ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1645
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HGVS dbSNP
NC_000001.10:g.(?_154163642)_(154164514_?)del
NC_000002.11:g.(?_152352780)_(152354242_?)del
NC_000002.11:g.(?_152353435)_(152353567_?)del
NC_000002.11:g.(?_152353435)_(152354252_?)del
NC_000002.11:g.(?_152502272)_(152504773_?)del
NC_000002.11:g.(?_152502624)_(152502768_?)del
NC_000002.11:g.(?_152502634)_(152502758_?)del
NEB, 2-BP DEL, AG, EX172
NEB, 2-BP DEL, GA, EX181 rs1559154278
NM_001100.3(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.3(ACTA1):c.1003C>G (p.Pro335Ala) rs1558081384
NM_001100.3(ACTA1):c.1004C>T (p.Pro335Leu)
NM_001100.3(ACTA1):c.1014A>C (p.Lys338Asn) rs1553255306
NM_001100.3(ACTA1):c.1031G>A (p.Gly344Asp) rs1558081360
NM_001100.3(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.3(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.3(ACTA1):c.1075A>C (p.Ile359Leu) rs121909524
NM_001100.3(ACTA1):c.109G>C (p.Val37Leu)
NM_001100.3(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.3(ACTA1):c.1109C>A (p.Ser370Tyr) rs1553255290
NM_001100.3(ACTA1):c.1123A>G (p.Lys375Glu)
NM_001100.3(ACTA1):c.1125A>G (p.Lys375=) rs142311664
NM_001100.3(ACTA1):c.1132T>C (p.Ter378Gln) rs1553255288
NM_001100.3(ACTA1):c.121C>G (p.Arg41Gly)
NM_001100.3(ACTA1):c.130-9G>T rs1553255511
NM_001100.3(ACTA1):c.132C>T (p.Gly44=) rs146956806
NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.3(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.3(ACTA1):c.146T>G (p.Met49Arg) rs1553255506
NM_001100.3(ACTA1):c.148G>T (p.Gly50Cys) rs1558082103
NM_001100.3(ACTA1):c.168G>A (p.Val56=)
NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.3(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.3(ACTA1):c.24C>A (p.Thr8=) rs762659680
NM_001100.3(ACTA1):c.275_277del (p.Phe92del) rs1558082053
NM_001100.3(ACTA1):c.283G>A (p.Glu95Lys)
NM_001100.3(ACTA1):c.287T>C (p.Leu96Pro) rs121909519
NM_001100.3(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.3(ACTA1):c.36C>A (p.Cys12Ter)
NM_001100.3(ACTA1):c.37G>A (p.Asp13Asn)
NM_001100.3(ACTA1):c.389A>G (p.Asn130Ser) rs766934634
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.3(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001100.3(ACTA1):c.414C>G (p.Ile138Met) rs121909526
NM_001100.3(ACTA1):c.419C>G (p.Ala140Gly) rs1435160117
NM_001100.3(ACTA1):c.425T>C (p.Leu142Pro) rs1553255482
NM_001100.3(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.3(ACTA1):c.449C>G (p.Thr150Ser) rs1553255479
NM_001100.3(ACTA1):c.453C>A (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.453C>T (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.3(ACTA1):c.461_478del (p.Val154_Asp159del) rs1553255444
NM_001100.3(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.3(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.3(ACTA1):c.493G>T (p.Val165Leu) rs121909522
NM_001100.3(ACTA1):c.515C>A (p.Ala172Glu) rs587780272
NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) rs1057519311
NM_001100.3(ACTA1):c.529A>G (p.Ile177Val) rs1558081804
NM_001100.3(ACTA1):c.539T>C (p.Leu180Pro) rs1558081797
NM_001100.3(ACTA1):c.553C>T (p.Arg185Cys) rs1064794287
NM_001100.3(ACTA1):c.557A>G (p.Asp186Gly)
NM_001100.3(ACTA1):c.598T>A (p.Tyr200Asn) rs1553255432
NM_001100.3(ACTA1):c.606C>A (p.Phe202Leu) rs1255258064
NM_001100.3(ACTA1):c.616+1G>A rs111812550
NM_001100.3(ACTA1):c.616G>A (p.Ala206Thr) rs1057521119
NM_001100.3(ACTA1):c.617-5C>T rs199804338
NM_001100.3(ACTA1):c.617C>T (p.Ala206Val)
NM_001100.3(ACTA1):c.645G>A (p.Lys215=) rs1553255420
NM_001100.3(ACTA1):c.659A>T (p.Tyr220Phe)
NM_001100.3(ACTA1):c.660C>A (p.Tyr220Ter) rs201823652
NM_001100.3(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100.3(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.3(ACTA1):c.685A>T (p.Met229Leu)
NM_001100.3(ACTA1):c.712del (p.Leu238fs)
NM_001100.3(ACTA1):c.713T>C (p.Leu238Pro)
NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.3(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.796C>T (p.Pro266Ser) rs1553255405
NM_001100.3(ACTA1):c.803T>C (p.Phe268Ser) rs1558081605
NM_001100.3(ACTA1):c.808+6C>A rs200342114
NM_001100.3(ACTA1):c.808G>C (p.Gly270Arg) rs121909525
NM_001100.3(ACTA1):c.808G>T (p.Gly270Cys) rs121909525
NM_001100.3(ACTA1):c.809-2A>T rs1301902450
NM_001100.3(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001100.3(ACTA1):c.80A>G (p.Asp27Gly) rs1553255534
NM_001100.3(ACTA1):c.811A>G (p.Met271Val) rs1553255361
NM_001100.3(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.3(ACTA1):c.821C>A (p.Ala274Glu)
NM_001100.3(ACTA1):c.82G>C (p.Ala28Pro)
NM_001100.3(ACTA1):c.84_85insT (p.Pro29fs) rs753923758
NM_001100.3(ACTA1):c.897C>A (p.Asn299Lys)
NM_001100.3(ACTA1):c.898G>T (p.Val300Phe) rs1553255349
NM_001100.3(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.3(ACTA1):c.963_968del (p.Leu322_Ala323del) rs1553255336
NM_001100.3(ACTA1):c.965T>A (p.Leu322Gln)
NM_001100.3(ACTA1):c.981G>C (p.Met327Ile) rs1553255334
NM_001100.3(ACTA1):c.984G>C (p.Lys328Asn) rs398122936
NM_001100.3(ACTA1):c.990+1G>T rs372686280
NM_001100.3(ACTA1):c.996C>A (p.Ile332=) rs74897770
NM_001100.3(ACTA1):c.[222G>T;223C>T]
NM_001101362.2(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223
NM_001101362.2(KBTBD13):c.1026T>G (p.Tyr342Ter) rs760601340
NM_001101362.2(KBTBD13):c.1042del (p.Ala348fs) rs760102500
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1112G>C (p.Cys371Ser)
NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) rs116623596
NM_001101362.2(KBTBD13):c.115G>C (p.Gly39Arg) rs201420126
NM_001101362.2(KBTBD13):c.1170G>C (p.Lys390Asn)
NM_001101362.2(KBTBD13):c.117C>T (p.Gly39=) rs367684457
NM_001101362.2(KBTBD13):c.1184C>T (p.Thr395Met)
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys) rs387907090
NM_001101362.2(KBTBD13):c.122G>A (p.Arg41Gln) rs760757402
NM_001101362.2(KBTBD13):c.1240T>C (p.Tyr414His) rs1555407759
NM_001101362.2(KBTBD13):c.1248C>G (p.Ile416Met) rs1291680168
NM_001101362.2(KBTBD13):c.1294C>T (p.Arg432Trp)
NM_001101362.2(KBTBD13):c.1297C>T (p.Pro433Ser) rs1555407773
NM_001101362.2(KBTBD13):c.1341T>C (p.Ala447=) rs1298809117
NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369
NM_001101362.2(KBTBD13):c.1372C>T (p.Leu458=) rs959915743
NM_001101362.2(KBTBD13):c.146G>T (p.Arg49Leu) rs1027726798
NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635
NM_001101362.2(KBTBD13):c.164C>T (p.Ala55Val)
NM_001101362.2(KBTBD13):c.167G>A (p.Gly56Glu) rs1242559901
NM_001101362.2(KBTBD13):c.168A>C (p.Gly56=) rs1339755233
NM_001101362.2(KBTBD13):c.170del (p.Gly57fs) rs1555407559
NM_001101362.2(KBTBD13):c.171T>C (p.Gly57=) rs369379657
NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658
NM_001101362.2(KBTBD13):c.189G>A (p.Gln63=) rs777062916
NM_001101362.2(KBTBD13):c.205C>T (p.Arg69Trp) rs530722554
NM_001101362.2(KBTBD13):c.206G>A (p.Arg69Gln) rs762769253
NM_001101362.2(KBTBD13):c.209C>T (p.Pro70Leu) rs766269932
NM_001101362.2(KBTBD13):c.214C>T (p.Leu72=) rs550537101
NM_001101362.2(KBTBD13):c.217G>A (p.Ala73Thr)
NM_001101362.2(KBTBD13):c.224A>C (p.Glu75Ala)
NM_001101362.2(KBTBD13):c.229_271dup (p.Pro91fs)
NM_001101362.2(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) rs115182478
NM_001101362.2(KBTBD13):c.247G>C (p.Glu83Gln) rs781438362
NM_001101362.2(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767
NM_001101362.2(KBTBD13):c.261C>T (p.Phe87=) rs770172865
NM_001101362.2(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454
NM_001101362.2(KBTBD13):c.272C>A (p.Pro91Gln)
NM_001101362.2(KBTBD13):c.276G>C (p.Ala92=) rs566529505
NM_001101362.2(KBTBD13):c.288T>G (p.Phe96Leu) rs759474251
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001101362.2(KBTBD13):c.2T>G (p.Met1Arg) rs374196960
NM_001101362.2(KBTBD13):c.308C>T (p.Ser103Leu) rs1235549563
NM_001101362.2(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902
NM_001101362.2(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.2(KBTBD13):c.348C>A (p.Phe116Leu) rs1222501717
NM_001101362.2(KBTBD13):c.359del (p.Asp120fs) rs903604256
NM_001101362.2(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.2(KBTBD13):c.361G>C (p.Val121Leu) rs201466173
NM_001101362.2(KBTBD13):c.374C>G (p.Ala125Gly) rs575149903
NM_001101362.2(KBTBD13):c.375C>G (p.Ala125=) rs540939027
NM_001101362.2(KBTBD13):c.387C>G (p.Ile129Met) rs1246047806
NM_001101362.2(KBTBD13):c.393C>A (p.Asp131Glu) rs544721592
NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171
NM_001101362.2(KBTBD13):c.411G>A (p.Ala137=) rs944865368
NM_001101362.2(KBTBD13):c.43G>A (p.Gly15Ser)
NM_001101362.2(KBTBD13):c.470A>T (p.Tyr157Phe)
NM_001101362.2(KBTBD13):c.471C>T (p.Tyr157=) rs550724858
NM_001101362.2(KBTBD13):c.477C>G (p.Ala159=) rs1052175397
NM_001101362.2(KBTBD13):c.477del (p.Ala159_Val160insTer) rs1555407608
NM_001101362.2(KBTBD13):c.491C>G (p.Thr164Arg) rs1404956647
NM_001101362.2(KBTBD13):c.521C>G (p.Ser174Trp)
NM_001101362.2(KBTBD13):c.521C>T (p.Ser174Leu)
NM_001101362.2(KBTBD13):c.542A>C (p.Asp181Ala)
NM_001101362.2(KBTBD13):c.543C>G (p.Asp181Glu)
NM_001101362.2(KBTBD13):c.557C>T (p.Ala186Val)
NM_001101362.2(KBTBD13):c.576G>C (p.Ala192=) rs1490959556
NM_001101362.2(KBTBD13):c.607G>C (p.Gly203Arg)
NM_001101362.2(KBTBD13):c.607_615del (p.Gly203_Ala205del)
NM_001101362.2(KBTBD13):c.646G>A (p.Gly216Ser)
NM_001101362.2(KBTBD13):c.64C>G (p.Arg22Gly) rs1193653136
NM_001101362.2(KBTBD13):c.670G>A (p.Val224Met)
NM_001101362.2(KBTBD13):c.702C>G (p.Asp234Glu)
NM_001101362.2(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.2(KBTBD13):c.729C>G (p.Ser243Arg)
NM_001101362.2(KBTBD13):c.739C>A (p.Pro247Thr)
NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.2(KBTBD13):c.769G>A (p.Asp257Asn) rs568675071
NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) rs568675071
NM_001101362.2(KBTBD13):c.775C>T (p.Arg259Cys)
NM_001101362.2(KBTBD13):c.778C>T (p.Leu260Phe) rs769416249
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101362.2(KBTBD13):c.810G>C (p.Thr270=) rs912566376
NM_001101362.2(KBTBD13):c.815T>A (p.Ile272Asn) rs558291810
NM_001101362.2(KBTBD13):c.823G>C (p.Val275Leu) rs1566960251
NM_001101362.2(KBTBD13):c.881C>T (p.Pro294Leu)
NM_001101362.2(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272
NM_001101362.2(KBTBD13):c.900C>T (p.Cys300=) rs778682102
NM_001101362.2(KBTBD13):c.925G>C (p.Val309Leu) rs532324778
NM_001101362.2(KBTBD13):c.938G>T (p.Arg313Leu) rs1399367095
NM_001101362.2(KBTBD13):c.947A>C (p.Asp316Ala)
NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) rs368781046
NM_001101362.2(KBTBD13):c.958G>T (p.Val320Leu) rs367648853
NM_001101362.2(KBTBD13):c.977G>C (p.Arg326Pro) rs779729198
NM_001101362.2(KBTBD13):c.981C>G (p.Thr327=) rs184130258
NM_001101362.2(KBTBD13):c.985G>T (p.Ala329Ser)
NM_001101362.2(KBTBD13):c.98G>A (p.Arg33Gln) rs200548009
NM_001101362.2(KBTBD13):c.98G>C (p.Arg33Pro)
NM_001101362.2(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021
NM_001271208.1(NEB):c.21103delG (p.Val7035Terfs) rs1553686994
NM_001271208.1(NEB):c.21213_21218del (p.Tyr7072_Lys7073del) rs1553683577
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001271208.1(NEB):c.25509+1_25509+2ins5 rs1357452519
NM_001271208.1(NEB):c.25639_25640ins21 (p.?) rs1211056097
NM_001271208.1(NEB):c.7523_7526del rs878854368
NM_001271208.1(NEB):c.7651_7656del6 (p.Tyr2551_Lys2552del) rs1553983947
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
NM_001271208.2(NEB):c.10021G>T (p.Ala3341Ser)
NM_001271208.2(NEB):c.10026G>C (p.Lys3342Asn)
NM_001271208.2(NEB):c.10029G>C (p.Lys3343Asn)
NM_001271208.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791
NM_001271208.2(NEB):c.10075G>A (p.Glu3359Lys)
NM_001271208.2(NEB):c.10080G>T (p.Trp3360Cys)
NM_001271208.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745
NM_001271208.2(NEB):c.10127A>G (p.Tyr3376Cys) rs754298562
NM_001271208.2(NEB):c.10140C>T (p.Ser3380=) rs199870629
NM_001271208.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449
NM_001271208.2(NEB):c.10144-10_10144-9delinsG rs1553928417
NM_001271208.2(NEB):c.1015G>A (p.Ala339Thr)
NM_001271208.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104
NM_001271208.2(NEB):c.10196T>C (p.Ile3399Thr) rs377734027
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10213G>T (p.Val3405Phe) rs1553927988
NM_001271208.2(NEB):c.10217A>G (p.Lys3406Arg)
NM_001271208.2(NEB):c.10223A>G (p.Lys3408Arg)
NM_001271208.2(NEB):c.10228G>A (p.Ala3410Thr)
NM_001271208.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034
NM_001271208.2(NEB):c.10231G>T (p.Ala3411Ser)
NM_001271208.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787
NM_001271208.2(NEB):c.10269G>A (p.Pro3423=) rs368719373
NM_001271208.2(NEB):c.10338T>C (p.Asn3446=) rs147569843
NM_001271208.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963
NM_001271208.2(NEB):c.10344C>T (p.Asn3448=) rs145052299
NM_001271208.2(NEB):c.10347+6C>T rs141088433
NM_001271208.2(NEB):c.10348C>T (p.Arg3450Cys)
NM_001271208.2(NEB):c.1035+6A>G
NM_001271208.2(NEB):c.1035+7G>A rs748388746
NM_001271208.2(NEB):c.10433A>G (p.Asn3478Ser)
NM_001271208.2(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.2(NEB):c.10452+5G>A
NM_001271208.2(NEB):c.10452+9A>G rs117270796
NM_001271208.2(NEB):c.10463G>A (p.Arg3488His) rs371605774
NM_001271208.2(NEB):c.10493del (p.Gly3498fs)
NM_001271208.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
NM_001271208.2(NEB):c.10560+1G>A rs1553915731
NM_001271208.2(NEB):c.10578A>G (p.Ala3526=) rs760118695
NM_001271208.2(NEB):c.10583G>A (p.Arg3528His) rs199584268
NM_001271208.2(NEB):c.10609G>A (p.Ala3537Thr) rs556492694
NM_001271208.2(NEB):c.10660A>G (p.Lys3554Glu) rs1553912139
NM_001271208.2(NEB):c.10676G>A (p.Arg3559His)
NM_001271208.2(NEB):c.10706A>G (p.Lys3569Arg)
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.107_109CAA[1] (p.Thr37del) rs1553698850
NM_001271208.2(NEB):c.10802A>G (p.His3601Arg) rs371568550
NM_001271208.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal)
NM_001271208.2(NEB):c.10816C>T (p.Leu3606=) rs1188058379
NM_001271208.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001271208.2(NEB):c.10833_10835CAT[1] (p.Ile3613del) rs773748212
NM_001271208.2(NEB):c.10856A>G (p.Tyr3619Cys)
NM_001271208.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107
NM_001271208.2(NEB):c.10861C>G (p.Leu3621Val)
NM_001271208.2(NEB):c.10872+1G>T rs1336053002
NM_001271208.2(NEB):c.10899G>A (p.Trp3633Ter)
NM_001271208.2(NEB):c.10913G>T (p.Gly3638Val)
NM_001271208.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001271208.2(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11054dup (p.Asn3685fs)
NM_001271208.2(NEB):c.11067C>T (p.Asn3689=) rs200427401
NM_001271208.2(NEB):c.11072A>G (p.Asn3691Ser)
NM_001271208.2(NEB):c.11076+1G>A rs1460365350
NM_001271208.2(NEB):c.11077-1G>A
NM_001271208.2(NEB):c.11077-4G>T rs878924060
NM_001271208.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958
NM_001271208.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191
NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364
NM_001271208.2(NEB):c.11181+2T>C rs1553904694
NM_001271208.2(NEB):c.11181+3A>G rs1448725511
NM_001271208.2(NEB):c.11199T>C (p.Ala3733=) rs756871030
NM_001271208.2(NEB):c.11215A>C (p.Lys3739Gln) rs267598922
NM_001271208.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086
NM_001271208.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397
NM_001271208.2(NEB):c.11289+1G>C rs1553901249
NM_001271208.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn) rs1553898232
NM_001271208.2(NEB):c.11300A>G (p.Lys3767Arg)
NM_001271208.2(NEB):c.11312G>T (p.Arg3771Leu)
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.2(NEB):c.11440A>G (p.Lys3814Glu) rs1553897365
NM_001271208.2(NEB):c.11450G>A (p.Ser3817Asn) rs776337697
NM_001271208.2(NEB):c.11467G>C (p.Gly3823Arg)
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.1152+5G>A rs111404077
NM_001271208.2(NEB):c.1152C>T (p.Asp384=)
NM_001271208.2(NEB):c.1153-2A>G rs1553609515
NM_001271208.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001271208.2(NEB):c.11602-2A>C rs1553891733
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.1162A>G (p.Lys388Glu) rs1159204491
NM_001271208.2(NEB):c.11654T>A (p.Ile3885Asn)
NM_001271208.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078
NM_001271208.2(NEB):c.11709G>A (p.Arg3903=) rs570142622
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001271208.2(NEB):c.11769T>C (p.Ile3923=) rs80320923
NM_001271208.2(NEB):c.11777C>G (p.Ala3926Gly)
NM_001271208.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127
NM_001271208.2(NEB):c.11806-7C>A rs779713133
NM_001271208.2(NEB):c.11850C>T (p.His3950=) rs777244382
NM_001271208.2(NEB):c.1187C>T (p.Ala396Val)
NM_001271208.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
NM_001271208.2(NEB):c.11909_11910+4del rs1553886582
NM_001271208.2(NEB):c.11910+1G>A rs774495973
NM_001271208.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838
NM_001271208.2(NEB):c.11974A>G (p.Ile3992Val) rs1465332264
NM_001271208.2(NEB):c.11980A>G (p.Ile3994Val)
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.2(NEB):c.12074G>T (p.Ser4025Ile) rs767858255
NM_001271208.2(NEB):c.1209G>T (p.Glu403Asp)
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609
NM_001271208.2(NEB):c.12147G>A (p.Lys4049=) rs149639365
NM_001271208.2(NEB):c.12160del (p.Trp4054fs)
NM_001271208.2(NEB):c.12176C>G (p.Ser4059Cys)
NM_001271208.2(NEB):c.12200T>C (p.Ile4067Thr)
NM_001271208.2(NEB):c.1221C>G (p.Phe407Leu) rs1033938609
NM_001271208.2(NEB):c.12234T>A (p.Thr4078=) rs752937326
NM_001271208.2(NEB):c.12239T>C (p.Ile4080Thr)
NM_001271208.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341
NM_001271208.2(NEB):c.12248G>A (p.Arg4083His)
NM_001271208.2(NEB):c.12251A>G (p.Asn4084Ser)
NM_001271208.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986
NM_001271208.2(NEB):c.12298C>G (p.Gln4100Glu)
NM_001271208.2(NEB):c.1229A>C (p.Asp410Ala)
NM_001271208.2(NEB):c.12303A>C (p.Ala4101=) rs1553882764
NM_001271208.2(NEB):c.12316G>A (p.Asp4106Asn) rs192843524
NM_001271208.2(NEB):c.12331-5T>C rs1171513278
NM_001271208.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001271208.2(NEB):c.12370G>A (p.Gly4124Ser) rs1227592399
NM_001271208.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001271208.2(NEB):c.12395A>G (p.Glu4132Gly) rs1553877904
NM_001271208.2(NEB):c.12406G>A (p.Val4136Met) rs1553877868
NM_001271208.2(NEB):c.12407T>G (p.Val4136Gly) rs1553877860
NM_001271208.2(NEB):c.12413T>G (p.Val4138Gly) rs1553877811
NM_001271208.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001271208.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001271208.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001271208.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305
NM_001271208.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001271208.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001271208.2(NEB):c.1258-2A>G rs1553608621
NM_001271208.2(NEB):c.12591T>C (p.Asp4197=) rs1553876898
NM_001271208.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299
NM_001271208.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001271208.2(NEB):c.12636C>T (p.Ser4212=) rs1553876762
NM_001271208.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001271208.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
NM_001271208.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001271208.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882
NM_001271208.2(NEB):c.12717C>T (p.His4239=) rs1553875334
NM_001271208.2(NEB):c.12747+5G>A rs1251007091
NM_001271208.2(NEB):c.12748-10A>G rs1553872572
NM_001271208.2(NEB):c.12769C>T (p.Arg4257Cys) rs1376744526
NM_001271208.2(NEB):c.12770G>A (p.Arg4257His) rs576918934
NM_001271208.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930
NM_001271208.2(NEB):c.127G>C (p.Glu43Gln)
NM_001271208.2(NEB):c.12800G>A (p.Arg4267His) rs1049044616
NM_001271208.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001271208.2(NEB):c.1285G>T (p.Asp429Tyr)
NM_001271208.2(NEB):c.12902A>T (p.His4301Leu) rs1553872062
NM_001271208.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429
NM_001271208.2(NEB):c.12911C>T (p.Pro4304Leu) rs1456001729
NM_001271208.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001271208.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001271208.2(NEB):c.12966C>T (p.Asp4322=) rs1334385911
NM_001271208.2(NEB):c.12976C>T (p.Arg4326Cys) rs1270122330
NM_001271208.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722
NM_001271208.2(NEB):c.13047C>T (p.Asp4349=) rs886038431
NM_001271208.2(NEB):c.13052A>G (p.Gln4351Arg) rs1553871396
NM_001271208.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001271208.2(NEB):c.13059+4C>T rs1253831275
NM_001271208.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512
NM_001271208.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360
NM_001271208.2(NEB):c.1310G>A (p.Ser437Asn)
NM_001271208.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869
NM_001271208.2(NEB):c.1316A>G (p.Glu439Gly) rs1553608272
NM_001271208.2(NEB):c.13175G>A (p.Arg4392His) rs772352938
NM_001271208.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023
NM_001271208.2(NEB):c.13218C>G (p.Thr4406=) rs1553867144
NM_001271208.2(NEB):c.13221G>A (p.Pro4407=) rs1240952464
NM_001271208.2(NEB):c.13248T>C (p.Ala4416=) rs1553866979
NM_001271208.2(NEB):c.13263+8C>T rs1553866957
NM_001271208.2(NEB):c.13308C>T (p.Asn4436=) rs1553865962
NM_001271208.2(NEB):c.1333del (p.His445fs)
NM_001271208.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001271208.2(NEB):c.13362C>T (p.Ile4454=) rs1553865873
NM_001271208.2(NEB):c.13368+10_13368+11inv rs1553865853
NM_001271208.2(NEB):c.13368+6A>G rs886038433
NM_001271208.2(NEB):c.13369-14CT[2] rs1553865749
NM_001271208.2(NEB):c.13369-9T>C rs1553865725
NM_001271208.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001271208.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001271208.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001271208.2(NEB):c.13460G>T (p.Arg4487Met) rs1553865625
NM_001271208.2(NEB):c.13465A>C (p.Ile4489Leu) rs1553865611
NM_001271208.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001271208.2(NEB):c.13475_13476delinsTT (p.Asp4492Val) rs1553865579
NM_001271208.2(NEB):c.13476+1G>A
NM_001271208.2(NEB):c.13476+7G>A rs1553865548
NM_001271208.2(NEB):c.13480C>T (p.Leu4494=) rs1462287804
NM_001271208.2(NEB):c.1350A>G (p.Thr450=) rs774227589
NM_001271208.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001271208.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.13614C>T (p.Asn4538=) rs1250752053
NM_001271208.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001271208.2(NEB):c.1365+2T>C rs770797137
NM_001271208.2(NEB):c.1365+5G>T rs1553607969
NM_001271208.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001271208.2(NEB):c.13653G>A (p.Val4551=) rs1553862349
NM_001271208.2(NEB):c.1366-2A>G rs1553607505
NM_001271208.2(NEB):c.1366-7_1366-5del rs1317027054
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.2(NEB):c.13662C>T (p.Ser4554=) rs1553862322
NM_001271208.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001271208.2(NEB):c.13704T>A (p.Tyr4568Ter) rs1553862274
NM_001271208.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001271208.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001271208.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001271208.2(NEB):c.13754T>C (p.Ile4585Thr) rs1553862132
NM_001271208.2(NEB):c.13756C>T (p.Gln4586Ter) rs1560283028
NM_001271208.2(NEB):c.13773C>A (p.Tyr4591Ter)
NM_001271208.2(NEB):c.13773C>T (p.Tyr4591=) rs1553862114
NM_001271208.2(NEB):c.13779A>G (p.Leu4593=) rs1057522591
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.144C>T (p.Ser48=) rs373652428
NM_001271208.2(NEB):c.1470+1G>A rs1220787593
NM_001271208.2(NEB):c.1470+2dup rs1477702016
NM_001271208.2(NEB):c.1470C>T (p.Asp490=) rs778189876
NM_001271208.2(NEB):c.1471-1G>A rs1553605995
NM_001271208.2(NEB):c.1478A>G (p.Tyr493Cys)
NM_001271208.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452
NM_001271208.2(NEB):c.1504T>C (p.Phe502Leu)
NM_001271208.2(NEB):c.1528G>T (p.Val510Phe)
NM_001271208.2(NEB):c.153_167del (p.52_56LAQPA[1]) rs757726895
NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[1] (p.52_56LAQPA[1]) rs377452683
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[3] (p.52_56LAQPA[3]) rs377452683
NM_001271208.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125
NM_001271208.2(NEB):c.1569+1G>A rs1553605553
NM_001271208.2(NEB):c.1569+3A>T
NM_001271208.2(NEB):c.1569C>T (p.Asp523=) rs200758495
NM_001271208.2(NEB):c.1570-2A>G rs1553603958
NM_001271208.2(NEB):c.1570-2_1574del rs1553603933
NM_001271208.2(NEB):c.1610G>A (p.Cys537Tyr)
NM_001271208.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001271208.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943
NM_001271208.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001271208.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047
NM_001271208.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle) rs746163908
NM_001271208.2(NEB):c.1672_1674+2del rs1057516739
NM_001271208.2(NEB):c.1674+1G>A
NM_001271208.2(NEB):c.1674+1G>T rs750585238
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.1675-9T>C rs75118047
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.1676del (p.Asn559fs)
NM_001271208.2(NEB):c.16788C>T (p.Asn5596=) rs186902443
NM_001271208.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701
NM_001271208.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328
NM_001271208.2(NEB):c.16823C>T (p.Thr5608Met)
NM_001271208.2(NEB):c.16875C>T (p.Val5625=) rs757882235
NM_001271208.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744
NM_001271208.2(NEB):c.16954A>T (p.Ile5652Leu)
NM_001271208.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000
NM_001271208.2(NEB):c.16967C>T (p.Thr5656Ile)
NM_001271208.2(NEB):c.17023C>G (p.Arg5675Gly)
NM_001271208.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162
NM_001271208.2(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.2(NEB):c.17114G>A (p.Ser5705Asn)
NM_001271208.2(NEB):c.17118C>T (p.Asp5706=) rs769476760
NM_001271208.2(NEB):c.17129A>G (p.Lys5710Arg)
NM_001271208.2(NEB):c.17156A>T (p.His5719Leu) rs776095941
NM_001271208.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317
NM_001271208.2(NEB):c.17196_17200del (p.Ile5732fs)
NM_001271208.2(NEB):c.17198G>A (p.Arg5733His)
NM_001271208.2(NEB):c.17198G>T (p.Arg5733Leu)
NM_001271208.2(NEB):c.17200T>C (p.Trp5734Arg)
NM_001271208.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641
NM_001271208.2(NEB):c.17215G>A (p.Asp5739Asn)
NM_001271208.2(NEB):c.17234G>A (p.Arg5745Gln)
NM_001271208.2(NEB):c.17242C>T (p.Arg5748Trp)
NM_001271208.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001271208.2(NEB):c.17304G>A (p.Leu5768=) rs35273905
NM_001271208.2(NEB):c.17325T>C (p.Ala5775=) rs375534633
NM_001271208.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001271208.2(NEB):c.17347C>T (p.Arg5783Cys)
NM_001271208.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)
NM_001271208.2(NEB):c.17396T>C (p.Ile5799Thr)
NM_001271208.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597
NM_001271208.2(NEB):c.17404_17406AAG[1] (p.Lys5803del) rs1553787578
NM_001271208.2(NEB):c.17415C>A (p.Tyr5805Ter)
NM_001271208.2(NEB):c.17416G>A (p.Glu5806Lys)
NM_001271208.2(NEB):c.17462G>A (p.Arg5821His) rs773239926
NM_001271208.2(NEB):c.17479C>T (p.Pro5827Ser) rs1560050173
NM_001271208.2(NEB):c.17491G>A (p.Val5831Met)
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649
NM_001271208.2(NEB):c.17518G>A (p.Ala5840Thr)
NM_001271208.2(NEB):c.17520G>A (p.Ala5840=) rs372786852
NM_001271208.2(NEB):c.17535+3A>G rs1553784210
NM_001271208.2(NEB):c.17543A>G (p.Tyr5848Cys)
NM_001271208.2(NEB):c.17573C>T (p.Thr5858Met) rs747699601
NM_001271208.2(NEB):c.17574G>A (p.Thr5858=) rs780714195
NM_001271208.2(NEB):c.17619C>T (p.Gly5873=)
NM_001271208.2(NEB):c.17627T>C (p.Leu5876Pro) rs1181510782
NM_001271208.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996
NM_001271208.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177
NM_001271208.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.1782+4_1782+5del rs398124168
NM_001271208.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001271208.2(NEB):c.17838G>A (p.Gln5946=) rs376199241
NM_001271208.2(NEB):c.17845-1G>A rs1371849916
NM_001271208.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.2(NEB):c.17900C>T (p.Thr5967Met)
NM_001271208.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918
NM_001271208.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207
NM_001271208.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726
NM_001271208.2(NEB):c.17953_18472-56del
NM_001271208.2(NEB):c.17965T>A (p.Tyr5989Asn) rs752113075
NM_001271208.2(NEB):c.17986del (p.Thr5996fs)
NM_001271208.2(NEB):c.1800C>T (p.Asp600=) rs532710372
NM_001271208.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001271208.2(NEB):c.18074G>A (p.Arg6025His) rs751957350
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
NM_001271208.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154
NM_001271208.2(NEB):c.18124C>T (p.Gln6042Ter)
NM_001271208.2(NEB):c.18127G>A (p.Ala6043Thr) rs1553775860
NM_001271208.2(NEB):c.18152G>A (p.Ser6051Asn)
NM_001271208.2(NEB):c.18153T>C (p.Ser6051=) rs1381905125
NM_001271208.2(NEB):c.18261+1G>T
NM_001271208.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538
NM_001271208.2(NEB):c.1828G>A (p.Gly610Arg)
NM_001271208.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293
NM_001271208.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001271208.2(NEB):c.18367-1_18370del rs1553770146
NM_001271208.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449
NM_001271208.2(NEB):c.18411G>A (p.Thr6137=) rs767659024
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg) rs34504204
NM_001271208.2(NEB):c.18439C>T (p.His6147Tyr)
NM_001271208.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223
NM_001271208.2(NEB):c.18471+1G>C rs1553769576
NM_001271208.2(NEB):c.18472-4C>G rs756954250
NM_001271208.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001271208.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del) rs1553767010
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18542T>C (p.Ile6181Thr)
NM_001271208.2(NEB):c.18555G>A (p.Lys6185=) rs145252235
NM_001271208.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.2(NEB):c.18579+6T>C rs116189169
NM_001271208.2(NEB):c.18596C>T (p.Thr6199Ile)
NM_001271208.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001271208.2(NEB):c.18622C>G (p.Leu6208Val)
NM_001271208.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102
NM_001271208.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889
NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18694-2del rs1553763404
NM_001271208.2(NEB):c.18694-3T>C
NM_001271208.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001271208.2(NEB):c.18694-7A>T rs373371474
NM_001271208.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225
NM_001271208.2(NEB):c.18742C>T (p.Pro6248Ser) rs189541265
NM_001271208.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566
NM_001271208.2(NEB):c.18783G>A (p.Gln6261=) rs148095660
NM_001271208.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001271208.2(NEB):c.18809G>A (p.Arg6270Gln)
NM_001271208.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001271208.2(NEB):c.18830C>T (p.Thr6277Met)
NM_001271208.2(NEB):c.18831G>A (p.Thr6277=) rs368876425
NM_001271208.2(NEB):c.1883A>C (p.Lys628Thr)
NM_001271208.2(NEB):c.18859C>T (p.Arg6287Cys)
NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) rs146294986
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851
NM_001271208.2(NEB):c.18866G>A (p.Arg6289Gln)
NM_001271208.2(NEB):c.18891+1G>A rs1443738549
NM_001271208.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001271208.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001271208.2(NEB):c.1896+7T>A rs1553600682
NM_001271208.2(NEB):c.1896T>A (p.Asp632Glu)
NM_001271208.2(NEB):c.1897-1G>A rs1553593177
NM_001271208.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001271208.2(NEB):c.18996+2T>C
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.18997-10T>G rs4544436
NM_001271208.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19082G>A (p.Ser6361Asn)
NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19102-31_19102-30del rs774225336
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001271208.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050
NM_001271208.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001271208.2(NEB):c.19207-1G>A rs1553755829
NM_001271208.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939
NM_001271208.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316
NM_001271208.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001271208.2(NEB):c.19301A>C (p.His6434Pro)
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19324C>T (p.Arg6442Trp)
NM_001271208.2(NEB):c.19325G>A (p.Arg6442Gln)
NM_001271208.2(NEB):c.19358C>T (p.Thr6453Met)
NM_001271208.2(NEB):c.19377C>T (p.Asp6459=) rs187211085
NM_001271208.2(NEB):c.19400G>C (p.Cys6467Ser)
NM_001271208.2(NEB):c.1942A>T (p.Asn648Tyr) rs1553592578
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326
NM_001271208.2(NEB):c.19486A>G (p.Met6496Val)
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_001271208.2(NEB):c.19518_19520GAA[1] (p.Lys6508del) rs1553736221
NM_001271208.2(NEB):c.1952A>T (p.Glu651Val) rs1553592436
NM_001271208.2(NEB):c.19544G>A (p.Arg6515His) rs757278862
NM_001271208.2(NEB):c.1957C>T (p.Pro653Ser)
NM_001271208.2(NEB):c.195G>A (p.Pro65=) rs79524813
NM_001271208.2(NEB):c.19613A>T (p.Asp6538Val)
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19665T>C (p.Ile6555=) rs150842230
NM_001271208.2(NEB):c.19675G>A (p.Val6559Ile)
NM_001271208.2(NEB):c.19711_19714del (p.Ala6571fs)
NM_001271208.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001271208.2(NEB):c.19724G>T (p.Arg6575Leu) rs185999504
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.1974T>C (p.Asp658=) rs199528953
NM_001271208.2(NEB):c.19801G>A (p.Val6601Met)
NM_001271208.2(NEB):c.19803G>A (p.Val6601=) rs374957115
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.19826A>T (p.Gln6609Leu) rs1553730155
NM_001271208.2(NEB):c.19836+10C>G rs148814261
NM_001271208.2(NEB):c.19836+1G>T rs1446930968
NM_001271208.2(NEB):c.19836C>T (p.Asp6612=) rs371194689
NM_001271208.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709
NM_001271208.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688
NM_001271208.2(NEB):c.19944+3G>A rs115142419
NM_001271208.2(NEB):c.19944+7A>G
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558
NM_001271208.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804
NM_001271208.2(NEB):c.1999G>A (p.Ala667Thr) rs750186349
NM_001271208.2(NEB):c.20019C>T (p.His6673=) rs374881368
NM_001271208.2(NEB):c.20021_20023del (p.Ile6674del)
NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095
NM_001271208.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20099T>C (p.Leu6700Pro)
NM_001271208.2(NEB):c.20106C>T (p.Pro6702=) rs1553717815
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215
NM_001271208.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629
NM_001271208.2(NEB):c.20157+2T>C rs1553717306
NM_001271208.2(NEB):c.20158-1G>C rs1553715579
NM_001271208.2(NEB):c.20158-5C>T rs376869270
NM_001271208.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20199C>T (p.Ile6733=) rs1322022679
NM_001271208.2(NEB):c.2020G>A (p.Val674Ile) rs775553284
NM_001271208.2(NEB):c.20212G>A (p.Asp6738Asn) rs201337732
NM_001271208.2(NEB):c.20228G>A (p.Arg6743His) rs755370356
NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423
NM_001271208.2(NEB):c.20263-15dup rs763008896
NM_001271208.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001271208.2(NEB):c.20355C>T (p.Asp6785=) rs140323673
NM_001271208.2(NEB):c.20371A>G (p.Lys6791Glu)
NM_001271208.2(NEB):c.20390_20412del (p.Gln6797fs) rs1553710982
NM_001271208.2(NEB):c.20401G>T (p.Gly6801Ter)
NM_001271208.2(NEB):c.20437G>A (p.Val6813Ile)
NM_001271208.2(NEB):c.20440C>T (p.Arg6814Cys)
NM_001271208.2(NEB):c.20441G>A (p.Arg6814His) rs773584363
NM_001271208.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001271208.2(NEB):c.20446C>G (p.Arg6816Gly) rs780644697
NM_001271208.2(NEB):c.20454G>C (p.Leu6818=) rs374662309
NM_001271208.2(NEB):c.20466+7G>A rs201684605
NM_001271208.2(NEB):c.20467-1G>T rs760082702
NM_001271208.2(NEB):c.20467-3dup rs765107380
NM_001271208.2(NEB):c.20467-4T>A rs199791504
NM_001271208.2(NEB):c.20467-4_20467-3insTA rs1553708977
NM_001271208.2(NEB):c.20467-5T>A rs762368980
NM_001271208.2(NEB):c.2049C>G (p.Gly683=) rs372609682
NM_001271208.2(NEB):c.20503C>T (p.Arg6835Ter)
NM_001271208.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001271208.2(NEB):c.20577+2T>C rs1185654671
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.2062C>G (p.Pro688Ala)
NM_001271208.2(NEB):c.2062C>T (p.Pro688Ser) rs750276279
NM_001271208.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668
NM_001271208.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641
NM_001271208.2(NEB):c.2065dup (p.Tyr689fs)
NM_001271208.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658
NM_001271208.2(NEB):c.20682+1G>A
NM_001271208.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001271208.2(NEB):c.20721_20723TCA[1] (p.His6909del) rs1553696713
NM_001271208.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377
NM_001271208.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn) rs1553696371
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.20776A>G (p.Met6926Val) rs1559707924
NM_001271208.2(NEB):c.20787+2T>C rs1337287633
NM_001271208.2(NEB):c.20788-1G>A rs1553695557
NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001271208.2(NEB):c.20846C>T (p.Thr6949Met)
NM_001271208.2(NEB):c.20853C>T (p.Ile6951=) rs199730497
NM_001271208.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001271208.2(NEB):c.20897G>A (p.Arg6966His)
NM_001271208.2(NEB):c.20933A>G (p.Tyr6978Cys)
NM_001271208.2(NEB):c.20941G>A (p.Val6981Met)
NM_001271208.2(NEB):c.20945A>T (p.Lys6982Ile)
NM_001271208.2(NEB):c.20946A>G (p.Lys6982=) rs371201870
NM_001271208.2(NEB):c.20956G>C (p.Asp6986His) rs150874422
NM_001271208.2(NEB):c.20961T>C (p.Ile6987=) rs1553689592
NM_001271208.2(NEB):c.20972G>A (p.Arg6991His)
NM_001271208.2(NEB):c.20977G>A (p.Val6993Ile)
NM_001271208.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001271208.2(NEB):c.21027G>A (p.Gln7009=) rs758282270
NM_001271208.2(NEB):c.2103T>C (p.Ser701=) rs535236430
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.21052del (p.Asp7018fs)
NM_001271208.2(NEB):c.2106+3A>C rs1553589058
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.2(NEB):c.21093_21094del (p.Val7032fs) rs1553688242
NM_001271208.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001271208.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155
NM_001271208.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113
NM_001271208.2(NEB):c.21207+8T>C rs1553686509
NM_001271208.2(NEB):c.2122G>A (p.Glu708Lys) rs1553587676
NM_001271208.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del) rs1553683478
NM_001271208.2(NEB):c.21266C>G (p.Ser7089Cys) rs774297352
NM_001271208.2(NEB):c.21268C>G (p.Pro7090Ala)
NM_001271208.2(NEB):c.21300A>G (p.Gln7100=) rs1050612430
NM_001271208.2(NEB):c.21312+1G>A rs1553682994
NM_001271208.2(NEB):c.21312+5G>A
NM_001271208.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001271208.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151
NM_001271208.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984
NM_001271208.2(NEB):c.21346G>A (p.Asp7116Asn)
NM_001271208.2(NEB):c.21348T>A (p.Asp7116Glu)
NM_001271208.2(NEB):c.21358del (p.Leu7120fs) rs1553678967
NM_001271208.2(NEB):c.21397G>T (p.Ala7133Ser)
NM_001271208.2(NEB):c.21442A>G (p.Met7148Val) rs750039342
NM_001271208.2(NEB):c.21476G>A (p.Arg7159His) rs201094791
NM_001271208.2(NEB):c.21487T>C (p.Leu7163=) rs114218081
NM_001271208.2(NEB):c.214A>G (p.Ile72Val) rs1553698165
NM_001271208.2(NEB):c.21511A>T (p.Met7171Leu) rs886038447
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001271208.2(NEB):c.21574G>T (p.Val7192Leu)
NM_001271208.2(NEB):c.21596G>A (p.Arg7199His) rs16830171
NM_001271208.2(NEB):c.21609del (p.Asn7204fs) rs934955715
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
NM_001271208.2(NEB):c.21648_21650CAA[1] (p.Asn7217del) rs758160111
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21669C>A (p.Gly7223=) rs775887037
NM_001271208.2(NEB):c.21684C>T (p.His7228=) rs372877088
NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)
NM_001271208.2(NEB):c.21735+1G>A rs1446706909
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
NM_001271208.2(NEB):c.21778A>T (p.Thr7260Ser) rs187977960
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21794C>T (p.Ala7265Val)
NM_001271208.2(NEB):c.217C>T (p.Arg73Trp) rs77994592
NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs) rs1559580467
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21841-13_21848del rs767772838
NM_001271208.2(NEB):c.21841-2A>G rs1389892619
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.2(NEB):c.21862G>A (p.Glu7288Lys)
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21943G>A (p.Asp7315Asn) rs200945025
NM_001271208.2(NEB):c.21946-6T>A rs767466501
NM_001271208.2(NEB):c.21961G>A (p.Asp7321Asn) rs35625617
NM_001271208.2(NEB):c.21964C>G (p.Arg7322Gly)
NM_001271208.2(NEB):c.21967G>C (p.Glu7323Gln) rs768693028
NM_001271208.2(NEB):c.21968A>G (p.Glu7323Gly)
NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr) rs1289511955
NM_001271208.2(NEB):c.22051-2del rs1553647715
NM_001271208.2(NEB):c.22068A>G (p.Lys7356=) rs61730765
NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln)
NM_001271208.2(NEB):c.22077G>A (p.Lys7359=) rs267598918
NM_001271208.2(NEB):c.22099G>A (p.Val7367Ile) rs189609282
NM_001271208.2(NEB):c.22109C>T (p.Thr7370Met) rs767584361
NM_001271208.2(NEB):c.2211+1G>A rs1553586486
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.22112C>T (p.Pro7371Leu) rs1559547106
NM_001271208.2(NEB):c.2212-2A>G rs1553580540
NM_001271208.2(NEB):c.22147G>A (p.Val7383Met) rs200918570
NM_001271208.2(NEB):c.2215A>G (p.Thr739Ala)
NM_001271208.2(NEB):c.22192C>T (p.Gln7398Ter) rs1553646540
NM_001271208.2(NEB):c.22204_22206ACA[1] (p.Thr7403del) rs1553646403
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22229C>T (p.Thr7410Ile)
NM_001271208.2(NEB):c.22243del (p.Glu7415fs) rs1235589246
NM_001271208.2(NEB):c.22249A>C (p.Thr7417Pro) rs761232641
NM_001271208.2(NEB):c.22267-5_22267-2del rs1553644243
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.2(NEB):c.22288G>A (p.Val7430Ile) rs1396168176
NM_001271208.2(NEB):c.22338G>C (p.Glu7446Asp)
NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) rs1559534672
NM_001271208.2(NEB):c.22369C>A (p.Gln7457Lys) rs369642754
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-10C>T rs781520817
NM_001271208.2(NEB):c.22378-1G>A rs1553642332
NM_001271208.2(NEB):c.22378-36CT[5] rs751597547
NM_001271208.2(NEB):c.22378-6_22378-2dup rs758609054
NM_001271208.2(NEB):c.22444_22446AAG[1] (p.Lys7483del) rs1553641943
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.22479+13_22479+33dup rs1553641788
NM_001271208.2(NEB):c.22479+6G>A rs749050869
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.2249C>T (p.Thr750Met) rs757505325
NM_001271208.2(NEB):c.22517A>G (p.His7506Arg) rs1553641474
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.22534G>A (p.Gly7512Ser) rs764674361
NM_001271208.2(NEB):c.22537C>T (p.Arg7513Cys) rs202050860
NM_001271208.2(NEB):c.22538G>A (p.Arg7513His)
NM_001271208.2(NEB):c.22546A>G (p.Ile7516Val)
NM_001271208.2(NEB):c.22584+1G>C rs1057515575
NM_001271208.2(NEB):c.22584+1del rs1488066635
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-1G>C rs757157808
NM_001271208.2(NEB):c.22743C>T (p.Asp7581=) rs372279388
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22747_22749del (p.Lys7583del) rs1553629857
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr)
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.2(NEB):c.22801-1G>A rs745511810
NM_001271208.2(NEB):c.22810_22812AAG[2] (p.Lys7606del) rs760161843
NM_001271208.2(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.2(NEB):c.22897C>T (p.Gln7633Ter)
NM_001271208.2(NEB):c.22905+1G>A rs1302373559
NM_001271208.2(NEB):c.22905+2T>G rs1553627466
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22955A>G (p.Asp7652Gly) rs776739582
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.2(NEB):c.23010+2T>C rs1553623367
NM_001271208.2(NEB):c.23010+2dup rs1553623381
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23011-6_23011-2del rs1014710501
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr)
NM_001271208.2(NEB):c.2310+2T>A rs1553579092
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23122-3T>C rs111314898
NM_001271208.2(NEB):c.23160G>A (p.Gly7720=) rs563896790
NM_001271208.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23233-18del rs1553616477
NM_001271208.2(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.2(NEB):c.23273G>A (p.Arg7758Lys) rs947053462
NM_001271208.2(NEB):c.23346+16C>T rs75221580
NM_001271208.2(NEB):c.23346+2T>A rs1553615846
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.23384A>G (p.Asn7795Ser) rs1232744915
NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del) rs1553614214
NM_001271208.2(NEB):c.23443T>A (p.Ser7815Thr) rs1553614160
NM_001271208.2(NEB):c.23456dup (p.Tyr7820fs) rs1559360386
NM_001271208.2(NEB):c.23482A>C (p.Met7828Leu) rs199957886
NM_001271208.2(NEB):c.23483T>C (p.Met7828Thr) rs536677256
NM_001271208.2(NEB):c.23483_23485del (p.Met7828_Ser7829delinsThr) rs1553603652
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23486C>T (p.Ser7829Leu) rs41270201
NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) rs1057515574
NM_001271208.2(NEB):c.23520dup (p.Gln7841fs) rs1553603438
NM_001271208.2(NEB):c.23522_23523AG[2] (p.Arg7842fs) rs1553603400
NM_001271208.2(NEB):c.23530C>T (p.Arg7844Trp) rs762220487
NM_001271208.2(NEB):c.23556+1G>C rs1011425121
NM_001271208.2(NEB):c.23556+1G>T rs1011425121
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) rs34368668
NM_001271208.2(NEB):c.23602_23604GTT[1] (p.Val7869del) rs1553601408
NM_001271208.2(NEB):c.23615C>T (p.Thr7872Met)
NM_001271208.2(NEB):c.23616G>A (p.Thr7872=) rs35808744
NM_001271208.2(NEB):c.23629C>T (p.Arg7877Cys) rs184516994
NM_001271208.2(NEB):c.23660C>T (p.Ser7887Leu) rs200454939
NM_001271208.2(NEB):c.23662-3C>G
NM_001271208.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216
NM_001271208.2(NEB):c.23700C>T (p.Ile7900=) rs370825760
NM_001271208.2(NEB):c.23701G>A (p.Gly7901Arg) rs1480807112
NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.2(NEB):c.23714A>T (p.Glu7905Val)
NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter)
NM_001271208.2(NEB):c.23743_23745del (p.His7915del) rs1553598770
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
NM_001271208.2(NEB):c.23754+10_23754+11del rs772001300
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.23848-1G>C rs797045098
NM_001271208.2(NEB):c.2385del (p.Gln795fs) rs1553568167
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.23875G>A (p.Gly7959Ser) rs369602540
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.2389_2390AG[1] (p.Arg797fs) rs1057516938
NM_001271208.2(NEB):c.23939C>A (p.Ser7980Ter) rs755970391
NM_001271208.2(NEB):c.23940+1G>A rs781120931
NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp) rs200559481
NM_001271208.2(NEB):c.23953_23955del (p.Glu7985del) rs1553576655
NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs) rs1559296376
NM_001271208.2(NEB):c.23977_23979dup (p.Thr7993dup) rs764993333
NM_001271208.2(NEB):c.23_25AGG[1] (p.Glu9del) rs1553711235
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24015_24018dup (p.Glu8007fs) rs761694639
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24033+4T>C
NM_001271208.2(NEB):c.24034-1_24035dup rs1427250696
NM_001271208.2(NEB):c.24034-2A>C rs1553569122
NM_001271208.2(NEB):c.24034-7CA[2] rs1217738625
NM_001271208.2(NEB):c.24042C>G (p.Tyr8014Ter) rs779173742
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24091G>A (p.Glu8031Lys) rs1202510810
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24104_24107TCAA[1] (p.Asn8036fs) rs1553568447
NM_001271208.2(NEB):c.24117_24119dup (p.Phe8040dup) rs1553568381
NM_001271208.2(NEB):c.24119_24120dup (p.Ser8041fs) rs1553568357
NM_001271208.2(NEB):c.24125C>T (p.Ser8042Leu) rs763365852
NM_001271208.2(NEB):c.24127-1G>A rs1553561697
NM_001271208.2(NEB):c.24127-1G>C rs1553561697
NM_001271208.2(NEB):c.24127-1_24134del rs1423137705
NM_001271208.2(NEB):c.24128_24131dup (p.Leu8044fs) rs1553561665
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24144del (p.Asn8048fs) rs1553561525
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.2(NEB):c.2415+2T>C rs1057517399
NM_001271208.2(NEB):c.2415+2dup rs1553567814
NM_001271208.2(NEB):c.2415+6T>C rs760614044
NM_001271208.2(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.2(NEB):c.2416-1G>C rs1553565278
NM_001271208.2(NEB):c.2416-6G>T rs185433570
NM_001271208.2(NEB):c.24161C>T (p.Pro8054Leu) rs189655274
NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) rs144634228
NM_001271208.2(NEB):c.24200A>G (p.Asn8067Ser) rs946188918
NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys)
NM_001271208.2(NEB):c.24201_24204dup (p.Glu8069fs) rs1553561211
NM_001271208.2(NEB):c.24213T>C (p.Phe8071=) rs748169663
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24232_24235dup (p.Asn8079fs) rs1553556275
NM_001271208.2(NEB):c.24248del (p.Gly8083fs) rs1553556154
NM_001271208.2(NEB):c.24276G>T (p.Met8092Ile)
NM_001271208.2(NEB):c.24277C>T (p.Gln8093Ter)
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs) rs1266535163
NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs) rs1553555882
NM_001271208.2(NEB):c.24311C>A (p.Ser8104Ter) rs1037388276
NM_001271208.2(NEB):c.24312+2T>C rs1553555768
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24313-7C>T rs113048349
NM_001271208.2(NEB):c.24313_24317dup (p.Tyr8107fs) rs1553552413
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24315_24317dup (p.Leu8106dup) rs781667543
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.24317T>A (p.Leu8106Ter) rs756726488
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24367_24369dup (p.Met8123dup) rs769252768
NM_001271208.2(NEB):c.24369G>A (p.Met8123Ile) rs144709880
NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) rs747564597
NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs) rs747564597
NM_001271208.2(NEB):c.2437G>A (p.Glu813Lys)
NM_001271208.2(NEB):c.24380_24383dup (p.His8128fs) rs1553551748
NM_001271208.2(NEB):c.24382_24383CA[4] (p.Asn8129fs) rs1553551650
NM_001271208.2(NEB):c.24398T>C (p.Ile8133Thr)
NM_001271208.2(NEB):c.24398_24400dup (p.Ile8133dup) rs780724946
NM_001271208.2(NEB):c.24404C>T (p.Ser8135Leu) rs759261311
NM_001271208.2(NEB):c.24405+1G>A rs1366853918
NM_001271208.2(NEB):c.24405G>C (p.Ser8135=) rs541126160
NM_001271208.2(NEB):c.24406_24410dup (p.Tyr8138fs) rs1553548771
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup) rs1344099907
NM_001271208.2(NEB):c.24410T>A (p.Leu8137Ter) rs1553548752
NM_001271208.2(NEB):c.24411A>C (p.Leu8137Phe) rs1217235799
NM_001271208.2(NEB):c.24414C>A (p.Tyr8138Ter) rs1332061304
NM_001271208.2(NEB):c.24434_24437dup (p.Pro8147fs)
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24455C>T (p.Pro8152Leu)
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs) rs1257495033
NM_001271208.2(NEB):c.24460_24462dup (p.Met8154dup) rs942843328
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24473_24476dup (p.His8159fs) rs1553548207
NM_001271208.2(NEB):c.24480_24482dup (p.Gln8161_Glu8162insHis) rs1372551649
NM_001271208.2(NEB):c.24482_24488del (p.Gln8161fs) rs1553548018
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp)
NM_001271208.2(NEB):c.24491_24493dup (p.Ile8164dup) rs767474018
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24499-1G>A rs1421095081
NM_001271208.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001271208.2(NEB):c.24500_24503dup (p.Leu8168fs) rs762133567
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24577_24579del (p.Glu8193del) rs1553544463
NM_001271208.2(NEB):c.24582_24585dup (p.Ser8196delinsTyrTer) rs797044606
NM_001271208.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592
NM_001271208.2(NEB):c.24613G>A (p.Gly8205Arg) rs1553537770
NM_001271208.2(NEB):c.24614G>A (p.Gly8205Glu) rs398124169
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.24650_24651AG[2] (p.Arg8218fs) rs755863625
NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs) rs1553537512
NM_001271208.2(NEB):c.24662G>A (p.Arg8221His)
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24684G>C (p.Ser8228=)
NM_001271208.2(NEB):c.24685-1G>C
NM_001271208.2(NEB):c.24685-2A>G rs113290650
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.24742G>T (p.Glu8248Ter) rs1553536267
NM_001271208.2(NEB):c.24744_24745del (p.Arg8249fs) rs1357811155
NM_001271208.2(NEB):c.24750G>A (p.Val8250=) rs769610035
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His)
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24776C>T (p.Ser8259Leu) rs746031384
NM_001271208.2(NEB):c.24778-1G>A
NM_001271208.2(NEB):c.24778-2A>C rs112687345
NM_001271208.2(NEB):c.24812C>T (p.Pro8271Leu)
NM_001271208.2(NEB):c.24815C>T (p.Thr8272Ile)
NM_001271208.2(NEB):c.24815_24836del (p.Thr8272fs)
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) rs776059611
NM_001271208.2(NEB):c.24847C>T (p.Arg8283Cys)
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24871-9_24872del rs1553530144
NM_001271208.2(NEB):c.24917C>T (p.Ala8306Val)
NM_001271208.2(NEB):c.24978G>A (p.Thr8326=)
NM_001271208.2(NEB):c.24988_24990del (p.His8330del) rs1553527955
NM_001271208.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001271208.2(NEB):c.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.2(NEB):c.25059_25061GAA[1] (p.Lys8354del) rs755822172
NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) rs1553526832
NM_001271208.2(NEB):c.25101del (p.Gln8368fs) rs1553526884
NM_001271208.2(NEB):c.25104G>A (p.Gln8368=) rs774663967
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala)
NM_001271208.2(NEB):c.25117delinsTA (p.Glu8373Ter) rs1553526619
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25162+1G>A rs1191429915
NM_001271208.2(NEB):c.25162+1G>C rs1191429915
NM_001271208.2(NEB):c.25163-2A>C rs866309952
NM_001271208.2(NEB):c.25169G>A (p.Arg8390His)
NM_001271208.2(NEB):c.25178G>A (p.Arg8393His)
NM_001271208.2(NEB):c.25194G>A (p.Ser8398=) rs766453942
NM_001271208.2(NEB):c.25235G>A (p.Arg8412Gln)
NM_001271208.2(NEB):c.25256-1G>T rs1553520609
NM_001271208.2(NEB):c.25267C>T (p.Arg8423Cys)
NM_001271208.2(NEB):c.25268G>A (p.Arg8423His) rs139333406
NM_001271208.2(NEB):c.25270C>T (p.Arg8424Trp) rs373551215
NM_001271208.2(NEB):c.25277G>A (p.Arg8426Gln)
NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter) rs121913662
NM_001271208.2(NEB):c.25287_25292del (p.Arg8430_Ser8431del) rs1553520388
NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.2(NEB):c.25289G>A (p.Arg8430Gln)
NM_001271208.2(NEB):c.25308_25309inv (p.Ile8437Val)
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.2533A>G (p.Lys845Glu)
NM_001271208.2(NEB):c.25361T>C (p.Leu8454Pro)
NM_001271208.2(NEB):c.25365G>A (p.Ser8455=) rs1390774664
NM_001271208.2(NEB):c.25402+1G>A rs113525641
NM_001271208.2(NEB):c.25402+2del rs1553519860
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25445C>A (p.Ser8482Ter) rs1553519124
NM_001271208.2(NEB):c.25450_25452del (p.Ser8484del) rs1553519071
NM_001271208.2(NEB):c.25464A>C (p.Gln8488His)
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25500T>G (p.Ser8500=) rs13031275
NM_001271208.2(NEB):c.25509+2T>A rs1553518813
NM_001271208.2(NEB):c.25510-1G>C rs1553508368
NM_001271208.2(NEB):c.25534_25535insG (p.Tyr8512Ter) rs1242654062
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.25603G>A (p.Asp8535Asn)
NM_001271208.2(NEB):c.25606G>T (p.Glu8536Ter) rs1304300842
NM_001271208.2(NEB):c.25613G>A (p.Trp8538Ter) rs1206080778
NM_001271208.2(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.2(NEB):c.25648G>T (p.Gly8550Ter) rs776932788
NM_001271208.2(NEB):c.25649del (p.Gly8550fs) rs1205824305
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr)
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
NM_001271208.2(NEB):c.2569G>A (p.Gly857Arg) rs1559253666
NM_001271208.2(NEB):c.2573C>T (p.Ala858Val) rs372217127
NM_001271208.2(NEB):c.2579G>A (p.Ser860Asn) rs1368018193
NM_001271208.2(NEB):c.2589C>T (p.Asp863=) rs370176216
NM_001271208.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053
NM_001271208.2(NEB):c.2604G>T (p.Leu868=) rs201698008
NM_001271208.2(NEB):c.2630A>G (p.Gln877Arg)
NM_001271208.2(NEB):c.2630A>T (p.Gln877Leu)
NM_001271208.2(NEB):c.2640C>T (p.Arg880=) rs114959904
NM_001271208.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001271208.2(NEB):c.2742C>T (p.Asp914=) rs766761991
NM_001271208.2(NEB):c.2751del (p.Asp916_Tyr917insTer) rs1553557405
NM_001271208.2(NEB):c.2755C>G (p.His919Asp) rs373168257
NM_001271208.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114
NM_001271208.2(NEB):c.2784del (p.Asp929fs) rs786204430
NM_001271208.2(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.2(NEB):c.2875_2877del (p.Cys959del) rs766232587
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.2943+1G>A rs113091511
NM_001271208.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001271208.2(NEB):c.2944-1G>A rs1553542669
NM_001271208.2(NEB):c.295-1G>T rs111300270
NM_001271208.2(NEB):c.295-8C>T rs767768026
NM_001271208.2(NEB):c.2987T>C (p.Ile996Thr)
NM_001271208.2(NEB):c.2998C>T (p.Pro1000Ser)
NM_001271208.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462
NM_001271208.2(NEB):c.3022A>G (p.Asn1008Asp)
NM_001271208.2(NEB):c.3024C>T (p.Asn1008=) rs1273538969
NM_001271208.2(NEB):c.3043-1G>A rs113326313
NM_001271208.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001271208.2(NEB):c.3147+1del rs1553539777
NM_001271208.2(NEB):c.3147+5G>A rs74859201
NM_001271208.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001271208.2(NEB):c.3155A>G (p.Tyr1052Cys)
NM_001271208.2(NEB):c.3184A>G (p.Lys1062Glu) rs192117840
NM_001271208.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_001271208.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880
NM_001271208.2(NEB):c.3218_3226dup (p.Ala1076_Lys1077insValArgAla) rs1553539039
NM_001271208.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup) rs1553539015
NM_001271208.2(NEB):c.322A>G (p.Thr108Ala) rs544069233
NM_001271208.2(NEB):c.3235G>T (p.Ala1079Ser)
NM_001271208.2(NEB):c.3245C>T (p.Ala1082Val)
NM_001271208.2(NEB):c.3248C>T (p.Ala1083Val) rs532130242
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.3255+1G>C rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3255+1del rs1553538835
NM_001271208.2(NEB):c.3255+2dup rs1276026682
NM_001271208.2(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.2(NEB):c.3352G>T (p.Ala1118Ser) rs1225381477
NM_001271208.2(NEB):c.3362A>G (p.Gln1121Arg) rs1559152642
NM_001271208.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001271208.2(NEB):c.3397A>G (p.Thr1133Ala)
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403
NM_001271208.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402
NM_001271208.2(NEB):c.3439G>A (p.Val1147Met) rs757659868
NM_001271208.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001271208.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566
NM_001271208.2(NEB):c.3468C>T (p.Val1156=) rs373258662
NM_001271208.2(NEB):c.3491C>A (p.Ser1164Tyr)
NM_001271208.2(NEB):c.3519C>T (p.Asp1173=) rs376512820
NM_001271208.2(NEB):c.3520G>A (p.Ala1174Thr)
NM_001271208.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001271208.2(NEB):c.355A>G (p.Thr119Ala)
NM_001271208.2(NEB):c.3567+1G>A rs587780399
NM_001271208.2(NEB):c.3567+1G>C rs587780399
NM_001271208.2(NEB):c.3567+3_3567+6del rs1553534336
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.3639C>T (p.Val1213=) rs74320183
NM_001271208.2(NEB):c.3676_3678AAG[1] (p.Lys1227del) rs1553532187
NM_001271208.2(NEB):c.367C>T (p.Arg123Cys) rs200555425
NM_001271208.2(NEB):c.368G>A (p.Arg123His)
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.37-1G>C rs1428597732
NM_001271208.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519
NM_001271208.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330
NM_001271208.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) rs1553531184
NM_001271208.2(NEB):c.3774+1G>A rs111293259
NM_001271208.2(NEB):c.3774+2T>C rs1553531049
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.3776T>C (p.Ile1259Thr) rs1553522143
NM_001271208.2(NEB):c.3788C>A (p.Ala1263Asp)
NM_001271208.2(NEB):c.3795_3797AGA[1] (p.Glu1266del) rs1553522046
NM_001271208.2(NEB):c.3801T>C (p.Asp1267=) rs182725059
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001271208.2(NEB):c.3879+1G>A rs746999970
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.3880-1G>T rs1057516381
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3918G>A (p.Lys1306=) rs368682145
NM_001271208.2(NEB):c.3964G>T (p.Ala1322Ser)
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_001271208.2(NEB):c.3987+1G>A rs780022652
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.3988-1G>A rs1553517128
NM_001271208.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632
NM_001271208.2(NEB):c.403-6_405del rs1553689774
NM_001271208.2(NEB):c.403G>A (p.Val135Ile) rs373729655
NM_001271208.2(NEB):c.4046T>C (p.Leu1349Pro)
NM_001271208.2(NEB):c.4060A>G (p.Lys1354Glu) rs371454282
NM_001271208.2(NEB):c.4103G>A (p.Arg1368His)
NM_001271208.2(NEB):c.4105G>A (p.Glu1369Lys)
NM_001271208.2(NEB):c.4109A>G (p.Tyr1370Cys) rs1230970164
NM_001271208.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001271208.2(NEB):c.413G>A (p.Arg138Gln)
NM_001271208.2(NEB):c.4166G>A (p.Ser1389Asn)
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.4204A>G (p.Asn1402Asp)
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4221G>A (p.Gln1407=) rs6709752
NM_001271208.2(NEB):c.422G>A (p.Gly141Asp) rs973669056
NM_001271208.2(NEB):c.422G>T (p.Gly141Val)
NM_001271208.2(NEB):c.4251C>T (p.Asp1417=) rs550832252
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.4271C>T (p.Thr1424Met)
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120
NM_001271208.2(NEB):c.4300-2A>C rs1553512813
NM_001271208.2(NEB):c.4326C>T (p.Ser1442=) rs1196827078
NM_001271208.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001271208.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749
NM_001271208.2(NEB):c.4471G>T (p.Val1491Leu) rs7426114
NM_001271208.2(NEB):c.4481A>G (p.Gln1494Arg)
NM_001271208.2(NEB):c.448G>A (p.Val150Ile)
NM_001271208.2(NEB):c.4506+1G>A rs112517981
NM_001271208.2(NEB):c.4507-3T>C
NM_001271208.2(NEB):c.4555G>A (p.Asp1519Asn)
NM_001271208.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001271208.2(NEB):c.4612G>C (p.Ala1538Pro)
NM_001271208.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
NM_001271208.2(NEB):c.4655A>G (p.Tyr1552Cys)
NM_001271208.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679
NM_001271208.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621
NM_001271208.2(NEB):c.4719+2T>C rs1553501889
NM_001271208.2(NEB):c.47_49AAG[1] (p.Glu17del) rs760256873
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001271208.2(NEB):c.4894G>A (p.Val1632Ile)
NM_001271208.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534
NM_001271208.2(NEB):c.491C>T (p.Ser164Leu)
NM_001271208.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001271208.2(NEB):c.496_499del (p.Gln166fs)
NM_001271208.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831
NM_001271208.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.5031+4T>C rs370999716
NM_001271208.2(NEB):c.507+1G>A rs1553689057
NM_001271208.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596
NM_001271208.2(NEB):c.5091G>C (p.Glu1697Asp) rs1349969572
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5120C>A (p.Ala1707Glu)
NM_001271208.2(NEB):c.5140_5142AAG[1] (p.Lys1715del) rs1553492424
NM_001271208.2(NEB):c.5160C>T (p.Pro1720=) rs377168964
NM_001271208.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001271208.2(NEB):c.5174T>C (p.Phe1725Ser)
NM_001271208.2(NEB):c.5211_5213del (p.Asn1737del) rs1553491789
NM_001271208.2(NEB):c.5247C>T (p.Tyr1749=) rs777520288
NM_001271208.2(NEB):c.5301G>A (p.Pro1767=) rs150496369
NM_001271208.2(NEB):c.5344-1G>A rs1197561990
NM_001271208.2(NEB):c.5344-1G>C rs1197561990
NM_001271208.2(NEB):c.5364G>A (p.Trp1788Ter)
NM_001271208.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207
NM_001271208.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579
NM_001271208.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988
NM_001271208.2(NEB):c.5434A>G (p.Arg1812Gly)
NM_001271208.2(NEB):c.5444C>G (p.Ala1815Gly)
NM_001271208.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001271208.2(NEB):c.5452-2A>G rs1057517317
NM_001271208.2(NEB):c.5495T>C (p.Ile1832Thr)
NM_001271208.2(NEB):c.54_56dup (p.Val19dup) rs1553702754
NM_001271208.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315
NM_001271208.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001271208.2(NEB):c.5566C>T (p.Arg1856Trp)
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019
NM_001271208.2(NEB):c.5581G>A (p.Gly1861Arg)
NM_001271208.2(NEB):c.5616G>A (p.Pro1872=) rs368371414
NM_001271208.2(NEB):c.5623A>G (p.Met1875Val) rs201940342
NM_001271208.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895
NM_001271208.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001271208.2(NEB):c.5718C>T (p.Ala1906=) rs115379999
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001271208.2(NEB):c.5763+4C>T rs78916288
NM_001271208.2(NEB):c.5763+5G>A rs776167256
NM_001271208.2(NEB):c.5768A>G (p.Gln1923Arg)
NM_001271208.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727
NM_001271208.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355
NM_001271208.2(NEB):c.5802C>T (p.Gly1934=) rs139963368
NM_001271208.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350
NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_001271208.2(NEB):c.5912C>T (p.Thr1971Ile) rs762592136
NM_001271208.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223
NM_001271208.2(NEB):c.5945A>C (p.Gln1982Pro) rs1212716508
NM_001271208.2(NEB):c.5967C>T (p.Asn1989=) rs371151246
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6043T>C (p.Leu2015=) rs748458556
NM_001271208.2(NEB):c.6046G>C (p.Ala2016Pro) rs1558927613
NM_001271208.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys) rs1553687045
NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.6075+1G>A rs1553472127
NM_001271208.2(NEB):c.6076-1G>T rs1553469502
NM_001271208.2(NEB):c.6076-2A>C rs1553469514
NM_001271208.2(NEB):c.6076-2A>G rs1553469514
NM_001271208.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001271208.2(NEB):c.6085A>C (p.Lys2029Gln)
NM_001271208.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444
NM_001271208.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067
NM_001271208.2(NEB):c.6108_6111AAAG[1] (p.Lys2038fs)
NM_001271208.2(NEB):c.6119A>G (p.Tyr2040Cys)
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6127A>G (p.Arg2043Gly) rs1321911647
NM_001271208.2(NEB):c.613-1G>C rs767693366
NM_001271208.2(NEB):c.613-2A>G rs752893483
NM_001271208.2(NEB):c.6145A>G (p.Ile2049Val)
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6166A>G (p.Arg2056Gly) rs115350357
NM_001271208.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974
NM_001271208.2(NEB):c.6183+1G>A rs557870969
NM_001271208.2(NEB):c.6183+1del rs1553468960
NM_001271208.2(NEB):c.6183+2T>A rs1553468939
NM_001271208.2(NEB):c.6195_6200del (p.2063_2064KY[1]) rs767681176
NM_001271208.2(NEB):c.61G>A (p.Glu21Lys) rs199907781
NM_001271208.2(NEB):c.6219G>A (p.Gly2073=) rs960591817
NM_001271208.2(NEB):c.6244G>A (p.Glu2082Lys)
NM_001271208.2(NEB):c.6291A>G (p.Gln2097=) rs753864118
NM_001271208.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001271208.2(NEB):c.6323A>G (p.Asn2108Ser) rs1558891493
NM_001271208.2(NEB):c.6325A>G (p.Thr2109Ala)
NM_001271208.2(NEB):c.6341_6342AC[3] (p.Ala2117fs)
NM_001271208.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286
NM_001271208.2(NEB):c.6392A>T (p.Asn2131Ile)
NM_001271208.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179
NM_001271208.2(NEB):c.642C>A (p.Asp214Glu) rs373133009
NM_001271208.2(NEB):c.6481C>T (p.Arg2161Cys)
NM_001271208.2(NEB):c.6482G>A (p.Arg2161His)
NM_001271208.2(NEB):c.6493G>C (p.Asp2165His)
NM_001271208.2(NEB):c.6507G>A (p.Lys2169=) rs267598923
NM_001271208.2(NEB):c.6591A>G (p.Glu2197=) rs1553462437
NM_001271208.2(NEB):c.6598A>G (p.Ser2200Gly) rs1553462412
NM_001271208.2(NEB):c.6615C>G (p.Arg2205=) rs200018782
NM_001271208.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001271208.2(NEB):c.6660G>A (p.Met2220Ile)
NM_001271208.2(NEB):c.6704A>C (p.His2235Pro) rs372800812
NM_001271208.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.6719A>G (p.Asp2240Gly) rs1362776689
NM_001271208.2(NEB):c.675G>A (p.Pro225=) rs138528093
NM_001271208.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del) rs1209177139
NM_001271208.2(NEB):c.6808-2A>T rs1553457607
NM_001271208.2(NEB):c.6811_6812CT[1] (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.6873T>G (p.Ile2291Met)
NM_001271208.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530
NM_001271208.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951
NM_001271208.2(NEB):c.6956_6967del (p.His2319_Phe2322del) rs1553449735
NM_001271208.2(NEB):c.6961G>A (p.Gly2321Arg)
NM_001271208.2(NEB):c.6968G>A (p.Arg2323Gln)
NM_001271208.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667
NM_001271208.2(NEB):c.7102C>G (p.Leu2368Val) rs1553449170
NM_001271208.2(NEB):c.7120_7122dup (p.Glu2374dup) rs1553449134
NM_001271208.2(NEB):c.7123T>C (p.Leu2375=) rs373895191
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001271208.2(NEB):c.717+1G>A
NM_001271208.2(NEB):c.71C>T (p.Pro24Leu) rs185496567
NM_001271208.2(NEB):c.7227+2T>C rs1553448527
NM_001271208.2(NEB):c.7228-1G>A rs1057516996
NM_001271208.2(NEB):c.724del (p.Tyr242fs)
NM_001271208.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384
NM_001271208.2(NEB):c.7253G>A (p.Trp2418Ter)
NM_001271208.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) rs1057516348
NM_001271208.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.7324A>G (p.Ile2442Val) rs1553447698
NM_001271208.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237
NM_001271208.2(NEB):c.7343G>A (p.Arg2448His) rs373589529
NM_001271208.2(NEB):c.7431+1919_7536+374del
NM_001271208.2(NEB):c.7432-2A>G rs1553990438
NM_001271208.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473
NM_001271208.2(NEB):c.7469A>C (p.Gln2490Pro) rs1446110323
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7545C>T (p.Tyr2515=) rs776265168
NM_001271208.2(NEB):c.7549A>G (p.Met2517Val) rs577856870
NM_001271208.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
NM_001271208.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929
NM_001271208.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057
NM_001271208.2(NEB):c.761C>T (p.Thr254Met) rs376835458
NM_001271208.2(NEB):c.7628G>A (p.Arg2543Gln)
NM_001271208.2(NEB):c.7644A>G (p.Glu2548=)
NM_001271208.2(NEB):c.7646A>G (p.Tyr2549Cys) rs1553984101
NM_001271208.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001271208.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001271208.2(NEB):c.7691G>T (p.Gly2564Val)
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001271208.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer) rs1553983416
NM_001271208.2(NEB):c.772G>A (p.Asp258Asn) rs267598926
NM_001271208.2(NEB):c.7737T>C (p.His2579=) rs528614990
NM_001271208.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958
NM_001271208.2(NEB):c.78+1G>A rs778593702
NM_001271208.2(NEB):c.7854A>G (p.Leu2618=) rs370074798
NM_001271208.2(NEB):c.7864G>A (p.Val2622Met) rs905660353
NM_001271208.2(NEB):c.7865T>G (p.Val2622Gly)
NM_001271208.2(NEB):c.7875G>A (p.Lys2625=) rs577894144
NM_001271208.2(NEB):c.7896A>G (p.Thr2632=) rs377015178
NM_001271208.2(NEB):c.78G>A (p.Glu26=) rs1553702617
NM_001271208.2(NEB):c.7906G>A (p.Asp2636Asn) rs760643814
NM_001271208.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn)
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.8020G>A (p.Glu2674Lys)
NM_001271208.2(NEB):c.8024A>G (p.Asp2675Gly)
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001271208.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137
NM_001271208.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707
NM_001271208.2(NEB):c.807C>A (p.Thr269=) rs1430006856
NM_001271208.2(NEB):c.8125G>A (p.Val2709Ile)
NM_001271208.2(NEB):c.8146A>G (p.Ile2716Val)
NM_001271208.2(NEB):c.8161C>T (p.Arg2721Cys)
NM_001271208.2(NEB):c.8162G>A (p.Arg2721His) rs753996512
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.2(NEB):c.8203C>G (p.His2735Asp)
NM_001271208.2(NEB):c.823-2A>G rs1553642811
NM_001271208.2(NEB):c.8315T>G (p.Met2772Arg)
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001271208.2(NEB):c.834_836AGA[1] (p.Glu279del) rs1553642771
NM_001271208.2(NEB):c.8356A>G (p.Arg2786Gly)
NM_001271208.2(NEB):c.8374-1G>A rs1180407562
NM_001271208.2(NEB):c.8381A>T (p.Tyr2794Phe)
NM_001271208.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001271208.2(NEB):c.8393A>G (p.Tyr2798Cys)
NM_001271208.2(NEB):c.8406C>T (p.Leu2802=) rs377170982
NM_001271208.2(NEB):c.8425del (p.Arg2809fs)
NM_001271208.2(NEB):c.8458_8459del (p.Ser2820fs)
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8467G>A (p.Val2823Met)
NM_001271208.2(NEB):c.8469G>A (p.Val2823=)
NM_001271208.2(NEB):c.8497_8499AAG[1] (p.Lys2834del) rs764523437
NM_001271208.2(NEB):c.8553G>A (p.Gly2851=) rs200624735
NM_001271208.2(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.2(NEB):c.8601C>T (p.Tyr2867=) rs1286220682
NM_001271208.2(NEB):c.863A>G (p.Lys288Arg) rs202035863
NM_001271208.2(NEB):c.8643C>T (p.Ser2881=) rs150135749
NM_001271208.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207
NM_001271208.2(NEB):c.8646C>T (p.Asp2882=) rs61730773
NM_001271208.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016
NM_001271208.2(NEB):c.8690T>C (p.Met2897Thr)
NM_001271208.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064
NM_001271208.2(NEB):c.877C>T (p.Pro293Ser) rs200672688
NM_001271208.2(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001271208.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001271208.2(NEB):c.8864A>G (p.Lys2955Arg)
NM_001271208.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972
NM_001271208.2(NEB):c.8880_8882del (p.Met2961del) rs1553964000
NM_001271208.2(NEB):c.8887A>T (p.Lys2963Ter) rs1553963973
NM_001271208.2(NEB):c.8889+1G>A rs1553963960
NM_001271208.2(NEB):c.8897A>G (p.Tyr2966Cys) rs1560822452
NM_001271208.2(NEB):c.8968A>G (p.Arg2990Gly)
NM_001271208.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855
NM_001271208.2(NEB):c.8994+2T>C rs1553962493
NM_001271208.2(NEB):c.9002A>G (p.Tyr3001Cys)
NM_001271208.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977
NM_001271208.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647
NM_001271208.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032
NM_001271208.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001271208.2(NEB):c.9055G>A (p.Ala3019Thr)
NM_001271208.2(NEB):c.9067G>A (p.Val3023Met)
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001271208.2(NEB):c.9072G>A (p.Ala3024=) rs369897667
NM_001271208.2(NEB):c.9102+1G>A rs143644938
NM_001271208.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001271208.2(NEB):c.9112A>G (p.Lys3038Glu)
NM_001271208.2(NEB):c.9126C>T (p.Cys3042=) rs373453206
NM_001271208.2(NEB):c.9133C>T (p.Leu3045Phe) rs533898172
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_001271208.2(NEB):c.9178A>G (p.Met3060Val) rs538524863
NM_001271208.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.2(NEB):c.9217_9218del (p.Arg3073fs)
NM_001271208.2(NEB):c.9246G>A (p.Trp3082Ter) rs1553947423
NM_001271208.2(NEB):c.927+10G>A rs1328277826
NM_001271208.2(NEB):c.927+1G>A rs374562457
NM_001271208.2(NEB):c.927+7T>C rs746940000
NM_001271208.2(NEB):c.9315C>A (p.Val3105=) rs371174518
NM_001271208.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283
NM_001271208.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001271208.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.9354A>G (p.Thr3118=) rs187637065
NM_001271208.2(NEB):c.9363T>G (p.Pro3121=) rs6709886
NM_001271208.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001271208.2(NEB):c.9414+1G>A rs1255445731
NM_001271208.2(NEB):c.9414+1G>T rs1255445731
NM_001271208.2(NEB):c.9425A>G (p.Lys3142Arg)
NM_001271208.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001271208.2(NEB):c.9440G>A (p.Trp3147Ter) rs1553939774
NM_001271208.2(NEB):c.9457dup (p.Trp3153fs) rs1553939660
NM_001271208.2(NEB):c.9459G>A (p.Trp3153Ter) rs1553939648
NM_001271208.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.9473C>G (p.Ser3158Cys)
NM_001271208.2(NEB):c.9481G>A (p.Val3161Met) rs1560693635
NM_001271208.2(NEB):c.9485del (p.Val3162fs) rs1553939284
NM_001271208.2(NEB):c.9542A>C (p.Asp3181Ala)
NM_001271208.2(NEB):c.9576del (p.Glu3193fs) rs1553938571
NM_001271208.2(NEB):c.9587T>G (p.Leu3196Arg) rs754001835
NM_001271208.2(NEB):c.9590C>T (p.Ala3197Val) rs778131603
NM_001271208.2(NEB):c.9619-1G>A rs1390379576
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001271208.2(NEB):c.9620G>A (p.Arg3207His) rs111841612
NM_001271208.2(NEB):c.9620G>T (p.Arg3207Leu)
NM_001271208.2(NEB):c.9689T>C (p.Met3230Thr) rs760551196
NM_001271208.2(NEB):c.9694G>T (p.Ala3232Ser) rs1329330602
NM_001271208.2(NEB):c.9724-1G>A rs1553934586
NM_001271208.2(NEB):c.9724-2A>G rs1553934597
NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
NM_001271208.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702
NM_001271208.2(NEB):c.9767A>G (p.Tyr3256Cys) rs1365723573
NM_001271208.2(NEB):c.9796G>A (p.Val3266Met)
NM_001271208.2(NEB):c.9819_9820insAGG (p.Val3274_Ile3275insArg) rs1553934027
NM_001271208.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365
NM_001271208.2(NEB):c.9831+1G>A rs1553933986
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138
NM_001271208.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119
NM_001271208.2(NEB):c.9878G>C (p.Gly3293Ala)
NM_001271208.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001271208.2(NEB):c.992C>G (p.Pro331Arg)
NM_001271208.2(NEB):c.9943del (p.Asp3315fs) rs1553930053
NM_001271208.2(NEB):c.994G>A (p.Glu332Lys) rs748518353
NM_003289.3(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.3(TPM2):c.142_144AAG[1] (p.Lys49del) rs199476147
NM_003289.3(TPM2):c.14_16AGA[2] (p.Lys7del) rs199476146
NM_003289.3(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003289.3(TPM2):c.269G>A (p.Arg90His) rs1563929454
NM_003289.3(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.3(TPM2):c.412_414GAG[1] (p.Glu139del) rs199476153
NM_003289.3(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.3(TPM2):c.606C>G (p.Asn202Lys) rs137853307
NM_004543.5(NEB):c.18826-1350_18826-1348dup rs1553552449
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His)
NM_006063.3(KLHL41):c.1186G>T (p.Val396Leu) rs147650614
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr)
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) rs730882260
NM_006063.3(KLHL41):c.1251A>G (p.Val417=) rs79580851
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) rs750512280
NM_006063.3(KLHL41):c.1296del (p.Lys432fs)
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly)
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe)
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) rs778003504
NM_006063.3(KLHL41):c.1569T>C (p.Asp523=) rs373954289
NM_006063.3(KLHL41):c.15G>A (p.Arg5=) rs144048872
NM_006063.3(KLHL41):c.1620G>A (p.Leu540=) rs1157611870
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) rs1247404453
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) rs1237694295
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=) rs76875207
NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) rs730882258
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) rs547547946
NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr) rs116809051
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) rs775513051
NM_006063.3(KLHL41):c.291T>C (p.Asp97=) rs537913427
NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp) rs147294651
NM_006063.3(KLHL41):c.427_429CTT[2] (p.Leu145del) rs760524187
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala)
NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu)
NM_006063.3(KLHL41):c.459delinsACTC (p.Ala154_Arg155insLeu) rs730882257
NM_006063.3(KLHL41):c.519A>G (p.Gln173=) rs144844327
NM_006063.3(KLHL41):c.575_577AAG[2] (p.Glu194del) rs730882259
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln) rs576773055
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006063.3(KLHL41):c.652G>A (p.Val218Met) rs147527225
NM_006063.3(KLHL41):c.684A>C (p.Thr228=) rs141395388
NM_006063.3(KLHL41):c.832G>A (p.Val278Met) rs150233736
NM_006063.3(KLHL41):c.840T>A (p.Gly280=) rs755378546
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849
NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe) rs28730867
NM_006063.3(KLHL41):c.913C>T (p.Leu305Phe) rs149971244
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) rs781536513
NM_152263.4(TPM3):c.144G>A (p.Gln48=) rs765923858
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.483G>A (p.Arg161=) rs150586027
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.567-4A>C
NM_152263.4(TPM3):c.654_656AGA[1] (p.Glu219del) rs876661407
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)
NM_152263.4(TPM3):c.670_672GAA[1] (p.Glu225del) rs876661406
NM_152263.4(TPM3):c.706-9T>A rs931328025
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515
NM_152263.4(TPM3):c.760A>G (p.Ile254Val) rs1553248513
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr)
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly) rs1455676920
NM_152263.4(TPM3):c.855-1G>A rs113605263
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943
Single allele

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