NM_000260.4(MYO7A):c.6558+51G>T
|
rs948959
|
0.92365
|
NM_000260.4(MYO7A):c.6438+50A>T
|
rs2276289
|
0.86951
|
NM_000260.4(MYO7A):c.5743-12T>C
|
rs2276291
|
0.63742
|
NM_000260.4(MYO7A):c.5944+57G>A
|
rs948961
|
0.63248
|
NM_000260.4(MYO7A):c.3750+89C>T
|
rs2276286
|
0.63230
|
NM_000260.4(MYO7A):c.2905-54A>G
|
rs7117606
|
0.62793
|
NM_000260.4(MYO7A):c.3751-94C>G
|
rs7947922
|
0.62425
|
NM_000260.4(MYO7A):c.2367+67T>C
|
rs10793239
|
0.60184
|
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys)
|
rs2276288
|
0.59864
|
NM_000260.4(MYO7A):c.4324-207C>G
|
rs12802853
|
0.59234
|
NM_000260.4(MYO7A):c.4324-202A>G
|
rs12421897
|
0.59230
|
NM_000260.4(MYO7A):c.4323+35G>T
|
rs1109977
|
0.59156
|
NM_000260.4(MYO7A):c.5637-175A>G
|
rs4945160
|
0.59068
|
NM_000260.4(MYO7A):c.5480+162C>G
|
rs11237120
|
0.59043
|
NM_000260.4(MYO7A):c.5481-83A>G
|
rs11237121
|
0.58275
|
NM_000260.4(MYO7A):c.5856+50G>A
|
rs2276290
|
0.56770
|
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=)
|
rs2276293
|
0.56709
|
NM_000260.4(MYO7A):c.6051+17T>A
|
rs1320702
|
0.56699
|
NM_000260.4(MYO7A):c.5857-7A>T
|
rs1320703
|
0.56654
|
NM_000260.4(MYO7A):c.5944+67C>T
|
rs948960
|
0.56521
|
NM_000260.4(MYO7A):c.1936-23G>A
|
rs2276283
|
0.52888
|
NM_000260.4(MYO7A):c.3924+12C>T
|
rs2276285
|
0.51057
|
NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667
|
0.50077
|
NM_000260.4(MYO7A):c.2905-162T>G
|
rs59698916
|
0.48946
|
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=)
|
rs7927472
|
0.47702
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_000260.4(MYO7A):c.1080+65T>C
|
rs4944145
|
0.46104
|
NM_000260.4(MYO7A):c.6439-31G>A
|
rs883223
|
0.34445
|
NM_000260.4(MYO7A):c.6354+35G>A
|
rs3819170
|
0.25401
|
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=)
|
rs11237123
|
0.24897
|
NM_000260.4(MYO7A):c.4442-113A>G
|
rs3781692
|
0.24810
|
NM_000260.4(MYO7A):c.133-88C>T
|
rs12279716
|
0.19502
|
NM_000260.4(MYO7A):c.6558+16G>A
|
rs883224
|
0.19125
|
NM_000260.4(MYO7A):c.736-47C>A
|
rs3737454
|
0.11805
|
NM_000260.4(MYO7A):c.1004-35C>G
|
rs2071151
|
0.09483
|
NM_000260.4(MYO7A):c.*504C>T
|
rs34765389
|
0.07374
|
NM_000260.4(MYO7A):c.593-5C>T
|
rs762666
|
0.06264
|
NM_000260.4(MYO7A):c.4441+148A>G
|
rs4944149
|
0.05652
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_000260.4(MYO7A):c.4441+89T>C
|
rs11237115
|
0.04804
|
NM_000260.4(MYO7A):c.4441+195G>A
|
rs4945157
|
0.03958
|
NM_000260.4(MYO7A):c.*230A>G
|
rs112830819
|
0.03507
|
NM_000260.4(MYO7A):c.468C>T (p.Ile156=)
|
rs12420129
|
0.03116
|
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)
|
rs1132036
|
0.03072
|
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=)
|
rs111033209
|
0.03064
|
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=)
|
rs41298757
|
0.02519
|
NM_000260.4(MYO7A):c.5326+13C>T
|
rs114157944
|
0.02453
|
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu)
|
rs111033183
|
0.02384
|
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=)
|
rs78871677
|
0.02377
|
NM_000260.4(MYO7A):c.288G>A (p.Thr96=)
|
rs56023295
|
0.02179
|
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)
|
rs73495790
|
0.02130
|
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)
|
rs111033231
|
0.01911
|
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=)
|
rs80033599
|
0.01906
|
NM_000260.4(MYO7A):c.*363A>C
|
rs115872143
|
0.01894
|
NM_000260.4(MYO7A):c.6052-11G>C
|
rs112564978
|
0.01883
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)
|
rs45450893
|
0.01749
|
NM_000260.4(MYO7A):c.286-5C>T
|
rs111033471
|
0.01415
|
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)
|
rs111033230
|
0.01207
|
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=)
|
rs78072361
|
0.01074
|
NM_000260.4(MYO7A):c.*442T>C
|
rs115238711
|
0.00963
|
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)
|
rs35963362
|
0.00745
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
NM_000260.4(MYO7A):c.133-14C>T
|
rs116228809
|
0.00719
|
NM_000260.4(MYO7A):c.*392A>G
|
rs144527614
|
0.00712
|
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)
|
rs36090425
|
0.00646
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)
|
rs111033507
|
0.00617
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00512
|
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)
|
rs111033476
|
0.00408
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_000260.4(MYO7A):c.5481-14G>A
|
rs113075052
|
0.00372
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=)
|
rs200207753
|
0.00295
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)
|
rs35429535
|
0.00276
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)
|
rs200313391
|
0.00181
|
NM_000260.4(MYO7A):c.*38G>A
|
rs149296177
|
0.00172
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_000260.4(MYO7A):c.-211A>G
|
rs41298129
|
0.00133
|
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)
|
rs61900036
|
0.00122
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=)
|
rs41298745
|
0.00087
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743
|
0.00069
|
NM_000260.4(MYO7A):c.2283-20C>T
|
rs371838579
|
0.00068
|
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229
|
0.00064
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00063
|
NM_000260.4(MYO7A):c.-154G>A
|
rs545774605
|
0.00054
|
NM_000260.4(MYO7A):c.486C>T (p.Ala162=)
|
rs367687624
|
0.00051
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656
|
0.00049
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022
|
0.00048
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)
|
rs372509310
|
0.00043
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301
|
0.00042
|
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=)
|
rs140664109
|
0.00041
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)
|
rs781991817
|
0.00036
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_000260.4(MYO7A):c.2282+5G>A
|
rs540145750
|
0.00033
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)
|
rs116892396
|
0.00030
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000260.4(MYO7A):c.3925-8G>A
|
rs367645097
|
0.00029
|
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=)
|
rs373656667
|
0.00028
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
NM_000260.4(MYO7A):c.514C>T (p.Leu172=)
|
rs368246776
|
0.00023
|
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_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=)
|
rs367738288
|
0.00021
|
NM_000260.4(MYO7A):c.19-9C>T
|
rs368452072
|
0.00020
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00019
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=)
|
rs372623270
|
0.00019
|
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)
|
rs727505004
|
0.00019
|
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys)
|
rs370232066
|
0.00018
|
NM_000260.4(MYO7A):c.813C>T (p.Gly271=)
|
rs781810349
|
0.00018
|
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=)
|
rs369787754
|
0.00017
|
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
|
rs375968860
|
0.00017
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln)
|
rs199918940
|
0.00014
|
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)
|
rs200304238
|
0.00013
|
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=)
|
rs181126043
|
0.00013
|
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=)
|
rs754599732
|
0.00012
|
NM_000260.4(MYO7A):c.*100C>T
|
rs758099500
|
0.00011
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=)
|
rs782711428
|
0.00011
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
NM_000260.4(MYO7A):c.3375+14C>A
|
rs782500012
|
0.00011
|
NM_000260.4(MYO7A):c.4568+13G>A
|
rs532356676
|
0.00011
|
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=)
|
rs370866578
|
0.00011
|
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)
|
rs372344870
|
0.00011
|
NM_000260.4(MYO7A):c.1201-12A>G
|
rs542772429
|
0.00010
|
NM_000260.4(MYO7A):c.1343+6G>A
|
rs201886336
|
0.00010
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00010
|
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=)
|
rs372336857
|
0.00010
|
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=)
|
rs376301325
|
0.00010
|
NM_000260.4(MYO7A):c.617G>A (p.Arg206His)
|
rs781998354
|
0.00010
|
NM_000260.4(MYO7A):c.*142A>G
|
rs369873505
|
0.00009
|
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)
|
rs375457812
|
0.00009
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605
|
0.00009
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00009
|
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)
|
rs373080197
|
0.00009
|
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=)
|
rs758921557
|
0.00009
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)
|
rs111033224
|
0.00008
|
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys)
|
rs376169396
|
0.00008
|
NM_000260.4(MYO7A):c.2421C>T (p.His807=)
|
rs782218928
|
0.00008
|
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys)
|
rs782276809
|
0.00008
|
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)
|
rs758332732
|
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_000260.4(MYO7A):c.5355G>A (p.Pro1785=)
|
rs372311564
|
0.00008
|
NM_000260.4(MYO7A):c.*101G>A
|
rs886048683
|
0.00007
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
|
rs782787324
|
0.00007
|
NM_000260.4(MYO7A):c.5480+10G>A
|
rs768513428
|
0.00007
|
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=)
|
rs778051833
|
0.00007
|
NM_000260.4(MYO7A):c.*208C>G
|
rs886048684
|
0.00006
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met)
|
rs1367144630
|
0.00006
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys)
|
rs780609120
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His)
|
rs761867896
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_000260.4(MYO7A):c.1690+4C>T
|
rs377741637
|
0.00005
|
NM_000260.4(MYO7A):c.1690+9G>T
|
rs371146074
|
0.00005
|
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
|
rs953533173
|
0.00005
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His)
|
rs782693893
|
0.00005
|
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp)
|
rs781834630
|
0.00005
|
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=)
|
rs199979876
|
0.00005
|
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val)
|
rs113326082
|
0.00005
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)
|
rs544639673
|
0.00005
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys)
|
rs762836180
|
0.00005
|
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=)
|
rs368749248
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)
|
rs373957005
|
0.00005
|
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp)
|
rs782505601
|
0.00005
|
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)
|
rs369916141
|
0.00004
|
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)
|
rs369142107
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000260.4(MYO7A):c.1797+13C>T
|
rs782461418
|
0.00004
|
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln)
|
rs781812509
|
0.00004
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu)
|
rs782757893
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)
|
rs782179888
|
0.00004
|
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His)
|
rs199607235
|
0.00004
|
NM_000260.4(MYO7A):c.3375+12C>T
|
rs781935881
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp)
|
rs886048671
|
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.495G>A (p.Thr165=)
|
rs532833627
|
0.00004
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654
|
0.00004
|
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu)
|
rs757896867
|
0.00004
|
NM_000260.4(MYO7A):c.5374G>A (p.Val1792Ile)
|
rs369424114
|
0.00004
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=)
|
rs375627342
|
0.00004
|
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=)
|
rs773907543
|
0.00004
|
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)
|
rs765083332
|
0.00004
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_000260.4(MYO7A):c.-170C>T
|
rs886048667
|
0.00003
|
NM_000260.4(MYO7A):c.-20G>A
|
rs886048668
|
0.00003
|
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)
|
rs559209306
|
0.00003
|
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp)
|
rs886048676
|
0.00003
|
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.2683C>T (p.Arg895Cys)
|
rs781916427
|
0.00003
|
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His)
|
rs868977760
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg)
|
rs780594308
|
0.00003
|
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=)
|
rs727504631
|
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.4006C>T (p.Gln1336Ter)
|
rs750647872
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn)
|
rs370601111
|
0.00003
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=)
|
rs757971917
|
0.00003
|
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys)
|
rs749146420
|
0.00003
|
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)
|
rs767975012
|
0.00003
|
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)
|
rs777954362
|
0.00003
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
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_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)
|
rs369997614
|
0.00002
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln)
|
rs782410686
|
0.00002
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
0.00002
|
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)
|
rs781989117
|
0.00002
|
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)
|
rs751034678
|
0.00002
|
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln)
|
rs1052032
|
0.00002
|
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=)
|
rs782279442
|
0.00002
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
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.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)
|
rs111534474
|
0.00002
|
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=)
|
rs777008254
|
0.00002
|
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His)
|
rs397516311
|
0.00002
|
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)
|
rs397516317
|
0.00002
|
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met)
|
rs746667217
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000260.4(MYO7A):c.5857-3C>A
|
rs727505114
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)
|
rs185061452
|
0.00002
|
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)
|
rs782361954
|
0.00002
|
NM_000260.4(MYO7A):c.618C>T (p.Arg206=)
|
rs375851346
|
0.00002
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
NM_000260.4(MYO7A):c.*201T>C
|
rs942399987
|
0.00001
|
NM_000260.4(MYO7A):c.*315C>G
|
rs924986929
|
0.00001
|
NM_000260.4(MYO7A):c.*440G>A
|
rs779826272
|
0.00001
|
NM_000260.4(MYO7A):c.*75C>T
|
rs1958052155
|
0.00001
|
NM_000260.4(MYO7A):c.-196C>T
|
rs886048666
|
0.00001
|
NM_000260.4(MYO7A):c.-52C>G
|
rs1950674289
|
0.00001
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
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.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn)
|
rs782313585
|
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.1563del (p.Asp521fs)
|
rs1064794012
|
0.00001
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909
|
0.00001
|
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val)
|
rs1282033456
|
0.00001
|
NM_000260.4(MYO7A):c.1690+3A>G
|
rs1555070313
|
0.00001
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)
|
rs968552859
|
0.00001
|
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)
|
rs397516289
|
0.00001
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
NM_000260.4(MYO7A):c.1935+1G>C
|
rs1343207038
|
0.00001
|
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
|
rs782503314
|
0.00001
|
NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln)
|
rs1308203959
|
0.00001
|
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=)
|
rs367693437
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg)
|
rs572300575
|
0.00001
|
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter)
|
rs782255281
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu)
|
rs886048670
|
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.2266C>T (p.Arg756Trp)
|
rs782174733
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp)
|
rs376796087
|
0.00001
|
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)
|
rs1241891051
|
0.00001
|
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln)
|
rs561347333
|
0.00001
|
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)
|
rs781926175
|
0.00001
|
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)
|
rs1279918132
|
0.00001
|
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00001
|
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter)
|
rs1334199217
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164
|
0.00001
|
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys)
|
rs782189807
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=)
|
rs397516297
|
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.29T>C (p.Val10Ala)
|
rs878853237
|
0.00001
|
NM_000260.4(MYO7A):c.310G>A (p.Ala104Thr)
|
rs374967010
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter)
|
rs548381313
|
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.3475G>A (p.Gly1159Ser)
|
rs568495838
|
0.00001
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886
|
0.00001
|
NM_000260.4(MYO7A):c.3504-1G>C
|
rs1555090171
|
0.00001
|
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)
|
rs782694195
|
0.00001
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=)
|
rs762101560
|
0.00001
|
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln)
|
rs372642675
|
0.00001
|
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser)
|
rs755771068
|
0.00001
|
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=)
|
rs77299211
|
0.00001
|
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)
|
rs371374104
|
0.00001
|
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)
|
rs767426033
|
0.00001
|
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=)
|
rs771896529
|
0.00001
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
0.00001
|
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser)
|
rs769771981
|
0.00001
|
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr)
|
rs375066152
|
0.00001
|
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu)
|
rs753630781
|
0.00001
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
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.4569-1G>A
|
rs775792432
|
0.00001
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
0.00001
|
NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser)
|
rs746774239
|
0.00001
|
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)
|
rs747155741
|
0.00001
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623
|
0.00001
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485
|
0.00001
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)
|
rs111033174
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His)
|
rs1241956038
|
0.00001
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
0.00001
|
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp)
|
rs757984734
|
0.00001
|
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu)
|
rs746296177
|
0.00001
|
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=)
|
rs773557376
|
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.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5637-173C>T
|
rs207472020
|
0.00001
|
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg)
|
rs373886432
|
0.00001
|
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp)
|
rs1010166278
|
0.00001
|
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=)
|
rs749438001
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=)
|
rs886048682
|
0.00001
|
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His)
|
rs767931313
|
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.5896G>A (p.Val1966Ile)
|
rs371313080
|
0.00001
|
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln)
|
rs762420918
|
0.00001
|
NM_000260.4(MYO7A):c.5945-1G>A
|
rs1268984037
|
0.00001
|
NM_000260.4(MYO7A):c.5945-9G>A
|
rs1233077552
|
0.00001
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428
|
0.00001
|
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)
|
rs1173853484
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=)
|
rs1381141633
|
0.00001
|
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg)
|
rs779090765
|
0.00001
|
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter)
|
rs1060499802
|
0.00001
|
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser)
|
rs747131589
|
0.00001
|
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter)
|
rs776930594
|
0.00001
|
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=)
|
rs397516329
|
0.00001
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr)
|
rs1555062954
|
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.6600G>C (p.Gln2200His)
|
rs779431269
|
0.00001
|
NM_000260.4(MYO7A):c.741G>A (p.Leu247=)
|
rs1555063817
|
0.00001
|
NM_000260.4(MYO7A):c.759C>T (p.His253=)
|
rs182220009
|
0.00001
|
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)
|
rs111033285
|
0.00001
|
NC_000011.10:g.77190085_77190095del
|
rs397516303
|
|
NC_000011.10:g.77198597_77198604delinsCA
|
rs111033259
|
|
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
|
|
|
NM_000260.4(MYO7A):c.*416C>T
|
rs549702559
|
|
NM_000260.4(MYO7A):c.1005_1012delinsTGCCAACAGCCCCTTGCTGCCTCCCCTGATGCTGTGCCCC (p.Arg336fs)
|
|
|
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr)
|
rs782432573
|
|
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter)
|
rs782639389
|
|
NM_000260.4(MYO7A):c.1080+1G>C
|
|
|
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs)
|
rs1952854443
|
|
NM_000260.4(MYO7A):c.1107C>A (p.Cys369Ter)
|
|
|
NM_000260.4(MYO7A):c.1117C>G (p.Arg373Gly)
|
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu)
|
rs201491278
|
|
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val)
|
rs782728522
|
|
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys)
|
rs782227657
|
|
NM_000260.4(MYO7A):c.1165G>T (p.Glu389Ter)
|
|
|
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val)
|
rs1555067608
|
|
NM_000260.4(MYO7A):c.117_132+6del
|
rs1555051567
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
|
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs)
|
rs1591287317
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.1201-2A>C
|
|
|
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=)
|
rs886048673
|
|
NM_000260.4(MYO7A):c.1267_1270del (p.Ser423fs)
|
|
|
NM_000260.4(MYO7A):c.132+6T>C
|
rs781852295
|
|
NM_000260.4(MYO7A):c.1324G>A (p.Glu442Lys)
|
rs267603200
|
|
NM_000260.4(MYO7A):c.133-2A>C
|
rs782064437
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.133-7_146dup
|
rs1555054558
|
|
NM_000260.4(MYO7A):c.1343+1G>A
|
rs914189193
|
|
NM_000260.4(MYO7A):c.1343+8G>A
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1344-1G>C
|
|
|
NM_000260.4(MYO7A):c.1344-2A>G
|
rs111033415
|
|
NM_000260.4(MYO7A):c.1344-7C>G
|
rs886048674
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
NM_000260.4(MYO7A):c.1372A>G (p.Asn458Asp)
|
|
|
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)
|
rs397516286
|
|
NM_000260.4(MYO7A):c.1534dup (p.Glu512fs)
|
|
|
NM_000260.4(MYO7A):c.1538A>T (p.Glu513Val)
|
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
NM_000260.4(MYO7A):c.1554+1G>A
|
|
|
NM_000260.4(MYO7A):c.1554+244T>C
|
rs3740763
|
|
NM_000260.4(MYO7A):c.1554+2T>G
|
|
|
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=)
|
rs886048675
|
|
NM_000260.4(MYO7A):c.1555G>C (p.Gly519Arg)
|
|
|
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys)
|
rs886048669
|
|
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del)
|
rs1555070062
|
|
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup)
|
rs1555070084
|
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721
|
|
NM_000260.4(MYO7A):c.1649del (p.Gly550fs)
|
|
|
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)
|
rs2135312491
|
|
NM_000260.4(MYO7A):c.1691-2A>G
|
rs1555072299
|
|
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=)
|
rs781881163
|
|
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro)
|
rs397516287
|
|
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs)
|
rs2135345560
|
|
NM_000260.4(MYO7A):c.178dup (p.His60fs)
|
|
|
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)
|
rs121965082
|
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-1G>C
|
|
|
NM_000260.4(MYO7A):c.1798-1G>T
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-3C>G
|
rs1555076939
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
NM_000260.4(MYO7A):c.18+2T>A
|
rs564622720
|
|
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)
|
rs782311929
|
|
NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer)
|
rs2135406725
|
|
NM_000260.4(MYO7A):c.183del (p.Thr62fs)
|
rs1446588093
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met)
|
rs782412089
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.19-1G>A
|
rs111033426
|
|
NM_000260.4(MYO7A):c.19-2A>G
|
rs1555051384
|
|
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)
|
rs1555078826
|
|
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)
|
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del)
|
rs1555054736
|
|
NM_000260.4(MYO7A):c.1981ATG[1] (p.Met662del)
|
|
|
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr)
|
rs1954489249
|
|
NM_000260.4(MYO7A):c.2094+2T>C
|
|
|
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
|
rs782176754
|
|
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro)
|
rs782176754
|
|
NM_000260.4(MYO7A):c.2187+1G>T
|
rs111033290
|
|
NM_000260.4(MYO7A):c.2187+2_2187+8del
|
|
|
NM_000260.4(MYO7A):c.2188-2_2196del
|
|
|
NM_000260.4(MYO7A):c.2209G>T (p.Glu737Ter)
|
|
|
NM_000260.4(MYO7A):c.2219_2228del (p.Arg740fs)
|
|
|
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs)
|
rs1555080760
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2283-2A>T
|
|
|
NM_000260.4(MYO7A):c.2283-2_2293del
|
rs1555082041
|
|
NM_000260.4(MYO7A):c.2287_2290del (p.Asn763fs)
|
|
|
NM_000260.4(MYO7A):c.2307del (p.Asn769fs)
|
rs1060499800
|
|
NM_000260.4(MYO7A):c.2339del (p.Gly780fs)
|
rs1565402473
|
|
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)
|
rs1555082145
|
|
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)
|
rs778880077
|
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670
|
|
NM_000260.4(MYO7A):c.2464del (p.Ala822fs)
|
|
|
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.2532_2548del (p.Gln844fs)
|
|
|
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys)
|
rs2135473615
|
|
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter)
|
rs1555082994
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.2695-58C>G
|
rs3740762
|
|
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu)
|
rs199979876
|
|
NM_000260.4(MYO7A):c.2750del (p.Glu917fs)
|
rs1591378140
|
|
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile)
|
rs536410625
|
|
NM_000260.4(MYO7A):c.285+1G>T
|
|
|
NM_000260.4(MYO7A):c.285+2T>C
|
rs782292032
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.287C>A (p.Thr96Lys)
|
|
|
NM_000260.4(MYO7A):c.2884C>T (p.Gln962Ter)
|
|
|
NM_000260.4(MYO7A):c.288G>T (p.Thr96=)
|
rs56023295
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
|
NM_000260.4(MYO7A):c.2926_2938del (p.Glu976fs)
|
|
|
NM_000260.4(MYO7A):c.295G>C (p.Gly99Arg)
|
|
|
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu)
|
rs397516298
|
|
NM_000260.4(MYO7A):c.2975_2981delinsCAG (p.Asp992fs)
|
|
|
NM_000260.4(MYO7A):c.3008A>G (p.Lys1003Arg)
|
|
|
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.3050dup (p.Tyr1017Ter)
|
|
|
NM_000260.4(MYO7A):c.3059G>A (p.Arg1020Gln)
|
|
|
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu)
|
rs782192026
|
|
NM_000260.4(MYO7A):c.3108+1G>A
|
rs2135495180
|
|
NM_000260.4(MYO7A):c.3109-15C>T
|
rs369729874
|
|
NM_000260.4(MYO7A):c.3109-27_3109-7dup
|
rs1555085333
|
|
NM_000260.4(MYO7A):c.3109-2A>G
|
|
|
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)
|
rs1555061466
|
|
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys)
|
rs1555061483
|
|
NM_000260.4(MYO7A):c.3224_3225del (p.Ile1074_Tyr1075insTer)
|
|
|
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)
|
rs116892396
|
|
NM_000260.4(MYO7A):c.3286-2A>C
|
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)
|
rs1555085978
|
|
NM_000260.4(MYO7A):c.3346_3347del (p.Leu1116fs)
|
|
|
NM_000260.4(MYO7A):c.3375+33G>C
|
rs948972
|
|
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs)
|
rs1064793208
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000260.4(MYO7A):c.3503+2T>C
|
|
|
NM_000260.4(MYO7A):c.3504-2A>G
|
rs1555090168
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3546C>G (p.Asn1182Lys)
|
|
|
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile)
|
rs1555090314
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
|
rs782694195
|
|
NM_000260.4(MYO7A):c.3596dup (p.Cys1201fs)
|
rs2135550200
|
|
NM_000260.4(MYO7A):c.3599del (p.Gly1200fs)
|
|
|
NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs)
|
|
|
NM_000260.4(MYO7A):c.3631-1G>C
|
rs1555090885
|
|
NM_000260.4(MYO7A):c.3656del (p.Gly1219fs)
|
|
|
NM_000260.4(MYO7A):c.3656dup (p.Pro1221fs)
|
|
|
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser)
|
rs775908821
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3728C>A (p.Pro1243Gln)
|
|
|
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg)
|
rs750358148
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
NM_000260.4(MYO7A):c.3751-14T>C
|
rs1955994846
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs)
|
rs1955999847
|
|
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)
|
rs1555091636
|
|
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs)
|
rs2135562294
|
|
NM_000260.4(MYO7A):c.385G>T (p.Glu129Ter)
|
rs1952428470
|
|
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser)
|
rs749747871
|
|
NM_000260.4(MYO7A):c.3880_3881del (p.Lys1294fs)
|
|
|
NM_000260.4(MYO7A):c.3886C>G (p.Arg1296Gly)
|
|
|
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs)
|
rs2135563245
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu)
|
|
|
NM_000260.4(MYO7A):c.3924+109G>A
|
rs4944148
|
|
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.394C>T (p.Pro132Ser)
|
rs1952429583
|
|
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)
|
rs2135575353
|
|
NM_000260.4(MYO7A):c.3978C>A (p.Cys1326Ter)
|
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397C>G (p.His133Asp)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.3997C>T (p.Gln1333Ter)
|
|
|
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del)
|
rs1555092931
|
|
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)
|
rs1555092993
|
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028
|
|
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.4087G>A (p.Ala1363Thr)
|
|
|
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)
|
rs1480697910
|
|
NM_000260.4(MYO7A):c.4112T>A (p.Val1371Glu)
|
|
|
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln)
|
rs886048677
|
|
NM_000260.4(MYO7A):c.4134_4135dup (p.Glu1379fs)
|
|
|
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His)
|
rs2135577456
|
|
NM_000260.4(MYO7A):c.4153-2A>G
|
rs1060499803
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4153-8C>T
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4168G>T (p.Glu1390Ter)
|
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070
|
|
NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter)
|
rs2135620605
|
|
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)
|
rs1555096223
|
|
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del)
|
rs1432069074
|
|
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter)
|
rs1956759935
|
|
NM_000260.4(MYO7A):c.4403T>A (p.Leu1468Ter)
|
|
|
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln)
|
rs1956761416
|
|
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter)
|
rs1565455391
|
|
NM_000260.4(MYO7A):c.4485G>A (p.Trp1495Ter)
|
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4517del (p.Gln1506fs)
|
|
|
NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys)
|
|
|
NM_000260.4(MYO7A):c.4568+12C>G
|
rs72933642
|
|
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)
|
rs1555100200
|
|
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)
|
rs1952434877
|
|
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser)
|
rs886048678
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs)
|
rs1555100315
|
|
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)
|
rs759430551
|
|
NM_000260.4(MYO7A):c.471-1G>A
|
rs548172627
|
|
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys)
|
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.4837_4839dup (p.Asp1613dup)
|
rs1555100610
|
|
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs)
|
rs1555100625
|
|
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs)
|
rs1188637368
|
|
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)
|
rs1555101858
|
|
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)
|
rs1201586094
|
|
NM_000260.4(MYO7A):c.496del (p.Glu166fs)
|
rs111033448
|
|
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)
|
rs1401619267
|
|
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs)
|
rs1555102041
|
|
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp)
|
rs1957069970
|
|
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)
|
rs766461538
|
|
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=)
|
rs886048679
|
|
NM_000260.4(MYO7A):c.5043+1G>T
|
rs1555102147
|
|
NM_000260.4(MYO7A):c.5043G>A (p.Val1681=)
|
rs1295009131
|
|
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=)
|
rs886048680
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.5127del (p.Lys1710fs)
|
|
|
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del)
|
rs1555102843
|
|
NM_000260.4(MYO7A):c.5168+2T>C
|
rs1192104600
|
|
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)
|
rs782347270
|
|
NM_000260.4(MYO7A):c.5187_5188del (p.Leu1730fs)
|
|
|
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs)
|
rs111033276
|
|
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=)
|
rs886048681
|
|
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)
|
rs111033477
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs)
|
rs1555103458
|
|
NM_000260.4(MYO7A):c.523del (p.Leu175fs)
|
|
|
NM_000260.4(MYO7A):c.5248del (p.Glu1750fs)
|
|
|
NM_000260.4(MYO7A):c.5258dup (p.Gln1754fs)
|
|
|
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)
|
rs1555103532
|
|
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter)
|
|
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455
|
|
NM_000260.4(MYO7A):c.5327-10C>G
|
rs781062618
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000260.4(MYO7A):c.535A>G (p.Ser179Gly)
|
|
|
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=)
|
rs1957274964
|
|
NM_000260.4(MYO7A):c.5411del (p.Leu1804fs)
|
|
|
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del)
|
rs1957277819
|
|
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)
|
rs778009227
|
|
NM_000260.4(MYO7A):c.5441_5442dup (p.Val1815fs)
|
|
|
NM_000260.4(MYO7A):c.5481-1G>C
|
rs1555105118
|
|
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)
|
rs1555105135
|
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151
|
|
NM_000260.4(MYO7A):c.5515_5516del (p.Leu1839fs)
|
|
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202
|
|
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro)
|
|
|
NM_000260.4(MYO7A):c.5589C>T (p.His1863=)
|
rs727504024
|
|
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.5605G>A (p.Asp1869Asn)
|
|
|
NM_000260.4(MYO7A):c.5618G>T (p.Arg1873Leu)
|
|
|
NM_000260.4(MYO7A):c.5626A>T (p.Lys1876Ter)
|
|
|
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)
|
rs1299898646
|
|
NM_000260.4(MYO7A):c.5659C>A (p.Pro1887Thr)
|
|
|
NM_000260.4(MYO7A):c.565_566del (p.Val189fs)
|
rs1060499651
|
|
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=)
|
rs747516555
|
|
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln)
|
rs886048672
|
|
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu)
|
rs1555106562
|
|
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter)
|
rs1957512851
|
|
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)
|
rs1188616455
|
|
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)
|
rs1555106609
|
|
NM_000260.4(MYO7A):c.5819C>T (p.Ser1940Leu)
|
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.5856+1G>A
|
|
|
NM_000260.4(MYO7A):c.5856+2_5856+4del
|
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NM_000260.4(MYO7A):c.5856+5G>C
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rs1386887007
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NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
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rs948962
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NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)
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rs111033232
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NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)
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rs1397834886
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NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
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NM_000260.4(MYO7A):c.592+2T>A
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NM_000260.4(MYO7A):c.592+2T>C
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NM_000260.4(MYO7A):c.5945-9G>C
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rs1233077552
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NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met)
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rs377517717
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NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs)
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rs1555107555
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NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile)
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rs1957642204
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NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
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rs397516326
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NM_000260.4(MYO7A):c.6042C>G (p.His2014Gln)
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NM_000260.4(MYO7A):c.604del (p.Ala202fs)
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NM_000260.4(MYO7A):c.6051+1G>A
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rs1403288739
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NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
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rs876657655
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NM_000260.4(MYO7A):c.6079_6081del (p.His2027del)
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rs1957839812
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NM_000260.4(MYO7A):c.6113G>A (p.Gly2038Glu)
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NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)
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rs1957844295
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NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
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rs1060499801
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NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser)
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rs878853235
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NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs)
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rs2135785861
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NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp)
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rs759614902
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NM_000260.4(MYO7A):c.6237+1G>A
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rs1338605788
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NM_000260.4(MYO7A):c.6238-2A>C
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rs1555109612
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NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)
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rs773945008
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NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro)
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rs2135791193
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NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu)
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rs1555109788
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NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala)
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rs1555109806
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NM_000260.4(MYO7A):c.6433del (p.Thr2145fs)
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rs1555110680
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NM_000260.4(MYO7A):c.6439-1G>A
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rs1591514873
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NM_000260.4(MYO7A):c.6459del (p.Phe2154fs)
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rs1555111077
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NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile)
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rs1408119204
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NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly)
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rs1003695470
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NM_000260.4(MYO7A):c.6479G>A (p.Trp2160Ter)
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NM_000260.4(MYO7A):c.6491del (p.Asn2164fs)
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rs2135802675
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NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile)
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rs544709413
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NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr)
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rs1591515086
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NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser)
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rs1382157968
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NM_000260.4(MYO7A):c.6559-11C>T
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rs34517202
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NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
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rs397516332
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NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)
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rs1555111501
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NM_000260.4(MYO7A):c.674del (p.Gly225fs)
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|
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NM_000260.4(MYO7A):c.701A>G (p.Gln234Arg)
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NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)
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NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
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rs782166819
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NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)
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rs121965081
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NM_000260.4(MYO7A):c.736-2A>C
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NM_000260.4(MYO7A):c.736-3C>T
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rs1555063792
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NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
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rs782252317
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NM_000260.4(MYO7A):c.754_757dup (p.His253fs)
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NM_000260.4(MYO7A):c.75_76del (p.Ala26fs)
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NM_000260.4(MYO7A):c.765C>A (p.Phe255Leu)
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NM_000260.4(MYO7A):c.76del (p.Ala26fs)
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NM_000260.4(MYO7A):c.788del (p.Ser263fs)
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NM_000260.4(MYO7A):c.832del (p.Tyr278fs)
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NM_000260.4(MYO7A):c.834C>G (p.Tyr278Ter)
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NM_000260.4(MYO7A):c.843G>A (p.Leu281=)
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rs1555064274
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NM_000260.4(MYO7A):c.846dup (p.Met283fs)
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NM_000260.4(MYO7A):c.849_850insA (p.Gly284fs)
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NM_000260.4(MYO7A):c.850-2A>T
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NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
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rs35689081
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NM_000260.4(MYO7A):c.93C>T (p.Cys31=)
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rs35689081
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NM_000260.4(MYO7A):c.947G>A (p.Trp316Ter)
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NM_000260.4(MYO7A):c.972del (p.Ile325fs)
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NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
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rs797044491
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NM_000260.4(MYO7A):c.979_985dup (p.Gly329fs)
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NM_000260.4(MYO7A):c.982del (p.Leu328fs)
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