ClinVar Miner

List of variants in gene NEB studied for not specified

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Gene type:
ClinVar version:
Total variants: 454
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
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.822+25_822+27dup rs397718862 0.67978
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.20158-42G>A rs2288201 0.63566
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.20998-44A>C rs3732310 0.56531
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
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.5763+35T>C rs12620077 0.29408
NM_001164508.2(NEB):c.19314+42C>T rs2288206 0.27894
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
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.14934+16_14934+17insG rs11436831 0.19706
NM_001164508.2(NEB):c.16544A>C (p.Lys5515Thr) rs62174690 0.19114
NM_001164508.2(NEB):c.5031+48A>G rs4664496 0.18844
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.13788+12C>G rs876657543 0.14589
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_001164508.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687 0.08083
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_001164508.2(NEB):c.19101+41C>T rs4364020 0.05469
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.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_001164508.2(NEB):c.16284+11A>G rs367881797 0.03368
NM_001164508.2(NEB):c.16704+12G>C rs62174689 0.03145
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.19206+46C>A rs76261031 0.02628
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_001164508.2(NEB):c.16021T>C (p.Leu5341=) rs796103760 0.02016
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_001164508.2(NEB):c.16542C>G (p.Ala5514=) rs200602229 0.01666
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001164508.2(NEB):c.18580-32C>T rs62174683 0.01540
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_001164508.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241 0.01414
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_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_001164508.2(NEB):c.3775-6T>C rs80232472 0.01222
NM_001164508.2(NEB):c.1152+49A>G rs113401628 0.01197
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_001164508.2(NEB):c.8646C>T (p.Asp2882=) rs61730773 0.01142
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_001164508.2(NEB):c.5763+4C>T rs78916288 0.01075
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001164508.2(NEB):c.7644+25T>C rs78226234 0.01006
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.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_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.1569+38G>A rs76127015 0.00863
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_001164508.2(NEB):c.16622G>A (p.Arg5541His) rs182029307 0.00735
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_001164508.2(NEB):c.19732-39G>C rs144077905 0.00690
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_001164508.2(NEB):c.15960C>T (p.Tyr5320=) rs1201277571 0.00613
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_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.2640C>T (p.Arg880=) rs114959904 0.00433
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883 0.00426
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
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.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.16284+6A>G rs573898757 0.00338
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.1675-9T>G rs75118047 0.00324
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.5032-15T>C rs201180226 0.00277
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
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.14514C>T (p.Ser4838=) rs1057522066 0.00239
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993 0.00238
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001164508.2(NEB):c.14811T>C (p.Ala4937=) rs71415153 0.00233
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=) rs200018782 0.00226
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.16192G>A (p.Asp5398Asn) rs750810441 0.00204
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
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.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_001164508.2(NEB):c.11076+12A>G rs201250579 0.00186
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325 0.00181
NM_001164508.2(NEB):c.18579+6T>C rs116189169 0.00180
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644 0.00178
NM_001164508.2(NEB):c.5718C>T (p.Ala1906=) rs115379999 0.00169
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326 0.00166
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452 0.00165
NM_001164508.2(NEB):c.3639C>T (p.Val1213=) rs74320183 0.00164
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223 0.00162
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His) rs35555631 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.2318A>G (p.Tyr773Cys) rs77151072 0.00146
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=) rs143456239 0.00136
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.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=) rs369897667 0.00125
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 0.00109
NM_001164508.2(NEB):c.8373+13G>A rs199564399 0.00105
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His) rs201111610 0.00092
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.10434T>C (p.Asn3478=) rs375543045 0.00088
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_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.14914T>A (p.Ser4972Thr) rs776187492 0.00071
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu) rs192117840 0.00071
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_001164508.2(NEB):c.4720-18C>T rs79402065 0.00071
NM_001164508.2(NEB):c.15892C>T (p.Arg5298Cys) rs931064362 0.00065
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp) rs77994592 0.00065
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.19284C>T (p.His6428=) rs201005449 0.00056
NM_001164508.2(NEB):c.14869T>A (p.Tyr4957Asn) rs756192566 0.00055
NM_001164508.2(NEB):c.14826+11G>A rs71415152 0.00053
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001164508.2(NEB):c.20998-49C>T rs374484102 0.00049
NM_001164508.2(NEB):c.20263-18G>A rs377143618 0.00047
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429 0.00046
NM_001164508.2(NEB):c.2107-8C>T rs369441230 0.00042
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001164508.2(NEB):c.11911-17T>C rs144836165 0.00036
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His) rs368915047 0.00035
NM_001164508.2(NEB):c.20466+7G>A rs201684605 0.00035
NM_001164508.2(NEB):c.6183+17C>T rs371738434 0.00034
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu) rs185496567 0.00034
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.12718G>A (p.Ala4240Thr) rs561736266 0.00022
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=) rs144673752 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg) rs189912759 0.00019
NM_001164508.2(NEB):c.5225T>G (p.Leu1742Arg) rs202113159 0.00019
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00016
NM_001164508.2(NEB):c.16269C>T (p.Ala5423=) rs542916866 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001164508.2(NEB):c.10377C>T (p.Asp3459=) rs373823362 0.00013
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001164508.2(NEB):c.9195C>T (p.His3065=) rs374734631 0.00013
NM_001164508.2(NEB):c.10609G>A (p.Ala3537Thr) rs556492694 0.00012
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val) rs149384863 0.00012
NM_001164508.2(NEB):c.12316G>A (p.Asp4106Asn) rs192843524 0.00012
NM_001164508.2(NEB):c.19944+14A>T rs147106649 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.1152+5G>A rs111404077 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.5724C>T (p.Ser1908=) rs370965998 0.00008
NM_001164508.2(NEB):c.14826+10C>T rs769453286 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001164508.2(NEB):c.17736+36C>T rs371183779 0.00007
NM_001164508.2(NEB):c.3936C>T (p.Gly1312=) rs753005851 0.00007
NM_001164508.2(NEB):c.5160C>T (p.Pro1720=) rs377168964 0.00007
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.14759A>T (p.Asn4920Ile) rs753968560 0.00006
NM_001164508.2(NEB):c.16983C>T (p.Leu5661=) rs377481097 0.00006
NM_001164508.2(NEB):c.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00006
NM_001164508.2(NEB):c.5247C>T (p.Tyr1749=) rs777520288 0.00006
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=) rs150496369 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.78+6G>A rs376085885 0.00006
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln) rs557950249 0.00006
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=) rs183764569 0.00006
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His) rs371605774 0.00005
NM_001164508.2(NEB):c.10653C>T (p.His3551=) rs369508429 0.00005
NM_001164508.2(NEB):c.10675C>T (p.Arg3559Cys) rs751938843 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.2819A>G (p.Tyr940Cys) rs369875205 0.00005
NM_001164508.2(NEB):c.8625A>G (p.Thr2875=) rs200386897 0.00005
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg) rs202035863 0.00005
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.13047C>T (p.Asp4349=) rs886038431 0.00004
NM_001164508.2(NEB):c.14877G>A (p.Leu4959=) rs1344795946 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.18471+20A>G rs202133044 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.255C>T (p.Tyr85=) rs375749306 0.00004
NM_001164508.2(NEB):c.4434C>T (p.Thr1478=) rs747503023 0.00004
NM_001164508.2(NEB):c.5073C>T (p.Ile1691=) rs190322907 0.00004
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr) rs990382620 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001164508.2(NEB):c.11806-7C>A rs779713133 0.00003
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449 0.00003
NM_001164508.2(NEB):c.12639+11C>T rs1057523954 0.00003
NM_001164508.2(NEB):c.1713A>G (p.Lys571=) rs753119399 0.00003
NM_001164508.2(NEB):c.17520G>A (p.Ala5840=) rs372786852 0.00003
NM_001164508.2(NEB):c.17574G>A (p.Thr5858=) rs780714195 0.00003
NM_001164508.2(NEB):c.18892-19T>C rs777342340 0.00003
NM_001164508.2(NEB):c.19101+4C>T rs778716460 0.00003
NM_001164508.2(NEB):c.340G>A (p.Ala114Thr) rs779928749 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.9619-14A>G rs374444328 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.11457G>A (p.Val3819=) rs780152095 0.00002
NM_001164508.2(NEB):c.18157-20A>G rs747415022 0.00002
NM_001164508.2(NEB):c.20342G>A (p.Arg6781His) rs752285938 0.00002
NM_001164508.2(NEB):c.21208-11G>A rs1057522156 0.00002
NM_001164508.2(NEB):c.4528G>A (p.Glu1510Lys) rs370064863 0.00002
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679 0.00002
NM_001164508.2(NEB):c.5763+27G>A rs373166434 0.00002
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val) rs200481156 0.00002
NM_001164508.2(NEB):c.9330T>C (p.Tyr3110=) rs770174001 0.00002
NM_001164508.2(NEB):c.9619-20C>T rs778867943 0.00002
NM_001164508.2(NEB):c.-24A>G rs1438185722 0.00001
NM_001164508.2(NEB):c.10418T>A (p.Met3473Lys) rs1199616055 0.00001
NM_001164508.2(NEB):c.10420T>C (p.Leu3474=) rs1057523427 0.00001
NM_001164508.2(NEB):c.1056T>C (p.Tyr352=) rs1057523282 0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=) rs547109690 0.00001
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644 0.00001
NM_001164508.2(NEB):c.1258A>G (p.Lys420Glu) rs200298261 0.00001
NM_001164508.2(NEB):c.1470C>T (p.Asp490=) rs778189876 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.16189C>T (p.Arg5397Cys) rs973719257 0.00001
NM_001164508.2(NEB):c.17013+13A>G rs547891086 0.00001
NM_001164508.2(NEB):c.17179A>G (p.Arg5727Gly) rs1165026867 0.00001
NM_001164508.2(NEB):c.17634+5G>A rs749700121 0.00001
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp) rs769673154 0.00001
NM_001164508.2(NEB):c.1803T>C (p.Tyr601=) rs775413813 0.00001
NM_001164508.2(NEB):c.18366+15T>G rs377385674 0.00001
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685 0.00001
NM_001164508.2(NEB):c.20113G>A (p.Val6705Ile) rs774095156 0.00001
NM_001164508.2(NEB):c.2053A>G (p.Met685Val) rs370986655 0.00001
NM_001164508.2(NEB):c.20998-7A>C rs1408680616 0.00001
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu) rs780299519 0.00001
NM_001164508.2(NEB):c.3043-16T>A rs767501380 0.00001
NM_001164508.2(NEB):c.3147+18C>T rs369903833 0.00001
NM_001164508.2(NEB):c.3373G>C (p.Glu1125Gln) rs757784515 0.00001
NM_001164508.2(NEB):c.3775-18A>G rs777446803 0.00001
NM_001164508.2(NEB):c.3988-15A>G rs1159293402 0.00001
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr) rs1219059740 0.00001
NM_001164508.2(NEB):c.4299+9G>A rs746505680 0.00001
NM_001164508.2(NEB):c.4596C>T (p.Ala1532=) rs1258108366 0.00001
NM_001164508.2(NEB):c.5049C>G (p.Asp1683Glu) rs777670525 0.00001
NM_001164508.2(NEB):c.6318T>C (p.Tyr2106=) rs766947078 0.00001
NM_001164508.2(NEB):c.6478A>T (p.Asn2160Tyr) rs2099084057 0.00001
NM_001164508.2(NEB):c.6559C>T (p.Leu2187=) rs369413888 0.00001
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192 0.00001
NM_001164508.2(NEB):c.8266-20A>C rs1241056840 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.8447A>G (p.Lys2816Arg) rs1176964266 0.00001
NM_001164508.2(NEB):c.8791A>G (p.Lys2931Glu) rs1049915348 0.00001
NM_001164508.2(NEB):c.9483G>A (p.Val3161=) rs1369814853 0.00001
NM_001164508.2(NEB):c.9723+7G>A rs557480322 0.00001
NM_001164508.2(NEB):c.-113-4del rs962563454
NM_001164508.2(NEB):c.10047C>T (p.Ser3349=) rs763268909
NM_001164508.2(NEB):c.10175G>A (p.Arg3392Lys) rs2154058460
NM_001164508.2(NEB):c.1051G>A (p.Asp351Asn) rs2149873825
NM_001164508.2(NEB):c.10560+10G>A rs1553915713
NM_001164508.2(NEB):c.10775G>A (p.Ser3592Asn) rs2154022323
NM_001164508.2(NEB):c.10872+27A>C rs10186656
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala) rs879255369
NM_001164508.2(NEB):c.11043G>A (p.Val3681=) rs886038428
NM_001164508.2(NEB):c.11077-20dup rs749915004
NM_001164508.2(NEB):c.11077-35CT[9] rs369065019
NM_001164508.2(NEB):c.11077-5del rs749915004
NM_001164508.2(NEB):c.11326C>G (p.His3776Asp) rs770398302
NM_001164508.2(NEB):c.11601+6T>A
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro) rs1131691534
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001164508.2(NEB):c.11870A>G (p.Asp3957Gly) rs766565558
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001164508.2(NEB):c.12954C>G (p.Val4318=) rs1553871881
NM_001164508.2(NEB):c.12970G>A (p.Asp4324Asn) rs1057523936
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.13264-18G>A rs886038432
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13368+11A>G rs112260335
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13376A>G (p.Tyr4459Cys) rs1057521523
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001164508.2(NEB):c.13476+16_13476+17insG rs1064794509
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001164508.2(NEB):c.13477-9A>G rs1553862786
NM_001164508.2(NEB):c.13573T>C (p.Leu4525=) rs1057523201
NM_001164508.2(NEB):c.13583A>C (p.Gln4528Pro) rs1553862590
NM_001164508.2(NEB):c.13596G>A (p.Leu4532=) rs886038436
NM_001164508.2(NEB):c.13598A>T (p.Tyr4533Phe) rs886038437
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001164508.2(NEB):c.1366-12T>G rs1057523429
NM_001164508.2(NEB):c.1366-4A>G rs886038438
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001164508.2(NEB):c.13748A>T (p.Asp4583Val) rs1553862170
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001164508.2(NEB):c.13819C>T (p.Arg4607Cys) rs1553861868
NM_001164508.2(NEB):c.13941C>T (p.Val4647=) rs886038441
NM_001164508.2(NEB):c.14015A>G (p.Asn4672Ser) rs1553861662
NM_001164508.2(NEB):c.14081C>A (p.Ala4694Asp) rs1553861610
NM_001164508.2(NEB):c.14097+11C>T rs1553861597
NM_001164508.2(NEB):c.14098-10C>T rs1057522300
NM_001164508.2(NEB):c.14144A>G (p.Asp4715Gly) rs1553861549
NM_001164508.2(NEB):c.14353G>A (p.Gly4785Arg) rs1057521449
NM_001164508.2(NEB):c.14597A>G (p.Lys4866Arg) rs1057522768
NM_001164508.2(NEB):c.14633G>A (p.Arg4878His) rs886038442
NM_001164508.2(NEB):c.14734A>G (p.Asn4912Asp) rs10909569
NM_001164508.2(NEB):c.14785C>T (p.Leu4929=) rs554231162
NM_001164508.2(NEB):c.14834A>G (p.Tyr4945Cys) rs1057521524
NM_001164508.2(NEB):c.14934T>C (p.Asp4978=) rs886038443
NM_001164508.2(NEB):c.14938C>G (p.Leu4980Val) rs1057523623
NM_001164508.2(NEB):c.15031T>C (p.Leu5011=) rs1057523202
NM_001164508.2(NEB):c.15086A>C (p.Lys5029Thr) rs200053313
NM_001164508.2(NEB):c.15106A>G (p.Met5036Val) rs1553847933
NM_001164508.2(NEB):c.15138G>C (p.Gln5046His) rs1057521439
NM_001164508.2(NEB):c.15163C>T (p.Arg5055Cys) rs1553847904
NM_001164508.2(NEB):c.15179A>G (p.His5060Arg) rs886038444
NM_001164508.2(NEB):c.15246+12C>G rs886038445
NM_001164508.2(NEB):c.15277C>T (p.Arg5093Cys) rs1553847687
NM_001164508.2(NEB):c.15387C>T (p.Phe5129=) rs1057521909
NM_001164508.2(NEB):c.15399C>T (p.Val5133=) rs1057521914
NM_001164508.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001164508.2(NEB):c.15456G>C (p.Leu5152=) rs1057522735
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.15513G>A (p.Pro5171=) rs1057523028
NM_001164508.2(NEB):c.15539C>A (p.Ala5180Asp) rs1553847450
NM_001164508.2(NEB):c.15555+11C>T rs1057523905
NM_001164508.2(NEB):c.15602A>G (p.Asp5201Gly) rs1057521567
NM_001164508.2(NEB):c.15728A>G (p.Asp5243Gly) rs1553846139
NM_001164508.2(NEB):c.16090C>T (p.Arg5364Cys) rs1057521915
NM_001164508.2(NEB):c.16392+16_16392+17insG rs1064794175
NM_001164508.2(NEB):c.16392C>T (p.Asp5464=) rs886038446
NM_001164508.2(NEB):c.16488G>T (p.Val5496=) rs1553836754
NM_001164508.2(NEB):c.16654G>C (p.Asp5552His) rs1057523613
NM_001164508.2(NEB):c.1675-13_1675-11delinsA rs1553601860
NM_001164508.2(NEB):c.1675-8_1675-7del rs749876066
NM_001164508.2(NEB):c.16910_16911inv (p.Pro5637Leu)
NM_001164508.2(NEB):c.17371T>C (p.Cys5791Arg) rs1553788021
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.1782+4_1782+5del rs398124168
NM_001164508.2(NEB):c.17827A>G (p.Asn5943Asp) rs1380251124
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18693+4A>C
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
NM_001164508.2(NEB):c.18820C>T (p.His6274Tyr) rs2153711522
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001164508.2(NEB):c.19207-20_19207-18del rs768751352
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001164508.2(NEB):c.19398G>A (p.Arg6466=) rs867834427
NM_001164508.2(NEB):c.19428+16C>T rs1022784479
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr) rs190605644
NM_001164508.2(NEB):c.19967G>C (p.Arg6656Pro) rs767200761
NM_001164508.2(NEB):c.20157+5C>T
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20467-4del rs10687343
NM_001164508.2(NEB):c.20467-5_20467-4dup rs10687343
NM_001164508.2(NEB):c.20467-5_20467-4insA rs864309576
NM_001164508.2(NEB):c.20467-6_20467-4dup rs10687343
NM_001164508.2(NEB):c.2106+11del rs1064794944
NM_001164508.2(NEB):c.2310+9T>A rs779165221
NM_001164508.2(NEB):c.2523+10_2523+17del rs1553564544
NM_001164508.2(NEB):c.2529G>A (p.Met843Ile) rs1488992428
NM_001164508.2(NEB):c.2781C>G (p.Pro927=) rs745481666
NM_001164508.2(NEB):c.295-19T>C rs1012626849
NM_001164508.2(NEB):c.3043-17A>G rs1553540138
NM_001164508.2(NEB):c.3043-37_3043-33del rs553020641
NM_001164508.2(NEB):c.3567+13T>C rs886038451
NM_001164508.2(NEB):c.36+4A>G
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg) rs765671775
NM_001164508.2(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.4396G>A (p.Ala1466Thr) rs2099279944
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val) rs74482326
NM_001164508.2(NEB):c.5246A>G (p.Tyr1749Cys)
NM_001164508.2(NEB):c.5376G>A (p.Lys1792=) rs886038453
NM_001164508.2(NEB):c.5595C>T (p.Ser1865=) rs1553485337
NM_001164508.2(NEB):c.5849A>C (p.Lys1950Thr) rs758655350
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001164508.2(NEB):c.6172A>T (p.Ile2058Phe) rs543827269
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn) rs2099075647
NM_001164508.2(NEB):c.6900A>G (p.Arg2300=) rs1553457085
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala) rs1558825869
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
NM_001164508.2(NEB):c.7851C>A (p.Thr2617=) rs1553982484
NM_001164508.2(NEB):c.8064T>C (p.His2688=) rs1057523363
NM_001164508.2(NEB):c.822+13A>G rs1057523586
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001164508.2(NEB):c.8994+5G>A
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn) rs2099741678
NM_001164508.2(NEB):c.9044T>C (p.Leu3015Ser) rs573822094
NM_001164508.2(NEB):c.928-10T>C rs886038454
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001164508.2(NEB):c.9724-5C>T rs1553934604

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