NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=)
|
rs2955379
|
0.99481
|
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)
|
rs854777
|
0.79149
|
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=)
|
rs854800
|
0.78890
|
NM_016239.4(MYO15A):c.5826-12A>C
|
rs854778
|
0.76256
|
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=)
|
rs854772
|
0.55976
|
NM_016239.4(MYO15A):c.4954C>T (p.Leu1652=)
|
rs2280777
|
0.52028
|
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=)
|
rs2955366
|
0.41355
|
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr)
|
rs2955365
|
0.39950
|
NM_016239.4(MYO15A):c.8322C>T (p.Ser2774=)
|
rs712272
|
0.34416
|
NM_016239.4(MYO15A):c.8045A>T (p.Tyr2682Phe)
|
rs712270
|
0.34278
|
NM_016239.4(MYO15A):c.8460-15C>T
|
rs861278
|
0.34259
|
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly)
|
rs2955367
|
0.34123
|
NM_016239.4(MYO15A):c.9518-11T>C
|
rs62073604
|
0.19159
|
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=)
|
rs8077577
|
0.19129
|
NM_016239.4(MYO15A):c.5212-14C>T
|
rs2072652
|
0.16745
|
NM_016239.4(MYO15A):c.6052G>A (p.Gly2018Arg)
|
rs2272571
|
0.16711
|
NM_016239.4(MYO15A):c.7655-17G>A
|
rs2056841
|
0.15514
|
NM_016239.4(MYO15A):c.5649+14G>A
|
rs2072653
|
0.15358
|
NM_016239.4(MYO15A):c.7468G>A (p.Ala2490Thr)
|
rs16960959
|
0.03924
|
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=)
|
rs16960961
|
0.02872
|
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro)
|
rs372125621
|
0.02081
|
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=)
|
rs114328138
|
0.01906
|
NM_016239.4(MYO15A):c.3413A>G (p.Gln1138Arg)
|
rs76468019
|
0.01903
|
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=)
|
rs115393178
|
0.01622
|
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser)
|
rs79760961
|
0.01604
|
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser)
|
rs143316414
|
0.01192
|
NM_016239.4(MYO15A):c.8262G>A (p.Thr2754=)
|
rs1006770
|
0.01178
|
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=)
|
rs114552047
|
0.01041
|
NM_016239.4(MYO15A):c.4206+13C>G
|
rs141183007
|
0.00838
|
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met)
|
rs114274755
|
0.00791
|
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser)
|
rs76707172
|
0.00765
|
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=)
|
rs577023485
|
0.00762
|
NM_016239.4(MYO15A):c.6336C>T (p.Tyr2112=)
|
rs76886140
|
0.00725
|
NM_016239.4(MYO15A):c.3140C>G (p.Pro1047Arg)
|
rs77565048
|
0.00686
|
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=)
|
rs79230542
|
0.00665
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)
|
rs121908970
|
0.00599
|
NM_016239.4(MYO15A):c.2790C>T (p.Asp930=)
|
rs185688918
|
0.00559
|
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=)
|
rs55688805
|
0.00470
|
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=)
|
rs59933498
|
0.00463
|
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His)
|
rs139347804
|
0.00451
|
NM_016239.4(MYO15A):c.1941A>C (p.Pro647=)
|
rs537016494
|
0.00437
|
NM_016239.4(MYO15A):c.3201G>A (p.Ala1067=)
|
rs148356427
|
0.00415
|
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=)
|
rs182293382
|
0.00413
|
NM_016239.4(MYO15A):c.3866+18G>A
|
rs73979300
|
0.00413
|
NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met)
|
rs143826293
|
0.00394
|
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His)
|
rs117612144
|
0.00347
|
NM_016239.4(MYO15A):c.5880C>T (p.His1960=)
|
rs201487604
|
0.00331
|
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)
|
rs145292219
|
0.00326
|
NM_016239.4(MYO15A):c.1158C>T (p.Gly386=)
|
rs186829587
|
0.00324
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=)
|
rs188485743
|
0.00264
|
NM_016239.4(MYO15A):c.4779+9G>A
|
rs183256997
|
0.00264
|
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=)
|
rs148723625
|
0.00241
|
NM_016239.4(MYO15A):c.5910+17A>C
|
rs58914384
|
0.00235
|
NM_016239.4(MYO15A):c.2020C>T (p.Pro674Ser)
|
rs557225435
|
0.00223
|
NM_016239.4(MYO15A):c.5133+15A>G
|
rs150128469
|
0.00214
|
NM_016239.4(MYO15A):c.7655-7C>G
|
rs191171943
|
0.00211
|
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=)
|
rs190486507
|
0.00208
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)
|
rs201234482
|
0.00191
|
NM_016239.4(MYO15A):c.8811C>T (p.His2937=)
|
rs200583193
|
0.00190
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
|
rs200623501
|
0.00168
|
NM_016239.4(MYO15A):c.8841G>A (p.Leu2947=)
|
rs201809145
|
0.00166
|
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)
|
rs183969516
|
0.00158
|
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=)
|
rs926074
|
0.00155
|
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)
|
rs200382813
|
0.00153
|
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly)
|
rs182332665
|
0.00151
|
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=)
|
rs186426892
|
0.00146
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met)
|
rs140140417
|
0.00139
|
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser)
|
rs376451611
|
0.00132
|
NM_016239.4(MYO15A):c.4655+11G>A
|
rs117021471
|
0.00132
|
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=)
|
rs141475629
|
0.00123
|
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=)
|
rs201535856
|
0.00118
|
NM_016239.4(MYO15A):c.5008-16C>G
|
rs201902358
|
0.00117
|
NM_016239.4(MYO15A):c.2150G>C (p.Ser717Thr)
|
rs546018470
|
0.00113
|
NM_016239.4(MYO15A):c.2163C>T (p.Phe721=)
|
rs572234398
|
0.00113
|
NM_016239.4(MYO15A):c.2354G>T (p.Gly785Val)
|
rs368667118
|
0.00112
|
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser)
|
rs199695398
|
0.00111
|
NM_016239.4(MYO15A):c.9506T>C (p.Leu3169Pro)
|
rs200677882
|
0.00110
|
NM_016239.4(MYO15A):c.9691-3C>A
|
rs142996507
|
0.00110
|
NM_016239.4(MYO15A):c.7788-5C>T
|
rs187668960
|
0.00108
|
NM_016239.4(MYO15A):c.8441G>A (p.Arg2814Gln)
|
rs148595690
|
0.00108
|
NM_016239.4(MYO15A):c.7202A>G (p.Tyr2401Cys)
|
rs200715285
|
0.00107
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn)
|
rs201737186
|
0.00099
|
NM_016239.4(MYO15A):c.1387A>G (p.Met463Val)
|
rs201794569
|
0.00096
|
NM_016239.4(MYO15A):c.7655-16C>T
|
rs376816545
|
0.00093
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00089
|
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=)
|
rs564053026
|
0.00087
|
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu)
|
rs58625281
|
0.00087
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
NM_016239.4(MYO15A):c.969G>A (p.Ser323=)
|
rs371387378
|
0.00077
|
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr)
|
rs373294263
|
0.00076
|
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp)
|
rs201028204
|
0.00073
|
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro)
|
rs199537186
|
0.00073
|
NM_016239.4(MYO15A):c.8157C>T (p.His2719=)
|
rs373955726
|
0.00067
|
NM_016239.4(MYO15A):c.8224+8G>C
|
rs115647199
|
0.00067
|
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val)
|
rs199740747
|
0.00063
|
NM_016239.4(MYO15A):c.3363G>A (p.Val1121=)
|
rs201197589
|
0.00063
|
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys)
|
rs201618718
|
0.00063
|
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=)
|
rs146245515
|
0.00063
|
NM_016239.4(MYO15A):c.5532-10C>T
|
rs200169924
|
0.00062
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
NM_016239.4(MYO15A):c.8895C>T (p.Arg2965=)
|
rs200926400
|
0.00057
|
NM_016239.4(MYO15A):c.9369C>T (p.Asp3123=)
|
rs150889871
|
0.00057
|
NM_016239.4(MYO15A):c.4710G>A (p.Arg1570=)
|
rs112387527
|
0.00056
|
NM_016239.4(MYO15A):c.7473+10G>T
|
rs181355572
|
0.00054
|
NM_016239.4(MYO15A):c.3359G>A (p.Arg1120His)
|
rs200738532
|
0.00053
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00051
|
NM_016239.4(MYO15A):c.393C>G (p.Ser131=)
|
rs750022100
|
0.00050
|
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp)
|
rs149813580
|
0.00049
|
NM_016239.4(MYO15A):c.7467C>T (p.Pro2489=)
|
rs146973735
|
0.00049
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg)
|
rs200843771
|
0.00046
|
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro)
|
rs201826872
|
0.00046
|
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=)
|
rs183834387
|
0.00045
|
NM_016239.4(MYO15A):c.858C>G (p.Pro286=)
|
rs200424851
|
0.00045
|
NM_016239.4(MYO15A):c.915C>T (p.Tyr305=)
|
rs200695102
|
0.00045
|
NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=)
|
rs149189607
|
0.00042
|
NM_016239.4(MYO15A):c.7068C>T (p.Asp2356=)
|
rs373935449
|
0.00041
|
NM_016239.4(MYO15A):c.2517G>A (p.Pro839=)
|
rs911527113
|
0.00040
|
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=)
|
rs192570479
|
0.00040
|
NM_016239.4(MYO15A):c.876C>T (p.Pro292=)
|
rs368755362
|
0.00039
|
NM_016239.4(MYO15A):c.1562C>T (p.Pro521Leu)
|
rs867630446
|
0.00038
|
NM_016239.4(MYO15A):c.6112C>T (p.Arg2038Cys)
|
rs146633221
|
0.00037
|
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln)
|
rs200456053
|
0.00036
|
NM_016239.4(MYO15A):c.1359C>T (p.Pro453=)
|
rs374011803
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala)
|
rs201246214
|
0.00036
|
NM_016239.4(MYO15A):c.6743C>T (p.Ala2248Val)
|
rs199831544
|
0.00036
|
NM_016239.4(MYO15A):c.6560G>A (p.Arg2187His)
|
rs199913622
|
0.00034
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)
|
rs368682932
|
0.00033
|
NM_016239.4(MYO15A):c.3647G>A (p.Arg1216His)
|
rs202148411
|
0.00032
|
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)
|
rs199899548
|
0.00032
|
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala)
|
rs368760461
|
0.00032
|
NM_016239.4(MYO15A):c.9613-13C>T
|
rs368335921
|
0.00032
|
NM_016239.4(MYO15A):c.2705C>T (p.Ala902Val)
|
rs568115513
|
0.00030
|
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)
|
rs201794696
|
0.00029
|
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu)
|
rs993096170
|
0.00029
|
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu)
|
rs772776336
|
0.00028
|
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn)
|
rs368603235
|
0.00028
|
NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln)
|
rs200605472
|
0.00027
|
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)
|
rs199783506
|
0.00026
|
NM_016239.4(MYO15A):c.7926G>A (p.Pro2642=)
|
rs372373045
|
0.00026
|
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His)
|
rs199621031
|
0.00026
|
NM_016239.4(MYO15A):c.9873C>T (p.Leu3291=)
|
rs146865523
|
0.00026
|
NM_016239.4(MYO15A):c.7396-8C>G
|
rs370351502
|
0.00025
|
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu)
|
rs201763265
|
0.00024
|
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val)
|
rs200249886
|
0.00024
|
NM_016239.4(MYO15A):c.2478A>C (p.Pro826=)
|
rs552767462
|
0.00024
|
NM_016239.4(MYO15A):c.250T>A (p.Ser84Thr)
|
rs188609046
|
0.00024
|
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln)
|
rs117071200
|
0.00024
|
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=)
|
rs200222411
|
0.00023
|
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met)
|
rs201214320
|
0.00023
|
NM_016239.4(MYO15A):c.8652G>A (p.Ala2884=)
|
rs373922407
|
0.00023
|
NM_016239.4(MYO15A):c.9304-16C>T
|
rs371724747
|
0.00023
|
NM_016239.4(MYO15A):c.6274-10C>T
|
rs201459354
|
0.00022
|
NM_016239.4(MYO15A):c.4038+19T>C
|
rs754219776
|
0.00021
|
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=)
|
rs201026034
|
0.00021
|
NM_016239.4(MYO15A):c.7266C>T (p.Pro2422=)
|
rs201610682
|
0.00021
|
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln)
|
rs761180573
|
0.00021
|
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)
|
rs200781310
|
0.00020
|
NM_016239.4(MYO15A):c.8781C>T (p.Pro2927=)
|
rs376495526
|
0.00020
|
NM_016239.4(MYO15A):c.10077G>A (p.Pro3359=)
|
rs367627564
|
0.00018
|
NM_016239.4(MYO15A):c.3012A>G (p.Ser1004=)
|
rs376387472
|
0.00018
|
NM_016239.4(MYO15A):c.4407T>C (p.Ser1469=)
|
rs202180744
|
0.00018
|
NM_016239.4(MYO15A):c.5360+13G>T
|
rs374693221
|
0.00018
|
NM_016239.4(MYO15A):c.9522C>T (p.Ile3174=)
|
rs200416838
|
0.00018
|
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr)
|
rs932191004
|
0.00017
|
NM_016239.4(MYO15A):c.6274-17C>T
|
rs376467285
|
0.00017
|
NM_016239.4(MYO15A):c.10083-8G>A
|
rs530491609
|
0.00016
|
NM_016239.4(MYO15A):c.4207-12C>T
|
rs374937158
|
0.00016
|
NM_016239.4(MYO15A):c.4482+10C>T
|
rs200857668
|
0.00016
|
NM_016239.4(MYO15A):c.4596C>T (p.Thr1532=)
|
rs188269446
|
0.00016
|
NM_016239.4(MYO15A):c.5100C>T (p.Thr1700=)
|
rs529758445
|
0.00016
|
NM_016239.4(MYO15A):c.5568G>A (p.Pro1856=)
|
rs374927379
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_016239.4(MYO15A):c.6060C>T (p.Ala2020=)
|
rs370091178
|
0.00016
|
NM_016239.4(MYO15A):c.850G>A (p.Glu284Lys)
|
rs201006627
|
0.00016
|
NM_016239.4(MYO15A):c.2287C>T (p.Arg763Trp)
|
rs754311954
|
0.00015
|
NM_016239.4(MYO15A):c.2823C>T (p.Ser941=)
|
rs750070326
|
0.00015
|
NM_016239.4(MYO15A):c.3092C>T (p.Thr1031Ile)
|
rs377182808
|
0.00015
|
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys)
|
rs546203218
|
0.00015
|
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly)
|
rs199953758
|
0.00015
|
NM_016239.4(MYO15A):c.9072G>A (p.Gln3024=)
|
rs371857911
|
0.00015
|
NM_016239.4(MYO15A):c.4038+7A>T
|
rs1322498025
|
0.00014
|
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr)
|
rs201808265
|
0.00014
|
NM_016239.4(MYO15A):c.4875+3G>A
|
rs200246472
|
0.00014
|
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr)
|
rs201541616
|
0.00014
|
NM_016239.4(MYO15A):c.8795G>A (p.Arg2932Lys)
|
rs201940959
|
0.00014
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=)
|
rs547305039
|
0.00013
|
NM_016239.4(MYO15A):c.447G>C (p.Ser149=)
|
rs762721401
|
0.00013
|
NM_016239.4(MYO15A):c.5777G>A (p.Arg1926His)
|
rs199734245
|
0.00013
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_016239.4(MYO15A):c.959C>G (p.Ser320Trp)
|
rs200056157
|
0.00013
|
NM_016239.4(MYO15A):c.10420A>G (p.Ser3474Gly)
|
rs150181830
|
0.00012
|
NM_016239.4(MYO15A):c.6720C>G (p.Ser2240=)
|
rs367799231
|
0.00012
|
NM_016239.4(MYO15A):c.885C>T (p.Tyr295=)
|
rs548613205
|
0.00012
|
NM_016239.4(MYO15A):c.3384G>A (p.Gln1128=)
|
rs535308861
|
0.00011
|
NM_016239.4(MYO15A):c.4461C>T (p.Asn1487=)
|
rs201076604
|
0.00011
|
NM_016239.4(MYO15A):c.549T>C (p.Pro183=)
|
rs200088596
|
0.00011
|
NM_016239.4(MYO15A):c.5965-8C>T
|
rs766643065
|
0.00011
|
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp)
|
rs773551819
|
0.00011
|
NM_016239.4(MYO15A):c.6581G>A (p.Arg2194Gln)
|
rs375638438
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_016239.4(MYO15A):c.3866+12G>A
|
rs533500962
|
0.00010
|
NM_016239.4(MYO15A):c.4641C>T (p.Ser1547=)
|
rs370537846
|
0.00010
|
NM_016239.4(MYO15A):c.6046+19G>C
|
rs774770471
|
0.00010
|
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met)
|
rs753611930
|
0.00010
|
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=)
|
rs369717113
|
0.00010
|
NM_016239.4(MYO15A):c.8346C>T (p.Ser2782=)
|
rs749793925
|
0.00010
|
NM_016239.4(MYO15A):c.9602G>A (p.Arg3201Gln)
|
rs757095519
|
0.00010
|
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala)
|
rs376432083
|
0.00009
|
NM_016239.4(MYO15A):c.1047C>T (p.Tyr349=)
|
rs567657743
|
0.00009
|
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His)
|
rs552189642
|
0.00009
|
NM_016239.4(MYO15A):c.3757-13G>A
|
rs370530786
|
0.00009
|
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly)
|
rs200041829
|
0.00009
|
NM_016239.4(MYO15A):c.5964+3G>C
|
rs530975087
|
0.00009
|
NM_016239.4(MYO15A):c.642C>T (p.Phe214=)
|
rs766970263
|
0.00009
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00009
|
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val)
|
rs201073816
|
0.00009
|
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg)
|
rs201542989
|
0.00009
|
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His)
|
rs377389290
|
0.00009
|
NM_016239.4(MYO15A):c.9665G>A (p.Arg3222His)
|
rs201712137
|
0.00009
|
NM_016239.4(MYO15A):c.1418T>G (p.Leu473Arg)
|
rs370497397
|
0.00008
|
NM_016239.4(MYO15A):c.4717G>A (p.Ala1573Thr)
|
rs760537217
|
0.00008
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_016239.4(MYO15A):c.4807C>T (p.Leu1603=)
|
rs368865502
|
0.00008
|
NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met)
|
rs368883957
|
0.00008
|
NM_016239.4(MYO15A):c.5830C>T (p.Arg1944Cys)
|
rs199968059
|
0.00008
|
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro)
|
rs201908493
|
0.00008
|
NM_016239.4(MYO15A):c.6795C>T (p.Thr2265=)
|
rs78015149
|
0.00008
|
NM_016239.4(MYO15A):c.7998G>C (p.Glu2666Asp)
|
rs1189743489
|
0.00008
|
NM_016239.4(MYO15A):c.9115C>T (p.Arg3039Trp)
|
rs770756964
|
0.00008
|
NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn)
|
rs962124239
|
0.00007
|
NM_016239.4(MYO15A):c.4038+6_4038+7insTG
|
rs759039332
|
0.00007
|
NM_016239.4(MYO15A):c.5134-14G>T
|
rs767228921
|
0.00007
|
NM_016239.4(MYO15A):c.7212G>A (p.Ala2404=)
|
rs200000232
|
0.00007
|
NM_016239.4(MYO15A):c.7606C>T (p.Pro2536Ser)
|
rs772858807
|
0.00007
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg)
|
rs376470294
|
0.00007
|
NM_016239.4(MYO15A):c.10053C>T (p.Arg3351=)
|
rs1378063893
|
0.00006
|
NM_016239.4(MYO15A):c.10083-4A>C
|
rs550552225
|
0.00006
|
NM_016239.4(MYO15A):c.10227C>T (p.Ser3409=)
|
rs199520412
|
0.00006
|
NM_016239.4(MYO15A):c.10491+16A>G
|
rs763145240
|
0.00006
|
NM_016239.4(MYO15A):c.215G>A (p.Arg72His)
|
rs759523877
|
0.00006
|
NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg)
|
rs781006180
|
0.00006
|
NM_016239.4(MYO15A):c.264G>A (p.Thr88=)
|
rs571886925
|
0.00006
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
NM_016239.4(MYO15A):c.381C>G (p.Leu127=)
|
rs199520255
|
0.00006
|
NM_016239.4(MYO15A):c.3909C>T (p.Leu1303=)
|
rs377070697
|
0.00006
|
NM_016239.4(MYO15A):c.3910G>A (p.Asp1304Asn)
|
rs139329625
|
0.00006
|
NM_016239.4(MYO15A):c.3942-7C>T
|
rs113394958
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met)
|
rs760534158
|
0.00006
|
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln)
|
rs769189017
|
0.00006
|
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala)
|
rs761670755
|
0.00006
|
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys)
|
rs191828237
|
0.00006
|
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln)
|
rs769596933
|
0.00006
|
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys)
|
rs374485649
|
0.00006
|
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=)
|
rs374951514
|
0.00006
|
NM_016239.4(MYO15A):c.6981G>A (p.Ser2327=)
|
rs377504192
|
0.00006
|
NM_016239.4(MYO15A):c.7499C>T (p.Pro2500Leu)
|
rs779220177
|
0.00006
|
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser)
|
rs371730430
|
0.00006
|
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn)
|
rs374160194
|
0.00006
|
NM_016239.4(MYO15A):c.8714-1G>A
|
rs377015931
|
0.00006
|
NM_016239.4(MYO15A):c.9310G>A (p.Gly3104Arg)
|
rs781537466
|
0.00006
|
NM_016239.4(MYO15A):c.9436C>T (p.His3146Tyr)
|
rs201230033
|
0.00006
|
NM_016239.4(MYO15A):c.9585C>T (p.Pro3195=)
|
rs1007046371
|
0.00006
|
NM_016239.4(MYO15A):c.10128G>A (p.Thr3376=)
|
rs779726809
|
0.00005
|
NM_016239.4(MYO15A):c.2200G>A (p.Asp734Asn)
|
rs1435631082
|
0.00005
|
NM_016239.4(MYO15A):c.3261C>T (p.Ala1087=)
|
rs776352434
|
0.00005
|
NM_016239.4(MYO15A):c.4526T>C (p.Ile1509Thr)
|
rs757305597
|
0.00005
|
NM_016239.4(MYO15A):c.4718C>T (p.Ala1573Val)
|
rs764012209
|
0.00005
|
NM_016239.4(MYO15A):c.4875+11C>T
|
rs780276809
|
0.00005
|
NM_016239.4(MYO15A):c.5301G>A (p.Ala1767=)
|
rs371647200
|
0.00005
|
NM_016239.4(MYO15A):c.530G>T (p.Gly177Val)
|
rs772969960
|
0.00005
|
NM_016239.4(MYO15A):c.5768G>A (p.Arg1923His)
|
rs571036199
|
0.00005
|
NM_016239.4(MYO15A):c.5886C>T (p.Tyr1962=)
|
rs727503310
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_016239.4(MYO15A):c.6012G>A (p.Pro2004=)
|
rs764096773
|
0.00005
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
NM_016239.4(MYO15A):c.6624G>A (p.Pro2208=)
|
rs560456552
|
0.00005
|
NM_016239.4(MYO15A):c.6864G>A (p.Ser2288=)
|
rs727503313
|
0.00005
|
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys)
|
rs142465521
|
0.00005
|
NM_016239.4(MYO15A):c.8602-10G>T
|
rs374176599
|
0.00005
|
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter)
|
rs373462792
|
0.00005
|
NM_016239.4(MYO15A):c.8944C>G (p.Gln2982Glu)
|
rs774312110
|
0.00005
|
NM_016239.4(MYO15A):c.9304-15C>T
|
rs753539094
|
0.00005
|
NM_016239.4(MYO15A):c.10202G>A (p.Arg3401His)
|
rs370278266
|
0.00004
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
NM_016239.4(MYO15A):c.1849A>C (p.Met617Leu)
|
rs771145836
|
0.00004
|
NM_016239.4(MYO15A):c.2095C>T (p.Arg699Cys)
|
rs1171884178
|
0.00004
|
NM_016239.4(MYO15A):c.2159C>T (p.Ala720Val)
|
rs746972322
|
0.00004
|
NM_016239.4(MYO15A):c.2385G>A (p.Pro795=)
|
rs747502904
|
0.00004
|
NM_016239.4(MYO15A):c.2557C>A (p.Leu853Ile)
|
rs930912569
|
0.00004
|
NM_016239.4(MYO15A):c.2987C>G (p.Pro996Arg)
|
rs201087528
|
0.00004
|
NM_016239.4(MYO15A):c.3897C>T (p.Phe1299=)
|
rs761922773
|
0.00004
|
NM_016239.4(MYO15A):c.4251C>T (p.Ala1417=)
|
rs764113282
|
0.00004
|
NM_016239.4(MYO15A):c.4876-8G>A
|
rs367916338
|
0.00004
|
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=)
|
rs773598909
|
0.00004
|
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=)
|
rs767426819
|
0.00004
|
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=)
|
rs370047914
|
0.00004
|
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His)
|
rs374249526
|
0.00004
|
NM_016239.4(MYO15A):c.5934G>A (p.Gln1978=)
|
rs542354280
|
0.00004
|
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp)
|
rs759663463
|
0.00004
|
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln)
|
rs368053088
|
0.00004
|
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu)
|
rs376939609
|
0.00004
|
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=)
|
rs531965733
|
0.00004
|
NM_016239.4(MYO15A):c.7502C>T (p.Thr2501Met)
|
rs749920996
|
0.00004
|
NM_016239.4(MYO15A):c.754C>G (p.His252Asp)
|
rs747721069
|
0.00004
|
NM_016239.4(MYO15A):c.7582A>G (p.Lys2528Glu)
|
rs768607209
|
0.00004
|
NM_016239.4(MYO15A):c.7787+16G>A
|
rs753785218
|
0.00004
|
NM_016239.4(MYO15A):c.8925G>A (p.Val2975=)
|
rs769056130
|
0.00004
|
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp)
|
rs770104934
|
0.00004
|
NM_016239.4(MYO15A):c.9329G>A (p.Arg3110Gln)
|
rs199900657
|
0.00004
|
NM_016239.4(MYO15A):c.9441C>T (p.Ser3147=)
|
rs556795712
|
0.00004
|
NM_016239.4(MYO15A):c.9518-10G>A
|
rs570587230
|
0.00004
|
NM_016239.4(MYO15A):c.10216+7G>A
|
rs754372737
|
0.00003
|
NM_016239.4(MYO15A):c.1762C>A (p.Arg588=)
|
rs774157005
|
0.00003
|
NM_016239.4(MYO15A):c.2055G>C (p.Ser685=)
|
rs912974134
|
0.00003
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
NM_016239.4(MYO15A):c.3640C>A (p.Arg1214=)
|
rs201056676
|
0.00003
|
NM_016239.4(MYO15A):c.3756+1G>T
|
rs748108031
|
0.00003
|
NM_016239.4(MYO15A):c.3807A>G (p.Gly1269=)
|
rs766863440
|
0.00003
|
NM_016239.4(MYO15A):c.3891C>T (p.Leu1297=)
|
rs369087707
|
0.00003
|
NM_016239.4(MYO15A):c.4038+17T>C
|
rs761109391
|
0.00003
|
NM_016239.4(MYO15A):c.5028A>G (p.Leu1676=)
|
rs926008291
|
0.00003
|
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln)
|
rs780165350
|
0.00003
|
NM_016239.4(MYO15A):c.6692-8C>T
|
rs772345983
|
0.00003
|
NM_016239.4(MYO15A):c.6980C>T (p.Ser2327Leu)
|
rs752127859
|
0.00003
|
NM_016239.4(MYO15A):c.8225-13T>C
|
rs748943724
|
0.00003
|
NM_016239.4(MYO15A):c.8334C>T (p.Pro2778=)
|
rs545645668
|
0.00003
|
NM_016239.4(MYO15A):c.8651C>T (p.Ala2884Val)
|
rs199864860
|
0.00003
|
NM_016239.4(MYO15A):c.9702C>T (p.Asp3234=)
|
rs768813635
|
0.00003
|
NM_016239.4(MYO15A):c.9912C>T (p.Phe3304=)
|
rs199560726
|
0.00003
|
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys)
|
rs535441567
|
0.00003
|
NM_016239.4(MYO15A):c.1374C>G (p.Phe458Leu)
|
rs546359628
|
0.00002
|
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg)
|
rs1462012083
|
0.00002
|
NM_016239.4(MYO15A):c.2311del (p.Ser771fs)
|
rs754865266
|
0.00002
|
NM_016239.4(MYO15A):c.2805C>T (p.Pro935=)
|
rs775694870
|
0.00002
|
NM_016239.4(MYO15A):c.2926C>T (p.Leu976Phe)
|
rs565870287
|
0.00002
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_016239.4(MYO15A):c.352_360del (p.Gly118_Leu120del)
|
rs765087398
|
0.00002
|
NM_016239.4(MYO15A):c.3585C>T (p.Val1195=)
|
rs1398856621
|
0.00002
|
NM_016239.4(MYO15A):c.4015C>T (p.Arg1339Trp)
|
rs374336846
|
0.00002
|
NM_016239.4(MYO15A):c.4038+3A>G
|
rs564616200
|
0.00002
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
NM_016239.4(MYO15A):c.4483-6G>A
|
rs771397877
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_016239.4(MYO15A):c.5111A>G (p.Tyr1704Cys)
|
rs758420321
|
0.00002
|
NM_016239.4(MYO15A):c.5260C>T (p.Arg1754Cys)
|
rs371135457
|
0.00002
|
NM_016239.4(MYO15A):c.5361-1G>T
|
rs369700898
|
0.00002
|
NM_016239.4(MYO15A):c.5649+13C>T
|
rs539268741
|
0.00002
|
NM_016239.4(MYO15A):c.5742T>C (p.Arg1914=)
|
rs778007903
|
0.00002
|
NM_016239.4(MYO15A):c.6651T>C (p.Tyr2217=)
|
rs763128682
|
0.00002
|
NM_016239.4(MYO15A):c.6657G>A (p.Lys2219=)
|
rs727504708
|
0.00002
|
NM_016239.4(MYO15A):c.6692-7G>A
|
rs998628316
|
0.00002
|
NM_016239.4(MYO15A):c.675G>C (p.Gly225=)
|
rs763522649
|
0.00002
|
NM_016239.4(MYO15A):c.7788-10A>G
|
rs369105885
|
0.00002
|
NM_016239.4(MYO15A):c.7838C>A (p.Ala2613Asp)
|
rs886043362
|
0.00002
|
NM_016239.4(MYO15A):c.7925C>T (p.Pro2642Leu)
|
rs562914140
|
0.00002
|
NM_016239.4(MYO15A):c.8341-2A>C
|
rs778404517
|
0.00002
|
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His)
|
rs761861080
|
0.00002
|
NM_016239.4(MYO15A):c.8967+7C>G
|
rs764005069
|
0.00002
|
NM_016239.4(MYO15A):c.9023C>T (p.Pro3008Leu)
|
rs765934820
|
0.00002
|
NM_016239.4(MYO15A):c.9029A>T (p.Tyr3010Phe)
|
rs756628195
|
0.00002
|
NM_016239.4(MYO15A):c.931G>T (p.Asp311Tyr)
|
rs876657906
|
0.00002
|
NM_016239.4(MYO15A):c.9515A>G (p.Gln3172Arg)
|
rs375465287
|
0.00002
|
NM_016239.4(MYO15A):c.9530C>T (p.Ala3177Val)
|
rs745499694
|
0.00002
|
NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His)
|
rs373520843
|
0.00002
|
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr)
|
rs369742063
|
0.00002
|
NM_016239.4(MYO15A):c.9989C>T (p.Pro3330Leu)
|
rs773842831
|
0.00002
|
NM_016239.4(MYO15A):c.10080C>T (p.Ser3360=)
|
rs377220224
|
0.00001
|
NM_016239.4(MYO15A):c.10082+1G>A
|
rs772568482
|
0.00001
|
NM_016239.4(MYO15A):c.10193A>T (p.His3398Leu)
|
rs1034282820
|
0.00001
|
NM_016239.4(MYO15A):c.10263C>G (p.Ile3421Met)
|
rs748246442
|
0.00001
|
NM_016239.4(MYO15A):c.1026C>T (p.Tyr342=)
|
rs368278295
|
0.00001
|
NM_016239.4(MYO15A):c.10395G>T (p.Arg3465=)
|
rs747753156
|
0.00001
|
NM_016239.4(MYO15A):c.1041G>A (p.Ala347=)
|
rs527681283
|
0.00001
|
NM_016239.4(MYO15A):c.1114T>C (p.Tyr372His)
|
rs753201327
|
0.00001
|
NM_016239.4(MYO15A):c.150G>A (p.Lys50=)
|
rs1282616549
|
0.00001
|
NM_016239.4(MYO15A):c.2112G>C (p.Trp704Cys)
|
rs1397353590
|
0.00001
|
NM_016239.4(MYO15A):c.2178C>G (p.Ala726=)
|
rs969421672
|
0.00001
|
NM_016239.4(MYO15A):c.2217A>G (p.Pro739=)
|
rs1388007814
|
0.00001
|
NM_016239.4(MYO15A):c.2397G>A (p.Leu799=)
|
rs777279764
|
0.00001
|
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter)
|
rs1233145763
|
0.00001
|
NM_016239.4(MYO15A):c.2445C>T (p.Arg815=)
|
rs1288382132
|
0.00001
|
NM_016239.4(MYO15A):c.2586G>A (p.Leu862=)
|
rs778560276
|
0.00001
|
NM_016239.4(MYO15A):c.2598G>C (p.Ser866=)
|
rs1225257498
|
0.00001
|
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)
|
rs763075073
|
0.00001
|
NM_016239.4(MYO15A):c.2834G>A (p.Gly945Glu)
|
rs377573336
|
0.00001
|
NM_016239.4(MYO15A):c.2961G>A (p.Arg987=)
|
rs1418757082
|
0.00001
|
NM_016239.4(MYO15A):c.3018C>A (p.Gly1006=)
|
rs868037161
|
0.00001
|
NM_016239.4(MYO15A):c.3127_3135del (p.Asp1043_Thr1045del)
|
rs1002944160
|
0.00001
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
0.00001
|
NM_016239.4(MYO15A):c.3602G>A (p.Arg1201Gln)
|
rs557393326
|
0.00001
|
NM_016239.4(MYO15A):c.3646C>T (p.Arg1216Cys)
|
rs547573001
|
0.00001
|
NM_016239.4(MYO15A):c.3751A>C (p.Ile1251Leu)
|
rs755138984
|
0.00001
|
NM_016239.4(MYO15A):c.3756+1G>A
|
rs748108031
|
0.00001
|
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg)
|
rs576515898
|
0.00001
|
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu)
|
rs192483691
|
0.00001
|
NM_016239.4(MYO15A):c.3867-4C>G
|
rs1323926653
|
0.00001
|
NM_016239.4(MYO15A):c.4032+7C>T
|
rs776445855
|
0.00001
|
NM_016239.4(MYO15A):c.4033-10G>T
|
rs1412161040
|
0.00001
|
NM_016239.4(MYO15A):c.4038+15T>C
|
rs753220388
|
0.00001
|
NM_016239.4(MYO15A):c.4142+12C>G
|
rs772584938
|
0.00001
|
NM_016239.4(MYO15A):c.4178T>C (p.Leu1393Pro)
|
rs755138870
|
0.00001
|
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg)
|
rs753790346
|
0.00001
|
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys)
|
rs749812958
|
0.00001
|
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
|
rs767270134
|
0.00001
|
NM_016239.4(MYO15A):c.4462G>A (p.Val1488Ile)
|
rs748323602
|
0.00001
|
NM_016239.4(MYO15A):c.4597-2A>G
|
rs777112605
|
0.00001
|
NM_016239.4(MYO15A):c.4597-9C>T
|
rs117767901
|
0.00001
|
NM_016239.4(MYO15A):c.4602_4603del (p.Met1535fs)
|
rs1287957722
|
0.00001
|
NM_016239.4(MYO15A):c.4656-6dup
|
rs753047838
|
0.00001
|
NM_016239.4(MYO15A):c.4723G>A (p.Val1575Met)
|
rs989547707
|
0.00001
|
NM_016239.4(MYO15A):c.4779+5G>A
|
rs772198042
|
0.00001
|
NM_016239.4(MYO15A):c.4780-9A>C
|
rs768675087
|
0.00001
|
NM_016239.4(MYO15A):c.4827C>T (p.Asn1609=)
|
rs372121604
|
0.00001
|
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr)
|
rs576399072
|
0.00001
|
NM_016239.4(MYO15A):c.5007+7C>T
|
rs771945203
|
0.00001
|
NM_016239.4(MYO15A):c.5406+7G>A
|
rs561642125
|
0.00001
|
NM_016239.4(MYO15A):c.5491G>A (p.Gly1831Arg)
|
rs1260018632
|
0.00001
|
NM_016239.4(MYO15A):c.5502G>A (p.Val1834=)
|
rs759792279
|
0.00001
|
NM_016239.4(MYO15A):c.5650-16T>C
|
rs1265093276
|
0.00001
|
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His)
|
rs374183624
|
0.00001
|
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)
|
rs765468034
|
0.00001
|
NM_016239.4(MYO15A):c.6113G>A (p.Arg2038His)
|
rs368615320
|
0.00001
|
NM_016239.4(MYO15A):c.6237C>T (p.Ala2079=)
|
rs1384341908
|
0.00001
|
NM_016239.4(MYO15A):c.6273+15C>G
|
rs773272314
|
0.00001
|
NM_016239.4(MYO15A):c.6328G>A (p.Gly2110Arg)
|
rs756396137
|
0.00001
|
NM_016239.4(MYO15A):c.6486G>A (p.Pro2162=)
|
rs1313329708
|
0.00001
|
NM_016239.4(MYO15A):c.6530G>A (p.Arg2177Gln)
|
rs575546518
|
0.00001
|
NM_016239.4(MYO15A):c.6600G>A (p.Ser2200=)
|
rs751663619
|
0.00001
|
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys)
|
rs727503312
|
0.00001
|
NM_016239.4(MYO15A):c.6612C>T (p.Arg2204=)
|
rs752560714
|
0.00001
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
NM_016239.4(MYO15A):c.6654G>A (p.Glu2218=)
|
rs1219864079
|
0.00001
|
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=)
|
rs558947304
|
0.00001
|
NM_016239.4(MYO15A):c.6691+6dup
|
rs876657526
|
0.00001
|
NM_016239.4(MYO15A):c.6765-15G>A
|
rs1350435513
|
0.00001
|
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser)
|
rs375459945
|
0.00001
|
NM_016239.4(MYO15A):c.6956+1G>A
|
rs1465311328
|
0.00001
|
NM_016239.4(MYO15A):c.6956+9C>G
|
rs1482709090
|
0.00001
|
NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter)
|
rs1169954783
|
0.00001
|
NM_016239.4(MYO15A):c.7118-12C>T
|
rs561546411
|
0.00001
|
NM_016239.4(MYO15A):c.7197G>A (p.Leu2399=)
|
rs981596520
|
0.00001
|
NM_016239.4(MYO15A):c.723C>T (p.Asp241=)
|
rs753964516
|
0.00001
|
NM_016239.4(MYO15A):c.7245C>T (p.Arg2415=)
|
rs772535631
|
0.00001
|
NM_016239.4(MYO15A):c.7267G>A (p.Gly2423Ser)
|
rs530783345
|
0.00001
|
NM_016239.4(MYO15A):c.7327+11C>T
|
rs1054722969
|
0.00001
|
NM_016239.4(MYO15A):c.7386C>T (p.Ala2462=)
|
rs568637767
|
0.00001
|
NM_016239.4(MYO15A):c.7396-1G>A
|
rs760461823
|
0.00001
|
NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg)
|
rs756565842
|
0.00001
|
NM_016239.4(MYO15A):c.7654+1G>C
|
rs1338603862
|
0.00001
|
NM_016239.4(MYO15A):c.7685C>T (p.Ser2562Phe)
|
rs876657904
|
0.00001
|
NM_016239.4(MYO15A):c.768G>A (p.Glu256=)
|
rs771466440
|
0.00001
|
NM_016239.4(MYO15A):c.7758G>A (p.Pro2586=)
|
rs566210647
|
0.00001
|
NM_016239.4(MYO15A):c.7782C>A (p.Ala2594=)
|
rs756119154
|
0.00001
|
NM_016239.4(MYO15A):c.7871T>A (p.Leu2624Gln)
|
rs1210288586
|
0.00001
|
NM_016239.4(MYO15A):c.7893+10G>A
|
rs373557101
|
0.00001
|
NM_016239.4(MYO15A):c.7893+14G>A
|
rs727503317
|
0.00001
|
NM_016239.4(MYO15A):c.7893+1G>A
|
rs727503316
|
0.00001
|
NM_016239.4(MYO15A):c.7990C>A (p.Pro2664Thr)
|
rs577657134
|
0.00001
|
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs)
|
rs1221876133
|
0.00001
|
NM_016239.4(MYO15A):c.8019del (p.His2674fs)
|
rs1182951086
|
0.00001
|
NM_016239.4(MYO15A):c.8061C>A (p.Ala2687=)
|
rs200130551
|
0.00001
|
NM_016239.4(MYO15A):c.8065del (p.Trp2689fs)
|
rs755180092
|
0.00001
|
NM_016239.4(MYO15A):c.8077C>T (p.Leu2693=)
|
rs542922625
|
0.00001
|
NM_016239.4(MYO15A):c.8113A>C (p.Ser2705Arg)
|
rs776320800
|
0.00001
|
NM_016239.4(MYO15A):c.8224+7C>T
|
rs764654985
|
0.00001
|
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His)
|
rs773476384
|
0.00001
|
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=)
|
rs878853228
|
0.00001
|
NM_016239.4(MYO15A):c.8354C>G (p.Thr2785Ser)
|
rs774679988
|
0.00001
|
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala)
|
rs983107737
|
0.00001
|
NM_016239.4(MYO15A):c.8460-14G>A
|
rs763859274
|
0.00001
|
NM_016239.4(MYO15A):c.8548C>T (p.Arg2850Ter)
|
rs548514957
|
0.00001
|
NM_016239.4(MYO15A):c.8613C>T (p.Tyr2871=)
|
rs548822110
|
0.00001
|
NM_016239.4(MYO15A):c.8644G>A (p.Asp2882Asn)
|
rs752873001
|
0.00001
|
NM_016239.4(MYO15A):c.8892C>T (p.Gly2964=)
|
rs756004991
|
0.00001
|
NM_016239.4(MYO15A):c.8928C>G (p.Ala2976=)
|
rs2046705692
|
0.00001
|
NM_016239.4(MYO15A):c.8937C>T (p.Ala2979=)
|
rs770181603
|
0.00001
|
NM_016239.4(MYO15A):c.8968-1G>T
|
rs746051220
|
0.00001
|
NM_016239.4(MYO15A):c.9180C>T (p.Ile3060=)
|
rs968105343
|
0.00001
|
NM_016239.4(MYO15A):c.9542A>G (p.Asn3181Ser)
|
rs2046792872
|
0.00001
|
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs)
|
rs757070287
|
0.00001
|
NM_016239.4(MYO15A):c.9815G>A (p.Arg3272His)
|
rs199866618
|
0.00001
|
NM_016239.4(MYO15A):c.9823A>G (p.Ile3275Val)
|
rs1253874642
|
0.00001
|
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)
|
rs759523751
|
0.00001
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016239.4(MYO15A):c.10003A>G (p.Ser3335Gly)
|
|
|
NM_016239.4(MYO15A):c.10005C>T (p.Ser3335=)
|
|
|
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys)
|
|
|
NM_016239.4(MYO15A):c.10035G>A (p.Leu3345=)
|
|
|
NM_016239.4(MYO15A):c.10044G>T (p.Leu3348=)
|
|
|
NM_016239.4(MYO15A):c.10047G>A (p.Gln3349=)
|
|
|
NM_016239.4(MYO15A):c.10050T>C (p.His3350=)
|
|
|
NM_016239.4(MYO15A):c.10065C>T (p.His3355=)
|
|
|
NM_016239.4(MYO15A):c.10071C>T (p.Tyr3357=)
|
|
|
NM_016239.4(MYO15A):c.10072C>T (p.Leu3358=)
|
|
|
NM_016239.4(MYO15A):c.10082+15T>C
|
|
|
NM_016239.4(MYO15A):c.10082+16C>T
|
|
|
NM_016239.4(MYO15A):c.10083-10C>G
|
|
|
NM_016239.4(MYO15A):c.10083-12C>T
|
|
|
NM_016239.4(MYO15A):c.10083-15T>A
|
|
|
NM_016239.4(MYO15A):c.10083-16C>T
|
|
|
NM_016239.4(MYO15A):c.10083-17C>T
|
|
|
NM_016239.4(MYO15A):c.10083-19C>T
|
|
|
NM_016239.4(MYO15A):c.10083-9C>T
|
|
|
NM_016239.4(MYO15A):c.10089del (p.Val3364fs)
|
|
|
NM_016239.4(MYO15A):c.1008G>T (p.Ala336=)
|
|
|
NM_016239.4(MYO15A):c.10100A>G (p.Tyr3367Cys)
|
|
|
NM_016239.4(MYO15A):c.1011C>T (p.His337=)
|
|
|
NM_016239.4(MYO15A):c.10127C>T (p.Thr3376Met)
|
|
|
NM_016239.4(MYO15A):c.10137G>A (p.Ser3379=)
|
|
|
NM_016239.4(MYO15A):c.10137G>C (p.Ser3379=)
|
|
|
NM_016239.4(MYO15A):c.10146C>T (p.Leu3382=)
|
rs771349900
|
|
NM_016239.4(MYO15A):c.10149C>T (p.Asn3383=)
|
|
|
NM_016239.4(MYO15A):c.10150C>T (p.Leu3384=)
|
|
|
NM_016239.4(MYO15A):c.10152G>A (p.Leu3384=)
|
|
|
NM_016239.4(MYO15A):c.10161G>A (p.Gln3387=)
|
|
|
NM_016239.4(MYO15A):c.10185C>G (p.Leu3395=)
|
|
|
NM_016239.4(MYO15A):c.10192C>T (p.His3398Tyr)
|
|
|
NM_016239.4(MYO15A):c.10200C>T (p.Ala3400=)
|
|
|
NM_016239.4(MYO15A):c.10213C>T (p.Leu3405=)
|
|
|
NM_016239.4(MYO15A):c.10216+14G>A
|
|
|
NM_016239.4(MYO15A):c.10217-14C>T
|
|
|
NM_016239.4(MYO15A):c.10217-14del
|
|
|
NM_016239.4(MYO15A):c.10217-17C>A
|
|
|
NM_016239.4(MYO15A):c.10217-18C>T
|
|
|
NM_016239.4(MYO15A):c.10228G>C (p.Ala3410Pro)
|
rs755643067
|
|
NM_016239.4(MYO15A):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_016239.4(MYO15A):c.10230C>T (p.Ala3410=)
|
|
|
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)
|
rs760069953
|
|
NM_016239.4(MYO15A):c.1024T>C (p.Tyr342His)
|
rs1347711107
|
|
NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del)
|
rs1174503300
|
|
NM_016239.4(MYO15A):c.10253T>C (p.Phe3418Ser)
|
rs755139806
|
|
NM_016239.4(MYO15A):c.10263C>A (p.Ile3421=)
|
|
|
NM_016239.4(MYO15A):c.10272C>T (p.Cys3424=)
|
|
|
NM_016239.4(MYO15A):c.10284T>C (p.Ala3428=)
|
|
|
NM_016239.4(MYO15A):c.10293C>T (p.Ala3431=)
|
|
|
NM_016239.4(MYO15A):c.10324del (p.Leu3442fs)
|
rs1251608221
|
|
NM_016239.4(MYO15A):c.10326C>T (p.Leu3442=)
|
|
|
NM_016239.4(MYO15A):c.10350+13A>C
|
|
|
NM_016239.4(MYO15A):c.10350+19G>A
|
|
|
NM_016239.4(MYO15A):c.10350+19G>T
|
|
|
NM_016239.4(MYO15A):c.10350+20C>T
|
|
|
NM_016239.4(MYO15A):c.10350+8G>C
|
|
|
NM_016239.4(MYO15A):c.10351-15T>G
|
|
|
NM_016239.4(MYO15A):c.10351-15dup
|
|
|
NM_016239.4(MYO15A):c.10351-16C>T
|
|
|
NM_016239.4(MYO15A):c.10354T>C (p.Leu3452=)
|
|
|
NM_016239.4(MYO15A):c.10360G>T (p.Val3454Leu)
|
|
|
NM_016239.4(MYO15A):c.10372del (p.Pro3457_Leu3458insTer)
|
|
|
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs)
|
rs1310479415
|
|
NM_016239.4(MYO15A):c.10382T>A (p.Ile3461Asn)
|
|
|
NM_016239.4(MYO15A):c.10389G>A (p.Ser3463=)
|
|
|
NM_016239.4(MYO15A):c.10392G>A (p.Thr3464=)
|
|
|
NM_016239.4(MYO15A):c.10395G>C (p.Arg3465=)
|
|
|
NM_016239.4(MYO15A):c.10402C>T (p.Arg3468Trp)
|
|
|
NM_016239.4(MYO15A):c.10404G>T (p.Arg3468=)
|
|
|
NM_016239.4(MYO15A):c.10408A>C (p.Thr3470Pro)
|
|
|
NM_016239.4(MYO15A):c.10410G>A (p.Thr3470=)
|
|
|
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs)
|
rs2142436425
|
|
NM_016239.4(MYO15A):c.10437G>A (p.Glu3479=)
|
|
|
NM_016239.4(MYO15A):c.1043C>A (p.Pro348Gln)
|
rs202142174
|
|
NM_016239.4(MYO15A):c.10445T>G (p.Leu3482Arg)
|
|
|
NM_016239.4(MYO15A):c.1044G>A (p.Pro348=)
|
|
|
NM_016239.4(MYO15A):c.10452C>T (p.Asp3484=)
|
|
|
NM_016239.4(MYO15A):c.10458G>A (p.Ala3486=)
|
|
|
NM_016239.4(MYO15A):c.10467C>A (p.Arg3489=)
|
|
|
NM_016239.4(MYO15A):c.10491+11C>G
|
|
|
NM_016239.4(MYO15A):c.10491+12G>A
|
|
|
NM_016239.4(MYO15A):c.10491+9A>G
|
|
|
NM_016239.4(MYO15A):c.10492-11G>A
|
|
|
NM_016239.4(MYO15A):c.10492-16T>C
|
|
|
NM_016239.4(MYO15A):c.10492-9C>T
|
|
|
NM_016239.4(MYO15A):c.104G>C (p.Arg35Pro)
|
rs765495851
|
|
NM_016239.4(MYO15A):c.10518C>G (p.Ala3506=)
|
|
|
NM_016239.4(MYO15A):c.10518C>T (p.Ala3506=)
|
|
|
NM_016239.4(MYO15A):c.10524C>T (p.His3508=)
|
|
|
NM_016239.4(MYO15A):c.1053G>A (p.Ala351=)
|
|
|
NM_016239.4(MYO15A):c.10542T>C (p.Ser3514=)
|
|
|
NM_016239.4(MYO15A):c.10554G>A (p.Lys3518=)
|
|
|
NM_016239.4(MYO15A):c.10556G>A (p.Arg3519Gln)
|
rs374002949
|
|
NM_016239.4(MYO15A):c.1056A>G (p.Pro352=)
|
|
|
NM_016239.4(MYO15A):c.10575C>G (p.Ser3525Arg)
|
rs201070092
|
|
NM_016239.4(MYO15A):c.10575C>T (p.Ser3525=)
|
|
|
NM_016239.4(MYO15A):c.1071C>T (p.Asp357=)
|
|
|
NM_016239.4(MYO15A):c.1089C>T (p.Pro363=)
|
|
|
NM_016239.4(MYO15A):c.108G>C (p.Leu36=)
|
|
|
NM_016239.4(MYO15A):c.1092C>T (p.Tyr364=)
|
|
|
NM_016239.4(MYO15A):c.1117G>C (p.Gly373Arg)
|
|
|
NM_016239.4(MYO15A):c.1119A>G (p.Gly373=)
|
|
|
NM_016239.4(MYO15A):c.1119A>T (p.Gly373=)
|
|
|
NM_016239.4(MYO15A):c.112A>C (p.Met38Leu)
|
rs1359300875
|
|
NM_016239.4(MYO15A):c.1131C>G (p.Thr377=)
|
|
|
NM_016239.4(MYO15A):c.1131C>T (p.Thr377=)
|
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_016239.4(MYO15A):c.1138T>C (p.Tyr380His)
|
|
|
NM_016239.4(MYO15A):c.1143C>T (p.Ala381=)
|
|
|
NM_016239.4(MYO15A):c.1149C>T (p.Gly383=)
|
rs746937331
|
|
NM_016239.4(MYO15A):c.1164G>A (p.Gly388=)
|
|
|
NM_016239.4(MYO15A):c.1167C>A (p.Asp389Glu)
|
|
|
NM_016239.4(MYO15A):c.1168G>T (p.Glu390Ter)
|
rs762537238
|
|
NM_016239.4(MYO15A):c.117C>A (p.Gly39=)
|
rs2142235910
|
|
NM_016239.4(MYO15A):c.1185C>T (p.Pro395=)
|
|
|
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs)
|
rs772536599
|
|
NM_016239.4(MYO15A):c.1188G>A (p.Glu396=)
|
|
|
NM_016239.4(MYO15A):c.1191G>A (p.Val397=)
|
|
|
NM_016239.4(MYO15A):c.1194C>T (p.Pro398=)
|
|
|
NM_016239.4(MYO15A):c.1195T>C (p.Tyr399His)
|
|
|
NM_016239.4(MYO15A):c.120C>T (p.Phe40=)
|
|
|
NM_016239.4(MYO15A):c.1215G>A (p.Ser405=)
|
|
|
NM_016239.4(MYO15A):c.1218T>C (p.Ala406=)
|
|
|
NM_016239.4(MYO15A):c.121del (p.Arg41fs)
|
|
|
NM_016239.4(MYO15A):c.1221G>A (p.Ser407=)
|
|
|
NM_016239.4(MYO15A):c.1230G>A (p.Val410=)
|
|
|
NM_016239.4(MYO15A):c.1238G>A (p.Trp413Ter)
|
|
|
NM_016239.4(MYO15A):c.123C>T (p.Arg41=)
|
|
|
NM_016239.4(MYO15A):c.1248G>A (p.Pro416=)
|
|
|
NM_016239.4(MYO15A):c.1251C>T (p.Pro417=)
|
|
|
NM_016239.4(MYO15A):c.1257G>A (p.Pro419=)
|
|
|
NM_016239.4(MYO15A):c.1257G>C (p.Pro419=)
|
|
|
NM_016239.4(MYO15A):c.1260G>T (p.Ser420=)
|
|
|
NM_016239.4(MYO15A):c.1275T>C (p.Tyr425=)
|
|
|
NM_016239.4(MYO15A):c.1284C>A (p.Ala428=)
|
|
|
NM_016239.4(MYO15A):c.1296C>T (p.Ile432=)
|
|
|
NM_016239.4(MYO15A):c.1299C>G (p.Ala433=)
|
|
|
NM_016239.4(MYO15A):c.1299C>T (p.Ala433=)
|
|
|
NM_016239.4(MYO15A):c.1305G>A (p.Leu435=)
|
|
|
NM_016239.4(MYO15A):c.1318del (p.Asp440fs)
|
|
|
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=)
|
rs376905344
|
|
NM_016239.4(MYO15A):c.1323G>C (p.Ala441=)
|
|
|
NM_016239.4(MYO15A):c.1341G>A (p.Gly447=)
|
|
|
NM_016239.4(MYO15A):c.1341G>C (p.Gly447=)
|
|
|
NM_016239.4(MYO15A):c.1344C>G (p.Thr448=)
|
|
|
NM_016239.4(MYO15A):c.1347C>G (p.Ser449=)
|
|
|
NM_016239.4(MYO15A):c.1362C>T (p.Ser454=)
|
|
|
NM_016239.4(MYO15A):c.1374C>T (p.Phe458=)
|
|
|
NM_016239.4(MYO15A):c.1386C>T (p.Gly462=)
|
|
|
NM_016239.4(MYO15A):c.1398C>G (p.Pro466=)
|
rs1369228093
|
|
NM_016239.4(MYO15A):c.1401C>T (p.Ala467=)
|
|
|
NM_016239.4(MYO15A):c.1404G>A (p.Arg468=)
|
|
|
NM_016239.4(MYO15A):c.1419C>G (p.Leu473=)
|
|
|
NM_016239.4(MYO15A):c.141C>A (p.Ile47=)
|
|
|
NM_016239.4(MYO15A):c.1423C>T (p.Arg475Cys)
|
rs2142246407
|
|
NM_016239.4(MYO15A):c.1443G>A (p.Pro481=)
|
|
|
NM_016239.4(MYO15A):c.1444C>T (p.Arg482Ter)
|
|
|
NM_016239.4(MYO15A):c.1449C>G (p.Pro483=)
|
|
|
NM_016239.4(MYO15A):c.1451del (p.Gln484fs)
|
|
|
NM_016239.4(MYO15A):c.1464T>C (p.Phe488=)
|
rs749828028
|
|
NM_016239.4(MYO15A):c.1467G>A (p.Gly489=)
|
rs2045888411
|
|
NM_016239.4(MYO15A):c.1467G>C (p.Gly489=)
|
|
|
NM_016239.4(MYO15A):c.1500T>C (p.Ser500=)
|
|
|
NM_016239.4(MYO15A):c.1504dup (p.Asp502fs)
|
|
|
NM_016239.4(MYO15A):c.1518C>T (p.Pro506=)
|
|
|
NM_016239.4(MYO15A):c.1524G>A (p.Gly508=)
|
|
|
NM_016239.4(MYO15A):c.1527T>C (p.Asp509=)
|
|
|
NM_016239.4(MYO15A):c.1540G>A (p.Glu514Lys)
|
|
|
NM_016239.4(MYO15A):c.1561C>T (p.Pro521Ser)
|
|
|
NM_016239.4(MYO15A):c.1562del (p.Pro521fs)
|
|
|
NM_016239.4(MYO15A):c.1564del (p.Val522fs)
|
|
|
NM_016239.4(MYO15A):c.1578_1585del (p.Tyr527fs)
|
|
|
NM_016239.4(MYO15A):c.1581C>T (p.Tyr527=)
|
|
|
NM_016239.4(MYO15A):c.1587C>T (p.His529=)
|
|
|
NM_016239.4(MYO15A):c.1603del (p.Leu535fs)
|
rs762110822
|
|
NM_016239.4(MYO15A):c.1605C>T (p.Leu535=)
|
|
|
NM_016239.4(MYO15A):c.160C>T (p.Arg54Cys)
|
|
|
NM_016239.4(MYO15A):c.1611G>A (p.Pro537=)
|
|
|
NM_016239.4(MYO15A):c.1619G>A (p.Arg540His)
|
|
|
NM_016239.4(MYO15A):c.1623C>T (p.Asn541=)
|
|
|
NM_016239.4(MYO15A):c.1629G>A (p.Gln543=)
|
|
|
NM_016239.4(MYO15A):c.1630C>T (p.Arg544Cys)
|
|
|
NM_016239.4(MYO15A):c.1631G>A (p.Arg544His)
|
|
|
NM_016239.4(MYO15A):c.1632C>A (p.Arg544=)
|
|
|
NM_016239.4(MYO15A):c.1647C>T (p.Phe549=)
|
|
|
NM_016239.4(MYO15A):c.1650C>T (p.Gly550=)
|
|
|
NM_016239.4(MYO15A):c.1657C>A (p.Arg553=)
|
|
|
NM_016239.4(MYO15A):c.165C>T (p.Ser55=)
|
rs369442352
|
|
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs)
|
rs1245338270
|
|
NM_016239.4(MYO15A):c.1668C>T (p.Gly556=)
|
|
|
NM_016239.4(MYO15A):c.1671C>T (p.Phe557=)
|
|
|
NM_016239.4(MYO15A):c.1676C>T (p.Pro559Leu)
|
|
|
NM_016239.4(MYO15A):c.1692C>G (p.Pro564=)
|
|
|
NM_016239.4(MYO15A):c.1692C>T (p.Pro564=)
|
|
|
NM_016239.4(MYO15A):c.1693G>A (p.Val565Met)
|
|
|
NM_016239.4(MYO15A):c.1704T>C (p.Pro568=)
|
|
|
NM_016239.4(MYO15A):c.170C>A (p.Ser57Ter)
|
|
|
NM_016239.4(MYO15A):c.1713G>A (p.Ser571=)
|
|
|
NM_016239.4(MYO15A):c.1719G>A (p.Ala573=)
|
|
|
NM_016239.4(MYO15A):c.172del (p.Ala58fs)
|
|
|
NM_016239.4(MYO15A):c.1737G>A (p.Thr579=)
|
|
|
NM_016239.4(MYO15A):c.1737G>C (p.Thr579=)
|
|
|
NM_016239.4(MYO15A):c.1743G>C (p.Ser581=)
|
|
|
NM_016239.4(MYO15A):c.1758C>T (p.Ile586=)
|
|
|
NM_016239.4(MYO15A):c.175T>A (p.Phe59Ile)
|
rs933253559
|
|
NM_016239.4(MYO15A):c.1781A>C (p.Lys594Thr)
|
|
|
NM_016239.4(MYO15A):c.1791G>C (p.Ala597=)
|
|
|
NM_016239.4(MYO15A):c.1794C>A (p.Gly598=)
|
|
|
NM_016239.4(MYO15A):c.1797C>T (p.Gly599=)
|
|
|
NM_016239.4(MYO15A):c.1806C>G (p.Val602=)
|
|
|
NM_016239.4(MYO15A):c.1809G>A (p.Arg603=)
|
|
|
NM_016239.4(MYO15A):c.1813G>A (p.Ala605Thr)
|
|
|
NM_016239.4(MYO15A):c.1815G>A (p.Ala605=)
|
|
|
NM_016239.4(MYO15A):c.1830C>T (p.Phe610=)
|
|
|
NM_016239.4(MYO15A):c.1836C>T (p.Tyr612=)
|
|
|
NM_016239.4(MYO15A):c.1845T>C (p.Ala615=)
|
|
|
NM_016239.4(MYO15A):c.1856C>G (p.Pro619Arg)
|
|
|
NM_016239.4(MYO15A):c.1857C>A (p.Pro619=)
|
|
|
NM_016239.4(MYO15A):c.1857C>G (p.Pro619=)
|
|
|
NM_016239.4(MYO15A):c.1857C>T (p.Pro619=)
|
|
|
NM_016239.4(MYO15A):c.185G>A (p.Gly62Asp)
|
|
|
NM_016239.4(MYO15A):c.1863G>A (p.Lys621=)
|
rs760308017
|
|
NM_016239.4(MYO15A):c.1866C>T (p.Pro622=)
|
|
|
NM_016239.4(MYO15A):c.1867G>A (p.Gly623Ser)
|
|
|
NM_016239.4(MYO15A):c.186C>A (p.Gly62=)
|
|
|
NM_016239.4(MYO15A):c.1872G>A (p.Thr624=)
|
|
|
NM_016239.4(MYO15A):c.1875C>G (p.Pro625=)
|
rs1416041831
|
|
NM_016239.4(MYO15A):c.1878C>T (p.Ile626=)
|
|
|
NM_016239.4(MYO15A):c.1884G>A (p.Leu628=)
|
|
|
NM_016239.4(MYO15A):c.1887G>C (p.Arg629Ser)
|
|
|
NM_016239.4(MYO15A):c.1888A>G (p.Arg630Gly)
|
|
|
NM_016239.4(MYO15A):c.1911C>T (p.Ser637=)
|
|
|
NM_016239.4(MYO15A):c.1923G>A (p.Ala641=)
|
|
|
NM_016239.4(MYO15A):c.1931C>A (p.Pro644Gln)
|
|
|
NM_016239.4(MYO15A):c.1932G>A (p.Pro644=)
|
|
|
NM_016239.4(MYO15A):c.1935C>A (p.Pro645=)
|
|
|
NM_016239.4(MYO15A):c.1935C>T (p.Pro645=)
|
|
|
NM_016239.4(MYO15A):c.1938G>A (p.Ala646=)
|
|
|
NM_016239.4(MYO15A):c.1941A>G (p.Pro647=)
|
|
|
NM_016239.4(MYO15A):c.1947C>T (p.Pro649=)
|
|
|
NM_016239.4(MYO15A):c.1950G>A (p.Ala650=)
|
|
|
NM_016239.4(MYO15A):c.195C>T (p.Thr65=)
|
|
|
NM_016239.4(MYO15A):c.1965C>G (p.Ser655=)
|
|
|
NM_016239.4(MYO15A):c.1973G>A (p.Ser658Asn)
|
|
|
NM_016239.4(MYO15A):c.1974C>T (p.Ser658=)
|
|
|
NM_016239.4(MYO15A):c.1977G>A (p.Ala659=)
|
|
|
NM_016239.4(MYO15A):c.1983G>C (p.Leu661=)
|
|
|
NM_016239.4(MYO15A):c.1990C>A (p.Pro664Thr)
|
rs1252529896
|
|
NM_016239.4(MYO15A):c.1992C>T (p.Pro664=)
|
|
|
NM_016239.4(MYO15A):c.1995G>A (p.Val665=)
|
|
|
NM_016239.4(MYO15A):c.2007C>A (p.Pro669=)
|
|
|
NM_016239.4(MYO15A):c.2007C>G (p.Pro669=)
|
|
|
NM_016239.4(MYO15A):c.2013C>T (p.Ser671=)
|
rs1597754343
|
|
NM_016239.4(MYO15A):c.2014T>C (p.Ser672Pro)
|
rs973362601
|
|
NM_016239.4(MYO15A):c.2016C>T (p.Ser672=)
|
|
|
NM_016239.4(MYO15A):c.2024C>G (p.Pro675Arg)
|
|
|
NM_016239.4(MYO15A):c.2028C>T (p.Pro676=)
|
|
|
NM_016239.4(MYO15A):c.202dup (p.Gln68fs)
|
|
|
NM_016239.4(MYO15A):c.2031G>A (p.Ala677=)
|
|
|
NM_016239.4(MYO15A):c.2033C>T (p.Pro678Leu)
|
|
|
NM_016239.4(MYO15A):c.2037G>A (p.Pro679=)
|
|
|
NM_016239.4(MYO15A):c.2045del (p.Pro682fs)
|
|
|
NM_016239.4(MYO15A):c.2046G>A (p.Pro682=)
|
|
|
NM_016239.4(MYO15A):c.2046G>C (p.Pro682=)
|
|
|
NM_016239.4(MYO15A):c.2049G>T (p.Ala683=)
|
|
|
NM_016239.4(MYO15A):c.204G>A (p.Gln68=)
|
|
|
NM_016239.4(MYO15A):c.2052C>A (p.Leu684=)
|
|
|
NM_016239.4(MYO15A):c.2054C>A (p.Ser685Ter)
|
|
|
NM_016239.4(MYO15A):c.2054dup (p.Leu687fs)
|
|
|
NM_016239.4(MYO15A):c.2055G>A (p.Ser685=)
|
|
|
NM_016239.4(MYO15A):c.2070G>A (p.Pro690=)
|
|
|
NM_016239.4(MYO15A):c.2070G>C (p.Pro690=)
|
rs761069955
|
|
NM_016239.4(MYO15A):c.2073C>T (p.Ala691=)
|
|
|
NM_016239.4(MYO15A):c.2082C>T (p.Tyr694=)
|
|
|
NM_016239.4(MYO15A):c.2088C>T (p.Ser696=)
|
|
|
NM_016239.4(MYO15A):c.2091C>A (p.Leu697=)
|
|
|
NM_016239.4(MYO15A):c.2091C>T (p.Leu697=)
|
|
|
NM_016239.4(MYO15A):c.2099A>C (p.His700Pro)
|
|
|
NM_016239.4(MYO15A):c.2099_2105dup (p.Trp704fs)
|
|
|
NM_016239.4(MYO15A):c.2099_2108del (p.His700fs)
|
|
|
NM_016239.4(MYO15A):c.2103G>A (p.Pro701=)
|
|
|
NM_016239.4(MYO15A):c.2117_2573del (p.Ala706fs)
|
|
|
NM_016239.4(MYO15A):c.2122G>C (p.Ala708Pro)
|
|
|
NM_016239.4(MYO15A):c.2124G>T (p.Ala708=)
|
|
|
NM_016239.4(MYO15A):c.2142G>A (p.Pro714=)
|
|
|
NM_016239.4(MYO15A):c.2145G>A (p.Gln715=)
|
|
|
NM_016239.4(MYO15A):c.2154G>A (p.Trp718Ter)
|
|
|
NM_016239.4(MYO15A):c.2166G>C (p.Val722=)
|
|
|
NM_016239.4(MYO15A):c.2169G>A (p.Glu723=)
|
|
|
NM_016239.4(MYO15A):c.216C>T (p.Arg72=)
|
|
|
NM_016239.4(MYO15A):c.2179G>C (p.Val727Leu)
|
|
|
NM_016239.4(MYO15A):c.2187G>A (p.Pro729=)
|
|
|
NM_016239.4(MYO15A):c.2187G>T (p.Pro729=)
|
|
|
NM_016239.4(MYO15A):c.21G>A (p.Glu7=)
|
|
|
NM_016239.4(MYO15A):c.2205A>G (p.Leu735=)
|
|
|
NM_016239.4(MYO15A):c.2205_2212del (p.Leu736fs)
|
|
|
NM_016239.4(MYO15A):c.2222C>T (p.Pro741Leu)
|
|
|
NM_016239.4(MYO15A):c.2224C>T (p.Arg742Ter)
|
|
|
NM_016239.4(MYO15A):c.2232G>A (p.Ser744=)
|
|
|
NM_016239.4(MYO15A):c.2244C>T (p.Ser748=)
|
|
|
NM_016239.4(MYO15A):c.2253A>G (p.Arg751=)
|
|
|
NM_016239.4(MYO15A):c.2257G>A (p.Ala753Thr)
|
|
|
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro)
|
rs776096881
|
|
NM_016239.4(MYO15A):c.2259G>T (p.Ala753=)
|
rs886052670
|
|
NM_016239.4(MYO15A):c.2274C>G (p.Pro758=)
|
|
|
NM_016239.4(MYO15A):c.2274C>T (p.Pro758=)
|
|
|
NM_016239.4(MYO15A):c.2280C>T (p.Ala760=)
|
|
|
NM_016239.4(MYO15A):c.2298G>T (p.Arg766=)
|
|
|
NM_016239.4(MYO15A):c.2301G>A (p.Arg767=)
|
|
|
NM_016239.4(MYO15A):c.2302C>A (p.Arg768=)
|
rs373561242
|
|
NM_016239.4(MYO15A):c.2315C>G (p.Pro772Arg)
|
|
|
NM_016239.4(MYO15A):c.2316G>A (p.Pro772=)
|
|
|
NM_016239.4(MYO15A):c.2325G>T (p.Ser775=)
|
|
|
NM_016239.4(MYO15A):c.2327C>A (p.Pro776His)
|
|
|
NM_016239.4(MYO15A):c.232dup (p.Thr78fs)
|
|
|
NM_016239.4(MYO15A):c.2334C>T (p.Pro778=)
|
|
|
NM_016239.4(MYO15A):c.2337G>A (p.Ser779=)
|
|
|
NM_016239.4(MYO15A):c.233C>A (p.Thr78Asn)
|
|
|
NM_016239.4(MYO15A):c.2340G>A (p.Leu780=)
|
|
|
NM_016239.4(MYO15A):c.2349G>A (p.Ser783=)
|
|
|
NM_016239.4(MYO15A):c.234C>A (p.Thr78=)
|
|
|
NM_016239.4(MYO15A):c.2352G>A (p.Pro784=)
|
|
|
NM_016239.4(MYO15A):c.2352G>C (p.Pro784=)
|
|
|
NM_016239.4(MYO15A):c.2352G>T (p.Pro784=)
|
|
|
NM_016239.4(MYO15A):c.2358C>G (p.Leu786=)
|
|
|
NM_016239.4(MYO15A):c.2358C>T (p.Leu786=)
|
|
|
NM_016239.4(MYO15A):c.2367C>A (p.Cys789Ter)
|
|
|
NM_016239.4(MYO15A):c.2368_2378del (p.Ser790fs)
|
rs2142254226
|
|
NM_016239.4(MYO15A):c.2374T>A (p.Leu792Met)
|
rs2142254274
|
|
NM_016239.4(MYO15A):c.2384del (p.Pro795fs)
|
|
|
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs)
|
rs1567624190
|
|
NM_016239.4(MYO15A):c.2395C>T (p.Leu799=)
|
|
|
NM_016239.4(MYO15A):c.23A>T (p.Glu8Val)
|
rs2142235361
|
|
NM_016239.4(MYO15A):c.2403G>A (p.Leu801=)
|
|
|
NM_016239.4(MYO15A):c.2406C>G (p.Arg802=)
|
|
|
NM_016239.4(MYO15A):c.2406C>T (p.Arg802=)
|
|
|
NM_016239.4(MYO15A):c.2408C>T (p.Thr803Met)
|
|
|
NM_016239.4(MYO15A):c.2409G>A (p.Thr803=)
|
|
|
NM_016239.4(MYO15A):c.2409G>C (p.Thr803=)
|
rs536053218
|
|
NM_016239.4(MYO15A):c.2409G>T (p.Thr803=)
|
|
|
NM_016239.4(MYO15A):c.240C>G (p.Leu80=)
|
|
|
NM_016239.4(MYO15A):c.2412C>T (p.Gly804=)
|
|
|
NM_016239.4(MYO15A):c.2422C>T (p.Pro808Ser)
|
|
|
NM_016239.4(MYO15A):c.2424G>A (p.Pro808=)
|
|
|
NM_016239.4(MYO15A):c.2424G>C (p.Pro808=)
|
|
|
NM_016239.4(MYO15A):c.2434C>T (p.Pro812Ser)
|
|
|
NM_016239.4(MYO15A):c.243G>A (p.Lys81=)
|
|
|
NM_016239.4(MYO15A):c.2444G>A (p.Arg815His)
|
|
|
NM_016239.4(MYO15A):c.2446del (p.Arg816fs)
|
|
|
NM_016239.4(MYO15A):c.2448G>A (p.Arg816=)
|
|
|
NM_016239.4(MYO15A):c.2453G>A (p.Arg818His)
|
|
|
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter)
|
rs767378045
|
|
NM_016239.4(MYO15A):c.2456C>G (p.Ser819Trp)
|
rs767378045
|
|
NM_016239.4(MYO15A):c.2461C>T (p.Gln821Ter)
|
|
|
NM_016239.4(MYO15A):c.2470C>G (p.Pro824Ala)
|
|
|
NM_016239.4(MYO15A):c.2471del (p.Pro824fs)
|
|
|
NM_016239.4(MYO15A):c.2475C>A (p.Ala825=)
|
|
|
NM_016239.4(MYO15A):c.2475C>G (p.Ala825=)
|
|
|
NM_016239.4(MYO15A):c.2475C>T (p.Ala825=)
|
|
|
NM_016239.4(MYO15A):c.2492_2520dup (p.Pro841fs)
|
|
|
NM_016239.4(MYO15A):c.2497C>T (p.Leu833=)
|
|
|
NM_016239.4(MYO15A):c.249G>A (p.Thr83=)
|
|
|
NM_016239.4(MYO15A):c.2502C>A (p.Gly834=)
|
|
|
NM_016239.4(MYO15A):c.2508C>T (p.Pro836=)
|
|
|
NM_016239.4(MYO15A):c.2509G>A (p.Gly837Ser)
|
rs1240128780
|
|
NM_016239.4(MYO15A):c.2513C>T (p.Ser838Leu)
|
|
|
NM_016239.4(MYO15A):c.2514G>C (p.Ser838=)
|
|
|
NM_016239.4(MYO15A):c.2523G>A (p.Pro841=)
|
|
|
NM_016239.4(MYO15A):c.2526C>A (p.Gly842=)
|
|
|
NM_016239.4(MYO15A):c.2535G>A (p.Arg845=)
|
|
|
NM_016239.4(MYO15A):c.2546C>T (p.Pro849Leu)
|
|
|
NM_016239.4(MYO15A):c.2551C>T (p.Leu851=)
|
|
|
NM_016239.4(MYO15A):c.2559C>A (p.Leu853=)
|
|
|
NM_016239.4(MYO15A):c.2588dup (p.Asn863fs)
|
|
|
NM_016239.4(MYO15A):c.2597C>G (p.Ser866Trp)
|
|
|
NM_016239.4(MYO15A):c.2601C>T (p.Arg867=)
|
|
|
NM_016239.4(MYO15A):c.2607G>A (p.Pro869=)
|
|
|
NM_016239.4(MYO15A):c.2610C>T (p.His870=)
|
|
|
NM_016239.4(MYO15A):c.2613G>A (p.Thr871=)
|
|
|
NM_016239.4(MYO15A):c.2615G>C (p.Trp872Ser)
|
|
|
NM_016239.4(MYO15A):c.2619G>T (p.Arg873=)
|
|
|
NM_016239.4(MYO15A):c.2628C>T (p.Ser876=)
|
|
|
NM_016239.4(MYO15A):c.2637C>G (p.Pro879=)
|
|
|
NM_016239.4(MYO15A):c.2637C>T (p.Pro879=)
|
|
|
NM_016239.4(MYO15A):c.2646T>C (p.Ala882=)
|
|
|
NM_016239.4(MYO15A):c.2655G>C (p.Pro885=)
|
|
|
NM_016239.4(MYO15A):c.265C>T (p.Gln89Ter)
|
|
|
NM_016239.4(MYO15A):c.2664C>G (p.Arg888=)
|
|
|
NM_016239.4(MYO15A):c.2681C>T (p.Pro894Leu)
|
|
|
NM_016239.4(MYO15A):c.2685C>G (p.Pro895=)
|
|
|
NM_016239.4(MYO15A):c.2691C>T (p.Ala897=)
|
|
|
NM_016239.4(MYO15A):c.2703G>A (p.Arg901=)
|
|
|
NM_016239.4(MYO15A):c.2706G>A (p.Ala902=)
|
|
|
NM_016239.4(MYO15A):c.2712G>A (p.Leu904=)
|
|
|
NM_016239.4(MYO15A):c.2721G>A (p.Arg907=)
|
|
|
NM_016239.4(MYO15A):c.2724G>A (p.Glu908=)
|
|
|
NM_016239.4(MYO15A):c.2730G>A (p.Pro910=)
|
|
|
NM_016239.4(MYO15A):c.2733A>G (p.Arg911=)
|
|
|
NM_016239.4(MYO15A):c.2739C>G (p.Pro913=)
|
|
|
NM_016239.4(MYO15A):c.2753C>T (p.Thr918Met)
|
|
|
NM_016239.4(MYO15A):c.2754G>A (p.Thr918=)
|
|
|
NM_016239.4(MYO15A):c.2766G>A (p.Val922=)
|
|
|
NM_016239.4(MYO15A):c.2778C>G (p.Ala926=)
|
|
|
NM_016239.4(MYO15A):c.2781C>T (p.Pro927=)
|
|
|
NM_016239.4(MYO15A):c.2781del (p.Ser928fs)
|
|
|
NM_016239.4(MYO15A):c.2791G>A (p.Val931Met)
|
|
|
NM_016239.4(MYO15A):c.2795A>G (p.Asp932Gly)
|
|
|
NM_016239.4(MYO15A):c.27G>A (p.Lys9=)
|
|
|
NM_016239.4(MYO15A):c.2802T>G (p.Pro934=)
|
|
|
NM_016239.4(MYO15A):c.2825C>T (p.Pro942Leu)
|
|
|
NM_016239.4(MYO15A):c.2826C>T (p.Pro942=)
|
|
|
NM_016239.4(MYO15A):c.2832A>G (p.Pro944=)
|
|
|
NM_016239.4(MYO15A):c.2838T>G (p.Gly946=)
|
|
|
NM_016239.4(MYO15A):c.2847C>T (p.Ser949=)
|
|
|
NM_016239.4(MYO15A):c.284dup (p.Lys96fs)
|
|
|
NM_016239.4(MYO15A):c.2851C>T (p.Arg951Ter)
|
|
|
NM_016239.4(MYO15A):c.2863A>G (p.Arg955Gly)
|
rs1198244884
|
|
NM_016239.4(MYO15A):c.2872C>G (p.Pro958Ala)
|
|
|
NM_016239.4(MYO15A):c.2874T>C (p.Pro958=)
|
|
|
NM_016239.4(MYO15A):c.2895C>A (p.Leu965=)
|
|
|
NM_016239.4(MYO15A):c.289del (p.Arg97fs)
|
|
|
NM_016239.4(MYO15A):c.28_31del (p.Lys10fs)
|
|
|
NM_016239.4(MYO15A):c.2902C>T (p.Leu968=)
|
|
|
NM_016239.4(MYO15A):c.2904G>C (p.Leu968=)
|
|
|
NM_016239.4(MYO15A):c.2907C>T (p.Gly969=)
|
|
|
NM_016239.4(MYO15A):c.2925C>T (p.Thr975=)
|
|
|
NM_016239.4(MYO15A):c.2937G>A (p.Glu979=)
|
|
|
NM_016239.4(MYO15A):c.2945del (p.Ala982fs)
|
|
|
NM_016239.4(MYO15A):c.2958C>T (p.Thr986=)
|
|
|
NM_016239.4(MYO15A):c.2963T>G (p.Val988Gly)
|
|
|
NM_016239.4(MYO15A):c.2985G>A (p.Glu995=)
|
|
|
NM_016239.4(MYO15A):c.2988G>A (p.Pro996=)
|
|
|
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs)
|
rs1162296750
|
|
NM_016239.4(MYO15A):c.3007A>C (p.Lys1003Gln)
|
rs112358285
|
|
NM_016239.4(MYO15A):c.300G>A (p.Lys100=)
|
|
|
NM_016239.4(MYO15A):c.3015T>A (p.Ala1005=)
|
|
|
NM_016239.4(MYO15A):c.3015T>C (p.Ala1005=)
|
|
|
NM_016239.4(MYO15A):c.3018C>T (p.Gly1006=)
|
|
|
NM_016239.4(MYO15A):c.3026del (p.Pro1009fs)
|
rs1555539827
|
|
NM_016239.4(MYO15A):c.3042A>G (p.Glu1014=)
|
|
|
NM_016239.4(MYO15A):c.3052C>T (p.Leu1018=)
|
|
|
NM_016239.4(MYO15A):c.3060C>T (p.Asp1020=)
|
|
|
NM_016239.4(MYO15A):c.3061C>T (p.Pro1021Ser)
|
|
|
NM_016239.4(MYO15A):c.3063C>A (p.Pro1021=)
|
|
|
NM_016239.4(MYO15A):c.3081C>G (p.Thr1027=)
|
|
|
NM_016239.4(MYO15A):c.3093C>T (p.Thr1031=)
|
|
|
NM_016239.4(MYO15A):c.3095del (p.Pro1032fs)
|
|
|
NM_016239.4(MYO15A):c.3096A>T (p.Pro1032=)
|
|
|
NM_016239.4(MYO15A):c.311C>T (p.Pro104Leu)
|
|
|
NM_016239.4(MYO15A):c.3120C>T (p.Pro1040=)
|
|
|
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His)
|
rs200587502
|
|
NM_016239.4(MYO15A):c.3123C>A (p.Pro1041=)
|
|
|
NM_016239.4(MYO15A):c.3123C>T (p.Pro1041=)
|
|
|
NM_016239.4(MYO15A):c.3129T>C (p.Asp1043=)
|
|
|
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup)
|
rs377177611
|
|
NM_016239.4(MYO15A):c.3140_3141del (p.Pro1047fs)
|
|
|
NM_016239.4(MYO15A):c.3141C>A (p.Pro1047=)
|
|
|
NM_016239.4(MYO15A):c.3141C>G (p.Pro1047=)
|
rs368611576
|
|
NM_016239.4(MYO15A):c.3141C>T (p.Pro1047=)
|
|
|
NM_016239.4(MYO15A):c.3150C>A (p.Val1050=)
|
|
|
NM_016239.4(MYO15A):c.3150C>T (p.Val1050=)
|
|
|
NM_016239.4(MYO15A):c.3156A>G (p.Pro1052=)
|
|
|
NM_016239.4(MYO15A):c.315C>G (p.Ser105=)
|
|
|
NM_016239.4(MYO15A):c.315C>T (p.Ser105=)
|
|
|
NM_016239.4(MYO15A):c.3171A>G (p.Leu1057=)
|
|
|
NM_016239.4(MYO15A):c.3186A>G (p.Ser1062=)
|
|
|
NM_016239.4(MYO15A):c.3193C>T (p.Leu1065=)
|
|
|
NM_016239.4(MYO15A):c.3207C>T (p.Asp1069=)
|
|
|
NM_016239.4(MYO15A):c.3237C>T (p.His1079=)
|
|
|
NM_016239.4(MYO15A):c.3239G>A (p.Arg1080His)
|
rs376630473
|
|
NM_016239.4(MYO15A):c.3240del (p.Trp1081fs)
|
|
|
NM_016239.4(MYO15A):c.3246A>G (p.Gly1082=)
|
|
|
NM_016239.4(MYO15A):c.3248del (p.Thr1083fs)
|
|
|
NM_016239.4(MYO15A):c.3267C>A (p.Ala1089=)
|
|
|
NM_016239.4(MYO15A):c.3276G>A (p.Ala1092=)
|
|
|
NM_016239.4(MYO15A):c.3306G>A (p.Lys1102=)
|
|
|
NM_016239.4(MYO15A):c.3308G>C (p.Gly1103Ala)
|
rs750304417
|
|
NM_016239.4(MYO15A):c.3308G>T (p.Gly1103Val)
|
|
|
NM_016239.4(MYO15A):c.3309G>A (p.Gly1103=)
|
|
|
NM_016239.4(MYO15A):c.330C>A (p.Arg110=)
|
|
|
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer)
|
rs794729637
|
|
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs)
|
rs769884586
|
|
NM_016239.4(MYO15A):c.3345T>C (p.Ala1115=)
|
|
|
NM_016239.4(MYO15A):c.3348G>A (p.Val1116=)
|
|
|
NM_016239.4(MYO15A):c.3351C>A (p.Val1117=)
|
|
|
NM_016239.4(MYO15A):c.3356del (p.Pro1119fs)
|
|
|
NM_016239.4(MYO15A):c.3358C>G (p.Arg1120Gly)
|
rs375451997
|
|
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys)
|
rs375451997
|
|
NM_016239.4(MYO15A):c.3364_3365insTTCT (p.Gln1122fs)
|
|
|
NM_016239.4(MYO15A):c.3375C>T (p.Ser1125=)
|
|
|
NM_016239.4(MYO15A):c.33C>G (p.Ala11=)
|
|
|
NM_016239.4(MYO15A):c.33C>T (p.Ala11=)
|
|
|
NM_016239.4(MYO15A):c.3411T>G (p.Pro1137=)
|
|
|
NM_016239.4(MYO15A):c.3418C>T (p.Gln1140Ter)
|
|
|
NM_016239.4(MYO15A):c.343_367dup (p.Arg123fs)
|
|
|
NM_016239.4(MYO15A):c.343dup (p.Arg115fs)
|
rs764251996
|
|
NM_016239.4(MYO15A):c.3458G>A (p.Arg1153His)
|
|
|
NM_016239.4(MYO15A):c.345T>C (p.Arg115=)
|
|
|
NM_016239.4(MYO15A):c.3479G>C (p.Arg1160Pro)
|
|
|
NM_016239.4(MYO15A):c.3492T>A (p.Tyr1164Ter)
|
|
|
NM_016239.4(MYO15A):c.3492T>C (p.Tyr1164=)
|
|
|
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del)
|
rs876657898
|
|
NM_016239.4(MYO15A):c.349_364del (p.Tyr117fs)
|
|
|
NM_016239.4(MYO15A):c.350_363del (p.Tyr117fs)
|
rs1366586397
|
|
NM_016239.4(MYO15A):c.3540C>T (p.Gly1180=)
|
|
|
NM_016239.4(MYO15A):c.3551C>A (p.Ala1184Asp)
|
rs368083374
|
|
NM_016239.4(MYO15A):c.3564T>C (p.Leu1188=)
|
|
|
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)
|
|
|
NM_016239.4(MYO15A):c.3582G>A (p.Glu1194=)
|
|
|
NM_016239.4(MYO15A):c.3590C>T (p.Pro1197Leu)
|
|
|
NM_016239.4(MYO15A):c.3609+19C>T
|
|
|
NM_016239.4(MYO15A):c.3609+6dup
|
|
|
NM_016239.4(MYO15A):c.3609+9G>A
|
|
|
NM_016239.4(MYO15A):c.3610-11C>G
|
|
|
NM_016239.4(MYO15A):c.3610-11C>T
|
|
|
NM_016239.4(MYO15A):c.3610-17CT[3]
|
|
|
NM_016239.4(MYO15A):c.3610-17CT[4]
|
|
|
NM_016239.4(MYO15A):c.3610-17CT[6]
|
|
|
NM_016239.4(MYO15A):c.3610-18C>G
|
|
|
NM_016239.4(MYO15A):c.3610-8T>A
|
|
|
NM_016239.4(MYO15A):c.3610-9C>G
|
|
|
NM_016239.4(MYO15A):c.3610-9C>T
|
|
|
NM_016239.4(MYO15A):c.3621C>T (p.Ile1207=)
|
|
|
NM_016239.4(MYO15A):c.3645C>T (p.Phe1215=)
|
|
|
NM_016239.4(MYO15A):c.3657C>T (p.His1219=)
|
|
|
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg)
|
rs146754758
|
|
NM_016239.4(MYO15A):c.3658G>C (p.Gly1220Arg)
|
rs146754758
|
|
NM_016239.4(MYO15A):c.3666T>C (p.Asp1222=)
|
|
|
NM_016239.4(MYO15A):c.3675G>A (p.Glu1225=)
|
|
|
NM_016239.4(MYO15A):c.3692+14G>T
|
|
|
NM_016239.4(MYO15A):c.3692+14del
|
|
|
NM_016239.4(MYO15A):c.3692+15C>T
|
|
|
NM_016239.4(MYO15A):c.3692+16C>T
|
|
|
NM_016239.4(MYO15A):c.3692+16del
|
|
|
NM_016239.4(MYO15A):c.3692+17G>A
|
|
|
NM_016239.4(MYO15A):c.3692+17G>T
|
|
|
NM_016239.4(MYO15A):c.3692+19C>T
|
|
|
NM_016239.4(MYO15A):c.3692+20G>A
|
|
|
NM_016239.4(MYO15A):c.3693-12G>C
|
|
|
NM_016239.4(MYO15A):c.3693-12G>T
|
|
|
NM_016239.4(MYO15A):c.3693-19T>C
|
|
|
NM_016239.4(MYO15A):c.369C>A (p.Arg123=)
|
|
|
NM_016239.4(MYO15A):c.370_371del (p.Ala124fs)
|
|
|
NM_016239.4(MYO15A):c.372C>A (p.Ala124=)
|
|
|
NM_016239.4(MYO15A):c.3735A>G (p.Arg1245=)
|
|
|
NM_016239.4(MYO15A):c.3742C>T (p.Arg1248Trp)
|
|
|
NM_016239.4(MYO15A):c.374G>A (p.Arg125Gln)
|
|
|
NM_016239.4(MYO15A):c.3750del (p.Ile1251fs)
|
|
|
NM_016239.4(MYO15A):c.3756+13G>A
|
|
|
NM_016239.4(MYO15A):c.3756+17G>C
|
|
|
NM_016239.4(MYO15A):c.3756+20_3756+52del
|
|
|
NM_016239.4(MYO15A):c.3756+6G>A
|
|
|
NM_016239.4(MYO15A):c.3756+9T>C
|
|
|
NM_016239.4(MYO15A):c.3757-14C>T
|
|
|
NM_016239.4(MYO15A):c.3757-8C>G
|
|
|
NM_016239.4(MYO15A):c.3759A>G (p.Thr1253=)
|
|
|
NM_016239.4(MYO15A):c.375G>A (p.Arg125=)
|
|
|
NM_016239.4(MYO15A):c.3761_3764dup (p.Gly1256fs)
|
|
|
NM_016239.4(MYO15A):c.3780G>A (p.Val1260=)
|
|
|
NM_016239.4(MYO15A):c.3783G>A (p.Ser1261=)
|
|
|
NM_016239.4(MYO15A):c.3819G>A (p.Pro1273=)
|
|
|
NM_016239.4(MYO15A):c.3836A>G (p.Tyr1279Cys)
|
rs2046042097
|
|
NM_016239.4(MYO15A):c.3840C>T (p.Asn1280=)
|
|
|
NM_016239.4(MYO15A):c.3846G>A (p.Arg1282=)
|
|
|
NM_016239.4(MYO15A):c.3848C>T (p.Ala1283Val)
|
rs2046042707
|
|
NM_016239.4(MYO15A):c.3850C>T (p.Leu1284=)
|
|
|
NM_016239.4(MYO15A):c.3864C>T (p.Pro1288=)
|
|
|
NM_016239.4(MYO15A):c.3866+11C>T
|
|
|
NM_016239.4(MYO15A):c.3866+12G>T
|
rs533500962
|
|
NM_016239.4(MYO15A):c.3866+16G>T
|
|
|
NM_016239.4(MYO15A):c.3866+17C>T
|
|
|
NM_016239.4(MYO15A):c.3866+1G>T
|
|
|
NM_016239.4(MYO15A):c.3866+9C>T
|
rs1354137091
|
|
NM_016239.4(MYO15A):c.3867-14A>T
|
|
|
NM_016239.4(MYO15A):c.3867-15G>A
|
|
|
NM_016239.4(MYO15A):c.3867-18A>G
|
|
|
NM_016239.4(MYO15A):c.3867-2A>C
|
|
|
NM_016239.4(MYO15A):c.3867-3del
|
|
|
NM_016239.4(MYO15A):c.3870C>T (p.His1290=)
|
rs1597769613
|
|
NM_016239.4(MYO15A):c.3881T>C (p.Val1294Ala)
|
|
|
NM_016239.4(MYO15A):c.3906G>A (p.Met1302Ile)
|
|
|
NM_016239.4(MYO15A):c.390G>A (p.Ala130=)
|
|
|
NM_016239.4(MYO15A):c.3912T>C (p.Asp1304=)
|
|
|
NM_016239.4(MYO15A):c.3921G>A (p.Gln1307=)
|
|
|
NM_016239.4(MYO15A):c.3941+14C>T
|
|
|
NM_016239.4(MYO15A):c.3941+19T>C
|
|
|
NM_016239.4(MYO15A):c.3941+20G>A
|
|
|
NM_016239.4(MYO15A):c.3941+20G>C
|
|
|
NM_016239.4(MYO15A):c.3941+20G>T
|
|
|
NM_016239.4(MYO15A):c.3941+8G>A
|
|
|
NM_016239.4(MYO15A):c.3941+9G>A
|
|
|
NM_016239.4(MYO15A):c.3942-12T>C
|
|
|
NM_016239.4(MYO15A):c.3942-5G>A
|
|
|
NM_016239.4(MYO15A):c.3942-6G>T
|
rs749417937
|
|
NM_016239.4(MYO15A):c.3942-8T>G
|
|
|
NM_016239.4(MYO15A):c.3942T>C (p.Ser1314=)
|
|
|
NM_016239.4(MYO15A):c.394A>C (p.Thr132Pro)
|
|
|
NM_016239.4(MYO15A):c.3951C>T (p.Ser1317=)
|
|
|
NM_016239.4(MYO15A):c.3969G>A (p.Glu1323=)
|
|
|
NM_016239.4(MYO15A):c.3993C>T (p.Tyr1331=)
|
|
|
NM_016239.4(MYO15A):c.4009C>T (p.Gln1337Ter)
|
|
|
NM_016239.4(MYO15A):c.4016G>T (p.Arg1339Leu)
|
rs368407094
|
|
NM_016239.4(MYO15A):c.4029G>A (p.Gln1343=)
|
|
|
NM_016239.4(MYO15A):c.4032+14T>C
|
|
|
NM_016239.4(MYO15A):c.4032+19C>T
|
|
|
NM_016239.4(MYO15A):c.4032+9_4032+12del
|
|
|
NM_016239.4(MYO15A):c.4033-10G>A
|
|
|
NM_016239.4(MYO15A):c.4033-11C>T
|
|
|
NM_016239.4(MYO15A):c.4033-17C>T
|
|
|
NM_016239.4(MYO15A):c.4033-20C>T
|
|
|
NM_016239.4(MYO15A):c.4038+17_4038+18insATGTGT
|
|
|
NM_016239.4(MYO15A):c.4038+18_4038+19insCG
|
|
|
NM_016239.4(MYO15A):c.4038+18_4038+19insCGTG
|
|
|
NM_016239.4(MYO15A):c.4038+20dup
|
|
|
NM_016239.4(MYO15A):c.4038+6_4038+7insG
|
|
|
NM_016239.4(MYO15A):c.4038+6_4038+7insTGTG
|
|
|
NM_016239.4(MYO15A):c.4038+6_4038+7insTGTGTG
|
|
|
NM_016239.4(MYO15A):c.4038+7_4038+18del
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[11]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[13]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[14]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[15]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[16]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[17]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[18]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[19]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[20]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[21]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[22]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[23]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[24]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[25]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[26]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[28]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[29]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[30]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[31]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[32]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[33]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[34]
|
rs59214589
|
|
NM_016239.4(MYO15A):c.4038+8GT[35]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[36]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[37]
|
|
|
NM_016239.4(MYO15A):c.4038+8GT[38]
|
|
|
NM_016239.4(MYO15A):c.4038+8_4038+9insAGTGTGTGTG
|
|
|
NM_016239.4(MYO15A):c.4038+8_4038+9insAGTGTGTGTGTG
|
|
|
NM_016239.4(MYO15A):c.4038+8_4038+9insCG
|
|
|
NM_016239.4(MYO15A):c.4038+9T>A
|
|
|
NM_016239.4(MYO15A):c.4039-14C>T
|
|
|
NM_016239.4(MYO15A):c.4039-16T>C
|
|
|
NM_016239.4(MYO15A):c.4039-2A>G
|
|
|
NM_016239.4(MYO15A):c.4049del (p.Ala1350fs)
|
|
|
NM_016239.4(MYO15A):c.4056C>T (p.Pro1352=)
|
|
|
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs)
|
rs770991317
|
|
NM_016239.4(MYO15A):c.405C>T (p.Asn135=)
|
|
|
NM_016239.4(MYO15A):c.4062G>A (p.Leu1354=)
|
|
|
NM_016239.4(MYO15A):c.4068C>T (p.Ser1356=)
|
|
|
NM_016239.4(MYO15A):c.4071C>T (p.Phe1357=)
|
|
|
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
|
|
|
NM_016239.4(MYO15A):c.4077T>C (p.Asn1359=)
|
|
|
NM_016239.4(MYO15A):c.4086C>G (p.Thr1362=)
|
|
|
NM_016239.4(MYO15A):c.4086C>T (p.Thr1362=)
|
|
|
NM_016239.4(MYO15A):c.4095C>T (p.Asn1365=)
|
|
|
NM_016239.4(MYO15A):c.411C>T (p.Leu137=)
|
|
|
NM_016239.4(MYO15A):c.4142+13A>T
|
|
|
NM_016239.4(MYO15A):c.4142+19G>A
|
|
|
NM_016239.4(MYO15A):c.4142+20G>A
|
|
|
NM_016239.4(MYO15A):c.4142+2T>C
|
|
|
NM_016239.4(MYO15A):c.4143-10C>T
|
|
|
NM_016239.4(MYO15A):c.4143-1G>A
|
|
|
NM_016239.4(MYO15A):c.4146C>T (p.Gly1382=)
|
|
|
NM_016239.4(MYO15A):c.4147G>A (p.Val1383Met)
|
|
|
NM_016239.4(MYO15A):c.4170C>T (p.Ser1390=)
|
|
|
NM_016239.4(MYO15A):c.4173del (p.Gln1391fs)
|
|
|
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter)
|
rs1199192203
|
|
NM_016239.4(MYO15A):c.4177C>G (p.Leu1393Val)
|
|
|
NM_016239.4(MYO15A):c.4206+12C>G
|
|
|
NM_016239.4(MYO15A):c.4206+13C>T
|
|
|
NM_016239.4(MYO15A):c.4206+17C>G
|
|
|
NM_016239.4(MYO15A):c.4206+17C>T
|
|
|
NM_016239.4(MYO15A):c.4206+20G>C
|
|
|
NM_016239.4(MYO15A):c.4206+20G>T
|
|
|
NM_016239.4(MYO15A):c.4206+9C>A
|
rs745477950
|
|
NM_016239.4(MYO15A):c.4206+9C>T
|
|
|
NM_016239.4(MYO15A):c.4206G>C (p.Gln1402His)
|
|
|
NM_016239.4(MYO15A):c.4207-13A>C
|
|
|
NM_016239.4(MYO15A):c.4207-14dup
|
|
|
NM_016239.4(MYO15A):c.4207-16C>T
|
|
|
NM_016239.4(MYO15A):c.4207-18C>G
|
|
|
NM_016239.4(MYO15A):c.4207-18del
|
rs775292452
|
|
NM_016239.4(MYO15A):c.4207-20C>A
|
|
|
NM_016239.4(MYO15A):c.4207-5T>G
|
|
|
NM_016239.4(MYO15A):c.4207-6C>G
|
|
|
NM_016239.4(MYO15A):c.4207-9A>G
|
rs779559878
|
|
NM_016239.4(MYO15A):c.4215C>T (p.Asn1405=)
|
|
|
NM_016239.4(MYO15A):c.4230C>T (p.His1410=)
|
|
|
NM_016239.4(MYO15A):c.4232TCT[1] (p.Phe1412del)
|
rs1360450971
|
|
NM_016239.4(MYO15A):c.4239C>T (p.Tyr1413=)
|
rs1394967214
|
|
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys)
|
rs1060499798
|
|
NM_016239.4(MYO15A):c.4251C>G (p.Ala1417=)
|
|
|
NM_016239.4(MYO15A):c.4264C>T (p.Gln1422Ter)
|
|
|
NM_016239.4(MYO15A):c.426C>G (p.Leu142=)
|
|
|
NM_016239.4(MYO15A):c.4287G>C (p.Leu1429=)
|
rs779798693
|
|
NM_016239.4(MYO15A):c.4293G>A (p.Glu1431=)
|
|
|
NM_016239.4(MYO15A):c.4308C>T (p.Tyr1436=)
|
|
|
NM_016239.4(MYO15A):c.4310A>C (p.Tyr1437Ser)
|
|
|
NM_016239.4(MYO15A):c.4311T>C (p.Tyr1437=)
|
|
|
NM_016239.4(MYO15A):c.4320+12C>T
|
|
|
NM_016239.4(MYO15A):c.4320+14G>A
|
|
|
NM_016239.4(MYO15A):c.4320+15G>C
|
|
|
NM_016239.4(MYO15A):c.4320+15G>T
|
|
|
NM_016239.4(MYO15A):c.4320+18T>C
|
|
|
NM_016239.4(MYO15A):c.4320+19C>A
|
|
|
NM_016239.4(MYO15A):c.4320+1G>C
|
|
|
NM_016239.4(MYO15A):c.4320+2_4320+3insA
|
|
|
NM_016239.4(MYO15A):c.4320+7G>A
|
|
|
NM_016239.4(MYO15A):c.4321-2A>T
|
rs1597780918
|
|
NM_016239.4(MYO15A):c.4321-6A>G
|
|
|
NM_016239.4(MYO15A):c.4321-6A>T
|
|
|
NM_016239.4(MYO15A):c.4326G>A (p.Gly1442=)
|
rs1047323429
|
|
NM_016239.4(MYO15A):c.432G>A (p.Lys144=)
|
|
|
NM_016239.4(MYO15A):c.4338A>C (p.Ile1446=)
|
|
|
NM_016239.4(MYO15A):c.4341A>G (p.Ala1447=)
|
|
|
NM_016239.4(MYO15A):c.4347G>A (p.Lys1449=)
|
|
|
NM_016239.4(MYO15A):c.4350C>T (p.Ser1450=)
|
|
|
NM_016239.4(MYO15A):c.4355C>T (p.Ala1452Val)
|
|
|
NM_016239.4(MYO15A):c.4359T>C (p.Asp1453=)
|
|
|
NM_016239.4(MYO15A):c.4374C>T (p.Leu1458=)
|
|
|
NM_016239.4(MYO15A):c.438C>A (p.Ala146=)
|
|
|
NM_016239.4(MYO15A):c.4419C>T (p.Asp1473=)
|
|
|
NM_016239.4(MYO15A):c.4422C>T (p.Ser1474=)
|
|
|
NM_016239.4(MYO15A):c.4425C>A (p.Ile1475=)
|
|
|
NM_016239.4(MYO15A):c.4431C>T (p.Arg1477=)
|
|
|
NM_016239.4(MYO15A):c.4437G>A (p.Leu1479=)
|
|
|
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro)
|
rs758896141
|
|
NM_016239.4(MYO15A):c.4443C>A (p.Ser1481=)
|
|
|
NM_016239.4(MYO15A):c.4449G>C (p.Leu1483=)
|
|
|
NM_016239.4(MYO15A):c.4455G>A (p.Leu1485=)
|
|
|
NM_016239.4(MYO15A):c.447G>A (p.Ser149=)
|
|
|
NM_016239.4(MYO15A):c.4482+11G>A
|
|
|
NM_016239.4(MYO15A):c.4482+15C>T
|
|
|
NM_016239.4(MYO15A):c.4482+16A>T
|
|
|
NM_016239.4(MYO15A):c.4482+17G>A
|
|
|
NM_016239.4(MYO15A):c.4482+6G>A
|
|
|
NM_016239.4(MYO15A):c.4491A>G (p.Ala1497=)
|
|
|
NM_016239.4(MYO15A):c.4497G>A (p.Glu1499=)
|
|
|
NM_016239.4(MYO15A):c.4509G>C (p.Val1503=)
|
|
|
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter)
|
rs549138385
|
|
NM_016239.4(MYO15A):c.4527C>T (p.Ile1509=)
|
|
|
NM_016239.4(MYO15A):c.4536G>T (p.Val1512=)
|
|
|
NM_016239.4(MYO15A):c.453C>T (p.Ser151=)
|
|
|
NM_016239.4(MYO15A):c.4548G>A (p.Leu1516=)
|
|
|
NM_016239.4(MYO15A):c.4549C>T (p.Gln1517Ter)
|
|
|
NM_016239.4(MYO15A):c.4563G>A (p.Glu1521=)
|
|
|
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs)
|
rs2046256329
|
|
NM_016239.4(MYO15A):c.4581del (p.Thr1528fs)
|
rs1597784648
|
|
NM_016239.4(MYO15A):c.4584C>T (p.Thr1528=)
|
|
|
NM_016239.4(MYO15A):c.4596+1G>A
|
|
|
NM_016239.4(MYO15A):c.4596C>A (p.Thr1532=)
|
|
|
NM_016239.4(MYO15A):c.4597-15T>G
|
|
|
NM_016239.4(MYO15A):c.4597-17G>C
|
rs990070889
|
|
NM_016239.4(MYO15A):c.4597-18G>C
|
|
|
NM_016239.4(MYO15A):c.4597-4del
|
|
|
NM_016239.4(MYO15A):c.4597-8G>A
|
|
|
NM_016239.4(MYO15A):c.4606C>A (p.Arg1536=)
|
|
|
NM_016239.4(MYO15A):c.4606C>G (p.Arg1536Gly)
|
|
|
NM_016239.4(MYO15A):c.4606C>T (p.Arg1536Ter)
|
rs371352951
|
|
NM_016239.4(MYO15A):c.4611G>A (p.Glu1537=)
|
|
|
NM_016239.4(MYO15A):c.4614G>A (p.Lys1538=)
|
|
|
NM_016239.4(MYO15A):c.4615A>G (p.Ile1539Val)
|
|
|
NM_016239.4(MYO15A):c.4617C>T (p.Ile1539=)
|
|
|
NM_016239.4(MYO15A):c.4655+10C>T
|
|
|
NM_016239.4(MYO15A):c.4655+12C>G
|
|
|
NM_016239.4(MYO15A):c.4655+15T>C
|
|
|
NM_016239.4(MYO15A):c.4655+18C>G
|
|
|
NM_016239.4(MYO15A):c.4655+18C>T
|
|
|
NM_016239.4(MYO15A):c.4656-11del
|
rs767773802
|
|
NM_016239.4(MYO15A):c.4656-12C>T
|
|
|
NM_016239.4(MYO15A):c.4656-14C>A
|
|
|
NM_016239.4(MYO15A):c.4656-15C>T
|
|
|
NM_016239.4(MYO15A):c.4656-16A>G
|
|
|
NM_016239.4(MYO15A):c.4656-18G>A
|
|
|
NM_016239.4(MYO15A):c.4656-5T>C
|
|
|
NM_016239.4(MYO15A):c.4656-8T>C
|
|
|
NM_016239.4(MYO15A):c.4659C>T (p.Asp1553=)
|
|
|
NM_016239.4(MYO15A):c.4662C>T (p.Ala1554=)
|
|
|
NM_016239.4(MYO15A):c.4665C>T (p.Ile1555=)
|
|
|
NM_016239.4(MYO15A):c.4677G>A (p.Leu1559=)
|
|
|
NM_016239.4(MYO15A):c.4682C>T (p.Ala1561Val)
|
|
|
NM_016239.4(MYO15A):c.4689G>C (p.Leu1563=)
|
|
|
NM_016239.4(MYO15A):c.4701C>T (p.Leu1567=)
|
|
|
NM_016239.4(MYO15A):c.4707C>T (p.Thr1569=)
|
|
|
NM_016239.4(MYO15A):c.4708A>C (p.Arg1570=)
|
|
|
NM_016239.4(MYO15A):c.4716C>T (p.Asn1572=)
|
|
|
NM_016239.4(MYO15A):c.471C>T (p.Asp157=)
|
|
|
NM_016239.4(MYO15A):c.4722G>A (p.Leu1574=)
|
|
|
NM_016239.4(MYO15A):c.4728C>T (p.Ser1576=)
|
|
|
NM_016239.4(MYO15A):c.4745T>C (p.Leu1582Pro)
|
|
|
NM_016239.4(MYO15A):c.474C>T (p.Ala158=)
|
|
|
NM_016239.4(MYO15A):c.4752C>T (p.Ile1584=)
|
|
|
NM_016239.4(MYO15A):c.4755C>T (p.Ala1585=)
|
|
|
NM_016239.4(MYO15A):c.4759C>T (p.Leu1587=)
|
|
|
NM_016239.4(MYO15A):c.4773T>C (p.Gly1591=)
|
|
|
NM_016239.4(MYO15A):c.4779+15G>A
|
|
|
NM_016239.4(MYO15A):c.4779+9G>C
|
|
|
NM_016239.4(MYO15A):c.4779+9G>T
|
|
|
NM_016239.4(MYO15A):c.4780-17C>A
|
|
|
NM_016239.4(MYO15A):c.4780-17C>T
|
|
|
NM_016239.4(MYO15A):c.4780-19A>C
|
|
|
NM_016239.4(MYO15A):c.4780-20C>T
|
|
|
NM_016239.4(MYO15A):c.4780-4G>A
|
|
|
NM_016239.4(MYO15A):c.4821C>A (p.Tyr1607Ter)
|
rs769768100
|
|
NM_016239.4(MYO15A):c.4821C>T (p.Tyr1607=)
|
|
|
NM_016239.4(MYO15A):c.4828G>A (p.Glu1610Lys)
|
|
|
NM_016239.4(MYO15A):c.4857C>T (p.Ile1619=)
|
|
|
NM_016239.4(MYO15A):c.4858G>A (p.Val1620Ile)
|
|
|
NM_016239.4(MYO15A):c.4864C>T (p.Gln1622Ter)
|
|
|
NM_016239.4(MYO15A):c.4875+12C>T
|
|
|
NM_016239.4(MYO15A):c.4875+16T>C
|
|
|
NM_016239.4(MYO15A):c.4875+1G>A
|
|
|
NM_016239.4(MYO15A):c.4875+2T>G
|
|
|
NM_016239.4(MYO15A):c.4876-12C>T
|
|
|
NM_016239.4(MYO15A):c.4876-19T>C
|
|
|
NM_016239.4(MYO15A):c.4876-8G>T
|
|
|
NM_016239.4(MYO15A):c.4897A>T (p.Ile1633Leu)
|
|
|
NM_016239.4(MYO15A):c.489G>A (p.Ser163=)
|
|
|
NM_016239.4(MYO15A):c.489G>T (p.Ser163=)
|
|
|
NM_016239.4(MYO15A):c.4902C>T (p.Asp1634=)
|
|
|
NM_016239.4(MYO15A):c.4906C>T (p.Gln1636Ter)
|
|
|
NM_016239.4(MYO15A):c.4911G>A (p.Glu1637=)
|
|
|
NM_016239.4(MYO15A):c.4930C>T (p.Gln1644Ter)
|
|
|
NM_016239.4(MYO15A):c.4938C>T (p.Cys1646=)
|
|
|
NM_016239.4(MYO15A):c.4965T>C (p.Tyr1655=)
|
|
|
NM_016239.4(MYO15A):c.4974G>A (p.Leu1658=)
|
|
|
NM_016239.4(MYO15A):c.4983T>G (p.Leu1661=)
|
|
|
NM_016239.4(MYO15A):c.4986C>T (p.Asp1662=)
|
|
|
NM_016239.4(MYO15A):c.498C>G (p.Arg166=)
|
|
|
NM_016239.4(MYO15A):c.5007+12G>A
|
|
|
NM_016239.4(MYO15A):c.5007+16T>G
|
|
|
NM_016239.4(MYO15A):c.5007+1G>A
|
|
|
NM_016239.4(MYO15A):c.5007+1G>C
|
|
|
NM_016239.4(MYO15A):c.5007+8G>A
|
|
|
NM_016239.4(MYO15A):c.5007+8G>T
|
|
|
NM_016239.4(MYO15A):c.5007+9C>A
|
|
|
NM_016239.4(MYO15A):c.5008-4C>T
|
|
|
NM_016239.4(MYO15A):c.5008-5C>T
|
rs1430711917
|
|
NM_016239.4(MYO15A):c.5008-7C>T
|
|
|
NM_016239.4(MYO15A):c.5008-8G>A
|
|
|
NM_016239.4(MYO15A):c.5040C>T (p.His1680=)
|
|
|
NM_016239.4(MYO15A):c.5043C>T (p.Tyr1681=)
|
|
|
NM_016239.4(MYO15A):c.5049T>C (p.His1683=)
|
|
|
NM_016239.4(MYO15A):c.5052C>T (p.Gly1684=)
|
|
|
NM_016239.4(MYO15A):c.5057dup (p.Asn1686fs)
|
|
|
NM_016239.4(MYO15A):c.5061G>A (p.Pro1687=)
|
|
|
NM_016239.4(MYO15A):c.5065T>C (p.Tyr1689His)
|
rs2142328418
|
|
NM_016239.4(MYO15A):c.5067T>C (p.Tyr1689=)
|
|
|
NM_016239.4(MYO15A):c.5067T>G (p.Tyr1689Ter)
|
|
|
NM_016239.4(MYO15A):c.5076C>T (p.Pro1692=)
|
|
|
NM_016239.4(MYO15A):c.507C>G (p.Ser169=)
|
|
|
NM_016239.4(MYO15A):c.5081T>C (p.Met1694Thr)
|
|
|
NM_016239.4(MYO15A):c.5085G>A (p.Pro1695=)
|
|
|
NM_016239.4(MYO15A):c.5091T>G (p.Pro1697=)
|
|
|
NM_016239.4(MYO15A):c.5133+18C>T
|
|
|
NM_016239.4(MYO15A):c.5133+19G>A
|
|
|
NM_016239.4(MYO15A):c.5133+1G>A
|
|
|
NM_016239.4(MYO15A):c.5133+20G>A
|
|
|
NM_016239.4(MYO15A):c.5134-10C>T
|
rs543495013
|
|
NM_016239.4(MYO15A):c.5134-11C>A
|
|
|
NM_016239.4(MYO15A):c.5134-16T>C
|
|
|
NM_016239.4(MYO15A):c.5134-17A>G
|
|
|
NM_016239.4(MYO15A):c.5134-6T>G
|
|
|
NM_016239.4(MYO15A):c.5136G>T (p.Val1712=)
|
|
|
NM_016239.4(MYO15A):c.514C>T (p.Leu172Phe)
|
|
|
NM_016239.4(MYO15A):c.5151C>T (p.Asp1717=)
|
|
|
NM_016239.4(MYO15A):c.5155A>G (p.Asn1719Asp)
|
|
|
NM_016239.4(MYO15A):c.5160C>G (p.His1720Gln)
|
|
|
NM_016239.4(MYO15A):c.5160C>T (p.His1720=)
|
|
|
NM_016239.4(MYO15A):c.5190G>C (p.Leu1730=)
|
|
|
NM_016239.4(MYO15A):c.5194G>C (p.Val1732Leu)
|
rs377309887
|
|
NM_016239.4(MYO15A):c.5197C>A (p.Arg1733=)
|
rs369755064
|
|
NM_016239.4(MYO15A):c.5198G>A (p.Arg1733Gln)
|
|
|
NM_016239.4(MYO15A):c.519C>T (p.Pro173=)
|
|
|
NM_016239.4(MYO15A):c.51G>C (p.Gly17=)
|
|
|
NM_016239.4(MYO15A):c.51G>T (p.Gly17=)
|
|
|
NM_016239.4(MYO15A):c.5203C>T (p.Arg1735Trp)
|
|
|
NM_016239.4(MYO15A):c.5208A>G (p.Thr1736=)
|
|
|
NM_016239.4(MYO15A):c.5211+10G>A
|
|
|
NM_016239.4(MYO15A):c.5211+11C>T
|
|
|
NM_016239.4(MYO15A):c.5211+17A>T
|
|
|
NM_016239.4(MYO15A):c.5211+19C>T
|
|
|
NM_016239.4(MYO15A):c.5211+20G>A
|
|
|
NM_016239.4(MYO15A):c.5211+8T>G
|
|
|
NM_016239.4(MYO15A):c.5212-12A>T
|
|
|
NM_016239.4(MYO15A):c.5212-13G>A
|
rs772088992
|
|
NM_016239.4(MYO15A):c.5212-14C>G
|
|
|
NM_016239.4(MYO15A):c.5212-2A>G
|
|
|
NM_016239.4(MYO15A):c.5217G>A (p.Val1739=)
|
rs2046358921
|
|
NM_016239.4(MYO15A):c.5241C>T (p.Ala1747=)
|
|
|
NM_016239.4(MYO15A):c.525G>A (p.Pro175=)
|
|
|
NM_016239.4(MYO15A):c.5262C>T (p.Arg1754=)
|
|
|
NM_016239.4(MYO15A):c.5280C>T (p.Ser1760=)
|
|
|
NM_016239.4(MYO15A):c.528G>A (p.Ser176=)
|
|
|
NM_016239.4(MYO15A):c.5307T>C (p.Thr1769=)
|
|
|
NM_016239.4(MYO15A):c.5313C>T (p.Ala1771=)
|
|
|
NM_016239.4(MYO15A):c.5335C>T (p.Leu1779=)
|
|
|
NM_016239.4(MYO15A):c.534C>A (p.Ala178=)
|
|
|
NM_016239.4(MYO15A):c.534C>G (p.Ala178=)
|
|
|
NM_016239.4(MYO15A):c.534C>T (p.Ala178=)
|
rs749146534
|
|
NM_016239.4(MYO15A):c.5352G>A (p.Lys1784=)
|
|
|
NM_016239.4(MYO15A):c.535G>T (p.Glu179Ter)
|
|
|
NM_016239.4(MYO15A):c.5360+13G>A
|
|
|
NM_016239.4(MYO15A):c.5360+13del
|
|
|
NM_016239.4(MYO15A):c.5360+17G>A
|
|
|
NM_016239.4(MYO15A):c.5360+18T>G
|
|
|
NM_016239.4(MYO15A):c.5360+7T>A
|
|
|
NM_016239.4(MYO15A):c.5364C>T (p.Cys1788=)
|
|
|
NM_016239.4(MYO15A):c.5367C>T (p.Asn1789=)
|
|
|
NM_016239.4(MYO15A):c.5370C>A (p.Pro1790=)
|
|
|
NM_016239.4(MYO15A):c.5370C>T (p.Pro1790=)
|
|
|
NM_016239.4(MYO15A):c.5373G>A (p.Leu1791=)
|
|
|
NM_016239.4(MYO15A):c.5388G>A (p.Leu1796=)
|
|
|
NM_016239.4(MYO15A):c.5406+10A>G
|
|
|
NM_016239.4(MYO15A):c.5406+11G>T
|
|
|
NM_016239.4(MYO15A):c.5406+16G>C
|
|
|
NM_016239.4(MYO15A):c.5406+17G>T
|
|
|
NM_016239.4(MYO15A):c.5406+18C>T
|
|
|
NM_016239.4(MYO15A):c.5407-16C>T
|
|
|
NM_016239.4(MYO15A):c.5407-2A>T
|
|
|
NM_016239.4(MYO15A):c.540C>T (p.Ile180=)
|
|
|
NM_016239.4(MYO15A):c.5414_5415del (p.Gly1805fs)
|
|
|
NM_016239.4(MYO15A):c.5420_5421del (p.Leu1806_Phe1807insTer)
|
|
|
NM_016239.4(MYO15A):c.5424G>A (p.Glu1808=)
|
|
|
NM_016239.4(MYO15A):c.5427A>G (p.Pro1809=)
|
|
|
NM_016239.4(MYO15A):c.5432T>C (p.Val1811Ala)
|
|
|
NM_016239.4(MYO15A):c.5443C>T (p.Gln1815Ter)
|
|
|
NM_016239.4(MYO15A):c.544C>A (p.Arg182=)
|
rs200652330
|
|
NM_016239.4(MYO15A):c.5461del (p.Val1821fs)
|
rs764867438
|
|
NM_016239.4(MYO15A):c.546G>C (p.Arg182=)
|
|
|
NM_016239.4(MYO15A):c.5472C>T (p.Thr1824=)
|
|
|
NM_016239.4(MYO15A):c.5482C>T (p.Arg1828Cys)
|
|
|
NM_016239.4(MYO15A):c.5492del (p.Gly1831fs)
|
rs747371923
|
|
NM_016239.4(MYO15A):c.5493A>T (p.Gly1831=)
|
|
|
NM_016239.4(MYO15A):c.549T>G (p.Pro183=)
|
|
|
NM_016239.4(MYO15A):c.5503C>T (p.Arg1835Cys)
|
|
|
NM_016239.4(MYO15A):c.5504G>A (p.Arg1835His)
|
|
|
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu)
|
rs752816535
|
|
NM_016239.4(MYO15A):c.5506del (p.Leu1836fs)
|
|
|
NM_016239.4(MYO15A):c.5507T>C (p.Leu1836Pro)
|
rs1253612362
|
|
NM_016239.4(MYO15A):c.5515C>T (p.Gln1839Ter)
|
|
|
NM_016239.4(MYO15A):c.5520G>T (p.Gly1840=)
|
|
|
NM_016239.4(MYO15A):c.5531+13C>T
|
|
|
NM_016239.4(MYO15A):c.5531+14G>A
|
|
|
NM_016239.4(MYO15A):c.5531+14G>C
|
|
|
NM_016239.4(MYO15A):c.5531+7T>G
|
|
|
NM_016239.4(MYO15A):c.5531+8G>C
|
|
|
NM_016239.4(MYO15A):c.5532-11C>T
|
|
|
NM_016239.4(MYO15A):c.5532-8C>A
|
|
|
NM_016239.4(MYO15A):c.5532-9C>G
|
|
|
NM_016239.4(MYO15A):c.5541T>C (p.Cys1847=)
|
|
|
NM_016239.4(MYO15A):c.5543T>C (p.Leu1848Pro)
|
|
|
NM_016239.4(MYO15A):c.555C>T (p.Gly185=)
|
|
|
NM_016239.4(MYO15A):c.556C>A (p.Arg186=)
|
|
|
NM_016239.4(MYO15A):c.5574T>C (p.Asn1858=)
|
|
|
NM_016239.4(MYO15A):c.558G>A (p.Arg186=)
|
|
|
NM_016239.4(MYO15A):c.5607G>A (p.Leu1869=)
|
|
|
NM_016239.4(MYO15A):c.5634T>C (p.Arg1878=)
|
|
|
NM_016239.4(MYO15A):c.5639G>A (p.Gly1880Glu)
|
|
|
NM_016239.4(MYO15A):c.5649+11C>T
|
|
|
NM_016239.4(MYO15A):c.5649+14G>T
|
|
|
NM_016239.4(MYO15A):c.5649+16C>T
|
|
|
NM_016239.4(MYO15A):c.5649+1_5649+3del
|
|
|
NM_016239.4(MYO15A):c.5650-10C>T
|
|
|
NM_016239.4(MYO15A):c.5650-18_5650-8del
|
|
|
NM_016239.4(MYO15A):c.5650-5C>T
|
|
|
NM_016239.4(MYO15A):c.5650-8G>C
|
|
|
NM_016239.4(MYO15A):c.5667C>T (p.His1889=)
|
|
|
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter)
|
rs2046392476
|
|
NM_016239.4(MYO15A):c.5673C>T (p.Tyr1891=)
|
|
|
NM_016239.4(MYO15A):c.5674C>T (p.Gln1892Ter)
|
|
|
NM_016239.4(MYO15A):c.5676G>A (p.Gln1892=)
|
|
|
NM_016239.4(MYO15A):c.5686_5687dup (p.Ser1896fs)
|
|
|
NM_016239.4(MYO15A):c.5688T>C (p.Ser1896=)
|
|
|
NM_016239.4(MYO15A):c.5692C>A (p.Arg1898=)
|
|
|
NM_016239.4(MYO15A):c.5718C>T (p.Ala1906=)
|
|
|
NM_016239.4(MYO15A):c.5730dup (p.Arg1911fs)
|
rs2142341398
|
|
NM_016239.4(MYO15A):c.5736C>T (p.Cys1912=)
|
|
|
NM_016239.4(MYO15A):c.5745C>T (p.Gly1915=)
|
|
|
NM_016239.4(MYO15A):c.5749T>C (p.Phe1917Leu)
|
|
|
NM_016239.4(MYO15A):c.574dup (p.Arg192fs)
|
|
|
NM_016239.4(MYO15A):c.5760G>A (p.Arg1920=)
|
|
|
NM_016239.4(MYO15A):c.5761C>T (p.Arg1921Ter)
|
|
|
NM_016239.4(MYO15A):c.5767C>T (p.Arg1923Cys)
|
|
|
NM_016239.4(MYO15A):c.576C>T (p.Arg192=)
|
|
|
NM_016239.4(MYO15A):c.5787C>A (p.Ile1929=)
|
|
|
NM_016239.4(MYO15A):c.5804G>A (p.Arg1935Gln)
|
rs876657900
|
|
NM_016239.4(MYO15A):c.5820T>C (p.Leu1940=)
|
|
|
NM_016239.4(MYO15A):c.5825+11G>A
|
|
|
NM_016239.4(MYO15A):c.5825+9C>A
|
|
|
NM_016239.4(MYO15A):c.5826-14_5826-7del
|
|
|
NM_016239.4(MYO15A):c.5826-19C>T
|
|
|
NM_016239.4(MYO15A):c.582C>T (p.Arg194=)
|
|
|
NM_016239.4(MYO15A):c.5838del (p.Gln1946fs)
|
|
|
NM_016239.4(MYO15A):c.5868G>A (p.Arg1956=)
|
|
|
NM_016239.4(MYO15A):c.5870_5876del (p.Ser1957fs)
|
|
|
NM_016239.4(MYO15A):c.5881G>A (p.Ala1961Thr)
|
|
|
NM_016239.4(MYO15A):c.5883A>C (p.Ala1961=)
|
|
|
NM_016239.4(MYO15A):c.5883A>T (p.Ala1961=)
|
|
|
NM_016239.4(MYO15A):c.5890del (p.Ser1964fs)
|
|
|
NM_016239.4(MYO15A):c.5910+13C>T
|
|
|
NM_016239.4(MYO15A):c.5910+14C>A
|
|
|
NM_016239.4(MYO15A):c.5911-13T>A
|
|
|
NM_016239.4(MYO15A):c.5911-18A>G
|
|
|
NM_016239.4(MYO15A):c.5911-18A>T
|
|
|
NM_016239.4(MYO15A):c.5911-9C>T
|
|
|
NM_016239.4(MYO15A):c.5922G>A (p.Glu1974=)
|
|
|
NM_016239.4(MYO15A):c.5935G>A (p.Val1979Met)
|
|
|
NM_016239.4(MYO15A):c.5946G>A (p.Ala1982=)
|
|
|
NM_016239.4(MYO15A):c.5947C>T (p.Leu1983=)
|
|
|
NM_016239.4(MYO15A):c.5949G>A (p.Leu1983=)
|
|
|
NM_016239.4(MYO15A):c.594G>A (p.Ala198=)
|
rs775048581
|
|
NM_016239.4(MYO15A):c.5958G>A (p.Glu1986=)
|
rs727504916
|
|
NM_016239.4(MYO15A):c.5964+17G>A
|
|
|
NM_016239.4(MYO15A):c.5964+17G>T
|
|
|
NM_016239.4(MYO15A):c.5964+3G>A
|
rs530975087
|
|
NM_016239.4(MYO15A):c.5965-10G>A
|
|
|
NM_016239.4(MYO15A):c.5965-11T>C
|
|
|
NM_016239.4(MYO15A):c.5985A>G (p.Val1995=)
|
|
|
NM_016239.4(MYO15A):c.5997dup (p.His2000fs)
|
|
|
NM_016239.4(MYO15A):c.5C>G (p.Ala2Gly)
|
|
|
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
|
|
|
NM_016239.4(MYO15A):c.6005A>C (p.Glu2002Ala)
|
|
|
NM_016239.4(MYO15A):c.600C>A (p.Gly200=)
|
|
|
NM_016239.4(MYO15A):c.600C>T (p.Gly200=)
|
|
|
NM_016239.4(MYO15A):c.6017A>G (p.Glu2006Gly)
|
|
|
NM_016239.4(MYO15A):c.6033G>A (p.Leu2011=)
|
|
|
NM_016239.4(MYO15A):c.6046+12C>G
|
|
|
NM_016239.4(MYO15A):c.6046+12C>T
|
|
|
NM_016239.4(MYO15A):c.6046+14A>C
|
|
|
NM_016239.4(MYO15A):c.6046+16G>A
|
|
|
NM_016239.4(MYO15A):c.6046+17C>G
|
|
|
NM_016239.4(MYO15A):c.6046+18G>A
|
rs369719467
|
|
NM_016239.4(MYO15A):c.6046+18G>C
|
|
|
NM_016239.4(MYO15A):c.6046+18G>T
|
|
|
NM_016239.4(MYO15A):c.6046+19G>A
|
|
|
NM_016239.4(MYO15A):c.6046+20G>A
|
|
|
NM_016239.4(MYO15A):c.6046+20G>C
|
|
|
NM_016239.4(MYO15A):c.6046+20G>T
|
|
|
NM_016239.4(MYO15A):c.6047-12C>T
|
|
|
NM_016239.4(MYO15A):c.6047-15C>T
|
|
|
NM_016239.4(MYO15A):c.6047-19T>C
|
|
|
NM_016239.4(MYO15A):c.6047-20A>C
|
|
|
NM_016239.4(MYO15A):c.6047-7T>C
|
|
|
NM_016239.4(MYO15A):c.6047-9T>C
|
|
|
NM_016239.4(MYO15A):c.6051C>T (p.Leu2017=)
|
|
|
NM_016239.4(MYO15A):c.6055C>T (p.Leu2019=)
|
|
|
NM_016239.4(MYO15A):c.6066G>A (p.Val2022=)
|
|
|
NM_016239.4(MYO15A):c.606C>T (p.Pro202=)
|
|
|
NM_016239.4(MYO15A):c.6081T>A (p.Pro2027=)
|
|
|
NM_016239.4(MYO15A):c.6084dup (p.Arg2029fs)
|
|
|
NM_016239.4(MYO15A):c.6093_6100del (p.Arg2032fs)
|
|
|
NM_016239.4(MYO15A):c.6094C>T (p.Arg2032Ter)
|
|
|
NM_016239.4(MYO15A):c.6099C>G (p.Leu2033=)
|
|
|
NM_016239.4(MYO15A):c.609G>C (p.Leu203=)
|
|
|
NM_016239.4(MYO15A):c.6127C>T (p.Leu2043=)
|
|
|
NM_016239.4(MYO15A):c.6139A>G (p.Asn2047Asp)
|
|
|
NM_016239.4(MYO15A):c.6156G>A (p.Lys2052=)
|
|
|
NM_016239.4(MYO15A):c.6171C>T (p.His2057=)
|
|
|
NM_016239.4(MYO15A):c.6177+2T>A
|
|
|
NM_016239.4(MYO15A):c.6177+2T>G
|
|
|
NM_016239.4(MYO15A):c.6178-11C>T
|
|
|
NM_016239.4(MYO15A):c.6178-13C>T
|
|
|
NM_016239.4(MYO15A):c.6178-14G>A
|
|
|
NM_016239.4(MYO15A):c.6178-15T>G
|
|
|
NM_016239.4(MYO15A):c.6178-6T>C
|
|
|
NM_016239.4(MYO15A):c.6180A>G (p.Glu2060=)
|
|
|
NM_016239.4(MYO15A):c.6193A>T (p.Met2065Leu)
|
|
|
NM_016239.4(MYO15A):c.6201A>C (p.Thr2067=)
|
|
|
NM_016239.4(MYO15A):c.6225G>A (p.Thr2075=)
|
|
|
NM_016239.4(MYO15A):c.6231G>T (p.Leu2077=)
|
|
|
NM_016239.4(MYO15A):c.6270G>A (p.Lys2090=)
|
|
|
NM_016239.4(MYO15A):c.6273+12G>T
|
|
|
NM_016239.4(MYO15A):c.6273+19C>T
|
|
|
NM_016239.4(MYO15A):c.6273+1G>T
|
|
|
NM_016239.4(MYO15A):c.6273+20C>T
|
|
|
NM_016239.4(MYO15A):c.6274-16T>A
|
|
|
NM_016239.4(MYO15A):c.6274-9G>A
|
|
|
NM_016239.4(MYO15A):c.627G>A (p.Glu209=)
|
|
|
NM_016239.4(MYO15A):c.6282C>T (p.Arg2094=)
|
|
|
NM_016239.4(MYO15A):c.6291C>T (p.Gly2097=)
|
rs745667542
|
|
NM_016239.4(MYO15A):c.6300C>T (p.His2100=)
|
|
|
NM_016239.4(MYO15A):c.6325T>C (p.Phe2109Leu)
|
|
|
NM_016239.4(MYO15A):c.6327C>T (p.Phe2109=)
|
|
|
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)
|
rs121908965
|
|
NM_016239.4(MYO15A):c.6339C>T (p.Ile2113=)
|
|
|
NM_016239.4(MYO15A):c.6352C>T (p.Leu2118=)
|
|
|
NM_016239.4(MYO15A):c.6353dup (p.Ala2119fs)
|
|
|
NM_016239.4(MYO15A):c.6367C>T (p.Leu2123=)
|
|
|
NM_016239.4(MYO15A):c.6369G>A (p.Leu2123=)
|
|
|
NM_016239.4(MYO15A):c.636C>T (p.Ala212=)
|
|
|
NM_016239.4(MYO15A):c.6381C>T (p.Ile2127=)
|
|
|
NM_016239.4(MYO15A):c.63G>A (p.Pro21=)
|
rs769609152
|
|
NM_016239.4(MYO15A):c.6403G>T (p.Val2135Leu)
|
rs374716848
|
|
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg)
|
rs2142355107
|
|
NM_016239.4(MYO15A):c.6449T>A (p.Leu2150Gln)
|
|
|
NM_016239.4(MYO15A):c.6456C>T (p.Ala2152=)
|
|
|
NM_016239.4(MYO15A):c.6471C>G (p.Gly2157=)
|
|
|
NM_016239.4(MYO15A):c.6471C>T (p.Gly2157=)
|
|
|
NM_016239.4(MYO15A):c.6485C>T (p.Pro2162Leu)
|
|
|
NM_016239.4(MYO15A):c.6504T>C (p.Leu2168=)
|
|
|
NM_016239.4(MYO15A):c.6509+12T>C
|
|
|
NM_016239.4(MYO15A):c.6509+13G>A
|
|
|
NM_016239.4(MYO15A):c.6509+15dup
|
|
|
NM_016239.4(MYO15A):c.6509+16T>C
|
|
|
NM_016239.4(MYO15A):c.6509+17A>C
|
|
|
NM_016239.4(MYO15A):c.6509+21del
|
|
|
NM_016239.4(MYO15A):c.6510-13T>C
|
|
|
NM_016239.4(MYO15A):c.6510-16A>C
|
|
|
NM_016239.4(MYO15A):c.6510-5A>T
|
|
|
NM_016239.4(MYO15A):c.6510-7C>T
|
|
|
NM_016239.4(MYO15A):c.6514del (p.Val2172fs)
|
|
|
NM_016239.4(MYO15A):c.6525_6532del (p.Tyr2175_Asn2178delinsTer)
|
|
|
NM_016239.4(MYO15A):c.6528G>A (p.Gly2176=)
|
|
|
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs)
|
rs2142360575
|
|
NM_016239.4(MYO15A):c.6560_6561del (p.Arg2187fs)
|
|
|
NM_016239.4(MYO15A):c.6573C>T (p.Ala2191=)
|
|
|
NM_016239.4(MYO15A):c.6579_6582dup (p.Ala2195fs)
|
|
|
NM_016239.4(MYO15A):c.657C>T (p.Ser219=)
|
|
|
NM_016239.4(MYO15A):c.6582G>C (p.Arg2194=)
|
|
|
NM_016239.4(MYO15A):c.6597C>T (p.Gly2199=)
|
|
|
NM_016239.4(MYO15A):c.659G>A (p.Arg220His)
|
rs2045861037
|
|
NM_016239.4(MYO15A):c.660C>A (p.Arg220=)
|
|
|
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His)
|
rs2046512154
|
|
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
|
|
|
NM_016239.4(MYO15A):c.6624G>C (p.Pro2208=)
|
|
|
NM_016239.4(MYO15A):c.6628C>T (p.Gln2210Ter)
|
|
|
NM_016239.4(MYO15A):c.6633C>T (p.Leu2211=)
|
|
|
NM_016239.4(MYO15A):c.6635A>G (p.Glu2212Gly)
|
|
|
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter)
|
rs1567649945
|
|
NM_016239.4(MYO15A):c.663G>A (p.Lys221=)
|
|
|
NM_016239.4(MYO15A):c.6645G>A (p.Ala2215=)
|
|
|
NM_016239.4(MYO15A):c.6657G>C (p.Lys2219Asn)
|
|
|
NM_016239.4(MYO15A):c.6668C>T (p.Ala2223Val)
|
|
|
NM_016239.4(MYO15A):c.666G>C (p.Ser222=)
|
|
|
NM_016239.4(MYO15A):c.6675C>T (p.Asp2225=)
|
|
|
NM_016239.4(MYO15A):c.6691+16C>T
|
|
|
NM_016239.4(MYO15A):c.6692-10T>C
|
|
|
NM_016239.4(MYO15A):c.6692-18G>C
|
|
|
NM_016239.4(MYO15A):c.6692-18G>T
|
|
|
NM_016239.4(MYO15A):c.6692-20C>T
|
|
|
NM_016239.4(MYO15A):c.6708C>T (p.Cys2236=)
|
|
|
NM_016239.4(MYO15A):c.6711G>A (p.Pro2237=)
|
|
|
NM_016239.4(MYO15A):c.672C>T (p.Tyr224=)
|
|
|
NM_016239.4(MYO15A):c.6735A>G (p.Glu2245=)
|
rs1555545575
|
|
NM_016239.4(MYO15A):c.6754_6755del (p.Leu2252fs)
|
|
|
NM_016239.4(MYO15A):c.6756G>C (p.Leu2252=)
|
|
|
NM_016239.4(MYO15A):c.675G>T (p.Gly225=)
|
|
|
NM_016239.4(MYO15A):c.6764+16G>A
|
|
|
NM_016239.4(MYO15A):c.6764+9C>T
|
|
|
NM_016239.4(MYO15A):c.6765-19C>T
|
|
|
NM_016239.4(MYO15A):c.6765-2A>G
|
rs2142362830
|
|
NM_016239.4(MYO15A):c.6765-4C>T
|
|
|
NM_016239.4(MYO15A):c.6768G>C (p.Gly2256=)
|
|
|
NM_016239.4(MYO15A):c.6768G>T (p.Gly2256=)
|
rs1404878831
|
|
NM_016239.4(MYO15A):c.6774A>C (p.Ala2258=)
|
|
|
NM_016239.4(MYO15A):c.6784C>T (p.Arg2262Cys)
|
|
|
NM_016239.4(MYO15A):c.6786C>T (p.Arg2262=)
|
|
|
NM_016239.4(MYO15A):c.678T>G (p.Leu226=)
|
|
|
NM_016239.4(MYO15A):c.6791G>A (p.Trp2264Ter)
|
|
|
NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu)
|
rs2046528137
|
|
NM_016239.4(MYO15A):c.6828G>A (p.Glu2276=)
|
|
|
NM_016239.4(MYO15A):c.6840C>T (p.His2280=)
|
|
|
NM_016239.4(MYO15A):c.6845A>G (p.Tyr2282Cys)
|
|
|
NM_016239.4(MYO15A):c.6846C>T (p.Tyr2282=)
|
|
|
NM_016239.4(MYO15A):c.6849G>C (p.Val2283=)
|
|
|
NM_016239.4(MYO15A):c.6880A>C (p.Arg2294=)
|
|
|
NM_016239.4(MYO15A):c.6892C>T (p.Arg2298Ter)
|
|
|
NM_016239.4(MYO15A):c.6948C>A (p.Gly2316=)
|
|
|
NM_016239.4(MYO15A):c.6956+13G>T
|
|
|
NM_016239.4(MYO15A):c.6956+14G>A
|
|
|
NM_016239.4(MYO15A):c.6956+17G>A
|
|
|
NM_016239.4(MYO15A):c.6956+19C>T
|
|
|
NM_016239.4(MYO15A):c.6956+20C>T
|
|
|
NM_016239.4(MYO15A):c.6957-17G>A
|
|
|
NM_016239.4(MYO15A):c.6957-18T>G
|
|
|
NM_016239.4(MYO15A):c.6957-1G>A
|
|
|
NM_016239.4(MYO15A):c.6957-2A>C
|
|
|
NM_016239.4(MYO15A):c.6959dup (p.Phe2321fs)
|
|
|
NM_016239.4(MYO15A):c.696G>A (p.Leu232=)
|
|
|
NM_016239.4(MYO15A):c.6995C>A (p.Ser2332Tyr)
|
rs2142364188
|
|
NM_016239.4(MYO15A):c.69G>A (p.Pro23=)
|
|
|
NM_016239.4(MYO15A):c.69G>T (p.Pro23=)
|
|
|
NM_016239.4(MYO15A):c.7005C>G (p.Pro2335=)
|
|
|
NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs)
|
rs397517286
|
|
NM_016239.4(MYO15A):c.700G>T (p.Glu234Ter)
|
|
|
NM_016239.4(MYO15A):c.7015del (p.Glu2339fs)
|
rs2142364249
|
|
NM_016239.4(MYO15A):c.7056C>T (p.Ser2352=)
|
|
|
NM_016239.4(MYO15A):c.7061del (p.Asn2354fs)
|
|
|
NM_016239.4(MYO15A):c.7083G>C (p.Glu2361Asp)
|
|
|
NM_016239.4(MYO15A):c.7095A>G (p.Gln2365=)
|
|
|
NM_016239.4(MYO15A):c.7118-2A>C
|
|
|
NM_016239.4(MYO15A):c.7118-4C>G
|
|
|
NM_016239.4(MYO15A):c.7118-6del
|
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
NM_016239.4(MYO15A):c.7145_7146dup (p.Pro2383fs)
|
|
|
NM_016239.4(MYO15A):c.7158G>A (p.Gly2386=)
|
|
|
NM_016239.4(MYO15A):c.7170C>T (p.Tyr2390=)
|
|
|
NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer)
|
rs1415858976
|
|
NM_016239.4(MYO15A):c.7191T>C (p.Pro2397=)
|
|
|
NM_016239.4(MYO15A):c.7203C>T (p.Tyr2401=)
|
|
|
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr)
|
rs878853227
|
|
NM_016239.4(MYO15A):c.7212+11T>C
|
|
|
NM_016239.4(MYO15A):c.7212+13T>G
|
|
|
NM_016239.4(MYO15A):c.7212+17G>A
|
|
|
NM_016239.4(MYO15A):c.7212+9G>A
|
|
|
NM_016239.4(MYO15A):c.7213-11A>G
|
|
|
NM_016239.4(MYO15A):c.7213-13C>T
|
|
|
NM_016239.4(MYO15A):c.7213-13_7213-10del
|
|
|
NM_016239.4(MYO15A):c.7213-15A>G
|
|
|
NM_016239.4(MYO15A):c.7213-16C>T
|
|
|
NM_016239.4(MYO15A):c.7213-3C>T
|
|
|
NM_016239.4(MYO15A):c.7226del (p.Pro2409fs)
|
rs727503315
|
|
NM_016239.4(MYO15A):c.7233C>T (p.Ala2411=)
|
|
|
NM_016239.4(MYO15A):c.7244G>A (p.Arg2415His)
|
|
|
NM_016239.4(MYO15A):c.7254G>A (p.Gly2418=)
|
rs1265909514
|
|
NM_016239.4(MYO15A):c.7256_7259dup (p.Gln2421fs)
|
|
|
NM_016239.4(MYO15A):c.7263G>A (p.Gln2421=)
|
|
|
NM_016239.4(MYO15A):c.7266C>A (p.Pro2422=)
|
|
|
NM_016239.4(MYO15A):c.7269T>C (p.Gly2423=)
|
|
|
NM_016239.4(MYO15A):c.7284T>C (p.Ser2428=)
|
|
|
NM_016239.4(MYO15A):c.7296C>T (p.Asp2432=)
|
|
|
NM_016239.4(MYO15A):c.7299C>A (p.Thr2433=)
|
|
|
NM_016239.4(MYO15A):c.7302C>T (p.Pro2434=)
|
|
|
NM_016239.4(MYO15A):c.7327+19T>G
|
|
|
NM_016239.4(MYO15A):c.7327+20G>A
|
|
|
NM_016239.4(MYO15A):c.7327+8C>T
|
|
|
NM_016239.4(MYO15A):c.7327+9C>T
|
|
|
NM_016239.4(MYO15A):c.7328-12C>T
|
|
|
NM_016239.4(MYO15A):c.7328-13C>T
|
|
|
NM_016239.4(MYO15A):c.7328-14C>T
|
|
|
NM_016239.4(MYO15A):c.7328-15G>T
|
|
|
NM_016239.4(MYO15A):c.7328-16T>C
|
|
|
NM_016239.4(MYO15A):c.7328-19T>C
|
rs2142367823
|
|
NM_016239.4(MYO15A):c.7328-4T>G
|
|
|
NM_016239.4(MYO15A):c.7335C>A (p.Gly2445=)
|
|
|
NM_016239.4(MYO15A):c.7335C>T (p.Gly2445=)
|
|
|
NM_016239.4(MYO15A):c.7336C>T (p.Leu2446=)
|
|
|
NM_016239.4(MYO15A):c.7344C>T (p.Ala2448=)
|
|
|
NM_016239.4(MYO15A):c.7395+11G>A
|
|
|
NM_016239.4(MYO15A):c.7396-16T>C
|
|
|
NM_016239.4(MYO15A):c.7396-19C>T
|
|
|
NM_016239.4(MYO15A):c.7396-20C>A
|
|
|
NM_016239.4(MYO15A):c.7396-5C>T
|
|
|
NM_016239.4(MYO15A):c.7396-8C>T
|
|
|
NM_016239.4(MYO15A):c.7399C>T (p.Arg2467Trp)
|
|
|
NM_016239.4(MYO15A):c.7401G>A (p.Arg2467=)
|
|
|
NM_016239.4(MYO15A):c.741C>T (p.Asp247=)
|
|
|
NM_016239.4(MYO15A):c.7422G>A (p.Thr2474=)
|
|
|
NM_016239.4(MYO15A):c.7422G>C (p.Thr2474=)
|
|
|
NM_016239.4(MYO15A):c.743G>C (p.Arg248Pro)
|
|
|
NM_016239.4(MYO15A):c.7441_7442del (p.Leu2481fs)
|
|
|
NM_016239.4(MYO15A):c.7443G>A (p.Leu2481=)
|
|
|
NM_016239.4(MYO15A):c.744G>A (p.Arg248=)
|
|
|
NM_016239.4(MYO15A):c.7455G>C (p.Leu2485=)
|
|
|
NM_016239.4(MYO15A):c.7464G>A (p.Leu2488=)
|
|
|
NM_016239.4(MYO15A):c.7473+18A>G
|
|
|
NM_016239.4(MYO15A):c.7473+1G>A
|
|
|
NM_016239.4(MYO15A):c.7473+1G>C
|
|
|
NM_016239.4(MYO15A):c.7473+2T>G
|
rs1475492059
|
|
NM_016239.4(MYO15A):c.7474-14C>G
|
|
|
NM_016239.4(MYO15A):c.7474-16G>A
|
|
|
NM_016239.4(MYO15A):c.7474-16G>T
|
|
|
NM_016239.4(MYO15A):c.7474-16del
|
|
|
NM_016239.4(MYO15A):c.7474-17C>G
|
|
|
NM_016239.4(MYO15A):c.7474-17C>T
|
|
|
NM_016239.4(MYO15A):c.7474-20T>C
|
|
|
NM_016239.4(MYO15A):c.7474-5del
|
|
|
NM_016239.4(MYO15A):c.7474-6C>T
|
|
|
NM_016239.4(MYO15A):c.7474-8C>A
|
|
|
NM_016239.4(MYO15A):c.7474-9T>C
|
|
|
NM_016239.4(MYO15A):c.7488A>G (p.Pro2496=)
|
|
|
NM_016239.4(MYO15A):c.749C>G (p.Ser250Ter)
|
|
|
NM_016239.4(MYO15A):c.7500G>A (p.Pro2500=)
|
|
|
NM_016239.4(MYO15A):c.750A>T (p.Ser250=)
|
|
|
NM_016239.4(MYO15A):c.7515C>G (p.Thr2505=)
|
|
|
NM_016239.4(MYO15A):c.7515C>T (p.Thr2505=)
|
|
|
NM_016239.4(MYO15A):c.7516G>A (p.Gly2506Ser)
|
|
|
NM_016239.4(MYO15A):c.7534G>A (p.Val2512Met)
|
|
|
NM_016239.4(MYO15A):c.753C>T (p.Leu251=)
|
|
|
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser)
|
rs201119351
|
|
NM_016239.4(MYO15A):c.7550C>T (p.Thr2517Ile)
|
rs201119351
|
|
NM_016239.4(MYO15A):c.7551T>C (p.Thr2517=)
|
|
|
NM_016239.4(MYO15A):c.755dup (p.His252fs)
|
|
|
NM_016239.4(MYO15A):c.7560C>G (p.Pro2520=)
|
|
|
NM_016239.4(MYO15A):c.756C>T (p.His252=)
|
|
|
NM_016239.4(MYO15A):c.7572C>T (p.Ala2524=)
|
rs1597803670
|
|
NM_016239.4(MYO15A):c.7582A>T (p.Lys2528Ter)
|
|
|
NM_016239.4(MYO15A):c.7594_7595insGGGA (p.Leu2532fs)
|
|
|
NM_016239.4(MYO15A):c.7595_7598dup (p.Ile2534fs)
|
|
|
NM_016239.4(MYO15A):c.7596C>A (p.Leu2532=)
|
|
|
NM_016239.4(MYO15A):c.7599C>A (p.Pro2533=)
|
|
|
NM_016239.4(MYO15A):c.7611G>T (p.Val2537=)
|
|
|
NM_016239.4(MYO15A):c.7620T>C (p.Pro2540=)
|
|
|
NM_016239.4(MYO15A):c.7623_7624insA (p.Leu2542fs)
|
|
|
NM_016239.4(MYO15A):c.762C>G (p.Tyr254Ter)
|
|
|
NM_016239.4(MYO15A):c.7644T>C (p.Ser2548=)
|
|
|
NM_016239.4(MYO15A):c.7654+14C>T
|
|
|
NM_016239.4(MYO15A):c.7654+15C>A
|
|
|
NM_016239.4(MYO15A):c.7654+7G>A
|
|
|
NM_016239.4(MYO15A):c.7655-11C>T
|
|
|
NM_016239.4(MYO15A):c.7655-12C>A
|
|
|
NM_016239.4(MYO15A):c.7655-12C>T
|
|
|
NM_016239.4(MYO15A):c.7655-15G>A
|
|
|
NM_016239.4(MYO15A):c.7655-18C>G
|
|
|
NM_016239.4(MYO15A):c.7655-18C>T
|
|
|
NM_016239.4(MYO15A):c.7659A>C (p.Ser2553=)
|
|
|
NM_016239.4(MYO15A):c.765G>A (p.Glu255=)
|
|
|
NM_016239.4(MYO15A):c.7689G>A (p.Thr2563=)
|
|
|
NM_016239.4(MYO15A):c.7699G>A (p.Glu2567Lys)
|
|
|
NM_016239.4(MYO15A):c.7704C>T (p.His2568=)
|
|
|
NM_016239.4(MYO15A):c.7707C>T (p.Phe2569=)
|
|
|
NM_016239.4(MYO15A):c.7713G>A (p.Gln2571=)
|
|
|
NM_016239.4(MYO15A):c.7722G>A (p.Gln2574=)
|
|
|
NM_016239.4(MYO15A):c.7734T>C (p.Asn2578=)
|
|
|
NM_016239.4(MYO15A):c.7758G>T (p.Pro2586=)
|
|
|
NM_016239.4(MYO15A):c.7761C>T (p.Phe2587=)
|
|
|
NM_016239.4(MYO15A):c.7770C>G (p.Gly2590=)
|
|
|
NM_016239.4(MYO15A):c.7772G>A (p.Arg2591Gln)
|
|
|
NM_016239.4(MYO15A):c.7773G>A (p.Arg2591=)
|
|
|
NM_016239.4(MYO15A):c.777C>T (p.Pro259=)
|
|
|
NM_016239.4(MYO15A):c.7787+10G>A
|
|
|
NM_016239.4(MYO15A):c.7787+2T>A
|
|
|
NM_016239.4(MYO15A):c.7788-11A>C
|
|
|
NM_016239.4(MYO15A):c.7788-8G>A
|
|
|
NM_016239.4(MYO15A):c.7797C>T (p.Gly2599=)
|
|
|
NM_016239.4(MYO15A):c.7815G>A (p.Lys2605=)
|
|
|
NM_016239.4(MYO15A):c.7833G>A (p.Glu2611=)
|
rs727504816
|
|
NM_016239.4(MYO15A):c.7836G>A (p.Glu2612=)
|
|
|
NM_016239.4(MYO15A):c.783G>A (p.Leu261=)
|
|
|
NM_016239.4(MYO15A):c.7853A>C (p.Lys2618Thr)
|
|
|
NM_016239.4(MYO15A):c.7878T>C (p.Ala2626=)
|
|
|
NM_016239.4(MYO15A):c.7893+10del
|
|
|
NM_016239.4(MYO15A):c.7893+12A>C
|
|
|
NM_016239.4(MYO15A):c.7893+13G>A
|
|
|
NM_016239.4(MYO15A):c.7893+14G>T
|
|
|
NM_016239.4(MYO15A):c.7893+17G>A
|
|
|
NM_016239.4(MYO15A):c.7893+18G>A
|
|
|
NM_016239.4(MYO15A):c.7893+19G>A
|
|
|
NM_016239.4(MYO15A):c.7893+7G>A
|
|
|
NM_016239.4(MYO15A):c.7893+9G>A
|
|
|
NM_016239.4(MYO15A):c.7894-17T>C
|
|
|
NM_016239.4(MYO15A):c.7894-5G>A
|
|
|
NM_016239.4(MYO15A):c.7894-9G>A
|
|
|
NM_016239.4(MYO15A):c.7905G>A (p.Glu2635=)
|
|
|
NM_016239.4(MYO15A):c.7911G>A (p.Val2637=)
|
|
|
NM_016239.4(MYO15A):c.7920G>A (p.Val2640=)
|
|
|
NM_016239.4(MYO15A):c.792C>T (p.Leu264=)
|
|
|
NM_016239.4(MYO15A):c.793G>C (p.Gly265Arg)
|
|
|
NM_016239.4(MYO15A):c.795C>T (p.Gly265=)
|
|
|
NM_016239.4(MYO15A):c.7960A>G (p.Thr2654Ala)
|
|
|
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser)
|
rs200355614
|
|
NM_016239.4(MYO15A):c.7961C>T (p.Thr2654Ile)
|
|
|
NM_016239.4(MYO15A):c.7966+16G>A
|
|
|
NM_016239.4(MYO15A):c.7966+22dup
|
rs1273383100
|
|
NM_016239.4(MYO15A):c.7967-14C>T
|
|
|
NM_016239.4(MYO15A):c.7967-17A>G
|
|
|
NM_016239.4(MYO15A):c.7967-1G>C
|
|
|
NM_016239.4(MYO15A):c.7967-2A>T
|
rs2142376390
|
|
NM_016239.4(MYO15A):c.7968T>G (p.Ala2656=)
|
|
|
NM_016239.4(MYO15A):c.7976C>A (p.Ser2659Ter)
|
|
|
NM_016239.4(MYO15A):c.7992C>T (p.Pro2664=)
|
|
|
NM_016239.4(MYO15A):c.7995T>C (p.Pro2665=)
|
|
|
NM_016239.4(MYO15A):c.8001A>G (p.Glu2667=)
|
|
|
NM_016239.4(MYO15A):c.8013G>A (p.Thr2671=)
|
|
|
NM_016239.4(MYO15A):c.8046C>G (p.Tyr2682Ter)
|
|
|
NM_016239.4(MYO15A):c.8047G>A (p.Gly2683Ser)
|
|
|
NM_016239.4(MYO15A):c.8059G>T (p.Ala2687Ser)
|
|
|
NM_016239.4(MYO15A):c.8061C>T (p.Ala2687=)
|
|
|
NM_016239.4(MYO15A):c.8079G>T (p.Leu2693=)
|
|
|
NM_016239.4(MYO15A):c.8083A>G (p.Lys2695Glu)
|
|
|
NM_016239.4(MYO15A):c.8088+10A>G
|
|
|
NM_016239.4(MYO15A):c.8088+19G>A
|
rs767385273
|
|
NM_016239.4(MYO15A):c.8088+19G>C
|
|
|
NM_016239.4(MYO15A):c.8088+1G>C
|
|
|
NM_016239.4(MYO15A):c.8088+5C>G
|
rs9916193
|
|
NM_016239.4(MYO15A):c.8088+7A>G
|
|
|
NM_016239.4(MYO15A):c.8091G>A (p.Val2697=)
|
|
|
NM_016239.4(MYO15A):c.8103G>A (p.Lys2701=)
|
|
|
NM_016239.4(MYO15A):c.8109C>T (p.Ser2703=)
|
|
|
NM_016239.4(MYO15A):c.8125C>T (p.Gln2709Ter)
|
|
|
NM_016239.4(MYO15A):c.8139G>T (p.Leu2713=)
|
|
|
NM_016239.4(MYO15A):c.8147A>G (p.Gln2716Arg)
|
rs756607995
|
|
NM_016239.4(MYO15A):c.8148+10T>C
|
|
|
NM_016239.4(MYO15A):c.8148+12T>A
|
|
|
NM_016239.4(MYO15A):c.8148+13C>G
|
|
|
NM_016239.4(MYO15A):c.8148+17C>G
|
|
|
NM_016239.4(MYO15A):c.8148+8C>T
|
|
|
NM_016239.4(MYO15A):c.8149-10G>A
|
|
|
NM_016239.4(MYO15A):c.8149-17A>T
|
|
|
NM_016239.4(MYO15A):c.8161A>C (p.Thr2721Pro)
|
|
|
NM_016239.4(MYO15A):c.8163G>A (p.Thr2721=)
|
|
|
NM_016239.4(MYO15A):c.8169C>A (p.Ser2723=)
|
|
|
NM_016239.4(MYO15A):c.8169C>T (p.Ser2723=)
|
|
|
NM_016239.4(MYO15A):c.8182C>G (p.Arg2728Gly)
|
|
|
NM_016239.4(MYO15A):c.8222T>C (p.Phe2741Ser)
|
|
|
NM_016239.4(MYO15A):c.8224+12G>A
|
|
|
NM_016239.4(MYO15A):c.8224+22del
|
|
|
NM_016239.4(MYO15A):c.8224+8G>A
|
|
|
NM_016239.4(MYO15A):c.8225-15C>A
|
|
|
NM_016239.4(MYO15A):c.8225-17G>C
|
|
|
NM_016239.4(MYO15A):c.8225-2A>C
|
|
|
NM_016239.4(MYO15A):c.8225-9C>T
|
|
|
NM_016239.4(MYO15A):c.8232C>A (p.Asn2744Lys)
|
|
|
NM_016239.4(MYO15A):c.823G>A (p.Gly275Ser)
|
rs183969516
|
|
NM_016239.4(MYO15A):c.8241C>T (p.Asp2747=)
|
|
|
NM_016239.4(MYO15A):c.8261C>T (p.Thr2754Met)
|
rs766544188
|
|
NM_016239.4(MYO15A):c.8275C>T (p.Arg2759Trp)
|
|
|
NM_016239.4(MYO15A):c.8276G>A (p.Arg2759Gln)
|
|
|
NM_016239.4(MYO15A):c.8277G>A (p.Arg2759=)
|
|
|
NM_016239.4(MYO15A):c.8280C>G (p.Ala2760=)
|
|
|
NM_016239.4(MYO15A):c.8280C>T (p.Ala2760=)
|
|
|
NM_016239.4(MYO15A):c.8304C>T (p.Thr2768=)
|
|
|
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del)
|
rs1555546699
|
|
NM_016239.4(MYO15A):c.831C>T (p.His277=)
|
|
|
NM_016239.4(MYO15A):c.8323C>T (p.Arg2775Cys)
|
|
|
NM_016239.4(MYO15A):c.8331C>T (p.Phe2777=)
|
|
|
NM_016239.4(MYO15A):c.8340+12T>A
|
|
|
NM_016239.4(MYO15A):c.8340+13C>T
|
|
|
NM_016239.4(MYO15A):c.8340+15C>G
|
|
|
NM_016239.4(MYO15A):c.8340+18del
|
|
|
NM_016239.4(MYO15A):c.8340+23del
|
|
|
NM_016239.4(MYO15A):c.8340+4C>T
|
|
|
NM_016239.4(MYO15A):c.8341-11C>T
|
|
|
NM_016239.4(MYO15A):c.8341-15T>C
|
|
|
NM_016239.4(MYO15A):c.8341-20G>A
|
|
|
NM_016239.4(MYO15A):c.8363del (p.Gln2788fs)
|
rs2142381999
|
|
NM_016239.4(MYO15A):c.8368C>T (p.Leu2790=)
|
|
|
NM_016239.4(MYO15A):c.837C>G (p.Tyr279Ter)
|
|
|
NM_016239.4(MYO15A):c.8382C>T (p.His2794=)
|
|
|
NM_016239.4(MYO15A):c.8383G>A (p.Val2795Met)
|
|
|
NM_016239.4(MYO15A):c.8387G>A (p.Gly2796Asp)
|
|
|
NM_016239.4(MYO15A):c.8400G>A (p.Leu2800=)
|
|
|
NM_016239.4(MYO15A):c.8403G>A (p.Arg2801=)
|
|
|
NM_016239.4(MYO15A):c.8418C>T (p.Gly2806=)
|
|
|
NM_016239.4(MYO15A):c.8427C>T (p.Ala2809=)
|
|
|
NM_016239.4(MYO15A):c.8430C>T (p.Gly2810=)
|
|
|
NM_016239.4(MYO15A):c.843C>A (p.Tyr281Ter)
|
|
|
NM_016239.4(MYO15A):c.8442G>A (p.Arg2814=)
|
|
|
NM_016239.4(MYO15A):c.8445C>G (p.Val2815=)
|
|
|
NM_016239.4(MYO15A):c.8454A>C (p.Ala2818=)
|
|
|
NM_016239.4(MYO15A):c.8457C>G (p.Tyr2819Ter)
|
|
|
NM_016239.4(MYO15A):c.8459+14G>T
|
|
|
NM_016239.4(MYO15A):c.8459+8G>A
|
|
|
NM_016239.4(MYO15A):c.8459+9C>G
|
|
|
NM_016239.4(MYO15A):c.8460-10C>T
|
|
|
NM_016239.4(MYO15A):c.8460-9A>G
|
|
|
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn)
|
rs878853238
|
|
NM_016239.4(MYO15A):c.8490C>T (p.Pro2830=)
|
|
|
NM_016239.4(MYO15A):c.8499C>T (p.Asn2833=)
|
|
|
NM_016239.4(MYO15A):c.849C>G (p.Pro283=)
|
|
|
NM_016239.4(MYO15A):c.849C>T (p.Pro283=)
|
|
|
NM_016239.4(MYO15A):c.84G>T (p.Arg28=)
|
|
|
NM_016239.4(MYO15A):c.8505G>C (p.Leu2835=)
|
|
|
NM_016239.4(MYO15A):c.8513A>C (p.Asn2838Thr)
|
|
|
NM_016239.4(MYO15A):c.8521A>G (p.Ser2841Gly)
|
|
|
NM_016239.4(MYO15A):c.8529G>A (p.Lys2843=)
|
|
|
NM_016239.4(MYO15A):c.852G>A (p.Glu284=)
|
|
|
NM_016239.4(MYO15A):c.8538C>T (p.Leu2846=)
|
|
|
NM_016239.4(MYO15A):c.8550A>G (p.Arg2850=)
|
|
|
NM_016239.4(MYO15A):c.8553G>A (p.Ala2851=)
|
|
|
NM_016239.4(MYO15A):c.8559G>C (p.Gln2853His)
|
|
|
NM_016239.4(MYO15A):c.855dup (p.Pro286fs)
|
rs2045868233
|
|
NM_016239.4(MYO15A):c.8568C>T (p.Thr2856=)
|
|
|
NM_016239.4(MYO15A):c.8571G>C (p.Leu2857=)
|
|
|
NM_016239.4(MYO15A):c.8580C>T (p.Asp2860=)
|
|
|
NM_016239.4(MYO15A):c.8583C>T (p.Phe2861=)
|
|
|
NM_016239.4(MYO15A):c.8586C>T (p.Ile2862=)
|
|
|
NM_016239.4(MYO15A):c.8587T>C (p.Leu2863=)
|
|
|
NM_016239.4(MYO15A):c.8592G>A (p.Glu2864=)
|
|
|
NM_016239.4(MYO15A):c.8601+12C>T
|
|
|
NM_016239.4(MYO15A):c.8601+20T>A
|
|
|
NM_016239.4(MYO15A):c.8602-10G>A
|
|
|
NM_016239.4(MYO15A):c.8602-16C>A
|
|
|
NM_016239.4(MYO15A):c.8602-22_8602-13del
|
|
|
NM_016239.4(MYO15A):c.8602-2A>G
|
|
|
NM_016239.4(MYO15A):c.8602-8T>C
|
|
|
NM_016239.4(MYO15A):c.8602-8_8602-5del
|
rs876657907
|
|
NM_016239.4(MYO15A):c.8619C>T (p.Val2873=)
|
|
|
NM_016239.4(MYO15A):c.861C>G (p.Tyr287Ter)
|
|
|
NM_016239.4(MYO15A):c.861C>T (p.Tyr287=)
|
|
|
NM_016239.4(MYO15A):c.8637G>A (p.Leu2879=)
|
|
|
NM_016239.4(MYO15A):c.8649T>C (p.Pro2883=)
|
|
|
NM_016239.4(MYO15A):c.864C>T (p.Asp288=)
|
|
|
NM_016239.4(MYO15A):c.8653C>T (p.Leu2885=)
|
|
|
NM_016239.4(MYO15A):c.8655dup (p.Leu2886fs)
|
|
|
NM_016239.4(MYO15A):c.8661T>C (p.Ala2887=)
|
|
|
NM_016239.4(MYO15A):c.8679C>T (p.Ile2893=)
|
|
|
NM_016239.4(MYO15A):c.867C>G (p.Tyr289Ter)
|
|
|
NM_016239.4(MYO15A):c.8685C>T (p.His2895=)
|
|
|
NM_016239.4(MYO15A):c.8691G>A (p.Gln2897=)
|
|
|
NM_016239.4(MYO15A):c.8713+11C>A
|
|
|
NM_016239.4(MYO15A):c.8713+14G>C
|
|
|
NM_016239.4(MYO15A):c.8713+16del
|
|
|
NM_016239.4(MYO15A):c.8713+19G>C
|
|
|
NM_016239.4(MYO15A):c.8713+5G>C
|
|
|
NM_016239.4(MYO15A):c.8714-15G>A
|
|
|
NM_016239.4(MYO15A):c.8714-16C>T
|
|
|
NM_016239.4(MYO15A):c.8714-7C>A
|
|
|
NM_016239.4(MYO15A):c.8718C>T (p.Tyr2906=)
|
|
|
NM_016239.4(MYO15A):c.8730C>T (p.Cys2910=)
|
|
|
NM_016239.4(MYO15A):c.8739C>T (p.Arg2913=)
|
|
|
NM_016239.4(MYO15A):c.8750T>C (p.Val2917Ala)
|
|
|
NM_016239.4(MYO15A):c.8751G>A (p.Val2917=)
|
|
|
NM_016239.4(MYO15A):c.876C>A (p.Pro292=)
|
|
|
NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His)
|
|
|
NM_016239.4(MYO15A):c.8782G>A (p.Asp2928Asn)
|
|
|
NM_016239.4(MYO15A):c.8788+10C>T
|
|
|
NM_016239.4(MYO15A):c.8788+11C>T
|
|
|
NM_016239.4(MYO15A):c.8788+19G>A
|
|
|
NM_016239.4(MYO15A):c.8789-1G>A
|
|
|
NM_016239.4(MYO15A):c.8789-3dup
|
|
|
NM_016239.4(MYO15A):c.8789-4C>A
|
|
|
NM_016239.4(MYO15A):c.8789-4C>T
|
|
|
NM_016239.4(MYO15A):c.8789-6C>T
|
|
|
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs)
|
rs2142388348
|
|
NM_016239.4(MYO15A):c.8817C>T (p.Arg2939=)
|
|
|
NM_016239.4(MYO15A):c.8823C>A (p.Gly2941=)
|
|
|
NM_016239.4(MYO15A):c.8824C>T (p.Arg2942Cys)
|
|
|
NM_016239.4(MYO15A):c.8832T>G (p.Pro2944=)
|
|
|
NM_016239.4(MYO15A):c.8835G>A (p.Ser2945=)
|
|
|
NM_016239.4(MYO15A):c.8850C>A (p.Pro2950=)
|
|
|
NM_016239.4(MYO15A):c.8850C>T (p.Pro2950=)
|
|
|
NM_016239.4(MYO15A):c.8862C>G (p.Pro2954=)
|
|
|
NM_016239.4(MYO15A):c.8862C>T (p.Pro2954=)
|
|
|
NM_016239.4(MYO15A):c.8862del (p.Asp2955fs)
|
|
|
NM_016239.4(MYO15A):c.8875C>T (p.Leu2959=)
|
|
|
NM_016239.4(MYO15A):c.887del (p.Gly296fs)
|
|
|
NM_016239.4(MYO15A):c.8883G>A (p.Thr2961=)
|
|
|
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs)
|
rs2046704290
|
|
NM_016239.4(MYO15A):c.8907C>T (p.Ala2969=)
|
rs727504611
|
|
NM_016239.4(MYO15A):c.8910C>G (p.Ala2970=)
|
|
|
NM_016239.4(MYO15A):c.8910_8939del (p.Val2971_Ala2980del)
|
rs752936351
|
|
NM_016239.4(MYO15A):c.8916C>T (p.Ala2972=)
|
|
|
NM_016239.4(MYO15A):c.8926G>T (p.Ala2976Ser)
|
|
|
NM_016239.4(MYO15A):c.8927C>G (p.Ala2976Gly)
|
|
|
NM_016239.4(MYO15A):c.8928C>T (p.Ala2976=)
|
|
|
NM_016239.4(MYO15A):c.8940dup (p.Ala2981fs)
|
rs1340142756
|
|
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter)
|
rs774312110
|
|
NM_016239.4(MYO15A):c.894C>G (p.Pro298=)
|
rs199858487
|
|
NM_016239.4(MYO15A):c.894C>T (p.Pro298=)
|
|
|
NM_016239.4(MYO15A):c.8958C>T (p.Arg2986=)
|
|
|
NM_016239.4(MYO15A):c.8959A>C (p.Arg2987=)
|
|
|
NM_016239.4(MYO15A):c.8961G>A (p.Arg2987=)
|
|
|
NM_016239.4(MYO15A):c.8967+11T>C
|
|
|
NM_016239.4(MYO15A):c.8967+14GGGTG[3]
|
|
|
NM_016239.4(MYO15A):c.8967+15G>C
|
|
|
NM_016239.4(MYO15A):c.8967+19G>A
|
|
|
NM_016239.4(MYO15A):c.8967+20G>A
|
|
|
NM_016239.4(MYO15A):c.8967+20G>C
|
|
|
NM_016239.4(MYO15A):c.8967+21del
|
|
|
NM_016239.4(MYO15A):c.8967+8C>A
|
|
|
NM_016239.4(MYO15A):c.8968-12C>T
|
|
|
NM_016239.4(MYO15A):c.8968-15C>T
|
|
|
NM_016239.4(MYO15A):c.8968-2A>G
|
|
|
NM_016239.4(MYO15A):c.8968-4G>T
|
|
|
NM_016239.4(MYO15A):c.8968-7T>C
|
|
|
NM_016239.4(MYO15A):c.8968-8T>G
|
|
|
NM_016239.4(MYO15A):c.8973C>T (p.Pro2991=)
|
|
|
NM_016239.4(MYO15A):c.8979C>G (p.Val2993=)
|
|
|
NM_016239.4(MYO15A):c.9003G>T (p.Gly3001=)
|
|
|
NM_016239.4(MYO15A):c.9009C>T (p.Asp3003=)
|
|
|
NM_016239.4(MYO15A):c.9024A>T (p.Pro3008=)
|
|
|
NM_016239.4(MYO15A):c.902C>T (p.Pro301Leu)
|
|
|
NM_016239.4(MYO15A):c.903G>A (p.Pro301=)
|
|
|
NM_016239.4(MYO15A):c.9054G>T (p.Lys3018Asn)
|
|
|
NM_016239.4(MYO15A):c.9076A>C (p.Arg3026=)
|
|
|
NM_016239.4(MYO15A):c.9081C>G (p.Pro3027=)
|
|
|
NM_016239.4(MYO15A):c.9083+10G>A
|
|
|
NM_016239.4(MYO15A):c.9083+11G>A
|
|
|
NM_016239.4(MYO15A):c.9083+14C>A
|
|
|
NM_016239.4(MYO15A):c.9083+14C>G
|
|
|
NM_016239.4(MYO15A):c.9083+14C>T
|
|
|
NM_016239.4(MYO15A):c.9083+18C>A
|
|
|
NM_016239.4(MYO15A):c.9083+19C>T
|
|
|
NM_016239.4(MYO15A):c.9083+1G>C
|
|
|
NM_016239.4(MYO15A):c.9083+7G>A
|
rs886052681
|
|
NM_016239.4(MYO15A):c.9083+8G>A
|
|
|
NM_016239.4(MYO15A):c.9083dup (p.Asp3029fs)
|
|
|
NM_016239.4(MYO15A):c.9084-17C>T
|
|
|
NM_016239.4(MYO15A):c.9084-19C>T
|
|
|
NM_016239.4(MYO15A):c.90G>A (p.Leu30=)
|
|
|
NM_016239.4(MYO15A):c.9109G>T (p.Glu3037Ter)
|
rs2046732267
|
|
NM_016239.4(MYO15A):c.9129C>T (p.Thr3043=)
|
|
|
NM_016239.4(MYO15A):c.9156+11C>T
|
|
|
NM_016239.4(MYO15A):c.9156+12C>T
|
|
|
NM_016239.4(MYO15A):c.9156+13G>A
|
|
|
NM_016239.4(MYO15A):c.9156+13G>C
|
|
|
NM_016239.4(MYO15A):c.9156+16C>T
|
|
|
NM_016239.4(MYO15A):c.9156+1G>A
|
|
|
NM_016239.4(MYO15A):c.9157-19C>T
|
|
|
NM_016239.4(MYO15A):c.9157-1G>A
|
|
|
NM_016239.4(MYO15A):c.9157-4A>G
|
|
|
NM_016239.4(MYO15A):c.9157-5dup
|
|
|
NM_016239.4(MYO15A):c.9157-6C>T
|
|
|
NM_016239.4(MYO15A):c.9157-9C>A
|
rs886052682
|
|
NM_016239.4(MYO15A):c.9157-9C>T
|
|
|
NM_016239.4(MYO15A):c.9162C>T (p.Pro3054=)
|
|
|
NM_016239.4(MYO15A):c.9163C>A (p.Leu3055Ile)
|
rs2142393163
|
|
NM_016239.4(MYO15A):c.9165C>T (p.Leu3055=)
|
|
|
NM_016239.4(MYO15A):c.9172T>C (p.Ser3058Pro)
|
|
|
NM_016239.4(MYO15A):c.9183A>G (p.Glu3061=)
|
|
|
NM_016239.4(MYO15A):c.9189C>T (p.Ser3063=)
|
|
|
NM_016239.4(MYO15A):c.9190G>C (p.Asp3064His)
|
rs182977390
|
|
NM_016239.4(MYO15A):c.9216C>T (p.Thr3072=)
|
|
|
NM_016239.4(MYO15A):c.9229+10T>A
|
|
|
NM_016239.4(MYO15A):c.9229+19A>G
|
|
|
NM_016239.4(MYO15A):c.9229+1G>A
|
|
|
NM_016239.4(MYO15A):c.9229+2T>C
|
rs1057519606
|
|
NM_016239.4(MYO15A):c.9230-11C>A
|
rs2142394163
|
|
NM_016239.4(MYO15A):c.9230-14G>A
|
|
|
NM_016239.4(MYO15A):c.9230-1G>A
|
|
|
NM_016239.4(MYO15A):c.927C>T (p.Tyr309=)
|
|
|
NM_016239.4(MYO15A):c.9282C>T (p.Asp3094=)
|
|
|
NM_016239.4(MYO15A):c.9283G>A (p.Val3095Met)
|
|
|
NM_016239.4(MYO15A):c.92del (p.Lys31fs)
|
|
|
NM_016239.4(MYO15A):c.9303+13A>G
|
|
|
NM_016239.4(MYO15A):c.9303+14A>G
|
|
|
NM_016239.4(MYO15A):c.9303+5G>A
|
rs1555547215
|
|
NM_016239.4(MYO15A):c.9304-10C>G
|
|
|
NM_016239.4(MYO15A):c.9304-14C>T
|
|
|
NM_016239.4(MYO15A):c.9304-19C>T
|
|
|
NM_016239.4(MYO15A):c.9304-6dup
|
|
|
NM_016239.4(MYO15A):c.9304-8C>T
|
|
|
NM_016239.4(MYO15A):c.9306G>A (p.Leu3102=)
|
|
|
NM_016239.4(MYO15A):c.9309C>T (p.Cys3103=)
|
|
|
NM_016239.4(MYO15A):c.933T>C (p.Asp311=)
|
|
|
NM_016239.4(MYO15A):c.9342C>T (p.Tyr3114=)
|
|
|
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)
|
|
|
NM_016239.4(MYO15A):c.936C>T (p.Tyr312=)
|
|
|
NM_016239.4(MYO15A):c.9386+16T>C
|
|
|
NM_016239.4(MYO15A):c.939A>G (p.Glu313=)
|
|
|
NM_016239.4(MYO15A):c.93G>A (p.Lys31=)
|
|
|
NM_016239.4(MYO15A):c.9453C>T (p.Val3151=)
|
|
|
NM_016239.4(MYO15A):c.9465C>T (p.His3155=)
|
|
|
NM_016239.4(MYO15A):c.9469dup (p.Thr3157fs)
|
rs2142399174
|
|
NM_016239.4(MYO15A):c.9471T>G (p.Thr3157=)
|
|
|
NM_016239.4(MYO15A):c.9474C>T (p.Arg3158=)
|
|
|
NM_016239.4(MYO15A):c.9480C>G (p.Leu3160=)
|
|
|
NM_016239.4(MYO15A):c.9493C>T (p.Arg3165Trp)
|
|
|
NM_016239.4(MYO15A):c.950C>T (p.Ala317Val)
|
|
|
NM_016239.4(MYO15A):c.9517+7G>A
|
|
|
NM_016239.4(MYO15A):c.9518-2A>G
|
|
|
NM_016239.4(MYO15A):c.9519G>T (p.Gly3173=)
|
|
|
NM_016239.4(MYO15A):c.951G>A (p.Ala317=)
|
|
|
NM_016239.4(MYO15A):c.9525C>A (p.Ala3175=)
|
|
|
NM_016239.4(MYO15A):c.9534C>T (p.Cys3178=)
|
|
|
NM_016239.4(MYO15A):c.9564C>T (p.Phe3188=)
|
|
|
NM_016239.4(MYO15A):c.956dup (p.Ser320fs)
|
|
|
NM_016239.4(MYO15A):c.9571C>G (p.Arg3191Gly)
|
|
|
NM_016239.4(MYO15A):c.9571C>T (p.Arg3191Cys)
|
|
|
NM_016239.4(MYO15A):c.9576G>A (p.Leu3192=)
|
|
|
NM_016239.4(MYO15A):c.957G>A (p.Pro319=)
|
|
|
NM_016239.4(MYO15A):c.9587G>A (p.Ser3196Asn)
|
|
|
NM_016239.4(MYO15A):c.9597G>A (p.Glu3199=)
|
|
|
NM_016239.4(MYO15A):c.9604G>A (p.Ala3202Thr)
|
|
|
NM_016239.4(MYO15A):c.960G>A (p.Ser320=)
|
|
|
NM_016239.4(MYO15A):c.9612+11G>C
|
|
|
NM_016239.4(MYO15A):c.9612+8T>C
|
|
|
NM_016239.4(MYO15A):c.9613-11A>G
|
|
|
NM_016239.4(MYO15A):c.9613-11A>T
|
|
|
NM_016239.4(MYO15A):c.9613-15A>G
|
|
|
NM_016239.4(MYO15A):c.9613-20C>G
|
|
|
NM_016239.4(MYO15A):c.9613-20C>T
|
|
|
NM_016239.4(MYO15A):c.9621C>A (p.Arg3207=)
|
|
|
NM_016239.4(MYO15A):c.962G>C (p.Gly321Ala)
|
|
|
NM_016239.4(MYO15A):c.963G>A (p.Gly321=)
|
|
|
NM_016239.4(MYO15A):c.9666C>T (p.Arg3222=)
|
|
|
NM_016239.4(MYO15A):c.9673A>G (p.Lys3225Glu)
|
|
|
NM_016239.4(MYO15A):c.9676dup (p.Ile3226fs)
|
|
|
NM_016239.4(MYO15A):c.9678C>T (p.Ile3226=)
|
|
|
NM_016239.4(MYO15A):c.968dup (p.Ser324fs)
|
|
|
NM_016239.4(MYO15A):c.9690+17C>G
|
|
|
NM_016239.4(MYO15A):c.9690+19C>T
|
|
|
NM_016239.4(MYO15A):c.9690+1G>A
|
rs2142404134
|
|
NM_016239.4(MYO15A):c.9690+20C>A
|
|
|
NM_016239.4(MYO15A):c.9691-14C>T
|
|
|
NM_016239.4(MYO15A):c.9691-15C>T
|
|
|
NM_016239.4(MYO15A):c.969G>C (p.Ser323=)
|
|
|
NM_016239.4(MYO15A):c.9717A>T (p.Ile3239=)
|
|
|
NM_016239.4(MYO15A):c.9733C>T (p.Leu3245=)
|
|
|
NM_016239.4(MYO15A):c.9738A>C (p.Thr3246=)
|
|
|
NM_016239.4(MYO15A):c.9741C>A (p.Arg3247=)
|
rs752368160
|
|
NM_016239.4(MYO15A):c.9756T>C (p.Asn3252=)
|
|
|
NM_016239.4(MYO15A):c.9767T>C (p.Ile3256Thr)
|
|
|
NM_016239.4(MYO15A):c.9771C>T (p.Phe3257=)
|
|
|
NM_016239.4(MYO15A):c.9775_9787+8del
|
|
|
NM_016239.4(MYO15A):c.9778_9784del (p.Thr3260fs)
|
|
|
NM_016239.4(MYO15A):c.9780C>A (p.Thr3260=)
|
|
|
NM_016239.4(MYO15A):c.9783C>T (p.Asn3261=)
|
|
|
NM_016239.4(MYO15A):c.9785G>C (p.Arg3262Pro)
|
rs368106470
|
|
NM_016239.4(MYO15A):c.9787+12G>A
|
|
|
NM_016239.4(MYO15A):c.9787+13A>C
|
|
|
NM_016239.4(MYO15A):c.9787+19G>A
|
|
|
NM_016239.4(MYO15A):c.9788-10CT[2]
|
|
|
NM_016239.4(MYO15A):c.9788-12T>C
|
|
|
NM_016239.4(MYO15A):c.9788-19G>A
|
|
|
NM_016239.4(MYO15A):c.9788-20T>A
|
|
|
NM_016239.4(MYO15A):c.9788-4G>A
|
|
|
NM_016239.4(MYO15A):c.9798G>A (p.Val3266=)
|
|
|
NM_016239.4(MYO15A):c.9798G>C (p.Val3266=)
|
|
|
NM_016239.4(MYO15A):c.9807C>G (p.Leu3269=)
|
|
|
NM_016239.4(MYO15A):c.9811C>T (p.Arg3271Cys)
|
|
|
NM_016239.4(MYO15A):c.9849G>A (p.Glu3283=)
|
|
|
NM_016239.4(MYO15A):c.9858C>T (p.Asp3286=)
|
|
|
NM_016239.4(MYO15A):c.9864C>T (p.Gly3288=)
|
|
|
NM_016239.4(MYO15A):c.9873C>G (p.Leu3291=)
|
|
|
NM_016239.4(MYO15A):c.9876G>A (p.Trp3292Ter)
|
rs779093807
|
|
NM_016239.4(MYO15A):c.9876G>T (p.Trp3292Cys)
|
|
|
NM_016239.4(MYO15A):c.987C>T (p.His329=)
|
|
|
NM_016239.4(MYO15A):c.9882G>A (p.Arg3294=)
|
|
|
NM_016239.4(MYO15A):c.9884G>A (p.Arg3295His)
|
|
|
NM_016239.4(MYO15A):c.9891C>T (p.Leu3297=)
|
|
|
NM_016239.4(MYO15A):c.9899del (p.Gln3300fs)
|
|
|
NM_016239.4(MYO15A):c.9909del (p.Lys3303fs)
|
|
|
NM_016239.4(MYO15A):c.9913G>C (p.Glu3305Gln)
|
|
|
NM_016239.4(MYO15A):c.9915G>A (p.Glu3305=)
|
|
|
NM_016239.4(MYO15A):c.9921G>A (p.Glu3307=)
|
|
|
NM_016239.4(MYO15A):c.9924A>G (p.Leu3308=)
|
|
|
NM_016239.4(MYO15A):c.9938A>G (p.His3313Arg)
|
|
|
NM_016239.4(MYO15A):c.9948+10C>T
|
|
|
NM_016239.4(MYO15A):c.9948+11G>A
|
rs200712715
|
|
NM_016239.4(MYO15A):c.9948+11G>C
|
rs200712715
|
|
NM_016239.4(MYO15A):c.9948+1G>A
|
|
|
NM_016239.4(MYO15A):c.9948+7A>C
|
|
|
NM_016239.4(MYO15A):c.9948+7A>T
|
|
|
NM_016239.4(MYO15A):c.9949-10C>T
|
|
|
NM_016239.4(MYO15A):c.9949-13G>A
|
|
|
NM_016239.4(MYO15A):c.9949-20C>T
|
|
|
NM_016239.4(MYO15A):c.9951C>G (p.Val3317=)
|
|
|
NM_016239.4(MYO15A):c.9951C>T (p.Val3317=)
|
|
|
NM_016239.4(MYO15A):c.9952del (p.Leu3318fs)
|
|
|
NM_016239.4(MYO15A):c.9954G>C (p.Leu3318=)
|
|
|
NM_016239.4(MYO15A):c.9957T>G (p.Pro3319=)
|
|
|
NM_016239.4(MYO15A):c.9984T>C (p.Ser3328=)
|
rs748890115
|
|
NM_016239.4(MYO15A):c.9990G>A (p.Pro3330=)
|
|
|
NM_016239.4(MYO15A):c.9990G>C (p.Pro3330=)
|
|
|
NM_016239.4(MYO15A):c.9995_10002dup (p.Ser3335fs)
|
|
|
NM_016239.4(MYO15A):c.99G>A (p.Thr33=)
|
|
|
NM_016239.4(MYO15A):c.9G>A (p.Lys3=)
|
|
|