ClinVar Miner

List of variants studied for Usher syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3282
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HGVS dbSNP
DFNB31, IVS2DS, G-A, +1
MYO7A, IVS27AS, G-C, -1
NC_000001.10:g.216144119_216591855del447737
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.9:g.140059894_140070834del
NG_007083.1:g.371658_507674del
NM_000260.3(MYO7A):c.*546C>T rs115812166
NM_000260.3(MYO7A):c.*560C>T rs35776264
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) rs1555051390
NM_000260.3(MYO7A):c.29T>C rs878853237
NM_000260.4(MYO7A):c.*100C>T
NM_000260.4(MYO7A):c.*101G>A rs886048683
NM_000260.4(MYO7A):c.*142A>G rs369873505
NM_000260.4(MYO7A):c.*201T>C
NM_000260.4(MYO7A):c.*208C>G rs886048684
NM_000260.4(MYO7A):c.*230A>G rs112830819
NM_000260.4(MYO7A):c.*315C>G
NM_000260.4(MYO7A):c.*363A>C rs115872143
NM_000260.4(MYO7A):c.*38G>A
NM_000260.4(MYO7A):c.*392A>G
NM_000260.4(MYO7A):c.*416C>T
NM_000260.4(MYO7A):c.*440G>A
NM_000260.4(MYO7A):c.*442T>C rs115238711
NM_000260.4(MYO7A):c.*504C>T rs34765389
NM_000260.4(MYO7A):c.*75C>T
NM_000260.4(MYO7A):c.-154G>A rs545774605
NM_000260.4(MYO7A):c.-160G>A rs576789908
NM_000260.4(MYO7A):c.-170C>T rs886048667
NM_000260.4(MYO7A):c.-196C>T rs886048666
NM_000260.4(MYO7A):c.-20G>A rs886048668
NM_000260.4(MYO7A):c.-211A>G rs41298129
NM_000260.4(MYO7A):c.-52C>G
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs) rs1591286221
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) rs1591286671
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) rs1555067608
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1201-12A>G
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=) rs886048673
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693
NM_000260.4(MYO7A):c.133-14C>T rs116228809
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.133-2A>G rs782064437
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.133-7_146dup rs1555054558
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1344-7C>G rs886048674
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306
NM_000260.4(MYO7A):c.1401_1403dup (p.His468_Val469insGln) rs111033219
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1554+7C>T rs150114658
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) rs886048675
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) rs886048669
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) rs1555070062
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) rs1555070084
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) rs369142107
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1690+4C>T
NM_000260.4(MYO7A):c.1690+9G>T rs371146074
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=)
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.4(MYO7A):c.1797+13C>T
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) rs121965082
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.1798-3C>G rs1555076939
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289
NM_000260.4(MYO7A):c.1845del (p.Lys615fs) rs886037762
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) rs121965083
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.19-2A>G rs1555051384
NM_000260.4(MYO7A):c.19-9C>T rs368452072
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) rs876657416
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) rs1555054736
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) rs1555078942
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) rs572300575
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) rs886048676
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) rs886048670
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425
NM_000260.4(MYO7A):c.2239_2240AG[1] (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.223del (p.Asp75fs) rs876657415
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733
NM_000260.4(MYO7A):c.2282+5G>A rs540145750
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) rs782384464
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.4(MYO7A):c.2355del (p.Asn786fs) rs1591369118
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) rs782693893
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) rs376796087
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) rs561347333
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) rs782711428
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) rs782179888
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=) rs782279442
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) rs199979876
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) rs565162134
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile)
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) rs1296612982
NM_000260.4(MYO7A):c.285+1G>C rs782661097
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297
NM_000260.4(MYO7A):c.286-5C>T rs111033471
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.288G>T (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2905-1G>A rs1171417339
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Gln1010_Gly1011insLeuHisProValVal) rs782367511
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) rs1180304045
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu)
NM_000260.4(MYO7A):c.3109-15C>T
NM_000260.4(MYO7A):c.3109-27_3109-7dup rs1555085333
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) rs1555061483
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro) rs375050157
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.3375+12C>T
NM_000260.4(MYO7A):c.3375+14C>A rs782500012
NM_000260.4(MYO7A):c.3375+3G>A rs397516299
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) rs782313913
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) rs782140421
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) rs886048671
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln)
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) rs780594308
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) rs775908821
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) rs767426033
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148
NM_000260.4(MYO7A):c.3750+5G>A rs111033391
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.3751-14T>C
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) rs754599732
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) rs781670345
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser)
NM_000260.4(MYO7A):c.3872_3873TC[3] (p.Leu1293fs) rs760251968
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3924+12C>T rs2276285
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) rs1349274983
NM_000260.4(MYO7A):c.3925-8G>A rs367645097
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) rs1555061692
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser)
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) rs1555092931
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) rs763469001
NM_000260.4(MYO7A):c.4033_4035TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) rs111534474
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu)
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln) rs886048677
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn)
NM_000260.4(MYO7A):c.4153-10C>G rs397516306
NM_000260.4(MYO7A):c.4153-11C>T rs727503330
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4338_4340GAG[1] (p.Arg1448del) rs1432069074
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln)
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=)
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413
NM_000260.4(MYO7A):c.4500_4501TG[1] (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4568+12C>G rs72933642
NM_000260.4(MYO7A):c.4568+13G>A rs532356676
NM_000260.4(MYO7A):c.4569-1G>A rs775792432
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) rs886048678
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) rs757971917
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753
NM_000260.4(MYO7A):c.470+1G>A rs797044510
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys)
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) rs1555100610
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) rs749146420
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) rs767975012
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599
NM_000260.4(MYO7A):c.495G>A (p.Thr165=)
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) rs1591467894
NM_000260.4(MYO7A):c.4997_4998GT[2] (p.Tyr1668fs) rs1591467918
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp)
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) rs886048679
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) rs1591470904
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) rs886048680
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5169-6C>T rs768594224
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met)
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) rs886048681
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp)
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) rs773557376
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5326+13C>T rs114157944
NM_000260.4(MYO7A):c.5327-10C>G
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) rs376301325
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=)
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) rs368749248
NM_000260.4(MYO7A):c.5480+10G>A rs768513428
NM_000260.4(MYO7A):c.5481-14G>A rs113075052
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) rs754761542
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531
NM_000260.4(MYO7A):c.5589C>T (p.His1863=)
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) rs1299898646
NM_000260.4(MYO7A):c.5637-173C>T rs207472020
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) rs140664109
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) rs375627342
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) rs747516555
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) rs886048672
NM_000260.4(MYO7A):c.5743-12T>C rs2276291
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) rs1555106562
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) rs749438001
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) rs886048682
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) rs767931313
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286
NM_000260.4(MYO7A):c.5857-3C>A rs727505114
NM_000260.4(MYO7A):c.5857-7A>T rs1320703
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) rs1397834886
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) rs371313080
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.4(MYO7A):c.593-4G>A rs876657534
NM_000260.4(MYO7A):c.593-5C>T rs762666
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) rs762420918
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=)
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037
NM_000260.4(MYO7A):c.5945-9G>C
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) rs377517717
NM_000260.4(MYO7A):c.5956_5959TCAC[3] (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile)
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6052-11G>C rs112564978
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) rs1381141633
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) rs747131589
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) rs1555109788
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) rs1555109806
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) rs367738288
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) rs1555110680
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) rs1555111077
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) rs1003695470
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) rs544709413
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr)
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del) rs1555062984
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) rs370866578
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro) rs876657417
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) rs779431269
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) rs1555111501
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.736-3C>T rs1555063792
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.741G>A (p.Leu247=)
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544
NM_000260.4(MYO7A):c.813C>T (p.Gly271=)
NM_000260.4(MYO7A):c.849+5G>A rs1060499716
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) rs782505601
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) rs372344870
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968
NM_001142763.1:c.-189197_c.610-5166del
NM_001142769.3(PCDH15):c.4410-943G>A rs1554816509
NM_001142769.3(PCDH15):c.4450C>A (p.Pro1484Thr) rs1554816211
NM_001142769.3(PCDH15):c.4454C>T (p.Pro1485Leu) rs1554816210
NM_001142769.3(PCDH15):c.4465G>T (p.Glu1489Ter) rs1554816196
NM_001142769.3(PCDH15):c.4492_4503del (p.Ala1498_Glu1501del) rs1554816165
NM_001142769.3(PCDH15):c.4519-1G>A rs1554815909
NM_001142771.2(PCDH15):c.4497+1077_4497+1082del rs1588876049
NM_001142771.2(PCDH15):c.4497+1257_4497+1258del rs1554815781
NM_001142771.2(PCDH15):c.4497+1297_4497+1300dup rs1343032451
NM_001142771.2(PCDH15):c.4497+1355_4497+1359dup rs1588874677
NM_001142771.2(PCDH15):c.4497+1403GAG[5] rs1272584101
NM_001142771.2(PCDH15):c.4497+1412G>T rs1467453189
NM_001142771.2(PCDH15):c.4497+1420del rs778088114
NM_001142771.2(PCDH15):c.4497+1511_4497+1519del rs1554815654
NM_001142771.2(PCDH15):c.4497+1523G>T rs755005336
NM_001142771.2(PCDH15):c.4497+1550C>T rs765589050
NM_001142771.2(PCDH15):c.4497+1559C>T rs368397508
NM_001142771.2(PCDH15):c.4497+1577GAA[3] rs774006219
NM_001142771.2(PCDH15):c.4497+1617_4497+1637del rs769671738
NM_001142771.2(PCDH15):c.4497+1708_4497+1711dup rs1554815534
NM_001142771.2(PCDH15):c.4498-1564T>C rs193186244
NM_001142771.2(PCDH15):c.4498-1648_4498-1644dup rs1554815468
NM_001142771.2(PCDH15):c.4498-1662del rs1554815484
NM_001142771.2(PCDH15):c.4498-1666G>T rs1297423576
NM_001142771.2(PCDH15):c.4498-1709_4498-1706dup rs1554815527
NM_001142771.2(PCDH15):c.4498-2A>G rs1554814991
NM_001142771.2(PCDH15):c.4514_4517dup (p.Lys1507fs) rs1589057333
NM_001142771.2(PCDH15):c.4534C>T (p.Arg1512Ter) rs770416107
NM_001142771.2(PCDH15):c.4548del (p.Ser1517fs) rs778963761
NM_001142771.2(PCDH15):c.4555_4560dup (p.Thr1519_Gly1520dup) rs1554814938
NM_001142771.2(PCDH15):c.4565_4568dup (p.Ser1523fs) rs1554814927
NM_001142771.2(PCDH15):c.4654_4661del (p.Ser1552fs) rs750833316
NM_001142771.2(PCDH15):c.4692_4695dup (p.Lys1566fs) rs757520086
NM_001142771.2(PCDH15):c.4740del (p.Asp1581fs) rs1554814800
NM_001142771.2(PCDH15):c.4814_4817dup (p.Met1606fs) rs760669176
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_001142771.2(PCDH15):c.4869_4871dup (p.Asn1624dup) rs1554814729
NM_001142771.2(PCDH15):c.4880T>C (p.Val1627Ala) rs755487351
NM_001142771.2(PCDH15):c.4908_4909CA[1] (p.Thr1637fs) rs1320916581
NM_001142771.2(PCDH15):c.4908_4915del (p.Ser1636fs) rs1554814684
NM_001142771.2(PCDH15):c.4918C>T (p.Gln1640Ter) rs1554814683
NM_001142771.2(PCDH15):c.4932_4935dup (p.Ser1646Ter) rs1198732380
NM_001142771.2(PCDH15):c.4934_4937dup (p.Ser1646fs) rs1554814669
NM_001142771.2(PCDH15):c.4982A>C (p.Gln1661Pro) rs17704703
NM_001142771.2(PCDH15):c.4986_4988TGA[2] (p.Asp1664del) rs1554814635
NM_001142771.2(PCDH15):c.5041A>T (p.Lys1681Ter) rs1554814611
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) rs1564634581
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) rs368026275
NM_001195794.1(CLRN1):c.-141C>T
NM_001195794.1(CLRN1):c.-186A>G
NM_001195794.1(CLRN1):c.-229A>G
NM_001195794.1(CLRN1):c.-274A>C rs886058092
NM_001195794.1(CLRN1):c.-289G>A rs55842922
NM_001195794.1(CLRN1):c.-71A>G rs3796240
NM_001195794.1(CLRN1):c.-82T>C rs778235601
NM_001195794.1(CLRN1):c.-91C>T
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_001195794.1(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_001195794.1(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001195794.1(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_001195794.1(CLRN1):c.183G>A (p.Met61Ile) rs140094683
NM_001195794.1(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_001195794.1(CLRN1):c.185A>G (p.Gln62Arg)
NM_001195794.1(CLRN1):c.188_210del (p.Tyr63fs) rs1553776036
NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267
NM_001195794.1(CLRN1):c.209G>A (p.Gly70Asp) rs1559996059
NM_001195794.1(CLRN1):c.20A>T (p.Lys7Ile) rs3796241
NM_001195794.1(CLRN1):c.218A>G (p.Gln73Arg) rs201008540
NM_001195794.1(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_001195794.1(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_001195794.1(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_001195794.1(CLRN1):c.454_460ACCAGGC[3] (p.Gln157fs) rs768093614
NM_001195794.1(CLRN1):c.57A>T (p.Ala19=) rs3796242
NM_001195794.1(CLRN1):c.658C>T (p.Arg220Ter) rs373208120
NM_001195794.1(CLRN1):c.65T>A (p.Leu22His) rs1576651623
NM_001195794.1(CLRN1):c.699C>T (p.Asp233=) rs148752352
NM_001195794.1(CLRN1):c.6A>C (p.Pro2=) rs111033422
NM_001258040.2(HARS1):c.-126T>C rs886060022
NM_002109.6(HARS1):c.*281C>T rs77576083
NM_002109.6(HARS1):c.*312C>G rs145532449
NM_002109.6(HARS1):c.*331A>T rs886060018
NM_002109.6(HARS1):c.-1G>A rs746588443
NM_002109.6(HARS1):c.-23G>A rs545016707
NM_002109.6(HARS1):c.-3G>A rs754488411
NM_002109.6(HARS1):c.-46A>G rs369183621
NM_002109.6(HARS1):c.-64C>T rs113209109
NM_002109.6(HARS1):c.1000G>A (p.Val334Met) rs1554106875
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter) rs1370029240
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile) rs1562005331
NM_002109.6(HARS1):c.103G>A (p.Val35Met) rs144588417
NM_002109.6(HARS1):c.1053C>G (p.Pro351=) rs1435212159
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys) rs751272874
NM_002109.6(HARS1):c.1110C>T (p.Phe370=) rs761267344
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn) rs753104645
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373
NM_002109.6(HARS1):c.1124G>A (p.Arg375His) rs151258227
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg) rs139447495
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu) rs377410852
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly) rs1581503971
NM_002109.6(HARS1):c.1194+4G>A rs370189312
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372
NM_002109.6(HARS1):c.1213C>A (p.Arg405=) rs908109064
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn) rs369070016
NM_002109.6(HARS1):c.1221G>A (p.Thr407=) rs150274370
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter) rs201011416
NM_002109.6(HARS1):c.1252_1254AAG[1] (p.Lys419del) rs779289896
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864
NM_002109.6(HARS1):c.1311+4T>C rs958234389
NM_002109.6(HARS1):c.1312-8C>T rs772505507
NM_002109.6(HARS1):c.1329_1331GAA[1] (p.Lys444del)
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys) rs1204851184
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys) rs199615869
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg) rs1024985302
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu) rs1581500046
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) rs147372931
NM_002109.6(HARS1):c.1458+7G>A rs58302597
NM_002109.6(HARS1):c.1459-1G>C rs1300317175
NM_002109.6(HARS1):c.1461G>A (p.Val487=) rs931036155
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro) rs201398055
NM_002109.6(HARS1):c.159A>G (p.Lys53=)
NM_002109.6(HARS1):c.182G>A (p.Gly61Asp) rs886060021
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser) rs1581516557
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln) rs753788498
NM_002109.6(HARS1):c.218G>A (p.Arg73His) rs767325912
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys) rs769340873
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg) rs749493279
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560
NM_002109.6(HARS1):c.390C>T (p.Asp130=) rs754863405
NM_002109.6(HARS1):c.397-10_397-9del rs886060020
NM_002109.6(HARS1):c.39T>G (p.Leu13=) rs1453807986
NM_002109.6(HARS1):c.407C>T (p.Ala136Val) rs1334234821
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys) rs117579809
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser) rs746887565
NM_002109.6(HARS1):c.465A>G (p.Val155=) rs1202503765
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr) rs745780898
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
NM_002109.6(HARS1):c.588C>T (p.Cys196=) rs2230361
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter) rs780654800
NM_002109.6(HARS1):c.612A>G (p.Ile204Met) rs1562008815
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe) rs762976181
NM_002109.6(HARS1):c.622C>T (p.Leu208=) rs754094386
NM_002109.6(HARS1):c.629_630+4del rs1562008713
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu) rs1562008284
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524
NM_002109.6(HARS1):c.695G>A (p.Arg232His)
NM_002109.6(HARS1):c.729+3A>G rs938453967
NM_002109.6(HARS1):c.72G>A (p.Gln24=) rs148516171
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg) rs1319398620
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)
NM_002109.6(HARS1):c.800T>C (p.Ile267Thr) rs766324898
NM_002109.6(HARS1):c.811G>A (p.Val271Ile) rs149018062
NM_002109.6(HARS1):c.88C>A (p.Leu30Met) rs1247070065
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002109.6(HARS1):c.903C>T (p.Asp301=) rs146835587
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) rs794727969
NM_002109.6(HARS1):c.951+15G>T rs886060019
NM_002778.4(PSAP):c.*238G>C
NM_002778.4(PSAP):c.*891G>A rs7869
NM_002778.4(PSAP):c.1350+5G>A rs11000016
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) rs1560449207
NM_006017.3(PROM1):c.1983+5G>T rs1560421595
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_007123.5(USH2A):c.*1024T>C rs439940
NM_007123.5(USH2A):c.*1077T>C rs886045945
NM_007123.5(USH2A):c.*1128G>T rs401269
NM_007123.5(USH2A):c.*131T>G rs55761862
NM_007123.5(USH2A):c.*147T>C rs771693146
NM_007123.5(USH2A):c.*267T>C rs570544314
NM_007123.5(USH2A):c.*316A>G rs886045949
NM_007123.5(USH2A):c.*397A>G rs772732997
NM_007123.5(USH2A):c.*547T>C rs566131886
NM_007123.5(USH2A):c.*548C>T rs769348449
NM_007123.5(USH2A):c.*575C>A rs886045948
NM_007123.5(USH2A):c.*596G>A rs886045947
NM_007123.5(USH2A):c.*685C>A rs59704861
NM_007123.5(USH2A):c.*787C>G rs41277222
NM_007123.5(USH2A):c.*799C>T rs192047831
NM_007123.5(USH2A):c.*837A>G rs779885066
NM_007123.5(USH2A):c.-159G>C rs886045955
NM_007123.5(USH2A):c.-181C>T rs866904288
NM_007123.5(USH2A):c.-229C>T rs151238022
NM_007123.5(USH2A):c.-289C>A rs886045956
NM_007123.5(USH2A):c.-289C>T rs886045956
NM_007123.5(USH2A):c.-355C>G rs868097748
NM_007123.5(USH2A):c.1039_1041del (p.Asp347del) rs1553250786
NM_007123.5(USH2A):c.126C>T (p.Asn42=) rs774473277
NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_007123.5(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_007123.5(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_007123.5(USH2A):c.1438G>A (p.Val480Ile) rs138694314
NM_007123.5(USH2A):c.1516_1518TAT[1] (p.Tyr507del) rs1553250595
NM_007123.5(USH2A):c.1539C>T (p.Thr513=) rs199939890
NM_007123.5(USH2A):c.1547G>T (p.Gly516Val) rs1415484067
NM_007123.5(USH2A):c.1586_1588CAA[1] (p.Thr530del) rs1553250409
NM_007123.5(USH2A):c.1789C>A (p.His597Asn) rs201127450
NM_007123.5(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_007123.5(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_007123.5(USH2A):c.1900G>T (p.Ala634Ser) rs759589036
NM_007123.5(USH2A):c.1903A>G (p.Ile635Val) rs201808654
NM_007123.5(USH2A):c.2279A>G (p.Asn760Ser) rs776095235
NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.2309_2311AAG[1] (p.Glu771del) rs1553320519
NM_007123.5(USH2A):c.2390_2410dup (p.Pro804_Gly805insArgAspThrAlaGlySerLeu) rs1553320498
NM_007123.5(USH2A):c.2435_2446del (p.Thr812_Cys815del) rs757082108
NM_007123.5(USH2A):c.2459A>G (p.Asn820Ser) rs34447581
NM_007123.5(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_007123.5(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_007123.5(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_007123.5(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_007123.5(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_007123.5(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_007123.5(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_007123.5(USH2A):c.3157+12C>T rs199853422
NM_007123.5(USH2A):c.3158-47_3158-17del rs1553315049
NM_007123.5(USH2A):c.3177G>A (p.Pro1059=) rs767648070
NM_007123.5(USH2A):c.3199_3201TCT[1] (p.Ser1068del) rs1461275915
NM_007123.5(USH2A):c.3250_3251insTACTTACAGTTTACT (p.Trp1084_Leu1085insLeuLeuThrValTyr) rs1553314999
NM_007123.5(USH2A):c.3317-14del rs376363548
NM_007123.5(USH2A):c.3342C>T (p.Asp1114=) rs755765979
NM_007123.5(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_007123.5(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_007123.5(USH2A):c.3492_3493TG[1] (p.Val1165fs) rs1553313844
NM_007123.5(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_007123.5(USH2A):c.3680dup (p.Cys1228fs) rs1553313793
NM_007123.5(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_007123.5(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_007123.5(USH2A):c.3891del (p.Gln1298fs) rs1553313551
NM_007123.5(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_007123.5(USH2A):c.3969G>A (p.Met1323Ile) rs886045953
NM_007123.5(USH2A):c.402del (p.Cys135fs) rs1255535680
NM_007123.5(USH2A):c.415_417CCT[1] (p.Pro140del) rs773595155
NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_007123.5(USH2A):c.4252-36CTTT[5] rs372388546
NM_007123.5(USH2A):c.4252-36CTTT[7] rs372388546
NM_007123.5(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_007123.5(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_007123.5(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950
NM_007123.5(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_007123.5(USH2A):c.442_443inv (p.Phe148Asn)
NM_007123.5(USH2A):c.4521_4522insCAGTCA (p.Ser1508_Leu1509insGlnSer) rs1553310736
NM_007123.5(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_007123.5(USH2A):c.485+3A>T rs1553258031
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_007123.5(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_007123.5(USH2A):c.651+15A>G rs765252898
NM_007123.5(USH2A):c.779T>G (p.Leu260Ter) rs121912598
NM_007123.5(USH2A):c.849-4A>G rs765189933
NM_007123.5(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_007123.5(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857
NM_012208.4(HARS2):c.-117G>C rs886060023
NM_012208.4(HARS2):c.-160C>A rs781279092
NM_012208.4(HARS2):c.-166G>C rs570668430
NM_012208.4(HARS2):c.-187C>G rs537319282
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734
NM_014960.5(ARSG):c.133G>T (p.Asp45Tyr) rs1568445893
NM_015404.4(WHRN):c.*126C>A
NM_015404.4(WHRN):c.*149A>G rs563858014
NM_015404.4(WHRN):c.*156G>A rs567661962
NM_015404.4(WHRN):c.*175C>T
NM_015404.4(WHRN):c.*187A>G rs779279060
NM_015404.4(WHRN):c.*188A>T rs549537695
NM_015404.4(WHRN):c.*325dup rs886063369
NM_015404.4(WHRN):c.*339C>A
NM_015404.4(WHRN):c.*357C>G rs886063368
NM_015404.4(WHRN):c.*37C>G rs549195233
NM_015404.4(WHRN):c.*438T>G
NM_015404.4(WHRN):c.*495T>C
NM_015404.4(WHRN):c.*554C>T rs886063367
NM_015404.4(WHRN):c.*583C>T
NM_015404.4(WHRN):c.*613A>G
NM_015404.4(WHRN):c.*633T>C rs886063366
NM_015404.4(WHRN):c.-204C>G
NM_015404.4(WHRN):c.-23C>G rs770413185
NM_015404.4(WHRN):c.-257C>G rs73555447
NM_015404.4(WHRN):c.-269C>A rs551952938
NM_015404.4(WHRN):c.-295C>G rs7861589
NM_015404.4(WHRN):c.-305C>T
NM_015404.4(WHRN):c.-310G>T
NM_015404.4(WHRN):c.-314C>T
NM_015404.4(WHRN):c.-391C>A rs4527950
NM_015404.4(WHRN):c.-483G>A rs886063374
NM_015404.4(WHRN):c.-499G>A rs886063375
NM_015404.4(WHRN):c.-505C>T
NM_015404.4(WHRN):c.-510G>A rs10759714
NM_015404.4(WHRN):c.-517C>T rs886063376
NM_015404.4(WHRN):c.-570C>G
NM_015404.4(WHRN):c.-581C>T rs886063377
NM_015404.4(WHRN):c.-583C>T rs755158483
NM_015404.4(WHRN):c.-595G>A
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_015404.4(WHRN):c.-91C>T rs2297814
NM_015404.4(WHRN):c.-92C>T
NM_015404.4(WHRN):c.1014A>G (p.Leu338=) rs886063373
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn)
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559
NM_015404.4(WHRN):c.1091= (p.His364=) rs10817610
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) rs763451514
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) rs201105262
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu)
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) rs758129253
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) rs45530335
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) rs886063372
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) rs373389359
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400
NM_015404.4(WHRN):c.1389G>T (p.Leu463=)
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199
NM_015404.4(WHRN):c.1555A>G (p.Met519Val)
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135
NM_015404.4(WHRN):c.1626+8T>G rs547616329
NM_015404.4(WHRN):c.1627-12G>A rs2274160
NM_015404.4(WHRN):c.1627-5T>A rs187221008
NM_015404.4(WHRN):c.1627-7T>G
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) rs775066754
NM_015404.4(WHRN):c.1683C>T (p.Leu561=) rs886063371
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) rs141168514
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr)
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_015404.4(WHRN):c.1929G>A (p.Gln643=)
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920
NM_015404.4(WHRN):c.2130C>A (p.Gly710=) rs781674400
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) rs376805417
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met)
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
NM_015404.4(WHRN):c.2237-10C>G rs200131193
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) rs751455932
NM_015404.4(WHRN):c.2256= (p.Gln752=) rs6478078
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) rs886063370
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) rs545286422
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158
NM_015404.4(WHRN):c.2419-5C>T
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys)
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met)
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) rs137852840
NM_015404.4(WHRN):c.324A>G (p.Gln108=)
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_015404.4(WHRN):c.549G>A (p.Arg183=) rs147477922
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185
NM_015404.4(WHRN):c.680G>T (p.Gly227Val)
NM_015404.4(WHRN):c.680dup (p.Tyr228fs) rs1306987034
NM_015404.4(WHRN):c.684C>T (p.Tyr228=)
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096
NM_015404.4(WHRN):c.695A>C (p.His232Pro)
NM_015404.4(WHRN):c.737del (p.Pro246fs) rs1589229634
NM_015404.4(WHRN):c.762C>T (p.His254=)
NM_015404.4(WHRN):c.837+5G>C rs201863779
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079
NM_022124.6(CDH23):c.*104G>C rs377312107
NM_022124.6(CDH23):c.*117dup rs886047145
NM_022124.6(CDH23):c.*141G>A rs535544696
NM_022124.6(CDH23):c.*173C>T
NM_022124.6(CDH23):c.*1C>G rs768199443
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*247C>T
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*408G>A
NM_022124.6(CDH23):c.*430A>T rs562268606
NM_022124.6(CDH23):c.*434G>A rs529522213
NM_022124.6(CDH23):c.*439C>T rs140312023
NM_022124.6(CDH23):c.*478G>C rs564392413
NM_022124.6(CDH23):c.*481G>A
NM_022124.6(CDH23):c.*509C>T
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.*56G>A
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.*612G>A rs886047147
NM_022124.6(CDH23):c.*68G>C rs527311705
NM_022124.6(CDH23):c.*76G>A
NM_022124.6(CDH23):c.*80G>A rs75715348
NM_022124.6(CDH23):c.*83G>A rs886047143
NM_022124.6(CDH23):c.*85G>A rs886047144
NM_022124.6(CDH23):c.-15C>A rs760922529
NM_022124.6(CDH23):c.-168C>T rs886047126
NM_022124.6(CDH23):c.-185G>C rs545081281
NM_022124.6(CDH23):c.-197_-191GAGCGGC[3] rs527578984
NM_022124.6(CDH23):c.-197_-191GAGCGGC[5] rs527578984
NM_022124.6(CDH23):c.-1C>T rs41281302
NM_022124.6(CDH23):c.-258G>A rs139742443
NM_022124.6(CDH23):c.-276G>A rs886047123
NM_022124.6(CDH23):c.-346G>T rs886047122
NM_022124.6(CDH23):c.-353C>G rs886047121
NM_022124.6(CDH23):c.-38G>C rs886047128
NM_022124.6(CDH23):c.-45_-41AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45_-41AGGCG[4] rs71012280
NM_022124.6(CDH23):c.-55G>A
NM_022124.6(CDH23):c.-6+13A>C
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) rs746750273
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) rs745358868
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.6(CDH23):c.1134+13A>G rs7903502
NM_022124.6(CDH23):c.1140+14T>C
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) rs369803887
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile)
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410
NM_022124.6(CDH23):c.1450-10G>A rs751220612
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947
NM_022124.6(CDH23):c.1515-12G>A rs369396703
NM_022124.6(CDH23):c.1566C>T (p.Asp522=)
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) rs776970952
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala)
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) rs756958499
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.1858+6T>C rs745522676
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957
NM_022124.6(CDH23):c.1986+10C>A
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.2038G>A (p.Val680Met)
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.6(CDH23):c.2059+6G>A rs727502923
NM_022124.6(CDH23):c.205G>A (p.Val69Met)
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663
NM_022124.6(CDH23):c.2176+12C>T rs371967419
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.2289+1G>A rs769433759
NM_022124.6(CDH23):c.2289C>T (p.Thr763=)
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.2290-3C>T
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) rs886047132
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala)
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) rs373305209
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330
NM_022124.6(CDH23):c.28C>T (p.His10Tyr)
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val)
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099
NM_022124.6(CDH23):c.2953+10C>T rs781572688
NM_022124.6(CDH23):c.2954-14G>A rs191534381
NM_022124.6(CDH23):c.2954-15C>T rs376377077
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=)
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320
NM_022124.6(CDH23):c.3106+11G>A
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) rs886047133
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606
NM_022124.6(CDH23):c.324C>T (p.Ser108=) rs373668614
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631
NM_022124.6(CDH23):c.3369+12G>A rs187975106
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn)
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391
NM_022124.6(CDH23):c.3580-12C>T rs73275848
NM_022124.6(CDH23):c.3580-13C>T rs150894638
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.3619G>A (p.Val1207Met) rs111033488
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=)
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.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.3839_3841TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) rs762247872
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) rs752442832
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096
NM_022124.6(CDH23):c.4210-12G>A
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.4210-7C>T rs79271090
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)
NM_022124.6(CDH23):c.429+13G>A rs3802719
NM_022124.6(CDH23):c.429+4G>A rs397517328
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) rs544278944
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=)
NM_022124.6(CDH23):c.4359+11G>A rs12242607
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) rs756674688
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met)
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) rs886047137
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560
NM_022124.6(CDH23):c.4846-16805A>C rs3747869
NM_022124.6(CDH23):c.4846-4260A>G rs3747862
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val)
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) rs886047138
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser)
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022124.6(CDH23):c.5067+15G>A rs367928867
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp) rs201763918
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) rs759706770
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) rs371522191
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=) rs749913488
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157
NM_022124.6(CDH23):c.5503-10A>G rs2394839
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) rs188078418
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.559G>A (p.Val187Ile)
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn)
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln)
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp)
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met) rs372981760
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=)
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.6(CDH23):c.5821-13C>T rs117317626
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) rs762382800
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=)
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu)
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=) rs368155422
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) rs776269225
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu)
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072
NM_022124.6(CDH23):c.67+12C>T rs74144963
NM_022124.6(CDH23):c.67+8C>T rs186548927
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495
NM_022124.6(CDH23):c.699C>T (p.Asp233=)
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=)
NM_022124.6(CDH23):c.7054+6T>C
NM_022124.6(CDH23):c.7055-15G>A rs371872394
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354
NM_022124.6(CDH23):c.7225-11C>G
NM_022124.6(CDH23):c.7362+14G>A rs78158757
NM_022124.6(CDH23):c.7362+5G>A rs727502931
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe)
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=)
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374
NM_022124.6(CDH23):c.7661-8A>G rs754067214
NM_022124.6(CDH23):c.7661-9C>T rs577559462
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) rs886047141
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.789G>A (p.Gln263=)
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) rs749342092
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly)
NM_022124.6(CDH23):c.8064+13C>A
NM_022124.6(CDH23):c.8065-5C>A
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=)
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352
NM_022124.6(CDH23):c.8309-3C>T rs371910002
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His)
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) rs886047130
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys)
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) rs185818081
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) rs371286324
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys)
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) rs373602652
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His)
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) rs746716712
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726
NM_022124.6(CDH23):c.8979+13C>T rs886047142
NM_022124.6(CDH23):c.8980-12C>T rs111583276
NM_022124.6(CDH23):c.8980-14C>A rs45522532
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met)
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) rs188966938
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.6(CDH23):c.9077+7C>T rs76114420
NM_022124.6(CDH23):c.9077+8G>A rs11818398
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln)
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609
NM_022124.6(CDH23):c.9198+13C>T rs375384238
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His)
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.945+1G>A rs727502919
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.6(CDH23):c.9510+13C>T rs183692794
NM_022124.6(CDH23):c.9510+14G>A
NM_022124.6(CDH23):c.9510+14G>T
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9511-7T>C rs531195164
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.6(CDH23):c.9633+14G>A
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457
NM_022124.6(CDH23):c.968G>A (p.Arg323His)
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp)
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly)
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg)
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=)
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del) rs1557720377
NM_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.*101T>C
NM_032119.4(ADGRV1):c.*124C>T
NM_032119.4(ADGRV1):c.*17C>T
NM_032119.4(ADGRV1):c.*18G>C
NM_032119.4(ADGRV1):c.*193G>A
NM_032119.4(ADGRV1):c.*259A>G
NM_032119.4(ADGRV1):c.*270C>A
NM_032119.4(ADGRV1):c.*60A>G
NM_032119.4(ADGRV1):c.-44C>T rs192362302
NM_032119.4(ADGRV1):c.-47G>C rs116110048
NM_032119.4(ADGRV1):c.-67A>T
NM_032119.4(ADGRV1):c.-98G>A rs7706355
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) rs10067636
NM_032119.4(ADGRV1):c.10053+9A>G
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val)
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser)
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=)
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.10440A>T (p.Ser3480=)
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter) rs1580905929
NM_032119.4(ADGRV1):c.10517G>A (p.Arg3506Lys)
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=) rs201475256
NM_032119.4(ADGRV1):c.10550-7C>T rs191228562
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=) rs182626712
NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=) rs756805245
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys) rs778286042
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala)
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336
NM_032119.4(ADGRV1):c.11122-1G>C rs1561660434
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=)
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu) rs759908554
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=) rs201453118
NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=)
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val)
NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr)
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs) rs1581041519
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter) rs1366388721
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=)
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile)
NM_032119.4(ADGRV1):c.1239-8C>G rs869312178
NM_032119.4(ADGRV1):c.12403+1G>T rs527236132
NM_032119.4(ADGRV1):c.12425G>A (p.Arg4142Gln)
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) rs369793306
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) rs765063091
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro) rs200805176
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn)
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=) rs727503080
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016
NM_032119.4(ADGRV1):c.1252A>G (p.Thr418Ala)
NM_032119.4(ADGRV1):c.12536G>A (p.Arg4179Gln)
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) rs200957385
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser) rs397517420
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg)
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=) rs201777525
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu) rs571603222
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) rs200584854
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=) rs368171530
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=) rs368497021
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867
NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=) rs375468899
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu)
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr)
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) rs765376986
NM_032119.4(ADGRV1):c.1367T>C (p.Leu456Pro)
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val)
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=)
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg)
NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe)
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter)
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val) rs765672841
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408
NM_032119.4(ADGRV1):c.14043+7C>T rs563519322
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) rs1057519383
NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu)
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter) rs1561740143
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe)
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) rs534266547
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=) rs727504605
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=) rs117641264
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs) rs1581135405
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) rs1554117973
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) rs61731030
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.4(ADGRV1):c.14901T>C (p.Pro4967=)
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035
NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=)
NM_032119.4(ADGRV1):c.1510-7A>T rs182260529
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) rs756275299
NM_032119.4(ADGRV1):c.15394G>A (p.Gly5132Arg)
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly)
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509
NM_032119.4(ADGRV1):c.15476C>T (p.Thr5159Ile)
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs) rs1581196586
NM_032119.4(ADGRV1):c.15496A>T (p.Thr5166Ser)
NM_032119.4(ADGRV1):c.15497C>T (p.Thr5166Met)
NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=)
NM_032119.4(ADGRV1):c.15560C>T (p.Ala5187Val)
NM_032119.4(ADGRV1):c.15583C>T (p.Leu5195Phe)
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val)
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) rs527236131
NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His)
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His) rs747856236
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter) rs1561416879
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter) rs377650415
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) rs1561790371
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) rs41304884
NM_032119.4(ADGRV1):c.16197-1G>T rs1561805689
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378
NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=)
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser)
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn) rs772117132
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939
NM_032119.4(ADGRV1):c.16677T>C (p.Phe5559=)
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile) rs201677553
NM_032119.4(ADGRV1):c.1678A>G (p.Ile560Val)
NM_032119.4(ADGRV1):c.16826A>T (p.Asp5609Val)
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser) rs61748627
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val) rs201767389
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln)
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.17024C>T (p.Thr5675Ile)
NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala)
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
NM_032119.4(ADGRV1):c.1707A>C (p.Gln569His)
NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys)
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459
NM_032119.4(ADGRV1):c.17188G>T (p.Gly5730Cys)
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter) rs1561843914
NM_032119.4(ADGRV1):c.17204+12T>C
NM_032119.4(ADGRV1):c.17204+4A>G rs376691612
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) rs749894314
NM_032119.4(ADGRV1):c.17455-6T>C
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=)
NM_032119.4(ADGRV1):c.17595-4C>T
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870
NM_032119.4(ADGRV1):c.17667C>G (p.His5889Gln)
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736
NM_032119.4(ADGRV1):c.17974-1G>C rs1581711527
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=) rs766197164
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys) rs121909763
NM_032119.4(ADGRV1):c.18153-13A>T
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=) rs562067191
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) rs774124713
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700
NM_032119.4(ADGRV1):c.18433-13T>C
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser) rs200111522
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944
NM_032119.4(ADGRV1):c.18479G>T (p.Cys6160Phe)
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872
NM_032119.4(ADGRV1):c.18515A>G (p.Asn6172Ser)
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=)
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=) rs752223599
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) rs376904160
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612
NM_032119.4(ADGRV1):c.18610G>A (p.Gly6204Ser)
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro)
NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=)
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer) rs796051865
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902
NM_032119.4(ADGRV1):c.18803-4G>T rs80335659
NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=) rs369528456
NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val)
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=) rs9293547
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
NM_032119.4(ADGRV1):c.207+3A>G rs142356935
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu) rs200897149
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs) rs796051866
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe)
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter) rs1561441451
NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala)
NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=)
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305
NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=)
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=)
NM_032119.4(ADGRV1):c.2539G>A (p.Asp847Asn)
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640
NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg)
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr)
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) rs759771981
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) rs1580567084
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=)
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp)
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile)
NM_032119.4(ADGRV1):c.3022+8T>C rs375286987
NM_032119.4(ADGRV1):c.3022+9G>C
NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=)
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro)
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs) rs1439933768
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=) rs201516498
NM_032119.4(ADGRV1):c.3185T>C (p.Ile1062Thr)
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp)
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr) rs761253411
NM_032119.4(ADGRV1):c.3416+9A>G
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935
NM_032119.4(ADGRV1):c.3731T>C (p.Leu1244Ser)
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333
NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro)
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=)
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)
NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=)
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949
NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val)
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) rs1561464218
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val)
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=) rs111033484
NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=) rs373730163
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys) rs1580609185
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) rs794727329
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119
NM_032119.4(ADGRV1):c.4378+11T>C
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu)
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930
NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=)
NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=)
NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=)
NM_032119.4(ADGRV1):c.4929+6C>A
NM_032119.4(ADGRV1):c.4930-13T>C
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly)
NM_032119.4(ADGRV1):c.4977G>A (p.Glu1659=)
NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly)
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553
NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=) rs189232336
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346
NM_032119.4(ADGRV1):c.5313+4A>G rs748976832
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=) rs10067298
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs) rs796051867
NM_032119.4(ADGRV1):c.5522G>A (p.Arg1841His)
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) rs771317730
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394
NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg)
NM_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile)
NM_032119.4(ADGRV1):c.5674C>T (p.His1892Tyr)
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=)
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889
NM_032119.4(ADGRV1):c.5776C>A (p.Gln1926Lys)
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552
NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr)
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5800G>C (p.Glu1934Gln)
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val)
NM_032119.4(ADGRV1):c.6062T>C (p.Met2021Thr)
NM_032119.4(ADGRV1):c.6083C>T (p.Pro2028Leu)
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=) rs75019370
NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=) rs376325671
NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe)
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val)
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro) rs181475191
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln) rs149390094
NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met)
NM_032119.4(ADGRV1):c.6491-10G>A
NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met)
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys)
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu)
NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val)
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=) rs760814922
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.4(ADGRV1):c.6951+13G>A rs143356203
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs) rs1276890742
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=) rs202030777
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln)
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430
NM_032119.4(ADGRV1):c.7264C>T (p.Leu2422Phe)
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584
NM_032119.4(ADGRV1):c.7334A>G (p.Lys2445Arg)
NM_032119.4(ADGRV1):c.7464G>C (p.Arg2488Ser)
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=)
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) rs886039893
NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys)
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile)
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr)
NM_032119.4(ADGRV1):c.777T>C (p.Asn259=) rs775845081
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053
NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=)
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter) rs1561543496
NM_032119.4(ADGRV1):c.7892C>G (p.Ala2631Gly)
NM_032119.4(ADGRV1):c.7893T>C (p.Ala2631=)
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305
NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=)
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala)
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=)
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779
NM_032119.4(ADGRV1):c.8156-4G>A
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060
NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=)
NM_032119.4(ADGRV1):c.8287-1G>C
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) rs751129081
NM_032119.4(ADGRV1):c.8386+12T>C
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517
NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val)
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs) rs796051863
NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=)
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=)
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs) rs796051864
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) rs1554090072
NM_032119.4(ADGRV1):c.8824+10G>A rs180693049
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207
NM_032119.4(ADGRV1):c.9143C>G (p.Thr3048Arg)
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val) rs759038879
NM_032119.4(ADGRV1):c.9182T>G (p.Ile3061Arg)
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) rs1580845586
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270
NM_032119.4(ADGRV1):c.9314G>A (p.Arg3105Gln)
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219
NM_032119.4(ADGRV1):c.9448-14G>A
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr)
NM_032119.4(ADGRV1):c.9624-4T>A
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter) rs267600727
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032
NM_032119.4(ADGRV1):c.9748+2T>C rs1580864592
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met)
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=)
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042
NM_032119.4(ADGRV1):c.9992A>G (p.Asn3331Ser)
NM_033056.4(PCDH15):c.*109A>G
NM_033056.4(PCDH15):c.*127dup rs548021914
NM_033056.4(PCDH15):c.*135T>C rs886047058
NM_033056.4(PCDH15):c.*147_*150dup rs886047057
NM_033056.4(PCDH15):c.*268_*269del rs886047056
NM_033056.4(PCDH15):c.*366G>A rs187860910
NM_033056.4(PCDH15):c.*389G>A rs886047055
NM_033056.4(PCDH15):c.*414G>C rs16937780
NM_033056.4(PCDH15):c.*421C>T rs74134797
NM_033056.4(PCDH15):c.*459A>G
NM_033056.4(PCDH15):c.*486G>A rs549184328
NM_033056.4(PCDH15):c.*510T>C
NM_033056.4(PCDH15):c.*512G>C rs571779869
NM_033056.4(PCDH15):c.*558T>A rs886047054
NM_033056.4(PCDH15):c.*600C>A
NM_033056.4(PCDH15):c.*64A>T rs188426462
NM_033056.4(PCDH15):c.*73C>T
NM_033056.4(PCDH15):c.*93T>C
NM_033056.4(PCDH15):c.-126G>A rs551107079
NM_033056.4(PCDH15):c.-155G>C rs886047069
NM_033056.4(PCDH15):c.-180C>T rs375866561
NM_033056.4(PCDH15):c.-288T>C rs566733932
NM_033056.4(PCDH15):c.-5A>G rs142016527
NM_033056.4(PCDH15):c.-5_-3AGA[1] (p.Met1del) rs1555135527
NM_033056.4(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904
NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.4(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_033056.4(PCDH15):c.1098+14A>G rs764625426
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
NM_033056.4(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_033056.4(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450
NM_033056.4(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936
NM_033056.4(PCDH15):c.1179A>G (p.Pro393=)
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1220C>T (p.Ser407Phe) rs886047067
NM_033056.4(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620
NM_033056.4(PCDH15):c.1263T>C (p.Thr421=) rs7921598
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.4(PCDH15):c.1305+1G>A rs758947077
NM_033056.4(PCDH15):c.1305+1G>C rs758947077
NM_033056.4(PCDH15):c.1305+1del rs1554833699
NM_033056.4(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146
NM_033056.4(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.4(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.4(PCDH15):c.1373G>A (p.Gly458Asp)
NM_033056.4(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_033056.4(PCDH15):c.1440+11T>G
NM_033056.4(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_033056.4(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_033056.4(PCDH15):c.146A>G (p.Glu49Gly)
NM_033056.4(PCDH15):c.157+1G>C rs1057516770
NM_033056.4(PCDH15):c.157+3A>G rs41274636
NM_033056.4(PCDH15):c.157+59097T>C rs75443986
NM_033056.4(PCDH15):c.158-16930T>C rs207470941
NM_033056.4(PCDH15):c.158-1G>A rs876657418
NM_033056.4(PCDH15):c.158-2A>T rs1304228309
NM_033056.4(PCDH15):c.1590+15A>G rs565203752
NM_033056.4(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006
NM_033056.4(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_033056.4(PCDH15):c.1631T>G (p.Ile544Ser) rs886047066
NM_033056.4(PCDH15):c.1635_1636AT[1] (p.Thr545_Tyr546insTer) rs1554816541
NM_033056.4(PCDH15):c.1643T>G (p.Ile548Ser)
NM_033056.4(PCDH15):c.1649T>G (p.Val550Gly) rs61735482
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.4(PCDH15):c.1757C>T (p.Ala586Val)
NM_033056.4(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_033056.4(PCDH15):c.1780C>A (p.Arg594=)
NM_033056.4(PCDH15):c.1785-2A>C rs1057516474
NM_033056.4(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_033056.4(PCDH15):c.1808T>C (p.Ile603Thr)
NM_033056.4(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_033056.4(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888
NM_033056.4(PCDH15):c.1917+2T>C rs1554806149
NM_033056.4(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.1934G>T (p.Gly645Val) rs763226433
NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_033056.4(PCDH15):c.1997+1G>T rs763797356
NM_033056.4(PCDH15):c.1997C>T (p.Thr666Ile)
NM_033056.4(PCDH15):c.1998-2A>G rs397517452
NM_033056.4(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_033056.4(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_033056.4(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_033056.4(PCDH15):c.2091+2T>C rs1554956023
NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) rs199537178
NM_033056.4(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515
NM_033056.4(PCDH15):c.2220+9A>G rs886047065
NM_033056.4(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) rs781148814
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.4(PCDH15):c.2445C>T (p.Asn815=) rs768200772
NM_033056.4(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_033056.4(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) rs142512524
NM_033056.4(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_033056.4(PCDH15):c.2685G>C (p.Leu895=)
NM_033056.4(PCDH15):c.2709A>G (p.Gly903=) rs886047064
NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826
NM_033056.4(PCDH15):c.2723G>A (p.Gly908Asp)
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_033056.4(PCDH15):c.2751+2T>C rs754543131
NM_033056.4(PCDH15):c.2768C>T (p.Pro923Leu) rs191577774
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.4(PCDH15):c.2807C>T (p.Ala936Val) rs369029215
NM_033056.4(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066
NM_033056.4(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_033056.4(PCDH15):c.2869-1G>T rs1554883705
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_033056.4(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_033056.4(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_033056.4(PCDH15):c.3122+2T>A rs1554882546
NM_033056.4(PCDH15):c.3123-1G>A rs1554873550
NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.4(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_033056.4(PCDH15):c.3233-2A>G rs1554872194
NM_033056.4(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_033056.4(PCDH15):c.3313C>A (p.Leu1105Ile)
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_033056.4(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_033056.4(PCDH15):c.3374-1G>T rs1554852472
NM_033056.4(PCDH15):c.3374-4C>T rs111739360
NM_033056.4(PCDH15):c.3416_3418ATC[1] (p.His1140del) rs1554852410
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3450C>A (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3456T>C (p.Gly1152=) rs202091131
NM_033056.4(PCDH15):c.3501+13A>G rs727503365
NM_033056.4(PCDH15):c.3501+1G>T rs1402893508
NM_033056.4(PCDH15):c.3501+7G>T rs756402556
NM_033056.4(PCDH15):c.3502-10del rs750835578
NM_033056.4(PCDH15):c.3502-2A>G rs1554836566
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3555A>G (p.Ile1185Met)
NM_033056.4(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_033056.4(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_033056.4(PCDH15):c.3717+1G>A rs748706627
NM_033056.4(PCDH15):c.3717+2dup rs1248401224
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.4(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_033056.4(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
NM_033056.4(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_033056.4(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.4(PCDH15):c.3806+1G>C rs1554833227
NM_033056.4(PCDH15):c.3806+2T>C rs756692340
NM_033056.4(PCDH15):c.3807-2A>G rs1328440878
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_033056.4(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_033056.4(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_033056.4(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033056.4(PCDH15):c.3983+2dup rs1554827124
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.3984-2A>G rs1554824185
NM_033056.4(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_033056.4(PCDH15):c.400C>A (p.Arg134=)
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449
NM_033056.4(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_033056.4(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783
NM_033056.4(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_033056.4(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_033056.4(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_033056.4(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_033056.4(PCDH15):c.4202+5G>A rs886047063
NM_033056.4(PCDH15):c.4211+1G>A rs1554823229
NM_033056.4(PCDH15):c.4211+1del rs1554823231
NM_033056.4(PCDH15):c.4211+2T>G rs753832779
NM_033056.4(PCDH15):c.4211+2dup rs1057517419
NM_033056.4(PCDH15):c.4214G>A (p.Arg1405His) rs143538460
NM_033056.4(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_033056.4(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_033056.4(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_033056.4(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_033056.4(PCDH15):c.4260C>T (p.Pro1420=) rs775658931
NM_033056.4(PCDH15):c.4272A>G (p.Pro1424=) rs759109238
NM_033056.4(PCDH15):c.4275A>C (p.Ala1425=)
NM_033056.4(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_033056.4(PCDH15):c.4308_4310GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_033056.4(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.4367+1G>A rs1057516613
NM_033056.4(PCDH15):c.4367+2T>C rs1554822703
NM_033056.4(PCDH15):c.4368-14TCTTT[3] rs1452730552
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4368-76C>T rs375657329
NM_033056.4(PCDH15):c.4368-77G>A rs776152870
NM_033056.4(PCDH15):c.4368-77del rs1554821197
NM_033056.4(PCDH15):c.4368-79_4368-76del rs1554821194
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg)
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4435_4437CAA[1] (p.Gln1480del) rs1358121247
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_033056.4(PCDH15):c.466G>C (p.Val156Leu) rs534173969
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4724_4726dup (p.Gln1576_Ser1577insArg) rs762814533
NM_033056.4(PCDH15):c.4725_4728TCAG[4] (p.Leu1580fs) rs770063261
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160
NM_033056.4(PCDH15):c.4895_4897dup (p.Leu1633_Thr1634insTyr) rs1554820541
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.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4964_4965CT[3] (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.4993C>A (p.Pro1665Thr) rs886047062
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5134_5135CT[5] (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile) rs772619593
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.526G>A (p.Ala176Thr)
NM_033056.4(PCDH15):c.5272_5274CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272_5274CCT[4] (p.Pro1760dup) rs754779351
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1]) rs397517465
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met) rs886047061
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5363_5368TTCCTC[3] (p.1788_1789LP[3]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
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.5510C>T (p.Ser1837Phe)
NM_033056.4(PCDH15):c.5511_5512CA[1] (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys) rs371269732
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.4(PCDH15):c.5600_5603delinsT (p.Thr1867_Thr1868delinsMet) rs1554819686
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894
NM_033056.4(PCDH15):c.5628_5629GA[2] (p.Glu1878fs) rs794727570
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.575A>G (p.Gln192Arg) rs201496062
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys)
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980
NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu) rs145232643
NM_033056.4(PCDH15):c.594+1G>T rs1057516470
NM_033056.4(PCDH15):c.594G>A (p.Pro198=) rs368308772
NM_033056.4(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_033056.4(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_033056.4(PCDH15):c.705+1G>A rs1554903842
NM_033056.4(PCDH15):c.705+2_705+3insTT rs1554903836
NM_033056.4(PCDH15):c.706-17_706-14del rs886047068
NM_033056.4(PCDH15):c.706-8C>T rs10740579
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.4(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_033056.4(PCDH15):c.833G>A (p.Arg278His)
NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_033056.4(PCDH15):c.851C>T (p.Ala284Val) rs777071595
NM_033056.4(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_033056.4(PCDH15):c.8G>A (p.Arg3Gln)
NM_033056.4(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_033056.4(PCDH15):c.92-515T>G rs1283842168
NM_033056.4(PCDH15):c.942A>G (p.Gln314=) rs149481989
NM_033056.4(PCDH15):c.944C>T (p.Pro315Leu)
NM_033056.4(PCDH15):c.952G>C (p.Asp318His)
NM_033056.4(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_033056.4(PCDH15):c.986-11A>G
NM_052995.2(CLRN1):c.*107T>C
NM_052995.2(CLRN1):c.*178G>A
NM_052995.2(CLRN1):c.*246T>C rs374292166
NM_052995.2(CLRN1):c.*247C>T rs763746069
NM_052995.2(CLRN1):c.*81C>G rs769315815
NM_052995.2(CLRN1):c.*97T>C
NM_052995.2(CLRN1):c.-103dup rs1553772899
NM_052995.2(CLRN1):c.-16_-3del rs1553772861
NM_052995.2(CLRN1):c.-28del rs1211060908
NM_052995.2(CLRN1):c.-32del rs1032160668
NM_052995.2(CLRN1):c.-49C>T rs758741442
NM_052995.2(CLRN1):c.108C>G (p.Thr36=) rs565400473
NM_052995.2(CLRN1):c.121_130del (p.Ala41fs) rs1576631624
NM_052995.2(CLRN1):c.131T>A (p.Met44Lys) rs121908141
NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) rs374963432
NM_052995.2(CLRN1):c.144del (p.Phe48fs) rs1553772595
NM_052995.2(CLRN1):c.179G>A (p.Gly60Glu) rs779258184
NM_052995.2(CLRN1):c.183G>A (p.Leu61=)
NM_052995.2(CLRN1):c.205+1061A>T rs567709615
NM_052995.2(CLRN1):c.205+1102G>T rs1553772414
NM_052995.2(CLRN1):c.205+1G>A rs201205811
NM_052995.2(CLRN1):c.205+2dup rs1057516687
NM_052995.2(CLRN1):c.206-3C>A
NM_052995.2(CLRN1):c.209C>A (p.Ser70Tyr) rs201625237
NM_052995.2(CLRN1):c.221T>C (p.Leu74Pro) rs121908142
NM_052995.2(CLRN1):c.228_230del (p.Met76del) rs1553770929
NM_052995.2(CLRN1):c.231_233del (p.Ile77_Leu78delinsMet) rs1085307049
NM_052995.2(CLRN1):c.245A>G (p.Glu82Gly) rs369185342
NM_052995.2(CLRN1):c.25+2T>C rs778574679
NM_052995.2(CLRN1):c.274A>T (p.Ile92Phe)
NM_052995.2(CLRN1):c.274dup (p.Ile92fs) rs746523071
NM_052995.2(CLRN1):c.2T>G (p.Met1Arg) rs963890618
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140
NM_052995.2(CLRN1):c.313C>T (p.Gln105Ter) rs376155416
NM_052995.2(CLRN1):c.342+138C>G
NM_052995.2(CLRN1):c.342+219A>G rs780643561
NM_052995.2(CLRN1):c.342+222T>C
NM_052995.2(CLRN1):c.342+244G>A rs182501934
NM_052995.2(CLRN1):c.342+378G>A
NM_052995.2(CLRN1):c.342+394AT[5] rs550716419
NM_052995.2(CLRN1):c.342+404A>G rs570356810
NM_052995.2(CLRN1):c.342+406G>A rs200685524
NM_052995.2(CLRN1):c.342+406GT[11] rs34027634
NM_052995.2(CLRN1):c.342+406GT[12] rs34027634
NM_052995.2(CLRN1):c.342+406GT[13] rs34027634
NM_052995.2(CLRN1):c.342+406GT[15] rs34027634
NM_052995.2(CLRN1):c.342+406GT[16] rs34027634
NM_052995.2(CLRN1):c.342+427T>C
NM_052995.2(CLRN1):c.342+436G>T rs886058091
NM_052995.2(CLRN1):c.342+444C>T rs1456138
NM_052995.2(CLRN1):c.342+501C>T rs4680058
NM_052995.2(CLRN1):c.342+554G>A rs778645950
NM_052995.2(CLRN1):c.343-100C>T rs16863066
NM_052995.2(CLRN1):c.343-180A>C rs12635299
NM_052995.2(CLRN1):c.343-208G>A rs748935256
NM_052995.2(CLRN1):c.343-229G>T
NM_052995.2(CLRN1):c.343-249T>C
NM_052995.2(CLRN1):c.343-25A>T rs200446881
NM_052995.2(CLRN1):c.343-26G>A rs201534956
NM_052995.2(CLRN1):c.343-32T>C
NM_052995.2(CLRN1):c.343-37T>G
NM_052995.2(CLRN1):c.343-472G>C
NM_052995.2(CLRN1):c.343-527T>C
NM_052995.2(CLRN1):c.3G>A (p.Met1Ile) rs780023517
NM_052995.2(CLRN1):c.63C>T (p.Ile21=) rs1231233910
NM_052995.2(CLRN1):c.73_77del (p.Val25fs) rs397517932
NM_052995.2(CLRN1):c.95T>C (p.Leu32Pro) rs1559982739
NM_153676.4(USH1C):c.*110C>G
NM_153676.4(USH1C):c.*117C>G
NM_153676.4(USH1C):c.*131G>C
NM_153676.4(USH1C):c.*140C>T rs886048058
NM_153676.4(USH1C):c.*186C>T rs1055577
NM_153676.4(USH1C):c.*211A>G rs1055581
NM_153676.4(USH1C):c.*241C>G
NM_153676.4(USH1C):c.*376A>C rs886048057
NM_153676.4(USH1C):c.*405C>G rs11827649
NM_153676.4(USH1C):c.*419_*420insAACA rs10626485
NM_153676.4(USH1C):c.*427T>C
NM_153676.4(USH1C):c.*42C>T rs16934270
NM_153676.4(USH1C):c.*46T>C rs1055574
NM_153676.4(USH1C):c.*95C>T rs552838747
NM_153676.4(USH1C):c.-109A>T
NM_153676.4(USH1C):c.-60T>C rs371444878
NM_153676.4(USH1C):c.-60T>G
NM_153676.4(USH1C):c.-71T>G rs571065113
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629
NM_153676.4(USH1C):c.104+1G>A rs1287021691
NM_153676.4(USH1C):c.105-4A>G rs201374986
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1085+7A>G
NM_153676.4(USH1C):c.1086-12G>A rs11024318
NM_153676.4(USH1C):c.1086-13G>T rs200490320
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.4(USH1C):c.1210+5G>A rs372285784
NM_153676.4(USH1C):c.1211-1106G>A
NM_153676.4(USH1C):c.1211-1129G>A rs35188020
NM_153676.4(USH1C):c.1211-1134G>A rs115931035
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
NM_153676.4(USH1C):c.1211-1175G>A rs143923730
NM_153676.4(USH1C):c.1211-1175G>C
NM_153676.4(USH1C):c.1211-1175del rs1207247951
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655
NM_153676.4(USH1C):c.1351_1356AAAGAG[1] (p.451_452KE[1]) rs1554957867
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Ser473_Glu474insTer) rs781176348
NM_153676.4(USH1C):c.1531-11A>G rs397517872
NM_153676.4(USH1C):c.1543_1551CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs) rs758580540
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) rs1554957020
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) rs1175090344
NM_153676.4(USH1C):c.1806del (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1806dup (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1807dup (p.Ile603fs) rs1554956941
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_153676.4(USH1C):c.192G>A (p.Pro64=) rs1040470628
NM_153676.4(USH1C):c.1954_1955CA[1] (p.His652fs) rs766725582
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)
NM_153676.4(USH1C):c.2014-1G>A rs150567427
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494
NM_153676.4(USH1C):c.2226+12C>T rs17703528
NM_153676.4(USH1C):c.2227-1G>A rs778110397
NM_153676.4(USH1C):c.2227-1G>T rs778110397
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.2253G>A (p.Lys751=)
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2265C>G (p.Leu755=) rs151251262
NM_153676.4(USH1C):c.2280+15G>A rs886048059
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2281-2A>G rs921755529
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
NM_153676.4(USH1C):c.2378A>G (p.His793Arg) rs868121889
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.248+1G>A rs1482487617
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489
NM_153676.4(USH1C):c.2490+12G>C rs2072232
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2490+6A>C
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2541T>C (p.Asp847=)
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.2547-1G>T rs571304936
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.2656-1G>A rs747133793
NM_153676.4(USH1C):c.2661_2663TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_153676.4(USH1C):c.36+1G>T rs1403777293
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942
NM_153676.4(USH1C):c.388-8T>A rs777486804
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148
NM_153676.4(USH1C):c.496C>T (p.His166Tyr) rs367996370
NM_153676.4(USH1C):c.497-2del rs1480243085
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.540C>T (p.Leu180=) rs145510974
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.570G>A (p.Ser190=) rs756709989
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934
NM_153676.4(USH1C):c.634G>A (p.Val212Ile) rs886048060
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.674+4G>A rs202095395
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.759+10G>T rs368528034
NM_153676.4(USH1C):c.760-1G>T rs1187887456
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.789C>G (p.Gly263=) rs376197674
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter) rs876657624
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.845G>A (p.Arg282His) rs779111365
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln) rs756485601
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly)
NM_153676.4(USH1C):c.877-1G>A rs771279169
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln) rs773481791
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys) rs200127622
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155
NM_173477.2(USH1G):c.*371delA
NM_173477.5(USH1G):c.*1018G>A rs780234900
NM_173477.5(USH1G):c.*1052C>T
NM_173477.5(USH1G):c.*1053G>A rs113583471
NM_173477.5(USH1G):c.*1093= rs690566
NM_173477.5(USH1G):c.*1098T>A
NM_173477.5(USH1G):c.*1112C>T
NM_173477.5(USH1G):c.*1119G>A rs182142592
NM_173477.5(USH1G):c.*1130T>C
NM_173477.5(USH1G):c.*1150_*1151TG[5] rs368387485
NM_173477.5(USH1G):c.*1154T>A
NM_173477.5(USH1G):c.*1168_*1169TG[6] rs746904393
NM_173477.5(USH1G):c.*1168_*1169TG[8] rs746904393
NM_173477.5(USH1G):c.*1174T>G
NM_173477.5(USH1G):c.*1191G>A
NM_173477.5(USH1G):c.*1224A>C rs111922548
NM_173477.5(USH1G):c.*1303C>T rs1013013
NM_173477.5(USH1G):c.*1376G>A
NM_173477.5(USH1G):c.*1447C>T
NM_173477.5(USH1G):c.*1656T>C rs8067775
NM_173477.5(USH1G):c.*1719G>T rs886053384
NM_173477.5(USH1G):c.*1732C>T rs886053383
NM_173477.5(USH1G):c.*1821C>G
NM_173477.5(USH1G):c.*1900G>C rs1568448
NM_173477.5(USH1G):c.*1903_*1905dup rs886053382
NM_173477.5(USH1G):c.*1922A>G
NM_173477.5(USH1G):c.*1987C>T rs886053381
NM_173477.5(USH1G):c.*198T>C
NM_173477.5(USH1G):c.*1990A>G rs113905467
NM_173477.5(USH1G):c.*202G>A rs557845589
NM_173477.5(USH1G):c.*233C>G
NM_173477.5(USH1G):c.*256C>T
NM_173477.5(USH1G):c.*279G>T rs886053387
NM_173477.5(USH1G):c.*482C>T
NM_173477.5(USH1G):c.*498G>A rs569461974
NM_173477.5(USH1G):c.*49C>T rs199648830
NM_173477.5(USH1G):c.*553A>C rs111899313
NM_173477.5(USH1G):c.*567C>G
NM_173477.5(USH1G):c.*571T>A rs111611253
NM_173477.5(USH1G):c.*63C>T rs113765180
NM_173477.5(USH1G):c.*680C>G
NM_173477.5(USH1G):c.*704G>A
NM_173477.5(USH1G):c.*776G>A
NM_173477.5(USH1G):c.*809C>A rs886053386
NM_173477.5(USH1G):c.*831C>T
NM_173477.5(USH1G):c.*940C>G
NM_173477.5(USH1G):c.*95C>G rs886053388
NM_173477.5(USH1G):c.-173G>C rs570755897
NM_173477.5(USH1G):c.-2C>T rs758940726
NM_173477.5(USH1G):c.-76A>G
NM_173477.5(USH1G):c.-8C>T rs769903865
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) rs1316299165
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) rs104894652
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser)
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) rs569032124
NM_173477.5(USH1G):c.1170C>T (p.Ser390=) rs199724052
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506
NM_173477.5(USH1G):c.126T>C (p.His42=)
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) rs104894651
NM_173477.5(USH1G):c.186_187del (p.Ile63fs) rs730880268
NM_173477.5(USH1G):c.205dup (p.Leu69fs) rs1598584825
NM_173477.5(USH1G):c.327C>T (p.Gly109=)
NM_173477.5(USH1G):c.344G>A (p.Arg115His) rs775117744
NM_173477.5(USH1G):c.348C>T (p.Tyr116=) rs886053390
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln)
NM_173477.5(USH1G):c.436C>T (p.Arg146Cys) rs141791769
NM_173477.5(USH1G):c.46C>G (p.Leu16Val) rs876657419
NM_173477.5(USH1G):c.474C>G (p.His158Gln) rs765860407
NM_173477.5(USH1G):c.478C>G (p.Arg160Gly) rs376527217
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631
NM_173477.5(USH1G):c.563G>T (p.Arg188Leu) rs201123735
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)
NM_173477.5(USH1G):c.644del (p.Lys215fs) rs1567940040
NM_173477.5(USH1G):c.753C>T (p.Ser251=) rs886053389
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.3368A>G rs775177930
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) rs1188025733
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.2:c.(?_4628)_(9371_?)del
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10151C>A (p.Ser3384Tyr) rs553202000
NM_206933.3(USH2A):c.10179del (p.Met3393fs) rs1553262411
NM_206933.3(USH2A):c.10183-1375_10387+1389del
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.3(USH2A):c.10317_10318delinsT (p.Ile3440fs) rs1553261898
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.3(USH2A):c.10388-1G>A rs1553261478
NM_206933.3(USH2A):c.10388-2A>G rs1553261479
NM_206933.3(USH2A):c.1040A>G (p.Asp347Gly) rs762384558
NM_206933.3(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941
NM_206933.3(USH2A):c.10465G>A (p.Ala3489Thr) rs1553261464
NM_206933.3(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.3(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718
NM_206933.3(USH2A):c.10586-2A>G rs370327669
NM_206933.3(USH2A):c.10596_10597insAT (p.Tyr3533fs) rs1553261387
NM_206933.3(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706
NM_206933.3(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.3(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.3(USH2A):c.10842_10845del (p.Glu3614fs) rs1553261118
NM_206933.3(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal) rs1553259182
NM_206933.3(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.3(USH2A):c.11231+1G>A rs111033382
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132
NM_206933.3(USH2A):c.11290dup (p.Ile3764fs) rs1553259060
NM_206933.3(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.3(USH2A):c.11389+1G>A rs368770647
NM_206933.3(USH2A):c.11389+1del rs1414935620
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.11390-2del rs760100733
NM_206933.3(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.3(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
NM_206933.3(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.3(USH2A):c.11434_11436del (p.Asn3812del) rs1553257704
NM_206933.3(USH2A):c.11534A>C (p.Gln3845Pro) rs1553257674
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.11687_11689TCA[2] (p.Ile3898del) rs727504714
NM_206933.3(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.3(USH2A):c.11703del (p.Phe3901fs) rs1553257497
NM_206933.3(USH2A):c.11712-2A>C rs753505333
NM_206933.3(USH2A):c.11712-2A>G rs753505333
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.11734dup (p.Glu3912fs) rs1553256587
NM_206933.3(USH2A):c.11815dup (p.Glu3939fs) rs1553256576
NM_206933.3(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) rs779791079
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.3(USH2A):c.12126_12128TGT[1] (p.Val4044del) rs1553252937
NM_206933.3(USH2A):c.12139_12147del (p.Asn4047_Ala4049del) rs1553252931
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703
NM_206933.3(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.3(USH2A):c.1246G>T (p.Ala416Ser) rs187897763
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387
NM_206933.3(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.3(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.3(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.3(USH2A):c.12737_12738delinsGG (p.Ala4246Gly) rs1553252489
NM_206933.3(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578
NM_206933.3(USH2A):c.12806C>G (p.Pro4269Arg) rs1553252475
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.12859_12863del (p.Pro4287fs) rs1553252469
NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.3(USH2A):c.13094G>A (p.Trp4365Ter) rs1163061829
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13168_13171TTAG[1] (p.Val4391fs) rs1553252409
NM_206933.3(USH2A):c.1316T>C (p.Leu439Pro) rs1558038097
NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13337delinsGTC (p.Asn4446fs) rs1553252389
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.1340A>G (p.Tyr447Cys) rs1553250638
NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406
NM_206933.3(USH2A):c.1346G>A (p.Arg449His) rs766715882
NM_206933.3(USH2A):c.13556del (p.Ile4518_Leu4519insTer) rs1553252363
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448
NM_206933.3(USH2A):c.13665_13667dup (p.Val4556dup) rs1553252347
NM_206933.3(USH2A):c.13700del (p.Leu4567fs) rs1212608410
NM_206933.3(USH2A):c.13750dup (p.Thr4584fs) rs1553252328
NM_206933.3(USH2A):c.13776G>C (p.Gln4592His) rs1350039852
NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136
NM_206933.3(USH2A):c.13811+1G>A rs1177257719
NM_206933.3(USH2A):c.13811+2T>C rs766515318
NM_206933.3(USH2A):c.13812-1G>A rs199782530
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.3(USH2A):c.1397G>T (p.Gly466Val) rs1553250627
NM_206933.3(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.3(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329
NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.3(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.3(USH2A):c.14204C>G (p.Pro4735Arg) rs1333608275
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14344-1G>A rs919142559
NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839
NM_206933.3(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.14582+1G>C rs1553250150
NM_206933.3(USH2A):c.14679del (p.Ala4894fs) rs1553250077
NM_206933.3(USH2A):c.14791+2T>A rs1553250050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.3(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858
NM_206933.3(USH2A):c.14965_14968dup (p.Thr4990fs) rs781625683
NM_206933.3(USH2A):c.14969-1G>A rs1553249311
NM_206933.3(USH2A):c.14970_14972CTT[1] (p.Phe4993del) rs1553249310
NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.3(USH2A):c.14995A>G (p.Thr4999Ala) rs1553249303
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.3(USH2A):c.15052+1G>A rs1553249290
NM_206933.3(USH2A):c.15115_15117del (p.Ser5039del) rs1553248836
NM_206933.3(USH2A):c.15147_15160del (p.Met5049fs) rs1553248832
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.15298-1176A>G rs144467375
NM_206933.3(USH2A):c.15298-18_15301dup rs1553248238
NM_206933.3(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.3(USH2A):c.15331_15333del (p.Thr5111del) rs766970587
NM_206933.3(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.3(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.3(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.3(USH2A):c.1541T>C (p.Ile514Thr) rs768813865
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.15577G>T (p.Glu5193Ter) rs1365989569
NM_206933.3(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.3(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.3(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.3(USH2A):c.1678C>G (p.Pro560Ala) rs147509797
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.3(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.3(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.3(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) rs781223647
NM_206933.3(USH2A):c.1935A>T (p.Thr645=) rs146670690
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.1A>G (p.Met1Val) rs924627806
NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.3(USH2A):c.206G>T (p.Ser69Ile) rs377254440
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-1G>C rs748961218
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.232T>G (p.Phe78Val) rs775094277
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2776C>T (p.Arg926Cys) rs749621457
NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+1G>A rs759433119
NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.3(USH2A):c.2994-2A>G rs1553316430
NM_206933.3(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.3(USH2A):c.3086G>T (p.Gly1029Val) rs768158580
NM_206933.3(USH2A):c.3158-2A>G rs878853404
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3317-1G>A rs1553313909
NM_206933.3(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.3(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.3(USH2A):c.3780T>C (p.His1260=) rs759937489
NM_206933.3(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292
NM_206933.3(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4070C>T (p.Thr1357Met) rs201190539
NM_206933.3(USH2A):c.4081+2T>C rs1553313505
NM_206933.3(USH2A):c.4082-2A>G rs1553313340
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.419C>A (p.Pro140His) rs759474177
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.4397-1G>A rs199982344
NM_206933.3(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.3(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.3(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_2069