ClinVar Miner

List of variants in gene NEB reported as uncertain significance for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2240
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993 0.00238
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001164508.2(NEB):c.20466+11A>G rs181826071 0.00206
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
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.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=) rs143456239 0.00136
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521 0.00131
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 0.00109
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.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_001164508.2(NEB):c.18262-13C>T rs374553944 0.00102
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
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.20128G>A (p.Val6710Ile) rs199890298 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.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=) rs186244044 0.00058
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_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.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.8644G>A (p.Asp2882Asn) rs200729207 0.00043
NM_001164508.2(NEB):c.2107-8C>T rs369441230 0.00042
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.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.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.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.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.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 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.18948T>A (p.Asp6316Glu) rs370206339 0.00025
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050 0.00025
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 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.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.2771A>C (p.Tyr924Ser) rs199903114 0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met) rs377375638 0.00019
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp) rs371490023 0.00019
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641 0.00018
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452 0.00018
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys) rs200555425 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.11221G>A (p.Gly3741Ser) rs375657086 0.00016
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.9578A>G (p.Glu3193Gly) rs369985728 0.00016
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met) rs374961597 0.00015
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val) rs369957704 0.00014
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser) rs376194864 0.00014
NM_001164508.2(NEB):c.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.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.1119G>A (p.Arg373=) rs200914626 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu) rs373133009 0.00013
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys) rs200462308 0.00012
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val) rs149384863 0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr) rs375294508 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.6624G>A (p.Pro2208=) rs373278622 0.00012
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=) rs377015178 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.-114+3A>G rs772077208 0.00011
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.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.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001164508.2(NEB):c.6807+5A>G rs746481799 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.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg) rs373892420 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=) rs765208384 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 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.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.12200T>C (p.Ile4067Thr) rs746008098 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.17215G>A (p.Asp5739Asn) rs200672818 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.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 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.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.12511G>A (p.Ala4171Thr) rs1420479305 0.00008
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr) rs577939684 0.00008
NM_001164508.2(NEB):c.16625A>G (p.His5542Arg) rs773955783 0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641 0.00008
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val) rs541672313 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=) rs140558263 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.11034G>A (p.Pro3678=) rs528974814 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001164508.2(NEB):c.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His) rs546250852 0.00007
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831 0.00007
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu) rs200468391 0.00007
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=) rs368371414 0.00007
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067 0.00007
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His) rs373778424 0.00007
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120 0.00007
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025 0.00006
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile) rs368842783 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=) rs769476760 0.00006
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=) rs377183242 0.00006
NM_001164508.2(NEB):c.18166A>G (p.Arg6056Gly) rs779413062 0.00006
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566 0.00006
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg) rs757621444 0.00006
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651 0.00006
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) rs775553284 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His) rs773584363 0.00006
NM_001164508.2(NEB):c.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.3520G>A (p.Ala1174Thr) rs756135837 0.00006
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His) rs201984572 0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00006
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=) rs150496369 0.00006
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys) rs756926807 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 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.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.10589A>T (p.Gln3530Leu) rs573693040 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.11612A>G (p.Lys3871Arg) rs761955993 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.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.17900C>T (p.Thr5967Met) rs778982089 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.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453 0.00005
NM_001164508.2(NEB):c.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.9388C>T (p.Arg3130Trp) rs779778326 0.00005
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=) rs768708852 0.00004
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys) rs374471394 0.00004
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr) rs762993577 0.00004
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met) rs775362248 0.00004
NM_001164508.2(NEB):c.1152C>T (p.Asp384=) rs767328072 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.12062T>C (p.Ile4021Thr) rs370068571 0.00004
NM_001164508.2(NEB):c.12537A>G (p.Lys4179=) rs753569565 0.00004
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930 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.17183A>T (p.Asp5728Val) rs756098317 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154 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.19214A>G (p.Tyr6405Cys) rs368240939 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.19989A>T (p.Arg6663Ser) rs755153044 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00004
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro) rs767873861 0.00004
NM_001164508.2(NEB):c.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu) rs376157878 0.00004
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile) rs776012642 0.00004
NM_001164508.2(NEB):c.2250G>A (p.Thr750=) rs753965951 0.00004
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.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.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His) rs748121656 0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val) rs748679499 0.00004
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu) rs747225286 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser) rs368270996 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.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.6513T>C (p.Asp2171=) rs376535906 0.00004
NM_001164508.2(NEB):c.6916-20T>C rs780933765 0.00004
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu) rs777231395 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.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.9112A>G (p.Lys3038Glu) rs780293943 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.104C>T (p.Thr35Met) rs749153659 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.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=) rs200043736 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.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.12210C>G (p.Ala4070=) rs749556191 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys) rs756162358 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.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.17129A>G (p.Lys5710Arg) rs200501968 0.00003
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177 0.00003
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His) rs751957350 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.19082G>A (p.Ser6361Asn) rs768390701 0.00003
NM_001164508.2(NEB):c.19101+4C>T rs778716460 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.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.20972G>A (p.Arg6991His) rs781020561 0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592 0.00003
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=) rs372664114 0.00003
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=) rs543961404 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.4204A>G (p.Asn1402Asp) rs1219268531 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.5121A>G (p.Ala1707=) rs371962475 0.00003
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr) rs371639863 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.6067A>G (p.Met2023Val) rs779481792 0.00003
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=) rs886042654 0.00003
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys) rs372667149 0.00003
NM_001164508.2(NEB):c.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.6631T>C (p.Phe2211Leu) rs369374856 0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384 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.8738T>C (p.Ile2913Thr) rs368373064 0.00003
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972 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.9366C>A (p.Asp3122Glu) rs1271867113 0.00003
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn) rs780275367 0.00003
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met) rs745706462 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.11091A>C (p.Glu3697Asp) rs1470685965 0.00002
NM_001164508.2(NEB):c.11225A>G (p.Tyr3742Cys) rs752598891 0.00002
NM_001164508.2(NEB):c.11413A>G (p.Lys3805Glu) rs972557338 0.00002
NM_001164508.2(NEB):c.11457G>A (p.Val3819=) rs780152095 0.00002
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490 0.00002
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys) rs759419548 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.12330+4C>T rs772068098 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.13018G>A (p.Asp4340Asn) rs1462818722 0.00002
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu) rs759653954 0.00002
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys) rs762876022 0.00002
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu) rs759755890 0.00002
NM_001164508.2(NEB):c.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.17369C>T (p.Thr5790Ile) rs752014573 0.00002
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn) rs765593110 0.00002
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn) rs375143141 0.00002
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597 0.00002
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726 0.00002
NM_001164508.2(NEB):c.18052C>T (p.Leu6018Phe) rs1223624917 0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007 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.18693+9_18693+10del rs756671954 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.19861C>T (p.His6621Tyr) rs1559832482 0.00002
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln) rs375307136 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.20728G>A (p.Ala6910Thr) rs750152377 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.2940T>C (p.Asn980=) rs1472489170 0.00002
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser) rs544334101 0.00002
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880 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.3634G>A (p.Asp1212Asn) rs779673816 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.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.4392C>T (p.Gly1464=) rs771527086 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.5177C>T (p.Thr1726Ile) rs552140238 0.00002
NM_001164508.2(NEB):c.5656G>A (p.Glu1886Lys) rs746761562 0.00002
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His) rs767185795 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.6392A>T (p.Asn2131Ile) rs781202038 0.00002
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val) rs200481156 0.00002
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu) rs770322824 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.734G>T (p.Gly245Val) rs765569689 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.8224G>C (p.Glu2742Gln) rs772837483 0.00002
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=) rs746644593 0.00002
NM_001164508.2(NEB):c.8594T>C (p.Val2865Ala) rs754454398 0.00002
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr) rs747466015 0.00002
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly) rs765940770 0.00002
NM_001164508.2(NEB):c.9125G>A (p.Cys3042Tyr) rs779603526 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_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.10037C>T (p.Thr3346Ile) rs1560628791 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.10154A>G (p.Lys3385Arg) rs186278440 0.00001
NM_001164508.2(NEB):c.10166A>G (p.Gln3389Arg) rs2098541776 0.00001
NM_001164508.2(NEB):c.10223A>G (p.Lys3408Arg) rs762891609 0.00001
NM_001164508.2(NEB):c.10312G>A (p.Val3438Met) rs746015217 0.00001
NM_001164508.2(NEB):c.10382C>A (p.Thr3461Asn) rs1003683269 0.00001
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=) rs368803600 0.00001
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His) rs376558062 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.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.10992G>C (p.Gln3664His) rs1386975124 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.11072A>G (p.Asn3691Ser) rs1184035076 0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=) rs547109690 0.00001
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644 0.00001
NM_001164508.2(NEB):c.11181+3A>G rs1448725511 0.00001
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg) rs761139484 0.00001
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00001
NM_001164508.2(NEB):c.11506G>A (p.Asp3836Asn) rs758723038 0.00001
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr) rs758723038 0.00001
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln) rs755390933 0.00001
NM_001164508.2(NEB):c.11582C>T (p.Ala3861Val) rs773465698 0.00001
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127 0.00001
NM_001164508.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558 0.00001
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe) rs757175445 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.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.12005A>C (p.Asp4002Ala) rs1457058013 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.12234T>A (p.Thr4078=) rs752937326 0.00001
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr) rs557283717 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 0.00001
NM_001164508.2(NEB):c.1227C>T (p.Leu409=) rs371658494 0.00001
NM_001164508.2(NEB):c.1257T>G (p.Asp419Glu) rs549485763 0.00001
NM_001164508.2(NEB):c.12639+2dup rs2097758186 0.00001
NM_001164508.2(NEB):c.12640-10C>T rs1264692800 0.00001
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val) rs959840049 0.00001
NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869 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.1423A>G (p.Ile475Val) rs772070576 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.1478A>G (p.Tyr493Cys) rs1576674181 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe) rs749473348 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 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.16750A>G (p.Met5584Val) rs761807814 0.00001
NM_001164508.2(NEB):c.16760G>A (p.Gly5587Glu) rs1243813979 0.00001
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala) rs527672223 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+3A>G rs200059848 0.00001
NM_001164508.2(NEB):c.17080A>G (p.Ile5694Val) rs1287787210 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.17243G>A (p.Arg5748Gln) rs773983252 0.00001
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077 0.00001
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 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.17478G>A (p.Met5826Ile) rs1298196178 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.17644C>T (p.Arg5882Trp) rs769673154 0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996 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.17913T>A (p.Asp5971Glu) rs1167894918 0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207 0.00001
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060 0.00001
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser) rs1221212842 0.00001
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=) rs1319860549 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.18375T>C (p.Tyr6125=) rs1300207920 0.00001
NM_001164508.2(NEB):c.1839C>T (p.Ser613=) rs751976783 0.00001
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr) rs1577779523 0.00001
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr) rs764500250 0.00001
NM_001164508.2(NEB):c.18568G>A (p.Val6190Met) rs770824743 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.18709C>G (p.His6237Asp) rs750141196 0.00001
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met) rs781706876 0.00001
NM_001164508.2(NEB):c.18811C>T (p.His6271Tyr) rs932662350 0.00001
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn) rs766403303 0.00001
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=) rs773178453 0.00001
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg) rs1015281617 0.00001
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp) rs746394316 0.00001
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu) rs774608228 0.00001
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn) rs752626000 0.00001
NM_001164508.2(NEB):c.1942A>T (p.Asn648Tyr) rs1553592578 0.00001
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923 0.00001
NM_001164508.2(NEB):c.19699C>A (p.His6567Asn) rs886054933 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.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.19967G>A (p.Arg6656His) rs767200761 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.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.20122G>T (p.Val6708Phe) rs1312710050 0.00001
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys) rs767886794 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.20290A>G (p.Met6764Val) rs372042301 0.00001
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626 0.00001
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile) rs951646007 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.20831C>T (p.Thr6944Ile) rs763942330 0.00001
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met) rs767461697 0.00001
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His) rs767230683 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.2099A>G (p.Asn700Ser) rs770240346 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.21077G>A (p.Arg7026Gln) rs1487630736 0.00001
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113 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.21312+5G>A rs778363526 0.00001
NM_001164508.2(NEB):c.2135A>T (p.Asp712Val) rs563934691 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.2306G>A (p.Ser769Asn) rs534124991 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.2437G>A (p.Glu813Lys) rs752442261 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.2755C>G (p.His919Asp) rs373168257 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.2923G>A (p.Ala975Thr) rs917645712 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.2998C>T (p.Pro1000Ser) rs763910385 0.00001
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly) rs748741238 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.3255+2dup rs1276026682 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.3373G>C (p.Glu1125Gln) rs757784515 0.00001
NM_001164508.2(NEB):c.3379A>G (p.Lys1127Glu) rs1180667550 0.00001
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met) rs757659868 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.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330 0.00001
NM_001164508.2(NEB):c.3774T>C (p.Asp1258=) rs761903657 0.00001
NM_001164508.2(NEB):c.390T>A (p.Asp130Glu) rs2099787749 0.00001
NM_001164508.2(NEB):c.3987T>C (p.Asp1329=) rs764778381 0.00001
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr) rs1219059740 0.00001
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser) rs774219262 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.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.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.4375A>G (p.Lys1459Glu) rs371542110 0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=) rs755877926 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.4555G>A (p.Asp1519Asn) rs781655186 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.4789C>T (p.Pro1597Ser) rs772492791 0.00001
NM_001164508.2(NEB):c.4859C>T (p.Ala1620Val) rs2099215851 0.00001
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile) rs1575593044 0.00001
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp) rs369533357 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.5326C>A (p.Gln1776Lys) rs1306269352 0.00001
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039 0.00001
NM_001164508.2(NEB):c.53T>C (p.Val18Ala) rs781637539 0.00001
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly) rs1466182533 0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156 0.00001
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=) rs201539560 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.5801G>A (p.Gly1934Asp) rs763717355 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.5972A>G (p.His1991Arg) rs750070644 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 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.6388G>A (p.Ala2130Thr) rs756130763 0.00001
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser) rs774148469 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.652T>G (p.Phe218Val) rs1347757687 0.00001
NM_001164508.2(NEB):c.6530A>G (p.Lys2177Arg) rs768844040 0.00001
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser) rs1369530664 0.00001
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu) rs765096308 0.00001
NM_001164508.2(NEB):c.6767A>G (p.Asp2256Gly) rs373713314 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.6851A>G (p.Tyr2284Cys) rs778637750 0.00001
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr) rs777601721 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.7016A>G (p.Lys2339Arg) rs1452924362 0.00001
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667 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.7228-5C>T rs773213959 0.00001
NM_001164508.2(NEB):c.7273A>T (p.Ser2425Cys) rs758881101 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.7465A>G (p.Thr2489Ala) rs1321334284 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.7661G>A (p.Gly2554Asp) rs770338556 0.00001
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val) rs1334008702 0.00001
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063 0.00001
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys) rs377602828 0.00001
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr) rs779023599 0.00001
NM_001164508.2(NEB):c.7911G>C (p.Gln2637His) rs771035225 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001164508.2(NEB):c.8066T>C (p.Val2689Ala) rs1241788939 0.00001
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888 0.00001
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His) rs753996512 0.00001
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His) rs548343514 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.8393A>G (p.Tyr2798Cys) rs750799792 0.00001
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met) rs757497327 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.877C>T (p.Pro293Ser) rs200672688 0.00001
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=) rs774786443 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.9064A>G (p.Ile3022Val) rs2098761523 0.00001
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys) rs1335899216 0.00001
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile) rs755604172 0.00001
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283 0.00001
NM_001164508.2(NEB):c.934T>C (p.Tyr312His) rs1031048700 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.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.9619-3T>C rs756309002 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.9767A>G (p.Tyr3256Cys) rs1365723573 0.00001
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met) rs564504601 0.00001
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365 0.00001
NM_001164508.2(NEB):c.9848G>A (p.Gly3283Asp) rs2098553051 0.00001
NM_001164508.2(NEB):c.9884G>A (p.Arg3295Gln) rs201965465 0.00001
NM_001164508.2(NEB):c.9890T>C (p.Ile3297Thr) rs1323917769 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
NC_000002.11:g.(?_152342274)_(152432888_?)dup
NC_000002.11:g.(?_152369227)_(152376302_?)del
NC_000002.11:g.(?_152466303)_(152477560_?)dup
NC_000002.11:g.(?_152466303)_(152499887_?)dup
NC_000002.11:g.(?_152484352)_152490482del
NC_000002.12:g.(?_151496931)_(151497043_?)del
NC_000002.12:g.151535786TATACT[1] rs1553683577
NM_001164508.2(NEB):c.10007T>C (p.Leu3336Pro) rs1392434296
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.10036A>G (p.Thr3346Ala) rs2098550963
NM_001164508.2(NEB):c.10048G>A (p.Asp3350Asn) rs377180119
NM_001164508.2(NEB):c.1004T>A (p.Met335Lys)
NM_001164508.2(NEB):c.10056C>G (p.Asp3352Glu)
NM_001164508.2(NEB):c.10058A>G (p.Tyr3353Cys)
NM_001164508.2(NEB):c.10061A>G (p.Lys3354Arg)
NM_001164508.2(NEB):c.10080G>T (p.Trp3360Cys) rs1574278301
NM_001164508.2(NEB):c.10087C>A (p.Leu3363Met) rs2098550303
NM_001164508.2(NEB):c.10143+5G>C rs1158552388
NM_001164508.2(NEB):c.10143+9T>G
NM_001164508.2(NEB):c.10144-10_10144-9delinsG rs1553928417
NM_001164508.2(NEB):c.10154A>T (p.Lys3385Ile)
NM_001164508.2(NEB):c.1015del (p.Ala339fs) rs2150017687
NM_001164508.2(NEB):c.1016C>T (p.Ala339Val)
NM_001164508.2(NEB):c.10211T>G (p.Val3404Gly) rs2154058359
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.10228G>A (p.Ala3410Thr) rs1298375132
NM_001164508.2(NEB):c.10231G>T (p.Ala3411Ser) rs727504034
NM_001164508.2(NEB):c.10259G>A (p.Arg3420His)
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn) rs1370385550
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val) rs768451216
NM_001164508.2(NEB):c.10316T>C (p.Leu3439Pro) rs2154058008
NM_001164508.2(NEB):c.1031G>A (p.Ser344Asn) rs1224318643
NM_001164508.2(NEB):c.10326C>G (p.Asn3442Lys)
NM_001164508.2(NEB):c.10347+3G>A rs1226603362
NM_001164508.2(NEB):c.10347G>A (p.Lys3449=) rs1051033510
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
NM_001164508.2(NEB):c.1035+6A>G rs1577251081
NM_001164508.2(NEB):c.10358C>A (p.Thr3453Lys) rs781408732
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.10393A>G (p.Ile3465Val) rs535926481
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.10433A>G (p.Asn3478Ser) rs1246003078
NM_001164508.2(NEB):c.10447A>G (p.Ser3483Gly)
NM_001164508.2(NEB):c.10452+3A>G rs2154051876
NM_001164508.2(NEB):c.10453A>T (p.Ser3485Cys) rs2154027931
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys) rs765175171
NM_001164508.2(NEB):c.10519C>T (p.Pro3507Ser)
NM_001164508.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
NM_001164508.2(NEB):c.10555A>C (p.Ser3519Arg)
NM_001164508.2(NEB):c.10560+4A>G
NM_001164508.2(NEB):c.10599C>A (p.His3533Gln)
NM_001164508.2(NEB):c.10603A>T (p.Ile3535Phe)
NM_001164508.2(NEB):c.10613G>T (p.Arg3538Leu)
NM_001164508.2(NEB):c.10624G>A (p.Asp3542Asn) rs777939660
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
NM_001164508.2(NEB):c.1063A>G (p.Asn355Asp)
NM_001164508.2(NEB):c.10654A>T (p.Ile3552Phe)
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.10687A>G (p.Lys3563Glu)
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.1074A>G (p.Lys358=) rs2099709094
NM_001164508.2(NEB):c.10783G>A (p.Asp3595Asn)
NM_001164508.2(NEB):c.10792C>T (p.His3598Tyr)
NM_001164508.2(NEB):c.107CAA[1] (p.Thr37del) rs1553698850
NM_001164508.2(NEB):c.10802A>C (p.His3601Pro)
NM_001164508.2(NEB):c.10807T>C (p.Trp3603Arg)
NM_001164508.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal) rs1573936944
NM_001164508.2(NEB):c.10817T>C (p.Leu3606Pro)
NM_001164508.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr) rs2098331597
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn)
NM_001164508.2(NEB):c.10833CAT[1] (p.Ile3613del) rs773748212
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+4A>G
NM_001164508.2(NEB):c.10872C>A (p.Asp3624Glu) rs781328083
NM_001164508.2(NEB):c.10880A>G (p.Tyr3627Cys) rs573537251
NM_001164508.2(NEB):c.10884G>T (p.Lys3628Asn) rs2154017407
NM_001164508.2(NEB):c.10913G>C (p.Gly3638Ala)
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001164508.2(NEB):c.10957G>A (p.Ala3653Thr)
NM_001164508.2(NEB):c.10972A>G (p.Ser3658Gly) rs2154016610
NM_001164508.2(NEB):c.10982T>C (p.Ile3661Thr) rs886940194
NM_001164508.2(NEB):c.11022A>G (p.Ile3674Met)
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala) rs879255369
NM_001164508.2(NEB):c.11054A>G (p.Asn3685Ser)
NM_001164508.2(NEB):c.11068A>G (p.Met3690Val)
NM_001164508.2(NEB):c.1106A>G (p.Asn369Ser) rs2099709000
NM_001164508.2(NEB):c.11077-18_11077-17insTCTCTC
NM_001164508.2(NEB):c.11119C>T (p.His3707Tyr)
NM_001164508.2(NEB):c.11132A>T (p.Asp3711Val)
NM_001164508.2(NEB):c.11147T>C (p.Met3716Thr) rs2098235987
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.11177G>A (p.Ser3726Asn)
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.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.11253C>G (p.Ile3751Met)
NM_001164508.2(NEB):c.11288A>G (p.Asp3763Gly)
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn) rs1553898232
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu) rs374486286
NM_001164508.2(NEB):c.11324G>A (p.Gly3775Asp)
NM_001164508.2(NEB):c.11339C>A (p.Ala3780Asp)
NM_001164508.2(NEB):c.11342G>A (p.Arg3781Gln)
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
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.11403C>G (p.Asp3801Glu)
NM_001164508.2(NEB):c.11417A>G (p.Lys3806Arg) rs2098126289
NM_001164508.2(NEB):c.11440A>G (p.Lys3814Glu) rs1553897365
NM_001164508.2(NEB):c.11441A>G (p.Lys3814Arg)
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.11468G>C (p.Gly3823Ala)
NM_001164508.2(NEB):c.11479G>A (p.Ala3827Thr) rs1404351594
NM_001164508.2(NEB):c.11498T>C (p.Leu3833Pro) rs2098124760
NM_001164508.2(NEB):c.11515T>C (p.Tyr3839His)
NM_001164508.2(NEB):c.11516A>G (p.Tyr3839Cys)
NM_001164508.2(NEB):c.1152+6T>C
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile) rs542092706
NM_001164508.2(NEB):c.11581G>A (p.Ala3861Thr)
NM_001164508.2(NEB):c.11585A>G (p.Tyr3862Cys)
NM_001164508.2(NEB):c.11601+5G>A
NM_001164508.2(NEB):c.11602-13A>T rs886054941
NM_001164508.2(NEB):c.11612A>C (p.Lys3871Thr)
NM_001164508.2(NEB):c.11612A>T (p.Lys3871Ile)
NM_001164508.2(NEB):c.11615C>G (p.Ser3872Cys) rs886054940
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro) rs1131691534
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.11654T>A (p.Ile3885Asn) rs1367960856
NM_001164508.2(NEB):c.11668G>T (p.Val3890Phe)
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.11730C>G (p.Asp3910Glu)
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly) rs2098007899
NM_001164508.2(NEB):c.11826G>C (p.Trp3942Cys) rs759613419
NM_001164508.2(NEB):c.11836A>G (p.Lys3946Glu)
NM_001164508.2(NEB):c.11873T>C (p.Ile3958Thr)
NM_001164508.2(NEB):c.11889T>A (p.Ser3963Arg) rs773708904
NM_001164508.2(NEB):c.11890A>G (p.Asn3964Asp)
NM_001164508.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
NM_001164508.2(NEB):c.11902A>G (p.Ile3968Val)
NM_001164508.2(NEB):c.11910+3A>G rs2097920067
NM_001164508.2(NEB):c.11911-12T>G rs2153974946
NM_001164508.2(NEB):c.11911A>G (p.Lys3971Glu) rs762228870
NM_001164508.2(NEB):c.11932G>T (p.Asp3978Tyr) rs2097912400
NM_001164508.2(NEB):c.11948A>G (p.Lys3983Arg)
NM_001164508.2(NEB):c.11949_11957dup (p.Tyr3985_Asp3986insGluAspTyr) rs753048510
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.12010G>C (p.Ala4004Pro)
NM_001164508.2(NEB):c.12013A>T (p.Ser4005Cys)
NM_001164508.2(NEB):c.12018+8C>G rs2097909628
NM_001164508.2(NEB):c.12018C>T (p.Asp4006=)
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.12041A>G (p.Glu4014Gly) rs2153972362
NM_001164508.2(NEB):c.1204T>G (p.Cys402Gly)
NM_001164508.2(NEB):c.12072G>T (p.Gln4024His)
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly) rs1188050770
NM_001164508.2(NEB):c.12082G>A (p.Asp4028Asn) rs2153972179
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.12137A>G (p.Glu4046Gly)
NM_001164508.2(NEB):c.12151T>C (p.Phe4051Leu)
NM_001164508.2(NEB):c.12158A>C (p.Lys4053Thr)
NM_001164508.2(NEB):c.12185T>C (p.Val4062Ala)
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.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.12260A>G (p.His4087Arg) rs199683595
NM_001164508.2(NEB):c.12262G>C (p.Glu4088Gln)
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.1227C>G (p.Leu409=) rs371658494
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys) rs755521679
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.12309G>C (p.Lys4103Asn)
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.12326G>C (p.Ser4109Thr)
NM_001164508.2(NEB):c.12362G>A (p.Arg4121His) rs1310133597
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.12382G>A (p.Glu4128Lys) rs1553877949
NM_001164508.2(NEB):c.12394G>A (p.Glu4132Lys) rs2153960539
NM_001164508.2(NEB):c.12395A>G (p.Glu4132Gly) rs1553877904
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.12413T>G (p.Val4138Gly) rs1553877811
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001164508.2(NEB):c.12534+3A>C
NM_001164508.2(NEB):c.12534+3A>G rs2097772131
NM_001164508.2(NEB):c.12535-10C>T rs2097760296
NM_001164508.2(NEB):c.12535-3C>T rs2153958050
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001164508.2(NEB):c.1257+3A>G
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001164508.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001164508.2(NEB):c.12638A>G (p.Asn4213Ser) rs2097758270
NM_001164508.2(NEB):c.12639+4A>G
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu) rs2099604411
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001164508.2(NEB):c.12718G>T (p.Ala4240Ser) rs561736266
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001164508.2(NEB):c.1273T>G (p.Ser425Ala) rs1270235018
NM_001164508.2(NEB):c.12747+5G>A rs1251007091
NM_001164508.2(NEB):c.12784C>T (p.His4262Tyr) rs2097628697
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.12808C>A (p.Gln4270Lys) rs1057524648
NM_001164508.2(NEB):c.12832G>T (p.Ala4278Ser) rs1578941825
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
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.12911C>T (p.Pro4304Leu) rs1456001729
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
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.129G>T (p.Glu43Asp) rs1290183134
NM_001164508.2(NEB):c.1303G>T (p.Val435Leu) rs763255052
NM_001164508.2(NEB):c.13052A>G (p.Gln4351Arg) rs1553871396
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+5G>A
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn) rs1466400136
NM_001164508.2(NEB):c.1314C>G (p.Phe438Leu) rs765769921
NM_001164508.2(NEB):c.1315G>C (p.Glu439Gln)
NM_001164508.2(NEB):c.1316A>G (p.Glu439Gly) rs1553608272
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=) rs1553867144
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=) rs1578890458
NM_001164508.2(NEB):c.13263+4A>G rs2097566924
NM_001164508.2(NEB):c.13263+8C>T rs1553866957
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr) rs771832822
NM_001164508.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001164508.2(NEB):c.13367A>G (p.Asn4456Ser) rs2097549978
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13369-14CT[2] rs1553865749
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
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.13460G>T (p.Arg4487Met) rs1553865625
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.13475_13476delinsTT (p.Asp4492Val) rs1553865579
NM_001164508.2(NEB):c.13476+6A>C
NM_001164508.2(NEB):c.13477-7C>T rs1328191142
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001164508.2(NEB):c.13593G>C (p.Arg4531Ser) rs2097451987
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn) rs1578802735
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.1366-17A>G
NM_001164508.2(NEB):c.1366-3T>C
NM_001164508.2(NEB):c.13670A>G (p.Lys4557Arg)
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001164508.2(NEB):c.13719_13721delinsTCG (p.His4574Arg) rs2153902861
NM_001164508.2(NEB):c.1372T>C (p.Tyr458His) rs2149353691
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.13785C>T (p.Ser4595=) rs1578800572
NM_001164508.2(NEB):c.13788+2dup rs2153902530
NM_001164508.2(NEB):c.1396A>G (p.Arg466Gly)
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.1419G>T (p.Gln473His) rs761722604
NM_001164508.2(NEB):c.1434A>G (p.Glu478=) rs2149351968
NM_001164508.2(NEB):c.1435T>C (p.Tyr479His)
NM_001164508.2(NEB):c.1444A>G (p.Ile482Val) rs945055152
NM_001164508.2(NEB):c.1461G>T (p.Gln487His)
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
NM_001164508.2(NEB):c.1471-3C>T
NM_001164508.2(NEB):c.1531C>G (p.Leu511Val)
NM_001164508.2(NEB):c.1535T>A (p.Leu512Gln) rs2099599001
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1]) rs757726895
NM_001164508.2(NEB):c.1545A>C (p.Gln515His)
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.155T>G (p.Leu52Arg)
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.1569+3A>T rs1576671314
NM_001164508.2(NEB):c.1580A>G (p.Lys527Arg) rs773132178
NM_001164508.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001164508.2(NEB):c.1624G>T (p.Asp542Tyr)
NM_001164508.2(NEB):c.1654A>G (p.Asn552Asp) rs2099590400
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.16708C>T (p.Leu5570Phe)
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe) rs2153808846
NM_001164508.2(NEB):c.16736G>A (p.Arg5579His)
NM_001164508.2(NEB):c.16739G>T (p.Gly5580Val)
NM_001164508.2(NEB):c.1674+3A>C rs2099590253
NM_001164508.2(NEB):c.16765C>T (p.Pro5589Ser) rs1490534583
NM_001164508.2(NEB):c.16780G>A (p.Val5594Ile)
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.16837C>G (p.Leu5613Val)
NM_001164508.2(NEB):c.1684A>G (p.Lys562Glu)
NM_001164508.2(NEB):c.16908+3_16908+6del
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.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.17009G>T (p.Ser5670Ile)
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met) rs1360278350
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser) rs1390168520
NM_001164508.2(NEB):c.17018T>G (p.Leu5673Arg) rs2096589517
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly) rs547231033
NM_001164508.2(NEB):c.17038G>A (p.Glu5680Lys)
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
NM_001164508.2(NEB):c.17054G>C (p.Cys5685Ser)
NM_001164508.2(NEB):c.17063G>T (p.Arg5688Leu)
NM_001164508.2(NEB):c.17069A>G (p.Asp5690Gly)
NM_001164508.2(NEB):c.17078C>T (p.Pro5693Leu) rs2096588016
NM_001164508.2(NEB):c.17087C>A (p.Ala5696Asp)
NM_001164508.2(NEB):c.17118C>A (p.Asp5706Glu) rs769476760
NM_001164508.2(NEB):c.17119-21_17119-5del rs2153759284
NM_001164508.2(NEB):c.17173A>C (p.Thr5725Pro) rs2096580140
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.17198G>A (p.Arg5733His) rs371681892
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu) rs371681892
NM_001164508.2(NEB):c.17228A>G (p.Asn5743Ser) rs1022255644
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln) rs773556106
NM_001164508.2(NEB):c.1724T>C (p.Ile575Thr)
NM_001164508.2(NEB):c.17251T>G (p.Trp5751Gly) rs2096578090
NM_001164508.2(NEB):c.17258A>G (p.Lys5753Arg) rs2153754800
NM_001164508.2(NEB):c.17277G>C (p.Gln5759His)
NM_001164508.2(NEB):c.17281C>G (p.Pro5761Ala) rs2153753928
NM_001164508.2(NEB):c.17297C>T (p.Ser5766Phe) rs745836611
NM_001164508.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001164508.2(NEB):c.17333G>A (p.Ser5778Asn) rs2153752911
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.17367G>C (p.Trp5789Cys)
NM_001164508.2(NEB):c.17373C>T (p.Cys5791=)
NM_001164508.2(NEB):c.17377C>T (p.Pro5793Ser)
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr) rs1262861131
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del) rs1553787578
NM_001164508.2(NEB):c.17408A>C (p.Lys5803Thr)
NM_001164508.2(NEB):c.1741C>T (p.Pro581Ser)
NM_001164508.2(NEB):c.17452G>C (p.Glu5818Gln) rs1193153766
NM_001164508.2(NEB):c.17468T>C (p.Ile5823Thr) rs768866431
NM_001164508.2(NEB):c.17479C>T (p.Pro5827Ser) rs1560050173
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met) rs772168965
NM_001164508.2(NEB):c.17498T>C (p.Val5833Ala)
NM_001164508.2(NEB):c.1750G>T (p.Ala584Ser)
NM_001164508.2(NEB):c.17535+3A>G rs1553784210
NM_001164508.2(NEB):c.17536-3T>C
NM_001164508.2(NEB):c.17543A>G (p.Tyr5848Cys) rs1577949283
NM_001164508.2(NEB):c.17546G>T (p.Arg5849Leu)
NM_001164508.2(NEB):c.1754C>T (p.Ala585Val) rs2099581852
NM_001164508.2(NEB):c.1756A>G (p.Lys586Glu) rs1576598655
NM_001164508.2(NEB):c.175C>G (p.Gln59Glu) rs867732907
NM_001164508.2(NEB):c.17608A>C (p.Lys5870Gln)
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=) rs767518298
NM_001164508.2(NEB):c.17627T>C (p.Leu5876Pro) rs1181510782
NM_001164508.2(NEB):c.17629G>T (p.Asp5877Tyr)
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser) rs2099581808
NM_001164508.2(NEB):c.17647A>C (p.Lys5883Gln)
NM_001164508.2(NEB):c.17648A>G (p.Lys5883Arg)
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>G (p.Leu5894Arg)
NM_001164508.2(NEB):c.17690C>G (p.Thr5897Ser)
NM_001164508.2(NEB):c.17705C>T (p.Thr5902Ile)
NM_001164508.2(NEB):c.17708C>T (p.Ala5903Val) rs2153745118
NM_001164508.2(NEB):c.17724G>C (p.Arg5908Ser)
NM_001164508.2(NEB):c.17738A>G (p.Tyr5913Cys) rs2096492304
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
NM_001164508.2(NEB):c.1778G>A (p.Ser593Asn) rs2099581746
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+4_1782+5del rs398124168
NM_001164508.2(NEB):c.1782+5G>A
NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)
NM_001164508.2(NEB):c.17845-3C>G rs2153740439
NM_001164508.2(NEB):c.17848A>G (p.Lys5950Glu)
NM_001164508.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
NM_001164508.2(NEB):c.17872C>A (p.Gln5958Lys)
NM_001164508.2(NEB):c.17896C>G (p.Pro5966Ala) rs2096453351
NM_001164508.2(NEB):c.17903T>A (p.Met5968Lys)
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.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.17948T>G (p.Ile5983Ser)
NM_001164508.2(NEB):c.17965T>A (p.Tyr5989Asn) rs752113075
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp) rs764985237
NM_001164508.2(NEB):c.17999T>A (p.Ile6000Asn)
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg) rs2096449520
NM_001164508.2(NEB):c.1800C>A (p.Asp600Glu)
NM_001164508.2(NEB):c.18034G>A (p.Ala6012Thr)
NM_001164508.2(NEB):c.18037A>C (p.Lys6013Gln) rs2096448727
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.1806A>T (p.Glu602Asp)
NM_001164508.2(NEB):c.18070T>G (p.Tyr6024Asp)
NM_001164508.2(NEB):c.18080A>G (p.Tyr6027Cys)
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile) rs764679933
NM_001164508.2(NEB):c.18106G>C (p.Asp6036His)
NM_001164508.2(NEB):c.1810A>G (p.Asn604Asp)
NM_001164508.2(NEB):c.18110A>G (p.Gln6037Arg)
NM_001164508.2(NEB):c.18122T>C (p.Ile6041Thr) rs2096445948
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.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.18160G>A (p.Val6054Ile) rs975134897
NM_001164508.2(NEB):c.18161T>C (p.Val6054Ala) rs1362288800
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
NM_001164508.2(NEB):c.18191G>T (p.Gly6064Val)
NM_001164508.2(NEB):c.18194T>C (p.Ile6065Thr)
NM_001164508.2(NEB):c.1824G>A (p.Met608Ile)
NM_001164508.2(NEB):c.18261+19_18261+21del rs1319324645
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.18262-3C>T
NM_001164508.2(NEB):c.182C>G (p.Ala61Gly) rs2099795617
NM_001164508.2(NEB):c.18302T>C (p.Phe6101Ser) rs2153729845
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.18327G>T (p.Glu6109Asp) rs2096323303
NM_001164508.2(NEB):c.18374A>G (p.Tyr6125Cys) rs2096294914
NM_001164508.2(NEB):c.18376A>G (p.Lys6126Glu)
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.18416C>T (p.Ser6139Leu) rs2153726853
NM_001164508.2(NEB):c.18422A>T (p.Asp6141Val)
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys) rs377179553
NM_001164508.2(NEB):c.18436T>C (p.Ser6146Pro) rs1231291915
NM_001164508.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001164508.2(NEB):c.1849G>A (p.Asp617Asn)
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.18523G>A (p.Asp6175Asn)
NM_001164508.2(NEB):c.18538C>T (p.Pro6180Ser)
NM_001164508.2(NEB):c.18541A>T (p.Ile6181Phe)
NM_001164508.2(NEB):c.18559G>A (p.Ala6187Thr) rs994460843
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.18596C>T (p.Thr6199Ile) rs1331648772
NM_001164508.2(NEB):c.18603G>C (p.Glu6201Asp)
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly) rs753261774
NM_001164508.2(NEB):c.18683T>A (p.Met6228Lys)
NM_001164508.2(NEB):c.18693+5G>C rs377482159
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.18701A>G (p.Tyr6234Cys)
NM_001164508.2(NEB):c.18724A>G (p.Lys6242Glu) rs886054937
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.18787A>G (p.Ile6263Val)
NM_001164508.2(NEB):c.18804G>C (p.Glu6268Asp)
NM_001164508.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His) rs921387109
NM_001164508.2(NEB):c.18823C>A (p.Gln6275Lys)
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.18847C>T (p.Pro6283Ser)
NM_001164508.2(NEB):c.18862G>T (p.Val6288Phe)
NM_001164508.2(NEB):c.18872C>T (p.Ala6291Val)
NM_001164508.2(NEB):c.18893A>G (p.Asn6298Ser) rs781054657
NM_001164508.2(NEB):c.18893A>T (p.Asn6298Ile)
NM_001164508.2(NEB):c.18908A>C (p.Asp6303Ala)
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001164508.2(NEB):c.18940G>A (p.Val6314Ile) rs764044045
NM_001164508.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001164508.2(NEB):c.1896+4_1896+5del
NM_001164508.2(NEB):c.18962T>A (p.Leu6321His)
NM_001164508.2(NEB):c.19001A>T (p.Gln6334Leu)
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.19064A>G (p.Tyr6355Cys) rs968608271
NM_001164508.2(NEB):c.19075G>C (p.Val6359Leu)
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.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.19102G>A (p.Val6368Ile)
NM_001164508.2(NEB):c.19117A>T (p.Asn6373Tyr)
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001164508.2(NEB):c.19144A>G (p.Thr6382Ala)
NM_001164508.2(NEB):c.19162G>A (p.Val6388Met) rs2096008692
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001164508.2(NEB):c.19207-20_19207-18del rs768751352
NM_001164508.2(NEB):c.19211T>C (p.Leu6404Pro)
NM_001164508.2(NEB):c.19223C>T (p.Ala6408Val)
NM_001164508.2(NEB):c.19234G>T (p.Val6412Leu) rs2095980616
NM_001164508.2(NEB):c.1925C>A (p.Thr642Lys)
NM_001164508.2(NEB):c.19284C>G (p.His6428Gln) rs201005449
NM_001164508.2(NEB):c.19286C>T (p.Ala6429Val)
NM_001164508.2(NEB):c.19301A>C (p.His6434Pro) rs1577553776
NM_001164508.2(NEB):c.19315-3T>C rs756491764
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly) rs2153666324
NM_001164508.2(NEB):c.19357A>G (p.Thr6453Ala) rs968182845
NM_001164508.2(NEB):c.19382_19383delinsTG (p.Asp6461Val)
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
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.19428+8C>A rs773614835
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.19686T>G (p.Thr6562=) rs886054934
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.19736A>G (p.Lys6579Arg)
NM_001164508.2(NEB):c.19739A>G (p.Tyr6580Cys) rs2095414762
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr) rs190605644
NM_001164508.2(NEB):c.19756A>G (p.Lys6586Glu) rs2153653983
NM_001164508.2(NEB):c.19763G>A (p.Arg6588Lys)
NM_001164508.2(NEB):c.19799A>T (p.Tyr6600Phe) rs2095412773
NM_001164508.2(NEB):c.19814A>G (p.Lys6605Arg) rs2095412206
NM_001164508.2(NEB):c.19826A>T (p.Gln6609Leu) rs1553730155
NM_001164508.2(NEB):c.19836+6T>C rs2153653644
NM_001164508.2(NEB):c.19837-2A>G
NM_001164508.2(NEB):c.19868T>G (p.Val6623Gly)
NM_001164508.2(NEB):c.19903G>T (p.Asp6635Tyr) rs534519331
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.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>G (p.His6641Gln) rs773870323
NM_001164508.2(NEB):c.19934T>G (p.Leu6645Arg)
NM_001164508.2(NEB):c.19944+6_19944+12del rs2153647219
NM_001164508.2(NEB):c.19945-3C>G rs1206840358
NM_001164508.2(NEB):c.19976C>G (p.Pro6659Arg) rs2153633083
NM_001164508.2(NEB):c.20003C>G (p.Thr6668Ser) rs2153632972
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro) rs763237724
NM_001164508.2(NEB):c.20021_20023del (p.Ile6674del) rs1577105410
NM_001164508.2(NEB):c.20038A>G (p.Met6680Val) rs1265237421
NM_001164508.2(NEB):c.20044A>G (p.Ser6682Gly)
NM_001164508.2(NEB):c.20050-3C>T
NM_001164508.2(NEB):c.20056T>C (p.Tyr6686His) rs2153624429
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
NM_001164508.2(NEB):c.20108A>G (p.Lys6703Arg)
NM_001164508.2(NEB):c.2011G>C (p.Asp671His)
NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20165A>T (p.Tyr6722Phe) rs2153618365
NM_001164508.2(NEB):c.2017T>C (p.Tyr673His)
NM_001164508.2(NEB):c.20191G>T (p.Asp6731Tyr)
NM_001164508.2(NEB):c.20195A>G (p.Lys6732Arg)
NM_001164508.2(NEB):c.20216C>T (p.Thr6739Ile)
NM_001164508.2(NEB):c.20220T>A (p.Pro6740=)
NM_001164508.2(NEB):c.20241G>T (p.Lys6747Asn) rs2153617719
NM_001164508.2(NEB):c.20302A>G (p.Met6768Val) rs780579848
NM_001164508.2(NEB):c.20308T>C (p.Ser6770Pro)
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001164508.2(NEB):c.20323C>T (p.Pro6775Ser)
NM_001164508.2(NEB):c.20327A>G (p.Gln6776Arg) rs1377556613
NM_001164508.2(NEB):c.20351G>C (p.Gly6784Ala)
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala) rs1028441065
NM_001164508.2(NEB):c.20367+13T>G
NM_001164508.2(NEB):c.20367+3A>G
NM_001164508.2(NEB):c.20369T>A (p.Ile6790Asn)
NM_001164508.2(NEB):c.20384A>G (p.Asp6795Gly)
NM_001164508.2(NEB):c.20385C>G (p.Asp6795Glu) rs2153608107
NM_001164508.2(NEB):c.2038C>A (p.His680Asn) rs773702715
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
NM_001164508.2(NEB):c.20407G>A (p.Gly6803Ser)
NM_001164508.2(NEB):c.20437G>T (p.Val6813Phe)
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
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+5G>C rs2094687409
NM_001164508.2(NEB):c.20467-3A>G rs1463738651
NM_001164508.2(NEB):c.2056G>A (p.Glu686Lys)
NM_001164508.2(NEB):c.20578-6G>A rs376710012
NM_001164508.2(NEB):c.20591C>T (p.Ala6864Val)
NM_001164508.2(NEB):c.20606A>T (p.Gln6869Leu)
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.20653G>T (p.Ala6885Ser) rs1201503713
NM_001164508.2(NEB):c.20670G>C (p.Lys6890Asn) rs768041857
NM_001164508.2(NEB):c.20692G>A (p.Val6898Ile)
NM_001164508.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001164508.2(NEB):c.20719C>T (p.His6907Tyr)
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.20728G>T (p.Ala6910Ser)
NM_001164508.2(NEB):c.20752A>C (p.Lys6918Gln)
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr) rs2093931355
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.20776A>G (p.Met6926Val) rs1559707924
NM_001164508.2(NEB):c.2080A>C (p.Met694Leu)
NM_001164508.2(NEB):c.20822A>G (p.Asp6941Gly)
NM_001164508.2(NEB):c.20827T>C (p.Tyr6943His)
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val) rs1168345348
NM_001164508.2(NEB):c.20863G>A (p.Ala6955Thr) rs2153567154
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.20894T>A (p.Leu6965Gln) rs1239615497
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001164508.2(NEB):c.20928G>T (p.Gly6976=)
NM_001164508.2(NEB):c.20933A>G (p.Tyr6978Cys) rs761780939
NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr) rs1383294380
NM_001164508.2(NEB):c.20974A>G (p.Lys6992Glu)
NM_001164508.2(NEB):c.2098A>G (p.Asn700Asp)
NM_001164508.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001164508.2(NEB):c.21021G>A (p.Met7007Ile)
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001164508.2(NEB):c.21037T>G (p.Trp7013Gly) rs2153551039
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
NM_001164508.2(NEB):c.2106+3A>C rs1553589058
NM_001164508.2(NEB):c.2107A>G (p.Lys703Glu)
NM_001164508.2(NEB):c.21094G>C (p.Val7032Leu)
NM_001164508.2(NEB):c.21097A>C (p.Ser7033Arg)
NM_001164508.2(NEB):c.21102+5G>A
NM_001164508.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001164508.2(NEB):c.21115G>C (p.Glu7039Gln)
NM_001164508.2(NEB):c.2111G>A (p.Ser704Asn)
NM_001164508.2(NEB):c.21194C>T (p.Thr7065Ile)
NM_001164508.2(NEB):c.21197T>C (p.Leu7066Pro)
NM_001164508.2(NEB):c.21207+4T>C
NM_001164508.2(NEB):c.21207+6T>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.21221A>G (p.Glu7074Gly) rs1190090108
NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys) rs1553587676
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.21287A>G (p.Lys7096Arg)
NM_001164508.2(NEB):c.2128G>A (p.Glu710Lys)
NM_001164508.2(NEB):c.21296C>G (p.Thr7099Ser)
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu) rs1359338282
NM_001164508.2(NEB):c.2141G>A (p.Gly714Glu)
NM_001164508.2(NEB):c.214A>G (p.Ile72Val) rs1553698165
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.2161A>G (p.Thr721Ala)
NM_001164508.2(NEB):c.2164A>G (p.Ile722Val)
NM_001164508.2(NEB):c.2182G>A (p.Ala728Thr) rs1187124982
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.2216C>A (p.Thr739Asn) rs2099542868
NM_001164508.2(NEB):c.2230C>T (p.Pro744Ser)
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly) rs1436329266
NM_001164508.2(NEB):c.2240C>A (p.Thr747Asn)
NM_001164508.2(NEB):c.2243A>G (p.Lys748Arg)
NM_001164508.2(NEB):c.2263T>C (p.Ser755Pro)
NM_001164508.2(NEB):c.2272C>A (p.Leu758Met) rs866369010
NM_001164508.2(NEB):c.230A>G (p.Asp77Gly)
NM_001164508.2(NEB):c.2310T>C (p.Asp770=)
NM_001164508.2(NEB):c.2348A>G (p.Lys783Arg) rs2099519230
NM_001164508.2(NEB):c.2353C>A (p.His785Asn) rs2099519209
NM_001164508.2(NEB):c.2368_2370dup (p.Ala790dup) rs2148990366
NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg)
NM_001164508.2(NEB):c.2390G>T (p.Arg797Ile)
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del) rs1553711235
NM_001164508.2(NEB):c.2415+2dup rs1553567814
NM_001164508.2(NEB):c.2415+6T>C rs760614044
NM_001164508.2(NEB):c.2432A>T (p.Asp811Val) rs896028175
NM_001164508.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001164508.2(NEB):c.2456A>G (p.Lys819Arg)
NM_001164508.2(NEB):c.2477C>T (p.Ala826Val)
NM_001164508.2(NEB):c.2479A>G (p.Ile827Val)
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val) rs2099513616
NM_001164508.2(NEB):c.2523+6T>C rs2099513341
NM_001164508.2(NEB):c.2542T>C (p.Tyr848His)
NM_001164508.2(NEB):c.254A>G (p.Tyr85Cys) rs1201662596
NM_001164508.2(NEB):c.2552G>A (p.Ser851Asn)
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.2581A>G (p.Ile861Val) rs755695934
NM_001164508.2(NEB):c.2586T>A (p.Asn862Lys)
NM_001164508.2(NEB):c.25G>A (p.Glu9Lys) rs2151148401
NM_001164508.2(NEB):c.2609C>T (p.Ser870Phe) rs896068588
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
NM_001164508.2(NEB):c.2624A>G (p.Lys875Arg)
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu) rs373892420
NM_001164508.2(NEB):c.2637+3G>C
NM_001164508.2(NEB):c.2659G>A (p.Glu887Lys) rs1553558398
NM_001164508.2(NEB):c.2678A>G (p.Tyr893Cys)
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
NM_001164508.2(NEB):c.2681C>T (p.Thr894Met)
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser) rs2099480203
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+5G>C rs2148837364
NM_001164508.2(NEB):c.2866A>T (p.Met956Leu)
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del) rs766232587
NM_001164508.2(NEB):c.2881T>C (p.Trp961Arg)
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.2921G>T (p.Arg974Leu) rs368642083
NM_001164508.2(NEB):c.2942A>G (p.Glu981Gly) rs1225494274
NM_001164508.2(NEB):c.2943+5dup rs2099429370
NM_001164508.2(NEB):c.2957A>G (p.Gln986Arg) rs781465553
NM_001164508.2(NEB):c.296A>T (p.Asn99Ile)
NM_001164508.2(NEB):c.2975A>T (p.Lys992Met)
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr) rs753691207
NM_001164508.2(NEB):c.2998C>G (p.Pro1000Ala) rs763910385
NM_001164508.2(NEB):c.3022A>G (p.Asn1008Asp) rs1576128802
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro) rs770003609
NM_001164508.2(NEB):c.3042+3_3042+6del rs2099408346
NM_001164508.2(NEB):c.3047C>T (p.Ala1016Val) rs2148609477
NM_001164508.2(NEB):c.3071T>C (p.Ile1024Thr)
NM_001164508.2(NEB):c.3098A>G (p.Asp1033Gly)
NM_001164508.2(NEB):c.3101T>C (p.Leu1034Pro)
NM_001164508.2(NEB):c.3103C>T (p.Pro1035Ser)
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3147+5G>T
NM_001164508.2(NEB):c.3148-3C>A
NM_001164508.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001164508.2(NEB):c.3165C>G (p.Asp1055Glu)
NM_001164508.2(NEB):c.3183G>C (p.Lys1061Asn)
NM_001164508.2(NEB):c.3190T>A (p.Tyr1064Asn) rs2148596836
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.3218_3226dup (p.Ala1075_Ala1076insValArgAla) rs1553539039
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.3253G>A (p.Asp1085Asn) rs2099400725
NM_001164508.2(NEB):c.3286A>G (p.Lys1096Glu)
NM_001164508.2(NEB):c.3320A>T (p.Asp1107Val)
NM_001164508.2(NEB):c.3352G>T (p.Ala1118Ser) rs1225381477
NM_001164508.2(NEB):c.3359T>C (p.Ile1120Thr)
NM_001164508.2(NEB):c.3362A>G (p.Gln1121Arg) rs1559152642
NM_001164508.2(NEB):c.3397A>G (p.Thr1133Ala) rs1294520829
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.3443C>A (p.Ala1148Glu) rs200637566
NM_001164508.2(NEB):c.3445G>T (p.Ala1149Ser) rs752178904
NM_001164508.2(NEB):c.3474T>G (p.Asn1158Lys)
NM_001164508.2(NEB):c.3500A>G (p.His1167Arg) rs2154210444
NM_001164508.2(NEB):c.352G>T (p.Asp118Tyr)
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001164508.2(NEB):c.3551T>C (p.Met1184Thr) rs1308063415
NM_001164508.2(NEB):c.3567+3_3567+6del rs1553534336
NM_001164508.2(NEB):c.3568-15_3568-14insGCCCTCACTCCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_001164508.2(NEB):c.36+2dup
NM_001164508.2(NEB):c.36+4A>G
NM_001164508.2(NEB):c.3616A>G (p.Ile1206Val)
NM_001164508.2(NEB):c.3630T>G (p.Ser1210Arg)
NM_001164508.2(NEB):c.3649A>G (p.Lys1217Glu)
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
NM_001164508.2(NEB):c.3664G>T (p.Ala1222Ser)
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.3681G>T (p.Lys1227Asn)
NM_001164508.2(NEB):c.3694C>G (p.Pro1232Ala) rs776796255
NM_001164508.2(NEB):c.3698A>G (p.Asp1233Gly)
NM_001164508.2(NEB):c.3700A>G (p.Thr1234Ala)
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile) rs1311528896
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.3724G>A (p.Asp1242Asn)
NM_001164508.2(NEB):c.3728C>T (p.Ser1243Phe)
NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) rs1553531184
NM_001164508.2(NEB):c.3774+4A>C rs1026503983
NM_001164508.2(NEB):c.3776T>C (p.Ile1259Thr) rs1553522143
NM_001164508.2(NEB):c.3786G>T (p.Lys1262Asn)
NM_001164508.2(NEB):c.3788C>A (p.Ala1263Asp) rs1575886894
NM_001164508.2(NEB):c.3795AGA[1] (p.Glu1266del) rs1553522046
NM_001164508.2(NEB):c.37T>C (p.Tyr13His)
NM_001164508.2(NEB):c.3807A>C (p.Lys1269Asn)
NM_001164508.2(NEB):c.3815A>G (p.Tyr1272Cys) rs925465070
NM_001164508.2(NEB):c.3853A>G (p.Lys1285Glu)
NM_001164508.2(NEB):c.3862G>A (p.Ala1288Thr) rs775943165
NM_001164508.2(NEB):c.3869A>G (p.Asn1290Ser)
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3879+2dup rs2099350895
NM_001164508.2(NEB):c.3879C>T (p.Asp1293=)
NM_001164508.2(NEB):c.3896A>T (p.Asp1299Val)
NM_001164508.2(NEB):c.3910A>G (p.Ile1304Val)
NM_001164508.2(NEB):c.3918G>T (p.Lys1306Asn)
NM_001164508.2(NEB):c.3938A>G (p.Asp1313Gly) rs2154198103
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.4010A>G (p.Glu1337Gly) rs921890762
NM_001164508.2(NEB):c.4016C>T (p.Ser1339Leu)
NM_001164508.2(NEB):c.401A>G (p.Glu134Gly) rs2150794998
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.4034G>A (p.Gly1345Asp)
NM_001164508.2(NEB):c.4042A>G (p.Ser1348Gly)
NM_001164508.2(NEB):c.4073A>G (p.Tyr1358Cys) rs1223706560
NM_001164508.2(NEB):c.4100A>T (p.Asp1367Val)
NM_001164508.2(NEB):c.4119C>A (p.Asn1373Lys) rs377653217
NM_001164508.2(NEB):c.4144C>G (p.His1382Asp) rs2099313352
NM_001164508.2(NEB):c.4153G>C (p.Gly1385Arg)
NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr) rs760822809
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
NM_001164508.2(NEB):c.4192G>T (p.Asp1398Tyr)
NM_001164508.2(NEB):c.4214A>G (p.Tyr1405Cys)
NM_001164508.2(NEB):c.422G>A (p.Gly141Asp) rs973669056
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln) rs2099312411
NM_001164508.2(NEB):c.4264G>C (p.Glu1422Gln) rs921972170
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.4298A>C (p.Asp1433Ala)
NM_001164508.2(NEB):c.4300-3C>T rs2154190807
NM_001164508.2(NEB):c.4325G>T (p.Ser1442Ile)
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.4339A>G (p.Ile1447Val)
NM_001164508.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala) rs918736685
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
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.4439A>C (p.Lys1480Thr)
NM_001164508.2(NEB):c.4448G>A (p.Ser1483Asn) rs1417148362
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.4498C>T (p.Leu1500=)
NM_001164508.2(NEB):c.4506+4A>G
NM_001164508.2(NEB):c.4507-3del rs767772701
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.4568C>T (p.Pro1523Leu)
NM_001164508.2(NEB):c.4583C>T (p.Ala1528Val) rs1023227996
NM_001164508.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001164508.2(NEB):c.4603A>G (p.Met1535Val)
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=) rs2099254265
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp) rs2099240158
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
NM_001164508.2(NEB):c.4694A>C (p.Lys1565Thr)
NM_001164508.2(NEB):c.4703G>A (p.Arg1568Lys)
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.476A>G (p.His159Arg)
NM_001164508.2(NEB):c.4775G>C (p.Ser1592Thr)
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.4819A>G (p.Lys1607Glu)
NM_001164508.2(NEB):c.481A>G (p.Lys161Glu) rs1440684786
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.4843A>G (p.Lys1615Glu) rs1237432906
NM_001164508.2(NEB):c.4847A>G (p.Lys1616Arg)
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys) rs759773612
NM_001164508.2(NEB):c.4868C>G (p.Thr1623Ser)
NM_001164508.2(NEB):c.4880C>T (p.Thr1627Ile) rs1651215974
NM_001164508.2(NEB):c.4934C>A (p.Thr1645Asn)
NM_001164508.2(NEB):c.4937A>G (p.Asn1646Ser)
NM_001164508.2(NEB):c.4938C>A (p.Asn1646Lys)
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.4960C>A (p.His1654Asn) rs2154178833
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg) rs2099214775
NM_001164508.2(NEB):c.4970C>G (p.Thr1657Ser)
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
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.499G>C (p.Val167Leu)
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.5030A>G (p.Asp1677Gly)
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164508.2(NEB):c.5039_5044del (p.Tyr1680_Lys1681del) rs1300563797
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser) rs764638678
NM_001164508.2(NEB):c.5075G>T (p.Gly1692Val)
NM_001164508.2(NEB):c.508-6G>A rs374227241
NM_001164508.2(NEB):c.5104G>A (p.Glu1702Lys)
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.5140AAG[1] (p.Lys1715del) rs1553492424
NM_001164508.2(NEB):c.5150G>T (p.Arg1717Leu) rs747091795
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001164508.2(NEB):c.5211_5213del (p.Asn1737del) rs1553491789
NM_001164508.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001164508.2(NEB):c.5238+1G>A
NM_001164508.2(NEB):c.5239A>G (p.Arg1747Gly) rs1272476034
NM_001164508.2(NEB):c.5257T>C (p.Trp1753Arg)
NM_001164508.2(NEB):c.5261A>G (p.Asn1754Ser)
NM_001164508.2(NEB):c.5264A>T (p.Lys1755Met)
NM_001164508.2(NEB):c.5279T>G (p.Ile1760Ser)
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.5304T>A (p.Asp1768Glu)
NM_001164508.2(NEB):c.5311C>T (p.Leu1771Phe)
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.5345A>C (p.Lys1782Thr)
NM_001164508.2(NEB):c.5348T>C (p.Leu1783Pro)
NM_001164508.2(NEB):c.5365G>A (p.Glu1789Lys) rs774196513
NM_001164508.2(NEB):c.5395A>C (p.Arg1799=) rs2099187669
NM_001164508.2(NEB):c.5403T>G (p.Asp1801Glu)
NM_001164508.2(NEB):c.5405C>A (p.Ala1802Asp)
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.5432C>G (p.Ser1811Cys)
NM_001164508.2(NEB):c.5436A>C (p.Arg1812Ser)
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn) rs2099187269
NM_001164508.2(NEB):c.5444C>G (p.Ala1815Gly) rs767491081
NM_001164508.2(NEB):c.5451T>C (p.Asp1817=)
NM_001164508.2(NEB):c.5467G>T (p.Ala1823Ser) rs2099173290
NM_001164508.2(NEB):c.54_56dup (p.Val19dup) rs1553702754
NM_001164508.2(NEB):c.5515G>A (p.Asp1839Asn) rs2099172820
NM_001164508.2(NEB):c.5525A>G (p.Lys1842Arg) rs2099172694
NM_001164508.2(NEB):c.5535C>G (p.His1845Gln)
NM_001164508.2(NEB):c.5555T>C (p.Met1852Thr) rs144180493
NM_001164508.2(NEB):c.5558A>C (p.Gln1853Pro) rs748760784
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001164508.2(NEB):c.5587G>A (p.Glu1863Lys)
NM_001164508.2(NEB):c.5596A>G (p.Lys1866Glu)
NM_001164508.2(NEB):c.5612C>A (p.Thr1871Asn) rs753865894
NM_001164508.2(NEB):c.5630G>T (p.Ser1877Ile)
NM_001164508.2(NEB):c.5641_5642delinsAG (p.Ala1881Ser) rs2154172447
NM_001164508.2(NEB):c.5669A>T (p.Asn1890Ile)
NM_001164508.2(NEB):c.5678A>G (p.Tyr1893Cys)
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5682G>C (p.Arg1894Ser)
NM_001164508.2(NEB):c.5683A>C (p.Asn1895His)
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.5717C>T (p.Ala1906Val) rs2099170735
NM_001164508.2(NEB):c.5719A>G (p.Met1907Val)
NM_001164508.2(NEB):c.5720T>G (p.Met1907Arg)
NM_001164508.2(NEB):c.5754T>G (p.Ile1918Met)
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.5806G>A (p.Gly1936Arg) rs997951612
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu) rs1486289467
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.5843A>T (p.Asn1948Ile) rs2154168814
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.5895C>A (p.Asp1965Glu)
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
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.5945A>C (p.Gln1982Pro) rs1212716508
NM_001164508.2(NEB):c.5973T>A (p.His1991Gln)
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.5992G>C (p.Glu1998Gln)
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.6046G>C (p.Ala2016Pro) rs1558927613
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys) rs1553687045
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6077A>G (p.Lys2026Arg)
NM_001164508.2(NEB):c.6080T>A (p.Leu2027His)
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.6127A>G (p.Arg2043Gly) rs1321911647
NM_001164508.2(NEB):c.6143C>T (p.Pro2048Leu)
NM_001164508.2(NEB):c.6179G>T (p.Ser2060Ile)
NM_001164508.2(NEB):c.617T>G (p.Leu206Arg)
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1]) rs767681176
NM_001164508.2(NEB):c.6226G>A (p.Val2076Ile)
NM_001164508.2(NEB):c.6241C>T (p.Leu2081Phe)
NM_001164508.2(NEB):c.6242T>G (p.Leu2081Arg) rs2099085781
NM_001164508.2(NEB):c.6254C>T (p.Pro2085Leu) rs773025267
NM_001164508.2(NEB):c.6263T>C (p.Val2088Ala)
NM_001164508.2(NEB):c.6271A>C (p.Met2091Leu)
NM_001164508.2(NEB):c.6288G>A (p.Met2096Ile) rs2154149119
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001164508.2(NEB):c.6323A>G (p.Asn2108Ser) rs1558891493
NM_001164508.2(NEB):c.6340C>T (p.His2114Tyr)
NM_001164508.2(NEB):c.6355A>G (p.Met2119Val)
NM_001164508.2(NEB):c.6394A>G (p.Ile2132Val) rs755394940
NM_001164508.2(NEB):c.6403A>G (p.Thr2135Ala)
NM_001164508.2(NEB):c.6430T>G (p.Tyr2144Asp)
NM_001164508.2(NEB):c.6455A>G (p.Asn2152Ser)
NM_001164508.2(NEB):c.6467C>G (p.Thr2156Ser)
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.64G>A (p.Glu22Lys) rs2150994058
NM_001164508.2(NEB):c.6502T>C (p.Tyr2168His)
NM_001164508.2(NEB):c.6547C>A (p.Pro2183Thr)
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val) rs373439650
NM_001164508.2(NEB):c.6568G>A (p.Glu2190Lys) rs2099082027
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.6598A>G (p.Ser2200Gly) rs1553462412
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.6660G>A (p.Met2220Ile) rs199766131
NM_001164508.2(NEB):c.6679C>G (p.Gln2227Glu)
NM_001164508.2(NEB):c.6695T>A (p.Met2232Lys)
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.6730G>A (p.Asp2244Asn)
NM_001164508.2(NEB):c.6778G>A (p.Ala2260Thr)
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.6828G>C (p.Trp2276Cys) rs2099059984
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp) rs1363435897
NM_001164508.2(NEB):c.6851A>C (p.Tyr2284Ser) rs778637750
NM_001164508.2(NEB):c.6867_6869dup (p.Ala2290_Ile2291insAla)
NM_001164508.2(NEB):c.6873T>G (p.Ile2291Met) rs1265000238
NM_001164508.2(NEB):c.6884T>C (p.Leu2295Pro) rs2099059670
NM_001164508.2(NEB):c.6914A>T (p.Asp2305Val)
NM_001164508.2(NEB):c.6916-16_6916-8del rs2099021798
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.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.6946C>G (p.Leu2316Val)
NM_001164508.2(NEB):c.6954C>G (p.His2318Gln)
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.6999G>T (p.Leu2333Phe)
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.7033G>C (p.Glu2345Gln)
NM_001164508.2(NEB):c.7039A>G (p.Lys2347Glu)
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
NM_001164508.2(NEB):c.709C>T (p.Leu237Phe)
NM_001164508.2(NEB):c.7102C>G (p.Leu2368Val) rs1553449170
NM_001164508.2(NEB):c.7120_7122dup (p.Glu2374dup) rs1553449134
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001164508.2(NEB):c.7144A>G (p.Lys2382Glu)
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.7176T>C (p.Pro2392=) rs1042667385
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.7207G>C (p.Val2403Leu)
NM_001164508.2(NEB):c.7228-3C>G rs577996029
NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys) rs1575122611
NM_001164508.2(NEB):c.7265T>G (p.Ile2422Arg)
NM_001164508.2(NEB):c.727A>G (p.Lys243Glu)
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg) rs1031592589
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.7339T>C (p.Tyr2447His)
NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys) rs1057518861
NM_001164508.2(NEB):c.7369A>C (p.Thr2457Pro)
NM_001164508.2(NEB):c.7372A>G (p.Ser2458Gly)
NM_001164508.2(NEB):c.7373_7374delinsAA (p.Ser2458Lys)
NM_001164508.2(NEB):c.7421A>C (p.Asn2474Thr)
NM_001164508.2(NEB):c.7434A>C (p.Arg2478Ser)
NM_001164508.2(NEB):c.7434A>T (p.Arg2478Ser)
NM_001164508.2(NEB):c.7469A>C (p.Gln2490Pro) rs1446110323
NM_001164508.2(NEB):c.7487A>G (p.Asp2496Gly) rs767734665
NM_001164508.2(NEB):c.74G>A (p.Gly25Glu)
NM_001164508.2(NEB):c.751G>C (p.Ala251Pro)
NM_001164508.2(NEB):c.7523T>C (p.Ile2508Thr)
NM_001164508.2(NEB):c.752C>G (p.Ala251Gly)
NM_001164508.2(NEB):c.7537-3C>A rs886054946
NM_001164508.2(NEB):c.7538A>G (p.Lys2513Arg) rs190059793
NM_001164508.2(NEB):c.7543T>C (p.Tyr2515His)
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
NM_001164508.2(NEB):c.7569G>C (p.Lys2523Asn)
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
NM_001164508.2(NEB):c.7603C>A (p.Pro2535Thr)
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
NM_001164508.2(NEB):c.7645-14T>C rs886054945
NM_001164508.2(NEB):c.7645-6dup
NM_001164508.2(NEB):c.7646A>G (p.Tyr2549Cys) rs1553984101
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001164508.2(NEB):c.7667G>A (p.Arg2556His)
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu)
NM_001164508.2(NEB):c.7679G>T (p.Gly2560Val)
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
NM_001164508.2(NEB):c.7697G>C (p.Arg2566Pro)
NM_001164508.2(NEB):c.7706A>C (p.Glu2569Ala)
NM_001164508.2(NEB):c.7710T>A (p.Asp2570Glu)
NM_001164508.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001164508.2(NEB):c.7733T>C (p.Met2578Thr)
NM_001164508.2(NEB):c.7740G>A (p.Val2580=) rs2098921464
NM_001164508.2(NEB):c.7751A>G (p.Gln2584Arg)
NM_001164508.2(NEB):c.7762G>A (p.Glu2588Lys) rs756738995
NM_001164508.2(NEB):c.7769A>G (p.Lys2590Arg)
NM_001164508.2(NEB):c.776C>T (p.Pro259Leu)
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser) rs1425616065
NM_001164508.2(NEB):c.7802G>A (p.Ser2601Asn)
NM_001164508.2(NEB):c.7837_7839delinsCAC (p.Lys2613His)
NM_001164508.2(NEB):c.7844G>T (p.Cys2615Phe) rs749508488
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.7882C>G (p.Leu2628Val) rs1222037893
NM_001164508.2(NEB):c.78G>A (p.Glu26=) rs1553702617
NM_001164508.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn) rs1574937918
NM_001164508.2(NEB):c.7915G>A (p.Asp2639Asn)
NM_001164508.2(NEB):c.7925A>G (p.His2642Arg)
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp)
NM_001164508.2(NEB):c.7945C>T (p.Leu2649Phe)
NM_001164508.2(NEB):c.7956+4A>G rs886054944
NM_001164508.2(NEB):c.7957-13C>G
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.7968G>C (p.Lys2656Asn)
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys) rs756956766
NM_001164508.2(NEB):c.7993A>T (p.Ile2665Phe) rs2098910017
NM_001164508.2(NEB):c.8027A>G (p.Glu2676Gly) rs2154114705
NM_001164508.2(NEB):c.8029A>G (p.Lys2677Glu)
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu) rs549227905
NM_001164508.2(NEB):c.8047C>A (p.Gln2683Lys) rs2154114662
NM_001164508.2(NEB):c.8101A>G (p.Ser2701Gly) rs2098908042
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala) rs2098907855
NM_001164508.2(NEB):c.8111A>T (p.Asp2704Val)
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val) rs1574917037
NM_001164508.2(NEB):c.8159A>C (p.His2720Pro)
NM_001164508.2(NEB):c.8161C>A (p.Arg2721Ser)
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001164508.2(NEB):c.8171C>T (p.Thr2724Ile)
NM_001164508.2(NEB):c.8190T>A (p.Asp2730Glu)
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.8219C>A (p.Thr2740Asn)
NM_001164508.2(NEB):c.8219C>T (p.Thr2740Ile) rs763429938
NM_001164508.2(NEB):c.8221C>T (p.Pro2741Ser)
NM_001164508.2(NEB):c.8237C>T (p.Ala2746Val)
NM_001164508.2(NEB):c.8251G>A (p.Val2751Ile)
NM_001164508.2(NEB):c.8305G>A (p.Gly2769Ser)
NM_001164508.2(NEB):c.8306G>T (p.Gly2769Val) rs762272453
NM_001164508.2(NEB):c.8315T>G (p.Met2772Arg) rs1574896797
NM_001164508.2(NEB):c.8326G>C (p.Ala2776Pro) rs2098890629
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.834AGA[1] (p.Glu279del) rs1553642771
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro) rs398124173
NM_001164508.2(NEB):c.8359G>A (p.Asp2787Asn)
NM_001164508.2(NEB):c.8374-3T>C rs2154105691
NM_001164508.2(NEB):c.8383A>G (p.Lys2795Glu)
NM_001164508.2(NEB):c.8386G>A (p.Glu2796Lys)
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
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.8422G>T (p.Ala2808Ser)
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser) rs747131655
NM_001164508.2(NEB):c.8435G>A (p.Arg2812His)
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.8515T>A (p.Trp2839Arg)
NM_001164508.2(NEB):c.8530A>T (p.Ser2844Cys)
NM_001164508.2(NEB):c.8547G>C (p.Met2849Ile) rs2098833299
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu) rs1256097684
NM_001164508.2(NEB):c.8584G>T (p.Val2862Phe) rs949616238
NM_001164508.2(NEB):c.8590G>T (p.Asp2864Tyr)
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.8615A>G (p.His2872Arg) rs2098832647
NM_001164508.2(NEB):c.8617C>A (p.Gln2873Lys)
NM_001164508.2(NEB):c.8620T>A (p.Trp2874Arg) rs2154104967
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala) rs2098832346
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp) rs748618562
NM_001164508.2(NEB):c.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.8685+3G>A
NM_001164508.2(NEB):c.8685+4A>T
NM_001164508.2(NEB):c.8686-3C>T rs2098827787
NM_001164508.2(NEB):c.8693A>G (p.Tyr2898Cys)
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.8726G>C (p.Gly2909Ala)
NM_001164508.2(NEB):c.8733_8734inv (p.Ser2912Pro)
NM_001164508.2(NEB):c.8753T>G (p.Val2918Gly) rs2098827193
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.8831G>A (p.Ser2944Asn)
NM_001164508.2(NEB):c.8851C>G (p.Gln2951Glu) rs2154103068
NM_001164508.2(NEB):c.8876T>A (p.Ile2959Asn) rs1228319024
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del) rs1553964000
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
NM_001164508.2(NEB):c.8897A>G (p.Tyr2966Cys) rs1560822452
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.8995A>C (p.Ser2999Arg)
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.902_903delinsAT (p.Arg301Asn) rs2099741678
NM_001164508.2(NEB):c.9046C>G (p.Arg3016Gly) rs1057517977
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.9056C>T (p.Ala3019Val) rs1394119778
NM_001164508.2(NEB):c.906G>A (p.Met302Ile)
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
NM_001164508.2(NEB):c.9108A>T (p.Lys3036Asn)
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser) rs758739517
NM_001164508.2(NEB):c.9124_9125inv (p.Cys3042His)
NM_001164508.2(NEB):c.9176A>G (p.Lys3059Arg)
NM_001164508.2(NEB):c.9193C>T (p.His3065Tyr)
NM_001164508.2(NEB):c.9278T>C (p.Leu3093Pro) rs2098711068
NM_001164508.2(NEB):c.9281G>C (p.Gly3094Ala) rs896120572
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
NM_001164508.2(NEB):c.9336C>G (p.Asn3112Lys)
NM_001164508.2(NEB):c.9351G>T (p.Trp3117Cys)
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.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.9398A>G (p.Tyr3133Cys)
NM_001164508.2(NEB):c.9407A>G (p.Gln3136Arg)
NM_001164508.2(NEB):c.9414+5G>A rs2154080637
NM_001164508.2(NEB):c.9439T>G (p.Trp3147Gly) rs2098662413
NM_001164508.2(NEB):c.943G>T (p.Asp315Tyr)
NM_001164508.2(NEB):c.9448G>A (p.Gly3150Ser)
NM_001164508.2(NEB):c.9463C>A (p.Pro3155Thr)
NM_001164508.2(NEB):c.9466A>T (p.Ile3156Phe) rs749280613
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.9488A>G (p.Lys3163Arg)
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.9530G>A (p.Arg3177His)
NM_001164508.2(NEB):c.9536C>T (p.Pro3179Leu)
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001164508.2(NEB):c.9542A>G (p.Asp3181Gly)
NM_001164508.2(NEB):c.9550A>G (p.Lys3184Glu)
NM_001164508.2(NEB):c.9551A>T (p.Lys3184Ile) rs2154073147
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.9562G>A (p.Val3188Met)
NM_001164508.2(NEB):c.9586C>G (p.Leu3196Val)
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.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.9631G>A (p.Glu3211Lys) rs757944456
NM_001164508.2(NEB):c.9643A>G (p.Lys3215Glu)
NM_001164508.2(NEB):c.9659T>G (p.Ile3220Ser) rs2098651541
NM_001164508.2(NEB):c.9679C>G (p.Pro3227Ala) rs778571060
NM_001164508.2(NEB):c.9690G>A (p.Met3230Ile)
NM_001164508.2(NEB):c.9694G>A (p.Ala3232Thr) rs1329330602
NM_001164508.2(NEB):c.9704A>G (p.Asn3235Ser)
NM_001164508.2(NEB):c.9712A>G (p.Asn3238Asp)
NM_001164508.2(NEB):c.9723+4G>A rs577635321
NM_001164508.2(NEB):c.9725C>G (p.Thr3242Ser)
NM_001164508.2(NEB):c.9749A>C (p.Glu3250Ala)
NM_001164508.2(NEB):c.9751G>A (p.Ala3251Thr)
NM_001164508.2(NEB):c.9754A>C (p.Lys3252Gln)
NM_001164508.2(NEB):c.9760A>C (p.Lys3254Gln)
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln) rs200930670
NM_001164508.2(NEB):c.9790C>G (p.Pro3264Ala) rs755708498
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg) rs1553934027
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg) rs772766917
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.9868C>T (p.His3290Tyr)
NM_001164508.2(NEB):c.9871C>G (p.His3291Asp) rs2154061498
NM_001164508.2(NEB):c.9889A>G (p.Ile3297Val) rs1245785481
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.9947G>A (p.Arg3316Lys)
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met) rs373285394
NM_001164508.2(NEB):c.9960G>C (p.Lys3320Asn)
NM_001164508.2(NEB):c.9972G>T (p.Lys3324Asn) rs747709979
NM_001271208.1(NEB):c.7651_7656del6 rs1553983947

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