ClinVar Miner

List of variants in gene MTR

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1256
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.*1361A>G rs1050993 0.72163
NM_000254.3(MTR):c.*1254A>C rs2853523 0.72155
NM_000254.3(MTR):c.*4639G>T rs10925264 0.72134
NM_000254.3(MTR):c.3598+147_3598+150dup rs75739277 0.72009
NM_000254.3(MTR):c.2775+43G>A rs2275566 0.71783
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_000254.3(MTR):c.34+215G>A rs12354209 0.69273
NM_000254.3(MTR):c.3007+156T>A rs3768150 0.69149
NM_000254.3(MTR):c.609+1365G>A rs6694576 0.69030
NM_000254.3(MTR):c.*2391G>C rs1050996 0.68841
NM_000254.3(MTR):c.3204+170A>G rs2282369 0.68165
NM_000254.3(MTR):c.2043+111T>C rs10925254 0.65126
NM_000254.3(MTR):c.2474-198G>A rs4659737 0.64451
NM_000254.3(MTR):c.2044-311C>G rs10802565 0.64141
NM_000254.3(MTR):c.*3682T>G rs6676866 0.57357
NM_000254.3(MTR):c.*4382C>T rs4659746 0.56629
NM_000254.3(MTR):c.3406-296C>T rs12070633 0.55737
NM_000254.3(MTR):c.3205-49G>A rs2297965 0.55673
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_000254.3(MTR):c.2044-11G>T rs570088952 0.46085
NM_000254.3(MTR):c.2044-9C>T rs531027742 0.43868
NM_000254.3(MTR):c.2043+172A>G rs45534439 0.43232
NM_000254.3(MTR):c.1953+235G>T rs2891796 0.42686
NM_000254.3(MTR):c.1695+270G>A rs10925248 0.42667
NM_000254.3(MTR):c.2044-323A>G rs4545327 0.42468
NM_000254.3(MTR):c.2474-18T>A rs10925256 0.42308
NM_000254.3(MTR):c.765-234G>A rs3890786 0.36919
NM_000254.3(MTR):c.1515+133A>C rs55748381 0.35477
NM_000254.3(MTR):c.1515+27A>G rs3820568 0.35476
NM_000254.3(MTR):c.2851+212C>T rs12065382 0.35074
NM_000254.3(MTR):c.1516-271T>C rs4659731 0.35064
NM_000254.3(MTR):c.865+271G>T rs4077829 0.34980
NM_000254.3(MTR):c.670-152A>G rs3795708 0.34915
NM_000254.3(MTR):c.1516-93del rs146375090 0.34884
NM_000254.3(MTR):c.3205-468C>G rs59221825 0.34770
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.609+903A>T rs4639750 0.34635
NM_000254.3(MTR):c.928-238C>T rs1856769 0.34606
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_000254.3(MTR):c.*2560A>G rs9779 0.34433
NM_000254.3(MTR):c.2043+254G>T rs45468296 0.31252
NM_000254.3(MTR):c.409+254G>A rs12567062 0.31248
NM_000254.3(MTR):c.609+1133A>C rs16834418 0.30820
NM_000254.3(MTR):c.502+229G>A rs4659724 0.30775
NM_000254.3(MTR):c.2775+157G>T rs2275565 0.29100
NM_000254.3(MTR):c.*905G>A rs1131450 0.28356
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_000254.3(MTR):c.609+999T>C rs12138911 0.22849
NM_000254.3(MTR):c.2043+220G>A rs7536446 0.21217
NM_000254.3(MTR):c.1954-263T>C rs7527957 0.21185
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000254.3(MTR):c.2474-145A>T rs58213669 0.20845
NM_000254.3(MTR):c.*1684C>T rs1804742 0.20553
NM_000254.3(MTR):c.409+113A>G rs12759827 0.18624
NM_000254.3(MTR):c.*5909C>T rs14354 0.16234
NM_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_000254.3(MTR):c.*4286T>C rs6679990 0.12174
NM_000254.3(MTR):c.*2804T>C rs10925263 0.11861
NM_000254.3(MTR):c.*5837dup rs3216014 0.09233
NM_000254.3(MTR):c.249+244A>T rs16834402 0.08722
NC_000001.11:g.236795215C>T rs28372870 0.07929
NM_000254.3(MTR):c.*153A>G rs11799670 0.07653
NM_000254.3(MTR):c.1329+175G>T rs73129141 0.07577
NM_000254.3(MTR):c.2196+177G>C rs2275567 0.07353
NM_000254.3(MTR):c.2473+117C>A rs10495387 0.07335
NM_000254.3(MTR):c.*1488T>C rs3768160 0.06512
NM_000254.3(MTR):c.*1469T>C rs3768159 0.06248
NM_000254.3(MTR):c.*4065A>G rs6677090 0.06242
NM_000254.3(MTR):c.*3140G>A rs3768161 0.05915
NM_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_000254.3(MTR):c.3405+25G>A rs2297964 0.05490
NM_000254.3(MTR):c.*3464A>G rs61400757 0.05471
NM_000254.3(MTR):c.*5535G>A rs16834541 0.05370
NM_000254.3(MTR):c.*3601G>A rs59514993 0.05358
NM_000254.3(MTR):c.*1383C>T rs73131123 0.04892
NM_000254.3(MTR):c.2473+179C>T rs3737291 0.04613
NM_000254.3(MTR):c.2304+294C>G rs12094067 0.04602
NM_000254.3(MTR):c.2305-314C>T rs12047554 0.04600
NM_000254.3(MTR):c.2474-309A>C rs12354279 0.04593
NM_000254.3(MTR):c.340-21C>T rs113277607 0.04491
NM_000254.3(MTR):c.1330-169A>G rs79359872 0.04245
NM_000254.3(MTR):c.2406-226T>C rs116111784 0.04225
NM_000254.3(MTR):c.3599-245G>A rs2275564 0.04187
NM_000254.3(MTR):c.2405+199C>A rs10802566 0.04161
NM_000254.3(MTR):c.2473+95C>T rs541441537 0.04143
NM_000254.3(MTR):c.2473+99_2473+103del rs201508556 0.04143
NM_000254.3(MTR):c.2044-21T>C rs12078297 0.04110
NM_000254.3(MTR):c.409+234C>A rs12096325 0.03653
NM_000254.3(MTR):c.3711+198A>G rs529563065 0.03540
NM_000254.3(MTR):c.2406-275T>C rs74146657 0.03216
NM_000254.3(MTR):c.3711+194A>G rs201122094 0.03052
NM_000254.3(MTR):c.-67C>T rs3738547 0.02790
NM_000254.3(MTR):c.*2879G>A rs74992803 0.02599
NM_000254.3(MTR):c.*4461T>G rs113118968 0.02599
NM_000254.3(MTR):c.3711+196A>G rs202173360 0.02392
NM_000254.3(MTR):c.1813-103A>G rs76035443 0.02160
NM_000254.3(MTR):c.*2388G>C rs78990641 0.02147
NM_000254.3(MTR):c.1515+103A>C rs73129143 0.02140
NM_000254.3(MTR):c.*5170A>G rs6680753 0.02033
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
NM_000254.3(MTR):c.*3322C>G rs76520920 0.02032
NM_000254.3(MTR):c.2776-163A>T rs16834510 0.02022
NM_000254.3(MTR):c.1515+104T>C rs80307485 0.01899
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_000254.3(MTR):c.996-195A>G rs16834433 0.01684
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_000254.3(MTR):c.*4866T>G rs45563435 0.01607
NM_000254.3(MTR):c.2776-139C>T rs41295948 0.01605
NM_000254.3(MTR):c.*4776A>C rs79548228 0.01370
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_000254.3(MTR):c.1516-201G>A rs140704204 0.01222
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_000254.3(MTR):c.*3683_*3684insTTAA rs149280661 0.01046
NM_000254.3(MTR):c.1515+102C>T rs149779530 0.00933
NM_000254.3(MTR):c.1696-143T>C rs138667281 0.00928
NM_000254.3(MTR):c.2474-19T>A rs11809449 0.00849
NM_000254.3(MTR):c.765-82A>G rs75949532 0.00682
NM_000254.3(MTR):c.*3169A>T rs75398835 0.00680
NM_000254.3(MTR):c.1516-83A>C rs560132465 0.00679
NM_000254.3(MTR):c.*3493A>G rs41304165 0.00626
NM_000254.3(MTR):c.3599-11G>A rs76731959 0.00621
NM_000254.3(MTR):c.*2887C>G rs141686413 0.00586
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000254.3(MTR):c.866-94T>C rs187490754 0.00506
NM_000254.3(MTR):c.2775+122A>G rs191779454 0.00494
NM_000254.3(MTR):c.*4097C>T rs11803836 0.00493
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_000254.3(MTR):c.2474-145_2474-144insT rs1189571643 0.00479
NM_000254.3(MTR):c.1075+130G>A rs114548075 0.00466
NM_000254.3(MTR):c.*943T>C rs536644478 0.00450
NM_000254.3(MTR):c.*860A>G rs539366380 0.00448
NM_000254.3(MTR):c.*4648G>A rs142399284 0.00445
NM_000254.3(MTR):c.*3910G>A rs548764271 0.00444
NM_000254.3(MTR):c.*1350A>G rs114316012 0.00443
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000254.3(MTR):c.*5000T>G rs145360296 0.00412
NM_000254.3(MTR):c.2474-17A>T rs571901048 0.00401
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_000254.3(MTR):c.*2584C>T rs112752174 0.00344
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_000254.3(MTR):c.*465T>A rs114724980 0.00317
NM_000254.3(MTR):c.*1744A>G rs114324996 0.00308
NM_000254.3(MTR):c.2406-106C>T rs114229303 0.00284
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_000254.3(MTR):c.*286C>T rs78201060 0.00268
NM_000254.3(MTR):c.1485G>A (p.Met495Ile) rs2229275 0.00265
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_000254.3(MTR):c.2473+8G>T rs144061765 0.00260
NM_000254.3(MTR):c.*4823G>A rs74322958 0.00242
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_000254.3(MTR):c.*1912G>T rs187377255 0.00222
NM_000254.3(MTR):c.*3823C>T rs189704931 0.00217
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr) rs146071220 0.00203
NM_000254.3(MTR):c.2474-18_2474-17del rs1491459998 0.00202
NM_000254.3(MTR):c.*287G>A rs149786323 0.00181
NM_000254.3(MTR):c.*4443C>T rs189875201 0.00171
NM_000254.3(MTR):c.685G>A (p.Val229Ile) rs61736441 0.00164
NM_000254.3(MTR):c.2474-16A>T rs539082928 0.00162
NM_000254.3(MTR):c.*773T>G rs74936029 0.00158
NM_000254.3(MTR):c.764+16T>C rs138222686 0.00158
NM_000254.3(MTR):c.-6G>C rs183719210 0.00123
NM_000254.3(MTR):c.*3788A>C rs184684509 0.00108
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_000254.3(MTR):c.*5352C>G rs886046253 0.00105
NM_000254.3(MTR):c.*760G>T rs886046223 0.00105
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) rs76418646 0.00075
NM_000254.3(MTR):c.*2538A>G rs148021206 0.00073
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000254.3(MTR):c.*755T>G rs746367734 0.00070
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_000254.3(MTR):c.*1585C>T rs185371406 0.00057
NM_000254.3(MTR):c.*3988G>A rs886046245 0.00053
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_000254.3(MTR):c.1959A>C (p.Gln653His) rs562769000 0.00042
NM_000254.3(MTR):c.*4114A>C rs748733372 0.00041
NM_000254.3(MTR):c.*3677T>G rs886046243 0.00038
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 0.00038
NM_000254.3(MTR):c.*1134G>A rs545746282 0.00036
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_000254.3(MTR):c.-96C>A rs762741049 0.00035
NM_000254.3(MTR):c.1953+6G>C rs147410975 0.00034
NM_000254.3(MTR):c.*1147T>G rs533161726 0.00032
NM_000254.3(MTR):c.*1133C>T rs543533866 0.00029
NM_000254.3(MTR):c.*4347A>T rs767109806 0.00029
NM_000254.3(MTR):c.*2726A>G rs777641850 0.00026
NM_000254.3(MTR):c.*839T>C rs565841598 0.00026
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val) rs201901663 0.00026
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) rs142774813 0.00025
NM_000254.3(MTR):c.*318T>C rs756753913 0.00024
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_000254.3(MTR):c.1215G>A (p.Gln405=) rs376048659 0.00021
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) rs148897041 0.00020
NM_000254.3(MTR):c.639T>C (p.Phe213=) rs568734591 0.00020
NM_000254.3(MTR):c.*2994A>C rs886046240 0.00019
NM_000254.3(MTR):c.1075+7C>T rs202157685 0.00019
NM_000254.3(MTR):c.*212C>T rs113634132 0.00018
NM_000254.3(MTR):c.*3446G>A rs556216016 0.00017
NM_000254.3(MTR):c.3252C>T (p.Asp1084=) rs144429636 0.00016
NM_000254.3(MTR):c.3405+18C>T rs374485228 0.00016
NM_000254.3(MTR):c.*4409G>C rs552497372 0.00015
NM_000254.3(MTR):c.*4747G>A rs151281658 0.00015
NM_000254.3(MTR):c.*1451T>G rs147859146 0.00014
NM_000254.3(MTR):c.*3166C>T rs184847683 0.00014
NM_000254.3(MTR):c.*3428G>A rs766044983 0.00014
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser) rs140956566 0.00014
NM_000254.3(MTR):c.1855G>C (p.Val619Leu) rs557853306 0.00014
NM_000254.3(MTR):c.2474-19_2474-15del rs781239294 0.00014
NM_000254.3(MTR):c.2043+10A>G rs375005444 0.00013
NM_000254.3(MTR):c.2405+13C>T rs761948163 0.00013
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro) rs111465715 0.00013
NM_000254.3(MTR):c.35-19A>G rs372886393 0.00013
NM_000254.3(MTR):c.*2095G>A rs772375260 0.00012
NM_000254.3(MTR):c.*841C>T rs574312789 0.00012
NM_000254.3(MTR):c.*813G>T rs1481124802 0.00011
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp) rs140183705 0.00011
NM_000254.3(MTR):c.2658G>A (p.Ala886=) rs142537384 0.00011
NM_000254.3(MTR):c.3204+9G>A rs769109539 0.00011
NM_000254.3(MTR):c.*1022G>T rs559273459 0.00010
NM_000254.3(MTR):c.*4293C>T rs532989425 0.00010
NM_000254.3(MTR):c.*6101A>C rs886046258 0.00010
NM_000254.3(MTR):c.*917G>A rs886046226 0.00010
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) rs760793648 0.00010
NM_000254.3(MTR):c.68A>G (p.Asn23Ser) rs760845484 0.00010
NM_000254.3(MTR):c.866-10C>G rs368755647 0.00010
NM_000254.3(MTR):c.*169C>G rs751919808 0.00009
NM_000254.3(MTR):c.*3226A>G rs886046241 0.00009
NM_000254.3(MTR):c.*5537T>C rs564374552 0.00009
NM_000254.3(MTR):c.2013C>T (p.Val671=) rs147141232 0.00009
NM_000254.3(MTR):c.2686C>T (p.Leu896=) rs147762307 0.00009
NM_000254.3(MTR):c.3007+20C>A rs149877608 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000254.3(MTR):c.355A>G (p.Met119Val) rs538707626 0.00009
NM_000254.3(MTR):c.*2276G>A rs886046238 0.00008
NM_000254.3(MTR):c.*4724G>C rs914503909 0.00008
NM_000254.3(MTR):c.*945del rs886046228 0.00008
NM_000254.3(MTR):c.2196+19G>T rs372533462 0.00008
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 0.00008
NM_000254.3(MTR):c.*899G>A rs1222133159 0.00007
NM_000254.3(MTR):c.2474-3T>A rs771491872 0.00007
NM_000254.3(MTR):c.3030C>T (p.Tyr1010=) rs777595935 0.00007
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) rs560615373 0.00007
NM_000254.3(MTR):c.558C>T (p.Gly186=) rs139019399 0.00007
NM_000254.2(MTR):c.-413C>A rs556504622 0.00006
NM_000254.3(MTR):c.*2343A>G rs749974205 0.00006
NM_000254.3(MTR):c.*485G>A rs886046222 0.00006
NM_000254.3(MTR):c.*5344G>A rs886046252 0.00006
NM_000254.3(MTR):c.1076-11C>T rs186367553 0.00006
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) rs368619885 0.00006
NM_000254.3(MTR):c.2861C>T (p.Thr954Met) rs146931200 0.00006
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys) rs769801712 0.00006
NM_000254.3(MTR):c.502+13C>T rs201647375 0.00006
NM_000254.3(MTR):c.55C>T (p.Arg19Trp) rs376681897 0.00006
NM_000254.3(MTR):c.901C>G (p.Pro301Ala) rs766371534 0.00006
NM_000254.3(MTR):c.996-20T>C rs772967310 0.00006
NM_000254.3(MTR):c.*4145C>G rs886046246 0.00005
NM_000254.3(MTR):c.*4292G>A rs886046248 0.00005
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser) rs147670189 0.00005
NM_000254.3(MTR):c.2235C>T (p.Gly745=) rs1453742538 0.00005
NM_000254.3(MTR):c.2994C>T (p.Asn998=) rs778549407 0.00005
NM_000254.3(MTR):c.3384G>A (p.Ala1128=) rs767454577 0.00005
NM_000254.3(MTR):c.759A>C (p.Pro253=) rs752365220 0.00005
NM_000254.3(MTR):c.764+6T>C rs377357761 0.00005
NM_000254.3(MTR):c.*3320G>A rs886046242 0.00004
NM_000254.3(MTR):c.*6081C>T rs981426571 0.00004
NM_000254.3(MTR):c.1086C>G (p.Pro362=) rs779393795 0.00004
NM_000254.3(MTR):c.1128G>A (p.Glu376=) rs759636736 0.00004
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_000254.3(MTR):c.1722T>C (p.Ser574=) rs142857114 0.00004
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala) rs144374509 0.00004
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg) rs750824195 0.00004
NM_000254.3(MTR):c.2326G>A (p.Val776Met) rs542575330 0.00004
NM_000254.3(MTR):c.2328G>T (p.Val776=) rs980038551 0.00004
NM_000254.3(MTR):c.2474-20T>A rs377347275 0.00004
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000254.3(MTR):c.2703A>G (p.Leu901=) rs780615625 0.00004
NM_000254.3(MTR):c.2718T>C (p.Phe906=) rs371962565 0.00004
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp) rs201015844 0.00004
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) rs556429682 0.00004
NM_000254.3(MTR):c.356T>C (p.Met119Thr) rs151161326 0.00004
NM_000254.3(MTR):c.632A>G (p.Asn211Ser) rs546918671 0.00004
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) rs780526997 0.00004
NM_000254.3(MTR):c.996-5C>T rs914525473 0.00004
NM_000254.3(MTR):c.*1732T>C rs886046233 0.00003
NM_000254.3(MTR):c.*5255T>C rs886046251 0.00003
NM_000254.3(MTR):c.*820A>G rs886046225 0.00003
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00003
NM_000254.3(MTR):c.1275A>G (p.Pro425=) rs202147344 0.00003
NM_000254.3(MTR):c.1291T>G (p.Phe431Val) rs772174532 0.00003
NM_000254.3(MTR):c.1943G>A (p.Arg648His) rs751565093 0.00003
NM_000254.3(MTR):c.2043+18G>C rs763911562 0.00003
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile) rs201755946 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000254.3(MTR):c.2473+14A>G rs193210789 0.00003
NM_000254.3(MTR):c.2474-19_2474-18insA rs777429098 0.00003
NM_000254.3(MTR):c.2638G>A (p.Val880Ile) rs1354755505 0.00003
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro) rs146569329 0.00003
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter) rs536238004 0.00003
NM_000254.3(MTR):c.3135C>T (p.His1045=) rs775738419 0.00003
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser) rs780045701 0.00003
NM_000254.3(MTR):c.3636T>C (p.Ala1212=) rs767100856 0.00003
NM_000254.3(MTR):c.899C>T (p.Thr300Met) rs201871910 0.00003
NM_000254.3(MTR):c.*201T>C rs1028919619 0.00002
NM_000254.3(MTR):c.*3298G>A rs769316399 0.00002
NM_000254.3(MTR):c.*3808A>G rs886046244 0.00002
NM_000254.3(MTR):c.*4148A>G rs886046247 0.00002
NM_000254.3(MTR):c.*5297T>C rs150365053 0.00002
NM_000254.3(MTR):c.*765T>G rs886046224 0.00002
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser) rs1286773616 0.00002
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys) rs138876566 0.00002
NM_000254.3(MTR):c.1395G>A (p.Gly465=) rs372015549 0.00002
NM_000254.3(MTR):c.1434G>A (p.Glu478=) rs747176647 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu) rs1479249107 0.00002
NM_000254.3(MTR):c.179C>G (p.Ala60Gly) rs775827591 0.00002
NM_000254.3(MTR):c.1953+7A>G rs777871271 0.00002
NM_000254.3(MTR):c.2109A>G (p.Arg703=) rs565935347 0.00002
NM_000254.3(MTR):c.259C>T (p.Leu87=) rs751808381 0.00002
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_000254.3(MTR):c.2775+17G>T rs763995449 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000254.3(MTR):c.2852-3T>C rs986257997 0.00002
NM_000254.3(MTR):c.2910G>A (p.Val970=) rs769690083 0.00002
NM_000254.3(MTR):c.339+19C>T rs199843808 0.00002
NM_000254.3(MTR):c.3598+15G>A rs754129736 0.00002
NM_000254.3(MTR):c.388G>A (p.Glu130Lys) rs755894287 0.00002
NM_000254.3(MTR):c.486G>A (p.Pro162=) rs747494979 0.00002
NM_000254.3(MTR):c.711C>T (p.Ser237=) rs775774568 0.00002
NM_000254.3(MTR):c.821T>C (p.Ile274Thr) rs368380397 0.00002
NM_000254.3(MTR):c.842A>G (p.Tyr281Cys) rs750383628 0.00002
NM_000254.3(MTR):c.*1004C>T rs1048116607 0.00001
NM_000254.3(MTR):c.*1401A>T rs1235382983 0.00001
NM_000254.3(MTR):c.*2114A>G rs374226121 0.00001
NM_000254.3(MTR):c.*2526G>C rs931137085 0.00001
NM_000254.3(MTR):c.*314T>C rs1321445851 0.00001
NM_000254.3(MTR):c.*3389A>G rs1221746071 0.00001
NM_000254.3(MTR):c.*3554A>T rs551392979 0.00001
NM_000254.3(MTR):c.*356G>A rs898878154 0.00001
NM_000254.3(MTR):c.*4558A>C rs1166236454 0.00001
NM_000254.3(MTR):c.*56T>A rs946729660 0.00001
NM_000254.3(MTR):c.*572C>T rs190694092 0.00001
NM_000254.3(MTR):c.*5884A>G rs753149267 0.00001
NM_000254.3(MTR):c.*5892A>G rs1182780627 0.00001
NM_000254.3(MTR):c.1071G>A (p.Leu357=) rs771474135 0.00001
NM_000254.3(MTR):c.1074T>C (p.Ser358=) rs1430063160 0.00001
NM_000254.3(MTR):c.1076-16T>C rs1363188046 0.00001
NM_000254.3(MTR):c.1089C>A (p.Phe363Leu) rs145217819 0.00001
NM_000254.3(MTR):c.108G>A (p.Gly36=) rs1057523951 0.00001
NM_000254.3(MTR):c.127C>T (p.Arg43Trp) rs757720946 0.00001
NM_000254.3(MTR):c.1311C>T (p.Ser437=) rs777192214 0.00001
NM_000254.3(MTR):c.1329+15A>G rs752303010 0.00001
NM_000254.3(MTR):c.1425G>A (p.Lys475=) rs1464958347 0.00001
NM_000254.3(MTR):c.1483A>G (p.Met495Val) rs775291294 0.00001
NM_000254.3(MTR):c.1566G>C (p.Leu522=) rs779536088 0.00001
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala) rs1663831931 0.00001
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp) rs151031178 0.00001
NM_000254.3(MTR):c.1657T>C (p.Tyr553His) rs767156705 0.00001
NM_000254.3(MTR):c.1695+15G>A rs750838511 0.00001
NM_000254.3(MTR):c.1743C>T (p.Ser581=) rs758784869 0.00001
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_000254.3(MTR):c.1771C>T (p.Arg591Ter) rs777459947 0.00001
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000254.3(MTR):c.181A>C (p.Arg61=) rs886046217 0.00001
NM_000254.3(MTR):c.1942C>T (p.Arg648Cys) rs886046220 0.00001
NM_000254.3(MTR):c.1954-6A>G rs1553321372 0.00001
NM_000254.3(MTR):c.1_2del (p.Met1fs) rs1367402633 0.00001
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys) rs150058137 0.00001
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000254.3(MTR):c.2101del (p.Tyr701fs) rs762727293 0.00001
NM_000254.3(MTR):c.2294T>C (p.Val765Ala) rs931972359 0.00001
NM_000254.3(MTR):c.2304+4A>G rs778478523 0.00001
NM_000254.3(MTR):c.2329C>G (p.Leu777Val) rs758778075 0.00001
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr) rs147387989 0.00001
NM_000254.3(MTR):c.2422G>A (p.Val808Ile) rs745749921 0.00001
NM_000254.3(MTR):c.2446C>T (p.Leu816=) rs1458770538 0.00001
NM_000254.3(MTR):c.2454T>C (p.Ala818=) rs769066955 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000254.3(MTR):c.2594+3A>G rs757969059 0.00001
NM_000254.3(MTR):c.2656G>A (p.Ala886Thr) rs1349129209 0.00001
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly) rs149165917 0.00001
NM_000254.3(MTR):c.2763T>C (p.Tyr921=) rs989945025 0.00001
NM_000254.3(MTR):c.2775+19T>C rs1416410897 0.00001
NM_000254.3(MTR):c.2776-16C>T rs770223976 0.00001
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys) rs1416094227 0.00001
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys) rs773190246 0.00001
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu) rs772400119 0.00001
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg) rs755595867 0.00001
NM_000254.3(MTR):c.3031G>A (p.Asp1011Asn) rs753262198 0.00001
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr) rs1474412109 0.00001
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr) rs756706737 0.00001
NM_000254.3(MTR):c.3205-196A>G rs544410324 0.00001
NM_000254.3(MTR):c.325G>A (p.Gly109Ser) rs746836137 0.00001
NM_000254.3(MTR):c.3281G>A (p.Arg1094His) rs764803333 0.00001
NM_000254.3(MTR):c.3315T>C (p.Phe1105=) rs1221565565 0.00001
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val) rs759436870 0.00001
NM_000254.3(MTR):c.340-166A>G rs1661117141 0.00001
NM_000254.3(MTR):c.340-3T>C rs772591750 0.00001
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly) rs781725496 0.00001
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter) rs201718371 0.00001
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser) rs1188027807 0.00001
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly) rs369154176 0.00001
NM_000254.3(MTR):c.347G>A (p.Arg116Gln) rs1414249194 0.00001
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys) rs761657622 0.00001
NM_000254.3(MTR):c.3516C>T (p.Arg1172=) rs750050502 0.00001
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg) rs779312137 0.00001
NM_000254.3(MTR):c.385G>C (p.Ala129Pro) rs1190777785 0.00001
NM_000254.3(MTR):c.443C>T (p.Pro148Leu) rs757429726 0.00001
NM_000254.3(MTR):c.444G>A (p.Pro148=) rs778868012 0.00001
NM_000254.3(MTR):c.461C>T (p.Ser154Phe) rs1311934439 0.00001
NM_000254.3(MTR):c.586A>G (p.Ile196Val) rs776426879 0.00001
NM_000254.3(MTR):c.609+1092G>A rs1057521391 0.00001
NM_000254.3(MTR):c.669+11A>C rs773271317 0.00001
NM_000254.3(MTR):c.712G>A (p.Gly238Arg) rs934470002 0.00001
NM_000254.3(MTR):c.755A>G (p.Glu252Gly) rs758776466 0.00001
NM_000254.3(MTR):c.928-11C>A rs747767873 0.00001
MTR, IVS6AS, G-A, LYS203
NC_000001.10:g.(?_236959004)_(237060944_?)dup
NC_000001.10:g.(?_237060286)_(237060944_?)dup
NC_000001.11:g.236795083A>C rs28372868
NC_000001.11:g.236795178T>A rs28372869
NC_000001.11:g.236795232G>T rs28372871
NM_000254.3(MTR):c.*102G>A rs1293664328
NM_000254.3(MTR):c.*1030A>G rs886046229
NM_000254.3(MTR):c.*1087G>C rs1666796580
NM_000254.3(MTR):c.*1098T>C rs866559597
NM_000254.3(MTR):c.*1105G>C rs886046230
NM_000254.3(MTR):c.*112A>C rs2853522
NM_000254.3(MTR):c.*1150G>A rs1666799768
NM_000254.3(MTR):c.*1252C>T rs886046231
NM_000254.3(MTR):c.*1657C>T rs886046232
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.*1709C>T rs117242127
NM_000254.3(MTR):c.*1785A>G rs886046234
NM_000254.3(MTR):c.*1786C>G rs886046235
NM_000254.3(MTR):c.*1809C>A rs1666828971
NM_000254.3(MTR):c.*1864T>C rs886046236
NM_000254.3(MTR):c.*208C>G rs755483276
NM_000254.3(MTR):c.*2197C>G rs886046237
NM_000254.3(MTR):c.*2364C>T rs886046239
NM_000254.3(MTR):c.*2773_*2774dup rs34686098
NM_000254.3(MTR):c.*2774dup rs34686098
NM_000254.3(MTR):c.*2775_*2776del rs1553332314
NM_000254.3(MTR):c.*3174C>T rs41305961
NM_000254.3(MTR):c.*3230G>C rs747348673
NM_000254.3(MTR):c.*3512G>A rs41305971
NM_000254.3(MTR):c.*3660G>C rs1666907051
NM_000254.3(MTR):c.*3819A>G rs1666913839
NM_000254.3(MTR):c.*3824del rs398089986
NM_000254.3(MTR):c.*4039C>T rs1666922602
NM_000254.3(MTR):c.*4423C>G rs376059299
NM_000254.3(MTR):c.*4667C>A rs574334835
NM_000254.3(MTR):c.*467A>G rs1666763347
NM_000254.3(MTR):c.*5112A>G rs886046249
NM_000254.3(MTR):c.*5153T>A rs1021369210
NM_000254.3(MTR):c.*5194AAAAC[3] rs141529013
NM_000254.3(MTR):c.*5194AAAAC[5] rs141529013
NM_000254.3(MTR):c.*5204A>G rs1666980207
NM_000254.3(MTR):c.*5248A>G rs886046250
NM_000254.3(MTR):c.*5294G>C rs16834539
NM_000254.3(MTR):c.*5374C>G rs1478217281
NM_000254.3(MTR):c.*5497dup rs546911656
NM_000254.3(MTR):c.*5639A>G rs886046254
NM_000254.3(MTR):c.*5756C>A rs16834543
NM_000254.3(MTR):c.*5756C>G rs16834543
NM_000254.3(MTR):c.*5882G>A rs2282368
NM_000254.3(MTR):c.*5956A>T rs886046256
NM_000254.3(MTR):c.*5977A>T rs886046257
NM_000254.3(MTR):c.*6243A>G rs886046259
NM_000254.3(MTR):c.*773del rs796166778
NM_000254.3(MTR):c.*826G>C rs967834041
NM_000254.3(MTR):c.*921A>C rs886046227
NM_000254.3(MTR):c.-16GAG[1] rs1064794430
NM_000254.3(MTR):c.1011T>A (p.Ala337=)
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys) rs1322031909
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
NM_000254.3(MTR):c.1029T>C (p.Pro343=)
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
NM_000254.3(MTR):c.1044C>G (p.Ala348=)
NM_000254.3(MTR):c.1075+12A>C
NM_000254.3(MTR):c.1075+14A>T
NM_000254.3(MTR):c.1075+6T>G rs567527137
NM_000254.3(MTR):c.1076-11C>G rs186367553
NM_000254.3(MTR):c.1076-19A>T
NM_000254.3(MTR):c.1076-20A>T
NM_000254.3(MTR):c.1076-9C>T
NM_000254.3(MTR):c.1077T>G (p.Gly359=) rs745469748
NM_000254.3(MTR):c.1092G>A (p.Arg364=)
NM_000254.3(MTR):c.1095T>C (p.Ile365=)
NM_000254.3(MTR):c.1101G>A (p.Pro367=) rs763018049
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) rs1662641467
NM_000254.3(MTR):c.1164A>G (p.Lys388=)
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
NM_000254.3(MTR):c.1176A>C (p.Ala392=)
NM_000254.3(MTR):c.1176A>G (p.Ala392=)
NM_000254.3(MTR):c.1188+19C>T
NM_000254.3(MTR):c.1188+1G>A rs2103130072
NM_000254.3(MTR):c.1188+7A>G
NM_000254.3(MTR):c.1189-11T>C rs2103148397
NM_000254.3(MTR):c.1189-14C>G
NM_000254.3(MTR):c.1189-18C>T
NM_000254.3(MTR):c.1189-20C>T
NM_000254.3(MTR):c.1189-7C>T
NM_000254.3(MTR):c.118A>G (p.Met40Val)
NM_000254.3(MTR):c.1197G>A (p.Leu399=)
NM_000254.3(MTR):c.1200dup (p.Val401fs)
NM_000254.3(MTR):c.1206C>T (p.Ala402=)
NM_000254.3(MTR):c.1232A>C (p.Gln411Pro) rs886046219
NM_000254.3(MTR):c.1239G>A (p.Leu413=)
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
NM_000254.3(MTR):c.1248C>T (p.Asn416=)
NM_000254.3(MTR):c.1251G>T (p.Met417Ile) rs2103148829
NM_000254.3(MTR):c.1256A>G (p.Asp419Gly)
NM_000254.3(MTR):c.1264C>T (p.Leu422=)
NM_000254.3(MTR):c.1266A>G (p.Leu422=) rs984927112
NM_000254.3(MTR):c.1269T>C (p.Asp423=)
NM_000254.3(MTR):c.126G>A (p.Gln42=)
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp) rs2103149012
NM_000254.3(MTR):c.128G>A (p.Arg43Gln) rs143088011
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) rs1660806761
NM_000254.3(MTR):c.129G>T (p.Arg43=)
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
NM_000254.3(MTR):c.1308T>G (p.Ala436=)
NM_000254.3(MTR):c.1311C>A (p.Ser437=)
NM_000254.3(MTR):c.1323C>T (p.Ile441=)
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu) rs770004849
NM_000254.3(MTR):c.1326A>G (p.Ala442=)
NM_000254.3(MTR):c.1329+14T>C
NM_000254.3(MTR):c.1329+15_1329+16del
NM_000254.3(MTR):c.1329+16T>C
NM_000254.3(MTR):c.1329+16del
NM_000254.3(MTR):c.1329+19T>G
NM_000254.3(MTR):c.1329+9A>G
NM_000254.3(MTR):c.1330-10C>T
NM_000254.3(MTR):c.1330-12T>C
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1330-311C>T rs6668438
NM_000254.3(MTR):c.1330-5C>A
NM_000254.3(MTR):c.1335T>G (p.Pro445=)
NM_000254.3(MTR):c.1344C>T (p.Ile448=)
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.1350C>G (p.Ser450=)
NM_000254.3(MTR):c.135G>A (p.Lys45=) rs747724978
NM_000254.3(MTR):c.1362T>G (p.Ala454=) rs376684560
NM_000254.3(MTR):c.136C>T (p.Leu46=)
NM_000254.3(MTR):c.1377G>T (p.Gly459=)
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
NM_000254.3(MTR):c.1398G>A (p.Lys466=)
NM_000254.3(MTR):c.1404T>C (p.Ile468=)
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser) rs2103166386
NM_000254.3(MTR):c.1413C>T (p.Ser471=)
NM_000254.3(MTR):c.141C>T (p.Asn47=)
NM_000254.3(MTR):c.1420C>T (p.Leu474=)
NM_000254.3(MTR):c.1470G>A (p.Lys490=)
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
NM_000254.3(MTR):c.1488G>C (p.Val496=)
NM_000254.3(MTR):c.1491C>T (p.Val497=)
NM_000254.3(MTR):c.1497T>A (p.Ala499=)
NM_000254.3(MTR):c.1497T>C (p.Ala499=)
NM_000254.3(MTR):c.1497T>G (p.Ala499=)
NM_000254.3(MTR):c.1506A>G (p.Glu502=)
NM_000254.3(MTR):c.1512del (p.Gln505fs)
NM_000254.3(MTR):c.1515+14T>G
NM_000254.3(MTR):c.1515+16T>C
NM_000254.3(MTR):c.1515+17G>A
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1516-11C>G
NM_000254.3(MTR):c.1516-11C>T
NM_000254.3(MTR):c.1516-15dup
NM_000254.3(MTR):c.1516-5C>T
NM_000254.3(MTR):c.1516-6C>G
NM_000254.3(MTR):c.1516-6C>T
NM_000254.3(MTR):c.1516-7T>G
NM_000254.3(MTR):c.1516-91T>A rs200399202
NM_000254.3(MTR):c.1516-93T>C rs6658027
NM_000254.3(MTR):c.1518A>C (p.Ala506=)
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln) rs1572261571
NM_000254.3(MTR):c.1527A>T (p.Thr509=)
NM_000254.3(MTR):c.1530C>T (p.Asp510=)
NM_000254.3(MTR):c.1544T>G (p.Val515Gly) rs1663828645
NM_000254.3(MTR):c.1545G>A (p.Val515=)
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
NM_000254.3(MTR):c.1566G>T (p.Leu522=)
NM_000254.3(MTR):c.1575A>G (p.Lys525=) rs199700767
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.3(MTR):c.1579C>T (p.Leu527=)
NM_000254.3(MTR):c.1581G>C (p.Leu527=)
NM_000254.3(MTR):c.1596T>C (p.Asn532=)
NM_000254.3(MTR):c.1614T>C (p.Pro538=)
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
NM_000254.3(MTR):c.1620C>T (p.Ile540=)
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
NM_000254.3(MTR):c.163G>C (p.Glu55Gln)
NM_000254.3(MTR):c.1647A>G (p.Glu549=) rs1171736020
NM_000254.3(MTR):c.1656G>A (p.Leu552=)
NM_000254.3(MTR):c.1689C>A (p.Val563=)
NM_000254.3(MTR):c.1689C>T (p.Val563=)
NM_000254.3(MTR):c.1695+10G>A
NM_000254.3(MTR):c.1695+11G>A
NM_000254.3(MTR):c.1695+13A>G
NM_000254.3(MTR):c.1695+13A>T
NM_000254.3(MTR):c.1695+14T>C
NM_000254.3(MTR):c.1695+17T>G
NM_000254.3(MTR):c.1695+18C>T
NM_000254.3(MTR):c.1695+20C>T
NM_000254.3(MTR):c.1695+222C>A rs80243329
NM_000254.3(MTR):c.1695+6T>C
NM_000254.3(MTR):c.1695+7G>A
NM_000254.3(MTR):c.1695+7G>T rs183273480
NM_000254.3(MTR):c.1695+95_1695+97del rs35913043
NM_000254.3(MTR):c.1696-14A>G
NM_000254.3(MTR):c.1696-18T>C rs2103252601
NM_000254.3(MTR):c.1696-193C>T rs2275568
NM_000254.3(MTR):c.1696-19A>G
NM_000254.3(MTR):c.1696-264GT[11] rs3856242
NM_000254.3(MTR):c.1696-264GT[9] rs3856242
NM_000254.3(MTR):c.1696-4C>T
NM_000254.3(MTR):c.1696-5G>A
NM_000254.3(MTR):c.1696-5G>T
NM_000254.3(MTR):c.1696-6T>C
NM_000254.3(MTR):c.1701A>G (p.Thr567=)
NM_000254.3(MTR):c.1707T>A (p.Pro569=)
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
NM_000254.3(MTR):c.1714A>C (p.Arg572=)
NM_000254.3(MTR):c.1737C>T (p.Asn579=)
NM_000254.3(MTR):c.174T>C (p.Asp58=) rs2103013970
NM_000254.3(MTR):c.1755A>T (p.Arg585=)
NM_000254.3(MTR):c.1758A>G (p.Gly586=)
NM_000254.3(MTR):c.1760T>C (p.Met587Thr)
NM_000254.3(MTR):c.177T>C (p.His59=)
NM_000254.3(MTR):c.1803T>C (p.His601=)
NM_000254.3(MTR):c.1812+10A>G
NM_000254.3(MTR):c.1812+12G>T
NM_000254.3(MTR):c.1812+15C>T
NM_000254.3(MTR):c.1812+16T>A
NM_000254.3(MTR):c.1812+17C>T
NM_000254.3(MTR):c.1812_1812+1insATAC
NM_000254.3(MTR):c.1813-11A>G rs1289723374
NM_000254.3(MTR):c.1830G>T (p.Gly610=)
NM_000254.3(MTR):c.1847A>G (p.Asn616Ser)
NM_000254.3(MTR):c.186G>A (p.Pro62=)
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
NM_000254.3(MTR):c.1878A>G (p.Glu626=)
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
NM_000254.3(MTR):c.1929T>G (p.Thr643=)
NM_000254.3(MTR):c.192A>G (p.Lys64=)
NM_000254.3(MTR):c.1941dup (p.Arg648fs)
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
NM_000254.3(MTR):c.1953+11A>C
NM_000254.3(MTR):c.1953+12A>G
NM_000254.3(MTR):c.1953+13G>A
NM_000254.3(MTR):c.1953+15G>T
NM_000254.3(MTR):c.1953+18C>T
NM_000254.3(MTR):c.1953+19T>A
NM_000254.3(MTR):c.1953+20A>G
NM_000254.3(MTR):c.1953+3A>G rs781246271
NM_000254.3(MTR):c.1953+9A>C
NM_000254.3(MTR):c.1954-11T>A
NM_000254.3(MTR):c.1954-12A>C rs192346180
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.1954-19G>C rs2103290480
NM_000254.3(MTR):c.1954-4T>C
NM_000254.3(MTR):c.1956T>C (p.Thr652=)
NM_000254.3(MTR):c.1965A>C (p.Thr655=)
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg) rs1664416870
NM_000254.3(MTR):c.1986G>T (p.Gln662His) rs1664418343
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000254.3(MTR):c.2003del (p.Asn668fs) rs1064796330
NM_000254.3(MTR):c.2013C>A (p.Val671=)
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser) rs150058137
NM_000254.3(MTR):c.2021G>A (p.Arg674His) rs774231870
NM_000254.3(MTR):c.2022C>T (p.Arg674=) rs2103291244
NM_000254.3(MTR):c.2025T>C (p.Leu675=)
NM_000254.3(MTR):c.2037T>C (p.Leu679=)
NM_000254.3(MTR):c.2043+15C>T
NM_000254.3(MTR):c.2043+8A>G
NM_000254.3(MTR):c.2043+9C>T rs2103291466
NM_000254.3(MTR):c.2044-11_2044-9del rs542174711
NM_000254.3(MTR):c.2044-11del rs371884645
NM_000254.3(MTR):c.2044-11dup
NM_000254.3(MTR):c.2044-12T>C
NM_000254.3(MTR):c.2044-17T>C
NM_000254.3(MTR):c.2044-19T>C
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2044-1G>T
NM_000254.3(MTR):c.2044-20T>C
NM_000254.3(MTR):c.2044-2A>T rs753703111
NM_000254.3(MTR):c.2044-4T>C
NM_000254.3(MTR):c.2044-7T>G
NM_000254.3(MTR):c.2044-8T>C rs1664517879
NM_000254.3(MTR):c.2044-9C>G
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
NM_000254.3(MTR):c.2067G>A (p.Glu689=)
NM_000254.3(MTR):c.2076G>A (p.Glu692=)
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
NM_000254.3(MTR):c.2106C>T (p.Pro702=)
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
NM_000254.3(MTR):c.2109A>C (p.Arg703=)
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) rs797044444
NM_000254.3(MTR):c.2118T>C (p.Asn706=) rs1664526437
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
NM_000254.3(MTR):c.2133C>T (p.Pro711=)
NM_000254.3(MTR):c.2135T>C (p.Leu712Pro) rs2103301603
NM_000254.3(MTR):c.2139del (p.Met713fs)
NM_000254.3(MTR):c.213T>C (p.Ser71=)
NM_000254.3(MTR):c.2163T>C (p.Asp721=)
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
NM_000254.3(MTR):c.2190A>G (p.Leu730=)
NM_000254.3(MTR):c.2193T>C (p.Pro731=)
NM_000254.3(MTR):c.2196+12A>C rs1664530187
NM_000254.3(MTR):c.2196+13T>C
NM_000254.3(MTR):c.2196+15G>A
NM_000254.3(MTR):c.2196+17G>A
NM_000254.3(MTR):c.2196+17G>C
NM_000254.3(MTR):c.2196+19G>A rs372533462
NM_000254.3(MTR):c.2196+5G>A rs2103301889
NM_000254.3(MTR):c.2197-18C>A
NM_000254.3(MTR):c.2197-18C>G
NM_000254.3(MTR):c.2197-5C>G
NM_000254.3(MTR):c.2197-6T>C rs1328542941
NM_000254.3(MTR):c.2197-6dup
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
NM_000254.3(MTR):c.2205G>A (p.Lys735=)
NM_000254.3(MTR):c.2211C>T (p.Ala737=)
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
NM_000254.3(MTR):c.2218A>G (p.Met740Val)
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
NM_000254.3(MTR):c.2222A>G (p.Lys741Arg)
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
NM_000254.3(MTR):c.2241T>A (p.Leu747=)
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
NM_000254.3(MTR):c.2244C>A (p.Ile748=)
NM_000254.3(MTR):c.2247T>G (p.Pro749=)
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000254.3(MTR):c.225T>G (p.Pro75=)
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
NM_000254.3(MTR):c.2268A>G (p.Glu756=)
NM_000254.3(MTR):c.2274C>A (p.Thr758=)
NM_000254.3(MTR):c.2282T>A (p.Leu761His) rs1664590593
NM_000254.3(MTR):c.2286C>T (p.Asn762=)
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
NM_000254.3(MTR):c.2304+16C>A
NM_000254.3(MTR):c.2304+16C>T
NM_000254.3(MTR):c.2304+3A>C rs1572283994
NM_000254.3(MTR):c.2305-11T>C
NM_000254.3(MTR):c.2305-11T>G
NM_000254.3(MTR):c.2305-14G>T
NM_000254.3(MTR):c.2305-1G>T rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2305-4C>T
NM_000254.3(MTR):c.2305-5T>C
NM_000254.3(MTR):c.2305-9C>T
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala) rs968363996
NM_000254.3(MTR):c.2308C>T (p.Pro770Ser)
NM_000254.3(MTR):c.2314C>G (p.Gln772Glu)
NM_000254.3(MTR):c.2325C>A (p.Ile775=)
NM_000254.3(MTR):c.2325C>T (p.Ile775=)
NM_000254.3(MTR):c.2333C>T (p.Ala778Val) rs2103313543
NM_000254.3(MTR):c.2346C>T (p.Gly782=) rs777213189
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
NM_000254.3(MTR):c.2353C>A (p.His785Asn) rs2103313766
NM_000254.3(MTR):c.2355C>T (p.His785=)
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
NM_000254.3(MTR):c.237C>T (p.Tyr79=)
NM_000254.3(MTR):c.2385C>A (p.Val795=)
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
NM_000254.3(MTR):c.2403C>T (p.Phe801=)
NM_000254.3(MTR):c.2405+18del
NM_000254.3(MTR):c.2405+1G>A rs1664669480
NM_000254.3(MTR):c.2405+201G>A rs10802567
NM_000254.3(MTR):c.2405+20C>G
NM_000254.3(MTR):c.2405+20C>T
NM_000254.3(MTR):c.2405+8A>G rs886046221
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln) rs760932771
NM_000254.3(MTR):c.2406-10T>C
NM_000254.3(MTR):c.2406-18C>G
NM_000254.3(MTR):c.2406-18C>T
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2406-8T>G
NM_000254.3(MTR):c.2406-9G>C
NM_000254.3(MTR):c.240A>G (p.Gln80=)
NM_000254.3(MTR):c.2424C>G (p.Val808=)
NM_000254.3(MTR):c.2432dup (p.Cys812fs) rs1665274096
NM_000254.3(MTR):c.2463C>T (p.Asp821=)
NM_000254.3(MTR):c.2472A>T (p.Ala824=) rs1665277178
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
NM_000254.3(MTR):c.2473+17C>T
NM_000254.3(MTR):c.2473+20T>A
NM_000254.3(MTR):c.2473+3A>G rs1665277406
NM_000254.3(MTR):c.2473+93_2473+95del rs200001208
NM_000254.3(MTR):c.2473+9C>A
NM_000254.3(MTR):c.2474-10A>T
NM_000254.3(MTR):c.2474-15A>T
NM_000254.3(MTR):c.2474-173C>A rs2712831
NM_000254.3(MTR):c.2474-17_2474-16inv
NM_000254.3(MTR):c.2474-18T>C rs10925256
NM_000254.3(MTR):c.2474-18_2474-17insTA
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000254.3(MTR):c.2474-19_2474-17del
NM_000254.3(MTR):c.2474-19_2474-18del rs150727404
NM_000254.3(MTR):c.2474-19_2474-18insAA
NM_000254.3(MTR):c.2474-19_2474-18inv
NM_000254.3(MTR):c.2474-20_2474-18del rs150727404
NM_000254.3(MTR):c.2474-20_2474-19insA rs1665333724
NM_000254.3(MTR):c.2474-4del rs546254033
NM_000254.3(MTR):c.2474-4dup rs546254033
NM_000254.3(MTR):c.2474-5_2474-4del rs546254033
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000254.3(MTR):c.2474-9A>C
NM_000254.3(MTR):c.2474A>G (p.Asp825Gly)
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer) rs1572309822
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000254.3(MTR):c.2487G>C (p.Leu829=)
NM_000254.3(MTR):c.249+11C>T
NM_000254.3(MTR):c.249+15G>T
NM_000254.3(MTR):c.249+16del
NM_000254.3(MTR):c.249+19C>G
NM_000254.3(MTR):c.249+20C>G
NM_000254.3(MTR):c.2490A>G (p.Ser830=)
NM_000254.3(MTR):c.2493A>G (p.Gly831=)
NM_000254.3(MTR):c.250-10C>G
NM_000254.3(MTR):c.250-12C>G
NM_000254.3(MTR):c.250-15A>C
NM_000254.3(MTR):c.250-4dup
NM_000254.3(MTR):c.2508C>G (p.Ser836=)
NM_000254.3(MTR):c.2514T>C (p.Asp838=)
NM_000254.3(MTR):c.2517A>G (p.Glu839=)
NM_000254.3(MTR):c.2523T>A (p.Ile841=)
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
NM_000254.3(MTR):c.2532C>T (p.Ala844=)
NM_000254.3(MTR):c.2535G>A (p.Lys845=)
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr) rs2147881808
NM_000254.3(MTR):c.2553T>G (p.Ala851=)
NM_000254.3(MTR):c.255C>T (p.Tyr85=)
NM_000254.3(MTR):c.2562T>C (p.Ile854=)
NM_000254.3(MTR):c.2565A>G (p.Pro855=)
NM_000254.3(MTR):c.2569T>C (p.Leu857=)
NM_000254.3(MTR):c.2574T>C (p.Ile858=)
NM_000254.3(MTR):c.2593A>G (p.Lys865Glu) rs1665342241
NM_000254.3(MTR):c.2594+10A>G
NM_000254.3(MTR):c.2594+11C>T
NM_000254.3(MTR):c.2594+18G>A rs1558329619
NM_000254.3(MTR):c.2594+19C>G
NM_000254.3(MTR):c.2594+1_2594+36dup
NM_000254.3(MTR):c.2594+20_2594+28dup
NM_000254.3(MTR):c.2594+5G>A
NM_000254.3(MTR):c.2595-2A>G rs1558334603
NM_000254.3(MTR):c.2595-3del
NM_000254.3(MTR):c.2595-8C>G
NM_000254.3(MTR):c.2595-8C>T
NM_000254.3(MTR):c.2598C>T (p.Thr866=)
NM_000254.3(MTR):c.2601C>T (p.His867=)
NM_000254.3(MTR):c.2631T>C (p.Ser877=)
NM_000254.3(MTR):c.2637T>C (p.Pro879=)
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
NM_000254.3(MTR):c.2664G>A (p.Lys888=)
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg) rs1553326540
NM_000254.3(MTR):c.2669_2670del (p.Val890fs) rs794727395
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
NM_000254.3(MTR):c.2676+11G>A
NM_000254.3(MTR):c.2676+14C>G
NM_000254.3(MTR):c.2676+17A>C
NM_000254.3(MTR):c.2676+17A>G
NM_000254.3(MTR):c.2676+19A>G
NM_000254.3(MTR):c.2676+23dup
NM_000254.3(MTR):c.2676+8G>T
NM_000254.3(MTR):c.2677-10dup
NM_000254.3(MTR):c.2677-13C>T
NM_000254.3(MTR):c.2677-15A>G
NM_000254.3(MTR):c.2677-291G>C rs12093006
NM_000254.3(MTR):c.2677-5T>G
NM_000254.3(MTR):c.2682C>T (p.Ser894=)
NM_000254.3(MTR):c.270A>G (p.Ala90=)
NM_000254.3(MTR):c.271G>C (p.Asp91His)
NM_000254.3(MTR):c.2727C>A (p.Ile909=)
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
NM_000254.3(MTR):c.2733A>G (p.Glu911=)
NM_000254.3(MTR):c.2738A>T (p.Tyr913Phe) rs1553327531
NM_000254.3(MTR):c.2744A>T (p.Asp915Val) rs977928036
NM_000254.3(MTR):c.2745T>G (p.Asp915Glu)
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2760T>C (p.His920=)
NM_000254.3(MTR):c.2775+17G>A
NM_000254.3(MTR):c.2775+19T>G
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2775+4A>G
NM_000254.3(MTR):c.2775+7G>A
NM_000254.3(MTR):c.2776-11T>G
NM_000254.3(MTR):c.2776-6dup
NM_000254.3(MTR):c.2784A>G (p.Arg928=)
NM_000254.3(MTR):c.2787C>T (p.Tyr929=)
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.2794T>C (p.Leu932=)
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
NM_000254.3(MTR):c.2802A>G (p.Gln934=) rs963291512
NM_000254.3(MTR):c.2805C>T (p.Ala935=)
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
NM_000254.3(MTR):c.2829T>C (p.Asp943=)
NM_000254.3(MTR):c.2851+13A>G
NM_000254.3(MTR):c.2851+2T>G rs2147922731
NM_000254.3(MTR):c.2851+8T>G
NM_000254.3(MTR):c.2851+9G>C rs1572333338
NM_000254.3(MTR):c.2852-11C>G
NM_000254.3(MTR):c.2852-13T>C
NM_000254.3(MTR):c.2852-15A>T
NM_000254.3(MTR):c.2852-17A>G
NM_000254.3(MTR):c.2852-18C>T
NM_000254.3(MTR):c.2852-4G>T
NM_000254.3(MTR):c.2852-7C>T rs1233643439
NM_000254.3(MTR):c.2856G>A (p.Lys952=)
NM_000254.3(MTR):c.2857C>T (p.Pro953Ser)
NM_000254.3(MTR):c.2858C>G (p.Pro953Arg)
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
NM_000254.3(MTR):c.2859C>G (p.Pro953=) rs1666184303
NM_000254.3(MTR):c.2862G>A (p.Thr954=)
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
NM_000254.3(MTR):c.2868T>C (p.Ile956=)
NM_000254.3(MTR):c.2874C>A (p.Thr958=)
NM_000254.3(MTR):c.2874C>T (p.Thr958=)
NM_000254.3(MTR):c.2890T>C (p.Tyr964His) rs779579945
NM_000254.3(MTR):c.2892T>C (p.Tyr964=)
NM_000254.3(MTR):c.2898G>A (p.Leu966=)
NM_000254.3(MTR):c.2911G>A (p.Asp971Asn)
NM_000254.3(MTR):c.2913C>T (p.Asp971=)
NM_000254.3(MTR):c.2919T>A (p.Ile973=)
NM_000254.3(MTR):c.2919T>C (p.Ile973=)
NM_000254.3(MTR):c.2929C>T (p.Pro977Ser)
NM_000254.3(MTR):c.294T>C (p.Phe98=)
NM_000254.3(MTR):c.2967G>A (p.Pro989=)
NM_000254.3(MTR):c.2967G>T (p.Pro989=)
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
NM_000254.3(MTR):c.2970T>C (p.Asn990=)
NM_000254.3(MTR):c.2976C>T (p.Gly992=)
NM_000254.3(MTR):c.3003A>T (p.Thr1001=) rs1057520933
NM_000254.3(MTR):c.3007+15T>G
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3007+20C>T
NM_000254.3(MTR):c.3007+7G>A
NM_000254.3(MTR):c.3008-13G>T
NM_000254.3(MTR):c.3008-15C>A
NM_000254.3(MTR):c.3008-19_3008-14del
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-3T>C rs1286783552
NM_000254.3(MTR):c.3008-4A>G rs1224783275
NM_000254.3(MTR):c.3008-5A>G
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly) rs1666296405
NM_000254.3(MTR):c.3033T>C (p.Asp1011=)
NM_000254.3(MTR):c.3045T>C (p.Asn1015=)
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) rs1400658126
NM_000254.3(MTR):c.3057A>G (p.Thr1019=) rs1394740700
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln) rs2147939390
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
NM_000254.3(MTR):c.3093G>C (p.Val1031=)
NM_000254.3(MTR):c.3093G>T (p.Val1031=)
NM_000254.3(MTR):c.3114G>A (p.Gln1038=)
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
NM_000254.3(MTR):c.3132T>C (p.Ile1044=)
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe) rs1572341910
NM_000254.3(MTR):c.3142_3144delinsACG (p.Ala1048Thr) rs1064796193
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
NM_000254.3(MTR):c.3144A>T (p.Ala1048=) rs2229276
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly) rs1666303969
NM_000254.3(MTR):c.3168A>G (p.Ala1056=)
NM_000254.3(MTR):c.3174C>T (p.Pro1058=)
NM_000254.3(MTR):c.3175A>G (p.Ile1059Val) rs1666305319
NM_000254.3(MTR):c.3180C>T (p.Ala1060=)
NM_000254.3(MTR):c.3184T>C (p.Phe1062Leu)
NM_000254.3(MTR):c.3192G>A (p.Gly1064=)
NM_000254.3(MTR):c.3198G>A (p.Arg1066=)
NM_000254.3(MTR):c.3204+11T>C
NM_000254.3(MTR):c.3204+14A>G
NM_000254.3(MTR):c.3204+20A>G
NM_000254.3(MTR):c.3205-12C>T
NM_000254.3(MTR):c.3205-13C>T
NM_000254.3(MTR):c.3205-15C>T
NM_000254.3(MTR):c.3205-16A>G
NM_000254.3(MTR):c.3205-18A>G
NM_000254.3(MTR):c.3205-7T>C
NM_000254.3(MTR):c.3205-8G>C
NM_000254.3(MTR):c.3205-9G>A rs1666501324
NM_000254.3(MTR):c.3205-9G>T
NM_000254.3(MTR):c.3213G>A (p.Lys1071=)
NM_000254.3(MTR):c.3225C>T (p.Ser1075=)
NM_000254.3(MTR):c.3228G>A (p.Thr1076=)
NM_000254.3(MTR):c.3234A>G (p.Pro1078=)
NM_000254.3(MTR):c.3243C>T (p.Cys1081=)
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr) rs1666504883
NM_000254.3(MTR):c.3258C>T (p.Ile1086=)
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
NM_000254.3(MTR):c.3273T>G (p.Ser1091=)
NM_000254.3(MTR):c.3276C>T (p.Gly1092=)
NM_000254.3(MTR):c.327C>T (p.Gly109=)
NM_000254.3(MTR):c.3283G>A (p.Asp1095Asn)
NM_000254.3(MTR):c.3292G>T (p.Gly1098Cys)
NM_000254.3(MTR):c.3295C>T (p.Leu1099=)
NM_000254.3(MTR):c.3303C>T (p.Ala1101=)
NM_000254.3(MTR):c.3306T>A (p.Val1102=)
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu) rs1221565565
NM_000254.3(MTR):c.3318G>A (p.Gly1106=)
NM_000254.3(MTR):c.3321A>C (p.Val1107=)
NM_000254.3(MTR):c.3321A>G (p.Val1107=)
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys) rs1666509852
NM_000254.3(MTR):c.3327G>A (p.Glu1109=)
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
NM_000254.3(MTR):c.3345G>A (p.Glu1115=)
NM_000254.3(MTR):c.3356dup (p.Asp1119fs)
NM_000254.3(MTR):c.3357C>T (p.Asp1119=)
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.3(MTR):c.3384G>T (p.Ala1128=)
NM_000254.3(MTR):c.3394C>A (p.Arg1132=)
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln) rs1305962485
NM_000254.3(MTR):c.340-166A>C
NM_000254.3(MTR):c.340-20G>A
NM_000254.3(MTR):c.3405+116del rs377058421
NM_000254.3(MTR):c.3405+17G>A
NM_000254.3(MTR):c.3405+19G>A
NM_000254.3(MTR):c.3405+21del
NM_000254.3(MTR):c.3405+6_3405+33dup
NM_000254.3(MTR):c.3406-12T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.3406-4C>T
NM_000254.3(MTR):c.3414A>G (p.Ala1138=)
NM_000254.3(MTR):c.3416A>G (p.Glu1139Gly)
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
NM_000254.3(MTR):c.3443A>T (p.Glu1148Val)
NM_000254.3(MTR):c.3444A>G (p.Glu1148=)
NM_000254.3(MTR):c.3453C>G (p.Ala1151=)
NM_000254.3(MTR):c.3465T>C (p.Ser1155=)
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
NM_000254.3(MTR):c.3480C>T (p.Val1160=)
NM_000254.3(MTR):c.349A>C (p.Met117Leu) rs143180799
NM_000254.3(MTR):c.349A>G (p.Met117Val) rs143180799
NM_000254.3(MTR):c.35-12C>T
NM_000254.3(MTR):c.35-14del
NM_000254.3(MTR):c.35-20A>G
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys) rs756440911
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro) rs778432496
NM_000254.3(MTR):c.3519G>A (p.Pro1173=)
NM_000254.3(MTR):c.3534C>T (p.Pro1178=)
NM_000254.3(MTR):c.3543C>T (p.Pro1181=)
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
NM_000254.3(MTR):c.3552C>G (p.Thr1184=) rs760793648
NM_000254.3(MTR):c.3560T>C (p.Leu1187Pro)
NM_000254.3(MTR):c.3564C>T (p.Thr1188=)
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
NM_000254.3(MTR):c.3576C>G (p.Leu1192=)
NM_000254.3(MTR):c.3585C>T (p.Ile1195=)
NM_000254.3(MTR):c.3588G>A (p.Glu1196=)
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro) rs2147955084
NM_000254.3(MTR):c.3598+13A>C
NM_000254.3(MTR):c.3598+18G>A
NM_000254.3(MTR):c.3598+19C>T
NM_000254.3(MTR):c.3598+20G>A
NM_000254.3(MTR):c.3599-14G>A
NM_000254.3(MTR):c.3599-14G>C
NM_000254.3(MTR):c.3599-17T>C
NM_000254.3(MTR):c.3599-4C>T
NM_000254.3(MTR):c.3599-5T>C
NM_000254.3(MTR):c.3599-6C>G rs2147960863
NM_000254.3(MTR):c.3599-8C>T
NM_000254.3(MTR):c.3600C>A (p.Gly1200=)
NM_000254.3(MTR):c.3600del (p.Ile1201fs) rs1346847201
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.3(MTR):c.3624A>G (p.Ala1208=)
NM_000254.3(MTR):c.3630A>T (p.Ala1210=)
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg) rs777562650
NM_000254.3(MTR):c.3678A>G (p.Lys1226=) rs2147961173
NM_000254.3(MTR):c.3693G>A (p.Gly1231=)
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
NM_000254.3(MTR):c.3699T>A (p.Ile1233=)
NM_000254.3(MTR):c.3711+10C>A
NM_000254.3(MTR):c.3711+10C>T
NM_000254.3(MTR):c.3711+15del
NM_000254.3(MTR):c.3711+194_3711+195insTG rs1553331097
NM_000254.3(MTR):c.3711+194_3711+195insTGCGCGCGCGCGCACGCGCGCG rs1553331097
NM_000254.3(MTR):c.3711+197_3711+198insGCGCGC rs1389522645
NM_000254.3(MTR):c.3711+20A>G
NM_000254.3(MTR):c.3711+22_3711+23del
NM_000254.3(MTR):c.3711+8A>C rs1057523709
NM_000254.3(MTR):c.3712-215_3712-210del rs199985312
NM_000254.3(MTR):c.3712-4G>A
NM_000254.3(MTR):c.3712-5del
NM_000254.3(MTR):c.3712-9C>A
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp) rs2147965312
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
NM_000254.3(MTR):c.3727T>C (p.Leu1243=)
NM_000254.3(MTR):c.3744T>G (p.Ser1248=)
NM_000254.3(MTR):c.3750T>C (p.Ala1250=)
NM_000254.3(MTR):c.375C>T (p.Ala125=)
NM_000254.3(MTR):c.3762A>G (p.Lys1254=)
NM_000254.3(MTR):c.381del (p.Ala128fs)
NM_000254.3(MTR):c.387C>A (p.Ala129=)
NM_000254.3(MTR):c.387C>T (p.Ala129=) rs575706892
NM_000254.3(MTR):c.394G>A (p.Val132Ile)
NM_000254.3(MTR):c.399T>C (p.Thr133=)
NM_000254.3(MTR):c.402C>T (p.Leu134=)
NM_000254.3(MTR):c.409+14T>G
NM_000254.3(MTR):c.409+15_409+17del rs750828089
NM_000254.3(MTR):c.409+17T>C
NM_000254.3(MTR):c.409+25dup
NM_000254.3(MTR):c.409+7A>C rs886046218
NM_000254.3(MTR):c.426G>C (p.Val142=)
NM_000254.3(MTR):c.447T>A (p.Thr149=)
NM_000254.3(MTR):c.450T>C (p.Asn150=) rs1661234823
NM_000254.3(MTR):c.452A>G (p.Lys151Arg) rs2103039190
NM_000254.3(MTR):c.468C>T (p.Ser156=)
NM_000254.3(MTR):c.471A>G (p.Pro157=) rs931152176
NM_000254.3(MTR):c.471A>T (p.Pro157=)
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
NM_000254.3(MTR):c.502+14A>G
NM_000254.3(MTR):c.502+16A>C
NM_000254.3(MTR):c.502+21_502+24dup
NM_000254.3(MTR):c.503-14T>C
NM_000254.3(MTR):c.503-15A>T
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.503-5del
NM_000254.3(MTR):c.504A>C (p.Thr168=)
NM_000254.3(MTR):c.504A>G (p.Thr168=)
NM_000254.3(MTR):c.507T>C (p.Phe169=)
NM_000254.3(MTR):c.510T>C (p.Asp170=)
NM_000254.3(MTR):c.546A>G (p.Gly182=)
NM_000254.3(MTR):c.547C>G (p.Leu183Val)
NM_000254.3(MTR):c.56G>A (p.Arg19Gln)
NM_000254.3(MTR):c.573dup (p.Leu192fs)
NM_000254.3(MTR):c.606C>T (p.Ala202=)
NM_000254.3(MTR):c.609+1088G>A rs752526782
NM_000254.3(MTR):c.609+10G>A rs956538334
NM_000254.3(MTR):c.609+14G>C
NM_000254.3(MTR):c.609+14G>T
NM_000254.3(MTR):c.609+16A>G
NM_000254.3(MTR):c.609+20dup
NM_000254.3(MTR):c.610-10del
NM_000254.3(MTR):c.610-12T>C
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000254.3(MTR):c.610-1_613dup
NM_000254.3(MTR):c.610-6T>C rs769743026
NM_000254.3(MTR):c.610-6T>G
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
NM_000254.3(MTR):c.617del (p.Leu206fs)
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
NM_000254.3(MTR):c.627C>A (p.Leu209=)
NM_000254.3(MTR):c.630A>G (p.Gln210=)
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
NM_000254.3(MTR):c.651T>C (p.Tyr217=)
NM_000254.3(MTR):c.658C>T (p.Arg220Trp)
NM_000254.3(MTR):c.660G>A (p.Arg220=)
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
NM_000254.3(MTR):c.669+12dup
NM_000254.3(MTR):c.669+32_669+33insGTCT rs5781924
NM_000254.3(MTR):c.670-11T>C
NM_000254.3(MTR):c.670-20T>C
NM_000254.3(MTR):c.670-20T>G
NM_000254.3(MTR):c.681G>A (p.Thr227=)
NM_000254.3(MTR):c.684C>A (p.Ile228=)
NM_000254.3(MTR):c.699G>A (p.Gly233=)
NM_000254.3(MTR):c.702G>A (p.Arg234=)
NM_000254.3(MTR):c.726G>A (p.Glu242=)
NM_000254.3(MTR):c.739A>G (p.Ser247Gly) rs1661600753
NM_000254.3(MTR):c.741C>T (p.Ser247=)
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.750T>C (p.His250=)
NM_000254.3(MTR):c.761T>A (p.Leu254His) rs2103062352
NM_000254.3(MTR):c.762C>T (p.Leu254=) rs1661602756
NM_000254.3(MTR):c.764+7G>A
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
NM_000254.3(MTR):c.765-12C>G
NM_000254.3(MTR):c.765-13dup
NM_000254.3(MTR):c.765-4C>T
NM_000254.3(MTR):c.765-5T>C
NM_000254.3(MTR):c.765-5del rs1064795174
NM_000254.3(MTR):c.786G>A (p.Leu262=)
NM_000254.3(MTR):c.792A>G (p.Ala264=)
NM_000254.3(MTR):c.80A>G (p.Gln27Arg) rs1039659576
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000254.3(MTR):c.834A>G (p.Thr278=)
NM_000254.3(MTR):c.860A>G (p.Asn287Ser)
NM_000254.3(MTR):c.865+10T>C
NM_000254.3(MTR):c.865+12A>G rs2103095649
NM_000254.3(MTR):c.865+18G>T
NM_000254.3(MTR):c.865+18dup
NM_000254.3(MTR):c.865+1G>T rs1558288402
NM_000254.3(MTR):c.865+1GT[3] rs2103095576
NM_000254.3(MTR):c.865+7G>T
NM_000254.3(MTR):c.866-13T>G
NM_000254.3(MTR):c.866-16A>C
NM_000254.3(MTR):c.866-252G>A rs75370750
NM_000254.3(MTR):c.866-275G>A rs12060264
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.866-40dup rs5781926
NM_000254.3(MTR):c.866-6T>C
NM_000254.3(MTR):c.866-8T>C
NM_000254.3(MTR):c.873C>G (p.Pro291=)
NM_000254.3(MTR):c.877A>G (p.Thr293Ala) rs2103101092
NM_000254.3(MTR):c.879C>T (p.Thr293=)
NM_000254.3(MTR):c.888C>T (p.Asp296=)
NM_000254.3(MTR):c.894T>C (p.Asp298=)
NM_000254.3(MTR):c.899dup (p.Pro301fs)
NM_000254.3(MTR):c.900G>A (p.Thr300=)
NM_000254.3(MTR):c.901C>T (p.Pro301Ser) rs766371534
NM_000254.3(MTR):c.906T>C (p.Ser302=)
NM_000254.3(MTR):c.907A>G (p.Met303Val)
NM_000254.3(MTR):c.915C>T (p.Ala305=)
NM_000254.3(MTR):c.920dup (p.His307fs)
NM_000254.3(MTR):c.924A>G (p.Leu308=)
NM_000254.3(MTR):c.927+10C>A
NM_000254.3(MTR):c.927+11C>A
NM_000254.3(MTR):c.927+14dup
NM_000254.3(MTR):c.927+18C>G
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C rs1572218599
NM_000254.3(MTR):c.927+20C>T
NM_000254.3(MTR):c.927+20del
NM_000254.3(MTR):c.927+7G>A
NM_000254.3(MTR):c.928-18G>A
NM_000254.3(MTR):c.928-19T>G
NM_000254.3(MTR):c.928-9T>A
NM_000254.3(MTR):c.959T>G (p.Val320Gly) rs1249121056
NM_000254.3(MTR):c.963A>C (p.Gly321=)
NM_000254.3(MTR):c.975G>A (p.Gly325=)
NM_000254.3(MTR):c.981A>C (p.Thr327=)
NM_000254.3(MTR):c.984A>G (p.Pro328=)
NM_000254.3(MTR):c.987T>C (p.Asp329=)
NM_000254.3(MTR):c.995+14A>G
NM_000254.3(MTR):c.995+19C>T
NM_000254.3(MTR):c.996-12C>T
NM_000254.3(MTR):c.996-14C>T
NM_000254.3(MTR):c.99G>A (p.Leu33=)

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