ClinVar Miner

List of variants reported as benign for childhood-onset nemaline myopathy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 659
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.455-53A>C rs527621 0.99850
NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=) rs2919360 0.99001
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=) rs2919359 0.86820
NM_001101362.3(KBTBD13):c.*305C>T rs2946643 0.85557
NM_001164508.2(NEB):c.294+52T>G rs4664499 0.85425
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_001164508.2(NEB):c.402+101A>G rs4300824 0.78142
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001164508.2(NEB):c.24580-81A>G rs4664455 0.65048
NM_001164508.2(NEB):c.24766-18C>T rs2288195 0.64910
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001164508.2(NEB):c.20158-42G>A rs2288201 0.63566
NM_001100.4(ACTA1):c.-65T>C rs605430 0.63378
NM_001100.4(ACTA1):c.-66C>T rs605428 0.63361
NM_152263.4(TPM3):c.776-49T>C rs4845364 0.62465
NM_001164508.2(NEB):c.1674+30T>G rs6433569 0.62430
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=) rs6709886 0.62301
NM_001164508.2(NEB):c.21840+82A>G rs2288198 0.61992
NM_001164508.2(NEB):c.22162-108C>T rs2288196 0.59579
NM_001164508.2(NEB):c.22800+32C>T rs16830136 0.59551
NM_001164508.2(NEB):c.20368-57G>A rs4664486 0.59006
NM_001164508.2(NEB):c.20998-44A>C rs3732310 0.56531
NM_001164508.2(NEB):c.19731+103G>T rs4575719 0.55813
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001164508.2(NEB):c.21522+78C>G rs60806638 0.55600
NM_001164508.2(NEB):c.10452+71T>C rs10186482 0.50955
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val) rs2919358 0.46622
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=) rs2946642 0.45129
NM_001101362.3(KBTBD13):c.*122T>C rs12901617 0.41689
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001101362.3(KBTBD13):c.*897A>G rs12905499 0.40070
NM_001101362.3(KBTBD13):c.*520A>G rs12904843 0.36673
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001164508.2(NEB):c.1675-67C>T rs10193188 0.29744
NM_001164508.2(NEB):c.5763+35T>C rs12620077 0.29408
NM_001164508.2(NEB):c.8160+84G>A rs4664494 0.29054
NM_001164508.2(NEB):c.19314+42C>T rs2288206 0.27894
NM_001164508.2(NEB):c.18366+78T>C rs7602715 0.27138
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_001164508.2(NEB):c.5763+281G>A rs12616767 0.26661
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_001164508.2(NEB):c.16909-168C>T rs3771901 0.26318
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001164508.2(NEB):c.24393+60A>C rs10497081 0.26227
NM_001164508.2(NEB):c.24874-47A>T rs2288193 0.26026
NM_001164508.2(NEB):c.25405-34T>C rs16830090 0.25362
NM_001164508.2(NEB):c.17535+90A>G rs3732312 0.24731
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_001164508.2(NEB):c.18156+222T>A rs12052998 0.24703
NM_213674.1(TPM2):c.-137T>A rs3793540 0.23673
NM_213674.1(TPM2):c.-136T>A rs3793539 0.23669
NM_213674.1(TPM2):c.-135T>A rs3793538 0.23661
NM_001164508.2(NEB):c.11077-19T>C rs4303716 0.21438
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_001164508.2(NEB):c.4611+70T>C rs58903550 0.20373
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713 0.20353
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001164508.2(NEB):c.11289+99G>A rs62174707 0.19979
NM_001164508.2(NEB):c.3901= (p.Tyr1301=) rs6711382 0.18897
NM_001164508.2(NEB):c.5031+48A>G rs4664496 0.18844
NM_001164508.2(NEB):c.8161-118A>T rs35172004 0.18143
NM_001164508.2(NEB):c.3879+20G>T rs12618063 0.17493
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_001164508.2(NEB):c.7957-152C>T rs28375835 0.12498
NM_001164508.2(NEB):c.12018+29G>A rs11902616 0.11589
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_001164508.2(NEB):c.6184-14T>A rs10173335 0.09664
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr) rs28763868 0.08132
NM_001164508.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687 0.08083
NM_001164508.2(NEB):c.25150+12G>A rs4414676 0.07283
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200 0.04316
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=) rs16830192 0.04050
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_001164508.2(NEB):c.21382T>C (p.Leu7128=) rs114218081 0.02752
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02589
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=) rs116623596 0.01793
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_152263.4(TPM3):c.*2409G>C rs142369480 0.01426
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191 0.01369
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_006063.3(KLHL41):c.1251A>G (p.Val417=) rs79580851 0.01239
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_001164508.2(NEB):c.3775-6T>C rs80232472 0.01222
NM_152263.4(TPM3):c.*1791G>A rs114799756 0.01222
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=) rs35808744 0.01201
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_001101362.3(KBTBD13):c.*1611G>A rs16948496 0.01149
NM_001164508.2(NEB):c.8646C>T (p.Asp2882=) rs61730773 0.01142
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001164508.2(NEB):c.3147+5G>A rs74859201 0.01118
NM_001164508.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727 0.01117
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=) rs150830358 0.01081
NM_001164508.2(NEB):c.5763+4C>T rs78916288 0.01075
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe) rs28730867 0.00983
NM_001164508.2(NEB):c.8995-14T>C rs79875240 0.00977
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=) rs145252235 0.00972
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.00961
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127 0.00920
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=) rs80320923 0.00914
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=) rs16830216 0.00914
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_001164508.2(NEB):c.10338T>C (p.Asn3446=) rs147569843 0.00870
NM_001164508.2(NEB):c.10344C>T (p.Asn3448=) rs145052299 0.00870
NM_001164508.2(NEB):c.10347+6C>T rs141088433 0.00870
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=) rs115182478 0.00729
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017 0.00692
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_001101362.3(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369 0.00642
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849 0.00597
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.*2069C>T rs140536164 0.00588
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=) rs139963368 0.00547
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=) rs35273905 0.00526
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=) rs140688592 0.00517
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
NM_006063.3(KLHL41):c.15G>A (p.Arg5=) rs144048872 0.00495
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_001164508.2(NEB):c.24264G>A (p.Met8088Ile) rs144709880 0.00436
NM_001164508.2(NEB):c.2640C>T (p.Arg880=) rs114959904 0.00433
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883 0.00426
NM_001101362.3(KBTBD13):c.*222G>A rs114112578 0.00410
NM_001164508.2(NEB):c.11077-20_11077-19insC rs1553905611 0.00400
NM_001100.4(ACTA1):c.617-5C>T rs199804338 0.00399
NM_001164508.2(NEB):c.1981C>T (p.Leu661=) rs146460133 0.00395
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_001101362.3(KBTBD13):c.*1075C>T rs75894955 0.00380
NM_001164508.2(NEB):c.6166A>G (p.Arg2056Gly) rs115350357 0.00379
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_001164508.2(NEB):c.612+15C>T rs112288851 0.00360
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu) rs3732309 0.00351
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_001164508.2(NEB):c.1257+13A>T rs75320668 0.00345
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609 0.00327
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00320
NM_001101362.3(KBTBD13):c.*995T>C rs146228424 0.00305
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272 0.00305
NM_001101362.3(KBTBD13):c.*1650T>C rs142046728 0.00304
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=) rs146294986 0.00286
NM_001164508.2(NEB):c.24056C>T (p.Pro8019Leu) rs189655274 0.00280
NM_001164508.2(NEB):c.5032-15T>C rs201180226 0.00277
NM_001101362.3(KBTBD13):c.*1499T>C rs117320020 0.00275
NM_001101362.3(KBTBD13):c.*1122C>T rs111801368 0.00252
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=) rs368781046 0.00246
NM_001164508.2(NEB):c.2523+20C>G rs186473611 0.00245
NM_001164508.2(NEB):c.20682+13G>A rs189918704 0.00244
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001101362.3(KBTBD13):c.*1556G>A rs148606250 0.00226
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=) rs200018782 0.00226
NM_001164508.2(NEB):c.675G>A (p.Pro225=) rs138528093 0.00225
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001101362.3(KBTBD13):c.115G>C (p.Gly39Arg) rs201420126 0.00223
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=) rs149162847 0.00217
NM_001164508.2(NEB):c.20466+11A>G rs181826071 0.00206
NM_001164508.2(NEB):c.22050+13C>T rs113403461 0.00197
NM_001164508.2(NEB):c.10452+9A>G rs117270796 0.00190
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=) rs117018177 0.00190
NM_001164508.2(NEB):c.11076+12A>G rs201250579 0.00186
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=) rs3821324 0.00183
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325 0.00181
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644 0.00178
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658 0.00175
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln) rs118191309 0.00171
NM_001164508.2(NEB):c.5718C>T (p.Ala1906=) rs115379999 0.00169
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.3639C>T (p.Val1213=) rs74320183 0.00164
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=) rs76875207 0.00160
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=) rs187211085 0.00156
NM_001164508.2(NEB):c.16449C>T (p.Ser5483=) rs546992311 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_001164508.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072 0.00146
NM_001164508.2(NEB):c.19665T>C (p.Ile6555=) rs150842230 0.00138
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=) rs143456239 0.00136
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001164508.2(NEB):c.24874-8C>T rs200902944 0.00134
NM_001164508.2(NEB):c.2637+17A>G rs145112154 0.00133
NM_001164508.2(NEB):c.1035+16C>A rs141976907 0.00131
NM_001164508.2(NEB):c.16788C>T (p.Asn5596=) rs186902443 0.00128
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=) rs369897667 0.00125
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_006063.3(KLHL41):c.684A>C (p.Thr228=) rs141395388 0.00123
NM_001164508.2(NEB):c.12640-4A>G rs549888246 0.00122
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001164508.2(NEB):c.17601G>A (p.Val5867=) rs58263509 0.00118
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 0.00117
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001164508.2(NEB):c.469A>G (p.Ile157Val) rs188718613 0.00115
NM_001101362.3(KBTBD13):c.1119C>T (p.Asn373=) rs201760548 0.00109
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 0.00109
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=) rs368719373 0.00108
NM_001164508.2(NEB):c.2604G>T (p.Leu868=) rs201698008 0.00108
NM_001101362.3(KBTBD13):c.981C>G (p.Thr327=) rs184130258 0.00106
NM_001164508.2(NEB):c.6808-11T>C rs199804593 0.00106
NM_001101362.3(KBTBD13):c.117C>T (p.Gly39=) rs367684457 0.00105
NM_001164508.2(NEB):c.8373+13G>A rs199564399 0.00105
NM_001164508.2(NEB):c.21840+13A>C rs75515097 0.00104
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=) rs200624735 0.00101
NM_001164508.2(NEB):c.8643C>T (p.Ser2881=) rs150135749 0.00100
NM_001164508.2(NEB):c.3801T>C (p.Asp1267=) rs182725059 0.00096
NM_001164508.2(NEB):c.9315C>A (p.Val3105=) rs371174518 0.00096
NM_006063.3(KLHL41):c.652G>A (p.Val218Met) rs147527225 0.00096
NM_001164508.2(NEB):c.3987+11A>T rs116903097 0.00092
NM_001164508.2(NEB):c.1897-16A>G rs186001008 0.00091
NM_001164508.2(NEB):c.9354A>G (p.Thr3118=) rs187637065 0.00089
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=) rs375543045 0.00088
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053 0.00083
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) rs148095660 0.00081
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032 0.00081
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960 0.00079
NM_001101362.3(KBTBD13):c.171T>C (p.Gly57=) rs369379657 0.00078
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_001164508.2(NEB):c.25161G>A (p.Gln8387=) rs376897146 0.00076
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001164508.2(NEB):c.5763+15C>T rs148455519 0.00073
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_001164508.2(NEB):c.4720-18C>T rs79402065 0.00071
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855 0.00066
NM_001164508.2(NEB):c.23241+16C>T rs75221580 0.00061
NM_001164508.2(NEB):c.23451+14A>C rs190098609 0.00061
NM_001164508.2(NEB):c.2524-15G>T rs151206071 0.00059
NM_001164508.2(NEB):c.20367+16G>C rs145636096 0.00058
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=) rs183998406 0.00058
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095 0.00049
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647 0.00048
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778 0.00046
NM_001164508.2(NEB):c.9820G>A (p.Val3274Ile) rs201288341 0.00040
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001101362.3(KBTBD13):c.795C>T (p.Gly265=) rs577503698 0.00038
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
NM_001164508.2(NEB):c.18897G>T (p.Val6299=) rs568599013 0.00037
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001101362.3(KBTBD13):c.963G>A (p.Val321=) rs548699720 0.00036
NM_001164508.2(NEB):c.11911-17T>C rs144836165 0.00036
NM_001164508.2(NEB):c.20466+7G>A rs201684605 0.00035
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu) rs185496567 0.00034
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00033
NM_001101362.3(KBTBD13):c.471C>T (p.Tyr157=) rs550724858 0.00032
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser) rs189541265 0.00032
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala) rs147476634 0.00032
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 0.00029
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001164508.2(NEB):c.24487-12G>T rs534797175 0.00028
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp) rs202145313 0.00026
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462 0.00026
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu) rs370206339 0.00025
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu) rs202191938 0.00024
NM_001164508.2(NEB):c.25141A>C (p.Met8381Leu) rs147872436 0.00024
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001164508.2(NEB):c.492G>A (p.Ser164=) rs371015050 0.00022
NM_006063.3(KLHL41):c.1578C>T (p.Thr526=) rs562170123 0.00022
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206 0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His) rs568675071 0.00020
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483 0.00020
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg) rs189912759 0.00019
NM_001164508.2(NEB):c.19326G>C (p.Arg6442=) rs779349365 0.00019
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His) rs377748897 0.00019
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114 0.00019
NM_001164508.2(NEB):c.5225T>G (p.Leu1742Arg) rs202113159 0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met) rs377375638 0.00019
NM_001101362.3(KBTBD13):c.1305C>T (p.Ser435=) rs777830269 0.00018
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His) rs149596493 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001164508.2(NEB):c.21491G>A (p.Arg7164His) rs16830171 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641 0.00018
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys) rs200555425 0.00017
NM_001164508.2(NEB):c.6486A>G (p.Ile2162Met) rs370994522 0.00017
NM_001164508.2(NEB):c.6807+10T>C rs375723456 0.00017
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001101362.3(KBTBD13):c.958G>T (p.Val320Leu) rs367648853 0.00016
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val) rs375646776 0.00016
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp) rs200165006 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707 0.00016
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_001164508.2(NEB):c.10347+18A>G rs200915591 0.00015
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met) rs374961597 0.00015
NM_001101362.3(KBTBD13):c.1232C>T (p.Thr411Met) rs372826347 0.00014
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171 0.00014
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val) rs369957704 0.00014
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser) rs376194864 0.00014
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr) rs368328716 0.00014
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102 0.00014
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met) rs370810654 0.00014
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn) rs562175196 0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu) rs373133009 0.00013
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln) rs372804439 0.00012
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.780A>G (p.Pro260=) rs80255720 0.00012
NM_001164508.2(NEB):c.853A>G (p.Ile285Val) rs773114380 0.00012
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser) rs377071831 0.00011
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609 0.00011
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683 0.00011
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn) rs201337732 0.00011
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His) rs377443184 0.00011
NM_001164508.2(NEB):c.24207+17G>C rs373742185 0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp) rs373551215 0.00011
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val) rs370172690 0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys) rs374390581 0.00010
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His) rs773239926 0.00010
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln) rs556624010 0.00010
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=) rs563896790 0.00010
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn) rs200672818 0.00009
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile) rs370695020 0.00009
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His) rs139333406 0.00009
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579 0.00009
NM_001101362.3(KBTBD13):c.436C>A (p.Arg146Ser) rs922207893 0.00008
NM_001101362.3(KBTBD13):c.670G>A (p.Val224Met) rs377035059 0.00008
NM_001164508.2(NEB):c.11277T>C (p.Asp3759=) rs775887711 0.00008
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr) rs577939684 0.00008
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val) rs541672313 0.00008
NM_001164508.2(NEB):c.22341G>C (p.Lys7447Asn) rs544200886 0.00008
NM_001164508.2(NEB):c.24186C>A (p.His8062Gln) rs557951728 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met) rs767584361 0.00007
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr) rs536677256 0.00007
NM_001164508.2(NEB):c.2475C>T (p.Asp825=) rs180881237 0.00007
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831 0.00007
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu) rs200468391 0.00007
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) rs755775428 0.00006
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser) rs779819069 0.00006
NM_001101362.3(KBTBD13):c.891C>T (p.Gly297=) rs756802075 0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.18156+17T>G rs200662106 0.00006
NM_001164508.2(NEB):c.18322C>T (p.Pro6108Ser) rs750393216 0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val) rs750039342 0.00006
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln) rs766072117 0.00006
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr) rs756135837 0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00006
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys) rs756926807 0.00006
NM_001164508.2(NEB):c.7875G>A (p.Lys2625=) rs577894144 0.00006
NM_152263.4(TPM3):c.*1291A>G rs375670563 0.00006
NM_001101362.3(KBTBD13):c.947A>C (p.Asp316Ala) rs1021462149 0.00005
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His) rs371605774 0.00005
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His) rs550715282 0.00005
NM_001164508.2(NEB):c.11182-8T>A rs183088493 0.00005
NM_001164508.2(NEB):c.23346+13G>A rs564325749 0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr) rs753428817 0.00005
NM_001164508.2(NEB):c.4481A>G (p.Gln1494Arg) rs769642582 0.00005
NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val) rs761956085 0.00005
NM_001164508.2(NEB):c.7246C>G (p.Leu2416Val) rs747337656 0.00005
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg) rs202035863 0.00005
NM_152263.4(TPM3):c.327T>G (p.Thr109=) rs764255899 0.00005
NM_001101362.3(KBTBD13):c.499C>G (p.Pro167Ala) rs749520412 0.00004
NM_001101362.3(KBTBD13):c.977G>A (p.Arg326Gln) rs779729198 0.00004
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met) rs775362248 0.00004
NM_001164508.2(NEB):c.11763G>A (p.Pro3921=) rs554366790 0.00004
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162 0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly) rs747282707 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00004
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu) rs777231395 0.00004
NM_003289.4(TPM2):c.374+9G>C rs200730708 0.00004
NM_152263.4(TPM3):c.495+7G>C rs749792884 0.00004
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly) rs1384295949 0.00003
NM_001101362.3(KBTBD13):c.329G>A (p.Cys110Tyr) rs1479308750 0.00003
NM_001164508.2(NEB):c.12210C>G (p.Ala4070=) rs749556191 0.00003
NM_001164508.2(NEB):c.17520G>A (p.Ala5840=) rs372786852 0.00003
NM_001164508.2(NEB):c.17922G>T (p.Leu5974=) rs1327308371 0.00003
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=) rs753253128 0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His) rs781020561 0.00003
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser) rs775756899 0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu) rs571935637 0.00003
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=) rs543961404 0.00003
NM_001164508.2(NEB):c.4835G>A (p.Arg1612His) rs534531948 0.00003
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val) rs201940342 0.00003
NM_001164508.2(NEB):c.586G>A (p.Val196Ile) rs201433028 0.00003
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val) rs779481792 0.00003
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala) rs578023308 0.00003
NM_001164508.2(NEB):c.6613C>T (p.Arg2205Cys) rs577410545 0.00003
NM_003289.4(TPM2):c.-65C>T rs377242459 0.00003
NM_001101362.3(KBTBD13):c.1226T>C (p.Met409Thr) rs767005954 0.00002
NM_001101362.3(KBTBD13):c.451G>A (p.Ala151Thr) rs1167697962 0.00002
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793 0.00002
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln) rs375182306 0.00002
NM_001164508.2(NEB):c.24021G>A (p.Ser8007=) rs557688789 0.00002
NM_001164508.2(NEB):c.24040G>A (p.Val8014Ile) rs182325166 0.00002
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp) rs561904743 0.00002
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=) rs771527086 0.00002
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His) rs771495234 0.00002
NM_001164508.2(NEB):c.8860G>T (p.Ala2954Ser) rs764538619 0.00002
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly) rs765940770 0.00002
NM_001101362.3(KBTBD13):c.1220A>G (p.Asn407Ser) rs1457792778 0.00001
NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635 0.00001
NM_001101362.3(KBTBD13):c.222G>A (p.Ala74=) rs752135049 0.00001
NM_001101362.3(KBTBD13):c.319G>A (p.Ala107Thr) rs944999468 0.00001
NM_001101362.3(KBTBD13):c.844G>A (p.Ala282Thr) rs375482474 0.00001
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=) rs774372075 0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=) rs547109690 0.00001
NM_001164508.2(NEB):c.17606C>T (p.Ala5869Val) rs79205344 0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207 0.00001
NM_001164508.2(NEB):c.1839C>T (p.Ser613=) rs751976783 0.00001
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=) rs541088387 0.00001
NM_001164508.2(NEB):c.19363C>T (p.Pro6455Ser) rs377112785 0.00001
NM_001164508.2(NEB):c.19837-12T>C rs577874679 0.00001
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685 0.00001
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu) rs763365852 0.00001
NM_001164508.2(NEB):c.3248C>T (p.Ala1083Val) rs532130242 0.00001
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn) rs534646949 0.00001
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr) rs756130763 0.00001
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln) rs369456343 0.00001
NM_001164508.2(NEB):c.9723+7G>A rs557480322 0.00001
NM_003289.4(TPM2):c.813C>T (p.Ser271=) rs201215303 0.00001
NM_001100.4(ACTA1):c.129+16C>T rs148084911
NM_001100.4(ACTA1):c.130-20G>T rs201437341
NM_001100.4(ACTA1):c.454+15C>T rs201388631
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_001100.4(ACTA1):c.809-18dup rs398123565
NM_001100.4(ACTA1):c.809-3del
NM_001101362.3(KBTBD13):c.*846G>T rs17804968
NM_001101362.3(KBTBD13):c.1225A>C (p.Met409Leu)
NM_001101362.3(KBTBD13):c.1309C>G (p.Gln437Glu) rs749128043
NM_001101362.3(KBTBD13):c.133G>T (p.Ala45Ser)
NM_001101362.3(KBTBD13):c.1358C>T (p.Ser453Leu) rs753712072
NM_001101362.3(KBTBD13):c.172_191del (p.Phe58fs) rs778782105
NM_001101362.3(KBTBD13):c.288T>G (p.Phe96Leu) rs759474251
NM_001101362.3(KBTBD13):c.293A>T (p.Glu98Val) rs930704522
NM_001101362.3(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.3(KBTBD13):c.370A>G (p.Ser124Gly)
NM_001101362.3(KBTBD13):c.403G>C (p.Glu135Gln) rs530549178
NM_001101362.3(KBTBD13):c.458G>A (p.Arg153Gln)
NM_001101362.3(KBTBD13):c.502G>A (p.Gly168Ser) rs1595912667
NM_001101362.3(KBTBD13):c.516C>G (p.Asp172Glu) rs142592180
NM_001101362.3(KBTBD13):c.516C>T (p.Asp172=) rs142592180
NM_001101362.3(KBTBD13):c.662G>A (p.Ser221Asn)
NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala) rs757250245
NM_001101362.3(KBTBD13):c.892G>C (p.Val298Leu)
NM_001101362.3(KBTBD13):c.958G>A (p.Val320Met) rs367648853
NM_001164508.2(NEB):c.10275G>A (p.Lys3425=) rs1205545857
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val) rs535926481
NM_001164508.2(NEB):c.10458C>G (p.Leu3486=)
NM_001164508.2(NEB):c.10872+27A>C rs10186656
NM_001164508.2(NEB):c.1101A>G (p.Ser367=)
NM_001164508.2(NEB):c.11024C>T (p.Thr3675Met)
NM_001164508.2(NEB):c.11077-35CT[9] rs369065019
NM_001164508.2(NEB):c.11289+15del
NM_001164508.2(NEB):c.11290-3del rs1469187168
NM_001164508.2(NEB):c.1153-10dup rs776691267
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001164508.2(NEB):c.11778A>C (p.Ala3926=)
NM_001164508.2(NEB):c.12640-11dup
NM_001164508.2(NEB):c.13264-13dup
NM_001164508.2(NEB):c.13264-6dup
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001164508.2(NEB):c.13788+15del
NM_001164508.2(NEB):c.1422C>A (p.Thr474=)
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.1622C>G (p.Pro541Arg)
NM_001164508.2(NEB):c.1675-8_1675-7del rs749876066
NM_001164508.2(NEB):c.16820G>A (p.Arg5607Gln)
NM_001164508.2(NEB):c.16856T>C (p.Val5619Ala)
NM_001164508.2(NEB):c.17036A>T (p.Asp5679Val)
NM_001164508.2(NEB):c.17135A>G (p.Asp5712Gly)
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.17635-4_17635-3dup rs3214503
NM_001164508.2(NEB):c.18297T>G (p.Pro6099=)
NM_001164508.2(NEB):c.18579+11C>T rs567282220
NM_001164508.2(NEB):c.18694-9del rs753417927
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001164508.2(NEB):c.19008A>G (p.Thr6336=)
NM_001164508.2(NEB):c.19057C>T (p.Pro6353Ser)
NM_001164508.2(NEB):c.19206+18del rs761735803
NM_001164508.2(NEB):c.19206+18dup
NM_001164508.2(NEB):c.1924A>G (p.Thr642Ala)
NM_001164508.2(NEB):c.19429-11dup
NM_001164508.2(NEB):c.19732-15del
NM_001164508.2(NEB):c.20263-7dup rs763008896
NM_001164508.2(NEB):c.20322A>T (p.Thr6774=)
NM_001164508.2(NEB):c.20467-4dup rs10687343
NM_001164508.2(NEB):c.20769G>C (p.Val6923=)
NM_001164508.2(NEB):c.20805A>G (p.Gln6935=)
NM_001164508.2(NEB):c.20893-11dup rs766816927
NM_001164508.2(NEB):c.20998-13dup rs1269728736
NM_001164508.2(NEB):c.21189C>T (p.Asn7063=)
NM_001164508.2(NEB):c.21208-5del rs888362153
NM_001164508.2(NEB):c.21208-5dup rs888362153
NM_001164508.2(NEB):c.21323A>T (p.Lys7108Ile)
NM_001164508.2(NEB):c.21356G>A (p.Cys7119Tyr)
NM_001164508.2(NEB):c.21418-6del rs56026241
NM_001164508.2(NEB):c.2145A>G (p.Lys715=)
NM_001164508.2(NEB):c.21523-11dup
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.21702A>G (p.Lys7234=)
NM_001164508.2(NEB):c.21735+7_21735+10dup
NM_001164508.2(NEB):c.22083G>A (p.Leu7361=)
NM_001164508.2(NEB):c.22134C>T (p.Val7378=)
NM_001164508.2(NEB):c.22161+18G>C rs6721666
NM_001164508.2(NEB):c.2226T>G (p.Val742=)
NM_001164508.2(NEB):c.22272+9del rs2153447269
NM_001164508.2(NEB):c.22512G>A (p.Lys7504=)
NM_001164508.2(NEB):c.22591-12dup
NM_001164508.2(NEB):c.22905+13_22905+14dup
NM_001164508.2(NEB):c.22905+14dup rs565867868
NM_001164508.2(NEB):c.22906-19T>G
NM_001164508.2(NEB):c.22968C>G (p.Val7656=)
NM_001164508.2(NEB):c.23034T>G (p.Asp7678Glu)
NM_001164508.2(NEB):c.23128-19del
NM_001164508.2(NEB):c.23128-19dup rs369229042
NM_001164508.2(NEB):c.23451+10del rs1338093963
NM_001164508.2(NEB):c.23649+10_23649+11del rs772001300
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.24114+11dup
NM_001164508.2(NEB):c.24114+18dup
NM_001164508.2(NEB):c.24612C>A (p.Thr8204=)
NM_001164508.2(NEB):c.24672+7dup rs750437206
NM_001164508.2(NEB):c.25212G>T (p.Gly8404=)
NM_001164508.2(NEB):c.25298-11dup rs34415027
NM_001164508.2(NEB):c.25298-4del
NM_001164508.2(NEB):c.25298-4dup rs757290966
NM_001164508.2(NEB):c.25405-17dup rs148839798
NM_001164508.2(NEB):c.25515T>C (p.Tyr8505=)
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser) rs751394716
NM_001164508.2(NEB):c.2679C>T (p.Tyr893=)
NM_001164508.2(NEB):c.2836-3del
NM_001164508.2(NEB):c.3043-16dup rs760628422
NM_001164508.2(NEB):c.3076C>T (p.His1026Tyr)
NM_001164508.2(NEB):c.307G>C (p.Glu103Gln)
NM_001164508.2(NEB):c.3088C>T (p.Leu1030=)
NM_001164508.2(NEB):c.3264C>T (p.Tyr1088=)
NM_001164508.2(NEB):c.3504C>T (p.Tyr1168=)
NM_001164508.2(NEB):c.36+19del
NM_001164508.2(NEB):c.36+19dup rs148527227
NM_001164508.2(NEB):c.3774+15del
NM_001164508.2(NEB):c.3817A>G (p.Thr1273Ala)
NM_001164508.2(NEB):c.3892C>T (p.Arg1298Trp)
NM_001164508.2(NEB):c.3933G>A (p.Leu1311=)
NM_001164508.2(NEB):c.4137C>A (p.Thr1379=)
NM_001164508.2(NEB):c.4338C>T (p.Gly1446=)
NM_001164508.2(NEB):c.4342G>A (p.Gly1448Arg)
NM_001164508.2(NEB):c.4477G>C (p.Ala1493Pro)
NM_001164508.2(NEB):c.4612-5dup
NM_001164508.2(NEB):c.5032-13del rs148862132
NM_001164508.2(NEB):c.5032-13dup rs148862132
NM_001164508.2(NEB):c.5276C>T (p.Thr1759Ile)
NM_001164508.2(NEB):c.5291C>T (p.Pro1764Leu)
NM_001164508.2(NEB):c.5385A>T (p.Gly1795=)
NM_001164508.2(NEB):c.5742T>C (p.Asn1914=)
NM_001164508.2(NEB):c.5805T>C (p.Ile1935=)
NM_001164508.2(NEB):c.5913A>G (p.Thr1971=)
NM_001164508.2(NEB):c.613-8dup rs757844100
NM_001164508.2(NEB):c.6172A>T (p.Ile2058Phe) rs543827269
NM_001164508.2(NEB):c.6621C>T (p.His2207=)
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser) rs768864684
NM_001164508.2(NEB):c.666T>C (p.Asn222=)
NM_001164508.2(NEB):c.6703-13del rs763294980
NM_001164508.2(NEB):c.6703-13dup rs763294980
NM_001164508.2(NEB):c.6780C>T (p.Ala2260=)
NM_001164508.2(NEB):c.6808-4del rs2099060261
NM_001164508.2(NEB):c.6808-7dup rs2099060261
NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu)
NM_001164508.2(NEB):c.6862G>C (p.Val2288Leu)
NM_001164508.2(NEB):c.7515A>G (p.Ala2505=)
NM_001164508.2(NEB):c.7645-14dup rs1299254549
NM_001164508.2(NEB):c.7645-7del
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu) rs549227905
NM_001164508.2(NEB):c.8088A>G (p.Gln2696=)
NM_001164508.2(NEB):c.823-5dup
NM_001164508.2(NEB):c.8841C>T (p.Asp2947=)
NM_001164508.2(NEB):c.8890-6dup
NM_001164508.2(NEB):c.8922G>A (p.Lys2974=)
NM_001164508.2(NEB):c.8994+16_8994+17del rs745485126
NM_001164508.2(NEB):c.8995-14del rs770495295
NM_001164508.2(NEB):c.8995-14dup
NM_001164508.2(NEB):c.9015T>A (p.Asn3005Lys)
NM_001164508.2(NEB):c.903A>T (p.Arg301Ser)
NM_001164508.2(NEB):c.915T>C (p.Asp305=)
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001164508.2(NEB):c.9415-12del
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001164508.2(NEB):c.9636C>T (p.Ala3212=)
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln) rs200930670
NM_003289.4(TPM2):c.*7C>T rs79882576
NM_006063.3(KLHL41):c.1111-21_1111-18del rs143361344
NM_006063.3(KLHL41):c.1111-4del
NM_006063.3(KLHL41):c.1111-4dup rs752977858
NM_006063.3(KLHL41):c.1710-11dup rs762591099
NM_006063.3(KLHL41):c.519A>G (p.Gln173=) rs144844327
NM_152263.4(TPM3):c.243+11GA[2] rs146969764

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