ClinVar Miner

List of variants in gene NEB studied for not provided

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Gene type:
ClinVar version:
Total variants: 1270
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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.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.9363T>C (p.Pro3121=) rs6709886 0.62301
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.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.11077-19T>C rs4303716 0.21438
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001164508.2(NEB):c.3901= (p.Tyr1301=) rs6711382 0.18897
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
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.16450G>A (p.Ala5484Thr) rs536508687 0.08083
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_001164508.2(NEB):c.16284+11A>G rs367881797 0.03368
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.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.571G>C (p.Glu191Gln) rs35686968 0.01624
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.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
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.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
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.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.16670T>C (p.Ile5557Thr) rs200703673 0.00584
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.1981C>T (p.Leu661=) rs146460133 0.00395
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
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.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.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.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_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_001164508.2(NEB):c.14807A>G (p.Asn4936Ser) rs139930220 0.00289
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=) rs146294986 0.00286
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.19944+3G>A rs115142419 0.00250
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993 0.00238
NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889 0.00237
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.675G>A (p.Pro225=) rs138528093 0.00225
NM_001164508.2(NEB):c.13779A>G (p.Leu4593=) rs1057522591 0.00209
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.18579+6T>C rs116189169 0.00180
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.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=) rs187211085 0.00156
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His) rs35555631 0.00156
NM_001164508.2(NEB):c.19836+10C>G rs148814261 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.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.19665T>C (p.Ile6555=) rs150842230 0.00138
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
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.4463T>C (p.Met1488Thr) rs201545521 0.00131
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.8202C>T (p.Val2734=) rs144595998 0.00117
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649 0.00114
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692 0.00111
NM_001164508.2(NEB):c.16569G>A (p.Val5523=) rs764449277 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_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512 0.00107
NM_001164508.2(NEB):c.6808-11T>C rs199804593 0.00106
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_001164508.2(NEB):c.18262-13C>T rs374553944 0.00102
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_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His) rs201111610 0.00092
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.9052G>A (p.Asp3018Asn) rs192098032 0.00081
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960 0.00079
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316 0.00078
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
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.20128G>A (p.Val6710Ile) rs199890298 0.00069
NM_001164508.2(NEB):c.2416-6G>T rs185433570 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.217C>T (p.Arg73Trp) rs77994592 0.00065
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00063
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00061
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=) rs186244044 0.00058
NM_001164508.2(NEB):c.14869T>A (p.Tyr4957Asn) rs756192566 0.00055
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys) rs755875238 0.00054
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
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.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095 0.00049
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
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.12905A>T (p.Asn4302Ile) rs886038429 0.00046
NM_001164508.2(NEB):c.1974T>C (p.Asp658=) rs199528953 0.00046
NM_001164508.2(NEB):c.11067C>T (p.Asn3689=) rs200427401 0.00044
NM_001164508.2(NEB):c.18891+17G>A rs376129412 0.00044
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
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_001164508.2(NEB):c.13175G>A (p.Arg4392His) rs772352938 0.00038
NM_001164508.2(NEB):c.4299+7A>G rs373926259 0.00038
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882 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.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=) rs35946547 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_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.6704A>C (p.His2235Pro) rs372800812 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001164508.2(NEB):c.12597G>A (p.Pro4199=) rs763783436 0.00030
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.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001164508.2(NEB):c.15827C>T (p.Pro5276Leu) rs1057521772 0.00028
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.12966C>T (p.Asp4322=) rs1334385911 0.00026
NM_001164508.2(NEB):c.2049C>G (p.Gly683=) rs372609682 0.00026
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462 0.00026
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=) rs376199241 0.00025
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu) rs370206339 0.00025
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050 0.00025
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_001164508.2(NEB):c.12718G>A (p.Ala4240Thr) rs561736266 0.00022
NM_001164508.2(NEB):c.17845-5G>A rs373390654 0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001164508.2(NEB):c.4398A>G (p.Ala1466=) rs368136951 0.00022
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206 0.00021
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=) rs144673752 0.00020
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794 0.00019
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg) rs189912759 0.00019
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114 0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met) rs377375638 0.00019
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787 0.00018
NM_001164508.2(NEB):c.17061C>G (p.Val5687=) rs199756204 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641 0.00018
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452 0.00018
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001164508.2(NEB):c.20355C>T (p.Asp6785=) rs140323673 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.7778T>C (p.Phe2593Ser) rs370615288 0.00017
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val) rs375646776 0.00016
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys) rs765806782 0.00016
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988 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_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 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.1544A>G (p.Gln515Arg) rs368150737 0.00014
NM_001164508.2(NEB):c.16269C>T (p.Ala5423=) rs542916866 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.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.1119G>A (p.Arg373=) rs200914626 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001164508.2(NEB):c.6491G>A (p.Ser2164Asn) rs780626863 0.00013
NM_001164508.2(NEB):c.8799T>C (p.Tyr2933=) rs375997049 0.00013
NM_001164508.2(NEB):c.9195C>T (p.His3065=) rs374734631 0.00013
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys) rs200462308 0.00012
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.15715C>T (p.Arg5239Cys) rs1346076883 0.00012
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449 0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln) rs372804439 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.853A>G (p.Ile285Val) rs773114380 0.00012
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys) rs368965372 0.00012
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609 0.00011
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341 0.00011
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936 0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683 0.00011
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His) rs200195063 0.00011
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 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.2773A>G (p.Ser925Gly) rs928041091 0.00011
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974 0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016 0.00011
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His) rs111841612 0.00011
NM_001164508.2(NEB):c.9854G>A (p.Arg3285His) rs376932516 0.00011
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449 0.00010
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104 0.00010
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.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln) rs556624010 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg) rs373892420 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001164508.2(NEB):c.5967C>T (p.Asn1989=) rs371151246 0.00010
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=) rs540542570 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=) rs755883171 0.00010
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn) rs764110936 0.00010
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728 0.00010
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn) rs117636679 0.00009
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
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.11540C>A (p.Thr3847Asn) rs766876980 0.00009
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=) rs369429046 0.00009
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=) rs367638234 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.17581G>A (p.Asp5861Asn) rs375837416 0.00009
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile) rs370695020 0.00009
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln) rs575958060 0.00009
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=) rs200122580 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579 0.00009
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053 0.00009
NM_001164508.2(NEB):c.9345C>T (p.His3115=) rs367739638 0.00009
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305 0.00008
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr) rs577939684 0.00008
NM_001164508.2(NEB):c.16625A>G (p.His5542Arg) rs773955783 0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641 0.00008
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val) rs541672313 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001164508.2(NEB):c.3918G>A (p.Lys1306=) rs368682145 0.00008
NM_001164508.2(NEB):c.5724C>T (p.Ser1908=) rs370965998 0.00008
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn) rs375811851 0.00008
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile) rs375830667 0.00007
NM_001164508.2(NEB):c.105G>A (p.Thr35=) rs368075131 0.00007
NM_001164508.2(NEB):c.10960G>A (p.Gly3654Arg) rs754341838 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.16875C>T (p.Val5625=) rs757882235 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 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_001164508.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067 0.00007
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His) rs373778424 0.00007
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120 0.00007
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025 0.00006
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=) rs375814899 0.00006
NM_001164508.2(NEB):c.11199T>C (p.Ala3733=) rs756871030 0.00006
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086 0.00006
NM_001164508.2(NEB):c.1152C>T (p.Asp384=) rs767328072 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.11850C>T (p.His3950=) rs777244382 0.00006
NM_001164508.2(NEB):c.17519C>T (p.Ala5840Val) rs539856643 0.00006
NM_001164508.2(NEB):c.18694-7A>T rs373371474 0.00006
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566 0.00006
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg) rs757621444 0.00006
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651 0.00006
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) rs775553284 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His) rs773584363 0.00006
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala) rs754959175 0.00006
NM_001164508.2(NEB):c.2354A>G (p.His785Arg) rs370296542 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr) rs756135837 0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00006
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=) rs150496369 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.6368C>T (p.Thr2123Met) rs371109129 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr) rs370738668 0.00006
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=) rs751747575 0.00006
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys) rs758363933 0.00006
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys) rs374359052 0.00005
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu) rs573693040 0.00005
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His) rs550715282 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587 0.00005
NM_001164508.2(NEB):c.11612A>G (p.Lys3871Arg) rs761955993 0.00005
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His) rs373850451 0.00005
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle) rs765184893 0.00005
NM_001164508.2(NEB):c.18694-3T>C rs370200484 0.00005
NM_001164508.2(NEB):c.19315-4A>G rs778306769 0.00005
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528 0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr) rs753428817 0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453 0.00005
NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val) rs761956085 0.00005
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg) rs200813844 0.00005
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His) rs752349680 0.00005
NM_001164508.2(NEB):c.7246C>G (p.Leu2416Val) rs747337656 0.00005
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.9388C>T (p.Arg3130Trp) rs779778326 0.00005
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739 0.00005
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=) rs768708852 0.00004
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys) rs374471394 0.00004
NM_001164508.2(NEB):c.14228G>A (p.Arg4743His) rs527746468 0.00004
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701 0.00004
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162 0.00004
NM_001164508.2(NEB):c.17113A>G (p.Ser5705Gly) rs777639198 0.00004
NM_001164508.2(NEB):c.17496C>T (p.Ser5832=) rs746291431 0.00004
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154 0.00004
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939 0.00004
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser) rs755153044 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00004
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro) rs767873861 0.00004
NM_001164508.2(NEB):c.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.218G>A (p.Arg73Gln) rs727504037 0.00004
NM_001164508.2(NEB):c.2657A>C (p.Tyr886Ser) rs371105660 0.00004
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.3923A>G (p.Asn1308Ser) rs777962427 0.00004
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His) rs377054979 0.00004
NM_001164508.2(NEB):c.4127A>G (p.Asn1376Ser) rs1309733626 0.00004
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.5161G>A (p.Glu1721Lys) rs750732565 0.00004
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=) rs769446481 0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val) rs752744680 0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350 0.00004
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala) rs764064217 0.00004
NM_001164508.2(NEB):c.6075+3A>C rs986325764 0.00004
NM_001164508.2(NEB):c.6248A>G (p.Asp2083Gly) rs368626849 0.00004
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=) rs376535906 0.00004
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057 0.00004
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met) rs905660353 0.00004
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe) rs372248515 0.00004
NM_001164508.2(NEB):c.8265+3A>T rs374475460 0.00004
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr) rs990382620 0.00004
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn) rs767512294 0.00004
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn) rs779416595 0.00004
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu) rs780293943 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773 0.00003
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034 0.00003
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His) rs376558062 0.00003
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln) rs774454536 0.00003
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107 0.00003
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val) rs370161504 0.00003
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr) rs201614105 0.00003
NM_001164508.2(NEB):c.11033C>T (p.Pro3678Leu) rs752318455 0.00003
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717 0.00003
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr) rs750705899 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.15975+4C>T rs2097157524 0.00003
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744 0.00003
NM_001164508.2(NEB):c.17024G>T (p.Arg5675Leu) rs373850451 0.00003
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015 0.00003
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg) rs200501968 0.00003
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 0.00003
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177 0.00003
NM_001164508.2(NEB):c.17922G>T (p.Leu5974=) rs1327308371 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn) rs768390701 0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His) rs185999504 0.00003
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met) rs553079055 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val) rs370764959 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.20847G>A (p.Thr6949=) rs759425229 0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His) rs781020561 0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592 0.00003
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 0.00003
NM_001164508.2(NEB):c.448G>A (p.Val150Ile) rs376288418 0.00003
NM_001164508.2(NEB):c.4835G>A (p.Arg1612His) rs534531948 0.00003
NM_001164508.2(NEB):c.5149C>T (p.Arg1717Cys) rs769725005 0.00003
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro) rs531692437 0.00003
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val) rs200649387 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.6135T>C (p.Asp2045=) rs886042654 0.00003
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys) rs372667149 0.00003
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179 0.00003
NM_001164508.2(NEB):c.6415C>G (p.His2139Asp) rs886044641 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.6613C>T (p.Arg2205Cys) rs577410545 0.00003
NM_001164508.2(NEB):c.6631T>C (p.Phe2211Leu) rs369374856 0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384 0.00003
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp) rs368148074 0.00003
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn) rs267598926 0.00003
NM_001164508.2(NEB):c.7917T>C (p.Asp2639=) rs745410848 0.00003
NM_001164508.2(NEB):c.8733G>A (p.Val2911=) rs1332714141 0.00003
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp) rs375216659 0.00003
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn) rs780275367 0.00003
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=) rs368230090 0.00002
NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg) rs1284970605 0.00002
NM_001164508.2(NEB):c.12278C>T (p.Pro4093Leu) rs749270501 0.00002
NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro) rs1057523555 0.00002
NM_001164508.2(NEB):c.1512A>T (p.Gln504His) rs774485087 0.00002
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys) rs762876022 0.00002
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu) rs759755890 0.00002
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn) rs374867405 0.00002
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg) rs369065324 0.00002
NM_001164508.2(NEB):c.17274C>T (p.Ile5758=) rs372754098 0.00002
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile) rs752014573 0.00002
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn) rs765593110 0.00002
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597 0.00002
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726 0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007 0.00002
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225 0.00002
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln) rs375182306 0.00002
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629 0.00002
NM_001164508.2(NEB):c.20262+3G>A rs763862179 0.00002
NM_001164508.2(NEB):c.21266C>G (p.Ser7089Cys) rs774297352 0.00002
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys) rs371027084 0.00002
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880 0.00002
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val) rs752809792 0.00002
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn) rs779673816 0.00002
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=) rs763075598 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His) rs771495234 0.00002
NM_001164508.2(NEB):c.5704A>G (p.Met1902Val) rs746809883 0.00002
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=) rs374717947 0.00002
NM_001164508.2(NEB):c.6687A>G (p.Ala2229=) rs747606446 0.00002
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp) rs1204576083 0.00002
NM_001164508.2(NEB):c.734G>T (p.Gly245Val) rs765569689 0.00002
NM_001164508.2(NEB):c.8328C>T (p.Ala2776=) rs373449008 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_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.9480T>C (p.Asp3160=) rs1475280445 0.00002
NM_001164508.2(NEB):c.9539C>T (p.Pro3180Leu) rs764372069 0.00002
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955 0.00002
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr) rs186634689 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg) rs372053480 0.00001
NM_001164508.2(NEB):c.10418T>A (p.Met3473Lys) rs1199616055 0.00001
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu) rs377027708 0.00001
NM_001164508.2(NEB):c.10993C>T (p.Arg3665Cys) rs766254214 0.00001
NM_001164508.2(NEB):c.11023A>G (p.Thr3675Ala) rs771318349 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644 0.00001
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg) rs761139484 0.00001
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter) rs377182240 0.00001
NM_001164508.2(NEB):c.11762C>T (p.Pro3921Leu) rs371675358 0.00001
NM_001164508.2(NEB):c.11777C>G (p.Ala3926Gly) rs754671742 0.00001
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127 0.00001
NM_001164508.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558 0.00001
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr) rs557283717 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 0.00001
NM_001164508.2(NEB):c.12330T>C (p.Asp4110=) rs981354598 0.00001
NM_001164508.2(NEB):c.1258A>G (p.Lys420Glu) rs200298261 0.00001
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val) rs959840049 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.1365+5G>T rs1553607969 0.00001
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val) rs772070576 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.1478A>G (p.Tyr493Cys) rs1576674181 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val) rs761807814 0.00001
NM_001164508.2(NEB):c.16824G>C (p.Thr5608=) rs531949723 0.00001
NM_001164508.2(NEB):c.16948A>G (p.Ile5650Val) rs1386459733 0.00001
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.17229T>C (p.Asn5743=) rs1304618869 0.00001
NM_001164508.2(NEB):c.17262G>A (p.Trp5754Ter) rs1057518200 0.00001
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077 0.00001
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr) rs780600292 0.00001
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178 0.00001
NM_001164508.2(NEB):c.17536-17T>C rs775687645 0.00001
NM_001164508.2(NEB):c.17545C>T (p.Arg5849Cys) rs771214344 0.00001
NM_001164508.2(NEB):c.17606C>T (p.Ala5869Val) rs79205344 0.00001
NM_001164508.2(NEB):c.17634+5G>A rs749700121 0.00001
NM_001164508.2(NEB):c.17878G>T (p.Gly5960Cys) rs1055815976 0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207 0.00001
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060 0.00001
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg) rs1166853973 0.00001
NM_001164508.2(NEB):c.18580-8C>T rs199894970 0.00001
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met) rs781706876 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19012G>A (p.Ala6338Thr) rs759946299 0.00001
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg) rs1015281617 0.00001
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp) rs746394316 0.00001
NM_001164508.2(NEB):c.19363C>T (p.Pro6455Ser) rs377112785 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 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.20332A>G (p.Ile6778Val) rs753409626 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123 0.00001
NM_001164508.2(NEB):c.20831C>T (p.Thr6944Ile) rs763942330 0.00001
NM_001164508.2(NEB):c.20939C>T (p.Thr6980Met) rs776806977 0.00001
NM_001164508.2(NEB):c.21312+8T>A rs756535543 0.00001
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile) rs749168085 0.00001
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu) rs780299519 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.2930A>G (p.Asp977Gly) rs1414304435 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.2979T>C (p.Phe993=) rs780408206 0.00001
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser) rs763910385 0.00001
NM_001164508.2(NEB):c.3260A>G (p.Gln1087Arg) rs753378097 0.00001
NM_001164508.2(NEB):c.3275A>C (p.Tyr1092Ser) rs771687432 0.00001
NM_001164508.2(NEB):c.3371G>A (p.Arg1124Gln) rs750762588 0.00001
NM_001164508.2(NEB):c.3519C>T (p.Asp1173=) rs376512820 0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330 0.00001
NM_001164508.2(NEB):c.3775-22T>C rs748941455 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.3995A>G (p.Tyr1332Cys) rs770929631 0.00001
NM_001164508.2(NEB):c.4060A>G (p.Lys1354Glu) rs371454282 0.00001
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln) rs747423578 0.00001
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn) rs534646949 0.00001
NM_001164508.2(NEB):c.422G>T (p.Gly141Val) rs973669056 0.00001
NM_001164508.2(NEB):c.4233T>G (p.His1411Gln) rs2099312487 0.00001
NM_001164508.2(NEB):c.4478C>T (p.Ala1493Val) rs772819515 0.00001
NM_001164508.2(NEB):c.453T>C (p.Asp151=) rs759482454 0.00001
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys) rs1257025966 0.00001
NM_001164508.2(NEB):c.4670A>G (p.Asp1557Gly) rs774802662 0.00001
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp) rs751602407 0.00001
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser) rs772492791 0.00001
NM_001164508.2(NEB):c.4877A>G (p.His1626Arg) rs1374856817 0.00001
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp) rs369533357 0.00001
NM_001164508.2(NEB):c.5218A>G (p.Asn1740Asp) rs762762498 0.00001
NM_001164508.2(NEB):c.533A>G (p.Asp178Gly) rs779306921 0.00001
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly) rs1466182533 0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355 0.00001
NM_001164508.2(NEB):c.6033C>T (p.Pro2011=) rs773482640 0.00001
NM_001164508.2(NEB):c.6276A>T (p.Gln2092His) rs2099085536 0.00001
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp) rs756398214 0.00001
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr) rs756130763 0.00001
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965 0.00001
NM_001164508.2(NEB):c.6523T>C (p.Trp2175Arg) rs1003397118 0.00001
NM_001164508.2(NEB):c.6565G>A (p.Val2189Met) rs1188389782 0.00001
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser) rs1369530664 0.00001
NM_001164508.2(NEB):c.6664A>G (p.Met2222Val) rs201167928 0.00001
NM_001164508.2(NEB):c.6775C>A (p.Gln2259Lys) rs773605767 0.00001
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192 0.00001
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667 0.00001
NM_001164508.2(NEB):c.7123T>C (p.Leu2375=) rs373895191 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001164508.2(NEB):c.7351C>T (p.Pro2451Ser) rs1443692678 0.00001
NM_001164508.2(NEB):c.7378C>T (p.Pro2460Ser) rs1360504212 0.00001
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr) rs571451076 0.00001
NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser) rs776901478 0.00001
NM_001164508.2(NEB):c.7547G>A (p.Arg2516Gln) rs753647278 0.00001
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln) rs758589097 0.00001
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.781G>C (p.Asp261His) rs1167204757 0.00001
NM_001164508.2(NEB):c.8372A>C (p.Glu2791Ala) rs1414164577 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu) rs765207403 0.00001
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=) rs761257246 0.00001
NM_001164508.2(NEB):c.8942C>G (p.Pro2981Arg) rs1043986745 0.00001
NM_001164508.2(NEB):c.8A>G (p.Asp3Gly) rs1245236784 0.00001
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452 0.00001
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys) rs1335899216 0.00001
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile) rs755604172 0.00001
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283 0.00001
NM_001164508.2(NEB):c.966G>T (p.Gln322His) rs757803976 0.00001
GRCh37/hg19 2q23.3(chr2:152434811-152466339)x1
GRCh37/hg19 2q23.3(chr2:152439969-152440280)x0
NM_001164508.2(NEB):c.-128T>G rs771789347
NM_001164508.2(NEB):c.10041A>C (p.Leu3347Phe)
NM_001164508.2(NEB):c.10048G>C (p.Asp3350His)
NM_001164508.2(NEB):c.10117C>T (p.Arg3373Trp)
NM_001164508.2(NEB):c.10123G>A (p.Ala3375Thr)
NM_001164508.2(NEB):c.10175G>A (p.Arg3392Lys) rs2154058460
NM_001164508.2(NEB):c.10193C>T (p.Pro3398Leu)
NM_001164508.2(NEB):c.1022T>G (p.Val341Gly)
NM_001164508.2(NEB):c.10231_10233delinsACC (p.Ala3411Thr) rs2154058279
NM_001164508.2(NEB):c.10264C>A (p.Pro3422Thr)
NM_001164508.2(NEB):c.10265C>A (p.Pro3422His)
NM_001164508.2(NEB):c.10280A>C (p.Lys3427Thr)
NM_001164508.2(NEB):c.10280A>G (p.Lys3427Arg)
NM_001164508.2(NEB):c.10283T>A (p.Phe3428Tyr)
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val) rs768451216
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val) rs535926481
NM_001164508.2(NEB):c.10406C>T (p.Thr3469Ile)
NM_001164508.2(NEB):c.10492G>A (p.Gly3498Ser)
NM_001164508.2(NEB):c.10560+1G>A rs1553915731
NM_001164508.2(NEB):c.10564A>G (p.Lys3522Glu)
NM_001164508.2(NEB):c.10597CAC[3] (p.His3534dup) rs2154022798
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
NM_001164508.2(NEB):c.10657G>T (p.Ala3553Ser) rs1372803594
NM_001164508.2(NEB):c.10687A>G (p.Lys3563Glu)
NM_001164508.2(NEB):c.10777G>A (p.Asp3593Asn)
NM_001164508.2(NEB):c.10810A>G (p.Ile3604Val)
NM_001164508.2(NEB):c.10825C>G (p.Gln3609Glu)
NM_001164508.2(NEB):c.10872C>A (p.Asp3624Glu) rs781328083
NM_001164508.2(NEB):c.10969C>T (p.Leu3657Phe)
NM_001164508.2(NEB):c.10987C>T (p.Arg3663Cys)
NM_001164508.2(NEB):c.11024C>T (p.Thr3675Met)
NM_001164508.2(NEB):c.11060C>T (p.Ala3687Val)
NM_001164508.2(NEB):c.11070G>C (p.Met3690Ile)
NM_001164508.2(NEB):c.11077-20dup rs749915004
NM_001164508.2(NEB):c.11077-5del rs749915004
NM_001164508.2(NEB):c.11077-7_11077-5dup rs749915004
NM_001164508.2(NEB):c.11086A>G (p.Thr3696Ala)
NM_001164508.2(NEB):c.11184del (p.Lys3728fs) rs1553901624
NM_001164508.2(NEB):c.11221G>T (p.Gly3741Cys)
NM_001164508.2(NEB):c.11234G>A (p.Arg3745His)
NM_001164508.2(NEB):c.11248C>T (p.Pro3750Ser)
NM_001164508.2(NEB):c.11266G>C (p.Ala3756Pro) rs1232186045
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
NM_001164508.2(NEB):c.11423T>C (p.Phe3808Ser)
NM_001164508.2(NEB):c.11461A>T (p.Met3821Leu) rs1057524782
NM_001164508.2(NEB):c.11524C>T (p.Pro3842Ser)
NM_001164508.2(NEB):c.11585_11586insG (p.Tyr3862Ter) rs2153991581
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp) rs199766288
NM_001164508.2(NEB):c.11647G>A (p.Val3883Ile)
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly) rs2098007899
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.11825G>A (p.Trp3942Ter) rs1553887191
NM_001164508.2(NEB):c.11882C>T (p.Ala3961Val)
NM_001164508.2(NEB):c.11894C>G (p.Ser3965Cys)
NM_001164508.2(NEB):c.11948A>C (p.Lys3983Thr)
NM_001164508.2(NEB):c.11949G>T (p.Lys3983Asn)
NM_001164508.2(NEB):c.11958T>G (p.Asp3986Glu)
NM_001164508.2(NEB):c.11974A>T (p.Ile3992Phe)
NM_001164508.2(NEB):c.11982C>A (p.Ile3994=) rs780157705
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly) rs1188050770
NM_001164508.2(NEB):c.12098del (p.Met4033fs)
NM_001164508.2(NEB):c.12106A>G (p.Ile4036Val) rs2153972081
NM_001164508.2(NEB):c.12128G>C (p.Ser4043Thr)
NM_001164508.2(NEB):c.12190A>T (p.Met4064Leu)
NM_001164508.2(NEB):c.12221A>T (p.Gln4074Leu) rs1257852959
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs) rs1553883480
NM_001164508.2(NEB):c.12260A>G (p.His4087Arg) rs199683595
NM_001164508.2(NEB):c.12262G>T (p.Glu4088Ter) rs1356997734
NM_001164508.2(NEB):c.12300del (p.Ala4101fs)
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001164508.2(NEB):c.12405_12406del (p.Arg4135fs) rs1553877885
NM_001164508.2(NEB):c.12427G>A (p.Val4143Met)
NM_001164508.2(NEB):c.12447G>C (p.Arg4149Ser)
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.12497T>C (p.Val4166Ala) rs1579059166
NM_001164508.2(NEB):c.1250G>A (p.Ser417Asn)
NM_001164508.2(NEB):c.1250G>T (p.Ser417Ile)
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001164508.2(NEB):c.1266T>A (p.Tyr422Ter) rs2149360884
NM_001164508.2(NEB):c.12682T>A (p.Tyr4228Asn)
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001164508.2(NEB):c.12855G>A (p.Gln4285=) rs1578941195
NM_001164508.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001164508.2(NEB):c.12C>G (p.Asp4Glu) rs117178114
NM_001164508.2(NEB):c.13028A>C (p.Gln4343Pro)
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001164508.2(NEB):c.13107G>A (p.Leu4369=) rs1310978096
NM_001164508.2(NEB):c.13220C>G (p.Pro4407Arg)
NM_001164508.2(NEB):c.13230C>T (p.Ile4410=) rs1488837816
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001164508.2(NEB):c.13411T>A (p.Tyr4471Asn) rs1057521720
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn) rs1578802735
NM_001164508.2(NEB):c.13647C>G (p.Asp4549Glu) rs2153903057
NM_001164508.2(NEB):c.1366-4A>G rs886038438
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001164508.2(NEB):c.1370A>T (p.Asn457Ile)
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001164508.2(NEB):c.13788+18G>A rs1057523329
NM_001164508.2(NEB):c.13788+1G>A rs1553862061
NM_001164508.2(NEB):c.13820G>A (p.Arg4607His) rs1553861849
NM_001164508.2(NEB):c.13840G>A (p.Glu4614Lys) rs1553861834
NM_001164508.2(NEB):c.1387G>A (p.Glu463Lys)
NM_001164508.2(NEB):c.13941C>T (p.Val4647=) rs886038441
NM_001164508.2(NEB):c.13955T>C (p.Val4652Ala) rs1578797641
NM_001164508.2(NEB):c.13987A>T (p.Ser4663Cys) rs1057521768
NM_001164508.2(NEB):c.14049T>C (p.Asp4683=) rs1057521906
NM_001164508.2(NEB):c.14094C>T (p.Ser4698=) rs1578796157
NM_001164508.2(NEB):c.14323G>T (p.Glu4775Ter) rs1131691787
NM_001164508.2(NEB):c.14363A>T (p.Asn4788Ile) rs1279733088
NM_001164508.2(NEB):c.14370G>A (p.Pro4790=) rs747837704
NM_001164508.2(NEB):c.14422G>A (p.Asp4808Asn)
NM_001164508.2(NEB):c.14505C>T (p.Asp4835=)
NM_001164508.2(NEB):c.14514C>A (p.Ser4838Arg) rs1057522066
NM_001164508.2(NEB):c.14515G>A (p.Asp4839Asn)
NM_001164508.2(NEB):c.14563T>C (p.Leu4855=) rs2288217
NM_001164508.2(NEB):c.14605C>T (p.Gln4869Ter)
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
NM_001164508.2(NEB):c.14662A>G (p.Ser4888Gly) rs1553854474
NM_001164508.2(NEB):c.14747_14748del (p.Lys4916fs) rs2153875539
NM_001164508.2(NEB):c.14767G>A (p.Val4923Met)
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001164508.2(NEB):c.14986C>T (p.Arg4996Cys) rs1553848018
NM_001164508.2(NEB):c.14991C>T (p.Ser4997=) rs2153840996
NM_001164508.2(NEB):c.14992G>A (p.Ala4998Thr) rs1057520912
NM_001164508.2(NEB):c.15073G>A (p.Asp5025Asn) rs1578587703
NM_001164508.2(NEB):c.15086A>C (p.Lys5029Thr) rs200053313
NM_001164508.2(NEB):c.15105C>G (p.Asp5035Glu) rs1553847946
NM_001164508.2(NEB):c.15119G>A (p.Ser5040Asn) rs1578587235
NM_001164508.2(NEB):c.15179A>G (p.His5060Arg) rs886038444
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001164508.2(NEB):c.15246+18G>A rs1553847838
NM_001164508.2(NEB):c.15278G>A (p.Arg5093His) rs1553847671
NM_001164508.2(NEB):c.15298G>A (p.Glu5100Lys) rs1578582389
NM_001164508.2(NEB):c.15363G>C (p.Arg5121Ser) rs1553847636
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1]) rs757726895
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.15413T>C (p.Val5138Ala) rs1578581705
NM_001164508.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.15507T>C (p.Asp5169=) rs2153837860
NM_001164508.2(NEB):c.15512C>T (p.Pro5171Leu) rs1553847475
NM_001164508.2(NEB):c.15633C>G (p.His5211Gln) rs1560220725
NM_001164508.2(NEB):c.15674A>G (p.Lys5225Arg)
NM_001164508.2(NEB):c.15686G>A (p.Arg5229His) rs1269112104
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.1570T>A (p.Leu524Ile) rs1286428979
NM_001164508.2(NEB):c.15781G>T (p.Glu5261Ter) rs1391372707
NM_001164508.2(NEB):c.15882C>T (p.Asp5294=) rs1553845691
NM_001164508.2(NEB):c.15934G>A (p.Asp5312Asn) rs972580856
NM_001164508.2(NEB):c.16021T>G (p.Leu5341Val) rs796103760
NM_001164508.2(NEB):c.16032T>C (p.Gly5344=) rs2153836369
NM_001164508.2(NEB):c.16091G>A (p.Arg5364His) rs1181822886
NM_001164508.2(NEB):c.1610G>A (p.Cys537Tyr) rs935982815
NM_001164508.2(NEB):c.16190G>A (p.Arg5397His)
NM_001164508.2(NEB):c.16192G>C (p.Asp5398His)
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter) rs1064796311
NM_001164508.2(NEB):c.16286A>C (p.Lys5429Thr) rs2153832209
NM_001164508.2(NEB):c.16347C>T (p.Ala5449=) rs1578472035
NM_001164508.2(NEB):c.16382T>C (p.Ile5461Thr) rs1250825186
NM_001164508.2(NEB):c.16396C>G (p.Leu5466Val) rs1394442771
NM_001164508.2(NEB):c.16415A>G (p.Glu5472Gly)
NM_001164508.2(NEB):c.16444C>T (p.Arg5482Cys)
NM_001164508.2(NEB):c.16492A>C (p.Lys5498Gln)
NM_001164508.2(NEB):c.16521G>A (p.Lys5507=)
NM_001164508.2(NEB):c.16523C>T (p.Ala5508Val)
NM_001164508.2(NEB):c.16530C>T (p.Asn5510=)
NM_001164508.2(NEB):c.16550C>G (p.Ser5517Cys)
NM_001164508.2(NEB):c.16586AAG[1] (p.Glu5530del)
NM_001164508.2(NEB):c.16620T>A (p.Tyr5540Ter) rs886041998
NM_001164508.2(NEB):c.16621C>T (p.Arg5541Cys)
NM_001164508.2(NEB):c.16653C>T (p.Pro5551=)
NM_001164508.2(NEB):c.16663G>A (p.Asp5555Asn)
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.16721A>G (p.Asp5574Gly) rs2153808865
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe) rs2153808846
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr) rs749713442
NM_001164508.2(NEB):c.167C>A (p.Ala56Glu)
NM_001164508.2(NEB):c.16839dup (p.Lys5614Ter)
NM_001164508.2(NEB):c.16856T>C (p.Val5619Ala)
NM_001164508.2(NEB):c.16862C>T (p.Thr5621Ile)
NM_001164508.2(NEB):c.16924G>A (p.Val5642Ile)
NM_001164508.2(NEB):c.16946C>T (p.Ser5649Leu)
NM_001164508.2(NEB):c.16949T>C (p.Ile5650Thr) rs202009284
NM_001164508.2(NEB):c.1696G>A (p.Glu566Lys)
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr) rs2153806253
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
NM_001164508.2(NEB):c.17062C>T (p.Arg5688Trp)
NM_001164508.2(NEB):c.17119T>G (p.Tyr5707Asp)
NM_001164508.2(NEB):c.17174C>T (p.Thr5725Ile)
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu) rs371681892
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter) rs1427371913
NM_001164508.2(NEB):c.17235dup (p.Glu5746fs) rs1578009926
NM_001164508.2(NEB):c.1726A>G (p.Lys576Glu)
NM_001164508.2(NEB):c.17276A>G (p.Gln5759Arg)
NM_001164508.2(NEB):c.17430+6T>A rs916991200
NM_001164508.2(NEB):c.1748T>C (p.Leu583Pro) rs794727227
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs) rs886043631
NM_001164508.2(NEB):c.17546G>A (p.Arg5849His)
NM_001164508.2(NEB):c.17557_17558del (p.Glu5853fs) rs886044005
NM_001164508.2(NEB):c.17588G>C (p.Arg5863Thr) rs727504032
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.17651A>T (p.Asp5884Val)
NM_001164508.2(NEB):c.17675A>G (p.Tyr5892Cys)
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001164508.2(NEB):c.17686G>A (p.Glu5896Lys)
NM_001164508.2(NEB):c.17692C>T (p.Pro5898Ser)
NM_001164508.2(NEB):c.17694_17695insTTG (p.Leu5900_His5901insLeu)
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
NM_001164508.2(NEB):c.17749G>A (p.Glu5917Lys)
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
NM_001164508.2(NEB):c.1782+4_1782+5del rs398124168
NM_001164508.2(NEB):c.1783-5T>C rs2149258165
NM_001164508.2(NEB):c.17870A>C (p.Lys5957Thr)
NM_001164508.2(NEB):c.17874A>T (p.Gln5958His) rs2153740204
NM_001164508.2(NEB):c.178C>A (p.Pro60Thr)
NM_001164508.2(NEB):c.17975A>T (p.Asp5992Val)
NM_001164508.2(NEB):c.18002A>G (p.Asn6001Ser)
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) rs748358450
NM_001164508.2(NEB):c.18034G>A (p.Ala6012Thr)
NM_001164508.2(NEB):c.18048G>C (p.Gln6016His) rs1014679160
NM_001164508.2(NEB):c.18121A>T (p.Ile6041Phe) rs1334228700
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
NM_001164508.2(NEB):c.1822A>T (p.Met608Leu)
NM_001164508.2(NEB):c.1824G>C (p.Met608Ile)
NM_001164508.2(NEB):c.1824G>T (p.Met608Ile) rs756102340
NM_001164508.2(NEB):c.18304A>G (p.Arg6102Gly)
NM_001164508.2(NEB):c.18329T>C (p.Ile6110Thr)
NM_001164508.2(NEB):c.18529C>T (p.Arg6177Cys)
NM_001164508.2(NEB):c.18541A>G (p.Ile6181Val)
NM_001164508.2(NEB):c.18573C>G (p.Asn6191Lys)
NM_001164508.2(NEB):c.18579+4A>G
NM_001164508.2(NEB):c.1865A>G (p.His622Arg)
NM_001164508.2(NEB):c.18661C>T (p.His6221Tyr)
NM_001164508.2(NEB):c.18684G>A (p.Met6228Ile)
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His) rs921387109
NM_001164508.2(NEB):c.18825G>A (p.Gln6275=) rs1577662437
NM_001164508.2(NEB):c.18830_18831del (p.Thr6277fs) rs1553762626
NM_001164508.2(NEB):c.18841G>C (p.Glu6281Gln)
NM_001164508.2(NEB):c.18842A>G (p.Glu6281Gly) rs768965998
NM_001164508.2(NEB):c.18862_18872del (p.Val6288fs) rs886042141
NM_001164508.2(NEB):c.18870C>A (p.Asn6290Lys) rs200122580
NM_001164508.2(NEB):c.18871G>A (p.Ala6291Thr)
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001164508.2(NEB):c.18974A>G (p.Lys6325Arg)
NM_001164508.2(NEB):c.19064A>G (p.Tyr6355Cys) rs968608271
NM_001164508.2(NEB):c.19069A>G (p.Thr6357Ala)
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter) rs2153703181
NM_001164508.2(NEB):c.19102-3C>T
NM_001164508.2(NEB):c.19114G>A (p.Glu6372Lys)
NM_001164508.2(NEB):c.1924A>G (p.Thr642Ala)
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001164508.2(NEB):c.1928A>G (p.Lys643Arg)
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly) rs2153666324
NM_001164508.2(NEB):c.1934A>G (p.Lys645Arg)
NM_001164508.2(NEB):c.19358C>G (p.Thr6453Arg) rs370810654
NM_001164508.2(NEB):c.19371T>G (p.Ser6457Arg)
NM_001164508.2(NEB):c.19396C>T (p.Arg6466Trp)
NM_001164508.2(NEB):c.1941G>T (p.Met647Ile) rs759747841
NM_001164508.2(NEB):c.19723C>T (p.Arg6575Cys)
NM_001164508.2(NEB):c.19736A>G (p.Lys6579Arg)
NM_001164508.2(NEB):c.19753T>G (p.Leu6585Val)
NM_001164508.2(NEB):c.19810G>C (p.Val6604Leu) rs1577221319
NM_001164508.2(NEB):c.19857T>C (p.Tyr6619=) rs2153648002
NM_001164508.2(NEB):c.19901T>C (p.Val6634Ala) rs771989092
NM_001164508.2(NEB):c.19904A>C (p.Asp6635Ala)
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp) rs771483221
NM_001164508.2(NEB):c.19967G>T (p.Arg6656Leu)
NM_001164508.2(NEB):c.20011T>A (p.Phe6671Ile)
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro) rs763237724
NM_001164508.2(NEB):c.20022C>G (p.Ile6674Met)
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
NM_001164508.2(NEB):c.20154C>A (p.Ser6718Arg)
NM_001164508.2(NEB):c.20157+3A>G
NM_001164508.2(NEB):c.20185C>G (p.Leu6729Val)
NM_001164508.2(NEB):c.2023A>G (p.Lys675Glu) rs767593840
NM_001164508.2(NEB):c.20263-7dup rs763008896
NM_001164508.2(NEB):c.20296G>T (p.Gly6766Cys) rs886042143
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001164508.2(NEB):c.20324C>T (p.Pro6775Leu)
NM_001164508.2(NEB):c.2033del (p.Leu678fs)
NM_001164508.2(NEB):c.20360_20365delinsTCAGTA (p.Thr6787_Asp6789delinsIleSerAsn)
NM_001164508.2(NEB):c.20362A>G (p.Ser6788Gly)
NM_001164508.2(NEB):c.20365G>A (p.Asp6789Asn)
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
NM_001164508.2(NEB):c.20446C>G (p.Arg6816Gly) rs780644697
NM_001164508.2(NEB):c.20447G>A (p.Arg6816Gln)
NM_001164508.2(NEB):c.20455C>T (p.Arg6819Trp)
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
NM_001164508.2(NEB):c.20467-12_20467-4dup rs10687343
NM_001164508.2(NEB):c.20467-4del rs10687343
NM_001164508.2(NEB):c.20467-6_20467-4dup rs10687343
NM_001164508.2(NEB):c.20537A>C (p.Glu6846Ala)
NM_001164508.2(NEB):c.20537A>G (p.Glu6846Gly)
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001164508.2(NEB):c.20577+2dup rs2153603722
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs) rs1576517390
NM_001164508.2(NEB):c.20710G>A (p.Glu6904Lys)
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr) rs2093931355
NM_001164508.2(NEB):c.2075A>T (p.His692Leu)
NM_001164508.2(NEB):c.20765A>T (p.Asp6922Val) rs2093930817
NM_001164508.2(NEB):c.20795A>G (p.Tyr6932Cys)
NM_001164508.2(NEB):c.20805A>T (p.Gln6935His)
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val) rs1168345348
NM_001164508.2(NEB):c.20858del (p.Ile6953fs) rs1064794461
NM_001164508.2(NEB):c.20892T>G (p.Asp6964Glu) rs1553694845
NM_001164508.2(NEB):c.20900A>G (p.Tyr6967Cys)
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
NM_001164508.2(NEB):c.20998A>T (p.Ile7000Leu)
NM_001164508.2(NEB):c.21055C>T (p.Arg7019Cys)
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
NM_001164508.2(NEB):c.21070C>T (p.His7024Tyr) rs1232305282
NM_001164508.2(NEB):c.21094G>T (p.Val7032Phe)
NM_001164508.2(NEB):c.21157G>A (p.Asp7053Asn)
NM_001164508.2(NEB):c.21207+3A>G
NM_001164508.2(NEB):c.21221A>G (p.Glu7074Gly) rs1190090108
NM_001164508.2(NEB):c.21229G>A (p.Glu7077Lys) rs886042384
NM_001164508.2(NEB):c.21262G>A (p.Asp7088Asn)
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.2166A>C (p.Ile722=) rs886042140
NM_001164508.2(NEB):c.2177A>G (p.Tyr726Cys)
NM_001164508.2(NEB):c.2201A>C (p.Gln734Pro)
NM_001164508.2(NEB):c.2202G>C (p.Gln734His)
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.2218T>A (p.Tyr740Asn)
NM_001164508.2(NEB):c.2249C>A (p.Thr750Lys)
NM_001164508.2(NEB):c.2302C>A (p.Leu768Ile)
NM_001164508.2(NEB):c.2335G>A (p.Gly779Ser) rs1390236645
NM_001164508.2(NEB):c.2359C>A (p.Pro787Thr)
NM_001164508.2(NEB):c.2402A>G (p.Tyr801Cys)
NM_001164508.2(NEB):c.2415+1G>A rs1057524581
NM_001164508.2(NEB):c.2415+1G>T rs1057524581
NM_001164508.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001164508.2(NEB):c.2467A>G (p.Lys823Glu)
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val) rs2099513616
NM_001164508.2(NEB):c.2561A>C (p.Lys854Thr)
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
NM_001164508.2(NEB):c.2635G>A (p.Asp879Asn)
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
NM_001164508.2(NEB):c.2772C>A (p.Tyr924Ter) rs1466946196
NM_001164508.2(NEB):c.2782C>A (p.Pro928Thr)
NM_001164508.2(NEB):c.2782C>G (p.Pro928Ala)
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn)
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu) rs368642083
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.2953C>T (p.Arg985Cys)
NM_001164508.2(NEB):c.3011A>C (p.Gln1004Pro)
NM_001164508.2(NEB):c.307G>C (p.Glu103Gln)
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter) rs2099402392
NM_001164508.2(NEB):c.311A>C (p.Lys104Thr)
NM_001164508.2(NEB):c.3136A>T (p.Asn1046Tyr) rs200564629
NM_001164508.2(NEB):c.3175T>C (p.Leu1059=) rs1449746588
NM_001164508.2(NEB):c.3253G>A (p.Asp1085Asn) rs2099400725
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3282G>T (p.Lys1094Asn)
NM_001164508.2(NEB):c.328G>A (p.Gly110Arg) rs886043647
NM_001164508.2(NEB):c.3420C>A (p.Pro1140=)
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001164508.2(NEB):c.3461A>T (p.Asp1154Val) rs727504036
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) rs1463906422
NM_001164508.2(NEB):c.3488A>C (p.His1163Pro) rs199822924
NM_001164508.2(NEB):c.3515C>T (p.Pro1172Leu)
NM_001164508.2(NEB):c.3523A>G (p.Met1175Val)
NM_001164508.2(NEB):c.3589AAC[1] (p.Asn1198del) rs886042521
NM_001164508.2(NEB):c.36+1G>T rs1553711195
NM_001164508.2(NEB):c.3631C>G (p.Leu1211Val)
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
NM_001164508.2(NEB):c.368G>T (p.Arg123Leu)
NM_001164508.2(NEB):c.3726dup (p.Ser1243fs) rs2154209614
NM_001164508.2(NEB):c.3740T>A (p.Val1247Asp) rs753696014
NM_001164508.2(NEB):c.3774+4A>C rs1026503983
NM_001164508.2(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001164508.2(NEB):c.37T>C (p.Tyr13His)
NM_001164508.2(NEB):c.3817A>G (p.Thr1273Ala)
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3884G>A (p.Cys1295Tyr) rs2154198219
NM_001164508.2(NEB):c.3889A>G (p.Lys1297Glu)
NM_001164508.2(NEB):c.3911T>A (p.Ile1304Lys)
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3988-2_3988-1delinsTATA rs1553517142
NM_001164508.2(NEB):c.4018A>C (p.Lys1340Gln) rs398124171
NM_001164508.2(NEB):c.4121A>G (p.Tyr1374Cys)
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr) rs760822809
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
NM_001164508.2(NEB):c.4186G>T (p.Ala1396Ser)
NM_001164508.2(NEB):c.4208_4209delinsAA (p.Val1403Glu)
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln) rs2099312411
NM_001164508.2(NEB):c.4252G>A (p.Ala1418Thr) rs1444597977
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.426T>C (p.Asp142=) rs200590080
NM_001164508.2(NEB):c.4384A>G (p.Lys1462Glu)
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter) rs2099279723
NM_001164508.2(NEB):c.4464G>C (p.Met1488Ile) rs368215104
NM_001164508.2(NEB):c.4506T>G (p.Asp1502Glu)
NM_001164508.2(NEB):c.4507-2A>G rs1575668113
NM_001164508.2(NEB):c.4549_4553del (p.Tyr1516_Thr1517insTer) rs2154185721
NM_001164508.2(NEB):c.4557C>A (p.Asp1519Glu)
NM_001164508.2(NEB):c.4564T>C (p.Leu1522=)
NM_001164508.2(NEB):c.4602del (p.Asn1534fs) rs2154185591
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
NM_001164508.2(NEB):c.4720-2A>G rs1057518353
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val) rs751602407
NM_001164508.2(NEB):c.4927G>A (p.Val1643Ile)
NM_001164508.2(NEB):c.492G>T (p.Ser164=) rs371015050
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.5032-13dup rs148862132
NM_001164508.2(NEB):c.5032A>C (p.Asn1678His)
NM_001164508.2(NEB):c.5075del (p.Gly1692fs) rs2154177314
NM_001164508.2(NEB):c.5086A>G (p.Ile1696Val)
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001164508.2(NEB):c.5194A>G (p.Met1732Val)
NM_001164508.2(NEB):c.520C>T (p.Gln174Ter) rs2150732849
NM_001164508.2(NEB):c.5262C>A (p.Asn1754Lys)
NM_001164508.2(NEB):c.529G>A (p.Glu177Lys) rs1403433350
NM_001164508.2(NEB):c.5315C>T (p.Ser1772Phe)
NM_001164508.2(NEB):c.5552A>G (p.Lys1851Arg)
NM_001164508.2(NEB):c.5622C>T (p.Asp1874=)
NM_001164508.2(NEB):c.5628C>G (p.Leu1876=) rs771407375
NM_001164508.2(NEB):c.5651C>T (p.Ser1884Phe) rs780988604
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5714A>G (p.Asp1905Gly) rs2154172277
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.5768del (p.Gln1923fs) rs2154169021
NM_001164508.2(NEB):c.5819T>C (p.Leu1940Pro)
NM_001164508.2(NEB):c.5849A>C (p.Lys1950Thr) rs758655350
NM_001164508.2(NEB):c.5866A>G (p.Ser1956Gly)
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
NM_001164508.2(NEB):c.5932A>G (p.Met1978Val)
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001164508.2(NEB):c.5983C>G (p.Gln1995Glu)
NM_001164508.2(NEB):c.598G>A (p.Ala200Thr)
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6091T>A (p.Ser2031Thr)
NM_001164508.2(NEB):c.612+1G>A rs1202331107
NM_001164508.2(NEB):c.612+5G>A rs775692122
NM_001164508.2(NEB):c.6184-2A>G rs1575300582
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1]) rs767681176
NM_001164508.2(NEB):c.6205G>A (p.Glu2069Lys)
NM_001164508.2(NEB):c.6248A>T (p.Asp2083Val) rs368626849
NM_001164508.2(NEB):c.6254C>T (p.Pro2085Leu) rs773025267
NM_001164508.2(NEB):c.6286A>G (p.Met2096Val)
NM_001164508.2(NEB):c.6296A>T (p.Asp2099Val) rs2154149108
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn) rs1234273631
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val) rs373439650
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
NM_001164508.2(NEB):c.6594T>A (p.Tyr2198Ter)
NM_001164508.2(NEB):c.659C>T (p.Pro220Leu)
NM_001164508.2(NEB):c.6623C>T (p.Pro2208Leu)
NM_001164508.2(NEB):c.6631T>G (p.Phe2211Val)
NM_001164508.2(NEB):c.6662A>G (p.Asp2221Gly)
NM_001164508.2(NEB):c.6667del (p.Val2223fs)
NM_001164508.2(NEB):c.6702+36G>A
NM_001164508.2(NEB):c.6724A>G (p.Asn2242Asp)
NM_001164508.2(NEB):c.6748G>A (p.Val2250Met)
NM_001164508.2(NEB):c.6754C>T (p.Pro2252Ser)
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter) rs773605767
NM_001164508.2(NEB):c.6778G>C (p.Ala2260Pro)
NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu)
NM_001164508.2(NEB):c.6922_6928delinsAACAAAA (p.Tyr2308_Gln2310delinsAsnLysLys)
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser) rs757526825
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala) rs1558825869
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
NM_001164508.2(NEB):c.707C>G (p.Ala236Gly) rs2099780369
NM_001164508.2(NEB):c.7106C>A (p.Ala2369Asp)
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001164508.2(NEB):c.7138G>A (p.Asp2380Asn)
NM_001164508.2(NEB):c.7144A>C (p.Lys2382Gln)
NM_001164508.2(NEB):c.7282G>A (p.Gly2428Ser)
NM_001164508.2(NEB):c.7289T>C (p.Leu2430Ser)
NM_001164508.2(NEB):c.7309C>G (p.Arg2437Gly)
NM_001164508.2(NEB):c.7312G>A (p.Ala2438Thr) rs202233025
NM_001164508.2(NEB):c.7335G>C (p.Lys2445Asn) rs886043134
NM_001164508.2(NEB):c.7339T>C (p.Tyr2447His)
NM_001164508.2(NEB):c.7379C>T (p.Pro2460Leu) rs2099016244
NM_001164508.2(NEB):c.7390G>A (p.Asp2464Asn)
NM_001164508.2(NEB):c.739del (p.Ala247fs) rs2150350376
NM_001164508.2(NEB):c.7431+1919_7431+1953del rs2154129041
NM_001164508.2(NEB):c.7432-1183C>A
NM_001164508.2(NEB):c.7438T>C (p.Tyr2480His)
NM_001164508.2(NEB):c.7480A>G (p.Met2494Val)
NM_001164508.2(NEB):c.7499T>C (p.Ile2500Thr) rs1389139743
NM_001164508.2(NEB):c.7513G>A (p.Ala2505Thr)
NM_001164508.2(NEB):c.7519_7520del (p.Leu2507fs)
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7579T>C (p.Tyr2527His)
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
NM_001164508.2(NEB):c.7621G>A (p.Ala2541Thr)
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu)
NM_001164508.2(NEB):c.7678G>A (p.Gly2560Ser)
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
NM_001164508.2(NEB):c.7748T>C (p.Ile2583Thr) rs886042764
NM_001164508.2(NEB):c.7781A>G (p.Glu2594Gly)
NM_001164508.2(NEB):c.7837A>C (p.Lys2613Gln)
NM_001164508.2(NEB):c.7872C>T (p.Tyr2624=)
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp)
NM_001164508.2(NEB):c.7957-3C>T
NM_001164508.2(NEB):c.7962G>T (p.Leu2654Phe)
NM_001164508.2(NEB):c.7966A>T (p.Lys2656Ter) rs745420110
NM_001164508.2(NEB):c.8017C>G (p.Leu2673Val)
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8129T>C (p.Leu2710Ser)
NM_001164508.2(NEB):c.8161-4T>G
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001164508.2(NEB):c.8195C>G (p.Thr2732Ser)
NM_001164508.2(NEB):c.8206A>G (p.Ile2736Val)
NM_001164508.2(NEB):c.821A>C (p.Lys274Thr)
NM_001164508.2(NEB):c.8265+1G>A rs1131691547
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro) rs398124173
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
NM_001164508.2(NEB):c.8416A>G (p.Ile2806Val)
NM_001164508.2(NEB):c.8422G>T (p.Ala2808Ser)
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001164508.2(NEB):c.8487C>G (p.Asp2829Glu)
NM_001164508.2(NEB):c.8584G>A (p.Val2862Ile)
NM_001164508.2(NEB):c.8597A>G (p.Asp2866Gly) rs370002964
NM_001164508.2(NEB):c.8642G>A (p.Ser2881Asn)
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala) rs2098832346
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp) rs748618562
NM_001164508.2(NEB):c.8685+4A>T
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser) rs753718572
NM_001164508.2(NEB):c.8794A>G (p.Ile2932Val) rs2098826922
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
NM_001164508.2(NEB):c.8935A>G (p.Ile2979Val) rs1250321534
NM_001164508.2(NEB):c.9001T>G (p.Tyr3001Asp) rs1553955663
NM_001164508.2(NEB):c.902G>A (p.Arg301Lys)
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn) rs2099741678
NM_001164508.2(NEB):c.903A>T (p.Arg301Ser)
NM_001164508.2(NEB):c.9054C>T (p.Asp3018=) rs748395516
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
NM_001164508.2(NEB):c.9102+1G>A rs143644938
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
NM_001164508.2(NEB):c.9129G>T (p.Lys3043Asn)
NM_001164508.2(NEB):c.9131A>G (p.Gln3044Arg) rs2154081382
NM_001164508.2(NEB):c.922A>G (p.Ser308Gly)
NM_001164508.2(NEB):c.927+14G>A rs1577279380
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001164508.2(NEB):c.9371_9372delinsAT (p.Ser3124Asn)
NM_001164508.2(NEB):c.9374A>G (p.Asp3125Gly)
NM_001164508.2(NEB):c.9377T>C (p.Val3126Ala) rs1560731497
NM_001164508.2(NEB):c.9389G>A (p.Arg3130Gln)
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg)
NM_001164508.2(NEB):c.9503C>T (p.Thr3168Ile) rs2098661076
NM_001164508.2(NEB):c.9505G>T (p.Glu3169Ter) rs370265998
NM_001164508.2(NEB):c.9530G>A (p.Arg3177His)
NM_001164508.2(NEB):c.9546G>T (p.Lys3182Asn)
NM_001164508.2(NEB):c.9552A>G (p.Lys3184=) rs2154073140
NM_001164508.2(NEB):c.955A>G (p.Met319Val) rs1269690979
NM_001164508.2(NEB):c.9576A>G (p.Leu3192=) rs779042130
NM_001164508.2(NEB):c.9619C>A (p.Arg3207Ser) rs200351671
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001164508.2(NEB):c.9631G>C (p.Glu3211Gln)
NM_001164508.2(NEB):c.9723+232G>C
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln) rs200930670
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
NM_001164508.2(NEB):c.9831+4A>G rs727504035
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg) rs772766917
NM_001164508.2(NEB):c.9847G>A (p.Gly3283Ser)
NM_001164508.2(NEB):c.985G>A (p.Glu329Lys) rs753638647
NM_001164508.2(NEB):c.9919A>G (p.Met3307Val)
NM_001164508.2(NEB):c.9920T>C (p.Met3307Thr)

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