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.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.4671+1114A>C
|
rs16937769
|
0.01163
|
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile)
|
rs61735473
|
0.00870
|
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.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_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.4671+1053A>C
|
rs149208928
|
0.00562
|
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=)
|
rs16937781
|
0.00558
|
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.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_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00423
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
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.3717+8G>C
|
rs200556301
|
0.00305
|
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)
|
rs148772706
|
0.00278
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00267
|
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.5286T>A (p.Pro1762=)
|
rs58461416
|
0.00220
|
NM_001384140.1(PCDH15):c.4671+16T>G
|
rs76528829
|
0.00210
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
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_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.4334C>G (p.Ala1445Gly)
|
rs146745502
|
0.00061
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_001384140.1(PCDH15):c.2513T>C (p.Ile838Thr)
|
rs201657445
|
0.00046
|
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=)
|
rs149481989
|
0.00043
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555
|
0.00020
|
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=)
|
rs146374856
|
0.00016
|
NM_001384140.1(PCDH15):c.2751+9T>C
|
rs180804907
|
0.00009
|
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=)
|
rs139873638
|
0.00006
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
0.00004
|
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=)
|
rs768200772
|
0.00001
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00001
|
GRCh37/hg19 10q21.1(chr10:55559110-55582905)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:55943184-55991753)x3
|
|
|
GRCh37/hg19 10q21.1(chr10:56047470-56170113)x3
|
|
|
GRCh37/hg19 10q21.1(chr10:56233117-56288866)x3
|
|
|
GRCh37/hg19 10q21.1(chr10:56286068-56288866)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
|
|
|
NM_001384140.1(PCDH15):c.*144GA[4]
|
rs149757971
|
|
NM_001384140.1(PCDH15):c.1099-10dup
|
|
|
NM_001384140.1(PCDH15):c.1099-20del
|
|
|
NM_001384140.1(PCDH15):c.1134T>G (p.Phe378Leu)
|
|
|
NM_001384140.1(PCDH15):c.1147A>G (p.Ile383Val)
|
|
|
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.1590+17_1590+21del
|
rs202125339
|
|
NM_001384140.1(PCDH15):c.1590+20A>G
|
rs7093302
|
|
NM_001384140.1(PCDH15):c.1590+239T>C
|
rs10082374
|
|
NM_001384140.1(PCDH15):c.1591-10dup
|
rs2044743282
|
|
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+246A>C
|
rs4272709
|
|
NM_001384140.1(PCDH15):c.1997+12del
|
|
|
NM_001384140.1(PCDH15):c.2092-8del
|
|
|
NM_001384140.1(PCDH15):c.2221-15dup
|
rs748865551
|
|
NM_001384140.1(PCDH15):c.2221-34G>A
|
rs57385317
|
|
NM_001384140.1(PCDH15):c.2527-260CT[9]
|
rs57852524
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.3010-14del
|
|
|
NM_001384140.1(PCDH15):c.318+16del
|
|
|
NM_001384140.1(PCDH15):c.3501+230G>C
|
rs77889682
|
|
NM_001384140.1(PCDH15):c.3502-133C>T
|
rs7904289
|
|
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.3502-22_3502-21dup
|
rs5785023
|
|
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.3718-31A>G
|
rs80143445
|
|
NM_001384140.1(PCDH15):c.3983+13dup
|
rs746916667
|
|
NM_001384140.1(PCDH15):c.3983+140_3983+141insAAC
|
rs10671958
|
|
NM_001384140.1(PCDH15):c.3984-170_3984-168del
|
rs10564877
|
|
NM_001384140.1(PCDH15):c.4202+129_4202+132del
|
rs59637951
|
|
NM_001384140.1(PCDH15):c.4211+318T>C
|
rs79302491
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4367+1986del
|
rs11331854
|
|
NM_001384140.1(PCDH15):c.4367+2122del
|
rs11331853
|
|
NM_001384140.1(PCDH15):c.4492-1191G>A
|
rs869312036
|
|
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
|
rs561144747
|
|
NM_001384140.1(PCDH15):c.4671+1344_4671+1345delinsCC
|
rs1554815737
|
|
NM_001384140.1(PCDH15):c.4671+747G>T
|
rs10763008
|
|
NM_001384140.1(PCDH15):c.4671+753T>A
|
rs10763007
|
|
NM_001384140.1(PCDH15):c.4728_4730dup (p.Thr1577dup)
|
rs143978284
|
|
NM_001384140.1(PCDH15):c.475-14dup
|
rs1157582942
|
|
NM_001384140.1(PCDH15):c.475-18A>T
|
|
|
NM_001384140.1(PCDH15):c.475-9del
|
rs1157582942
|
|
NM_001384140.1(PCDH15):c.47T>C (p.Ile16Thr)
|
|
|
NM_001384140.1(PCDH15):c.55T>A (p.Ser19Thr)
|
|
|
NM_001384140.1(PCDH15):c.706-266T>C
|
rs12240859
|
|
NM_001384140.1(PCDH15):c.877-5_877-4del
|
rs200395027
|
|
NM_001384140.1(PCDH15):c.986-208_986-205del
|
rs35744658
|
|
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.4831_4834dup (p.Thr1612fs)
|
rs545191822
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|