ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 715
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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
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.1109C>A (p.Ser370Tyr) rs1553255290
NM_001100.3(ACTA1):c.121C>G (p.Arg41Gly)
NM_001100.3(ACTA1):c.148G>T (p.Gly50Cys) rs1558082103
NM_001100.3(ACTA1):c.168G>A (p.Val56=)
NM_001100.3(ACTA1):c.283G>A (p.Glu95Lys)
NM_001100.3(ACTA1):c.37G>A (p.Asp13Asn)
NM_001100.3(ACTA1):c.389A>G (p.Asn130Ser) rs766934634
NM_001100.3(ACTA1):c.425T>C (p.Leu142Pro) rs1553255482
NM_001100.3(ACTA1):c.453C>T (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.461_478del (p.Val154_Asp159del) rs1553255444
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.617C>T (p.Ala206Val)
NM_001100.3(ACTA1):c.659A>T (p.Tyr220Phe)
NM_001100.3(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100.3(ACTA1):c.685A>T (p.Met229Leu)
NM_001100.3(ACTA1):c.713T>C (p.Leu238Pro)
NM_001100.3(ACTA1):c.796C>T (p.Pro266Ser) rs1553255405
NM_001100.3(ACTA1):c.808+6C>A rs200342114
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.821C>A (p.Ala274Glu)
NM_001100.3(ACTA1):c.897C>A (p.Asn299Lys)
NM_001100.3(ACTA1):c.898G>T (p.Val300Phe) rs1553255349
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_001101362.2(KBTBD13):c.1042del (p.Ala348fs) rs760102500
NM_001101362.2(KBTBD13):c.1112G>C (p.Cys371Ser)
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.146G>T (p.Arg49Leu) rs1027726798
NM_001101362.2(KBTBD13):c.164C>T (p.Ala55Val)
NM_001101362.2(KBTBD13):c.167G>A (p.Gly56Glu) rs1242559901
NM_001101362.2(KBTBD13):c.170del (p.Gly57fs) rs1555407559
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.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.251G>C (p.Cys84Ser) rs999785767
NM_001101362.2(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454
NM_001101362.2(KBTBD13):c.272C>A (p.Pro91Gln)
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.331G>A (p.Asp111Asn) rs567309902
NM_001101362.2(KBTBD13):c.348C>A (p.Phe116Leu) rs1222501717
NM_001101362.2(KBTBD13):c.359del (p.Asp120fs) rs903604256
NM_001101362.2(KBTBD13):c.374C>G (p.Ala125Gly) rs575149903
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.43G>A (p.Gly15Ser)
NM_001101362.2(KBTBD13):c.470A>T (p.Tyr157Phe)
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.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.769G>A (p.Asp257Asn) 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.823G>C (p.Val275Leu) rs1566960251
NM_001101362.2(KBTBD13):c.881C>T (p.Pro294Leu)
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.977G>C (p.Arg326Pro) rs779729198
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.21213_21218del (p.Tyr7072_Lys7073del) rs1553683577
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.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.10348C>T (p.Arg3450Cys)
NM_001271208.2(NEB):c.1035+6A>G
NM_001271208.2(NEB):c.10433A>G (p.Asn3478Ser)
NM_001271208.2(NEB):c.10452+5G>A
NM_001271208.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
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.10802A>G (p.His3601Arg) rs371568550
NM_001271208.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal)
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.10913G>T (p.Gly3638Val)
NM_001271208.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001271208.2(NEB):c.11072A>G (p.Asn3691Ser)
NM_001271208.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958
NM_001271208.2(NEB):c.11181+3A>G rs1448725511
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.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.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+5G>A rs111404077
NM_001271208.2(NEB):c.1152C>T (p.Asp384=)
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.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.11755G>A (p.Asp3919Asn) rs201483656
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.1187C>T (p.Ala396Val)
NM_001271208.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
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.1209G>T (p.Glu403Asp)
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609
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.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.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.12596C>T (p.Pro4199Leu) rs1365594299
NM_001271208.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001271208.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
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.12747+5G>A rs1251007091
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.12922A>G (p.Met4308Val) rs1553871982
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.13018G>A (p.Asp4340Asn) rs1462818722
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.13175G>A (p.Arg4392His) rs772352938
NM_001271208.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023
NM_001271208.2(NEB):c.13263+8C>T rs1553866957
NM_001271208.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001271208.2(NEB):c.13368+6A>G rs886038433
NM_001271208.2(NEB):c.13369-14CT[2] rs1553865749
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.13520T>C (p.Ile4507Thr) rs1553862732
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.1365+5G>T rs1553607969
NM_001271208.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
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.1470C>T (p.Asp490=) rs778189876
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.154_168CTGGCACAGCCAGCA[3] (p.52_56LAQPA[3]) rs377452683
NM_001271208.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125
NM_001271208.2(NEB):c.1569+3A>T
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.1648A>G (p.Lys550Glu) rs756920047
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.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.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.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.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.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.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.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.1782+4_1782+5del rs398124168
NM_001271208.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
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.17965T>A (p.Tyr5989Asn) rs752113075
NM_001271208.2(NEB):c.18074G>A (p.Arg6025His) rs751957350
NM_001271208.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154
NM_001271208.2(NEB):c.18127G>A (p.Ala6043Thr) rs1553775860
NM_001271208.2(NEB):c.18152G>A (p.Ser6051Asn)
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.18398A>G (p.Lys6133Arg) rs199594449
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg) rs34504204
NM_001271208.2(NEB):c.18439C>T (p.His6147Tyr)
NM_001271208.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001271208.2(NEB):c.18542T>C (p.Ile6181Thr)
NM_001271208.2(NEB):c.18596C>T (p.Thr6199Ile)
NM_001271208.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18694-3T>C
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.18809G>A (p.Arg6270Gln)
NM_001271208.2(NEB):c.18830C>T (p.Thr6277Met)
NM_001271208.2(NEB):c.1883A>C (p.Lys628Thr)
NM_001271208.2(NEB):c.18859C>T (p.Arg6287Cys)
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728
NM_001271208.2(NEB):c.18866G>A (p.Arg6289Gln)
NM_001271208.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001271208.2(NEB):c.1896T>A (p.Asp632Glu)
NM_001271208.2(NEB):c.19082G>A (p.Ser6361Asn)
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.19214A>G (p.Tyr6405Cys) rs368240939
NM_001271208.2(NEB):c.19301A>C (p.His6434Pro)
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.19400G>C (p.Cys6467Ser)
NM_001271208.2(NEB):c.1942A>T (p.Asn648Tyr) rs1553592578
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.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.19613A>T (p.Asp6538Val)
NM_001271208.2(NEB):c.19675G>A (p.Val6559Ile)
NM_001271208.2(NEB):c.19724G>T (p.Arg6575Leu) rs185999504
NM_001271208.2(NEB):c.19801G>A (p.Val6601Met)
NM_001271208.2(NEB):c.19826A>T (p.Gln6609Leu) rs1553730155
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+7A>G
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.20021_20023del (p.Ile6674del)
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20099T>C (p.Leu6700Pro)
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.20162T>C (p.Leu6721Pro) rs111517514
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.20315C>T (p.Pro6772Leu) rs1559782362
NM_001271208.2(NEB):c.20371A>G (p.Lys6791Glu)
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.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.20728G>A (p.Ala6910Thr) rs750152377
NM_001271208.2(NEB):c.20776A>G (p.Met6926Val) rs1559707924
NM_001271208.2(NEB):c.20846C>T (p.Thr6949Met)
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.20956G>C (p.Asp6986His) rs150874422
NM_001271208.2(NEB):c.20972G>A (p.Arg6991His)
NM_001271208.2(NEB):c.20977G>A (p.Val6993Ile)
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.2122G>A (p.Glu708Lys) rs1553587676
NM_001271208.2(NEB):c.21268C>G (p.Pro7090Ala)
NM_001271208.2(NEB):c.21312+5G>A
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.21397G>T (p.Ala7133Ser)
NM_001271208.2(NEB):c.21442A>G (p.Met7148Val) rs750039342
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.2155C>T (p.Pro719Ser) rs376503299
NM_001271208.2(NEB):c.21574G>T (p.Val7192Leu)
NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
NM_001271208.2(NEB):c.21794C>T (p.Ala7265Val)
NM_001271208.2(NEB):c.21862G>A (p.Glu7288Lys)
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21946-6T>A rs767466501
NM_001271208.2(NEB):c.21964C>G (p.Arg7322Gly)
NM_001271208.2(NEB):c.21968A>G (p.Glu7323Gly)
NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr) rs1289511955
NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln)
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.22112C>T (p.Pro7371Leu) rs1559547106
NM_001271208.2(NEB):c.22147G>A (p.Val7383Met) rs200918570
NM_001271208.2(NEB):c.2215A>G (p.Thr739Ala)
NM_001271208.2(NEB):c.22229C>T (p.Thr7410Ile)
NM_001271208.2(NEB):c.22288G>A (p.Val7430Ile) rs1396168176
NM_001271208.2(NEB):c.22338G>C (p.Glu7446Asp)
NM_001271208.2(NEB):c.22369C>A (p.Gln7457Lys) rs369642754
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.22479+6G>A rs749050869
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.22538G>A (p.Arg7513His)
NM_001271208.2(NEB):c.22546A>G (p.Ile7516Val)
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr)
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.2(NEB):c.22955A>G (p.Asp7652Gly) rs776739582
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr)
NM_001271208.2(NEB):c.23122-3T>C rs111314898
NM_001271208.2(NEB):c.23273G>A (p.Arg7758Lys) rs947053462
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.23443T>A (p.Ser7815Thr) rs1553614160
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.23530C>T (p.Arg7844Trp) rs762220487
NM_001271208.2(NEB):c.23615C>T (p.Thr7872Met)
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.23701G>A (p.Gly7901Arg) rs1480807112
NM_001271208.2(NEB):c.23714A>T (p.Glu7905Val)
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
NM_001271208.2(NEB):c.23875G>A (p.Gly7959Ser) rs369602540
NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp) rs200559481
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24033+4T>C
NM_001271208.2(NEB):c.24091G>A (p.Glu8031Lys) rs1202510810
NM_001271208.2(NEB):c.24125C>T (p.Ser8042Leu) rs763365852
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.2(NEB):c.2415+6T>C rs760614044
NM_001271208.2(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.2(NEB):c.24200A>G (p.Asn8067Ser) rs946188918
NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys)
NM_001271208.2(NEB):c.24276G>T (p.Met8092Ile)
NM_001271208.2(NEB):c.2437G>A (p.Glu813Lys)
NM_001271208.2(NEB):c.24398T>C (p.Ile8133Thr)
NM_001271208.2(NEB):c.24404C>T (p.Ser8135Leu) rs759261311
NM_001271208.2(NEB):c.24405G>C (p.Ser8135=) rs541126160
NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup) rs1344099907
NM_001271208.2(NEB):c.24411A>C (p.Leu8137Phe) rs1217235799
NM_001271208.2(NEB):c.24455C>T (p.Pro8152Leu)
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp)
NM_001271208.2(NEB):c.24613G>A (p.Gly8205Arg) rs1553537770
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24662G>A (p.Arg8221His)
NM_001271208.2(NEB):c.24684G>C (p.Ser8228=)
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His)
NM_001271208.2(NEB):c.24776C>T (p.Ser8259Leu) rs746031384
NM_001271208.2(NEB):c.24812C>T (p.Pro8271Leu)
NM_001271208.2(NEB):c.24815C>T (p.Thr8272Ile)
NM_001271208.2(NEB):c.24847C>T (p.Arg8283Cys)
NM_001271208.2(NEB):c.24917C>T (p.Ala8306Val)
NM_001271208.2(NEB):c.24978G>A (p.Thr8326=)
NM_001271208.2(NEB):c.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala)
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.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.25289G>A (p.Arg8430Gln)
NM_001271208.2(NEB):c.25308_25309inv (p.Ile8437Val)
NM_001271208.2(NEB):c.2533A>G (p.Lys845Glu)
NM_001271208.2(NEB):c.25361T>C (p.Leu8454Pro)
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.25464A>C (p.Gln8488His)
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.25603G>A (p.Asp8535Asn)
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr)
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.2630A>G (p.Gln877Arg)
NM_001271208.2(NEB):c.2630A>T (p.Gln877Leu)
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.2923G>A (p.Ala975Thr) rs917645712
NM_001271208.2(NEB):c.2943G>A (p.Glu981=) rs398124170
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.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001271208.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001271208.2(NEB):c.3155A>G (p.Tyr1052Cys)
NM_001271208.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880
NM_001271208.2(NEB):c.3235G>T (p.Ala1079Ser)
NM_001271208.2(NEB):c.3245C>T (p.Ala1082Val)
NM_001271208.2(NEB):c.3255+2dup rs1276026682
NM_001271208.2(NEB):c.3362A>G (p.Gln1121Arg) rs1559152642
NM_001271208.2(NEB):c.3397A>G (p.Thr1133Ala)
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.3491C>A (p.Ser1164Tyr)
NM_001271208.2(NEB):c.3520G>A (p.Ala1174Thr)
NM_001271208.2(NEB):c.355A>G (p.Thr119Ala)
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.367C>T (p.Arg123Cys) rs200555425
NM_001271208.2(NEB):c.368G>A (p.Arg123His)
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.3776T>C (p.Ile1259Thr) rs1553522143
NM_001271208.2(NEB):c.3788C>A (p.Ala1263Asp)
NM_001271208.2(NEB):c.3964G>T (p.Ala1322Ser)
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_001271208.2(NEB):c.403G>A (p.Val135Ile) rs373729655
NM_001271208.2(NEB):c.4046T>C (p.Leu1349Pro)
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.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.422G>A (p.Gly141Asp) rs973669056
NM_001271208.2(NEB):c.422G>T (p.Gly141Val)
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.4271C>T (p.Thr1424Met)
NM_001271208.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120
NM_001271208.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001271208.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749
NM_001271208.2(NEB):c.4481A>G (p.Gln1494Arg)
NM_001271208.2(NEB):c.448G>A (p.Val150Ile)
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.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.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.4978C>A (p.Pro1660Thr) rs776231831
NM_001271208.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
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.5120C>A (p.Ala1707Glu)
NM_001271208.2(NEB):c.5174T>C (p.Phe1725Ser)
NM_001271208.2(NEB):c.5211_5213del (p.Asn1737del) rs1553491789
NM_001271208.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039
NM_001271208.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207
NM_001271208.2(NEB):c.5434A>G (p.Arg1812Gly)
NM_001271208.2(NEB):c.5444C>G (p.Ala1815Gly)
NM_001271208.2(NEB):c.5495T>C (p.Ile1832Thr)
NM_001271208.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315
NM_001271208.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001271208.2(NEB):c.5566C>T (p.Arg1856Trp)
NM_001271208.2(NEB):c.5581G>A (p.Gly1861Arg)
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.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001271208.2(NEB):c.5768A>G (p.Gln1923Arg)
NM_001271208.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355
NM_001271208.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350
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.6046G>C (p.Ala2016Pro) rs1558927613
NM_001271208.2(NEB):c.6085A>C (p.Lys2029Gln)
NM_001271208.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067
NM_001271208.2(NEB):c.6119A>G (p.Tyr2040Cys)
NM_001271208.2(NEB):c.6145A>G (p.Ile2049Val)
NM_001271208.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974
NM_001271208.2(NEB):c.61G>A (p.Glu21Lys) rs199907781
NM_001271208.2(NEB):c.6244G>A (p.Glu2082Lys)
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.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.6591A>G (p.Glu2197=) rs1553462437
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.6719A>G (p.Asp2240Gly) rs1362776689
NM_001271208.2(NEB):c.6873T>G (p.Ile2291Met)
NM_001271208.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530
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.71C>T (p.Pro24Leu) rs185496567
NM_001271208.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384
NM_001271208.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626
NM_001271208.2(NEB):c.7324A>G (p.Ile2442Val) rs1553447698
NM_001271208.2(NEB):c.7343G>A (p.Arg2448His) rs373589529
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.7549A>G (p.Met2517Val) rs577856870
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.764C>G (p.Pro255Arg) rs1553663195
NM_001271208.2(NEB):c.7691G>T (p.Gly2564Val)
NM_001271208.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001271208.2(NEB):c.7864G>A (p.Val2622Met) rs905660353
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.8020G>A (p.Glu2674Lys)
NM_001271208.2(NEB):c.8024A>G (p.Asp2675Gly)
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.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.8203C>G (p.His2735Asp)
NM_001271208.2(NEB):c.8315T>G (p.Met2772Arg)
NM_001271208.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001271208.2(NEB):c.8356A>G (p.Arg2786Gly)
NM_001271208.2(NEB):c.8381A>T (p.Tyr2794Phe)
NM_001271208.2(NEB):c.8393A>G (p.Tyr2798Cys)
NM_001271208.2(NEB):c.8467G>A (p.Val2823Met)
NM_001271208.2(NEB):c.8469G>A (p.Val2823=)
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207
NM_001271208.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016
NM_001271208.2(NEB):c.8690T>C (p.Met2897Thr)
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.8864A>G (p.Lys2955Arg)
NM_001271208.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972
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.9002A>G (p.Tyr3001Cys)
NM_001271208.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452
NM_001271208.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647
NM_001271208.2(NEB):c.9055G>A (p.Ala3019Thr)
NM_001271208.2(NEB):c.9067G>A (p.Val3023Met)
NM_001271208.2(NEB):c.9112A>G (p.Lys3038Glu)
NM_001271208.2(NEB):c.9126C>T (p.Cys3042=) rs373453206
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.2(NEB):c.9178A>G (p.Met3060Val) rs538524863
NM_001271208.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001271208.2(NEB):c.9425A>G (p.Lys3142Arg)
NM_001271208.2(NEB):c.9473C>G (p.Ser3158Cys)
NM_001271208.2(NEB):c.9481G>A (p.Val3161Met) rs1560693635
NM_001271208.2(NEB):c.9542A>C (p.Asp3181Ala)
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.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.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.9827G>A (p.Ser3276Asn) rs1168444365
NM_001271208.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955
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.994G>A (p.Glu332Lys) rs748518353
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His)
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr)
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) rs750512280
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly)
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe)
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) rs778003504
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) rs1237694295
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) rs547547946
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.614G>A (p.Arg205Gln) rs576773055
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) rs781536513
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.567-4A>C
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)
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.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.857A>C (p.Ter286Ser) rs199474720

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