NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs)
|
rs753591187
|
0.00072
|
NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs)
|
rs766167046
|
0.00072
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00018
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00015
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter)
|
rs201845656
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter)
|
rs746618021
|
0.00003
|
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg)
|
rs756460900
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
0.00001
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623
|
0.00001
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)
|
rs749314857
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del
|
|
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
|
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)
|
rs2135312491
|
|
NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs)
|
|
|
NM_000260.4(MYO7A):c.3275del (p.Gly1092fs)
|
|
|
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs)
|
rs1555090368
|
|
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg)
|
rs111033195
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.4017dup (p.Ala1340fs)
|
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079
|
|
NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs)
|
|
|
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del)
|
rs1555102843
|
|
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His)
|
rs1385324903
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
|
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)
|
rs121965081
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)
|
rs1568445893
|
|
NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)
|
|
|
NM_001384140.1(PCDH15):c.3984-6A>G
|
rs2077015569
|
|
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)
|
rs1560449207
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_015404.4(WHRN):c.1817del (p.Asp606fs)
|
|
|
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)
|
rs137852839
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs)
|
|
|
NM_022124.6(CDH23):c.1949dup (p.Leu651fs)
|
rs753886326
|
|
NM_022124.6(CDH23):c.2878dup (p.Glu960fs)
|
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys)
|
rs779425775
|
|
NM_022124.6(CDH23):c.8_9del (p.Arg3fs)
|
|
|
NM_032119.4(ADGRV1):c.10570C>T (p.Gln3524Ter)
|
|
|
NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter)
|
|
|
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)
|
rs1561740143
|
|
NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter)
|
|
|
NM_032119.4(ADGRV1):c.16041dup (p.Thr5348fs)
|
rs2150231769
|
|
NM_032119.4(ADGRV1):c.227del (p.Gly76fs)
|
|
|
NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter)
|
|
|
NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs)
|
|
|
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln)
|
rs369341309
|
|
NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter)
|
|
|
NM_033056.4(PCDH15):c.5861C>G (p.Ser1954Ter)
|
|
|
NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs)
|
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.777del (p.Glu260fs)
|
|
|
NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs)
|
|
|
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
|
rs1715589813
|
|
NM_174878.3(CLRN1):c.301_305del (p.Val101fs)
|
rs397517932
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
|
|
|
NM_206933.2(USH2A):c.4396+6857_6486-425del
|
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.11390-1G>A
|
rs2102727580
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter)
|
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)
|
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter)
|
|
|
NM_206933.4(USH2A):c.1803del (p.Gly602fs)
|
rs1553327452
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)
|
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs)
|
|
|
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)
|
|
|
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)
|
rs727504893
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter)
|
|
|
NM_206933.4(USH2A):c.7871del (p.Pro2624fs)
|
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
|
rs36108227
|
|
NM_206933.4(USH2A):c.956G>T (p.Cys319Phe)
|
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9945dup (p.Asn3316fs)
|
|
|