NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
0.00006
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
|
rs779165268
|
0.00002
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
NM_001384140.1(PCDH15):c.1305+2T>A
|
rs2049531217
|
0.00001
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+1G>T
|
rs982893820
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+1G>A
|
rs2085799827
|
0.00001
|
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)
|
rs1200451014
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-2A>G
|
rs1328440878
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
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
|
GRCh37/hg19 10q21.1(chr10:55581618-56288162)x6
|
|
|
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
|
|
|
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
|
|
|
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
|
|
|
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
|
|
|
NC_000010.10:g.(?_55616915)_(55626637_?)dup
|
|
|
NC_000010.10:g.(?_55662993)_(55663140_?)dup
|
|
|
NC_000010.10:g.(?_55755389)_(55892787_?)dup
|
|
|
NC_000010.10:g.(?_55849734)_(55996701_?)dup
|
|
|
NC_000010.10:g.(?_55892683)_(55893842_?)del
|
|
|
NC_000010.10:g.(?_55912850)_(55935851_?)dup
|
|
|
NC_000010.10:g.(?_55943194)_(55996701_?)del
|
|
|
NC_000010.10:g.(?_56077021)_(56138712_?)dup
|
|
|
NC_000010.11:g.(?_53976705)_(54036062_?)del
|
|
|
NC_000010.11:g.(?_54369110)_(54378952_?)dup
|
|
|
NC_000010.11:g.(?_54690788)_(54898513_?)del
|
|
|
NC_000010.11:g.53995649_54022892del
|
|
|
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
|
|
|
NM_001142763.1:c.-189197_c.610-5166del
|
|
|
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
|
|
|
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
|
|
|
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter)
|
rs2051720336
|
|
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
|
|
|
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
|
|
|
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476
|
|
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
|
|
|
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
|
|
|
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
|
|
|
NM_001384140.1(PCDH15):c.1305+1G>A
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1G>C
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1del
|
rs1554833699
|
|
NM_001384140.1(PCDH15):c.1305+2T>G
|
rs2049531217
|
|
NM_001384140.1(PCDH15):c.1306-1G>C
|
rs1299990309
|
|
NM_001384140.1(PCDH15):c.1306-1G>T
|
rs1299990309
|
|
NM_001384140.1(PCDH15):c.1306-2A>G
|
|
|
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
|
|
|
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
|
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
|
|
|
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
|
|
|
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
|
|
|
NM_001384140.1(PCDH15):c.1440+2T>C
|
rs1363688830
|
|
NM_001384140.1(PCDH15):c.1441-2A>C
|
rs758482449
|
|
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
|
|
|
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)
|
rs2133801342
|
|
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
|
|
|
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
|
|
|
NM_001384140.1(PCDH15):c.158-1G>T
|
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
NM_001384140.1(PCDH15):c.1590+1G>A
|
rs2133799697
|
|
NM_001384140.1(PCDH15):c.1591-2A>C
|
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer)
|
rs1554816541
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
|
|
|
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
|
|
|
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)
|
rs1264383341
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
|
|
|
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
|
|
|
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs)
|
rs1057517150
|
|
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
|
|
|
NM_001384140.1(PCDH15):c.1784+1G>T
|
|
|
NM_001384140.1(PCDH15):c.1784+1_1784+12del
|
rs2133336162
|
|
NM_001384140.1(PCDH15):c.1785-2A>C
|
rs1057516474
|
|
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
|
|
|
NM_001384140.1(PCDH15):c.1913_1917+8del
|
rs2133059770
|
|
NM_001384140.1(PCDH15):c.1917+1G>A
|
|
|
NM_001384140.1(PCDH15):c.1917+2T>C
|
rs1554806149
|
|
NM_001384140.1(PCDH15):c.1918-1G>A
|
|
|
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
|
rs2136049616
|
|
NM_001384140.1(PCDH15):c.1997+1G>T
|
rs763797356
|
|
NM_001384140.1(PCDH15):c.1998-1G>A
|
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625
|
|
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter)
|
rs1554956088
|
|
NM_001384140.1(PCDH15):c.2091+1G>A
|
rs2135947041
|
|
NM_001384140.1(PCDH15):c.2091+2T>C
|
rs1554956023
|
|
NM_001384140.1(PCDH15):c.2092-2A>G
|
|
|
NM_001384140.1(PCDH15):c.2092-482_2092del
|
|
|
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
|
|
|
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
|
|
|
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
|
|
|
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
|
|
|
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
|
|
|
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)
|
rs2094144044
|
|
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
|
|
|
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
|
|
|
NM_001384140.1(PCDH15):c.2220+1G>A
|
rs2094143468
|
|
NM_001384140.1(PCDH15):c.22_23delinsC (p.Trp8fs)
|
|
|
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)
|
rs2135322143
|
|
NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
|
|
|
NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
|
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
|
|
|
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
|
|
|
NM_001384140.1(PCDH15):c.2526+2T>C
|
rs2135319137
|
|
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
|
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
|
|
|
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
|
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter)
|
rs2091805733
|
|
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
|
|
|
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
|
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
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.2869-1G>A
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2869-1G>T
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
|
|
|
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)
|
rs2134302083
|
|
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
|
|
|
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
|
|
|
NM_001384140.1(PCDH15):c.299del (p.Gly100fs)
|
rs1554940316
|
|
NM_001384140.1(PCDH15):c.29del (p.Cys10fs)
|
rs1555135419
|
|
NM_001384140.1(PCDH15):c.3009+1G>C
|
|
|
NM_001384140.1(PCDH15):c.3009+1G>T
|
|
|
NM_001384140.1(PCDH15):c.3010-1G>C
|
rs2134277047
|
|
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs)
|
rs1057517284
|
|
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)
|
rs776416750
|
|
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
|
|
|
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)
|
rs1554882652
|
|
NM_001384140.1(PCDH15):c.3082del (p.His1028fs)
|
rs1057517325
|
|
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
|
|
|
NM_001384140.1(PCDH15):c.3122+1G>A
|
rs982893820
|
|
NM_001384140.1(PCDH15):c.3122+2T>A
|
rs1554882546
|
|
NM_001384140.1(PCDH15):c.3123-1G>A
|
rs1554873550
|
|
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
|
|
|
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
|
|
|
NM_001384140.1(PCDH15):c.318+1G>A
|
|
|
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
|
|
|
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs)
|
rs1057516974
|
|
NM_001384140.1(PCDH15):c.3232+1G>A
|
|
|
NM_001384140.1(PCDH15):c.3233-2A>G
|
rs1554872194
|
|
NM_001384140.1(PCDH15):c.323del (p.Pro108fs)
|
rs1554934073
|
|
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
|
|
|
NM_001384140.1(PCDH15):c.333dup (p.His112fs)
|
rs1057516992
|
|
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs)
|
rs1057516656
|
|
NM_001384140.1(PCDH15):c.3373+2T>C
|
|
|
NM_001384140.1(PCDH15):c.3374-1G>T
|
rs1554852472
|
|
NM_001384140.1(PCDH15):c.3374-2A>G
|
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
|
|
|
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
|
|
|
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs)
|
rs2133664431
|
|
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
|
|
|
NM_001384140.1(PCDH15):c.3501+1G>A
|
rs1402893508
|
|
NM_001384140.1(PCDH15):c.3501+1G>T
|
rs1402893508
|
|
NM_001384140.1(PCDH15):c.3501+2T>C
|
rs757418440
|
|
NM_001384140.1(PCDH15):c.3502-2A>G
|
rs1554836566
|
|
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
|
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
|
|
|
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
|
|
|
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
|
|
|
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
|
|
|
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs)
|
rs1057516268
|
|
NM_001384140.1(PCDH15):c.366del (p.Asn122fs)
|
rs1589072933
|
|
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.371_372delinsT (p.Lys124fs)
|
|
|
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs)
|
rs1554833314
|
|
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
|
|
|
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
|
|
|
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
|
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs)
|
rs1554833242
|
|
NM_001384140.1(PCDH15):c.3806+1G>C
|
rs1554833227
|
|
NM_001384140.1(PCDH15):c.3806+1G>T
|
|
|
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs)
|
rs1057516780
|
|
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
|
|
|
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
|
|
|
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
|
|
|
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
|
|
|
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>C
|
|
|
NM_001384140.1(PCDH15):c.3984-2A>G
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.3984-2A>T
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
|
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
|
|
|
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
|
|
|
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
|
|
|
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
|
|
|
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
|
|
|
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs)
|
rs1057517182
|
|
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu)
|
rs2134714388
|
|
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs)
|
rs1057516821
|
|
NM_001384140.1(PCDH15):c.4203-1G>A
|
rs2076841806
|
|
NM_001384140.1(PCDH15):c.4208_4209del (p.Lys1403fs)
|
rs2132598205
|
|
NM_001384140.1(PCDH15):c.4211+1G>A
|
rs1554823229
|
|
NM_001384140.1(PCDH15):c.4211+1G>T
|
|
|
NM_001384140.1(PCDH15):c.4211+1del
|
rs1554823231
|
|
NM_001384140.1(PCDH15):c.4211+2dup
|
rs1057517419
|
|
NM_001384140.1(PCDH15):c.4212-1G>A
|
rs2132580888
|
|
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
|
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)
|
rs1554822897
|
|
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs)
|
rs1554822891
|
|
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs)
|
rs1057516351
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384140.1(PCDH15):c.4367+2251G>A
|
|
|
NM_001384140.1(PCDH15):c.4367+2T>C
|
rs1554822703
|
|
NM_001384140.1(PCDH15):c.4367+2dup
|
|
|
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
|
|
|
NM_001384140.1(PCDH15):c.475-2204_594+1766del
|
|
|
NM_001384140.1(PCDH15):c.475-2A>C
|
|
|
NM_001384140.1(PCDH15):c.475-2A>G
|
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter)
|
rs1943288780
|
|
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)
|
rs1943286459
|
|
NM_001384140.1(PCDH15):c.594+1G>T
|
rs1057516470
|
|
NM_001384140.1(PCDH15):c.595-2A>C
|
rs1939028166
|
|
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
|
|
|
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter)
|
rs1554903979
|
|
NM_001384140.1(PCDH15):c.705+1G>A
|
rs1554903842
|
|
NM_001384140.1(PCDH15):c.705+5G>A
|
|
|
NM_001384140.1(PCDH15):c.706-2A>G
|
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
|
|
|
NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs)
|
rs2133652254
|
|
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln)
|
rs1564949059
|
|
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
|
|
|
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
|
|
|
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)
|
rs903145299
|
|
NM_001384140.1(PCDH15):c.876+1G>C
|
rs2133646979
|
|
NM_001384140.1(PCDH15):c.876+2T>C
|
|
|
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048
|
|
NM_001384140.1(PCDH15):c.91+1G>A
|
rs1565887701
|
|
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
|
|
|
NM_001384140.1(PCDH15):c.985+1G>C
|
rs2134387647
|
|
NM_033056.4(PCDH15):c.4368-15_4368-2del
|
rs1057516560
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4368-3_4369dup
|
rs866966373
|
|
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs)
|
rs35296328
|
|
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs)
|
rs771473483
|
|
NM_033056.4(PCDH15):c.4632del (p.Arg1545fs)
|
rs2132507580
|
|
NM_033056.4(PCDH15):c.4733_4736del (p.Val1578fs)
|
|
|
NM_033056.4(PCDH15):c.4851_4854del (p.Asn1617fs)
|
|
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902
|
|
NM_033056.4(PCDH15):c.5052_5055dup (p.Glu1686fs)
|
rs2132498513
|
|
NM_033056.4(PCDH15):c.5054C>G (p.Ser1685Ter)
|
|
|
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del)
|
rs767526540
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225
|
|
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
|
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_033056.4(PCDH15):c.5847_5848del (p.His1949fs)
|
rs781339303
|
|