|
rs794727217
|
|
NM_001384140.1(PCDH15):c.2163G>C (p.Leu721=)
|
|
|
NM_001384140.1(PCDH15):c.2168G>T (p.Arg723Ile)
|
rs1428697668
|
|
NM_001384140.1(PCDH15):c.216C>T (p.Thr72=)
|
rs2135025544
|
|
NM_001384140.1(PCDH15):c.2178T>G (p.Ser726=)
|
rs899787874
|
|
NM_001384140.1(PCDH15):c.2179G>C (p.Val727Leu)
|
rs2094144298
|
|
NM_001384140.1(PCDH15):c.2184G>T (p.Val728=)
|
|
|
NM_001384140.1(PCDH15):c.2187A>G (p.Glu729=)
|
|
|
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)
|
rs2094144044
|
|
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala)
|
rs749438162
|
|
NM_001384140.1(PCDH15):c.2199T>C (p.Asn733=)
|
rs2135810339
|
|
NM_001384140.1(PCDH15):c.2201C>T (p.Ala734Val)
|
|
|
NM_001384140.1(PCDH15):c.2208G>A (p.Val736=)
|
rs1590210875
|
|
NM_001384140.1(PCDH15):c.2210G>C (p.Gly737Ala)
|
rs902984656
|
|
NM_001384140.1(PCDH15):c.2212C>T (p.Gln738Ter)
|
rs2135810142
|
|
NM_001384140.1(PCDH15):c.2215G>C (p.Val739Leu)
|
|
|
NM_001384140.1(PCDH15):c.2217A>G (p.Val739=)
|
|
|
NM_001384140.1(PCDH15):c.2220+10A>G
|
rs2135809881
|
|
NM_001384140.1(PCDH15):c.2220+16A>G
|
|
|
NM_001384140.1(PCDH15):c.2220+18A>G
|
|
|
NM_001384140.1(PCDH15):c.2220+19T>C
|
|
|
NM_001384140.1(PCDH15):c.2220+1G>A
|
rs2094143468
|
|
NM_001384140.1(PCDH15):c.2220+8G>T
|
|
|
NM_001384140.1(PCDH15):c.2220+9A>G
|
rs886047065
|
|
NM_001384140.1(PCDH15):c.2221-15dup
|
rs748865551
|
|
NM_001384140.1(PCDH15):c.2221-16T>A
|
|
|
NM_001384140.1(PCDH15):c.2221-16T>C
|
|
|
NM_001384140.1(PCDH15):c.2221-17_2221-10del
|
rs779527281
|
|
NM_001384140.1(PCDH15):c.2221-34G>A
|
rs57385317
|
|
NM_001384140.1(PCDH15):c.2221-5A>G
|
|
|
NM_001384140.1(PCDH15):c.2223A>T (p.Ala741=)
|
rs201332784
|
|
NM_001384140.1(PCDH15):c.2226A>G (p.Thr742=)
|
|
|
NM_001384140.1(PCDH15):c.2232T>C (p.Pro744=)
|
|
|
NM_001384140.1(PCDH15):c.2232T>G (p.Pro744=)
|
|
|
NM_001384140.1(PCDH15):c.2240G>T (p.Gly747Val)
|
rs765302336
|
|
NM_001384140.1(PCDH15):c.2256G>A (p.Val752=)
|
|
|
NM_001384140.1(PCDH15):c.2259C>G (p.His753Gln)
|
rs1022094120
|
|
NM_001384140.1(PCDH15):c.2264G>T (p.Ser755Ile)
|
rs2135323496
|
|
NM_001384140.1(PCDH15):c.2267del (p.Leu756fs)
|
rs2135323462
|
|
NM_001384140.1(PCDH15):c.2271T>G (p.Gly757=)
|
rs2135323353
|
|
NM_001384140.1(PCDH15):c.2273A>T (p.Asn758Ile)
|
|
|
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=)
|
rs1565043296
|
|
NM_001384140.1(PCDH15):c.2278A>G (p.Asn760Asp)
|
|
|
NM_001384140.1(PCDH15):c.2286T>C (p.Leu762=)
|
rs1589966810
|
|
NM_001384140.1(PCDH15):c.2291G>A (p.Arg764His)
|
|
|
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu)
|
rs375282189
|
|
NM_001384140.1(PCDH15):c.2298A>G (p.Thr766=)
|
|
|
NM_001384140.1(PCDH15):c.2307G>A (p.Gly769=)
|
|
|
NM_001384140.1(PCDH15):c.2319A>T (p.Thr773=)
|
|
|
NM_001384140.1(PCDH15):c.2321del (p.Ala774fs)
|
rs2135322427
|
|
NM_001384140.1(PCDH15):c.2328G>A (p.Lys776=)
|
|
|
NM_001384140.1(PCDH15):c.2334C>T (p.Asn778=)
|
|
|
NM_001384140.1(PCDH15):c.2346G>A (p.Arg782=)
|
rs2135322188
|
|
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)
|
rs2135322143
|
|
NM_001384140.1(PCDH15):c.2361T>C (p.Leu787=)
|
rs2135321928
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2365G>C (p.Val789Leu)
|
rs1199463939
|
|
NM_001384140.1(PCDH15):c.2376A>G (p.Thr792=)
|
rs2135321649
|
|
NM_001384140.1(PCDH15):c.2382A>G (p.Gly794=)
|
rs1279344505
|
|
NM_001384140.1(PCDH15):c.2394T>C (p.Pro798=)
|
|
|
NM_001384140.1(PCDH15):c.2397T>G (p.Arg799=)
|
|
|
NM_001384140.1(PCDH15):c.239A>G (p.Asn80Ser)
|
|
|
NM_001384140.1(PCDH15):c.2403A>G (p.Ser801=)
|
|
|
NM_001384140.1(PCDH15):c.2404A>G (p.Thr802Ala)
|
rs371497605
|
|
NM_001384140.1(PCDH15):c.240T>C (p.Asn80=)
|
|
|
NM_001384140.1(PCDH15):c.2413T>G (p.Leu805Val)
|
|
|
NM_001384140.1(PCDH15):c.2421C>A (p.Ile807=)
|
|
|
NM_001384140.1(PCDH15):c.2427T>C (p.Val809=)
|
|
|
NM_001384140.1(PCDH15):c.2450C>G (p.Pro817Arg)
|
|
|
NM_001384140.1(PCDH15):c.2451T>C (p.Pro817=)
|
|
|
NM_001384140.1(PCDH15):c.2451_2452delinsAA (p.Val818Met)
|
|
|
NM_001384140.1(PCDH15):c.2457C>T (p.Phe819=)
|
rs2135320091
|
|
NM_001384140.1(PCDH15):c.2458A>G (p.Thr820Ala)
|
|
|
NM_001384140.1(PCDH15):c.2460C>T (p.Thr820=)
|
rs2135320051
|
|
NM_001384140.1(PCDH15):c.2468C>T (p.Thr823Ile)
|
|
|
NM_001384140.1(PCDH15):c.2477dup (p.Leu827fs)
|
|
|
NM_001384140.1(PCDH15):c.2491A>T (p.Asn831Tyr)
|
rs2135319664
|
|
NM_001384140.1(PCDH15):c.2496G>A (p.Leu832=)
|
rs2135319547
|
|
NM_001384140.1(PCDH15):c.2502T>G (p.Ala834=)
|
|
|
NM_001384140.1(PCDH15):c.2507C>G (p.Thr836Ser)
|
|
|
NM_001384140.1(PCDH15):c.2511C>T (p.Thr837=)
|
|
|
NM_001384140.1(PCDH15):c.2514C>T (p.Ile838=)
|
rs779672469
|
|
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
|
|
|
NM_001384140.1(PCDH15):c.2522T>C (p.Ile841Thr)
|
rs567811243
|
|
NM_001384140.1(PCDH15):c.2526+10A>G
|
|
|
NM_001384140.1(PCDH15):c.2526+15G>A
|
|
|
NM_001384140.1(PCDH15):c.2526+17A>G
|
|
|
NM_001384140.1(PCDH15):c.2526+20T>A
|
|
|
NM_001384140.1(PCDH15):c.2526+2T>C
|
rs2135319137
|
|
NM_001384140.1(PCDH15):c.2526+9G>C
|
|
|
NM_001384140.1(PCDH15):c.2526+9del
|
rs2135319060
|
|
NM_001384140.1(PCDH15):c.2526+9dup
|
|
|
NM_001384140.1(PCDH15):c.2527-13C>T
|
|
|
NM_001384140.1(PCDH15):c.2527-14_2527-12del
|
|
|
NM_001384140.1(PCDH15):c.2527-16C>G
|
|
|
NM_001384140.1(PCDH15):c.2527-19A>G
|
|
|
NM_001384140.1(PCDH15):c.2527-20T>C
|
|
|
NM_001384140.1(PCDH15):c.2527-260CT[9]
|
rs57852524
|
|
NM_001384140.1(PCDH15):c.2527-4A>G
|
rs778122810
|
|
NM_001384140.1(PCDH15):c.2527-7A>G
|
rs368267236
|
|
NM_001384140.1(PCDH15):c.2529C>A (p.Ala843=)
|
rs2135285044
|
|
NM_001384140.1(PCDH15):c.2532A>G (p.Lys844=)
|
|
|
NM_001384140.1(PCDH15):c.2540A>G (p.Asp847Gly)
|
rs2092879666
|
|
NM_001384140.1(PCDH15):c.2544T>C (p.Leu848=)
|
rs780674525
|
|
NM_001384140.1(PCDH15):c.2547A>G (p.Gly849=)
|
|
|
NM_001384140.1(PCDH15):c.2550A>G (p.Ala850=)
|
rs140893140
|
|
NM_001384140.1(PCDH15):c.2550A>T (p.Ala850=)
|
rs140893140
|
|
NM_001384140.1(PCDH15):c.2552del (p.Asn851fs)
|
|
|
NM_001384140.1(PCDH15):c.2556G>A (p.Val852=)
|
|
|
NM_001384140.1(PCDH15):c.2562C>T (p.Tyr854=)
|
rs1416481722
|
|
NM_001384140.1(PCDH15):c.2568A>T (p.Ile856=)
|
rs760300692
|
|
NM_001384140.1(PCDH15):c.2572del (p.Ser858fs)
|
rs2092878502
|
|
NM_001384140.1(PCDH15):c.2580A>T (p.Glu860Asp)
|
|
|
NM_001384140.1(PCDH15):c.258G>A (p.Leu86=)
|
rs2135024351
|
|
NM_001384140.1(PCDH15):c.2595dup (p.Ala866fs)
|
|
|
NM_001384140.1(PCDH15):c.2604T>A (p.His868Gln)
|
|
|
NM_001384140.1(PCDH15):c.2607A>G (p.Pro869=)
|
rs2135283912
|
|
NM_001384140.1(PCDH15):c.2615G>A (p.Gly872Glu)
|
rs2135283773
|
|
NM_001384140.1(PCDH15):c.2617G>A (p.Glu873Lys)
|
|
|
NM_001384140.1(PCDH15):c.2617G>T (p.Glu873Ter)
|
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
|
|
|
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter)
|
rs2092876200
|
|
NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn)
|
rs2092876050
|
|
NM_001384140.1(PCDH15):c.2638T>C (p.Leu880=)
|
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_001384140.1(PCDH15):c.2647G>A (p.Glu883Lys)
|
rs2135283245
|
|
NM_001384140.1(PCDH15):c.2648A>C (p.Glu883Ala)
|
|
|
NM_001384140.1(PCDH15):c.264T>G (p.Asp88Glu)
|
rs2135024168
|
|
NM_001384140.1(PCDH15):c.2651del (p.Ala884fs)
|
rs2135283149
|
|
NM_001384140.1(PCDH15):c.2664A>G (p.Gln888=)
|
rs2135282954
|
|
NM_001384140.1(PCDH15):c.2668G>A (p.Ala890Thr)
|
|
|
NM_001384140.1(PCDH15):c.2685G>A (p.Leu895=)
|
|
|
NM_001384140.1(PCDH15):c.2685G>T (p.Leu895=)
|
rs759471464
|
|
NM_001384140.1(PCDH15):c.2687dup (p.Glu897fs)
|
|
|
NM_001384140.1(PCDH15):c.268G>A (p.Val90Ile)
|
|
|
NM_001384140.1(PCDH15):c.2694C>A (p.Ala898=)
|
|
|
NM_001384140.1(PCDH15):c.2700T>C (p.Asp900=)
|
rs1589949635
|
|
NM_001384140.1(PCDH15):c.2706T>C (p.Tyr902=)
|
rs1165535726
|
|
NM_001384140.1(PCDH15):c.2712A>G (p.Thr904=)
|
|
|
NM_001384140.1(PCDH15):c.2714T>G (p.Met905Arg)
|
|
|
NM_001384140.1(PCDH15):c.2721T>G (p.Pro907=)
|
rs727504835
|
|
NM_001384140.1(PCDH15):c.2723G>C (p.Gly908Ala)
|
|
|
NM_001384140.1(PCDH15):c.2728G>A (p.Ala910Thr)
|
rs139175351
|
|
NM_001384140.1(PCDH15):c.2741T>C (p.Val914Ala)
|
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
NM_001384140.1(PCDH15):c.2751+10A>G
|
rs2135281452
|
|
NM_001384140.1(PCDH15):c.2751+11G>A
|
rs766479980
|
|
NM_001384140.1(PCDH15):c.2751+13G>T
|
|
|
NM_001384140.1(PCDH15):c.2751+18C>T
|
|
|
NM_001384140.1(PCDH15):c.2751+314G>C
|
rs143802444
|
|
NM_001384140.1(PCDH15):c.2751+8C>T
|
rs1360011079
|
|
NM_001384140.1(PCDH15):c.2751+9dup
|
rs2135281499
|
|
NM_001384140.1(PCDH15):c.2752-13T>A
|
|
|
NM_001384140.1(PCDH15):c.2752-13T>C
|
|
|
NM_001384140.1(PCDH15):c.2752-15A>G
|
|
|
NM_001384140.1(PCDH15):c.2752-20C>T
|
|
|
NM_001384140.1(PCDH15):c.2752-230C>A
|
rs140975710
|
|
NM_001384140.1(PCDH15):c.2752-300C>A
|
rs150173483
|
|
NM_001384140.1(PCDH15):c.2752-6T>C
|
|
|
NM_001384140.1(PCDH15):c.2752-8T>C
|
rs1589822605
|
|
NM_001384140.1(PCDH15):c.2754T>C (p.Asp918=)
|
rs2134904496
|
|
NM_001384140.1(PCDH15):c.2760T>C (p.Asn920=)
|
|
|
NM_001384140.1(PCDH15):c.2764T>A (p.Tyr922Asn)
|
rs2091808213
|
|
NM_001384140.1(PCDH15):c.2768C>A (p.Pro923His)
|
rs191577774
|
|
NM_001384140.1(PCDH15):c.2769T>A (p.Pro923=)
|
rs727503366
|
|
NM_001384140.1(PCDH15):c.2769T>C (p.Pro923=)
|
rs727503366
|
|
NM_001384140.1(PCDH15):c.2781T>C (p.Ser927=)
|
|
|
NM_001384140.1(PCDH15):c.2786_2787delinsAC (p.Arg929His)
|
rs2134903782
|
|
NM_001384140.1(PCDH15):c.2786_2787delinsAG (p.Arg929Gln)
|
|
|
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter)
|
rs2091805733
|
|
NM_001384140.1(PCDH15):c.2793C>T (p.Tyr931=)
|
|
|
NM_001384140.1(PCDH15):c.2798G>A (p.Gly933Glu)
|
rs372984970
|
|
NM_001384140.1(PCDH15):c.2799G>A (p.Gly933=)
|
|
|
NM_001384140.1(PCDH15):c.2805G>T (p.Val935=)
|
rs1406455824
|
|
NM_001384140.1(PCDH15):c.2809C>G (p.Pro937Ala)
|
|
|
NM_001384140.1(PCDH15):c.280C>T (p.Leu94Phe)
|
|
|
NM_001384140.1(PCDH15):c.2814T>C (p.Asp938=)
|
|
|
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
|
|
|
NM_001384140.1(PCDH15):c.2823G>A (p.Lys941=)
|
rs773599066
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2826T>C (p.Gly942=)
|
rs2134902262
|
|
NM_001384140.1(PCDH15):c.2829A>T (p.Thr943=)
|
|
|
NM_001384140.1(PCDH15):c.282T>G (p.Leu94=)
|
rs1948817425
|
|
NM_001384140.1(PCDH15):c.2838A>G (p.Thr946=)
|
rs2091800436
|
|
NM_001384140.1(PCDH15):c.2844T>A (p.Val948=)
|
rs2134901749
|
|
NM_001384140.1(PCDH15):c.2847T>C (p.Tyr949=)
|
rs2134901643
|
|
NM_001384140.1(PCDH15):c.284T>A (p.Phe95Tyr)
|
rs1190395687
|
|
NM_001384140.1(PCDH15):c.284T>C (p.Phe95Ser)
|
|
|
NM_001384140.1(PCDH15):c.2850T>C (p.Ala950=)
|
rs2134901606
|
|
NM_001384140.1(PCDH15):c.2859A>C (p.Ala953=)
|
rs375965861
|
|
NM_001384140.1(PCDH15):c.2859A>T (p.Ala953=)
|
rs375965861
|
|
NM_001384140.1(PCDH15):c.2868+10A>C
|
rs1589821675
|
|
NM_001384140.1(PCDH15):c.2868+17_2868+20del
|
|
|
NM_001384140.1(PCDH15):c.2868+1G>A
|
rs1589821731
|
|
NM_001384140.1(PCDH15):c.2868+2T>A
|
|
|
NM_001384140.1(PCDH15):c.2868+2T>C
|
rs2091798175
|
|
NM_001384140.1(PCDH15):c.2868+4A>T
|
rs2091797981
|
|
NM_001384140.1(PCDH15):c.2868+5G>A
|
rs757993503
|
|
NM_001384140.1(PCDH15):c.2868+5del
|
rs2134900862
|
|
NM_001384140.1(PCDH15):c.2868+6T>C
|
rs2091797634
|
|
NM_001384140.1(PCDH15):c.2868+8G>T
|
rs1283676141
|
|
NM_001384140.1(PCDH15):c.2869-13A>C
|
|
|
NM_001384140.1(PCDH15):c.2869-13A>G
|
|
|
NM_001384140.1(PCDH15):c.2869-13_2869-11del
|
rs879272050
|
|
NM_001384140.1(PCDH15):c.2869-17T>G
|
|
|
NM_001384140.1(PCDH15):c.2869-19A>G
|
rs2134303197
|
|
NM_001384140.1(PCDH15):c.2869-1G>A
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2869-5T>C
|
|
|
NM_001384140.1(PCDH15):c.2869-6_2869-2del
|
rs752879165
|
|
NM_001384140.1(PCDH15):c.2869G>A (p.Gly957Arg)
|
|
|
NM_001384140.1(PCDH15):c.2875C>T (p.Pro959Ser)
|
|
|
NM_001384140.1(PCDH15):c.2877T>G (p.Pro959=)
|
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.2889G>A (p.Val963=)
|
|
|
NM_001384140.1(PCDH15):c.2892G>A (p.Arg964=)
|
rs2134302594
|
|
NM_001384140.1(PCDH15):c.2895T>A (p.Tyr965Ter)
|
|
|
NM_001384140.1(PCDH15):c.2896A>C (p.Arg966=)
|
rs2134302540
|
|
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr)
|
rs568865061
|
|
NM_001384140.1(PCDH15):c.2903A>G (p.Asp968Gly)
|
|
|
NM_001384140.1(PCDH15):c.2904T>A (p.Asp968Glu)
|
rs2134302359
|
|
NM_001384140.1(PCDH15):c.2904T>C (p.Asp968=)
|
|
|
NM_001384140.1(PCDH15):c.2910A>G (p.Val970=)
|
|
|
NM_001384140.1(PCDH15):c.2913G>A (p.Gln971=)
|
|
|
NM_001384140.1(PCDH15):c.2918C>T (p.Pro973Leu)
|
|
|
NM_001384140.1(PCDH15):c.2919T>C (p.Pro973=)
|
rs1225231777
|
|
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)
|
rs2134302083
|
|
NM_001384140.1(PCDH15):c.291C>T (p.Asn97=)
|
|
|
NM_001384140.1(PCDH15):c.2922C>T (p.Tyr974=)
|
rs2088359285
|
|
NM_001384140.1(PCDH15):c.2924del (p.Pro975fs)
|
|
|
NM_001384140.1(PCDH15):c.2927C>A (p.Ala976Asp)
|
|
|
NM_001384140.1(PCDH15):c.2930G>A (p.Ser977Asn)
|
|
|
NM_001384140.1(PCDH15):c.2934T>C (p.Ile978=)
|
rs2134301828
|
|
NM_001384140.1(PCDH15):c.2943G>A (p.Val981=)
|
|
|
NM_001384140.1(PCDH15):c.2961A>G (p.Arg987=)
|
rs1564869395
|
|
NM_001384140.1(PCDH15):c.2969C>A (p.Thr990Lys)
|
rs2134301436
|
|
NM_001384140.1(PCDH15):c.2972G>A (p.Arg991Gln)
|
|
|
NM_001384140.1(PCDH15):c.297C>A (p.Thr99=)
|
|
|
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=)
|
rs762026724
|
|
NM_001384140.1(PCDH15):c.297C>T (p.Thr99=)
|
rs762026724
|
|
NM_001384140.1(PCDH15):c.2985T>C (p.Asn995=)
|
|
|
NM_001384140.1(PCDH15):c.2997A>G (p.Thr999=)
|
rs956006330
|
|
NM_001384140.1(PCDH15):c.29G>A (p.Cys10Tyr)
|
|
|
NM_001384140.1(PCDH15):c.3009+13T>C
|
|
|
NM_001384140.1(PCDH15):c.3009+16C>T
|
|
|
NM_001384140.1(PCDH15):c.3009+19T>A
|
|
|
NM_001384140.1(PCDH15):c.3009+19T>C
|
|
|
NM_001384140.1(PCDH15):c.3009+20A>G
|
|
|
NM_001384140.1(PCDH15):c.300A>C (p.Gly100=)
|
rs2135023055
|
|
NM_001384140.1(PCDH15):c.3010-14del
|
|
|
NM_001384140.1(PCDH15):c.3010-15T>C
|
|
|
NM_001384140.1(PCDH15):c.3010-16T>A
|
rs749543947
|
|
NM_001384140.1(PCDH15):c.3010-1G>C
|
rs2134277047
|
|
NM_001384140.1(PCDH15):c.3010-8T>G
|
|
|
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=)
|
rs2088092428
|
|
NM_001384140.1(PCDH15):c.3012G>C (p.Leu1004Phe)
|
|
|
NM_001384140.1(PCDH15):c.3018G>C (p.Val1006=)
|
|
|
NM_001384140.1(PCDH15):c.301A>G (p.Arg101Gly)
|
|
|
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)
|
rs776416750
|
|
NM_001384140.1(PCDH15):c.3029A>T (p.Asp1010Val)
|
|
|
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
|
|
|
NM_001384140.1(PCDH15):c.303A>G (p.Arg101=)
|
|
|
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)
|
rs1554882652
|
|
NM_001384140.1(PCDH15):c.3042T>A (p.Pro1014=)
|
rs775306686
|
|
NM_001384140.1(PCDH15):c.3045G>A (p.Val1015=)
|
rs981351289
|
|
NM_001384140.1(PCDH15):c.3048G>A (p.Met1016Ile)
|
rs2088086111
|
|
NM_001384140.1(PCDH15):c.3060C>T (p.Ala1020=)
|
|
|
NM_001384140.1(PCDH15):c.3061A>G (p.Thr1021Ala)
|
|
|
NM_001384140.1(PCDH15):c.3069G>C (p.Lys1023Asn)
|
|
|
NM_001384140.1(PCDH15):c.3074T>C (p.Leu1025Pro)
|
rs2088082400
|
|
NM_001384140.1(PCDH15):c.3075T>C (p.Leu1025=)
|
|
|
NM_001384140.1(PCDH15):c.3082del (p.His1028fs)
|
rs1057517325
|
|
NM_001384140.1(PCDH15):c.3084T>C (p.His1028=)
|
rs755468729
|
|
NM_001384140.1(PCDH15):c.3085C>A (p.Pro1029Thr)
|
|
|
NM_001384140.1(PCDH15):c.3087T>C (p.Pro1029=)
|
rs1264180698
|
|
NM_001384140.1(PCDH15):c.308T>C (p.Leu103Pro)
|
|
|
NM_001384140.1(PCDH15):c.3096C>A (p.Ile1032=)
|
rs370200250
|
|
NM_001384140.1(PCDH15):c.3099A>G (p.Pro1033=)
|
|
|
NM_001384140.1(PCDH15):c.30T>C (p.Cys10=)
|
rs1276889888
|
|
NM_001384140.1(PCDH15):c.3101G>T (p.Arg1034Leu)
|
rs907693214
|
|
NM_001384140.1(PCDH15):c.3102C>T (p.Arg1034=)
|
|
|
NM_001384140.1(PCDH15):c.3111G>A (p.Gln1037=)
|
rs2134275750
|
|
NM_001384140.1(PCDH15):c.3117A>G (p.Glu1039=)
|
rs1305021887
|
|
NM_001384140.1(PCDH15):c.3119A>G (p.Tyr1040Cys)
|
rs2088073753
|
|
NM_001384140.1(PCDH15):c.3120T>G (p.Tyr1040Ter)
|
|
|
NM_001384140.1(PCDH15):c.3122+11C>A
|
|
|
NM_001384140.1(PCDH15):c.3122+11C>T
|
|
|
NM_001384140.1(PCDH15):c.3122+13G>T
|
|
|
NM_001384140.1(PCDH15):c.3122+16C>G
|
|
|
NM_001384140.1(PCDH15):c.3122+16C>T
|
|
|
NM_001384140.1(PCDH15):c.3122+1G>A
|
rs982893820
|
|
NM_001384140.1(PCDH15):c.3122+2T>A
|
rs1554882546
|
|
NM_001384140.1(PCDH15):c.3122+7A>T
|
|
|
NM_001384140.1(PCDH15):c.3123-12C>T
|
|
|
NM_001384140.1(PCDH15):c.3123-16T>A
|
rs992186847
|
|
NM_001384140.1(PCDH15):c.3123-4G>A
|
|
|
NM_001384140.1(PCDH15):c.3123-4G>T
|
|
|
NM_001384140.1(PCDH15):c.3123-5T>C
|
rs1193370256
|
|
NM_001384140.1(PCDH15):c.3123-5T>G
|
|
|
NM_001384140.1(PCDH15):c.3124C>A (p.Pro1042Thr)
|
|
|
NM_001384140.1(PCDH15):c.3129T>A (p.Pro1043=)
|
rs1203400741
|
|
NM_001384140.1(PCDH15):c.3134T>C (p.Val1045Ala)
|
rs2134074019
|
|
NM_001384140.1(PCDH15):c.3135A>G (p.Val1045=)
|
|
|
NM_001384140.1(PCDH15):c.3147C>G (p.Ala1049=)
|
rs1589531636
|
|
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg)
|
rs2086006894
|
|
NM_001384140.1(PCDH15):c.3156G>A (p.Gly1052=)
|
rs144492858
|
|
NM_001384140.1(PCDH15):c.3159C>G (p.Thr1053=)
|
rs2134073774
|
|
NM_001384140.1(PCDH15):c.3161T>C (p.Met1054Thr)
|
rs2134073743
|
|
NM_001384140.1(PCDH15):c.3162G>A (p.Met1054Ile)
|
|
|
NM_001384140.1(PCDH15):c.3167del (p.Gly1056fs)
|
|
|
NM_001384140.1(PCDH15):c.3168T>C (p.Gly1056=)
|
|
|
NM_001384140.1(PCDH15):c.318+10T>C
|
rs916367579
|
|
NM_001384140.1(PCDH15):c.318+16del
|
|
|
NM_001384140.1(PCDH15):c.318+17del
|
|
|
NM_001384140.1(PCDH15):c.318+1G>A
|
|
|
NM_001384140.1(PCDH15):c.318+4A>C
|
rs2135022182
|
|
NM_001384140.1(PCDH15):c.318+7G>A
|
rs2135022078
|
|
NM_001384140.1(PCDH15):c.318+8A>G
|
rs1322735430
|
|
NM_001384140.1(PCDH15):c.318+9T>C
|
rs1263619734
|
|
NM_001384140.1(PCDH15):c.318+9dup
|
rs759464317
|
|
NM_001384140.1(PCDH15):c.3186C>T (p.Ala1062=)
|
rs2134073455
|
|
NM_001384140.1(PCDH15):c.319-10T>C
|
|
|
NM_001384140.1(PCDH15):c.319-11C>T
|
rs1339321225
|
|
NM_001384140.1(PCDH15):c.319-15A>C
|
|
|
NM_001384140.1(PCDH15):c.319-15A>G
|
rs1313132799
|
|
NM_001384140.1(PCDH15):c.319-16A>G
|
|
|
NM_001384140.1(PCDH15):c.319-18G>C
|
rs761263266
|
|
NM_001384140.1(PCDH15):c.319-20A>T
|
|
|
NM_001384140.1(PCDH15):c.319-4G>T
|
|
|
NM_001384140.1(PCDH15):c.319-5T>G
|
rs551311438
|
|
NM_001384140.1(PCDH15):c.319-7A>G
|
|
|
NM_001384140.1(PCDH15):c.319-7A>T
|
rs2134719008
|
|
NM_001384140.1(PCDH15):c.3196A>C (p.Ser1066Arg)
|
|
|
NM_001384140.1(PCDH15):c.3207C>A (p.Tyr1069Ter)
|
|
|
NM_001384140.1(PCDH15):c.3207C>T (p.Tyr1069=)
|
rs2086001179
|
|
NM_001384140.1(PCDH15):c.3210C>A (p.Ser1070=)
|
|
|
NM_001384140.1(PCDH15):c.3219A>T (p.Ser1073=)
|
|
|
NM_001384140.1(PCDH15):c.321A>C (p.Pro107=)
|
rs1345969752
|
|
NM_001384140.1(PCDH15):c.3221_3222del (p.Gly1074fs)
|
|
|
NM_001384140.1(PCDH15):c.3232+10C>T
|
rs1589530920
|
|
NM_001384140.1(PCDH15):c.3232+13_3232+14del
|
|
|
NM_001384140.1(PCDH15):c.3232+18T>C
|
|
|
NM_001384140.1(PCDH15):c.3232+1G>A
|
|
|
NM_001384140.1(PCDH15):c.3232+8G>A
|
|
|
NM_001384140.1(PCDH15):c.3233-11T>G
|
|
|
NM_001384140.1(PCDH15):c.3233-13T>C
|
|
|
NM_001384140.1(PCDH15):c.3233-13T>G
|
|
|
NM_001384140.1(PCDH15):c.3233-147del
|
rs142204594
|
|
NM_001384140.1(PCDH15):c.3233-14A>G
|
rs2134054895
|
|
NM_001384140.1(PCDH15):c.3233-16G>A
|
|
|
NM_001384140.1(PCDH15):c.3233-18T>C
|
|
|
NM_001384140.1(PCDH15):c.3233-2A>G
|
rs1554872194
|
|
NM_001384140.1(PCDH15):c.3233-4C>A
|
rs368331130
|
|
NM_001384140.1(PCDH15):c.3233-7T>C
|
|
|
NM_001384140.1(PCDH15):c.3234T>C (p.Asp1078=)
|
|
|
NM_001384140.1(PCDH15):c.323C>T (p.Pro108Leu)
|
rs1161238143
|
|
NM_001384140.1(PCDH15):c.324G>C (p.Pro108=)
|
|
|
NM_001384140.1(PCDH15):c.3251del (p.Asn1084fs)
|
|
|
NM_001384140.1(PCDH15):c.3256del (p.Thr1086fs)
|
|
|
NM_001384140.1(PCDH15):c.3258A>G (p.Thr1086=)
|
|
|
NM_001384140.1(PCDH15):c.3267C>T (p.Ile1089=)
|
rs2134054501
|
|
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)
|
|
|
NM_001384140.1(PCDH15):c.3273G>T (p.Val1091=)
|
rs897069925
|
|
NM_001384140.1(PCDH15):c.3275A>G (p.Asn1092Ser)
|
rs2085810873
|
|
NM_001384140.1(PCDH15):c.3281C>T (p.Pro1094Leu)
|
|
|
NM_001384140.1(PCDH15):c.3285G>T (p.Leu1095=)
|
rs374940427
|
|
NM_001384140.1(PCDH15):c.3297C>A (p.Thr1099=)
|
rs749666237
|
|
NM_001384140.1(PCDH15):c.3306C>G (p.Ser1102Arg)
|
|
|
NM_001384140.1(PCDH15):c.3306C>T (p.Ser1102=)
|
rs1291774713
|
|
NM_001384140.1(PCDH15):c.3308A>G (p.Tyr1103Cys)
|
|
|
NM_001384140.1(PCDH15):c.3315T>C (p.Leu1105=)
|
|
|
NM_001384140.1(PCDH15):c.3316C>A (p.Arg1106=)
|
|
|
NM_001384140.1(PCDH15):c.3317G>C (p.Arg1106Pro)
|
|
|
NM_001384140.1(PCDH15):c.3317G>T (p.Arg1106Leu)
|
rs746935130
|
|
NM_001384140.1(PCDH15):c.3333C>A (p.Ser1111=)
|
rs2134053516
|
|
NM_001384140.1(PCDH15):c.3333C>G (p.Ser1111=)
|
rs2134053516
|
|
NM_001384140.1(PCDH15):c.3334C>T (p.Leu1112=)
|
|
|
NM_001384140.1(PCDH15):c.333A>C (p.Ile111=)
|
rs2134717741
|
|
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly)
|
rs563855694
|
|
NM_001384140.1(PCDH15):c.3342G>A (p.Val1114=)
|
|
|
NM_001384140.1(PCDH15):c.3350C>T (p.Ala1117Val)
|
|
|
NM_001384140.1(PCDH15):c.3358C>A (p.Arg1120=)
|
|
|
NM_001384140.1(PCDH15):c.3359G>A (p.Arg1120Gln)
|
|
|
NM_001384140.1(PCDH15):c.3364C>T (p.Pro1122Ser)
|
|
|
NM_001384140.1(PCDH15):c.3373+11C>T
|
|
|
NM_001384140.1(PCDH15):c.3373+12T>G
|
|
|
NM_001384140.1(PCDH15):c.3373+13_3373+22del
|
rs773563191
|
|
NM_001384140.1(PCDH15):c.3373+14C>A
|
|
|
NM_001384140.1(PCDH15):c.3373+14C>T
|
|
|
NM_001384140.1(PCDH15):c.3373+16T>G
|
|
|
NM_001384140.1(PCDH15):c.3373+19A>G
|
|
|
NM_001384140.1(PCDH15):c.3374-17C>T
|
|
|
NM_001384140.1(PCDH15):c.3374-18T>A
|
rs2133667965
|
|
NM_001384140.1(PCDH15):c.3374-18T>C
|
|
|
NM_001384140.1(PCDH15):c.3374-2A>G
|
|
|
NM_001384140.1(PCDH15):c.3374-4C>G
|
rs111739360
|
|
NM_001384140.1(PCDH15):c.3374-6C>T
|
rs2133667704
|
|
NM_001384140.1(PCDH15):c.3374-7C>A
|
|
|
NM_001384140.1(PCDH15):c.3374-8T>C
|
|
|
NM_001384140.1(PCDH15):c.3374-9G>C
|
rs2133667819
|
|
NM_001384140.1(PCDH15):c.3375C>T (p.Ser1125=)
|
|
|
NM_001384140.1(PCDH15):c.3392A>G (p.Tyr1131Cys)
|
|
|
NM_001384140.1(PCDH15):c.340A>G (p.Ile114Val)
|
|
|
NM_001384140.1(PCDH15):c.3411A>G (p.Glu1137=)
|
rs969425785
|
|
NM_001384140.1(PCDH15):c.3414T>C (p.Asn1138=)
|
rs2133666487
|
|
NM_001384140.1(PCDH15):c.3418C>T (p.His1140Tyr)
|
|
|
NM_001384140.1(PCDH15):c.3425dup (p.Val1143fs)
|
rs2082449528
|
|
NM_001384140.1(PCDH15):c.3441del (p.Lys1147fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3444C>A (p.Phe1148Leu)
|
|
|
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=)
|
rs146374856
|
|
NM_001384140.1(PCDH15):c.3453A>T (p.Gly1151=)
|
rs2133665596
|
|
NM_001384140.1(PCDH15):c.3456T>G (p.Gly1152=)
|
rs202091131
|
|
NM_001384140.1(PCDH15):c.3460T>C (p.Ser1154Pro)
|
|
|
NM_001384140.1(PCDH15):c.3471A>G (p.Ala1157=)
|
|
|
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3476T>C (p.Met1159Thr)
|
rs2133665045
|
|
NM_001384140.1(PCDH15):c.3483T>A (p.Thr1161=)
|
rs772300262
|
|
NM_001384140.1(PCDH15):c.3484T>G (p.Ser1162Ala)
|
rs2133664859
|
|
NM_001384140.1(PCDH15):c.3486T>C (p.Ser1162=)
|
|
|
NM_001384140.1(PCDH15):c.3486T>G (p.Ser1162=)
|
|
|
NM_001384140.1(PCDH15):c.3489A>G (p.Val1163=)
|
rs1589338030
|
|
NM_001384140.1(PCDH15):c.3494G>T (p.Arg1165Ile)
|
|
|
NM_001384140.1(PCDH15):c.3501+15G>T
|
|
|
NM_001384140.1(PCDH15):c.3501+16T>A
|
|
|
NM_001384140.1(PCDH15):c.3501+230G>C
|
rs77889682
|
|
NM_001384140.1(PCDH15):c.3501+2T>C
|
rs757418440
|
|
NM_001384140.1(PCDH15):c.3501+7G>A
|
rs756402556
|
|
NM_001384140.1(PCDH15):c.3501+8G>A
|
rs758025170
|
|
NM_001384140.1(PCDH15):c.3502-10C>A
|
|
|
NM_001384140.1(PCDH15):c.3502-10C>T
|
|
|
NM_001384140.1(PCDH15):c.3502-10del
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.3502-11C>A
|
|
|
NM_001384140.1(PCDH15):c.3502-133C>T
|
rs7904289
|
|
NM_001384140.1(PCDH15):c.3502-13dup
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.3502-14del
|
rs5785023
|
|
NM_001384140.1(PCDH15):c.3502-14dup
|
rs5785023
|
|
NM_001384140.1(PCDH15):c.3502-15_3502-14del
|
|
|
NM_001384140.1(PCDH15):c.3502-15_3502-14insC
|
|
|
NM_001384140.1(PCDH15):c.3502-17T>C
|
|
|
NM_001384140.1(PCDH15):c.3502-18T>G
|
|
|
NM_001384140.1(PCDH15):c.3502-22_3502-21dup
|
rs5785023
|
|
NM_001384140.1(PCDH15):c.3502-2A>G
|
rs1554836566
|
|
NM_001384140.1(PCDH15):c.3502-4C>T
|
rs963205208
|
|
NM_001384140.1(PCDH15):c.3502-6G>T
|
|
|
NM_001384140.1(PCDH15):c.3502-9T>A
|
|
|
NM_001384140.1(PCDH15):c.3507T>C (p.Thr1169=)
|
|
|
NM_001384140.1(PCDH15):c.3509_3520del (p.Asp1170_Thr1173del)
|
|
|
NM_001384140.1(PCDH15):c.3516T>C (p.Asp1172=)
|
|
|
NM_001384140.1(PCDH15):c.351G>A (p.Gln117=)
|
rs2134717136
|
|
NM_001384140.1(PCDH15):c.3536T>C (p.Met1179Thr)
|
rs2133159602
|
|
NM_001384140.1(PCDH15):c.3542A>G (p.Tyr1181Cys)
|
rs2079491172
|
|
NM_001384140.1(PCDH15):c.3543C>T (p.Tyr1181=)
|
|
|
NM_001384140.1(PCDH15):c.3544del (p.Arg1182fs)
|
|
|
NM_001384140.1(PCDH15):c.3549C>G (p.Leu1183=)
|
rs2133159389
|
|
NM_001384140.1(PCDH15):c.3551T>C (p.Ile1184Thr)
|
|
|
NM_001384140.1(PCDH15):c.3554T>C (p.Ile1185Thr)
|
|
|
NM_001384140.1(PCDH15):c.355C>T (p.Gln119Ter)
|
rs1947274911
|
|
NM_001384140.1(PCDH15):c.3562A>G (p.Ile1188Val)
|
rs2133159238
|
|
NM_001384140.1(PCDH15):c.3570G>A (p.Glu1190=)
|
|
|
NM_001384140.1(PCDH15):c.3576A>G (p.Lys1192=)
|
|
|
NM_001384140.1(PCDH15):c.3579A>G (p.Glu1193=)
|
rs1564640040
|
|
NM_001384140.1(PCDH15):c.3585T>C (p.Phe1195=)
|
rs397517457
|
|
NM_001384140.1(PCDH15):c.3586G>A (p.Val1196Ile)
|
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3590T>G (p.Val1197Gly)
|
|
|
NM_001384140.1(PCDH15):c.3590_3591dup (p.Glu1198fs)
|
|
|
NM_001384140.1(PCDH15):c.3591G>A (p.Val1197=)
|
rs2133158888
|
|
NM_001384140.1(PCDH15):c.3597A>C (p.Thr1199=)
|
|
|
NM_001384140.1(PCDH15):c.3597A>G (p.Thr1199=)
|
|
|
NM_001384140.1(PCDH15):c.3600T>C (p.Tyr1200=)
|
|
|
NM_001384140.1(PCDH15):c.3600T>G (p.Tyr1200Ter)
|
rs768989856
|
|
NM_001384140.1(PCDH15):c.3601A>T (p.Thr1201Ser)
|
|
|
NM_001384140.1(PCDH15):c.3603A>G (p.Thr1201=)
|
|
|
NM_001384140.1(PCDH15):c.3606G>T (p.Gly1202=)
|
|
|
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
|
|
|
NM_001384140.1(PCDH15):c.3621T>G (p.Ala1207=)
|
rs1347276029
|
|
NM_001384140.1(PCDH15):c.3622A>G (p.Met1208Val)
|
|
|
NM_001384140.1(PCDH15):c.3630C>T (p.Phe1210=)
|
rs750059910
|
|
NM_001384140.1(PCDH15):c.3636T>C (p.Asn1212=)
|
|
|
NM_001384140.1(PCDH15):c.363C>T (p.Ile121=)
|
rs2134716610
|
|
NM_001384140.1(PCDH15):c.3647C>A (p.Ser1216Tyr)
|
rs367721759
|
|
NM_001384140.1(PCDH15):c.3660_3666del (p.Phe1220fs)
|
|
|
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter)
|
rs1589156388
|
|
NM_001384140.1(PCDH15):c.3666T>C (p.Val1222=)
|
rs762138321
|
|
NM_001384140.1(PCDH15):c.3668T>G (p.Ile1223Ser)
|
|
|
NM_001384140.1(PCDH15):c.3669T>C (p.Ile1223=)
|
rs767431595
|
|
NM_001384140.1(PCDH15):c.366del (p.Asn122fs)
|
rs1589072933
|
|
NM_001384140.1(PCDH15):c.3671C>T (p.Ala1224Val)
|
|
|
NM_001384140.1(PCDH15):c.3672A>G (p.Ala1224=)
|
rs2133157675
|
|
NM_001384140.1(PCDH15):c.3684T>C (p.Tyr1228=)
|
rs761844211
|
|
NM_001384140.1(PCDH15):c.3687G>A (p.Gly1229=)
|
rs1373901379
|
|
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter)
|
rs2079479378
|
|
NM_001384140.1(PCDH15):c.3691G>A (p.Gly1231Arg)
|
|
|
NM_001384140.1(PCDH15):c.3691G>C (p.Gly1231Arg)
|
|
|
NM_001384140.1(PCDH15):c.3694C>T (p.Leu1232=)
|
|
|
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=)
|
rs774857947
|
|
NM_001384140.1(PCDH15):c.3709G>A (p.Asp1237Asn)
|
|
|
NM_001384140.1(PCDH15):c.3711T>C (p.Asp1237=)
|
rs61731382
|
|
NM_001384140.1(PCDH15):c.3717+15C>T
|
|
|
NM_001384140.1(PCDH15):c.3717+15del
|
|
|
NM_001384140.1(PCDH15):c.3717+174AT[10]
|
rs55793083
|
|
NM_001384140.1(PCDH15):c.3717+174AT[12]
|
rs55793083
|
|
NM_001384140.1(PCDH15):c.3717+174AT[13]
|
rs55793083
|
|
NM_001384140.1(PCDH15):c.3717+174AT[14]
|
rs55793083
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>C
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1del
|
|
|
NM_001384140.1(PCDH15):c.3717+8G>T
|
|
|
NM_001384140.1(PCDH15):c.3717C>A (p.Leu1239=)
|
rs756769326
|
|
NM_001384140.1(PCDH15):c.3718-11T>C
|
|
|
NM_001384140.1(PCDH15):c.3718-16T>G
|
|
|
NM_001384140.1(PCDH15):c.3718-17G>A
|
|
|
NM_001384140.1(PCDH15):c.3718-19C>T
|
|
|
NM_001384140.1(PCDH15):c.3718-31A>G
|
rs80143445
|
|
NM_001384140.1(PCDH15):c.3718-3C>G
|
|
|
NM_001384140.1(PCDH15):c.3718-3C>T
|
rs755749920
|
|
NM_001384140.1(PCDH15):c.3721del (p.Ser1241fs)
|
|
|
NM_001384140.1(PCDH15):c.3723C>T (p.Ser1241=)
|
rs748083366
|
|
NM_001384140.1(PCDH15):c.3726G>A (p.Val1242=)
|
|
|
NM_001384140.1(PCDH15):c.3729C>G (p.Val1243=)
|
rs2133039483
|
|
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
|
|
|
NM_001384140.1(PCDH15):c.372A>T (p.Lys124Asn)
|
|
|
NM_001384140.1(PCDH15):c.3730A>G (p.Asn1244Asp)
|
|
|
NM_001384140.1(PCDH15):c.3736C>T (p.Leu1246=)
|
rs2078811943
|
|
NM_001384140.1(PCDH15):c.3738G>C (p.Leu1246=)
|
|
|
NM_001384140.1(PCDH15):c.3738G>T (p.Leu1246=)
|
|
|
NM_001384140.1(PCDH15):c.373G>A (p.Val125Met)
|
|
|
NM_001384140.1(PCDH15):c.3741T>C (p.Asp1247=)
|
rs2133039242
|
|
NM_001384140.1(PCDH15):c.3745del (p.Gln1249fs)
|
|
|
NM_001384140.1(PCDH15):c.3753T>A (p.Ile1251=)
|
|
|
NM_001384140.1(PCDH15):c.3753dup (p.Val1252fs)
|
|
|
NM_001384140.1(PCDH15):c.3756T>C (p.Val1252=)
|
|
|
NM_001384140.1(PCDH15):c.3757del (p.Ser1253fs)
|
rs2078810640
|
|
NM_001384140.1(PCDH15):c.3760A>C (p.Asn1254His)
|
rs2078810465
|
|
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
|
|
|
NM_001384140.1(PCDH15):c.3766C>T (p.Pro1256Ser)
|
|
|
NM_001384140.1(PCDH15):c.3777A>T (p.Leu1259=)
|
|
|
NM_001384140.1(PCDH15):c.3778G>C (p.Val1260Leu)
|
|
|
NM_001384140.1(PCDH15):c.3780G>A (p.Val1260=)
|
|
|
NM_001384140.1(PCDH15):c.3781dup (p.Glu1261fs)
|
|
|
NM_001384140.1(PCDH15):c.3782A>C (p.Glu1261Ala)
|
rs201106387
|
|
NM_001384140.1(PCDH15):c.3788dup (p.Ile1264fs)
|
|
|
NM_001384140.1(PCDH15):c.3789del (p.Lys1263_Ile1264insTer)
|
rs2133038541
|
|
NM_001384140.1(PCDH15):c.378C>G (p.Gly126=)
|
|
|
NM_001384140.1(PCDH15):c.3791_3792del (p.Ile1264fs)
|
rs2078806601
|
|
NM_001384140.1(PCDH15):c.3797A>C (p.Asp1266Ala)
|
rs2078805937
|
|
NM_001384140.1(PCDH15):c.3797A>G (p.Asp1266Gly)
|
|
|
NM_001384140.1(PCDH15):c.3806+13G>A
|
|
|
NM_001384140.1(PCDH15):c.3806+16T>C
|
|
|
NM_001384140.1(PCDH15):c.3806+1G>T
|
|
|
NM_001384140.1(PCDH15):c.3806+20T>C
|
|
|
NM_001384140.1(PCDH15):c.3806+7G>A
|
|
|
NM_001384140.1(PCDH15):c.3806+7del
|
rs775150264
|
|
NM_001384140.1(PCDH15):c.3807-10del
|
rs776197832
|
|
NM_001384140.1(PCDH15):c.3807-12_3807-9del
|
|
|
NM_001384140.1(PCDH15):c.3807-14T>G
|
|
|
NM_001384140.1(PCDH15):c.3807-18A>G
|
|
|
NM_001384140.1(PCDH15):c.3807-7T>C
|
rs199750810
|
|
NM_001384140.1(PCDH15):c.3810C>A (p.Ile1270=)
|
rs2132763140
|
|
NM_001384140.1(PCDH15):c.3813G>C (p.Leu1271Phe)
|
rs937214642
|
|
NM_001384140.1(PCDH15):c.3814G>C (p.Asp1272His)
|
rs766636473
|
|
NM_001384140.1(PCDH15):c.3814G>T (p.Asp1272Tyr)
|
|
|
NM_001384140.1(PCDH15):c.3818G>A (p.Arg1273His)
|
|
|
NM_001384140.1(PCDH15):c.381T>A (p.Thr127=)
|
|
|
NM_001384140.1(PCDH15):c.3825T>G (p.Val1275=)
|
rs1394892614
|
|
NM_001384140.1(PCDH15):c.382A>G (p.Ile128Val)
|
|
|
NM_001384140.1(PCDH15):c.3846C>T (p.Ala1282=)
|
|
|
NM_001384140.1(PCDH15):c.3852C>G (p.Val1284=)
|
|
|
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu)
|
rs375292203
|
|
NM_001384140.1(PCDH15):c.3857T>C (p.Val1286Ala)
|
|
|
NM_001384140.1(PCDH15):c.3861G>T (p.Glu1287Asp)
|
rs771743967
|
|
NM_001384140.1(PCDH15):c.3864C>T (p.Ser1288=)
|
|
|
NM_001384140.1(PCDH15):c.3875G>A (p.Arg1292His)
|
|
|
NM_001384140.1(PCDH15):c.3875G>C (p.Arg1292Pro)
|
|
|
NM_001384140.1(PCDH15):c.3877C>T (p.Arg1293Trp)
|
|
|
NM_001384140.1(PCDH15):c.3879G>T (p.Arg1293=)
|
|
|
NM_001384140.1(PCDH15):c.3882T>C (p.His1294=)
|
rs2132761902
|
|
NM_001384140.1(PCDH15):c.3894T>C (p.Phe1298=)
|
rs2132761720
|
|
NM_001384140.1(PCDH15):c.389A>G (p.Tyr130Cys)
|
|
|
NM_001384140.1(PCDH15):c.3906T>C (p.Asp1302=)
|
rs2077570237
|
|
NM_001384140.1(PCDH15):c.3909C>T (p.Tyr1303=)
|
|
|
NM_001384140.1(PCDH15):c.3912C>G (p.Thr1304=)
|
|
|
NM_001384140.1(PCDH15):c.3917G>A (p.Cys1306Tyr)
|
rs2132761276
|
|
NM_001384140.1(PCDH15):c.3918T>A (p.Cys1306Ter)
|
|
|
NM_001384140.1(PCDH15):c.391del (p.His131fs)
|
|
|
NM_001384140.1(PCDH15):c.3924G>A (p.Leu1308=)
|
|
|
NM_001384140.1(PCDH15):c.3928G>C (p.Val1310Leu)
|
|
|
NM_001384140.1(PCDH15):c.3937A>C (p.Ile1313Leu)
|
|
|
NM_001384140.1(PCDH15):c.3938T>C (p.Ile1313Thr)
|
|
|
NM_001384140.1(PCDH15):c.3942C>G (p.Asp1314Glu)
|
rs1356928617
|
|
NM_001384140.1(PCDH15):c.3946del (p.Gln1316fs)
|
rs1589036783
|
|
NM_001384140.1(PCDH15):c.3960C>A (p.Ala1320=)
|
|
|
NM_001384140.1(PCDH15):c.3963C>A (p.Ile1321=)
|
rs781522540
|
|
NM_001384140.1(PCDH15):c.3963C>G (p.Ile1321Met)
|
rs781522540
|
|
NM_001384140.1(PCDH15):c.3963_3964insA (p.Asp1322fs)
|
rs2077566001
|
|
NM_001384140.1(PCDH15):c.3964G>C (p.Asp1322His)
|
rs1411262816
|
|
NM_001384140.1(PCDH15):c.3964del (p.Asp1322fs)
|
|
|
NM_001384140.1(PCDH15):c.396A>G (p.Glu132=)
|
|
|
NM_001384140.1(PCDH15):c.3973G>T (p.Glu1325Ter)
|
|
|
NM_001384140.1(PCDH15):c.3974A>G (p.Glu1325Gly)
|
rs780016103
|
|
NM_001384140.1(PCDH15):c.3980T>A (p.Phe1327Tyr)
|
|
|
NM_001384140.1(PCDH15):c.3981_3982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAAATGAGCTTTTT (p.Lys1328delinsPhePhePhePhePhePheXaaXaaXaaXaaArgTyrIleSerGlnCysTyrProSerProLeuProArgProHisHisSerProGlnLysTer)
|
|
|
NM_001384140.1(PCDH15):c.3983+13dup
|
rs746916667
|
|
NM_001384140.1(PCDH15):c.3983+140_3983+141insAAC
|
rs10671958
|
|
NM_001384140.1(PCDH15):c.3983+3_3983+6del
|
|
|
NM_001384140.1(PCDH15):c.3983+8C>A
|
rs2077563848
|
|
NM_001384140.1(PCDH15):c.3983+8C>T
|
|
|
NM_001384140.1(PCDH15):c.3983+9T>G
|
|
|
NM_001384140.1(PCDH15):c.3984-170_3984-168del
|
rs10564877
|
|
NM_001384140.1(PCDH15):c.3984-18A>G
|
|
|
NM_001384140.1(PCDH15):c.3984-1G>C
|
rs1057520709
|
|
NM_001384140.1(PCDH15):c.3984-1G>T
|
rs1057520709
|
|
NM_001384140.1(PCDH15):c.3984-2A>T
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.3984-5T>C
|
|
|
NM_001384140.1(PCDH15):c.3984-6A>G
|
rs2077015569
|
|
NM_001384140.1(PCDH15):c.3990G>A (p.Leu1330=)
|
rs2132637405
|
|
NM_001384140.1(PCDH15):c.39A>T (p.Ser13=)
|
|
|
NM_001384140.1(PCDH15):c.400C>A (p.Arg134=)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.4011C>T (p.Ile1337=)
|
rs2132637076
|
|
NM_001384140.1(PCDH15):c.4014T>C (p.Asn1338=)
|
rs2132636985
|
|
NM_001384140.1(PCDH15):c.4020C>T (p.Asp1340=)
|
rs2132636936
|
|
NM_001384140.1(PCDH15):c.4024C>T (p.Gln1342Ter)
|
rs61731387
|
|
NM_001384140.1(PCDH15):c.4029G>T (p.Pro1343=)
|
|
|
NM_001384140.1(PCDH15):c.4032T>C (p.Tyr1344=)
|
|
|
NM_001384140.1(PCDH15):c.4035T>A (p.Tyr1345Ter)
|
rs1057520678
|
|
NM_001384140.1(PCDH15):c.4035T>C (p.Tyr1345=)
|
|
|
NM_001384140.1(PCDH15):c.4037G>C (p.Gly1346Ala)
|
|
|
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys)
|
rs1358647851
|
|
NM_001384140.1(PCDH15):c.4047A>G (p.Gly1349=)
|
|
|
NM_001384140.1(PCDH15):c.4047A>T (p.Gly1349=)
|
rs2077011452
|
|
NM_001384140.1(PCDH15):c.4050C>T (p.Arg1350=)
|
rs2132636501
|
|
NM_001384140.1(PCDH15):c.4051A>G (p.Ile1351Val)
|
|
|
NM_001384140.1(PCDH15):c.4059G>A (p.Glu1353=)
|
|
|
NM_001384140.1(PCDH15):c.405A>C (p.Ile135=)
|
rs1468116913
|
|
NM_001384140.1(PCDH15):c.4062C>T (p.Ile1354=)
|
rs2132636298
|
|
NM_001384140.1(PCDH15):c.4074G>A (p.Glu1358=)
|
|
|
NM_001384140.1(PCDH15):c.4079T>C (p.Val1360Ala)
|
|
|
NM_001384140.1(PCDH15):c.4080G>C (p.Val1360=)
|
rs111033499
|
|
NM_001384140.1(PCDH15):c.4083C>A (p.Thr1361=)
|
rs2132635904
|
|
NM_001384140.1(PCDH15):c.4085G>C (p.Ser1362Thr)
|
|
|
NM_001384140.1(PCDH15):c.4085G>T (p.Ser1362Ile)
|
|
|
NM_001384140.1(PCDH15):c.408G>C (p.Val136=)
|
|
|
NM_001384140.1(PCDH15):c.409G>T (p.Val137Leu)
|
|
|
NM_001384140.1(PCDH15):c.4110A>G (p.Leu1370=)
|
rs2077006762
|
|
NM_001384140.1(PCDH15):c.4111G>A (p.Gly1371Arg)
|
rs778193787
|
|
NM_001384140.1(PCDH15):c.4119A>G (p.Thr1373=)
|
|
|
NM_001384140.1(PCDH15):c.4119A>T (p.Thr1373=)
|
rs2132635336
|
|
NM_001384140.1(PCDH15):c.411G>A (p.Val137=)
|
rs1444023789
|
|
NM_001384140.1(PCDH15):c.4122A>G (p.Glu1374=)
|
rs2132635293
|
|
NM_001384140.1(PCDH15):c.4125G>C (p.Gly1375=)
|
|
|
NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.4128dup (p.Leu1378fs)
|
rs2077005374
|
|
NM_001384140.1(PCDH15):c.4140G>C (p.Leu1380=)
|
|
|
NM_001384140.1(PCDH15):c.4143C>T (p.Ala1381=)
|
rs2132635037
|
|
NM_001384140.1(PCDH15):c.4147ATC[2] (p.Ile1385del)
|
|
|
NM_001384140.1(PCDH15):c.4153A>G (p.Ile1385Val)
|
|
|
NM_001384140.1(PCDH15):c.4158C>T (p.Leu1386=)
|
rs1253422113
|
|
NM_001384140.1(PCDH15):c.4159T>C (p.Cys1387Arg)
|
|
|
NM_001384140.1(PCDH15):c.4163G>A (p.Cys1388Tyr)
|
|
|
NM_001384140.1(PCDH15):c.4167T>C (p.Ile1389=)
|
rs2132634810
|
|
NM_001384140.1(PCDH15):c.416A>T (p.Asp139Val)
|
|
|
NM_001384140.1(PCDH15):c.417C>T (p.Asp139=)
|
|
|
NM_001384140.1(PCDH15):c.4182G>T (p.Val1394=)
|
|
|
NM_001384140.1(PCDH15):c.4188G>A (p.Leu1396=)
|
|
|
NM_001384140.1(PCDH15):c.4191C>G (p.Val1397=)
|
|
|
NM_001384140.1(PCDH15):c.4193G>A (p.Ser1398Asn)
|
rs2132634589
|
|
NM_001384140.1(PCDH15):c.4197C>G (p.Tyr1399Ter)
|
rs2132634562
|
|
NM_001384140.1(PCDH15):c.4201C>G (p.Gln1401Glu)
|
rs2077002696
|
|
NM_001384140.1(PCDH15):c.4201C>T (p.Gln1401Ter)
|
|
|
NM_001384140.1(PCDH15):c.4202+129_4202+132del
|
rs59637951
|
|
NM_001384140.1(PCDH15):c.4202+15A>G
|
rs761566345
|
|
NM_001384140.1(PCDH15):c.4202+18G>A
|
|
|
NM_001384140.1(PCDH15):c.4202+19T>A
|
rs2077001583
|
|
NM_001384140.1(PCDH15):c.4202+8T>A
|
rs2132634323
|
|
NM_001384140.1(PCDH15):c.4202+9del
|
rs2132634297
|
|
NM_001384140.1(PCDH15):c.4203-10T>C
|
rs2132598726
|
|
NM_001384140.1(PCDH15):c.4203-12T>C
|
rs201987190
|
|
NM_001384140.1(PCDH15):c.4203-14G>C
|
|
|
NM_001384140.1(PCDH15):c.4203-18T>G
|
|
|
NM_001384140.1(PCDH15):c.4203-19C>T
|
rs2132598957
|
|
NM_001384140.1(PCDH15):c.4203-1G>A
|
rs2076841806
|
|
NM_001384140.1(PCDH15):c.4203-283T>A
|
rs58380438
|
|
NM_001384140.1(PCDH15):c.4203-4del
|
rs779015202
|
|
NM_001384140.1(PCDH15):c.4203-5_4203-2dup
|
|
|
NM_001384140.1(PCDH15):c.4203-6A>T
|
rs2132598519
|
|
NM_001384140.1(PCDH15):c.4203-7C>A
|
|
|
NM_001384140.1(PCDH15):c.4203-7del
|
rs2132598591
|
|
NM_001384140.1(PCDH15):c.4203G>A (p.Gln1401=)
|
rs757898459
|
|
NM_001384140.1(PCDH15):c.4203G>T (p.Gln1401His)
|
|
|
NM_001384140.1(PCDH15):c.4204T>G (p.Phe1402Val)
|
|
|
NM_001384140.1(PCDH15):c.4209A>G (p.Lys1403=)
|
|
|
NM_001384140.1(PCDH15):c.4211+12T>G
|
rs766470560
|
|
NM_001384140.1(PCDH15):c.4211+15del
|
|
|
NM_001384140.1(PCDH15):c.4211+1G>T
|
|
|
NM_001384140.1(PCDH15):c.4211+2dup
|
rs1057517419
|
|
NM_001384140.1(PCDH15):c.4211+318T>C
|
rs79302491
|
|
NM_001384140.1(PCDH15):c.4211+4_4211+7dup
|
|
|
NM_001384140.1(PCDH15):c.4211+5G>T
|
|
|
NM_001384140.1(PCDH15):c.4211+7A>G
|
rs756020408
|
|
NM_001384140.1(PCDH15):c.4211+9A>G
|
rs1588974103
|
|
NM_001384140.1(PCDH15):c.4211+9_4211+11dup
|
|
|
NM_001384140.1(PCDH15):c.4212-11_4212-7dup
|
|
|
NM_001384140.1(PCDH15):c.4212-12A>G
|
|
|
NM_001384140.1(PCDH15):c.4212-17T>C
|
|
|
NM_001384140.1(PCDH15):c.4212-18A>G
|
|
|
NM_001384140.1(PCDH15):c.4212-1G>A
|
rs2132580888
|
|
NM_001384140.1(PCDH15):c.4212-20C>T
|
rs775958545
|
|
NM_001384140.1(PCDH15):c.4212-4C>A
|
rs1742862612
|
|
NM_001384140.1(PCDH15):c.4212-4C>T
|
rs1742862612
|
|
NM_001384140.1(PCDH15):c.4212-7del
|
|
|
NM_001384140.1(PCDH15):c.4213C>T (p.Arg1405Cys)
|
|
|
NM_001384140.1(PCDH15):c.4223A>G (p.Glu1408Gly)
|
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4233G>A (p.Lys1411=)
|
rs767354331
|
|
NM_001384140.1(PCDH15):c.4238del (p.Ala1413fs)
|
|
|
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)
|
rs2134714165
|
|
NM_001384140.1(PCDH15):c.4248G>A (p.Gln1416=)
|
rs2132580181
|
|
NM_001384140.1(PCDH15):c.4251C>A (p.Ala1417=)
|
rs751189532
|
|
NM_001384140.1(PCDH15):c.4251C>G (p.Ala1417=)
|
rs751189532
|
|
NM_001384140.1(PCDH15):c.4251C>T (p.Ala1417=)
|
rs751189532
|
|
NM_001384140.1(PCDH15):c.4254A>C (p.Ala1418=)
|
rs764548141
|
|
NM_001384140.1(PCDH15):c.4255T>C (p.Leu1419=)
|
rs2132579908
|
|
NM_001384140.1(PCDH15):c.4260C>A (p.Pro1420=)
|
|
|
NM_001384140.1(PCDH15):c.4274del (p.Ala1425fs)
|
rs2132579465
|
|
NM_001384140.1(PCDH15):c.4275A>C (p.Ala1425=)
|
rs774100942
|
|
NM_001384140.1(PCDH15):c.4278G>A (p.Val1426=)
|
|
|
NM_001384140.1(PCDH15):c.4278G>T (p.Val1426=)
|
rs2076761242
|
|
NM_001384140.1(PCDH15):c.4279C>T (p.Pro1427Ser)
|
rs2076761111
|
|
NM_001384140.1(PCDH15):c.4280C>A (p.Pro1427Gln)
|
rs1054476980
|
|
NM_001384140.1(PCDH15):c.4280C>T (p.Pro1427Leu)
|
|
|
NM_001384140.1(PCDH15):c.4281G>A (p.Pro1427=)
|
rs1286261538
|
|
NM_001384140.1(PCDH15):c.4281G>C (p.Pro1427=)
|
|
|
NM_001384140.1(PCDH15):c.4284T>C (p.Ala1428=)
|
|
|
NM_001384140.1(PCDH15):c.4289_4319del (p.Ala1430fs)
|
|
|
NM_001384140.1(PCDH15):c.428A>G (p.Asn143Ser)
|
|
|
NM_001384140.1(PCDH15):c.4290A>C (p.Ala1430=)
|
rs1472367791
|
|
NM_001384140.1(PCDH15):c.4290A>G (p.Ala1430=)
|
|
|
NM_001384140.1(PCDH15):c.4292C>T (p.Pro1431Leu)
|
rs2132578931
|
|
NM_001384140.1(PCDH15):c.4293A>C (p.Pro1431=)
|
|
|
NM_001384140.1(PCDH15):c.4293A>G (p.Pro1431=)
|
|
|
NM_001384140.1(PCDH15):c.4296G>A (p.Val1432=)
|
|
|
NM_001384140.1(PCDH15):c.4299A>G (p.Ala1433=)
|
rs1588968218
|
|
NM_001384140.1(PCDH15):c.42G>A (p.Gly14=)
|
|
|
NM_001384140.1(PCDH15):c.42G>C (p.Gly14=)
|
rs1043975803
|
|
NM_001384140.1(PCDH15):c.42G>T (p.Gly14=)
|
rs1043975803
|
|
NM_001384140.1(PCDH15):c.4302G>T (p.Ala1434=)
|
|
|
NM_001384140.1(PCDH15):c.4303C>T (p.Pro1435Ser)
|
rs766039931
|
|
NM_001384140.1(PCDH15):c.4305C>G (p.Pro1435=)
|
|
|
NM_001384140.1(PCDH15):c.4305C>T (p.Pro1435=)
|
rs2076757559
|
|
NM_001384140.1(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup)
|
rs1327987212
|
|
NM_001384140.1(PCDH15):c.4306C>T (p.Pro1436Ser)
|
rs765570619
|
|
NM_001384140.1(PCDH15):c.4307C>G (p.Pro1436Arg)
|
|
|
NM_001384140.1(PCDH15):c.4307C>T (p.Pro1436Leu)
|
rs555694787
|
|
NM_001384140.1(PCDH15):c.4308G>A (p.Pro1436=)
|
rs1160719926
|
|
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=)
|
rs1160719926
|
|
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[3] (p.Pro1442_Pro1443del)
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[4] (p.Pro1443del)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[8] (p.Pro1441_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=)
|
rs949983423
|
|
NM_001384140.1(PCDH15):c.4311G>T (p.Pro1437=)
|
|
|
NM_001384140.1(PCDH15):c.4314G>A (p.Pro1438=)
|
rs535913178
|
|
NM_001384140.1(PCDH15):c.4314G>C (p.Pro1438=)
|
|
|
NM_001384140.1(PCDH15):c.4314G>T (p.Pro1438=)
|
rs535913178
|
|
NM_001384140.1(PCDH15):c.4318C>T (p.Pro1440Ser)
|
rs2076754812
|
|
NM_001384140.1(PCDH15):c.4319C>G (p.Pro1440Arg)
|
rs764173741
|
|
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup)
|
rs776051221
|
|
NM_001384140.1(PCDH15):c.4323T>G (p.Pro1441=)
|
rs570029304
|
|
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
|
|
|
NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
|
|
|
NM_001384140.1(PCDH15):c.4325C>T (p.Pro1442Leu)
|
|
|
NM_001384140.1(PCDH15):c.4326G>T (p.Pro1442=)
|
rs1588967678
|
|
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu)
|
rs767761740
|
|
NM_001384140.1(PCDH15):c.4329A>G (p.Pro1443=)
|
rs369289143
|
|
NM_001384140.1(PCDH15):c.432A>T (p.Ser144=)
|
rs2134713953
|
|
NM_001384140.1(PCDH15):c.4335G>C (p.Ala1445=)
|
rs570557379
|
|
NM_001384140.1(PCDH15):c.4341C>A (p.Leu1447=)
|
|
|
NM_001384140.1(PCDH15):c.4341C>T (p.Leu1447=)
|
rs2076751499
|
|
NM_001384140.1(PCDH15):c.4343A>C (p.Tyr1448Ser)
|
rs397517459
|
|
NM_001384140.1(PCDH15):c.4344T>C (p.Tyr1448=)
|
|
|
NM_001384140.1(PCDH15):c.4349_4352dup (p.Gly1452fs)
|
rs2132576827
|
|
NM_001384140.1(PCDH15):c.4350A>G (p.Glu1450=)
|
rs1243436079
|
|
NM_001384140.1(PCDH15):c.435C>T (p.Pro145=)
|
|
|
NM_001384140.1(PCDH15):c.4360A>C (p.Ser1454Arg)
|
rs144616228
|
|
NM_001384140.1(PCDH15):c.4365A>G (p.Ser1455=)
|
|
|
NM_001384140.1(PCDH15):c.4367+10C>A
|
|
|
NM_001384140.1(PCDH15):c.4367+10C>T
|
|
|
NM_001384140.1(PCDH15):c.4367+12G>A
|
|
|
NM_001384140.1(PCDH15):c.4367+12G>T
|
|
|
NM_001384140.1(PCDH15):c.4367+15C>G
|
|
|
NM_001384140.1(PCDH15):c.4367+15C>T
|
|
|
NM_001384140.1(PCDH15):c.4367+18G>C
|
|
|
NM_001384140.1(PCDH15):c.4367+18del
|
|
|
NM_001384140.1(PCDH15):c.4367+1986del
|
rs11331854
|
|
NM_001384140.1(PCDH15):c.4367+19A>G
|
|
|
NM_001384140.1(PCDH15):c.4367+2070_4367+2073dup
|
rs145708230
|
|
NM_001384140.1(PCDH15):c.4367+2122del
|
rs11331853
|
|
NM_001384140.1(PCDH15):c.4367+2262_4367+2265del
|
rs531963480
|
|
NM_001384140.1(PCDH15):c.4367+2544_4367+2547dup
|
rs112067787
|
|
NM_001384140.1(PCDH15):c.4367+4_4367+7dup
|
rs2076748483
|
|
NM_001384140.1(PCDH15):c.4367+6T>C
|
|
|
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr)
|
rs2076749331
|
|
NM_001384140.1(PCDH15):c.4368-3138T>C
|
rs1270575255
|
|
NM_001384140.1(PCDH15):c.4368-3139TTTC[3]
|
rs764494096
|
|
NM_001384140.1(PCDH15):c.4368-3141_4368-3139del
|
|
|
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3]
|
rs1452730552
|
|
NM_001384140.1(PCDH15):c.4368-3146A>G
|
|
|
NM_001384140.1(PCDH15):c.4368-3146A>T
|
|
|
NM_001384140.1(PCDH15):c.4368-3150_4368-3132dup
|
rs2076440717
|
|
NM_001384140.1(PCDH15):c.4368-3155_4368-3147del
|
|
|
NM_001384140.1(PCDH15):c.4368-3205G>A
|
rs776152870
|
|
NM_001384140.1(PCDH15):c.4368-3342_4368-3335dup
|
rs368371094
|
|
NM_001384140.1(PCDH15):c.4368-3396_4368-3391del
|
rs534562576
|
|
NM_001384140.1(PCDH15):c.4368-3402CAAAAA[3]
|
rs534562576
|
|
NM_001384140.1(PCDH15):c.444G>A (p.Lys148=)
|
|
|
NM_001384140.1(PCDH15):c.446A>C (p.His149Pro)
|
|
|
NM_001384140.1(PCDH15):c.4492-1191G>A
|
rs869312036
|
|
NM_001384140.1(PCDH15):c.451A>G (p.Ser151Gly)
|
rs373042793
|
|
NM_001384140.1(PCDH15):c.453C>T (p.Ser151=)
|
|
|
NM_001384140.1(PCDH15):c.458A>G (p.Tyr153Cys)
|
|
|
NM_001384140.1(PCDH15):c.459T>C (p.Tyr153=)
|
|
|
NM_001384140.1(PCDH15):c.461C>A (p.Ala154Asp)
|
|
|
NM_001384140.1(PCDH15):c.4626T>C (p.Tyr1542=)
|
rs1588880146
|
|
NM_001384140.1(PCDH15):c.462C>T (p.Ala154=)
|
rs1344094704
|
|
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
|
rs561144747
|
|
NM_001384140.1(PCDH15):c.465A>G (p.Thr155=)
|
rs559193058
|
|
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met)
|
rs534173969
|
|
NM_001384140.1(PCDH15):c.4671+1064G>T
|
rs778362385
|
|
NM_001384140.1(PCDH15):c.4671+1067G>A
|
rs543196211
|
|
NM_001384140.1(PCDH15):c.4671+1344_4671+1345delinsCC
|
rs1554815737
|
|
NM_001384140.1(PCDH15):c.4671+1345G>C
|
rs531574437
|
|
NM_001384140.1(PCDH15):c.4671+1396A>G
|
rs776020523
|
|
NM_001384140.1(PCDH15):c.4671+1552A>G
|
|
|
NM_001384140.1(PCDH15):c.4671+1633T>A
|
rs886042518
|
|
NM_001384140.1(PCDH15):c.4671+1657C>T
|
|
|
NM_001384140.1(PCDH15):c.4671+747G>T
|
rs10763008
|
|
NM_001384140.1(PCDH15):c.4671+753T>A
|
rs10763007
|
|
NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup
|
rs373720521
|
|
NM_001384140.1(PCDH15):c.4672-1672C>T
|
|
|
NM_001384140.1(PCDH15):c.4672-26_4672-23dup
|
rs376293297
|
|
NM_001384140.1(PCDH15):c.4672-294dup
|
rs34337581
|
|
NM_001384140.1(PCDH15):c.4672-4_4672-2dup
|
rs773129893
|
|
NM_001384140.1(PCDH15):c.4672-8_4672-4del
|
rs528346155
|
|
NM_001384140.1(PCDH15):c.468G>A (p.Val156=)
|
|
|
NM_001384140.1(PCDH15):c.468G>T (p.Val156=)
|
|
|
NM_001384140.1(PCDH15):c.4728_4730dup (p.Thr1577dup)
|
rs143978284
|
|
NM_001384140.1(PCDH15):c.472G>T (p.Glu158Ter)
|
|
|
NM_001384140.1(PCDH15):c.474+12T>C
|
|
|
NM_001384140.1(PCDH15):c.474+17T>C
|
|
|
NM_001384140.1(PCDH15):c.474+20C>A
|
|
|
NM_001384140.1(PCDH15):c.474+20C>G
|
|
|
NM_001384140.1(PCDH15):c.474+9C>A
|
|
|
NM_001384140.1(PCDH15):c.475-14T>C
|
|
|
NM_001384140.1(PCDH15):c.475-14dup
|
rs1157582942
|
|
NM_001384140.1(PCDH15):c.475-16T>C
|
|
|
NM_001384140.1(PCDH15):c.475-18A>T
|
|
|
NM_001384140.1(PCDH15):c.475-2A>C
|
|
|
NM_001384140.1(PCDH15):c.475-2A>G
|
|
|
NM_001384140.1(PCDH15):c.475-4T>G
|
|
|
NM_001384140.1(PCDH15):c.475-7del
|
rs2134177123
|
|
NM_001384140.1(PCDH15):c.475-9T>A
|
|
|
NM_001384140.1(PCDH15):c.475-9del
|
rs1157582942
|
|
NM_001384140.1(PCDH15):c.47T>C (p.Ile16Thr)
|
|
|
NM_001384140.1(PCDH15):c.481C>G (p.Pro161Ala)
|
|
|
NM_001384140.1(PCDH15):c.488G>T (p.Gly163Val)
|
rs1314363353
|
|
NM_001384140.1(PCDH15):c.4955_4959dup (p.Leu1654fs)
|
rs1003847739
|
|
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs)
|
rs570460962
|
|
NM_001384140.1(PCDH15):c.49C>A (p.Leu17Met)
|
rs2094534620
|
|
NM_001384140.1(PCDH15):c.519C>T (p.Asp173=)
|
|
|
NM_001384140.1(PCDH15):c.522T>C (p.Asn174=)
|
|
|
NM_001384140.1(PCDH15):c.536T>C (p.Ile179Thr)
|
rs750822290
|
|
NM_001384140.1(PCDH15):c.541G>A (p.Asp181Asn)
|
|
|
NM_001384140.1(PCDH15):c.546A>T (p.Gly182=)
|
|
|
NM_001384140.1(PCDH15):c.548C>A (p.Pro183Gln)
|
|
|
NM_001384140.1(PCDH15):c.54_55inv (p.Ser19Ala)
|
|
|
NM_001384140.1(PCDH15):c.555A>G (p.Gly185=)
|
|
|
NM_001384140.1(PCDH15):c.55T>A (p.Ser19Thr)
|
|
|
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs)
|
rs2134175729
|
|
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter)
|
rs1943288780
|
|
NM_001384140.1(PCDH15):c.567T>C (p.Tyr189=)
|
|
|
NM_001384140.1(PCDH15):c.573T>C (p.Ile191=)
|
|
|
NM_001384140.1(PCDH15):c.576G>A (p.Gln192=)
|
|
|
NM_001384140.1(PCDH15):c.57T>G (p.Ser19=)
|
|
|
NM_001384140.1(PCDH15):c.582T>C (p.Asn194=)
|
|
|
NM_001384140.1(PCDH15):c.594+12C>G
|
|
|
NM_001384140.1(PCDH15):c.594+12C>T
|
|
|
NM_001384140.1(PCDH15):c.594+19G>A
|
|
|
NM_001384140.1(PCDH15):c.594+20C>T
|
|
|
NM_001384140.1(PCDH15):c.594+9A>G
|
|
|
NM_001384140.1(PCDH15):c.595-13T>G
|
|
|
NM_001384140.1(PCDH15):c.595-15C>G
|
|
|
NM_001384140.1(PCDH15):c.595-2A>C
|
rs1939028166
|
|
NM_001384140.1(PCDH15):c.595-4G>T
|
rs1939028582
|
|
NM_001384140.1(PCDH15):c.595-8A>T
|
|
|
NM_001384140.1(PCDH15):c.595-9T>A
|
rs767505392
|
|
NM_001384140.1(PCDH15):c.595A>G (p.Thr199Ala)
|
|
|
NM_001384140.1(PCDH15):c.596C>A (p.Thr199Lys)
|
rs2133884443
|
|
NM_001384140.1(PCDH15):c.596C>T (p.Thr199Ile)
|
rs2133884443
|
|
NM_001384140.1(PCDH15):c.606C>T (p.Asp202=)
|
rs1939021574
|
|
NM_001384140.1(PCDH15):c.609C>T (p.Thr203=)
|
rs762859513
|
|
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)
|
rs2135421905
|
|
NM_001384140.1(PCDH15):c.610T>A (p.Phe204Ile)
|
|
|
NM_001384140.1(PCDH15):c.617_618del (p.Ile206fs)
|
rs2133883986
|
|
NM_001384140.1(PCDH15):c.618T>A (p.Ile206=)
|
|
|
NM_001384140.1(PCDH15):c.619C>T (p.Pro207Ser)
|
rs776708410
|
|
NM_001384140.1(PCDH15):c.621C>G (p.Pro207=)
|
rs2133883807
|
|
NM_001384140.1(PCDH15):c.626T>C (p.Met209Thr)
|
|
|
NM_001384140.1(PCDH15):c.628T>C (p.Leu210=)
|
rs1159090797
|
|
NM_001384140.1(PCDH15):c.639T>G (p.Asn213Lys)
|
rs2133883377
|
|
NM_001384140.1(PCDH15):c.63T>C (p.Phe21=)
|
|
|
NM_001384140.1(PCDH15):c.642A>C (p.Ile214=)
|
rs1191388453
|
|
NM_001384140.1(PCDH15):c.649A>G (p.Arg217Gly)
|
|
|
NM_001384140.1(PCDH15):c.657G>A (p.Arg219=)
|
|
|
NM_001384140.1(PCDH15):c.657G>T (p.Arg219Ser)
|
|
|
NM_001384140.1(PCDH15):c.665A>G (p.Tyr222Cys)
|
rs755845400
|
|
NM_001384140.1(PCDH15):c.669A>C (p.Glu223Asp)
|
|
|
NM_001384140.1(PCDH15):c.672T>C (p.Asp224=)
|
|
|
NM_001384140.1(PCDH15):c.675G>C (p.Lys225Asn)
|
rs1403705158
|
|
NM_001384140.1(PCDH15):c.678T>G (p.Thr226=)
|
rs759127233
|
|
NM_001384140.1(PCDH15):c.680G>T (p.Arg227Leu)
|
rs766401854
|
|
NM_001384140.1(PCDH15):c.693A>T (p.Ile231=)
|
|
|
NM_001384140.1(PCDH15):c.695T>C (p.Ile232Thr)
|
|
|
NM_001384140.1(PCDH15):c.699A>G (p.Gln233=)
|
|
|
NM_001384140.1(PCDH15):c.6T>C (p.Phe2=)
|
|
|
NM_001384140.1(PCDH15):c.705+10C>T
|
rs893600821
|
|
NM_001384140.1(PCDH15):c.705+19T>C
|
|
|
NM_001384140.1(PCDH15):c.705+19_705+29del
|
|
|
NM_001384140.1(PCDH15):c.705T>C (p.Asn235=)
|
rs112059717
|
|
NM_001384140.1(PCDH15):c.706-10T>C
|
rs2061347468
|
|
NM_001384140.1(PCDH15):c.706-17_706-14del
|
rs886047068
|
|
NM_001384140.1(PCDH15):c.706-20T>C
|
|
|
NM_001384140.1(PCDH15):c.706-20T>G
|
|
|
NM_001384140.1(PCDH15):c.706-21_706-19del
|
rs2061348145
|
|
NM_001384140.1(PCDH15):c.706-266T>C
|
rs12240859
|
|
NM_001384140.1(PCDH15):c.706-2A>G
|
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384140.1(PCDH15):c.706-8_706-7delinsTT
|
|
|
NM_001384140.1(PCDH15):c.706-9_706-8delinsGT
|
rs2133653994
|
|
NM_001384140.1(PCDH15):c.708C>T (p.Asp236=)
|
|
|
NM_001384140.1(PCDH15):c.709C>A (p.Arg237Ser)
|
|
|
NM_001384140.1(PCDH15):c.710G>A (p.Arg237His)
|
|
|
NM_001384140.1(PCDH15):c.711T>C (p.Arg237=)
|
|
|
NM_001384140.1(PCDH15):c.712G>A (p.Ala238Thr)
|
rs957945054
|
|
NM_001384140.1(PCDH15):c.71G>A (p.Cys24Tyr)
|
|
|
NM_001384140.1(PCDH15):c.71G>C (p.Cys24Ser)
|
|
|
NM_001384140.1(PCDH15):c.721C>T (p.Leu241=)
|
rs2133653335
|
|
NM_001384140.1(PCDH15):c.723G>C (p.Leu241=)
|
|
|
NM_001384140.1(PCDH15):c.729G>A (p.Glu243=)
|
|
|
NM_001384140.1(PCDH15):c.732G>A (p.Arg244=)
|
|
|
NM_001384140.1(PCDH15):c.734G>T (p.Arg245Leu)
|
|
|
NM_001384140.1(PCDH15):c.738C>A (p.Thr246=)
|
|
|
NM_001384140.1(PCDH15):c.738C>T (p.Thr246=)
|
|
|
NM_001384140.1(PCDH15):c.741C>T (p.Thr247=)
|
|
|
NM_001384140.1(PCDH15):c.757G>A (p.Val253Met)
|
rs1375595808
|
|
NM_001384140.1(PCDH15):c.758T>C (p.Val253Ala)
|
|
|
NM_001384140.1(PCDH15):c.75G>A (p.Leu25=)
|
|
|
NM_001384140.1(PCDH15):c.75G>C (p.Leu25Phe)
|
|
|
NM_001384140.1(PCDH15):c.765T>C (p.Val255=)
|
rs2133651808
|
|
NM_001384140.1(PCDH15):c.787C>T (p.Pro263Ser)
|
rs2133651169
|
|
NM_001384140.1(PCDH15):c.789A>C (p.Pro263=)
|
rs1221887715
|
|
NM_001384140.1(PCDH15):c.790A>T (p.Met264Leu)
|
rs895994892
|
|
NM_001384140.1(PCDH15):c.804T>A (p.Cys268Ter)
|
|
|
NM_001384140.1(PCDH15):c.805G>A (p.Val269Ile)
|
rs2061340191
|
|
NM_001384140.1(PCDH15):c.809T>C (p.Leu270Pro)
|
|
|
NM_001384140.1(PCDH15):c.810T>C (p.Leu270=)
|
|
|
NM_001384140.1(PCDH15):c.813G>C (p.Val271=)
|
|
|
NM_001384140.1(PCDH15):c.819C>T (p.Asn273=)
|
rs2133649647
|
|
NM_001384140.1(PCDH15):c.81G>A (p.Gln27=)
|
rs2135421575
|
|
NM_001384140.1(PCDH15):c.821C>G (p.Thr274Ser)
|
|
|
NM_001384140.1(PCDH15):c.822T>G (p.Thr274=)
|
rs2133649478
|
|
NM_001384140.1(PCDH15):c.823C>T (p.Arg275Cys)
|
|
|
NM_001384140.1(PCDH15):c.831C>T (p.Cys277=)
|
rs2061337391
|
|
NM_001384140.1(PCDH15):c.836C>T (p.Pro279Leu)
|
rs774256902
|
|
NM_001384140.1(PCDH15):c.837A>T (p.Pro279=)
|
|
|
NM_001384140.1(PCDH15):c.838C>G (p.Leu280Val)
|
|
|
NM_001384140.1(PCDH15):c.840C>T (p.Leu280=)
|
|
|
NM_001384140.1(PCDH15):c.846T>C (p.Tyr282=)
|
|
|
NM_001384140.1(PCDH15):c.84dup (p.Asp29Ter)
|
rs2135421507
|
|
NM_001384140.1(PCDH15):c.850G>A (p.Ala284Thr)
|
|
|
NM_001384140.1(PCDH15):c.859C>A (p.Pro287Thr)
|
rs2133647918
|
|
NM_001384140.1(PCDH15):c.859C>T (p.Pro287Ser)
|
|
|
NM_001384140.1(PCDH15):c.865T>C (p.Leu289=)
|
|
|
NM_001384140.1(PCDH15):c.866T>C (p.Leu289Ser)
|
|
|
NM_001384140.1(PCDH15):c.873T>C (p.Thr291=)
|
rs200316258
|
|
NM_001384140.1(PCDH15):c.873T>G (p.Thr291=)
|
|
|
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)
|
rs138744579
|
|
NM_001384140.1(PCDH15):c.875C>T (p.Pro292Leu)
|
|
|
NM_001384140.1(PCDH15):c.876+12C>G
|
|
|
NM_001384140.1(PCDH15):c.876+12C>T
|
|
|
NM_001384140.1(PCDH15):c.876+14T>C
|
|
|
NM_001384140.1(PCDH15):c.876+14T>G
|
|
|
NM_001384140.1(PCDH15):c.876+15A>C
|
|
|
NM_001384140.1(PCDH15):c.876+16T>C
|
|
|
NM_001384140.1(PCDH15):c.876+17C>A
|
|
|
NM_001384140.1(PCDH15):c.876+17C>G
|
|
|
NM_001384140.1(PCDH15):c.876+17C>T
|
|
|
NM_001384140.1(PCDH15):c.876+7A>G
|
rs1435301478
|
|
NM_001384140.1(PCDH15):c.876+9A>T
|
|
|
NM_001384140.1(PCDH15):c.876G>A (p.Pro292=)
|
|
|
NM_001384140.1(PCDH15):c.877-11T>C
|
|
|
NM_001384140.1(PCDH15):c.877-12dup
|
rs200395027
|
|
NM_001384140.1(PCDH15):c.877-15T>A
|
|
|
NM_001384140.1(PCDH15):c.877-15dup
|
|
|
NM_001384140.1(PCDH15):c.877-16T>C
|
|
|
NM_001384140.1(PCDH15):c.877-17C>G
|
|
|
NM_001384140.1(PCDH15):c.877-18_877-15del
|
|
|
NM_001384140.1(PCDH15):c.877-19C>A
|
|
|
NM_001384140.1(PCDH15):c.877-20T>C
|
|
|
NM_001384140.1(PCDH15):c.877-21CT[2]
|
|
|
NM_001384140.1(PCDH15):c.877-4del
|
rs200395027
|
|
NM_001384140.1(PCDH15):c.877-5_877-4del
|
rs200395027
|
|
NM_001384140.1(PCDH15):c.877-8T>C
|
rs770813649
|
|
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048
|
|
NM_001384140.1(PCDH15):c.905C>G (p.Pro302Arg)
|
rs2134389343
|
|
NM_001384140.1(PCDH15):c.908C>A (p.Pro303Gln)
|
|
|
NM_001384140.1(PCDH15):c.909A>T (p.Pro303=)
|
|
|
NM_001384140.1(PCDH15):c.91+15A>G
|
|
|
NM_001384140.1(PCDH15):c.91+15A>T
|
|
|
NM_001384140.1(PCDH15):c.91+16G>T
|
|
|
NM_001384140.1(PCDH15):c.91+1G>A
|
rs1565887701
|
|
NM_001384140.1(PCDH15):c.91+5G>A
|
|
|
NM_001384140.1(PCDH15):c.912C>T (p.Ile304=)
|
rs2134389217
|
|
NM_001384140.1(PCDH15):c.921T>C (p.Ile307=)
|
rs2134389014
|
|
NM_001384140.1(PCDH15):c.922G>T (p.Asp308Tyr)
|
rs2054681160
|
|
NM_001384140.1(PCDH15):c.925C>G (p.Gln309Glu)
|
|
|
NM_001384140.1(PCDH15):c.931C>A (p.Arg311=)
|
rs935278110
|
|
NM_001384140.1(PCDH15):c.933G>C (p.Arg311=)
|
rs775730183
|
|
NM_001384140.1(PCDH15):c.935A>G (p.Asn312Ser)
|
rs2134388632
|
|
NM_001384140.1(PCDH15):c.938T>A (p.Ile313Asn)
|
rs2054677858
|
|
NM_001384140.1(PCDH15):c.945G>A (p.Pro315=)
|
rs150450873
|
|
NM_001384140.1(PCDH15):c.946C>G (p.Pro316Ala)
|
|
|
NM_001384140.1(PCDH15):c.951A>C (p.Ser317=)
|
|
|
NM_001384140.1(PCDH15):c.957G>A (p.Arg319=)
|
rs372100223
|
|
NM_001384140.1(PCDH15):c.960_967del (p.Gly321fs)
|
rs1264391272
|
|
NM_001384140.1(PCDH15):c.973dup (p.Ser325fs)
|
|
|
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe)
|
rs145011716
|
|
NM_001384140.1(PCDH15):c.975del (p.Ile326fs)
|
|
|
NM_001384140.1(PCDH15):c.980T>A (p.Leu327His)
|
|
|
NM_001384140.1(PCDH15):c.985+10T>G
|
rs1406354205
|
|
NM_001384140.1(PCDH15):c.985+12A>C
|
|
|
NM_001384140.1(PCDH15):c.985+12A>G
|
|
|
NM_001384140.1(PCDH15):c.985+16C>T
|
|
|
NM_001384140.1(PCDH15):c.985+19T>G
|
|
|
NM_001384140.1(PCDH15):c.985+1G>C
|
rs2134387647
|
|
NM_001384140.1(PCDH15):c.985_985+3del
|
|
|
NM_001384140.1(PCDH15):c.986-10T>C
|
|
|
NM_001384140.1(PCDH15):c.986-208_986-205del
|
rs35744658
|
|
NM_001384140.1(PCDH15):c.986-7C>T
|
rs915988368
|
|
NM_001384140.1(PCDH15):c.986-8T>C
|
|
|
NM_001384140.1(PCDH15):c.987G>C (p.Gly329=)
|
rs2051733669
|
|
NM_001384140.1(PCDH15):c.996_999del (p.Glu332fs)
|
rs2134108223
|
|
NM_001384140.1(PCDH15):c.998A>C (p.Asp333Ala)
|
rs1294214109
|
|
NM_001384140.1(PCDH15):c.999T>C (p.Asp333=)
|
|
|
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.4368-2A>G
|
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4368-3_4369dup
|
rs866966373
|
|
NM_033056.4(PCDH15):c.4368-3_4373dup
|
|
|
NM_033056.4(PCDH15):c.4369_4372dup (p.Phe1458fs)
|
rs754624281
|
|
NM_033056.4(PCDH15):c.4372_4390dup (p.Gln1464fs)
|
|
|
NM_033056.4(PCDH15):c.4380C>T (p.Leu1460=)
|
rs2132512661
|
|
NM_033056.4(PCDH15):c.4382_4385dup (p.His1462fs)
|
|
|
NM_033056.4(PCDH15):c.4383C>G (p.Tyr1461Ter)
|
|
|
NM_033056.4(PCDH15):c.4386T>C (p.His1462=)
|
|
|
NM_033056.4(PCDH15):c.4398_4414del (p.Arg1467fs)
|
|
|
NM_033056.4(PCDH15):c.4399A>C (p.Arg1467=)
|
rs2132512361
|
|
NM_033056.4(PCDH15):c.4402G>A (p.Gly1468Arg)
|
rs1406470633
|
|
NM_033056.4(PCDH15):c.4403G>A (p.Gly1468Glu)
|
rs1193544017
|
|
NM_033056.4(PCDH15):c.4406_4409dup (p.Asn1470delinsLysTer)
|
rs2076434973
|
|
NM_033056.4(PCDH15):c.4408_4468dup (p.Ile1490fs)
|
|
|
NM_033056.4(PCDH15):c.4408_4470dup (p.Ile1490_Glu1491insAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIle)
|
|
|
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4410C>T (p.Asn1470=)
|
rs750771419
|
|
NM_033056.4(PCDH15):c.4410_4413dup (p.Val1472fs)
|
|
|
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs)
|
rs767621707
|
|
NM_033056.4(PCDH15):c.4411_4412dup (p.Val1472fs)
|
rs2132512042
|
|
NM_033056.4(PCDH15):c.4415del (p.Val1472fs)
|
|
|
NM_033056.4(PCDH15):c.4416C>T (p.Val1472=)
|
|
|
NM_033056.4(PCDH15):c.4419A>G (p.Ser1473=)
|
|
|
NM_033056.4(PCDH15):c.4422A>G (p.Glu1474=)
|
rs779162594
|
|
NM_033056.4(PCDH15):c.4429A>C (p.Lys1477Gln)
|
rs2132511638
|
|
NM_033056.4(PCDH15):c.4437A>G (p.Gln1479=)
|
rs141623033
|
|
NM_033056.4(PCDH15):c.4437_4452dup (p.Phe1485fs)
|
|
|
NM_033056.4(PCDH15):c.4461C>T (p.Ser1487=)
|
rs2132511167
|
|
NM_033056.4(PCDH15):c.4462_4468dup (p.Ile1490fs)
|
|
|
NM_033056.4(PCDH15):c.4462_4470dup (p.Ile1490_Glu1491insAsnThrIle)
|
|
|
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser)
|
rs201534861
|
|
NM_033056.4(PCDH15):c.4464T>C (p.Asn1488=)
|
rs1308744253
|
|
NM_033056.4(PCDH15):c.4466C>G (p.Thr1489Ser)
|
|
|
NM_033056.4(PCDH15):c.4467T>C (p.Thr1489=)
|
|
|
NM_033056.4(PCDH15):c.4482_4506dup (p.Lys1503delinsValSerSerCysArgArgIleThrTer)
|
|
|
NM_033056.4(PCDH15):c.4487C>T (p.Ala1496Val)
|
rs2076426919
|
|
NM_033056.4(PCDH15):c.4489_4508dup (p.Lys1503delinsAsnMetTer)
|
|
|
NM_033056.4(PCDH15):c.4494A>G (p.Val1498=)
|
rs2132510470
|
|
NM_033056.4(PCDH15):c.4498G>A (p.Gly1500Arg)
|
|
|
NM_033056.4(PCDH15):c.4503A>T (p.Ser1501=)
|
rs757624135
|
|
NM_033056.4(PCDH15):c.4504C>T (p.Leu1502Phe)
|
|
|
NM_033056.4(PCDH15):c.4513_4571del (p.Asn1505fs)
|
|
|
NM_033056.4(PCDH15):c.4523A>C (p.Lys1508Thr)
|
|
|
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs)
|
rs1554820966
|
|
NM_033056.4(PCDH15):c.4533A>G (p.Arg1511=)
|
rs2132509693
|
|
NM_033056.4(PCDH15):c.4536A>G (p.Lys1512=)
|
|
|
NM_033056.4(PCDH15):c.4536dup (p.Phe1513fs)
|
|
|
NM_033056.4(PCDH15):c.4539C>T (p.Phe1513=)
|
rs2132509488
|
|
NM_033056.4(PCDH15):c.4546_4565dup (p.Leu1522fs)
|
|
|
NM_033056.4(PCDH15):c.4548A>G (p.Leu1516=)
|
rs2132509375
|
|
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4550C>T (p.Ser1517Phe)
|
|
|
NM_033056.4(PCDH15):c.4551T>G (p.Ser1517=)
|
|
|
NM_033056.4(PCDH15):c.4552G>T (p.Asp1518Tyr)
|
|
|
NM_033056.4(PCDH15):c.4554T>C (p.Asp1518=)
|
|
|
NM_033056.4(PCDH15):c.4555G>A (p.Glu1519Lys)
|
rs2132509071
|
|
NM_033056.4(PCDH15):c.4557G>C (p.Glu1519Asp)
|
rs1469870284
|
|
NM_033056.4(PCDH15):c.4559del (p.Asp1520fs)
|
|
|
NM_033056.4(PCDH15):c.4560T>A (p.Asp1520Glu)
|
|
|
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.4566_4569dup (p.Ala1524fs)
|
rs2132508767
|
|
NM_033056.4(PCDH15):c.4581C>T (p.Pro1527=)
|
rs10825114
|
|
NM_033056.4(PCDH15):c.4583T>C (p.Leu1528Pro)
|
rs2132508490
|
|
NM_033056.4(PCDH15):c.4587T>C (p.Tyr1529=)
|
|
|
NM_033056.4(PCDH15):c.4591G>T (p.Glu1531Ter)
|
rs867154687
|
|
NM_033056.4(PCDH15):c.4596C>T (p.Asn1532=)
|
rs2076416258
|
|
NM_033056.4(PCDH15):c.4596_4599dup (p.Ser1534fs)
|
|
|
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer)
|
rs2132508266
|
|
NM_033056.4(PCDH15):c.4599A>C (p.Ile1533=)
|
|
|
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.4616A>T (p.Asn1539Ile)
|
rs780662896
|
|
NM_033056.4(PCDH15):c.4616_4647dup (p.Asp1550delinsIleGlnThrPheHisArgGluGlnIleLeuTer)
|
rs779857486
|
|
NM_033056.4(PCDH15):c.4617T>C (p.Asn1539=)
|
rs2132507782
|
|
NM_033056.4(PCDH15):c.4618T>A (p.Ser1540Thr)
|
|
|
NM_033056.4(PCDH15):c.4630_4631del (p.Gln1544fs)
|
|
|
NM_033056.4(PCDH15):c.4632del (p.Arg1545fs)
|
rs2132507580
|
|
NM_033056.4(PCDH15):c.4644dup (p.Val1549fs)
|
rs1564538809
|
|
NM_033056.4(PCDH15):c.4647A>T (p.Val1549=)
|
rs2132507343
|
|
NM_033056.4(PCDH15):c.4650C>T (p.Asp1550=)
|
rs2132507285
|
|
NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu)
|
rs765129268
|
|
NM_033056.4(PCDH15):c.4656T>C (p.Phe1552=)
|
rs2132507097
|
|
NM_033056.4(PCDH15):c.4662C>G (p.Pro1554=)
|
|
|
NM_033056.4(PCDH15):c.4667T>C (p.Ile1556Thr)
|
|
|
NM_033056.4(PCDH15):c.4679G>C (p.Ser1560Thr)
|
|
|
NM_033056.4(PCDH15):c.4680T>C (p.Ser1560=)
|
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
NM_033056.4(PCDH15):c.4685_4688dup (p.Arg1564fs)
|
rs1346160987
|
|
NM_033056.4(PCDH15):c.4686T>G (p.Ser1562=)
|
|
|
NM_033056.4(PCDH15):c.4689G>C (p.Leu1563=)
|
rs2132506535
|
|
NM_033056.4(PCDH15):c.4689G>T (p.Leu1563=)
|
|
|
NM_033056.4(PCDH15):c.4693G>A (p.Gly1565Ser)
|
|
|
NM_033056.4(PCDH15):c.4700_4728dup (p.Ser1577fs)
|
|
|
NM_033056.4(PCDH15):c.4701A>G (p.Arg1567=)
|
rs2132506199
|
|
NM_033056.4(PCDH15):c.4703A>G (p.Glu1568Gly)
|
|
|
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs)
|
rs1554820749
|
|
NM_033056.4(PCDH15):c.4716G>A (p.Arg1572=)
|
rs2132505993
|
|
NM_033056.4(PCDH15):c.4719G>T (p.Leu1573=)
|
rs529962978
|
|
NM_033056.4(PCDH15):c.4721G>A (p.Trp1574Ter)
|
|
|
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=)
|
rs1564538186
|
|
NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal)
|
rs2076402324
|
|
NM_033056.4(PCDH15):c.4729_4736del (p.Ser1577fs)
|
|
|
NM_033056.4(PCDH15):c.4731A>G (p.Ser1577=)
|
rs2132505619
|
|
NM_033056.4(PCDH15):c.4733_4734delinsCT (p.Val1578Ala)
|
rs1588938389
|
|
NM_033056.4(PCDH15):c.4733_4736del (p.Val1578fs)
|
|
|
NM_033056.4(PCDH15):c.4736G>A (p.Ser1579Asn)
|
|
|
NM_033056.4(PCDH15):c.4738_4816del (p.Leu1580fs)
|
|
|
NM_033056.4(PCDH15):c.4740A>G (p.Leu1580=)
|
|
|
NM_033056.4(PCDH15):c.4761A>G (p.Lys1587=)
|
rs2076400191
|
|
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer)
|
rs1554820690
|
|
NM_033056.4(PCDH15):c.4775C>T (p.Pro1592Leu)
|
rs2132504706
|
|
NM_033056.4(PCDH15):c.4782C>T (p.Ile1594=)
|
|
|
NM_033056.4(PCDH15):c.4791G>A (p.Leu1597=)
|
|
|
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter)
|
rs1554820663
|
|
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=)
|
rs372440971
|
|
NM_033056.4(PCDH15):c.4797G>C (p.Gln1599His)
|
rs563147370
|
|
NM_033056.4(PCDH15):c.4806C>A (p.Gly1602=)
|
|
|
NM_033056.4(PCDH15):c.4810A>C (p.Arg1604=)
|
rs558224212
|
|
NM_033056.4(PCDH15):c.4812G>A (p.Arg1604=)
|
|
|
NM_033056.4(PCDH15):c.4821T>C (p.Ala1607=)
|
|
|
NM_033056.4(PCDH15):c.4827T>C (p.Asn1609=)
|
rs750801092
|
|
NM_033056.4(PCDH15):c.4830A>G (p.Glu1610=)
|
|
|
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)
|
rs545191822
|
|
NM_033056.4(PCDH15):c.4835C>G (p.Thr1612Ser)
|
rs1395111195
|
|
NM_033056.4(PCDH15):c.4836T>G (p.Thr1612=)
|
|
|
NM_033056.4(PCDH15):c.4836_4837del (p.Gly1613fs)
|
rs2132503591
|
|
NM_033056.4(PCDH15):c.4840A>C (p.Ile1614Leu)
|
rs2132503430
|
|
NM_033056.4(PCDH15):c.4840dup (p.Ile1614fs)
|
rs2132503466
|
|
NM_033056.4(PCDH15):c.4844G>A (p.Cys1615Tyr)
|
|
|
NM_033056.4(PCDH15):c.4847C>T (p.Thr1616Ile)
|
|
|
NM_033056.4(PCDH15):c.4851_4854dup (p.Arg1619fs)
|
rs778355226
|
|
NM_033056.4(PCDH15):c.4854_4857dup (p.Gly1620fs)
|
|
|
NM_033056.4(PCDH15):c.4866C>T (p.Ser1622=)
|
rs2076390429
|
|
NM_033056.4(PCDH15):c.4869T>C (p.Asn1623=)
|
rs1468408352
|
|
NM_033056.4(PCDH15):c.4872A>G (p.Pro1624=)
|
rs2132502770
|
|
NM_033056.4(PCDH15):c.4872A>T (p.Pro1624=)
|
rs2132502770
|
|
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs)
|
rs1240582095
|
|
NM_033056.4(PCDH15):c.4878T>G (p.Leu1626=)
|
rs2132502701
|
|
NM_033056.4(PCDH15):c.4881A>C (p.Thr1627=)
|
rs1588936896
|
|
NM_033056.4(PCDH15):c.4887A>G (p.Glu1629=)
|
|
|
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr)
|
rs1554820541
|
|
NM_033056.4(PCDH15):c.4895_4923del (p.Asn1632fs)
|
rs2132501592
|
|
NM_033056.4(PCDH15):c.4897T>C (p.Leu1633=)
|
rs952697934
|
|
NM_033056.4(PCDH15):c.4897_4909dup (p.Glu1637fs)
|
|
|
NM_033056.4(PCDH15):c.4899G>A (p.Leu1633=)
|
rs1468084834
|
|
NM_033056.4(PCDH15):c.4901_4902insGAGGCAATCCATTGCTTACAACTGA (p.Thr1634_Glu1635insArgGlnSerIleAlaTyrAsnTer)
|
|
|
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
|
|
|
NM_033056.4(PCDH15):c.4905G>C (p.Glu1635Asp)
|
|
|
NM_033056.4(PCDH15):c.4905G>T (p.Glu1635Asp)
|
rs760232069
|
|
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.4907_4910dup (p.Glu1638fs)
|
|
|
NM_033056.4(PCDH15):c.4908A>G (p.Lys1636=)
|
rs2132501946
|
|
NM_033056.4(PCDH15):c.4915A>G (p.Ile1639Val)
|
|
|
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs)
|
rs780945310
|
|
NM_033056.4(PCDH15):c.4920G>A (p.Arg1640=)
|
|
|
NM_033056.4(PCDH15):c.4920G>T (p.Arg1640Ser)
|
rs2132501686
|
|
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter)
|
rs1484672299
|
|
NM_033056.4(PCDH15):c.4923del (p.Gly1642fs)
|
rs756807938
|
|
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup)
|
rs758259410
|
|
NM_033056.4(PCDH15):c.4929_4932dup (p.Leu1645fs)
|
|
|
NM_033056.4(PCDH15):c.4935G>T (p.Leu1645=)
|
|
|
NM_033056.4(PCDH15):c.4941_4944del (p.Ile1647fs)
|
rs2132500986
|
|
NM_033056.4(PCDH15):c.4944A>C (p.Glu1648Asp)
|
rs2132500951
|
|
NM_033056.4(PCDH15):c.4945G>T (p.Gly1649Ter)
|
rs777414603
|
|
NM_033056.4(PCDH15):c.4946del (p.Gly1649fs)
|
|
|
NM_033056.4(PCDH15):c.4954C>T (p.Gln1652Ter)
|
|
|
NM_033056.4(PCDH15):c.4964C>G (p.Ser1655Cys)
|
|
|
NM_033056.4(PCDH15):c.4965T>C (p.Ser1655=)
|
|
|
NM_033056.4(PCDH15):c.4965T>G (p.Ser1655=)
|
rs1007918323
|
|
NM_033056.4(PCDH15):c.4968_4971del (p.Ser1657fs)
|
rs1491078644
|
|
NM_033056.4(PCDH15):c.4970C>T (p.Ser1657Phe)
|
rs2132500236
|
|
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs)
|
rs1491078644
|
|
NM_033056.4(PCDH15):c.4971T>A (p.Ser1657=)
|
rs1564536472
|
|
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter)
|
rs902963615
|
|
NM_033056.4(PCDH15):c.4974A>T (p.Ser1658=)
|
rs147993163
|
|
NM_033056.4(PCDH15):c.4975_4976del (p.Asp1659fs)
|
rs776857646
|
|
NM_033056.4(PCDH15):c.4978T>C (p.Ser1660Pro)
|
|
|
NM_033056.4(PCDH15):c.4980T>C (p.Ser1660=)
|
rs2132499824
|
|
NM_033056.4(PCDH15):c.4983A>G (p.Ser1661=)
|
rs1231967235
|
|
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs)
|
rs1554820394
|
|
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs)
|
rs775238614
|
|
NM_033056.4(PCDH15):c.4989C>T (p.Cys1663=)
|
rs2132499636
|
|
NM_033056.4(PCDH15):c.4995C>G (p.Pro1665=)
|
|
|
NM_033056.4(PCDH15):c.5007C>T (p.Phe1669=)
|
rs2132499389
|
|
NM_033056.4(PCDH15):c.5009C>A (p.Ser1670Ter)
|
|
|
NM_033056.4(PCDH15):c.5010_5015del (p.1669FS[1])
|
rs766452153
|
|
NM_033056.4(PCDH15):c.5016C>T (p.Ser1672=)
|
rs2132499146
|
|
NM_033056.4(PCDH15):c.5020_5042dup (p.Glu1682fs)
|
|
|
NM_033056.4(PCDH15):c.5021T>A (p.Leu1674Ter)
|
|
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902
|
|
NM_033056.4(PCDH15):c.5033C>G (p.Ser1678Ter)
|
|
|
NM_033056.4(PCDH15):c.5039del (p.Thr1680fs)
|
rs2132498817
|
|
NM_033056.4(PCDH15):c.5046del (p.Glu1682fs)
|
|
|
NM_033056.4(PCDH15):c.5049C>T (p.Leu1683=)
|
|
|
NM_033056.4(PCDH15):c.5052_5055dup (p.Glu1686fs)
|
rs2132498513
|
|
NM_033056.4(PCDH15):c.5053T>C (p.Ser1685Pro)
|
|
|
NM_033056.4(PCDH15):c.5054C>G (p.Ser1685Ter)
|
|
|
NM_033056.4(PCDH15):c.5055A>G (p.Ser1685=)
|
rs773237139
|
|
NM_033056.4(PCDH15):c.5061T>C (p.Pro1687=)
|
|
|
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter)
|
rs1554820318
|
|
NM_033056.4(PCDH15):c.5064T>C (p.Asn1688=)
|
|
|
NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup)
|
rs772692454
|
|
NM_033056.4(PCDH15):c.5072G>C (p.Ser1691Thr)
|
rs1048667609
|
|
NM_033056.4(PCDH15):c.5075C>T (p.Ser1692Phe)
|
|
|
NM_033056.4(PCDH15):c.5076T>C (p.Ser1692=)
|
rs780860319
|
|
NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del)
|
rs2076368967
|
|
NM_033056.4(PCDH15):c.5079T>C (p.Pro1693=)
|
|
|
NM_033056.4(PCDH15):c.5084A>C (p.Glu1695Ala)
|
|
|
NM_033056.4(PCDH15):c.5086T>G (p.Cys1696Gly)
|
|
|
NM_033056.4(PCDH15):c.5091C>T (p.Ser1697=)
|
rs2132497687
|
|
NM_033056.4(PCDH15):c.5092T>C (p.Leu1698=)
|
|
|
NM_033056.4(PCDH15):c.5094_5137dup (p.Ser1713fs)
|
|
|
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs)
|
rs918473867
|
|
NM_033056.4(PCDH15):c.5108C>T (p.Ser1703Leu)
|
rs2132497440
|
|
NM_033056.4(PCDH15):c.5118T>A (p.Cys1706Ter)
|
rs1171529835
|
|
NM_033056.4(PCDH15):c.5125C>T (p.His1709Tyr)
|
|
|
NM_033056.4(PCDH15):c.5133A>G (p.Ser1711=)
|
|
|
NM_033056.4(PCDH15):c.5136C>T (p.Leu1712=)
|
|
|
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer)
|
rs1554820255
|
|
NM_033056.4(PCDH15):c.5138C>G (p.Ser1713Cys)
|
|
|
NM_033056.4(PCDH15):c.5138_5139del (p.Leu1712_Ser1713insTer)
|
|
|
NM_033056.4(PCDH15):c.5141G>A (p.Arg1714Lys)
|
|
|
NM_033056.4(PCDH15):c.5145A>G (p.Arg1715=)
|
rs2132496687
|
|
NM_033056.4(PCDH15):c.5148_5149del (p.Glu1716fs)
|
|
|
NM_033056.4(PCDH15):c.5151A>C (p.Thr1717=)
|
rs2076362718
|
|
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser)
|
rs1194313858
|
|
NM_033056.4(PCDH15):c.5155A>G (p.Ile1719Val)
|
rs2076362442
|
|
NM_033056.4(PCDH15):c.5155_5158dup (p.Cys1720fs)
|
rs2132496410
|
|
NM_033056.4(PCDH15):c.5159G>T (p.Cys1720Phe)
|
|
|
NM_033056.4(PCDH15):c.5160T>C (p.Cys1720=)
|
|
|
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile)
|
rs772619593
|
|
NM_033056.4(PCDH15):c.5183G>T (p.Arg1728Ile)
|
|
|
NM_033056.4(PCDH15):c.5193T>C (p.Phe1731=)
|
|
|
NM_033056.4(PCDH15):c.5201T>C (p.Phe1734Ser)
|
|
|
NM_033056.4(PCDH15):c.5206C>T (p.His1736Tyr)
|
|
|
NM_033056.4(PCDH15):c.5207_5249dup (p.Pro1751fs)
|
|
|
NM_033056.4(PCDH15):c.5214A>G (p.Pro1738=)
|
rs2132495405
|
|
NM_033056.4(PCDH15):c.5215_5218dup (p.Ile1740fs)
|
rs2076357685
|
|
NM_033056.4(PCDH15):c.5217C>T (p.Asn1739=)
|
rs2132495315
|
|
NM_033056.4(PCDH15):c.5220C>A (p.Ile1740=)
|
rs2132495229
|
|
NM_033056.4(PCDH15):c.5220del (p.Ser1741fs)
|
|
|
NM_033056.4(PCDH15):c.5223T>A (p.Ser1741=)
|
rs560837504
|
|
NM_033056.4(PCDH15):c.5223T>C (p.Ser1741=)
|
rs560837504
|
|
NM_033056.4(PCDH15):c.5223T>G (p.Ser1741=)
|
rs560837504
|
|
NM_033056.4(PCDH15):c.5225_5345dup (p.Ser1782_Pro1783insPheCysLeuSerProSerProSerSerSerTyrPheSerSerPheSerSerSerCysSerCysSerSerCysSerSerSerTer)
|
|
|
NM_033056.4(PCDH15):c.5227del (p.Ser1743fs)
|
rs2132495057
|
|
NM_033056.4(PCDH15):c.5230_5294dup (p.Ala1766fs)
|
rs2132492597
|
|
NM_033056.4(PCDH15):c.5241_5247del (p.Pro1748fs)
|
rs2132494699
|
|
NM_033056.4(PCDH15):c.5245CCT[2] (p.Pro1751_Pro1752del)
|
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5245CCT[5] (p.Pro1752_Ile1753insPro)
|
|
|
NM_033056.4(PCDH15):c.5247del (p.Pro1750fs)
|
|
|
NM_033056.4(PCDH15):c.5249C>T (p.Pro1750Leu)
|
rs2076355044
|
|
NM_033056.4(PCDH15):c.5252_5256del (p.Pro1751fs)
|
rs2132494435
|
|
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del)
|
rs767526540
|
|
NM_033056.4(PCDH15):c.5257_5260dup (p.Ser1754fs)
|
rs2132494288
|
|
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del)
|
rs1554820140
|
|
NM_033056.4(PCDH15):c.5257_5268del (p.Ile1753_Pro1756del)
|
rs756858099
|
|
NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del)
|
rs777129729
|
|
NM_033056.4(PCDH15):c.5257_5274del (p.Ile1753_Pro1758del)
|
rs369404101
|
|
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del)
|
rs752658191
|
|
NM_033056.4(PCDH15):c.5257_5280del (p.Ile1753_Pro1760del)
|
|
|
NM_033056.4(PCDH15):c.5257_5286del (p.Ile1753_Pro1762del)
|
|
|
NM_033056.4(PCDH15):c.5259_5271dup (p.Pro1758fs)
|
|
|
NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1])
|
rs727503363
|
|
NM_033056.4(PCDH15):c.5263CCT[1] (p.Pro1756del)
|
|
|
NM_033056.4(PCDH15):c.5265T>G (p.Pro1755=)
|
rs2132494117
|
|
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del)
|
rs1554820050
|
|
NM_033056.4(PCDH15):c.5269_5274del (p.Ser1757_Pro1758del)
|
rs1564534452
|
|
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)
|
rs397517463
|
|
NM_033056.4(PCDH15):c.5270C>T (p.Ser1757Phe)
|
rs2076351421
|
|
NM_033056.4(PCDH15):c.5271T>C (p.Ser1757=)
|
rs2132493680
|
|
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272_5355del (p.Pro1758_Ser1785del)
|
|
|
NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del)
|
rs761936890
|
|
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)
|
rs373916538
|
|
NM_033056.4(PCDH15):c.5280T>G (p.Pro1760=)
|
rs557685402
|
|
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del)
|
rs1554820012
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5281_5283del (p.Ala1761del)
|
rs2132493064
|
|
NM_033056.4(PCDH15):c.5281_5292del (p.Ala1761_Pro1764del)
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5282_5308del (p.Ala1761_Pro1769del)
|
|
|
NM_033056.4(PCDH15):c.5283T>G (p.Ala1761=)
|
rs375134176
|
|
NM_033056.4(PCDH15):c.5287G>C (p.Ala1763Pro)
|
rs1020000476
|
|
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)
|
rs770671117
|
|
NM_033056.4(PCDH15):c.5290_5295del (p.Pro1764_Leu1765del)
|
rs1191526555
|
|
NM_033056.4(PCDH15):c.5291C>T (p.Pro1764Leu)
|
|
|
NM_033056.4(PCDH15):c.5292T>A (p.Pro1764=)
|
|
|
NM_033056.4(PCDH15):c.5294T>A (p.Leu1765His)
|
rs1564534077
|
|
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5297C>T (p.Ala1766Val)
|
|
|
NM_033056.4(PCDH15):c.5304T>G (p.Pro1768=)
|
|
|
NM_033056.4(PCDH15):c.5307_5342del (p.Asp1770_Pro1781del)
|
|
|
NM_033056.4(PCDH15):c.5310C>T (p.Asp1770=)
|
rs2132491943
|
|
NM_033056.4(PCDH15):c.5323T>C (p.Ser1775Pro)
|
|
|
NM_033056.4(PCDH15):c.5323del (p.Ser1775fs)
|
rs2132491717
|
|
NM_033056.4(PCDH15):c.5325_5332del (p.Leu1776fs)
|
|
|
NM_033056.4(PCDH15):c.5326C>T (p.Leu1776Phe)
|
|
|
NM_033056.4(PCDH15):c.5326_5327del (p.Leu1776fs)
|
|
|
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
|
rs397517467
|
|
NM_033056.4(PCDH15):c.5332del (p.Cys1778fs)
|
rs1338600699
|
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699
|
|
NM_033056.4(PCDH15):c.5333del (p.Cys1778fs)
|
rs2132491455
|
|
NM_033056.4(PCDH15):c.5334TCC[2] (p.Pro1781del)
|
rs928313592
|
|
NM_033056.4(PCDH15):c.5338C>A (p.Pro1780Thr)
|
|
|
NM_033056.4(PCDH15):c.5340T>A (p.Pro1780=)
|
|
|
NM_033056.4(PCDH15):c.5341C>T (p.Pro1781Ser)
|
|
|
NM_033056.4(PCDH15):c.5343_5351del (p.1780PPS[1])
|
rs2076338069
|
|
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs)
|
rs1554820009
|
|
NM_033056.4(PCDH15):c.5347CCT[1] (p.Pro1784del)
|
rs778824364
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5349_5365del (p.Pro1784fs)
|
|
|
NM_033056.4(PCDH15):c.5351C>A (p.Pro1784His)
|
|
|
NM_033056.4(PCDH15):c.5353_5355del (p.Ser1785del)
|
rs2132490441
|
|
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs)
|
rs1554819970
|
|
NM_033056.4(PCDH15):c.5355_5371del (p.Ile1786fs)
|
|
|
NM_033056.4(PCDH15):c.5358C>T (p.Ile1786=)
|
rs727503361
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
|
rs779691085
|
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225
|
|
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del)
|
rs978342737
|
|
NM_033056.4(PCDH15):c.5375C>G (p.Pro1792Arg)
|
rs374325488
|
|
NM_033056.4(PCDH15):c.5379T>C (p.Pro1793=)
|
|
|
NM_033056.4(PCDH15):c.5379_5381del (p.Thr1794del)
|
rs750633152
|
|
NM_033056.4(PCDH15):c.5382A>G (p.Thr1794=)
|
rs1196821931
|
|
NM_033056.4(PCDH15):c.5388del (p.Pro1797fs)
|
rs1554819925
|
|
NM_033056.4(PCDH15):c.5405C>T (p.Thr1802Met)
|
|
|
NM_033056.4(PCDH15):c.5406G>A (p.Thr1802=)
|
rs534255804
|
|
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=)
|
rs534255804
|
|
NM_033056.4(PCDH15):c.5411G>T (p.Gly1804Val)
|
|
|
NM_033056.4(PCDH15):c.5415C>T (p.Pro1805=)
|
rs2132488606
|
|
NM_033056.4(PCDH15):c.5420C>A (p.Thr1807Lys)
|
rs2076328131
|
|
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=)
|
rs753289924
|
|
NM_033056.4(PCDH15):c.5424A>G (p.Pro1808=)
|
rs753289924
|
|
NM_033056.4(PCDH15):c.5429T>G (p.Leu1810Arg)
|
rs1299654125
|
|
NM_033056.4(PCDH15):c.5432T>C (p.Leu1811Pro)
|
|
|
NM_033056.4(PCDH15):c.5433A>G (p.Leu1811=)
|
rs2132488162
|
|
NM_033056.4(PCDH15):c.5446A>C (p.Thr1816Pro)
|
|
|
NM_033056.4(PCDH15):c.5451T>C (p.Pro1817=)
|
rs2132487761
|
|
NM_033056.4(PCDH15):c.5452C>T (p.Leu1818Phe)
|
|
|
NM_033056.4(PCDH15):c.5454T>C (p.Leu1818=)
|
|
|
NM_033056.4(PCDH15):c.5460A>G (p.Pro1820=)
|
|
|
NM_033056.4(PCDH15):c.5463A>G (p.Pro1821=)
|
|
|
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del)
|
rs1554819787
|
|
NM_033056.4(PCDH15):c.5469T>G (p.Pro1823=)
|
rs1178030804
|
|
NM_033056.4(PCDH15):c.5472T>C (p.Ser1824=)
|
rs2132487334
|
|
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del)
|
rs763534924
|
|
NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe)
|
rs776844300
|
|
NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter)
|
|
|
NM_033056.4(PCDH15):c.5481C>T (p.Cys1827=)
|
rs1588927571
|
|
NM_033056.4(PCDH15):c.5483C>T (p.Pro1828Leu)
|
|
|
NM_033056.4(PCDH15):c.5486del (p.Pro1829fs)
|
rs1564532058
|
|
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs)
|
rs1554819767
|
|
NM_033056.4(PCDH15):c.5514A>G (p.Thr1838=)
|
rs2132486411
|
|
NM_033056.4(PCDH15):c.5516_5517del (p.Glu1839fs)
|
rs1564531908
|
|
NM_033056.4(PCDH15):c.5516_5519del (p.Glu1839fs)
|
|
|
NM_033056.4(PCDH15):c.5517G>A (p.Glu1839=)
|
rs2132486345
|
|
NM_033056.4(PCDH15):c.5523_5526dup (p.Ile1843fs)
|
rs1564531800
|
|
NM_033056.4(PCDH15):c.5532A>C (p.Thr1844=)
|
|
|
NM_033056.4(PCDH15):c.5533G>C (p.Gly1845Arg)
|
|
|
NM_033056.4(PCDH15):c.5546C>T (p.Thr1849Met)
|
|
|
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=)
|
rs767304005
|
|
NM_033056.4(PCDH15):c.5549C>T (p.Thr1850Ile)
|
rs2076316565
|
|
NM_033056.4(PCDH15):c.5553C>T (p.Asn1851=)
|
|
|
NM_033056.4(PCDH15):c.5554T>C (p.Leu1852=)
|
|
|
NM_033056.4(PCDH15):c.5557A>T (p.Met1853Leu)
|
rs145903555
|
|
NM_033056.4(PCDH15):c.5558T>C (p.Met1853Thr)
|
|
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445
|
|
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter)
|
rs371269732
|
|
NM_033056.4(PCDH15):c.5572A>G (p.Ile1858Val)
|
rs2076314128
|
|
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
|
rs770082088
|
|
NM_033056.4(PCDH15):c.5574T>C (p.Ile1858=)
|
|
|
NM_033056.4(PCDH15):c.5577G>A (p.Lys1859=)
|
|
|
NM_033056.4(PCDH15):c.5580C>A (p.Ser1860=)
|
rs1310758503
|
|
NM_033056.4(PCDH15):c.5580C>T (p.Ser1860=)
|
rs1310758503
|
|
NM_033056.4(PCDH15):c.5584A>G (p.Met1862Val)
|
|
|
NM_033056.4(PCDH15):c.5592_5605dup (p.Thr1869fs)
|
rs1432657780
|
|
NM_033056.4(PCDH15):c.5593C>T (p.Leu1865=)
|
|
|
NM_033056.4(PCDH15):c.5597C>G (p.Ser1866Ter)
|
rs2076312170
|
|
NM_033056.4(PCDH15):c.5598A>G (p.Ser1866=)
|
rs1564531423
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala)
|
rs1420803454
|
|
NM_033056.4(PCDH15):c.5599A>T (p.Thr1867Ser)
|
|
|
NM_033056.4(PCDH15):c.5601A>G (p.Thr1867=)
|
|
|
NM_033056.4(PCDH15):c.5616_5619dup (p.Asp1874fs)
|
|
|
NM_033056.4(PCDH15):c.5618_5637dup (p.Lys1880fs)
|
rs1347207661
|
|
NM_033056.4(PCDH15):c.5619A>C (p.Thr1873=)
|
rs1326327098
|
|
NM_033056.4(PCDH15):c.5622C>T (p.Asp1874=)
|
|
|
NM_033056.4(PCDH15):c.5630G>A (p.Arg1877Lys)
|
|
|
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs)
|
rs794727570
|
|
NM_033056.4(PCDH15):c.5636C>A (p.Pro1879Gln)
|
|
|
NM_033056.4(PCDH15):c.5646C>T (p.Ile1882=)
|
rs1588925614
|
|
NM_033056.4(PCDH15):c.5649C>T (p.Leu1883=)
|
|
|
NM_033056.4(PCDH15):c.5659A>T (p.Lys1887Ter)
|
rs2076305143
|
|
NM_033056.4(PCDH15):c.5669_5671del (p.Ala1890del)
|
rs771643291
|
|
NM_033056.4(PCDH15):c.5673_5676dup (p.Glu1893delinsThrTer)
|
|
|
NM_033056.4(PCDH15):c.5673_5697dup (p.Tyr1900delinsThrTer)
|
|
|
NM_033056.4(PCDH15):c.5675T>A (p.Leu1892His)
|
rs2132483165
|
|
NM_033056.4(PCDH15):c.5680_5693dup (p.Asn1898delinsLysAsnGlnTer)
|
|
|
NM_033056.4(PCDH15):c.5683T>G (p.Ser1895Ala)
|
rs759950014
|
|
NM_033056.4(PCDH15):c.5691T>C (p.Ala1897=)
|
|
|
NM_033056.4(PCDH15):c.5692_5695dup (p.Met1899fs)
|
rs2132482863
|
|
NM_033056.4(PCDH15):c.5695A>G (p.Met1899Val)
|
rs1487220938
|
|
NM_033056.4(PCDH15):c.5697G>A (p.Met1899Ile)
|
rs771258779
|
|
NM_033056.4(PCDH15):c.5699dup (p.Tyr1900Ter)
|
|
|
NM_033056.4(PCDH15):c.5702_5705del (p.Ser1901fs)
|
|
|
NM_033056.4(PCDH15):c.5704C>T (p.Gln1902Ter)
|
rs1198625899
|
|
NM_033056.4(PCDH15):c.5706_5709dup (p.Glu1904fs)
|
rs2132482473
|
|
NM_033056.4(PCDH15):c.5708T>C (p.Ile1903Thr)
|
rs202223635
|
|
NM_033056.4(PCDH15):c.5710G>C (p.Glu1904Gln)
|
|
|
NM_033056.4(PCDH15):c.5714A>G (p.Lys1905Arg)
|
|
|
NM_033056.4(PCDH15):c.5715A>G (p.Lys1905=)
|
|
|
NM_033056.4(PCDH15):c.5715_5718del (p.Lys1905fs)
|
|
|
NM_033056.4(PCDH15):c.5716A>G (p.Asn1906Asp)
|
|
|
NM_033056.4(PCDH15):c.5716_5718del (p.Asn1906del)
|
|
|
NM_033056.4(PCDH15):c.5717del (p.Asn1906fs)
|
rs778380770
|
|
NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs)
|
rs778380770
|
|
NM_033056.4(PCDH15):c.5719dup (p.Tyr1907fs)
|
rs2132482108
|
|
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)
|
rs568470164
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu)
|
rs145851144
|
|
NM_033056.4(PCDH15):c.5727C>T (p.Arg1909=)
|
rs2132481863
|
|
NM_033056.4(PCDH15):c.5733T>C (p.Asn1911=)
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rs2076298772
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NM_033056.4(PCDH15):c.5741_5743dup (p.Glu1914_Leu1915insGln)
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NM_033056.4(PCDH15):c.5747A>G (p.Gln1916Arg)
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NM_033056.4(PCDH15):c.5753T>C (p.Met1918Thr)
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rs751609887
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NM_033056.4(PCDH15):c.5757C>A (p.Cys1919Ter)
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rs2076296857
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NM_033056.4(PCDH15):c.5757C>T (p.Cys1919=)
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NM_033056.4(PCDH15):c.5759C>G (p.Pro1920Arg)
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rs2076296562
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NM_033056.4(PCDH15):c.5761T>G (p.Ser1921Ala)
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rs200228833
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NM_033056.4(PCDH15):c.5762C>T (p.Ser1921Leu)
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rs2132481220
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NM_033056.4(PCDH15):c.5764del (p.Glu1922fs)
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NM_033056.4(PCDH15):c.5767_5781del (p.Val1923_Glu1927del)
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rs2132480966
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NM_033056.4(PCDH15):c.5771C>T (p.Thr1924Ile)
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NM_033056.4(PCDH15):c.5772A>T (p.Thr1924=)
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rs2132481049
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NM_033056.4(PCDH15):c.5798dup (p.Asn1933fs)
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NM_033056.4(PCDH15):c.5806_5809dup (p.Leu1937Ter)
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NM_033056.4(PCDH15):c.5806del (p.Ser1936fs)
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rs1554819493
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NM_033056.4(PCDH15):c.5814C>T (p.Asn1938=)
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NM_033056.4(PCDH15):c.5816A>T (p.Asn1939Ile)
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rs931395591
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NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup)
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rs750168790
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NM_033056.4(PCDH15):c.5821G>A (p.Val1941Ile)
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NM_033056.4(PCDH15):c.5823C>G (p.Val1941=)
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NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys)
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rs200913448
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NM_033056.4(PCDH15):c.5826G>A (p.Glu1942=)
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rs2076292138
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NM_033056.4(PCDH15):c.5827G>A (p.Gly1943Arg)
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NM_033056.4(PCDH15):c.5827G>T (p.Gly1943Ter)
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NM_033056.4(PCDH15):c.5831C>A (p.Thr1944Asn)
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NM_033056.4(PCDH15):c.5832T>C (p.Thr1944=)
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rs779724710
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NM_033056.4(PCDH15):c.5835A>G (p.Glu1945=)
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NM_033056.4(PCDH15):c.5843C>G (p.Ser1948Cys)
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NM_033056.4(PCDH15):c.5847C>T (p.His1949=)
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rs778841983
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NM_033056.4(PCDH15):c.5849G>C (p.Ser1950Thr)
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NM_033056.4(PCDH15):c.5849_5852del (p.Ser1950fs)
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rs757543551
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NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs)
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rs757543551
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NM_033056.4(PCDH15):c.5850T>A (p.Ser1950Arg)
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NM_033056.4(PCDH15):c.5854T>C (p.Ser1952Pro)
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NM_033056.4(PCDH15):c.5856T>G (p.Ser1952=)
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rs2132479533
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NM_033056.4(PCDH15):c.5859T>C (p.Thr1953=)
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NM_033056.4(PCDH15):c.5865G>A (p.Leu1955=)
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NM_033056.4(PCDH15):c.5865G>C (p.Leu1955=)
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rs2132479403
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NM_033056.4(PCDH15):c.5866T>G (p.Ter1956Glu)
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rs2132479377
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