NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_022124.6(CDH23):c.2587+35C>T
|
rs186492861
|
0.00026
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00018
|
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_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
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.1A>G (p.Met1Val)
|
rs924627806
|
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.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met)
|
rs147267500
|
0.00005
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
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.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
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.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_000260.4(MYO7A):c.2905-1G>A
|
rs1171417339
|
0.00003
|
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
|
rs750647872
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)
|
rs979094623
|
0.00003
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
|
rs397517340
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)
|
rs369793306
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)
|
rs749956288
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)
|
rs1064793745
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
0.00002
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)
|
rs866352637
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
|
rs779165268
|
0.00002
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667
|
0.00002
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu)
|
rs377581131
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
0.00002
|
NM_173477.5(USH1G):c.46C>G (p.Leu16Val)
|
rs876657419
|
0.00002
|
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
NM_206933.4(USH2A):c.14344-1G>T
|
rs919142559
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
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.2187C>A (p.Cys729Ter)
|
rs757154662
|
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.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)
|
rs1284826852
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.1555-8C>G
|
rs1057517774
|
0.00001
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909
|
0.00001
|
NM_000260.4(MYO7A):c.1935+1G>C
|
rs1343207038
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter)
|
rs1461201353
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.224dup (p.Asp75fs)
|
rs1224819887
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)
|
rs782131913
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)
|
rs750358148
|
0.00001
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
0.00001
|
NM_000260.4(MYO7A):c.4569-1G>A
|
rs775792432
|
0.00001
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter)
|
rs1407313220
|
0.00001
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)
|
rs1453053718
|
0.00001
|
NM_000260.4(MYO7A):c.5857-2A>G
|
rs1555107286
|
0.00001
|
NM_000260.4(MYO7A):c.5945-1G>A
|
rs1268984037
|
0.00001
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428
|
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_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250
|
0.00001
|
NM_000260.4(MYO7A):c.849+5G>A
|
rs1060499716
|
0.00001
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+1G>T
|
rs982893820
|
0.00001
|
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)
|
rs1200451014
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-2A>G
|
rs1328440878
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.4206+1G>A
|
rs1204500829
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
|
rs556148352
|
0.00001
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867
|
0.00001
|
NM_032119.4(ADGRV1):c.13654-5C>T
|
rs367554300
|
0.00001
|
NM_032119.4(ADGRV1):c.14972+1G>T
|
rs780011571
|
0.00001
|
NM_032119.4(ADGRV1):c.9749-2del
|
rs1751549898
|
0.00001
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)
|
rs776511246
|
0.00001
|
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)
|
rs397517925
|
0.00001
|
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)
|
rs1380661508
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10586-2A>G
|
rs370327669
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly)
|
rs1341032857
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)
|
rs1262416703
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14791+5G>T
|
rs1235430504
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
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.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
NM_206933.4(USH2A):c.7594+2del
|
rs762608746
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NM_206933.4(USH2A):c.9959-1G>A
|
rs970237364
|
0.00001
|
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
|
|
|
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
|
|
|
NC_000001.10:g.(?_216011333)_(216040512_?)del
|
|
|
NC_000001.11:g.(?_216108034)_(216108100_?)del
|
|
|
NC_000001.11:g.(?_216462679)_(216462739_?)del
|
|
|
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
|
|
|
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
|
|
|
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
|
|
|
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
|
|
|
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
|
|
|
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
|
|
|
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
|
|
|
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
|
|
|
NC_000010.10:g.(73454017_73455174)_73468962del
|
|
|
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
|
|
|
NC_000010.11:g.(?_71645831)_(71646617_?)del
|
|
|
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs)
|
rs1555051390
|
|
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter)
|
rs1951307710
|
|
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs)
|
rs1591286221
|
|
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter)
|
rs1951308166
|
|
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
|
rs1555067598
|
|
NM_000260.4(MYO7A):c.117_132+6del
|
rs1555051567
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)
|
|
|
NM_000260.4(MYO7A):c.133-2A>C
|
rs782064437
|
|
NM_000260.4(MYO7A):c.1343+1G>A
|
rs914189193
|
|
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)
|
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter)
|
rs1953058015
|
|
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter)
|
rs1953066164
|
|
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)
|
|
|
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg)
|
rs797044492
|
|
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)
|
|
|
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)
|
|
|
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)
|
rs2135312491
|
|
NM_000260.4(MYO7A):c.1691-2A>G
|
rs1555072299
|
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
NM_000260.4(MYO7A):c.18+2T>A
|
rs564622720
|
|
NM_000260.4(MYO7A):c.1804del (p.Glu602fs)
|
rs2135406368
|
|
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter)
|
rs1954237712
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter)
|
rs1954248090
|
|
NM_000260.4(MYO7A):c.19-1G>A
|
rs111033426
|
|
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter)
|
rs1954250327
|
|
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
|
|
|
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)
|
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter)
|
rs1954477050
|
|
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)
|
|
|
NM_000260.4(MYO7A):c.1977del (p.Gly660fs)
|
rs1555078942
|
|
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)
|
|
|
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)
|
|
|
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)
|
|
|
NM_000260.4(MYO7A):c.2116del (p.Gln706fs)
|
|
|
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)
|
|
|
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs)
|
rs1555080760
|
|
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
|
|
|
NM_000260.4(MYO7A):c.2283-2_2293del
|
rs1555082041
|
|
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)
|
|
|
NM_000260.4(MYO7A):c.2355del (p.Asn786fs)
|
rs1591369118
|
|
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)
|
rs1555082145
|
|
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter)
|
rs1555082575
|
|
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)
|
|
|
NM_000260.4(MYO7A):c.2441del (p.Arg814fs)
|
|
|
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter)
|
rs1955017383
|
|
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter)
|
rs1407246264
|
|
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)
|
|
|
NM_000260.4(MYO7A):c.2648del (p.Glu883fs)
|
|
|
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)
|
|
|
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)
|
|
|
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)
|
|
|
NM_000260.4(MYO7A):c.2779del (p.Glu927fs)
|
|
|
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter)
|
rs1955177223
|
|
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter)
|
rs1955180601
|
|
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)
|
rs1296612982
|
|
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)
|
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2905-1G>C
|
rs1171417339
|
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
|
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)
|
|
|
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter)
|
rs1955281533
|
|
NM_000260.4(MYO7A):c.3109-2A>G
|
|
|
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)
|
rs1555061466
|
|
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)
|
rs116892396
|
|
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter)
|
rs1955333327
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter)
|
rs1307924861
|
|
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)
|
rs1555085978
|
|
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter)
|
rs1555051419
|
|
NM_000260.4(MYO7A):c.3504-1G>A
|
|
|
NM_000260.4(MYO7A):c.3504-2A>G
|
rs1555090168
|
|
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)
|
rs1555090196
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.3631-1G>C
|
rs1555090885
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)
|
|
|
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)
|
rs1555091636
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter)
|
rs1956130442
|
|
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)
|
|
|
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)
|
rs1555092993
|
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028
|
|
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.4126A>T (p.Lys1376Ter)
|
rs1956149175
|
|
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His)
|
rs2135577456
|
|
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter)
|
rs1956480240
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter)
|
rs1956485578
|
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070
|
|
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter)
|
rs1956496669
|
|
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)
|
|
|
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter)
|
rs1956761177
|
|
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter)
|
rs1956761416
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter)
|
rs1956843097
|
|
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)
|
rs1555100200
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs)
|
rs1555100315
|
|
NM_000260.4(MYO7A):c.471-1G>A
|
rs548172627
|
|
NM_000260.4(MYO7A):c.471-2A>C
|
|
|
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter)
|
rs1181067492
|
|
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)
|
rs1052030
|
|
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)
|
rs397516315
|
|
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs)
|
rs1555100603
|
|
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs)
|
rs1555100625
|
|
NM_000260.4(MYO7A):c.4852+2T>C
|
rs2135682219
|
|
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs)
|
rs1188637368
|
|
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)
|
rs1555101858
|
|
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)
|
rs1401619267
|
|
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs)
|
rs1591467918
|
|
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs)
|
rs1555102041
|
|
NM_000260.4(MYO7A):c.5043+1G>T
|
rs1555102147
|
|
NM_000260.4(MYO7A):c.5168+2T>C
|
rs1192104600
|
|
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)
|
|
|
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)
|
rs782347270
|
|
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter)
|
rs1591474980
|
|
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs)
|
rs1555103458
|
|
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)
|
rs1555103532
|
|
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)
|
|
|
NM_000260.4(MYO7A):c.5481-1G>C
|
rs1555105118
|
|
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter)
|
rs768418736
|
|
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)
|
rs1555105135
|
|
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)
|
|
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202
|
|
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter)
|
rs1957393464
|
|
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter)
|
rs1957431273
|
|
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter)
|
rs1406392019
|
|
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)
|
rs1555106609
|
|
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter)
|
rs1957520697
|
|
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs)
|
rs1555107555
|
|
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter)
|
rs1957642707
|
|
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter)
|
rs186644871
|
|
NM_000260.4(MYO7A):c.602del (p.Asn201fs)
|
|
|
NM_000260.4(MYO7A):c.6051+1G>A
|
rs1403288739
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro)
|
rs770778096
|
|
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter)
|
rs1957842461
|
|
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter)
|
rs530700420
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter)
|
rs1957851234
|
|
NM_000260.4(MYO7A):c.6238-1G>C
|
rs1957902751
|
|
NM_000260.4(MYO7A):c.6238-2A>C
|
rs1555109612
|
|
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)
|
|
|
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)
|
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter)
|
rs1952532000
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys)
|
rs2135244325
|
|
NM_000260.4(MYO7A):c.767del (p.Tyr256fs)
|
|
|
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter)
|
rs1555064033
|
|
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter)
|
rs2135244869
|
|
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)
|
|
|
NM_000260.4(MYO7A):c.83_84del (p.Val28fs)
|
|
|
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter)
|
rs1952585733
|
|
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter)
|
rs1952682554
|
|
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter)
|
rs782747153
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
NM_001142763.1:c.-189197_c.610-5166del
|
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001267727.2(ARSG):c.982+1G>C
|
|
|
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
|
|
|
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
|
|
|
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
|
|
|
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476
|
|
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
|
|
|
NM_001384140.1(PCDH15):c.1305+1G>A
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1G>C
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1del
|
rs1554833699
|
|
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
|
|
|
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
|
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.139del (p.Asp47fs)
|
rs1555032952
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
|
|
|
NM_001384140.1(PCDH15):c.1440+2T>C
|
rs1363688830
|
|
NM_001384140.1(PCDH15):c.1441-2A>C
|
rs758482449
|
|
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
|
|
|
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018
|
|
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
|
|
|
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
|
|
|
NM_001384140.1(PCDH15):c.157+1G>C
|
rs1057516770
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer)
|
rs1554816541
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs)
|
rs1057517150
|
|
NM_001384140.1(PCDH15):c.1784+1G>T
|
|
|
NM_001384140.1(PCDH15):c.1785-2A>C
|
rs1057516474
|
|
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1917+2T>C
|
rs1554806149
|
|
NM_001384140.1(PCDH15):c.1997+1G>T
|
rs763797356
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625
|
|
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter)
|
rs1554956088
|
|
NM_001384140.1(PCDH15):c.2091+2T>C
|
rs1554956023
|
|
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
|
|
|
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
|
|
|
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
|
|
|
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
|
|
|
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
|
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
|
|
|
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
|
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
|
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2869-1G>T
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
|
|
|
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
|
|
|
NM_001384140.1(PCDH15):c.299del (p.Gly100fs)
|
rs1554940316
|
|
NM_001384140.1(PCDH15):c.29del (p.Cys10fs)
|
rs1555135419
|
|
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs)
|
rs1057517284
|
|
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)
|
rs776416750
|
|
NM_001384140.1(PCDH15):c.3082del (p.His1028fs)
|
rs1057517325
|
|
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
|
|
|
NM_001384140.1(PCDH15):c.3122+1G>A
|
rs982893820
|
|
NM_001384140.1(PCDH15):c.3122+2T>A
|
rs1554882546
|
|
NM_001384140.1(PCDH15):c.3123-1G>A
|
rs1554873550
|
|
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
|
|
|
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
|
|
|
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
|
|
|
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs)
|
rs1057516974
|
|
NM_001384140.1(PCDH15):c.3232+1G>A
|
|
|
NM_001384140.1(PCDH15):c.3233-2A>G
|
rs1554872194
|
|
NM_001384140.1(PCDH15):c.323del (p.Pro108fs)
|
rs1554934073
|
|
NM_001384140.1(PCDH15):c.333dup (p.His112fs)
|
rs1057516992
|
|
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs)
|
rs1057516656
|
|
NM_001384140.1(PCDH15):c.3374-1G>T
|
rs1554852472
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
|
|
|
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
|
|
|
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs)
|
rs2133664431
|
|
NM_001384140.1(PCDH15):c.3501+1G>T
|
rs1402893508
|
|
NM_001384140.1(PCDH15):c.3502-2A>G
|
rs1554836566
|
|
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
|
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
|
|
|
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
|
|
|
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs)
|
rs1057516268
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs)
|
rs1554833314
|
|
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
|
|
|
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
|
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs)
|
rs1554833242
|
|
NM_001384140.1(PCDH15):c.3806+1G>C
|
rs1554833227
|
|
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs)
|
rs1057516780
|
|
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
|
|
|
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
|
|
|
NM_001384140.1(PCDH15):c.3984-1G>C
|
rs1057520709
|
|
NM_001384140.1(PCDH15):c.3984-2A>G
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
|
|
|
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
|
|
|
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
|
|
|
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs)
|
rs1057517182
|
|
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs)
|
rs1057516821
|
|
NM_001384140.1(PCDH15):c.4211+1G>A
|
rs1554823229
|
|
NM_001384140.1(PCDH15):c.4211+1del
|
rs1554823231
|
|
NM_001384140.1(PCDH15):c.4211+2dup
|
rs1057517419
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)
|
rs1554822897
|
|
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs)
|
rs1554822891
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs)
|
rs1057516351
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384140.1(PCDH15):c.4367+2T>C
|
rs1554822703
|
|
NM_001384140.1(PCDH15):c.475-2204_594+1766del
|
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384140.1(PCDH15):c.594+1G>T
|
rs1057516470
|
|
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
|
|
|
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter)
|
rs1554903979
|
|
NM_001384140.1(PCDH15):c.705+1G>A
|
rs1554903842
|
|
NM_001384140.1(PCDH15):c.705+5G>A
|
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
|
|
|
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
|
|
|
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
|
|
|
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)
|
rs903145299
|
|
NM_001384140.1(PCDH15):c.876+1G>C
|
rs2133646979
|
|
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048
|
|
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del)
|
rs756193571
|
|
NM_002109.6(HARS1):c.90+1G>C
|
rs1554109203
|
|
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)
|
|
|
NM_015404.4(WHRN):c.375del (p.Ala126fs)
|
rs751838091
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
|
|
|
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
|
|
|
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)
|
rs1554857840
|
|
NM_022124.6(CDH23):c.3220+1G>A
|
rs1487026359
|
|
NM_022124.6(CDH23):c.3431-1G>A
|
rs2132804878
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met)
|
rs377358096
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)
|
rs796051860
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.5067+1G>A
|
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
NM_022124.6(CDH23):c.5369-1G>A
|
rs1564791773
|
|
NM_022124.6(CDH23):c.5924-1G>A
|
rs1841212177
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs)
|
rs2132953243
|
|
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs)
|
rs2132953252
|
|
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)
|
rs2132954257
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.7225-1G>A
|
rs1064795722
|
|
NM_022124.6(CDH23):c.7978del (p.Asp2660fs)
|
rs2132983724
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8064+1G>A
|
rs1474524543
|
|
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
|
|
|
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
|
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
NM_022124.6(CDH23):c.9278+2T>A
|
|
|
NM_032119.3:c.16079-1455_c.16196+155del
|
|
|
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
|
|
|
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)
|
|
|
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)
|
rs1060499795
|
|
NM_032119.4(ADGRV1):c.10974+1G>A
|
rs1754560628
|
|
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)
|
rs2150063224
|
|
NM_032119.4(ADGRV1):c.1239-8C>G
|
rs869312178
|
|
NM_032119.4(ADGRV1):c.12403+1G>T
|
rs527236132
|
|
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)
|
rs1758488956
|
|
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
|
|
|
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
|
|
|
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)
|
rs1057519383
|
|
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)
|
rs1561740143
|
|
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)
|
rs1554117973
|
|
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter)
|
rs527236131
|
|
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)
|
rs1561790371
|
|
NM_032119.4(ADGRV1):c.16196+1G>T
|
rs1326895760
|
|
NM_032119.4(ADGRV1):c.16197-1G>T
|
rs1561805689
|
|
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)
|
rs1764301206
|
|
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)
|
rs1766797963
|
|
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
|
|
|
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)
|
rs1580567084
|
|
NM_032119.4(ADGRV1):c.2898+2T>C
|
|
|
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)
|
rs1060499796
|
|
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
|
|
|
NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter)
|
rs2149468550
|
|
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)
|
rs1580624630
|
|
NM_032119.4(ADGRV1):c.4752+2T>G
|
rs774386059
|
|
NM_032119.4(ADGRV1):c.5665-231C>T
|
|
|
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs)
|
rs1554081619
|
|
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
|
|
|
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter)
|
rs1053590019
|
|
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
|
|
|
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)
|
rs527236133
|
|
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)
|
rs2149642220
|
|
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)
|
rs1554090072
|
|
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)
|
rs2149715612
|
|
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)
|
rs1580845586
|
|
NM_033056.4(PCDH15):c.4368-15_4368-2del
|
rs1057516560
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del)
|
rs767526540
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
|
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_145200.5(CABP4):c.626G>T (p.Arg209Leu)
|
rs552701854
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.104+2T>C
|
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232
|
|
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
|
|
|
NM_153676.4(USH1C):c.2280+2T>C
|
rs1554954681
|
|
NM_153676.4(USH1C):c.2281-1G>A
|
rs1554954574
|
|
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
|
|
|
NM_153676.4(USH1C):c.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
|
|
|
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
|
|
|
NM_153676.4(USH1C):c.2490+1G>T
|
rs1554953746
|
|
NM_153676.4(USH1C):c.2490+2T>C
|
rs1554953745
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
|
|
|
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
|
|
|
NM_153676.4(USH1C):c.387+1G>A
|
|
|
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
|
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
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.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
|
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
|
|
|
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
|
|
|
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
|
|
|
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
|
|
|
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
|
|
|
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs)
|
rs761465345
|
|
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
|
|
|
NM_173477.5(USH1G):c.1004dup (p.Leu336fs)
|
rs1359109336
|
|
NM_173477.5(USH1G):c.1311del (p.Lys438fs)
|
rs886043626
|
|
NM_173477.5(USH1G):c.1382+2_1382+3del
|
|
|
NM_173477.5(USH1G):c.164+5G>A
|
rs1337840598
|
|
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter)
|
rs928656346
|
|
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter)
|
rs1226851798
|
|
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
|
|
|
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)
|
rs544952984
|
|
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val)
|
rs933370216
|
|
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)
|
rs1057517224
|
|
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)
|
rs1553776061
|
|
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter)
|
rs1553776052
|
|
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
|
rs1715589813
|
|
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)
|
rs1553776135
|
|
NM_174878.3(CLRN1):c.301_305del (p.Val101fs)
|
rs397517932
|
|
NM_174878.3(CLRN1):c.372del (p.Phe124fs)
|
rs1553772595
|
|
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile)
|
rs1553776132
|
|
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter)
|
rs1553776112
|
|
NM_174878.3(CLRN1):c.433+2dup
|
rs1057516687
|
|
NM_174878.3(CLRN1):c.434G>T (p.Gly145Val)
|
rs765085056
|
|
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr)
|
rs201625237
|
|
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp)
|
rs775098953
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)
|
rs376155416
|
|
NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg)
|
rs2107927490
|
|
NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)
|
|
|
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
|
|
|
NM_206933.2(USH2A):c.1644+10004_1972-12164del
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
|
|
|
NM_206933.2:c.6326-3582_6658-1028del
|
|
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)
|
|
|
NM_206933.4(USH2A):c.10179del (p.Met3393fs)
|
rs1553262411
|
|
NM_206933.4(USH2A):c.10183-1375_10387+1389del
|
|
|
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
|
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
|
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs)
|
rs1553261387
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs)
|
rs1553261118
|
|
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
|
|
|
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
|
|
|
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs)
|
rs1553259179
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+1G>T
|
rs111033382
|
|
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs)
|
rs1553259060
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)
|
|
|
NM_206933.4(USH2A):c.11694del (p.Asn3899fs)
|
rs1553257502
|
|
NM_206933.4(USH2A):c.11703del (p.Phe3901fs)
|
rs1553257497
|
|
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
|
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.11712-2A>G
|
rs753505333
|
|
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs)
|
rs1553256587
|
|
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs)
|
rs1553256576
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter)
|
rs527236138
|
|
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
|
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.12309del (p.Phe4103fs)
|
rs1553252528
|
|
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
|
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)
|
rs577938494
|
|
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)
|
rs1571949388
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469
|
|
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
|
|
|
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
|
|
|
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)
|
rs1163061829
|
|
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs)
|
rs1553252409
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
|
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs)
|
rs1553252389
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
|
|
|
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
|
|
|
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)
|
rs1553252363
|
|
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
|
rs1657920193
|
|
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)
|
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)
|
rs1571947757
|
|
NM_206933.4(USH2A):c.13811+2T>C
|
rs766515318
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
|
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)
|
rs2102661317
|
|
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)
|
rs1553250416
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
|
|
|
NM_206933.4(USH2A):c.14344-1G>A
|
rs919142559
|
|
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
|
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
|
|
|
NM_206933.4(USH2A):c.14679del (p.Ala4894fs)
|
rs1553250077
|
|
NM_206933.4(USH2A):c.14747del (p.Gly4916fs)
|
rs2102642087
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452
|
|
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)
|
rs781625683
|
|
NM_206933.4(USH2A):c.14969-1G>A
|
rs1553249311
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
|
|
|
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
|
|
|
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294
|
|
NM_206933.4(USH2A):c.15052+1G>A
|
rs1553249290
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)
|
rs1571701072
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1659del (p.Leu553fs)
|
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)
|
rs777701725
|
|
NM_206933.4(USH2A):c.1888del (p.Ala630fs)
|
rs2102606427
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
|
|
|
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly)
|
rs2102788868
|
|
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)
|
rs45555435
|
|
NM_206933.4(USH2A):c.2168-1G>T
|
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
|
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)
|
|
|
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
|
|
|
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
|
|
|
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
|
|
|
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)
|
rs2102545818
|
|
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
|
|
|
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
|
|
|
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
|
|
|
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)
|
rs1553320451
|
|
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
|
|
|
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
|
|
|
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)
|
rs1438734382
|
|
NM_206933.4(USH2A):c.2809+1G>C
|
rs759433119
|
|
NM_206933.4(USH2A):c.2809+2T>A
|
rs1553320397
|
|
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
|
|
|
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
|
|
|
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
|
|
|
NM_206933.4(USH2A):c.2994-2A>G
|
rs1553316430
|
|
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)
|
rs2102496508
|
|
NM_206933.4(USH2A):c.302del (p.Phe101fs)
|
rs1553258076
|
|
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
|
|
|
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3158-1G>T
|
|
|
NM_206933.4(USH2A):c.3158-6A>G
|
rs397518010
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3317-1G>A
|
rs1553313909
|
|
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
|
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
|
|
|
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs)
|
rs1553313844
|
|
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
|
|
|
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
|
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)
|
|
|
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793
|
|
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
|
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del)
|
rs1215540106
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3891del (p.Gln1298fs)
|
rs1553313551
|
|
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
|
|
|
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer)
|
rs527236136
|
|
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
|
|
|
NM_206933.4(USH2A):c.4081+2T>C
|
rs1553313505
|
|
NM_206933.4(USH2A):c.4082-2A>G
|
rs1553313340
|
|
NM_206933.4(USH2A):c.4087del (p.Val1363fs)
|
rs2102460761
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
|
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
|
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
|
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter)
|
rs746900872
|
|
NM_206933.4(USH2A):c.486-2A>C
|
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
|
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
|
|
|
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro)
|
rs2102559645
|
|
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs)
|
rs1553299046
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)
|
rs1553299022
|
|
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
|
rs763831329
|
|
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
|
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)
|
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs)
|
rs1553297684
|
|
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
|
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
|
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6163+1G>A
|
rs2030617696
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6326-10882_6326-10769del
|
rs2102492616
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
NM_206933.4(USH2A):c.6326-3_6332del
|
rs1553287116
|
|
NM_206933.4(USH2A):c.6354del (p.Leu2119fs)
|
rs2102483305
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.647T>G (p.Val216Gly)
|
rs1571801514
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
|
|
|
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs)
|
rs1553285970
|
|
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs)
|
rs1553285944
|
|
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.6805+1G>T
|
rs1553285919
|
|
NM_206933.4(USH2A):c.6810del (p.Ile2271fs)
|
rs1553282707
|
|
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
|
|
|
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs)
|
rs1553282698
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs)
|
rs1553281890
|
|
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)
|
rs1553277866
|
|
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs)
|
rs2102499717
|
|
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
|
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
|
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7531del (p.Val2511fs)
|
rs1553274435
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7595-1G>A
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-2A>G
|
rs1064795047
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)
|
|
|
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
|
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
|
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8266del (p.Ser2756fs)
|
rs1558141330
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
|
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.8391del (p.Gly2799fs)
|
rs1553272176
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.848+2T>C
|
rs2102658759
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_206933.4(USH2A):c.849-2A>G
|
rs2102656326
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
|
|
|
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
|
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)
|
rs1571762632
|
|
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)
|
rs1553270960
|
|
NM_206933.4(USH2A):c.8845+1G>A
|
rs1553270954
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8846-2A>G
|
rs1553268594
|
|
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
|
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
|
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9191del (p.Thr3064fs)
|
rs1553268435
|
|
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs)
|
rs1553268434
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
|
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)
|
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)
|
rs1553265829
|
|
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)
|
rs2102796345
|
|
NM_206933.4(USH2A):c.956del (p.Cys319fs)
|
|
|
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
|
|
|
NM_206933.4(USH2A):c.9739+1G>C
|
rs2102792994
|
|
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
|
rs780036975
|
|
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
|
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)
|
|
|
NP_005700.2(USH1C):p.Arg357Trp
|
|
|
Single allele
|
|
|