ClinVar Miner

List of variants in gene MMAB

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 453
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HGVS dbSNP gnomAD frequency
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

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