NM_052845.4(MMAB):c.348+105T>C
|
rs10850380
|
0.58164
|
NM_052845.4(MMAB):c.584+254A>G
|
rs2058805
|
0.58162
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_052845.4(MMAB):c.645-156T>C
|
rs888192
|
0.57808
|
NM_052845.4(MMAB):c.*1230G>T
|
rs11067231
|
0.57792
|
NM_052845.4(MMAB):c.*857G>C
|
rs877710
|
0.57567
|
NM_052845.4(MMAB):c.134+286T>C
|
rs12314392
|
0.48699
|
NM_052845.4(MMAB):c.348+147G>A
|
rs10850379
|
0.40515
|
NM_052845.4(MMAB):c.*2701G>C
|
rs2241201
|
0.33323
|
NM_052845.4(MMAB):c.290+63T>C
|
rs11836136
|
0.32654
|
NM_052845.4(MMAB):c.135-241T>C
|
rs12322541
|
0.32362
|
NM_052845.4(MMAB):c.*3148G>A
|
rs11067227
|
0.24433
|
NM_052845.4(MMAB):c.*625G>C
|
rs11067233
|
0.24420
|
NM_052845.4(MMAB):c.*891C>A
|
rs877709
|
0.24416
|
NM_052845.4(MMAB):c.349-207A>G
|
rs11067271
|
0.18342
|
NM_052845.4(MMAB):c.*1535G>A
|
rs34921355
|
0.17160
|
NM_052845.4(MMAB):c.*2835T>C
|
rs12817689
|
0.17090
|
NM_052845.4(MMAB):c.519+157C>T
|
rs2287180
|
0.17065
|
NM_052845.4(MMAB):c.520-128C>T
|
rs2287181
|
0.17054
|
NM_052845.4(MMAB):c.520-96C>T
|
rs11610545
|
0.17048
|
NM_052845.4(MMAB):c.*2684G>C
|
rs35145546
|
0.16925
|
NM_052845.4(MMAB):c.644+212C>T
|
rs35072126
|
0.16920
|
NM_052845.4(MMAB):c.520-139G>A
|
rs12309115
|
0.11426
|
NM_052845.4(MMAB):c.645-247G>A
|
rs12828717
|
0.11313
|
NM_052845.4(MMAB):c.585-204G>A
|
rs2287182
|
0.10962
|
NM_052845.4(MMAB):c.*1467C>T
|
rs1061440
|
0.10807
|
NM_052845.4(MMAB):c.*192T>C
|
rs8228
|
0.10802
|
NM_052845.4(MMAB):c.*1952T>C
|
rs61940463
|
0.10789
|
NM_052845.4(MMAB):c.*1810G>A
|
rs73414076
|
0.10702
|
NM_052845.4(MMAB):c.*721T>G
|
rs11831226
|
0.09002
|
NM_052845.4(MMAB):c.585-174G>A
|
rs2287183
|
0.08550
|
NM_052845.4(MMAB):c.*378T>A
|
rs66497319
|
0.08528
|
NM_052845.4(MMAB):c.348+177C>T
|
rs61940511
|
0.08338
|
NM_052845.4(MMAB):c.584+24A>G
|
rs78599682
|
0.07555
|
NM_052845.4(MMAB):c.*656C>A
|
rs11067232
|
0.06631
|
NM_052845.4(MMAB):c.*1729A>C
|
rs559163901
|
0.06120
|
NM_052845.4(MMAB):c.*376T>A
|
rs527861371
|
0.05729
|
NM_052845.4(MMAB):c.585-262G>A
|
rs72650185
|
0.05447
|
NM_052845.4(MMAB):c.*1005A>G
|
rs67432283
|
0.05428
|
NM_052845.4(MMAB):c.196+279A>C
|
rs72651703
|
0.05426
|
NM_052845.4(MMAB):c.*1409G>A
|
rs72650177
|
0.05424
|
NM_052845.4(MMAB):c.584+251G>A
|
rs68153744
|
0.05424
|
NM_052845.4(MMAB):c.*368T>A
|
rs773284148
|
0.05387
|
NM_052845.4(MMAB):c.135-23T>C
|
rs66580225
|
0.05340
|
NM_052845.4(MMAB):c.*1657G>A
|
rs111869218
|
0.05172
|
NM_052845.4(MMAB):c.644+213G>A
|
rs112082462
|
0.05154
|
NM_052845.4(MMAB):c.290+204C>T
|
rs113284916
|
0.04200
|
NM_052845.4(MMAB):c.*3178C>A
|
rs73414071
|
0.02490
|
NM_052845.4(MMAB):c.*2628C>T
|
rs73414074
|
0.02477
|
NM_052845.4(MMAB):c.*564G>C
|
rs56760240
|
0.02466
|
NM_052845.4(MMAB):c.*374T>A
|
rs549601416
|
0.02435
|
NM_052845.4(MMAB):c.585-203T>C
|
rs74581509
|
0.01734
|
NM_052845.4(MMAB):c.*380A>T
|
rs74967596
|
0.01505
|
NM_052845.4(MMAB):c.520-127G>A
|
rs114996305
|
0.01034
|
NM_052845.4(MMAB):c.585-127C>T
|
rs116420868
|
0.00920
|
NM_052845.4(MMAB):c.584+51A>G
|
rs775209162
|
0.00898
|
NM_052845.4(MMAB):c.134+203A>G
|
rs67900037
|
0.00877
|
NM_052845.4(MMAB):c.644+72C>T
|
rs7294475
|
0.00756
|
NM_052845.4(MMAB):c.349-17T>C
|
rs72650187
|
0.00583
|
NM_052845.4(MMAB):c.*3019A>G
|
rs78065254
|
0.00564
|
NM_052845.4(MMAB):c.*3295C>T
|
rs144430513
|
0.00304
|
NM_052845.4(MMAB):c.*1088A>T
|
rs142486697
|
0.00303
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
NM_052845.4(MMAB):c.*2186T>C
|
rs147647465
|
0.00246
|
NM_052845.4(MMAB):c.*1685G>A
|
rs117011771
|
0.00244
|
NM_052845.4(MMAB):c.*404T>G
|
rs148289390
|
0.00240
|
NM_052845.4(MMAB):c.*1067C>T
|
rs143292900
|
0.00226
|
NM_052845.4(MMAB):c.519+98C>T
|
rs185428244
|
0.00198
|
NM_052845.4(MMAB):c.135-38dup
|
rs140204601
|
0.00165
|
NM_052845.4(MMAB):c.*2342G>A
|
rs72650176
|
0.00162
|
NM_052845.4(MMAB):c.624C>T (p.Asn208=)
|
rs146687452
|
0.00146
|
NM_052845.4(MMAB):c.*1988C>T
|
rs183354300
|
0.00111
|
NM_052845.4(MMAB):c.*2023C>T
|
rs546885397
|
0.00091
|
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)
|
rs147457956
|
0.00085
|
NM_052845.4(MMAB):c.*3265A>G
|
rs776804847
|
0.00050
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
NM_052845.4(MMAB):c.*961G>A
|
rs541447661
|
0.00041
|
NM_052845.4(MMAB):c.*2740G>A
|
rs139886832
|
0.00035
|
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
|
rs147297426
|
0.00032
|
NM_052845.4(MMAB):c.*3043T>G
|
rs771530065
|
0.00031
|
NM_052845.4(MMAB):c.*503G>A
|
rs766339289
|
0.00031
|
NM_052845.4(MMAB):c.*2051C>T
|
rs775263273
|
0.00026
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
NM_052845.4(MMAB):c.*3142G>A
|
rs747166756
|
0.00020
|
NM_052845.4(MMAB):c.*2914G>A
|
rs759971406
|
0.00019
|
NM_052845.4(MMAB):c.*2636A>G
|
rs748949434
|
0.00017
|
NM_052845.4(MMAB):c.*554G>A
|
rs562420933
|
0.00016
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
|
rs200690789
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
NM_052845.4(MMAB):c.*2053C>T
|
rs545623412
|
0.00013
|
NM_052845.4(MMAB):c.*1482C>T
|
rs576738108
|
0.00012
|
NM_052845.4(MMAB):c.584+6A>G
|
rs767719463
|
0.00012
|
NM_052845.4(MMAB):c.*1689C>T
|
rs886093880
|
0.00011
|
NM_052845.4(MMAB):c.*3074C>T
|
rs186602321
|
0.00011
|
NM_052845.4(MMAB):c.666G>A (p.Thr222=)
|
rs369296142
|
0.00011
|
NM_052845.4(MMAB):c.*2503G>A
|
rs886048916
|
0.00010
|
NM_052845.4(MMAB):c.*509C>T
|
rs886048923
|
0.00010
|
NM_052845.4(MMAB):c.*301C>T
|
rs1053960970
|
0.00009
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
|
rs138708209
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_052845.4(MMAB):c.*1683G>A
|
rs572832766
|
0.00006
|
NM_052845.4(MMAB):c.*335G>A
|
rs745373257
|
0.00006
|
NM_052845.4(MMAB):c.*691A>C
|
rs886048922
|
0.00006
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
|
rs764683053
|
0.00006
|
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
|
rs143935056
|
0.00006
|
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)
|
rs925180956
|
0.00006
|
NM_052845.4(MMAB):c.*424G>A
|
rs551461624
|
0.00005
|
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu)
|
rs551289581
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
NM_052845.4(MMAB):c.*2679G>C
|
rs546327751
|
0.00004
|
NM_052845.4(MMAB):c.*588C>T
|
rs1214904926
|
0.00004
|
NM_052845.4(MMAB):c.*815T>C
|
rs776724872
|
0.00004
|
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
|
rs752857938
|
0.00004
|
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile)
|
rs762404377
|
0.00004
|
NM_052845.4(MMAB):c.348+17C>T
|
rs202141416
|
0.00004
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
NM_052845.4(MMAB):c.471C>T (p.Ile157=)
|
rs369581051
|
0.00004
|
NM_052845.4(MMAB):c.542C>T (p.Ala181Val)
|
rs764164596
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
NM_052845.4(MMAB):c.*1428C>T
|
rs757325398
|
0.00003
|
NM_052845.4(MMAB):c.*2739C>T
|
rs759550993
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu)
|
rs765917146
|
0.00003
|
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
|
rs573706523
|
0.00003
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00003
|
NM_052845.4(MMAB):c.507C>T (p.Ala169=)
|
rs776916498
|
0.00003
|
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
|
rs368584846
|
0.00003
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
|
rs199853576
|
0.00003
|
NM_052845.4(MMAB):c.644+9G>A
|
rs748589454
|
0.00003
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
NM_052845.4(MMAB):c.*1747A>G
|
rs886048917
|
0.00002
|
NM_052845.4(MMAB):c.*2619A>T
|
rs778528128
|
0.00002
|
NM_052845.4(MMAB):c.*2783G>A
|
rs1012338830
|
0.00002
|
NM_052845.4(MMAB):c.*2890C>T
|
rs1005573398
|
0.00002
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser)
|
rs193015172
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
|
rs780166156
|
0.00002
|
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
|
rs1461731163
|
0.00002
|
NM_052845.4(MMAB):c.644+8C>T
|
rs770159367
|
0.00002
|
NM_052845.4(MMAB):c.645-6C>T
|
rs766039550
|
0.00002
|
NM_052845.4(MMAB):c.685A>G (p.Met229Val)
|
rs371960953
|
0.00002
|
NM_052845.4(MMAB):c.*2913C>T
|
rs901387869
|
0.00001
|
NM_052845.4(MMAB):c.*716C>T
|
rs886048921
|
0.00001
|
NM_052845.4(MMAB):c.135-4T>C
|
rs1025409144
|
0.00001
|
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
|
rs759809454
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
|
rs571555515
|
0.00001
|
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
|
rs770743560
|
0.00001
|
NM_052845.4(MMAB):c.255C>T (p.Ala85=)
|
rs894225131
|
0.00001
|
NM_052845.4(MMAB):c.348+10_348+13del
|
rs775340018
|
0.00001
|
NM_052845.4(MMAB):c.348+7A>G
|
rs769138883
|
0.00001
|
NM_052845.4(MMAB):c.348+9C>T
|
rs747459155
|
0.00001
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
|
rs1393235772
|
0.00001
|
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
|
rs1055749855
|
0.00001
|
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)
|
rs778169806
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
NM_052845.4(MMAB):c.422-6C>T
|
rs759110803
|
0.00001
|
NM_052845.4(MMAB):c.423G>A (p.Lys141=)
|
rs1474862262
|
0.00001
|
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
|
rs886198506
|
0.00001
|
NM_052845.4(MMAB):c.432G>C (p.Thr144=)
|
rs200127370
|
0.00001
|
NM_052845.4(MMAB):c.451C>T (p.Leu151=)
|
rs1884202824
|
0.00001
|
NM_052845.4(MMAB):c.456G>A (p.Glu152=)
|
rs1884202411
|
0.00001
|
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
|
rs767045171
|
0.00001
|
NM_052845.4(MMAB):c.465G>A (p.Gln155=)
|
rs1323701026
|
0.00001
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)
|
rs758790126
|
0.00001
|
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
|
rs138069953
|
0.00001
|
NM_052845.4(MMAB):c.540G>A (p.Ser180=)
|
rs754311573
|
0.00001
|
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
|
rs145411521
|
0.00001
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_052845.4(MMAB):c.615C>T (p.Thr205=)
|
rs760629956
|
0.00001
|
NM_052845.4(MMAB):c.625G>A (p.Val209Met)
|
rs200903284
|
0.00001
|
NM_052845.4(MMAB):c.644+6C>T
|
rs376868629
|
0.00001
|
NM_052845.4(MMAB):c.645-4C>T
|
rs1057521493
|
0.00001
|
NM_052845.4(MMAB):c.645-8C>G
|
rs1251570137
|
0.00001
|
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
|
rs940651669
|
0.00001
|
NC_000012.11:g.(?_109991510)_(109994951_?)del
|
|
|
NC_000012.12:g.(?_109561020)_(109565196_?)del
|
|
|
NM_052845.4(MMAB):c.*1076_*1079del
|
rs886048920
|
|
NM_052845.4(MMAB):c.*1121C>T
|
rs562046988
|
|
NM_052845.4(MMAB):c.*1400G>A
|
rs1883946986
|
|
NM_052845.4(MMAB):c.*1554_*1556del
|
rs886048918
|
|
NM_052845.4(MMAB):c.*1554del
|
rs886048919
|
|
NM_052845.4(MMAB):c.*1576_*1578del
|
rs34507867
|
|
NM_052845.4(MMAB):c.*1577_*1578del
|
rs34507867
|
|
NM_052845.4(MMAB):c.*1578del
|
rs34507867
|
|
NM_052845.4(MMAB):c.*1748_*1752dup
|
rs746823302
|
|
NM_052845.4(MMAB):c.*1859TA[10]
|
rs10623308
|
|
NM_052845.4(MMAB):c.*1859TA[7]
|
rs10623308
|
|
NM_052845.4(MMAB):c.*1859TA[9]
|
rs10623308
|
|
NM_052845.4(MMAB):c.*2150A>G
|
rs781473185
|
|
NM_052845.4(MMAB):c.*2326C>G
|
rs1210681751
|
|
NM_052845.4(MMAB):c.*2392C>T
|
rs1883900272
|
|
NM_052845.4(MMAB):c.*2736G>C
|
rs747163137
|
|
NM_052845.4(MMAB):c.*2950C>T
|
rs766894935
|
|
NM_052845.4(MMAB):c.*3027T>C
|
rs1883879729
|
|
NM_052845.4(MMAB):c.*3152A>T
|
rs886048915
|
|
NM_052845.4(MMAB):c.*3260G>A
|
rs1883871954
|
|
NM_052845.4(MMAB):c.*3296G>A
|
rs777939885
|
|
NM_052845.4(MMAB):c.*336TG[19]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[20]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[21]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[23]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[24]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[25]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*348T>G
|
rs1883987573
|
|
NM_052845.4(MMAB):c.*364_*378delinsAGA
|
rs886048926
|
|
NM_052845.4(MMAB):c.*366_*378delinsAGA
|
rs886048925
|
|
NM_052845.4(MMAB):c.*368_*378delinsA
|
rs886048924
|
|
NM_052845.4(MMAB):c.*368_*378delinsAGA
|
rs886048924
|
|
NM_052845.4(MMAB):c.*380AG[3]
|
rs370296168
|
|
NM_052845.4(MMAB):c.*380AG[5]
|
rs370296168
|
|
NM_052845.4(MMAB):c.*422T>C
|
rs1883979155
|
|
NM_052845.4(MMAB):c.*710C>T
|
rs538702791
|
|
NM_052845.4(MMAB):c.135-12A>T
|
|
|
NM_052845.4(MMAB):c.135-19G>A
|
|
|
NM_052845.4(MMAB):c.135-1G>A
|
rs1566137903
|
|
NM_052845.4(MMAB):c.135-8C>T
|
rs2136210870
|
|
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)
|
|
|
NM_052845.4(MMAB):c.144T>G (p.Pro48=)
|
rs2136210832
|
|
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
|
|
|
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
|
rs2136210801
|
|
NM_052845.4(MMAB):c.165C>T (p.Ile55=)
|
rs2136210798
|
|
NM_052845.4(MMAB):c.177C>T (p.Tyr59=)
|
rs2136210789
|
|
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
|
|
|
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
|
|
|
NM_052845.4(MMAB):c.189A>G (p.Gly63=)
|
rs2136210776
|
|
NM_052845.4(MMAB):c.196+13C>G
|
|
|
NM_052845.4(MMAB):c.196+17T>G
|
|
|
NM_052845.4(MMAB):c.196+9G>A
|
|
|
NM_052845.4(MMAB):c.197-12T>C
|
|
|
NM_052845.4(MMAB):c.197-146C>A
|
rs12830693
|
|
NM_052845.4(MMAB):c.197-14A>G
|
|
|
NM_052845.4(MMAB):c.197-15C>A
|
|
|
NM_052845.4(MMAB):c.197-1G>A
|
rs763935916
|
|
NM_052845.4(MMAB):c.197-2del
|
rs1555275604
|
|
NM_052845.4(MMAB):c.197-7T>C
|
|
|
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
|
rs147297426
|
|
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
|
|
|
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
|
rs2136208377
|
|
NM_052845.4(MMAB):c.222A>G (p.Glu74=)
|
rs1389815526
|
|
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)
|
rs1389815526
|
|
NM_052845.4(MMAB):c.225G>A (p.Arg75=)
|
rs267603297
|
|
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
|
|
|
NM_052845.4(MMAB):c.242A>G (p.Gln81Arg)
|
|
|
NM_052845.4(MMAB):c.243A>G (p.Gln81=)
|
rs1473011297
|
|
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
|
rs1185132313
|
|
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu)
|
rs2136208348
|
|
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
|
|
|
NM_052845.4(MMAB):c.258G>A (p.Val86=)
|
rs2136208331
|
|
NM_052845.4(MMAB):c.266del (p.Thr89fs)
|
|
|
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr)
|
rs864309509
|
|
NM_052845.4(MMAB):c.290+12A>G
|
|
|
NM_052845.4(MMAB):c.290+19G>T
|
|
|
NM_052845.4(MMAB):c.290+1G>A
|
rs1351673148
|
|
NM_052845.4(MMAB):c.290+2T>C
|
rs2136208277
|
|
NM_052845.4(MMAB):c.290+7G>C
|
|
|
NM_052845.4(MMAB):c.290+8G>T
|
|
|
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)
|
rs864309511
|
|
NM_052845.4(MMAB):c.291-15C>G
|
|
|
NM_052845.4(MMAB):c.291-16del
|
|
|
NM_052845.4(MMAB):c.291-18T>C
|
|
|
NM_052845.4(MMAB):c.291-1G>T
|
rs199971687
|
|
NM_052845.4(MMAB):c.291-3dup
|
rs2136203965
|
|
NM_052845.4(MMAB):c.291-5C>G
|
|
|
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
|
|
|
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
|
rs2136203950
|
|
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
|
|
|
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
|
|
|
NM_052845.4(MMAB):c.330del (p.Phe110fs)
|
rs2136203888
|
|
NM_052845.4(MMAB):c.334G>A (p.Glu112Lys)
|
|
|
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)
|
|
|
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
|
rs2136203868
|
|
NM_052845.4(MMAB):c.342T>A (p.Leu114=)
|
rs2136203863
|
|
NM_052845.4(MMAB):c.348+11C>T
|
|
|
NM_052845.4(MMAB):c.348+19C>T
|
rs1057522102
|
|
NM_052845.4(MMAB):c.348+20C>G
|
|
|
NM_052845.4(MMAB):c.348+2_348+3del
|
rs2136203848
|
|
NM_052845.4(MMAB):c.349-14C>G
|
|
|
NM_052845.4(MMAB):c.349-1G>C
|
rs864309510
|
|
NM_052845.4(MMAB):c.349-20C>T
|
|
|
NM_052845.4(MMAB):c.349-4C>G
|
rs2136199982
|
|
NM_052845.4(MMAB):c.349-5C>G
|
|
|
NM_052845.4(MMAB):c.349-5C>T
|
rs1228758269
|
|
NM_052845.4(MMAB):c.349-6C>T
|
|
|
NM_052845.4(MMAB):c.349-8C>A
|
|
|
NM_052845.4(MMAB):c.349-8C>G
|
rs1468191738
|
|
NM_052845.4(MMAB):c.349-8C>T
|
rs1468191738
|
|
NM_052845.4(MMAB):c.349-8dup
|
rs759049347
|
|
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)
|
|
|
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
|
|
|
NM_052845.4(MMAB):c.367del (p.Asp123fs)
|
rs1387128853
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
NM_052845.4(MMAB):c.378G>T (p.Ser126=)
|
rs749452007
|
|
NM_052845.4(MMAB):c.381C>T (p.Ala127=)
|
rs1204546700
|
|
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del)
|
rs1555274650
|
|
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
|
|
|
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
|
rs763783083
|
|
NM_052845.4(MMAB):c.408G>A (p.Arg136=)
|
rs760995089
|
|
NM_052845.4(MMAB):c.414T>C (p.Ala138=)
|
|
|
NM_052845.4(MMAB):c.414T>G (p.Ala138=)
|
rs2136199754
|
|
NM_052845.4(MMAB):c.417C>T (p.His139=)
|
rs2136199746
|
|
NM_052845.4(MMAB):c.418T>C (p.Leu140=)
|
rs768054177
|
|
NM_052845.4(MMAB):c.421+14T>A
|
rs760915792
|
|
NM_052845.4(MMAB):c.421+18G>C
|
|
|
NM_052845.4(MMAB):c.421+1G>A
|
rs2136199734
|
|
NM_052845.4(MMAB):c.421+7C>A
|
|
|
NM_052845.4(MMAB):c.422-19del
|
|
|
NM_052845.4(MMAB):c.422-1G>A
|
|
|
NM_052845.4(MMAB):c.422-1G>C
|
rs2136199436
|
|
NM_052845.4(MMAB):c.422-5_422-3del
|
rs2136199438
|
|
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
|
|
|
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
|
|
|
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
|
|
|
NM_052845.4(MMAB):c.432G>A (p.Thr144=)
|
rs200127370
|
|
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
|
|
|
NM_052845.4(MMAB):c.441G>A (p.Ala147=)
|
rs1038979872
|
|
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
|
rs1038979872
|
|
NM_052845.4(MMAB):c.444G>T (p.Gly148=)
|
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter)
|
rs2136199292
|
|
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)
|
rs1392513631
|
|
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)
|
|
|
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter)
|
rs2136199270
|
|
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
|
rs1884201610
|
|
NM_052845.4(MMAB):c.483C>T (p.Thr161=)
|
|
|
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter)
|
rs2136199221
|
|
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe)
|
rs1393437649
|
|
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
|
|
|
NM_052845.4(MMAB):c.502dup (p.Thr168fs)
|
|
|
NM_052845.4(MMAB):c.513C>A (p.Ile171=)
|
|
|
NM_052845.4(MMAB):c.513C>T (p.Ile171=)
|
rs2136199131
|
|
NM_052845.4(MMAB):c.519+10G>A
|
rs771725706
|
|
NM_052845.4(MMAB):c.519+13C>T
|
|
|
NM_052845.4(MMAB):c.519+16G>A
|
|
|
NM_052845.4(MMAB):c.519+17C>T
|
rs1884195985
|
|
NM_052845.4(MMAB):c.519+19T>A
|
|
|
NM_052845.4(MMAB):c.519+1G>A
|
rs1592998207
|
|
NM_052845.4(MMAB):c.520-15C>T
|
|
|
NM_052845.4(MMAB):c.520-18G>A
|
|
|
NM_052845.4(MMAB):c.520-19T>C
|
|
|
NM_052845.4(MMAB):c.520-20A>G
|
|
|
NM_052845.4(MMAB):c.520-4T>C
|
|
|
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)
|
|
|
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr)
|
rs1439180009
|
|
NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)
|
|
|
NM_052845.4(MMAB):c.545_570del (p.Leu182fs)
|
|
|
NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)
|
|
|
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
|
rs767774574
|
|
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
|
|
|
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
|
|
|
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
|
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
|
|
|
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs)
|
rs2136198361
|
|
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla)
|
rs2136198351
|
|
NM_052845.4(MMAB):c.561C>G (p.Ala187=)
|
rs370773720
|
|
NM_052845.4(MMAB):c.563T>G (p.Val188Gly)
|
rs869320654
|
|
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.564G>A (p.Val188=)
|
|
|
NM_052845.4(MMAB):c.565_577del (p.Cys189fs)
|
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
NM_052845.4(MMAB):c.568C>G (p.Arg190Gly)
|
rs398124434
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
|
|
|
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
|
|
|
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)
|
|
|
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)
|
|
|
NM_052845.4(MMAB):c.573G>C (p.Arg191=)
|
rs2136198226
|
|
NM_052845.4(MMAB):c.573_577del (p.Ala192fs)
|
rs1555274497
|
|
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)
|
rs1555274497
|
|
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.574dup (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln)
|
rs749758687
|
|
NM_052845.4(MMAB):c.578_584dup (p.Val196fs)
|
rs1555274493
|
|
NM_052845.4(MMAB):c.579G>A (p.Glu193=)
|
rs2136198146
|
|
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly)
|
rs2136198139
|
|
NM_052845.4(MMAB):c.581_582del (p.Arg194fs)
|
rs1592997663
|
|
NM_052845.4(MMAB):c.581_582dup (p.Arg195fs)
|
rs1592997663
|
|
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser)
|
rs1057519147
|
|
NM_052845.4(MMAB):c.583_584+18del
|
rs1555274484
|
|
NM_052845.4(MMAB):c.584+12G>A
|
|
|
NM_052845.4(MMAB):c.584+14_584+33del
|
rs1555274482
|
|
NM_052845.4(MMAB):c.584+8G>C
|
|
|
NM_052845.4(MMAB):c.584+9G>C
|
|
|
NM_052845.4(MMAB):c.585-10C>T
|
rs375474421
|
|
NM_052845.4(MMAB):c.585-12C>T
|
|
|
NM_052845.4(MMAB):c.585-16T>A
|
|
|
NM_052845.4(MMAB):c.585-16T>C
|
|
|
NM_052845.4(MMAB):c.585-17G>A
|
|
|
NM_052845.4(MMAB):c.585-18T>C
|
|
|
NM_052845.4(MMAB):c.585-2A>C
|
rs1555274254
|
|
NM_052845.4(MMAB):c.585-4C>G
|
rs2136195288
|
|
NM_052845.4(MMAB):c.585-9C>T
|
|
|
NM_052845.4(MMAB):c.591G>A (p.Val197=)
|
rs2136195257
|
|
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu)
|
rs886048927
|
|
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
|
|
|
NM_052845.4(MMAB):c.604A>G (p.Met202Val)
|
rs1884098738
|
|
NM_052845.4(MMAB):c.615C>G (p.Thr205=)
|
rs760629956
|
|
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
|
|
|
NM_052845.4(MMAB):c.621G>A (p.Ala207=)
|
|
|
NM_052845.4(MMAB):c.621G>C (p.Ala207=)
|
|
|
NM_052845.4(MMAB):c.633G>A (p.Lys211=)
|
|
|
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter)
|
rs2136195113
|
|
NM_052845.4(MMAB):c.644+14A>C
|
|
|
NM_052845.4(MMAB):c.644+17T>C
|
|
|
NM_052845.4(MMAB):c.644+1G>A
|
rs1592996077
|
|
NM_052845.4(MMAB):c.644+60GCAGCGGT[3]
|
rs72650184
|
|
NM_052845.4(MMAB):c.644+7dup
|
|
|
NM_052845.4(MMAB):c.645-16C>A
|
|
|
NM_052845.4(MMAB):c.645-20CT[6]
|
|
|
NM_052845.4(MMAB):c.645-7C>T
|
|
|
NM_052845.4(MMAB):c.645-8C>T
|
|
|
NM_052845.4(MMAB):c.649dup (p.Ser217fs)
|
|
|
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)
|
rs2136192612
|
|
NM_052845.4(MMAB):c.651T>G (p.Ser217Arg)
|
rs2136192609
|
|
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
|
|
|
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)
|
rs2136192590
|
|
NM_052845.4(MMAB):c.660C>G (p.Leu220=)
|
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
|
rs369296142
|
|
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
|
|
|
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
|
|
|
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
|
|
|
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
|
|
|
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
|
|
|
NM_052845.4(MMAB):c.716_718delinsAGT (p.Met239_Lys240delinsLysTer)
|
|
|
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
|
|
|
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
|
|
|
NM_052845.4(MMAB):c.732G>C (p.Ser244=)
|
rs186864802
|
|
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
|
rs377015836
|
|
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
|
rs377015836
|
|