ClinVar Miner

List of variants studied for Usher syndrome type 1D

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 547
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.1753-43T>C rs1227042 0.92381
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_022124.6(CDH23):c.4206+131T>C rs1227061 0.77987
NM_022124.6(CDH23):c.4206+61T>A rs1227062 0.77967
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_022124.6(CDH23):c.146-125T>C rs2297953 0.74120
NM_022124.6(CDH23):c.429+26A>G rs3802718 0.73928
NM_022124.6(CDH23):c.429+13G>A rs3802719 0.73455
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_022124.6(CDH23):c.4618-77C>T rs1227052 0.72986
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_022124.6(CDH23):c.2397+26T>C rs3752750 0.62554
NM_022124.6(CDH23):c.1134+164C>G rs7903772 0.61986
NM_022124.6(CDH23):c.4488+32C>G rs10762474 0.51502
NM_022124.6(CDH23):c.1135-128A>G rs10823810 0.51167
NM_022124.6(CDH23):c.1753-78A>T rs3802717 0.49901
NM_022124.6(CDH23):c.832+101G>A rs6480531 0.42446
NM_022124.6(CDH23):c.4846-49T>C rs7917781 0.41434
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_022124.6(CDH23):c.5187+99T>C rs10762481 0.39527
NM_022124.6(CDH23):c.-5-83C>A rs4747153 0.37515
NM_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_022124.6(CDH23):c.2060-176C>T rs2290026 0.33636
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_022124.6(CDH23):c.6830-81G>A rs7068357 0.27610
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849 0.27322
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_022124.6(CDH23):c.1987-123G>A rs1227087 0.26320
NM_022124.6(CDH23):c.2059+79C>T rs1227086 0.25536
NM_022124.6(CDH23):c.5503-44T>C rs7068810 0.20565
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_022124.6(CDH23):c.3370-46T>C rs3802712 0.17108
NM_022124.6(CDH23):c.9077+8G>A rs11818398 0.15161
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_022124.6(CDH23):c.5503-10A>G rs2394839 0.14568
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_022124.6(CDH23):c.4846-79G>A rs41281328 0.13922
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_022124.6(CDH23):c.1290+217T>C rs2305208 0.13525
NM_022124.6(CDH23):c.3431-205A>C rs12240855 0.12869
NM_022124.6(CDH23):c.3431-133T>C rs12263420 0.12860
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.-1C>T rs41281302 0.08269
NM_022124.6(CDH23):c.7225-22C>T rs3802708 0.07941
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475 0.07481
NM_022124.6(CDH23):c.625-93G>A rs736717 0.05549
NM_022124.6(CDH23):c.3580-12C>T rs73275848 0.05331
NM_022124.6(CDH23):c.67+12C>T rs74144963 0.05182
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978 0.03956
NM_022124.6(CDH23):c.-258G>A rs139742443 0.03851
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_022124.6(CDH23):c.2060-19C>G rs2290024 0.02940
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
NM_022124.6(CDH23):c.1134+13A>G rs7903502 0.02225
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031 0.02131
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_022124.6(CDH23):c.4359+11G>A rs12242607 0.01676
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130 0.01418
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_022124.6(CDH23):c.*173C>T rs143222936 0.00719
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606 0.00698
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_022124.6(CDH23):c.5067+15G>A rs367928867 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_022124.6(CDH23):c.2954-15C>T rs376377077 0.00120
NM_022124.6(CDH23):c.1140+14T>C rs376753769 0.00113
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_022124.6(CDH23):c.-15C>A rs760922529 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_001164375.3(C10orf105):c.*3111C>T rs187975106 0.00061
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_022124.6(CDH23):c.5821-13C>T rs117317626 0.00054
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_022124.6(CDH23):c.*76G>A rs545047958 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585 0.00033
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096 0.00027
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_022124.6(CDH23):c.-55G>A rs939943382 0.00025
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_022124.6(CDH23):c.*56G>A rs756856139 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp) rs201763918 0.00021
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352 0.00021
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695 0.00020
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_022124.6(CDH23):c.-353C>G rs886047121 0.00019
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_022124.6(CDH23):c.9633+14G>A rs376672264 0.00018
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_022124.6(CDH23):c.9510+14G>A rs188563959 0.00017
NM_022124.6(CDH23):c.2176+12C>T rs371967419 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.3580-13C>T rs150894638 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205 0.00014
NM_022124.6(CDH23):c.7362+14G>A rs78158757 0.00014
NM_022124.6(CDH23):c.8309-3C>T rs371910002 0.00014
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439 0.00013
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.*85G>A rs886047144 0.00010
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519 0.00010
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) rs371286324 0.00010
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743 0.00009
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) rs762247872 0.00009
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_022124.6(CDH23):c.2059+6G>A rs727502923 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918 0.00008
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=) rs749913488 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107 0.00007
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189 0.00006
NM_022124.6(CDH23):c.2289C>T (p.Thr763=) rs770008354 0.00006
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val) rs202203105 0.00006
NM_022124.6(CDH23):c.324C>T (p.Ser108=) rs373668614 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457 0.00006
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) rs776269225 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707 0.00006
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 0.00006
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) rs746716712 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) rs776970952 0.00005
NM_022124.6(CDH23):c.3106+11G>A rs759689776 0.00005
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His) rs753822806 0.00005
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622 0.00005
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589 0.00005
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465 0.00005
NM_022124.6(CDH23):c.8065-5C>A rs561693723 0.00005
NM_022124.6(CDH23):c.968G>A (p.Arg323His) rs181449189 0.00005
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022124.6(CDH23):c.205G>A (p.Val69Met) rs563224115 0.00004
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674 0.00004
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser) rs749105554 0.00004
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=) rs369559033 0.00004
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser) rs781280613 0.00004
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901 0.00004
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347 0.00004
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210 0.00004
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=) rs761613739 0.00004
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly) rs754761193 0.00004
NM_022124.6(CDH23):c.8064+13C>A rs374981343 0.00004
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) rs373602652 0.00004
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726 0.00004
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln) rs776346516 0.00004
NM_022124.6(CDH23):c.9511-7T>C rs531195164 0.00004
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00004
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp) rs1434063011 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022124.6(CDH23):c.*83G>A rs886047143 0.00003
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) rs397517311 0.00003
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) rs756958499 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997 0.00003
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276 0.00003
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152 0.00003
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=) rs774716336 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) rs886047138 0.00003
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655 0.00003
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) rs188078418 0.00003
NM_022124.6(CDH23):c.559G>A (p.Val187Ile) rs369624952 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp) rs750798211 0.00003
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met) rs372981760 0.00003
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) rs749342092 0.00003
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944 0.00003
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006 0.00002
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135 0.00002
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.1858+6T>C rs745522676 0.00002
NM_022124.6(CDH23):c.2038G>A (p.Val680Met) rs760334573 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.2290-3C>T rs182365129 0.00002
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371 0.00002
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) rs544278944 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00002
NM_022124.6(CDH23):c.7054+6T>C rs750286810 0.00002
NM_022124.6(CDH23):c.7225-11C>G rs1393666972 0.00002
NM_022124.6(CDH23):c.7661-8A>G rs754067214 0.00002
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln) rs1235821368 0.00002
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=) rs767480784 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=) rs367684899 0.00002
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=) rs749666237 0.00001
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser) rs777886341 0.00001
NM_001384140.1(PCDH15):c.92-528C>T rs190773725 0.00001
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_022124.6(CDH23):c.*1C>G rs768199443 0.00001
NM_022124.6(CDH23):c.*247C>T rs1209398908 0.00001
NM_022124.6(CDH23):c.*408G>A rs376837903 0.00001
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.*509C>T rs763532469 0.00001
NM_022124.6(CDH23):c.-185G>C rs545081281 0.00001
NM_022124.6(CDH23):c.-38G>C rs886047128 0.00001
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) rs746750273 0.00001
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) rs369803887 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn) rs374014052 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131 0.00001
NM_022124.6(CDH23):c.2525G>A (p.Arg842Gln) rs753068359 0.00001
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys) rs775017408 0.00001
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) rs373305209 0.00001
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser) rs760043975 0.00001
NM_022124.6(CDH23):c.28C>T (p.His10Tyr) rs971142356 0.00001
NM_022124.6(CDH23):c.2953+10C>T rs781572688 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=) rs778344637 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936 0.00001
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn) rs780886093 0.00001
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370 0.00001
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg) rs747673739 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val) rs769888766 0.00001
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp) rs1465588529 0.00001
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn) rs983665281 0.00001
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) rs762382800 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.7055-15G>A rs371872394 0.00001
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe) rs373823262 0.00001
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) rs886047141 0.00001
NM_022124.6(CDH23):c.789G>A (p.Gln263=) rs772466142 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) rs185818081 0.00001
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His) rs373600041 0.00001
NM_022124.6(CDH23):c.8979+13C>T rs886047142 0.00001
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met) rs1294837134 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017 0.00001
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His) rs1157786977 0.00001
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe) rs557490269 0.00001
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_001142763.1:c.-189197_c.610-5166del
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
NM_001384140.1(PCDH15):c.1441-1G>T rs2133801703
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs) rs2094144598
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
NM_001384140.1(PCDH15):c.4672-1712_4672-1710del rs2132368553
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala) rs775845546
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
NM_022124.5(CDH23):c.337del rs2132200416
NM_022124.6(CDH23):c.*481G>A rs1842115067
NM_022124.6(CDH23):c.*612G>A rs886047147
NM_022124.6(CDH23):c.-168C>T rs886047126
NM_022124.6(CDH23):c.-276G>A rs886047123
NM_022124.6(CDH23):c.-346G>T rs886047122
NM_022124.6(CDH23):c.-6+13A>C rs1847565256
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) rs745358868
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1291-1G>A rs2132596686
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile) rs1862880669
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.1566C>T (p.Asp522=) rs1864422770
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala) rs1864515873
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.1986+10C>A rs1864699424
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.2100C>T (p.Arg700=) rs2132705726
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2337_2339del (p.Lys779_Asp780delinsAsn)
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) rs886047132
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp) rs1203928940
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala) rs1308326827
NM_022124.6(CDH23):c.2817C>T (p.Leu939=) rs2132739969
NM_022124.6(CDH23):c.2864G>T (p.Arg955Leu)
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
NM_022124.6(CDH23):c.3353del (p.Gly1118fs) rs2132760607
NM_022124.6(CDH23):c.3430+114T>C rs7893748
NM_022124.6(CDH23):c.3431-1G>A rs2132804878
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) rs886047134
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) rs886047135
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.4210-12G>A rs115948943
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=) rs1564768174
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) rs756674688
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly) rs773842427
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met) rs1446824013
NM_022124.6(CDH23):c.4693TAC[1] (p.Tyr1566del)
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) rs886047137
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5187+44C>G rs10740390
NM_022124.6(CDH23):c.5187+73C>T rs10823843
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) rs759706770
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) rs371522191
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln) rs1483080564
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=) rs777270336
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe) rs2132947982
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=) rs542473653
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile) rs2132948196
NM_022124.6(CDH23):c.605A>C (p.Gln202Pro) rs2132359067
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs) rs2132953243
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs) rs2132953252
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu) rs780094972
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=) rs368155422
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) rs375329233
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) rs2132954257
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu) rs761674470
NM_022124.6(CDH23):c.699C>T (p.Asp233=) rs752101206
NM_022124.6(CDH23):c.7225-1G>A rs1064795722
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp) rs760879110
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=) rs747310070
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.7978del (p.Asp2660fs) rs2132983724
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=) rs1841760426
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His) rs202147495
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) rs886047130
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn) rs2132514962
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys) rs1174493289
NM_022124.6(CDH23):c.8693C>A (p.Ser2898Tyr) rs1841789978
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys) rs376881824
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) rs188966938
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr) rs2133006667
NM_022124.6(CDH23):c.945+1G>A rs727502919
NM_022124.6(CDH23):c.9510+14G>T rs188563959
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del) rs763993100
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly) rs532369554
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg) rs1842084788
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys) rs2133017674
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser) rs1194313858
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer) rs770082088
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly) rs2076305966

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.