NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_153676.4(USH1C):c.2487C>T (p.Gly829=)
|
rs142801489
|
0.00029
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)
|
rs375083165
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn)
|
rs144892841
|
0.00018
|
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)
|
rs201008540
|
0.00016
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)
|
rs200304238
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00010
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
NM_153676.4(USH1C):c.1414-2_1414-1insCTG
|
rs769675063
|
0.00010
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605
|
0.00009
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)
|
rs111033224
|
0.00008
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00008
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331
|
0.00008
|
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer)
|
rs781176348
|
0.00007
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330
|
0.00006
|
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213
|
0.00005
|
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)
|
rs544639673
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_001384140.1(PCDH15):c.4671+1523G>T
|
rs755005336
|
0.00005
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)
|
rs369916141
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met)
|
rs547006116
|
0.00004
|
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)
|
rs201321140
|
0.00004
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654
|
0.00004
|
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu)
|
rs374205826
|
0.00004
|
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln)
|
rs372497947
|
0.00004
|
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)
|
rs397517875
|
0.00004
|
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys)
|
rs876658111
|
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.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys)
|
rs570446209
|
0.00004
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)
|
rs146916397
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)
|
rs372188355
|
0.00003
|
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly)
|
rs111033339
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly)
|
rs781670345
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)
|
rs767975012
|
0.00003
|
NM_000260.4(MYO7A):c.593-4G>A
|
rs876657534
|
0.00003
|
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln)
|
rs762258869
|
0.00003
|
NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs)
|
rs760669176
|
0.00003
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00003
|
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)
|
rs397517878
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)
|
rs370597096
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)
|
rs576236830
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
0.00002
|
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val)
|
rs782465732
|
0.00002
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
|
rs369458838
|
0.00002
|
NM_000260.4(MYO7A):c.5857-3C>A
|
rs727505114
|
0.00002
|
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)
|
rs782361954
|
0.00002
|
NM_001384140.1(PCDH15):c.4671+1559C>T
|
rs368397508
|
0.00002
|
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)
|
rs755487351
|
0.00002
|
NM_033056.4(PCDH15):c.4724_4726dup (p.Ser1575_Gln1576insArg)
|
rs762814533
|
0.00002
|
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)
|
rs750274894
|
0.00002
|
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val)
|
rs751388655
|
0.00002
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539
|
0.00002
|
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)
|
rs768207716
|
0.00002
|
NM_153676.4(USH1C):c.388-8T>A
|
rs777486804
|
0.00002
|
NM_153676.4(USH1C):c.497-4G>A
|
rs397517881
|
0.00002
|
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)
|
rs199537187
|
0.00002
|
NM_174878.3(CLRN1):c.254-2115del
|
rs1032160668
|
0.00002
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
0.00002
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del)
|
rs766970587
|
0.00002
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580
|
0.00002
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)
|
rs876658116
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His)
|
rs397516282
|
0.00001
|
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg)
|
rs878853377
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)
|
rs397516289
|
0.00001
|
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
|
rs782503314
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)
|
rs782174733
|
0.00001
|
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)
|
rs878853237
|
0.00001
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299
|
0.00001
|
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg)
|
rs782313913
|
0.00001
|
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln)
|
rs782140421
|
0.00001
|
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val)
|
rs797044517
|
0.00001
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886
|
0.00001
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
NM_000260.4(MYO7A):c.4153-10C>G
|
rs397516306
|
0.00001
|
NM_000260.4(MYO7A):c.4153-11C>T
|
rs727503330
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485
|
0.00001
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
0.00001
|
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)
|
rs1164918878
|
0.00001
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
0.00001
|
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met)
|
rs754761542
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser)
|
rs747131589
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)
|
rs756490783
|
0.00001
|
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter)
|
rs770416107
|
0.00001
|
NM_001384140.1(PCDH15):c.5106_5109dup (p.Ser1704Ter)
|
rs1198732380
|
0.00001
|
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter)
|
rs1554814611
|
0.00001
|
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln)
|
rs765571023
|
0.00001
|
NM_153676.4(USH1C):c.1210+5G>A
|
rs372285784
|
0.00001
|
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)
|
rs1406224812
|
0.00001
|
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)
|
rs778703128
|
0.00001
|
NM_153676.4(USH1C):c.1824del (p.Pro609fs)
|
rs1389725640
|
0.00001
|
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val)
|
rs727505187
|
0.00001
|
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp)
|
rs375741564
|
0.00001
|
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)
|
rs369369849
|
0.00001
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
NM_153676.4(USH1C):c.2656-1G>A
|
rs747133793
|
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.629A>C (p.Lys210Thr)
|
rs372789934
|
0.00001
|
NM_174878.3(CLRN1):c.291C>T (p.Ile97=)
|
rs1231233910
|
0.00001
|
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr)
|
rs553202000
|
0.00001
|
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)
|
rs762384558
|
0.00001
|
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)
|
rs749121941
|
0.00001
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)
|
rs727504582
|
0.00001
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)
|
rs769001387
|
0.00001
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)
|
rs369513607
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
0.00001
|
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter)
|
rs1365989569
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)
|
rs1037325220
|
0.00001
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.419C>A (p.Pro140His)
|
rs759474177
|
0.00001
|
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu)
|
rs1388648004
|
0.00001
|
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
NM_206933.4(USH2A):c.5858-12A>G
|
rs727503727
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
NM_206933.4(USH2A):c.6709G>T (p.Asp2237Tyr)
|
rs1177455978
|
0.00001
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
0.00001
|
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met)
|
rs727503721
|
0.00001
|
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe)
|
rs199825458
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile)
|
rs876658115
|
0.00001
|
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)
|
rs397518032
|
0.00001
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln)
|
rs267598376
|
0.00001
|
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)
|
rs549796389
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn)
|
rs750687826
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser)
|
rs752996514
|
0.00001
|
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His)
|
rs1334903455
|
0.00001
|
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.1172C>T (p.Ala391Val)
|
rs1555067608
|
|
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.133-7_146dup
|
rs1555054558
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)
|
rs397516286
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
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.1721A>C (p.His574Pro)
|
rs397516287
|
|
NM_000260.4(MYO7A):c.1798-3C>G
|
rs1555076939
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del)
|
rs1555054736
|
|
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys)
|
rs797044493
|
|
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)
|
rs397516296
|
|
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu)
|
rs199979876
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu)
|
rs397516298
|
|
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal)
|
rs782367511
|
|
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del)
|
rs1180304045
|
|
NM_000260.4(MYO7A):c.3109-27_3109-7dup
|
rs1555085333
|
|
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys)
|
rs1555061483
|
|
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.3701C>G (p.Thr1234Ser)
|
rs775908821
|
|
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=)
|
rs1349274983
|
|
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu)
|
rs1555061692
|
|
NM_000260.4(MYO7A):c.397C>G (p.His133Asp)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del)
|
rs1555092931
|
|
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser)
|
rs763469001
|
|
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del)
|
rs1437625274
|
|
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser)
|
rs111534474
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del)
|
rs1432069074
|
|
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup)
|
rs1555100610
|
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151
|
|
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu)
|
rs1555106562
|
|
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)
|
rs1188616455
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu)
|
rs1555109788
|
|
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala)
|
rs1555109806
|
|
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs)
|
rs1555110680
|
|
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs)
|
rs1555111077
|
|
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly)
|
rs1003695470
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)
|
rs1555111501
|
|
NM_000260.4(MYO7A):c.736-3C>T
|
rs1555063792
|
|
NM_001384140.1(PCDH15):c.-5AGA[1] (p.Met1del)
|
rs1555135527
|
|
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser)
|
rs1196401374
|
|
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn)
|
rs1455035148
|
|
NM_001384140.1(PCDH15):c.2047C>T (p.Arg683Cys)
|
rs573043647
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.3416ATC[1] (p.His1140del)
|
rs1554852410
|
|
NM_001384140.1(PCDH15):c.3862T>C (p.Ser1288Pro)
|
rs1554827269
|
|
NM_001384140.1(PCDH15):c.3983+2dup
|
rs1554827124
|
|
NM_001384140.1(PCDH15):c.4006_4008dup (p.Asp1336dup)
|
rs1554824158
|
|
NM_001384140.1(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del)
|
rs1394411772
|
|
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.4147del (p.Ile1383fs)
|
rs1554824058
|
|
NM_001384140.1(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del)
|
rs1296979751
|
|
NM_001384140.1(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup)
|
rs1327987212
|
|
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup)
|
rs1554822754
|
|
NM_001384140.1(PCDH15):c.4368-1896_4368-1893delinsT
|
rs1554819686
|
|
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3]
|
rs1452730552
|
|
NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys)
|
rs1554816509
|
|
NM_001384140.1(PCDH15):c.4603C>A (p.Pro1535Thr)
|
rs1554816211
|
|
NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu)
|
rs1554816210
|
|
NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter)
|
rs1554816196
|
|
NM_001384140.1(PCDH15):c.4645_4656del (p.Ala1549_Glu1552del)
|
rs1554816165
|
|
NM_001384140.1(PCDH15):c.4671+1009G>A
|
rs1554815909
|
|
NM_001384140.1(PCDH15):c.4671+1077_4671+1082del
|
rs1588876049
|
|
NM_001384140.1(PCDH15):c.4671+1257_4671+1258del
|
rs1554815781
|
|
NM_001384140.1(PCDH15):c.4671+1297_4671+1300dup
|
rs1343032451
|
|
NM_001384140.1(PCDH15):c.4671+1355_4671+1359dup
|
rs1588874677
|
|
NM_001384140.1(PCDH15):c.4671+1403GAG[5]
|
rs1272584101
|
|
NM_001384140.1(PCDH15):c.4671+1412G>T
|
rs1467453189
|
|
NM_001384140.1(PCDH15):c.4671+1420del
|
rs778088114
|
|
NM_001384140.1(PCDH15):c.4671+1511_4671+1519del
|
rs1554815654
|
|
NM_001384140.1(PCDH15):c.4671+1550C>T
|
rs765589050
|
|
NM_001384140.1(PCDH15):c.4671+1577GAA[3]
|
rs774006219
|
|
NM_001384140.1(PCDH15):c.4671+1617_4671+1637del
|
rs769671738
|
|
NM_001384140.1(PCDH15):c.4671+1708_4671+1711dup
|
rs1554815534
|
|
NM_001384140.1(PCDH15):c.4672-1648_4672-1644dup
|
rs1554815468
|
|
NM_001384140.1(PCDH15):c.4672-1662del
|
rs1554815484
|
|
NM_001384140.1(PCDH15):c.4672-1666G>T
|
rs1297423576
|
|
NM_001384140.1(PCDH15):c.4672-1709_4672-1706dup
|
rs1554815527
|
|
NM_001384140.1(PCDH15):c.4672-2A>G
|
rs1554814991
|
|
NM_001384140.1(PCDH15):c.4688_4691dup (p.Lys1565fs)
|
rs1589057333
|
|
NM_001384140.1(PCDH15):c.4722del (p.Ser1575fs)
|
rs778963761
|
|
NM_001384140.1(PCDH15):c.4729_4734dup (p.Thr1577_Gly1578dup)
|
rs1554814938
|
|
NM_001384140.1(PCDH15):c.4739_4742dup (p.Ser1581fs)
|
rs1554814927
|
|
NM_001384140.1(PCDH15):c.4828_4835del (p.Ser1610fs)
|
rs750833316
|
|
NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs)
|
rs757520086
|
|
NM_001384140.1(PCDH15):c.4914del (p.Asp1639fs)
|
rs1554814800
|
|
NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)
|
rs1554814729
|
|
NM_001384140.1(PCDH15):c.5082_5089del (p.Ser1694fs)
|
rs1554814684
|
|
NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs)
|
rs1320916581
|
|
NM_001384140.1(PCDH15):c.5092C>T (p.Gln1698Ter)
|
rs1554814683
|
|
NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs)
|
rs1554814669
|
|
NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del)
|
rs1554814635
|
|
NM_001384140.1(PCDH15):c.705+2_705+3insTT
|
rs1554903836
|
|
NM_001384140.1(PCDH15):c.803G>A (p.Cys268Tyr)
|
rs1283739647
|
|
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)
|
rs138744579
|
|
NM_001384140.1(PCDH15):c.92-515T>G
|
rs1283842168
|
|
NM_005709.4(USH1C):c.1284+6880del
|
rs745622612
|
|
NM_033056.4(PCDH15):c.4368-1_4369dup
|
rs1554821139
|
|
NM_033056.4(PCDH15):c.4368-3_4379dup
|
rs1554821131
|
|
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter)
|
rs1033803342
|
|
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.4435CAA[1] (p.Gln1480del)
|
rs1358121247
|
|
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.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.4705_4708dup (p.Ile1570fs)
|
rs1554820749
|
|
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter)
|
rs758204385
|
|
NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs)
|
rs770063261
|
|
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.4792C>T (p.Gln1598Ter)
|
rs1554820663
|
|
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.4853_4864dup (p.Lys1618_Ser1621dup)
|
rs1554820580
|
|
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs)
|
rs1240582095
|
|
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr)
|
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.4968_4970dup (p.Ser1658dup)
|
rs1554820428
|
|
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs)
|
rs1491078644
|
|
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter)
|
rs902963615
|
|
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs)
|
rs1554820394
|
|
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs)
|
rs775238614
|
|
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.5136_5139dup (p.Arg1714delinsLeuTer)
|
rs1554820255
|
|
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs)
|
rs1554820230
|
|
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter)
|
rs1554820212
|
|
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs)
|
rs1554820145
|
|
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.5272CCT[1] (p.Pro1759_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272CCT[4] (p.Pro1760dup)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs)
|
rs1554820127
|
|
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.5317_5319del (p.Pro1773del)
|
rs1415161284
|
|
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.5355_5365del (p.Ile1786fs)
|
rs1554819970
|
|
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs)
|
rs1376879405
|
|
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs)
|
rs1554819957
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[3] (p.1788LP[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.5430_5438del (p.Leu1811_Pro1813del)
|
rs1554819833
|
|
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del)
|
rs764759018
|
|
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del)
|
rs1554819787
|
|
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del)
|
rs763534924
|
|
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs)
|
rs1554819767
|
|
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)
|
rs1554819761
|
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445
|
|
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter)
|
rs371269732
|
|
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs)
|
rs1554819653
|
|
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs)
|
rs1418472770
|
|
NM_033056.4(PCDH15):c.5632_5633del (p.Glu1878fs)
|
rs794727570
|
|
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.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.5743_5766del (p.Leu1915_Glu1922del)
|
rs1554819513
|
|
NM_033056.4(PCDH15):c.5753del (p.Met1918fs)
|
rs1554819525
|
|
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.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_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960
|
|
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter)
|
rs1554959148
|
|
NM_153676.4(USH1C):c.1265del (p.Gly422fs)
|
rs1554957912
|
|
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[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.1543CCCCCGCCT[3] (p.Pro518_Pro520dup)
|
rs777764626
|
|
NM_153676.4(USH1C):c.1559dup (p.Ser521fs)
|
rs1554957167
|
|
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.1871C>A (p.Ser624Ter)
|
rs778700091
|
|
NM_153676.4(USH1C):c.1956_1957del (p.His652fs)
|
rs766725582
|
|
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs)
|
rs1554956821
|
|
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter)
|
rs139116036
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)
|
rs779253356
|
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2528dup (p.Glu844fs)
|
rs1554953360
|
|
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)
|
rs1474458620
|
|
NM_153676.4(USH1C):c.2681del (p.Gly894fs)
|
rs1554952757
|
|
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs)
|
rs1554952752
|
|
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)
|
rs200319849
|
|
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)
|
rs770543827
|
|
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
|
rs267602805
|
|
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
|
rs1554960929
|
|
NM_174878.3(CLRN1):c.254-2081G>A
|
rs780023517
|
|
NM_174878.3(CLRN1):c.254-2099_254-2086del
|
rs1553772861
|
|
NM_174878.3(CLRN1):c.254-2189dup
|
rs1553772899
|
|
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3]
|
rs768093614
|
|
NM_174878.3(CLRN1):c.433+1102G>T
|
rs1553772414
|
|
NM_174878.3(CLRN1):c.456_458del (p.Met152del)
|
rs1553770929
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del)
|
rs1553250786
|
|
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)
|
rs1553261464
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal)
|
rs1553259182
|
|
NM_206933.4(USH2A):c.11390-2del
|
rs760100733
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del)
|
rs1553257704
|
|
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro)
|
rs1553257674
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del)
|
rs1553252937
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NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del)
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rs1553252931
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NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser)
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rs187897763
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NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)
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rs1553252489
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NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg)
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rs1553252475
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NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
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rs727505117
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NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
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rs775490668
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NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe)
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rs146240320
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NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
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rs139474806
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NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys)
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rs1553250638
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NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup)
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rs1553252347
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NM_206933.4(USH2A):c.13776G>C (p.Gln4592His)
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rs1350039852
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NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
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rs727504551
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NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
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rs1423536179
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NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg)
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rs1333608275
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NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
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rs527236126
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NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del)
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rs1553249310
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NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala)
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rs1553249303
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NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del)
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rs1553248836
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NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs)
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rs1553248832
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NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
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rs1553250595
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NM_206933.4(USH2A):c.15298-18_15301dup
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rs1553248238
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NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
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rs746098518
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NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
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rs1553313073
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NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
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rs727505155
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NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del)
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rs1553250409
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NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
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rs727504805
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NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
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rs1553327470
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NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
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rs1553320519
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NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)
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rs1553320498
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NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del)
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rs757082108
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NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
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rs368798834
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NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)
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rs1553316429
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NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
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rs1396847135
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NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del)
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rs1461275915
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NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr)
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rs1553314999
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NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
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rs1294733964
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NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
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rs755849364
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NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
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rs754634823
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NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del)
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rs773595155
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NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
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rs1230923403
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NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
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|
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NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer)
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rs1553310736
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NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly)
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rs1553299065
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NM_206933.4(USH2A):c.5561_5572+7dup
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rs1553299014
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NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
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rs1553298240
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NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
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rs775803174
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NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
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rs878853412
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NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del)
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rs776262139
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NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
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rs542406401
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NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
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rs550772689
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NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
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rs727503722
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NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
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rs759494205
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NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala)
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rs1553274535
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NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
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rs397518031
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NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys)
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rs754310768
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NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe)
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rs397518033
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NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)
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rs747492773
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NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe)
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rs1205473124
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NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser)
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rs768532694
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NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del)
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rs1553272199
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NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
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rs397518038
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NM_206933.4(USH2A):c.8682-17A>G
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rs1553271011
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NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)
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rs1553270997
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NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
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rs1553268568
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NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del)
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rs764038940
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NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
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rs760448755
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NM_206933.4(USH2A):c.920G>T (p.Ser307Ile)
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rs1553250805
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NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
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rs773379163
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NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp)
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rs756163056
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NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
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rs1553265812
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NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del)
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rs773436260
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