NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
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.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
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_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs)
|
rs763882874
|
0.00002
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
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.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
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.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.4240C>T (p.Arg1414Ter)
|
rs1421575182
|
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.4403_4418dup (p.Ser1473_Glu1474insLysTer)
|
rs1326692199
|
0.00001
|
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer)
|
rs746017823
|
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(chr10:54976143-55915352)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:55468897-55645953)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:55938132-56040206)x1
|
|
|
GRCh37/hg19 10q21.1(chr10:55942657-56054330)x1
|
|
|
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.(?_55616915)_(55626637_?)del
|
|
|
NC_000010.10:g.(?_55616925)_(55782967_?)del
|
|
|
NC_000010.10:g.(?_55616925)_(55996701_?)del
|
|
|
NC_000010.10:g.(?_55698565)_(55700745_?)del
|
|
|
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.(?_55849744)_(55955649_?)del
|
|
|
NC_000010.10:g.(?_55892625)_(55892777_?)del
|
|
|
NC_000010.10:g.(?_55912840)_(55913073_?)dup
|
|
|
NC_000010.10:g.(?_55912850)_(56138712_?)del
|
|
|
NC_000010.10:g.(?_55973686)_(55973818_?)del
|
|
|
NC_000010.10:g.(?_55996563)_(56089486_?)del
|
|
|
NC_000010.10:g.(?_56077031)_(56106244_?)del
|
|
|
NC_000010.10:g.(?_56106115)_(56106254_?)del
|
|
|
NC_000010.10:g.(?_56287562)_(56288172_?)del
|
|
|
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.(?_54183434)_(54189394_?)del
|
|
|
NC_000010.11:g.(?_54346355)_(54378952_?)dup
|
|
|
NC_000010.11:g.(?_54369120)_(54378942_?)del
|
|
|
NC_000010.11:g.(?_54527802)_(54664272_?)del
|
|
|
NM_001384140.1(PCDH15):c.1001dup (p.Tyr334Ter)
|
|
|
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter)
|
rs2051720336
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.10C>T (p.Gln4Ter)
|
|
|
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476
|
|
NM_001384140.1(PCDH15):c.1175del (p.Ser392fs)
|
rs2133924837
|
|
NM_001384140.1(PCDH15):c.1194del (p.Ser399fs)
|
|
|
NM_001384140.1(PCDH15):c.1201C>T (p.Gln401Ter)
|
|
|
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
NM_001384140.1(PCDH15):c.1313del (p.Asp438fs)
|
rs2133818635
|
|
NM_001384140.1(PCDH15):c.1343_1350del (p.Tyr448fs)
|
rs2048383082
|
|
NM_001384140.1(PCDH15):c.1357_1358del (p.Thr453fs)
|
rs2133818115
|
|
NM_001384140.1(PCDH15):c.1387_1396del (p.Leu463fs)
|
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)
|
rs2133801342
|
|
NM_001384140.1(PCDH15):c.1475dup (p.Val493fs)
|
rs1591019480
|
|
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs)
|
rs767847479
|
|
NM_001384140.1(PCDH15):c.1561_1580delinsTAAAAGTGTTCCTGTTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGTCATGGCCATCAGAGAAATGCAAATCAAAACATA (p.Asp521_Ser527delinsTer)
|
|
|
NM_001384140.1(PCDH15):c.1576del (p.Asp526fs)
|
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
NM_001384140.1(PCDH15):c.1630dup (p.Ile544fs)
|
|
|
NM_001384140.1(PCDH15):c.1639G>T (p.Glu547Ter)
|
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.1709_1719del (p.Gly570fs)
|
rs2044717037
|
|
NM_001384140.1(PCDH15):c.1717del (p.Glu572_Met573insTer)
|
|
|
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.1744dup (p.Thr582fs)
|
|
|
NM_001384140.1(PCDH15):c.1789del (p.Ser597fs)
|
|
|
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
|
|
|
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.1831C>T (p.Gln611Ter)
|
rs1350235037
|
|
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)
|
rs1590691343
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
|
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
|
NM_001384140.1(PCDH15):c.1957_1960del (p.Glu653fs)
|
|
|
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
|
rs2136049616
|
|
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.2031del (p.Asp677fs)
|
|
|
NM_001384140.1(PCDH15):c.2088_2089insA (p.Gly697fs)
|
rs2135947078
|
|
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
|
|
|
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.2191G>T (p.Glu731Ter)
|
rs2094144044
|
|
NM_001384140.1(PCDH15):c.2212C>T (p.Gln738Ter)
|
rs2135810142
|
|
NM_001384140.1(PCDH15):c.2267del (p.Leu756fs)
|
rs2135323462
|
|
NM_001384140.1(PCDH15):c.2321del (p.Ala774fs)
|
rs2135322427
|
|
NM_001384140.1(PCDH15):c.2477dup (p.Leu827fs)
|
|
|
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
|
|
|
NM_001384140.1(PCDH15):c.2552del (p.Asn851fs)
|
|
|
NM_001384140.1(PCDH15):c.2572del (p.Ser858fs)
|
rs2092878502
|
|
NM_001384140.1(PCDH15):c.2595dup (p.Ala866fs)
|
|
|
NM_001384140.1(PCDH15):c.2617G>T (p.Glu873Ter)
|
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter)
|
rs2092876200
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_001384140.1(PCDH15):c.2651del (p.Ala884fs)
|
rs2135283149
|
|
NM_001384140.1(PCDH15):c.2687dup (p.Glu897fs)
|
|
|
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.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2868+2T>C
|
rs2091798175
|
|
NM_001384140.1(PCDH15):c.2895T>A (p.Tyr965Ter)
|
|
|
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)
|
rs2134302083
|
|
NM_001384140.1(PCDH15):c.2924del (p.Pro975fs)
|
|
|
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.3120T>G (p.Tyr1040Ter)
|
|
|
NM_001384140.1(PCDH15):c.3167del (p.Gly1056fs)
|
|
|
NM_001384140.1(PCDH15):c.3207C>A (p.Tyr1069Ter)
|
|
|
NM_001384140.1(PCDH15):c.3221_3222del (p.Gly1074fs)
|
|
|
NM_001384140.1(PCDH15):c.3232+1G>A
|
|
|
NM_001384140.1(PCDH15):c.3251del (p.Asn1084fs)
|
|
|
NM_001384140.1(PCDH15):c.3256del (p.Thr1086fs)
|
|
|
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)
|
|
|
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.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3544del (p.Arg1182fs)
|
|
|
NM_001384140.1(PCDH15):c.355C>T (p.Gln119Ter)
|
rs1947274911
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3590_3591dup (p.Glu1198fs)
|
|
|
NM_001384140.1(PCDH15):c.3600T>G (p.Tyr1200Ter)
|
rs768989856
|
|
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
|
|
|
NM_001384140.1(PCDH15):c.3660_3666del (p.Phe1220fs)
|
|
|
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter)
|
rs1589156388
|
|
NM_001384140.1(PCDH15):c.366del (p.Asn122fs)
|
rs1589072933
|
|
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter)
|
rs2079479378
|
|
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.3721del (p.Ser1241fs)
|
|
|
NM_001384140.1(PCDH15):c.3745del (p.Gln1249fs)
|
|
|
NM_001384140.1(PCDH15):c.3753dup (p.Val1252fs)
|
|
|
NM_001384140.1(PCDH15):c.3757del (p.Ser1253fs)
|
rs2078810640
|
|
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
|
|
|
NM_001384140.1(PCDH15):c.3781dup (p.Glu1261fs)
|
|
|
NM_001384140.1(PCDH15):c.3788dup (p.Ile1264fs)
|
|
|
NM_001384140.1(PCDH15):c.3789del (p.Lys1263_Ile1264insTer)
|
rs2133038541
|
|
NM_001384140.1(PCDH15):c.3791_3792del (p.Ile1264fs)
|
rs2078806601
|
|
NM_001384140.1(PCDH15):c.3918T>A (p.Cys1306Ter)
|
|
|
NM_001384140.1(PCDH15):c.391del (p.His131fs)
|
|
|
NM_001384140.1(PCDH15):c.3946del (p.Gln1316fs)
|
rs1589036783
|
|
NM_001384140.1(PCDH15):c.3963_3964insA (p.Asp1322fs)
|
rs2077566001
|
|
NM_001384140.1(PCDH15):c.3964del (p.Asp1322fs)
|
|
|
NM_001384140.1(PCDH15):c.3973G>T (p.Glu1325Ter)
|
|
|
NM_001384140.1(PCDH15):c.3981_3982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAAATGAGCTTTTT (p.Lys1328delinsPhePhePhePhePhePheXaaXaaXaaXaaArgTyrIleSerGlnCysTyrProSerProLeuProArgProHisHisSerProGlnLysTer)
|
|
|
NM_001384140.1(PCDH15):c.3984-1G>C
|
rs1057520709
|
|
NM_001384140.1(PCDH15):c.4024C>T (p.Gln1342Ter)
|
rs61731387
|
|
NM_001384140.1(PCDH15):c.4035T>A (p.Tyr1345Ter)
|
rs1057520678
|
|
NM_001384140.1(PCDH15):c.4128dup (p.Leu1378fs)
|
rs2077005374
|
|
NM_001384140.1(PCDH15):c.4197C>G (p.Tyr1399Ter)
|
rs2132634562
|
|
NM_001384140.1(PCDH15):c.4201C>T (p.Gln1401Ter)
|
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4238del (p.Ala1413fs)
|
|
|
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)
|
rs2134714165
|
|
NM_001384140.1(PCDH15):c.4274del (p.Ala1425fs)
|
rs2132579465
|
|
NM_001384140.1(PCDH15):c.4289_4319del (p.Ala1430fs)
|
|
|
NM_001384140.1(PCDH15):c.4349_4352dup (p.Gly1452fs)
|
rs2132576827
|
|
NM_001384140.1(PCDH15):c.472G>T (p.Glu158Ter)
|
|
|
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs)
|
rs2134175729
|
|
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter)
|
rs1943288780
|
|
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)
|
rs2135421905
|
|
NM_001384140.1(PCDH15):c.617_618del (p.Ile206fs)
|
rs2133883986
|
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NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
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NM_001384140.1(PCDH15):c.804T>A (p.Cys268Ter)
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|
|
NM_001384140.1(PCDH15):c.84dup (p.Asp29Ter)
|
rs2135421507
|
|
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048
|
|
NM_001384140.1(PCDH15):c.960_967del (p.Gly321fs)
|
rs1264391272
|
|
NM_001384140.1(PCDH15):c.973dup (p.Ser325fs)
|
|
|
NM_001384140.1(PCDH15):c.975del (p.Ile326fs)
|
|
|
NM_001384140.1(PCDH15):c.985_985+3del
|
|
|
NM_001384140.1(PCDH15):c.996_999del (p.Glu332fs)
|
rs2134108223
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4369_4372dup (p.Phe1458fs)
|
rs754624281
|
|
NM_033056.4(PCDH15):c.4372_4390dup (p.Gln1464fs)
|
|
|
NM_033056.4(PCDH15):c.4382_4385dup (p.His1462fs)
|
|
|
NM_033056.4(PCDH15):c.4383C>G (p.Tyr1461Ter)
|
|
|
NM_033056.4(PCDH15):c.4398_4414del (p.Arg1467fs)
|
|
|
NM_033056.4(PCDH15):c.4406_4409dup (p.Asn1470delinsLysTer)
|
rs2076434973
|
|
NM_033056.4(PCDH15):c.4408_4468dup (p.Ile1490fs)
|
|
|
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs)
|
rs749884609
|
|
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.4437_4452dup (p.Phe1485fs)
|
|
|
NM_033056.4(PCDH15):c.4462_4468dup (p.Ile1490fs)
|
|
|
NM_033056.4(PCDH15):c.4482_4506dup (p.Lys1503delinsValSerSerCysArgArgIleThrTer)
|
|
|
NM_033056.4(PCDH15):c.4489_4508dup (p.Lys1503delinsAsnMetTer)
|
|
|
NM_033056.4(PCDH15):c.4513_4571del (p.Asn1505fs)
|
|
|
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs)
|
rs1554820966
|
|
NM_033056.4(PCDH15):c.4536dup (p.Phe1513fs)
|
|
|
NM_033056.4(PCDH15):c.4546_4565dup (p.Leu1522fs)
|
|
|
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.4559del (p.Asp1520fs)
|
|
|
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.4591G>T (p.Glu1531Ter)
|
rs867154687
|
|
NM_033056.4(PCDH15):c.4596_4599dup (p.Ser1534fs)
|
|
|
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer)
|
rs2132508266
|
|
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.4616_4647dup (p.Asp1550delinsIleGlnThrPheHisArgGluGlnIleLeuTer)
|
rs779857486
|
|
NM_033056.4(PCDH15):c.4630_4631del (p.Gln1544fs)
|
|
|
NM_033056.4(PCDH15):c.4644dup (p.Val1549fs)
|
rs1564538809
|
|
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.4700_4728dup (p.Ser1577fs)
|
|
|
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs)
|
rs1554820749
|
|
NM_033056.4(PCDH15):c.4721G>A (p.Trp1574Ter)
|
|
|
NM_033056.4(PCDH15):c.4729_4736del (p.Ser1577fs)
|
|
|
NM_033056.4(PCDH15):c.5659A>T (p.Lys1887Ter)
|
rs2076305143
|
|