NM_017433.5(MYO3A):c.3398+230T>C
|
rs10741107
|
0.84111
|
NM_017433.5(MYO3A):c.168+249G>A
|
rs7923691
|
0.72009
|
NM_017433.5(MYO3A):c.2716-29G>A
|
rs3818956
|
0.70675
|
NM_017433.5(MYO3A):c.1105G>A (p.Val369Ile)
|
rs3817420
|
0.69434
|
NM_017433.5(MYO3A):c.1042A>G (p.Ile348Val)
|
rs3824699
|
0.68769
|
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser)
|
rs1999240
|
0.60118
|
NM_017433.5(MYO3A):c.3399-129T>A
|
rs1330575
|
0.58041
|
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn)
|
rs3758449
|
0.51636
|
NM_017433.5(MYO3A):c.1360-253A>G
|
rs11812518
|
0.48224
|
NM_017433.5(MYO3A):c.1054-299G>C
|
rs12773390
|
0.47644
|
NM_017433.5(MYO3A):c.1053+191A>T
|
rs61846589
|
0.47639
|
NM_017433.5(MYO3A):c.1053+63C>T
|
rs3824695
|
0.47635
|
NM_017433.5(MYO3A):c.1171-127G>A
|
rs3758443
|
0.47633
|
NM_017433.5(MYO3A):c.1170+7C>T
|
rs3817419
|
0.47630
|
NM_017433.5(MYO3A):c.956G>A (p.Arg319His)
|
rs3824700
|
0.47622
|
NM_017433.5(MYO3A):c.1053+34C>T
|
rs3824696
|
0.47612
|
NM_017433.5(MYO3A):c.954-133C>A
|
rs3824703
|
0.47612
|
NM_017433.5(MYO3A):c.1170+188G>C
|
rs7095515
|
0.47605
|
NM_017433.5(MYO3A):c.1171-342C>G
|
rs12248210
|
0.47601
|
NM_017433.5(MYO3A):c.1171-168T>C
|
rs3758444
|
0.47599
|
NM_017433.5(MYO3A):c.1054-247C>T
|
rs12774889
|
0.47598
|
NM_017433.5(MYO3A):c.1054-72T>C
|
rs3817421
|
0.47594
|
NM_017433.5(MYO3A):c.1053+274T>C
|
rs61846590
|
0.47587
|
NM_017433.5(MYO3A):c.1170+158A>G
|
rs3817418
|
0.47584
|
NM_017433.5(MYO3A):c.1170+297A>G
|
rs3817417
|
0.47580
|
NM_017433.5(MYO3A):c.954-183T>C
|
rs3824705
|
0.47569
|
NM_017433.5(MYO3A):c.954-170A>G
|
rs3824704
|
0.47563
|
NM_017433.5(MYO3A):c.1104C>T (p.Tyr368=)
|
rs35379457
|
0.47540
|
NM_017433.5(MYO3A):c.1053+11C>T
|
rs3824698
|
0.47508
|
NM_017433.5(MYO3A):c.1053+12A>G
|
rs3824697
|
0.47492
|
NM_017433.5(MYO3A):c.1054-138G>A
|
rs7477386
|
0.47484
|
NM_017433.5(MYO3A):c.1054-124G>A
|
rs35636005
|
0.47480
|
NM_017433.5(MYO3A):c.954-42G>T
|
rs3824702
|
0.47457
|
NM_017433.5(MYO3A):c.954-32A>G
|
rs3824701
|
0.47455
|
NM_017433.5(MYO3A):c.1170+328G>T
|
rs7095668
|
0.47441
|
NM_017433.5(MYO3A):c.586-22T>C
|
rs3737275
|
0.43457
|
NM_017433.5(MYO3A):c.2506-72G>T
|
rs2368158
|
0.41713
|
NM_017433.5(MYO3A):c.2794-205T>A
|
rs7084000
|
0.40604
|
NM_017433.5(MYO3A):c.2262+64T>G
|
rs17739425
|
0.39961
|
NM_017433.5(MYO3A):c.3850A>T (p.Thr1284Ser)
|
rs3740231
|
0.39847
|
NM_017433.5(MYO3A):c.731+102A>C
|
rs17666079
|
0.37631
|
NM_017433.5(MYO3A):c.2999+225G>A
|
rs7096646
|
0.34395
|
NM_017433.5(MYO3A):c.4293+83G>A
|
rs3758448
|
0.32268
|
NM_017433.5(MYO3A):c.3112-105C>T
|
rs1342320
|
0.32266
|
NM_017433.5(MYO3A):c.3597G>A (p.Glu1199=)
|
rs3740232
|
0.31670
|
NM_017433.5(MYO3A):c.732-127G>A
|
rs1339814
|
0.30763
|
NM_017433.5(MYO3A):c.1359+236T>G
|
rs12770421
|
0.30714
|
NM_017433.5(MYO3A):c.508+180G>A
|
rs7911700
|
0.30099
|
NM_017433.5(MYO3A):c.169-93A>C
|
rs12247318
|
0.29666
|
NM_017433.5(MYO3A):c.169-200G>T
|
rs12252546
|
0.29604
|
NM_017433.5(MYO3A):c.4731-114A>G
|
rs10508715
|
0.18591
|
NM_017433.5(MYO3A):c.2716-50A>C
|
rs3818957
|
0.18180
|
NM_017433.5(MYO3A):c.3398+245C>T
|
rs3737316
|
0.17850
|
NM_017433.5(MYO3A):c.732-299T>A
|
rs17738768
|
0.17135
|
NM_017433.5(MYO3A):c.953+263G>A
|
rs11816333
|
0.16755
|
NM_017433.5(MYO3A):c.303+159G>T
|
rs1546699
|
0.16265
|
NM_017433.5(MYO3A):c.3274+258A>C
|
rs1361713
|
0.14039
|
NM_017433.5(MYO3A):c.798-209A>T
|
rs11014917
|
0.13824
|
NM_017433.5(MYO3A):c.1903+105C>A
|
rs2275727
|
0.13768
|
NM_017433.5(MYO3A):c.1904-221A>T
|
rs3817416
|
0.13733
|
NM_017433.5(MYO3A):c.4293+114G>A
|
rs11812370
|
0.12956
|
NM_017433.5(MYO3A):c.3112-4T>C
|
rs16926628
|
0.12937
|
NM_017433.5(MYO3A):c.4294-204G>A
|
rs7894269
|
0.12925
|
NM_017433.5(MYO3A):c.3399-35G>A
|
rs11014983
|
0.12279
|
NM_017433.5(MYO3A):c.954-225A>G
|
rs3824706
|
0.11954
|
NM_017433.5(MYO3A):c.1743G>A (p.Glu581=)
|
rs41279908
|
0.10116
|
NM_017433.5(MYO3A):c.304-283T>C
|
rs111430129
|
0.10096
|
NM_017433.5(MYO3A):c.304-132A>C
|
rs41279906
|
0.10018
|
NM_017433.5(MYO3A):c.4438+18T>C
|
rs17739680
|
0.10011
|
NM_017433.5(MYO3A):c.303+209A>G
|
rs1546698
|
0.09756
|
NM_017433.5(MYO3A):c.480G>T (p.Thr160=)
|
rs12257119
|
0.09365
|
NM_017433.5(MYO3A):c.-15T>A
|
rs11014875
|
0.08552
|
NM_017433.5(MYO3A):c.-18G>A
|
rs10128298
|
0.08551
|
NM_017433.5(MYO3A):c.-132A>G
|
rs7073224
|
0.08457
|
NM_017433.4(MYO3A):c.-215A>G
|
rs7073084
|
0.08165
|
NM_017433.5(MYO3A):c.624C>T (p.Asp208=)
|
rs35010955
|
0.08016
|
NM_017433.5(MYO3A):c.3112-56A>G
|
rs75423842
|
0.07600
|
NM_017433.5(MYO3A):c.4731-219dup
|
rs146748264
|
0.07134
|
NM_017433.5(MYO3A):c.660C>T (p.Ala220=)
|
rs34067308
|
0.06790
|
NM_017433.5(MYO3A):c.586-28A>G
|
rs41314631
|
0.06787
|
NM_017433.5(MYO3A):c.731+20G>A
|
rs56210104
|
0.06778
|
NM_017433.5(MYO3A):c.586-29C>T
|
rs56077277
|
0.06743
|
NM_017433.5(MYO3A):c.586-223C>T
|
rs41314633
|
0.06741
|
NM_017433.5(MYO3A):c.304-171A>G
|
rs79417371
|
0.06521
|
NM_017433.5(MYO3A):c.3398+134C>G
|
rs56296397
|
0.06268
|
NM_017433.5(MYO3A):c.4294-146A>G
|
rs116302255
|
0.06266
|
NM_017433.5(MYO3A):c.1563-88A>G
|
rs76771391
|
0.06210
|
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser)
|
rs33947968
|
0.06209
|
NM_017433.5(MYO3A):c.4587-135C>A
|
rs77828234
|
0.06185
|
NM_017433.5(MYO3A):c.798-264_798-243dup
|
rs138554078
|
0.06166
|
NM_017433.5(MYO3A):c.-17-79C>T
|
rs17450092
|
0.04564
|
NM_017433.5(MYO3A):c.2794-58C>T
|
rs45472793
|
0.03912
|
NM_017433.5(MYO3A):c.2505+187C>T
|
rs78706885
|
0.03274
|
NM_017433.5(MYO3A):c.731+79A>G
|
rs11014915
|
0.02711
|
NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=)
|
rs56316209
|
0.02444
|
NM_017433.5(MYO3A):c.4439-262C>T
|
rs116548782
|
0.02404
|
NM_017433.5(MYO3A):c.303+287T>A
|
rs78666654
|
0.02396
|
NM_017433.5(MYO3A):c.*246C>T
|
rs12261671
|
0.02237
|
NM_017433.5(MYO3A):c.4294-78G>A
|
rs113977717
|
0.02137
|
NM_017433.5(MYO3A):c.3398+320T>G
|
rs114869853
|
0.02132
|
NM_017433.5(MYO3A):c.4586+202C>T
|
rs191567877
|
0.02067
|
NM_017433.5(MYO3A):c.4546-95G>A
|
rs7069695
|
0.01944
|
NM_017433.5(MYO3A):c.1903+300A>G
|
rs57004262
|
0.01829
|
NM_017433.5(MYO3A):c.4438+160G>T
|
rs187277149
|
0.01703
|
NM_017433.5(MYO3A):c.2716-286A>T
|
rs56343721
|
0.01542
|
NM_017433.5(MYO3A):c.409-248T>G
|
rs78788833
|
0.01419
|
NM_017433.5(MYO3A):c.-189C>G
|
rs188597967
|
0.01399
|
NM_017433.5(MYO3A):c.4335A>G (p.Lys1445=)
|
rs34615182
|
0.01332
|
NM_017433.5(MYO3A):c.731+276T>C
|
rs78319880
|
0.01314
|
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile)
|
rs33968748
|
0.01220
|
NM_017433.5(MYO3A):c.508+279G>A
|
rs77372144
|
0.01219
|
NM_017433.5(MYO3A):c.508+283G>A
|
rs79266743
|
0.01218
|
NM_017433.5(MYO3A):c.509-16T>C
|
rs117238740
|
0.01031
|
NM_017433.5(MYO3A):c.2999+265G>A
|
rs76099570
|
0.00997
|
NM_017433.5(MYO3A):c.4439-254G>A
|
rs185917848
|
0.00995
|
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys)
|
rs61729833
|
0.00965
|
NM_017433.5(MYO3A):c.2716-117G>C
|
rs11014972
|
0.00963
|
NM_017433.5(MYO3A):c.2114+78A>C
|
rs12256860
|
0.00960
|
NM_017433.5(MYO3A):c.4587-30G>T
|
rs115252307
|
0.00925
|
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr)
|
rs34918608
|
0.00845
|
NM_017433.5(MYO3A):c.*493G>A
|
rs72787376
|
0.00838
|
NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr)
|
rs35575696
|
0.00819
|
NM_017433.5(MYO3A):c.4730+92C>A
|
rs147918803
|
0.00792
|
NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile)
|
rs34151474
|
0.00780
|
NM_017433.5(MYO3A):c.304-287C>T
|
rs59118546
|
0.00752
|
NM_017433.5(MYO3A):c.2417-53T>C
|
rs111849833
|
0.00646
|
NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=)
|
rs61731629
|
0.00612
|
NM_017433.5(MYO3A):c.2636-276T>A
|
rs146477907
|
0.00610
|
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)
|
rs147376000
|
0.00541
|
NM_017433.5(MYO3A):c.*270A>G
|
rs115859827
|
0.00498
|
NM_017433.5(MYO3A):c.2635+55A>G
|
rs74372343
|
0.00490
|
NM_017433.5(MYO3A):c.2999+222G>A
|
rs116034089
|
0.00490
|
NM_017433.5(MYO3A):c.1971T>C (p.Thr657=)
|
rs112195128
|
0.00489
|
NM_017433.5(MYO3A):c.2169T>C (p.Asn723=)
|
rs114982270
|
0.00462
|
NM_017433.5(MYO3A):c.732-281C>T
|
rs150463218
|
0.00457
|
NM_017433.5(MYO3A):c.409-242T>C
|
rs114693840
|
0.00454
|
NM_017433.5(MYO3A):c.3399-102T>C
|
rs148793254
|
0.00443
|
NM_017433.5(MYO3A):c.953+233G>A
|
rs139635391
|
0.00418
|
NM_017433.5(MYO3A):c.3589G>A (p.Glu1197Lys)
|
rs75801377
|
0.00414
|
NM_017433.5(MYO3A):c.1777-14G>T
|
rs4592324
|
0.00409
|
NM_017433.5(MYO3A):c.4294-42T>C
|
rs16926632
|
0.00402
|
NM_017433.5(MYO3A):c.3000-311G>A
|
rs76385388
|
0.00385
|
NM_017433.5(MYO3A):c.4730+58C>G
|
rs146767712
|
0.00373
|
NM_017433.5(MYO3A):c.2416+98A>G
|
rs116256511
|
0.00351
|
NM_017433.5(MYO3A):c.586-258C>T
|
rs147399440
|
0.00334
|
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro)
|
rs61731652
|
0.00334
|
NM_017433.5(MYO3A):c.-30A>G
|
rs189912098
|
0.00332
|
NM_017433.5(MYO3A):c.2999+224C>A
|
rs116319748
|
0.00301
|
NM_017433.5(MYO3A):c.508+237G>A
|
rs7911847
|
0.00291
|
NM_017433.5(MYO3A):c.4731-39T>G
|
rs139127431
|
0.00245
|
NM_017433.5(MYO3A):c.4589A>T (p.Gln1530Leu)
|
rs147749053
|
0.00236
|
NM_017433.5(MYO3A):c.4546-30A>G
|
rs368674587
|
0.00228
|
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val)
|
rs72787346
|
0.00218
|
NM_017433.5(MYO3A):c.2973G>T (p.Arg991=)
|
rs146647767
|
0.00204
|
NM_017433.5(MYO3A):c.3111+46G>T
|
rs142382495
|
0.00156
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu)
|
rs34204285
|
0.00134
|
NM_017433.5(MYO3A):c.4439-12C>T
|
rs201689300
|
0.00126
|
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr)
|
rs140301218
|
0.00121
|
NM_017433.5(MYO3A):c.1566A>C (p.Gly522=)
|
rs139121564
|
0.00111
|
NM_017433.5(MYO3A):c.1500G>A (p.Ala500=)
|
rs146797033
|
0.00104
|
NM_017433.5(MYO3A):c.585+4A>T
|
rs202189844
|
0.00095
|
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala)
|
rs146511800
|
0.00094
|
NM_017433.5(MYO3A):c.177C>T (p.Asp59=)
|
rs139958275
|
0.00085
|
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)
|
rs34803755
|
0.00084
|
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=)
|
rs3758442
|
0.00083
|
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=)
|
rs56147819
|
0.00078
|
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)
|
rs184043065
|
0.00078
|
NM_017433.5(MYO3A):c.546G>T (p.Arg182=)
|
rs148349532
|
0.00072
|
NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=)
|
rs146832858
|
0.00069
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_017433.5(MYO3A):c.409-18A>G
|
rs191938902
|
0.00049
|
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)
|
rs35541310
|
0.00044
|
NM_017433.5(MYO3A):c.*233C>T
|
rs569425203
|
0.00042
|
NM_017433.5(MYO3A):c.113T>C (p.Val38Ala)
|
rs144518447
|
0.00041
|
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val)
|
rs56261037
|
0.00041
|
NM_017433.5(MYO3A):c.3584T>C (p.Val1195Ala)
|
rs35675577
|
0.00039
|
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala)
|
rs138955440
|
0.00037
|
NM_017433.5(MYO3A):c.4294-31G>C
|
rs377363591
|
0.00037
|
NM_017433.5(MYO3A):c.3000-11T>C
|
rs375346333
|
0.00036
|
NM_017433.4(MYO3A):c.-312G>A
|
rs184554148
|
0.00035
|
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=)
|
rs143749728
|
0.00035
|
NM_017433.5(MYO3A):c.1174T>C (p.Ser392Pro)
|
rs201323717
|
0.00034
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr)
|
rs201033926
|
0.00030
|
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)
|
rs189595832
|
0.00029
|
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr)
|
rs142823078
|
0.00026
|
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro)
|
rs149521185
|
0.00026
|
NM_017433.5(MYO3A):c.1052A>C (p.Glu351Ala)
|
rs141612979
|
0.00024
|
NM_017433.5(MYO3A):c.1170+15G>A
|
rs764976663
|
0.00024
|
NM_017433.5(MYO3A):c.1562+13C>T
|
rs371977805
|
0.00024
|
NM_017433.5(MYO3A):c.303+13G>C
|
rs370111724
|
0.00024
|
NM_017433.5(MYO3A):c.1941A>G (p.Gln647=)
|
rs778345128
|
0.00023
|
NM_017433.5(MYO3A):c.797+33A>G
|
rs77216793
|
0.00023
|
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu)
|
rs145970949
|
0.00022
|
NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter)
|
rs146106052
|
0.00022
|
NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn)
|
rs144008984
|
0.00021
|
NM_017433.5(MYO3A):c.4627G>A (p.Glu1543Lys)
|
rs148069836
|
0.00021
|
NM_017433.5(MYO3A):c.3112G>T (p.Val1038Leu)
|
rs137900700
|
0.00020
|
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln)
|
rs141903506
|
0.00020
|
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)
|
rs138593211
|
0.00020
|
NM_017433.5(MYO3A):c.1796G>T (p.Ser599Ile)
|
rs142289318
|
0.00019
|
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His)
|
rs148993025
|
0.00019
|
NM_017433.5(MYO3A):c.535C>T (p.Arg179Trp)
|
rs144053789
|
0.00019
|
NM_017433.5(MYO3A):c.1499C>T (p.Ala500Val)
|
rs138526349
|
0.00018
|
NM_017433.5(MYO3A):c.1668A>G (p.Leu556=)
|
rs112809849
|
0.00018
|
NM_017433.5(MYO3A):c.2506-1G>A
|
rs201023600
|
0.00018
|
NM_017433.5(MYO3A):c.4730+11A>C
|
rs375717548
|
0.00017
|
NM_017433.5(MYO3A):c.656C>T (p.Thr219Met)
|
rs377660409
|
0.00017
|
NM_017433.5(MYO3A):c.954-3del
|
rs759978541
|
0.00017
|
NM_017433.5(MYO3A):c.1170+5G>A
|
rs370017770
|
0.00016
|
NM_017433.5(MYO3A):c.1829T>C (p.Ile610Thr)
|
rs140587339
|
0.00016
|
NM_017433.5(MYO3A):c.2774C>T (p.Thr925Met)
|
rs149803315
|
0.00016
|
NM_017433.5(MYO3A):c.3398+3A>G
|
rs373758358
|
0.00015
|
NM_017433.5(MYO3A):c.1207A>G (p.Ser403Gly)
|
rs375646552
|
0.00014
|
NM_017433.5(MYO3A):c.906G>A (p.Thr302=)
|
rs139818474
|
0.00014
|
NM_017433.5(MYO3A):c.*476G>A
|
rs910475040
|
0.00013
|
NM_017433.5(MYO3A):c.1828A>G (p.Ile610Val)
|
rs151254539
|
0.00013
|
NM_017433.5(MYO3A):c.3256G>A (p.Ala1086Thr)
|
rs568909391
|
0.00013
|
NM_017433.5(MYO3A):c.3959A>G (p.Glu1320Gly)
|
rs138034435
|
0.00013
|
NM_017433.5(MYO3A):c.892C>T (p.Gln298Ter)
|
rs563832490
|
0.00012
|
NM_017433.5(MYO3A):c.*239C>T
|
rs977461628
|
0.00011
|
NM_017433.5(MYO3A):c.1360-8C>A
|
rs201980317
|
0.00011
|
NM_017433.5(MYO3A):c.1525T>C (p.Tyr509His)
|
rs150793986
|
0.00011
|
NM_017433.5(MYO3A):c.4140C>T (p.Val1380=)
|
rs376559049
|
0.00011
|
NM_017433.5(MYO3A):c.2353G>T (p.Gly785Cys)
|
rs202001447
|
0.00010
|
NM_017433.5(MYO3A):c.4407T>C (p.Asn1469=)
|
rs199843655
|
0.00010
|
NM_017433.5(MYO3A):c.202A>C (p.Ile68Leu)
|
rs569392916
|
0.00009
|
NM_017433.5(MYO3A):c.315del (p.Gly106fs)
|
rs777580042
|
0.00009
|
NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=)
|
rs139504940
|
0.00009
|
NM_017433.5(MYO3A):c.4657G>C (p.Glu1553Gln)
|
rs746991326
|
0.00009
|
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn)
|
rs3737274
|
0.00009
|
NM_017433.5(MYO3A):c.4242G>A (p.Ser1414=)
|
rs370029963
|
0.00008
|
NM_017433.5(MYO3A):c.4846T>C (p.Ser1616Pro)
|
rs767228097
|
0.00008
|
NM_017433.5(MYO3A):c.-146G>A
|
rs929411495
|
0.00007
|
NM_017433.5(MYO3A):c.1777-4T>G
|
rs41279910
|
0.00007
|
NM_017433.5(MYO3A):c.2918G>A (p.Arg973Gln)
|
rs142974032
|
0.00007
|
NM_017433.5(MYO3A):c.3027C>T (p.Ser1009=)
|
rs141341808
|
0.00007
|
NM_017433.5(MYO3A):c.479C>T (p.Thr160Met)
|
rs200879713
|
0.00007
|
NM_017433.5(MYO3A):c.1662-9T>A
|
rs200678745
|
0.00006
|
NM_017433.5(MYO3A):c.2615A>G (p.Asn872Ser)
|
rs184466929
|
0.00006
|
NM_017433.5(MYO3A):c.2803A>C (p.Met935Leu)
|
rs375958934
|
0.00006
|
NM_017433.5(MYO3A):c.3007C>T (p.Leu1003Phe)
|
rs776675167
|
0.00006
|
NM_017433.5(MYO3A):c.4272T>A (p.Gly1424=)
|
rs780271562
|
0.00006
|
NM_017433.5(MYO3A):c.4618T>G (p.Tyr1540Asp)
|
rs567422421
|
0.00006
|
NM_017433.5(MYO3A):c.542G>A (p.Arg181His)
|
rs574220416
|
0.00006
|
NM_017433.5(MYO3A):c.1319A>G (p.Asn440Ser)
|
rs762073830
|
0.00005
|
NM_017433.5(MYO3A):c.230A>C (p.Asn77Thr)
|
rs1232229010
|
0.00005
|
NM_017433.5(MYO3A):c.3024G>A (p.Ser1008=)
|
rs201061996
|
0.00005
|
NM_017433.5(MYO3A):c.3133G>A (p.Val1045Met)
|
rs35447806
|
0.00005
|
NM_017433.5(MYO3A):c.848A>C (p.Gln283Pro)
|
rs199541460
|
0.00005
|
NM_017433.5(MYO3A):c.*354A>G
|
rs1034610594
|
0.00004
|
NM_017433.5(MYO3A):c.1053+3A>G
|
rs376770226
|
0.00004
|
NM_017433.5(MYO3A):c.1193C>A (p.Ser398Ter)
|
rs769540160
|
0.00004
|
NM_017433.5(MYO3A):c.1725C>G (p.Ser575=)
|
rs201882363
|
0.00004
|
NM_017433.5(MYO3A):c.1860G>C (p.Gln620His)
|
rs556349593
|
0.00004
|
NM_017433.5(MYO3A):c.1893C>T (p.Ala631=)
|
rs576387395
|
0.00004
|
NM_017433.5(MYO3A):c.2376A>G (p.Glu792=)
|
rs758480848
|
0.00004
|
NM_017433.5(MYO3A):c.2423T>C (p.Phe808Ser)
|
rs187273590
|
0.00004
|
NM_017433.5(MYO3A):c.3085G>A (p.Asp1029Asn)
|
rs56403976
|
0.00004
|
NM_017433.5(MYO3A):c.3086A>G (p.Asp1029Gly)
|
rs374226960
|
0.00004
|
NM_017433.5(MYO3A):c.3337G>A (p.Val1113Ile)
|
rs770255390
|
0.00004
|
NM_017433.5(MYO3A):c.4094A>C (p.Gln1365Pro)
|
rs528252728
|
0.00004
|
NM_017433.5(MYO3A):c.4350T>C (p.Ile1450=)
|
rs397517294
|
0.00004
|
NM_017433.5(MYO3A):c.4766_4768dup (p.Glu1589_Arg1590insLys)
|
rs1491231131
|
0.00004
|
NM_017433.5(MYO3A):c.743C>G (p.Pro248Arg)
|
rs780657075
|
0.00004
|
NM_017433.5(MYO3A):c.991C>T (p.Arg331Ter)
|
rs749269594
|
0.00004
|
NM_017433.5(MYO3A):c.*195C>T
|
rs980105067
|
0.00003
|
NM_017433.5(MYO3A):c.*327G>A
|
rs886046928
|
0.00003
|
NM_017433.5(MYO3A):c.1562T>C (p.Ile521Thr)
|
rs886046921
|
0.00003
|
NM_017433.5(MYO3A):c.1583T>C (p.Ile528Thr)
|
rs886046922
|
0.00003
|
NM_017433.5(MYO3A):c.1727A>G (p.Gln576Arg)
|
rs147703579
|
0.00003
|
NM_017433.5(MYO3A):c.2089T>G (p.Leu697Val)
|
rs753357658
|
0.00003
|
NM_017433.5(MYO3A):c.2115-10A>G
|
rs200205050
|
0.00003
|
NM_017433.5(MYO3A):c.2228A>G (p.Tyr743Cys)
|
rs372097677
|
0.00003
|
NM_017433.5(MYO3A):c.2245G>A (p.Val749Met)
|
rs537846606
|
0.00003
|
NM_017433.5(MYO3A):c.233T>G (p.Val78Gly)
|
rs377015132
|
0.00003
|
NM_017433.5(MYO3A):c.2703C>A (p.Ile901=)
|
rs201429267
|
0.00003
|
NM_017433.5(MYO3A):c.2719G>A (p.Asp907Asn)
|
rs727503325
|
0.00003
|
NM_017433.5(MYO3A):c.2999G>A (p.Arg1000Gln)
|
rs755548787
|
0.00003
|
NM_017433.5(MYO3A):c.3010C>T (p.Leu1004Phe)
|
rs765346513
|
0.00003
|
NM_017433.5(MYO3A):c.3035C>T (p.Pro1012Leu)
|
rs146852484
|
0.00003
|
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln)
|
rs267602452
|
0.00003
|
NM_017433.5(MYO3A):c.3398+25C>T
|
rs201812562
|
0.00003
|
NM_017433.5(MYO3A):c.3993C>T (p.Val1331=)
|
rs373422750
|
0.00003
|
NM_017433.5(MYO3A):c.4505T>G (p.Leu1502Ter)
|
rs754217606
|
0.00003
|
NM_017433.5(MYO3A):c.472T>C (p.Leu158=)
|
rs1412624643
|
0.00003
|
NM_017433.5(MYO3A):c.568T>C (p.Phe190Leu)
|
rs727504671
|
0.00003
|
NM_017433.5(MYO3A):c.732-19T>C
|
rs757402790
|
0.00003
|
NM_017433.5(MYO3A):c.823C>T (p.Arg275Cys)
|
rs755478240
|
0.00003
|
NM_017433.5(MYO3A):c.953+17T>G
|
rs377301180
|
0.00003
|
NM_017433.5(MYO3A):c.168C>T (p.His56=)
|
rs201668920
|
0.00002
|
NM_017433.5(MYO3A):c.1997A>T (p.Asn666Ile)
|
rs200162942
|
0.00002
|
NM_017433.5(MYO3A):c.2023A>G (p.Arg675Gly)
|
rs776878976
|
0.00002
|
NM_017433.5(MYO3A):c.2702T>A (p.Ile901Asn)
|
rs201572198
|
0.00002
|
NM_017433.5(MYO3A):c.2783C>G (p.Ser928Ter)
|
rs778110879
|
0.00002
|
NM_017433.5(MYO3A):c.2849G>A (p.Arg950His)
|
rs143371522
|
0.00002
|
NM_017433.5(MYO3A):c.2951G>A (p.Arg984Gln)
|
rs767330393
|
0.00002
|
NM_017433.5(MYO3A):c.3111+5T>C
|
rs375524174
|
0.00002
|
NM_017433.5(MYO3A):c.3537G>A (p.Val1179=)
|
rs774297046
|
0.00002
|
NM_017433.5(MYO3A):c.3747T>A (p.Asn1249Lys)
|
rs201263014
|
0.00002
|
NM_017433.5(MYO3A):c.3973C>T (p.Arg1325Cys)
|
rs767960720
|
0.00002
|
NM_017433.5(MYO3A):c.4150A>G (p.Thr1384Ala)
|
rs868470947
|
0.00002
|
NM_017433.5(MYO3A):c.4438+4A>G
|
rs756581092
|
0.00002
|
NM_017433.5(MYO3A):c.693T>C (p.Ala231=)
|
rs886043667
|
0.00002
|
NM_017433.5(MYO3A):c.*2C>G
|
rs768182699
|
0.00001
|
NM_017433.5(MYO3A):c.*435G>T
|
rs886046931
|
0.00001
|
NM_017433.5(MYO3A):c.1221T>G (p.Ile407Met)
|
rs1395777258
|
0.00001
|
NM_017433.5(MYO3A):c.1276-5T>C
|
rs142877629
|
0.00001
|
NM_017433.5(MYO3A):c.1416C>A (p.Ala472=)
|
rs779845994
|
0.00001
|
NM_017433.5(MYO3A):c.1746A>G (p.Gln582=)
|
rs775168365
|
0.00001
|
NM_017433.5(MYO3A):c.1803C>T (p.Leu601=)
|
rs201584106
|
0.00001
|
NM_017433.5(MYO3A):c.1841C>T (p.Ser614Phe)
|
rs754267104
|
0.00001
|
NM_017433.5(MYO3A):c.1899G>T (p.Glu633Asp)
|
rs1004108483
|
0.00001
|
NM_017433.5(MYO3A):c.1904-13G>A
|
rs911249864
|
0.00001
|
NM_017433.5(MYO3A):c.1975G>A (p.Gly659Arg)
|
rs201181958
|
0.00001
|
NM_017433.5(MYO3A):c.1991G>T (p.Arg664Leu)
|
rs886042194
|
0.00001
|
NM_017433.5(MYO3A):c.1A>G (p.Met1Val)
|
rs727504593
|
0.00001
|
NM_017433.5(MYO3A):c.2115-7C>A
|
rs764917474
|
0.00001
|
NM_017433.5(MYO3A):c.2167A>C (p.Asn723His)
|
rs375759440
|
0.00001
|
NM_017433.5(MYO3A):c.2168A>G (p.Asn723Ser)
|
rs771154512
|
0.00001
|
NM_017433.5(MYO3A):c.2331T>C (p.Asp777=)
|
rs775141112
|
0.00001
|
NM_017433.5(MYO3A):c.2505+12A>G
|
rs1222923903
|
0.00001
|
NM_017433.5(MYO3A):c.2548A>C (p.Thr850Pro)
|
rs200248007
|
0.00001
|
NM_017433.5(MYO3A):c.2685G>T (p.Arg895Ser)
|
rs1398698112
|
0.00001
|
NM_017433.5(MYO3A):c.2701A>G (p.Ile901Val)
|
rs1371951424
|
0.00001
|
NM_017433.5(MYO3A):c.2754A>G (p.Thr918=)
|
rs780196851
|
0.00001
|
NM_017433.5(MYO3A):c.2794-11G>A
|
rs752888743
|
0.00001
|
NM_017433.5(MYO3A):c.2845G>T (p.Val949Phe)
|
rs483352742
|
0.00001
|
NM_017433.5(MYO3A):c.2854A>C (p.Ile952Leu)
|
rs767552680
|
0.00001
|
NM_017433.5(MYO3A):c.285G>T (p.Lys95Asn)
|
rs1282051090
|
0.00001
|
NM_017433.5(MYO3A):c.288G>A (p.Leu96=)
|
rs760525102
|
0.00001
|
NM_017433.5(MYO3A):c.2972G>A (p.Arg991Gln)
|
rs764099857
|
0.00001
|
NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs)
|
rs746055369
|
0.00001
|
NM_017433.5(MYO3A):c.3021G>T (p.Lys1007Asn)
|
rs1358583401
|
0.00001
|
NM_017433.5(MYO3A):c.3232A>T (p.Ile1078Leu)
|
rs199834305
|
0.00001
|
NM_017433.5(MYO3A):c.3274+1G>T
|
rs201538580
|
0.00001
|
NM_017433.5(MYO3A):c.3275-2A>G
|
rs377694329
|
0.00001
|
NM_017433.5(MYO3A):c.35A>T (p.Asp12Val)
|
rs751347652
|
0.00001
|
NM_017433.5(MYO3A):c.374C>T (p.Pro125Leu)
|
rs756557890
|
0.00001
|
NM_017433.5(MYO3A):c.3757T>C (p.Ser1253Pro)
|
rs541189709
|
0.00001
|
NM_017433.5(MYO3A):c.3763G>A (p.Ala1255Thr)
|
rs1842186309
|
0.00001
|
NM_017433.5(MYO3A):c.3819G>A (p.Trp1273Ter)
|
rs762088627
|
0.00001
|
NM_017433.5(MYO3A):c.3949T>C (p.Cys1317Arg)
|
rs147011382
|
0.00001
|
NM_017433.5(MYO3A):c.3974G>A (p.Arg1325His)
|
rs753360802
|
0.00001
|
NM_017433.5(MYO3A):c.4010A>T (p.Glu1337Val)
|
rs748147609
|
0.00001
|
NM_017433.5(MYO3A):c.4072C>T (p.Arg1358Trp)
|
rs775816097
|
0.00001
|
NM_017433.5(MYO3A):c.4081A>G (p.Lys1361Glu)
|
rs1380105932
|
0.00001
|
NM_017433.5(MYO3A):c.4132A>G (p.Arg1378Gly)
|
rs769527236
|
0.00001
|
NM_017433.5(MYO3A):c.4187A>G (p.Tyr1396Cys)
|
rs761085845
|
0.00001
|
NM_017433.5(MYO3A):c.4294A>G (p.Ile1432Val)
|
rs1842352805
|
0.00001
|
NM_017433.5(MYO3A):c.4371A>T (p.Ser1457=)
|
rs1021696700
|
0.00001
|
NM_017433.5(MYO3A):c.4474C>A (p.Pro1492Thr)
|
rs368473860
|
0.00001
|
NM_017433.5(MYO3A):c.4489C>T (p.Arg1497Trp)
|
rs886046926
|
0.00001
|
NM_017433.5(MYO3A):c.4662T>C (p.His1554=)
|
rs768565288
|
0.00001
|
NM_017433.5(MYO3A):c.4829G>A (p.Arg1610Gln)
|
rs375545757
|
0.00001
|
NM_017433.5(MYO3A):c.4847C>T (p.Ser1616Phe)
|
rs752615488
|
0.00001
|
NM_017433.5(MYO3A):c.4849T>C (p.Ter1617Gln)
|
rs141985215
|
0.00001
|
NM_017433.5(MYO3A):c.509-15T>C
|
rs1842008289
|
0.00001
|
NM_017433.5(MYO3A):c.706A>G (p.Met236Val)
|
rs766118638
|
0.00001
|
NM_017433.5(MYO3A):c.798-6G>A
|
rs770441498
|
0.00001
|
NM_017433.5(MYO3A):c.83G>A (p.Gly28Asp)
|
rs771163629
|
0.00001
|
NM_017433.5(MYO3A):c.859A>C (p.Ile287Leu)
|
rs886046919
|
0.00001
|
NM_017433.5(MYO3A):c.888G>A (p.Met296Ile)
|
rs751865849
|
0.00001
|
NM_017433.5(MYO3A):c.912C>A (p.Phe304Leu)
|
rs1458926642
|
0.00001
|
NM_017433.5(MYO3A):c.946A>G (p.Lys316Glu)
|
rs768515710
|
0.00001
|
NM_017433.5(MYO3A):c.962G>A (p.Arg321His)
|
rs770114774
|
0.00001
|
GRCh37/hg19 10p12.1(chr10:26261117-26473499)x3
|
|
|
GRCh37/hg19 10p12.1(chr10:26344822-26403291)x1
|
|
|
GRCh37/hg19 10p12.1(chr10:26476682-26493359)x1
|
|
|
NC_000010.10:g.(?_26462572)_(26463506_?)del
|
|
|
NC_000010.11:g.26016820del
|
|
|
NM_017433.4(MYO3A):c.-302G>C
|
rs886046915
|
|
NM_017433.5(MYO3A):c.*35G>T
|
|
|
NM_017433.5(MYO3A):c.*399del
|
rs558895234
|
|
NM_017433.5(MYO3A):c.*399dup
|
rs558895234
|
|
NM_017433.5(MYO3A):c.*422C>G
|
rs886046930
|
|
NM_017433.5(MYO3A):c.*538G>T
|
rs918987227
|
|
NM_017433.5(MYO3A):c.-104-14del
|
rs886046916
|
|
NM_017433.5(MYO3A):c.-109C>T
|
rs1835892283
|
|
NM_017433.5(MYO3A):c.-37A>G
|
rs564519092
|
|
NM_017433.5(MYO3A):c.-50A>G
|
rs886046917
|
|
NM_017433.5(MYO3A):c.1029A>G (p.Leu343=)
|
rs544012938
|
|
NM_017433.5(MYO3A):c.1038A>G (p.Leu346=)
|
rs727505229
|
|
NM_017433.5(MYO3A):c.103G>A (p.Val35Ile)
|
|
|
NM_017433.5(MYO3A):c.1042A>C (p.Ile348Leu)
|
rs3824699
|
|
NM_017433.5(MYO3A):c.1053+11_1053+12inv
|
|
|
NM_017433.5(MYO3A):c.1072C>T (p.Leu358Phe)
|
rs2131379855
|
|
NM_017433.5(MYO3A):c.1080G>A (p.Lys360=)
|
rs397517293
|
|
NM_017433.5(MYO3A):c.1083T>G (p.Cys361Trp)
|
|
|
NM_017433.5(MYO3A):c.1104_1105delinsTA (p.Val369Ile)
|
rs386742102
|
|
NM_017433.5(MYO3A):c.1111G>A (p.Val371Met)
|
rs1835017150
|
|
NM_017433.5(MYO3A):c.112G>T (p.Val38Leu)
|
|
|
NM_017433.5(MYO3A):c.1143T>C (p.Phe381=)
|
rs926365190
|
|
NM_017433.5(MYO3A):c.1145A>G (p.Gln382Arg)
|
|
|
NM_017433.5(MYO3A):c.115T>C (p.Leu39=)
|
|
|
NM_017433.5(MYO3A):c.1162T>C (p.Ser388Pro)
|
rs917537176
|
|
NM_017433.5(MYO3A):c.1171-10T>C
|
rs2131387204
|
|
NM_017433.5(MYO3A):c.1251T>C (p.Ser417=)
|
|
|
NM_017433.5(MYO3A):c.1256T>C (p.Ile419Thr)
|
|
|
NM_017433.5(MYO3A):c.1262A>T (p.Tyr421Phe)
|
rs2131387885
|
|
NM_017433.5(MYO3A):c.1272T>C (p.Asp424=)
|
rs1232445975
|
|
NM_017433.5(MYO3A):c.1275+36T>G
|
rs3758441
|
|
NM_017433.5(MYO3A):c.1276-45dup
|
rs3834403
|
|
NM_017433.5(MYO3A):c.1276-4A>G
|
|
|
NM_017433.5(MYO3A):c.1279A>G (p.Ile427Val)
|
rs745680182
|
|
NM_017433.5(MYO3A):c.1286_1288del (p.Ile429_Ser430delinsThr)
|
rs886046920
|
|
NM_017433.5(MYO3A):c.1324C>A (p.His442Asn)
|
rs142415484
|
|
NM_017433.5(MYO3A):c.1324C>T (p.His442Tyr)
|
rs142415484
|
|
NM_017433.5(MYO3A):c.133C>T (p.Gln45Ter)
|
|
|
NM_017433.5(MYO3A):c.1341G>A (p.Gln447=)
|
|
|
NM_017433.5(MYO3A):c.1344G>T (p.Leu448=)
|
|
|
NM_017433.5(MYO3A):c.1359+15T>C
|
|
|
NM_017433.5(MYO3A):c.1359+1G>T
|
rs756836048
|
|
NM_017433.5(MYO3A):c.1368C>G (p.Asn456Lys)
|
|
|
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)
|
rs760866131
|
|
NM_017433.5(MYO3A):c.1415C>A (p.Ala472Asp)
|
|
|
NM_017433.5(MYO3A):c.1432A>G (p.Thr478Ala)
|
|
|
NM_017433.5(MYO3A):c.1438A>G (p.Ile480Val)
|
|
|
NM_017433.5(MYO3A):c.1448A>G (p.Asn483Ser)
|
|
|
NM_017433.5(MYO3A):c.1449T>G (p.Asn483Lys)
|
|
|
NM_017433.5(MYO3A):c.1450T>C (p.Ser484Pro)
|
|
|
NM_017433.5(MYO3A):c.1490C>T (p.Ser497Phe)
|
|
|
NM_017433.5(MYO3A):c.152T>G (p.Ile51Ser)
|
|
|
NM_017433.5(MYO3A):c.1534G>A (p.Glu512Lys)
|
rs1564535973
|
|
NM_017433.5(MYO3A):c.1544G>T (p.Arg515Leu)
|
|
|
NM_017433.5(MYO3A):c.154C>G (p.Leu52Val)
|
rs1191024582
|
|
NM_017433.5(MYO3A):c.1561A>C (p.Ile521Leu)
|
rs1198353048
|
|
NM_017433.5(MYO3A):c.1561A>G (p.Ile521Val)
|
|
|
NM_017433.5(MYO3A):c.1563-15T>C
|
|
|
NM_017433.5(MYO3A):c.1563-1G>A
|
|
|
NM_017433.5(MYO3A):c.1563-7T>C
|
rs886044560
|
|
NM_017433.5(MYO3A):c.1565G>C (p.Gly522Ala)
|
|
|
NM_017433.5(MYO3A):c.1580A>G (p.His527Arg)
|
rs769196672
|
|
NM_017433.5(MYO3A):c.1588dup (p.Tyr530fs)
|
rs1564543838
|
|
NM_017433.5(MYO3A):c.1608G>C (p.Leu536Phe)
|
|
|
NM_017433.5(MYO3A):c.1616A>G (p.Lys539Arg)
|
rs2131558655
|
|
NM_017433.5(MYO3A):c.1621A>G (p.Lys541Glu)
|
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017433.5(MYO3A):c.1643C>T (p.Pro548Leu)
|
rs143918373
|
|
NM_017433.5(MYO3A):c.1661+13G>T
|
rs1464936109
|
|
NM_017433.5(MYO3A):c.1671A>G (p.Gln557=)
|
|
|
NM_017433.5(MYO3A):c.168+1G>A
|
|
|
NM_017433.5(MYO3A):c.168+1G>T
|
|
|
NM_017433.5(MYO3A):c.168+3A>G
|
|
|
NM_017433.5(MYO3A):c.168+3_168+4del
|
rs2130551945
|
|
NM_017433.5(MYO3A):c.168+8A>T
|
|
|
NM_017433.5(MYO3A):c.1682T>G (p.Leu561Arg)
|
|
|
NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter)
|
rs1564544199
|
|
NM_017433.5(MYO3A):c.1692A>C (p.Val564=)
|
|
|
NM_017433.5(MYO3A):c.1695A>G (p.Gln565=)
|
|
|
NM_017433.5(MYO3A):c.1716C>A (p.Phe572Leu)
|
rs751693978
|
|
NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter)
|
rs1564544348
|
|
NM_017433.5(MYO3A):c.1777-12G>A
|
rs1564568849
|
|
NM_017433.5(MYO3A):c.1790T>C (p.Ile597Thr)
|
|
|
NM_017433.5(MYO3A):c.1792T>C (p.Tyr598His)
|
rs886046923
|
|
NM_017433.5(MYO3A):c.1804G>A (p.Ala602Thr)
|
|
|
NM_017433.5(MYO3A):c.1848A>T (p.Ala616=)
|
|
|
NM_017433.5(MYO3A):c.1921A>G (p.Ile641Val)
|
|
|
NM_017433.5(MYO3A):c.1935G>T (p.Glu645Asp)
|
rs745768108
|
|
NM_017433.5(MYO3A):c.1940A>G (p.Gln647Arg)
|
rs1302697771
|
|
NM_017433.5(MYO3A):c.1950C>T (p.Leu650=)
|
|
|
NM_017433.5(MYO3A):c.1995C>T (p.Pro665=)
|
|
|
NM_017433.5(MYO3A):c.2003T>C (p.Val668Ala)
|
|
|
NM_017433.5(MYO3A):c.2016C>T (p.Thr672=)
|
rs56207573
|
|
NM_017433.5(MYO3A):c.2017G>A (p.Asp673Asn)
|
|
|
NM_017433.5(MYO3A):c.2017G>C (p.Asp673His)
|
|
|
NM_017433.5(MYO3A):c.2039A>C (p.Lys680Thr)
|
rs1589000062
|
|
NM_017433.5(MYO3A):c.2046A>G (p.Leu682=)
|
|
|
NM_017433.5(MYO3A):c.2054G>A (p.Arg685His)
|
|
|
NM_017433.5(MYO3A):c.2079C>T (p.Cys693=)
|
|
|
NM_017433.5(MYO3A):c.2088_2094delinsCAA (p.Leu697fs)
|
rs1554829642
|
|
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)
|
rs1564573788
|
|
NM_017433.5(MYO3A):c.2092T>C (p.Leu698=)
|
|
|
NM_017433.5(MYO3A):c.2104T>G (p.Ser702Ala)
|
|
|
NM_017433.5(MYO3A):c.2114+15A>G
|
|
|
NM_017433.5(MYO3A):c.2148T>C (p.Leu716=)
|
|
|
NM_017433.5(MYO3A):c.2149G>A (p.Asp717Asn)
|
|
|
NM_017433.5(MYO3A):c.2164G>A (p.Glu722Lys)
|
rs1190265580
|
|
NM_017433.5(MYO3A):c.2180A>G (p.Asn727Ser)
|
|
|
NM_017433.5(MYO3A):c.2180dup (p.Asn727fs)
|
rs769462859
|
|
NM_017433.5(MYO3A):c.2188G>A (p.Glu730Lys)
|
rs138617479
|
|
NM_017433.5(MYO3A):c.2196G>A (p.Leu732=)
|
|
|
NM_017433.5(MYO3A):c.219T>G (p.Ser73=)
|
|
|
NM_017433.5(MYO3A):c.2242C>T (p.His748Tyr)
|
|
|
NM_017433.5(MYO3A):c.225C>A (p.His75Gln)
|
|
|
NM_017433.5(MYO3A):c.2262+8T>C
|
|
|
NM_017433.5(MYO3A):c.2263-2A>C
|
rs1554833178
|
|
NM_017433.5(MYO3A):c.2263-3T>G
|
rs750600802
|
|
NM_017433.5(MYO3A):c.2281G>A (p.Asp761Asn)
|
|
|
NM_017433.5(MYO3A):c.2340G>T (p.Leu780=)
|
|
|
NM_017433.5(MYO3A):c.2373T>A (p.Asp791Glu)
|
rs1840289762
|
|
NM_017433.5(MYO3A):c.2390C>T (p.Pro797Leu)
|
|
|
NM_017433.5(MYO3A):c.2405A>G (p.Gln802Arg)
|
rs727503324
|
|
NM_017433.5(MYO3A):c.2413G>T (p.Val805Leu)
|
rs2131846771
|
|
NM_017433.5(MYO3A):c.2416+10C>G
|
|
|
NM_017433.5(MYO3A):c.2416+14C>G
|
|
|
NM_017433.5(MYO3A):c.2417-13T>C
|
|
|
NM_017433.5(MYO3A):c.2417-248del
|
rs10715590
|
|
NM_017433.5(MYO3A):c.2417-248dup
|
rs10715590
|
|
NM_017433.5(MYO3A):c.2417-254_2417-248del
|
rs10715590
|
|
NM_017433.5(MYO3A):c.2417-3C>T
|
rs2131857289
|
|
NM_017433.5(MYO3A):c.243C>A (p.Phe81Leu)
|
|
|
NM_017433.5(MYO3A):c.2440T>C (p.Ser814Pro)
|
rs2131857474
|
|
NM_017433.5(MYO3A):c.2492A>C (p.His831Pro)
|
|
|
NM_017433.5(MYO3A):c.2497G>C (p.Ala833Pro)
|
|
|
NM_017433.5(MYO3A):c.2500G>A (p.Gly834Arg)
|
|
|
NM_017433.5(MYO3A):c.2506-166_2506-146del
|
rs11273792
|
|
NM_017433.5(MYO3A):c.2506-60GAG[3]
|
rs35241240
|
|
NM_017433.5(MYO3A):c.250A>T (p.Ile84Leu)
|
|
|
NM_017433.5(MYO3A):c.2540A>G (p.Asn847Ser)
|
|
|
NM_017433.5(MYO3A):c.254A>G (p.Tyr85Cys)
|
|
|
NM_017433.5(MYO3A):c.2587G>A (p.Asp863Asn)
|
|
|
NM_017433.5(MYO3A):c.2588A>C (p.Asp863Ala)
|
|
|
NM_017433.5(MYO3A):c.258T>C (p.Phe86=)
|
|
|
NM_017433.5(MYO3A):c.25A>G (p.Ile9Val)
|
|
|
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=)
|
rs371741845
|
|
NM_017433.5(MYO3A):c.2635+63G>T
|
rs77096061
|
|
NM_017433.5(MYO3A):c.2636-1G>T
|
rs1564602202
|
|
NM_017433.5(MYO3A):c.2655A>C (p.Lys885Asn)
|
rs2131908863
|
|
NM_017433.5(MYO3A):c.2670A>T (p.Ile890=)
|
|
|
NM_017433.5(MYO3A):c.2682G>A (p.Met894Ile)
|
|
|
NM_017433.5(MYO3A):c.2692G>A (p.Glu898Lys)
|
|
|
NM_017433.5(MYO3A):c.2697A>G (p.Lys899=)
|
rs2131909222
|
|
NM_017433.5(MYO3A):c.2715+204T>G
|
rs115929922
|
|
NM_017433.5(MYO3A):c.2718C>A (p.Gly906=)
|
|
|
NM_017433.5(MYO3A):c.271G>T (p.Val91Leu)
|
|
|
NM_017433.5(MYO3A):c.2737C>T (p.Arg913Cys)
|
|
|
NM_017433.5(MYO3A):c.275A>G (p.Asn92Ser)
|
rs977481088
|
|
NM_017433.5(MYO3A):c.2793+20T>C
|
|
|
NM_017433.5(MYO3A):c.2793+2del
|
|
|
NM_017433.5(MYO3A):c.2820A>T (p.Lys940Asn)
|
|
|
NM_017433.5(MYO3A):c.2828T>G (p.Val943Gly)
|
|
|
NM_017433.5(MYO3A):c.2844T>C (p.Phe948=)
|
|
|
NM_017433.5(MYO3A):c.2848C>G (p.Arg950Gly)
|
rs78316055
|
|
NM_017433.5(MYO3A):c.2864A>G (p.Asn955Ser)
|
|
|
NM_017433.5(MYO3A):c.2870A>G (p.Glu957Gly)
|
rs764192576
|
|
NM_017433.5(MYO3A):c.2872C>A (p.Arg958Ser)
|
|
|
NM_017433.5(MYO3A):c.2873G>A (p.Arg958His)
|
|
|
NM_017433.5(MYO3A):c.2877G>T (p.Gln959His)
|
|
|
NM_017433.5(MYO3A):c.2879C>A (p.Ala960Glu)
|
rs2131935183
|
|
NM_017433.5(MYO3A):c.2890G>A (p.Asp964Asn)
|
rs1554836048
|
|
NM_017433.5(MYO3A):c.2917C>T (p.Arg973Trp)
|
|
|
NM_017433.5(MYO3A):c.2925A>G (p.Thr975=)
|
|
|
NM_017433.5(MYO3A):c.2971C>T (p.Arg991Trp)
|
|
|
NM_017433.5(MYO3A):c.2989T>G (p.Phe997Val)
|
|
|
NM_017433.5(MYO3A):c.3003C>T (p.Tyr1001=)
|
rs2131990421
|
|
NM_017433.5(MYO3A):c.3023C>T (p.Ser1008Leu)
|
|
|
NM_017433.5(MYO3A):c.303+152T>A
|
rs1546700
|
|
NM_017433.5(MYO3A):c.303+3_303+6del
|
|
|
NM_017433.5(MYO3A):c.304-11T>G
|
rs2130900312
|
|
NM_017433.5(MYO3A):c.304-319G>A
|
rs113396120
|
|
NM_017433.5(MYO3A):c.304-6G>C
|
|
|
NM_017433.5(MYO3A):c.3040A>G (p.Met1014Val)
|
rs1324018685
|
|
NM_017433.5(MYO3A):c.3045C>T (p.Ser1015=)
|
|
|
NM_017433.5(MYO3A):c.3059C>A (p.Ala1020Asp)
|
rs1169622632
|
|
NM_017433.5(MYO3A):c.3071A>G (p.Glu1024Gly)
|
|
|
NM_017433.5(MYO3A):c.3080G>A (p.Gly1027Asp)
|
|
|
NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter)
|
rs2131991331
|
|
NM_017433.5(MYO3A):c.3111+129_3111+140del
|
rs67163154
|
|
NM_017433.5(MYO3A):c.3112-197G>A
|
rs117740226
|
|
NM_017433.5(MYO3A):c.3112-2A>G
|
|
|
NM_017433.5(MYO3A):c.311G>T (p.Ser104Ile)
|
|
|
NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter)
|
rs193919333
|
|
NM_017433.5(MYO3A):c.3133G>T (p.Val1045Leu)
|
|
|
NM_017433.5(MYO3A):c.3154C>T (p.Arg1052Ter)
|
|
|
NM_017433.5(MYO3A):c.3174G>A (p.Lys1058=)
|
rs1172704227
|
|
NM_017433.5(MYO3A):c.3190G>A (p.Ala1064Thr)
|
|
|
NM_017433.5(MYO3A):c.3192T>A (p.Ala1064=)
|
rs1397884738
|
|
NM_017433.5(MYO3A):c.3211T>C (p.Cys1071Arg)
|
|
|
NM_017433.5(MYO3A):c.3225C>G (p.Tyr1075Ter)
|
|
|
NM_017433.5(MYO3A):c.3240G>C (p.Glu1080Asp)
|
|
|
NM_017433.5(MYO3A):c.3253A>G (p.Ser1085Gly)
|
rs1191332923
|
|
NM_017433.5(MYO3A):c.3274+5T>G
|
|
|
NM_017433.5(MYO3A):c.3314T>C (p.Ile1105Thr)
|
|
|
NM_017433.5(MYO3A):c.332T>C (p.Leu111Pro)
|
rs886046918
|
|
NM_017433.5(MYO3A):c.3334G>A (p.Ala1112Thr)
|
|
|
NM_017433.5(MYO3A):c.3383del (p.Asn1128fs)
|
|
|
NM_017433.5(MYO3A):c.3398+17T>C
|
|
|
NM_017433.5(MYO3A):c.3409G>A (p.Val1137Met)
|
|
|
NM_017433.5(MYO3A):c.3427A>T (p.Asn1143Tyr)
|
|
|
NM_017433.5(MYO3A):c.3433A>G (p.Ile1145Val)
|
|
|
NM_017433.5(MYO3A):c.3436T>C (p.Ser1146Pro)
|
rs1842167510
|
|
NM_017433.5(MYO3A):c.3447_3448del (p.Arg1150fs)
|
rs764507216
|
|
NM_017433.5(MYO3A):c.3473A>G (p.Lys1158Arg)
|
|
|
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs)
|
rs752046945
|
|
NM_017433.5(MYO3A):c.3501C>G (p.Ser1167=)
|
|
|
NM_017433.5(MYO3A):c.3574dup (p.Met1192fs)
|
rs757810767
|
|
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
|
rs372169216
|
|
NM_017433.5(MYO3A):c.3661C>G (p.Leu1221Val)
|
rs886046924
|
|
NM_017433.5(MYO3A):c.3731A>G (p.Tyr1244Cys)
|
|
|
NM_017433.5(MYO3A):c.3737_3738del (p.Glu1246fs)
|
rs2132036795
|
|
NM_017433.5(MYO3A):c.3744G>A (p.Arg1248=)
|
rs2132036817
|
|
NM_017433.5(MYO3A):c.3760A>G (p.Lys1254Glu)
|
|
|
NM_017433.5(MYO3A):c.3762A>G (p.Lys1254=)
|
|
|
NM_017433.5(MYO3A):c.3774A>T (p.Leu1258=)
|
rs1842186862
|
|
NM_017433.5(MYO3A):c.3787A>G (p.Ile1263Val)
|
|
|
NM_017433.5(MYO3A):c.3801A>G (p.Pro1267=)
|
|
|
NM_017433.5(MYO3A):c.3842T>G (p.Phe1281Cys)
|
rs876657529
|
|
NM_017433.5(MYO3A):c.3860C>G (p.Pro1287Arg)
|
|
|
NM_017433.5(MYO3A):c.3862A>G (p.Thr1288Ala)
|
rs886046925
|
|
NM_017433.5(MYO3A):c.3876del (p.Arg1292fs)
|
|
|
NM_017433.5(MYO3A):c.3920C>T (p.Thr1307Ile)
|
|
|
NM_017433.5(MYO3A):c.393A>C (p.Leu131Phe)
|
|
|
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs)
|
rs1589079163
|
|
NM_017433.5(MYO3A):c.4047A>G (p.Ala1349=)
|
|
|
NM_017433.5(MYO3A):c.4048G>A (p.Ala1350Thr)
|
|
|
NM_017433.5(MYO3A):c.4075G>A (p.Gly1359Ser)
|
|
|
NM_017433.5(MYO3A):c.4088G>A (p.Arg1363Lys)
|
rs876657530
|
|
NM_017433.5(MYO3A):c.409-21TA[2]
|
rs112520797
|
|
NM_017433.5(MYO3A):c.409-6T>C
|
|
|
NM_017433.5(MYO3A):c.409-9_409-5del
|
rs770277459
|
|
NM_017433.5(MYO3A):c.4117T>C (p.Ser1373Pro)
|
|
|
NM_017433.5(MYO3A):c.4123A>G (p.Lys1375Glu)
|
rs1227000239
|
|
NM_017433.5(MYO3A):c.4134G>T (p.Arg1378Ser)
|
|
|
NM_017433.5(MYO3A):c.4144A>C (p.Thr1382Pro)
|
|
|
NM_017433.5(MYO3A):c.4173_4174del (p.His1391fs)
|
rs768570132
|
|
NM_017433.5(MYO3A):c.4200T>C (p.His1400=)
|
|
|
NM_017433.5(MYO3A):c.4293+101C>G
|
rs3758447
|
|
NM_017433.5(MYO3A):c.4293+19T>G
|
|
|
NM_017433.5(MYO3A):c.4293+1G>C
|
|
|
NM_017433.5(MYO3A):c.4293+22_4293+25del
|
|
|
NM_017433.5(MYO3A):c.4293+4T>G
|
|
|
NM_017433.5(MYO3A):c.4293G>A (p.Gln1431=)
|
|
|
NM_017433.5(MYO3A):c.4294-12C>T
|
|
|
NM_017433.5(MYO3A):c.4294-6T>G
|
|
|
NM_017433.5(MYO3A):c.4298C>G (p.Ser1433Ter)
|
rs143896117
|
|
NM_017433.5(MYO3A):c.4309G>A (p.Glu1437Lys)
|
|
|
NM_017433.5(MYO3A):c.4341_4344del (p.Asn1447fs)
|
|
|
NM_017433.5(MYO3A):c.4358A>G (p.Gln1453Arg)
|
rs1164727921
|
|
NM_017433.5(MYO3A):c.4360C>T (p.Gln1454Ter)
|
|
|
NM_017433.5(MYO3A):c.4399_4409del (p.Pro1467fs)
|
|
|
NM_017433.5(MYO3A):c.4415T>A (p.Val1472Asp)
|
|
|
NM_017433.5(MYO3A):c.4438+11G>A
|
rs2132054803
|
|
NM_017433.5(MYO3A):c.4438+243del
|
rs144249914
|
|
NM_017433.5(MYO3A):c.4438+275T>G
|
rs6415977
|
|
NM_017433.5(MYO3A):c.4451G>A (p.Gly1484Glu)
|
|
|
NM_017433.5(MYO3A):c.4453G>A (p.Glu1485Lys)
|
|
|
NM_017433.5(MYO3A):c.4476C>G (p.Pro1492=)
|
|
|
NM_017433.5(MYO3A):c.4483C>T (p.Arg1495Ter)
|
|
|
NM_017433.5(MYO3A):c.4484G>A (p.Arg1495Gln)
|
|
|
NM_017433.5(MYO3A):c.4508_4511del (p.Asn1503fs)
|
rs757660866
|
|
NM_017433.5(MYO3A):c.4516G>A (p.Glu1506Lys)
|
|
|
NM_017433.5(MYO3A):c.4516G>C (p.Glu1506Gln)
|
|
|
NM_017433.5(MYO3A):c.4540C>A (p.Leu1514Ile)
|
|
|
NM_017433.5(MYO3A):c.4545+13C>G
|
|
|
NM_017433.5(MYO3A):c.4545+1G>C
|
rs876657652
|
|
NM_017433.5(MYO3A):c.4545+2T>G
|
|
|
NM_017433.5(MYO3A):c.4546-168C>T
|
rs144641808
|
|
NM_017433.5(MYO3A):c.4546-2994T>C
|
|
|
NM_017433.5(MYO3A):c.4552A>G (p.Ile1518Val)
|
|
|
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly)
|
rs727504688
|
|
NM_017433.5(MYO3A):c.457G>A (p.Gly153Ser)
|
rs773233985
|
|
NM_017433.5(MYO3A):c.4581A>G (p.Lys1527=)
|
|
|
NM_017433.5(MYO3A):c.4586+231dup
|
rs71401880
|
|
NM_017433.5(MYO3A):c.4586+2T>C
|
rs1843661582
|
|
NM_017433.5(MYO3A):c.4587-1G>A
|
rs1311980539
|
|
NM_017433.5(MYO3A):c.4592G>A (p.Gly1531Glu)
|
rs868284788
|
|
NM_017433.5(MYO3A):c.4608G>T (p.Leu1536Phe)
|
rs753362191
|
|
NM_017433.5(MYO3A):c.4641T>C (p.Ser1547=)
|
|
|
NM_017433.5(MYO3A):c.4643G>A (p.Arg1548His)
|
rs142609832
|
|
NM_017433.5(MYO3A):c.4662T>G (p.His1554Gln)
|
|
|
NM_017433.5(MYO3A):c.4664G>T (p.Ser1555Ile)
|
|
|
NM_017433.5(MYO3A):c.4685G>C (p.Arg1562Thr)
|
|
|
NM_017433.5(MYO3A):c.4714A>G (p.Ile1572Val)
|
|
|
NM_017433.5(MYO3A):c.4731-198C>T
|
rs115874369
|
|
NM_017433.5(MYO3A):c.4737G>A (p.Trp1579Ter)
|
|
|
NM_017433.5(MYO3A):c.4743G>A (p.Ala1581=)
|
rs886046927
|
|
NM_017433.5(MYO3A):c.4752C>G (p.Pro1584=)
|
rs562384478
|
|
NM_017433.5(MYO3A):c.4764G>T (p.Glu1588Asp)
|
|
|
NM_017433.5(MYO3A):c.4770A>G (p.Arg1590=)
|
|
|
NM_017433.5(MYO3A):c.4771G>C (p.Glu1591Gln)
|
|
|
NM_017433.5(MYO3A):c.4791C>G (p.Tyr1597Ter)
|
rs779121070
|
|
NM_017433.5(MYO3A):c.4806C>T (p.Leu1602=)
|
|
|
NM_017433.5(MYO3A):c.487G>A (p.Gly163Arg)
|
|
|
NM_017433.5(MYO3A):c.508+19G>A
|
|
|
NM_017433.5(MYO3A):c.508+19G>T
|
|
|
NM_017433.5(MYO3A):c.508+236C>T
|
rs116294059
|
|
NM_017433.5(MYO3A):c.508+2T>C
|
|
|
NM_017433.5(MYO3A):c.508+36A>T
|
rs75002566
|
|
NM_017433.5(MYO3A):c.531T>G (p.Ser177Arg)
|
rs1346197951
|
|
NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer)
|
rs773432148
|
|
NM_017433.5(MYO3A):c.567G>A (p.Pro189=)
|
|
|
NM_017433.5(MYO3A):c.585+10A>T
|
|
|
NM_017433.5(MYO3A):c.585+3C>T
|
rs200381660
|
|
NM_017433.5(MYO3A):c.594A>C (p.Ala198=)
|
|
|
NM_017433.5(MYO3A):c.594A>T (p.Ala198=)
|
|
|
NM_017433.5(MYO3A):c.615C>A (p.Thr205=)
|
rs55634590
|
|
NM_017433.5(MYO3A):c.625G>A (p.Ala209Thr)
|
rs777926817
|
|
NM_017433.5(MYO3A):c.644C>T (p.Ser215Phe)
|
|
|
NM_017433.5(MYO3A):c.680A>G (p.Asp227Gly)
|
rs1842309816
|
|
NM_017433.5(MYO3A):c.680A>T (p.Asp227Val)
|
rs1842309816
|
|
NM_017433.5(MYO3A):c.716T>C (p.Leu239Pro)
|
|
|
NM_017433.5(MYO3A):c.722A>G (p.Lys241Arg)
|
|
|
NM_017433.5(MYO3A):c.731+15A>T
|
rs183347061
|
|
NM_017433.5(MYO3A):c.731+4A>T
|
rs1184463802
|
|
NM_017433.5(MYO3A):c.731+4_731+5insTA
|
rs727505119
|
|
NM_017433.5(MYO3A):c.732-2A>C
|
|
|
NM_017433.5(MYO3A):c.732-2A>G
|
rs1023746725
|
|
NM_017433.5(MYO3A):c.732-3T>C
|
rs201712584
|
|
NM_017433.5(MYO3A):c.743dup (p.Leu250fs)
|
|
|
NM_017433.5(MYO3A):c.745A>C (p.Lys249Gln)
|
|
|
NM_017433.5(MYO3A):c.76_77delinsTA (p.Thr26Ter)
|
|
|
NM_017433.5(MYO3A):c.790A>G (p.Ile264Val)
|
rs773997906
|
|
NM_017433.5(MYO3A):c.798-16T>C
|
|
|
NM_017433.5(MYO3A):c.798-17C>A
|
|
|
NM_017433.5(MYO3A):c.804G>C (p.Leu268Phe)
|
|
|
NM_017433.5(MYO3A):c.832G>A (p.Val278Met)
|
|
|
NM_017433.5(MYO3A):c.844T>C (p.Leu282=)
|
|
|
NM_017433.5(MYO3A):c.893A>T (p.Gln298Leu)
|
rs2131116938
|
|
NM_017433.5(MYO3A):c.905C>T (p.Thr302Met)
|
|
|
NM_017433.5(MYO3A):c.938G>A (p.Gly313Asp)
|
rs527881627
|
|
NM_017433.5(MYO3A):c.953+2T>C
|
|
|
NM_017433.5(MYO3A):c.989A>C (p.Asn330Thr)
|
|
|
NM_017433.5(MYO3A):c.989A>G (p.Asn330Ser)
|
rs777804932
|
|
NM_017433.5(MYO3A):c.992G>A (p.Arg331Gln)
|
|
|
NM_017433.5(MYO3A):c.994C>T (p.Pro332Ser)
|
|
|