ClinVar Miner

List of variants reported as uncertain significance for childhood-onset nemaline myopathy by Invitae

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2483
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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.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512 0.00107
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429 0.00046
NM_001164508.2(NEB):c.23557-3C>G rs374499643 0.00044
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe) rs373391330 0.00042
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_001101362.3(KBTBD13):c.205C>T (p.Arg69Trp) rs530722554 0.00034
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro) rs372800812 0.00031
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050 0.00025
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001164508.2(NEB):c.9178A>G (p.Met3060Val) rs538524863 0.00021
NM_006063.3(KLHL41):c.206C>T (p.Ala69Val) rs151212497 0.00021
NM_001164508.2(NEB):c.1569C>T (p.Asp523=) rs200758495 0.00020
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.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser) rs370615288 0.00017
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe) rs142817656 0.00016
NM_001101362.3(KBTBD13):c.272C>A (p.Pro91Gln) rs773454367 0.00015
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys) rs372183592 0.00014
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001101362.3(KBTBD13):c.382T>C (p.Phe128Leu) rs572875121 0.00012
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.25055C>T (p.Thr8352Ile) rs372762302 0.00012
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys) rs368965372 0.00012
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg) rs374196960 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.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_001101362.3(KBTBD13):c.359del (p.Asp120fs) rs903604256 0.00010
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.24873G>A (p.Thr8291=) rs779321695 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.9271G>A (p.Asp3091Asn) rs764110936 0.00010
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728 0.00010
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn) rs117636679 0.00009
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.1152+5G>A rs111404077 0.00009
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn) rs766876980 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.23017-3T>C rs111314898 0.00009
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala) rs199890164 0.00009
NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His) rs758684130 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.8356A>G (p.Arg2786Gly) rs201747395 0.00008
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn) rs375811851 0.00008
NM_001101362.3(KBTBD13):c.833A>T (p.Tyr278Phe) rs748032183 0.00007
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile) rs375830667 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001164508.2(NEB):c.23127+4G>A rs764457781 0.00007
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120 0.00007
NM_001101362.3(KBTBD13):c.1107C>G (p.Ile369Met) rs757616268 0.00006
NM_001101362.3(KBTBD13):c.305C>A (p.Thr102Lys) rs1321779623 0.00006
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.11221G>A (p.Gly3741Ser) rs375657086 0.00006
NM_001164508.2(NEB):c.1152C>T (p.Asp384=) rs767328072 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.7696C>T (p.Arg2566Trp) rs368232288 0.00006
NM_001164508.2(NEB):c.78+6G>A rs376085885 0.00006
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln) rs557950249 0.00006
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys) rs758363933 0.00006
NM_001164508.2(NEB):c.9883C>T (p.Arg3295Trp) rs750990726 0.00006
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly) rs145810515 0.00006
NM_006063.3(KLHL41):c.1757G>A (p.Arg586His) rs762482219 0.00006
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) rs547547946 0.00006
NM_001101362.3(KBTBD13):c.1333C>T (p.Pro445Ser) rs778885479 0.00005
NM_001101362.3(KBTBD13):c.812C>T (p.Pro271Leu) rs944158562 0.00005
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys) rs374359052 0.00005
NM_001164508.2(NEB):c.10675C>T (p.Arg3559Cys) rs751938843 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.17376_17381del (p.Met5792_Asp5794delinsIle) rs765184893 0.00005
NM_001164508.2(NEB):c.18694-3T>C rs370200484 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.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.9388C>T (p.Arg3130Trp) rs779778326 0.00005
NM_001101362.3(KBTBD13):c.483C>A (p.Ser161Arg) rs1464339145 0.00004
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys) rs374471394 0.00004
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.12062T>C (p.Ile4021Thr) rs370068571 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.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile) rs776012642 0.00004
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser) rs531618541 0.00004
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys) rs369642754 0.00004
NM_001164508.2(NEB):c.23346+5G>A rs778663301 0.00004
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu) rs541908352 0.00004
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln) rs770024830 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr) rs563173814 0.00004
NM_001164508.2(NEB):c.4127A>G (p.Asn1376Ser) rs1309733626 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.6075+3A>C rs986325764 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.9112A>G (p.Lys3038Glu) rs780293943 0.00004
NM_006063.3(KLHL41):c.1482A>T (p.Lys494Asn) rs778531652 0.00004
NM_006063.3(KLHL41):c.208A>G (p.Lys70Glu) rs766504219 0.00004
NM_006063.3(KLHL41):c.833T>C (p.Val278Ala) rs751923233 0.00004
NM_001101362.3(KBTBD13):c.1346G>T (p.Gly449Val) rs1216666979 0.00003
NM_001101362.3(KBTBD13):c.240G>T (p.Gln80His) rs1040368554 0.00003
NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn) rs1403660333 0.00003
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.10676G>A (p.Arg3559His) rs376558062 0.00003
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln) rs774454536 0.00003
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107 0.00003
NM_001164508.2(NEB):c.10872C>T (p.Asp3624=) rs781328083 0.00003
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val) rs370161504 0.00003
NM_001164508.2(NEB):c.11072A>G (p.Asn3691Ser) rs1184035076 0.00003
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397 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.12010G>A (p.Ala4004Thr) rs750705899 0.00003
NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr) rs746008098 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001164508.2(NEB):c.12747+4C>T rs1436792470 0.00003
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015 0.00003
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 0.00003
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177 0.00003
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705 0.00003
NM_001164508.2(NEB):c.19101+4C>T rs778716460 0.00003
NM_001164508.2(NEB):c.19625A>G (p.Asp6542Gly) rs753830499 0.00003
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00003
NM_001164508.2(NEB):c.23630C>T (p.Thr7877Ile) rs772064998 0.00003
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg) rs200761405 0.00003
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu) rs759261311 0.00003
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu) rs541150975 0.00003
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile) rs1482662133 0.00003
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592 0.00003
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val) rs749977606 0.00003
NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly) rs774603877 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu) rs781515499 0.00003
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser) rs1320792762 0.00003
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 0.00003
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895 0.00003
NM_001164508.2(NEB):c.6415C>G (p.His2139Asp) rs886044641 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.7808C>T (p.Pro2603Leu) rs1259492469 0.00003
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys) rs750799792 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.9827G>A (p.Ser3276Asn) rs1168444365 0.00003
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His) rs150768955 0.00003
NM_006063.3(KLHL41):c.1448T>C (p.Ile483Thr) rs978825115 0.00003
NM_006063.3(KLHL41):c.1454G>A (p.Arg485His) rs760007708 0.00003
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) rs778003504 0.00003
NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu) rs772160259 0.00003
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser) rs766934634 0.00002
NM_001100.4(ACTA1):c.808+6C>A rs200342114 0.00002
NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp) rs544519051 0.00002
NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp) rs1228459718 0.00002
NM_001101362.3(KBTBD13):c.1337G>C (p.Gly446Ala) rs976528181 0.00002
NM_001101362.3(KBTBD13):c.412G>A (p.Ala138Thr) rs1338140080 0.00002
NM_001101362.3(KBTBD13):c.434C>G (p.Ala145Gly) rs1205418680 0.00002
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu) rs760224608 0.00002
NM_001101362.3(KBTBD13):c.79G>A (p.Glu27Lys) rs760809346 0.00002
NM_001101362.3(KBTBD13):c.874C>T (p.Pro292Ser) rs765686080 0.00002
NM_001101362.3(KBTBD13):c.985G>C (p.Ala329Pro) rs1158844505 0.00002
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.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.11575C>T (p.Arg3859Trp) rs562669490 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.12280G>C (p.Asp4094His) rs748607410 0.00002
NM_001164508.2(NEB):c.12330+4C>T rs772068098 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.16828G>T (p.Val5610Leu) rs759755890 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.18052C>T (p.Leu6018Phe) rs1223624917 0.00002
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293 0.00002
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225 0.00002
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys) rs1177490619 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.20262+3G>A rs763862179 0.00002
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His) rs770527289 0.00002
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn) rs755199802 0.00002
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu) rs374029795 0.00002
NM_001164508.2(NEB):c.23928+4T>C rs768465696 0.00002
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys) rs969631939 0.00002
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00002
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys) rs748561855 0.00002
NM_001164508.2(NEB):c.2521G>A (p.Asp841Asn) rs377599060 0.00002
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro) rs370819880 0.00002
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys) rs371027084 0.00002
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr) rs944276562 0.00002
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys) rs779213215 0.00002
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met) rs975412307 0.00002
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile) rs552140238 0.00002
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His) rs767185795 0.00002
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val) rs200481156 0.00002
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp) rs1204576083 0.00002
NM_001164508.2(NEB):c.8594T>C (p.Val2865Ala) rs754454398 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.9939G>C (p.Gln3313His) rs767908602 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_006063.3(KLHL41):c.1306A>G (p.Lys436Glu) rs1185067965 0.00002
NM_006063.3(KLHL41):c.1392G>T (p.Arg464Ser) rs745775130 0.00002
NM_006063.3(KLHL41):c.1759T>C (p.Tyr587His) rs770685517 0.00002
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln) rs576773055 0.00002
NM_006063.3(KLHL41):c.757A>G (p.Lys253Glu) rs773708864 0.00002
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala) rs1049537934 0.00002
NM_001100.4(ACTA1):c.329C>T (p.Ala110Val) rs970679543 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.455-9C>G rs772957464 0.00001
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu) rs1255258064 0.00001
NM_001100.4(ACTA1):c.616+5G>A rs773010488 0.00001
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser) rs148514635 0.00001
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr) rs1659954399 0.00001
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser) rs546670743 0.00001
NM_001101362.3(KBTBD13):c.1016C>T (p.Pro339Leu) rs772222290 0.00001
NM_001101362.3(KBTBD13):c.1048C>A (p.Arg350Ser) rs779744493 0.00001
NM_001101362.3(KBTBD13):c.1060T>C (p.Tyr354His) rs1215359382 0.00001
NM_001101362.3(KBTBD13):c.1105A>G (p.Ile369Val) rs780785524 0.00001
NM_001101362.3(KBTBD13):c.1112G>C (p.Cys371Ser) rs1019923438 0.00001
NM_001101362.3(KBTBD13):c.1129G>A (p.Gly377Ser) rs1322919655 0.00001
NM_001101362.3(KBTBD13):c.1133A>G (p.Gln378Arg) rs769042275 0.00001
NM_001101362.3(KBTBD13):c.1189G>A (p.Val397Met) rs1299910198 0.00001
NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp) rs775442274 0.00001
NM_001101362.3(KBTBD13):c.122G>A (p.Arg41Gln) rs760757402 0.00001
NM_001101362.3(KBTBD13):c.1248C>G (p.Ile416Met) rs1291680168 0.00001
NM_001101362.3(KBTBD13):c.1265G>A (p.Arg422Gln) rs767053257 0.00001
NM_001101362.3(KBTBD13):c.1291C>T (p.Pro431Ser) rs755476256 0.00001
NM_001101362.3(KBTBD13):c.1294C>T (p.Arg432Trp) rs1376646798 0.00001
NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro) rs765124692 0.00001
NM_001101362.3(KBTBD13):c.1331C>T (p.Pro444Leu) rs1301827044 0.00001
NM_001101362.3(KBTBD13):c.154G>A (p.Val52Ile) rs1268655819 0.00001
NM_001101362.3(KBTBD13):c.167G>A (p.Gly56Glu) rs1242559901 0.00001
NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu) rs752840796 0.00001
NM_001101362.3(KBTBD13):c.206G>A (p.Arg69Gln) rs762769253 0.00001
NM_001101362.3(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454 0.00001
NM_001101362.3(KBTBD13):c.367C>T (p.His123Tyr) rs1013537691 0.00001
NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp) rs746640081 0.00001
NM_001101362.3(KBTBD13):c.491C>G (p.Thr164Arg) rs1404956647 0.00001
NM_001101362.3(KBTBD13):c.511G>A (p.Glu171Lys) rs1485601321 0.00001
NM_001101362.3(KBTBD13):c.542A>C (p.Asp181Ala) rs1386416146 0.00001
NM_001101362.3(KBTBD13):c.557C>T (p.Ala186Val) rs1435148449 0.00001
NM_001101362.3(KBTBD13):c.607G>C (p.Gly203Arg) rs944113571 0.00001
NM_001101362.3(KBTBD13):c.632T>A (p.Leu211His) rs924967048 0.00001
NM_001101362.3(KBTBD13):c.646G>A (p.Gly216Ser) rs1052506752 0.00001
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) rs555158930 0.00001
NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly) rs1193653136 0.00001
NM_001101362.3(KBTBD13):c.677A>G (p.Glu226Gly) rs1339316249 0.00001
NM_001101362.3(KBTBD13):c.739C>A (p.Pro247Thr) rs1187855959 0.00001
NM_001101362.3(KBTBD13):c.775C>T (p.Arg259Cys) rs780964425 0.00001
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe) rs769416249 0.00001
NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser) rs764697405 0.00001
NM_001101362.3(KBTBD13):c.811C>G (p.Pro271Ala) rs1436431809 0.00001
NM_001101362.3(KBTBD13):c.82C>T (p.His28Tyr) rs2086976630 0.00001
NM_001101362.3(KBTBD13):c.853T>C (p.Trp285Arg) rs768886246 0.00001
NM_001101362.3(KBTBD13):c.8G>A (p.Arg3Gln) rs759494469 0.00001
NM_001101362.3(KBTBD13):c.901G>A (p.Ala301Thr) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.914G>A (p.Gly305Asp) rs2086998690 0.00001
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro) rs762447469 0.00001
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met) rs530565802 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.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.10992G>C (p.Gln3664His) rs1386975124 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.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.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.12239T>C (p.Ile4080Thr) rs557283717 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 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.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.1470C>T (p.Asp490=) rs778189876 0.00001
NM_001164508.2(NEB):c.1478A>G (p.Tyr493Cys) rs1576674181 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047 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.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.17347C>T (p.Arg5783Cys) rs1037281077 0.00001
NM_001164508.2(NEB):c.1736C>T (p.Ala579Val) rs2099581961 0.00001
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr) rs780600292 0.00001
NM_001164508.2(NEB):c.17416G>A (p.Glu5806Lys) rs748311158 0.00001
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178 0.00001
NM_001164508.2(NEB):c.17545C>T (p.Arg5849Cys) rs771214344 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.18073C>T (p.Arg6025Cys) rs765174060 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.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.18709C>G (p.His6237Asp) rs750141196 0.00001
NM_001164508.2(NEB):c.18811C>T (p.His6271Tyr) rs932662350 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.1942A>T (p.Asn648Tyr) rs1553592578 0.00001
NM_001164508.2(NEB):c.19486A>G (p.Met6496Val) rs1354087086 0.00001
NM_001164508.2(NEB):c.19558G>A (p.Glu6520Lys) rs753229810 0.00001
NM_001164508.2(NEB):c.19624G>A (p.Asp6542Asn) rs757407447 0.00001
NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr) rs756123091 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.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.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.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.20230C>A (p.Gln6744Lys) rs766890449 0.00001
NM_001164508.2(NEB):c.20258G>A (p.Ser6753Asn) rs2094881047 0.00001
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711 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.20831C>T (p.Thr6944Ile) rs763942330 0.00001
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys) rs901568718 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.21497C>T (p.Thr7166Ile) rs766520487 0.00001
NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe) rs794727042 0.00001
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr) rs1229421352 0.00001
NM_001164508.2(NEB):c.21628G>A (p.Asp7210Asn) rs2090426850 0.00001
NM_001164508.2(NEB):c.21630+6T>G rs1401750275 0.00001
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser) rs751872533 0.00001
NM_001164508.2(NEB):c.21829C>A (p.Gln7277Lys) rs887471790 0.00001
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=) rs770721746 0.00001
NM_001164508.2(NEB):c.21974A>G (p.Glu7325Gly) rs1159938154 0.00001
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg) rs1447292730 0.00001
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp) rs376684415 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22124C>G (p.Thr7375Ser) rs1195608964 0.00001
NM_001164508.2(NEB):c.22161+5G>C rs376988538 0.00001
NM_001164508.2(NEB):c.22374+6G>A rs749050869 0.00001
NM_001164508.2(NEB):c.22412A>G (p.His7471Arg) rs1553641474 0.00001
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala) rs886054928 0.00001
NM_001164508.2(NEB):c.22537A>G (p.Lys7513Glu) rs570049431 0.00001
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr) rs771643485 0.00001
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln) rs903199022 0.00001
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly) rs776739582 0.00001
NM_001164508.2(NEB):c.2306G>A (p.Ser769Asn) rs534124991 0.00001
NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys) rs1476557676 0.00001
NM_001164508.2(NEB):c.23594T>C (p.Ile7865Thr) rs2068741180 0.00001
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg) rs1480807112 0.00001
NM_001164508.2(NEB):c.23649G>A (p.Ser7883=) rs778102984 0.00001
NM_001164508.2(NEB):c.23660A>C (p.Lys7887Thr) rs1166941249 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg) rs762094581 0.00001
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala) rs1253296856 0.00001
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly) rs1318564274 0.00001
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser) rs1461067378 0.00001
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val) rs1312647029 0.00001
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu) rs1037262755 0.00001
NM_001164508.2(NEB):c.24198C>A (p.Asn8066Lys) rs2061715771 0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 0.00001
NM_001164508.2(NEB):c.24254C>G (p.Thr8085Ser) rs1297487988 0.00001
NM_001164508.2(NEB):c.24262A>G (p.Met8088Val) rs746180925 0.00001
NM_001164508.2(NEB):c.24293T>C (p.Ile8098Thr) rs372228043 0.00001
NM_001164508.2(NEB):c.24295A>T (p.Ser8099Cys) rs1489581077 0.00001
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe) rs1217235799 0.00001
NM_001164508.2(NEB):c.2437G>A (p.Glu813Lys) rs752442261 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=) rs527744844 0.00001
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr) rs1320244420 0.00001
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=) rs1230102324 0.00001
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile) rs2058043130 0.00001
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys) rs745632829 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 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.25405-3T>G rs1222497271 0.00001
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter) rs1242654062 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.2909A>T (p.Glu970Val) rs1337927808 0.00001
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712 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.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>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.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.3532G>A (p.Glu1178Lys) rs774703099 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.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.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.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.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.5123G>A (p.Gly1708Glu) rs971655417 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.5761G>T (p.Asp1921Tyr) rs763408172 0.00001
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg) rs755003638 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.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.6806A>G (p.Gln2269Arg) rs768068829 0.00001
NM_001164508.2(NEB):c.6808-5T>C rs887525004 0.00001
NM_001164508.2(NEB):c.6851A>G (p.Tyr2284Cys) rs778637750 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.7273A>T (p.Ser2425Cys) rs758881101 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.7661G>A (p.Gly2554Asp) rs770338556 0.00001
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val) rs1334008702 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.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.8372A>C (p.Glu2791Ala) rs1414164577 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.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.9419T>C (p.Ile3140Thr) rs774964206 0.00001
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138 0.00001
NM_001164508.2(NEB):c.9517G>A (p.Asp3173Asn) rs376224722 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.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
NM_006063.3(KLHL41):c.1075A>G (p.Asn359Asp) rs143883202 0.00001
NM_006063.3(KLHL41):c.1147C>A (p.Pro383Thr) rs760973350 0.00001
NM_006063.3(KLHL41):c.1174G>A (p.Gly392Ser) rs374204816 0.00001
NM_006063.3(KLHL41):c.1346T>C (p.Ile449Thr) rs1410868438 0.00001
NM_006063.3(KLHL41):c.1460T>C (p.Met487Thr) rs753046029 0.00001
NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln) rs747822404 0.00001
NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr) rs746755443 0.00001
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) rs1237694295 0.00001
NM_006063.3(KLHL41):c.1745T>C (p.Leu582Ser) rs940060854 0.00001
NM_006063.3(KLHL41):c.176G>A (p.Arg59His) rs759521852 0.00001
NM_006063.3(KLHL41):c.1794A>C (p.Leu598Phe) rs893355163 0.00001
NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys) rs772174002 0.00001
NM_006063.3(KLHL41):c.209A>T (p.Lys70Ile) rs751688698 0.00001
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala) rs553091070 0.00001
NM_006063.3(KLHL41):c.530A>C (p.Gln177Pro) rs1053056040 0.00001
NM_006063.3(KLHL41):c.581A>C (p.Glu194Ala) rs201591782 0.00001
NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu) rs777151398 0.00001
NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr) rs766071573 0.00001
NM_006063.3(KLHL41):c.812C>T (p.Ala271Val) rs1304097331 0.00001
NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu) rs773869984 0.00001
NM_006063.3(KLHL41):c.883A>G (p.Ile295Val) rs774846657 0.00001
NM_006063.3(KLHL41):c.959C>T (p.Thr320Met) rs781536513 0.00001
NM_006063.3(KLHL41):c.994C>A (p.Gln332Lys) rs756595110 0.00001
NM_152263.4(TPM3):c.567-4A>C rs199517163 0.00001
NM_152263.4(TPM3):c.642+4G>T rs1462764945 0.00001
NM_152263.4(TPM3):c.643-3C>T rs529845435 0.00001
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640 0.00001
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg) rs201202440 0.00001
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr) rs761036509 0.00001
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly) rs1455676920 0.00001
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg) rs536564074 0.00001
NM_152263.4(TPM3):c.829C>A (p.His277Asn) rs747794605 0.00001
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr) rs377438824 0.00001
NM_152263.4(TPM3):c.835C>G (p.Leu279Val) rs186253666 0.00001
NM_152263.4(TPM3):c.844A>G (p.Met282Val) rs1661325667 0.00001
NM_152263.4(TPM3):c.853A>G (p.Ile285Val) rs758557977 0.00001
NC_000001.10:g.(?_154140413)_(154164494_?)dup
NC_000001.10:g.(?_154163642)_(154164494_?)del
NC_000001.10:g.(?_229567246)_(232172577_?)dup
NC_000001.11:g.(?_154191166)_(154192038_?)del
NC_000001.11:g.(?_229431489)_(229433125_?)dup
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.(?_152470770)_(152471121_?)del
NC_000002.11:g.(?_152484352)_152490482del
NC_000002.11:g.(?_152539156)_(152539303_?)del
NC_000002.11:g.(?_170366289)_(170382206_?)dup
NC_000002.12:g.(?_151496266)_(151497728_?)del
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NC_000002.12:g.(?_151496931)_(151497043_?)del
NC_000002.12:g.(?_169509769)_(169525706_?)dup
NC_000015.9:g.(?_65255951)_(65370540_?)del
NM_001100.3(ACTA1):c.220G>C (p.Glu74Gln) rs727503798
NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn) rs1553255306
NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)
NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)
NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp) rs1558081360
NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs) rs2102735016
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys) rs2102736568
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala) rs1659934469
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile) rs745494410
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr) rs1553255290
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp) rs2102736562
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg) rs1659984455
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly) rs1429699993
NM_001100.4(ACTA1):c.129+4A>T
NM_001100.4(ACTA1):c.130-11C>A
NM_001100.4(ACTA1):c.130-3C>T
NM_001100.4(ACTA1):c.130G>T (p.Gly44Cys) rs1131691941
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val) rs1558082125
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile) rs398123562
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys) rs1558082103
NM_001100.4(ACTA1):c.153G>C (p.Gln51His) rs2102736429
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile) rs2102736399
NM_001100.4(ACTA1):c.215C>T (p.Pro72Leu)
NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)
NM_001100.4(ACTA1):c.307C>T (p.His103Tyr)
NM_001100.4(ACTA1):c.311C>A (p.Pro104His)
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile) rs1659976518
NM_001100.4(ACTA1):c.331_348del (p.Pro111_Ala116del)
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile) rs146508471
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser) rs1659975786
NM_001100.4(ACTA1):c.349A>T (p.Asn117Tyr)
NM_001100.4(ACTA1):c.358A>C (p.Lys120Gln)
NM_001100.4(ACTA1):c.370A>G (p.Ile124Val)
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn) rs1571894217
NM_001100.4(ACTA1):c.391G>A (p.Val131Met) rs1273559032
NM_001100.4(ACTA1):c.3G>A (p.Met1Ile)
NM_001100.4(ACTA1):c.407T>C (p.Val136Ala)
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr) rs2102736617
NM_001100.4(ACTA1):c.410C>A (p.Ala137Asp)
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg) rs1553255482
NM_001100.4(ACTA1):c.428C>T (p.Ser143Phe)
NM_001100.4(ACTA1):c.431T>C (p.Leu144Pro)
NM_001100.4(ACTA1):c.434A>T (p.Tyr145Phe)
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val) rs1659973054
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg) rs398123563
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys) rs398123564
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn) rs2102736155
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.453C>T (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.455-20TC[2]
NM_001100.4(ACTA1):c.455-7C>A
NM_001100.4(ACTA1):c.491A>G (p.Asn164Ser)
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val) rs587780272
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met) rs2102735941
NM_001100.4(ACTA1):c.532A>C (p.Met178Leu)
NM_001100.4(ACTA1):c.575T>C (p.Met192Thr) rs1057523333
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile) rs2102735869
NM_001100.4(ACTA1):c.616+4C>G rs371799971
NM_001100.4(ACTA1):c.616+4C>T rs371799971
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr) rs1659986179
NM_001100.4(ACTA1):c.627G>T (p.Glu209Asp)
NM_001100.4(ACTA1):c.64G>T (p.Gly22Cys)
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe) rs1571893107
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys) rs1057521118
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn) rs2102735641
NM_001100.4(ACTA1):c.69C>A (p.Phe23Leu)
NM_001100.4(ACTA1):c.709T>C (p.Ser237Pro)
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro) rs1571893051
NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) rs367543051
NM_001100.4(ACTA1):c.727G>C (p.Glu243Gln)
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.738C>G (p.Asp246Glu)
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys) rs1659954634
NM_001100.4(ACTA1):c.751A>T (p.Thr251Ser)
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys) rs2102735572
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser) rs1553255405
NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu)
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys) rs2102735536
NM_001100.4(ACTA1):c.805A>G (p.Ile269Val)
NM_001100.4(ACTA1):c.808+3G>A rs549268481
NM_001100.4(ACTA1):c.809-10C>A rs1659945481
NM_001100.4(ACTA1):c.809-9G>A
NM_001100.4(ACTA1):c.811A>G (p.Met271Val) rs1553255361
NM_001100.4(ACTA1):c.819_820delinsTT (p.Ala274Ser)
NM_001100.4(ACTA1):c.81C>A (p.Asp27Glu) rs1553255533
NM_001100.4(ACTA1):c.82G>A (p.Ala28Thr)
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys) rs2102736585
NM_001100.4(ACTA1):c.836C>A (p.Thr279Asn)
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn) rs1659943773
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys) rs533868659
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe) rs1553255349
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp) rs2102735242
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His) rs2102735230
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del) rs1553255336
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val) rs1659940726
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln) rs1571892527
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile) rs1553255334
NM_001100.4(ACTA1):c.983_985del (p.Lys328del) rs1659939983
NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)
NM_001100.4(ACTA1):c.986_989dup (p.Lys330fs)
NM_001100.4(ACTA1):c.990+3G>T
NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del) rs2086974277
NM_001101362.3(KBTBD13):c.1001C>A (p.Ala334Asp)
NM_001101362.3(KBTBD13):c.1001C>T (p.Ala334Val) rs200804273
NM_001101362.3(KBTBD13):c.1005_1006delinsAA (p.Leu336Met) rs2140545326
NM_001101362.3(KBTBD13):c.1006C>A (p.Leu336Met) rs1131691634
NM_001101362.3(KBTBD13):c.1006C>G (p.Leu336Val) rs1131691634
NM_001101362.3(KBTBD13):c.1020G>C (p.Gln340His)
NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)
NM_001101362.3(KBTBD13):c.1034G>C (p.Cys345Ser)
NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe)
NM_001101362.3(KBTBD13):c.1044C>G (p.Ala348=)
NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys)
NM_001101362.3(KBTBD13):c.1066G>C (p.Val356Leu)
NM_001101362.3(KBTBD13):c.1069C>T (p.Arg357Cys)
NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His) rs779342567
NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)
NM_001101362.3(KBTBD13):c.1150G>A (p.Gly384Ser)
NM_001101362.3(KBTBD13):c.1158C>G (p.Phe386Leu)
NM_001101362.3(KBTBD13):c.115G>T (p.Gly39Cys) rs201420126
NM_001101362.3(KBTBD13):c.1171G>A (p.Gly391Arg)
NM_001101362.3(KBTBD13):c.1184C>G (p.Thr395Arg) rs758995387
NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val)
NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val) rs1479237002
NM_001101362.3(KBTBD13):c.1196G>A (p.Arg399His)
NM_001101362.3(KBTBD13):c.1209C>G (p.Val403=)
NM_001101362.3(KBTBD13):c.1222dup (p.Arg408fs)
NM_001101362.3(KBTBD13):c.1240T>C (p.Tyr414His) rs1555407759
NM_001101362.3(KBTBD13):c.1249G>C (p.Glu417Gln)
NM_001101362.3(KBTBD13):c.1274G>C (p.Arg425Thr)
NM_001101362.3(KBTBD13):c.1292C>T (p.Pro431Leu)
NM_001101362.3(KBTBD13):c.1297C>T (p.Pro433Ser) rs1555407773
NM_001101362.3(KBTBD13):c.1307T>A (p.Leu436Ter) rs2140546093
NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln)
NM_001101362.3(KBTBD13):c.1334C>A (p.Pro445His) rs192406963
NM_001101362.3(KBTBD13):c.1356T>G (p.Thr452=)
NM_001101362.3(KBTBD13):c.1358C>G (p.Ser453Trp)
NM_001101362.3(KBTBD13):c.1361C>T (p.Thr454Ile)
NM_001101362.3(KBTBD13):c.1366del (p.Ala456fs)
NM_001101362.3(KBTBD13):c.136G>C (p.Ala46Pro)
NM_001101362.3(KBTBD13):c.1373T>C (p.Leu458Pro) rs2140546272
NM_001101362.3(KBTBD13):c.139G>A (p.Glu47Lys)
NM_001101362.3(KBTBD13):c.13C>G (p.Pro5Ala) rs2086975088
NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly)
NM_001101362.3(KBTBD13):c.143T>C (p.Val48Ala)
NM_001101362.3(KBTBD13):c.145C>T (p.Arg49Cys)
NM_001101362.3(KBTBD13):c.146G>C (p.Arg49Pro)
NM_001101362.3(KBTBD13):c.146G>T (p.Arg49Leu) rs1027726798
NM_001101362.3(KBTBD13):c.152G>C (p.Gly51Ala)
NM_001101362.3(KBTBD13):c.164C>T (p.Ala55Val) rs757684085
NM_001101362.3(KBTBD13):c.170del (p.Gly57fs) rs1555407559
NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu)
NM_001101362.3(KBTBD13):c.175C>G (p.Arg59Gly)
NM_001101362.3(KBTBD13):c.175C>T (p.Arg59Cys) rs1406748219
NM_001101362.3(KBTBD13):c.176G>A (p.Arg59His)
NM_001101362.3(KBTBD13):c.178G>C (p.Ala60Pro)
NM_001101362.3(KBTBD13):c.182C>T (p.Thr61Met)
NM_001101362.3(KBTBD13):c.191T>G (p.Val64Gly)
NM_001101362.3(KBTBD13):c.194T>C (p.Leu65Pro)
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) rs939242678
NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser)
NM_001101362.3(KBTBD13):c.206G>C (p.Arg69Pro)
NM_001101362.3(KBTBD13):c.209C>G (p.Pro70Arg) rs766269932
NM_001101362.3(KBTBD13):c.209C>T (p.Pro70Leu) rs766269932
NM_001101362.3(KBTBD13):c.217G>A (p.Ala73Thr) rs1313295854
NM_001101362.3(KBTBD13):c.218C>A (p.Ala73Glu)
NM_001101362.3(KBTBD13):c.225G>C (p.Glu75Asp)
NM_001101362.3(KBTBD13):c.226G>A (p.Asp76Asn) rs1258831129
NM_001101362.3(KBTBD13):c.229G>C (p.Glu77Gln)
NM_001101362.3(KBTBD13):c.229_271dup (p.Pro91fs) rs1401828622
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.3(KBTBD13):c.23T>C (p.Leu8Pro)
NM_001101362.3(KBTBD13):c.241_242insTCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGG (p.Gln80_Ala81insValValGluCysAlaAlaPheLeuGlnAlaProAlaLeuAlaAlaGluAspGluLeuLeuGln)
NM_001101362.3(KBTBD13):c.247G>T (p.Glu83Ter) rs781438362
NM_001101362.3(KBTBD13):c.253G>A (p.Ala85Thr) rs1595912432
NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu)
NM_001101362.3(KBTBD13):c.269C>T (p.Ala90Val)
NM_001101362.3(KBTBD13):c.272_286dup (p.Arg95_Phe96insSerAlaLeuAlaArg)
NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)
NM_001101362.3(KBTBD13):c.283C>T (p.Arg95Cys)
NM_001101362.3(KBTBD13):c.291G>C (p.Leu97=)
NM_001101362.3(KBTBD13):c.292G>A (p.Glu98Lys) rs752222694
NM_001101362.3(KBTBD13):c.292G>C (p.Glu98Gln)
NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)
NM_001101362.3(KBTBD13):c.314A>T (p.Asn105Ile) rs2086983386
NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met)
NM_001101362.3(KBTBD13):c.320C>G (p.Ala107Gly) rs1264692363
NM_001101362.3(KBTBD13):c.325_327dup (p.Leu109_Cys110insLeu)
NM_001101362.3(KBTBD13):c.331G>C (p.Asp111His)
NM_001101362.3(KBTBD13):c.331G>T (p.Asp111Tyr)
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
NM_001101362.3(KBTBD13):c.340G>C (p.Ala114Pro) rs1344068633
NM_001101362.3(KBTBD13):c.348C>A (p.Phe116Leu) rs1222501717
NM_001101362.3(KBTBD13):c.34T>G (p.Trp12Gly)
NM_001101362.3(KBTBD13):c.350_351delinsCA (p.Gly117Ala) rs2086984445
NM_001101362.3(KBTBD13):c.355C>G (p.Arg119Gly) rs1222805926
NM_001101362.3(KBTBD13):c.360C>G (p.Asp120Glu)
NM_001101362.3(KBTBD13):c.374C>G (p.Ala125Gly) rs575149903
NM_001101362.3(KBTBD13):c.381_382dup (p.Phe128fs)
NM_001101362.3(KBTBD13):c.387C>G (p.Ile129Met) rs1246047806
NM_001101362.3(KBTBD13):c.389G>C (p.Cys130Ser) rs1316788781
NM_001101362.3(KBTBD13):c.392A>C (p.Asp131Ala)
NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys) rs192935606
NM_001101362.3(KBTBD13):c.400C>G (p.Arg134Gly)
NM_001101362.3(KBTBD13):c.405G>C (p.Glu135Asp) rs2086986320
NM_001101362.3(KBTBD13):c.40G>A (p.Gly14Ser)
NM_001101362.3(KBTBD13):c.412_423dup (p.Ala138_Ala141dup) rs2086986389
NM_001101362.3(KBTBD13):c.415G>A (p.Glu139Lys) rs1244821047
NM_001101362.3(KBTBD13):c.423G>A (p.Ala141=)
NM_001101362.3(KBTBD13):c.424C>A (p.Leu142Met) rs1476921965
NM_001101362.3(KBTBD13):c.432G>C (p.Glu144Asp)
NM_001101362.3(KBTBD13):c.434C>A (p.Ala145Asp)
NM_001101362.3(KBTBD13):c.439G>A (p.Ala147Thr)
NM_001101362.3(KBTBD13):c.444C>G (p.Tyr148Ter)
NM_001101362.3(KBTBD13):c.449C>T (p.Ala150Val)
NM_001101362.3(KBTBD13):c.470A>T (p.Tyr157Phe) rs1481116487
NM_001101362.3(KBTBD13):c.471C>G (p.Tyr157Ter) rs550724858
NM_001101362.3(KBTBD13):c.473_474del (p.Ala158fs)
NM_001101362.3(KBTBD13):c.475G>A (p.Ala159Thr) rs2140544169
NM_001101362.3(KBTBD13):c.475_478dup (p.Val160fs)
NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer) rs1555407608
NM_001101362.3(KBTBD13):c.481A>T (p.Ser161Cys)
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) rs777916743
NM_001101362.3(KBTBD13):c.521C>G (p.Ser174Trp) rs772025364
NM_001101362.3(KBTBD13):c.521C>T (p.Ser174Leu) rs772025364
NM_001101362.3(KBTBD13):c.524G>C (p.Arg175Pro) rs1226640143
NM_001101362.3(KBTBD13):c.527C>T (p.Thr176Met)
NM_001101362.3(KBTBD13):c.537C>G (p.Tyr179Ter) rs1465166108
NM_001101362.3(KBTBD13):c.541G>T (p.Asp181Tyr)
NM_001101362.3(KBTBD13):c.544G>T (p.Glu182Ter) rs952061379
NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp) rs1595912705
NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His)
NM_001101362.3(KBTBD13):c.571G>C (p.Ala191Pro) rs2086990576
NM_001101362.3(KBTBD13):c.572C>G (p.Ala191Gly) rs1014978095
NM_001101362.3(KBTBD13):c.580C>T (p.Pro194Ser)
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu) rs1481658087
NM_001101362.3(KBTBD13):c.589G>A (p.Ala197Thr)
NM_001101362.3(KBTBD13):c.592A>G (p.Ser198Gly)
NM_001101362.3(KBTBD13):c.594C>G (p.Ser198Arg) rs1365801743
NM_001101362.3(KBTBD13):c.607G>A (p.Gly203Arg) rs944113571
NM_001101362.3(KBTBD13):c.607_615del (p.Gly203_Ala205del) rs1595912738
NM_001101362.3(KBTBD13):c.610G>A (p.Val204Met)
NM_001101362.3(KBTBD13):c.614C>T (p.Ala205Val)
NM_001101362.3(KBTBD13):c.623G>A (p.Gly208Asp) rs1198118426
NM_001101362.3(KBTBD13):c.625A>T (p.Asn209Tyr)
NM_001101362.3(KBTBD13):c.626A>G (p.Asn209Ser) rs1039913863
NM_001101362.3(KBTBD13):c.627C>T (p.Asn209=)
NM_001101362.3(KBTBD13):c.640G>A (p.Val214Met)
NM_001101362.3(KBTBD13):c.653G>A (p.Arg218His)
NM_001101362.3(KBTBD13):c.656G>C (p.Gly219Ala)
NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu)
NM_001101362.3(KBTBD13):c.697C>A (p.Pro233Thr)
NM_001101362.3(KBTBD13):c.700G>A (p.Asp234Asn)
NM_001101362.3(KBTBD13):c.702C>G (p.Asp234Glu) rs761192296
NM_001101362.3(KBTBD13):c.703G>A (p.Gly235Ser) rs1278649126
NM_001101362.3(KBTBD13):c.706G>A (p.Gly236Ser)
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.3(KBTBD13):c.738G>A (p.Gln246=)
NM_001101362.3(KBTBD13):c.740C>G (p.Pro247Arg)
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.3(KBTBD13):c.746A>G (p.Tyr249Cys)
NM_001101362.3(KBTBD13):c.751A>C (p.Thr251Pro)
NM_001101362.3(KBTBD13):c.752_753del (p.Thr251fs) rs770027984
NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu) rs2140543014
NM_001101362.3(KBTBD13):c.768C>A (p.Phe256Leu)
NM_001101362.3(KBTBD13):c.769G>A (p.Asp257Asn) rs568675071
NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met) rs775846405
NM_001101362.3(KBTBD13):c.782A>G (p.Tyr261Cys) rs958756775
NM_001101362.3(KBTBD13):c.784G>A (p.Ala262Thr)
NM_001101362.3(KBTBD13):c.797_798delinsTG (p.Glu266Val)
NM_001101362.3(KBTBD13):c.823G>C (p.Val275Leu) rs1566960251
NM_001101362.3(KBTBD13):c.829C>G (p.Arg277Gly) rs754708028
NM_001101362.3(KBTBD13):c.83A>G (p.His28Arg)
NM_001101362.3(KBTBD13):c.842C>T (p.Ala281Val) rs1171797812
NM_001101362.3(KBTBD13):c.843C>T (p.Ala281=)
NM_001101362.3(KBTBD13):c.847G>A (p.Gly283Ser) rs770737413
NM_001101362.3(KBTBD13):c.861C>G (p.Phe287Leu) rs777259450
NM_001101362.3(KBTBD13):c.862G>A (p.Val288Met)
NM_001101362.3(KBTBD13):c.86del (p.Cys29fs) rs1191393272
NM_001101362.3(KBTBD13):c.886G>A (p.Ala296Thr)
NM_001101362.3(KBTBD13):c.887C>T (p.Ala296Val) rs1469851032
NM_001101362.3(KBTBD13):c.888del (p.Gly297fs)
NM_001101362.3(KBTBD13):c.925G>C (p.Val309Leu) rs532324778
NM_001101362.3(KBTBD13):c.938G>T (p.Arg313Leu) rs1399367095
NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser) rs2086999390
NM_001101362.3(KBTBD13):c.946G>A (p.Asp316Asn) rs2140545192
NM_001101362.3(KBTBD13):c.949del (p.Thr317fs) rs2140545202
NM_001101362.3(KBTBD13):c.958G>C (p.Val320Leu)
NM_001101362.3(KBTBD13):c.965_975del (p.Glu322fs) rs2087000027
NM_001101362.3(KBTBD13):c.970G>A (p.Ala324Thr) rs1216341966
NM_001101362.3(KBTBD13):c.977G>C (p.Arg326Pro) rs779729198
NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly)
NM_001101362.3(KBTBD13):c.985G>T (p.Ala329Ser) rs1158844505
NM_001101362.3(KBTBD13):c.988T>A (p.Trp330Arg)
NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln) rs200548009
NM_001101362.3(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021
NM_001164507.2(NEB):c.21348T>G (p.Asp7116Glu) rs199934793
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
NM_001164507.2(NEB):c.21397G>T (p.Ala7133Ser) rs988993094
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.10144-10_10144-9delinsG rs1553928417
NM_001164508.2(NEB):c.10144-17GT[3]
NM_001164508.2(NEB):c.10144-7_10144-5del rs2154058615
NM_001164508.2(NEB):c.10154A>T (p.Lys3385Ile)
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.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+15T>C
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.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.10453-17A>G
NM_001164508.2(NEB):c.10453A>T (p.Ser3485Cys) rs2154027931
NM_001164508.2(NEB):c.10519C>T (p.Pro3507Ser)
NM_001164508.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
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.10783G>A (p.Asp3595Asn)
NM_001164508.2(NEB):c.10792C>T (p.His3598Tyr)
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.10819C>A (p.Pro3607Thr) rs2098331597
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn)
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.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.11077-18_11077-17insTCTCTC
NM_001164508.2(NEB):c.11077-20_11077-19insCTC rs1553905611
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>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.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.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.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.1153-12T>G
NM_001164508.2(NEB):c.1153-18A>G
NM_001164508.2(NEB):c.11581G>A (p.Ala3861Thr)
NM_001164508.2(NEB):c.11585A>G (p.Tyr3862Cys)
NM_001164508.2(NEB):c.11612A>C (p.Lys3871Thr)
NM_001164508.2(NEB):c.11612A>T (p.Lys3871Ile)
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.11756A>G (p.Asp3919Gly) rs2098007899
NM_001164508.2(NEB):c.11836A>G (p.Lys3946Glu)
NM_001164508.2(NEB):c.11873T>C (p.Ile3958Thr)
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.11911-16A>G
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.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.12018C>T (p.Asp4006=)
NM_001164508.2(NEB):c.12019-9G>A
NM_001164508.2(NEB):c.12020A>C (p.Tyr4007Ser) rs758528247
NM_001164508.2(NEB):c.12020A>G (p.Tyr4007Cys) rs758528247
NM_001164508.2(NEB):c.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.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.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.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.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.12369C>G (p.Ile4123Met) 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.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.12535-3C>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.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.1273T>G (p.Ser425Ala) rs1270235018
NM_001164508.2(NEB):c.12747+5G>A rs1251007091
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.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.1293G>A (p.Leu431=)
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
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.13059+5G>A
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn) rs1466400136
NM_001164508.2(NEB):c.1315G>C (p.Glu439Gln)
NM_001164508.2(NEB):c.13263+4A>G rs2097566924
NM_001164508.2(NEB):c.13263+8C>T rs1553866957
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.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.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.13520T>C (p.Ile4507Thr) rs1553862732
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met) 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.13788+2dup rs2153902530
NM_001164508.2(NEB):c.1396A>G (p.Arg466Gly)
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.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+3A>T rs1576671314
NM_001164508.2(NEB):c.1570-13C>T
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.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.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.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.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.17118+15_17118+16del
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.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>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.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.17627T>C (p.Leu5876Pro) rs1181510782
NM_001164508.2(NEB):c.17629G>T (p.Asp5877Tyr)
NM_001164508.2(NEB):c.17635-16_17635-14del rs2153745540
NM_001164508.2(NEB):c.17635-17C>G
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.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.17845-11C>A
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.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.18037A>C (p.Lys6013Gln) rs2096448727
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.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.18188G>A (p.Arg6063Gln)
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.18406T>C (p.Tyr6136His)
NM_001164508.2(NEB):c.18407A>G (p.Tyr6136Cys)
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.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.18580-19T>C
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.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.18892-15CT[2]
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.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.19016G>A (p.Gly6339Asp)
NM_001164508.2(NEB):c.19030C>A (p.Gln6344Lys)
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.19144A>G (p.Thr6382Ala)
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001164508.2(NEB):c.19206+17T>C
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.19400G>C (p.Cys6467Ser) rs1577306997
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro) rs556624010
NM_001164508.2(NEB):c.19429C>A (p.Arg6477Ser)
NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys) rs765181095
NM_001164508.2(NEB):c.1948T>C (p.Cys650Arg)
NM_001164508.2(NEB):c.19495A>G (p.Met6499Val) rs2095482134
NM_001164508.2(NEB):c.19499T>G (p.Val6500Gly)
NM_001164508.2(NEB):c.1949G>A (p.Cys650Tyr)
NM_001164508.2(NEB):c.19529G>A (p.Ser6510Asn)
NM_001164508.2(NEB):c.1952A>T (p.Glu651Val) rs1553592436
NM_001164508.2(NEB):c.19534A>G (p.Ile6512Val) rs2095480638
NM_001164508.2(NEB):c.19583A>C (p.Gln6528Pro) rs2153660026
NM_001164508.2(NEB):c.19583A>G (p.Gln6528Arg)
NM_001164508.2(NEB):c.19603A>G (p.Lys6535Glu) rs898837153
NM_001164508.2(NEB):c.19624_19625insGTA (p.Asp6542delinsGlyAsn) rs2153659819
NM_001164508.2(NEB):c.19626+13C>T
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.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.19868T>G (p.Val6623Gly)
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.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.2013C>G (p.Asp671Glu)
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.20368-17C>T
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.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.20467-20_20467-19insG
NM_001164508.2(NEB):c.20467-3A>G rs1463738651
NM_001164508.2(NEB):c.2056G>A (p.Glu686Lys)
NM_001164508.2(NEB):c.20578-18A>G
NM_001164508.2(NEB):c.20578-20A>G rs2153575431
NM_001164508.2(NEB):c.20591C>T (p.Ala6864Val)
NM_001164508.2(NEB):c.20606A>T (p.Gln6869Leu)
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.20719C>T (p.His6907Tyr)
NM_001164508.2(NEB):c.20721T>A (p.His6907Gln) rs2093933909
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.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.21021G>A (p.Met7007Ile)
NM_001164508.2(NEB):c.21037T>G (p.Trp7013Gly) rs2153551039
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
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.2122G>A (p.Glu708Lys) rs1553587676
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.21329G>A (p.Ser7110Asn)
NM_001164508.2(NEB):c.21344T>C (p.Leu7115Pro) rs1003798007
NM_001164508.2(NEB):c.21348A>T (p.Gln7116His)
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu) rs1359338282
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro) rs2092301005
NM_001164508.2(NEB):c.21403C>T (p.His7135Tyr)
NM_001164508.2(NEB):c.21411G>C (p.Trp7137Cys) rs1343837039
NM_001164508.2(NEB):c.21417+3A>T
NM_001164508.2(NEB):c.2141G>A (p.Gly714Glu)
NM_001164508.2(NEB):c.21420C>G (p.Ile7140Met)
NM_001164508.2(NEB):c.21424T>C (p.Tyr7142His)
NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)
NM_001164508.2(NEB):c.21454A>G (p.Lys7152Glu) rs2153501624
NM_001164508.2(NEB):c.21457T>G (p.Phe7153Val) rs2153501601
NM_001164508.2(NEB):c.21469G>T (p.Val7157Leu) rs1576490497
NM_001164508.2(NEB):c.21484C>T (p.His7162Tyr)
NM_001164508.2(NEB):c.21490C>A (p.Arg7164Ser) rs771050596
NM_001164508.2(NEB):c.21491G>C (p.Arg7164Pro) rs16830171
NM_001164508.2(NEB):c.214A>G (p.Ile72Val) rs1553698165
NM_001164508.2(NEB):c.21519C>A (p.Ser7173Arg)
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn) rs1227689355
NM_001164508.2(NEB):c.21529T>C (p.Tyr7177His)
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
NM_001164508.2(NEB):c.21546C>A (p.Asn7182Lys) rs149510427
NM_001164508.2(NEB):c.21560G>C (p.Arg7187Thr)
NM_001164508.2(NEB):c.21563G>A (p.Gly7188Asp)
NM_001164508.2(NEB):c.21572C>G (p.Thr7191Arg)
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
NM_001164508.2(NEB):c.21599A>G (p.His7200Arg)
NM_001164508.2(NEB):c.21606C>T (p.Arg7202=) rs2153489433
NM_001164508.2(NEB):c.21609G>C (p.Lys7203Asn) rs2090430591
NM_001164508.2(NEB):c.21631-17del
NM_001164508.2(NEB):c.21631-7C>G
NM_001164508.2(NEB):c.21641AAG[1] (p.Glu7215del)
NM_001164508.2(NEB):c.21646G>A (p.Val7216Ile) rs2153475893
NM_001164508.2(NEB):c.2164A>G (p.Ile722Val)
NM_001164508.2(NEB):c.21668A>C (p.Asn7223Thr)
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
NM_001164508.2(NEB):c.21743A>G (p.Tyr7248Cys) rs2153463102
NM_001164508.2(NEB):c.21773A>G (p.His7258Arg)
NM_001164508.2(NEB):c.21794G>A (p.Arg7265Gln)
NM_001164508.2(NEB):c.21826C>A (p.Leu7276Met)
NM_001164508.2(NEB):c.2182G>A (p.Ala728Thr) rs1187124982
NM_001164508.2(NEB):c.21862G>A (p.Glu7288Lys) rs768693028
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
NM_001164508.2(NEB):c.21874G>C (p.Gly7292Arg)
NM_001164508.2(NEB):c.21879C>T (p.Cys7293=)
NM_001164508.2(NEB):c.21908C>G (p.Thr7303Arg) rs374819736
NM_001164508.2(NEB):c.21910G>A (p.Val7304Met)
NM_001164508.2(NEB):c.21919C>A (p.Leu7307Ile)
NM_001164508.2(NEB):c.21945T>C (p.Asp7315=)
NM_001164508.2(NEB):c.21980G>C (p.Gly7327Ala) rs751167749
NM_001164508.2(NEB):c.21982A>G (p.Thr7328Ala)
NM_001164508.2(NEB):c.21983C>A (p.Thr7328Asn)
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu) rs1559547106
NM_001164508.2(NEB):c.22025A>G (p.Lys7342Arg)
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met) rs200918570
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg) rs2085588572
NM_001164508.2(NEB):c.2211+4A>C rs2099553895
NM_001164508.2(NEB):c.2211T>C (p.Asp737=) rs765620977
NM_001164508.2(NEB):c.2212-12C>G
NM_001164508.2(NEB):c.2212-9_2212-7del rs2099542943
NM_001164508.2(NEB):c.22124C>T (p.Thr7375Ile) rs1195608964
NM_001164508.2(NEB):c.22161+17_22161+18delinsTC rs2153451799
NM_001164508.2(NEB):c.2216C>A (p.Thr739Asn) rs2099542868
NM_001164508.2(NEB):c.22173A>T (p.Lys7391Asn) rs2085025144
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser) rs2153447855
NM_001164508.2(NEB):c.22213A>G (p.Ile7405Val) rs2153447751
NM_001164508.2(NEB):c.22228C>T (p.Pro7410Ser)
NM_001164508.2(NEB):c.22233G>C (p.Glu7411Asp) rs1576243073
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
NM_001164508.2(NEB):c.22264C>G (p.Gln7422Glu) rs369642754
NM_001164508.2(NEB):c.22272+17A>G
NM_001164508.2(NEB):c.22273G>T (p.Val7425Phe) rs752028559
NM_001164508.2(NEB):c.22301A>C (p.Asn7434Thr)
NM_001164508.2(NEB):c.2230C>T (p.Pro744Ser)
NM_001164508.2(NEB):c.22313C>T (p.Thr7438Ile) rs2153439522
NM_001164508.2(NEB):c.22328G>A (p.Arg7443Gln)
NM_001164508.2(NEB):c.22328G>C (p.Arg7443Pro) rs2084210932
NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)
NM_001164508.2(NEB):c.22342A>G (p.Lys7448Glu)
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly) rs1436329266
NM_001164508.2(NEB):c.22351C>G (p.Gln7451Glu) rs2084197089
NM_001164508.2(NEB):c.22367C>T (p.Ala7456Val) rs2153439115
NM_001164508.2(NEB):c.22374+9del
NM_001164508.2(NEB):c.2240C>A (p.Thr747Asn)
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
NM_001164508.2(NEB):c.2243A>G (p.Lys748Arg)
NM_001164508.2(NEB):c.22447A>T (p.Met7483Leu)
NM_001164508.2(NEB):c.22456_22457delinsGC (p.Lys7486Ala)
NM_001164508.2(NEB):c.22466A>G (p.Lys7489Arg) rs2084038575
NM_001164508.2(NEB):c.22479+4A>C
NM_001164508.2(NEB):c.22500C>A (p.Phe7500Leu)
NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)
NM_001164508.2(NEB):c.22523C>T (p.Pro7508Leu) rs780741468
NM_001164508.2(NEB):c.22531A>G (p.Asn7511Asp) rs2153396290
NM_001164508.2(NEB):c.22532A>C (p.Asn7511Thr)
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg) rs376609115
NM_001164508.2(NEB):c.22555A>G (p.Lys7519Glu) rs2080605863
NM_001164508.2(NEB):c.22567G>C (p.Asp7523His) rs2153395893
NM_001164508.2(NEB):c.22591-17del
NM_001164508.2(NEB):c.22591-3C>T rs778824203
NM_001164508.2(NEB):c.22619T>C (p.Leu7540Pro)
NM_001164508.2(NEB):c.2263T>C (p.Ser755Pro)
NM_001164508.2(NEB):c.22676C>T (p.Thr7559Ile) rs2080067943
NM_001164508.2(NEB):c.22690A>G (p.Ser7564Gly) rs749222946
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del) rs760161843
NM_001164508.2(NEB):c.22747C>T (p.Pro7583Ser) rs2153380639
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.22754A>C (p.Asn7585Thr)
NM_001164508.2(NEB):c.22771C>A (p.Leu7591Ile)
NM_001164508.2(NEB):c.22841C>T (p.Pro7614Leu) rs1182955893
NM_001164508.2(NEB):c.22912T>C (p.Tyr7638His)
NM_001164508.2(NEB):c.22950C>G (p.Asn7650Lys) rs2153320948
NM_001164508.2(NEB):c.22991A>C (p.Lys7664Thr)
NM_001164508.2(NEB):c.23005A>C (p.Ile7669Leu)
NM_001164508.2(NEB):c.23016+3A>G rs1194138148
NM_001164508.2(NEB):c.23016+4G>A
NM_001164508.2(NEB):c.23028G>C (p.Arg7676Ser)
NM_001164508.2(NEB):c.23083C>T (p.Pro7695Ser)
NM_001164508.2(NEB):c.230A>G (p.Asp77Gly)
NM_001164508.2(NEB):c.23102A>G (p.Lys7701Arg)
NM_001164508.2(NEB):c.23168G>A (p.Arg7723Lys) rs947053462
NM_001164508.2(NEB):c.23182A>G (p.Met7728Val)
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val) rs1284612506
NM_001164508.2(NEB):c.23197_23205del (p.Pro7733_Phe7735del)
NM_001164508.2(NEB):c.23225C>G (p.Thr7742Ser)
NM_001164508.2(NEB):c.23230A>G (p.Ile7744Val) rs2075994673
NM_001164508.2(NEB):c.23233G>T (p.Ala7745Ser) rs1179461829
NM_001164508.2(NEB):c.23242A>G (p.Ile7748Val) rs767590150
NM_001164508.2(NEB):c.23288C>T (p.Ser7763Phe)
NM_001164508.2(NEB):c.23314C>T (p.His7772Tyr) rs2075487458
NM_001164508.2(NEB):c.23316T>A (p.His7772Gln)
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del) rs1553614214
NM_001164508.2(NEB):c.23338T>A (p.Ser7780Thr) rs1553614160
NM_001164508.2(NEB):c.23341A>G (p.Ser7781Gly) rs745794892
NM_001164508.2(NEB):c.23346+2dup rs2153272570
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu) rs2070773602
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn) rs780379101
NM_001164508.2(NEB):c.23405C>T (p.Thr7802Ile) rs780379101
NM_001164508.2(NEB):c.23480G>A (p.Ser7827Asn)
NM_001164508.2(NEB):c.2348A>G (p.Lys783Arg) rs2099519230
NM_001164508.2(NEB):c.23524C>A (p.Arg7842Ser) rs184516994
NM_001164508.2(NEB):c.2353C>A (p.His785Asn) rs2099519209
NM_001164508.2(NEB):c.23576T>A (p.Val7859Asp)
NM_001164508.2(NEB):c.23609A>T (p.Glu7870Val) rs1454960791
NM_001164508.2(NEB):c.23647T>C (p.Ser7883Pro)
NM_001164508.2(NEB):c.23648C>G (p.Ser7883Trp) rs202191938
NM_001164508.2(NEB):c.2368_2370dup (p.Ala790dup) rs2148990366
NM_001164508.2(NEB):c.23705T>C (p.Val7902Ala)
NM_001164508.2(NEB):c.23713G>A (p.Val7905Met)
NM_001164508.2(NEB):c.23731C>A (p.His7911Asn)
NM_001164508.2(NEB):c.23742G>A (p.Ser7914=)
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile) rs767404419
NM_001164508.2(NEB):c.23752A>G (p.Lys7918Glu) rs758478063
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup) rs778176240
NM_001164508.2(NEB):c.23765G>A (p.Gly7922Glu)
NM_001164508.2(NEB):c.23773A>G (p.Ile7925Val) rs1322894219
NM_001164508.2(NEB):c.23802G>C (p.Glu7934Asp)
NM_001164508.2(NEB):c.23827T>C (p.Phe7943Leu)
NM_001164508.2(NEB):c.23836-14C>T
NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg)
NM_001164508.2(NEB):c.23867T>C (p.Ile7956Thr) rs933996254
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp) rs975397268
NM_001164508.2(NEB):c.23889G>T (p.Glu7963Asp)
NM_001164508.2(NEB):c.2390G>T (p.Arg797Ile)
NM_001164508.2(NEB):c.23916G>C (p.Glu7972Asp)
NM_001164508.2(NEB):c.23926T>A (p.Ser7976Thr) rs2065743787
NM_001164508.2(NEB):c.23929-12_23929-11del
NM_001164508.2(NEB):c.23949G>C (p.Leu7983Phe) rs2153073370
NM_001164508.2(NEB):c.23955G>C (p.Lys7985Asn) rs1189932875
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala) rs2064473141
NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr) rs1064796521
NM_001164508.2(NEB):c.23992G>A (p.Val7998Ile)
NM_001164508.2(NEB):c.24022-10T>G
NM_001164508.2(NEB):c.24022-9_24022-8del
NM_001164508.2(NEB):c.24028T>C (p.Tyr8010His) rs555681348
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala) rs1323764871
NM_001164508.2(NEB):c.24071C>G (p.Pro8024Arg) rs2153021543
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly) rs2062685891
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser) rs946188918
NM_001164508.2(NEB):c.24107T>G (p.Phe8036Cys)
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu) rs1458048713
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.2415+6T>C rs760614044
NM_001164508.2(NEB):c.24158T>C (p.Ile8053Thr) rs2061739053
NM_001164508.2(NEB):c.24207+12_24207+16dup rs1559228786
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24208-7_24208-6insTAA
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup) rs781667543
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup) rs769252768
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24300+18G>C
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=) rs541126160
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup) rs1344099907
NM_001164508.2(NEB):c.2432A>T (p.Asp811Val) rs896028175
NM_001164508.2(NEB):c.24350C>G (p.Pro8117Arg)
NM_001164508.2(NEB):c.24393+14A>G
NM_001164508.2(NEB):c.24394G>C (p.Val8132Leu)
NM_001164508.2(NEB):c.24433G>A (p.Ala8145Thr)
NM_001164508.2(NEB):c.24451G>A (p.Glu8151Lys) rs1385464726
NM_001164508.2(NEB):c.24454C>G (p.Arg8152Gly) rs763364977
NM_001164508.2(NEB):c.24508G>A (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24508G>C (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24518C>T (p.Thr8173Ile)
NM_001164508.2(NEB):c.24536C>T (p.Pro8179Leu)
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr) rs2152874768
NM_001164508.2(NEB):c.24581T>A (p.Val8194Glu)
NM_001164508.2(NEB):c.24589A>G (p.Lys8197Glu)
NM_001164508.2(NEB):c.24608C>G (p.Ala8203Gly) rs2152863881
NM_001164508.2(NEB):c.24619C>A (p.Pro8207Thr)
NM_001164508.2(NEB):c.24625A>G (p.Thr8209Ala) rs1680474922
NM_001164508.2(NEB):c.24632A>C (p.Glu8211Ala) rs201243201
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile) rs770656983
NM_001164508.2(NEB):c.24657A>C (p.Gln8219His)
NM_001164508.2(NEB):c.24690C>G (p.Asn8230Lys) rs2058061871
NM_001164508.2(NEB):c.24700G>C (p.Ala8234Pro)
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile) rs369083039
NM_001164508.2(NEB):c.24722C>T (p.Pro8241Leu) rs2152851388
NM_001164508.2(NEB):c.24728T>G (p.Met8243Arg) rs778196202
NM_001164508.2(NEB):c.24731A>G (p.Glu8244Gly) rs2152851090
NM_001164508.2(NEB):c.24733A>G (p.Arg8245Gly) rs2058041442
NM_001164508.2(NEB):c.24764C>T (p.Ser8255Leu)
NM_001164508.2(NEB):c.24769C>T (p.Leu8257Phe)
NM_001164508.2(NEB):c.24772T>A (p.Tyr8258Asn)
NM_001164508.2(NEB):c.24775_24780del (p.Asp8260_Ser8261del)
NM_001164508.2(NEB):c.2477C>T (p.Ala826Val)
NM_001164508.2(NEB):c.24781A>G (p.Ser8261Gly)
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln) rs745615279
NM_001164508.2(NEB):c.24799C>G (p.Gln8267Glu) rs2152828559
NM_001164508.2(NEB):c.2479A>G (p.Ile827Val)
NM_001164508.2(NEB):c.24802G>A (p.Gly8268Ser)
NM_001164508.2(NEB):c.24817G>A (p.Val8273Ile)
NM_001164508.2(NEB):c.24829C>G (p.Pro8277Ala)
NM_001164508.2(NEB):c.24830C>A (p.Pro8277His) rs2152828148
NM_001164508.2(NEB):c.24832G>C (p.Glu8278Gln)
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys) rs759522039
NM_001164508.2(NEB):c.24845T>C (p.Val8282Ala)
NM_001164508.2(NEB):c.24857A>G (p.Gln8286Arg)
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val) rs2099513616
NM_001164508.2(NEB):c.24873G>T (p.Thr8291=)
NM_001164508.2(NEB):c.24875T>C (p.Val8292Ala)
NM_001164508.2(NEB):c.24907G>C (p.Gly8303Arg) rs780925059
NM_001164508.2(NEB):c.24908G>A (p.Gly8303Asp)
NM_001164508.2(NEB):c.24925G>C (p.Val8309Leu) rs1401528056
NM_001164508.2(NEB):c.24946C>G (p.Arg8316Gly)
NM_001164508.2(NEB):c.24949G>A (p.Val8317Ile) rs1341580706
NM_001164508.2(NEB):c.24971T>C (p.Phe8324Ser)
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr) rs775698655
NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)
NM_001164508.2(NEB):c.25007T>C (p.Val8336Ala) rs1574651626
NM_001164508.2(NEB):c.25010T>G (p.Val8337Gly) rs2057127460
NM_001164508.2(NEB):c.25021C>A (p.Gln8341Lys)
NM_001164508.2(NEB):c.25037A>G (p.Gln8346Arg) rs2057118708
NM_001164508.2(NEB):c.25049C>T (p.Thr8350Ile) rs2057112732
NM_001164508.2(NEB):c.25066G>A (p.Val8356Ile)
NM_001164508.2(NEB):c.25088C>T (p.Ser8363Leu)
NM_001164508.2(NEB):c.25099T>C (p.Tyr8367His)
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala) rs1038960610
NM_001164508.2(NEB):c.25130G>C (p.Arg8377Pro)
NM_001164508.2(NEB):c.25132A>G (p.Ser8378Gly)
NM_001164508.2(NEB):c.25153C>A (p.Gln8385Lys)
NM_001164508.2(NEB):c.25162C>A (p.Arg8388Ser)
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
NM_001164508.2(NEB):c.25180T>C (p.Ser8394Pro)
NM_001164508.2(NEB):c.25184G>T (p.Arg8395Leu) rs779983347
NM_001164508.2(NEB):c.25192A>G (p.Ser8398Gly) rs1308512715
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
NM_001164508.2(NEB):c.25214G>T (p.Gly8405Val) rs768811942
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
NM_001164508.2(NEB):c.2523+6T>C rs2099513341
NM_001164508.2(NEB):c.2524-12A>G
NM_001164508.2(NEB):c.25255C>T (p.Leu8419Phe)
NM_001164508.2(NEB):c.25297+4C>T rs1410859190
NM_001164508.2(NEB):c.25304A>G (p.Lys8435Arg)
NM_001164508.2(NEB):c.25360C>T (p.Gln8454Ter)
NM_001164508.2(NEB):c.25361A>G (p.Gln8454Arg)
NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala) rs2152762849
NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr) rs1280701887
NM_001164508.2(NEB):c.2542T>C (p.Tyr848His)
NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)
NM_001164508.2(NEB):c.25447G>C (p.Asp8483His) rs993833092
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)
NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn) rs1574251962
NM_001164508.2(NEB):c.254A>G (p.Tyr85Cys) rs1201662596
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)
NM_001164508.2(NEB):c.2552G>A (p.Ser851Asn)
NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp) rs2152614968
NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe) rs117861109
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.2833G>A (p.Asp945Asn)
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr) rs549231016
NM_001164508.2(NEB):c.2835+20G>A
NM_001164508.2(NEB):c.2835+5G>C rs2148837364
NM_001164508.2(NEB):c.2835+7A>T
NM_001164508.2(NEB):c.2866A>T (p.Met956Leu)
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.296A>T (p.Asn99Ile)
NM_001164508.2(NEB):c.2975A>T (p.Lys992Met)
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.3147+14C>T
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>T (p.Ala1070Val) rs371710158
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.3286A>G (p.Lys1096Glu)
NM_001164508.2(NEB):c.3320A>T (p.Asp1107Val)
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.3428T>A (p.Met1143Lys) rs1428000725
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.3551T>C (p.Met1184Thr) rs1308063415
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.3662A>G (p.Asp1221Gly)
NM_001164508.2(NEB):c.3664G>T (p.Ala1222Ser)
NM_001164508.2(NEB):c.3677A>G (p.Lys1226Arg) rs2099381015
NM_001164508.2(NEB):c.3681G>T (p.Lys1227Asn)
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.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.3807A>C (p.Lys1269Asn)
NM_001164508.2(NEB):c.3853A>G (p.Lys1285Glu)
NM_001164508.2(NEB):c.3869A>G (p.Asn1290Ser)
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
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.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.4119C>A (p.Asn1373Lys) rs377653217
NM_001164508.2(NEB):c.4144C>G (p.His1382Asp) rs2099313352
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.4300-3C>T rs2154190807
NM_001164508.2(NEB):c.4325G>T (p.Ser1442Ile)
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.4462A>G (p.Met1488Val)
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.4498C>T (p.Leu1500=)
NM_001164508.2(NEB):c.4506+4A>G
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.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.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.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.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.5030A>G (p.Asp1677Gly)
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.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.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.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.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.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.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.5836G>A (p.Glu1946Lys)
NM_001164508.2(NEB):c.5843A>T (p.Asn1948Ile) rs2154168814
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.5971-12T>C
NM_001164508.2(NEB):c.5973T>A (p.His1991Gln)
NM_001164508.2(NEB):c.5985A>G (p.Gln1995=) rs2099118542
NM_001164508.2(NEB):c.5986G>A (p.Ala1996Thr)
NM_001164508.2(NEB):c.5986G>C (p.Ala1996Pro)
NM_001164508.2(NEB):c.5987C>A (p.Ala1996Glu)
NM_001164508.2(NEB):c.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.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6075+8T>C
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.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.6184-17_6184-16del
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.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.6568G>A (p.Glu2190Lys) rs2099082027
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
NM_001164508.2(NEB):c.6591A>G (p.Glu2197=) rs1553462437
NM_001164508.2(NEB):c.6629A>C (p.Asn2210Thr) 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.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.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.6961G>A (p.Gly2321Arg) rs1575132924
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.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001164508.2(NEB):c.7144A>G (p.Lys2382Glu)
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg) rs2099020273
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.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.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>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.7523T>C (p.Ile2508Thr)
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.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.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.7956+13T>C
NM_001164508.2(NEB):c.7957-13C>G
NM_001164508.2(NEB):c.7957-20T>A
NM_001164508.2(NEB):c.7957-7C>T
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.7968G>C (p.Lys2656Asn)
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.8047C>A (p.Gln2683Lys) rs2154114662
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.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.8341G>T (p.Ala2781Ser) rs1160244999
NM_001164508.2(NEB):c.8344_8345delinsTT (p.Ala2782Phe)
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.8374-10C>A
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.8485G>A (p.Asp2829Asn)
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp) rs2098833761
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.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.8685+3G>A
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.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.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.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.8891G>A (p.Arg2964His)
NM_001164508.2(NEB):c.8897A>G (p.Tyr2966Cys) rs1560822452
NM_001164508.2(NEB):c.8982C>G (p.Ile2994Met) rs1251791997
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.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.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.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.9643A>G (p.Lys3215Glu)
NM_001164508.2(NEB):c.9659T>G (p.Ile3220Ser) rs2098651541
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.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_001271208.1(NEB):c.21213_21218del rs1553683577
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly) rs2105307804
NM_006063.3(KLHL41):c.1055G>T (p.Gly352Val)
NM_006063.3(KLHL41):c.1076A>G (p.Asn359Ser)
NM_006063.3(KLHL41):c.1081G>T (p.Asp361Tyr)
NM_006063.3(KLHL41):c.1110+6_1110+8del rs1186579373
NM_006063.3(KLHL41):c.1114G>C (p.Asp372His)
NM_006063.3(KLHL41):c.1116T>C (p.Asp372=) rs762618255
NM_006063.3(KLHL41):c.1135G>A (p.Val379Ile) rs751438442
NM_006063.3(KLHL41):c.1183G>A (p.Glu395Lys) rs1684085913
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr) rs1574351200
NM_006063.3(KLHL41):c.1202A>G (p.Tyr401Cys) rs2105309733
NM_006063.3(KLHL41):c.1205T>C (p.Val402Ala) rs1684086471
NM_006063.3(KLHL41):c.1225C>G (p.Gln409Glu) rs1168210084
NM_006063.3(KLHL41):c.1268T>C (p.Val423Ala) rs1225657950
NM_006063.3(KLHL41):c.1273G>A (p.Ala425Thr) rs1451090688
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) rs750512280
NM_006063.3(KLHL41):c.1313A>G (p.Tyr438Cys)
NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln) rs940791315
NM_006063.3(KLHL41):c.1393G>A (p.Val465Met)
NM_006063.3(KLHL41):c.1393G>T (p.Val465Leu)
NM_006063.3(KLHL41):c.1409C>T (p.Pro470Leu) rs779897118
NM_006063.3(KLHL41):c.1412A>G (p.Lys471Arg)
NM_006063.3(KLHL41):c.1438C>T (p.Pro480Ser)
NM_006063.3(KLHL41):c.1464T>G (p.Phe488Leu) rs2105311166
NM_006063.3(KLHL41):c.1468G>A (p.Val490Ile)
NM_006063.3(KLHL41):c.146T>C (p.Leu49Ser) rs1684003271
NM_006063.3(KLHL41):c.1477C>T (p.His493Tyr) rs2105311181
NM_006063.3(KLHL41):c.1528G>C (p.Ala510Pro)
NM_006063.3(KLHL41):c.1580A>G (p.Glu527Gly) rs2105312517
NM_006063.3(KLHL41):c.1590A>G (p.Gln530=)
NM_006063.3(KLHL41):c.1603A>T (p.Ile535Phe) rs2105312532
NM_006063.3(KLHL41):c.1624G>C (p.Gly542Arg)
NM_006063.3(KLHL41):c.1654A>G (p.Met552Val)
NM_006063.3(KLHL41):c.1662A>T (p.Gln554His) rs747439201
NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser) rs1684004022
NM_006063.3(KLHL41):c.1717GAT[3] (p.Asp574dup) rs765973620
NM_006063.3(KLHL41):c.1789C>A (p.Arg597Ser) rs1033276582
NM_006063.3(KLHL41):c.199G>C (p.Asp67His) rs1446324489
NM_006063.3(KLHL41):c.223G>A (p.Val75Met)
NM_006063.3(KLHL41):c.229G>C (p.Asp77His) rs1222243445
NM_006063.3(KLHL41):c.22G>A (p.Ala8Thr) rs1684001399
NM_006063.3(KLHL41):c.233A>G (p.Asn78Ser)
NM_006063.3(KLHL41):c.241C>T (p.Pro81Ser)
NM_006063.3(KLHL41):c.266A>G (p.Lys89Arg)
NM_006063.3(KLHL41):c.314A>G (p.Asp105Gly)
NM_006063.3(KLHL41):c.318T>G (p.Ile106Met) rs1684007542
NM_006063.3(KLHL41):c.335G>A (p.Arg112His)
NM_006063.3(KLHL41):c.376C>G (p.Leu126Val)
NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr) rs1202015569
NM_006063.3(KLHL41):c.427CTT[2] (p.Leu145del) rs760524187
NM_006063.3(KLHL41):c.431T>C (p.Leu144Pro)
NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr) rs1684010288
NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)
NM_006063.3(KLHL41):c.464G>A (p.Arg155His)
NM_006063.3(KLHL41):c.495T>G (p.Ile165Met)
NM_006063.3(KLHL41):c.50C>G (p.Thr17Ser)
NM_006063.3(KLHL41):c.519A>T (p.Gln173His) rs144844327
NM_006063.3(KLHL41):c.524C>G (p.Ser175Cys) rs1684011448
NM_006063.3(KLHL41):c.52C>T (p.Leu18Phe)
NM_006063.3(KLHL41):c.539T>A (p.Ile180Asn)
NM_006063.3(KLHL41):c.558C>G (p.Asp186Glu)
NM_006063.3(KLHL41):c.61G>C (p.Asp21His)
NM_006063.3(KLHL41):c.631A>G (p.Arg211Gly) rs1684012984
NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala) rs780361528
NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser) rs2105308096
NM_006063.3(KLHL41):c.734A>T (p.Asn245Ile) rs1684014413
NM_006063.3(KLHL41):c.73G>A (p.Asp25Asn)
NM_006063.3(KLHL41):c.73G>T (p.Asp25Tyr)
NM_006063.3(KLHL41):c.743T>C (p.Leu248Pro) rs1684014498
NM_006063.3(KLHL41):c.769G>C (p.Asp257His) rs916111973
NM_006063.3(KLHL41):c.784A>G (p.Lys262Glu) rs759037384
NM_006063.3(KLHL41):c.807T>A (p.Asn269Lys) rs1684016282
NM_006063.3(KLHL41):c.869G>A (p.Gly290Asp)
NM_006063.3(KLHL41):c.869G>C (p.Gly290Ala)
NM_006063.3(KLHL41):c.931G>A (p.Asp311Asn)
NM_006063.3(KLHL41):c.935C>T (p.Thr312Ile)
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) rs781536513
NM_152263.4(TPM3):c.118-3T>C rs375206251
NM_152263.4(TPM3):c.118-3_118-2del
NM_152263.4(TPM3):c.118C>G (p.Leu40Val) rs1160675914
NM_152263.4(TPM3):c.118C>T (p.Leu40=)
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn) rs1663671899
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys) rs2148294608
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)
NM_152263.4(TPM3):c.212A>T (p.Lys71Met) rs2148294477
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del) rs2148294430
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn) rs2148257542
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln) rs769493959
NM_152263.4(TPM3):c.412G>C (p.Asp138His) rs2148242185
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr) rs199474714
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly) rs1661790334
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met) rs2148235398
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)
NM_152263.4(TPM3):c.705+12G>T
NM_152263.4(TPM3):c.706-2dup rs1085307588
NM_152263.4(TPM3):c.706-3C>T rs750493083
NM_152263.4(TPM3):c.706-6C>T rs1661447571
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys) rs1661445206
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
NM_152263.4(TPM3):c.760A>G (p.Ile254Val) rs1553248513
NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)
NM_152263.4(TPM3):c.775+6G>T
NM_152263.4(TPM3):c.776-18G>T
NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys) rs1663696530
NM_152263.4(TPM3):c.88C>G (p.Gln30Glu) rs1160965388
NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)

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