ClinVar Miner

List of variants in gene NEB studied for congenital myopathy

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7767
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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.294+52T>G rs4664499 0.85425
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_001164508.2(NEB):c.402+101A>G rs4300824 0.78142
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001164508.2(NEB):c.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.20368-57G>A rs4664486 0.59006
NM_001164508.2(NEB):c.20998-44A>C rs3732310 0.56531
NM_001164508.2(NEB):c.19731+103G>T rs4575719 0.55813
NM_001164508.2(NEB):c.10452+71T>C rs10186482 0.50955
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.1675-67C>T rs10193188 0.29744
NM_001164508.2(NEB):c.5763+35T>C rs12620077 0.29408
NM_001164508.2(NEB):c.8160+84G>A rs4664494 0.29054
NM_001164508.2(NEB):c.19314+42C>T rs2288206 0.27894
NM_001164508.2(NEB):c.18366+78T>C rs7602715 0.27138
NM_001164508.2(NEB):c.5763+281G>A rs12616767 0.26661
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_001164508.2(NEB):c.16909-168C>T rs3771901 0.26318
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001164508.2(NEB):c.17535+90A>G rs3732312 0.24731
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_001164508.2(NEB):c.18156+222T>A rs12052998 0.24703
NM_001164508.2(NEB):c.11077-19T>C rs4303716 0.21438
NM_001164508.2(NEB):c.4611+70T>C rs58903550 0.20373
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713 0.20353
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001164508.2(NEB):c.11289+99G>A rs62174707 0.19979
NM_001164508.2(NEB):c.3901= (p.Tyr1301=) rs6711382 0.18897
NM_001164508.2(NEB):c.5031+48A>G rs4664496 0.18844
NM_001164508.2(NEB):c.8161-118A>T rs35172004 0.18143
NM_001164508.2(NEB):c.3879+20G>T rs12618063 0.17493
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_001164508.2(NEB):c.7957-152C>T rs28375835 0.12498
NM_001164508.2(NEB):c.12018+29G>A rs11902616 0.11589
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_001164508.2(NEB):c.6184-14T>A rs10173335 0.09664
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_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.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.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.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_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.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.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.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.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.11077-20_11077-19insC rs1553905611 0.00400
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.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.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.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.19944+3G>A rs115142419 0.00250
NM_001164508.2(NEB):c.2523+20C>G rs186473611 0.00245
NM_001164508.2(NEB):c.20682+13G>A rs189918704 0.00244
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.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.6615C>G (p.Arg2205=) rs200018782 0.00226
NM_001164508.2(NEB):c.675G>A (p.Pro225=) rs138528093 0.00225
NM_001164508.2(NEB):c.13369-13T>C rs1289487534 0.00217
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=) rs149162847 0.00217
NM_001164508.2(NEB):c.13779A>G (p.Leu4593=) rs1057522591 0.00209
NM_001164508.2(NEB):c.20466+11A>G rs181826071 0.00206
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.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.16449C>T (p.Ser5483=) rs546992311 0.00148
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.2318A>G (p.Tyr773Cys) rs77151072 0.00146
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.2637+17A>G rs145112154 0.00133
NM_001164508.2(NEB):c.1035+16C>A rs141976907 0.00131
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521 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.12640-4A>G rs549888246 0.00122
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001164508.2(NEB):c.17601G>A (p.Val5867=) rs58263509 0.00118
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 0.00117
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001164508.2(NEB):c.469A>G (p.Ile157Val) rs188718613 0.00115
NM_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.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.8373+13G>A rs199564399 0.00105
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.3987+11A>T rs116903097 0.00092
NM_001164508.2(NEB):c.1897-16A>G rs186001008 0.00091
NM_001164508.2(NEB):c.9354A>G (p.Thr3118=) rs187637065 0.00089
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=) rs375543045 0.00088
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053 0.00083
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) rs148095660 0.00081
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032 0.00081
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960 0.00079
NM_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.5763+15C>T rs148455519 0.00073
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.2524-15G>T rs151206071 0.00059
NM_001164508.2(NEB):c.20367+16G>C rs145636096 0.00058
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=) rs186244044 0.00058
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=) rs183998406 0.00058
NM_001164508.2(NEB):c.19284C>T (p.His6428=) rs201005449 0.00056
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_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.19315-10T>C rs201473873 0.00048
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.20263-18G>A rs377143618 0.00047
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.2589C>T (p.Asp863=) rs370176216 0.00043
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
NM_001164508.2(NEB):c.2107-8C>T rs369441230 0.00042
NM_001164508.2(NEB):c.5031+4T>C rs370999716 0.00041
NM_001164508.2(NEB):c.6435C>T (p.Ile2145=) rs375014703 0.00040
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.18897G>T (p.Val6299=) rs568599013 0.00037
NM_001164508.2(NEB):c.11911-17T>C rs144836165 0.00036
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.6183+17C>T rs371738434 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.20946A>G (p.Lys6982=) rs371201870 0.00030
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212 0.00029
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.20853C>T (p.Ile6951=) rs199730497 0.00028
NM_001164508.2(NEB):c.9126C>T (p.Cys3042=) rs373453206 0.00028
NM_001164508.2(NEB):c.78+18G>C rs375533560 0.00027
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.1257+14C>T rs377047616 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.7228-20C>T rs185977475 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.5520C>T (p.Asp1840=) rs555782688 0.00023
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.492G>A (p.Ser164=) rs371015050 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.9178A>G (p.Met3060Val) rs538524863 0.00021
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=) rs144673752 0.00020
NM_001164508.2(NEB):c.1569C>T (p.Asp523=) rs200758495 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.19326G>C (p.Arg6442=) rs779349365 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.5225T>G (p.Leu1742Arg) rs202113159 0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met) rs377375638 0.00019
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp) rs371490023 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.2638-19G>C rs750188445 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.144C>T (p.Ser48=) rs373652428 0.00017
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.6291A>G (p.Gln2097=) rs753864118 0.00017
NM_001164508.2(NEB):c.6486A>G (p.Ile2162Met) rs370994522 0.00017
NM_001164508.2(NEB):c.6807+10T>C rs375723456 0.00017
NM_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.21270G>T (p.Pro7090=) rs368887173 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.7227+13T>G rs373818296 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.9867C>T (p.Gly3289=) rs150283068 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.13539G>A (p.Lys4513=) rs1418203010 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.4305G>A (p.Val1435=) rs111241479 0.00015
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_001164508.2(NEB):c.11076+14C>T rs374866390 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.1281A>G (p.Leu427=) rs752890513 0.00014
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg) rs368150737 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.2212-4C>G rs781315546 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.60C>T (p.Tyr20=) rs768163455 0.00014
NM_001164508.2(NEB):c.6916-4T>G rs745912237 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 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.1119G>A (p.Arg373=) rs200914626 0.00013
NM_001164508.2(NEB):c.12639+16A>G rs752536032 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.16713C>T (p.Tyr5571=) rs202142644 0.00013
NM_001164508.2(NEB):c.17898G>A (p.Pro5966=) rs376655029 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.642C>A (p.Asp214Glu) rs373133009 0.00013
NM_001164508.2(NEB):c.6491G>A (p.Ser2164Asn) rs780626863 0.00013
NM_001164508.2(NEB):c.7644+18G>C rs772614356 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.12316G>A (p.Asp4106Asn) rs192843524 0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr) rs375294508 0.00012
NM_001164508.2(NEB):c.18342G>A (p.Lys6114=) rs565998554 0.00012
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449 0.00012
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737 0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln) rs372804439 0.00012
NM_001164508.2(NEB):c.2823G>A (p.Ala941=) rs376849181 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.5249C>T (p.Thr1750Ile) rs571713476 0.00012
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=) rs373278622 0.00012
NM_001164508.2(NEB):c.780A>G (p.Pro260=) rs80255720 0.00012
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=) rs377015178 0.00012
NM_001164508.2(NEB):c.8115C>T (p.Ser2705=) rs755894828 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.11077-62A>G rs951123465 0.00011
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.17518G>A (p.Ala5840Thr) rs376277385 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.19944+14A>T rs147106649 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.5554A>G (p.Met1852Val) rs370172690 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.6807+5A>G rs746481799 0.00011
NM_001164508.2(NEB):c.6885A>G (p.Leu2295=) rs369426786 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.1182A>C (p.Thr394=) rs186233985 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.18224A>C (p.His6075Pro) rs768813228 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.20158-5C>T rs376869270 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.4032G>T (p.Val1344=) rs373748794 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=) rs765208384 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.13638C>T (p.Ile4546=) rs1225197770 0.00009
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn) rs200672818 0.00009
NM_001164508.2(NEB):c.17581G>A (p.Asp5861Asn) rs375837416 0.00009
NM_001164508.2(NEB):c.17844+7C>T rs373259828 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.18939C>T (p.Tyr6313=) rs201622661 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.19803G>A (p.Val6601=) rs374957115 0.00009
NM_001164508.2(NEB):c.20211C>T (p.Pro6737=) rs771038288 0.00009
NM_001164508.2(NEB):c.2064A>G (p.Pro688=) rs764952901 0.00009
NM_001164508.2(NEB):c.20893-11T>C rs201173663 0.00009
NM_001164508.2(NEB):c.21027G>A (p.Gln7009=) rs758282270 0.00009
NM_001164508.2(NEB):c.4607G>A (p.Ser1536Asn) rs182143534 0.00009
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579 0.00009
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=) rs373353657 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.9832-7A>T rs778183317 0.00009
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala) rs199890164 0.00009
NM_001164508.2(NEB):c.10196T>C (p.Ile3399Thr) rs377734027 0.00008
NM_001164508.2(NEB):c.11277T>C (p.Asp3759=) rs775887711 0.00008
NM_001164508.2(NEB):c.11911-20G>A rs749556721 0.00008
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.13059+14C>T rs1456707041 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.17737-19T>C rs367755687 0.00008
NM_001164508.2(NEB):c.19788T>C (p.Asp6596=) rs974199168 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.20565A>G (p.Thr6855=) rs377243130 0.00008
NM_001164508.2(NEB):c.3042+11A>G rs758960950 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.4431T>C (p.Asp1477=) rs140558263 0.00008
NM_001164508.2(NEB):c.5724C>T (p.Ser1908=) rs370965998 0.00008
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137 0.00008
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly) rs201747395 0.00008
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn) rs375811851 0.00008
NM_001164508.2(NEB):c.9619-9C>T rs778009768 0.00008
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile) rs375830667 0.00007
NM_001164508.2(NEB):c.10144-15G>A rs375731546 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.11034G>A (p.Pro3678=) rs528974814 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.1362T>C (p.Ser454=) rs747277167 0.00007
NM_001164508.2(NEB):c.16779A>G (p.Arg5593=) rs369688367 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.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.20019C>T (p.His6673=) rs374881368 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001164508.2(NEB):c.20454G>C (p.Leu6818=) rs374662309 0.00007
NM_001164508.2(NEB):c.2475C>T (p.Asp825=) rs180881237 0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His) rs546250852 0.00007
NM_001164508.2(NEB):c.3936C>T (p.Gly1312=) rs753005851 0.00007
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831 0.00007
NM_001164508.2(NEB):c.5160C>T (p.Pro1720=) rs377168964 0.00007
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu) rs200468391 0.00007
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=) rs368371414 0.00007
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067 0.00007
NM_001164508.2(NEB):c.6184-19A>G rs762124925 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.-114+3A>G rs772077208 0.00006
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.10386A>G (p.Gln3462=) rs749927128 0.00006
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile) rs368842783 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.12027C>T (p.Tyr4009=) rs745881254 0.00006
NM_001164508.2(NEB):c.12074G>T (p.Ser4025Ile) rs767858255 0.00006
NM_001164508.2(NEB):c.16983C>T (p.Leu5661=) rs377481097 0.00006
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=) rs769476760 0.00006
NM_001164508.2(NEB):c.17519C>T (p.Ala5840Val) rs539856643 0.00006
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=) rs377183242 0.00006
NM_001164508.2(NEB):c.18156+17T>G rs200662106 0.00006
NM_001164508.2(NEB):c.18166A>G (p.Arg6056Gly) rs779413062 0.00006
NM_001164508.2(NEB):c.18322C>T (p.Pro6108Ser) rs750393216 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.19749C>T (p.His6583=) rs768711941 0.00006
NM_001164508.2(NEB):c.20127C>T (p.His6709=) rs368328496 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.21215A>G (p.Tyr7072Cys) rs763554121 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.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001164508.2(NEB):c.2515A>G (p.Thr839Ala) rs779630318 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.4103G>A (p.Arg1368His) rs201984572 0.00006
NM_001164508.2(NEB):c.4251C>T (p.Asp1417=) rs550832252 0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00006
NM_001164508.2(NEB):c.507+9A>G rs372645309 0.00006
NM_001164508.2(NEB):c.5247C>T (p.Tyr1749=) rs777520288 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.5551A>G (p.Lys1851Glu) rs746409256 0.00006
NM_001164508.2(NEB):c.5925G>A (p.Ser1975=) rs1206630690 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.6076-9T>C rs765399302 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.738C>T (p.Leu246=) rs368500993 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.7459G>A (p.Asp2487Asn) rs764278567 0.00006
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 0.00006
NM_001164508.2(NEB):c.7737T>C (p.His2579=) rs528614990 0.00006
NM_001164508.2(NEB):c.78+6G>A rs376085885 0.00006
NM_001164508.2(NEB):c.7875G>A (p.Lys2625=) rs577894144 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.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr) rs370738668 0.00006
NM_001164508.2(NEB):c.9360G>A (p.Leu3120=) rs749865900 0.00006
NM_001164508.2(NEB):c.9369G>A (p.Gln3123=) rs763454860 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.9883C>T (p.Arg3295Trp) rs750990726 0.00006
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys) rs374359052 0.00005
NM_001164508.2(NEB):c.10140C>T (p.Ser3380=) rs199870629 0.00005
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His) rs371605774 0.00005
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu) rs573693040 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.10988G>A (p.Arg3663His) rs550715282 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.11182-8T>A rs183088493 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.11712G>A (p.Lys3904=) rs767231395 0.00005
NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299 0.00005
NM_001164508.2(NEB):c.12769C>T (p.Arg4257Cys) rs1376744526 0.00005
NM_001164508.2(NEB):c.1296A>T (p.Gly432=) rs751665091 0.00005
NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=) rs1167279039 0.00005
NM_001164508.2(NEB):c.13059+4C>T rs1253831275 0.00005
NM_001164508.2(NEB):c.1675-4C>G rs369915027 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.17832C>T (p.Asp5944=) rs544453966 0.00005
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met) rs778982089 0.00005
NM_001164508.2(NEB):c.18381A>G (p.Glu6127=) rs1055886459 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.19899C>T (p.Thr6633=) rs370742146 0.00005
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528 0.00005
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met) rs757505325 0.00005
NM_001164508.2(NEB):c.252C>T (p.Pro84=) rs201735545 0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr) rs753428817 0.00005
NM_001164508.2(NEB):c.2687C>T (p.Pro896Leu) rs746502484 0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.2819A>G (p.Tyr940Cys) rs369875205 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001164508.2(NEB):c.4481A>G (p.Gln1494Arg) rs769642582 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.5031+7A>T rs767637405 0.00005
NM_001164508.2(NEB):c.5032-9A>G rs1274542788 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.7185C>T (p.Asn2395=) rs775336786 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.8625A>G (p.Thr2875=) rs200386897 0.00005
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg) rs202035863 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.10074C>T (p.His3358=) rs896373241 0.00004
NM_001164508.2(NEB):c.10083G>A (p.Thr3361=) rs778762176 0.00004
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.1015G>A (p.Ala339Thr) rs762993577 0.00004
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.10827G>A (p.Gln3609=) rs775200475 0.00004
NM_001164508.2(NEB):c.10986C>T (p.Tyr3662=) rs373365702 0.00004
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met) rs775362248 0.00004
NM_001164508.2(NEB):c.11082A>G (p.Leu3694=) rs774349707 0.00004
NM_001164508.2(NEB):c.11697C>A (p.Ile3899=) rs755871388 0.00004
NM_001164508.2(NEB):c.11763G>A (p.Pro3921=) rs554366790 0.00004
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met) rs759624618 0.00004
NM_001164508.2(NEB):c.12018+20C>T rs951202856 0.00004
NM_001164508.2(NEB):c.12062T>C (p.Ile4021Thr) rs370068571 0.00004
NM_001164508.2(NEB):c.12537A>G (p.Lys4179=) rs753569565 0.00004
NM_001164508.2(NEB):c.12594T>G (p.Thr4198=) rs1253550964 0.00004
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930 0.00004
NM_001164508.2(NEB):c.13047C>T (p.Asp4349=) rs886038431 0.00004
NM_001164508.2(NEB):c.13179A>C (p.Ile4393=) rs1314887624 0.00004
NM_001164508.2(NEB):c.1350A>G (p.Thr450=) rs774227589 0.00004
NM_001164508.2(NEB):c.1386C>T (p.Tyr462=) rs376911383 0.00004
NM_001164508.2(NEB):c.1602G>C (p.Lys534Asn) rs777148695 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.17160C>T (p.Tyr5720=) rs768508081 0.00004
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.17496C>T (p.Ser5832=) rs746291431 0.00004
NM_001164508.2(NEB):c.1779C>T (p.Ser593=) rs1212529440 0.00004
NM_001164508.2(NEB):c.17814T>C (p.His5938=) rs776069270 0.00004
NM_001164508.2(NEB):c.17845-6C>T rs376370460 0.00004
NM_001164508.2(NEB):c.1800C>T (p.Asp600=) rs532710372 0.00004
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154 0.00004
NM_001164508.2(NEB):c.18471+20A>G rs202133044 0.00004
NM_001164508.2(NEB):c.18489G>A (p.Ala6163=) rs371669095 0.00004
NM_001164508.2(NEB):c.18839T>C (p.Leu6280Pro) rs372271428 0.00004
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=) rs141925015 0.00004
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=) rs771969348 0.00004
NM_001164508.2(NEB):c.1914C>T (p.Asn638=) rs901423026 0.00004
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939 0.00004
NM_001164508.2(NEB):c.19386G>A (p.Pro6462=) rs199835469 0.00004
NM_001164508.2(NEB):c.1953G>A (p.Glu651=) rs367997645 0.00004
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=) rs141526973 0.00004
NM_001164508.2(NEB):c.19737G>A (p.Lys6579=) rs770882814 0.00004
NM_001164508.2(NEB):c.1998+9A>G rs772240494 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.20158-4G>T rs568113302 0.00004
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00004
NM_001164508.2(NEB):c.20346T>C (p.Tyr6782=) rs767355230 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.20577+8C>T rs762136090 0.00004
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu) rs376157878 0.00004
NM_001164508.2(NEB):c.20940G>A (p.Thr6980=) rs369611234 0.00004
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile) rs776012642 0.00004
NM_001164508.2(NEB):c.20998-13T>C rs375312685 0.00004
NM_001164508.2(NEB):c.218G>A (p.Arg73Gln) rs727504037 0.00004
NM_001164508.2(NEB):c.2250G>A (p.Thr750=) rs753965951 0.00004
NM_001164508.2(NEB):c.255C>T (p.Tyr85=) rs375749306 0.00004
NM_001164508.2(NEB):c.2657A>C (p.Tyr886Ser) rs371105660 0.00004
NM_001164508.2(NEB):c.27G>A (p.Glu9=) rs1197614931 0.00004
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00004
NM_001164508.2(NEB):c.295-8C>T rs767768026 0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402 0.00004
NM_001164508.2(NEB):c.3567+7G>C rs754580455 0.00004
NM_001164508.2(NEB):c.3570C>T (p.Asn1190=) rs377168325 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.4119C>G (p.Asn1373Lys) rs377653217 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.4300-4A>G rs762231656 0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His) rs748121656 0.00004
NM_001164508.2(NEB):c.4434C>T (p.Thr1478=) rs747503023 0.00004
NM_001164508.2(NEB):c.4509G>A (p.Leu1503=) rs749368259 0.00004
NM_001164508.2(NEB):c.4593C>T (p.Asn1531=) rs373328073 0.00004
NM_001164508.2(NEB):c.4680A>T (p.Pro1560=) rs369222043 0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val) rs748679499 0.00004
NM_001164508.2(NEB):c.486A>G (p.Lys162=) rs768796648 0.00004
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu) rs747225286 0.00004
NM_001164508.2(NEB):c.5043A>G (p.Lys1681=) rs201968673 0.00004
NM_001164508.2(NEB):c.5073C>T (p.Ile1691=) rs190322907 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.5174T>C (p.Phe1725Ser) rs368270996 0.00004
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=) rs769446481 0.00004
NM_001164508.2(NEB):c.5413A>G (p.Ile1805Val) rs200412065 0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val) rs752744680 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_001164508.2(NEB):c.5641G>A (p.Ala1881Thr) rs547507758 0.00004
NM_001164508.2(NEB):c.5685C>T (p.Asn1895=) rs767710041 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.6351C>T (p.Ala2117=) rs756476348 0.00004
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=) rs376535906 0.00004
NM_001164508.2(NEB):c.6916-20T>C rs780933765 0.00004
NM_001164508.2(NEB):c.6932G>C (p.Gly2311Ala) rs372655602 0.00004
NM_001164508.2(NEB):c.7134C>T (p.Asp2378=) rs752098313 0.00004
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu) rs777231395 0.00004
NM_001164508.2(NEB):c.7549A>G (p.Met2517Val) rs577856870 0.00004
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057 0.00004
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=) rs371565168 0.00004
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=) rs559846137 0.00004
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met) rs905660353 0.00004
NM_001164508.2(NEB):c.7905C>T (p.Pro2635=) rs768623821 0.00004
NM_001164508.2(NEB):c.7906G>A (p.Asp2636Asn) rs760643814 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.8582T>C (p.Leu2861Ser) rs529735446 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.8834T>C (p.Val2945Ala) rs748120166 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001164508.2(NEB):c.8994+14C>T rs769383205 0.00004
NM_001164508.2(NEB):c.8995-20T>A rs769910108 0.00004
NM_001164508.2(NEB):c.9000G>A (p.Leu3000=) rs755291072 0.00004
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu) rs780293943 0.00004
NM_001164508.2(NEB):c.9198A>G (p.Val3066=) rs752327839 0.00004
NM_001164508.2(NEB):c.9564G>T (p.Val3188=) rs769658110 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001164508.2(NEB):c.9813C>T (p.Ser3271=) rs372239158 0.00004
NM_001164508.2(NEB):c.9864C>T (p.Leu3288=) rs775810612 0.00004
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773 0.00003
NM_001164508.2(NEB):c.10127A>G (p.Tyr3376Cys) rs754298562 0.00003
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034 0.00003
NM_001164508.2(NEB):c.1035+7G>A rs748388746 0.00003
NM_001164508.2(NEB):c.104C>T (p.Thr35Met) rs749153659 0.00003
NM_001164508.2(NEB):c.10578A>G (p.Ala3526=) rs760118695 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.10872C>T (p.Asp3624=) rs781328083 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.11072A>G (p.Asn3691Ser) rs1184035076 0.00003
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=) rs200043736 0.00003
NM_001164508.2(NEB):c.11562C>T (p.Asp3854=) rs376268872 0.00003
NM_001164508.2(NEB):c.11570A>G (p.Gln3857Arg) rs760525587 0.00003
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717 0.00003
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys) rs753450456 0.00003
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078 0.00003
NM_001164508.2(NEB):c.11766A>T (p.Glu3922Asp) rs368162982 0.00003
NM_001164508.2(NEB):c.11806-7C>A rs779713133 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449 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.12200T>C (p.Ile4067Thr) rs746008098 0.00003
NM_001164508.2(NEB):c.12210C>G (p.Ala4070=) rs749556191 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001164508.2(NEB):c.12288C>T (p.Asn4096=) rs755521679 0.00003
NM_001164508.2(NEB):c.1230T>C (p.Asp410=) rs78892743 0.00003
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys) rs756162358 0.00003
NM_001164508.2(NEB):c.12639+11C>T rs1057523954 0.00003
NM_001164508.2(NEB):c.12666C>T (p.Asp4222=) rs1310326732 0.00003
NM_001164508.2(NEB):c.12747+4C>T rs1436792470 0.00003
NM_001164508.2(NEB):c.1339A>G (p.Met447Val) rs774284999 0.00003
NM_001164508.2(NEB):c.1365+14C>A rs750849844 0.00003
NM_001164508.2(NEB):c.16791C>T (p.Ala5597=) rs1424776223 0.00003
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met) rs200952733 0.00003
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744 0.00003
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015 0.00003
NM_001164508.2(NEB):c.17118+8G>A rs767062620 0.00003
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg) rs200501968 0.00003
NM_001164508.2(NEB):c.1713A>G (p.Lys571=) rs753119399 0.00003
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 0.00003
NM_001164508.2(NEB):c.17445T>C (p.Ala5815=) rs1446851456 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.17635-15_17635-14insG rs1359883456 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.18012T>C (p.Ala6004=) rs760396389 0.00003
NM_001164508.2(NEB):c.18033C>T (p.Ala6011=) rs771890971 0.00003
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His) rs751957350 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.18693+5G>A rs377482159 0.00003
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg) rs760552939 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001164508.2(NEB):c.18892-19T>C rs777342340 0.00003
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705 0.00003
NM_001164508.2(NEB):c.18981C>T (p.Tyr6327=) rs761964375 0.00003
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn) rs768390701 0.00003
NM_001164508.2(NEB):c.19101+4C>T rs778716460 0.00003
NM_001164508.2(NEB):c.19245C>T (p.Thr6415=) rs967486464 0.00003
NM_001164508.2(NEB):c.19272G>A (p.Leu6424=) rs772134778 0.00003
NM_001164508.2(NEB):c.19699C>A (p.His6567Asn) rs886054933 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.19836C>T (p.Asp6612=) rs371194689 0.00003
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=) rs753253128 0.00003
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys) rs762552898 0.00003
NM_001164508.2(NEB):c.20367+15G>C rs886054931 0.00003
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val) rs370764959 0.00003
NM_001164508.2(NEB):c.20578-8A>G rs368526624 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.20670G>A (p.Lys6890=) rs768041857 0.00003
NM_001164508.2(NEB):c.2074C>T (p.His692Tyr) rs753761094 0.00003
NM_001164508.2(NEB):c.20847G>A (p.Thr6949=) rs759425229 0.00003
NM_001164508.2(NEB):c.20966A>T (p.Tyr6989Phe) rs537451022 0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His) rs781020561 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.21276T>C (p.Asn7092=) rs780045200 0.00003
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592 0.00003
NM_001164508.2(NEB):c.2550G>A (p.Lys850=) rs1012090134 0.00003
NM_001164508.2(NEB):c.2780C>G (p.Pro927Arg) rs201124975 0.00003
NM_001164508.2(NEB):c.2811G>A (p.Lys937=) rs756495284 0.00003
NM_001164508.2(NEB):c.2944-16T>C rs1057224357 0.00003
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=) rs372664114 0.00003
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=) rs543961404 0.00003
NM_001164508.2(NEB):c.339C>T (p.Tyr113=) rs546510007 0.00003
NM_001164508.2(NEB):c.340G>A (p.Ala114Thr) rs779928749 0.00003
NM_001164508.2(NEB):c.3438C>T (p.Val1146=) rs373118761 0.00003
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu) rs781515499 0.00003
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys) rs764769462 0.00003
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser) rs1320792762 0.00003
NM_001164508.2(NEB):c.3696A>G (p.Pro1232=) rs201420007 0.00003
NM_001164508.2(NEB):c.384A>G (p.Val128=) rs1367507542 0.00003
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 0.00003
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp) rs1219268531 0.00003
NM_001164508.2(NEB):c.4341C>T (p.Ile1447=) rs576286059 0.00003
NM_001164508.2(NEB):c.4393G>A (p.Asp1465Asn) rs745382279 0.00003
NM_001164508.2(NEB):c.448G>A (p.Val150Ile) rs376288418 0.00003
NM_001164508.2(NEB):c.475C>T (p.His159Tyr) rs776746330 0.00003
NM_001164508.2(NEB):c.4835G>A (p.Arg1612His) rs534531948 0.00003
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=) rs371962475 0.00003
NM_001164508.2(NEB):c.5149C>T (p.Arg1717Cys) rs769725005 0.00003
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr) rs371639863 0.00003
NM_001164508.2(NEB):c.5581G>A (p.Gly1861Arg) rs1413371715 0.00003
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val) rs201940342 0.00003
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895 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.6075+18del rs1444018232 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.6315C>T (p.Asn2105=) rs752114805 0.00003
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala) rs578023308 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.6495+6G>A rs1022052250 0.00003
NM_001164508.2(NEB):c.65A>G (p.Glu22Gly) rs1335474782 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.6807+11A>G rs745490728 0.00003
NM_001164508.2(NEB):c.7167A>G (p.Thr2389=) rs768429146 0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384 0.00003
NM_001164508.2(NEB):c.7545C>T (p.Tyr2515=) rs776265168 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 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.7808C>T (p.Pro2603Leu) rs1259492469 0.00003
NM_001164508.2(NEB):c.7917T>C (p.Asp2639=) rs745410848 0.00003
NM_001164508.2(NEB):c.7957-9C>A rs747482412 0.00003
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys) rs750799792 0.00003
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064 0.00003
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972 0.00003
NM_001164508.2(NEB):c.9066C>T (p.Ile3022=) rs751919085 0.00003
NM_001164508.2(NEB):c.9111T>C (p.Tyr3037=) rs1488961406 0.00003
NM_001164508.2(NEB):c.9132A>G (p.Gln3044=) rs1237001968 0.00003
NM_001164508.2(NEB):c.9135T>C (p.Leu3045=) rs1443551422 0.00003
NM_001164508.2(NEB):c.9144T>C (p.His3048=) rs1279204640 0.00003
NM_001164508.2(NEB):c.9151G>A (p.Ala3051Thr) rs751613683 0.00003
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp) rs375216659 0.00003
NM_001164508.2(NEB):c.9285G>A (p.Val3095=) rs1306359674 0.00003
NM_001164508.2(NEB):c.9366C>A (p.Asp3122Glu) rs1271867113 0.00003
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986 0.00003
NM_001164508.2(NEB):c.9619-14A>G rs374444328 0.00003
NM_001164508.2(NEB):c.9729A>G (p.Leu3243=) rs767498749 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.9799G>T (p.Ala3267Ser) rs751450878 0.00003
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365 0.00003
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met) rs745706462 0.00002
NM_001164508.2(NEB):c.10171C>T (p.Leu3391=) rs1447971037 0.00002
NM_001164508.2(NEB):c.10282T>C (p.Phe3428Leu) rs766193154 0.00002
NM_001164508.2(NEB):c.10452+5G>A rs370685957 0.00002
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val) rs761174573 0.00002
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln) rs748799656 0.00002
NM_001164508.2(NEB):c.10743C>T (p.Ile3581=) rs745748427 0.00002
NM_001164508.2(NEB):c.10923G>A (p.Pro3641=) rs563836738 0.00002
NM_001164508.2(NEB):c.10977T>C (p.Asp3659=) rs767853017 0.00002
NM_001164508.2(NEB):c.11077-18T>C rs1055787776 0.00002
NM_001164508.2(NEB):c.11091A>C (p.Glu3697Asp) rs1470685965 0.00002
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.11225A>G (p.Tyr3742Cys) rs752598891 0.00002
NM_001164508.2(NEB):c.11310C>T (p.Tyr3770=) rs1285651436 0.00002
NM_001164508.2(NEB):c.11413A>G (p.Lys3805Glu) rs972557338 0.00002
NM_001164508.2(NEB):c.11418G>A (p.Lys3806=) rs755477956 0.00002
NM_001164508.2(NEB):c.11457G>A (p.Val3819=) rs780152095 0.00002
NM_001164508.2(NEB):c.11517C>T (p.Tyr3839=) rs748370445 0.00002
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490 0.00002
NM_001164508.2(NEB):c.11602-17C>G rs1383240433 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.11709G>A (p.Arg3903=) rs570142622 0.00002
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys) rs759419548 0.00002
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=) rs368230090 0.00002
NM_001164508.2(NEB):c.11806-4G>A rs374477471 0.00002
NM_001164508.2(NEB):c.1213C>A (p.Pro405Thr) rs1008850251 0.00002
NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg) rs1284970605 0.00002
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=) rs371771414 0.00002
NM_001164508.2(NEB):c.12278C>T (p.Pro4093Leu) rs749270501 0.00002
NM_001164508.2(NEB):c.12280G>C (p.Asp4094His) rs748607410 0.00002
NM_001164508.2(NEB):c.12312C>T (p.Ala4104=) rs1436769995 0.00002
NM_001164508.2(NEB):c.12330+4C>T rs772068098 0.00002
NM_001164508.2(NEB):c.12331-5T>C rs1171513278 0.00002
NM_001164508.2(NEB):c.12630A>G (p.Gln4210=) rs755977726 0.00002
NM_001164508.2(NEB):c.12732A>G (p.Arg4244=) rs1396568234 0.00002
NM_001164508.2(NEB):c.12947G>A (p.Cys4316Tyr) rs1192654922 0.00002
NM_001164508.2(NEB):c.12961A>G (p.Ser4321Gly) rs1447644538 0.00002
NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys) rs1270122330 0.00002
NM_001164508.2(NEB):c.12999G>C (p.Thr4333=) rs1384738774 0.00002
NM_001164508.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722 0.00002
NM_001164508.2(NEB):c.13221G>A (p.Pro4407=) rs1240952464 0.00002
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu) rs759653954 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.1675-7T>C rs757361284 0.00002
NM_001164508.2(NEB):c.16827T>C (p.Pro5609=) rs764056031 0.00002
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu) rs759755890 0.00002
NM_001164508.2(NEB):c.16845C>T (p.Tyr5615=) rs375434588 0.00002
NM_001164508.2(NEB):c.16995T>C (p.Asn5665=) rs761988373 0.00002
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met) rs746737604 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.17379C>T (p.Pro5793=) rs750950248 0.00002
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn) rs765593110 0.00002
NM_001164508.2(NEB):c.17388C>T (p.Asn5796=) rs368315700 0.00002
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn) rs375143141 0.00002
NM_001164508.2(NEB):c.17391T>C (p.Asp5797=) rs775083049 0.00002
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597 0.00002
NM_001164508.2(NEB):c.17619C>A (p.Gly5873=) rs767518298 0.00002
NM_001164508.2(NEB):c.17629G>A (p.Asp5877Asn) rs771170217 0.00002
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726 0.00002
NM_001164508.2(NEB):c.18052C>T (p.Leu6018Phe) rs1223624917 0.00002
NM_001164508.2(NEB):c.18063T>C (p.Asp6021=) rs1445425739 0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007 0.00002
NM_001164508.2(NEB):c.18157-20A>G rs747415022 0.00002
NM_001164508.2(NEB):c.1818G>A (p.Gly606=) rs560312070 0.00002
NM_001164508.2(NEB):c.18226G>C (p.Val6076Leu) rs747222372 0.00002
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile) rs553375465 0.00002
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293 0.00002
NM_001164508.2(NEB):c.18366+9G>A rs759834773 0.00002
NM_001164508.2(NEB):c.18411G>A (p.Thr6137=) rs767659024 0.00002
NM_001164508.2(NEB):c.18519C>T (p.Thr6173=) rs745448583 0.00002
NM_001164508.2(NEB):c.18567G>A (p.Leu6189=) rs773819516 0.00002
NM_001164508.2(NEB):c.18622C>G (p.Leu6208Val) rs374727099 0.00002
NM_001164508.2(NEB):c.18693+9_18693+10del rs756671954 0.00002
NM_001164508.2(NEB):c.18694-7del rs763587657 0.00002
NM_001164508.2(NEB):c.18720T>C (p.Asp6240=) rs761648965 0.00002
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225 0.00002
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870 0.00002
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys) rs1177490619 0.00002
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln) rs375182306 0.00002
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu) rs369054525 0.00002
NM_001164508.2(NEB):c.1954A>G (p.Thr652Ala) rs752227497 0.00002
NM_001164508.2(NEB):c.19689T>C (p.Pro6563=) rs1345707996 0.00002
NM_001164508.2(NEB):c.19704C>T (p.Ala6568=) rs760335435 0.00002
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr) rs1559832482 0.00002
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln) rs375307136 0.00002
NM_001164508.2(NEB):c.19926A>G (p.Ala6642=) rs370185522 0.00002
NM_001164508.2(NEB):c.19978A>G (p.Thr6660Ala) rs1027633106 0.00002
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089 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.20342G>A (p.Arg6781His) rs752285938 0.00002
NM_001164508.2(NEB):c.20367+12_20367+13del rs1438846790 0.00002
NM_001164508.2(NEB):c.20415C>T (p.Phe6805=) rs760807907 0.00002
NM_001164508.2(NEB):c.20467-16T>G rs750760976 0.00002
NM_001164508.2(NEB):c.20467-5T>A rs762368980 0.00002
NM_001164508.2(NEB):c.20467-7T>G rs1259953150 0.00002
NM_001164508.2(NEB):c.20610G>A (p.Lys6870=) rs372199850 0.00002
NM_001164508.2(NEB):c.20655C>A (p.Ala6885=) rs188280277 0.00002
NM_001164508.2(NEB):c.20683-9A>G rs769188838 0.00002
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377 0.00002
NM_001164508.2(NEB):c.20902A>G (p.Lys6968Glu) rs376580237 0.00002
NM_001164508.2(NEB):c.21208-11G>A rs1057522156 0.00002
NM_001164508.2(NEB):c.21261C>T (p.Ala7087=) rs374884826 0.00002
NM_001164508.2(NEB):c.21266C>G (p.Ser7089Cys) rs774297352 0.00002
NM_001164508.2(NEB):c.21310G>A (p.Glu7104Lys) rs754354488 0.00002
NM_001164508.2(NEB):c.228G>A (p.Val76=) rs755926462 0.00002
NM_001164508.2(NEB):c.2382C>T (p.Ile794=) rs532547534 0.00002
NM_001164508.2(NEB):c.2490G>A (p.Leu830=) rs1259136731 0.00002
NM_001164508.2(NEB):c.2521G>A (p.Asp841Asn) rs377599060 0.00002
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys) rs371027084 0.00002
NM_001164508.2(NEB):c.2641G>A (p.Glu881Lys) rs200486767 0.00002
NM_001164508.2(NEB):c.2940T>C (p.Asn980=) rs1472489170 0.00002
NM_001164508.2(NEB):c.2943+14G>A rs756509531 0.00002
NM_001164508.2(NEB):c.3042+10A>C rs370534835 0.00002
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser) rs544334101 0.00002
NM_001164508.2(NEB):c.3147+9G>A rs751551042 0.00002
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880 0.00002
NM_001164508.2(NEB):c.3210G>A (p.Ala1070=) rs201896003 0.00002
NM_001164508.2(NEB):c.322A>G (p.Thr108Ala) rs544069233 0.00002
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys) rs1377050628 0.00002
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val) rs752809792 0.00002
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp) rs758590520 0.00002
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr) rs944276562 0.00002
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu) rs765273968 0.00002
NM_001164508.2(NEB):c.36+9T>A rs754439228 0.00002
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn) rs779673816 0.00002
NM_001164508.2(NEB):c.3657C>T (p.Ala1219=) rs766494707 0.00002
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=) rs763075598 0.00002
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys) rs779213215 0.00002
NM_001164508.2(NEB):c.4116G>A (p.Lys1372=) rs202144520 0.00002
NM_001164508.2(NEB):c.4197C>T (p.Val1399=) rs771328367 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala) rs756000690 0.00002
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met) rs975412307 0.00002
NM_001164508.2(NEB):c.4380C>T (p.Val1460=) rs762099703 0.00002
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=) rs771527086 0.00002
NM_001164508.2(NEB):c.4425C>T (p.His1475=) rs371545317 0.00002
NM_001164508.2(NEB):c.4518G>A (p.Lys1506=) rs1216257726 0.00002
NM_001164508.2(NEB):c.4528G>A (p.Glu1510Lys) rs370064863 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679 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.4953G>A (p.Gln1651=) rs1320404555 0.00002
NM_001164508.2(NEB):c.5125G>C (p.Glu1709Gln) rs777705062 0.00002
NM_001164508.2(NEB):c.5157C>T (p.His1719=) rs780224782 0.00002
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile) rs552140238 0.00002
NM_001164508.2(NEB):c.5205A>G (p.Ala1735=) rs765962317 0.00002
NM_001164508.2(NEB):c.5325C>T (p.Asn1775=) rs199809548 0.00002
NM_001164508.2(NEB):c.5656G>A (p.Glu1886Lys) rs746761562 0.00002
NM_001164508.2(NEB):c.5697C>T (p.Thr1899=) rs761341951 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.5882G>A (p.Arg1961His) rs767185795 0.00002
NM_001164508.2(NEB):c.594C>T (p.Asn198=) rs571497125 0.00002
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val) rs755853362 0.00002
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile) rs760968740 0.00002
NM_001164508.2(NEB):c.6390C>T (p.Ala2130=) rs974601635 0.00002
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile) rs781202038 0.00002
NM_001164508.2(NEB):c.6474T>C (p.Asn2158=) rs1191985703 0.00002
NM_001164508.2(NEB):c.6654T>C (p.Asp2218=) rs771309223 0.00002
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val) rs200481156 0.00002
NM_001164508.2(NEB):c.6687A>G (p.Ala2229=) rs747606446 0.00002
NM_001164508.2(NEB):c.6702+19G>A rs758149842 0.00002
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu) rs770322824 0.00002
NM_001164508.2(NEB):c.6825A>T (p.Gly2275=) rs761057549 0.00002
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530 0.00002
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp) rs1204576083 0.00002
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=) rs1023030953 0.00002
NM_001164508.2(NEB):c.7317G>A (p.Ser2439=) rs199977733 0.00002
NM_001164508.2(NEB):c.734G>T (p.Gly245Val) rs765569689 0.00002
NM_001164508.2(NEB):c.762G>A (p.Thr254=) rs770784055 0.00002
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958 0.00002
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=) rs753267809 0.00002
NM_001164508.2(NEB):c.7902G>T (p.Leu2634=) rs1213159316 0.00002
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln) rs772837483 0.00002
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=) rs746644593 0.00002
NM_001164508.2(NEB):c.8328C>T (p.Ala2776=) rs373449008 0.00002
NM_001164508.2(NEB):c.8556G>A (p.Val2852=) rs368155040 0.00002
NM_001164508.2(NEB):c.8589C>T (p.Ser2863=) rs560965487 0.00002
NM_001164508.2(NEB):c.8594T>C (p.Val2865Ala) rs754454398 0.00002
NM_001164508.2(NEB):c.8685+20A>C rs764128200 0.00002
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr) rs747466015 0.00002
NM_001164508.2(NEB):c.8823A>G (p.Lys2941=) rs367619283 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.8988C>T (p.Tyr2996=) rs1357442601 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.9125G>A (p.Cys3042Tyr) rs779603526 0.00002
NM_001164508.2(NEB):c.9133C>T (p.Leu3045Phe) rs533898172 0.00002
NM_001164508.2(NEB):c.9330T>C (p.Tyr3110=) rs770174001 0.00002
NM_001164508.2(NEB):c.9480T>C (p.Asp3160=) rs1475280445 0.00002
NM_001164508.2(NEB):c.9570T>C (p.Asp3190=) rs768613880 0.00002
NM_001164508.2(NEB):c.9619-20C>T rs778867943 0.00002
NM_001164508.2(NEB):c.9702G>A (p.Gln3234=) rs1231131080 0.00002
NM_001164508.2(NEB):c.9795C>T (p.Ile3265=) rs767234865 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.992C>G (p.Pro331Arg) rs763822076 0.00002
NM_001164508.2(NEB):c.9939G>C (p.Gln3313His) rs767908602 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_001164508.2(NEB):c.9972G>A (p.Lys3324=) rs747709979 0.00002
NM_001271208.2(NEB):c.17276del (p.Gln5759fs) rs1346554177 0.00002
NM_004543.4(NEB):c.-195C>T rs773435967 0.00002
NM_001164508.2(NEB):c.-167G>T rs886054948 0.00001
NM_001164508.2(NEB):c.10016T>G (p.Val3339Gly) rs778763661 0.00001
NM_001164508.2(NEB):c.10020A>G (p.Leu3340=) rs2098551175 0.00001
NM_001164508.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791 0.00001
NM_001164508.2(NEB):c.10050T>C (p.Asp3350=) rs372803182 0.00001
NM_001164508.2(NEB):c.10053G>A (p.Val3351=) rs573971577 0.00001
NM_001164508.2(NEB):c.10093G>A (p.Asp3365Asn) rs1181779285 0.00001
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg) rs372053480 0.00001
NM_001164508.2(NEB):c.10144-4C>G rs1362985863 0.00001
NM_001164508.2(NEB):c.10144-5T>C rs1454334128 0.00001
NM_001164508.2(NEB):c.10154A>G (p.Lys3385Arg) rs186278440 0.00001
NM_001164508.2(NEB):c.10166A>G (p.Gln3389Arg) rs2098541776 0.00001
NM_001164508.2(NEB):c.1019G>A (p.Gly340Asp) rs1228658263 0.00001
NM_001164508.2(NEB):c.10223A>G (p.Lys3408Arg) rs762891609 0.00001
NM_001164508.2(NEB):c.10257C>T (p.Tyr3419=) rs745900657 0.00001
NM_001164508.2(NEB):c.10312G>A (p.Val3438Met) rs746015217 0.00001
NM_001164508.2(NEB):c.10335C>G (p.Leu3445=) rs188127282 0.00001
NM_001164508.2(NEB):c.1035+8G>A rs755517435 0.00001
NM_001164508.2(NEB):c.10382C>A (p.Thr3461Asn) rs1003683269 0.00001
NM_001164508.2(NEB):c.10420T>C (p.Leu3474=) rs1057523427 0.00001
NM_001164508.2(NEB):c.10464T>C (p.Arg3488=) rs776681612 0.00001
NM_001164508.2(NEB):c.10504A>C (p.Arg3502=) rs1288766403 0.00001
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=) rs368803600 0.00001
NM_001164508.2(NEB):c.1056T>C (p.Tyr352=) rs1057523282 0.00001
NM_001164508.2(NEB):c.10623C>T (p.His3541=) rs753863257 0.00001
NM_001164508.2(NEB):c.10635G>A (p.Lys3545=) rs756424328 0.00001
NM_001164508.2(NEB):c.10683C>T (p.Tyr3561=) rs2098334069 0.00001
NM_001164508.2(NEB):c.10776C>T (p.Ser3592=) rs1004404650 0.00001
NM_001164508.2(NEB):c.10800G>A (p.Leu3600=) rs1189151767 0.00001
NM_001164508.2(NEB):c.10816C>T (p.Leu3606=) rs1188058379 0.00001
NM_001164508.2(NEB):c.10846C>T (p.Arg3616Trp) rs573036942 0.00001
NM_001164508.2(NEB):c.10856A>G (p.Tyr3619Cys) rs1049205301 0.00001
NM_001164508.2(NEB):c.1086T>C (p.Asn362=) rs780565107 0.00001
NM_001164508.2(NEB):c.10899G>A (p.Trp3633Ter) rs780343350 0.00001
NM_001164508.2(NEB):c.10910T>C (p.Ile3637Thr) rs2098276722 0.00001
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu) rs377027708 0.00001
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala) rs1316575607 0.00001
NM_001164508.2(NEB):c.10962A>G (p.Gly3654=) rs2098275422 0.00001
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His) rs1386975124 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.11037G>A (p.Glu3679=) rs886054942 0.00001
NM_001164508.2(NEB):c.11049A>G (p.Ala3683=) rs1373692135 0.00001
NM_001164508.2(NEB):c.11076+1G>A rs1460365350 0.00001
NM_001164508.2(NEB):c.11077-4G>A rs878924060 0.00001
NM_001164508.2(NEB):c.11124C>T (p.Val3708=) rs1381890849 0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=) rs547109690 0.00001
NM_001164508.2(NEB):c.11163C>T (p.Asn3721=) rs1387561363 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.1117A>G (p.Arg373Gly) rs778295273 0.00001
NM_001164508.2(NEB):c.11181+10_11181+11del rs779015676 0.00001
NM_001164508.2(NEB):c.11181+3A>G rs1448725511 0.00001
NM_001164508.2(NEB):c.1123C>T (p.Leu375=) rs561542607 0.00001
NM_001164508.2(NEB):c.11280T>A (p.Ile3760=) rs1203256202 0.00001
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg) rs761139484 0.00001
NM_001164508.2(NEB):c.11325C>T (p.Gly3775=) rs1451219883 0.00001
NM_001164508.2(NEB):c.11394C>T (p.Ile3798=) rs756403694 0.00001
NM_001164508.2(NEB):c.1140T>C (p.Asp380=) rs752553797 0.00001
NM_001164508.2(NEB):c.11421G>A (p.Glu3807=) rs1579378827 0.00001
NM_001164508.2(NEB):c.11427G>A (p.Glu3809=) rs762463190 0.00001
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00001
NM_001164508.2(NEB):c.11439C>A (p.Thr3813=) rs761510669 0.00001
NM_001164508.2(NEB):c.11460C>T (p.Asp3820=) rs1331418124 0.00001
NM_001164508.2(NEB):c.11475G>A (p.Val3825=) rs1489721073 0.00001
NM_001164508.2(NEB):c.114G>A (p.Arg38=) rs1578040445 0.00001
NM_001164508.2(NEB):c.11506G>A (p.Asp3836Asn) rs758723038 0.00001
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr) rs758723038 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.1153-2A>G rs1553609515 0.00001
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln) rs755390933 0.00001
NM_001164508.2(NEB):c.11541C>T (p.Thr3847=) rs758901873 0.00001
NM_001164508.2(NEB):c.11582C>T (p.Ala3861Val) rs773465698 0.00001
NM_001164508.2(NEB):c.11589C>T (p.Asp3863=) rs372772607 0.00001
NM_001164508.2(NEB):c.11670C>T (p.Val3890=) rs757703477 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.11773C>T (p.Leu3925=) rs1227597329 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.11806-20C>T rs367755249 0.00001
NM_001164508.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558 0.00001
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe) rs757175445 0.00001
NM_001164508.2(NEB):c.11862C>T (p.Asp3954=) rs1027329418 0.00001
NM_001164508.2(NEB):c.11883C>T (p.Ala3961=) rs1227394030 0.00001
NM_001164508.2(NEB):c.11884A>C (p.Lys3962Gln) rs1194302071 0.00001
NM_001164508.2(NEB):c.11893T>G (p.Ser3965Ala) rs1397887930 0.00001
NM_001164508.2(NEB):c.11922C>T (p.Thr3974=) rs1196381872 0.00001
NM_001164508.2(NEB):c.11946G>A (p.Met3982Ile) rs2097912146 0.00001
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838 0.00001
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val) rs1465332264 0.00001
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met) rs780157705 0.00001
NM_001164508.2(NEB):c.11988T>A (p.Ser3996Arg) rs1377623180 0.00001
NM_001164508.2(NEB):c.12005A>C (p.Asp4002Ala) rs1457058013 0.00001
NM_001164508.2(NEB):c.12018+7A>C rs372905711 0.00001
NM_001164508.2(NEB):c.12045A>G (p.Lys4015=) rs949086164 0.00001
NM_001164508.2(NEB):c.12132A>G (p.Glu4044=) rs1430100852 0.00001
NM_001164508.2(NEB):c.12141C>T (p.Tyr4047=) rs2097888256 0.00001
NM_001164508.2(NEB):c.12171G>T (p.Lys4057Asn) rs747847680 0.00001
NM_001164508.2(NEB):c.12176C>G (p.Ser4059Cys) rs1475951452 0.00001
NM_001164508.2(NEB):c.12192G>A (p.Met4064Ile) rs776639447 0.00001
NM_001164508.2(NEB):c.1221C>G (p.Phe407Leu) rs1033938609 0.00001
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=) rs752937326 0.00001
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr) rs557283717 0.00001
NM_001164508.2(NEB):c.12246T>C (p.Tyr4082=) rs892559887 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 0.00001
NM_001164508.2(NEB):c.12264A>G (p.Glu4088=) rs775530422 0.00001
NM_001164508.2(NEB):c.12270A>G (p.Thr4090=) rs1247368291 0.00001
NM_001164508.2(NEB):c.1227C>T (p.Leu409=) rs371658494 0.00001
NM_001164508.2(NEB):c.12300A>G (p.Gln4100=) rs757913260 0.00001
NM_001164508.2(NEB):c.12303A>C (p.Ala4101=) rs1553882764 0.00001
NM_001164508.2(NEB):c.12318C>T (p.Asp4106=) rs1209799302 0.00001
NM_001164508.2(NEB):c.12330+2T>C rs1374971806 0.00001
NM_001164508.2(NEB):c.1248C>T (p.Phe416=) rs1576714550 0.00001
NM_001164508.2(NEB):c.1257+7A>G rs756217803 0.00001
NM_001164508.2(NEB):c.12579C>T (p.Thr4193=) rs1384049532 0.00001
NM_001164508.2(NEB):c.1257T>G (p.Asp419Glu) rs549485763 0.00001
NM_001164508.2(NEB):c.1258-2A>G rs1553608621 0.00001
NM_001164508.2(NEB):c.1258-9G>T rs779907080 0.00001
NM_001164508.2(NEB):c.12639+2dup rs2097758186 0.00001
NM_001164508.2(NEB):c.1263A>G (p.Lys421=) rs371099860 0.00001
NM_001164508.2(NEB):c.12640-10C>T rs1264692800 0.00001
NM_001164508.2(NEB):c.1275C>T (p.Ser425=) rs1197676558 0.00001
NM_001164508.2(NEB):c.129G>A (p.Glu43=) rs1290183134 0.00001
NM_001164508.2(NEB):c.1305A>G (p.Val435=) rs564509638 0.00001
NM_001164508.2(NEB):c.13060-6A>G rs1195747738 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.13132A>G (p.Arg4378Gly) rs1189557869 0.00001
NM_001164508.2(NEB):c.1317G>A (p.Glu439=) rs776261033 0.00001
NM_001164508.2(NEB):c.13251A>C (p.Val4417=) rs1246456851 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.1365+5G>T rs1553607969 0.00001
NM_001164508.2(NEB):c.1366A>G (p.Lys456Glu) rs1484438248 0.00001
NM_001164508.2(NEB):c.1374C>T (p.Tyr458=) rs1362599473 0.00001
NM_001164508.2(NEB):c.1395C>T (p.Asp465=) rs759268469 0.00001
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val) rs772070576 0.00001
NM_001164508.2(NEB):c.1431A>G (p.Gln477=) rs372236577 0.00001
NM_001164508.2(NEB):c.1452A>G (p.Lys484=) rs2099602673 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.1470+2dup rs1477702016 0.00001
NM_001164508.2(NEB):c.1470C>T (p.Asp490=) rs778189876 0.00001
NM_001164508.2(NEB):c.1471-7C>T rs985833868 0.00001
NM_001164508.2(NEB):c.1478A>G (p.Tyr493Cys) rs1576674181 0.00001
NM_001164508.2(NEB):c.1479C>T (p.Tyr493=) rs2099599226 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1524T>C (p.Ser508=) rs1032729675 0.00001
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe) rs749473348 0.00001
NM_001164508.2(NEB):c.1561C>A (p.Leu521Met) rs750023832 0.00001
NM_001164508.2(NEB):c.1563G>A (p.Leu521=) rs765045777 0.00001
NM_001164508.2(NEB):c.1569+9C>T rs764085607 0.00001
NM_001164508.2(NEB):c.1570-18G>A rs1276051107 0.00001
NM_001164508.2(NEB):c.1570-2del rs2099590816 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.1614T>C (p.His538=) rs769074908 0.00001
NM_001164508.2(NEB):c.1617C>T (p.Ile539=) rs747500560 0.00001
NM_001164508.2(NEB):c.1620C>T (p.Pro540=) rs776014034 0.00001
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943 0.00001
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047 0.00001
NM_001164508.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle) rs746163908 0.00001
NM_001164508.2(NEB):c.1674+17C>T rs764386144 0.00001
NM_001164508.2(NEB):c.1674+1G>T rs750585238 0.00001
NM_001164508.2(NEB):c.1675-10T>C rs751475228 0.00001
NM_001164508.2(NEB):c.1675-13T>A rs780833404 0.00001
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val) rs761807814 0.00001
NM_001164508.2(NEB):c.16760G>A (p.Gly5587Glu) rs1243813979 0.00001
NM_001164508.2(NEB):c.16800C>A (p.Ile5600=) rs756461553 0.00001
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala) rs527672223 0.00001
NM_001164508.2(NEB):c.16815C>G (p.Val5605=) rs781623818 0.00001
NM_001164508.2(NEB):c.16824G>C (p.Thr5608=) rs531949723 0.00001
NM_001164508.2(NEB):c.168A>T (p.Ala56=) rs200297299 0.00001
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000 0.00001
NM_001164508.2(NEB):c.16967C>T (p.Thr5656Ile) rs1353681047 0.00001
NM_001164508.2(NEB):c.1698G>A (p.Glu566=) rs1242070276 0.00001
NM_001164508.2(NEB):c.17013+13A>G rs547891086 0.00001
NM_001164508.2(NEB):c.17013+20C>T rs1450483092 0.00001
NM_001164508.2(NEB):c.17013+3A>G rs200059848 0.00001
NM_001164508.2(NEB):c.17014-8C>T rs1056538048 0.00001
NM_001164508.2(NEB):c.17080A>G (p.Ile5694Val) rs1287787210 0.00001
NM_001164508.2(NEB):c.17114G>A (p.Ser5705Asn) rs1179251845 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.17127T>C (p.Tyr5709=) rs775004844 0.00001
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu) rs776095941 0.00001
NM_001164508.2(NEB):c.1718T>C (p.Phe573Ser) rs767710795 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.17208C>T (p.Leu5736=) rs1296709078 0.00001
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln) rs773983252 0.00001
NM_001164508.2(NEB):c.17247G>C (p.Leu5749=) rs564752449 0.00001
NM_001164508.2(NEB):c.17301C>A (p.Ile5767=) rs1310753005 0.00001
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077 0.00001
NM_001164508.2(NEB):c.1736C>T (p.Ala579Val) rs2099581961 0.00001
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr) rs780600292 0.00001
NM_001164508.2(NEB):c.17416G>A (p.Glu5806Lys) rs748311158 0.00001
NM_001164508.2(NEB):c.17427C>T (p.Ser5809=) rs781105258 0.00001
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178 0.00001
NM_001164508.2(NEB):c.17490C>T (p.Ser5830=) rs1290585048 0.00001
NM_001164508.2(NEB):c.17508C>G (p.Ala5836=) rs778186568 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.17573C>T (p.Thr5858Met) rs747699601 0.00001
NM_001164508.2(NEB):c.17599G>A (p.Val5867Met) rs1452637927 0.00001
NM_001164508.2(NEB):c.17606C>T (p.Ala5869Val) rs79205344 0.00001
NM_001164508.2(NEB):c.17607G>A (p.Ala5869=) rs761813976 0.00001
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp) rs769673154 0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996 0.00001
NM_001164508.2(NEB):c.17685A>C (p.Thr5895=) rs372024982 0.00001
NM_001164508.2(NEB):c.17728C>T (p.Leu5910=) rs756046096 0.00001
NM_001164508.2(NEB):c.17742C>T (p.Leu5914=) rs1157260383 0.00001
NM_001164508.2(NEB):c.1777A>G (p.Ser593Gly) rs200951652 0.00001
NM_001164508.2(NEB):c.17844+5T>C rs748989842 0.00001
NM_001164508.2(NEB):c.17871G>A (p.Lys5957=) rs1210227956 0.00001
NM_001164508.2(NEB):c.17880T>A (p.Gly5960=) rs776382772 0.00001
NM_001164508.2(NEB):c.17901G>A (p.Thr5967=) rs573047672 0.00001
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918 0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207 0.00001
NM_001164508.2(NEB):c.17979T>C (p.Tyr5993=) rs1221781863 0.00001
NM_001164508.2(NEB):c.18003T>C (p.Asn6001=) rs1428223666 0.00001
NM_001164508.2(NEB):c.18039G>A (p.Lys6013=) rs749434786 0.00001
NM_001164508.2(NEB):c.1803T>C (p.Tyr601=) rs775413813 0.00001
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060 0.00001
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser) rs1221212842 0.00001
NM_001164508.2(NEB):c.18087C>T (p.His6029=) rs758797066 0.00001
NM_001164508.2(NEB):c.180A>C (p.Pro60=) rs1247519619 0.00001
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=) rs1319860549 0.00001
NM_001164508.2(NEB):c.18165C>T (p.Tyr6055=) rs746376570 0.00001
NM_001164508.2(NEB):c.18168A>G (p.Arg6056=) rs756829657 0.00001
NM_001164508.2(NEB):c.18177G>A (p.Leu6059=) rs191083610 0.00001
NM_001164508.2(NEB):c.18216T>C (p.Ser6072=) rs766403385 0.00001
NM_001164508.2(NEB):c.18225T>C (p.His6075=) rs2096342918 0.00001
NM_001164508.2(NEB):c.18262-4A>C rs2096326829 0.00001
NM_001164508.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538 0.00001
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg) rs1166853973 0.00001
NM_001164508.2(NEB):c.18295C>T (p.Pro6099Ser) rs1269081768 0.00001
NM_001164508.2(NEB):c.18330T>G (p.Ile6110Met) rs2096323080 0.00001
NM_001164508.2(NEB):c.18366+15T>G rs377385674 0.00001
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=) rs1300207920 0.00001
NM_001164508.2(NEB):c.18384A>G (p.Thr6128=) rs1292894553 0.00001
NM_001164508.2(NEB):c.1839C>T (p.Ser613=) rs751976783 0.00001
NM_001164508.2(NEB):c.18425C>T (p.Thr6142Ile) rs377179553 0.00001
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr) rs1577779523 0.00001
NM_001164508.2(NEB):c.18472-4C>G rs756954250 0.00001
NM_001164508.2(NEB):c.1848C>T (p.Asp616=) rs530242068 0.00001
NM_001164508.2(NEB):c.1849del (p.Asp617fs) rs755531536 0.00001
NM_001164508.2(NEB):c.18504G>A (p.Lys6168=) rs766623941 0.00001
NM_001164508.2(NEB):c.18510T>C (p.Tyr6170=) rs1175502882 0.00001
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=) rs541088387 0.00001
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr) rs764500250 0.00001
NM_001164508.2(NEB):c.18543T>C (p.Ile6181=) rs1358467857 0.00001
NM_001164508.2(NEB):c.1854C>T (p.Pro618=) rs1469092630 0.00001
NM_001164508.2(NEB):c.18561T>C (p.Ala6187=) rs374949827 0.00001
NM_001164508.2(NEB):c.18568G>A (p.Val6190Met) rs770824743 0.00001
NM_001164508.2(NEB):c.18580-8C>T rs199894970 0.00001
NM_001164508.2(NEB):c.18588C>T (p.Tyr6196=) rs774109260 0.00001
NM_001164508.2(NEB):c.18590A>G (p.Lys6197Arg) rs770466680 0.00001
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu) rs764417105 0.00001
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser) rs1292580496 0.00001
NM_001164508.2(NEB):c.18639C>T (p.Ile6213=) rs534845823 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.18709C>G (p.His6237Asp) rs750141196 0.00001
NM_001164508.2(NEB):c.18738T>C (p.His6246=) rs1048795026 0.00001
NM_001164508.2(NEB):c.18762C>T (p.His6254=) rs748339284 0.00001
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met) rs781706876 0.00001
NM_001164508.2(NEB):c.18768G>C (p.Leu6256=) rs2096147822 0.00001
NM_001164508.2(NEB):c.18771T>G (p.Ala6257=) rs755307254 0.00001
NM_001164508.2(NEB):c.18811C>T (p.His6271Tyr) rs932662350 0.00001
NM_001164508.2(NEB):c.18831G>A (p.Thr6277=) rs368876425 0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851 0.00001
NM_001164508.2(NEB):c.1887C>T (p.Asn629=) rs748246603 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn) rs766403303 0.00001
NM_001164508.2(NEB):c.18942T>C (p.Val6314=) rs758600708 0.00001
NM_001164508.2(NEB):c.18996+10C>G rs772798498 0.00001
NM_001164508.2(NEB):c.18997-9T>C rs1377432083 0.00001
NM_001164508.2(NEB):c.19012G>A (p.Ala6338Thr) rs759946299 0.00001
NM_001164508.2(NEB):c.1902A>G (p.Leu634=) rs1284395966 0.00001
NM_001164508.2(NEB):c.19053C>T (p.Asp6351=) rs1201126048 0.00001
NM_001164508.2(NEB):c.1908G>A (p.Lys636=) rs780303181 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19102-8G>A rs768233572 0.00001
NM_001164508.2(NEB):c.19113A>G (p.Lys6371=) rs1416844553 0.00001
NM_001164508.2(NEB):c.19200C>T (p.Tyr6400=) rs762251090 0.00001
NM_001164508.2(NEB):c.19239A>G (p.Lys6413=) rs1430888861 0.00001
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=) rs773178453 0.00001
NM_001164508.2(NEB):c.192G>A (p.Lys64=) rs761189437 0.00001
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg) rs1015281617 0.00001
NM_001164508.2(NEB):c.19317C>T (p.Ile6439=) rs754491465 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.19372G>C (p.Val6458Leu) rs774608228 0.00001
NM_001164508.2(NEB):c.19389C>T (p.Asn6463=) rs375040433 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.19425C>T (p.Ile6475=) rs760688816 0.00001
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn) rs752626000 0.00001
NM_001164508.2(NEB):c.19428+9G>A rs770023245 0.00001
NM_001164508.2(NEB):c.1942A>T (p.Asn648Tyr) rs1553592578 0.00001
NM_001164508.2(NEB):c.1947C>T (p.Tyr649=) rs1476481410 0.00001
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923 0.00001
NM_001164508.2(NEB):c.1962A>G (p.Lys654=) rs373858974 0.00001
NM_001164508.2(NEB):c.19732-5G>A rs779841022 0.00001
NM_001164508.2(NEB):c.19796T>C (p.Val6599Ala) rs1238663844 0.00001
NM_001164508.2(NEB):c.19800C>T (p.Tyr6600=) rs552379239 0.00001
NM_001164508.2(NEB):c.19809T>C (p.Ala6603=) rs1011284732 0.00001
NM_001164508.2(NEB):c.19837-12T>C rs577874679 0.00001
NM_001164508.2(NEB):c.19856A>G (p.Tyr6619Cys) rs1367421575 0.00001
NM_001164508.2(NEB):c.19860G>A (p.Val6620=) rs754635980 0.00001
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu) rs765189771 0.00001
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn) rs534519331 0.00001
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688 0.00001
NM_001164508.2(NEB):c.19940G>T (p.Ser6647Ile) rs2095355799 0.00001
NM_001164508.2(NEB):c.19944+7A>G rs201751179 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.19958C>A (p.Thr6653Asn) rs1379492488 0.00001
NM_001164508.2(NEB):c.19959C>T (p.Thr6653=) rs758068690 0.00001
NM_001164508.2(NEB):c.19965G>A (p.Leu6655=) rs1312715025 0.00001
NM_001164508.2(NEB):c.19967G>A (p.Arg6656His) rs767200761 0.00001
NM_001164508.2(NEB):c.19971C>G (p.Thr6657=) rs1387509005 0.00001
NM_001164508.2(NEB):c.19974G>A (p.Leu6658=) rs1247188728 0.00001
NM_001164508.2(NEB):c.1998+15G>A rs62174730 0.00001
NM_001164508.2(NEB):c.1998+19A>G rs771280301 0.00001
NM_001164508.2(NEB):c.1998+4C>A rs763334937 0.00001
NM_001164508.2(NEB):c.1998+5G>A rs1015618560 0.00001
NM_001164508.2(NEB):c.1999-10T>C rs2099556454 0.00001
NM_001164508.2(NEB):c.19998T>C (p.Gly6666=) rs766522842 0.00001
NM_001164508.2(NEB):c.1999G>A (p.Ala667Thr) rs750186349 0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.20040G>C (p.Met6680Ile) rs368883773 0.00001
NM_001164508.2(NEB):c.20052C>A (p.Phe6684Leu) rs750704829 0.00001
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685 0.00001
NM_001164508.2(NEB):c.20122G>T (p.Val6708Phe) rs1312710050 0.00001
NM_001164508.2(NEB):c.20150C>T (p.Thr6717Ile) rs753992038 0.00001
NM_001164508.2(NEB):c.20151C>T (p.Thr6717=) rs764509356 0.00001
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys) rs767886794 0.00001
NM_001164508.2(NEB):c.2015T>C (p.Leu672Ser) rs765225625 0.00001
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr) rs199722285 0.00001
NM_001164508.2(NEB):c.20230C>A (p.Gln6744Lys) rs766890449 0.00001
NM_001164508.2(NEB):c.20258G>A (p.Ser6753Asn) rs2094881047 0.00001
NM_001164508.2(NEB):c.2025G>A (p.Lys675=) rs1329950628 0.00001
NM_001164508.2(NEB):c.20268C>A (p.Ile6756=) rs1433355738 0.00001
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val) rs372042301 0.00001
NM_001164508.2(NEB):c.20298C>G (p.Gly6766=) rs747134879 0.00001
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626 0.00001
NM_001164508.2(NEB):c.20360C>T (p.Thr6787Ile) rs370099071 0.00001
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711 0.00001
NM_001164508.2(NEB):c.2037A>G (p.Gly679=) rs770276905 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.20430T>C (p.Pro6810=) rs373276952 0.00001
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile) rs951646007 0.00001
NM_001164508.2(NEB):c.20467-20T>G rs1323641166 0.00001
NM_001164508.2(NEB):c.20503C>T (p.Arg6835Ter) rs370098540 0.00001
NM_001164508.2(NEB):c.20504G>A (p.Arg6835Gln) rs201001168 0.00001
NM_001164508.2(NEB):c.20508C>T (p.Asp6836=) rs2094611028 0.00001
NM_001164508.2(NEB):c.2053A>G (p.Met685Val) rs370986655 0.00001
NM_001164508.2(NEB):c.20577+2T>C rs1185654671 0.00001
NM_001164508.2(NEB):c.20577+9G>A rs754392310 0.00001
NM_001164508.2(NEB):c.20578-9T>C rs2094070540 0.00001
NM_001164508.2(NEB):c.20616C>A (p.Ile6872=) rs563768825 0.00001
NM_001164508.2(NEB):c.20640T>G (p.Pro6880=) rs748105415 0.00001
NM_001164508.2(NEB):c.20712G>A (p.Glu6904=) rs755542829 0.00001
NM_001164508.2(NEB):c.20727C>T (p.His6909=) rs779779886 0.00001
NM_001164508.2(NEB):c.20736C>T (p.Asn6912=) rs1384813528 0.00001
NM_001164508.2(NEB):c.20745A>T (p.Thr6915=) rs931241996 0.00001
NM_001164508.2(NEB):c.20767G>A (p.Val6923Met) rs753673376 0.00001
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123 0.00001
NM_001164508.2(NEB):c.20787+2T>C rs1337287633 0.00001
NM_001164508.2(NEB):c.20831C>T (p.Thr6944Ile) rs763942330 0.00001
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met) rs767461697 0.00001
NM_001164508.2(NEB):c.20883T>C (p.Asn6961=) rs576660293 0.00001
NM_001164508.2(NEB):c.20893-4C>T rs755711568 0.00001
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His) rs767230683 0.00001
NM_001164508.2(NEB):c.2089G>T (p.Ala697Ser) rs1317564549 0.00001
NM_001164508.2(NEB):c.20925A>G (p.Lys6975=) rs2093498757 0.00001
NM_001164508.2(NEB):c.20939C>T (p.Thr6980Met) rs776806977 0.00001
NM_001164508.2(NEB):c.20955A>T (p.Leu6985=) rs774687489 0.00001
NM_001164508.2(NEB):c.20958C>T (p.Asp6986=) rs748770036 0.00001
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys) rs901568718 0.00001
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile) rs779881258 0.00001
NM_001164508.2(NEB):c.20998-7A>C rs1408680616 0.00001
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser) rs770240346 0.00001
NM_001164508.2(NEB):c.2103T>C (p.Ser701=) rs535236430 0.00001
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=) rs778067687 0.00001
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=) rs767655200 0.00001
NM_001164508.2(NEB):c.21075C>T (p.His7025=) rs1458419547 0.00001
NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln) rs1487630736 0.00001
NM_001164508.2(NEB):c.21103-5C>T rs1331120255 0.00001
NM_001164508.2(NEB):c.21105A>G (p.Val7035=) rs906097458 0.00001
NM_001164508.2(NEB):c.2112T>C (p.Ser704=) rs776853993 0.00001
NM_001164508.2(NEB):c.21144T>A (p.Gly7048=) rs2093339533 0.00001
NM_001164508.2(NEB):c.21162C>T (p.Thr7054=) rs766718173 0.00001
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113 0.00001
NM_001164508.2(NEB):c.21208-9T>G rs757819342 0.00001
NM_001164508.2(NEB):c.21209A>G (p.Tyr7070Cys) rs754366347 0.00001
NM_001164508.2(NEB):c.21269C>T (p.Pro7090Leu) rs752467283 0.00001
NM_001164508.2(NEB):c.21301T>C (p.Leu7101=) rs779321362 0.00001
NM_001164508.2(NEB):c.21312+5G>A rs778363526 0.00001
NM_001164508.2(NEB):c.21312+8T>A rs756535543 0.00001
NM_001164508.2(NEB):c.2135A>T (p.Asp712Val) rs563934691 0.00001
NM_001164508.2(NEB):c.213C>T (p.Val71=) rs745325085 0.00001
NM_001164508.2(NEB):c.2154C>T (p.Phe718=) rs1165258877 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.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.2217C>T (p.Thr739=) rs1298727978 0.00001
NM_001164508.2(NEB):c.2259T>C (p.Thr753=) rs764355001 0.00001
NM_001164508.2(NEB):c.2306G>A (p.Ser769Asn) rs534124991 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.2415+13G>A rs775842716 0.00001
NM_001164508.2(NEB):c.2415+2T>C rs1057517399 0.00001
NM_001164508.2(NEB):c.2437G>A (p.Glu813Lys) rs752442261 0.00001
NM_001164508.2(NEB):c.2442G>A (p.Lys814=) rs538990928 0.00001
NM_001164508.2(NEB):c.2454G>A (p.Lys818=) rs1238118025 0.00001
NM_001164508.2(NEB):c.2488T>C (p.Leu830=) rs747186813 0.00001
NM_001164508.2(NEB):c.249C>T (p.Thr83=) rs200936927 0.00001
NM_001164508.2(NEB):c.2520C>T (p.Ser840=) rs757826030 0.00001
NM_001164508.2(NEB):c.2523+5G>C rs755864993 0.00001
NM_001164508.2(NEB):c.2533A>G (p.Lys845Glu) rs772154599 0.00001
NM_001164508.2(NEB):c.2579G>A (p.Ser860Asn) rs1368018193 0.00001
NM_001164508.2(NEB):c.2593C>T (p.Pro865Ser) rs751373246 0.00001
NM_001164508.2(NEB):c.2648G>A (p.Arg883Gln) rs751875993 0.00001
NM_001164508.2(NEB):c.2700C>T (p.Leu900=) rs2099481133 0.00001
NM_001164508.2(NEB):c.2742C>T (p.Asp914=) rs766761991 0.00001
NM_001164508.2(NEB):c.2748T>C (p.Asp916=) rs765482394 0.00001
NM_001164508.2(NEB):c.2755C>G (p.His919Asp) rs373168257 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.2892T>C (p.Phe964=) rs762595663 0.00001
NM_001164508.2(NEB):c.2909A>T (p.Glu970Val) rs1337927808 0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666 0.00001
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712 0.00001
NM_001164508.2(NEB):c.2930A>G (p.Asp977Gly) rs1414304435 0.00001
NM_001164508.2(NEB):c.2931C>T (p.Asp977=) rs1576205507 0.00001
NM_001164508.2(NEB):c.2939A>G (p.Asn980Ser) rs778993104 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.2943+1G>A rs113091511 0.00001
NM_001164508.2(NEB):c.2946A>G (p.Lys982=) rs749332680 0.00001
NM_001164508.2(NEB):c.295-2A>G rs1428300892 0.00001
NM_001164508.2(NEB):c.2954G>A (p.Arg985His) rs769987120 0.00001
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala) rs1043417027 0.00001
NM_001164508.2(NEB):c.2979T>C (p.Phe993=) rs780408206 0.00001
NM_001164508.2(NEB):c.2985G>A (p.Ser995=) rs574544074 0.00001
NM_001164508.2(NEB):c.2994T>C (p.Asp998=) rs1278192732 0.00001
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser) rs763910385 0.00001
NM_001164508.2(NEB):c.3042+8T>C rs190108219 0.00001
NM_001164508.2(NEB):c.3043-16T>A rs767501380 0.00001
NM_001164508.2(NEB):c.3077A>G (p.His1026Arg) rs377244662 0.00001
NM_001164508.2(NEB):c.3078C>T (p.His1026=) rs768759490 0.00001
NM_001164508.2(NEB):c.3105C>T (p.Pro1035=) rs778589014 0.00001
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly) rs748741238 0.00001
NM_001164508.2(NEB):c.3132C>T (p.Ala1044=) rs1576093509 0.00001
NM_001164508.2(NEB):c.3147+18C>T rs369903833 0.00001
NM_001164508.2(NEB):c.3155A>G (p.Tyr1052Cys) rs758214665 0.00001
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=) rs1448712345 0.00001
NM_001164508.2(NEB):c.3168G>T (p.Leu1056Phe) rs1254743889 0.00001
NM_001164508.2(NEB):c.3207T>G (p.Asp1069Glu) rs1419430871 0.00001
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp) rs574309369 0.00001
NM_001164508.2(NEB):c.3224C>T (p.Ala1075Val) rs574309369 0.00001
NM_001164508.2(NEB):c.3240G>A (p.Arg1080=) rs376636568 0.00001
NM_001164508.2(NEB):c.3248C>T (p.Ala1083Val) rs532130242 0.00001
NM_001164508.2(NEB):c.3249G>A (p.Ala1083=) rs901066301 0.00001
NM_001164508.2(NEB):c.3255+2dup rs1276026682 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.3349G>A (p.Val1117Met) rs1404806019 0.00001
NM_001164508.2(NEB):c.334C>A (p.Pro112Thr) rs369292364 0.00001
NM_001164508.2(NEB):c.3371G>A (p.Arg1124Gln) rs750762588 0.00001
NM_001164508.2(NEB):c.3372G>A (p.Arg1124=) rs779300537 0.00001
NM_001164508.2(NEB):c.3373G>C (p.Glu1125Gln) rs757784515 0.00001
NM_001164508.2(NEB):c.3379A>G (p.Lys1127Glu) rs1180667550 0.00001
NM_001164508.2(NEB):c.3390T>C (p.Tyr1130=) rs767079113 0.00001
NM_001164508.2(NEB):c.33G>A (p.Val11=) rs1269024269 0.00001
NM_001164508.2(NEB):c.3435T>C (p.Asn1145=) rs376524766 0.00001
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met) rs757659868 0.00001
NM_001164508.2(NEB):c.3516T>G (p.Pro1172=) rs1471310622 0.00001
NM_001164508.2(NEB):c.3519C>T (p.Asp1173=) rs376512820 0.00001
NM_001164508.2(NEB):c.3532G>A (p.Glu1178Lys) rs774703099 0.00001
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val) rs371816204 0.00001
NM_001164508.2(NEB):c.3568-10A>G rs774345653 0.00001
NM_001164508.2(NEB):c.3568-6C>T rs1296240815 0.00001
NM_001164508.2(NEB):c.3633C>T (p.Leu1211=) rs766661319 0.00001
NM_001164508.2(NEB):c.3679A>C (p.Lys1227Gln) rs769891018 0.00001
NM_001164508.2(NEB):c.3684C>T (p.Tyr1228=) rs2099380911 0.00001
NM_001164508.2(NEB):c.3687G>A (p.Arg1229=) rs2099380866 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.37-8A>G rs770174815 0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.3756C>T (p.Asn1252=) rs755915064 0.00001
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330 0.00001
NM_001164508.2(NEB):c.3774+9A>G rs777079728 0.00001
NM_001164508.2(NEB):c.3774T>C (p.Asp1258=) rs761903657 0.00001
NM_001164508.2(NEB):c.3775-8T>C rs1470998589 0.00001
NM_001164508.2(NEB):c.3780A>G (p.Leu1260=) rs747924696 0.00001
NM_001164508.2(NEB):c.3816C>T (p.Tyr1272=) rs765183358 0.00001
NM_001164508.2(NEB):c.3867C>T (p.Tyr1289=) rs1010944283 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.390T>A (p.Asp130Glu) rs2099787749 0.00001
NM_001164508.2(NEB):c.3969G>A (p.Ser1323=) rs933068354 0.00001
NM_001164508.2(NEB):c.3987T>C (p.Asp1329=) rs764778381 0.00001
NM_001164508.2(NEB):c.3988-15A>G rs1159293402 0.00001
NM_001164508.2(NEB):c.3995A>G (p.Tyr1332Cys) rs770929631 0.00001
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr) rs1219059740 0.00001
NM_001164508.2(NEB):c.4020G>A (p.Lys1340=) rs776811136 0.00001
NM_001164508.2(NEB):c.4060A>G (p.Lys1354Glu) rs371454282 0.00001
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser) rs774219262 0.00001
NM_001164508.2(NEB):c.408G>A (p.Lys136=) rs781228798 0.00001
NM_001164508.2(NEB):c.4094A>T (p.Gln1365Leu) rs375155384 0.00001
NM_001164508.2(NEB):c.4102C>T (p.Arg1368Cys) rs772128314 0.00001
NM_001164508.2(NEB):c.4109A>G (p.Tyr1370Cys) rs1230970164 0.00001
NM_001164508.2(NEB):c.4122T>C (p.Tyr1374=) rs778135952 0.00001
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln) rs747423578 0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn) rs534646949 0.00001
NM_001164508.2(NEB):c.4218A>G (p.Lys1406=) rs754513702 0.00001
NM_001164508.2(NEB):c.4227G>A (p.Leu1409=) rs1414666715 0.00001
NM_001164508.2(NEB):c.4229A>G (p.His1410Arg) rs758328454 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.4243C>T (p.Leu1415=) rs749514411 0.00001
NM_001164508.2(NEB):c.4299+9G>A rs746505680 0.00001
NM_001164508.2(NEB):c.4326C>T (p.Ser1442=) rs1196827078 0.00001
NM_001164508.2(NEB):c.4337G>A (p.Gly1446Asp) rs541803470 0.00001
NM_001164508.2(NEB):c.4375A>G (p.Lys1459Glu) rs371542110 0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=) rs755877926 0.00001
NM_001164508.2(NEB):c.4443C>T (p.Phe1481=) rs764603716 0.00001
NM_001164508.2(NEB):c.4478C>T (p.Ala1493Val) rs772819515 0.00001
NM_001164508.2(NEB):c.447C>T (p.His149=) rs2099785791 0.00001
NM_001164508.2(NEB):c.4485T>C (p.His1495=) rs781005189 0.00001
NM_001164508.2(NEB):c.4507-3T>C rs747017871 0.00001
NM_001164508.2(NEB):c.452A>T (p.Asp151Val) rs2099785772 0.00001
NM_001164508.2(NEB):c.453T>C (p.Asp151=) rs759482454 0.00001
NM_001164508.2(NEB):c.4555G>A (p.Asp1519Asn) rs781655186 0.00001
NM_001164508.2(NEB):c.4596C>T (p.Ala1532=) rs1258108366 0.00001
NM_001164508.2(NEB):c.4611+10T>C rs1400897392 0.00001
NM_001164508.2(NEB):c.4653C>G (p.Gly1551=) rs1471553322 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.4693A>G (p.Lys1565Glu) rs767580883 0.00001
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp) rs751602407 0.00001
NM_001164508.2(NEB):c.4740C>T (p.Tyr1580=) rs766168868 0.00001
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser) rs772492791 0.00001
NM_001164508.2(NEB):c.4839G>A (p.Glu1613=) rs762749537 0.00001
NM_001164508.2(NEB):c.4859C>T (p.Ala1620Val) rs2099215851 0.00001
NM_001164508.2(NEB):c.4877A>G (p.His1626Arg) rs1374856817 0.00001
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile) rs1575593044 0.00001
NM_001164508.2(NEB):c.4896C>G (p.Val1632=) rs373861490 0.00001
NM_001164508.2(NEB):c.4939G>A (p.Ala1647Thr) rs566604130 0.00001
NM_001164508.2(NEB):c.4941C>T (p.Ala1647=) rs936549495 0.00001
NM_001164508.2(NEB):c.4958A>G (p.Tyr1653Cys) rs921123148 0.00001
NM_001164508.2(NEB):c.4968C>T (p.Tyr1656=) rs766716265 0.00001
NM_001164508.2(NEB):c.4983T>C (p.Asp1661=) rs1420378434 0.00001
NM_001164508.2(NEB):c.5032-20T>A rs775020469 0.00001
NM_001164508.2(NEB):c.5049C>G (p.Asp1683Glu) rs777670525 0.00001
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp) rs369533357 0.00001
NM_001164508.2(NEB):c.508-6G>C rs374227241 0.00001
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596 0.00001
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp) rs1349969572 0.00001
NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu) rs971655417 0.00001
NM_001164508.2(NEB):c.5184C>T (p.Ala1728=) rs756600687 0.00001
NM_001164508.2(NEB):c.5239-6T>C rs1390540636 0.00001
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys) rs1306269352 0.00001
NM_001164508.2(NEB):c.533A>G (p.Asp178Gly) rs779306921 0.00001
NM_001164508.2(NEB):c.5344-1G>C rs1197561990 0.00001
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039 0.00001
NM_001164508.2(NEB):c.5382A>G (p.Lys1794=) rs2099187809 0.00001
NM_001164508.2(NEB):c.53T>C (p.Val18Ala) rs781637539 0.00001
NM_001164508.2(NEB):c.5403T>C (p.Asp1801=) rs1485835913 0.00001
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly) rs1466182533 0.00001
NM_001164508.2(NEB):c.5452-10C>T rs755973658 0.00001
NM_001164508.2(NEB):c.5469C>T (p.Ala1823=) rs1558984420 0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156 0.00001
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=) rs201539560 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.5577G>A (p.Lys1859=) rs751519609 0.00001
NM_001164508.2(NEB):c.5579A>G (p.Lys1860Arg) rs766275101 0.00001
NM_001164508.2(NEB):c.5649G>A (p.Lys1883=) rs371670376 0.00001
NM_001164508.2(NEB):c.5652T>C (p.Ser1884=) rs1296464678 0.00001
NM_001164508.2(NEB):c.5688G>T (p.Val1896=) rs766626019 0.00001
NM_001164508.2(NEB):c.5709T>C (p.Leu1903=) rs1472831605 0.00001
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr) rs763408172 0.00001
NM_001164508.2(NEB):c.5763+5G>A rs776167256 0.00001
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg) rs755003638 0.00001
NM_001164508.2(NEB):c.576T>C (p.Leu192=) rs755554259 0.00001
NM_001164508.2(NEB):c.5781C>T (p.Asp1927=) rs369420467 0.00001
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355 0.00001
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter) rs1032240985 0.00001
NM_001164508.2(NEB):c.5827C>T (p.Leu1943=) rs773023806 0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=) rs757546480 0.00001
NM_001164508.2(NEB):c.5866A>C (p.Ser1956Arg) rs1258945263 0.00001
NM_001164508.2(NEB):c.5912C>T (p.Thr1971Ile) rs762592136 0.00001
NM_001164508.2(NEB):c.5916C>T (p.Leu1972=) rs760841004 0.00001
NM_001164508.2(NEB):c.5972A>G (p.His1991Arg) rs750070644 0.00001
NM_001164508.2(NEB):c.597C>T (p.Thr199=) rs762852030 0.00001
NM_001164508.2(NEB):c.600C>T (p.Ala200=) rs760791605 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.6033C>T (p.Pro2011=) rs773482640 0.00001
NM_001164508.2(NEB):c.6043T>C (p.Leu2015=) rs748458556 0.00001
NM_001164508.2(NEB):c.6066T>C (p.Asn2022=) rs1403762968 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.6117C>A (p.Gly2039=) rs1230322271 0.00001
NM_001164508.2(NEB):c.6219G>A (p.Gly2073=) rs960591817 0.00001
NM_001164508.2(NEB):c.6227T>A (p.Val2076Asp) rs1031350120 0.00001
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys) rs753064438 0.00001
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile) rs747729019 0.00001
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp) rs756398214 0.00001
NM_001164508.2(NEB):c.6318T>C (p.Tyr2106=) rs766947078 0.00001
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr) rs756130763 0.00001
NM_001164508.2(NEB):c.6389C>A (p.Ala2130Asp) rs185740450 0.00001
NM_001164508.2(NEB):c.6417C>T (p.His2139=) rs750952879 0.00001
NM_001164508.2(NEB):c.6432C>T (p.Tyr2144=) rs764868660 0.00001
NM_001164508.2(NEB):c.6447T>C (p.Asp2149=) rs760492368 0.00001
NM_001164508.2(NEB):c.6468C>G (p.Thr2156=) rs939177563 0.00001
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser) rs774148469 0.00001
NM_001164508.2(NEB):c.6489G>A (p.Gln2163=) rs747215131 0.00001
NM_001164508.2(NEB):c.6496-7T>C rs760365522 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.6526T>G (p.Tyr2176Asp) rs776624491 0.00001
NM_001164508.2(NEB):c.652T>G (p.Phe218Val) rs1347757687 0.00001
NM_001164508.2(NEB):c.6530A>G (p.Lys2177Arg) rs768844040 0.00001
NM_001164508.2(NEB):c.6559C>T (p.Leu2187=) rs369413888 0.00001
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser) rs1369530664 0.00001
NM_001164508.2(NEB):c.6646C>T (p.Leu2216=) rs779191300 0.00001
NM_001164508.2(NEB):c.6664A>G (p.Met2222Val) rs201167928 0.00001
NM_001164508.2(NEB):c.66G>A (p.Glu22=) rs779531608 0.00001
NM_001164508.2(NEB):c.6702+8G>A rs780650914 0.00001
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu) rs765096308 0.00001
NM_001164508.2(NEB):c.6759T>C (p.Asp2253=) rs1447374947 0.00001
NM_001164508.2(NEB):c.6767A>G (p.Asp2256Gly) rs373713314 0.00001
NM_001164508.2(NEB):c.6795A>G (p.Thr2265=) rs777055902 0.00001
NM_001164508.2(NEB):c.6806A>G (p.Gln2269Arg) rs768068829 0.00001
NM_001164508.2(NEB):c.6808-5T>C rs887525004 0.00001
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys) rs762107662 0.00001
NM_001164508.2(NEB):c.6822T>G (p.Leu2274=) rs1002275178 0.00001
NM_001164508.2(NEB):c.6840G>A (p.Leu2280=) rs771466059 0.00001
NM_001164508.2(NEB):c.6851A>G (p.Tyr2284Cys) rs778637750 0.00001
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr) rs777601721 0.00001
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192 0.00001
NM_001164508.2(NEB):c.6876T>C (p.Ser2292=) rs1307944333 0.00001
NM_001164508.2(NEB):c.6882G>A (p.Gln2294=) rs780247638 0.00001
NM_001164508.2(NEB):c.6933C>T (p.Gly2311=) rs1156601950 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln) rs369456343 0.00001
NM_001164508.2(NEB):c.6986C>T (p.Pro2329Leu) rs201154794 0.00001
NM_001164508.2(NEB):c.6987A>G (p.Pro2329=) rs2099021147 0.00001
NM_001164508.2(NEB):c.6994G>C (p.Val2332Leu) rs1281747723 0.00001
NM_001164508.2(NEB):c.6A>T (p.Ala2=) rs778187569 0.00001
NM_001164508.2(NEB):c.7016A>G (p.Lys2339Arg) rs1452924362 0.00001
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667 0.00001
NM_001164508.2(NEB):c.7041G>A (p.Lys2347=) rs768624001 0.00001
NM_001164508.2(NEB):c.7090T>C (p.Leu2364=) rs2099020733 0.00001
NM_001164508.2(NEB):c.7123T>C (p.Leu2375=) rs373895191 0.00001
NM_001164508.2(NEB):c.718-6C>T rs371791129 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.7228-5C>T rs773213959 0.00001
NM_001164508.2(NEB):c.7245C>T (p.Asp2415=) rs769167022 0.00001
NM_001164508.2(NEB):c.7248T>C (p.Leu2416=) rs1313347497 0.00001
NM_001164508.2(NEB):c.7273A>T (p.Ser2425Cys) rs758881101 0.00001
NM_001164508.2(NEB):c.7316C>T (p.Ser2439Leu) rs774282909 0.00001
NM_001164508.2(NEB):c.7350T>C (p.Pro2450=) rs2099016597 0.00001
NM_001164508.2(NEB):c.7353A>C (p.Pro2451=) rs747213004 0.00001
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=) rs1318587515 0.00001
NM_001164508.2(NEB):c.7385C>G (p.Ala2462Gly) rs1377026295 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.7435C>T (p.Leu2479Phe) rs1426898110 0.00001
NM_001164508.2(NEB):c.7437T>G (p.Leu2479=) rs2098955228 0.00001
NM_001164508.2(NEB):c.7455C>T (p.Asp2485=) rs1252087959 0.00001
NM_001164508.2(NEB):c.7465A>G (p.Thr2489Ala) rs1321334284 0.00001
NM_001164508.2(NEB):c.7473C>A (p.Ile2491=) rs760783298 0.00001
NM_001164508.2(NEB):c.7537-5A>T rs1364472047 0.00001
NM_001164508.2(NEB):c.7547G>A (p.Arg2516Gln) rs753647278 0.00001
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr) rs375216853 0.00001
NM_001164508.2(NEB):c.761C>T (p.Thr254Met) rs376835458 0.00001
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln) rs758589097 0.00001
NM_001164508.2(NEB):c.7644+10T>C rs765507331 0.00001
NM_001164508.2(NEB):c.7645-7T>C rs2098922735 0.00001
NM_001164508.2(NEB):c.7661G>A (p.Gly2554Asp) rs770338556 0.00001
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val) rs1334008702 0.00001
NM_001164508.2(NEB):c.7704T>C (p.Ile2568=) rs1441930348 0.00001
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063 0.00001
NM_001164508.2(NEB):c.7767C>T (p.Tyr2589=) rs759056844 0.00001
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys) rs377602828 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.7833G>A (p.Leu2611=) rs745898708 0.00001
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr) rs779023599 0.00001
NM_001164508.2(NEB):c.7854A>G (p.Leu2618=) rs370074798 0.00001
NM_001164508.2(NEB):c.7863C>T (p.Asp2621=) rs1419803549 0.00001
NM_001164508.2(NEB):c.7881C>T (p.Tyr2627=) rs761549144 0.00001
NM_001164508.2(NEB):c.7908C>T (p.Asp2636=) rs774348830 0.00001
NM_001164508.2(NEB):c.7911G>C (p.Gln2637His) rs771035225 0.00001
NM_001164508.2(NEB):c.7935G>A (p.Gln2645=) rs1488960348 0.00001
NM_001164508.2(NEB):c.7956+18C>A rs775427411 0.00001
NM_001164508.2(NEB):c.7971A>C (p.Ser2657=) rs778368661 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001164508.2(NEB):c.8031A>G (p.Lys2677=) rs1417094848 0.00001
NM_001164508.2(NEB):c.8066T>C (p.Val2689Ala) rs1241788939 0.00001
NM_001164508.2(NEB):c.8122A>G (p.Met2708Val) rs752579656 0.00001
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888 0.00001
NM_001164508.2(NEB):c.8161-7C>T rs113643881 0.00001
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His) rs753996512 0.00001
NM_001164508.2(NEB):c.823-6T>C rs2099741813 0.00001
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His) rs548343514 0.00001
NM_001164508.2(NEB):c.8266-20A>C rs1241056840 0.00001
NM_001164508.2(NEB):c.8266-7A>G rs767688886 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.8406C>T (p.Leu2802=) rs377170982 0.00001
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met) rs757497327 0.00001
NM_001164508.2(NEB):c.8487C>T (p.Asp2829=) rs1243027424 0.00001
NM_001164508.2(NEB):c.8514G>A (p.Lys2838=) rs762688885 0.00001
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu) rs765207403 0.00001
NM_001164508.2(NEB):c.8545A>T (p.Met2849Leu) rs764499750 0.00001
NM_001164508.2(NEB):c.8562G>A (p.Leu2854=) rs1432111491 0.00001
NM_001164508.2(NEB):c.8571G>A (p.Lys2857=) rs774580339 0.00001
NM_001164508.2(NEB):c.8601C>T (p.Tyr2867=) rs1286220682 0.00001
NM_001164508.2(NEB):c.8634C>T (p.Pro2878=) rs776571715 0.00001
NM_001164508.2(NEB):c.8688T>C (p.Asn2896=) rs1193832355 0.00001
NM_001164508.2(NEB):c.8769G>A (p.Arg2923=) rs768835450 0.00001
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=) rs761257246 0.00001
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser) rs200672688 0.00001
NM_001164508.2(NEB):c.8850A>G (p.Glu2950=) rs1358258182 0.00001
NM_001164508.2(NEB):c.8857T>C (p.Leu2953=) rs1472426256 0.00001
NM_001164508.2(NEB):c.8859G>A (p.Leu2953=) rs753947526 0.00001
NM_001164508.2(NEB):c.885T>C (p.Phe295=) rs1286722317 0.00001
NM_001164508.2(NEB):c.8862C>T (p.Ala2954=) rs1487319364 0.00001
NM_001164508.2(NEB):c.8880T>C (p.Thr2960=) rs770284551 0.00001
NM_001164508.2(NEB):c.8886C>T (p.Asn2962=) rs772691488 0.00001
NM_001164508.2(NEB):c.8890-5G>T rs754118814 0.00001
NM_001164508.2(NEB):c.8893T>C (p.Leu2965=) rs1430569195 0.00001
NM_001164508.2(NEB):c.8943A>G (p.Pro2981=) rs1308710342 0.00001
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=) rs774786443 0.00001
NM_001164508.2(NEB):c.894A>G (p.Ala298=) rs202159633 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.901A>G (p.Arg301Gly) rs756396449 0.00001
NM_001164508.2(NEB):c.9051C>T (p.Ser3017=) rs777722290 0.00001
NM_001164508.2(NEB):c.9064A>G (p.Ile3022Val) rs2098761523 0.00001
NM_001164508.2(NEB):c.9102+17A>G rs775780099 0.00001
NM_001164508.2(NEB):c.9103-20T>C rs747252722 0.00001
NM_001164508.2(NEB):c.9103-7A>G rs776689414 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.9228A>G (p.Lys3076=) rs766158874 0.00001
NM_001164508.2(NEB):c.9267A>G (p.Pro3089=) rs1375156229 0.00001
NM_001164508.2(NEB):c.927+10G>A rs1328277826 0.00001
NM_001164508.2(NEB):c.928-1G>A rs1162553327 0.00001
NM_001164508.2(NEB):c.928-8T>C rs1264161666 0.00001
NM_001164508.2(NEB):c.9289C>T (p.Leu3097=) rs772392292 0.00001
NM_001164508.2(NEB):c.9309C>A (p.Thr3103=) rs1042135615 0.00001
NM_001164508.2(NEB):c.9318T>C (p.Ser3106=) rs1269187999 0.00001
NM_001164508.2(NEB):c.9321C>T (p.Asp3107=) rs749837540 0.00001
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283 0.00001
NM_001164508.2(NEB):c.9342G>A (p.Leu3114=) rs1158802718 0.00001
NM_001164508.2(NEB):c.934T>C (p.Tyr312His) rs1031048700 0.00001
NM_001164508.2(NEB):c.9372C>T (p.Ser3124=) rs768098141 0.00001
NM_001164508.2(NEB):c.9375T>C (p.Asp3125=) rs1006737950 0.00001
NM_001164508.2(NEB):c.9381C>A (p.Ile3127=) rs2098709812 0.00001
NM_001164508.2(NEB):c.9414+10G>A rs1175931667 0.00001
NM_001164508.2(NEB):c.9414+13T>C rs1315167999 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NM_001164508.2(NEB):c.9415-5C>T rs776956299 0.00001
NM_001164508.2(NEB):c.9419T>C (p.Ile3140Thr) rs774964206 0.00001
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138 0.00001
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219 0.00001
NM_001164508.2(NEB):c.9483G>A (p.Val3161=) rs1369814853 0.00001
NM_001164508.2(NEB):c.9504C>T (p.Thr3168=) rs770587751 0.00001
NM_001164508.2(NEB):c.9517G>A (p.Asp3173Asn) rs376224722 0.00001
NM_001164508.2(NEB):c.9535C>A (p.Pro3179Thr) rs754263826 0.00001
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=) rs373833313 0.00001
NM_001164508.2(NEB):c.9568G>T (p.Asp3190Tyr) rs781238222 0.00001
NM_001164508.2(NEB):c.9591C>T (p.Ala3197=) rs1452295483 0.00001
NM_001164508.2(NEB):c.95A>G (p.Tyr32Cys) rs193227711 0.00001
NM_001164508.2(NEB):c.9619-3T>C rs756309002 0.00001
NM_001164508.2(NEB):c.9624A>G (p.Leu3208=) rs1309537285 0.00001
NM_001164508.2(NEB):c.966G>T (p.Gln322His) rs757803976 0.00001
NM_001164508.2(NEB):c.9689T>C (p.Met3230Thr) rs760551196 0.00001
NM_001164508.2(NEB):c.9694G>T (p.Ala3232Ser) rs1329330602 0.00001
NM_001164508.2(NEB):c.9723+7G>A rs557480322 0.00001
NM_001164508.2(NEB):c.9744T>C (p.Asn3248=) rs1386728979 0.00001
NM_001164508.2(NEB):c.9767A>G (p.Tyr3256Cys) rs1365723573 0.00001
NM_001164508.2(NEB):c.9771C>T (p.Asp3257=) rs772708316 0.00001
NM_001164508.2(NEB):c.9783C>T (p.Asp3261=) rs756787775 0.00001
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met) rs564504601 0.00001
NM_001164508.2(NEB):c.9810C>T (p.Ala3270=) rs1170138596 0.00001
NM_001164508.2(NEB):c.9819C>T (p.Asp3273=) rs776553132 0.00001
NM_001164508.2(NEB):c.9831+7A>G rs2098613210 0.00001
NM_001164508.2(NEB):c.9834C>T (p.Tyr3278=) rs1230248586 0.00001
NM_001164508.2(NEB):c.9848G>A (p.Gly3283Asp) rs2098553051 0.00001
NM_001164508.2(NEB):c.9858G>A (p.Lys3286=) rs1387341215 0.00001
NM_001164508.2(NEB):c.9873C>T (p.His3291=) rs2098552699 0.00001
NM_001164508.2(NEB):c.9884G>A (p.Arg3295Gln) rs201965465 0.00001
NM_001164508.2(NEB):c.9888C>T (p.Asn3296=) rs1265139095 0.00001
NM_001164508.2(NEB):c.9890T>C (p.Ile3297Thr) rs1323917769 0.00001
NM_001164508.2(NEB):c.9924T>C (p.His3308=) rs752801727 0.00001
NM_001164508.2(NEB):c.9964T>A (p.Phe3322Ile) rs369385033 0.00001
NM_001164508.2(NEB):c.9986T>A (p.Phe3329Tyr) rs776107526 0.00001
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del
NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del
NC_000002.11:g.(?_152342274)_(152432888_?)dup
NC_000002.11:g.(?_152348187)_(152425896_?)dup
NC_000002.11:g.(?_152369227)_(152376302_?)del
NC_000002.11:g.(?_152380815)_(152384109_?)del
NC_000002.11:g.(?_152408232)_(152432888_?)del
NC_000002.11:g.(?_152417187)_(152418727_?)del
NC_000002.11:g.(?_152466303)_(152477560_?)dup
NC_000002.11:g.(?_152466303)_(152563531_?)del
NC_000002.11:g.(?_152470770)_(152471121_?)del
NC_000002.11:g.(?_152470770)_(152554182_?)del
NC_000002.11:g.(?_152475955)_(152476286_?)del
NC_000002.11:g.(?_152482028)_(152566297_?)del
NC_000002.11:g.(?_152482028)_(152567072_?)del
NC_000002.11:g.(?_152484352)_152490482del
NC_000002.11:g.(?_152499078)_(152500653_?)del
NC_000002.11:g.(?_152506680)_(152507409_?)del
NC_000002.11:g.(?_152506680)_(152510623_?)del
NC_000002.11:g.(?_152524298)_(152525665_?)del
NC_000002.11:g.(?_152539156)_(152539303_?)del
NC_000002.11:g.(?_152541945)_(152544191_?)del
NC_000002.11:g.(?_152579876)_(152589670_?)del
NC_000002.12:g.(?_151496931)_(151497043_?)del
NC_000002.12:g.(?_151614266)_(151697658_?)del
NC_000002.12:g.(?_151645758)_(151648259_?)del
NC_000002.12:g.(?_151646110)_(151646254_?)del
NC_000002.12:g.(?_151646120)_(151646244_?)del
NM_001164508.2(NEB):c.10007T>C (p.Leu3336Pro) rs1392434296
NM_001164508.2(NEB):c.10008G>C (p.Leu3336=) rs1305733827
NM_001164508.2(NEB):c.10011A>G (p.Gly3337=)
NM_001164508.2(NEB):c.10012G>A (p.Val3338Met) rs534475193
NM_001164508.2(NEB):c.10015G>T (p.Val3339Leu)
NM_001164508.2(NEB):c.10021G>T (p.Ala3341Ser) rs1574279999
NM_001164508.2(NEB):c.10023C>T (p.Ala3341=)
NM_001164508.2(NEB):c.10026_10027insTG (p.Lys3343Ter)
NM_001164508.2(NEB):c.10036A>G (p.Thr3346Ala) rs2098550963
NM_001164508.2(NEB):c.10038C>T (p.Thr3346=)
NM_001164508.2(NEB):c.10044C>T (p.Val3348=)
NM_001164508.2(NEB):c.10047C>T (p.Ser3349=) rs763268909
NM_001164508.2(NEB):c.10048G>A (p.Asp3350Asn) rs377180119
NM_001164508.2(NEB):c.1004T>A (p.Met335Lys)
NM_001164508.2(NEB):c.10054_10055delinsT (p.Asp3352fs)
NM_001164508.2(NEB):c.10056C>G (p.Asp3352Glu)
NM_001164508.2(NEB):c.10058A>G (p.Tyr3353Cys)
NM_001164508.2(NEB):c.10059C>T (p.Tyr3353=)
NM_001164508.2(NEB):c.10061A>G (p.Lys3354Arg)
NM_001164508.2(NEB):c.10065C>T (p.Asn3355=)
NM_001164508.2(NEB):c.10069C>T (p.Leu3357=)
NM_001164508.2(NEB):c.1006_1018del (p.Asn336fs) rs2099738446
NM_001164508.2(NEB):c.10071G>A (p.Leu3357=)
NM_001164508.2(NEB):c.10080G>T (p.Trp3360Cys) rs1574278301
NM_001164508.2(NEB):c.10083G>C (p.Thr3361=) rs778762176
NM_001164508.2(NEB):c.10086C>T (p.Cys3362=) rs1560627086
NM_001164508.2(NEB):c.10087C>A (p.Leu3363Met) rs2098550303
NM_001164508.2(NEB):c.10087C>T (p.Leu3363=) rs2098550303
NM_001164508.2(NEB):c.10101T>C (p.Asn3367=) rs755069446
NM_001164508.2(NEB):c.10104T>C (p.Asp3368=)
NM_001164508.2(NEB):c.10119G>T (p.Arg3373=) rs2154060193
NM_001164508.2(NEB):c.10125C>G (p.Ala3375=)
NM_001164508.2(NEB):c.10143+16C>T
NM_001164508.2(NEB):c.10143+18A>G
NM_001164508.2(NEB):c.10143+2T>G
NM_001164508.2(NEB):c.10143+5G>C rs1158552388
NM_001164508.2(NEB):c.10143+7A>C
NM_001164508.2(NEB):c.10143+8A>G rs2154060056
NM_001164508.2(NEB):c.10143+9_10143+12del
NM_001164508.2(NEB):c.10144-10_10144-7dup rs2154058633
NM_001164508.2(NEB):c.10144-10_10144-9delinsG rs1553928417
NM_001164508.2(NEB):c.10144-17GT[3]
NM_001164508.2(NEB):c.10144-17_10144-9dup rs1574263120
NM_001164508.2(NEB):c.10144-2A>G rs1435980710
NM_001164508.2(NEB):c.10144-6C>T rs2154058627
NM_001164508.2(NEB):c.10144-7_10144-4del rs764505319
NM_001164508.2(NEB):c.10144-7_10144-5del rs2154058615
NM_001164508.2(NEB):c.10144-8C>A
NM_001164508.2(NEB):c.10146C>T (p.Asn3382=)
NM_001164508.2(NEB):c.1014A>G (p.Lys338=)
NM_001164508.2(NEB):c.10152C>A (p.Tyr3384Ter)
NM_001164508.2(NEB):c.10154A>T (p.Lys3385Ile)
NM_001164508.2(NEB):c.10155A>G (p.Lys3385=)
NM_001164508.2(NEB):c.10161T>C (p.Asp3387=)
NM_001164508.2(NEB):c.10164C>T (p.Leu3388=) rs2154058483
NM_001164508.2(NEB):c.10165C>T (p.Gln3389Ter)
NM_001164508.2(NEB):c.10167G>A (p.Gln3389=)
NM_001164508.2(NEB):c.10169_10170insCT (p.Trp3390fs)
NM_001164508.2(NEB):c.1016C>T (p.Ala339Val)
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
NM_001164508.2(NEB):c.1017T>C (p.Ala339=)
NM_001164508.2(NEB):c.10185C>T (p.Gly3395=)
NM_001164508.2(NEB):c.10194C>T (p.Pro3398=)
NM_001164508.2(NEB):c.1019_1020insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGG (p.Val341fs)
NM_001164508.2(NEB):c.10211T>G (p.Val3404Gly) rs2154058359
NM_001164508.2(NEB):c.10211_10212insCTAC (p.Val3405fs)
NM_001164508.2(NEB):c.10212G>A (p.Val3404=)
NM_001164508.2(NEB):c.10213G>T (p.Val3405Phe) rs1553927988
NM_001164508.2(NEB):c.10217A>G (p.Lys3406Arg) rs1574259964
NM_001164508.2(NEB):c.10222A>T (p.Lys3408Ter)
NM_001164508.2(NEB):c.10228G>A (p.Ala3410Thr) rs1298375132
NM_001164508.2(NEB):c.10231G>T (p.Ala3411Ser) rs727504034
NM_001164508.2(NEB):c.10234G>T (p.Glu3412Ter)
NM_001164508.2(NEB):c.10240C>T (p.Leu3414=)
NM_001164508.2(NEB):c.10242G>A (p.Leu3414=) rs775450019
NM_001164508.2(NEB):c.10242G>C (p.Leu3414=) rs775450019
NM_001164508.2(NEB):c.10254C>T (p.Ile3418=) rs772147172
NM_001164508.2(NEB):c.10255_10256insGTCTCTTA (p.Tyr3419fs)
NM_001164508.2(NEB):c.10259G>A (p.Arg3420His)
NM_001164508.2(NEB):c.10266T>C (p.Pro3422=)
NM_001164508.2(NEB):c.10275G>A (p.Lys3425=) rs1205545857
NM_001164508.2(NEB):c.10287C>T (p.Thr3429=)
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn) rs1370385550
NM_001164508.2(NEB):c.10299C>T (p.Asp3433=) rs180847025
NM_001164508.2(NEB):c.10302T>A (p.Ser3434=) rs776667734
NM_001164508.2(NEB):c.10302T>G (p.Ser3434=)
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val) rs768451216
NM_001164508.2(NEB):c.10308G>A (p.Glu3436=)
NM_001164508.2(NEB):c.10314G>T (p.Val3438=)
NM_001164508.2(NEB):c.10316T>C (p.Leu3439Pro) rs2154058008
NM_001164508.2(NEB):c.10317G>A (p.Leu3439=)
NM_001164508.2(NEB):c.1031G>A (p.Ser344Asn) rs1224318643
NM_001164508.2(NEB):c.10323G>A (p.Lys3441=) rs1574255880
NM_001164508.2(NEB):c.10326C>G (p.Asn3442Lys)
NM_001164508.2(NEB):c.1032C>T (p.Ser344=)
NM_001164508.2(NEB):c.10332T>G (p.Ala3444=) rs2154057946
NM_001164508.2(NEB):c.10335C>A (p.Leu3445=)
NM_001164508.2(NEB):c.10335C>T (p.Leu3445=) rs188127282
NM_001164508.2(NEB):c.10347+11A>G
NM_001164508.2(NEB):c.10347+12A>G
NM_001164508.2(NEB):c.10347+16G>A
NM_001164508.2(NEB):c.10347+20G>A
NM_001164508.2(NEB):c.10347+20G>C
NM_001164508.2(NEB):c.10347+3G>A rs1226603362
NM_001164508.2(NEB):c.10347+9C>T rs2154057810
NM_001164508.2(NEB):c.10347G>A (p.Lys3449=) rs1051033510
NM_001164508.2(NEB):c.10348-11A>G
NM_001164508.2(NEB):c.10348-17C>T
NM_001164508.2(NEB):c.10348-6T>A
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
NM_001164508.2(NEB):c.1035+11A>G
NM_001164508.2(NEB):c.1035+15T>C
NM_001164508.2(NEB):c.1035+1G>A
NM_001164508.2(NEB):c.1035+6A>G rs1577251081
NM_001164508.2(NEB):c.10353A>T (p.Leu3451Phe)
NM_001164508.2(NEB):c.10358C>A (p.Thr3453Lys) rs781408732
NM_001164508.2(NEB):c.10358C>G (p.Thr3453Arg)
NM_001164508.2(NEB):c.10359A>G (p.Thr3453=)
NM_001164508.2(NEB):c.1036-12T>G
NM_001164508.2(NEB):c.1036-15A>C
NM_001164508.2(NEB):c.1036-16T>C
NM_001164508.2(NEB):c.1036-4A>G
NM_001164508.2(NEB):c.1036-6C>A
NM_001164508.2(NEB):c.1036-8T>C
NM_001164508.2(NEB):c.1036-9C>T rs773220407
NM_001164508.2(NEB):c.10369G>A (p.Asp3457Asn) rs1319060772
NM_001164508.2(NEB):c.10373A>C (p.Lys3458Thr)
NM_001164508.2(NEB):c.10381A>G (p.Thr3461Ala)
NM_001164508.2(NEB):c.10387G>A (p.Val3463Ile)
NM_001164508.2(NEB):c.10389C>T (p.Val3463=) rs2154052041
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val) rs535926481
NM_001164508.2(NEB):c.10395T>C (p.Ile3465=) rs756852049
NM_001164508.2(NEB):c.10411G>T (p.Glu3471Ter) rs866949431
NM_001164508.2(NEB):c.10419G>T (p.Met3473Ile) rs368842783
NM_001164508.2(NEB):c.10423G>T (p.Ala3475Ser) rs2098506984
NM_001164508.2(NEB):c.10425A>T (p.Ala3475=)
NM_001164508.2(NEB):c.10433A>G (p.Asn3478Ser) rs1246003078
NM_001164508.2(NEB):c.10433dup (p.Asn3478fs)
NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)
NM_001164508.2(NEB):c.10441_10445del (p.Ile3480_Asn3481insTer)
NM_001164508.2(NEB):c.10447A>G (p.Ser3483Gly)
NM_001164508.2(NEB):c.10452+14T>C
NM_001164508.2(NEB):c.10452+17T>C
NM_001164508.2(NEB):c.10452+3A>G rs2154051876
NM_001164508.2(NEB):c.10452+7T>C
NM_001164508.2(NEB):c.10453-17A>C rs2154027977
NM_001164508.2(NEB):c.10453-17A>G
NM_001164508.2(NEB):c.10453-20G>A
NM_001164508.2(NEB):c.10453-5C>T rs2154027952
NM_001164508.2(NEB):c.10453-6C>T
NM_001164508.2(NEB):c.10453-7T>C
NM_001164508.2(NEB):c.10453A>T (p.Ser3485Cys) rs2154027931
NM_001164508.2(NEB):c.10458C>G (p.Leu3486=)
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys) rs765175171
NM_001164508.2(NEB):c.10465C>T (p.Gln3489Ter)
NM_001164508.2(NEB):c.10470C>T (p.Ala3490=)
NM_001164508.2(NEB):c.1047A>G (p.Lys349=) rs2149873980
NM_001164508.2(NEB):c.10485G>A (p.Lys3495=)
NM_001164508.2(NEB):c.10488A>G (p.Lys3496=) rs2154027847
NM_001164508.2(NEB):c.10493del (p.Gly3498fs) rs1574014358
NM_001164508.2(NEB):c.10497del (p.Gly3498_Tyr3499insTer) rs2154027821
NM_001164508.2(NEB):c.10503G>A (p.Leu3501=)
NM_001164508.2(NEB):c.10509T>C (p.Ser3503=)
NM_001164508.2(NEB):c.10511A>G (p.Asp3504Gly)
NM_001164508.2(NEB):c.10519C>T (p.Pro3507Ser)
NM_001164508.2(NEB):c.10521C>G (p.Pro3507=)
NM_001164508.2(NEB):c.10521C>T (p.Pro3507=)
NM_001164508.2(NEB):c.10524T>C (p.Ile3508=)
NM_001164508.2(NEB):c.10535A>G (p.Lys3512Arg)
NM_001164508.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
NM_001164508.2(NEB):c.10539C>T (p.Ala3513=) rs2154027747
NM_001164508.2(NEB):c.10543C>A (p.Arg3515=)
NM_001164508.2(NEB):c.10545G>A (p.Arg3515=)
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
NM_001164508.2(NEB):c.10554C>A (p.Ala3518=)
NM_001164508.2(NEB):c.10560+10G>C
NM_001164508.2(NEB):c.10560+13C>G
NM_001164508.2(NEB):c.10560+15A>C
NM_001164508.2(NEB):c.10560+16G>C
NM_001164508.2(NEB):c.10560+17T>C
NM_001164508.2(NEB):c.10560+1G>A rs1553915731
NM_001164508.2(NEB):c.10560+4A>G
NM_001164508.2(NEB):c.10560+7G>A
NM_001164508.2(NEB):c.10561-15G>T
NM_001164508.2(NEB):c.10561-17T>C
NM_001164508.2(NEB):c.10561-7C>T
NM_001164508.2(NEB):c.10561-9C>T rs1573943509
NM_001164508.2(NEB):c.10563C>T (p.Tyr3521=) rs2154022884
NM_001164508.2(NEB):c.10564A>C (p.Lys3522Gln)
NM_001164508.2(NEB):c.10566A>G (p.Lys3522=) rs2098336632
NM_001164508.2(NEB):c.10578A>C (p.Ala3526=) rs760118695
NM_001164508.2(NEB):c.10591T>C (p.Leu3531=) rs2098336175
NM_001164508.2(NEB):c.10598_10599del (p.His3533fs)
NM_001164508.2(NEB):c.10598_10610del (p.His3533fs) rs2154022757
NM_001164508.2(NEB):c.10599C>A (p.His3533Gln)
NM_001164508.2(NEB):c.10599C>T (p.His3533=)
NM_001164508.2(NEB):c.1059A>C (p.Glu353Asp)
NM_001164508.2(NEB):c.105G>T (p.Thr35=) rs368075131
NM_001164508.2(NEB):c.10600C>T (p.His3534Tyr)
NM_001164508.2(NEB):c.10603A>T (p.Ile3535Phe)
NM_001164508.2(NEB):c.10611C>T (p.Ala3537=) rs2154022749
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.10613G>A (p.Arg3538Gln)
NM_001164508.2(NEB):c.10613G>T (p.Arg3538Leu)
NM_001164508.2(NEB):c.10617A>G (p.Ala3539=)
NM_001164508.2(NEB):c.10624G>A (p.Asp3542Asn) rs777939660
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
NM_001164508.2(NEB):c.10626T>C (p.Asp3542=) rs1560520848
NM_001164508.2(NEB):c.1063A>G (p.Asn355Asp)
NM_001164508.2(NEB):c.10650C>A (p.Leu3550=) rs2154022652
NM_001164508.2(NEB):c.10650C>T (p.Leu3550=) rs2154022652
NM_001164508.2(NEB):c.10654A>T (p.Ile3552Phe)
NM_001164508.2(NEB):c.10656T>A (p.Ile3552=)
NM_001164508.2(NEB):c.10657G>T (p.Ala3553Ser) rs1372803594
NM_001164508.2(NEB):c.10660A>G (p.Lys3554Glu) rs1553912139
NM_001164508.2(NEB):c.10662A>G (p.Lys3554=)
NM_001164508.2(NEB):c.10675C>G (p.Arg3559Gly) rs751938843
NM_001164508.2(NEB):c.10687A>G (p.Lys3563Glu)
NM_001164508.2(NEB):c.10687A>T (p.Lys3563Ter) rs1207279110
NM_001164508.2(NEB):c.1068_1096dup (p.Ala366fs)
NM_001164508.2(NEB):c.10706A>G (p.Lys3569Arg) rs371572709
NM_001164508.2(NEB):c.10709C>T (p.Thr3570Ile)
NM_001164508.2(NEB):c.1070G>A (p.Gly357Glu) rs1221725692
NM_001164508.2(NEB):c.10712G>A (p.Arg3571Lys) rs761487598
NM_001164508.2(NEB):c.10722C>T (p.Ser3574=)
NM_001164508.2(NEB):c.10725A>G (p.Pro3575=)
NM_001164508.2(NEB):c.10738_10742del (p.Gly3580fs)
NM_001164508.2(NEB):c.1074A>G (p.Lys358=) rs2099709094
NM_001164508.2(NEB):c.10767C>G (p.Thr3589=)
NM_001164508.2(NEB):c.10767C>T (p.Thr3589=)
NM_001164508.2(NEB):c.10779T>C (p.Asp3593=) rs2154022301
NM_001164508.2(NEB):c.1077A>G (p.Ala359=)
NM_001164508.2(NEB):c.1077A>T (p.Ala359=)
NM_001164508.2(NEB):c.10782G>T (p.Val3594=)
NM_001164508.2(NEB):c.10783G>A (p.Asp3595Asn)
NM_001164508.2(NEB):c.10788T>C (p.Tyr3596=)
NM_001164508.2(NEB):c.10792C>T (p.His3598Tyr)
NM_001164508.2(NEB):c.10798C>T (p.Leu3600=) rs2154022281
NM_001164508.2(NEB):c.10798del (p.Leu3600fs)
NM_001164508.2(NEB):c.107CAA[1] (p.Thr37del) rs1553698850
NM_001164508.2(NEB):c.10800G>T (p.Leu3600=)
NM_001164508.2(NEB):c.10806A>G (p.Glu3602=) rs763417230
NM_001164508.2(NEB):c.10807T>C (p.Trp3603Arg)
NM_001164508.2(NEB):c.10809G>A (p.Trp3603Ter) rs10172023
NM_001164508.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal) rs1573936944
NM_001164508.2(NEB):c.10815C>T (p.Cys3605=)
NM_001164508.2(NEB):c.10817T>C (p.Leu3606Pro)
NM_001164508.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001164508.2(NEB):c.10818G>A (p.Leu3606=)
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr) rs2098331597
NM_001164508.2(NEB):c.10821C>G (p.Pro3607=)
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn)
NM_001164508.2(NEB):c.1082_1097del (p.Tyr361fs)
NM_001164508.2(NEB):c.10833CAT[1] (p.Ile3613del) rs773748212
NM_001164508.2(NEB):c.1083T>A (p.Tyr361Ter) rs2149872738
NM_001164508.2(NEB):c.10842T>C (p.His3614=) rs2154022111
NM_001164508.2(NEB):c.10845A>C (p.Ala3615=)
NM_001164508.2(NEB):c.10845A>G (p.Ala3615=) rs1461539455
NM_001164508.2(NEB):c.10851A>G (p.Lys3617=)
NM_001164508.2(NEB):c.10855T>C (p.Tyr3619His)
NM_001164508.2(NEB):c.10861C>G (p.Leu3621Val) rs1573934764
NM_001164508.2(NEB):c.10870G>A (p.Asp3624Asn)
NM_001164508.2(NEB):c.10872+11T>G
NM_001164508.2(NEB):c.10872+12T>C
NM_001164508.2(NEB):c.10872+14A>G
NM_001164508.2(NEB):c.10872+14A>T
NM_001164508.2(NEB):c.10872+17T>C rs1216757775
NM_001164508.2(NEB):c.10872+19A>G
NM_001164508.2(NEB):c.10872+1G>A rs1336053002
NM_001164508.2(NEB):c.10872+1del
NM_001164508.2(NEB):c.10872+27A>C rs10186656
NM_001164508.2(NEB):c.10872+2T>A
NM_001164508.2(NEB):c.10872+4A>G
NM_001164508.2(NEB):c.10872+8T>C rs1406948370
NM_001164508.2(NEB):c.10872C>A (p.Asp3624Glu) rs781328083
NM_001164508.2(NEB):c.10873-13T>C
NM_001164508.2(NEB):c.10873-13T>G
NM_001164508.2(NEB):c.10873-14C>G
NM_001164508.2(NEB):c.10873-16A>G
NM_001164508.2(NEB):c.10873-4G>A
NM_001164508.2(NEB):c.10873-4G>T rs2098277700
NM_001164508.2(NEB):c.10873-7T>C
NM_001164508.2(NEB):c.10875T>C (p.Asn3625=) rs1182909673
NM_001164508.2(NEB):c.10880A>G (p.Tyr3627Cys) rs573537251
NM_001164508.2(NEB):c.10882A>T (p.Lys3628Ter)
NM_001164508.2(NEB):c.10884G>A (p.Lys3628=) rs2154017407
NM_001164508.2(NEB):c.10884G>T (p.Lys3628Asn) rs2154017407
NM_001164508.2(NEB):c.10887A>T (p.Ser3629=)
NM_001164508.2(NEB):c.10890C>T (p.Asp3630=) rs2098277221
NM_001164508.2(NEB):c.10893T>G (p.Leu3631=) rs2154017315
NM_001164508.2(NEB):c.10905A>G (p.Lys3635=) rs1206850879
NM_001164508.2(NEB):c.10913G>C (p.Gly3638Ala)
NM_001164508.2(NEB):c.10914C>T (p.Gly3638=)
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
NM_001164508.2(NEB):c.10932C>T (p.Ser3644=) rs2154016925
NM_001164508.2(NEB):c.10938A>G (p.Glu3646=)
NM_001164508.2(NEB):c.10950C>T (p.Ala3650=)
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001164508.2(NEB):c.10956A>G (p.Arg3652=)
NM_001164508.2(NEB):c.10957G>A (p.Ala3653Thr)
NM_001164508.2(NEB):c.10972A>G (p.Ser3658Gly) rs2154016610
NM_001164508.2(NEB):c.10974T>C (p.Ser3658=)
NM_001164508.2(NEB):c.10976A>G (p.Asp3659Gly)
NM_001164508.2(NEB):c.10981A>T (p.Ile3661Phe)
NM_001164508.2(NEB):c.10982T>C (p.Ile3661Thr) rs886940194
NM_001164508.2(NEB):c.10987C>T (p.Arg3663Cys)
NM_001164508.2(NEB):c.1098T>C (p.Ala366=) rs901213929
NM_001164508.2(NEB):c.10994G>A (p.Arg3665His)
NM_001164508.2(NEB):c.11003C>T (p.Thr3668Met)
NM_001164508.2(NEB):c.11010dup (p.Phe3671fs) rs2098273867
NM_001164508.2(NEB):c.11016C>G (p.Thr3672=)
NM_001164508.2(NEB):c.11016C>T (p.Thr3672=)
NM_001164508.2(NEB):c.1101A>G (p.Ser367=)
NM_001164508.2(NEB):c.11020A>G (p.Ile3674Val)
NM_001164508.2(NEB):c.11022A>G (p.Ile3674Met)
NM_001164508.2(NEB):c.11024C>T (p.Thr3675Met)
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs) rs1560500587
NM_001164508.2(NEB):c.11028C>T (p.Asp3676=) rs2154015983
NM_001164508.2(NEB):c.11031_11034del (p.Pro3678fs)
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala) rs879255369
NM_001164508.2(NEB):c.11038C>T (p.Gln3680Ter)
NM_001164508.2(NEB):c.11041G>A (p.Val3681Met)
NM_001164508.2(NEB):c.11041G>C (p.Val3681Leu)
NM_001164508.2(NEB):c.11043G>A (p.Val3681=) rs886038428
NM_001164508.2(NEB):c.11046G>T (p.Leu3682=) rs2154015826
NM_001164508.2(NEB):c.11054A>G (p.Asn3685Ser)
NM_001164508.2(NEB):c.11054dup (p.Asn3685fs) rs1560499498
NM_001164508.2(NEB):c.1106A>G (p.Asn369Ser) rs2099709000
NM_001164508.2(NEB):c.11076+18del
NM_001164508.2(NEB):c.11076+8T>G
NM_001164508.2(NEB):c.11077-12T>A
NM_001164508.2(NEB):c.11077-13T>C
NM_001164508.2(NEB):c.11077-17T>C
NM_001164508.2(NEB):c.11077-18_11077-17insC
NM_001164508.2(NEB):c.11077-18_11077-17insCTCTC
NM_001164508.2(NEB):c.11077-18_11077-17insTC rs1263320307
NM_001164508.2(NEB):c.11077-18_11077-17insTCTC
NM_001164508.2(NEB):c.11077-18_11077-17insTCTCTC
NM_001164508.2(NEB):c.11077-1G>A rs1458096844
NM_001164508.2(NEB):c.11077-20T>C
NM_001164508.2(NEB):c.11077-20_11077-19insCTC rs1553905611
NM_001164508.2(NEB):c.11077-20_11077-19insCTCTCTC
NM_001164508.2(NEB):c.11077-21_11077-18del rs751075730
NM_001164508.2(NEB):c.11077-23_11077-18del
NM_001164508.2(NEB):c.11077-23_11077-19del
NM_001164508.2(NEB):c.11077-35CT[5]
NM_001164508.2(NEB):c.11077-35CT[6]
NM_001164508.2(NEB):c.11077-35CT[7] rs369065019
NM_001164508.2(NEB):c.11077-35CT[9] rs369065019
NM_001164508.2(NEB):c.11077-6T>C
NM_001164508.2(NEB):c.11077-9T>G
NM_001164508.2(NEB):c.11086A>G (p.Thr3696Ala)
NM_001164508.2(NEB):c.11087C>T (p.Thr3696Ile)
NM_001164508.2(NEB):c.11088T>C (p.Thr3696=)
NM_001164508.2(NEB):c.1109dup (p.Gln371fs)
NM_001164508.2(NEB):c.11103T>C (p.Asn3701=) rs1242008589
NM_001164508.2(NEB):c.11119C>T (p.His3707Tyr)
NM_001164508.2(NEB):c.1111C>T (p.Gln371Ter)
NM_001164508.2(NEB):c.11124C>G (p.Val3708=)
NM_001164508.2(NEB):c.11132A>T (p.Asp3711Val)
NM_001164508.2(NEB):c.11140G>T (p.Glu3714Ter)
NM_001164508.2(NEB):c.11147T>C (p.Met3716Thr) rs2098235987
NM_001164508.2(NEB):c.11157A>G (p.Lys3719=) rs2154008369
NM_001164508.2(NEB):c.11164C>A (p.Arg3722=) rs928945364
NM_001164508.2(NEB):c.11164C>G (p.Arg3722Gly)
NM_001164508.2(NEB):c.11173T>C (p.Tyr3725His)
NM_001164508.2(NEB):c.11175C>T (p.Tyr3725=)
NM_001164508.2(NEB):c.11177G>A (p.Ser3726Asn)
NM_001164508.2(NEB):c.1117A>C (p.Arg373=) rs778295273
NM_001164508.2(NEB):c.11181+13T>C
NM_001164508.2(NEB):c.11181+14T>C
NM_001164508.2(NEB):c.11181+16A>C
NM_001164508.2(NEB):c.11181+16A>T
NM_001164508.2(NEB):c.11181+2T>C rs1553904694
NM_001164508.2(NEB):c.11181+9A>G
NM_001164508.2(NEB):c.11182-12T>C
NM_001164508.2(NEB):c.11182-16A>C
NM_001164508.2(NEB):c.11182-18T>C
NM_001164508.2(NEB):c.11182-20A>G
NM_001164508.2(NEB):c.11182-4A>G rs2154001899
NM_001164508.2(NEB):c.11182-7T>C
NM_001164508.2(NEB):c.11187C>G (p.Leu3729=) rs2154001878
NM_001164508.2(NEB):c.11188T>A (p.Tyr3730Asn)
NM_001164508.2(NEB):c.11207A>T (p.Glu3736Val)
NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)
NM_001164508.2(NEB):c.11215A>C (p.Lys3739Gln) rs267598922
NM_001164508.2(NEB):c.1121A>G (p.Gln374Arg)
NM_001164508.2(NEB):c.11229C>T (p.Asp3743=) rs2154001798
NM_001164508.2(NEB):c.11234G>A (p.Arg3745His)
NM_001164508.2(NEB):c.11239G>T (p.Asp3747Tyr)
NM_001164508.2(NEB):c.11248C>T (p.Pro3750Ser)
NM_001164508.2(NEB):c.11249C>A (p.Pro3750Gln) rs2098183275
NM_001164508.2(NEB):c.11250A>G (p.Pro3750=)
NM_001164508.2(NEB):c.11253C>G (p.Ile3751Met)
NM_001164508.2(NEB):c.11254C>T (p.Gln3752Ter)
NM_001164508.2(NEB):c.11269delinsATCAGCCTCGA (p.Ser3757fs)
NM_001164508.2(NEB):c.11288A>G (p.Asp3763Gly)
NM_001164508.2(NEB):c.11289+15del
NM_001164508.2(NEB):c.11289+1G>C rs1553901249
NM_001164508.2(NEB):c.11289+7G>A
NM_001164508.2(NEB):c.11289+8G>C rs772575722
NM_001164508.2(NEB):c.11289+8del rs2154001568
NM_001164508.2(NEB):c.11289+9A>G
NM_001164508.2(NEB):c.11289+9A>T rs758976471
NM_001164508.2(NEB):c.11289delT (p.Tyr3764fs)
NM_001164508.2(NEB):c.11290-10A>G
NM_001164508.2(NEB):c.11290-10A>T rs1560452173
NM_001164508.2(NEB):c.11290-11dup
NM_001164508.2(NEB):c.11290-12C>T
NM_001164508.2(NEB):c.11290-14C>A
NM_001164508.2(NEB):c.11290-3del rs1469187168
NM_001164508.2(NEB):c.11290-3dup rs1469187168
NM_001164508.2(NEB):c.11290-7T>G rs2153993308
NM_001164508.2(NEB):c.11290-9T>A
NM_001164508.2(NEB):c.11295G>A (p.Lys3765=)
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn) rs1553898232
NM_001164508.2(NEB):c.11298C>T (p.Tyr3766=) rs376120080
NM_001164508.2(NEB):c.112A>C (p.Arg38=) rs2150924938
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu) rs374486286
NM_001164508.2(NEB):c.11324G>A (p.Gly3775Asp)
NM_001164508.2(NEB):c.11337G>A (p.Gly3779=)
NM_001164508.2(NEB):c.11339C>A (p.Ala3780Asp)
NM_001164508.2(NEB):c.11340C>A (p.Ala3780=)
NM_001164508.2(NEB):c.11342G>A (p.Arg3781Gln)
NM_001164508.2(NEB):c.11346C>T (p.Asn3782=)
NM_001164508.2(NEB):c.1134A>G (p.Ala378=)
NM_001164508.2(NEB):c.11352G>A (p.Lys3784=)
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
NM_001164508.2(NEB):c.11361G>C (p.Pro3787=)
NM_001164508.2(NEB):c.11364G>A (p.Lys3788=) rs2153992902
NM_001164508.2(NEB):c.11367G>T (p.Met3789Ile) rs1256861153
NM_001164508.2(NEB):c.11371T>C (p.Trp3791Arg) rs2098127092
NM_001164508.2(NEB):c.11379C>A (p.Ile3793=) rs1437152444
NM_001164508.2(NEB):c.11382T>C (p.His3794=)
NM_001164508.2(NEB):c.11388C>A (p.Ala3796=) rs2153992756
NM_001164508.2(NEB):c.11403C>G (p.Asp3801Glu)
NM_001164508.2(NEB):c.11404A>C (p.Arg3802=) rs2153992690
NM_001164508.2(NEB):c.11408del (p.Glu3803fs)
NM_001164508.2(NEB):c.11412C>G (p.Tyr3804Ter)
NM_001164508.2(NEB):c.11415G>A (p.Lys3805=) rs1380185381
NM_001164508.2(NEB):c.11417A>G (p.Lys3806Arg) rs2098126289
NM_001164508.2(NEB):c.11425G>T (p.Glu3809Ter) rs2098126010
NM_001164508.2(NEB):c.11430G>A (p.Lys3810=) rs764934509
NM_001164508.2(NEB):c.11432G>A (p.Trp3811Ter)
NM_001164508.2(NEB):c.11440A>G (p.Lys3814Glu) rs1553897365
NM_001164508.2(NEB):c.11441A>G (p.Lys3814Arg)
NM_001164508.2(NEB):c.11448C>T (p.Ser3816=) rs2153992397
NM_001164508.2(NEB):c.1144C>T (p.Leu382=)
NM_001164508.2(NEB):c.11450G>A (p.Ser3817Asn) rs776337697
NM_001164508.2(NEB):c.11459A>T (p.Asp3820Val) rs1008059245
NM_001164508.2(NEB):c.11461A>T (p.Met3821Leu) rs1057524782
NM_001164508.2(NEB):c.11467G>C (p.Gly3823Arg) rs1489953672
NM_001164508.2(NEB):c.1146A>G (p.Leu382=)
NM_001164508.2(NEB):c.11473del (p.Val3825fs) rs2153992255
NM_001164508.2(NEB):c.11479G>A (p.Ala3827Thr) rs1404351594
NM_001164508.2(NEB):c.11496C>T (p.Ile3832=)
NM_001164508.2(NEB):c.11498T>C (p.Leu3833Pro) rs2098124760
NM_001164508.2(NEB):c.1149T>C (p.Ser383=)
NM_001164508.2(NEB):c.11505C>T (p.Ser3835=) rs889698238
NM_001164508.2(NEB):c.11511A>C (p.Ile3837=)
NM_001164508.2(NEB):c.11515T>C (p.Tyr3839His)
NM_001164508.2(NEB):c.11516A>G (p.Tyr3839Cys)
NM_001164508.2(NEB):c.1152+15G>A
NM_001164508.2(NEB):c.1152+15G>C
NM_001164508.2(NEB):c.1152+18A>C
NM_001164508.2(NEB):c.1152+19_1152+20del
NM_001164508.2(NEB):c.1152+1G>C rs398124167
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.1152+20A>G
NM_001164508.2(NEB):c.1152+6T>C
NM_001164508.2(NEB):c.1152+9A>T rs2099708834
NM_001164508.2(NEB):c.11520G>A (p.Lys3840=) rs781232760
NM_001164508.2(NEB):c.11529del (p.His3844fs)
NM_001164508.2(NEB):c.1153-10del rs776691267
NM_001164508.2(NEB):c.1153-10dup rs776691267
NM_001164508.2(NEB):c.1153-12T>G
NM_001164508.2(NEB):c.1153-14T>G
NM_001164508.2(NEB):c.1153-17T>C
NM_001164508.2(NEB):c.1153-18A>G
NM_001164508.2(NEB):c.1153-18A>T
NM_001164508.2(NEB):c.1153-2A>T rs1553609515
NM_001164508.2(NEB):c.1153-5G>T rs747738880
NM_001164508.2(NEB):c.1153-7T>G
NM_001164508.2(NEB):c.11533G>T (p.Glu3845Ter) rs755390933
NM_001164508.2(NEB):c.11535A>G (p.Glu3845=)
NM_001164508.2(NEB):c.11544C>T (p.Cys3848=)
NM_001164508.2(NEB):c.11550T>A (p.Pro3850=)
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile) rs542092706
NM_001164508.2(NEB):c.11565C>A (p.Val3855=) rs763599894
NM_001164508.2(NEB):c.11568T>C (p.Ile3856=)
NM_001164508.2(NEB):c.1157del (p.Leu386fs) rs2149368742
NM_001164508.2(NEB):c.11581G>A (p.Ala3861Thr)
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer) rs2153991555
NM_001164508.2(NEB):c.11585A>G (p.Tyr3862Cys)
NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001164508.2(NEB):c.11586T>C (p.Tyr3862=) rs2153991564
NM_001164508.2(NEB):c.1158A>C (p.Leu386=) rs1347524577
NM_001164508.2(NEB):c.1158A>G (p.Leu386=) rs1347524577
NM_001164508.2(NEB):c.1158A>T (p.Leu386=) rs1347524577
NM_001164508.2(NEB):c.11601+11C>T
NM_001164508.2(NEB):c.11601+12T>C
NM_001164508.2(NEB):c.11601+19C>A rs1438598403
NM_001164508.2(NEB):c.11602-13A>T rs886054941
NM_001164508.2(NEB):c.11602-14T>A
NM_001164508.2(NEB):c.11602-2A>C rs1553891733
NM_001164508.2(NEB):c.11602-9C>A rs1403276683
NM_001164508.2(NEB):c.11602-9C>T
NM_001164508.2(NEB):c.11606T>C (p.Ile3869Thr)
NM_001164508.2(NEB):c.11610C>A (p.Tyr3870Ter) rs2098013896
NM_001164508.2(NEB):c.11612A>C (p.Lys3871Thr)
NM_001164508.2(NEB):c.11612A>T (p.Lys3871Ile)
NM_001164508.2(NEB):c.11613del (p.Lys3871fs) rs2098013713
NM_001164508.2(NEB):c.11615C>G (p.Ser3872Cys) rs886054940
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001164508.2(NEB):c.1161C>T (p.Tyr387=) rs1259297878
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro) rs1131691534
NM_001164508.2(NEB):c.11629C>T (p.Leu3877=) rs2153983329
NM_001164508.2(NEB):c.1162A>G (p.Lys388Glu) rs1159204491
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp) rs199766288
NM_001164508.2(NEB):c.11636G>T (p.Gly3879Val)
NM_001164508.2(NEB):c.11640A>T (p.Ile3880=) rs2098012297
NM_001164508.2(NEB):c.1164G>A (p.Lys388=)
NM_001164508.2(NEB):c.11652C>T (p.Pro3884=) rs747207078
NM_001164508.2(NEB):c.11654T>A (p.Ile3885Asn) rs1367960856
NM_001164508.2(NEB):c.11664A>G (p.Val3888=) rs2098011552
NM_001164508.2(NEB):c.11666del (p.Glu3889fs)
NM_001164508.2(NEB):c.11668G>T (p.Val3890Phe)
NM_001164508.2(NEB):c.11670C>A (p.Val3890=)
NM_001164508.2(NEB):c.11670C>G (p.Val3890=) rs757703477
NM_001164508.2(NEB):c.11679G>A (p.Val3893=)
NM_001164508.2(NEB):c.11683A>C (p.Arg3895=)
NM_001164508.2(NEB):c.11686G>C (p.Ala3896Pro)
NM_001164508.2(NEB):c.11690G>A (p.Gly3897Glu) rs777129630
NM_001164508.2(NEB):c.1169A>G (p.Asn390Ser)
NM_001164508.2(NEB):c.11708G>A (p.Arg3903Lys) rs2098010006
NM_001164508.2(NEB):c.1170C>G (p.Asn390Lys)
NM_001164508.2(NEB):c.1170C>T (p.Asn390=) rs751470649
NM_001164508.2(NEB):c.11718C>T (p.Arg3906=) rs766404193
NM_001164508.2(NEB):c.11724T>C (p.Pro3908=) rs2153983044
NM_001164508.2(NEB):c.11730C>G (p.Asp3910Glu)
NM_001164508.2(NEB):c.11731C>T (p.Gln3911Ter)
NM_001164508.2(NEB):c.1173T>A (p.Tyr391Ter)
NM_001164508.2(NEB):c.1173T>C (p.Tyr391=) rs766385695
NM_001164508.2(NEB):c.11745A>G (p.Thr3915=) rs1342761496
NM_001164508.2(NEB):c.11748C>T (p.Cys3916=) rs1436399522
NM_001164508.2(NEB):c.11752A>G (p.Thr3918Ala)
NM_001164508.2(NEB):c.11754C>G (p.Thr3918=)
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001164508.2(NEB):c.11755G>C (p.Asp3919His)
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.11760T>C (p.Thr3920=)
NM_001164508.2(NEB):c.11763G>T (p.Pro3921=) rs554366790
NM_001164508.2(NEB):c.11778A>C (p.Ala3926=)
NM_001164508.2(NEB):c.11778A>G (p.Ala3926=)
NM_001164508.2(NEB):c.11781G>A (p.Lys3927=)
NM_001164508.2(NEB):c.11793G>A (p.Leu3931=)
NM_001164508.2(NEB):c.11796A>G (p.Thr3932=)
NM_001164508.2(NEB):c.11805+11del
NM_001164508.2(NEB):c.11805+14T>C
NM_001164508.2(NEB):c.11805+17T>C
NM_001164508.2(NEB):c.11805+1G>A
NM_001164508.2(NEB):c.11805+2T>A
NM_001164508.2(NEB):c.11805+7C>G rs2153982791
NM_001164508.2(NEB):c.11805+8T>C
NM_001164508.2(NEB):c.11805+9C>G
NM_001164508.2(NEB):c.11806-14G>A
NM_001164508.2(NEB):c.11806-15C>T
NM_001164508.2(NEB):c.11806-15_11806-14insTGCCCCG
NM_001164508.2(NEB):c.11806-19A>G
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.11806-7C>T
NM_001164508.2(NEB):c.11806-8C>T rs1313143934
NM_001164508.2(NEB):c.11806-9G>A
NM_001164508.2(NEB):c.11806-9G>T
NM_001164508.2(NEB):c.11808T>C (p.His3936=) rs2153976184
NM_001164508.2(NEB):c.11826G>C (p.Trp3942Cys) rs759613419
NM_001164508.2(NEB):c.1182A>G (p.Thr394=) rs186233985
NM_001164508.2(NEB):c.1182A>T (p.Thr394=)
NM_001164508.2(NEB):c.11835C>T (p.Asp3945=) rs2153976072
NM_001164508.2(NEB):c.11836A>G (p.Lys3946Glu)
NM_001164508.2(NEB):c.1184_1185dup (p.Ala396fs) rs2149367866
NM_001164508.2(NEB):c.11865C>T (p.Thr3955=) rs2153975940
NM_001164508.2(NEB):c.11873T>C (p.Ile3958Thr)
NM_001164508.2(NEB):c.11877G>T (p.Leu3959=)
NM_001164508.2(NEB):c.11880G>A (p.Leu3960=) rs2153975908
NM_001164508.2(NEB):c.11889T>A (p.Ser3963Arg) rs773708904
NM_001164508.2(NEB):c.11889T>C (p.Ser3963=)
NM_001164508.2(NEB):c.11890A>G (p.Asn3964Asp)
NM_001164508.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
NM_001164508.2(NEB):c.11891del (p.Asn3964fs)
NM_001164508.2(NEB):c.11902A>G (p.Ile3968Val)
NM_001164508.2(NEB):c.11904C>A (p.Ile3968=) rs2153975760
NM_001164508.2(NEB):c.11907C>T (p.Ser3969=)
NM_001164508.2(NEB):c.11909_11910+4del rs1553886582
NM_001164508.2(NEB):c.11910+10T>G rs2153975689
NM_001164508.2(NEB):c.11910+3A>G rs2097920067
NM_001164508.2(NEB):c.11910+7G>T rs1424646372
NM_001164508.2(NEB):c.11911-10C>G rs1267248176
NM_001164508.2(NEB):c.11911-12T>G rs2153974946
NM_001164508.2(NEB):c.11911-16A>G
NM_001164508.2(NEB):c.11911-4C>T
NM_001164508.2(NEB):c.11911-6C>T
NM_001164508.2(NEB):c.11911A>G (p.Lys3971Glu) rs762228870
NM_001164508.2(NEB):c.11923A>T (p.Lys3975Ter)
NM_001164508.2(NEB):c.11928A>G (p.Gly3976=)
NM_001164508.2(NEB):c.11932G>T (p.Asp3978Tyr) rs2097912400
NM_001164508.2(NEB):c.11937A>G (p.Glu3979=)
NM_001164508.2(NEB):c.1193G>A (p.Ser398Asn)
NM_001164508.2(NEB):c.11943G>A (p.Lys3981=) rs1258501445
NM_001164508.2(NEB):c.11949G>A (p.Lys3983=)
NM_001164508.2(NEB):c.11949G>T (p.Lys3983Asn)
NM_001164508.2(NEB):c.11949_11957dup (p.Tyr3985_Asp3986insGluAspTyr) rs753048510
NM_001164508.2(NEB):c.11967A>G (p.Ala3989=) rs770739649
NM_001164508.2(NEB):c.11969A>C (p.Asp3990Ala)
NM_001164508.2(NEB):c.11974A>T (p.Ile3992Phe)
NM_001164508.2(NEB):c.11976T>C (p.Ile3992=)
NM_001164508.2(NEB):c.11977T>C (p.Ser3993Pro) rs2153974640
NM_001164508.2(NEB):c.11980A>G (p.Ile3994Val) rs751650751
NM_001164508.2(NEB):c.11982C>A (p.Ile3994=) rs780157705
NM_001164508.2(NEB):c.11986del (p.Ser3996fs)
NM_001164508.2(NEB):c.11991C>A (p.Ala3997=) rs2153974584
NM_001164508.2(NEB):c.11991C>G (p.Ala3997=) rs2153974584
NM_001164508.2(NEB):c.11991C>T (p.Ala3997=)
NM_001164508.2(NEB):c.12009C>A (p.Ile4003=) rs1238384293
NM_001164508.2(NEB):c.12009C>T (p.Ile4003=) rs1238384293
NM_001164508.2(NEB):c.12010G>C (p.Ala4004Pro)
NM_001164508.2(NEB):c.12013A>T (p.Ser4005Cys)
NM_001164508.2(NEB):c.12018+11T>G
NM_001164508.2(NEB):c.12018+14A>G
NM_001164508.2(NEB):c.12018+14A>T
NM_001164508.2(NEB):c.12018+16C>T
NM_001164508.2(NEB):c.12018+8C>G rs2097909628
NM_001164508.2(NEB):c.12018C>T (p.Asp4006=)
NM_001164508.2(NEB):c.12019-2A>G
NM_001164508.2(NEB):c.12019-9G>A
NM_001164508.2(NEB):c.12020A>C (p.Tyr4007Ser) rs758528247
NM_001164508.2(NEB):c.12020A>G (p.Tyr4007Cys) rs758528247
NM_001164508.2(NEB):c.12030G>A (p.Lys4010=) rs1335298784
NM_001164508.2(NEB):c.1203C>T (p.Tyr401=) rs767796251
NM_001164508.2(NEB):c.12041A>G (p.Glu4014Gly) rs2153972362
NM_001164508.2(NEB):c.1204T>G (p.Cys402Gly)
NM_001164508.2(NEB):c.12069C>A (p.Ala4023=)
NM_001164508.2(NEB):c.12072G>T (p.Gln4024His)
NM_001164508.2(NEB):c.12074del (p.Ser4025fs) rs2153972237
NM_001164508.2(NEB):c.12075C>T (p.Ser4025=) rs2153972217
NM_001164508.2(NEB):c.12078T>C (p.Ile4026=) rs1367511738
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly) rs1188050770
NM_001164508.2(NEB):c.12081A>G (p.Glu4027=)
NM_001164508.2(NEB):c.12082G>A (p.Asp4028Asn) rs2153972179
NM_001164508.2(NEB):c.12090C>G (p.Pro4030=)
NM_001164508.2(NEB):c.1209G>T (p.Glu403Asp) rs1576715880
NM_001164508.2(NEB):c.12100T>A (p.Cys4034Ser) rs973939120
NM_001164508.2(NEB):c.12103G>A (p.Ala4035Thr) rs2097889020
NM_001164508.2(NEB):c.12111T>C (p.His4037=)
NM_001164508.2(NEB):c.12126A>G (p.Gln4042=)
NM_001164508.2(NEB):c.1212C>T (p.Thr404=)
NM_001164508.2(NEB):c.12137A>G (p.Glu4046Gly)
NM_001164508.2(NEB):c.12144G>A (p.Lys4048=) rs576457241
NM_001164508.2(NEB):c.12150A>G (p.Glu4050=)
NM_001164508.2(NEB):c.12151T>C (p.Phe4051Leu)
NM_001164508.2(NEB):c.12153C>T (p.Phe4051=)
NM_001164508.2(NEB):c.12158A>C (p.Lys4053Thr)
NM_001164508.2(NEB):c.1215dup (p.Lys406fs)
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)
NM_001164508.2(NEB):c.12166del (p.Thr4056fs)
NM_001164508.2(NEB):c.12168C>T (p.Thr4056=)
NM_001164508.2(NEB):c.12180C>T (p.Ser4060=) rs2097886989
NM_001164508.2(NEB):c.12182del (p.Pro4061fs) rs2097886912
NM_001164508.2(NEB):c.12185T>C (p.Val4062Ala)
NM_001164508.2(NEB):c.12186G>A (p.Val4062=)
NM_001164508.2(NEB):c.12193T>C (p.Leu4065=) rs768643787
NM_001164508.2(NEB):c.12205C>T (p.Leu4069=)
NM_001164508.2(NEB):c.12206T>C (p.Leu4069Pro)
NM_001164508.2(NEB):c.12218G>A (p.Cys4073Tyr)
NM_001164508.2(NEB):c.12218G>C (p.Cys4073Ser) rs1316221324
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
NM_001164508.2(NEB):c.12221A>T (p.Gln4074Leu) rs1257852959
NM_001164508.2(NEB):c.12244T>C (p.Tyr4082His)
NM_001164508.2(NEB):c.12251A>G (p.Asn4084Ser) rs761668198
NM_001164508.2(NEB):c.12252T>C (p.Asn4084=) rs2153971513
NM_001164508.2(NEB):c.12258G>A (p.Leu4086=)
NM_001164508.2(NEB):c.12258G>T (p.Leu4086=) rs371771414
NM_001164508.2(NEB):c.12260A>G (p.His4087Arg) rs199683595
NM_001164508.2(NEB):c.12261T>C (p.His4087=)
NM_001164508.2(NEB):c.12262G>C (p.Glu4088Gln)
NM_001164508.2(NEB):c.12270A>T (p.Thr4090=) rs1247368291
NM_001164508.2(NEB):c.12273C>T (p.Cys4091=)
NM_001164508.2(NEB):c.12274A>G (p.Met4092Val)
NM_001164508.2(NEB):c.12275T>G (p.Met4092Arg)
NM_001164508.2(NEB):c.12278C>G (p.Pro4093Arg) rs749270501
NM_001164508.2(NEB):c.12278dup (p.Asp4094fs)
NM_001164508.2(NEB):c.12279G>C (p.Pro4093=) rs367638234
NM_001164508.2(NEB):c.12279G>T (p.Pro4093=)
NM_001164508.2(NEB):c.1227C>G (p.Leu409=) rs371658494
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys) rs755521679
NM_001164508.2(NEB):c.12291C>T (p.Asp4097=) rs1303536974
NM_001164508.2(NEB):c.12297C>G (p.Ile4099Met) rs1442726188
NM_001164508.2(NEB):c.1229A>C (p.Asp410Ala) rs1576715183
NM_001164508.2(NEB):c.12304A>C (p.Lys4102Gln) rs2153971169
NM_001164508.2(NEB):c.12310G>A (p.Ala4104Thr)
NM_001164508.2(NEB):c.12311C>T (p.Ala4104Val)
NM_001164508.2(NEB):c.12312C>G (p.Ala4104=)
NM_001164508.2(NEB):c.12314A>G (p.Tyr4105Cys)
NM_001164508.2(NEB):c.1231A>T (p.Thr411Ser) rs2099605512
NM_001164508.2(NEB):c.12321G>A (p.Leu4107=)
NM_001164508.2(NEB):c.12326G>C (p.Ser4109Thr)
NM_001164508.2(NEB):c.12330+15T>G
NM_001164508.2(NEB):c.12330+19G>T
NM_001164508.2(NEB):c.12330+1G>A rs1350840483
NM_001164508.2(NEB):c.12330+20G>A
NM_001164508.2(NEB):c.12330+5G>A rs763163879
NM_001164508.2(NEB):c.12330+9C>A
NM_001164508.2(NEB):c.12331-12del
NM_001164508.2(NEB):c.12331-13A>G
NM_001164508.2(NEB):c.12331-15A>G rs1193626196
NM_001164508.2(NEB):c.12331-17T>C
NM_001164508.2(NEB):c.12331-19T>A
NM_001164508.2(NEB):c.12331-1G>A rs2097775442
NM_001164508.2(NEB):c.12331-20G>A
NM_001164508.2(NEB):c.12331-20G>T
NM_001164508.2(NEB):c.12331-4A>G rs2153961014
NM_001164508.2(NEB):c.12331-4A>T rs2153961014
NM_001164508.2(NEB):c.12331-7T>C
NM_001164508.2(NEB):c.12331-8_12331-6del rs1467597707
NM_001164508.2(NEB):c.12331-9del
NM_001164508.2(NEB):c.12339T>C (p.Tyr4113=)
NM_001164508.2(NEB):c.1233T>A (p.Thr411=) rs1241731133
NM_001164508.2(NEB):c.12342G>A (p.Lys4114=) rs1215819197
NM_001164508.2(NEB):c.12345A>G (p.Ala4115=)
NM_001164508.2(NEB):c.12348C>T (p.Asp4116=) rs2153960868
NM_001164508.2(NEB):c.12349C>T (p.Leu4117=) rs2153960843
NM_001164508.2(NEB):c.12351G>A (p.Leu4117=)
NM_001164508.2(NEB):c.12354G>A (p.Glu4118=) rs2153960806
NM_001164508.2(NEB):c.12356G>A (p.Trp4119Ter) rs2153960793
NM_001164508.2(NEB):c.12358C>T (p.Leu4120=) rs1579062340
NM_001164508.2(NEB):c.12360G>A (p.Leu4120=)
NM_001164508.2(NEB):c.12360G>T (p.Leu4120=) rs2153960754
NM_001164508.2(NEB):c.12362G>A (p.Arg4121His) rs1310133597
NM_001164508.2(NEB):c.12366C>T (p.Gly4122=)
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=) rs1277282343
NM_001164508.2(NEB):c.12370G>A (p.Gly4124Ser) rs1227592399
NM_001164508.2(NEB):c.12372C>A (p.Gly4124=)
NM_001164508.2(NEB):c.12374G>A (p.Trp4125Ter) rs2153960638
NM_001164508.2(NEB):c.12375del (p.Gly4124_Trp4125insTer)
NM_001164508.2(NEB):c.1237C>T (p.Leu413=)
NM_001164508.2(NEB):c.12381A>G (p.Pro4127=)
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001164508.2(NEB):c.12390A>G (p.Ser4130=) rs2153960575
NM_001164508.2(NEB):c.12394G>A (p.Glu4132Lys) rs2153960539
NM_001164508.2(NEB):c.12394G>T (p.Glu4132Ter) rs2153960539
NM_001164508.2(NEB):c.12395A>G (p.Glu4132Gly) rs1553877904
NM_001164508.2(NEB):c.1239G>A (p.Leu413=)
NM_001164508.2(NEB):c.123C>T (p.Asp41=)
NM_001164508.2(NEB):c.12402C>T (p.Asn4134=)
NM_001164508.2(NEB):c.12402_12403del (p.Asn4134fs) rs2153960473
NM_001164508.2(NEB):c.12405A>G (p.Arg4135=)
NM_001164508.2(NEB):c.12406G>A (p.Val4136Met) rs1553877868
NM_001164508.2(NEB):c.12407T>G (p.Val4136Gly) rs1553877860
NM_001164508.2(NEB):c.12411G>A (p.Lys4137=) rs2153960385
NM_001164508.2(NEB):c.12413T>G (p.Val4138Gly) rs1553877811
NM_001164508.2(NEB):c.12423C>T (p.Asp4141=)
NM_001164508.2(NEB):c.12426C>G (p.Leu4142=)
NM_001164508.2(NEB):c.12426C>T (p.Leu4142=) rs1320574868
NM_001164508.2(NEB):c.12432T>C (p.Asn4144=) rs2153960200
NM_001164508.2(NEB):c.12433G>T (p.Glu4145Ter) rs2097773972
NM_001164508.2(NEB):c.12435A>G (p.Glu4145=) rs2153960156
NM_001164508.2(NEB):c.12438A>G (p.Arg4146=) rs2097773804
NM_001164508.2(NEB):c.12438del (p.Arg4146fs) rs2153960110
NM_001164508.2(NEB):c.12441C>A (p.Leu4147=)
NM_001164508.2(NEB):c.12441C>T (p.Leu4147=)
NM_001164508.2(NEB):c.12441_12442del (p.Leu4147_Tyr4148insTer) rs2153960091
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001164508.2(NEB):c.12444T>C (p.Tyr4148=) rs1398108498
NM_001164508.2(NEB):c.12445A>C (p.Arg4149=)
NM_001164508.2(NEB):c.12447del (p.Thr4150fs)
NM_001164508.2(NEB):c.12450A>G (p.Thr4150=) rs2153960019
NM_001164508.2(NEB):c.12453T>A (p.Arg4151=)
NM_001164508.2(NEB):c.12453T>C (p.Arg4151=) rs2153959989
NM_001164508.2(NEB):c.12456A>G (p.Pro4152=) rs1289572507
NM_001164508.2(NEB):c.12457G>T (p.Glu4153Ter) rs2097773424
NM_001164508.2(NEB):c.1245C>T (p.Asn415=) rs1576714614
NM_001164508.2(NEB):c.12462T>C (p.Ala4154=) rs2153959921
NM_001164508.2(NEB):c.12463T>C (p.Leu4155=)
NM_001164508.2(NEB):c.12465G>A (p.Leu4155=) rs2153959905
NM_001164508.2(NEB):c.12468A>G (p.Ser4156=)
NM_001164508.2(NEB):c.12471C>T (p.Phe4157=) rs2153959866
NM_001164508.2(NEB):c.12474C>A (p.Thr4158=) rs1579059705
NM_001164508.2(NEB):c.12474C>G (p.Thr4158=) rs1579059705
NM_001164508.2(NEB):c.12474C>T (p.Thr4158=) rs1579059705
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001164508.2(NEB):c.12495A>G (p.Glu4165=)
NM_001164508.2(NEB):c.12498T>C (p.Val4166=) rs2153959726
NM_001164508.2(NEB):c.12501C>A (p.Val4167=)
NM_001164508.2(NEB):c.12501C>G (p.Val4167=) rs2153959703
NM_001164508.2(NEB):c.12504G>A (p.Leu4168=)
NM_001164508.2(NEB):c.12516T>C (p.Asn4172=)
NM_001164508.2(NEB):c.12522G>A (p.Leu4174=) rs1579058797
NM_001164508.2(NEB):c.12523C>T (p.Gln4175Ter) rs2153959601
NM_001164508.2(NEB):c.12525A>G (p.Gln4175=)
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001164508.2(NEB):c.12534+10A>G rs2153959502
NM_001164508.2(NEB):c.12534+11T>C
NM_001164508.2(NEB):c.12534+12C>T
NM_001164508.2(NEB):c.12534+13C>A
NM_001164508.2(NEB):c.12534+13C>G
NM_001164508.2(NEB):c.12534+13C>T
NM_001164508.2(NEB):c.12534+15A>C
NM_001164508.2(NEB):c.12534+16C>G
NM_001164508.2(NEB):c.12534+16C>T
NM_001164508.2(NEB):c.12534+17T>C rs2153959467
NM_001164508.2(NEB):c.12534+18A>G
NM_001164508.2(NEB):c.12534+19T>A
NM_001164508.2(NEB):c.12534+20C>G
NM_001164508.2(NEB):c.12534+3A>C
NM_001164508.2(NEB):c.12534+3A>G rs2097772131
NM_001164508.2(NEB):c.12534+7A>C
NM_001164508.2(NEB):c.12534+9C>G
NM_001164508.2(NEB):c.12534+9del
NM_001164508.2(NEB):c.12535-10C>A
NM_001164508.2(NEB):c.12535-10C>G rs2097760296
NM_001164508.2(NEB):c.12535-10C>T rs2097760296
NM_001164508.2(NEB):c.12535-13C>A
NM_001164508.2(NEB):c.12535-13C>G
NM_001164508.2(NEB):c.12535-13C>T rs2153958141
NM_001164508.2(NEB):c.12535-14C>T rs2153958163
NM_001164508.2(NEB):c.12535-15C>G
NM_001164508.2(NEB):c.12535-16T>A
NM_001164508.2(NEB):c.12535-17T>G
NM_001164508.2(NEB):c.12535-18T>C
NM_001164508.2(NEB):c.12535-19A>G
NM_001164508.2(NEB):c.12535-3C>T rs2153958050
NM_001164508.2(NEB):c.12538C>T (p.Leu4180=)
NM_001164508.2(NEB):c.12540G>A (p.Leu4180=)
NM_001164508.2(NEB):c.12543T>C (p.Tyr4181=)
NM_001164508.2(NEB):c.1254_1255del (p.Ser418fs)
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001164508.2(NEB):c.12554G>A (p.Trp4185Ter)
NM_001164508.2(NEB):c.12555del (p.Ala4184_Trp4185insTer) rs2097759896
NM_001164508.2(NEB):c.12558_12568del (p.Asn4186fs)
NM_001164508.2(NEB):c.12561A>G (p.Lys4187=) rs2153957983
NM_001164508.2(NEB):c.1257+13A>C rs75320668
NM_001164508.2(NEB):c.1257+13A>G
NM_001164508.2(NEB):c.1257+13_1257+15del
NM_001164508.2(NEB):c.1257+16G>A
NM_001164508.2(NEB):c.1257+16G>T
NM_001164508.2(NEB):c.1257+19A>G
NM_001164508.2(NEB):c.1257+2T>G rs2149365500
NM_001164508.2(NEB):c.1257+3A>G
NM_001164508.2(NEB):c.12572del (p.Asn4191fs)
NM_001164508.2(NEB):c.12573C>T (p.Asn4191=) rs1382871208
NM_001164508.2(NEB):c.12576C>T (p.Ile4192=)
NM_001164508.2(NEB):c.1258-11T>C
NM_001164508.2(NEB):c.1258-12T>G
NM_001164508.2(NEB):c.1258-12_1258-8dup
NM_001164508.2(NEB):c.1258-14G>T
NM_001164508.2(NEB):c.1258-18G>A
NM_001164508.2(NEB):c.1258-4G>A
NM_001164508.2(NEB):c.1258-9G>A
NM_001164508.2(NEB):c.12591T>C (p.Asp4197=) rs1553876898
NM_001164508.2(NEB):c.12594T>A (p.Thr4198=) rs1253550964
NM_001164508.2(NEB):c.12594T>C (p.Thr4198=) rs1253550964
NM_001164508.2(NEB):c.12597G>C (p.Pro4199=)
NM_001164508.2(NEB):c.12600G>A (p.Glu4200=)
NM_001164508.2(NEB):c.12600_12601del (p.Glu4200fs)
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001164508.2(NEB):c.12604C>T (p.Leu4202=) rs985777917
NM_001164508.2(NEB):c.12612C>A (p.Ala4204=)
NM_001164508.2(NEB):c.12612C>T (p.Ala4204=) rs1579048112
NM_001164508.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001164508.2(NEB):c.12621T>C (p.Asn4207=) rs1579047904
NM_001164508.2(NEB):c.12624C>T (p.Ala4208=)
NM_001164508.2(NEB):c.12633C>T (p.Ile4211=) rs2153957718
NM_001164508.2(NEB):c.12636C>T (p.Ser4212=) rs1553876762
NM_001164508.2(NEB):c.12638A>G (p.Asn4213Ser) rs2097758270
NM_001164508.2(NEB):c.12639+10A>G
NM_001164508.2(NEB):c.12639+12G>A rs1240233792
NM_001164508.2(NEB):c.12639+14A>G rs2153957603
NM_001164508.2(NEB):c.12639+16A>T
NM_001164508.2(NEB):c.12639+17T>C
NM_001164508.2(NEB):c.12639+1G>A rs2097758221
NM_001164508.2(NEB):c.12639+2T>C rs2153957684
NM_001164508.2(NEB):c.12639+4A>G
NM_001164508.2(NEB):c.12639+7G>A
NM_001164508.2(NEB):c.12639+7G>T rs1457365633
NM_001164508.2(NEB):c.12639+8G>A rs2153957654
NM_001164508.2(NEB):c.12639dup (p.Lys4214Ter)
NM_001164508.2(NEB):c.12640-11dup
NM_001164508.2(NEB):c.12640-13T>C
NM_001164508.2(NEB):c.12640-16T>C
NM_001164508.2(NEB):c.12640-19C>A
NM_001164508.2(NEB):c.12640-19C>T
NM_001164508.2(NEB):c.12640-1G>A rs2097713999
NM_001164508.2(NEB):c.12640-23_12640-20del
NM_001164508.2(NEB):c.12640-6C>A
NM_001164508.2(NEB):c.12640-6C>G rs1579019126
NM_001164508.2(NEB):c.12640-6C>T rs1579019126
NM_001164508.2(NEB):c.12640-8C>T
NM_001164508.2(NEB):c.12640-9C>T rs2097714656
NM_001164508.2(NEB):c.12645C>G (p.Leu4215=)
NM_001164508.2(NEB):c.12645C>T (p.Leu4215=) rs2153953836
NM_001164508.2(NEB):c.12648C>G (p.Tyr4216Ter) rs2097713802
NM_001164508.2(NEB):c.12648C>T (p.Tyr4216=) rs2097713802
NM_001164508.2(NEB):c.12651A>G (p.Gln4217=) rs2097713760
NM_001164508.2(NEB):c.12657C>T (p.Asp4219=) rs2153953767
NM_001164508.2(NEB):c.12659G>A (p.Trp4220Ter) rs2153953739
NM_001164508.2(NEB):c.12660G>A (p.Trp4220Ter)
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001164508.2(NEB):c.12669C>G (p.Ala4223=)
NM_001164508.2(NEB):c.1266T>C (p.Tyr422=)
NM_001164508.2(NEB):c.12672G>A (p.Lys4224=) rs2153953596
NM_001164508.2(NEB):c.12673C>T (p.Gln4225Ter)
NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu) rs2099604411
NM_001164508.2(NEB):c.12681C>T (p.Gly4227=)
NM_001164508.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001164508.2(NEB):c.12687C>T (p.Asp4229=) rs2153953490
NM_001164508.2(NEB):c.12699T>C (p.Asp4233=)
NM_001164508.2(NEB):c.1269A>G (p.Lys423=)
NM_001164508.2(NEB):c.126T>A (p.Tyr42Ter)
NM_001164508.2(NEB):c.126T>C (p.Tyr42=)
NM_001164508.2(NEB):c.12702C>T (p.Ala4234=)
NM_001164508.2(NEB):c.12709_12710del (p.Ile4237fs)
NM_001164508.2(NEB):c.12717C>T (p.His4239=) rs1553875334
NM_001164508.2(NEB):c.12718G>T (p.Ala4240Ser) rs561736266
NM_001164508.2(NEB):c.12720C>T (p.Ala4240=) rs1579015882
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001164508.2(NEB):c.12726C>T (p.Ala4242=) rs2153953306
NM_001164508.2(NEB):c.12730A>C (p.Arg4244=)
NM_001164508.2(NEB):c.12733G>T (p.Glu4245Ter) rs2097711830
NM_001164508.2(NEB):c.12736del (p.Ile4246fs) rs1176407542
NM_001164508.2(NEB):c.12738T>C (p.Ile4246=)
NM_001164508.2(NEB):c.12738del (p.Ile4246fs) rs2097711696
NM_001164508.2(NEB):c.1273T>G (p.Ser425Ala) rs1270235018
NM_001164508.2(NEB):c.12747+10C>T rs2153953179
NM_001164508.2(NEB):c.12747+11T>C
NM_001164508.2(NEB):c.12747+13C>A
NM_001164508.2(NEB):c.12747+13C>T
NM_001164508.2(NEB):c.12747+14T>C rs2153953167
NM_001164508.2(NEB):c.12747+15C>G
NM_001164508.2(NEB):c.12747+18_12747+22del
NM_001164508.2(NEB):c.12747+19T>G
NM_001164508.2(NEB):c.12747+20C>T
NM_001164508.2(NEB):c.12747+2T>C
NM_001164508.2(NEB):c.12747+5G>A rs1251007091
NM_001164508.2(NEB):c.12747+7T>G rs2153953193
NM_001164508.2(NEB):c.12748-10A>C
NM_001164508.2(NEB):c.12748-10A>G rs1553872572
NM_001164508.2(NEB):c.12748-12T>C
NM_001164508.2(NEB):c.12748-12T>G
NM_001164508.2(NEB):c.12748-18G>C
NM_001164508.2(NEB):c.12748-18G>T
NM_001164508.2(NEB):c.12748-1G>A
NM_001164508.2(NEB):c.12748-1_12761del rs2153940927
NM_001164508.2(NEB):c.12748-20A>G
NM_001164508.2(NEB):c.12748-4T>C rs2153940982
NM_001164508.2(NEB):c.12748-5T>C rs2153941009
NM_001164508.2(NEB):c.12748-6C>T rs2153941027
NM_001164508.2(NEB):c.12748-7A>G
NM_001164508.2(NEB):c.12748-8T>C
NM_001164508.2(NEB):c.12748-9C>T rs2153941069
NM_001164508.2(NEB):c.12750C>T (p.Tyr4250=) rs2153940966
NM_001164508.2(NEB):c.12753A>G (p.Lys4251=) rs2153940953
NM_001164508.2(NEB):c.12756C>T (p.Tyr4252=)
NM_001164508.2(NEB):c.12762A>G (p.Glu4254=)
NM_001164508.2(NEB):c.12765T>C (p.Gly4255=)
NM_001164508.2(NEB):c.12767dup (p.Tyr4256Ter)
NM_001164508.2(NEB):c.12768C>T (p.Tyr4256=) rs2153940868
NM_001164508.2(NEB):c.12774G>A (p.Lys4258=) rs2153940816
NM_001164508.2(NEB):c.12777A>G (p.Gln4259=) rs2153940796
NM_001164508.2(NEB):c.12782delinsTAACCTTCCACCAAC (p.Gly4261fs) rs2153940785
NM_001164508.2(NEB):c.12783C>T (p.Gly4261=) rs2153940770
NM_001164508.2(NEB):c.12784C>T (p.His4262Tyr) rs2097628697
NM_001164508.2(NEB):c.12786C>T (p.His4262=) rs2153940731
NM_001164508.2(NEB):c.127G>C (p.Glu43Gln) rs1578040162
NM_001164508.2(NEB):c.12800G>A (p.Arg4267His) rs1049044616
NM_001164508.2(NEB):c.12801C>T (p.Arg4267=) rs2097627587
NM_001164508.2(NEB):c.12804C>T (p.Thr4268=) rs2153940607
NM_001164508.2(NEB):c.12807A>C (p.Leu4269=) rs1211515336
NM_001164508.2(NEB):c.12807A>G (p.Leu4269=) rs1211515336
NM_001164508.2(NEB):c.12807A>T (p.Leu4269=) rs1211515336
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001164508.2(NEB):c.12813T>C (p.Asp4271=) rs2097626924
NM_001164508.2(NEB):c.12819C>G (p.Pro4273=)
NM_001164508.2(NEB):c.12819del (p.Lys4274fs) rs2153940505
NM_001164508.2(NEB):c.12820A>T (p.Lys4274Ter)
NM_001164508.2(NEB):c.12822G>A (p.Lys4274=) rs994912801
NM_001164508.2(NEB):c.12825A>T (p.Ser4275=)
NM_001164508.2(NEB):c.12828A>G (p.Val4276=) rs2153940460
NM_001164508.2(NEB):c.12832G>T (p.Ala4278Ser) rs1578941825
NM_001164508.2(NEB):c.12840T>C (p.His4280=) rs2153940378
NM_001164508.2(NEB):c.12843T>A (p.Ala4281=)
NM_001164508.2(NEB):c.12843T>G (p.Ala4281=)
NM_001164508.2(NEB):c.12849G>A (p.Lys4283=)
NM_001164508.2(NEB):c.12852C>A (p.Ile4284=)
NM_001164508.2(NEB):c.12864A>G (p.Arg4288=) rs1340260167
NM_001164508.2(NEB):c.12865del (p.Glu4289fs) rs2153940243
NM_001164508.2(NEB):c.12870T>C (p.Tyr4290=) rs2153940218
NM_001164508.2(NEB):c.12870_12871del (p.Tyr4290_Lys4291delinsTer)
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
NM_001164508.2(NEB):c.12879T>A (p.Ala4293=) rs2153940149
NM_001164508.2(NEB):c.1287T>C (p.Asp429=)
NM_001164508.2(NEB):c.128A>C (p.Glu43Ala) rs752660824
NM_001164508.2(NEB):c.12902A>T (p.His4301Leu) rs1553872062
NM_001164508.2(NEB):c.12906C>T (p.Asn4302=)
NM_001164508.2(NEB):c.12909A>C (p.Thr4303=) rs1578939596
NM_001164508.2(NEB):c.12909A>G (p.Thr4303=)
NM_001164508.2(NEB):c.12911C>T (p.Pro4304Leu) rs1456001729
NM_001164508.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001164508.2(NEB):c.12912G>C (p.Pro4304=)
NM_001164508.2(NEB):c.12912G>T (p.Pro4304=) rs886038430
NM_001164508.2(NEB):c.12913T>C (p.Leu4305=)
NM_001164508.2(NEB):c.12915G>A (p.Leu4305=)
NM_001164508.2(NEB):c.12918C>T (p.Asp4306=) rs2153939944
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001164508.2(NEB):c.12927A>G (p.Ser4309=) rs2153939850
NM_001164508.2(NEB):c.12930T>C (p.Ile4310=) rs2153939808
NM_001164508.2(NEB):c.12933T>C (p.Val4311=) rs1578938742
NM_001164508.2(NEB):c.1293G>A (p.Leu431=)
NM_001164508.2(NEB):c.12951G>A (p.Gln4317=) rs2153939690
NM_001164508.2(NEB):c.12954C>G (p.Val4318=) rs1553871881
NM_001164508.2(NEB):c.12954C>T (p.Val4318=) rs1553871881
NM_001164508.2(NEB):c.12957G>A (p.Leu4319=)
NM_001164508.2(NEB):c.12957G>C (p.Leu4319=) rs2153939636
NM_001164508.2(NEB):c.12957G>T (p.Leu4319=) rs2153939636
NM_001164508.2(NEB):c.12963C>T (p.Ser4321=) rs1286358276
NM_001164508.2(NEB):c.12969T>C (p.Ile4323=)
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
NM_001164508.2(NEB):c.12978C>T (p.Arg4326=)
NM_001164508.2(NEB):c.12981T>C (p.Asn4327=)
NM_001164508.2(NEB):c.12984T>G (p.Tyr4328Ter)
NM_001164508.2(NEB):c.12985C>T (p.Leu4329=)
NM_001164508.2(NEB):c.12990C>T (p.His4330=) rs2153939406
NM_001164508.2(NEB):c.12991C>T (p.Gln4331Ter) rs1326513178
NM_001164508.2(NEB):c.12993G>A (p.Gln4331=) rs2153939382
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter) rs2153939368
NM_001164508.2(NEB):c.12998C>A (p.Thr4333Lys) rs1319674362
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001164508.2(NEB):c.12999G>T (p.Thr4333=) rs1384738774
NM_001164508.2(NEB):c.129G>T (p.Glu43Asp) rs1290183134
NM_001164508.2(NEB):c.13005G>A (p.Leu4335=) rs2153939252
NM_001164508.2(NEB):c.13008A>G (p.Pro4336=) rs2097619223
NM_001164508.2(NEB):c.13011T>C (p.Asp4337=) rs2153939192
NM_001164508.2(NEB):c.13017C>T (p.Asn4339=) rs1165436206
NM_001164508.2(NEB):c.13020T>C (p.Asp4340=) rs2153939124
NM_001164508.2(NEB):c.13023G>A (p.Val4341=) rs2153939102
NM_001164508.2(NEB):c.13023G>T (p.Val4341=)
NM_001164508.2(NEB):c.13026C>T (p.Ile4342=) rs1421466863
NM_001164508.2(NEB):c.13029G>A (p.Gln4343=) rs2153939066
NM_001164508.2(NEB):c.13038A>G (p.Lys4346=) rs2153939047
NM_001164508.2(NEB):c.1303G>A (p.Val435Ile)
NM_001164508.2(NEB):c.1303G>T (p.Val435Leu) rs763255052
NM_001164508.2(NEB):c.13048C>T (p.Leu4350=) rs1578935610
NM_001164508.2(NEB):c.13050G>A (p.Leu4350=) rs2153938949
NM_001164508.2(NEB):c.13052A>G (p.Gln4351Arg) rs1553871396
NM_001164508.2(NEB):c.13053G>A (p.Gln4351=) rs2097617835
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=) rs1468240932
NM_001164508.2(NEB):c.13059+11T>C rs2153938707
NM_001164508.2(NEB):c.13059+12A>G
NM_001164508.2(NEB):c.13059+13T>C
NM_001164508.2(NEB):c.13059+15G>A
NM_001164508.2(NEB):c.13059+15G>C rs1272670020
NM_001164508.2(NEB):c.13059+15G>T
NM_001164508.2(NEB):c.13059+16C>G
NM_001164508.2(NEB):c.13059+18A>C
NM_001164508.2(NEB):c.13059+5G>A
NM_001164508.2(NEB):c.13059+7A>G rs2153938761
NM_001164508.2(NEB):c.13059+7AT[4]
NM_001164508.2(NEB):c.13060-10C>T rs2097571785
NM_001164508.2(NEB):c.13060-11C>A
NM_001164508.2(NEB):c.13060-13C>T
NM_001164508.2(NEB):c.13060-14T>C
NM_001164508.2(NEB):c.13060-15C>T
NM_001164508.2(NEB):c.13060-17T>G
NM_001164508.2(NEB):c.13060-18T>C
NM_001164508.2(NEB):c.13060-19G>A
NM_001164508.2(NEB):c.13060-2A>G rs2097571378
NM_001164508.2(NEB):c.13060-6A>C rs1195747738
NM_001164508.2(NEB):c.13060-7C>T
NM_001164508.2(NEB):c.13068C>A (p.Tyr4356Ter)
NM_001164508.2(NEB):c.13068C>T (p.Tyr4356=) rs2153931607
NM_001164508.2(NEB):c.13070_13071del (p.Lys4357fs)
NM_001164508.2(NEB):c.13071G>A (p.Lys4357=) rs2153931565
NM_001164508.2(NEB):c.13074A>G (p.Ser4358=) rs2097571157
NM_001164508.2(NEB):c.13077C>T (p.Asp4359=) rs199886070
NM_001164508.2(NEB):c.13078C>T (p.Leu4360=) rs761799512
NM_001164508.2(NEB):c.1307dup (p.Ser437fs)
NM_001164508.2(NEB):c.13080G>A (p.Leu4360=) rs1346547526
NM_001164508.2(NEB):c.13081G>T (p.Glu4361Ter)
NM_001164508.2(NEB):c.13083A>G (p.Glu4361=) rs2153931465
NM_001164508.2(NEB):c.13085G>A (p.Trp4362Ter) rs1449776440
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter) rs1278785558
NM_001164508.2(NEB):c.13101A>G (p.Gly4367=) rs1442619838
NM_001164508.2(NEB):c.13101A>T (p.Gly4367=)
NM_001164508.2(NEB):c.13103G>A (p.Trp4368Ter) rs2153931339
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.13107G>A (p.Leu4369=) rs1310978096
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn) rs1466400136
NM_001164508.2(NEB):c.13119T>C (p.Ser4373=)
NM_001164508.2(NEB):c.13123G>T (p.Glu4375Ter)
NM_001164508.2(NEB):c.13128G>A (p.Val4376=) rs760864074
NM_001164508.2(NEB):c.13131del (p.Met4377fs)
NM_001164508.2(NEB):c.13132A>T (p.Arg4378Ter)
NM_001164508.2(NEB):c.13134A>G (p.Arg4378=) rs1269546220
NM_001164508.2(NEB):c.13137G>A (p.Val4379=) rs2153931034
NM_001164508.2(NEB):c.13140G>A (p.Lys4380=) rs1486264146
NM_001164508.2(NEB):c.13142del (p.Asn4381fs) rs2153930968
NM_001164508.2(NEB):c.13143T>C (p.Asn4381=) rs1578893798
NM_001164508.2(NEB):c.13146C>T (p.Ala4382=)
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.13148del (p.Gln4383fs)
NM_001164508.2(NEB):c.13149G>A (p.Gln4383=) rs1427606021
NM_001164508.2(NEB):c.1314C>G (p.Phe438Leu) rs765769921
NM_001164508.2(NEB):c.1314C>T (p.Phe438=) rs765769921
NM_001164508.2(NEB):c.13152T>C (p.Asn4384=) rs2153930870
NM_001164508.2(NEB):c.13153_13156del (p.Asn4384_Leu4385insTer)
NM_001164508.2(NEB):c.13157T>A (p.Leu4386Ter) rs2153930856
NM_001164508.2(NEB):c.1315G>C (p.Glu439Gln)
NM_001164508.2(NEB):c.13161T>C (p.Asn4387=) rs2153930837
NM_001164508.2(NEB):c.13167G>A (p.Arg4389=) rs1283113332
NM_001164508.2(NEB):c.1316A>G (p.Glu439Gly) rs1553608272
NM_001164508.2(NEB):c.13170G>A (p.Leu4390=) rs1224185514
NM_001164508.2(NEB):c.13170G>T (p.Leu4390=) rs1224185514
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter) rs2153930733
NM_001164508.2(NEB):c.13182G>A (p.Lys4394=) rs1392218250
NM_001164508.2(NEB):c.13185T>C (p.Pro4395=) rs1344892267
NM_001164508.2(NEB):c.13185T>G (p.Pro4395=)
NM_001164508.2(NEB):c.13186G>T (p.Glu4396Ter)
NM_001164508.2(NEB):c.13188G>A (p.Glu4396=) rs1160127965
NM_001164508.2(NEB):c.13191C>G (p.Ala4397=) rs2153930542
NM_001164508.2(NEB):c.13191C>T (p.Ala4397=) rs2153930542
NM_001164508.2(NEB):c.13194C>A (p.Leu4398=) rs2153930518
NM_001164508.2(NEB):c.13194C>G (p.Leu4398=)
NM_001164508.2(NEB):c.13197A>G (p.Lys4399=) rs2153930494
NM_001164508.2(NEB):c.13200C>T (p.Phe4400=)
NM_001164508.2(NEB):c.13203C>A (p.Thr4401=)
NM_001164508.2(NEB):c.13203C>T (p.Thr4401=)
NM_001164508.2(NEB):c.13206C>T (p.Ser4402=) rs2153930427
NM_001164508.2(NEB):c.13212T>C (p.Val4404=)
NM_001164508.2(NEB):c.13215C>T (p.Asp4405=)
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=) rs1553867144
NM_001164508.2(NEB):c.13218C>G (p.Thr4406=) rs1553867144
NM_001164508.2(NEB):c.13218C>T (p.Thr4406=) rs1553867144
NM_001164508.2(NEB):c.13220del (p.Pro4407fs) rs2153930361
NM_001164508.2(NEB):c.13230C>T (p.Ile4410=) rs1488837816
NM_001164508.2(NEB):c.13233G>A (p.Gln4411=)
NM_001164508.2(NEB):c.13236A>C (p.Ala4412=)
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=) rs1578890458
NM_001164508.2(NEB):c.13239G>A (p.Lys4413=) rs2153930230
NM_001164508.2(NEB):c.1323A>G (p.Pro441=) rs2149359721
NM_001164508.2(NEB):c.13242C>A (p.Ile4414=) rs2097567357
NM_001164508.2(NEB):c.13245T>C (p.Asn4415=) rs2153930186
NM_001164508.2(NEB):c.13248T>C (p.Ala4416=) rs1553866979
NM_001164508.2(NEB):c.13251A>G (p.Val4417=) rs1246456851
NM_001164508.2(NEB):c.13251A>T (p.Val4417=)
NM_001164508.2(NEB):c.13257C>A (p.Ile4419=) rs1578890171
NM_001164508.2(NEB):c.13257C>T (p.Ile4419=) rs1578890171
NM_001164508.2(NEB):c.13263+10G>A rs2153929949
NM_001164508.2(NEB):c.13263+11G>A
NM_001164508.2(NEB):c.13263+13G>A
NM_001164508.2(NEB):c.13263+14G>A
NM_001164508.2(NEB):c.13263+14G>C
NM_001164508.2(NEB):c.13263+19T>C
NM_001164508.2(NEB):c.13263+19T>G
NM_001164508.2(NEB):c.13263+20G>T
NM_001164508.2(NEB):c.13263+4A>G rs2097566924
NM_001164508.2(NEB):c.13263+8C>A rs1553866957
NM_001164508.2(NEB):c.13263+8C>T rs1553866957
NM_001164508.2(NEB):c.13264-10T>C
NM_001164508.2(NEB):c.13264-11A>G
NM_001164508.2(NEB):c.13264-12C>G
NM_001164508.2(NEB):c.13264-13T>C
NM_001164508.2(NEB):c.13264-13dup
NM_001164508.2(NEB):c.13264-16T>C rs2153925816
NM_001164508.2(NEB):c.13264-16T>G
NM_001164508.2(NEB):c.13264-17T>C
NM_001164508.2(NEB):c.13264-17T>G
NM_001164508.2(NEB):c.13264-18G>A rs886038432
NM_001164508.2(NEB):c.13264-18G>C
NM_001164508.2(NEB):c.13264-18G>T
NM_001164508.2(NEB):c.13264-19C>T
NM_001164508.2(NEB):c.13264-4C>A
NM_001164508.2(NEB):c.13264-4C>T rs2153925657
NM_001164508.2(NEB):c.13264-5C>A rs1578873942
NM_001164508.2(NEB):c.13264-5C>T rs1578873942
NM_001164508.2(NEB):c.13264-6T>C rs2153925717
NM_001164508.2(NEB):c.13264-6dup
NM_001164508.2(NEB):c.13264-7T>C
NM_001164508.2(NEB):c.13264-9T>A rs1578874426
NM_001164508.2(NEB):c.13264-9T>C rs1578874426
NM_001164508.2(NEB):c.13266A>G (p.Pro4422=) rs2153925623
NM_001164508.2(NEB):c.13267T>C (p.Leu4423=) rs2153925607
NM_001164508.2(NEB):c.13268T>A (p.Leu4423Ter)
NM_001164508.2(NEB):c.13269G>A (p.Leu4423=) rs2153925593
NM_001164508.2(NEB):c.1326C>T (p.Tyr442=)
NM_001164508.2(NEB):c.13275C>G (p.Arg4425=) rs1382032864
NM_001164508.2(NEB):c.13275C>T (p.Arg4425=) rs1382032864
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13281C>A (p.Ala4427=)
NM_001164508.2(NEB):c.13281C>G (p.Ala4427=)
NM_001164508.2(NEB):c.13281C>T (p.Ala4427=) rs2153925456
NM_001164508.2(NEB):c.13283G>A (p.Trp4428Ter)
NM_001164508.2(NEB):c.13285G>T (p.Glu4429Ter) rs2097550591
NM_001164508.2(NEB):c.13287G>A (p.Glu4429=)
NM_001164508.2(NEB):c.13290A>G (p.Lys4430=)
NM_001164508.2(NEB):c.13292del (p.Glu4431fs)
NM_001164508.2(NEB):c.13293G>A (p.Glu4431=) rs2153925421
NM_001164508.2(NEB):c.13296G>A (p.Lys4432=) rs2153925400
NM_001164508.2(NEB):c.1329T>C (p.His443=) rs1235888148
NM_001164508.2(NEB):c.13302T>C (p.Asn4434=) rs2153925383
NM_001164508.2(NEB):c.13308C>T (p.Asn4436=) rs1553865962
NM_001164508.2(NEB):c.13311G>A (p.Val4437=)
NM_001164508.2(NEB):c.13314A>C (p.Pro4438=)
NM_001164508.2(NEB):c.13314A>G (p.Pro4438=) rs1272435160
NM_001164508.2(NEB):c.13317T>C (p.Ala4439=) rs1578873204
NM_001164508.2(NEB):c.13323_13324insGCAATGTGAACGTGCTAATGTGAACGTG (p.Pro4442delinsAlaMetTer) rs2153925252
NM_001164508.2(NEB):c.13326C>G (p.Pro4442=)
NM_001164508.2(NEB):c.13326C>T (p.Pro4442=) rs2153925229
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001164508.2(NEB):c.13328del (p.Leu4443fs) rs2153925181
NM_001164508.2(NEB):c.13333C>T (p.Leu4445=) rs2153925131
NM_001164508.2(NEB):c.13335G>A (p.Leu4445=)
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr) rs771832822
NM_001164508.2(NEB):c.1333del (p.His445fs) rs1576704575
NM_001164508.2(NEB):c.13341C>G (p.Ser4447=)
NM_001164508.2(NEB):c.13341_13362del (p.Lys4448fs) rs2153924986
NM_001164508.2(NEB):c.13347C>T (p.Ile4449=)
NM_001164508.2(NEB):c.13347del (p.Asn4450fs) rs2153925061
NM_001164508.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001164508.2(NEB):c.13350_13353delinsCGCT (p.Asn4450_Ala4451=) rs1578872605
NM_001164508.2(NEB):c.13353_13357delinsTCTGT (p.Gln4453Ter)
NM_001164508.2(NEB):c.13356G>A (p.Leu4452=)
NM_001164508.2(NEB):c.13362C>A (p.Ile4454=)
NM_001164508.2(NEB):c.13362C>T (p.Ile4454=) rs1553865873
NM_001164508.2(NEB):c.13365C>T (p.Ser4455=) rs2153924952
NM_001164508.2(NEB):c.13367A>G (p.Asn4456Ser) rs2097549978
NM_001164508.2(NEB):c.13368+10C>T
NM_001164508.2(NEB):c.13368+10_13368+11inv
NM_001164508.2(NEB):c.13368+11A>G rs112260335
NM_001164508.2(NEB):c.13368+15A>G
NM_001164508.2(NEB):c.13368+17C>A rs2153924717
NM_001164508.2(NEB):c.13368+17C>T
NM_001164508.2(NEB):c.13368+18A>G
NM_001164508.2(NEB):c.13368+18A>T
NM_001164508.2(NEB):c.13368+1G>A
NM_001164508.2(NEB):c.13368+20T>C
NM_001164508.2(NEB):c.13368+20T>G rs2153924683
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13368+8_13368+11delinsCGCG rs2153924824
NM_001164508.2(NEB):c.13368+8_13368+11delinsGCG rs2153924856
NM_001164508.2(NEB):c.13368+9_13368+11delinsACG rs2153924786
NM_001164508.2(NEB):c.13369-10C>A
NM_001164508.2(NEB):c.13369-14C>T
NM_001164508.2(NEB):c.13369-14CT[2] rs1553865749
NM_001164508.2(NEB):c.13369-15A>C
NM_001164508.2(NEB):c.13369-17G>A
NM_001164508.2(NEB):c.13369-17G>T rs2153924464
NM_001164508.2(NEB):c.13369-20_13369-12dup
NM_001164508.2(NEB):c.13369-2A>C
NM_001164508.2(NEB):c.13369-2A>G
NM_001164508.2(NEB):c.13369-2_13374del
NM_001164508.2(NEB):c.13369-8G>A rs2153924322
NM_001164508.2(NEB):c.13369-9T>C rs1553865725
NM_001164508.2(NEB):c.13369-9del
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001164508.2(NEB):c.13374C>A (p.Arg4458=) rs1578869899
NM_001164508.2(NEB):c.13374C>T (p.Arg4458=) rs1578869899
NM_001164508.2(NEB):c.13380G>A (p.Gln4460=) rs2153924160
NM_001164508.2(NEB):c.13381C>T (p.Gln4461Ter)
NM_001164508.2(NEB):c.13385del (p.Ala4462fs)
NM_001164508.2(NEB):c.13386T>G (p.Ala4462=) rs1578869691
NM_001164508.2(NEB):c.13389G>A (p.Trp4463Ter) rs2153924098
NM_001164508.2(NEB):c.13392A>G (p.Glu4464=) rs2153924071
NM_001164508.2(NEB):c.13395T>C (p.Asp4465=) rs2153924042
NM_001164508.2(NEB):c.13398C>A (p.Val4466=) rs2153924015
NM_001164508.2(NEB):c.13399A>T (p.Lys4467Ter)
NM_001164508.2(NEB):c.133_146del (p.Ser45fs) rs1321522421
NM_001164508.2(NEB):c.13401G>A (p.Lys4467=)
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001164508.2(NEB):c.13407T>C (p.Thr4469=) rs2153923967
NM_001164508.2(NEB):c.13407T>G (p.Thr4469=) rs2153923967
NM_001164508.2(NEB):c.13407_13416del (p.Gly4470fs) rs2153923895
NM_001164508.2(NEB):c.13411dup (p.Tyr4471fs)
NM_001164508.2(NEB):c.13413T>A (p.Tyr4471Ter)
NM_001164508.2(NEB):c.13413T>C (p.Tyr4471=) rs2153923925
NM_001164508.2(NEB):c.13417del (p.Leu4473fs) rs2153923874
NM_001164508.2(NEB):c.13419G>A (p.Leu4473=) rs2153923838
NM_001164508.2(NEB):c.13420C>A (p.Arg4474=) rs1578869371
NM_001164508.2(NEB):c.13420C>T (p.Arg4474Ter) rs1578869371
NM_001164508.2(NEB):c.13422A>C (p.Arg4474=) rs2153923773
NM_001164508.2(NEB):c.13425A>G (p.Ala4475=)
NM_001164508.2(NEB):c.13428T>C (p.Asp4476=) rs1578869264
NM_001164508.2(NEB):c.13431C>T (p.Ala4477=) rs2153923722
NM_001164508.2(NEB):c.13434T>C (p.Ile4478=)
NM_001164508.2(NEB):c.13437G>A (p.Gly4479=) rs2153923647
NM_001164508.2(NEB):c.13437G>C (p.Gly4479=)
NM_001164508.2(NEB):c.13437del (p.Ile4480fs)
NM_001164508.2(NEB):c.13441C>T (p.Gln4481Ter) rs2097548467
NM_001164508.2(NEB):c.13446T>C (p.His4482=) rs2153923589
NM_001164508.2(NEB):c.13449C>G (p.Ala4483=) rs2153923557
NM_001164508.2(NEB):c.13452G>A (p.Lys4484=) rs2153923526
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001164508.2(NEB):c.13457C>T (p.Ser4486Phe) rs2097548401
NM_001164508.2(NEB):c.13458C>G (p.Ser4486=) rs2153923428
NM_001164508.2(NEB):c.13458C>T (p.Ser4486=) rs2153923428
NM_001164508.2(NEB):c.13459A>C (p.Arg4487=)
NM_001164508.2(NEB):c.13460G>T (p.Arg4487Met) rs1553865625
NM_001164508.2(NEB):c.13461G>A (p.Arg4487=) rs2153923374
NM_001164508.2(NEB):c.13464T>C (p.Asp4488=) rs2153923341
NM_001164508.2(NEB):c.13465A>C (p.Ile4489Leu) rs1553865611
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001164508.2(NEB):c.13467T>C (p.Ile4489=) rs2153923267
NM_001164508.2(NEB):c.13475_13476delinsTT (p.Asp4492Val) rs1553865579
NM_001164508.2(NEB):c.13476+10C>A rs1578868114
NM_001164508.2(NEB):c.13476+10C>T rs1578868114
NM_001164508.2(NEB):c.13476+11C>A
NM_001164508.2(NEB):c.13476+11C>T
NM_001164508.2(NEB):c.13476+13C>T
NM_001164508.2(NEB):c.13476+14C>T
NM_001164508.2(NEB):c.13476+15T>C
NM_001164508.2(NEB):c.13476+16_13476+17insA
NM_001164508.2(NEB):c.13476+16_13476+17insG rs1064794509
NM_001164508.2(NEB):c.13476+17C>G
NM_001164508.2(NEB):c.13476+18C>T
NM_001164508.2(NEB):c.13476+19C>A
NM_001164508.2(NEB):c.13476+1G>A rs1578868550
NM_001164508.2(NEB):c.13476+6A>C
NM_001164508.2(NEB):c.13476+7G>A rs1553865548
NM_001164508.2(NEB):c.13476+7G>C
NM_001164508.2(NEB):c.13476+7dup rs2153923160
NM_001164508.2(NEB):c.13476+8C>T rs2153923069
NM_001164508.2(NEB):c.13477-10C>T rs2153903738
NM_001164508.2(NEB):c.13477-11A>G
NM_001164508.2(NEB):c.13477-12C>A
NM_001164508.2(NEB):c.13477-12C>T rs2153903775
NM_001164508.2(NEB):c.13477-14T>C rs2153903799
NM_001164508.2(NEB):c.13477-19T>C
NM_001164508.2(NEB):c.13477-20T>A
NM_001164508.2(NEB):c.13477-2A>G rs2153903681
NM_001164508.2(NEB):c.13477-2A>T
NM_001164508.2(NEB):c.13477-7C>T rs1328191142
NM_001164508.2(NEB):c.13477-9A>G rs1553862786
NM_001164508.2(NEB):c.13480C>T (p.Leu4494=) rs1462287804
NM_001164508.2(NEB):c.13482G>A (p.Leu4494=) rs2153903655
NM_001164508.2(NEB):c.13482G>C (p.Leu4494=)
NM_001164508.2(NEB):c.13482G>T (p.Leu4494=)
NM_001164508.2(NEB):c.13485C>T (p.Tyr4495=)
NM_001164508.2(NEB):c.13491T>G (p.Thr4497=) rs2153903644
NM_001164508.2(NEB):c.13494T>C (p.Ala4498=) rs2153903631
NM_001164508.2(NEB):c.13497T>C (p.Tyr4499=) rs2153903611
NM_001164508.2(NEB):c.13500G>A (p.Glu4500=)
NM_001164508.2(NEB):c.13503A>G (p.Lys4501=) rs2153903600
NM_001164508.2(NEB):c.13504C>T (p.Gln4502Ter) rs2153903589
NM_001164508.2(NEB):c.13507_13510del (p.Lys4503fs)
NM_001164508.2(NEB):c.13509A>G (p.Lys4503=)
NM_001164508.2(NEB):c.13509del (p.Gly4504fs) rs2153903564
NM_001164508.2(NEB):c.13512C>A (p.Gly4504=)
NM_001164508.2(NEB):c.13515T>C (p.His4505=) rs2153903552
NM_001164508.2(NEB):c.13518C>T (p.Tyr4506=) rs2153903542
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001164508.2(NEB):c.13524C>T (p.Gly4508=)
NM_001164508.2(NEB):c.13525del (p.Cys4509fs) rs2097453337
NM_001164508.2(NEB):c.13530C>T (p.Arg4510=) rs2153903504
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001164508.2(NEB):c.13536C>T (p.Ala4512=) rs2153903470
NM_001164508.2(NEB):c.13537A>T (p.Lys4513Ter) rs2097452910
NM_001164508.2(NEB):c.13545C>T (p.Asp4515=) rs2153903432
NM_001164508.2(NEB):c.13548T>A (p.Pro4516=)
NM_001164508.2(NEB):c.13548T>C (p.Pro4516=) rs1578803539
NM_001164508.2(NEB):c.13548T>G (p.Pro4516=) rs1578803539
NM_001164508.2(NEB):c.13551A>G (p.Lys4517=) rs1578803460
NM_001164508.2(NEB):c.13551dup (p.Leu4518fs)
NM_001164508.2(NEB):c.13552C>T (p.Leu4518=) rs2153903401
NM_001164508.2(NEB):c.13554G>A (p.Leu4518=)
NM_001164508.2(NEB):c.13554G>T (p.Leu4518=)
NM_001164508.2(NEB):c.13557T>C (p.Val4519=) rs2153903393
NM_001164508.2(NEB):c.13560G>A (p.Trp4520Ter)
NM_001164508.2(NEB):c.13563A>G (p.Ala4521=) rs2153903385
NM_001164508.2(NEB):c.13566A>C (p.Ala4522=) rs2153903373
NM_001164508.2(NEB):c.13566A>G (p.Ala4522=) rs2153903373
NM_001164508.2(NEB):c.13569T>C (p.Asn4523=) rs2097452334
NM_001164508.2(NEB):c.1356A>G (p.Gln452=) rs2149359064
NM_001164508.2(NEB):c.13572G>A (p.Val4524=)
NM_001164508.2(NEB):c.13572G>T (p.Val4524=) rs2153903355
NM_001164508.2(NEB):c.13573T>C (p.Leu4525=) rs1057523201
NM_001164508.2(NEB):c.13575G>A (p.Leu4525=) rs2153903335
NM_001164508.2(NEB):c.13587T>C (p.Asn4529=)
NM_001164508.2(NEB):c.13590C>T (p.Asp4530=) rs2153903319
NM_001164508.2(NEB):c.13591A>C (p.Arg4531=) rs1578803178
NM_001164508.2(NEB):c.13593G>C (p.Arg4531Ser) rs2097451987
NM_001164508.2(NEB):c.13593del (p.Arg4531fs) rs2153903290
NM_001164508.2(NEB):c.13594C>T (p.Leu4532=) rs2153903271
NM_001164508.2(NEB):c.13596G>A (p.Leu4532=) rs886038436
NM_001164508.2(NEB):c.13599C>G (p.Tyr4533Ter) rs2153903239
NM_001164508.2(NEB):c.13599C>T (p.Tyr4533=)
NM_001164508.2(NEB):c.1359C>T (p.Asn453=) rs2149359026
NM_001164508.2(NEB):c.13605G>A (p.Lys4535=)
NM_001164508.2(NEB):c.13611C>T (p.Tyr4537=)
NM_001164508.2(NEB):c.13614C>T (p.Asn4538=) rs1250752053
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn) rs1578802735
NM_001164508.2(NEB):c.13617C>T (p.Asp4539=) rs2153903185
NM_001164508.2(NEB):c.13620C>T (p.His4540=)
NM_001164508.2(NEB):c.13623A>G (p.Lys4541=)
NM_001164508.2(NEB):c.13626C>A (p.Ala4542=) rs201225445
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001164508.2(NEB):c.13626C>T (p.Ala4542=) rs201225445
NM_001164508.2(NEB):c.13629G>A (p.Lys4543=) rs2097451170
NM_001164508.2(NEB):c.13631_13634dup (p.Ile4546fs) rs2153903111
NM_001164508.2(NEB):c.13635C>T (p.Ser4545=)
NM_001164508.2(NEB):c.13638C>A (p.Ile4546=) rs1225197770
NM_001164508.2(NEB):c.13644G>T (p.Val4548=) rs2153903076
NM_001164508.2(NEB):c.1365+14C>G
NM_001164508.2(NEB):c.1365+14C>T
NM_001164508.2(NEB):c.1365+15A>G
NM_001164508.2(NEB):c.1365+16A>G
NM_001164508.2(NEB):c.1365+17T>C
NM_001164508.2(NEB):c.1365+1G>T
NM_001164508.2(NEB):c.1365+20_1365+23del
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001164508.2(NEB):c.13651G>C (p.Val4551Leu) rs1553862399
NM_001164508.2(NEB):c.13653G>A (p.Val4551=) rs1553862349
NM_001164508.2(NEB):c.13653G>C (p.Val4551=)
NM_001164508.2(NEB):c.13653G>T (p.Val4551=) rs1553862349
NM_001164508.2(NEB):c.13656C>A (p.Ser4552=)
NM_001164508.2(NEB):c.13656C>T (p.Ser4552=) rs2153903014
NM_001164508.2(NEB):c.1366-11_1366-9del
NM_001164508.2(NEB):c.1366-11del rs2149354473
NM_001164508.2(NEB):c.1366-12T>G rs1057523429
NM_001164508.2(NEB):c.1366-13C>T
NM_001164508.2(NEB):c.1366-13del
NM_001164508.2(NEB):c.1366-16T>C
NM_001164508.2(NEB):c.1366-17A>G
NM_001164508.2(NEB):c.1366-2A>G rs1553607505
NM_001164508.2(NEB):c.1366-3T>C
NM_001164508.2(NEB):c.1366-4A>G rs886038438
NM_001164508.2(NEB):c.1366-7C>T rs2149354112
NM_001164508.2(NEB):c.1366-7_1366-5del rs1317027054
NM_001164508.2(NEB):c.1366-8C>T rs1054288744
NM_001164508.2(NEB):c.1366-9_1366-8del rs773970341
NM_001164508.2(NEB):c.13662C>T (p.Ser4554=) rs1553862322
NM_001164508.2(NEB):c.13670A>G (p.Lys4557Arg)
NM_001164508.2(NEB):c.13677T>C (p.Gly4559=) rs2153902979
NM_001164508.2(NEB):c.13677T>G (p.Gly4559=)
NM_001164508.2(NEB):c.13680G>A (p.Gln4560=) rs886038439
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001164508.2(NEB):c.13686G>A (p.Leu4562=)
NM_001164508.2(NEB):c.13689A>C (p.Ala4563=) rs2153902957
NM_001164508.2(NEB):c.13695T>C (p.Asp4565=) rs2153902950
NM_001164508.2(NEB):c.13698G>A (p.Val4566=) rs2153902941
NM_001164508.2(NEB):c.13701C>T (p.Asp4567=)
NM_001164508.2(NEB):c.13704T>A (p.Tyr4568Ter) rs1553862274
NM_001164508.2(NEB):c.13704T>G (p.Tyr4568Ter)
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001164508.2(NEB):c.13707C>T (p.Arg4569=) rs2153902912
NM_001164508.2(NEB):c.1370_1386delinsTCTA (p.Asn457fs)
NM_001164508.2(NEB):c.13710T>C (p.His4570=) rs2153902905
NM_001164508.2(NEB):c.13713C>A (p.Tyr4571Ter)
NM_001164508.2(NEB):c.13713C>T (p.Tyr4571=) rs2153902894
NM_001164508.2(NEB):c.13716G>A (p.Leu4572=)
NM_001164508.2(NEB):c.13716G>T (p.Leu4572=)
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001164508.2(NEB):c.13719C>T (p.His4573=) rs2153902868
NM_001164508.2(NEB):c.13719_13721delinsTCG (p.His4574Arg) rs2153902861
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001164508.2(NEB):c.13722C>T (p.His4574=) rs2153902846
NM_001164508.2(NEB):c.13728T>A (p.Ser4576=) rs2153902833
NM_001164508.2(NEB):c.13728T>G (p.Ser4576=) rs2153902833
NM_001164508.2(NEB):c.1372T>C (p.Tyr458His) rs2149353691
NM_001164508.2(NEB):c.13731C>T (p.Cys4577=) rs2153902820
NM_001164508.2(NEB):c.13734del (p.Asp4580fs)
NM_001164508.2(NEB):c.13737C>G (p.Pro4579=)
NM_001164508.2(NEB):c.13737C>T (p.Pro4579=) rs1578801445
NM_001164508.2(NEB):c.13743G>A (p.Gln4581=)
NM_001164508.2(NEB):c.13746T>C (p.Asn4582=) rs2153902789
NM_001164508.2(NEB):c.13749T>C (p.Asp4583=) rs2153902762
NM_001164508.2(NEB):c.1374C>G (p.Tyr458Ter)
NM_001164508.2(NEB):c.13751_13752dup (p.Ile4585Ter) rs2153902749
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr) rs1553862132
NM_001164508.2(NEB):c.13755C>A (p.Ile4585=)
NM_001164508.2(NEB):c.13755C>T (p.Ile4585=) rs2153902709
NM_001164508.2(NEB):c.13756C>T (p.Gln4586Ter) rs1560283028
NM_001164508.2(NEB):c.13761C>T (p.Ala4587=) rs2153902680
NM_001164508.2(NEB):c.13761del (p.Arg4588fs)
NM_001164508.2(NEB):c.13762A>C (p.Arg4588=)
NM_001164508.2(NEB):c.13773C>A (p.Tyr4591Ter) rs1553862114
NM_001164508.2(NEB):c.13773C>T (p.Tyr4591=) rs1553862114
NM_001164508.2(NEB):c.13776C>T (p.Asp4592=) rs2153902632
NM_001164508.2(NEB):c.13777del (p.Leu4593fs)
NM_001164508.2(NEB):c.13780C>T (p.Gln4594Ter) rs2097449114
NM_001164508.2(NEB):c.13782G>A (p.Gln4594=) rs2153902580
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=) rs1578800572
NM_001164508.2(NEB):c.13788+10T>C rs2153902503
NM_001164508.2(NEB):c.13788+11C>G
NM_001164508.2(NEB):c.13788+11C>T
NM_001164508.2(NEB):c.13788+12C>A
NM_001164508.2(NEB):c.13788+13C>T
NM_001164508.2(NEB):c.13788+14C>T
NM_001164508.2(NEB):c.13788+15C>T
NM_001164508.2(NEB):c.13788+15del
NM_001164508.2(NEB):c.13788+17G>A
NM_001164508.2(NEB):c.13788+18G>A rs1057523329
NM_001164508.2(NEB):c.13788+1G>A rs1553862061
NM_001164508.2(NEB):c.13788+1G>C rs1553862061
NM_001164508.2(NEB):c.13788+2dup rs2153902530
NM_001164508.2(NEB):c.13788+9_13788+12delinsATCG rs2153902431
NM_001164508.2(NEB):c.13788+9_13788+12delinsCG rs2153902466
NM_001164508.2(NEB):c.1387G>A (p.Glu463Lys)
NM_001164508.2(NEB):c.1394A>G (p.Asp465Gly)
NM_001164508.2(NEB):c.1396A>G (p.Arg466Gly)
NM_001164508.2(NEB):c.139A>G (p.Thr47Ala)
NM_001164508.2(NEB):c.1404A>G (p.Lys468=) rs2099602836
NM_001164508.2(NEB):c.1405G>T (p.Gly469Cys)
NM_001164508.2(NEB):c.1406G>C (p.Gly469Ala)
NM_001164508.2(NEB):c.1409T>G (p.Phe470Cys)
NM_001164508.2(NEB):c.1411T>C (p.Phe471Leu)
NM_001164508.2(NEB):c.1415_1416insACATTCAAAGT (p.Gln473fs)
NM_001164508.2(NEB):c.1416T>G (p.Pro472=) rs2149352479
NM_001164508.2(NEB):c.1417C>T (p.Gln473Ter)
NM_001164508.2(NEB):c.1419G>A (p.Gln473=)
NM_001164508.2(NEB):c.1419G>T (p.Gln473His) rs761722604
NM_001164508.2(NEB):c.1422C>A (p.Thr474=)
NM_001164508.2(NEB):c.1422C>T (p.Thr474=) rs376008654
NM_001164508.2(NEB):c.1428T>C (p.Thr476=) rs1265121813
NM_001164508.2(NEB):c.1434A>G (p.Glu478=) rs2149351968
NM_001164508.2(NEB):c.1437T>C (p.Tyr479=) rs2149351922
NM_001164508.2(NEB):c.1444A>G (p.Ile482Val) rs945055152
NM_001164508.2(NEB):c.1453C>T (p.Leu485=)
NM_001164508.2(NEB):c.1455A>G (p.Leu485=)
NM_001164508.2(NEB):c.1459C>T (p.Gln487Ter)
NM_001164508.2(NEB):c.1460A>T (p.Gln487Leu)
NM_001164508.2(NEB):c.1461G>T (p.Gln487His)
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
NM_001164508.2(NEB):c.1470+11A>G
NM_001164508.2(NEB):c.1470+15T>C
NM_001164508.2(NEB):c.1470+17A>G
NM_001164508.2(NEB):c.1470+17A>T
NM_001164508.2(NEB):c.1470+1G>C rs1220787593
NM_001164508.2(NEB):c.1470+7C>A
NM_001164508.2(NEB):c.1470+8T>G
NM_001164508.2(NEB):c.1470+9G>A rs1387821584
NM_001164508.2(NEB):c.1471-10T>C
NM_001164508.2(NEB):c.1471-11del
NM_001164508.2(NEB):c.1471-15T>C
NM_001164508.2(NEB):c.1471-16C>A
NM_001164508.2(NEB):c.1471-16C>G
NM_001164508.2(NEB):c.1471-17C>T
NM_001164508.2(NEB):c.1471-18G>T
NM_001164508.2(NEB):c.1471-1G>A rs1553605995
NM_001164508.2(NEB):c.1471-3C>T
NM_001164508.2(NEB):c.1471-4A>G rs2149336377
NM_001164508.2(NEB):c.1471-6C>T rs1176788819
NM_001164508.2(NEB):c.1473C>T (p.His491=)
NM_001164508.2(NEB):c.1476C>T (p.Thr492=) rs761741250
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001164508.2(NEB):c.14827-2A>C
NM_001164508.2(NEB):c.1482A>C (p.Lys494Asn)
NM_001164508.2(NEB):c.1485C>T (p.Val495=) rs2149335902
NM_001164508.2(NEB):c.1506C>T (p.Phe502=)
NM_001164508.2(NEB):c.1509C>T (p.Thr503=)
NM_001164508.2(NEB):c.1525C>T (p.Pro509Ser)
NM_001164508.2(NEB):c.1526del (p.Pro509fs) rs1181351466
NM_001164508.2(NEB):c.1529_1533del (p.Val510fs) rs2099599008
NM_001164508.2(NEB):c.1531C>G (p.Leu511Val)
NM_001164508.2(NEB):c.1531C>T (p.Leu511=)
NM_001164508.2(NEB):c.1535T>A (p.Leu512Gln) rs2099599001
NM_001164508.2(NEB):c.1536A>C (p.Leu512=)
NM_001164508.2(NEB):c.1536A>G (p.Leu512=)
NM_001164508.2(NEB):c.1537C>T (p.Gln513Ter) rs1171781332
NM_001164508.2(NEB):c.1538A>G (p.Gln513Arg)
NM_001164508.2(NEB):c.153T>A (p.Ala51=) rs940439703
NM_001164508.2(NEB):c.153T>C (p.Ala51=)
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.1541C>G (p.Ala514Gly)
NM_001164508.2(NEB):c.1545A>C (p.Gln515His)
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.1555A>T (p.Lys519Ter)
NM_001164508.2(NEB):c.1557A>G (p.Lys519=)
NM_001164508.2(NEB):c.1558C>T (p.Gln520Ter) rs757999917
NM_001164508.2(NEB):c.155T>G (p.Leu52Arg)
NM_001164508.2(NEB):c.1566T>C (p.Ser522=) rs2149333531
NM_001164508.2(NEB):c.1568dup (p.Asp523fs)
NM_001164508.2(NEB):c.1569+11C>G
NM_001164508.2(NEB):c.1569+12T>C
NM_001164508.2(NEB):c.1569+13A>G
NM_001164508.2(NEB):c.1569+15C>G
NM_001164508.2(NEB):c.1569+15C>T
NM_001164508.2(NEB):c.1569+16T>A
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.1569+1G>C
NM_001164508.2(NEB):c.1569+3A>T rs1576671314
NM_001164508.2(NEB):c.1569+8C>A
NM_001164508.2(NEB):c.1569+8C>T rs2099598770
NM_001164508.2(NEB):c.1570-11C>G
NM_001164508.2(NEB):c.1570-12T>C
NM_001164508.2(NEB):c.1570-13C>T
NM_001164508.2(NEB):c.1570-15C>T
NM_001164508.2(NEB):c.1570-1G>C rs1390328608
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.1570-2_1574del rs1553603933
NM_001164508.2(NEB):c.1570-4A>G rs752643338
NM_001164508.2(NEB):c.1570-5C>T
NM_001164508.2(NEB):c.1570-7G>C rs1576637428
NM_001164508.2(NEB):c.1576T>C (p.Tyr526His)
NM_001164508.2(NEB):c.1580A>G (p.Lys527Arg) rs773132178
NM_001164508.2(NEB):c.1585A>G (p.Lys529Glu)
NM_001164508.2(NEB):c.1587A>G (p.Lys529=)
NM_001164508.2(NEB):c.1590T>C (p.His530=)
NM_001164508.2(NEB):c.1593A>G (p.Glu531=) rs2149300514
NM_001164508.2(NEB):c.1596T>C (p.Ser532=)
NM_001164508.2(NEB):c.1602G>A (p.Lys534=)
NM_001164508.2(NEB):c.1605del (p.Phe535fs)
NM_001164508.2(NEB):c.1610G>A (p.Cys537Tyr) rs935982815
NM_001164508.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001164508.2(NEB):c.1620C>G (p.Pro540=) rs776014034
NM_001164508.2(NEB):c.1622C>G (p.Pro541Arg)
NM_001164508.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001164508.2(NEB):c.1624G>T (p.Asp542Tyr)
NM_001164508.2(NEB):c.1626T>C (p.Asp542=)
NM_001164508.2(NEB):c.1629T>C (p.Thr543=)
NM_001164508.2(NEB):c.1632T>C (p.Pro544=)
NM_001164508.2(NEB):c.1638dup (p.Ile547fs)
NM_001164508.2(NEB):c.1641C>T (p.Ile547=) rs778381002
NM_001164508.2(NEB):c.1644G>A (p.Gln548=) rs2149298942
NM_001164508.2(NEB):c.1649_1650del (p.Lys550fs)
NM_001164508.2(NEB):c.1650A>G (p.Lys550=)
NM_001164508.2(NEB):c.1654A>G (p.Asn552Asp) rs2099590400
NM_001164508.2(NEB):c.1659_1662dup (p.Asn555delinsLeuTer)
NM_001164508.2(NEB):c.1661A>G (p.Tyr554Cys)
NM_001164508.2(NEB):c.1665C>T (p.Asn555=)
NM_001164508.2(NEB):c.1668G>A (p.Leu556=) rs2149298109
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.16705-14G>A
NM_001164508.2(NEB):c.16705-14_16705-13del
NM_001164508.2(NEB):c.16705-16G>A
NM_001164508.2(NEB):c.16705-18C>A
NM_001164508.2(NEB):c.16705-18C>G
NM_001164508.2(NEB):c.16705-24_16705-19del
NM_001164508.2(NEB):c.16705-5T>G
NM_001164508.2(NEB):c.16707C>T (p.Ala5569=) rs2096826749
NM_001164508.2(NEB):c.16707_16710dup (p.Tyr5571fs) rs2153808894
NM_001164508.2(NEB):c.16708C>T (p.Leu5570Phe)
NM_001164508.2(NEB):c.16719T>C (p.Ala5573=) rs2153808873
NM_001164508.2(NEB):c.16722C>T (p.Asp5574=) rs1220652604
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe) rs2153808846
NM_001164508.2(NEB):c.1672_1674+2del rs1057516739
NM_001164508.2(NEB):c.16736G>A (p.Arg5579His)
NM_001164508.2(NEB):c.16737T>C (p.Arg5579=)
NM_001164508.2(NEB):c.1674+13T>A
NM_001164508.2(NEB):c.1674+13T>C
NM_001164508.2(NEB):c.1674+14G>A
NM_001164508.2(NEB):c.1674+15C>T
NM_001164508.2(NEB):c.1674+16_1674+18del
NM_001164508.2(NEB):c.1674+1G>A rs750585238
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.1674+2T>G
NM_001164508.2(NEB):c.1674+3A>C rs2099590253
NM_001164508.2(NEB):c.1674+9C>A rs762129201
NM_001164508.2(NEB):c.1674+9C>T rs762129201
NM_001164508.2(NEB):c.16746C>G (p.Gly5582=) rs1437705900
NM_001164508.2(NEB):c.1674T>C (p.Asp558=) rs376597690
NM_001164508.2(NEB):c.1675-11T>G
NM_001164508.2(NEB):c.1675-14A>T
NM_001164508.2(NEB):c.1675-15A>G
NM_001164508.2(NEB):c.1675-2A>G
NM_001164508.2(NEB):c.1675-7del rs749876066
NM_001164508.2(NEB):c.1675-8_1675-7del rs749876066
NM_001164508.2(NEB):c.1675-9T>C rs75118047
NM_001164508.2(NEB):c.16761G>A (p.Gly5587=) rs2153808696
NM_001164508.2(NEB):c.16764T>A (p.Ser5588=) rs2153808672
NM_001164508.2(NEB):c.16765C>T (p.Pro5589Ser) rs1490534583
NM_001164508.2(NEB):c.1676del (p.Asn559fs) rs1576600442
NM_001164508.2(NEB):c.16773G>A (p.Val5591=) rs2153808622
NM_001164508.2(NEB):c.16774T>C (p.Leu5592=) rs1427467881
NM_001164508.2(NEB):c.16776G>A (p.Leu5592=)
NM_001164508.2(NEB):c.16779del (p.Val5594fs)
NM_001164508.2(NEB):c.16780G>A (p.Val5594Ile)
NM_001164508.2(NEB):c.16782C>A (p.Val5594=) rs200335438
NM_001164508.2(NEB):c.16782C>T (p.Val5594=)
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr) rs749713442
NM_001164508.2(NEB):c.16789G>T (p.Ala5597Ser) rs749713442
NM_001164508.2(NEB):c.16792C>A (p.Gln5598Lys)
NM_001164508.2(NEB):c.16800C>T (p.Ile5600=)
NM_001164508.2(NEB):c.16803T>C (p.Phe5601=) rs2096824509
NM_001164508.2(NEB):c.16803_16804del (p.Phe5601fs) rs2153808479
NM_001164508.2(NEB):c.16806T>C (p.Cys5602=) rs2153808470
NM_001164508.2(NEB):c.16819C>T (p.Arg5607Trp)
NM_001164508.2(NEB):c.16820G>A (p.Arg5607Gln)
NM_001164508.2(NEB):c.16824G>A (p.Thr5608=)
NM_001164508.2(NEB):c.16826C>G (p.Pro5609Arg)
NM_001164508.2(NEB):c.16830G>C (p.Val5610=) rs2153808322
NM_001164508.2(NEB):c.16837C>G (p.Leu5613Val)
NM_001164508.2(NEB):c.1684A>G (p.Lys562Glu)
NM_001164508.2(NEB):c.16856T>C (p.Val5619Ala)
NM_001164508.2(NEB):c.16862C>T (p.Thr5621Ile)
NM_001164508.2(NEB):c.16881T>C (p.Ala5627=) rs2153808196
NM_001164508.2(NEB):c.16893T>G (p.Ala5631=)
NM_001164508.2(NEB):c.168A>C (p.Ala56=)
NM_001164508.2(NEB):c.168A>G (p.Ala56=) rs200297299
NM_001164508.2(NEB):c.16901T>C (p.Ile5634Thr)
NM_001164508.2(NEB):c.16908+15dup
NM_001164508.2(NEB):c.16908+16del
NM_001164508.2(NEB):c.16908+17C>G
NM_001164508.2(NEB):c.16908+3_16908+6del
NM_001164508.2(NEB):c.16909-16T>C
NM_001164508.2(NEB):c.16909-1G>A rs2153806528
NM_001164508.2(NEB):c.16909-6C>A
NM_001164508.2(NEB):c.16909-6C>T rs2153806550
NM_001164508.2(NEB):c.16911A>T (p.Pro5637=)
NM_001164508.2(NEB):c.16917C>T (p.Tyr5639=)
NM_001164508.2(NEB):c.16920A>G (p.Arg5640=) rs2153806479
NM_001164508.2(NEB):c.16923G>A (p.Glu5641=) rs764012894
NM_001164508.2(NEB):c.16926T>C (p.Val5642=) rs2153806452
NM_001164508.2(NEB):c.16932C>A (p.Asp5644Glu)
NM_001164508.2(NEB):c.16934A>G (p.Lys5645Arg) rs2096805812
NM_001164508.2(NEB):c.16949T>C (p.Ile5650Thr) rs202009284
NM_001164508.2(NEB):c.1694G>A (p.Trp565Ter)
NM_001164508.2(NEB):c.16954A>T (p.Ile5652Leu) rs767425744
NM_001164508.2(NEB):c.16957A>T (p.Met5653Leu)
NM_001164508.2(NEB):c.16962A>G (p.Pro5654=)
NM_001164508.2(NEB):c.16966A>T (p.Thr5656Ser)
NM_001164508.2(NEB):c.16968T>C (p.Thr5656=)
NM_001164508.2(NEB):c.16968T>G (p.Thr5656=) rs2153806332
NM_001164508.2(NEB):c.1696G>A (p.Glu566Lys)
NM_001164508.2(NEB):c.16991C>A (p.Ala5664Glu)
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr) rs2153806253
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met) rs1360278350
NM_001164508.2(NEB):c.17010C>T (p.Ser5670=) rs1578230471
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser) rs1390168520
NM_001164508.2(NEB):c.17013+10A>C rs2153806149
NM_001164508.2(NEB):c.17013+19T>C
NM_001164508.2(NEB):c.17013+20C>G
NM_001164508.2(NEB):c.17014-11C>A
NM_001164508.2(NEB):c.17014-16T>G
NM_001164508.2(NEB):c.17014-20C>T
NM_001164508.2(NEB):c.17018T>G (p.Leu5673Arg) rs2096589517
NM_001164508.2(NEB):c.17019_17020del (p.Tyr5674fs)
NM_001164508.2(NEB):c.1701G>A (p.Lys567=)
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly) rs547231033
NM_001164508.2(NEB):c.17031C>T (p.Gly5677=) rs143684640
NM_001164508.2(NEB):c.17036A>T (p.Asp5679Val)
NM_001164508.2(NEB):c.17038G>A (p.Glu5680Lys)
NM_001164508.2(NEB):c.17046G>A (p.Lys5682=)
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
NM_001164508.2(NEB):c.17049G>A (p.Ala5683=) rs140688592
NM_001164508.2(NEB):c.17054G>C (p.Cys5685Ser)
NM_001164508.2(NEB):c.17055T>C (p.Cys5685=) rs2153764831
NM_001164508.2(NEB):c.17063G>A (p.Arg5688Gln)
NM_001164508.2(NEB):c.17063G>T (p.Arg5688Leu)
NM_001164508.2(NEB):c.17067G>A (p.Leu5689=)
NM_001164508.2(NEB):c.17067G>T (p.Leu5689=) rs772503328
NM_001164508.2(NEB):c.17069A>G (p.Asp5690Gly)
NM_001164508.2(NEB):c.17078C>T (p.Pro5693Leu) rs2096588016
NM_001164508.2(NEB):c.17079C>G (p.Pro5693=) rs1348731684
NM_001164508.2(NEB):c.17079C>T (p.Pro5693=) rs1348731684
NM_001164508.2(NEB):c.17082C>A (p.Ile5694=) rs770579997
NM_001164508.2(NEB):c.17091C>A (p.Ala5697=) rs2153764198
NM_001164508.2(NEB):c.17091_17094dup (p.Ala5699fs)
NM_001164508.2(NEB):c.17101dup (p.Arg5701fs)
NM_001164508.2(NEB):c.17103G>A (p.Arg5701=) rs1414276838
NM_001164508.2(NEB):c.17106G>A (p.Glu5702=)
NM_001164508.2(NEB):c.17118+11T>A
NM_001164508.2(NEB):c.17118+15T>A
NM_001164508.2(NEB):c.17118+15_17118+16del
NM_001164508.2(NEB):c.17118+16T>C
NM_001164508.2(NEB):c.17118+8G>C
NM_001164508.2(NEB):c.17118C>A (p.Asp5706Glu) rs769476760
NM_001164508.2(NEB):c.17119-15T>C
NM_001164508.2(NEB):c.17119-21_17119-5del rs2153759284
NM_001164508.2(NEB):c.17119-4C>G rs1161116603
NM_001164508.2(NEB):c.17119-6C>T rs2096581571
NM_001164508.2(NEB):c.17119-7T>C
NM_001164508.2(NEB):c.17119-8A>T rs1171189923
NM_001164508.2(NEB):c.17119-9C>T rs2153759606
NM_001164508.2(NEB):c.17135A>G (p.Asp5712Gly)
NM_001164508.2(NEB):c.17139T>C (p.His5713=) rs1287758552
NM_001164508.2(NEB):c.17154A>G (p.Gly5718=)
NM_001164508.2(NEB):c.17155C>A (p.His5719Asn)
NM_001164508.2(NEB):c.17157C>T (p.His5719=)
NM_001164508.2(NEB):c.17163G>A (p.Val5721=)
NM_001164508.2(NEB):c.17166C>T (p.Gly5722=)
NM_001164508.2(NEB):c.17168C>T (p.Thr5723Ile)
NM_001164508.2(NEB):c.17169C>T (p.Thr5723=)
NM_001164508.2(NEB):c.17173A>C (p.Thr5725Pro) rs2096580140
NM_001164508.2(NEB):c.17174C>T (p.Thr5725Ile)
NM_001164508.2(NEB):c.17180G>C (p.Arg5727Thr) rs533494950
NM_001164508.2(NEB):c.17183A>G (p.Asp5728Gly) rs756098317
NM_001164508.2(NEB):c.17188A>G (p.Asn5730Asp)
NM_001164508.2(NEB):c.17189A>G (p.Asn5730Ser)
NM_001164508.2(NEB):c.17190C>T (p.Asn5730=)
NM_001164508.2(NEB):c.17196_17200del (p.Ile5732fs) rs1578011278
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His) rs371681892
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu) rs371681892
NM_001164508.2(NEB):c.17199C>T (p.Arg5733=) rs2153756702
NM_001164508.2(NEB):c.17223C>T (p.Leu5741=)
NM_001164508.2(NEB):c.17224C>T (p.Gln5742Ter) rs2153755942
NM_001164508.2(NEB):c.17228A>G (p.Asn5743Ser) rs1022255644
NM_001164508.2(NEB):c.17233C>A (p.Arg5745=)
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter) rs1427371913
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln) rs773556106
NM_001164508.2(NEB):c.17242del (p.Arg5748fs)
NM_001164508.2(NEB):c.1724T>C (p.Ile575Thr)
NM_001164508.2(NEB):c.17250C>T (p.Asp5750=)
NM_001164508.2(NEB):c.17251T>G (p.Trp5751Gly) rs2096578090
NM_001164508.2(NEB):c.17256C>T (p.Ala5752=) rs2153754860
NM_001164508.2(NEB):c.17258A>G (p.Lys5753Arg) rs2153754800
NM_001164508.2(NEB):c.17265G>A (p.Lys5755=) rs2153754655
NM_001164508.2(NEB):c.17271G>A (p.Lys5757=)
NM_001164508.2(NEB):c.17276A>G (p.Gln5759Arg)
NM_001164508.2(NEB):c.17277G>C (p.Gln5759His)
NM_001164508.2(NEB):c.17281C>G (p.Pro5761Ala) rs2153753928
NM_001164508.2(NEB):c.17289C>T (p.Asp5763=)
NM_001164508.2(NEB):c.1728A>G (p.Lys576=) rs2149262618
NM_001164508.2(NEB):c.17297C>T (p.Ser5766Phe) rs745836611
NM_001164508.2(NEB):c.17298C>T (p.Ser5766=)
NM_001164508.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001164508.2(NEB):c.17302C>T (p.Leu5768=)
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
NM_001164508.2(NEB):c.17325T>C (p.Ala5775=) rs375534633
NM_001164508.2(NEB):c.17328G>C (p.Leu5776=)
NM_001164508.2(NEB):c.17328G>T (p.Leu5776=)
NM_001164508.2(NEB):c.1732del (p.Asp578fs)
NM_001164508.2(NEB):c.17333G>A (p.Ser5778Asn) rs2153752911
NM_001164508.2(NEB):c.17334T>C (p.Ser5778=) rs372247757
NM_001164508.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001164508.2(NEB):c.17341G>T (p.Asp5781Tyr)
NM_001164508.2(NEB):c.17348G>A (p.Arg5783His)
NM_001164508.2(NEB):c.17349C>G (p.Arg5783=) rs2153752810
NM_001164508.2(NEB):c.17355C>A (p.Tyr5785Ter)
NM_001164508.2(NEB):c.17355C>T (p.Tyr5785=) rs1578007148
NM_001164508.2(NEB):c.17356C>T (p.Leu5786=) rs1578007071
NM_001164508.2(NEB):c.17358G>A (p.Leu5786=)
NM_001164508.2(NEB):c.17367G>C (p.Trp5789Cys)
NM_001164508.2(NEB):c.17373C>A (p.Cys5791Ter) rs2153752710
NM_001164508.2(NEB):c.17373C>T (p.Cys5791=)
NM_001164508.2(NEB):c.17377C>T (p.Pro5793Ser)
NM_001164508.2(NEB):c.17394G>A (p.Val5798=) rs1578005646
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr) rs1262861131
NM_001164508.2(NEB):c.17400G>A (p.Gln5800=)
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del) rs1553787578
NM_001164508.2(NEB):c.17408A>C (p.Lys5803Thr)
NM_001164508.2(NEB):c.17415C>A (p.Tyr5805Ter) rs555516831
NM_001164508.2(NEB):c.1741C>T (p.Pro581Ser)
NM_001164508.2(NEB):c.17421G>A (p.Leu5807=) rs2153752381
NM_001164508.2(NEB):c.17423_17427del (p.Gln5808fs)
NM_001164508.2(NEB):c.17430+10C>A
NM_001164508.2(NEB):c.17430+12G>A
NM_001164508.2(NEB):c.17430+14A>G
NM_001164508.2(NEB):c.17430+17T>C
NM_001164508.2(NEB):c.17430+19G>A
NM_001164508.2(NEB):c.17430+20G>T
NM_001164508.2(NEB):c.17430+7G>A rs1578003936
NM_001164508.2(NEB):c.17430+7G>C rs1578003936
NM_001164508.2(NEB):c.17430+8_17430+9del rs764902371
NM_001164508.2(NEB):c.17430+9G>A rs780361098
NM_001164508.2(NEB):c.17430dup (p.Asn5811Ter)
NM_001164508.2(NEB):c.17431-10G>A rs2153749738
NM_001164508.2(NEB):c.17431-16G>A
NM_001164508.2(NEB):c.17431-19T>C
NM_001164508.2(NEB):c.17431-2A>T
NM_001164508.2(NEB):c.17431-5C>T rs1330992333
NM_001164508.2(NEB):c.17433T>C (p.Asn5811=) rs371499917
NM_001164508.2(NEB):c.17439C>T (p.Tyr5813=) rs2096546636
NM_001164508.2(NEB):c.17452G>C (p.Glu5818Gln) rs1193153766
NM_001164508.2(NEB):c.17463T>C (p.Arg5821=) rs2153749667
NM_001164508.2(NEB):c.17463T>G (p.Arg5821=)
NM_001164508.2(NEB):c.17468T>C (p.Ile5823Thr) rs768866431
NM_001164508.2(NEB):c.17469T>C (p.Ile5823=) rs2153749642
NM_001164508.2(NEB):c.17472G>A (p.Gly5824=)
NM_001164508.2(NEB):c.17479C>T (p.Pro5827Ser) rs1560050173
NM_001164508.2(NEB):c.17481A>G (p.Pro5827=)
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met) rs772168965
NM_001164508.2(NEB):c.17491G>T (p.Val5831Leu)
NM_001164508.2(NEB):c.17493G>A (p.Val5831=) rs1577971928
NM_001164508.2(NEB):c.17498T>C (p.Val5833Ala)
NM_001164508.2(NEB):c.17499C>G (p.Val5833=) rs2096545394
NM_001164508.2(NEB):c.174A>G (p.Ala58=) rs762014753
NM_001164508.2(NEB):c.17501A>G (p.Asn5834Ser)
NM_001164508.2(NEB):c.17503C>G (p.His5835Asp)
NM_001164508.2(NEB):c.17505T>C (p.His5835=) rs2153749540
NM_001164508.2(NEB):c.17508C>T (p.Ala5836=)
NM_001164508.2(NEB):c.1750G>T (p.Ala584Ser)
NM_001164508.2(NEB):c.17517C>G (p.Ala5839=) rs369433731
NM_001164508.2(NEB):c.17517C>T (p.Ala5839=) rs369433731
NM_001164508.2(NEB):c.17523C>T (p.Asp5841=)
NM_001164508.2(NEB):c.17529C>T (p.Phe5843=) rs2153749478
NM_001164508.2(NEB):c.17535+12T>C
NM_001164508.2(NEB):c.17535+15T>C
NM_001164508.2(NEB):c.17535+18C>G
NM_001164508.2(NEB):c.17535+19del
NM_001164508.2(NEB):c.17535+1G>T rs2153749469
NM_001164508.2(NEB):c.17535+20T>A
NM_001164508.2(NEB):c.17535+3A>G rs1553784210
NM_001164508.2(NEB):c.17536-11C>A
NM_001164508.2(NEB):c.17536-13T>C
NM_001164508.2(NEB):c.17536-15C>G
NM_001164508.2(NEB):c.17536-18A>C
NM_001164508.2(NEB):c.17536-18A>G
NM_001164508.2(NEB):c.17536-20A>C
NM_001164508.2(NEB):c.17536-3T>C
NM_001164508.2(NEB):c.17536-4A>T rs2153746785
NM_001164508.2(NEB):c.17536-5C>T rs2096521366
NM_001164508.2(NEB):c.17536-5del rs2153746809
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs) rs886043631
NM_001164508.2(NEB):c.17543A>G (p.Tyr5848Cys) rs1577949283
NM_001164508.2(NEB):c.17544T>C (p.Tyr5848=) rs2153746737
NM_001164508.2(NEB):c.17546G>T (p.Arg5849Leu)
NM_001164508.2(NEB):c.17547C>T (p.Arg5849=)
NM_001164508.2(NEB):c.1754C>T (p.Ala585Val) rs2099581852
NM_001164508.2(NEB):c.17550A>G (p.Thr5850=)
NM_001164508.2(NEB):c.17565C>G (p.Leu5855=) rs1000805419
NM_001164508.2(NEB):c.1756A>G (p.Lys586Glu) rs1576598655
NM_001164508.2(NEB):c.17577T>C (p.Pro5859=) rs369400827
NM_001164508.2(NEB):c.17586_17587del (p.Asp5862fs)
NM_001164508.2(NEB):c.17592T>C (p.Val5864=) rs758198271
NM_001164508.2(NEB):c.17595T>C (p.Asp5865=) rs2153746565
NM_001164508.2(NEB):c.17598T>C (p.Tyr5866=)
NM_001164508.2(NEB):c.175C>G (p.Gln59Glu) rs867732907
NM_001164508.2(NEB):c.175C>T (p.Gln59Ter) rs867732907
NM_001164508.2(NEB):c.17601G>C (p.Val5867=) rs58263509
NM_001164508.2(NEB):c.17608A>C (p.Lys5870Gln)
NM_001164508.2(NEB):c.17613A>G (p.Gln5871=)
NM_001164508.2(NEB):c.17619C>G (p.Gly5873=)
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=) rs767518298
NM_001164508.2(NEB):c.17620G>A (p.Glu5874Lys)
NM_001164508.2(NEB):c.17625C>T (p.Ile5875=) rs2153746479
NM_001164508.2(NEB):c.17627T>C (p.Leu5876Pro) rs1181510782
NM_001164508.2(NEB):c.17628C>G (p.Leu5876=) rs377183242
NM_001164508.2(NEB):c.17629G>T (p.Asp5877Tyr)
NM_001164508.2(NEB):c.17634+12G>T
NM_001164508.2(NEB):c.17634+18T>A
NM_001164508.2(NEB):c.17634+18T>C
NM_001164508.2(NEB):c.17634+20A>G
NM_001164508.2(NEB):c.17634+8T>G rs2153746370
NM_001164508.2(NEB):c.17634+9A>G
NM_001164508.2(NEB):c.17635-10_17635-9insG rs2153745514
NM_001164508.2(NEB):c.17635-11_17635-10insG
NM_001164508.2(NEB):c.17635-16A>G
NM_001164508.2(NEB):c.17635-16A>T
NM_001164508.2(NEB):c.17635-16_17635-14del rs2153745540
NM_001164508.2(NEB):c.17635-17C>G
NM_001164508.2(NEB):c.17635-17C>T rs750285243
NM_001164508.2(NEB):c.17635-19C>T rs1241667184
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.17635-4_17635-3dup rs3214503
NM_001164508.2(NEB):c.17637T>C (p.Ile5879=) rs757071372
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser) rs2099581808
NM_001164508.2(NEB):c.17643C>T (p.Tyr5881=)
NM_001164508.2(NEB):c.17644C>G (p.Arg5882Gly)
NM_001164508.2(NEB):c.17647A>C (p.Lys5883Gln)
NM_001164508.2(NEB):c.17648A>G (p.Lys5883Arg)
NM_001164508.2(NEB):c.17653_17654del (p.Trp5885fs) rs2096504394
NM_001164508.2(NEB):c.17654G>A (p.Trp5885Ter) rs1340834766
NM_001164508.2(NEB):c.17658T>C (p.Asn5886=) rs763191027
NM_001164508.2(NEB):c.17659G>A (p.Ala5887Thr)
NM_001164508.2(NEB):c.17661C>T (p.Ala5887=) rs2153745272
NM_001164508.2(NEB):c.17664C>T (p.Thr5888=)
NM_001164508.2(NEB):c.17667A>G (p.Lys5889=)
NM_001164508.2(NEB):c.17670A>G (p.Ser5890=)
NM_001164508.2(NEB):c.17672A>C (p.Lys5891Thr)
NM_001164508.2(NEB):c.17676C>T (p.Tyr5892=)
NM_001164508.2(NEB):c.17678C>A (p.Thr5893Asn)
NM_001164508.2(NEB):c.17681T>A (p.Leu5894His) rs201072996
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001164508.2(NEB):c.17681T>G (p.Leu5894Arg)
NM_001164508.2(NEB):c.17682C>T (p.Leu5894=)
NM_001164508.2(NEB):c.17690C>A (p.Thr5897Asn)
NM_001164508.2(NEB):c.17690C>G (p.Thr5897Ser)
NM_001164508.2(NEB):c.17691C>A (p.Thr5897=) rs933128761
NM_001164508.2(NEB):c.17691C>T (p.Thr5897=)
NM_001164508.2(NEB):c.17692C>T (p.Pro5898Ser)
NM_001164508.2(NEB):c.17694C>G (p.Pro5898=)
NM_001164508.2(NEB):c.17695C>T (p.Leu5899=) rs2153745150
NM_001164508.2(NEB):c.17695dup (p.Leu5899fs) rs2096502530
NM_001164508.2(NEB):c.17697G>C (p.Leu5899=) rs2153745139
NM_001164508.2(NEB):c.17705C>T (p.Thr5902Ile)
NM_001164508.2(NEB):c.17708C>T (p.Ala5903Val) rs2153745118
NM_001164508.2(NEB):c.17715G>A (p.Glu5905=)
NM_001164508.2(NEB):c.17724G>A (p.Arg5908=) rs777619904
NM_001164508.2(NEB):c.17724G>C (p.Arg5908Ser)
NM_001164508.2(NEB):c.17733C>G (p.Asp5911Glu)
NM_001164508.2(NEB):c.17734del (p.Gln5912fs) rs2096501278
NM_001164508.2(NEB):c.17736+11C>T
NM_001164508.2(NEB):c.17736+18A>T
NM_001164508.2(NEB):c.17736+1G>A
NM_001164508.2(NEB):c.17736+8T>C
NM_001164508.2(NEB):c.17737-14G>A
NM_001164508.2(NEB):c.17737-16T>C
NM_001164508.2(NEB):c.17737-17G>T
NM_001164508.2(NEB):c.17737-20A>G
NM_001164508.2(NEB):c.17737-9G>A
NM_001164508.2(NEB):c.17738A>G (p.Tyr5913Cys) rs2096492304
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
NM_001164508.2(NEB):c.1776C>T (p.Thr592=) rs2149261347
NM_001164508.2(NEB):c.17777G>A (p.Gly5926Asp)
NM_001164508.2(NEB):c.17778T>C (p.Gly5926=) rs2153744137
NM_001164508.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer) rs2096491549
NM_001164508.2(NEB):c.17782A>T (p.Ile5928Phe)
NM_001164508.2(NEB):c.17784T>C (p.Ile5928=) rs969871854
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
NM_001164508.2(NEB):c.1778G>A (p.Ser593Asn) rs2099581746
NM_001164508.2(NEB):c.17796T>C (p.Asp5932=) rs1315946832
NM_001164508.2(NEB):c.17799T>C (p.Ala5933=) rs2153744048
NM_001164508.2(NEB):c.177G>C (p.Gln59His) rs200990309
NM_001164508.2(NEB):c.1780G>A (p.Asp594Asn)
NM_001164508.2(NEB):c.1781A>T (p.Asp594Val)
NM_001164508.2(NEB):c.1782+10G>A rs2149260644
NM_001164508.2(NEB):c.1782+11C>A
NM_001164508.2(NEB):c.1782+1del rs1390897355
NM_001164508.2(NEB):c.1782+4_1782+5del rs398124168
NM_001164508.2(NEB):c.1782+5G>A
NM_001164508.2(NEB):c.17820T>C (p.His5940=)
NM_001164508.2(NEB):c.17823C>T (p.His5941=) rs1308314299
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.1783-12A>T
NM_001164508.2(NEB):c.1783-18T>C
NM_001164508.2(NEB):c.1783-18TG[4]
NM_001164508.2(NEB):c.1783-4G>T rs761557611
NM_001164508.2(NEB):c.1783-5T>C rs2149258165
NM_001164508.2(NEB):c.1783-8C>T rs2149258245
NM_001164508.2(NEB):c.1783-9T>A
NM_001164508.2(NEB):c.17833G>A (p.Val5945Ile)
NM_001164508.2(NEB):c.17840G>A (p.Ser5947Asn)
NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)
NM_001164508.2(NEB):c.17844+11C>T
NM_001164508.2(NEB):c.17844+9T>C
NM_001164508.2(NEB):c.17845-11C>A
NM_001164508.2(NEB):c.17845-11C>T
NM_001164508.2(NEB):c.17845-13C>G
NM_001164508.2(NEB):c.17845-19A>G
NM_001164508.2(NEB):c.17845-1G>A rs1371849916
NM_001164508.2(NEB):c.17845-1G>C rs1371849916
NM_001164508.2(NEB):c.17845-2A>T rs1177405905
NM_001164508.2(NEB):c.17845-3C>G rs2153740439
NM_001164508.2(NEB):c.17845-7T>C rs2153740522
NM_001164508.2(NEB):c.17845-9T>C rs2096455235
NM_001164508.2(NEB):c.17847G>A (p.Leu5949=)
NM_001164508.2(NEB):c.17848A>G (p.Lys5950Glu)
NM_001164508.2(NEB):c.17853C>T (p.Tyr5951=) rs2153740390
NM_001164508.2(NEB):c.17856del (p.Ala5953fs)
NM_001164508.2(NEB):c.17859T>C (p.Ala5953=) rs762300305
NM_001164508.2(NEB):c.1785G>C (p.Val595=) rs2149257978
NM_001164508.2(NEB):c.17862A>G (p.Glu5954=) rs565162006
NM_001164508.2(NEB):c.17865T>C (p.His5955=) rs1394078245
NM_001164508.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
NM_001164508.2(NEB):c.17872C>A (p.Gln5958Lys)
NM_001164508.2(NEB):c.17877A>G (p.Lys5959=)
NM_001164508.2(NEB):c.17883T>C (p.His5961=) rs2153740122
NM_001164508.2(NEB):c.17889T>A (p.Val5963=) rs2153740073
NM_001164508.2(NEB):c.17895C>T (p.Val5965=)
NM_001164508.2(NEB):c.17896C>G (p.Pro5966Ala) rs2096453351
NM_001164508.2(NEB):c.17898G>T (p.Pro5966=) rs376655029
NM_001164508.2(NEB):c.17903T>A (p.Met5968Lys)
NM_001164508.2(NEB):c.17913T>C (p.Asp5971=) rs1167894918
NM_001164508.2(NEB):c.17914C>T (p.Pro5972Ser)
NM_001164508.2(NEB):c.17915C>A (p.Pro5972His) rs4327235
NM_001164508.2(NEB):c.17915C>T (p.Pro5972Leu) rs4327235
NM_001164508.2(NEB):c.17920C>T (p.Leu5974=) rs1577892687
NM_001164508.2(NEB):c.17925T>G (p.Val5975=)
NM_001164508.2(NEB):c.17928G>A (p.Trp5976Ter)
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=) rs886054938
NM_001164508.2(NEB):c.17939C>A (p.Ala5980Glu) rs143582290
NM_001164508.2(NEB):c.17942G>T (p.Gly5981Val)
NM_001164508.2(NEB):c.17943C>T (p.Gly5981=)
NM_001164508.2(NEB):c.17944C>T (p.Gln5982Ter)
NM_001164508.2(NEB):c.17948T>G (p.Ile5983Ser)
NM_001164508.2(NEB):c.17953_18472-56del
NM_001164508.2(NEB):c.17958G>A (p.Glu5986=) rs1453137566
NM_001164508.2(NEB):c.17959A>C (p.Arg5987=) rs2153739559
NM_001164508.2(NEB):c.17964A>G (p.Leu5988=)
NM_001164508.2(NEB):c.17965T>A (p.Tyr5989Asn) rs752113075
NM_001164508.2(NEB):c.17967C>T (p.Tyr5989=) rs2153739503
NM_001164508.2(NEB):c.17976C>T (p.Asp5992=) rs2153739463
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp) rs764985237
NM_001164508.2(NEB):c.17986del (p.Thr5996fs) rs1577890764
NM_001164508.2(NEB):c.17988A>G (p.Thr5996=)
NM_001164508.2(NEB):c.17989A>T (p.Lys5997Ter) rs2153739384
NM_001164508.2(NEB):c.17999T>A (p.Ile6000Asn)
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg) rs2096449520
NM_001164508.2(NEB):c.18009T>G (p.Pro6003=) rs2153739253
NM_001164508.2(NEB):c.1800C>A (p.Asp600Glu)
NM_001164508.2(NEB):c.18015T>C (p.Asp6005=) rs2153739190
NM_001164508.2(NEB):c.18017T>C (p.Met6006Thr)
NM_001164508.2(NEB):c.18021G>A (p.Val6007=)
NM_001164508.2(NEB):c.18024A>C (p.Ser6008=)
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) rs748358450
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001164508.2(NEB):c.18033C>A (p.Ala6011=)
NM_001164508.2(NEB):c.18036C>T (p.Ala6012=)
NM_001164508.2(NEB):c.18037A>C (p.Lys6013Gln) rs2096448727
NM_001164508.2(NEB):c.18040C>T (p.Gln6014Ter) rs2153739049
NM_001164508.2(NEB):c.18045G>A (p.Gly6015=) rs777744742
NM_001164508.2(NEB):c.18048G>A (p.Gln6016=) rs1014679160
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18070T>G (p.Tyr6024Asp)
NM_001164508.2(NEB):c.18080A>G (p.Tyr6027Cys)
NM_001164508.2(NEB):c.18081_18089del (p.Tyr6027_Gln6030delinsTer)
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile) rs764679933
NM_001164508.2(NEB):c.1809A>G (p.Lys603=) rs2099580703
NM_001164508.2(NEB):c.18102T>C (p.His6034=) rs2153738695
NM_001164508.2(NEB):c.18106G>C (p.Asp6036His)
NM_001164508.2(NEB):c.18110A>G (p.Gln6037Arg)
NM_001164508.2(NEB):c.18114C>T (p.Asn6038=) rs753494666
NM_001164508.2(NEB):c.18117T>C (p.Asp6039=) rs2153738575
NM_001164508.2(NEB):c.1811del (p.Asn604fs)
NM_001164508.2(NEB):c.18122T>C (p.Ile6041Thr) rs2096445948
NM_001164508.2(NEB):c.18124C>T (p.Gln6042Ter) rs1577886635
NM_001164508.2(NEB):c.18127G>A (p.Ala6043Thr) rs1553775860
NM_001164508.2(NEB):c.1812C>A (p.Asn604Lys) rs772151546
NM_001164508.2(NEB):c.18136G>C (p.Ala6046Pro) rs2096445433
NM_001164508.2(NEB):c.18141T>C (p.Tyr6047=) rs1157586879
NM_001164508.2(NEB):c.18146_18156+7del
NM_001164508.2(NEB):c.18147A>G (p.Leu6049=) rs1326703300
NM_001164508.2(NEB):c.18149A>C (p.Gln6050Pro)
NM_001164508.2(NEB):c.18149A>G (p.Gln6050Arg)
NM_001164508.2(NEB):c.18152G>A (p.Ser6051Asn) rs1577885822
NM_001164508.2(NEB):c.18153T>C (p.Ser6051=) rs1381905125
NM_001164508.2(NEB):c.18156+14G>A
NM_001164508.2(NEB):c.18156+15T>A
NM_001164508.2(NEB):c.18156+20T>A
NM_001164508.2(NEB):c.18156+8A>G rs2153738250
NM_001164508.2(NEB):c.18157-19T>C
NM_001164508.2(NEB):c.18157-20A>C
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.18157-7C>T
NM_001164508.2(NEB):c.18160G>A (p.Val6054Ile) rs975134897
NM_001164508.2(NEB):c.18161T>C (p.Val6054Ala) rs1362288800
NM_001164508.2(NEB):c.18162C>T (p.Val6054=)
NM_001164508.2(NEB):c.18165C>A (p.Tyr6055Ter)
NM_001164508.2(NEB):c.18183G>A (p.Trp6061Ter)
NM_001164508.2(NEB):c.18187C>T (p.Arg6063Ter)
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
NM_001164508.2(NEB):c.18194T>C (p.Ile6065Thr)
NM_001164508.2(NEB):c.18195T>C (p.Ile6065=) rs2153730840
NM_001164508.2(NEB):c.18198C>A (p.Gly6066=) rs2153730829
NM_001164508.2(NEB):c.18210G>T (p.Leu6070=)
NM_001164508.2(NEB):c.18211del (p.Asp6071fs) rs997878946
NM_001164508.2(NEB):c.18221A>T (p.Asp6074Val)
NM_001164508.2(NEB):c.18222C>T (p.Asp6074=)
NM_001164508.2(NEB):c.18224A>G (p.His6075Arg)
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
NM_001164508.2(NEB):c.18246G>A (p.Gln6082=)
NM_001164508.2(NEB):c.18249A>G (p.Glu6083=) rs2153730681
NM_001164508.2(NEB):c.1824G>A (p.Met608Ile)
NM_001164508.2(NEB):c.18261+10G>A
NM_001164508.2(NEB):c.18261+12C>T
NM_001164508.2(NEB):c.18261+14A>G
NM_001164508.2(NEB):c.18261+19C>T
NM_001164508.2(NEB):c.18261+19_18261+21del rs1319324645
NM_001164508.2(NEB):c.18261+1G>A
NM_001164508.2(NEB):c.18261+1G>T rs112544116
NM_001164508.2(NEB):c.18261+4C>G rs757739475
NM_001164508.2(NEB):c.18261+4C>T
NM_001164508.2(NEB):c.18261+5G>A rs375167899
NM_001164508.2(NEB):c.18261+8A>C
NM_001164508.2(NEB):c.18261+8A>G rs1577815538
NM_001164508.2(NEB):c.18262-12G>A
NM_001164508.2(NEB):c.18262-13C>G
NM_001164508.2(NEB):c.18262-15T>C
NM_001164508.2(NEB):c.18262-18G>A
NM_001164508.2(NEB):c.18262-3C>T
NM_001164508.2(NEB):c.18262-6T>C rs1209057790
NM_001164508.2(NEB):c.18262-7T>C
NM_001164508.2(NEB):c.18267A>G (p.Lys6089=)
NM_001164508.2(NEB):c.18270T>A (p.Tyr6090Ter) rs2153729960
NM_001164508.2(NEB):c.18280G>T (p.Ala6094Ser)
NM_001164508.2(NEB):c.18285T>A (p.Leu6095=) rs769252447
NM_001164508.2(NEB):c.18297T>C (p.Pro6099=)
NM_001164508.2(NEB):c.18297T>G (p.Pro6099=)
NM_001164508.2(NEB):c.182C>G (p.Ala61Gly) rs2099795617
NM_001164508.2(NEB):c.18300C>T (p.Asn6100=)
NM_001164508.2(NEB):c.18302T>C (p.Phe6101Ser) rs2153729845
NM_001164508.2(NEB):c.18308G>T (p.Ser6103Ile)
NM_001164508.2(NEB):c.1830A>G (p.Gly610=) rs2099580567
NM_001164508.2(NEB):c.18310G>C (p.Val6104Leu) rs1253544291
NM_001164508.2(NEB):c.18310G>T (p.Val6104Leu)
NM_001164508.2(NEB):c.18314T>C (p.Val6105Ala) rs2096324310
NM_001164508.2(NEB):c.18321T>C (p.Pro6107=)
NM_001164508.2(NEB):c.18324A>G (p.Pro6108=)
NM_001164508.2(NEB):c.18324A>T (p.Pro6108=)
NM_001164508.2(NEB):c.18327G>T (p.Glu6109Asp) rs2096323303
NM_001164508.2(NEB):c.18339C>T (p.Ala6113=) rs910166443
NM_001164508.2(NEB):c.18354C>A (p.Val6118=)
NM_001164508.2(NEB):c.18356A>G (p.Asn6119Ser)
NM_001164508.2(NEB):c.18358C>T (p.Gln6120Ter)
NM_001164508.2(NEB):c.18363T>C (p.Ser6121=)
NM_001164508.2(NEB):c.18366+11T>C
NM_001164508.2(NEB):c.18366+13T>A
NM_001164508.2(NEB):c.18366+16G>A
NM_001164508.2(NEB):c.18366+18A>G
NM_001164508.2(NEB):c.18366+20G>A
NM_001164508.2(NEB):c.18366+2T>C rs2153729614
NM_001164508.2(NEB):c.18366+9G>C
NM_001164508.2(NEB):c.18367-14T>C
NM_001164508.2(NEB):c.18367-15G>T
NM_001164508.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001164508.2(NEB):c.18367-1_18370del rs1553770146
NM_001164508.2(NEB):c.18367-6C>T
NM_001164508.2(NEB):c.1836C>T (p.Leu612=)
NM_001164508.2(NEB):c.18374A>G (p.Tyr6125Cys) rs2096294914
NM_001164508.2(NEB):c.18378A>G (p.Lys6126=)
NM_001164508.2(NEB):c.18402C>A (p.Gly6134=)
NM_001164508.2(NEB):c.18406T>C (p.Tyr6136His)
NM_001164508.2(NEB):c.18407A>G (p.Tyr6136Cys)
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=) rs757188494
NM_001164508.2(NEB):c.18414T>C (p.Phe6138=)
NM_001164508.2(NEB):c.18415dup (p.Ser6139fs)
NM_001164508.2(NEB):c.18416C>T (p.Ser6139Leu) rs2153726853
NM_001164508.2(NEB):c.18417A>G (p.Ser6139=) rs2153726842
NM_001164508.2(NEB):c.18422A>T (p.Asp6141Val)
NM_001164508.2(NEB):c.18423T>A (p.Asp6141Glu)
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys) rs377179553
NM_001164508.2(NEB):c.18431A>T (p.His6144Leu) rs34504204
NM_001164508.2(NEB):c.18432T>C (p.His6144=)
NM_001164508.2(NEB):c.18435C>T (p.Ile6145=) rs2153726712
NM_001164508.2(NEB):c.18436T>C (p.Ser6146Pro) rs1231291915
NM_001164508.2(NEB):c.18444C>T (p.Ser6148=) rs1324616356
NM_001164508.2(NEB):c.18465C>T (p.Tyr6155=)
NM_001164508.2(NEB):c.18471+10C>T
NM_001164508.2(NEB):c.18471+13T>A
NM_001164508.2(NEB):c.18471+17G>A
NM_001164508.2(NEB):c.18471+1G>C rs1553769576
NM_001164508.2(NEB):c.18471+9del rs2153726541
NM_001164508.2(NEB):c.18472-11del
NM_001164508.2(NEB):c.18472-15A>G
NM_001164508.2(NEB):c.18472-17G>A rs2096241034
NM_001164508.2(NEB):c.18472-19A>G
NM_001164508.2(NEB):c.18472-4C>T
NM_001164508.2(NEB):c.18472-5T>C
NM_001164508.2(NEB):c.18475C>T (p.Leu6159=)
NM_001164508.2(NEB):c.18477G>A (p.Leu6159=) rs1401069525
NM_001164508.2(NEB):c.18477G>C (p.Leu6159=) rs1401069525
NM_001164508.2(NEB):c.18489G>C (p.Ala6163=) rs371669095
NM_001164508.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001164508.2(NEB):c.1849G>A (p.Asp617Asn)
NM_001164508.2(NEB):c.18501C>T (p.Thr6167=) rs2153721450
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18507C>G (p.Ala6169=)
NM_001164508.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del) rs1553767010
NM_001164508.2(NEB):c.18515A>G (p.Tyr6172Cys)
NM_001164508.2(NEB):c.18517A>C (p.Thr6173Pro)
NM_001164508.2(NEB):c.18520C>T (p.Leu6174=) rs2153721363
NM_001164508.2(NEB):c.18523G>A (p.Asp6175Asn)
NM_001164508.2(NEB):c.18529C>T (p.Arg6177Cys)
NM_001164508.2(NEB):c.18538C>T (p.Pro6180Ser)
NM_001164508.2(NEB):c.18541A>T (p.Ile6181Phe)
NM_001164508.2(NEB):c.1854C>A (p.Pro618=)
NM_001164508.2(NEB):c.1854C>G (p.Pro618=) rs1469092630
NM_001164508.2(NEB):c.18552C>A (p.Ala6184=)
NM_001164508.2(NEB):c.18552C>T (p.Ala6184=)
NM_001164508.2(NEB):c.18559G>A (p.Ala6187Thr) rs994460843
NM_001164508.2(NEB):c.18565C>T (p.Leu6189=)
NM_001164508.2(NEB):c.18572A>G (p.Asn6191Ser) rs2096236392
NM_001164508.2(NEB):c.18575G>C (p.Ser6192Thr)
NM_001164508.2(NEB):c.18579+11C>T rs567282220
NM_001164508.2(NEB):c.18579+15T>C rs2096234308
NM_001164508.2(NEB):c.18579+8T>G rs2153721033
NM_001164508.2(NEB):c.18579+9G>A rs780126337
NM_001164508.2(NEB):c.18579+9G>C rs780126337
NM_001164508.2(NEB):c.18580-10C>G
NM_001164508.2(NEB):c.18580-19T>C
NM_001164508.2(NEB):c.18580-20del
NM_001164508.2(NEB):c.18580-8_18608del
NM_001164508.2(NEB):c.18591A>G (p.Lys6197=) rs2153719995
NM_001164508.2(NEB):c.18594G>A (p.Glu6198=) rs1052632945
NM_001164508.2(NEB):c.18594del (p.Thr6199fs)
NM_001164508.2(NEB):c.18596C>T (p.Thr6199Ile) rs1331648772
NM_001164508.2(NEB):c.18597A>G (p.Thr6199=)
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001164508.2(NEB):c.18599A>G (p.Tyr6200Cys)
NM_001164508.2(NEB):c.18600T>C (p.Tyr6200=) rs1577711346
NM_001164508.2(NEB):c.18603G>C (p.Glu6201Asp)
NM_001164508.2(NEB):c.18606G>A (p.Lys6202=) rs2153719853
NM_001164508.2(NEB):c.18609G>A (p.Gln6203=)
NM_001164508.2(NEB):c.1861C>T (p.Leu621=)
NM_001164508.2(NEB):c.18621C>T (p.Tyr6207=)
NM_001164508.2(NEB):c.18624G>A (p.Leu6208=) rs1234623857
NM_001164508.2(NEB):c.18624G>T (p.Leu6208=) rs1234623857
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly) rs753261774
NM_001164508.2(NEB):c.18662A>C (p.His6221Pro)
NM_001164508.2(NEB):c.18665G>A (p.Cys6222Tyr)
NM_001164508.2(NEB):c.1866C>T (p.His622=)
NM_001164508.2(NEB):c.18683T>A (p.Met6228Lys)
NM_001164508.2(NEB):c.18687G>A (p.Arg6229=) rs2153719286
NM_001164508.2(NEB):c.18691G>A (p.Ala6231Thr)
NM_001164508.2(NEB):c.18692C>A (p.Ala6231Glu)
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001164508.2(NEB):c.18693+12del
NM_001164508.2(NEB):c.18693+5G>C rs377482159
NM_001164508.2(NEB):c.18694-19T>C
NM_001164508.2(NEB):c.18694-1G>A rs2153712182
NM_001164508.2(NEB):c.18694-2del rs1553763404
NM_001164508.2(NEB):c.18694-5A>G
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.18694-9del rs753417927
NM_001164508.2(NEB):c.18694-9dup rs753417927
NM_001164508.2(NEB):c.18699C>T (p.Asn6233=)
NM_001164508.2(NEB):c.1869C>A (p.Ser623=)
NM_001164508.2(NEB):c.1869C>T (p.Ser623=)
NM_001164508.2(NEB):c.18701A>G (p.Tyr6234Cys)
NM_001164508.2(NEB):c.18702C>T (p.Tyr6234=) rs757855431
NM_001164508.2(NEB):c.18703_18704insT (p.Arg6235fs)
NM_001164508.2(NEB):c.18714T>G (p.Tyr6238Ter) rs2153712099
NM_001164508.2(NEB):c.18723C>T (p.Thr6241=) rs2153712061
NM_001164508.2(NEB):c.18724A>G (p.Lys6242Glu) rs886054937
NM_001164508.2(NEB):c.18724A>T (p.Lys6242Ter)
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
NM_001164508.2(NEB):c.18741C>A (p.Ile6247=) rs1577665038
NM_001164508.2(NEB):c.18748G>A (p.Asp6250Asn)
NM_001164508.2(NEB):c.1874A>C (p.Lys625Thr)
NM_001164508.2(NEB):c.18751A>G (p.Met6251Val)
NM_001164508.2(NEB):c.18763G>T (p.Val6255Leu) rs781706876
NM_001164508.2(NEB):c.18769del (p.Ala6257fs)
NM_001164508.2(NEB):c.18774_18775del (p.Arg6259fs)
NM_001164508.2(NEB):c.18781C>T (p.Gln6261Ter)
NM_001164508.2(NEB):c.18787A>G (p.Ile6263Val)
NM_001164508.2(NEB):c.18795_18796del (p.Ser6265fs)
NM_001164508.2(NEB):c.18799C>T (p.Leu6267=)
NM_001164508.2(NEB):c.18804G>A (p.Glu6268=) rs1577663381
NM_001164508.2(NEB):c.18804G>C (p.Glu6268Asp)
NM_001164508.2(NEB):c.18807T>C (p.Tyr6269=)
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001164508.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001164508.2(NEB):c.18809del (p.Arg6270fs)
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His) rs921387109
NM_001164508.2(NEB):c.1881C>G (p.Ala627=) rs2149255363
NM_001164508.2(NEB):c.18823C>A (p.Gln6275Lys)
NM_001164508.2(NEB):c.18823C>G (p.Gln6275Glu)
NM_001164508.2(NEB):c.18828G>A (p.Trp6276Ter) rs2153711477
NM_001164508.2(NEB):c.18839_18841delinsA (p.Leu6280fs)
NM_001164508.2(NEB):c.1883A>C (p.Lys628Thr) rs1176664285
NM_001164508.2(NEB):c.1883A>G (p.Lys628Arg) rs1176664285
NM_001164508.2(NEB):c.18842A>G (p.Glu6281Gly) rs768965998
NM_001164508.2(NEB):c.18847C>T (p.Pro6283Ser)
NM_001164508.2(NEB):c.18849C>T (p.Pro6283=)
NM_001164508.2(NEB):c.18852T>C (p.Asn6284=) rs1362922636
NM_001164508.2(NEB):c.18857T>C (p.Ile6286Thr)
NM_001164508.2(NEB):c.18858A>G (p.Ile6286Met)
NM_001164508.2(NEB):c.18862G>T (p.Val6288Phe)
NM_001164508.2(NEB):c.18870C>A (p.Asn6290Lys) rs200122580
NM_001164508.2(NEB):c.18871G>A (p.Ala6291Thr)
NM_001164508.2(NEB):c.18872C>T (p.Ala6291Val)
NM_001164508.2(NEB):c.18873C>T (p.Ala6291=)
NM_001164508.2(NEB):c.18876G>A (p.Gln6292=)
NM_001164508.2(NEB):c.18881T>C (p.Ile6294Thr)
NM_001164508.2(NEB):c.18891+14T>C
NM_001164508.2(NEB):c.18891+18C>T
NM_001164508.2(NEB):c.18891+8G>A
NM_001164508.2(NEB):c.18891+9T>A rs2153711124
NM_001164508.2(NEB):c.18892-13C>G
NM_001164508.2(NEB):c.18892-15CT[2]
NM_001164508.2(NEB):c.18892-18G>T
NM_001164508.2(NEB):c.18892-4G>A rs2153709102
NM_001164508.2(NEB):c.18892-8T>A
NM_001164508.2(NEB):c.18892-8T>C
NM_001164508.2(NEB):c.18893A>G (p.Asn6298Ser) rs781054657
NM_001164508.2(NEB):c.18893A>T (p.Asn6298Ile)
NM_001164508.2(NEB):c.18894T>C (p.Asn6298=) rs754749448
NM_001164508.2(NEB):c.18897G>A (p.Val6299=) rs568599013
NM_001164508.2(NEB):c.18900T>A (p.Tyr6300Ter)
NM_001164508.2(NEB):c.18900T>C (p.Tyr6300=) rs1393913548
NM_001164508.2(NEB):c.18908A>C (p.Asp6303Ala)
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
NM_001164508.2(NEB):c.18910C>T (p.Leu6304=)
NM_001164508.2(NEB):c.18915T>C (p.Asn6305=) rs1436289680
NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter) rs1559952676
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001164508.2(NEB):c.18923A>G (p.Lys6308Arg)
NM_001164508.2(NEB):c.18937del (p.Tyr6313fs)
NM_001164508.2(NEB):c.1893T>C (p.Ser631=)
NM_001164508.2(NEB):c.18940G>A (p.Val6314Ile) rs764044045
NM_001164508.2(NEB):c.18945G>A (p.Trp6315Ter)
NM_001164508.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001164508.2(NEB):c.18955C>A (p.Gln6319Lys)
NM_001164508.2(NEB):c.18955C>T (p.Gln6319Ter)
NM_001164508.2(NEB):c.1896+14T>C
NM_001164508.2(NEB):c.1896+15A>G
NM_001164508.2(NEB):c.1896+4_1896+5del
NM_001164508.2(NEB):c.1896+7T>A rs1553600682
NM_001164508.2(NEB):c.1896+9C>G
NM_001164508.2(NEB):c.18962T>A (p.Leu6321His)
NM_001164508.2(NEB):c.18963C>T (p.Leu6321=) rs1577636859
NM_001164508.2(NEB):c.18966T>C (p.His6322=) rs2153708805
NM_001164508.2(NEB):c.1897-10C>A rs2149174348
NM_001164508.2(NEB):c.1897-1G>A rs1553593177
NM_001164508.2(NEB):c.1897-20_1897-16del
NM_001164508.2(NEB):c.18972G>A (p.Lys6324=) rs2153708778
NM_001164508.2(NEB):c.18978A>T (p.Ser6326=)
NM_001164508.2(NEB):c.18981C>A (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.18982G>A (p.Asp6328Asn)
NM_001164508.2(NEB):c.18996+10C>T rs772798498
NM_001164508.2(NEB):c.18996+19A>G rs2153708574
NM_001164508.2(NEB):c.18996+2T>C rs1577636079
NM_001164508.2(NEB):c.18996+7C>T rs2153708653
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001164508.2(NEB):c.18997-10T>G rs4544436
NM_001164508.2(NEB):c.18997-13T>C
NM_001164508.2(NEB):c.18997-16T>C
NM_001164508.2(NEB):c.18997-16_18997-15del
NM_001164508.2(NEB):c.18997-7T>C rs2153703521
NM_001164508.2(NEB):c.1899A>G (p.Arg633=)
NM_001164508.2(NEB):c.19000C>T (p.Gln6334Ter)
NM_001164508.2(NEB):c.19001A>T (p.Gln6334Leu)
NM_001164508.2(NEB):c.19008A>G (p.Thr6336=)
NM_001164508.2(NEB):c.1900T>C (p.Leu634=) rs1576526817
NM_001164508.2(NEB):c.19016G>A (p.Gly6339Asp)
NM_001164508.2(NEB):c.19030C>A (p.Gln6344Lys)
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001164508.2(NEB):c.19032A>G (p.Gln6344=) rs1456812374
NM_001164508.2(NEB):c.19036_19057del (p.Tyr6346fs)
NM_001164508.2(NEB):c.19041T>C (p.Asn6347=) rs2153703352
NM_001164508.2(NEB):c.19047C>G (p.Val6349=)
NM_001164508.2(NEB):c.19050A>C (p.Thr6350=) rs2096024287
NM_001164508.2(NEB):c.19055C>G (p.Thr6352Arg)
NM_001164508.2(NEB):c.19055C>T (p.Thr6352Met)
NM_001164508.2(NEB):c.19056G>A (p.Thr6352=) rs115631125
NM_001164508.2(NEB):c.19057C>T (p.Pro6353Ser)
NM_001164508.2(NEB):c.1905C>G (p.Tyr635Ter)
NM_001164508.2(NEB):c.19064A>G (p.Tyr6355Cys) rs968608271
NM_001164508.2(NEB):c.19065T>C (p.Tyr6355=) rs2153703224
NM_001164508.2(NEB):c.19068G>A (p.Val6356=) rs2096022831
NM_001164508.2(NEB):c.19075G>C (p.Val6359Leu)
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter) rs2153703181
NM_001164508.2(NEB):c.19078_19079del (p.Gln6360fs)
NM_001164508.2(NEB):c.19086C>A (p.Gly6362=) rs914386216
NM_001164508.2(NEB):c.19086C>T (p.Gly6362=)
NM_001164508.2(NEB):c.19092T>A (p.Asn6364Lys) rs2096022022
NM_001164508.2(NEB):c.19097G>A (p.Ser6366Asn) rs191579691
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001164508.2(NEB):c.19101+13G>A
NM_001164508.2(NEB):c.19101+18C>T rs988730874
NM_001164508.2(NEB):c.19101+1G>A
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.19102-12G>T
NM_001164508.2(NEB):c.19102-15G>A
NM_001164508.2(NEB):c.19102-15G>T
NM_001164508.2(NEB):c.19102-16T>G
NM_001164508.2(NEB):c.19102-31_19102-30del rs774225336
NM_001164508.2(NEB):c.19102-9T>C rs1357577227
NM_001164508.2(NEB):c.19102G>A (p.Val6368Ile)
NM_001164508.2(NEB):c.19104A>C (p.Val6368=) rs1577576100
NM_001164508.2(NEB):c.19106_19107del (p.Lys6369fs)
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001164508.2(NEB):c.19131T>A (p.Ile6377=)
NM_001164508.2(NEB):c.19131T>C (p.Ile6377=)
NM_001164508.2(NEB):c.19132A>G (p.Lys6378Glu)
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001164508.2(NEB):c.19142A>G (p.Tyr6381Cys)
NM_001164508.2(NEB):c.19143C>T (p.Tyr6381=) rs2153702327
NM_001164508.2(NEB):c.19144A>G (p.Thr6382Ala)
NM_001164508.2(NEB):c.19149A>T (p.Thr6383=)
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.19162G>A (p.Val6388Met) rs2096008692
NM_001164508.2(NEB):c.19168del (p.Tyr6390fs)
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001164508.2(NEB):c.19170T>C (p.Tyr6390=) rs1377275105
NM_001164508.2(NEB):c.19179C>G (p.Thr6393=)
NM_001164508.2(NEB):c.19188G>A (p.Leu6396=) rs2153702177
NM_001164508.2(NEB):c.19191G>A (p.Lys6397=) rs2153702171
NM_001164508.2(NEB):c.19194T>C (p.Asn6398=) rs2153702166
NM_001164508.2(NEB):c.19197T>C (p.Leu6399=)
NM_001164508.2(NEB):c.19198T>C (p.Tyr6400His)
NM_001164508.2(NEB):c.19206+10G>A
NM_001164508.2(NEB):c.19206+14T>A
NM_001164508.2(NEB):c.19206+14T>C
NM_001164508.2(NEB):c.19206+16T>C
NM_001164508.2(NEB):c.19206+17T>A
NM_001164508.2(NEB):c.19206+17T>C
NM_001164508.2(NEB):c.19206+18T>C rs771605004
NM_001164508.2(NEB):c.19206+18T>G rs771605004
NM_001164508.2(NEB):c.19206+18del rs761735803
NM_001164508.2(NEB):c.19206+18dup
NM_001164508.2(NEB):c.19206+19C>T
NM_001164508.2(NEB):c.19206+7T>A
NM_001164508.2(NEB):c.19207-16T>A
NM_001164508.2(NEB):c.19207-17G>A
NM_001164508.2(NEB):c.19207-17G>T
NM_001164508.2(NEB):c.19207-1G>A rs1553755829
NM_001164508.2(NEB):c.19207-20_19207-18del rs768751352
NM_001164508.2(NEB):c.19207-6C>A rs1467246404
NM_001164508.2(NEB):c.19207-7C>T
NM_001164508.2(NEB):c.19209C>T (p.Asn6403=)
NM_001164508.2(NEB):c.1920_1921delinsTT (p.Glu640_Lys641delinsAspTer)
NM_001164508.2(NEB):c.19210C>G (p.Leu6404Val)
NM_001164508.2(NEB):c.19211T>C (p.Leu6404Pro)
NM_001164508.2(NEB):c.19212G>A (p.Leu6404=) rs1214330371
NM_001164508.2(NEB):c.19214dup (p.Tyr6405Ter)
NM_001164508.2(NEB):c.19215C>T (p.Tyr6405=) rs767017098
NM_001164508.2(NEB):c.19223C>T (p.Ala6408Val)
NM_001164508.2(NEB):c.19224C>T (p.Ala6408=)
NM_001164508.2(NEB):c.19232G>C (p.Arg6411Thr)
NM_001164508.2(NEB):c.19234G>T (p.Val6412Leu) rs2095980616
NM_001164508.2(NEB):c.19245C>G (p.Thr6415=) rs967486464
NM_001164508.2(NEB):c.1924A>G (p.Thr642Ala)
NM_001164508.2(NEB):c.19251C>T (p.Tyr6417=)
NM_001164508.2(NEB):c.19254C>T (p.Ile6418=) rs2095979199
NM_001164508.2(NEB):c.1925C>A (p.Thr642Lys)
NM_001164508.2(NEB):c.19275C>T (p.Ser6425=) rs746083931
NM_001164508.2(NEB):c.19283_19284del (p.His6428fs)
NM_001164508.2(NEB):c.19284C>G (p.His6428Gln) rs201005449
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001164508.2(NEB):c.19286C>T (p.Ala6429Val)
NM_001164508.2(NEB):c.19293C>T (p.Asn6431=) rs2153700140
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter) rs2153700128
NM_001164508.2(NEB):c.1929G>A (p.Lys643=)
NM_001164508.2(NEB):c.19301A>C (p.His6434Pro) rs1577553776
NM_001164508.2(NEB):c.19307_19308del (p.Ala6436fs)
NM_001164508.2(NEB):c.19314+14A>G
NM_001164508.2(NEB):c.19314+17C>T
NM_001164508.2(NEB):c.19314+18A>G
NM_001164508.2(NEB):c.19314+20G>A
NM_001164508.2(NEB):c.19314+20G>T
NM_001164508.2(NEB):c.19314+7A>T rs2153700039
NM_001164508.2(NEB):c.19315-3T>C rs756491764
NM_001164508.2(NEB):c.19315-6C>T
NM_001164508.2(NEB):c.19315-8C>G
NM_001164508.2(NEB):c.19317C>A (p.Ile6439=)
NM_001164508.2(NEB):c.1932A>G (p.Ala644=) rs1220980810
NM_001164508.2(NEB):c.19335T>C (p.Tyr6445=) rs1412742054
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly) rs2153666324
NM_001164508.2(NEB):c.1933_1934del (p.Lys645fs) rs2149172715
NM_001164508.2(NEB):c.1934A>G (p.Lys645Arg)
NM_001164508.2(NEB):c.19350T>C (p.Ala6450=) rs1351602890
NM_001164508.2(NEB):c.19356T>A (p.Tyr6452Ter)
NM_001164508.2(NEB):c.19356T>C (p.Tyr6452=) rs761666021
NM_001164508.2(NEB):c.19357A>G (p.Thr6453Ala) rs968182845
NM_001164508.2(NEB):c.19359G>A (p.Thr6453=) rs1382610541
NM_001164508.2(NEB):c.1935G>A (p.Lys645=) rs2149172557
NM_001164508.2(NEB):c.19360T>C (p.Leu6454=)
NM_001164508.2(NEB):c.19362A>G (p.Leu6454=) rs2153666184
NM_001164508.2(NEB):c.19371T>C (p.Ser6457=)
NM_001164508.2(NEB):c.19371T>G (p.Ser6457Arg)
NM_001164508.2(NEB):c.19374delinsAC (p.Asp6459fs)
NM_001164508.2(NEB):c.19382_19383delinsTG (p.Asp6461Val)
NM_001164508.2(NEB):c.19384_19387del (p.Pro6462fs)
NM_001164508.2(NEB):c.19392A>G (p.Thr6464=)
NM_001164508.2(NEB):c.19396C>T (p.Arg6466Trp)
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
NM_001164508.2(NEB):c.19398G>A (p.Arg6466=) rs867834427
NM_001164508.2(NEB):c.19400G>C (p.Cys6467Ser) rs1577306997
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro) rs556624010
NM_001164508.2(NEB):c.19410T>G (p.Val6470=)
NM_001164508.2(NEB):c.19422C>T (p.Asn6474=)
NM_001164508.2(NEB):c.19428+11T>G
NM_001164508.2(NEB):c.19428+12C>T
NM_001164508.2(NEB):c.19428+14T>A
NM_001164508.2(NEB):c.19428+14T>C
NM_001164508.2(NEB):c.19428+16C>A
NM_001164508.2(NEB):c.19428+16C>T rs1022784479
NM_001164508.2(NEB):c.19428+17G>A
NM_001164508.2(NEB):c.19428+19C>T
NM_001164508.2(NEB):c.19428+8C>A rs773614835
NM_001164508.2(NEB):c.19428+8C>T rs773614835
NM_001164508.2(NEB):c.19428T>C (p.Asp6476=) rs1390912272
NM_001164508.2(NEB):c.1948T>C (p.Cys650Arg)
NM_001164508.2(NEB):c.1949G>A (p.Cys650Tyr)
NM_001164508.2(NEB):c.1952A>T (p.Glu651Val) rs1553592436
NM_001164508.2(NEB):c.1956C>T (p.Thr652=)
NM_001164508.2(NEB):c.195G>C (p.Pro65=) rs79524813
NM_001164508.2(NEB):c.19647C>T (p.Leu6549=) rs2153657724
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter) rs2153657682
NM_001164508.2(NEB):c.1965T>C (p.Tyr655=) rs1576524196
NM_001164508.2(NEB):c.19671C>T (p.Cys6557=)
NM_001164508.2(NEB):c.19686T>G (p.Thr6562=) rs886054934
NM_001164508.2(NEB):c.19687C>A (p.Pro6563Thr)
NM_001164508.2(NEB):c.19698C>G (p.Leu6566=) rs776472016
NM_001164508.2(NEB):c.19698C>T (p.Leu6566=)
NM_001164508.2(NEB):c.19700A>G (p.His6567Arg)
NM_001164508.2(NEB):c.19704C>G (p.Ala6568=) rs760335435
NM_001164508.2(NEB):c.19711_19714del (p.Ala6571fs) rs1577244250
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001164508.2(NEB):c.19713T>C (p.Ala6571=)
NM_001164508.2(NEB):c.19715A>G (p.Tyr6572Cys)
NM_001164508.2(NEB):c.19724G>T (p.Arg6575Leu) rs185999504
NM_001164508.2(NEB):c.19728T>A (p.Asp6576Glu)
NM_001164508.2(NEB):c.19729G>A (p.Asp6577Asn) rs2095448833
NM_001164508.2(NEB):c.19731+10C>T rs766652014
NM_001164508.2(NEB):c.19731+15T>A
NM_001164508.2(NEB):c.19731T>C (p.Asp6577=)
NM_001164508.2(NEB):c.19732-15T>C
NM_001164508.2(NEB):c.19732-15del
NM_001164508.2(NEB):c.19732-5G>C rs779841022
NM_001164508.2(NEB):c.19736A>G (p.Lys6579Arg)
NM_001164508.2(NEB):c.19739A>G (p.Tyr6580Cys) rs2095414762
NM_001164508.2(NEB):c.19740T>C (p.Tyr6580=)
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr) rs190605644
NM_001164508.2(NEB):c.19751_19752delinsGA (p.Met6584Arg) rs2153654002
NM_001164508.2(NEB):c.19756A>G (p.Lys6586Glu) rs2153653983
NM_001164508.2(NEB):c.19763G>A (p.Arg6588Lys)
NM_001164508.2(NEB):c.19773C>T (p.Tyr6591=)
NM_001164508.2(NEB):c.19776G>A (p.Lys6592=)
NM_001164508.2(NEB):c.19779T>C (p.Leu6593=)
NM_001164508.2(NEB):c.19782C>T (p.Val6594=) rs1475066401
NM_001164508.2(NEB):c.19785A>T (p.Thr6595=) rs1248765978
NM_001164508.2(NEB):c.19794A>C (p.Pro6598=) rs2153653816
NM_001164508.2(NEB):c.19799A>T (p.Tyr6600Phe) rs2095412773
NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001164508.2(NEB):c.1980G>A (p.Gln660=) rs2149170729
NM_001164508.2(NEB):c.19812C>T (p.Val6604=) rs2095412277
NM_001164508.2(NEB):c.19813A>T (p.Lys6605Ter)
NM_001164508.2(NEB):c.19814A>G (p.Lys6605Arg) rs2095412206
NM_001164508.2(NEB):c.19821G>A (p.Gly6607=) rs2095412128
NM_001164508.2(NEB):c.19826A>T (p.Gln6609Leu) rs1553730155
NM_001164508.2(NEB):c.19836+17G>A
NM_001164508.2(NEB):c.19836+1G>T rs1446930968
NM_001164508.2(NEB):c.19836+1del
NM_001164508.2(NEB):c.19836+6T>C rs2153653644
NM_001164508.2(NEB):c.19836+7G>A
NM_001164508.2(NEB):c.19837-15T>C
NM_001164508.2(NEB):c.19837-19A>G
NM_001164508.2(NEB):c.19837-20A>C
NM_001164508.2(NEB):c.19837-6C>T
NM_001164508.2(NEB):c.19837-9C>T
NM_001164508.2(NEB):c.1983G>A (p.Leu661=) rs2099557939
NM_001164508.2(NEB):c.19840G>C (p.Val6614Leu)
NM_001164508.2(NEB):c.19842C>G (p.Val6614=) rs2153648091
NM_001164508.2(NEB):c.19843_19853del (p.Tyr6615fs)
NM_001164508.2(NEB):c.19848C>T (p.His6616=) rs910831381
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter) rs2095359371
NM_001164508.2(NEB):c.19857T>C (p.Tyr6619=) rs2153648002
NM_001164508.2(NEB):c.19866T>C (p.Ser6622=) rs766226656
NM_001164508.2(NEB):c.19868T>G (p.Val6623Gly)
NM_001164508.2(NEB):c.19869C>G (p.Val6623=)
NM_001164508.2(NEB):c.1986G>A (p.Lys662=)
NM_001164508.2(NEB):c.19879_19880insCCCCATGC (p.Val6627fs)
NM_001164508.2(NEB):c.19893C>G (p.Thr6631=) rs1477499693
NM_001164508.2(NEB):c.19897del (p.Thr6633fs) rs2153647734
NM_001164508.2(NEB):c.198G>A (p.Val66=)
NM_001164508.2(NEB):c.198G>C (p.Val66=) rs2150921386
NM_001164508.2(NEB):c.19900G>A (p.Val6634Met)
NM_001164508.2(NEB):c.19903G>T (p.Asp6635Tyr) rs534519331
NM_001164508.2(NEB):c.19904_19914del (p.Asp6635fs)
NM_001164508.2(NEB):c.19912C>A (p.Arg6638=)
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp) rs771483221
NM_001164508.2(NEB):c.19915G>A (p.Ala6639Thr) rs2095356884
NM_001164508.2(NEB):c.19915del (p.Ala6639fs) rs2153647595
NM_001164508.2(NEB):c.19916C>A (p.Ala6639Asp) rs2153647567
NM_001164508.2(NEB):c.19918C>T (p.Leu6640Phe) rs2095356788
NM_001164508.2(NEB):c.19919T>C (p.Leu6640Pro)
NM_001164508.2(NEB):c.19919T>G (p.Leu6640Arg) rs886054932
NM_001164508.2(NEB):c.19923T>C (p.His6641=)
NM_001164508.2(NEB):c.19923T>G (p.His6641Gln) rs773870323
NM_001164508.2(NEB):c.19925C>T (p.Ala6642Val)
NM_001164508.2(NEB):c.19926A>C (p.Ala6642=)
NM_001164508.2(NEB):c.19929C>G (p.Tyr6643Ter) rs1440532058
NM_001164508.2(NEB):c.19929C>T (p.Tyr6643=)
NM_001164508.2(NEB):c.19934T>G (p.Leu6645Arg)
NM_001164508.2(NEB):c.19935C>T (p.Leu6645=) rs2153647443
NM_001164508.2(NEB):c.19936C>T (p.Gln6646Ter)
NM_001164508.2(NEB):c.19938G>A (p.Gln6646=) rs748541129
NM_001164508.2(NEB):c.19943C>T (p.Ser6648Leu)
NM_001164508.2(NEB):c.19944+17T>A
NM_001164508.2(NEB):c.19944+18G>A
NM_001164508.2(NEB):c.19944+6_19944+12del rs2153647219
NM_001164508.2(NEB):c.19945-10A>G rs2153633331
NM_001164508.2(NEB):c.19945-10A>T
NM_001164508.2(NEB):c.19945-18T>C
NM_001164508.2(NEB):c.19945-2A>C rs113473971
NM_001164508.2(NEB):c.19945-3C>G rs1206840358
NM_001164508.2(NEB):c.19945-6C>T
NM_001164508.2(NEB):c.19945-9T>A
NM_001164508.2(NEB):c.1994G>T (p.Ser665Ile)
NM_001164508.2(NEB):c.19950A>C (p.Leu6650=) rs2153633228
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
NM_001164508.2(NEB):c.19962C>T (p.Ser6654=) rs2153633182
NM_001164508.2(NEB):c.19968C>T (p.Arg6656=)
NM_001164508.2(NEB):c.19971C>T (p.Thr6657=)
NM_001164508.2(NEB):c.19976C>G (p.Pro6659Arg) rs2153633083
NM_001164508.2(NEB):c.19977C>T (p.Pro6659=) rs2153633071
NM_001164508.2(NEB):c.1998+10G>C
NM_001164508.2(NEB):c.1998+14C>T
NM_001164508.2(NEB):c.1998+18T>C
NM_001164508.2(NEB):c.1998+7A>G rs2149169724
NM_001164508.2(NEB):c.19981G>C (p.Gly6661Arg)
NM_001164508.2(NEB):c.19981G>T (p.Gly6661Ter)
NM_001164508.2(NEB):c.19983A>C (p.Gly6661=)
NM_001164508.2(NEB):c.19983dup (p.Tyr6662fs)
NM_001164508.2(NEB):c.19986T>C (p.Tyr6662=)
NM_001164508.2(NEB):c.19988del (p.Arg6663fs)
NM_001164508.2(NEB):c.1999-17T>C
NM_001164508.2(NEB):c.20003C>G (p.Thr6668Ser) rs2153632972
NM_001164508.2(NEB):c.20004T>G (p.Thr6668=) rs2153632963
NM_001164508.2(NEB):c.20013C>T (p.Phe6671=) rs2095138509
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro) rs763237724
NM_001164508.2(NEB):c.2001T>G (p.Ala667=)
NM_001164508.2(NEB):c.20021_20023del (p.Ile6674del) rs1577105410
NM_001164508.2(NEB):c.20034T>C (p.Arg6678=)
NM_001164508.2(NEB):c.20037C>T (p.Tyr6679=)
NM_001164508.2(NEB):c.20038A>G (p.Met6680Val) rs1265237421
NM_001164508.2(NEB):c.20044A>G (p.Ser6682Gly)
NM_001164508.2(NEB):c.20046T>C (p.Ser6682=)
NM_001164508.2(NEB):c.20049+10C>G rs2153632695
NM_001164508.2(NEB):c.20049+12C>T
NM_001164508.2(NEB):c.20049+13C>T
NM_001164508.2(NEB):c.20049+15C>A
NM_001164508.2(NEB):c.20049+15C>T rs747465260
NM_001164508.2(NEB):c.20049+20T>C
NM_001164508.2(NEB):c.20049+2T>A
NM_001164508.2(NEB):c.20049+7G>A rs2153632752
NM_001164508.2(NEB):c.20049+9T>C rs2153632713
NM_001164508.2(NEB):c.2004A>G (p.Arg668=)
NM_001164508.2(NEB):c.20050-11T>C
NM_001164508.2(NEB):c.20050-20T>C
NM_001164508.2(NEB):c.20050-3C>T
NM_001164508.2(NEB):c.20050-5T>G
NM_001164508.2(NEB):c.20056T>C (p.Tyr6686His) rs2153624429
NM_001164508.2(NEB):c.20059A>T (p.Lys6687Ter)
NM_001164508.2(NEB):c.20079C>A (p.Thr6693=)
NM_001164508.2(NEB):c.20082G>A (p.Lys6694=)
NM_001164508.2(NEB):c.20083G>C (p.Ala6695Pro)
NM_001164508.2(NEB):c.20085A>G (p.Ala6695=)
NM_001164508.2(NEB):c.20087A>G (p.Tyr6696Cys)
NM_001164508.2(NEB):c.20088T>C (p.Tyr6696=) rs2153624203
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
NM_001164508.2(NEB):c.20106C>T (p.Pro6702=) rs1553717815
NM_001164508.2(NEB):c.20108A>G (p.Lys6703Arg)
NM_001164508.2(NEB):c.20118A>G (p.Pro6706=)
NM_001164508.2(NEB):c.2011G>C (p.Asp671His)
NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)
NM_001164508.2(NEB):c.20124C>T (p.Val6708=)
NM_001164508.2(NEB):c.20133G>C (p.Arg6711=)
NM_001164508.2(NEB):c.20137G>C (p.Val6713Leu)
NM_001164508.2(NEB):c.20139C>T (p.Val6713=)
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
NM_001164508.2(NEB):c.2013C>T (p.Asp671=)
NM_001164508.2(NEB):c.20145T>C (p.Asn6715=)
NM_001164508.2(NEB):c.20157+10T>A rs1577064555
NM_001164508.2(NEB):c.20157+1G>A
NM_001164508.2(NEB):c.20157+20C>T
NM_001164508.2(NEB):c.20157+2T>A rs1553717306
NM_001164508.2(NEB):c.20157+2T>C rs1553717306
NM_001164508.2(NEB):c.20157+7G>A
NM_001164508.2(NEB):c.20157+8A>C rs2153623453
NM_001164508.2(NEB):c.20158-18A>T
NM_001164508.2(NEB):c.20158-19_20158-17del
NM_001164508.2(NEB):c.20158-1G>C rs1553715579
NM_001164508.2(NEB):c.20158-4G>A rs568113302
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20163_20164del (p.Tyr6722fs)
NM_001164508.2(NEB):c.20165A>T (p.Tyr6722Phe) rs2153618365
NM_001164508.2(NEB):c.20166T>C (p.Tyr6722=)
NM_001164508.2(NEB):c.20167C>T (p.Arg6723Trp)
NM_001164508.2(NEB):c.20168G>A (p.Arg6723Gln)
NM_001164508.2(NEB):c.20169G>C (p.Arg6723=) rs959967237
NM_001164508.2(NEB):c.20175G>C (p.Leu6725Phe)
NM_001164508.2(NEB):c.2017T>C (p.Tyr673His)
NM_001164508.2(NEB):c.20191G>T (p.Asp6731Tyr)
NM_001164508.2(NEB):c.20193C>T (p.Asp6731=) rs2153618208
NM_001164508.2(NEB):c.20195A>G (p.Lys6732Arg)
NM_001164508.2(NEB):c.20199C>T (p.Ile6733=) rs1322022679
NM_001164508.2(NEB):c.20202T>C (p.His6734=)
NM_001164508.2(NEB):c.20205A>C (p.Thr6735=)
NM_001164508.2(NEB):c.20205A>G (p.Thr6735=) rs2153618102
NM_001164508.2(NEB):c.20208T>C (p.Thr6736=)
NM_001164508.2(NEB):c.20211C>G (p.Pro6737=) rs771038288
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
NM_001164508.2(NEB):c.20214T>C (p.Asp6738=) rs777778977
NM_001164508.2(NEB):c.20216C>T (p.Thr6739Ile)
NM_001164508.2(NEB):c.20217C>T (p.Thr6739=) rs2153617890
NM_001164508.2(NEB):c.20220T>A (p.Pro6740=)
NM_001164508.2(NEB):c.20220T>C (p.Pro6740=)
NM_001164508.2(NEB):c.20225_20226del (p.Ile6742fs) rs2153617810
NM_001164508.2(NEB):c.2022A>G (p.Val674=) rs2149165360
NM_001164508.2(NEB):c.20238G>A (p.Lys6746=) rs2153617736
NM_001164508.2(NEB):c.2023A>G (p.Lys675Glu) rs767593840
NM_001164508.2(NEB):c.20241G>T (p.Lys6747Asn) rs2153617719
NM_001164508.2(NEB):c.20244A>G (p.Thr6748=) rs2153617704
NM_001164508.2(NEB):c.2024A>C (p.Lys675Thr)
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.20255T>G (p.Val6752Gly)
NM_001164508.2(NEB):c.20256C>T (p.Val6752=)
NM_001164508.2(NEB):c.20262+14T>C
NM_001164508.2(NEB):c.20262+18A>G
NM_001164508.2(NEB):c.20262+2T>C
NM_001164508.2(NEB):c.20262+2T>G rs2153617573
NM_001164508.2(NEB):c.20262+8T>C
NM_001164508.2(NEB):c.20262+9T>C
NM_001164508.2(NEB):c.20263-12T>G
NM_001164508.2(NEB):c.20263-15T>C
NM_001164508.2(NEB):c.20263-16A>G
NM_001164508.2(NEB):c.20263-17T>A
NM_001164508.2(NEB):c.20263-7del rs763008896
NM_001164508.2(NEB):c.20263-7dup rs763008896
NM_001164508.2(NEB):c.20267T>C (p.Ile6756Thr)
NM_001164508.2(NEB):c.20269T>C (p.Tyr6757His)
NM_001164508.2(NEB):c.20280C>T (p.Asp6760=) rs761933895
NM_001164508.2(NEB):c.20281_20282dup (p.Phe6762fs) rs2094863263
NM_001164508.2(NEB):c.20286C>T (p.Phe6762=)
NM_001164508.2(NEB):c.20295G>A (p.Gln6765=)
NM_001164508.2(NEB):c.20298C>T (p.Gly6766=)
NM_001164508.2(NEB):c.20302A>G (p.Met6768Val) rs780579848
NM_001164508.2(NEB):c.20302A>T (p.Met6768Leu)
NM_001164508.2(NEB):c.20308T>C (p.Ser6770Pro)
NM_001164508.2(NEB):c.20311_20312del (p.Leu6771fs)
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001164508.2(NEB):c.20316A>G (p.Pro6772=) rs772552779
NM_001164508.2(NEB):c.20316A>T (p.Pro6772=) rs772552779
NM_001164508.2(NEB):c.20319C>T (p.Tyr6773=) rs2153615963
NM_001164508.2(NEB):c.20322A>T (p.Thr6774=)
NM_001164508.2(NEB):c.20323C>T (p.Pro6775Ser)
NM_001164508.2(NEB):c.20326del (p.Gln6776fs) rs2153615926
NM_001164508.2(NEB):c.20327A>G (p.Gln6776Arg) rs1377556613
NM_001164508.2(NEB):c.20341C>T (p.Arg6781Cys)
NM_001164508.2(NEB):c.20343C>T (p.Arg6781=) rs1455500980
NM_001164508.2(NEB):c.20349G>A (p.Val6783=)
NM_001164508.2(NEB):c.20349G>T (p.Val6783=)
NM_001164508.2(NEB):c.20351G>C (p.Gly6784Ala)
NM_001164508.2(NEB):c.20352A>G (p.Gly6784=) rs1166197657
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala) rs1028441065
NM_001164508.2(NEB):c.20360_20361insA (p.Ser6788fs) rs2153615795
NM_001164508.2(NEB):c.20364T>C (p.Ser6788=) rs2153615783
NM_001164508.2(NEB):c.20364_20365del (p.Ser6788fs)
NM_001164508.2(NEB):c.20365G>A (p.Asp6789Asn)
NM_001164508.2(NEB):c.20367+11C>T
NM_001164508.2(NEB):c.20367+12G>A
NM_001164508.2(NEB):c.20367+12G>T
NM_001164508.2(NEB):c.20367+13T>G
NM_001164508.2(NEB):c.20367+18G>A
NM_001164508.2(NEB):c.20367+19T>A
NM_001164508.2(NEB):c.20367+3A>G
NM_001164508.2(NEB):c.20367+7A>G rs1245262853
NM_001164508.2(NEB):c.20367+7A>T rs1245262853
NM_001164508.2(NEB):c.20368-17C>T
NM_001164508.2(NEB):c.20368-18T>G
NM_001164508.2(NEB):c.20368-19T>G
NM_001164508.2(NEB):c.20368-20T>A
NM_001164508.2(NEB):c.20368-7C>G rs2153608192
NM_001164508.2(NEB):c.20368-9G>A rs2094696492
NM_001164508.2(NEB):c.20369T>A (p.Ile6790Asn)
NM_001164508.2(NEB):c.2037A>C (p.Gly679=)
NM_001164508.2(NEB):c.20384A>G (p.Asp6795Gly)
NM_001164508.2(NEB):c.20385C>G (p.Asp6795Glu) rs2153608107
NM_001164508.2(NEB):c.20385C>T (p.Asp6795=) rs2153608107
NM_001164508.2(NEB):c.20386T>C (p.Leu6796=)
NM_001164508.2(NEB):c.2038C>A (p.His680Asn) rs773702715
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs) rs1553710982
NM_001164508.2(NEB):c.20394C>T (p.Val6798=)
NM_001164508.2(NEB):c.20395C>T (p.Leu6799=)
NM_001164508.2(NEB):c.20397G>T (p.Leu6799=) rs750316684
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter) rs1405498595
NM_001164508.2(NEB):c.20407G>A (p.Gly6803Ser)
NM_001164508.2(NEB):c.20417T>A (p.Leu6806Gln)
NM_001164508.2(NEB):c.20424C>T (p.Asp6808=)
NM_001164508.2(NEB):c.20425A>G (p.Thr6809Ala)
NM_001164508.2(NEB):c.20437G>T (p.Val6813Phe)
NM_001164508.2(NEB):c.20439C>G (p.Val6813=) rs2094691380
NM_001164508.2(NEB):c.20441_20442del (p.Arg6814fs)
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001164508.2(NEB):c.20446C>G (p.Arg6816Gly) rs780644697
NM_001164508.2(NEB):c.20446C>T (p.Arg6816Trp) rs780644697
NM_001164508.2(NEB):c.20446_20447del (p.Arg6816fs)
NM_001164508.2(NEB):c.20446dup (p.Arg6816fs) rs1559767662
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.20465G>C (p.Trp6822Ser) rs2153607705
NM_001164508.2(NEB):c.20466+12T>C
NM_001164508.2(NEB):c.20466+13C>T
NM_001164508.2(NEB):c.20466+2T>A
NM_001164508.2(NEB):c.20466+5G>C rs2094687409
NM_001164508.2(NEB):c.20466+8C>G rs757210732
NM_001164508.2(NEB):c.20466+9A>C
NM_001164508.2(NEB):c.20466+9A>G rs767636080
NM_001164508.2(NEB):c.20467-10_20467-9insTC
NM_001164508.2(NEB):c.20467-14T>G
NM_001164508.2(NEB):c.20467-14_20467-13insTG rs769300777
NM_001164508.2(NEB):c.20467-15T>G
NM_001164508.2(NEB):c.20467-15_20467-14insG
NM_001164508.2(NEB):c.20467-15_20467-14insTG
NM_001164508.2(NEB):c.20467-16_20467-15insG rs1553709365
NM_001164508.2(NEB):c.20467-16_20467-15insTG
NM_001164508.2(NEB):c.20467-17_20467-16insTG
NM_001164508.2(NEB):c.20467-18T>C
NM_001164508.2(NEB):c.20467-18T>G
NM_001164508.2(NEB):c.20467-18_20467-17insG
NM_001164508.2(NEB):c.20467-18_20467-17insTG
NM_001164508.2(NEB):c.20467-1G>T rs760082702
NM_001164508.2(NEB):c.20467-20_20467-19insG
NM_001164508.2(NEB):c.20467-2A>C rs1392500142
NM_001164508.2(NEB):c.20467-2dup rs765107380
NM_001164508.2(NEB):c.20467-3A>G rs1463738651
NM_001164508.2(NEB):c.20467-4_20467-3insTA rs1553708977
NM_001164508.2(NEB):c.20467-4dup rs10687343
NM_001164508.2(NEB):c.20467-6T>G
NM_001164508.2(NEB):c.20467-9_20467-8insC rs1208273105
NM_001164508.2(NEB):c.20469T>C (p.Ser6823=) rs2153604226
NM_001164508.2(NEB):c.2048G>A (p.Gly683Asp)
NM_001164508.2(NEB):c.2049C>A (p.Gly683=) rs372609682
NM_001164508.2(NEB):c.204G>A (p.Arg68=)
NM_001164508.2(NEB):c.20503C>A (p.Arg6835=) rs370098540
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001164508.2(NEB):c.20529C>T (p.Asp6843=)
NM_001164508.2(NEB):c.20532T>A (p.Thr6844=)
NM_001164508.2(NEB):c.20533C>A (p.Pro6845Thr)
NM_001164508.2(NEB):c.20536G>T (p.Glu6846Ter)
NM_001164508.2(NEB):c.20538A>G (p.Glu6846=) rs1576976368
NM_001164508.2(NEB):c.20550G>C (p.Val6850=) rs1454797066
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001164508.2(NEB):c.20568T>C (p.His6856=) rs780118739
NM_001164508.2(NEB):c.2056G>A (p.Glu686Lys)
NM_001164508.2(NEB):c.20571G>C (p.Leu6857=) rs2153603779
NM_001164508.2(NEB):c.20577+7A>G
NM_001164508.2(NEB):c.20577+8C>G rs762136090
NM_001164508.2(NEB):c.20578-13G>C
NM_001164508.2(NEB):c.20578-15T>C
NM_001164508.2(NEB):c.20578-18A>G
NM_001164508.2(NEB):c.20578-19T>C
NM_001164508.2(NEB):c.20578-20A>G rs2153575431
NM_001164508.2(NEB):c.20578-2A>G
NM_001164508.2(NEB):c.20578-4C>G rs1658782605
NM_001164508.2(NEB):c.20578-6G>A rs376710012
NM_001164508.2(NEB):c.20578-8del rs1304911332
NM_001164508.2(NEB):c.20583C>T (p.Val6861=) rs939258740
NM_001164508.2(NEB):c.20591C>T (p.Ala6864Val)
NM_001164508.2(NEB):c.20592T>C (p.Ala6864=) rs754233089
NM_001164508.2(NEB):c.20592T>G (p.Ala6864=)
NM_001164508.2(NEB):c.20606A>T (p.Gln6869Leu)
NM_001164508.2(NEB):c.2061C>T (p.Asp687=) rs2149163767
NM_001164508.2(NEB):c.20626G>A (p.Val6876Ile)
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala) rs750276279
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser) rs750276279
NM_001164508.2(NEB):c.20633del (p.Asp6878fs) rs2094062438
NM_001164508.2(NEB):c.20639C>A (p.Pro6880His)
NM_001164508.2(NEB):c.20644_20645dup (p.Leu6883fs) rs2153574857
NM_001164508.2(NEB):c.20650A>G (p.Arg6884Gly)
NM_001164508.2(NEB):c.20650_20651insCCTCT (p.Arg6884fs)
NM_001164508.2(NEB):c.20652A>G (p.Arg6884=)
NM_001164508.2(NEB):c.20653G>T (p.Ala6885Ser) rs1201503713
NM_001164508.2(NEB):c.20659C>A (p.Arg6887=) rs749452641
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs) rs1576517390
NM_001164508.2(NEB):c.20660G>A (p.Arg6887Gln)
NM_001164508.2(NEB):c.20670G>C (p.Lys6890Asn) rs768041857
NM_001164508.2(NEB):c.20674_20675del (p.Gln6892fs) rs2153574675
NM_001164508.2(NEB):c.2067T>A (p.Tyr689Ter)
NM_001164508.2(NEB):c.20682+12G>A
NM_001164508.2(NEB):c.20682+16C>T
NM_001164508.2(NEB):c.20682+1G>A rs1576819152
NM_001164508.2(NEB):c.20682+8C>T rs2153574573
NM_001164508.2(NEB):c.20682+9A>C rs1576818801
NM_001164508.2(NEB):c.20683-10T>C rs2153570157
NM_001164508.2(NEB):c.20683-12T>C
NM_001164508.2(NEB):c.20683-16T>G
NM_001164508.2(NEB):c.20683-17T>G
NM_001164508.2(NEB):c.20683-18C>T
NM_001164508.2(NEB):c.20683-4T>C rs2153570062
NM_001164508.2(NEB):c.20683-6A>G
NM_001164508.2(NEB):c.20683-6A>T
NM_001164508.2(NEB):c.20683-9ATT[3] rs2093936618
NM_001164508.2(NEB):c.20685T>A (p.Tyr6895Ter)
NM_001164508.2(NEB):c.20688G>C (p.Leu6896=) rs775161722
NM_001164508.2(NEB):c.20691T>A (p.Tyr6897Ter)
NM_001164508.2(NEB):c.20692G>A (p.Val6898Ile)
NM_001164508.2(NEB):c.20697A>G (p.Glu6899=) rs2153570012
NM_001164508.2(NEB):c.206G>A (p.Arg69Lys)
NM_001164508.2(NEB):c.2070C>T (p.His690=)
NM_001164508.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001164508.2(NEB):c.20718C>A (p.Pro6906=) rs1576796071
NM_001164508.2(NEB):c.20718C>T (p.Pro6906=)
NM_001164508.2(NEB):c.20719C>T (p.His6907Tyr)
NM_001164508.2(NEB):c.20719del (p.His6907fs)
NM_001164508.2(NEB):c.20721T>A (p.His6907Gln) rs2093933909
NM_001164508.2(NEB):c.20721TCA[1] (p.His6909del) rs1553696713
NM_001164508.2(NEB):c.20725C>T (p.His6909Tyr)
NM_001164508.2(NEB):c.20728G>T (p.Ala6910Ser)
NM_001164508.2(NEB):c.2073A>G (p.Thr691=)
NM_001164508.2(NEB):c.20742C>A (p.Thr6914=)
NM_001164508.2(NEB):c.20742C>G (p.Thr6914=)
NM_001164508.2(NEB):c.20752A>C (p.Lys6918Gln)
NM_001164508.2(NEB):c.20754G>A (p.Lys6918=) rs2153569748
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr) rs2093931355
NM_001164508.2(NEB):c.20757T>C (p.His6919=) rs2153569714
NM_001164508.2(NEB):c.2075_2076del (p.His692fs) rs2149163148
NM_001164508.2(NEB):c.20763A>G (p.Lys6921=) rs2093930988
NM_001164508.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn) rs1553696371
NM_001164508.2(NEB):c.20765A>T (p.Asp6922Val) rs2093930817
NM_001164508.2(NEB):c.20769G>A (p.Val6923=) rs938023399
NM_001164508.2(NEB):c.20769G>C (p.Val6923=)
NM_001164508.2(NEB):c.2076C>T (p.His692=)
NM_001164508.2(NEB):c.20776A>G (p.Met6926Val) rs1559707924
NM_001164508.2(NEB):c.20787+10G>A
NM_001164508.2(NEB):c.20787+17G>C
NM_001164508.2(NEB):c.20787+20C>A
NM_001164508.2(NEB):c.20788-17C>A
NM_001164508.2(NEB):c.20788-1G>A rs1553695557
NM_001164508.2(NEB):c.20788-20C>T
NM_001164508.2(NEB):c.20788-5C>T
NM_001164508.2(NEB):c.20791A>T (p.Lys6931Ter)
NM_001164508.2(NEB):c.20792dup (p.Tyr6932fs)
NM_001164508.2(NEB):c.20793G>A (p.Lys6931=)
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.20802T>C (p.Ile6934=)
NM_001164508.2(NEB):c.20805A>G (p.Gln6935=)
NM_001164508.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001164508.2(NEB):c.20808T>C (p.Tyr6936=) rs753417634
NM_001164508.2(NEB):c.2080A>C (p.Met694Leu)
NM_001164508.2(NEB):c.2080A>G (p.Met694Val)
NM_001164508.2(NEB):c.20811A>G (p.Glu6937=)
NM_001164508.2(NEB):c.20813del (p.Lys6938fs)
NM_001164508.2(NEB):c.20822A>G (p.Asp6941Gly)
NM_001164508.2(NEB):c.20827T>C (p.Tyr6943His)
NM_001164508.2(NEB):c.20832T>C (p.Thr6944=)
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001164508.2(NEB):c.20847G>C (p.Thr6949=) rs759425229
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val) rs1168345348
NM_001164508.2(NEB):c.20856C>T (p.Leu6952=) rs2153567193
NM_001164508.2(NEB):c.20861G>A (p.Arg6954Lys)
NM_001164508.2(NEB):c.20863G>A (p.Ala6955Thr) rs2153567154
NM_001164508.2(NEB):c.20875del (p.Tyr6959fs)
NM_001164508.2(NEB):c.2087T>C (p.Val696Ala)
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001164508.2(NEB):c.2088T>G (p.Val696=)
NM_001164508.2(NEB):c.20892+10C>A rs2153566996
NM_001164508.2(NEB):c.20892+10C>T rs2153566996
NM_001164508.2(NEB):c.20892+11C>T
NM_001164508.2(NEB):c.20892+12T>C
NM_001164508.2(NEB):c.20892+14C>T
NM_001164508.2(NEB):c.20892T>A (p.Asp6964Glu) rs1553694845
NM_001164508.2(NEB):c.20892T>G (p.Asp6964Glu) rs1553694845
NM_001164508.2(NEB):c.20893-10C>G
NM_001164508.2(NEB):c.20893-11dup rs766816927
NM_001164508.2(NEB):c.20893-17G>T
NM_001164508.2(NEB):c.20893-19G>A
NM_001164508.2(NEB):c.20893-20T>C
NM_001164508.2(NEB):c.20893-8_20893-7del
NM_001164508.2(NEB):c.20894T>A (p.Leu6965Gln) rs1239615497
NM_001164508.2(NEB):c.20900A>G (p.Tyr6967Cys)
NM_001164508.2(NEB):c.20901C>T (p.Tyr6967=) rs1311480674
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001164508.2(NEB):c.20916A>G (p.Gln6972=)
NM_001164508.2(NEB):c.20918del (p.Lys6973fs)
NM_001164508.2(NEB):c.20928G>T (p.Gly6976=)
NM_001164508.2(NEB):c.20931A>G (p.Lys6977=) rs2153554037
NM_001164508.2(NEB):c.20933A>G (p.Tyr6978Cys) rs761780939
NM_001164508.2(NEB):c.20934C>A (p.Tyr6978Ter) rs2153554020
NM_001164508.2(NEB):c.20940G>C (p.Thr6980=) rs369611234
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)
NM_001164508.2(NEB):c.20961T>C (p.Ile6987=) rs1553689592
NM_001164508.2(NEB):c.20964C>T (p.Val6988=)
NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr) rs1383294380
NM_001164508.2(NEB):c.20973C>T (p.Arg6991=) rs2153553754
NM_001164508.2(NEB):c.20974A>G (p.Lys6992Glu)
NM_001164508.2(NEB):c.20974A>T (p.Lys6992Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) rs1559680233
NM_001164508.2(NEB):c.20976del (p.Val6993fs) rs1559680233
NM_001164508.2(NEB):c.20978_20985delinsG (p.Val6993fs)
NM_001164508.2(NEB):c.20985T>C (p.Asp6995=)
NM_001164508.2(NEB):c.2098A>G (p.Asn700Asp)
NM_001164508.2(NEB):c.20992dup (p.Ser6998fs) rs2153553633
NM_001164508.2(NEB):c.20995A>T (p.Lys6999Ter) rs2153553617
NM_001164508.2(NEB):c.20997+13A>G
NM_001164508.2(NEB):c.20997+15A>G
NM_001164508.2(NEB):c.20997+17T>C
NM_001164508.2(NEB):c.20997+18T>C
NM_001164508.2(NEB):c.20997+7C>A rs1447554922
NM_001164508.2(NEB):c.20998-13dup rs1269728736
NM_001164508.2(NEB):c.20998-16del
NM_001164508.2(NEB):c.20998-19T>C
NM_001164508.2(NEB):c.20998-7A>G
NM_001164508.2(NEB):c.21006C>T (p.Tyr7002=) rs2153551206
NM_001164508.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001164508.2(NEB):c.21021G>A (p.Met7007Ile)
NM_001164508.2(NEB):c.21024C>T (p.Ser7008=) rs2153551145
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001164508.2(NEB):c.2102G>A (p.Ser701Asn)
NM_001164508.2(NEB):c.21033T>C (p.Gly7011=) rs2153551062
NM_001164508.2(NEB):c.21037T>G (p.Trp7013Gly) rs2153551039
NM_001164508.2(NEB):c.21046A>T (p.Ile7016Phe)
NM_001164508.2(NEB):c.21051T>G (p.Pro7017=)
NM_001164508.2(NEB):c.21052del (p.Asp7018fs) rs1576695735
NM_001164508.2(NEB):c.21055C>T (p.Arg7019Cys)
NM_001164508.2(NEB):c.21057T>C (p.Arg7019=)
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
NM_001164508.2(NEB):c.2106+11del rs1064794944
NM_001164508.2(NEB):c.2106+14C>A rs2149161572
NM_001164508.2(NEB):c.2106+3A>C rs1553589058
NM_001164508.2(NEB):c.21060A>G (p.Pro7020=)
NM_001164508.2(NEB):c.21060A>T (p.Pro7020=)
NM_001164508.2(NEB):c.21066T>C (p.His7022=)
NM_001164508.2(NEB):c.2107-13T>G
NM_001164508.2(NEB):c.2107-16G>T
NM_001164508.2(NEB):c.2107-4A>T
NM_001164508.2(NEB):c.2107-5_2107-3del rs1365598003
NM_001164508.2(NEB):c.21070del (p.His7024fs)
NM_001164508.2(NEB):c.21072C>T (p.His7024=)
NM_001164508.2(NEB):c.2107A>G (p.Lys703Glu)
NM_001164508.2(NEB):c.21090C>A (p.Asp7030Glu)
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs) rs1553688242
NM_001164508.2(NEB):c.21094G>C (p.Val7032Leu)
NM_001164508.2(NEB):c.21097A>C (p.Ser7033Arg)
NM_001164508.2(NEB):c.2109A>G (p.Lys703=) rs2099554454
NM_001164508.2(NEB):c.210G>A (p.Lys70=) rs2150921066
NM_001164508.2(NEB):c.21102+12C>T
NM_001164508.2(NEB):c.21102+13del
NM_001164508.2(NEB):c.21102+17_21102+19del
NM_001164508.2(NEB):c.21102+17del
NM_001164508.2(NEB):c.21102+18C>T
NM_001164508.2(NEB):c.21102+2_21102+3del
NM_001164508.2(NEB):c.21102+5G>A
NM_001164508.2(NEB):c.21102+7G>C
NM_001164508.2(NEB):c.21102+8T>C rs2153550373
NM_001164508.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001164508.2(NEB):c.21103-10C>A
NM_001164508.2(NEB):c.21103-14TCT[2] rs747602368
NM_001164508.2(NEB):c.21103-17T>C
NM_001164508.2(NEB):c.21103-1G>C
NM_001164508.2(NEB):c.21103-20T>C
NM_001164508.2(NEB):c.21108del (p.Lys7036fs)
NM_001164508.2(NEB):c.21111T>A (p.Tyr7037Ter)
NM_001164508.2(NEB):c.21115G>C (p.Glu7039Gln)
NM_001164508.2(NEB):c.2111G>A (p.Ser704Asn)
NM_001164508.2(NEB):c.21120C>T (p.Asp7040=) rs2153545616
NM_001164508.2(NEB):c.21124_21128del (p.Thr7042fs)
NM_001164508.2(NEB):c.21130del (p.Gly7046fs)
NM_001164508.2(NEB):c.21141del (p.Ile7047fs) rs2093339890
NM_001164508.2(NEB):c.21147C>T (p.Cys7049=) rs1239511851
NM_001164508.2(NEB):c.21162C>A (p.Thr7054=) rs766718173
NM_001164508.2(NEB):c.21167A>G (p.Asp7056Gly)
NM_001164508.2(NEB):c.21175C>T (p.Leu7059=)
NM_001164508.2(NEB):c.21189C>T (p.Asn7063=)
NM_001164508.2(NEB):c.2118A>G (p.Lys706=)
NM_001164508.2(NEB):c.21194C>T (p.Thr7065Ile)
NM_001164508.2(NEB):c.21197T>C (p.Leu7066Pro)
NM_001164508.2(NEB):c.21198C>G (p.Leu7066=) rs776018438
NM_001164508.2(NEB):c.21198_21199del (p.Tyr7067fs) rs2093334853
NM_001164508.2(NEB):c.21204C>T (p.Ser7068=)
NM_001164508.2(NEB):c.21207+10C>T rs2153544833
NM_001164508.2(NEB):c.21207+12C>T
NM_001164508.2(NEB):c.21207+15G>A
NM_001164508.2(NEB):c.21207+4T>C
NM_001164508.2(NEB):c.21207+6T>C
NM_001164508.2(NEB):c.21207+7_21207+8insCAGCAATTC
NM_001164508.2(NEB):c.21207+8T>C rs1553686509
NM_001164508.2(NEB):c.21207+9A>G rs553190163
NM_001164508.2(NEB):c.21208-10T>G
NM_001164508.2(NEB):c.21208-16G>A
NM_001164508.2(NEB):c.21208-18A>G
NM_001164508.2(NEB):c.21208-19C>T
NM_001164508.2(NEB):c.21208-20C>G
NM_001164508.2(NEB):c.21208-5del rs888362153
NM_001164508.2(NEB):c.21208-5dup rs888362153
NM_001164508.2(NEB):c.21208-7T>C
NM_001164508.2(NEB):c.21212A>C (p.Lys7071Thr)
NM_001164508.2(NEB):c.21212A>G (p.Lys7071Arg) rs2093050726
NM_001164508.2(NEB):c.21213del (p.Lys7071fs)
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
NM_001164508.2(NEB):c.21221A>G (p.Glu7074Gly) rs1190090108
NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys) rs1553587676
NM_001164508.2(NEB):c.21230_21231insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTATTTGA (p.Glu7077_Arg7078insAlaGlyArgGlyGlySerArgLeuTer)
NM_001164508.2(NEB):c.21234G>A (p.Arg7078=)
NM_001164508.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del) rs1553683478
NM_001164508.2(NEB):c.21245A>G (p.Asp7082Gly)
NM_001164508.2(NEB):c.21246T>G (p.Asp7082Glu) rs2153534764
NM_001164508.2(NEB):c.21252G>A (p.Lys7084=)
NM_001164508.2(NEB):c.21255T>C (p.Tyr7085=)
NM_001164508.2(NEB):c.21262G>A (p.Asp7088Asn)
NM_001164508.2(NEB):c.21264C>T (p.Asp7088=) rs1274750988
NM_001164508.2(NEB):c.21267T>C (p.Ser7089=)
NM_001164508.2(NEB):c.21270G>A (p.Pro7090=) rs368887173
NM_001164508.2(NEB):c.21279G>A (p.Arg7093=)
NM_001164508.2(NEB):c.21287A>G (p.Lys7096Arg)
NM_001164508.2(NEB):c.2128G>A (p.Glu710Lys)
NM_001164508.2(NEB):c.21291T>C (p.Tyr7097=)
NM_001164508.2(NEB):c.21296C>G (p.Thr7099Ser)
NM_001164508.2(NEB):c.21299_21302del (p.Gln7100fs)
NM_001164508.2(NEB):c.21300A>G (p.Gln7100=) rs1050612430
NM_001164508.2(NEB):c.21309T>C (p.Asn7103=)
NM_001164508.2(NEB):c.2130A>G (p.Glu710=) rs2149154304
NM_001164508.2(NEB):c.21312+16C>T
NM_001164508.2(NEB):c.21312+1G>A rs1553682994
NM_001164508.2(NEB):c.21312+7A>G rs2153534308
NM_001164508.2(NEB):c.2133A>G (p.Glu711=)
NM_001164508.2(NEB):c.2136T>C (p.Asp712=)
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu) rs1359338282
NM_001164508.2(NEB):c.2141G>A (p.Gly714Glu)
NM_001164508.2(NEB):c.2145A>G (p.Lys715=)
NM_001164508.2(NEB):c.2148C>A (p.Cys716Ter)
NM_001164508.2(NEB):c.214A>G (p.Ile72Val) rs1553698165
NM_001164508.2(NEB):c.2150A>G (p.Tyr717Cys)
NM_001164508.2(NEB):c.2155C>A (p.Pro719Thr) rs376503299
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.2160G>A (p.Gln720=)
NM_001164508.2(NEB):c.2163A>G (p.Thr721=)
NM_001164508.2(NEB):c.2164A>G (p.Ile722Val)
NM_001164508.2(NEB):c.2169A>C (p.Thr723=)
NM_001164508.2(NEB):c.2172A>G (p.Gln724=) rs2149152300
NM_001164508.2(NEB):c.2181A>G (p.Glu727=) rs2149152140
NM_001164508.2(NEB):c.2182G>A (p.Ala728Thr) rs1187124982
NM_001164508.2(NEB):c.2183C>T (p.Ala728Val)
NM_001164508.2(NEB):c.219G>A (p.Arg73=)
NM_001164508.2(NEB):c.2200C>T (p.Gln734Ter) rs780299519
NM_001164508.2(NEB):c.2202G>C (p.Gln734His)
NM_001164508.2(NEB):c.2211+11T>C
NM_001164508.2(NEB):c.2211+12G>T rs2099553755
NM_001164508.2(NEB):c.2211+15C>A
NM_001164508.2(NEB):c.2211+15C>G
NM_001164508.2(NEB):c.2211+19A>G
NM_001164508.2(NEB):c.2211+1G>A rs1553586486
NM_001164508.2(NEB):c.2211+2T>A rs2149150540
NM_001164508.2(NEB):c.2211+4A>C rs2099553895
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.2211T>C (p.Asp737=) rs765620977
NM_001164508.2(NEB):c.2212-12C>A
NM_001164508.2(NEB):c.2212-12C>G
NM_001164508.2(NEB):c.2212-12C>T
NM_001164508.2(NEB):c.2212-14A>G
NM_001164508.2(NEB):c.2212-18G>A
NM_001164508.2(NEB):c.2212-18G>C
NM_001164508.2(NEB):c.2212-18G>T
NM_001164508.2(NEB):c.2212-1G>A rs2149103521
NM_001164508.2(NEB):c.2212-2A>G rs1553580540
NM_001164508.2(NEB):c.2212-9C>T
NM_001164508.2(NEB):c.2212-9_2212-7del rs2099542943
NM_001164508.2(NEB):c.2216C>A (p.Thr739Asn) rs2099542868
NM_001164508.2(NEB):c.2223A>G (p.Lys741=)
NM_001164508.2(NEB):c.2226T>G (p.Val742=)
NM_001164508.2(NEB):c.2230C>T (p.Pro744Ser)
NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly) rs1436329266
NM_001164508.2(NEB):c.2235T>C (p.Asp745=) rs2149102627
NM_001164508.2(NEB):c.2240C>A (p.Thr747Asn)
NM_001164508.2(NEB):c.2241C>A (p.Thr747=) rs2149102366
NM_001164508.2(NEB):c.2241C>T (p.Thr747=) rs2149102366
NM_001164508.2(NEB):c.2243A>G (p.Lys748Arg)
NM_001164508.2(NEB):c.2244A>G (p.Lys748=) rs2149102227
NM_001164508.2(NEB):c.2250G>T (p.Thr750=)
NM_001164508.2(NEB):c.2252C>T (p.Ala751Val)
NM_001164508.2(NEB):c.2253A>G (p.Ala751=) rs2149101806
NM_001164508.2(NEB):c.2263T>C (p.Ser755Pro)
NM_001164508.2(NEB):c.2264C>G (p.Ser755Cys)
NM_001164508.2(NEB):c.2264C>T (p.Ser755Phe)
NM_001164508.2(NEB):c.2268T>C (p.Pro756=)
NM_001164508.2(NEB):c.2271A>G (p.Val757=)
NM_001164508.2(NEB):c.2272C>A (p.Leu758Met) rs866369010
NM_001164508.2(NEB):c.2294C>T (p.Thr765Met)
NM_001164508.2(NEB):c.2295G>A (p.Thr765=) rs1453312460
NM_001164508.2(NEB):c.2299C>T (p.Gln767Ter)
NM_001164508.2(NEB):c.2302C>A (p.Leu768Ile)
NM_001164508.2(NEB):c.230A>G (p.Asp77Gly)
NM_001164508.2(NEB):c.2310+14T>C
NM_001164508.2(NEB):c.2310+17A>C
NM_001164508.2(NEB):c.2310+17A>G
NM_001164508.2(NEB):c.2310+17A>T
NM_001164508.2(NEB):c.2310+18T>G
NM_001164508.2(NEB):c.2310+2T>A rs1553579092
NM_001164508.2(NEB):c.2310+2_2310+3delinsAC
NM_001164508.2(NEB):c.2310+5G>A
NM_001164508.2(NEB):c.2311-9_2311-8del rs2148992222
NM_001164508.2(NEB):c.2313G>A (p.Leu771=)
NM_001164508.2(NEB):c.231T>C (p.Asp77=)
NM_001164508.2(NEB):c.2320A>T (p.Lys774Ter)
NM_001164508.2(NEB):c.2331T>C (p.His777=)
NM_001164508.2(NEB):c.2332G>T (p.Glu778Ter)
NM_001164508.2(NEB):c.2336G>A (p.Gly779Asp)
NM_001164508.2(NEB):c.2337T>G (p.Gly779=)
NM_001164508.2(NEB):c.2338G>A (p.Glu780Lys)
NM_001164508.2(NEB):c.2348A>G (p.Lys783Arg) rs2099519230
NM_001164508.2(NEB):c.2349G>A (p.Lys783=)
NM_001164508.2(NEB):c.2352C>T (p.Cys784=)
NM_001164508.2(NEB):c.2353C>A (p.His785Asn) rs2099519209
NM_001164508.2(NEB):c.2358A>G (p.Ile786Met)
NM_001164508.2(NEB):c.2361A>C (p.Pro787=)
NM_001164508.2(NEB):c.2368_2370dup (p.Ala790dup) rs2148990366
NM_001164508.2(NEB):c.2370T>C (p.Ala790=)
NM_001164508.2(NEB):c.2376G>A (p.Gln792=)
NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg)
NM_001164508.2(NEB):c.2385del (p.Gln795fs) rs1553568167
NM_001164508.2(NEB):c.2388C>T (p.His796=) rs2148989447
NM_001164508.2(NEB):c.2388_2389del (p.His796fs)
NM_001164508.2(NEB):c.2390G>T (p.Arg797Ile)
NM_001164508.2(NEB):c.2391A>G (p.Arg797=) rs1031672649
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs) rs1057516938
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del) rs1553711235
NM_001164508.2(NEB):c.2402A>G (p.Tyr801Cys)
NM_001164508.2(NEB):c.2407C>T (p.Leu803=) rs2148988737
NM_001164508.2(NEB):c.2415+15C>T
NM_001164508.2(NEB):c.2415+18A>G
NM_001164508.2(NEB):c.2415+1G>A rs1057524581
NM_001164508.2(NEB):c.2415+20A>T
NM_001164508.2(NEB):c.2415+2dup rs1553567814
NM_001164508.2(NEB):c.2415+6T>C rs760614044
NM_001164508.2(NEB):c.2415+8C>T
NM_001164508.2(NEB):c.2416-15A>T rs753394142
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.2416-7T>C rs2148960853
NM_001164508.2(NEB):c.2416-8T>C rs2148960985
NM_001164508.2(NEB):c.2416-9C>A
NM_001164508.2(NEB):c.2424T>C (p.Tyr808=)
NM_001164508.2(NEB):c.2425A>T (p.Lys809Ter)
NM_001164508.2(NEB):c.2427G>A (p.Lys809=) rs1415817931
NM_001164508.2(NEB):c.2428C>T (p.Gln810Ter)
NM_001164508.2(NEB):c.2430A>G (p.Gln810=)
NM_001164508.2(NEB):c.2432A>T (p.Asp811Val) rs896028175
NM_001164508.2(NEB):c.2437G>T (p.Glu813Ter)
NM_001164508.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001164508.2(NEB):c.2451C>T (p.Ala817=) rs2099513754
NM_001164508.2(NEB):c.2457G>A (p.Lys819=)
NM_001164508.2(NEB):c.2460T>C (p.Phe820=) rs981135945
NM_001164508.2(NEB):c.2472_2638-455del
NM_001164508.2(NEB):c.2477C>T (p.Ala826Val)
NM_001164508.2(NEB):c.2478C>A (p.Ala826=) rs1233200041
NM_001164508.2(NEB):c.2479A>G (p.Ile827Val)
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val) rs2099513616
NM_001164508.2(NEB):c.2485C>T (p.Leu829=)
NM_001164508.2(NEB):c.2487G>A (p.Leu829=) rs768877114
NM_001164508.2(NEB):c.2493A>G (p.Ala831=)
NM_001164508.2(NEB):c.2496C>T (p.Ala832=)
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001164508.2(NEB):c.249C>A (p.Thr83=) rs200936927
NM_001164508.2(NEB):c.24G>A (p.Glu8=)
NM_001164508.2(NEB):c.2514C>T (p.Asn838=) rs962547010
NM_001164508.2(NEB):c.2517C>T (p.Thr839=)
NM_001164508.2(NEB):c.2523+10_2523+17del rs1553564544
NM_001164508.2(NEB):c.2523+17G>T
NM_001164508.2(NEB):c.2523+2T>A rs2099513404
NM_001164508.2(NEB):c.2523+6T>C rs2099513341
NM_001164508.2(NEB):c.2523+8T>C
NM_001164508.2(NEB):c.2524-10G>A
NM_001164508.2(NEB):c.2524-12A>G
NM_001164508.2(NEB):c.2524-12A>T
NM_001164508.2(NEB):c.2524-15G>A
NM_001164508.2(NEB):c.2524-17G>A
NM_001164508.2(NEB):c.2524-2A>G rs2148951277
NM_001164508.2(NEB):c.2524-9T>C
NM_001164508.2(NEB):c.2541C>T (p.Asp847=)
NM_001164508.2(NEB):c.2542T>C (p.Tyr848His)
NM_001164508.2(NEB):c.2547A>G (p.Glu849=) rs2148950522
NM_001164508.2(NEB):c.2549del (p.Lys850fs)
NM_001164508.2(NEB):c.254A>G (p.Tyr85Cys) rs1201662596
NM_001164508.2(NEB):c.2552G>A (p.Ser851Asn)
NM_001164508.2(NEB):c.2560_2561insTGAAATATTGATACAC (p.Lys854delinsMetLysTyrTer)
NM_001164508.2(NEB):c.2566_2569del (p.Ile856fs) rs2148949901
NM_001164508.2(NEB):c.2567T>C (p.Ile856Thr)
NM_001164508.2(NEB):c.2569G>A (p.Gly857Arg) rs1559253666
NM_001164508.2(NEB):c.2572G>A (p.Ala858Thr)
NM_001164508.2(NEB):c.2577C>G (p.Leu859=) rs777445109
NM_001164508.2(NEB):c.257T>C (p.Ile86Thr)
NM_001164508.2(NEB):c.2581A>G (p.Ile861Val) rs755695934
NM_001164508.2(NEB):c.2586T>A (p.Asn862Lys)
NM_001164508.2(NEB):c.2586T>C (p.Asn862=)
NM_001164508.2(NEB):c.258T>C (p.Ile86=) rs764472169
NM_001164508.2(NEB):c.2595A>G (p.Pro865=)
NM_001164508.2(NEB):c.25G>A (p.Glu9Lys) rs2151148401
NM_001164508.2(NEB):c.2607C>T (p.His869=) rs1576361832
NM_001164508.2(NEB):c.2609C>T (p.Ser870Phe) rs896068588
NM_001164508.2(NEB):c.2610C>T (p.Ser870=)
NM_001164508.2(NEB):c.2613_2614del (p.Lys872fs)
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
NM_001164508.2(NEB):c.2619A>G (p.Thr873=)
NM_001164508.2(NEB):c.2624A>G (p.Lys875Arg)
NM_001164508.2(NEB):c.2625A>G (p.Lys875=) rs1205199033
NM_001164508.2(NEB):c.2627del (p.Asn876fs)
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu) rs373892420
NM_001164508.2(NEB):c.2637+12T>C
NM_001164508.2(NEB):c.2637+20T>A
NM_001164508.2(NEB):c.2637+3G>C
NM_001164508.2(NEB):c.2637+7G>A
NM_001164508.2(NEB):c.2637+7G>C rs752706153
NM_001164508.2(NEB):c.2638-10C>T rs1576291664
NM_001164508.2(NEB):c.2638-18A>G
NM_001164508.2(NEB):c.2638-19G>T rs750188445
NM_001164508.2(NEB):c.2638-20T>C
NM_001164508.2(NEB):c.2638-4A>G rs1236565312
NM_001164508.2(NEB):c.2638-9T>C rs2148846461
NM_001164508.2(NEB):c.2640C>G (p.Arg880=)
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter) rs1333519240
NM_001164508.2(NEB):c.264C>T (p.His88=)
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
NM_001164508.2(NEB):c.2659G>A (p.Glu887Lys) rs1553558398
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001164508.2(NEB):c.2661A>G (p.Glu887=)
NM_001164508.2(NEB):c.2667A>G (p.Ser889=) rs2148844718
NM_001164508.2(NEB):c.2673T>C (p.Thr891=) rs2148844647
NM_001164508.2(NEB):c.2674A>G (p.Ile892Val)
NM_001164508.2(NEB):c.2675_2678del (p.Ile892fs) rs2148844303
NM_001164508.2(NEB):c.2678A>G (p.Tyr893Cys)
NM_001164508.2(NEB):c.2679C>T (p.Tyr893=)
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
NM_001164508.2(NEB):c.2681C>T (p.Thr894Met)
NM_001164508.2(NEB):c.2682G>A (p.Thr894=)
NM_001164508.2(NEB):c.2682G>C (p.Thr894=)
NM_001164508.2(NEB):c.2685A>G (p.Ala895=) rs2099481277
NM_001164508.2(NEB):c.2688T>A (p.Pro896=)
NM_001164508.2(NEB):c.2688T>C (p.Pro896=)
NM_001164508.2(NEB):c.2700C>G (p.Leu900=) rs2099481133
NM_001164508.2(NEB):c.2709T>C (p.Thr903=)
NM_001164508.2(NEB):c.2716A>T (p.Lys906Ter)
NM_001164508.2(NEB):c.2731A>G (p.Ile911Val)
NM_001164508.2(NEB):c.2740G>A (p.Asp914Asn)
NM_001164508.2(NEB):c.2743G>A (p.Val915Ile)
NM_001164508.2(NEB):c.2745T>G (p.Val915=) rs2148841610
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer) rs1553557405
NM_001164508.2(NEB):c.2757C>T (p.His919=)
NM_001164508.2(NEB):c.2760C>T (p.Ile920=) rs2148840948
NM_001164508.2(NEB):c.2761T>C (p.Leu921=)
NM_001164508.2(NEB):c.2762T>A (p.Leu921Ter)
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser) rs2099480203
NM_001164508.2(NEB):c.2766C>T (p.His922=)
NM_001164508.2(NEB):c.2769T>C (p.Ser923=)
NM_001164508.2(NEB):c.2772C>T (p.Tyr924=) rs1466946196
NM_001164508.2(NEB):c.2778C>A (p.Tyr926Ter) rs1576286971
NM_001164508.2(NEB):c.2778C>T (p.Tyr926=) rs1576286971
NM_001164508.2(NEB):c.2781C>A (p.Pro927=) rs745481666
NM_001164508.2(NEB):c.2781C>G (p.Pro927=) rs745481666
NM_001164508.2(NEB):c.2781C>T (p.Pro927=)
NM_001164508.2(NEB):c.2782C>G (p.Pro928Ala)
NM_001164508.2(NEB):c.2783del (p.Pro928fs)
NM_001164508.2(NEB):c.2786A>G (p.Asp929Gly)
NM_001164508.2(NEB):c.2796T>C (p.Asn932=) rs372724145
NM_001164508.2(NEB):c.2799G>A (p.Val933=)
NM_001164508.2(NEB):c.2803C>T (p.Leu935Phe)
NM_001164508.2(NEB):c.2817A>C (p.Ala939=) rs1576285597
NM_001164508.2(NEB):c.2820T>C (p.Tyr940=) rs1217380476
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val) rs765478068
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn)
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr) rs549231016
NM_001164508.2(NEB):c.2835+14G>A
NM_001164508.2(NEB):c.2835+17T>C
NM_001164508.2(NEB):c.2835+18C>T
NM_001164508.2(NEB):c.2835+19T>C
NM_001164508.2(NEB):c.2835+1G>A
NM_001164508.2(NEB):c.2835+20G>A
NM_001164508.2(NEB):c.2835+5G>C rs2148837364
NM_001164508.2(NEB):c.2835+7A>T
NM_001164508.2(NEB):c.2836-10G>T rs2148737884
NM_001164508.2(NEB):c.2836-13C>G
NM_001164508.2(NEB):c.2836-13C>T
NM_001164508.2(NEB):c.2836-15C>G
NM_001164508.2(NEB):c.2836-15C>T
NM_001164508.2(NEB):c.2836-19C>A
NM_001164508.2(NEB):c.2836-19C>T
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.2836-3del
NM_001164508.2(NEB):c.2836-9G>A rs2099429989
NM_001164508.2(NEB):c.283C>A (p.Leu95Ile)
NM_001164508.2(NEB):c.2855A>G (p.Tyr952Cys)
NM_001164508.2(NEB):c.2856C>T (p.Tyr952=) rs2148736842
NM_001164508.2(NEB):c.2858A>G (p.Asn953Ser)
NM_001164508.2(NEB):c.2859T>G (p.Asn953Lys)
NM_001164508.2(NEB):c.285T>C (p.Leu95=)
NM_001164508.2(NEB):c.2866A>T (p.Met956Leu)
NM_001164508.2(NEB):c.2874T>C (p.Gly958=)
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del) rs766232587
NM_001164508.2(NEB):c.2880_2883del (p.Trp961fs) rs2148735901
NM_001164508.2(NEB):c.2882G>A (p.Trp961Ter)
NM_001164508.2(NEB):c.2884G>A (p.Val962Met)
NM_001164508.2(NEB):c.288del (p.Phe96fs) rs2150918170
NM_001164508.2(NEB):c.2895G>A (p.Gly965=) rs761681205
NM_001164508.2(NEB):c.2896T>A (p.Ser966Thr)
NM_001164508.2(NEB):c.2904A>G (p.Glu968=) rs2099429615
NM_001164508.2(NEB):c.2906T>G (p.Met969Arg) rs2099429603
NM_001164508.2(NEB):c.2919G>A (p.Lys973=)
NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu) rs368642083
NM_001164508.2(NEB):c.2921_2924del (p.Arg974fs)
NM_001164508.2(NEB):c.2934C>A (p.Ile978=)
NM_001164508.2(NEB):c.2934C>T (p.Ile978=)
NM_001164508.2(NEB):c.294+10A>T
NM_001164508.2(NEB):c.294+12A>G
NM_001164508.2(NEB):c.294+20T>C
NM_001164508.2(NEB):c.294+9C>A
NM_001164508.2(NEB):c.2942A>G (p.Glu981Gly) rs1225494274
NM_001164508.2(NEB):c.2943+12G>C
NM_001164508.2(NEB):c.2943+13G>A
NM_001164508.2(NEB):c.2943+13G>C
NM_001164508.2(NEB):c.2943+15T>A
NM_001164508.2(NEB):c.2943+5dup rs2099429370
NM_001164508.2(NEB):c.2943+9A>G rs934975132
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.2944-17T>C
NM_001164508.2(NEB):c.2944-1G>A rs1553542669
NM_001164508.2(NEB):c.2944-20C>G
NM_001164508.2(NEB):c.2944-20_2944-19del rs2099408915
NM_001164508.2(NEB):c.2944-5A>C
NM_001164508.2(NEB):c.295-11A>G
NM_001164508.2(NEB):c.295-16C>G
NM_001164508.2(NEB):c.295-19T>C rs1012626849
NM_001164508.2(NEB):c.295-1G>T rs111300270
NM_001164508.2(NEB):c.295-9T>C
NM_001164508.2(NEB):c.2951dup (p.Tyr984Ter)
NM_001164508.2(NEB):c.2952T>C (p.Tyr984=) rs2148652653
NM_001164508.2(NEB):c.2953C>T (p.Arg985Cys)
NM_001164508.2(NEB):c.2956C>T (p.Gln986Ter)
NM_001164508.2(NEB):c.2957A>G (p.Gln986Arg) rs781465553
NM_001164508.2(NEB):c.2967C>T (p.Asp989=) rs2148652021
NM_001164508.2(NEB):c.296A>T (p.Asn99Ile)
NM_001164508.2(NEB):c.2970C>T (p.Thr990=) rs747505579
NM_001164508.2(NEB):c.2975A>T (p.Lys992Met)
NM_001164508.2(NEB):c.2976G>A (p.Lys992=) rs2148651722
NM_001164508.2(NEB):c.297T>C (p.Asn99=)
NM_001164508.2(NEB):c.2982C>G (p.Thr994=) rs915137065
NM_001164508.2(NEB):c.2984C>T (p.Ser995Leu)
NM_001164508.2(NEB):c.2985G>T (p.Ser995=) rs574544074
NM_001164508.2(NEB):c.2987T>A (p.Ile996Asn)
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr) rs753691207
NM_001164508.2(NEB):c.2988T>C (p.Ile996=) rs2148651197
NM_001164508.2(NEB):c.2998C>G (p.Pro1000Ala) rs763910385
NM_001164508.2(NEB):c.3000A>G (p.Pro1000=) rs2148650754
NM_001164508.2(NEB):c.3001A>G (p.Ile1001Val)
NM_001164508.2(NEB):c.3009A>G (p.Val1003=) rs1246812656
NM_001164508.2(NEB):c.3018_3019insCATCT (p.Ile1007fs)
NM_001164508.2(NEB):c.3022A>G (p.Asn1008Asp) rs1576128802
NM_001164508.2(NEB):c.3024C>T (p.Asn1008=) rs1273538969
NM_001164508.2(NEB):c.3025C>T (p.Gln1009Ter)
NM_001164508.2(NEB):c.3027G>A (p.Gln1009=) rs2148649753
NM_001164508.2(NEB):c.3028G>A (p.Ala1010Thr)
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro) rs770003609
NM_001164508.2(NEB):c.3030C>A (p.Ala1010=) rs2148649456
NM_001164508.2(NEB):c.3036G>A (p.Arg1012=) rs2148649309
NM_001164508.2(NEB):c.3042+12T>C rs2099408260
NM_001164508.2(NEB):c.3042+13_3042+15del rs2099408213
NM_001164508.2(NEB):c.3042+14C>T
NM_001164508.2(NEB):c.3042+16A>G
NM_001164508.2(NEB):c.3042+1G>A rs2099408391
NM_001164508.2(NEB):c.3042+1G>T
NM_001164508.2(NEB):c.3042+20A>G
NM_001164508.2(NEB):c.3042+3_3042+6del rs2099408346
NM_001164508.2(NEB):c.3043-14T>G
NM_001164508.2(NEB):c.3043-16dup rs760628422
NM_001164508.2(NEB):c.3043-17A>T
NM_001164508.2(NEB):c.3043-1G>A rs113326313
NM_001164508.2(NEB):c.3043-8T>A
NM_001164508.2(NEB):c.3045C>T (p.Ile1015=) rs773307085
NM_001164508.2(NEB):c.3046G>A (p.Ala1016Thr)
NM_001164508.2(NEB):c.3047C>T (p.Ala1016Val) rs2148609477
NM_001164508.2(NEB):c.306G>A (p.Lys102=) rs751951834
NM_001164508.2(NEB):c.306G>C (p.Lys102Asn)
NM_001164508.2(NEB):c.3071T>C (p.Ile1024Thr)
NM_001164508.2(NEB):c.3072T>A (p.Ile1024=) rs1361252038
NM_001164508.2(NEB):c.3072T>C (p.Ile1024=) rs1361252038
NM_001164508.2(NEB):c.3076C>T (p.His1026Tyr)
NM_001164508.2(NEB):c.307G>C (p.Glu103Gln)
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter) rs2099402392
NM_001164508.2(NEB):c.3084C>T (p.Tyr1028=) rs2099402392
NM_001164508.2(NEB):c.3085A>C (p.Asn1029His)
NM_001164508.2(NEB):c.3088C>T (p.Leu1030=)
NM_001164508.2(NEB):c.3096del (p.Asp1033fs)
NM_001164508.2(NEB):c.3098A>G (p.Asp1033Gly)
NM_001164508.2(NEB):c.3101T>C (p.Leu1034Pro)
NM_001164508.2(NEB):c.3102G>T (p.Leu1034=)
NM_001164508.2(NEB):c.3117G>A (p.Gln1039=) rs2148607009
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.312G>A (p.Lys104=)
NM_001164508.2(NEB):c.3136A>G (p.Asn1046Asp) rs200564629
NM_001164508.2(NEB):c.3136A>T (p.Asn1046Tyr) rs200564629
NM_001164508.2(NEB):c.3141C>T (p.Ile1047=)
NM_001164508.2(NEB):c.3147+11G>A
NM_001164508.2(NEB):c.3147+12G>T
NM_001164508.2(NEB):c.3147+14C>T
NM_001164508.2(NEB):c.3147+19G>A
NM_001164508.2(NEB):c.3147+1del rs1553539777
NM_001164508.2(NEB):c.3147+5G>T
NM_001164508.2(NEB):c.3147+8G>A
NM_001164508.2(NEB):c.3148-14C>A
NM_001164508.2(NEB):c.3148-19A>G rs2148599601
NM_001164508.2(NEB):c.3148-3C>A
NM_001164508.2(NEB):c.3148-7C>A
NM_001164508.2(NEB):c.3148-8T>G
NM_001164508.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001164508.2(NEB):c.3156C>T (p.Tyr1052=) rs1386755643
NM_001164508.2(NEB):c.3165C>G (p.Asp1055Glu)
NM_001164508.2(NEB):c.3175T>C (p.Leu1059=) rs1449746588
NM_001164508.2(NEB):c.3178_3179del (p.Ser1060fs)
NM_001164508.2(NEB):c.3179G>A (p.Ser1060Asn)
NM_001164508.2(NEB):c.3181A>T (p.Lys1061Ter)
NM_001164508.2(NEB):c.3183G>C (p.Lys1061Asn)
NM_001164508.2(NEB):c.3186G>A (p.Lys1062=)
NM_001164508.2(NEB):c.3187G>T (p.Gly1063Ter)
NM_001164508.2(NEB):c.3190T>A (p.Tyr1064Asn) rs2148596836
NM_001164508.2(NEB):c.31G>T (p.Val11Leu)
NM_001164508.2(NEB):c.3204T>C (p.Thr1068=) rs2148596361
NM_001164508.2(NEB):c.3207T>C (p.Asp1069=) rs1419430871
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly) rs371710158
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val) rs371710158
NM_001164508.2(NEB):c.3210G>T (p.Ala1070=)
NM_001164508.2(NEB):c.3218_3226dup (p.Ala1075_Ala1076insValArgAla) rs1553539039
NM_001164508.2(NEB):c.3219C>T (p.Ile1073=)
NM_001164508.2(NEB):c.321A>G (p.Lys107=) rs2150799276
NM_001164508.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup) rs1553539015
NM_001164508.2(NEB):c.3223G>A (p.Ala1075Thr)
NM_001164508.2(NEB):c.3230A>G (p.Lys1077Arg) rs2099400877
NM_001164508.2(NEB):c.3235G>T (p.Ala1079Ser) rs1576082029
NM_001164508.2(NEB):c.3238_3239insAACCTGCCA (p.Ala1079_Arg1080insLysProAla) rs2099400833
NM_001164508.2(NEB):c.3241C>A (p.Gln1081Lys)
NM_001164508.2(NEB):c.3252T>C (p.Ser1084=) rs1576081225
NM_001164508.2(NEB):c.3252_3255+3del rs1559168230
NM_001164508.2(NEB):c.3253G>A (p.Asp1085Asn) rs2099400725
NM_001164508.2(NEB):c.3255+16G>T
NM_001164508.2(NEB):c.3255+18C>T
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3255+1del rs1553538835
NM_001164508.2(NEB):c.3255+9A>G
NM_001164508.2(NEB):c.3256-11G>A
NM_001164508.2(NEB):c.3256-11G>T
NM_001164508.2(NEB):c.3256-12T>C
NM_001164508.2(NEB):c.3256-15C>A rs765679622
NM_001164508.2(NEB):c.3256-15C>T
NM_001164508.2(NEB):c.3256-19C>T
NM_001164508.2(NEB):c.3256-5A>C
NM_001164508.2(NEB):c.3264C>T (p.Tyr1088=)
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer) rs2099386637
NM_001164508.2(NEB):c.3267A>G (p.Lys1089=) rs2148501395
NM_001164508.2(NEB):c.3270del (p.Asp1091fs) rs2099386610
NM_001164508.2(NEB):c.3270dup (p.Asp1091fs)
NM_001164508.2(NEB):c.3271G>T (p.Asp1091Tyr)
NM_001164508.2(NEB):c.3277G>T (p.Glu1093Ter)
NM_001164508.2(NEB):c.3286A>G (p.Lys1096Glu)
NM_001164508.2(NEB):c.329G>C (p.Gly110Ala)
NM_001164508.2(NEB):c.330A>G (p.Gly110=)
NM_001164508.2(NEB):c.3318A>G (p.Gln1106=)
NM_001164508.2(NEB):c.331C>T (p.Gln111Ter)
NM_001164508.2(NEB):c.3320A>T (p.Asp1107Val)
NM_001164508.2(NEB):c.3328A>T (p.Lys1110Ter)
NM_001164508.2(NEB):c.3330A>G (p.Lys1110=)
NM_001164508.2(NEB):c.3330del (p.Lys1110fs)
NM_001164508.2(NEB):c.3331C>T (p.Leu1111=)
NM_001164508.2(NEB):c.3338_3339insATGTC (p.His1113fs)
NM_001164508.2(NEB):c.333G>A (p.Gln111=)
NM_001164508.2(NEB):c.3342T>A (p.Tyr1114Ter)
NM_001164508.2(NEB):c.3352G>T (p.Ala1118Ser) rs1225381477
NM_001164508.2(NEB):c.3362A>G (p.Gln1121Arg) rs1559152642
NM_001164508.2(NEB):c.3363A>G (p.Gln1121=) rs370560340
NM_001164508.2(NEB):c.3363A>T (p.Gln1121His)
NM_001164508.2(NEB):c.3366A>C (p.Ser1122=)
NM_001164508.2(NEB):c.3373G>T (p.Glu1125Ter)
NM_001164508.2(NEB):c.3378T>C (p.Tyr1126=) rs2148497319
NM_001164508.2(NEB):c.3382A>T (p.Lys1128Ter)
NM_001164508.2(NEB):c.3383_3384del (p.Lys1128fs)
NM_001164508.2(NEB):c.3384del (p.Asp1129fs) rs2099386045
NM_001164508.2(NEB):c.3389A>G (p.Tyr1130Cys)
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
NM_001164508.2(NEB):c.3394_3395insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATGAGA (p.Lys1132delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysArgLeuTer)
NM_001164508.2(NEB):c.3396G>A (p.Lys1132=)
NM_001164508.2(NEB):c.3397A>G (p.Thr1133Ala) rs1294520829
NM_001164508.2(NEB):c.3400_3401del (p.Lys1134fs) rs2148495720
NM_001164508.2(NEB):c.3401del (p.Lys1134fs)
NM_001164508.2(NEB):c.3402G>A (p.Lys1134=) rs1376146835
NM_001164508.2(NEB):c.3405C>T (p.Ser1135=) rs2148495367
NM_001164508.2(NEB):c.3417G>A (p.Thr1139=) rs372593815
NM_001164508.2(NEB):c.3417G>C (p.Thr1139=) rs372593815
NM_001164508.2(NEB):c.3417G>T (p.Thr1139=) rs372593815
NM_001164508.2(NEB):c.341C>T (p.Ala114Val)
NM_001164508.2(NEB):c.3420C>T (p.Pro1140=)
NM_001164508.2(NEB):c.3423T>C (p.His1141=)
NM_001164508.2(NEB):c.3424G>A (p.Asp1142Asn) rs747102490
NM_001164508.2(NEB):c.3428T>A (p.Met1143Lys) rs1428000725
NM_001164508.2(NEB):c.3432_3433del (p.Phe1144fs)
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001164508.2(NEB):c.3444G>C (p.Ala1148=) rs375569766
NM_001164508.2(NEB):c.3445G>T (p.Ala1149Ser) rs752178904
NM_001164508.2(NEB):c.3447T>C (p.Ala1149=)
NM_001164508.2(NEB):c.3448A>T (p.Lys1150Ter)
NM_001164508.2(NEB):c.3453A>G (p.Lys1151=)
NM_001164508.2(NEB):c.3456C>G (p.Ala1152=) rs1020491664
NM_001164508.2(NEB):c.3459G>A (p.Gln1153=)
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) rs1463906422
NM_001164508.2(NEB):c.3474T>C (p.Asn1158=)
NM_001164508.2(NEB):c.3474T>G (p.Asn1158Lys)
NM_001164508.2(NEB):c.3477C>T (p.Val1159=) rs2154210477
NM_001164508.2(NEB):c.3480C>T (p.Asn1160=)
NM_001164508.2(NEB):c.3495C>T (p.Leu1165=)
NM_001164508.2(NEB):c.3500A>G (p.His1167Arg) rs2154210444
NM_001164508.2(NEB):c.3501T>C (p.His1167=)
NM_001164508.2(NEB):c.3504C>T (p.Tyr1168=)
NM_001164508.2(NEB):c.3510C>T (p.Tyr1170=)
NM_001164508.2(NEB):c.3516T>C (p.Pro1172=)
NM_001164508.2(NEB):c.3527A>G (p.Asp1176Gly)
NM_001164508.2(NEB):c.3529C>T (p.Leu1177=)
NM_001164508.2(NEB):c.352G>T (p.Asp118Tyr)
NM_001164508.2(NEB):c.3537G>C (p.Leu1179=)
NM_001164508.2(NEB):c.3541A>G (p.Lys1181Glu)
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001164508.2(NEB):c.3546C>T (p.Asn1182=)
NM_001164508.2(NEB):c.3551T>C (p.Met1184Thr) rs1308063415
NM_001164508.2(NEB):c.3552G>A (p.Met1184Ile)
NM_001164508.2(NEB):c.3553C>T (p.Gln1185Ter)
NM_001164508.2(NEB):c.3562_3563del (p.Gln1187_Ser1188insTer) rs2154210386
NM_001164508.2(NEB):c.3567+10A>G
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.3567+1G>C rs587780399
NM_001164508.2(NEB):c.3567+3_3567+6del rs1553534336
NM_001164508.2(NEB):c.3567+9C>T rs900791990
NM_001164508.2(NEB):c.3568-15_3568-14insGCCCTCACTCCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_001164508.2(NEB):c.3568-16T>C
NM_001164508.2(NEB):c.3568-4G>A
NM_001164508.2(NEB):c.3573C>T (p.Val1191=) rs2154210026
NM_001164508.2(NEB):c.357T>G (p.Thr119=)
NM_001164508.2(NEB):c.3585C>T (p.Asp1195=) rs773399820
NM_001164508.2(NEB):c.36+10A>T rs751246882
NM_001164508.2(NEB):c.36+14A>C
NM_001164508.2(NEB):c.36+15_36+21del
NM_001164508.2(NEB):c.36+19A>G
NM_001164508.2(NEB):c.36+19del
NM_001164508.2(NEB):c.36+19dup rs148527227
NM_001164508.2(NEB):c.36+1G>C rs1553711195
NM_001164508.2(NEB):c.36+2dup
NM_001164508.2(NEB):c.36+4A>G
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter) rs748453057
NM_001164508.2(NEB):c.3612C>T (p.Gly1204=)
NM_001164508.2(NEB):c.3616A>G (p.Ile1206Val)
NM_001164508.2(NEB):c.3618T>C (p.Ile1206=)
NM_001164508.2(NEB):c.3630T>C (p.Ser1210=)
NM_001164508.2(NEB):c.3630T>G (p.Ser1210Arg)
NM_001164508.2(NEB):c.3636C>A (p.Asp1212Glu)
NM_001164508.2(NEB):c.363A>G (p.Glu121=) rs1577944014
NM_001164508.2(NEB):c.3642A>G (p.Glu1214=) rs2154209881
NM_001164508.2(NEB):c.3648del (p.Lys1218fs)
NM_001164508.2(NEB):c.3649A>T (p.Lys1217Ter)
NM_001164508.2(NEB):c.3653del (p.Lys1218fs)
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
NM_001164508.2(NEB):c.3664G>T (p.Ala1222Ser)
NM_001164508.2(NEB):c.3664del (p.Ala1222fs)
NM_001164508.2(NEB):c.3669G>A (p.Leu1223=)
NM_001164508.2(NEB):c.3669G>C (p.Leu1223=) rs762989771
NM_001164508.2(NEB):c.3669G>T (p.Leu1223=)
NM_001164508.2(NEB):c.3676AAG[1] (p.Lys1227del) rs1553532187
NM_001164508.2(NEB):c.3677A>G (p.Lys1226Arg) rs2099381015
NM_001164508.2(NEB):c.3679A>T (p.Lys1227Ter)
NM_001164508.2(NEB):c.3681G>A (p.Lys1227=) rs2154209764
NM_001164508.2(NEB):c.3681G>T (p.Lys1227Asn)
NM_001164508.2(NEB):c.3690A>G (p.Gln1230=) rs1575989207
NM_001164508.2(NEB):c.3691del (p.His1231fs)
NM_001164508.2(NEB):c.3694C>G (p.Pro1232Ala) rs776796255
NM_001164508.2(NEB):c.3698A>G (p.Asp1233Gly)
NM_001164508.2(NEB):c.37-10C>T
NM_001164508.2(NEB):c.37-13G>A
NM_001164508.2(NEB):c.37-15G>A
NM_001164508.2(NEB):c.37-19C>G
NM_001164508.2(NEB):c.37-1G>C rs1428597732
NM_001164508.2(NEB):c.37-7T>C rs2150995508
NM_001164508.2(NEB):c.3700A>G (p.Thr1234Ala)
NM_001164508.2(NEB):c.3702C>T (p.Thr1234=) rs2099380409
NM_001164508.2(NEB):c.3705C>G (p.Leu1235=)
NM_001164508.2(NEB):c.3708A>G (p.Lys1236=) rs1195608343
NM_001164508.2(NEB):c.3708A>T (p.Lys1236Asn)
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile) rs1311528896
NM_001164508.2(NEB):c.3714C>G (p.Thr1238=)
NM_001164508.2(NEB):c.3714C>T (p.Thr1238=)
NM_001164508.2(NEB):c.3715A>C (p.Ser1239Arg) rs759109957
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg) rs765671775
NM_001164508.2(NEB):c.371G>C (p.Arg124Thr)
NM_001164508.2(NEB):c.3724G>A (p.Asp1242Asn)
NM_001164508.2(NEB):c.3729C>T (p.Ser1243=)
NM_001164508.2(NEB):c.3731del (p.Pro1244fs) rs2154209597
NM_001164508.2(NEB):c.3732A>G (p.Pro1244=) rs1282060717
NM_001164508.2(NEB):c.3739G>T (p.Val1247Phe)
NM_001164508.2(NEB):c.3744G>A (p.Gln1248=)
NM_001164508.2(NEB):c.3751C>G (p.Gln1251Glu)
NM_001164508.2(NEB):c.3759G>T (p.Thr1253=)
NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) rs1553531184
NM_001164508.2(NEB):c.375C>A (p.Ile125=) rs753284331
NM_001164508.2(NEB):c.3762G>A (p.Lys1254=)
NM_001164508.2(NEB):c.3774+13A>G rs2154209411
NM_001164508.2(NEB):c.3774+15del
NM_001164508.2(NEB):c.3774+17A>G
NM_001164508.2(NEB):c.3774+1G>A rs111293259
NM_001164508.2(NEB):c.3774+20G>A
NM_001164508.2(NEB):c.3774+2T>C rs1553531049
NM_001164508.2(NEB):c.3774+4A>C rs1026503983
NM_001164508.2(NEB):c.3774+8C>A
NM_001164508.2(NEB):c.3774+8C>T rs994987584
NM_001164508.2(NEB):c.3775-15T>C
NM_001164508.2(NEB):c.3775-4G>A rs1158268058
NM_001164508.2(NEB):c.3776T>C (p.Ile1259Thr) rs1553522143
NM_001164508.2(NEB):c.3777C>A (p.Ile1259=)
NM_001164508.2(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001164508.2(NEB):c.3780_3782delinsT (p.Leu1260fs)
NM_001164508.2(NEB):c.3784A>G (p.Lys1262Glu)
NM_001164508.2(NEB):c.3786G>A (p.Lys1262=) rs112229327
NM_001164508.2(NEB):c.3786G>T (p.Lys1262Asn)
NM_001164508.2(NEB):c.3788C>A (p.Ala1263Asp) rs1575886894
NM_001164508.2(NEB):c.3789T>C (p.Ala1263=)
NM_001164508.2(NEB):c.3795AGA[1] (p.Glu1266del) rs1553522046
NM_001164508.2(NEB):c.3807A>C (p.Lys1269Asn)
NM_001164508.2(NEB):c.3807A>G (p.Lys1269=)
NM_001164508.2(NEB):c.3815A>G (p.Tyr1272Cys) rs925465070
NM_001164508.2(NEB):c.3817A>G (p.Thr1273Ala)
NM_001164508.2(NEB):c.381A>G (p.Lys127=) rs2150795979
NM_001164508.2(NEB):c.3827C>G (p.Pro1276Arg)
NM_001164508.2(NEB):c.3843del (p.Leu1282fs) rs2154199737
NM_001164508.2(NEB):c.3846C>T (p.Leu1282=)
NM_001164508.2(NEB):c.3853A>G (p.Lys1285Glu)
NM_001164508.2(NEB):c.3855G>A (p.Lys1285=) rs2154199724
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001164508.2(NEB):c.3860dup (p.Asn1287fs)
NM_001164508.2(NEB):c.3861T>C (p.Asn1287=)
NM_001164508.2(NEB):c.3862G>A (p.Ala1288Thr) rs775943165
NM_001164508.2(NEB):c.3862G>T (p.Ala1288Ser)
NM_001164508.2(NEB):c.3864T>C (p.Ala1288=) rs768145490
NM_001164508.2(NEB):c.3869A>G (p.Asn1290Ser)
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
NM_001164508.2(NEB):c.3872_3873insTCTAA (p.Ser1292fs)
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3879+12C>T
NM_001164508.2(NEB):c.3879+2T>C rs2099350888
NM_001164508.2(NEB):c.3879+2dup rs2099350895
NM_001164508.2(NEB):c.3879C>T (p.Asp1293=)
NM_001164508.2(NEB):c.387A>G (p.Gln129=) rs755228645
NM_001164508.2(NEB):c.3880-12dup rs2099344412
NM_001164508.2(NEB):c.3880-1G>T rs1057516381
NM_001164508.2(NEB):c.3880-20C>G
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3880-4C>G rs1215078103
NM_001164508.2(NEB):c.3889A>T (p.Lys1297Ter)
NM_001164508.2(NEB):c.3892C>A (p.Arg1298=) rs766892385
NM_001164508.2(NEB):c.3892C>T (p.Arg1298Trp)
NM_001164508.2(NEB):c.3893G>A (p.Arg1298Gln)
NM_001164508.2(NEB):c.3896A>T (p.Asp1299Val)
NM_001164508.2(NEB):c.3897T>C (p.Asp1299=) rs2154198185
NM_001164508.2(NEB):c.3902A>G (p.Tyr1301Cys)
NM_001164508.2(NEB):c.3906C>T (p.Asp1302=) rs2099344073
NM_001164508.2(NEB):c.3910A>G (p.Ile1304Val)
NM_001164508.2(NEB):c.3911T>A (p.Ile1304Lys)
NM_001164508.2(NEB):c.3918G>T (p.Lys1306Asn)
NM_001164508.2(NEB):c.3920G>A (p.Gly1307Asp)
NM_001164508.2(NEB):c.3924C>T (p.Asn1308=)
NM_001164508.2(NEB):c.3930G>A (p.Val1310=)
NM_001164508.2(NEB):c.3933G>A (p.Leu1311=)
NM_001164508.2(NEB):c.3938A>G (p.Asp1313Gly) rs2154198103
NM_001164508.2(NEB):c.393A>G (p.Gln131=) rs2150795278
NM_001164508.2(NEB):c.3940G>A (p.Ala1314Thr) rs2154198100
NM_001164508.2(NEB):c.3943A>G (p.Ile1315Val)
NM_001164508.2(NEB):c.3943_3945delinsTGG (p.Ile1315Trp)
NM_001164508.2(NEB):c.394C>T (p.Leu132Phe) rs2099787743
NM_001164508.2(NEB):c.3954T>C (p.Thr1318=) rs2154198083
NM_001164508.2(NEB):c.3966A>G (p.Ala1322=)
NM_001164508.2(NEB):c.3969G>C (p.Ser1323=) rs933068354
NM_001164508.2(NEB):c.3978T>A (p.Ile1326=)
NM_001164508.2(NEB):c.3987+10A>C
NM_001164508.2(NEB):c.3987+12T>G
NM_001164508.2(NEB):c.3987+17G>C
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3987+7A>T
NM_001164508.2(NEB):c.3988-17C>T
NM_001164508.2(NEB):c.3988-19C>T
NM_001164508.2(NEB):c.3988-1G>A rs1553517128
NM_001164508.2(NEB):c.3988-2A>G rs924831918
NM_001164508.2(NEB):c.3988-4A>G rs2154193957
NM_001164508.2(NEB):c.3988-7T>C
NM_001164508.2(NEB):c.3988-9C>T rs753291655
NM_001164508.2(NEB):c.3990T>C (p.Tyr1330=) rs2154193939
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter) rs1559093497
NM_001164508.2(NEB):c.3997A>T (p.Lys1333Ter)
NM_001164508.2(NEB):c.39C>G (p.Tyr13Ter)
NM_001164508.2(NEB):c.4008T>C (p.Tyr1336=) rs2154193902
NM_001164508.2(NEB):c.4010A>G (p.Glu1337Gly) rs921890762
NM_001164508.2(NEB):c.4011G>A (p.Glu1337=) rs1314762146
NM_001164508.2(NEB):c.401A>G (p.Glu134Gly) rs2150794998
NM_001164508.2(NEB):c.402+10A>G rs1391326523
NM_001164508.2(NEB):c.402+11T>C
NM_001164508.2(NEB):c.402+12del
NM_001164508.2(NEB):c.402+13G>A
NM_001164508.2(NEB):c.402+1G>T
NM_001164508.2(NEB):c.402+4G>A rs1162289427
NM_001164508.2(NEB):c.402+4_402+27del
NM_001164508.2(NEB):c.4027C>G (p.His1343Asp)
NM_001164508.2(NEB):c.4029T>A (p.His1343Gln)
NM_001164508.2(NEB):c.4029T>C (p.His1343=) rs758866056
NM_001164508.2(NEB):c.403-13A>G
NM_001164508.2(NEB):c.403-15G>A
NM_001164508.2(NEB):c.403-16T>G
NM_001164508.2(NEB):c.403-17G>T
NM_001164508.2(NEB):c.403-18T>C
NM_001164508.2(NEB):c.403-1G>C
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.403-6G>C
NM_001164508.2(NEB):c.403-6_405del rs1553689774
NM_001164508.2(NEB):c.403-8T>C rs1375474955
NM_001164508.2(NEB):c.403-9T>C
NM_001164508.2(NEB):c.4032G>A (p.Val1344=) rs373748794
NM_001164508.2(NEB):c.4034G>A (p.Gly1345Asp)
NM_001164508.2(NEB):c.4042A>G (p.Ser1348Gly)
NM_001164508.2(NEB):c.4047C>G (p.Leu1349=)
NM_001164508.2(NEB):c.4047C>T (p.Leu1349=)
NM_001164508.2(NEB):c.4047_4048del (p.Gln1350fs)
NM_001164508.2(NEB):c.4066del (p.Val1356fs)
NM_001164508.2(NEB):c.4069del (p.His1357fs)
NM_001164508.2(NEB):c.4073A>G (p.Tyr1358Cys) rs1223706560
NM_001164508.2(NEB):c.4075A>G (p.Met1359Val)
NM_001164508.2(NEB):c.4080T>C (p.Asn1360=) rs766450256
NM_001164508.2(NEB):c.4090C>T (p.Leu1364=) rs2154193747
NM_001164508.2(NEB):c.4091T>C (p.Leu1364Pro)
NM_001164508.2(NEB):c.4092G>A (p.Leu1364=)
NM_001164508.2(NEB):c.4092G>T (p.Leu1364=) rs768820251
NM_001164508.2(NEB):c.4097C>A (p.Ser1366Tyr)
NM_001164508.2(NEB):c.4113G>A (p.Lys1371=)
NM_001164508.2(NEB):c.4119C>A (p.Asn1373Lys) rs377653217
NM_001164508.2(NEB):c.4125G>A (p.Glu1375=) rs199897201
NM_001164508.2(NEB):c.4128C>T (p.Asn1376=) rs1340723785
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4131C>T (p.Thr1377=)
NM_001164508.2(NEB):c.4132A>T (p.Lys1378Ter) rs2154193668
NM_001164508.2(NEB):c.4133A>G (p.Lys1378Arg)
NM_001164508.2(NEB):c.4137C>A (p.Thr1379=)
NM_001164508.2(NEB):c.4137C>T (p.Thr1379=) rs1320711048
NM_001164508.2(NEB):c.413del (p.Arg138fs)
NM_001164508.2(NEB):c.4140C>T (p.Ser1380=)
NM_001164508.2(NEB):c.4144C>G (p.His1382Asp) rs2099313352
NM_001164508.2(NEB):c.4145A>G (p.His1382Arg)
NM_001164508.2(NEB):c.4146T>C (p.His1382=)
NM_001164508.2(NEB):c.4148C>T (p.Thr1383Ile)
NM_001164508.2(NEB):c.4149C>A (p.Thr1383=)
NM_001164508.2(NEB):c.4151_4152insAGGAACACCAAAACCAGCTACCATACCCC (p.Asp1386fs)
NM_001164508.2(NEB):c.4154G>A (p.Gly1385Glu)
NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr) rs760822809
NM_001164508.2(NEB):c.4167C>T (p.Ser1389=) rs772315688
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
NM_001164508.2(NEB):c.4186G>T (p.Ala1396Ser)
NM_001164508.2(NEB):c.4187C>T (p.Ala1396Val)
NM_001164508.2(NEB):c.4192G>T (p.Asp1398Tyr)
NM_001164508.2(NEB):c.4206T>C (p.Asn1402=)
NM_001164508.2(NEB):c.4209C>T (p.Val1403=) rs1238068883
NM_001164508.2(NEB):c.4214A>G (p.Tyr1405Cys)
NM_001164508.2(NEB):c.4224A>G (p.Pro1408=) rs2099312556
NM_001164508.2(NEB):c.422G>A (p.Gly141Asp) rs973669056
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
NM_001164508.2(NEB):c.423T>G (p.Gly141=) rs759036441
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln) rs2099312411
NM_001164508.2(NEB):c.4251C>A (p.Asp1417Glu)
NM_001164508.2(NEB):c.4256T>C (p.Met1419Thr)
NM_001164508.2(NEB):c.4264G>C (p.Glu1422Gln) rs921972170
NM_001164508.2(NEB):c.4265A>C (p.Glu1422Ala)
NM_001164508.2(NEB):c.4265_4266del (p.Glu1422fs)
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.4272G>A (p.Thr1424=) rs35654397
NM_001164508.2(NEB):c.4284T>C (p.Asn1428=) rs2154193351
NM_001164508.2(NEB):c.4287A>G (p.Gln1429=) rs1575774268
NM_001164508.2(NEB):c.4299+11G>T
NM_001164508.2(NEB):c.4299+13A>G
NM_001164508.2(NEB):c.4299+18C>T
NM_001164508.2(NEB):c.4299+4A>G rs781754253
NM_001164508.2(NEB):c.42C>T (p.Tyr14=) rs2150995013
NM_001164508.2(NEB):c.4300-10C>T rs2154190857
NM_001164508.2(NEB):c.4300-11C>T
NM_001164508.2(NEB):c.4300-12A>G
NM_001164508.2(NEB):c.4300-15C>T rs1342629658
NM_001164508.2(NEB):c.4300-18T>G
NM_001164508.2(NEB):c.4300-19T>C
NM_001164508.2(NEB):c.4300-1G>A
NM_001164508.2(NEB):c.4300-1G>C
NM_001164508.2(NEB):c.4300-2A>C rs1553512813
NM_001164508.2(NEB):c.4300-3C>T rs2154190807
NM_001164508.2(NEB):c.4300-4A>T rs762231656
NM_001164508.2(NEB):c.4300-7T>C rs1575736447
NM_001164508.2(NEB):c.4300-9C>T rs2099282016
NM_001164508.2(NEB):c.4302T>C (p.Asn1434=) rs2154190788
NM_001164508.2(NEB):c.4304T>C (p.Val1435Ala)
NM_001164508.2(NEB):c.4305G>T (p.Val1435=) rs111241479
NM_001164508.2(NEB):c.4314C>T (p.Asp1438=) rs1419373548
NM_001164508.2(NEB):c.4317G>A (p.Glu1439=)
NM_001164508.2(NEB):c.4323C>T (p.Asn1441=)
NM_001164508.2(NEB):c.4325G>T (p.Ser1442Ile)
NM_001164508.2(NEB):c.4329C>T (p.Phe1443=) rs2099280911
NM_001164508.2(NEB):c.4330T>C (p.Leu1444=)
NM_001164508.2(NEB):c.4332G>A (p.Leu1444=)
NM_001164508.2(NEB):c.4333A>T (p.Lys1445Ter)
NM_001164508.2(NEB):c.4335G>A (p.Lys1445=)
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.4338C>T (p.Gly1446=)
NM_001164508.2(NEB):c.4339A>G (p.Ile1447Val)
NM_001164508.2(NEB):c.4342G>A (p.Gly1448Arg)
NM_001164508.2(NEB):c.4347G>A (p.Trp1449Ter) rs2154190685
NM_001164508.2(NEB):c.4350C>T (p.Ile1450=) rs1218846191
NM_001164508.2(NEB):c.4354A>C (p.Ile1452Leu)
NM_001164508.2(NEB):c.4354A>G (p.Ile1452Val)
NM_001164508.2(NEB):c.4355T>C (p.Ile1452Thr)
NM_001164508.2(NEB):c.4362C>T (p.Ser1454=) rs2154190643
NM_001164508.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001164508.2(NEB):c.4377G>A (p.Lys1459=)
NM_001164508.2(NEB):c.437C>T (p.Thr146Ile)
NM_001164508.2(NEB):c.4381A>C (p.Lys1461Gln)
NM_001164508.2(NEB):c.4384A>G (p.Lys1462Glu)
NM_001164508.2(NEB):c.4389A>G (p.Ala1463=)
NM_001164508.2(NEB):c.4392C>A (p.Gly1464=)
NM_001164508.2(NEB):c.4398A>T (p.Ala1466=) rs368136951
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala) rs918736685
NM_001164508.2(NEB):c.4404T>C (p.Asn1468=)
NM_001164508.2(NEB):c.4408A>C (p.Arg1470=)
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter) rs2099279723
NM_001164508.2(NEB):c.441A>G (p.Ile147Met) rs2099785798
NM_001164508.2(NEB):c.4424A>G (p.His1475Arg) rs2154190465
NM_001164508.2(NEB):c.4432A>G (p.Thr1478Ala) rs2099279650
NM_001164508.2(NEB):c.4437C>G (p.Val1479=) rs374440932
NM_001164508.2(NEB):c.4439A>C (p.Lys1480Thr)
NM_001164508.2(NEB):c.4448G>A (p.Ser1483Asn) rs1417148362
NM_001164508.2(NEB):c.445del (p.His149fs) rs2150762300
NM_001164508.2(NEB):c.4461C>T (p.Ser1487=) rs753328294
NM_001164508.2(NEB):c.4462A>G (p.Met1488Val)
NM_001164508.2(NEB):c.4464G>A (p.Met1488Ile)
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val) rs74482326
NM_001164508.2(NEB):c.446A>G (p.His149Arg) rs2150762228
NM_001164508.2(NEB):c.4471G>T (p.Val1491Leu) rs7426114
NM_001164508.2(NEB):c.4473G>A (p.Val1491=) rs2154190350
NM_001164508.2(NEB):c.4476G>A (p.Leu1492=) rs2154190347
NM_001164508.2(NEB):c.4477G>C (p.Ala1493Pro)
NM_001164508.2(NEB):c.4485dup (p.Asn1496Ter) rs2154190331
NM_001164508.2(NEB):c.4488C>T (p.Asn1496=) rs925626079
NM_001164508.2(NEB):c.4498C>T (p.Leu1500=)
NM_001164508.2(NEB):c.4500A>G (p.Leu1500=)
NM_001164508.2(NEB):c.4506+17C>A
NM_001164508.2(NEB):c.4506+17C>G
NM_001164508.2(NEB):c.4506+18A>G
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4506+2T>C
NM_001164508.2(NEB):c.4506+4A>G
NM_001164508.2(NEB):c.4506+8C>A
NM_001164508.2(NEB):c.4507-17G>A
NM_001164508.2(NEB):c.4507-18T>C
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4507-2A>C rs1575668113
NM_001164508.2(NEB):c.4507-2A>G rs1575668113
NM_001164508.2(NEB):c.4507-3del rs767772701
NM_001164508.2(NEB):c.4507-5T>A
NM_001164508.2(NEB):c.450A>G (p.Val150=) rs2150761812
NM_001164508.2(NEB):c.4515C>A (p.Tyr1505Ter)
NM_001164508.2(NEB):c.4520T>G (p.Val1507Gly)
NM_001164508.2(NEB):c.4523A>G (p.Glu1508Gly)
NM_001164508.2(NEB):c.4526G>A (p.Gly1509Glu) rs2154185771
NM_001164508.2(NEB):c.452A>G (p.Asp151Gly)
NM_001164508.2(NEB):c.4530G>A (p.Glu1510=)
NM_001164508.2(NEB):c.4534C>T (p.Leu1512=)
NM_001164508.2(NEB):c.4535_4536del (p.Leu1512fs) rs2099254893
NM_001164508.2(NEB):c.4538_4539delinsGGGT (p.Lys1513fs)
NM_001164508.2(NEB):c.4539G>A (p.Lys1513=)
NM_001164508.2(NEB):c.4543A>T (p.Lys1515Ter)
NM_001164508.2(NEB):c.4545_4546insGTTATTT (p.Tyr1516fs)
NM_001164508.2(NEB):c.4550del (p.Thr1517fs) rs2154185730
NM_001164508.2(NEB):c.4550dup (p.Ile1518fs)
NM_001164508.2(NEB):c.4552A>G (p.Ile1518Val)
NM_001164508.2(NEB):c.4555_4556del (p.Asp1519fs)
NM_001164508.2(NEB):c.4566G>A (p.Leu1522=) rs752174970
NM_001164508.2(NEB):c.4566G>T (p.Leu1522Phe)
NM_001164508.2(NEB):c.4568C>T (p.Pro1523Leu)
NM_001164508.2(NEB):c.4572G>A (p.Gln1524=) rs766856587
NM_001164508.2(NEB):c.4573T>C (p.Phe1525Leu)
NM_001164508.2(NEB):c.4575T>C (p.Phe1525=) rs2154185657
NM_001164508.2(NEB):c.4576_4580delinsTTT (p.Ile1526fs)
NM_001164508.2(NEB):c.4583C>T (p.Ala1528Val) rs1023227996
NM_001164508.2(NEB):c.4585A>T (p.Lys1529Ter)
NM_001164508.2(NEB):c.4587A>G (p.Lys1529=)
NM_001164508.2(NEB):c.4590C>T (p.Val1530=) rs1249115083
NM_001164508.2(NEB):c.4594G>A (p.Ala1532Thr)
NM_001164508.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001164508.2(NEB):c.459A>G (p.Lys153=) rs2150761198
NM_001164508.2(NEB):c.4602C>T (p.Asn1534=)
NM_001164508.2(NEB):c.4603A>G (p.Met1535Val)
NM_001164508.2(NEB):c.4611+11G>T
NM_001164508.2(NEB):c.4611+19G>A
NM_001164508.2(NEB):c.4611+1G>A rs1233792020
NM_001164508.2(NEB):c.4611+20C>T
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=) rs2099254265
NM_001164508.2(NEB):c.4612-17C>G
NM_001164508.2(NEB):c.4612-4G>C rs2154183010
NM_001164508.2(NEB):c.4612-5dup
NM_001164508.2(NEB):c.4612-7T>C rs2154183040
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4629T>C (p.Asp1543=) rs747277690
NM_001164508.2(NEB):c.4631G>A (p.Trp1544Ter)
NM_001164508.2(NEB):c.4641C>T (p.Thr1547=)
NM_001164508.2(NEB):c.4646_4647del (p.Ala1549fs)
NM_001164508.2(NEB):c.4650G>A (p.Lys1550=) rs1180613075
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp) rs2099240158
NM_001164508.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
NM_001164508.2(NEB):c.4653C>T (p.Gly1551=)
NM_001164508.2(NEB):c.4656T>A (p.Tyr1552Ter)
NM_001164508.2(NEB):c.4661T>A (p.Leu1554Ter)
NM_001164508.2(NEB):c.4662G>C (p.Leu1554Phe)
NM_001164508.2(NEB):c.4671T>C (p.Asp1557=)
NM_001164508.2(NEB):c.4677C>T (p.Ile1559=)
NM_001164508.2(NEB):c.4680A>G (p.Pro1560=)
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
NM_001164508.2(NEB):c.4685T>C (p.Val1562Ala)
NM_001164508.2(NEB):c.4686T>C (p.Val1562=) rs2154182813
NM_001164508.2(NEB):c.4694A>C (p.Lys1565Thr)
NM_001164508.2(NEB):c.4703G>A (p.Arg1568Lys)
NM_001164508.2(NEB):c.4707T>C (p.Asn1569=) rs2154182790
NM_001164508.2(NEB):c.4719+18G>A
NM_001164508.2(NEB):c.4719+19T>C
NM_001164508.2(NEB):c.4719+1G>A
NM_001164508.2(NEB):c.4719+2T>A
NM_001164508.2(NEB):c.4719+2T>C rs1553501889
NM_001164508.2(NEB):c.4719+8T>C
NM_001164508.2(NEB):c.471T>C (p.Ile157=) rs1269882058
NM_001164508.2(NEB):c.4720-12G>C
NM_001164508.2(NEB):c.4720-17C>T rs2154179318
NM_001164508.2(NEB):c.4720-4A>T rs753231552
NM_001164508.2(NEB):c.4720-6A>T rs756852826
NM_001164508.2(NEB):c.4722C>T (p.Cys1574=)
NM_001164508.2(NEB):c.4725A>C (p.Lys1575Asn)
NM_001164508.2(NEB):c.4725dup (p.Tyr1576fs)
NM_001164508.2(NEB):c.4729_4730insT (p.Lys1577fs)
NM_001164508.2(NEB):c.4734G>A (p.Glu1578=) rs2154179248
NM_001164508.2(NEB):c.4735G>A (p.Ala1579Thr)
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val) rs751602407
NM_001164508.2(NEB):c.4738T>C (p.Tyr1580His) rs2154179233
NM_001164508.2(NEB):c.4740C>A (p.Tyr1580Ter) rs766168868
NM_001164508.2(NEB):c.4751_4752del (p.Lys1584fs)
NM_001164508.2(NEB):c.4761A>G (p.Gln1587=)
NM_001164508.2(NEB):c.4764T>C (p.Val1588=) rs2154179192
NM_001164508.2(NEB):c.4765G>T (p.Gly1589Ter)
NM_001164508.2(NEB):c.476A>G (p.His159Arg)
NM_001164508.2(NEB):c.4773C>G (p.Leu1591=) rs768945047
NM_001164508.2(NEB):c.4773C>T (p.Leu1591=) rs768945047
NM_001164508.2(NEB):c.4775G>C (p.Ser1592Thr)
NM_001164508.2(NEB):c.4776T>C (p.Ser1592=)
NM_001164508.2(NEB):c.477T>C (p.His159=) rs2099785711
NM_001164508.2(NEB):c.47A>G (p.Glu16Gly)
NM_001164508.2(NEB):c.47AAG[1] (p.Glu17del) rs760256873
NM_001164508.2(NEB):c.4802A>G (p.His1601Arg)
NM_001164508.2(NEB):c.4806C>T (p.Tyr1602=) rs2154179146
NM_001164508.2(NEB):c.4807A>G (p.Met1603Val)
NM_001164508.2(NEB):c.480A>G (p.Ala160=)
NM_001164508.2(NEB):c.4812T>C (p.Asn1604=)
NM_001164508.2(NEB):c.4819A>G (p.Lys1607Glu)
NM_001164508.2(NEB):c.481A>G (p.Lys161Glu) rs1440684786
NM_001164508.2(NEB):c.4828T>C (p.Ser1610Pro)
NM_001164508.2(NEB):c.4833T>C (p.Asp1611=) rs1413754733
NM_001164508.2(NEB):c.4834C>A (p.Arg1612Ser) rs200545007
NM_001164508.2(NEB):c.4835G>C (p.Arg1612Pro)
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter) rs2154179061
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu) rs1237432906
NM_001164508.2(NEB):c.4843A>T (p.Lys1615Ter) rs1237432906
NM_001164508.2(NEB):c.4847A>G (p.Lys1616Arg)
NM_001164508.2(NEB):c.4848G>A (p.Lys1616=) rs958645221
NM_001164508.2(NEB):c.4850G>A (p.Gly1617Asp)
NM_001164508.2(NEB):c.4851C>T (p.Gly1617=)
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys) rs759773612
NM_001164508.2(NEB):c.4854T>C (p.Tyr1618=) rs2154179019
NM_001164508.2(NEB):c.4857A>G (p.Glu1619=) rs1313191028
NM_001164508.2(NEB):c.4868C>G (p.Thr1623Ser)
NM_001164508.2(NEB):c.4878C>T (p.His1626=) rs774544008
NM_001164508.2(NEB):c.4880C>T (p.Thr1627Ile) rs1651215974
NM_001164508.2(NEB):c.4884T>A (p.Pro1628=)
NM_001164508.2(NEB):c.4884T>G (p.Pro1628=) rs1041760075
NM_001164508.2(NEB):c.4899_4903del (p.Val1634fs)
NM_001164508.2(NEB):c.489G>A (p.Val163=) rs2150759969
NM_001164508.2(NEB):c.4908T>C (p.Ala1636=) rs747601206
NM_001164508.2(NEB):c.4908_4912del (p.Ala1637fs)
NM_001164508.2(NEB):c.4916_4917insG (p.Ser1640fs)
NM_001164508.2(NEB):c.4922_4928del (p.Gln1641fs)
NM_001164508.2(NEB):c.4924del (p.Glu1642fs)
NM_001164508.2(NEB):c.4926G>A (p.Glu1642=) rs2154178922
NM_001164508.2(NEB):c.4929T>A (p.Val1643=) rs2154178905
NM_001164508.2(NEB):c.492G>T (p.Ser164=) rs371015050
NM_001164508.2(NEB):c.4932C>A (p.Ala1644=) rs2154178892
NM_001164508.2(NEB):c.4932C>T (p.Ala1644=)
NM_001164508.2(NEB):c.4933A>G (p.Thr1645Ala)
NM_001164508.2(NEB):c.4934C>A (p.Thr1645Asn)
NM_001164508.2(NEB):c.4935C>T (p.Thr1645=) rs2154178884
NM_001164508.2(NEB):c.4937A>G (p.Asn1646Ser)
NM_001164508.2(NEB):c.4938C>A (p.Asn1646Lys)
NM_001164508.2(NEB):c.493C>T (p.Gln165Ter) rs2099785680
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.4956A>C (p.Ser1652=)
NM_001164508.2(NEB):c.4960C>A (p.His1654Asn) rs2154178833
NM_001164508.2(NEB):c.4962C>T (p.His1654=) rs759709375
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg) rs2099214775
NM_001164508.2(NEB):c.4965C>T (p.His1655=) rs1575591786
NM_001164508.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001164508.2(NEB):c.4970C>G (p.Thr1657Ser)
NM_001164508.2(NEB):c.4972C>T (p.Leu1658Phe)
NM_001164508.2(NEB):c.4973T>A (p.Leu1658His)
NM_001164508.2(NEB):c.4975C>T (p.Leu1659=)
NM_001164508.2(NEB):c.4977G>A (p.Leu1659=)
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
NM_001164508.2(NEB):c.4980C>G (p.Pro1660=) rs142074817
NM_001164508.2(NEB):c.4981G>A (p.Asp1661Asn)
NM_001164508.2(NEB):c.4982A>C (p.Asp1661Ala)
NM_001164508.2(NEB):c.4985C>A (p.Ala1662Asp) rs2154178777
NM_001164508.2(NEB):c.4987T>A (p.Leu1663Met) rs2154178771
NM_001164508.2(NEB):c.498A>G (p.Gln166=)
NM_001164508.2(NEB):c.498_507+18del
NM_001164508.2(NEB):c.4998G>A (p.Glu1666=)
NM_001164508.2(NEB):c.4999del (p.His1667fs)
NM_001164508.2(NEB):c.499G>C (p.Val167Leu)
NM_001164508.2(NEB):c.5004C>T (p.Ser1668=)
NM_001164508.2(NEB):c.5013C>A (p.Ala1671=) rs745620924
NM_001164508.2(NEB):c.5013C>G (p.Ala1671=)
NM_001164508.2(NEB):c.5013C>T (p.Ala1671=) rs745620924
NM_001164508.2(NEB):c.501C>T (p.Val167=)
NM_001164508.2(NEB):c.5023C>T (p.Gln1675Ter)
NM_001164508.2(NEB):c.5024A>G (p.Gln1675Arg) rs2099214265
NM_001164508.2(NEB):c.5029G>A (p.Asp1677Asn) rs778722719
NM_001164508.2(NEB):c.502A>G (p.Ser168Gly)
NM_001164508.2(NEB):c.5030A>G (p.Asp1677Gly)
NM_001164508.2(NEB):c.5031+11G>C
NM_001164508.2(NEB):c.5031+11G>T
NM_001164508.2(NEB):c.5031+15C>T
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164508.2(NEB):c.5031+20T>C
NM_001164508.2(NEB):c.5031+2T>C rs2154178700
NM_001164508.2(NEB):c.5031+8C>G rs2154178671
NM_001164508.2(NEB):c.5031+8C>T rs2154178671
NM_001164508.2(NEB):c.5032-13del rs148862132
NM_001164508.2(NEB):c.5032-13dup rs148862132
NM_001164508.2(NEB):c.5032-16T>C
NM_001164508.2(NEB):c.5032-19T>A rs2154177473
NM_001164508.2(NEB):c.5032-9A>T
NM_001164508.2(NEB):c.5034T>C (p.Asn1678=) rs2099204137
NM_001164508.2(NEB):c.5037G>A (p.Leu1679=) rs778634159
NM_001164508.2(NEB):c.5037G>C (p.Leu1679=) rs778634159
NM_001164508.2(NEB):c.5039_5044del (p.Tyr1680_Lys1681del) rs1300563797
NM_001164508.2(NEB):c.5049C>T (p.Asp1683=) rs777670525
NM_001164508.2(NEB):c.504T>C (p.Ser168=)
NM_001164508.2(NEB):c.5055C>A (p.Thr1685=) rs1575578013
NM_001164508.2(NEB):c.5058T>C (p.Asn1686=) rs374877131
NM_001164508.2(NEB):c.507+11G>T
NM_001164508.2(NEB):c.507+15T>C
NM_001164508.2(NEB):c.507+18A>T
NM_001164508.2(NEB):c.507+1G>A rs1553689057
NM_001164508.2(NEB):c.507+2T>C
NM_001164508.2(NEB):c.507+8A>G rs2150758525
NM_001164508.2(NEB):c.5070G>T (p.Gly1690=)
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser) rs764638678
NM_001164508.2(NEB):c.508-10T>C rs1577888620
NM_001164508.2(NEB):c.508-10T>G rs1577888620
NM_001164508.2(NEB):c.508-19C>T
NM_001164508.2(NEB):c.508-1G>A
NM_001164508.2(NEB):c.508-4C>T rs2099784169
NM_001164508.2(NEB):c.508-5T>C rs760986524
NM_001164508.2(NEB):c.508-6G>A rs374227241
NM_001164508.2(NEB):c.508-6G>T rs374227241
NM_001164508.2(NEB):c.5085C>T (p.Pro1695=) rs2154177282
NM_001164508.2(NEB):c.5086A>G (p.Ile1696Val)
NM_001164508.2(NEB):c.5088A>C (p.Ile1696=) rs2154177269
NM_001164508.2(NEB):c.5091G>A (p.Glu1697=) rs1349969572
NM_001164508.2(NEB):c.5094C>G (p.Ser1698=)
NM_001164508.2(NEB):c.5094C>T (p.Ser1698=) rs2154177256
NM_001164508.2(NEB):c.5100G>A (p.Glu1700=) rs2099203382
NM_001164508.2(NEB):c.5104G>A (p.Glu1702Lys)
NM_001164508.2(NEB):c.5109G>A (p.Lys1703=)
NM_001164508.2(NEB):c.5115G>A (p.Lys1705=) rs2154177219
NM_001164508.2(NEB):c.5118A>G (p.Lys1706=) rs2154177215
NM_001164508.2(NEB):c.5120C>A (p.Ala1707Glu) rs1575576650
NM_001164508.2(NEB):c.5132T>C (p.Leu1711Pro) rs2099203051
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
NM_001164508.2(NEB):c.513A>G (p.Leu171=) rs2150733016
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del) rs1553492424
NM_001164508.2(NEB):c.5150G>A (p.Arg1717His)
NM_001164508.2(NEB):c.5150G>T (p.Arg1717Leu) rs747091795
NM_001164508.2(NEB):c.5151C>A (p.Arg1717=)
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001164508.2(NEB):c.5160C>A (p.Pro1720=) rs377168964
NM_001164508.2(NEB):c.5160C>G (p.Pro1720=) rs377168964
NM_001164508.2(NEB):c.5164A>T (p.Lys1722Ter)
NM_001164508.2(NEB):c.5170A>T (p.Lys1724Ter)
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001164508.2(NEB):c.5185A>G (p.Met1729Val)
NM_001164508.2(NEB):c.5186T>C (p.Met1729Thr)
NM_001164508.2(NEB):c.5191dup (p.Thr1731fs)
NM_001164508.2(NEB):c.519G>A (p.Lys173=) rs2150732937
NM_001164508.2(NEB):c.5202G>A (p.Gln1734=) rs2099202370
NM_001164508.2(NEB):c.5211C>T (p.Asn1737=)
NM_001164508.2(NEB):c.5211_5213del (p.Asn1737del) rs1553491789
NM_001164508.2(NEB):c.5214G>A (p.Lys1738=)
NM_001164508.2(NEB):c.5217T>C (p.Ser1739=) rs1159799605
NM_001164508.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001164508.2(NEB):c.5225_5226del (p.Leu1742fs) rs2154176983
NM_001164508.2(NEB):c.5229dup (p.Met1744fs) rs2154176971
NM_001164508.2(NEB):c.5236A>T (p.Lys1746Ter)
NM_001164508.2(NEB):c.5238+11A>T
NM_001164508.2(NEB):c.5238+15G>A
NM_001164508.2(NEB):c.5238+19G>A
NM_001164508.2(NEB):c.5239-15A>C
NM_001164508.2(NEB):c.5239-18del
NM_001164508.2(NEB):c.5239-1G>A
NM_001164508.2(NEB):c.5239-20A>C
NM_001164508.2(NEB):c.5239-20A>G
NM_001164508.2(NEB):c.5239-4G>T
NM_001164508.2(NEB):c.5239-8C>T rs762635901
NM_001164508.2(NEB):c.5239A>G (p.Arg1747Gly) rs1272476034
NM_001164508.2(NEB):c.5244C>G (p.Leu1748=) rs2099191461
NM_001164508.2(NEB):c.5245_5254del (p.Tyr1749fs) rs2099191297
NM_001164508.2(NEB):c.5250T>A (p.Thr1750=) rs551804427
NM_001164508.2(NEB):c.5256A>G (p.Lys1752=)
NM_001164508.2(NEB):c.5257T>C (p.Trp1753Arg)
NM_001164508.2(NEB):c.5258G>A (p.Trp1753Ter) rs776635100
NM_001164508.2(NEB):c.5261A>G (p.Asn1754Ser)
NM_001164508.2(NEB):c.5262C>A (p.Asn1754Lys)
NM_001164508.2(NEB):c.5264A>T (p.Lys1755Met)
NM_001164508.2(NEB):c.5269A>T (p.Lys1757Ter)
NM_001164508.2(NEB):c.5274C>T (p.Thr1758=)
NM_001164508.2(NEB):c.5276C>T (p.Thr1759Ile)
NM_001164508.2(NEB):c.5279T>G (p.Ile1760Ser)
NM_001164508.2(NEB):c.527G>A (p.Trp176Ter)
NM_001164508.2(NEB):c.5286C>T (p.Val1762=)
NM_001164508.2(NEB):c.5291C>T (p.Pro1764Leu)
NM_001164508.2(NEB):c.5298A>G (p.Thr1766=)
NM_001164508.2(NEB):c.529G>A (p.Glu177Lys) rs1403433350
NM_001164508.2(NEB):c.52G>C (p.Val18Leu) rs2150994592
NM_001164508.2(NEB):c.5303A>C (p.Asp1768Ala)
NM_001164508.2(NEB):c.5304T>A (p.Asp1768Glu)
NM_001164508.2(NEB):c.5304T>C (p.Asp1768=) rs1417460673
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter) rs2154175437
NM_001164508.2(NEB):c.5311C>T (p.Leu1771Phe)
NM_001164508.2(NEB):c.5313C>T (p.Leu1771=) rs2154175432
NM_001164508.2(NEB):c.531A>G (p.Glu177=) rs2099784144
NM_001164508.2(NEB):c.5322A>G (p.Val1774=)
NM_001164508.2(NEB):c.5328A>G (p.Gln1776=)
NM_001164508.2(NEB):c.5329A>G (p.Ile1777Val)
NM_001164508.2(NEB):c.5332A>T (p.Thr1778Ser) rs2099190635
NM_001164508.2(NEB):c.5335A>T (p.Met1779Leu) rs962698882
NM_001164508.2(NEB):c.5337G>A (p.Met1779Ile)
NM_001164508.2(NEB):c.5343+14C>A
NM_001164508.2(NEB):c.5343+15A>G
NM_001164508.2(NEB):c.5343+17C>A
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.5344-13T>C
NM_001164508.2(NEB):c.5344-15T>C
NM_001164508.2(NEB):c.5344-16C>T
NM_001164508.2(NEB):c.5344-1G>A rs1197561990
NM_001164508.2(NEB):c.5344-22_5344-20del
NM_001164508.2(NEB):c.5344-4T>G
NM_001164508.2(NEB):c.5344-8T>C rs763115844
NM_001164508.2(NEB):c.5345A>C (p.Lys1782Thr)
NM_001164508.2(NEB):c.5346del (p.Lys1782fs) rs2154174916
NM_001164508.2(NEB):c.5348T>C (p.Leu1783Pro)
NM_001164508.2(NEB):c.5349G>A (p.Leu1783=)
NM_001164508.2(NEB):c.5349G>C (p.Leu1783=)
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter) rs201636991
NM_001164508.2(NEB):c.5365G>A (p.Glu1789Lys) rs774196513
NM_001164508.2(NEB):c.5376G>A (p.Lys1792=) rs886038453
NM_001164508.2(NEB):c.5385A>T (p.Gly1795=)
NM_001164508.2(NEB):c.5388T>A (p.Tyr1796Ter) rs2099187757
NM_001164508.2(NEB):c.5391C>T (p.Asp1797=) rs757909014
NM_001164508.2(NEB):c.5392C>T (p.Leu1798=) rs925615143
NM_001164508.2(NEB):c.5395A>C (p.Arg1799=) rs2099187669
NM_001164508.2(NEB):c.5398C>T (p.Pro1800Ser)
NM_001164508.2(NEB):c.5403T>G (p.Asp1801Glu)
NM_001164508.2(NEB):c.5405C>A (p.Ala1802Asp)
NM_001164508.2(NEB):c.540G>A (p.Lys180=)
NM_001164508.2(NEB):c.5418G>A (p.Lys1806=) rs2154174722
NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser) rs374677022
NM_001164508.2(NEB):c.5420C>G (p.Ala1807Gly) rs373790988
NM_001164508.2(NEB):c.5424A>C (p.Ala1808=)
NM_001164508.2(NEB):c.5427A>G (p.Arg1809=) rs2154174695
NM_001164508.2(NEB):c.5432C>G (p.Ser1811Cys)
NM_001164508.2(NEB):c.5434A>T (p.Arg1812Ter)
NM_001164508.2(NEB):c.5436A>C (p.Arg1812Ser)
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn) rs2099187269
NM_001164508.2(NEB):c.5439C>T (p.Asp1813=)
NM_001164508.2(NEB):c.5440_5441del (p.Ile1814fs)
NM_001164508.2(NEB):c.5440_5449dup (p.Tyr1818delinsCysGlnTer)
NM_001164508.2(NEB):c.5444C>G (p.Ala1815Gly) rs767491081
NM_001164508.2(NEB):c.5451+11G>C
NM_001164508.2(NEB):c.5451+11G>T
NM_001164508.2(NEB):c.5451+13A>G
NM_001164508.2(NEB):c.5451+14C>T
NM_001164508.2(NEB):c.5451+15T>G
NM_001164508.2(NEB):c.5451+1G>T
NM_001164508.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001164508.2(NEB):c.5451T>C (p.Asp1817=)
NM_001164508.2(NEB):c.5452-10C>G rs755973658
NM_001164508.2(NEB):c.5452-13T>A
NM_001164508.2(NEB):c.5452-14T>C
NM_001164508.2(NEB):c.5452-1G>A rs2154172894
NM_001164508.2(NEB):c.5452-2A>G rs1057517317
NM_001164508.2(NEB):c.5458_5459del (p.Tyr1820fs) rs2154172885
NM_001164508.2(NEB):c.5462A>C (p.Lys1821Thr)
NM_001164508.2(NEB):c.5467G>T (p.Ala1823Ser) rs2099173290
NM_001164508.2(NEB):c.546G>A (p.Lys182=) rs2150731866
NM_001164508.2(NEB):c.5472T>C (p.Tyr1824=) rs1558984290
NM_001164508.2(NEB):c.5475A>G (p.Glu1825=) rs2154172851
NM_001164508.2(NEB):c.5478A>G (p.Gln1826=) rs754914675
NM_001164508.2(NEB):c.5481C>T (p.Ala1827=)
NM_001164508.2(NEB):c.5493C>T (p.His1831=)
NM_001164508.2(NEB):c.5493_5494del (p.Ile1832fs) rs2154172818
NM_001164508.2(NEB):c.5499C>T (p.Gly1833=) rs2154172803
NM_001164508.2(NEB):c.54G>C (p.Val18=) rs1008378873
NM_001164508.2(NEB):c.54G>T (p.Val18=)
NM_001164508.2(NEB):c.54_56dup (p.Val19dup) rs1553702754
NM_001164508.2(NEB):c.5504G>A (p.Arg1835Gln)
NM_001164508.2(NEB):c.5506A>G (p.Ser1836Gly)
NM_001164508.2(NEB):c.5508C>G (p.Ser1836Arg)
NM_001164508.2(NEB):c.5511G>A (p.Leu1837=)
NM_001164508.2(NEB):c.5513A>C (p.Glu1838Ala)
NM_001164508.2(NEB):c.5515G>A (p.Asp1839Asn) rs2099172820
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs) rs2154172729
NM_001164508.2(NEB):c.5525A>G (p.Lys1842Arg) rs2099172694
NM_001164508.2(NEB):c.552G>A (p.Leu184=) rs749789516
NM_001164508.2(NEB):c.5532G>A (p.Val1844=)
NM_001164508.2(NEB):c.5535C>G (p.His1845Gln)
NM_001164508.2(NEB):c.5538C>T (p.Phe1846=)
NM_001164508.2(NEB):c.5544A>G (p.Gln1848=)
NM_001164508.2(NEB):c.5547G>T (p.Val1849=)
NM_001164508.2(NEB):c.5555T>C (p.Met1852Thr) rs144180493
NM_001164508.2(NEB):c.5557C>T (p.Gln1853Ter) rs2154172676
NM_001164508.2(NEB):c.5558A>C (p.Gln1853Pro) rs748760784
NM_001164508.2(NEB):c.555T>G (p.Leu185=)
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001164508.2(NEB):c.5565C>T (p.Asp1855=) rs200468391
NM_001164508.2(NEB):c.5574C>T (p.Tyr1858=) rs781185019
NM_001164508.2(NEB):c.5587G>A (p.Glu1863Lys)
NM_001164508.2(NEB):c.5587G>T (p.Glu1863Ter) rs1375183081
NM_001164508.2(NEB):c.558T>C (p.Pro186=) rs2150731543
NM_001164508.2(NEB):c.5595C>T (p.Ser1865=) rs1553485337
NM_001164508.2(NEB):c.5595dup (p.Lys1866fs) rs2154172582
NM_001164508.2(NEB):c.5596A>G (p.Lys1866Glu)
NM_001164508.2(NEB):c.5600C>T (p.Thr1867Ile)
NM_001164508.2(NEB):c.5601C>G (p.Thr1867=) rs2154172565
NM_001164508.2(NEB):c.5601C>T (p.Thr1867=) rs2154172565
NM_001164508.2(NEB):c.5604C>T (p.Ser1868=) rs1383368666
NM_001164508.2(NEB):c.5610C>T (p.His1870=) rs2154172552
NM_001164508.2(NEB):c.5612C>A (p.Thr1871Asn) rs753865894
NM_001164508.2(NEB):c.5613C>G (p.Thr1871=)
NM_001164508.2(NEB):c.5613C>T (p.Thr1871=) rs1363506031
NM_001164508.2(NEB):c.5614C>G (p.Pro1872Ala)
NM_001164508.2(NEB):c.5615C>T (p.Pro1872Leu)
NM_001164508.2(NEB):c.5619G>A (p.Val1873=)
NM_001164508.2(NEB):c.561T>C (p.Pro187=)
NM_001164508.2(NEB):c.5622C>T (p.Asp1874=)
NM_001164508.2(NEB):c.5626C>T (p.Leu1876Phe)
NM_001164508.2(NEB):c.5628C>G (p.Leu1876=) rs771407375
NM_001164508.2(NEB):c.5628C>T (p.Leu1876=) rs771407375
NM_001164508.2(NEB):c.5630G>T (p.Ser1877Ile)
NM_001164508.2(NEB):c.5631T>C (p.Ser1877=)
NM_001164508.2(NEB):c.5634G>A (p.Val1878=) rs2154172468
NM_001164508.2(NEB):c.5637G>A (p.Val1879=) rs1558980163
NM_001164508.2(NEB):c.5641_5642delinsAG (p.Ala1881Ser) rs2154172447
NM_001164508.2(NEB):c.5655G>A (p.Gln1885=)
NM_001164508.2(NEB):c.5658A>G (p.Glu1886=)
NM_001164508.2(NEB):c.5664C>A (p.Ala1888=) rs367607601
NM_001164508.2(NEB):c.5664C>T (p.Ala1888=)
NM_001164508.2(NEB):c.5664del (p.Thr1889fs)
NM_001164508.2(NEB):c.5667C>T (p.Thr1889=) rs1005978671
NM_001164508.2(NEB):c.5669A>T (p.Asn1890Ile)
NM_001164508.2(NEB):c.5670T>C (p.Asn1890=)
NM_001164508.2(NEB):c.5678A>G (p.Tyr1893Cys)
NM_001164508.2(NEB):c.5679C>T (p.Tyr1893=)
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5680A>T (p.Arg1894Trp)
NM_001164508.2(NEB):c.5683A>C (p.Asn1895His)
NM_001164508.2(NEB):c.5696C>A (p.Thr1899Asn) rs202234374
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5699A>T (p.Tyr1900Phe)
NM_001164508.2(NEB):c.5700C>T (p.Tyr1900=)
NM_001164508.2(NEB):c.5717C>T (p.Ala1906Val) rs2099170735
NM_001164508.2(NEB):c.5718C>G (p.Ala1906=)
NM_001164508.2(NEB):c.5719A>G (p.Met1907Val)
NM_001164508.2(NEB):c.5720T>G (p.Met1907Arg)
NM_001164508.2(NEB):c.5721G>A (p.Met1907Ile)
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.5731T>C (p.Leu1911=) rs1575521586
NM_001164508.2(NEB):c.5742T>C (p.Asn1914=)
NM_001164508.2(NEB):c.5743A>G (p.Met1915Val)
NM_001164508.2(NEB):c.5751G>C (p.Gln1917His)
NM_001164508.2(NEB):c.5754T>G (p.Ile1918Met)
NM_001164508.2(NEB):c.5763+12C>T
NM_001164508.2(NEB):c.5763+14A>G
NM_001164508.2(NEB):c.5763+19T>C
NM_001164508.2(NEB):c.5763+1G>A rs2154172204
NM_001164508.2(NEB):c.5763+7G>A
NM_001164508.2(NEB):c.5764-11C>T
NM_001164508.2(NEB):c.5764-12C>T
NM_001164508.2(NEB):c.5764-19A>G
NM_001164508.2(NEB):c.5764-2A>G
NM_001164508.2(NEB):c.5764-6T>C
NM_001164508.2(NEB):c.5764-9C>T rs1210833671
NM_001164508.2(NEB):c.5767C>G (p.Gln1923Glu) rs2154169026
NM_001164508.2(NEB):c.5771A>C (p.Tyr1924Ser)
NM_001164508.2(NEB):c.5771A>G (p.Tyr1924Cys) rs747326135
NM_001164508.2(NEB):c.5783A>C (p.Tyr1928Ser)
NM_001164508.2(NEB):c.5784T>C (p.Tyr1928=) rs1575485832
NM_001164508.2(NEB):c.5787T>C (p.Ala1929=) rs2154168960
NM_001164508.2(NEB):c.57T>A (p.Val19=)
NM_001164508.2(NEB):c.5805T>C (p.Ile1935=)
NM_001164508.2(NEB):c.5806G>A (p.Gly1936Arg) rs997951612
NM_001164508.2(NEB):c.5807G>A (p.Gly1936Glu)
NM_001164508.2(NEB):c.5808A>G (p.Gly1936=)
NM_001164508.2(NEB):c.5808A>T (p.Gly1936=) rs759345767
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu) rs1486289467
NM_001164508.2(NEB):c.5818C>A (p.Leu1940Met)
NM_001164508.2(NEB):c.5819T>C (p.Leu1940Pro)
NM_001164508.2(NEB):c.5824T>A (p.Ser1942Thr) rs2154168846
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln) rs531692437
NM_001164508.2(NEB):c.5836G>A (p.Glu1946Lys)
NM_001164508.2(NEB):c.5839A>T (p.Lys1947Ter)
NM_001164508.2(NEB):c.5841A>G (p.Lys1947=) rs1304489001
NM_001164508.2(NEB):c.5843A>T (p.Asn1948Ile) rs2154168814
NM_001164508.2(NEB):c.5844C>T (p.Asn1948=)
NM_001164508.2(NEB):c.5850A>C (p.Lys1950Asn)
NM_001164508.2(NEB):c.5853C>G (p.Ala1951=) rs757546480
NM_001164508.2(NEB):c.585C>G (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.585C>T (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.5864T>C (p.Ile1955Thr)
NM_001164508.2(NEB):c.5874G>A (p.Lys1958=)
NM_001164508.2(NEB):c.5876A>C (p.Lys1959Thr)
NM_001164508.2(NEB):c.5881C>T (p.Arg1961Cys)
NM_001164508.2(NEB):c.5886G>A (p.Gln1962=)
NM_001164508.2(NEB):c.5887C>T (p.His1963Tyr)
NM_001164508.2(NEB):c.5889C>T (p.His1963=) rs2154168716
NM_001164508.2(NEB):c.5895C>A (p.Asp1965Glu)
NM_001164508.2(NEB):c.5913A>G (p.Thr1971=)
NM_001164508.2(NEB):c.5922C>T (p.Asp1974=) rs1458776067
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
NM_001164508.2(NEB):c.5935G>A (p.Val1979Ile)
NM_001164508.2(NEB):c.5935G>C (p.Val1979Leu) rs771329756
NM_001164508.2(NEB):c.5936T>C (p.Val1979Ala) rs749553879
NM_001164508.2(NEB):c.5940G>A (p.Leu1980=)
NM_001164508.2(NEB):c.5943C>T (p.Ala1981=) rs756535708
NM_001164508.2(NEB):c.5945A>C (p.Gln1982Pro) rs1212716508
NM_001164508.2(NEB):c.5959dup (p.Ile1987fs) rs2154168541
NM_001164508.2(NEB):c.5970+15A>G
NM_001164508.2(NEB):c.5970+20A>G
NM_001164508.2(NEB):c.5970+7C>G rs975930519
NM_001164508.2(NEB):c.5970+9T>G rs2154168501
NM_001164508.2(NEB):c.5971-11T>C
NM_001164508.2(NEB):c.5971-12T>C
NM_001164508.2(NEB):c.5971-13G>T rs2154157996
NM_001164508.2(NEB):c.5971-4del rs2154157926
NM_001164508.2(NEB):c.5971-6T>C rs2099118743
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001164508.2(NEB):c.5971-9T>C rs528962426
NM_001164508.2(NEB):c.5971-9T>G rs528962426
NM_001164508.2(NEB):c.5973T>A (p.His1991Gln)
NM_001164508.2(NEB):c.5976C>T (p.Leu1992=) rs1433412595
NM_001164508.2(NEB):c.5977dup (p.Tyr1993fs) rs2099118606
NM_001164508.2(NEB):c.5983C>T (p.Gln1995Ter)
NM_001164508.2(NEB):c.5985A>G (p.Gln1995=) rs2099118542
NM_001164508.2(NEB):c.5986G>A (p.Ala1996Thr)
NM_001164508.2(NEB):c.5986G>C (p.Ala1996Pro)
NM_001164508.2(NEB):c.5987C>A (p.Ala1996Glu)
NM_001164508.2(NEB):c.5988A>G (p.Ala1996=) rs1255321304
NM_001164508.2(NEB):c.598G>A (p.Ala200Thr)
NM_001164508.2(NEB):c.5991_5992del (p.Trp1997_Glu1998delinsTer)
NM_001164508.2(NEB):c.5992G>C (p.Glu1998Gln)
NM_001164508.2(NEB):c.5996C>T (p.Ala1999Val)
NM_001164508.2(NEB):c.6000C>T (p.Asp2000=)
NM_001164508.2(NEB):c.6013_6015delinsT (p.His2005fs)
NM_001164508.2(NEB):c.6018C>T (p.Ile2006=)
NM_001164508.2(NEB):c.6025G>C (p.Asp2009His)
NM_001164508.2(NEB):c.6030C>A (p.Ile2010=) rs2154157760
NM_001164508.2(NEB):c.6031C>T (p.Pro2011Ser)
NM_001164508.2(NEB):c.6032C>T (p.Pro2011Leu) rs2099118243
NM_001164508.2(NEB):c.6035A>G (p.Gln2012Arg) rs2154157733
NM_001164508.2(NEB):c.6036G>A (p.Gln2012=)
NM_001164508.2(NEB):c.6036G>T (p.Gln2012His)
NM_001164508.2(NEB):c.6045_6048del (p.Ala2016fs)
NM_001164508.2(NEB):c.6046G>C (p.Ala2016Pro) rs1558927613
NM_001164508.2(NEB):c.6051G>A (p.Lys2017=)
NM_001164508.2(NEB):c.6052G>A (p.Ala2018Thr)
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys) rs1553687045
NM_001164508.2(NEB):c.6067_6068del (p.Met2023fs)
NM_001164508.2(NEB):c.606C>T (p.Phe202=) rs1426246334
NM_001164508.2(NEB):c.6075+13C>A
NM_001164508.2(NEB):c.6075+13C>T
NM_001164508.2(NEB):c.6075+14C>T
NM_001164508.2(NEB):c.6075+1G>A rs1553472127
NM_001164508.2(NEB):c.6075+2T>G rs2154157623
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6075+8T>C
NM_001164508.2(NEB):c.6076-10C>G
NM_001164508.2(NEB):c.6076-12C>T
NM_001164508.2(NEB):c.6076-14G>T
NM_001164508.2(NEB):c.6076-20C>T
NM_001164508.2(NEB):c.6076-2A>C rs1553469514
NM_001164508.2(NEB):c.6076-2A>G rs1553469514
NM_001164508.2(NEB):c.6076-4A>G rs2154154252
NM_001164508.2(NEB):c.6077A>G (p.Lys2026Arg)
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.6080T>A (p.Leu2027His)
NM_001164508.2(NEB):c.6081C>G (p.Leu2027=) rs2154154209
NM_001164508.2(NEB):c.6084C>T (p.Tyr2028=)
NM_001164508.2(NEB):c.6085A>C (p.Lys2029Gln) rs1387009037
NM_001164508.2(NEB):c.6086A>T (p.Lys2029Ile) rs747575539
NM_001164508.2(NEB):c.6087A>G (p.Lys2029=) rs2154154183
NM_001164508.2(NEB):c.6091T>A (p.Ser2031Thr)
NM_001164508.2(NEB):c.6093C>T (p.Ser2031=) rs777443511
NM_001164508.2(NEB):c.6094T>C (p.Leu2032=)
NM_001164508.2(NEB):c.6103dup (p.Ser2035fs) rs2154154153
NM_001164508.2(NEB):c.6112_6115del (p.Lys2038fs) rs1575358650
NM_001164508.2(NEB):c.6115G>A (p.Gly2039Ser)
NM_001164508.2(NEB):c.611del (p.Lys204fs) rs2150729369
NM_001164508.2(NEB):c.612+11G>T
NM_001164508.2(NEB):c.612+14C>T
NM_001164508.2(NEB):c.612+1G>A rs1202331107
NM_001164508.2(NEB):c.612+20C>G
NM_001164508.2(NEB):c.6120T>C (p.Tyr2040=)
NM_001164508.2(NEB):c.6126C>G (p.Leu2042=) rs1365332181
NM_001164508.2(NEB):c.6127A>G (p.Arg2043Gly) rs1321911647
NM_001164508.2(NEB):c.613-14C>G
NM_001164508.2(NEB):c.613-14C>T
NM_001164508.2(NEB):c.613-15T>A
NM_001164508.2(NEB):c.613-16C>T
NM_001164508.2(NEB):c.613-19T>C
NM_001164508.2(NEB):c.613-1G>A rs767693366
NM_001164508.2(NEB):c.613-1G>C rs767693366
NM_001164508.2(NEB):c.613-2A>G rs752893483
NM_001164508.2(NEB):c.613-7G>A
NM_001164508.2(NEB):c.613-8dup rs757844100
NM_001164508.2(NEB):c.6138A>G (p.Ala2046=) rs1394304728
NM_001164508.2(NEB):c.6142C>A (p.Pro2048Thr)
NM_001164508.2(NEB):c.6143C>T (p.Pro2048Leu)
NM_001164508.2(NEB):c.6155C>A (p.Ala2052Asp)
NM_001164508.2(NEB):c.6160G>T (p.Ala2054Ser)
NM_001164508.2(NEB):c.6164C>T (p.Ser2055Phe)
NM_001164508.2(NEB):c.6172A>T (p.Ile2058Phe) rs543827269
NM_001164508.2(NEB):c.6179G>T (p.Ser2060Ile)
NM_001164508.2(NEB):c.617T>G (p.Leu206Arg)
NM_001164508.2(NEB):c.617del (p.Leu206fs) rs2150664716
NM_001164508.2(NEB):c.6180T>C (p.Ser2060=)
NM_001164508.2(NEB):c.6183+18G>A
NM_001164508.2(NEB):c.6183+1G>A rs557870969
NM_001164508.2(NEB):c.6183+1G>T
NM_001164508.2(NEB):c.6183+1del rs1553468960
NM_001164508.2(NEB):c.6183+2T>A rs1553468939
NM_001164508.2(NEB):c.6183+8C>T
NM_001164508.2(NEB):c.6184-13_6184-12del
NM_001164508.2(NEB):c.6184-14T>C rs10173335
NM_001164508.2(NEB):c.6184-16C>A
NM_001164508.2(NEB):c.6184-17T>C
NM_001164508.2(NEB):c.6184-17_6184-16del
NM_001164508.2(NEB):c.6184-1G>A rs2154149413
NM_001164508.2(NEB):c.6184-5C>T rs2154149421
NM_001164508.2(NEB):c.6188A>G (p.Lys2063Arg)
NM_001164508.2(NEB):c.6189A>G (p.Lys2063=)
NM_001164508.2(NEB):c.618G>A (p.Leu206=) rs2150664625
NM_001164508.2(NEB):c.6195G>A (p.Lys2065=)
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1]) rs767681176
NM_001164508.2(NEB):c.6198C>T (p.Tyr2066=) rs1407129280
NM_001164508.2(NEB):c.6201T>C (p.Asn2067=)
NM_001164508.2(NEB):c.6204T>G (p.Tyr2068Ter) rs2154149362
NM_001164508.2(NEB):c.6205G>T (p.Glu2069Ter)
NM_001164508.2(NEB):c.6208A>T (p.Lys2070Ter)
NM_001164508.2(NEB):c.6213G>A (p.Gly2071=)
NM_001164508.2(NEB):c.6216G>A (p.Lys2072=) rs547625126
NM_001164508.2(NEB):c.6226G>A (p.Val2076Ile)
NM_001164508.2(NEB):c.6236G>A (p.Arg2079His) rs760134969
NM_001164508.2(NEB):c.6237C>T (p.Arg2079=)
NM_001164508.2(NEB):c.6241C>T (p.Leu2081Phe)
NM_001164508.2(NEB):c.6242T>G (p.Leu2081Arg) rs2099085781
NM_001164508.2(NEB):c.6242_6243del (p.Leu2081fs) rs2154149251
NM_001164508.2(NEB):c.6243C>G (p.Leu2081=)
NM_001164508.2(NEB):c.6243C>T (p.Leu2081=) rs774982299
NM_001164508.2(NEB):c.6246G>A (p.Glu2082=)
NM_001164508.2(NEB):c.6249T>C (p.Asp2083=)
NM_001164508.2(NEB):c.624_627delinsAGCAGCACG (p.Glu209fs)
NM_001164508.2(NEB):c.6254C>T (p.Pro2085Leu) rs773025267
NM_001164508.2(NEB):c.6258A>G (p.Lys2086=)
NM_001164508.2(NEB):c.6263T>C (p.Val2088Ala)
NM_001164508.2(NEB):c.6264C>G (p.Val2088=) rs2154149185
NM_001164508.2(NEB):c.6270C>T (p.Ser2090=)
NM_001164508.2(NEB):c.6271A>C (p.Met2091Leu)
NM_001164508.2(NEB):c.6271A>G (p.Met2091Val)
NM_001164508.2(NEB):c.627A>G (p.Glu209=)
NM_001164508.2(NEB):c.6288G>A (p.Met2096Ile) rs2154149119
NM_001164508.2(NEB):c.6294T>C (p.Ser2098=)
NM_001164508.2(NEB):c.6294T>G (p.Ser2098=)
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001164508.2(NEB):c.6305A>G (p.Tyr2102Cys)
NM_001164508.2(NEB):c.6306C>T (p.Tyr2102=)
NM_001164508.2(NEB):c.6308A>G (p.Lys2103Arg)
NM_001164508.2(NEB):c.6321G>A (p.Glu2107=) rs2154149018
NM_001164508.2(NEB):c.6323A>G (p.Asn2108Ser) rs1558891493
NM_001164508.2(NEB):c.6324C>T (p.Asn2108=)
NM_001164508.2(NEB):c.632G>A (p.Trp211Ter)
NM_001164508.2(NEB):c.633G>A (p.Trp211Ter) rs2099780461
NM_001164508.2(NEB):c.6340C>T (p.His2114Tyr)
NM_001164508.2(NEB):c.6342C>T (p.His2114=)
NM_001164508.2(NEB):c.6343_6344dup (p.Ala2117fs) rs1575295628
NM_001164508.2(NEB):c.6351C>G (p.Ala2117=) rs756476348
NM_001164508.2(NEB):c.6352G>A (p.Asp2118Asn)
NM_001164508.2(NEB):c.6353_6354insTTCATATT (p.Met2119fs)
NM_001164508.2(NEB):c.6355A>G (p.Met2119Val)
NM_001164508.2(NEB):c.6356_6357del (p.Met2119fs)
NM_001164508.2(NEB):c.6369G>C (p.Thr2123=) rs540542570
NM_001164508.2(NEB):c.6378G>A (p.Lys2126=)
NM_001164508.2(NEB):c.6381T>C (p.Asp2127=)
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.6390C>A (p.Ala2130=)
NM_001164508.2(NEB):c.6394A>G (p.Ile2132Val) rs755394940
NM_001164508.2(NEB):c.6399C>G (p.Thr2133=)
NM_001164508.2(NEB):c.639A>G (p.Ala213=)
NM_001164508.2(NEB):c.63del (p.Glu22fs) rs2150994126
NM_001164508.2(NEB):c.6403A>G (p.Thr2135Ala)
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)
NM_001164508.2(NEB):c.6427A>T (p.Lys2143Ter)
NM_001164508.2(NEB):c.642C>T (p.Asp214=) rs373133009
NM_001164508.2(NEB):c.6430T>G (p.Tyr2144Asp)
NM_001164508.2(NEB):c.6435C>A (p.Ile2145=)
NM_001164508.2(NEB):c.6438C>T (p.Leu2146=)
NM_001164508.2(NEB):c.6444A>G (p.Pro2148=) rs776361032
NM_001164508.2(NEB):c.6455A>G (p.Asn2152Ser)
NM_001164508.2(NEB):c.6456C>T (p.Asn2152=) rs2154148597
NM_001164508.2(NEB):c.6463C>T (p.Leu2155=) rs1575291742
NM_001164508.2(NEB):c.6467C>G (p.Thr2156Ser)
NM_001164508.2(NEB):c.6468C>T (p.Thr2156=) rs939177563
NM_001164508.2(NEB):c.6469A>G (p.Arg2157Gly)
NM_001164508.2(NEB):c.6471G>A (p.Arg2157=) rs1197761252
NM_001164508.2(NEB):c.6476T>G (p.Met2159Arg)
NM_001164508.2(NEB):c.6476_6477insTTATG (p.Met2159fs)
NM_001164508.2(NEB):c.6492T>C (p.Ser2164=) rs2154148449
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn) rs1234273631
NM_001164508.2(NEB):c.6493G>C (p.Asp2165His) rs1234273631
NM_001164508.2(NEB):c.6495+16A>C rs1351696521
NM_001164508.2(NEB):c.6495+16A>G
NM_001164508.2(NEB):c.6495+17C>T
NM_001164508.2(NEB):c.6495+20G>A
NM_001164508.2(NEB):c.6495T>C (p.Asp2165=) rs758831243
NM_001164508.2(NEB):c.6496-10T>A
NM_001164508.2(NEB):c.6496-13A>G
NM_001164508.2(NEB):c.6496-17G>C
NM_001164508.2(NEB):c.6496-4A>G rs2154148017
NM_001164508.2(NEB):c.6496-5T>C
NM_001164508.2(NEB):c.6498T>C (p.Asn2166=) rs1484392213
NM_001164508.2(NEB):c.64G>A (p.Glu22Lys) rs2150994058
NM_001164508.2(NEB):c.6502T>C (p.Tyr2168His)
NM_001164508.2(NEB):c.6505A>T (p.Lys2169Ter)
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=) rs267598923
NM_001164508.2(NEB):c.6510A>G (p.Gln2170=)
NM_001164508.2(NEB):c.6522A>G (p.Glu2174=)
NM_001164508.2(NEB):c.6540C>T (p.Gly2180=)
NM_001164508.2(NEB):c.6542G>A (p.Trp2181Ter) rs2099082250
NM_001164508.2(NEB):c.6546T>C (p.Ser2182=) rs1575284577
NM_001164508.2(NEB):c.6547C>A (p.Pro2183Thr)
NM_001164508.2(NEB):c.6552A>G (p.Ala2184=)
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val) rs373439650
NM_001164508.2(NEB):c.6558T>A (p.Ser2186=) rs779503792
NM_001164508.2(NEB):c.6562del (p.Glu2188fs) rs1558883594
NM_001164508.2(NEB):c.6564A>G (p.Glu2188=)
NM_001164508.2(NEB):c.6567G>A (p.Val2189=)
NM_001164508.2(NEB):c.6568G>A (p.Glu2190Lys) rs2099082027
NM_001164508.2(NEB):c.6570G>A (p.Glu2190=) rs2099082018
NM_001164508.2(NEB):c.6572del (p.Lys2191fs)
NM_001164508.2(NEB):c.6576C>T (p.Ala2192=) rs2154147840
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
NM_001164508.2(NEB):c.6578A>G (p.Lys2193Arg) rs2099081977
NM_001164508.2(NEB):c.6583G>A (p.Ala2195Thr) rs2099081952
NM_001164508.2(NEB):c.6591A>G (p.Glu2197=) rs1553462437
NM_001164508.2(NEB):c.6594T>C (p.Tyr2198=) rs2154147794
NM_001164508.2(NEB):c.6597C>T (p.Ala2199=) rs2099081867
NM_001164508.2(NEB):c.6598A>G (p.Ser2200Gly) rs1553462412
NM_001164508.2(NEB):c.6600T>C (p.Ser2200=) rs2154147777
NM_001164508.2(NEB):c.6609del (p.Lys2203fs)
NM_001164508.2(NEB):c.660del (p.Tyr221fs) rs2150663206
NM_001164508.2(NEB):c.6612C>T (p.Tyr2204=)
NM_001164508.2(NEB):c.6615C>A (p.Arg2205=)
NM_001164508.2(NEB):c.6615C>T (p.Arg2205=) rs200018782
NM_001164508.2(NEB):c.6615_6624del (p.Gln2206fs)
NM_001164508.2(NEB):c.6621C>T (p.His2207=)
NM_001164508.2(NEB):c.6623C>T (p.Pro2208Leu)
NM_001164508.2(NEB):c.6624G>C (p.Pro2208=)
NM_001164508.2(NEB):c.6629A>C (p.Asn2210Thr) rs768864684
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser) rs768864684
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001164508.2(NEB):c.6636G>A (p.Gln2212=)
NM_001164508.2(NEB):c.6638delinsGTA (p.Phe2213fs)
NM_001164508.2(NEB):c.6639del (p.Phe2213fs) rs2154147691
NM_001164508.2(NEB):c.663T>C (p.Tyr221=)
NM_001164508.2(NEB):c.6642G>A (p.Lys2214=) rs2154147684
NM_001164508.2(NEB):c.6644_6646delinsGACAG (p.Lys2215fs)
NM_001164508.2(NEB):c.6648G>A (p.Leu2216=)
NM_001164508.2(NEB):c.6660G>A (p.Met2220Ile) rs199766131
NM_001164508.2(NEB):c.666T>C (p.Asn222=)
NM_001164508.2(NEB):c.6673dup (p.Ala2225fs)
NM_001164508.2(NEB):c.6678G>A (p.Lys2226=) rs755634045
NM_001164508.2(NEB):c.6679C>G (p.Gln2227Glu)
NM_001164508.2(NEB):c.6684T>C (p.Asn2228=)
NM_001164508.2(NEB):c.6702+11C>T
NM_001164508.2(NEB):c.6702+13G>A
NM_001164508.2(NEB):c.6702+14T>C
NM_001164508.2(NEB):c.6702+18C>T
NM_001164508.2(NEB):c.6702+20T>C
NM_001164508.2(NEB):c.6703-10C>T rs780740443
NM_001164508.2(NEB):c.6703-10dup
NM_001164508.2(NEB):c.6703-13del rs763294980
NM_001164508.2(NEB):c.6703-13dup rs763294980
NM_001164508.2(NEB):c.6703-19T>G
NM_001164508.2(NEB):c.6703-20C>T
NM_001164508.2(NEB):c.6708A>G (p.Leu2236=) rs2099076283
NM_001164508.2(NEB):c.6709_6710del (p.Tyr2237fs)
NM_001164508.2(NEB):c.6710del (p.Tyr2237fs) rs2099076260
NM_001164508.2(NEB):c.6713C>G (p.Thr2238Ser)
NM_001164508.2(NEB):c.6713C>T (p.Thr2238Ile)
NM_001164508.2(NEB):c.6719A>G (p.Asp2240Gly) rs1362776689
NM_001164508.2(NEB):c.6720T>C (p.Asp2240=) rs921924356
NM_001164508.2(NEB):c.6722G>A (p.Trp2241Ter)
NM_001164508.2(NEB):c.672C>T (p.Ser224=)
NM_001164508.2(NEB):c.6730G>A (p.Asp2244Asn)
NM_001164508.2(NEB):c.6732_6736del (p.Lys2245fs)
NM_001164508.2(NEB):c.6734dup (p.Thr2246fs) rs2099076059
NM_001164508.2(NEB):c.6746A>C (p.His2249Pro)
NM_001164508.2(NEB):c.6747T>C (p.His2249=)
NM_001164508.2(NEB):c.6750G>A (p.Val2250=)
NM_001164508.2(NEB):c.6753del (p.Met2251fs) rs2099075936
NM_001164508.2(NEB):c.6754C>T (p.Pro2252Ser)
NM_001164508.2(NEB):c.6756T>C (p.Pro2252=)
NM_001164508.2(NEB):c.6762A>C (p.Thr2254=) rs563192073
NM_001164508.2(NEB):c.6762A>G (p.Thr2254=)
NM_001164508.2(NEB):c.6774A>G (p.Leu2258=) rs2154146091
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter) rs773605767
NM_001164508.2(NEB):c.6778G>A (p.Ala2260Thr)
NM_001164508.2(NEB):c.6778G>C (p.Ala2260Pro)
NM_001164508.2(NEB):c.6780C>G (p.Ala2260=) rs546132354
NM_001164508.2(NEB):c.6780C>T (p.Ala2260=)
NM_001164508.2(NEB):c.6783G>A (p.Lys2261=) rs2099075727
NM_001164508.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del) rs1209177139
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn) rs2099075647
NM_001164508.2(NEB):c.6807+17A>C
NM_001164508.2(NEB):c.6807+20_6807+23del
NM_001164508.2(NEB):c.6807+20_6807+24del
NM_001164508.2(NEB):c.6808-15A>G
NM_001164508.2(NEB):c.6808-19G>T
NM_001164508.2(NEB):c.6808-2A>T rs1553457607
NM_001164508.2(NEB):c.6808-4T>A rs1186944329
NM_001164508.2(NEB):c.6808-4T>C rs1186944329
NM_001164508.2(NEB):c.6808-4del rs2099060261
NM_001164508.2(NEB):c.6808-7dup rs2099060261
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.681G>A (p.Leu227=)
NM_001164508.2(NEB):c.6824del (p.Gly2275fs) rs2099060040
NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu)
NM_001164508.2(NEB):c.6828G>C (p.Trp2276Cys) rs2099059984
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp) rs1363435897
NM_001164508.2(NEB):c.6831A>G (p.Glu2277=) rs2154143356
NM_001164508.2(NEB):c.6843G>A (p.Lys2281=) rs1575215956
NM_001164508.2(NEB):c.6851A>C (p.Tyr2284Ser) rs778637750
NM_001164508.2(NEB):c.6852T>C (p.Tyr2284=)
NM_001164508.2(NEB):c.6861A>G (p.Pro2287=)
NM_001164508.2(NEB):c.6862G>C (p.Val2288Leu)
NM_001164508.2(NEB):c.6867T>C (p.Asp2289=) rs2154143286
NM_001164508.2(NEB):c.6867_6869dup (p.Ala2290_Ile2291insAla)
NM_001164508.2(NEB):c.6870A>G (p.Ala2290=) rs2154143270
NM_001164508.2(NEB):c.6873T>G (p.Ile2291Met) rs1265000238
NM_001164508.2(NEB):c.6879A>G (p.Val2293=) rs2154143235
NM_001164508.2(NEB):c.6884T>C (p.Leu2295Pro) rs2099059670
NM_001164508.2(NEB):c.6884dup (p.Ala2296fs)
NM_001164508.2(NEB):c.6900A>G (p.Arg2300=) rs1553457085
NM_001164508.2(NEB):c.6903C>T (p.Asp2301=) rs376626113
NM_001164508.2(NEB):c.6914A>T (p.Asp2305Val)
NM_001164508.2(NEB):c.6915+1G>A
NM_001164508.2(NEB):c.6916-13T>C
NM_001164508.2(NEB):c.6916-16_6916-8del rs2099021798
NM_001164508.2(NEB):c.6916-17_6916-16del
NM_001164508.2(NEB):c.6916-18T>C
NM_001164508.2(NEB):c.6916-18dup
NM_001164508.2(NEB):c.6916-5T>C
NM_001164508.2(NEB):c.6916-7A>G rs2154135525
NM_001164508.2(NEB):c.6916-9T>C rs2154135540
NM_001164508.2(NEB):c.6922T>A (p.Tyr2308Asn)
NM_001164508.2(NEB):c.6923A>G (p.Tyr2308Cys)
NM_001164508.2(NEB):c.6926A>C (p.Lys2309Thr)
NM_001164508.2(NEB):c.6927A>G (p.Lys2309=)
NM_001164508.2(NEB):c.6928C>A (p.Gln2310Lys)
NM_001164508.2(NEB):c.6928C>G (p.Gln2310Glu)
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser) rs757526825
NM_001164508.2(NEB):c.6935A>G (p.Tyr2312Cys)
NM_001164508.2(NEB):c.6938G>A (p.Arg2313Gln)
NM_001164508.2(NEB):c.6942G>A (p.Lys2314=)
NM_001164508.2(NEB):c.6945A>G (p.Gln2315=)
NM_001164508.2(NEB):c.6946C>G (p.Leu2316Val)
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
NM_001164508.2(NEB):c.6948T>C (p.Leu2316=) rs1275672191
NM_001164508.2(NEB):c.6950G>C (p.Gly2317Ala)
NM_001164508.2(NEB):c.6951C>T (p.Gly2317=) rs1196967267
NM_001164508.2(NEB):c.6954C>G (p.His2318Gln)
NM_001164508.2(NEB):c.6956A>G (p.His2319Arg)
NM_001164508.2(NEB):c.6956_6967del (p.His2319_Phe2322del) rs1553449735
NM_001164508.2(NEB):c.6961G>A (p.Gly2321Arg) rs1575132924
NM_001164508.2(NEB):c.6967C>A (p.Arg2323=)
NM_001164508.2(NEB):c.6975G>A (p.Leu2325=)
NM_001164508.2(NEB):c.6990A>G (p.Lys2330=) rs2154135341
NM_001164508.2(NEB):c.6993del (p.Val2332fs) rs2099021112
NM_001164508.2(NEB):c.6996G>A (p.Val2332=)
NM_001164508.2(NEB):c.69G>T (p.Val23=) rs2099800863
NM_001164508.2(NEB):c.7003A>G (p.Met2335Val)
NM_001164508.2(NEB):c.7004T>C (p.Met2335Thr) rs769646337
NM_001164508.2(NEB):c.7025G>C (p.Ser2342Thr) rs372132667
NM_001164508.2(NEB):c.7026T>C (p.Ser2342=) rs2154135288
NM_001164508.2(NEB):c.7030A>C (p.Arg2344=)
NM_001164508.2(NEB):c.7033G>C (p.Glu2345Gln)
NM_001164508.2(NEB):c.7035A>G (p.Glu2345=) rs2154135279
NM_001164508.2(NEB):c.7039A>G (p.Lys2347Glu)
NM_001164508.2(NEB):c.7042A>T (p.Lys2348Ter)
NM_001164508.2(NEB):c.7054A>T (p.Lys2352Ter)
NM_001164508.2(NEB):c.7058G>A (p.Trp2353Ter)
NM_001164508.2(NEB):c.7065T>A (p.Thr2355=) rs2154135246
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
NM_001164508.2(NEB):c.7071C>T (p.Phe2357=)
NM_001164508.2(NEB):c.7075_7078del (p.Ser2359fs)
NM_001164508.2(NEB):c.7076G>C (p.Ser2359Thr)
NM_001164508.2(NEB):c.708T>C (p.Ala236=)
NM_001164508.2(NEB):c.708T>G (p.Ala236=) rs2150661224
NM_001164508.2(NEB):c.7092G>A (p.Leu2364=)
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
NM_001164508.2(NEB):c.7095A>C (p.Gly2365=)
NM_001164508.2(NEB):c.7096G>C (p.Val2366Leu)
NM_001164508.2(NEB):c.709C>T (p.Leu237Phe)
NM_001164508.2(NEB):c.7101A>G (p.Val2367=)
NM_001164508.2(NEB):c.7102C>G (p.Leu2368Val) rs1553449170
NM_001164508.2(NEB):c.7102C>T (p.Leu2368=)
NM_001164508.2(NEB):c.7107C>T (p.Ala2369=)
NM_001164508.2(NEB):c.711C>T (p.Leu237=) rs1421194169
NM_001164508.2(NEB):c.7120_7122dup (p.Glu2374dup) rs1553449134
NM_001164508.2(NEB):c.7135G>A (p.Val2379Met)
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.7144A>G (p.Lys2382Glu)
NM_001164508.2(NEB):c.7146del (p.Asn2383fs)
NM_001164508.2(NEB):c.7152C>A (p.Tyr2384Ter) rs2099020340
NM_001164508.2(NEB):c.7157A>G (p.His2386Arg)
NM_001164508.2(NEB):c.7158T>C (p.His2386=) rs1051050497
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg) rs2099020273
NM_001164508.2(NEB):c.7161G>A (p.Gln2387=) rs1388356625
NM_001164508.2(NEB):c.7163G>A (p.Trp2388Ter) rs2154135091
NM_001164508.2(NEB):c.717+10del
NM_001164508.2(NEB):c.717+17T>C
NM_001164508.2(NEB):c.717+17T>G
NM_001164508.2(NEB):c.717+19G>A
NM_001164508.2(NEB):c.717+1G>A rs1577833924
NM_001164508.2(NEB):c.7173G>A (p.Leu2391=)
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
NM_001164508.2(NEB):c.7179T>C (p.Asp2393=) rs2154135050
NM_001164508.2(NEB):c.718-15_718-14del rs763753126
NM_001164508.2(NEB):c.718-1G>A
NM_001164508.2(NEB):c.718-20C>T
NM_001164508.2(NEB):c.718-5A>T
NM_001164508.2(NEB):c.718-8T>C
NM_001164508.2(NEB):c.7182G>A (p.Gln2394=)
NM_001164508.2(NEB):c.7188T>C (p.Asp2396=) rs2154135035
NM_001164508.2(NEB):c.7194G>A (p.Val2398=)
NM_001164508.2(NEB):c.7194G>C (p.Val2398=)
NM_001164508.2(NEB):c.7197A>C (p.Gln2399His) rs2099020027
NM_001164508.2(NEB):c.7198G>A (p.Ala2400Thr)
NM_001164508.2(NEB):c.71C>A (p.Pro24Gln)
NM_001164508.2(NEB):c.7205A>G (p.Lys2402Arg)
NM_001164508.2(NEB):c.7206A>G (p.Lys2402=)
NM_001164508.2(NEB):c.7207G>C (p.Val2403Leu)
NM_001164508.2(NEB):c.7208T>A (p.Val2403Asp)
NM_001164508.2(NEB):c.7211A>G (p.Tyr2404Cys)
NM_001164508.2(NEB):c.7218G>T (p.Leu2406=)
NM_001164508.2(NEB):c.7219C>T (p.Gln2407Ter) rs2099019846
NM_001164508.2(NEB):c.7227+2T>C rs1553448527
NM_001164508.2(NEB):c.7227+7T>C rs752127208
NM_001164508.2(NEB):c.7227+9C>G rs2154134931
NM_001164508.2(NEB):c.7228-18_7228-15dup rs778540783
NM_001164508.2(NEB):c.7228-3C>G rs577996029
NM_001164508.2(NEB):c.7228-6T>G
NM_001164508.2(NEB):c.7228-7T>C rs2154134476
NM_001164508.2(NEB):c.7228-8T>A rs2154134484
NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys) rs1575122611
NM_001164508.2(NEB):c.7236T>C (p.Tyr2412=)
NM_001164508.2(NEB):c.724del (p.Tyr242fs) rs1577548638
NM_001164508.2(NEB):c.7253G>A (p.Trp2418Ter) rs1575122070
NM_001164508.2(NEB):c.7260A>G (p.Arg2420=)
NM_001164508.2(NEB):c.7265T>G (p.Ile2422Arg)
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) rs1057516348
NM_001164508.2(NEB):c.7279T>C (p.Leu2427=) rs564510167
NM_001164508.2(NEB):c.727A>G (p.Lys243Glu)
NM_001164508.2(NEB):c.7282G>A (p.Gly2428Ser)
NM_001164508.2(NEB):c.7284T>A (p.Gly2428=) rs756723106
NM_001164508.2(NEB):c.7284T>G (p.Gly2428=) rs756723106
NM_001164508.2(NEB):c.7289T>C (p.Leu2430Ser)
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg) rs1031592589
NM_001164508.2(NEB):c.7296A>G (p.Ala2432=) rs2154134321
NM_001164508.2(NEB):c.72G>A (p.Pro24=)
NM_001164508.2(NEB):c.72G>T (p.Pro24=)
NM_001164508.2(NEB):c.7305C>T (p.Asn2435=) rs2099016941
NM_001164508.2(NEB):c.7308G>A (p.Lys2436=) rs2154134306
NM_001164508.2(NEB):c.7309C>A (p.Arg2437=)
NM_001164508.2(NEB):c.7309C>G (p.Arg2437Gly)
NM_001164508.2(NEB):c.7310G>T (p.Arg2437Leu) rs61730780
NM_001164508.2(NEB):c.7312G>A (p.Ala2438Thr) rs202233025
NM_001164508.2(NEB):c.7318G>A (p.Glu2440Lys)
NM_001164508.2(NEB):c.7324A>G (p.Ile2442Val) rs1553447698
NM_001164508.2(NEB):c.7328G>T (p.Ser2443Ile)
NM_001164508.2(NEB):c.7329_7330del (p.Ser2443fs)
NM_001164508.2(NEB):c.732del (p.Gly245fs) rs1486623736
NM_001164508.2(NEB):c.7335G>A (p.Lys2445=) rs886043134
NM_001164508.2(NEB):c.7335_7338del (p.Lys2445fs) rs2154134253
NM_001164508.2(NEB):c.7339T>C (p.Tyr2447His)
NM_001164508.2(NEB):c.7344T>A (p.Arg2448=)
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.7347G>A (p.Gln2449=) rs769042183
NM_001164508.2(NEB):c.734del (p.Gly245fs) rs1559573882
NM_001164508.2(NEB):c.7356C>T (p.Asp2452=)
NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys) rs1057518861
NM_001164508.2(NEB):c.7369A>C (p.Thr2457Pro)
NM_001164508.2(NEB):c.736del (p.Leu246fs) rs2099762296
NM_001164508.2(NEB):c.7371C>G (p.Thr2457=) rs2154134156
NM_001164508.2(NEB):c.7371C>T (p.Thr2457=)
NM_001164508.2(NEB):c.7372A>G (p.Ser2458Gly)
NM_001164508.2(NEB):c.7373_7374delinsAA (p.Ser2458Lys)
NM_001164508.2(NEB):c.7377T>A (p.Ile2459=)
NM_001164508.2(NEB):c.7386C>T (p.Ala2462=) rs770687273
NM_001164508.2(NEB):c.738C>G (p.Leu246=)
NM_001164508.2(NEB):c.7390G>A (p.Asp2464Asn)
NM_001164508.2(NEB):c.7395A>T (p.Ile2465=)
NM_001164508.2(NEB):c.7398T>A (p.Val2466=) rs754735623
NM_001164508.2(NEB):c.7398T>C (p.Val2466=) rs754735623
NM_001164508.2(NEB):c.739del (p.Ala247fs) rs2150350376
NM_001164508.2(NEB):c.7407G>A (p.Lys2469=) rs2154134074
NM_001164508.2(NEB):c.7416C>T (p.Ala2472=) rs2154134055
NM_001164508.2(NEB):c.741T>C (p.Ala247=)
NM_001164508.2(NEB):c.7421A>C (p.Asn2474Thr)
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001164508.2(NEB):c.7431+7A>C rs2099015777
NM_001164508.2(NEB):c.7431+9C>T rs1486843790
NM_001164508.2(NEB):c.7432-10_7432-4del
NM_001164508.2(NEB):c.7432-14A>G
NM_001164508.2(NEB):c.7432-15T>C
NM_001164508.2(NEB):c.7432-19T>G
NM_001164508.2(NEB):c.7432-1G>A rs2154122716
NM_001164508.2(NEB):c.7432-2A>G rs1553990438
NM_001164508.2(NEB):c.7432-8T>C rs1575009726
NM_001164508.2(NEB):c.7434A>T (p.Arg2478Ser)
NM_001164508.2(NEB):c.7449T>C (p.Ala2483=) rs2154122656
NM_001164508.2(NEB):c.7453G>A (p.Asp2485Asn)
NM_001164508.2(NEB):c.7458A>G (p.Lys2486=) rs2154122629
NM_001164508.2(NEB):c.745C>T (p.Gln249Ter)
NM_001164508.2(NEB):c.7469A>C (p.Gln2490Pro) rs1446110323
NM_001164508.2(NEB):c.7470G>A (p.Gln2490=) rs2154122611
NM_001164508.2(NEB):c.7473C>T (p.Ile2491=) rs760783298
NM_001164508.2(NEB):c.7485T>C (p.Pro2495=)
NM_001164508.2(NEB):c.7487A>G (p.Asp2496Gly) rs767734665
NM_001164508.2(NEB):c.7494T>C (p.Pro2498=) rs2154122534
NM_001164508.2(NEB):c.7497C>T (p.Asp2499=) rs2154122524
NM_001164508.2(NEB):c.7498A>G (p.Ile2500Val)
NM_001164508.2(NEB):c.74G>A (p.Gly25Glu)
NM_001164508.2(NEB):c.7500T>C (p.Ile2500=)
NM_001164508.2(NEB):c.7511_7512del (p.Lys2504fs)
NM_001164508.2(NEB):c.7515A>C (p.Ala2505=) rs763516008
NM_001164508.2(NEB):c.7515A>G (p.Ala2505=)
NM_001164508.2(NEB):c.7518C>T (p.Asn2506=)
NM_001164508.2(NEB):c.7523T>C (p.Ile2508Thr)
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7527_7531del (p.Asn2509fs) rs2154122471
NM_001164508.2(NEB):c.7533T>C (p.Ser2511=)
NM_001164508.2(NEB):c.7536+11A>G rs2154122419
NM_001164508.2(NEB):c.7536+12A>G
NM_001164508.2(NEB):c.7536+15T>C
NM_001164508.2(NEB):c.7536+15T>G
NM_001164508.2(NEB):c.7536+17A>G
NM_001164508.2(NEB):c.7536+1G>A
NM_001164508.2(NEB):c.7536+20A>G
NM_001164508.2(NEB):c.7536+7T>C
NM_001164508.2(NEB):c.7536+8T>A
NM_001164508.2(NEB):c.7537-11T>C
NM_001164508.2(NEB):c.7537-12A>G
NM_001164508.2(NEB):c.7537-3C>A rs886054946
NM_001164508.2(NEB):c.7537A>T (p.Lys2513Ter)
NM_001164508.2(NEB):c.7538A>G (p.Lys2513Arg) rs190059793
NM_001164508.2(NEB):c.7543T>C (p.Tyr2515His)
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
NM_001164508.2(NEB):c.7569G>C (p.Lys2523Asn)
NM_001164508.2(NEB):c.756A>G (p.Gln252=) rs745503224
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
NM_001164508.2(NEB):c.7599C>G (p.Ala2533=)
NM_001164508.2(NEB):c.759C>T (p.Phe253=) rs1577547012
NM_001164508.2(NEB):c.75A>G (p.Gly25=) rs2150993484
NM_001164508.2(NEB):c.7601_7602insCCCCAGCTCTCTCC (p.Ile2536fs)
NM_001164508.2(NEB):c.7603C>A (p.Pro2535Thr)
NM_001164508.2(NEB):c.7611del (p.Ala2538fs)
NM_001164508.2(NEB):c.7623C>G (p.Ala2541=) rs371570995
NM_001164508.2(NEB):c.7626C>G (p.Ser2542=) rs1574957341
NM_001164508.2(NEB):c.7627C>A (p.Arg2543=) rs368148074
NM_001164508.2(NEB):c.7629G>C (p.Arg2543=)
NM_001164508.2(NEB):c.7644+17T>C
NM_001164508.2(NEB):c.7644+8T>G rs2154117770
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
NM_001164508.2(NEB):c.7645-12T>A
NM_001164508.2(NEB):c.7645-14T>C rs886054945
NM_001164508.2(NEB):c.7645-14dup rs1299254549
NM_001164508.2(NEB):c.7645-15A>T
NM_001164508.2(NEB):c.7645-16_7645-15del
NM_001164508.2(NEB):c.7645-6C>T
NM_001164508.2(NEB):c.7645-6dup
NM_001164508.2(NEB):c.7645-7del
NM_001164508.2(NEB):c.7646A>G (p.Tyr2549Cys) rs1553984101
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.7647C>T (p.Tyr2549=)
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001164508.2(NEB):c.7650G>A (p.Lys2550=)
NM_001164508.2(NEB):c.7665del (p.Arg2556fs)
NM_001164508.2(NEB):c.7667G>A (p.Arg2556His)
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu)
NM_001164508.2(NEB):c.7668C>T (p.Arg2556=)
NM_001164508.2(NEB):c.7679G>T (p.Gly2560Val)
NM_001164508.2(NEB):c.7692T>A (p.Gly2564=) rs773807220
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
NM_001164508.2(NEB):c.7697G>C (p.Arg2566Pro)
NM_001164508.2(NEB):c.7698G>C (p.Arg2566=) rs2154116717
NM_001164508.2(NEB):c.7701C>T (p.Asn2567=) rs2098921858
NM_001164508.2(NEB):c.7704T>A (p.Ile2568=)
NM_001164508.2(NEB):c.7706A>C (p.Glu2569Ala)
NM_001164508.2(NEB):c.7707A>G (p.Glu2569=) rs2154116661
NM_001164508.2(NEB):c.7710T>A (p.Asp2570Glu)
NM_001164508.2(NEB):c.7710T>C (p.Asp2570=)
NM_001164508.2(NEB):c.7713C>T (p.Asp2571=)
NM_001164508.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer) rs1553983416
NM_001164508.2(NEB):c.7733T>C (p.Met2578Thr)
NM_001164508.2(NEB):c.7740G>A (p.Val2580=) rs2098921464
NM_001164508.2(NEB):c.7743C>T (p.Ala2581=)
NM_001164508.2(NEB):c.7751A>G (p.Gln2584Arg)
NM_001164508.2(NEB):c.7761G>A (p.Arg2587=) rs869312958
NM_001164508.2(NEB):c.7762G>A (p.Glu2588Lys) rs756738995
NM_001164508.2(NEB):c.7764G>A (p.Glu2588=)
NM_001164508.2(NEB):c.7769A>G (p.Lys2590Arg)
NM_001164508.2(NEB):c.776C>T (p.Pro259Leu)
NM_001164508.2(NEB):c.7770G>A (p.Lys2590=) rs952871710
NM_001164508.2(NEB):c.7785G>A (p.Lys2595=)
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser) rs1425616065
NM_001164508.2(NEB):c.78+12C>T
NM_001164508.2(NEB):c.78+16C>A rs369843963
NM_001164508.2(NEB):c.78+19C>T
NM_001164508.2(NEB):c.78+8C>A rs1178512243
NM_001164508.2(NEB):c.78+9C>G rs373141155
NM_001164508.2(NEB):c.78+9C>T rs373141155
NM_001164508.2(NEB):c.7802G>A (p.Ser2601Asn)
NM_001164508.2(NEB):c.7803C>T (p.Ser2601=) rs1157483366
NM_001164508.2(NEB):c.7813del (p.Asp2605fs)
NM_001164508.2(NEB):c.7821G>A (p.Leu2607=) rs2154116437
NM_001164508.2(NEB):c.7824G>C (p.Gly2608=) rs1185596471
NM_001164508.2(NEB):c.7831T>C (p.Leu2611=) rs772164378
NM_001164508.2(NEB):c.7836C>T (p.Ala2612=)
NM_001164508.2(NEB):c.7837_7839delinsCAC (p.Lys2613His)
NM_001164508.2(NEB):c.783T>C (p.Asp261=) rs184395708
NM_001164508.2(NEB):c.7844G>T (p.Cys2615Phe) rs749508488
NM_001164508.2(NEB):c.7851C>A (p.Thr2617=) rs1553982484
NM_001164508.2(NEB):c.7851C>G (p.Thr2617=)
NM_001164508.2(NEB):c.7857C>T (p.Val2619=)
NM_001164508.2(NEB):c.7865T>C (p.Val2622Ala) rs563691738
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly) rs563691738
NM_001164508.2(NEB):c.7867G>A (p.Asp2623Asn) rs543795912
NM_001164508.2(NEB):c.7872C>T (p.Tyr2624=)
NM_001164508.2(NEB):c.7882C>G (p.Leu2628Val) rs1222037893
NM_001164508.2(NEB):c.7882C>T (p.Leu2628=) rs1222037893
NM_001164508.2(NEB):c.7884G>A (p.Leu2628=) rs1574938723
NM_001164508.2(NEB):c.7887C>T (p.His2629=)
NM_001164508.2(NEB):c.7892G>A (p.Trp2631Ter) rs2098919758
NM_001164508.2(NEB):c.7899C>T (p.Cys2633=) rs2098919716
NM_001164508.2(NEB):c.78G>A (p.Glu26=) rs1553702617
NM_001164508.2(NEB):c.79-11C>G
NM_001164508.2(NEB):c.79-13A>G
NM_001164508.2(NEB):c.79-15A>G rs1011570211
NM_001164508.2(NEB):c.79-18T>C
NM_001164508.2(NEB):c.79-18T>G
NM_001164508.2(NEB):c.79-1G>A
NM_001164508.2(NEB):c.79-20A>C
NM_001164508.2(NEB):c.79-20A>G
NM_001164508.2(NEB):c.79-8A>C rs2150926372
NM_001164508.2(NEB):c.7900del (p.Leu2634fs)
NM_001164508.2(NEB):c.7902G>A (p.Leu2634=) rs1213159316
NM_001164508.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn) rs1574937918
NM_001164508.2(NEB):c.7915G>A (p.Asp2639Asn)
NM_001164508.2(NEB):c.7920C>G (p.Val2640=)
NM_001164508.2(NEB):c.7925A>G (p.His2642Arg)
NM_001164508.2(NEB):c.7926T>C (p.His2642=)
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp)
NM_001164508.2(NEB):c.7941T>C (p.Tyr2647=)
NM_001164508.2(NEB):c.7948del (p.Gln2650fs)
NM_001164508.2(NEB):c.7956+13T>C
NM_001164508.2(NEB):c.7956+1G>A rs2098919015
NM_001164508.2(NEB):c.7956+20T>A
NM_001164508.2(NEB):c.7956+4A>G rs886054944
NM_001164508.2(NEB):c.7956+9A>G
NM_001164508.2(NEB):c.7956+9A>T rs1280854795
NM_001164508.2(NEB):c.7957-10G>A
NM_001164508.2(NEB):c.7957-13C>G
NM_001164508.2(NEB):c.7957-17G>A
NM_001164508.2(NEB):c.7957-17G>C
NM_001164508.2(NEB):c.7957-17G>T
NM_001164508.2(NEB):c.7957-20T>A
NM_001164508.2(NEB):c.7957-7C>A
NM_001164508.2(NEB):c.7957-7C>T
NM_001164508.2(NEB):c.7957-8A>C
NM_001164508.2(NEB):c.795C>T (p.Ala265=) rs758702606
NM_001164508.2(NEB):c.7962G>A (p.Leu2654=) rs947598445
NM_001164508.2(NEB):c.7962G>T (p.Leu2654Phe)
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.7968G>A (p.Lys2656=)
NM_001164508.2(NEB):c.7968G>C (p.Lys2656Asn)
NM_001164508.2(NEB):c.7978_7979del (p.Gln2660fs)
NM_001164508.2(NEB):c.7980G>A (p.Gln2660=)
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys) rs756956766
NM_001164508.2(NEB):c.7984del (p.Trp2661_Leu2662insTer) rs2098910159
NM_001164508.2(NEB):c.7986A>G (p.Leu2662=) rs931355796
NM_001164508.2(NEB):c.7993A>T (p.Ile2665Phe) rs2098910017
NM_001164508.2(NEB):c.7997del (p.Gly2666fs) rs2098909937
NM_001164508.2(NEB):c.8019C>A (p.Leu2673=) rs755883171
NM_001164508.2(NEB):c.8019C>G (p.Leu2673=) rs755883171
NM_001164508.2(NEB):c.8025T>C (p.Asp2675=) rs2154114713
NM_001164508.2(NEB):c.8026G>A (p.Glu2676Lys)
NM_001164508.2(NEB):c.8027A>G (p.Glu2676Gly) rs2154114705
NM_001164508.2(NEB):c.8029A>G (p.Lys2677Glu)
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu) rs549227905
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001164508.2(NEB):c.8042C>T (p.Ala2681Val)
NM_001164508.2(NEB):c.8043C>A (p.Ala2681=) rs2154114675
NM_001164508.2(NEB):c.8047C>A (p.Gln2683Lys) rs2154114662
NM_001164508.2(NEB):c.8055G>A (p.Leu2685=)
NM_001164508.2(NEB):c.8056del (p.Ser2686fs)
NM_001164508.2(NEB):c.8064T>C (p.His2688=) rs1057523363
NM_001164508.2(NEB):c.8068T>C (p.Tyr2690His)
NM_001164508.2(NEB):c.8070C>T (p.Tyr2690=)
NM_001164508.2(NEB):c.807C>A (p.Thr269=) rs1430006856
NM_001164508.2(NEB):c.8082A>T (p.Pro2694=)
NM_001164508.2(NEB):c.8088A>G (p.Gln2696=)
NM_001164508.2(NEB):c.8090T>C (p.Phe2697Ser)
NM_001164508.2(NEB):c.8094G>A (p.Lys2698=)
NM_001164508.2(NEB):c.8101A>G (p.Ser2701Gly) rs2098908042
NM_001164508.2(NEB):c.8103C>T (p.Ser2701=) rs1257370102
NM_001164508.2(NEB):c.8106T>C (p.Leu2702=)
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala) rs2098907855
NM_001164508.2(NEB):c.8111A>T (p.Asp2704Val)
NM_001164508.2(NEB):c.8111_8112del (p.Asp2704fs)
NM_001164508.2(NEB):c.8121A>G (p.Pro2707=) rs1574917544
NM_001164508.2(NEB):c.8126T>G (p.Val2709Gly)
NM_001164508.2(NEB):c.8128T>C (p.Leu2710=) rs2098907461
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val) rs1574917037
NM_001164508.2(NEB):c.814G>A (p.Val272Met)
NM_001164508.2(NEB):c.8151C>T (p.Thr2717=) rs2154114447
NM_001164508.2(NEB):c.8159A>C (p.His2720Pro)
NM_001164508.2(NEB):c.8160+10A>G rs2154114405
NM_001164508.2(NEB):c.8160+16G>T
NM_001164508.2(NEB):c.8160+17_8160+20del
NM_001164508.2(NEB):c.8160+19T>G
NM_001164508.2(NEB):c.8160+20G>C
NM_001164508.2(NEB):c.8160+7C>A
NM_001164508.2(NEB):c.8161-11G>A
NM_001164508.2(NEB):c.8161-20T>A
NM_001164508.2(NEB):c.8161-4T>G
NM_001164508.2(NEB):c.8161-6dup
NM_001164508.2(NEB):c.8161C>A (p.Arg2721Ser)
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001164508.2(NEB):c.8163C>T (p.Arg2721=) rs1574905085
NM_001164508.2(NEB):c.816G>T (p.Val272=)
NM_001164508.2(NEB):c.8171C>T (p.Thr2724Ile)
NM_001164508.2(NEB):c.8187A>G (p.Lys2729=) rs1466641302
NM_001164508.2(NEB):c.818G>A (p.Ser273Asn)
NM_001164508.2(NEB):c.8190T>A (p.Asp2730Glu)
NM_001164508.2(NEB):c.8200G>C (p.Val2734Leu)
NM_001164508.2(NEB):c.8203C>G (p.His2735Asp) rs759848500
NM_001164508.2(NEB):c.820A>G (p.Lys274Glu)
NM_001164508.2(NEB):c.8213C>T (p.Pro2738Leu)
NM_001164508.2(NEB):c.8217T>C (p.Asp2739=) rs568197703
NM_001164508.2(NEB):c.8219C>A (p.Thr2740Asn)
NM_001164508.2(NEB):c.8219C>T (p.Thr2740Ile) rs763429938
NM_001164508.2(NEB):c.822+13A>G rs1057523586
NM_001164508.2(NEB):c.822+1G>A rs2099762097
NM_001164508.2(NEB):c.822+7A>G rs2099762082
NM_001164508.2(NEB):c.822+8A>G rs2150347724
NM_001164508.2(NEB):c.8221C>T (p.Pro2741Ser)
NM_001164508.2(NEB):c.823-11C>A
NM_001164508.2(NEB):c.823-11C>T
NM_001164508.2(NEB):c.823-2A>G rs1553642811
NM_001164508.2(NEB):c.823-5dup
NM_001164508.2(NEB):c.8232A>G (p.Leu2744=)
NM_001164508.2(NEB):c.8233_8234del (p.Leu2745fs)
NM_001164508.2(NEB):c.8234T>G (p.Leu2745Ter)
NM_001164508.2(NEB):c.8239A>T (p.Lys2747Ter)
NM_001164508.2(NEB):c.8240_8241del (p.Lys2747fs)
NM_001164508.2(NEB):c.8247C>T (p.Asn2749=) rs1424462476
NM_001164508.2(NEB):c.8251G>A (p.Val2751Ile)
NM_001164508.2(NEB):c.8265+11T>C
NM_001164508.2(NEB):c.8265+13T>G
NM_001164508.2(NEB):c.8265+18A>G
NM_001164508.2(NEB):c.8265+1G>A rs1131691547
NM_001164508.2(NEB):c.8265+1G>T
NM_001164508.2(NEB):c.8266-12T>C
NM_001164508.2(NEB):c.8266-14A>G
NM_001164508.2(NEB):c.8266-15T>C
NM_001164508.2(NEB):c.8266-17A>C
NM_001164508.2(NEB):c.8266-17A>G
NM_001164508.2(NEB):c.8266-18T>C
NM_001164508.2(NEB):c.8266-19C>T
NM_001164508.2(NEB):c.8269T>C (p.Leu2757=)
NM_001164508.2(NEB):c.8269_8270dup (p.Leu2757fs) rs2154113080
NM_001164508.2(NEB):c.8271G>A (p.Leu2757=) rs1574897876
NM_001164508.2(NEB):c.8277G>A (p.Lys2759=) rs751972598
NM_001164508.2(NEB):c.8281G>A (p.Gly2761Ser)
NM_001164508.2(NEB):c.8283C>G (p.Gly2761=)
NM_001164508.2(NEB):c.8283C>T (p.Gly2761=) rs763584465
NM_001164508.2(NEB):c.8286A>G (p.Leu2762=) rs1485633105
NM_001164508.2(NEB):c.8293G>A (p.Ala2765Thr)
NM_001164508.2(NEB):c.8295C>T (p.Ala2765=) rs2154113022
NM_001164508.2(NEB):c.8298G>A (p.Lys2766=)
NM_001164508.2(NEB):c.8301G>A (p.Arg2767=)
NM_001164508.2(NEB):c.8304A>G (p.Lys2768=)
NM_001164508.2(NEB):c.8305G>A (p.Gly2769Ser)
NM_001164508.2(NEB):c.8306G>T (p.Gly2769Val) rs762272453
NM_001164508.2(NEB):c.8313C>T (p.Asp2771=)
NM_001164508.2(NEB):c.8315T>G (p.Met2772Arg) rs1574896797
NM_001164508.2(NEB):c.8317C>A (p.Arg2773=) rs776175154
NM_001164508.2(NEB):c.8326G>C (p.Ala2776Pro) rs2098890629
NM_001164508.2(NEB):c.8331T>A (p.Ile2777=) rs2154112958
NM_001164508.2(NEB):c.8333C>T (p.Pro2778Leu) rs2154112954
NM_001164508.2(NEB):c.8335A>T (p.Ile2779Phe) rs114853127
NM_001164508.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001164508.2(NEB):c.8344_8345delinsTT (p.Ala2782Phe)
NM_001164508.2(NEB):c.834A>G (p.Lys278=) rs2150051403
NM_001164508.2(NEB):c.834AGA[1] (p.Glu279del) rs1553642771
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
NM_001164508.2(NEB):c.8352C>T (p.Ala2784=)
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro) rs398124173
NM_001164508.2(NEB):c.8358A>G (p.Arg2786=)
NM_001164508.2(NEB):c.8359G>A (p.Asp2787Asn)
NM_001164508.2(NEB):c.8364T>A (p.Ile2788=)
NM_001164508.2(NEB):c.8373+15A>G
NM_001164508.2(NEB):c.8373+16A>C
NM_001164508.2(NEB):c.8373+16A>G
NM_001164508.2(NEB):c.8373+1G>A rs2154112865
NM_001164508.2(NEB):c.8373+7A>G rs2154112849
NM_001164508.2(NEB):c.8373+8T>C
NM_001164508.2(NEB):c.8374-10C>A
NM_001164508.2(NEB):c.8374-1G>A rs1180407562
NM_001164508.2(NEB):c.8374-20C>T
NM_001164508.2(NEB):c.8374-22_8374-19del
NM_001164508.2(NEB):c.8374-3T>C rs2154105691
NM_001164508.2(NEB):c.8379G>A (p.Lys2793=)
NM_001164508.2(NEB):c.8383A>G (p.Lys2795Glu)
NM_001164508.2(NEB):c.8386G>A (p.Glu2796Lys)
NM_001164508.2(NEB):c.8386del (p.Glu2796fs) rs2154105644
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001164508.2(NEB):c.8395C>G (p.Arg2799Gly) rs779321118
NM_001164508.2(NEB):c.8395C>T (p.Arg2799Cys)
NM_001164508.2(NEB):c.8398A>G (p.Lys2800Glu)
NM_001164508.2(NEB):c.840C>T (p.Asp280=) rs953526249
NM_001164508.2(NEB):c.8415C>T (p.His2805=)
NM_001164508.2(NEB):c.8418T>C (p.Ile2806=) rs2154105525
NM_001164508.2(NEB):c.8422G>T (p.Ala2808Ser)
NM_001164508.2(NEB):c.8425C>A (p.Arg2809=)
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001164508.2(NEB):c.8425del (p.Arg2809fs) rs1574820458
NM_001164508.2(NEB):c.8433A>T (p.Ile2811=)
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser) rs747131655
NM_001164508.2(NEB):c.8435G>A (p.Arg2812His)
NM_001164508.2(NEB):c.8436T>A (p.Arg2812=)
NM_001164508.2(NEB):c.8458_8459del (p.Ser2820fs) rs776982138
NM_001164508.2(NEB):c.8460C>T (p.Ser2820=)
NM_001164508.2(NEB):c.8461A>G (p.Met2821Val) rs2098834032
NM_001164508.2(NEB):c.8469G>A (p.Val2823=) rs1574818802
NM_001164508.2(NEB):c.8485G>A (p.Asp2829Asn)
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp) rs2098833761
NM_001164508.2(NEB):c.8497AAG[1] (p.Lys2834del) rs764523437
NM_001164508.2(NEB):c.8498A>G (p.Lys2833Arg)
NM_001164508.2(NEB):c.8502G>A (p.Lys2834=)
NM_001164508.2(NEB):c.8505C>T (p.Asp2835=) rs2154105283
NM_001164508.2(NEB):c.8508T>C (p.Phe2836=)
NM_001164508.2(NEB):c.8515T>A (p.Trp2839Arg)
NM_001164508.2(NEB):c.8530A>T (p.Ser2844Cys)
NM_001164508.2(NEB):c.8541G>A (p.Val2847=) rs2098833367
NM_001164508.2(NEB):c.8545_8546dup (p.Met2849fs)
NM_001164508.2(NEB):c.8547G>C (p.Met2849Ile) rs2098833299
NM_001164508.2(NEB):c.8550G>T (p.Leu2850=)
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu) rs1256097684
NM_001164508.2(NEB):c.8554del (p.Val2852fs)
NM_001164508.2(NEB):c.8559G>A (p.Val2853=)
NM_001164508.2(NEB):c.855_856insGCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATAAAATC (p.Lys286delinsAlaArgLeuProLeuProLeuProSerProSerProValSerLeuSerLeuSerArgLeuXaaXaaXaaXaaLysLysLysLysLysLysArgLysTer)
NM_001164508.2(NEB):c.8560C>T (p.Leu2854=) rs772120513
NM_001164508.2(NEB):c.8569A>T (p.Lys2857Ter)
NM_001164508.2(NEB):c.8577G>A (p.Gln2859=) rs2154105100
NM_001164508.2(NEB):c.8584G>T (p.Val2862Phe) rs949616238
NM_001164508.2(NEB):c.8585_8588del (p.Val2862fs)
NM_001164508.2(NEB):c.8586C>T (p.Val2862=)
NM_001164508.2(NEB):c.858del (p.Gly287fs)
NM_001164508.2(NEB):c.8590G>T (p.Asp2864Tyr)
NM_001164508.2(NEB):c.8595G>A (p.Val2865=) rs1296412908
NM_001164508.2(NEB):c.8597A>G (p.Asp2866Gly) rs370002964
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001164508.2(NEB):c.8599T>C (p.Tyr2867His)
NM_001164508.2(NEB):c.85A>G (p.Thr29Ala)
NM_001164508.2(NEB):c.8609A>G (p.Tyr2870Cys)
NM_001164508.2(NEB):c.8610C>T (p.Tyr2870=) rs1574814350
NM_001164508.2(NEB):c.8615A>G (p.His2872Arg) rs2098832647
NM_001164508.2(NEB):c.8617C>A (p.Gln2873Lys)
NM_001164508.2(NEB):c.8619G>A (p.Gln2873=) rs750274374
NM_001164508.2(NEB):c.861C>A (p.Gly287=)
NM_001164508.2(NEB):c.8620T>A (p.Trp2874Arg) rs2154104967
NM_001164508.2(NEB):c.8628C>T (p.Cys2876=) rs375721498
NM_001164508.2(NEB):c.8631G>A (p.Leu2877=) rs1190853165
NM_001164508.2(NEB):c.8638C>T (p.Gln2880Ter)
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala) rs2098832346
NM_001164508.2(NEB):c.864A>G (p.Lys288=) rs2150050846
NM_001164508.2(NEB):c.8652C>A (p.Ile2884=) rs1488080807
NM_001164508.2(NEB):c.8652C>T (p.Ile2884=)
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp) rs748618562
NM_001164508.2(NEB):c.8660G>A (p.Arg2887Gln) rs781688981
NM_001164508.2(NEB):c.8666C>G (p.Ala2889Gly)
NM_001164508.2(NEB):c.8668T>G (p.Tyr2890Asp)
NM_001164508.2(NEB):c.8680A>C (p.Ser2894Arg)
NM_001164508.2(NEB):c.8681G>A (p.Ser2894Asn) rs1420993227
NM_001164508.2(NEB):c.8682C>A (p.Ser2894Arg) rs373799650
NM_001164508.2(NEB):c.8682C>T (p.Ser2894=) rs373799650
NM_001164508.2(NEB):c.8685+13A>G rs2154104712
NM_001164508.2(NEB):c.8685+14G>A
NM_001164508.2(NEB):c.8685+17A>G
NM_001164508.2(NEB):c.8685+18T>C
NM_001164508.2(NEB):c.8685+19A>G
NM_001164508.2(NEB):c.8685+3G>A
NM_001164508.2(NEB):c.8685+8C>G
NM_001164508.2(NEB):c.8686-10G>C rs769262070
NM_001164508.2(NEB):c.8686-14A>G
NM_001164508.2(NEB):c.8686-16C>T
NM_001164508.2(NEB):c.8686-17del
NM_001164508.2(NEB):c.8686-2A>G
NM_001164508.2(NEB):c.8686-3C>T rs2098827787
NM_001164508.2(NEB):c.8686-8G>A
NM_001164508.2(NEB):c.8693A>G (p.Tyr2898Cys)
NM_001164508.2(NEB):c.8697del (p.Lys2899fs)
NM_001164508.2(NEB):c.8700T>C (p.Ser2900=) rs774631406
NM_001164508.2(NEB):c.8709G>A (p.Gln2903=)
NM_001164508.2(NEB):c.870T>C (p.Ser290=)
NM_001164508.2(NEB):c.870_873del (p.Ser290fs) rs2150050727
NM_001164508.2(NEB):c.8717G>C (p.Arg2906Thr) rs2154103510
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser) rs753718572
NM_001164508.2(NEB):c.8722A>C (p.Ile2908Leu)
NM_001164508.2(NEB):c.8722A>T (p.Ile2908Phe)
NM_001164508.2(NEB):c.8726G>C (p.Gly2909Ala)
NM_001164508.2(NEB):c.8727C>T (p.Gly2909=)
NM_001164508.2(NEB):c.8729G>A (p.Trp2910Ter)
NM_001164508.2(NEB):c.8732T>G (p.Val2911Gly)
NM_001164508.2(NEB):c.8733_8734inv (p.Ser2912Pro)
NM_001164508.2(NEB):c.8739T>C (p.Ile2913=)
NM_001164508.2(NEB):c.8742C>T (p.Gly2914=) rs1455295349
NM_001164508.2(NEB):c.8749G>T (p.Asp2917Tyr)
NM_001164508.2(NEB):c.8750_8751insGCAGCAG (p.Asp2917fs)
NM_001164508.2(NEB):c.8753T>G (p.Val2918Gly) rs2098827193
NM_001164508.2(NEB):c.8760A>G (p.Lys2920=) rs2154103360
NM_001164508.2(NEB):c.8767A>C (p.Arg2923=) rs2154103341
NM_001164508.2(NEB):c.8772A>C (p.Ala2924=) rs2154103315
NM_001164508.2(NEB):c.8772A>G (p.Ala2924=) rs2154103315
NM_001164508.2(NEB):c.8789A>G (p.Asp2930Gly) rs979095688
NM_001164508.2(NEB):c.8790T>G (p.Asp2930Glu)
NM_001164508.2(NEB):c.8793A>C (p.Lys2931Asn) rs764708311
NM_001164508.2(NEB):c.8794A>G (p.Ile2932Val) rs2098826922
NM_001164508.2(NEB):c.8796C>A (p.Ile2932=) rs886054943
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter) rs1351747266
NM_001164508.2(NEB):c.8808T>G (p.Pro2936=) rs2154103180
NM_001164508.2(NEB):c.8829C>T (p.Thr2943=) rs2154103123
NM_001164508.2(NEB):c.8831G>A (p.Ser2944Asn)
NM_001164508.2(NEB):c.8834_8835del (p.Val2945fs)
NM_001164508.2(NEB):c.8841C>T (p.Asp2947=)
NM_001164508.2(NEB):c.8844T>C (p.Ser2948=)
NM_001164508.2(NEB):c.8845C>T (p.Leu2949=)
NM_001164508.2(NEB):c.8851C>G (p.Gln2951Glu) rs2154103068
NM_001164508.2(NEB):c.8856G>A (p.Val2952=) rs1180108686
NM_001164508.2(NEB):c.8858T>C (p.Leu2953Ser)
NM_001164508.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001164508.2(NEB):c.8876T>A (p.Ile2959Asn) rs1228319024
NM_001164508.2(NEB):c.8879C>T (p.Thr2960Ile)
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del) rs1553964000
NM_001164508.2(NEB):c.8881A>G (p.Met2961Val)
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter) rs1553963973
NM_001164508.2(NEB):c.8889+14A>C
NM_001164508.2(NEB):c.8889+18A>G
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8889+20A>G
NM_001164508.2(NEB):c.8889+9T>C
NM_001164508.2(NEB):c.8890-14A>G
NM_001164508.2(NEB):c.8890-16G>A
NM_001164508.2(NEB):c.8890-18G>A
NM_001164508.2(NEB):c.8890-1G>A
NM_001164508.2(NEB):c.8890-6del rs771652505
NM_001164508.2(NEB):c.8890-6dup
NM_001164508.2(NEB):c.8890-7T>C
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
NM_001164508.2(NEB):c.8895A>G (p.Leu2965=)
NM_001164508.2(NEB):c.8897A>G (p.Tyr2966Cys) rs1560822452
NM_001164508.2(NEB):c.8901A>G (p.Thr2967=)
NM_001164508.2(NEB):c.8907C>T (p.Ala2969=)
NM_001164508.2(NEB):c.8910G>A (p.Trp2970Ter)
NM_001164508.2(NEB):c.8918A>C (p.Asp2973Ala)
NM_001164508.2(NEB):c.8922G>A (p.Lys2974=)
NM_001164508.2(NEB):c.8946C>T (p.Asp2982=) rs2154100963
NM_001164508.2(NEB):c.8952A>G (p.Pro2984=) rs2154100946
NM_001164508.2(NEB):c.8970A>G (p.Arg2990=) rs2154100920
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg) rs539367087
NM_001164508.2(NEB):c.8982C>G (p.Ile2994Met) rs1251791997
NM_001164508.2(NEB):c.8994+11A>G
NM_001164508.2(NEB):c.8994+16T>C
NM_001164508.2(NEB):c.8994+16_8994+17del rs745485126
NM_001164508.2(NEB):c.8994+17T>G
NM_001164508.2(NEB):c.8994+18G>A
NM_001164508.2(NEB):c.8994+19A>G
NM_001164508.2(NEB):c.8994+1G>A rs2098817648
NM_001164508.2(NEB):c.8994+2T>C rs1553962493
NM_001164508.2(NEB):c.8995-13C>T
NM_001164508.2(NEB):c.8995-14del rs770495295
NM_001164508.2(NEB):c.8995-14dup
NM_001164508.2(NEB):c.8995-18T>C
NM_001164508.2(NEB):c.8995-1G>C
NM_001164508.2(NEB):c.8995-6A>C rs2154090926
NM_001164508.2(NEB):c.8995-8A>C
NM_001164508.2(NEB):c.8995-9C>T
NM_001164508.2(NEB):c.8997T>A (p.Ser2999Arg) rs2154090899
NM_001164508.2(NEB):c.9002A>G (p.Tyr3001Cys) rs1574635522
NM_001164508.2(NEB):c.9009T>C (p.Leu3003=)
NM_001164508.2(NEB):c.900C>T (p.Ala300=) rs778204122
NM_001164508.2(NEB):c.9015T>A (p.Asn3005Lys)
NM_001164508.2(NEB):c.9015T>C (p.Asn3005=) rs576142462
NM_001164508.2(NEB):c.9019G>A (p.Glu3007Lys)
NM_001164508.2(NEB):c.9025A>C (p.Lys3009Gln)
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn) rs2099741678
NM_001164508.2(NEB):c.9039T>C (p.Tyr3013=)
NM_001164508.2(NEB):c.903A>T (p.Arg301Ser)
NM_001164508.2(NEB):c.9042C>T (p.Asp3014=) rs1262229809
NM_001164508.2(NEB):c.9044T>C (p.Leu3015Ser) rs573822094
NM_001164508.2(NEB):c.9046C>G (p.Arg3016Gly) rs1057517977
NM_001164508.2(NEB):c.9048A>T (p.Arg3016=)
NM_001164508.2(NEB):c.904A>G (p.Met302Val) rs755508128
NM_001164508.2(NEB):c.9052G>T (p.Asp3018Tyr)
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001164508.2(NEB):c.9054C>T (p.Asp3018=) rs748395516
NM_001164508.2(NEB):c.9056C>T (p.Ala3019Val) rs1394119778
NM_001164508.2(NEB):c.9057C>G (p.Ala3019=) rs1411759598
NM_001164508.2(NEB):c.906G>A (p.Met302Ile)
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
NM_001164508.2(NEB):c.9081C>T (p.Ala3027=) rs2154090635
NM_001164508.2(NEB):c.9102+12A>G
NM_001164508.2(NEB):c.9102+1G>A rs143644938
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
NM_001164508.2(NEB):c.9103-18T>C
NM_001164508.2(NEB):c.9103-4_9103-3del rs749056839
NM_001164508.2(NEB):c.9103-6T>C
NM_001164508.2(NEB):c.9108A>T (p.Lys3036Asn)
NM_001164508.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001164508.2(NEB):c.9114A>G (p.Lys3038=) rs1260779517
NM_001164508.2(NEB):c.9117T>C (p.Asp3039=) rs2154081439
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser) rs758739517
NM_001164508.2(NEB):c.9120T>C (p.Gly3040=) rs2098712581
NM_001164508.2(NEB):c.9123_9124delinsTC (p.Cys3042Arg) rs1574530781
NM_001164508.2(NEB):c.9124_9125inv (p.Cys3042His)
NM_001164508.2(NEB):c.9138C>T (p.Gly3046=)
NM_001164508.2(NEB):c.9156G>A (p.Arg3052=) rs2154081242
NM_001164508.2(NEB):c.915T>C (p.Asp305=)
NM_001164508.2(NEB):c.9174C>G (p.Pro3058=) rs2154081222
NM_001164508.2(NEB):c.9176A>G (p.Lys3059Arg)
NM_001164508.2(NEB):c.9177G>A (p.Lys3059=) rs2154081208
NM_001164508.2(NEB):c.9189C>T (p.Ser3063=) rs2154081173
NM_001164508.2(NEB):c.9193C>T (p.His3065Tyr)
NM_001164508.2(NEB):c.9211_9218del (p.Ser3071fs)
NM_001164508.2(NEB):c.9217_9218del (p.Arg3073fs) rs1574526903
NM_001164508.2(NEB):c.9219G>A (p.Arg3073=)
NM_001164508.2(NEB):c.9225C>G (p.Tyr3075Ter)
NM_001164508.2(NEB):c.9234C>T (p.Asp3078=) rs1401025895
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter) rs1553947423
NM_001164508.2(NEB):c.9249G>A (p.Lys3083=) rs2154081052
NM_001164508.2(NEB):c.9258C>T (p.Phe3086=) rs2154081043
NM_001164508.2(NEB):c.927+14G>A rs1577279380
NM_001164508.2(NEB):c.927+16A>T
NM_001164508.2(NEB):c.927+1G>A rs374562457
NM_001164508.2(NEB):c.927+7T>C rs746940000
NM_001164508.2(NEB):c.927+9G>C rs1327165167
NM_001164508.2(NEB):c.927+9G>T
NM_001164508.2(NEB):c.9278T>C (p.Leu3093Pro) rs2098711068
NM_001164508.2(NEB):c.9279G>A (p.Leu3093=) rs2154080991
NM_001164508.2(NEB):c.928-10T>C rs886038454
NM_001164508.2(NEB):c.928-12G>A
NM_001164508.2(NEB):c.9281G>C (p.Gly3094Ala) rs896120572
NM_001164508.2(NEB):c.9283dup (p.Val3095fs)
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
NM_001164508.2(NEB):c.9309C>T (p.Thr3103=)
NM_001164508.2(NEB):c.9315C>T (p.Val3105=) rs371174518
NM_001164508.2(NEB):c.931A>T (p.Lys311Ter)
NM_001164508.2(NEB):c.9324G>C (p.Val3108=) rs1376979181
NM_001164508.2(NEB):c.9336C>G (p.Asn3112Lys)
NM_001164508.2(NEB):c.9339C>T (p.Tyr3113=) rs2154080863
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001164508.2(NEB):c.9348G>A (p.Glu3116=)
NM_001164508.2(NEB):c.934del (p.Tyr312fs) rs2150020225
NM_001164508.2(NEB):c.9351G>T (p.Trp3117Cys)
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=) rs6709886
NM_001164508.2(NEB):c.9365A>G (p.Asp3122Gly) rs2154080790
NM_001164508.2(NEB):c.9371G>A (p.Ser3124Asn)
NM_001164508.2(NEB):c.9374A>G (p.Asp3125Gly)
NM_001164508.2(NEB):c.9378C>T (p.Val3126=)
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter) rs1577253760
NM_001164508.2(NEB):c.9383A>G (p.His3128Arg) rs1460535254
NM_001164508.2(NEB):c.9389G>A (p.Arg3130Gln)
NM_001164508.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001164508.2(NEB):c.9396del (p.Tyr3133fs)
NM_001164508.2(NEB):c.9398A>G (p.Tyr3133Cys)
NM_001164508.2(NEB):c.9402C>T (p.Asp3134=) rs1447677348
NM_001164508.2(NEB):c.9407A>G (p.Gln3136Arg)
NM_001164508.2(NEB):c.940G>A (p.Glu314Lys)
NM_001164508.2(NEB):c.9414+16A>G
NM_001164508.2(NEB):c.9414+18A>G
NM_001164508.2(NEB):c.9414+19A>G
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9414+5G>A rs2154080637
NM_001164508.2(NEB):c.9414+8C>T rs1013796433
NM_001164508.2(NEB):c.9414+9A>G rs2154080604
NM_001164508.2(NEB):c.9415-10C>G rs1483729053
NM_001164508.2(NEB):c.9415-10C>T
NM_001164508.2(NEB):c.9415-12del
NM_001164508.2(NEB):c.9415-1G>A
NM_001164508.2(NEB):c.9415-20G>T
NM_001164508.2(NEB):c.9415-6G>C rs2154073663
NM_001164508.2(NEB):c.9415-7T>C rs2154073671
NM_001164508.2(NEB):c.9415-8C>T rs762399109
NM_001164508.2(NEB):c.9415-9T>A
NM_001164508.2(NEB):c.9426G>A (p.Lys3142=)
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001164508.2(NEB):c.9429A>G (p.Ser3143=)
NM_001164508.2(NEB):c.9435C>G (p.Leu3145=) rs1401272162
NM_001164508.2(NEB):c.9439T>G (p.Trp3147Gly) rs2098662413
NM_001164508.2(NEB):c.943G>T (p.Asp315Tyr)
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter) rs1553939774
NM_001164508.2(NEB):c.9444G>A (p.Leu3148=)
NM_001164508.2(NEB):c.9448G>A (p.Gly3150Ser)
NM_001164508.2(NEB):c.9450C>A (p.Gly3150=)
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs) rs1553939660
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter) rs1553939648
NM_001164508.2(NEB):c.9462C>A (p.Val3154=) rs756951979
NM_001164508.2(NEB):c.9463C>A (p.Pro3155Thr)
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9466A>T (p.Ile3156Phe) rs749280613
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001164508.2(NEB):c.9467T>C (p.Ile3156Thr) rs145770770
NM_001164508.2(NEB):c.946T>C (p.Phe316Leu) rs2150019628
NM_001164508.2(NEB):c.9473C>T (p.Ser3158Phe)
NM_001164508.2(NEB):c.9476T>C (p.Met3159Thr)
NM_001164508.2(NEB):c.9479A>C (p.Asp3160Ala) rs1574428058
NM_001164508.2(NEB):c.9481G>A (p.Val3161Met) rs1560693635
NM_001164508.2(NEB):c.9485del (p.Val3162fs) rs1553939284
NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg)
NM_001164508.2(NEB):c.9489G>A (p.Lys3163=) rs867224544
NM_001164508.2(NEB):c.9490T>C (p.Cys3164Arg) rs1292713138
NM_001164508.2(NEB):c.9494A>G (p.Lys3165Arg) rs771512413
NM_001164508.2(NEB):c.9503C>T (p.Thr3168Ile) rs2098661076
NM_001164508.2(NEB):c.9508dup (p.Ile3170fs)
NM_001164508.2(NEB):c.9510A>T (p.Ile3170=)
NM_001164508.2(NEB):c.9516T>C (p.Ser3172=) rs1350595610
NM_001164508.2(NEB):c.9528C>A (p.Tyr3176Ter)
NM_001164508.2(NEB):c.9528C>T (p.Tyr3176=) rs2098660756
NM_001164508.2(NEB):c.9530G>A (p.Arg3177His)
NM_001164508.2(NEB):c.9531C>T (p.Arg3177=) rs2154073226
NM_001164508.2(NEB):c.9532C>T (p.Gln3178Ter) rs2154073221
NM_001164508.2(NEB):c.9534G>A (p.Gln3178=) rs565924213
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001164508.2(NEB):c.9542A>G (p.Asp3181Gly)
NM_001164508.2(NEB):c.954C>T (p.Asn318=) rs1577253471
NM_001164508.2(NEB):c.9550A>G (p.Lys3184Glu)
NM_001164508.2(NEB):c.9551A>T (p.Lys3184Ile) rs2154073147
NM_001164508.2(NEB):c.9552A>G (p.Lys3184=) rs2154073140
NM_001164508.2(NEB):c.9556A>T (p.Thr3186Ser) rs2154073125
NM_001164508.2(NEB):c.955A>G (p.Met319Val) rs1269690979
NM_001164508.2(NEB):c.955A>T (p.Met319Leu)
NM_001164508.2(NEB):c.9561T>C (p.Ser3187=)
NM_001164508.2(NEB):c.9562G>A (p.Val3188Met)
NM_001164508.2(NEB):c.9564G>A (p.Val3188=)
NM_001164508.2(NEB):c.9576A>G (p.Leu3192=) rs779042130
NM_001164508.2(NEB):c.9576del (p.Glu3193fs) rs1553938571
NM_001164508.2(NEB):c.9579G>A (p.Glu3193=)
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter) rs2098659971
NM_001164508.2(NEB):c.9586C>G (p.Leu3196Val)
NM_001164508.2(NEB):c.9586C>T (p.Leu3196=)
NM_001164508.2(NEB):c.9587T>G (p.Leu3196Arg) rs754001835
NM_001164508.2(NEB):c.9590C>T (p.Ala3197Val) rs778131603
NM_001164508.2(NEB):c.9591C>G (p.Ala3197=)
NM_001164508.2(NEB):c.9600T>C (p.Asn3200=) rs2098659656
NM_001164508.2(NEB):c.9600del (p.Asn3200fs) rs2154072959
NM_001164508.2(NEB):c.9606C>G (p.Leu3202=) rs1574423035
NM_001164508.2(NEB):c.9609C>T (p.Asn3203=) rs1574422955
NM_001164508.2(NEB):c.9618+10A>C
NM_001164508.2(NEB):c.9618+12C>T
NM_001164508.2(NEB):c.9618+7C>A rs760075915
NM_001164508.2(NEB):c.9618+7C>G rs760075915
NM_001164508.2(NEB):c.9618+7C>T
NM_001164508.2(NEB):c.9618+9del rs2154072862
NM_001164508.2(NEB):c.9619-10T>C
NM_001164508.2(NEB):c.9619-10T>G
NM_001164508.2(NEB):c.9619-13T>A
NM_001164508.2(NEB):c.9619-14A>T
NM_001164508.2(NEB):c.9619-16T>C
NM_001164508.2(NEB):c.9619-17C>T
NM_001164508.2(NEB):c.9619-1G>A rs1390379576
NM_001164508.2(NEB):c.9619-4A>G rs2154071809
NM_001164508.2(NEB):c.9619-8T>C
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.9620G>T (p.Arg3207Leu) rs111841612
NM_001164508.2(NEB):c.9629C>T (p.Thr3210Ile)
NM_001164508.2(NEB):c.9630A>G (p.Thr3210=)
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys) rs757944456
NM_001164508.2(NEB):c.9636C>T (p.Ala3212=)
NM_001164508.2(NEB):c.9638G>A (p.Trp3213Ter)
NM_001164508.2(NEB):c.9642C>G (p.Asp3214Glu)
NM_001164508.2(NEB):c.9642C>T (p.Asp3214=) rs1157858933
NM_001164508.2(NEB):c.9643A>G (p.Lys3215Glu)
NM_001164508.2(NEB):c.9654T>C (p.Thr3218=) rs1005013494
NM_001164508.2(NEB):c.9659T>G (p.Ile3220Ser) rs2098651541
NM_001164508.2(NEB):c.9662del (p.His3221fs)
NM_001164508.2(NEB):c.9663C>A (p.His3221Gln)
NM_001164508.2(NEB):c.9663C>T (p.His3221=)
NM_001164508.2(NEB):c.9667del (p.Met3223fs)
NM_001164508.2(NEB):c.9679C>G (p.Pro3227Ala) rs778571060
NM_001164508.2(NEB):c.9681A>G (p.Pro3227=)
NM_001164508.2(NEB):c.9684G>A (p.Glu3228=) rs371740288
NM_001164508.2(NEB):c.968T>A (p.Ile323Asn)
NM_001164508.2(NEB):c.9690G>A (p.Met3230Ile)
NM_001164508.2(NEB):c.9691T>C (p.Leu3231=) rs2154071655
NM_001164508.2(NEB):c.9693G>A (p.Leu3231=)
NM_001164508.2(NEB):c.9694G>A (p.Ala3232Thr) rs1329330602
NM_001164508.2(NEB):c.9696A>C (p.Ala3232=) rs1289650145
NM_001164508.2(NEB):c.9696A>G (p.Ala3232=)
NM_001164508.2(NEB):c.96T>C (p.Tyr32=) rs1290845455
NM_001164508.2(NEB):c.9704A>G (p.Asn3235Ser)
NM_001164508.2(NEB):c.9711C>T (p.Ile3237=)
NM_001164508.2(NEB):c.9712A>G (p.Asn3238Asp)
NM_001164508.2(NEB):c.9713A>T (p.Asn3238Ile)
NM_001164508.2(NEB):c.9719G>C (p.Ser3240Thr)
NM_001164508.2(NEB):c.9721G>T (p.Glu3241Ter)
NM_001164508.2(NEB):c.9723+15C>A
NM_001164508.2(NEB):c.9723+15C>T
NM_001164508.2(NEB):c.9723+19G>A
NM_001164508.2(NEB):c.9723+1G>A rs113803601
NM_001164508.2(NEB):c.9723+4G>A rs577635321
NM_001164508.2(NEB):c.9723+8C>T rs369038670
NM_001164508.2(NEB):c.9724-10C>G rs2154068562
NM_001164508.2(NEB):c.9724-11T>C
NM_001164508.2(NEB):c.9724-13T>G
NM_001164508.2(NEB):c.9724-14C>G
NM_001164508.2(NEB):c.9724-16G>C
NM_001164508.2(NEB):c.9724-1G>A rs1553934586
NM_001164508.2(NEB):c.9724-2A>G rs1553934597
NM_001164508.2(NEB):c.9724-4A>G rs1574361885
NM_001164508.2(NEB):c.9725C>G (p.Thr3242Ser)
NM_001164508.2(NEB):c.9726T>C (p.Thr3242=) rs1574361511
NM_001164508.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
NM_001164508.2(NEB):c.9729A>T (p.Leu3243=) rs767498749
NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)
NM_001164508.2(NEB):c.9749A>C (p.Glu3250Ala)
NM_001164508.2(NEB):c.9751G>A (p.Ala3251Thr)
NM_001164508.2(NEB):c.9752C>A (p.Ala3251Glu)
NM_001164508.2(NEB):c.9754A>C (p.Lys3252Gln)
NM_001164508.2(NEB):c.9760A>C (p.Lys3254Gln)
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001164508.2(NEB):c.9775_9776del (p.Arg3259fs)
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln) rs200930670
NM_001164508.2(NEB):c.9784G>A (p.Ala3262Thr)
NM_001164508.2(NEB):c.9786C>T (p.Ala3262=)
NM_001164508.2(NEB):c.9790C>G (p.Pro3264Ala) rs755708498
NM_001164508.2(NEB):c.9793A>C (p.Ile3265Leu)
NM_001164508.2(NEB):c.9808_9809delinsTCTTTATGTT (p.Ala3270fs)
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg) rs1553934027
NM_001164508.2(NEB):c.9824T>C (p.Ile3275Thr)
NM_001164508.2(NEB):c.9831+12C>T
NM_001164508.2(NEB):c.9831+1G>A rs1553933986
NM_001164508.2(NEB):c.9831+20A>T
NM_001164508.2(NEB):c.9832-11C>A
NM_001164508.2(NEB):c.9832-11C>G rs2154061851
NM_001164508.2(NEB):c.9832-11C>T
NM_001164508.2(NEB):c.9832-11del
NM_001164508.2(NEB):c.9832-14C>A
NM_001164508.2(NEB):c.9832-8T>C
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg) rs772766917
NM_001164508.2(NEB):c.9837A>G (p.Lys3279=)
NM_001164508.2(NEB):c.9840C>G (p.Tyr3280Ter) rs766355387
NM_001164508.2(NEB):c.9840C>T (p.Tyr3280=)
NM_001164508.2(NEB):c.9843A>G (p.Lys3281=)
NM_001164508.2(NEB):c.9848G>T (p.Gly3283Val) rs2098553051
NM_001164508.2(NEB):c.985G>A (p.Glu329Lys) rs753638647
NM_001164508.2(NEB):c.985G>T (p.Glu329Ter)
NM_001164508.2(NEB):c.9861G>A (p.Gln3287=)
NM_001164508.2(NEB):c.9868C>T (p.His3290Tyr)
NM_001164508.2(NEB):c.9870C>T (p.His3290=)
NM_001164508.2(NEB):c.9871C>G (p.His3291Asp) rs2154061498
NM_001164508.2(NEB):c.9879A>G (p.Gly3293=) rs2098552565
NM_001164508.2(NEB):c.987A>G (p.Glu329=) rs1407934295
NM_001164508.2(NEB):c.9882C>A (p.Ala3294=) rs935195501
NM_001164508.2(NEB):c.9882C>T (p.Ala3294=)
NM_001164508.2(NEB):c.9885G>C (p.Arg3295=)
NM_001164508.2(NEB):c.9889A>G (p.Ile3297Val) rs1245785481
NM_001164508.2(NEB):c.9891T>A (p.Ile3297=) rs780867218
NM_001164508.2(NEB):c.9891T>C (p.Ile3297=) rs780867218
NM_001164508.2(NEB):c.9894A>G (p.Glu3298=) rs2154061297
NM_001164508.2(NEB):c.9897T>C (p.Asp3299=) rs1574283326
NM_001164508.2(NEB):c.9917C>T (p.Ser3306Phe) rs2154061189
NM_001164508.2(NEB):c.9919A>G (p.Met3307Val)
NM_001164508.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001164508.2(NEB):c.9922C>T (p.His3308Tyr) rs1369787156
NM_001164508.2(NEB):c.9925G>A (p.Val3309Met)
NM_001164508.2(NEB):c.9933G>A (p.Lys3311=) rs2154061110
NM_001164508.2(NEB):c.9939G>A (p.Gln3313=) rs767908602
NM_001164508.2(NEB):c.993A>G (p.Pro331=)
NM_001164508.2(NEB):c.9943del (p.Asp3315fs) rs1553930053
NM_001164508.2(NEB):c.9947G>A (p.Arg3316Lys)
NM_001164508.2(NEB):c.9954T>G (p.Tyr3318Ter) rs763541152
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met) rs373285394
NM_001164508.2(NEB):c.9960G>C (p.Lys3320Asn)
NM_001164508.2(NEB):c.996G>A (p.Glu332=) rs781706061
NM_001164508.2(NEB):c.9972G>T (p.Lys3324Asn) rs747709979
NM_001164508.2(NEB):c.9978G>A (p.Lys3326=) rs2098551583
NM_001164508.2(NEB):c.9984G>A (p.Lys3328=) rs2154060927
NM_001164508.2(NEB):c.9996A>G (p.Pro3332=)
NM_001164508.2(NEB):c.999T>C (p.Tyr333=)
NM_001164508.2(NEB):c.99G>A (p.Glu33=) rs1050135264
NM_001164508.2(NEB):c.9T>C (p.Asp3=)
NM_001271208.1(NEB):c.21103delG rs1553686994
NM_001271208.1(NEB):c.21213_21218del rs1553683577
NM_001271208.1(NEB):c.7291G>A rs767302772
NM_001271208.1(NEB):c.7651_7656del6 rs1553983947
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
NM_001271208.2(NEB):c.18696_18697insSVAelement

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