ClinVar Miner

List of variants reported as likely benign for Nemaline myopathy 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 558
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HGVS dbSNP
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001271208.2(NEB):c.10047C>T (p.Ser3349=) rs763268909
NM_001271208.2(NEB):c.10074C>T (p.His3358=) rs896373241
NM_001271208.2(NEB):c.10083G>A (p.Thr3361=) rs778762176
NM_001271208.2(NEB):c.10092C>T (p.Pro3364=) rs768708852
NM_001271208.2(NEB):c.10140C>T (p.Ser3380=) rs199870629
NM_001271208.2(NEB):c.10144-17_10144-9dup rs1574263120
NM_001271208.2(NEB):c.10233T>C (p.Ala3411=) rs727504033
NM_001271208.2(NEB):c.1035+7G>A rs748388746
NM_001271208.2(NEB):c.1035+8G>A rs755517435
NM_001271208.2(NEB):c.10377C>T (p.Asp3459=) rs373823362
NM_001271208.2(NEB):c.10561-9C>T rs1573943509
NM_001271208.2(NEB):c.10578A>G (p.Ala3526=) rs760118695
NM_001271208.2(NEB):c.105G>A (p.Thr35=) rs368075131
NM_001271208.2(NEB):c.10608C>T (p.Gly3536=) rs144673752
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.10800G>A (p.Leu3600=) rs1189151767
NM_001271208.2(NEB):c.10816C>T (p.Leu3606=) rs1188058379
NM_001271208.2(NEB):c.10821C>T (p.Pro3607=) rs375814899
NM_001271208.2(NEB):c.10977T>C (p.Asp3659=) rs767853017
NM_001271208.2(NEB):c.10986C>T (p.Tyr3662=) rs373365702
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11034G>A (p.Pro3678=) rs528974814
NM_001271208.2(NEB):c.11067C>T (p.Asn3689=) rs200427401
NM_001271208.2(NEB):c.11077-4G>T rs878924060
NM_001271208.2(NEB):c.11199T>C (p.Ala3733=) rs756871030
NM_001271208.2(NEB):c.1119G>A (p.Arg373=) rs200914626
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.2(NEB):c.11361G>A (p.Pro3787=) rs200043736
NM_001271208.2(NEB):c.11394C>T (p.Ile3798=) rs756403694
NM_001271208.2(NEB):c.11457G>A (p.Val3819=) rs780152095
NM_001271208.2(NEB):c.114G>A (p.Arg38=) rs1578040445
NM_001271208.2(NEB):c.11559T>C (p.Asn3853=) rs369429046
NM_001271208.2(NEB):c.11589C>T (p.Asp3863=) rs372772607
NM_001271208.2(NEB):c.11670C>T (p.Val3890=) rs757703477
NM_001271208.2(NEB):c.11709G>A (p.Arg3903=) rs570142622
NM_001271208.2(NEB):c.11712G>A (p.Lys3904=) rs767231395
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11754C>T (p.Thr3918=) rs368230090
NM_001271208.2(NEB):c.1182A>C (p.Thr394=) rs186233985
NM_001271208.2(NEB):c.1182A>G (p.Thr394=) rs186233985
NM_001271208.2(NEB):c.11850C>T (p.His3950=) rs777244382
NM_001271208.2(NEB):c.12045A>G (p.Lys4015=) rs949086164
NM_001271208.2(NEB):c.12074G>T (p.Ser4025Ile) rs767858255
NM_001271208.2(NEB):c.12288C>T (p.Asn4096=) rs755521679
NM_001271208.2(NEB):c.12303A>C (p.Ala4101=) rs1553882764
NM_001271208.2(NEB):c.1230T>C (p.Asp410=) rs78892743
NM_001271208.2(NEB):c.12316G>A (p.Asp4106Asn) rs192843524
NM_001271208.2(NEB):c.12331-5T>C rs1171513278
NM_001271208.2(NEB):c.12342G>A (p.Lys4114=) rs1215819197
NM_001271208.2(NEB):c.12358C>T (p.Leu4120=) rs1579062340
NM_001271208.2(NEB):c.12369C>T (p.Ile4123=) rs1277282343
NM_001271208.2(NEB):c.12426C>T (p.Leu4142=) rs1320574868
NM_001271208.2(NEB):c.12474C>T (p.Thr4158=) rs1579059705
NM_001271208.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001271208.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212
NM_001271208.2(NEB):c.1257+13A>T rs75320668
NM_001271208.2(NEB):c.1258-7C>G rs371265681
NM_001271208.2(NEB):c.1258-9G>T rs779907080
NM_001271208.2(NEB):c.12591T>C (p.Asp4197=) rs1553876898
NM_001271208.2(NEB):c.12612C>T (p.Ala4204=) rs1579048112
NM_001271208.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001271208.2(NEB):c.12636C>T (p.Ser4212=) rs1553876762
NM_001271208.2(NEB):c.12640-10C>T rs1264692800
NM_001271208.2(NEB):c.12640-6C>T rs1579019126
NM_001271208.2(NEB):c.12666C>T (p.Asp4222=) rs1310326732
NM_001271208.2(NEB):c.12717C>T (p.His4239=) rs1553875334
NM_001271208.2(NEB):c.12720C>T (p.Ala4240=) rs1579015882
NM_001271208.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001271208.2(NEB):c.12748-10A>G rs1553872572
NM_001271208.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
NM_001271208.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001271208.2(NEB):c.12933T>C (p.Val4311=) rs1578938742
NM_001271208.2(NEB):c.12963C>T (p.Ser4321=) rs1286358276
NM_001271208.2(NEB):c.12966C>T (p.Asp4322=) rs1334385911
NM_001271208.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13017C>T (p.Asn4339=) rs1165436206
NM_001271208.2(NEB):c.13044C>T (p.Tyr4348=) rs1167279039
NM_001271208.2(NEB):c.13047C>T (p.Asp4349=) rs886038431
NM_001271208.2(NEB):c.13048C>T (p.Leu4350=) rs1578935610
NM_001271208.2(NEB):c.13056C>T (p.Ser4352=) rs1468240932
NM_001271208.2(NEB):c.13101A>G (p.Gly4367=) rs1442619838
NM_001271208.2(NEB):c.13128G>A (p.Val4376=) rs760864074
NM_001271208.2(NEB):c.13185T>C (p.Pro4395=) rs1344892267
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.13251A>C (p.Val4417=) rs1246456851
NM_001271208.2(NEB):c.13264-9T>C rs1578874426
NM_001271208.2(NEB):c.13308C>T (p.Asn4436=) rs1553865962
NM_001271208.2(NEB):c.13317T>C (p.Ala4439=) rs1578873204
NM_001271208.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001271208.2(NEB):c.13350_13353delinsCGCT (p.Asn4450_Ala4451=) rs1578872605
NM_001271208.2(NEB):c.13362C>T (p.Ile4454=) rs1553865873
NM_001271208.2(NEB):c.13368+10_13368+11inv
NM_001271208.2(NEB):c.13368+11A>G rs112260335
NM_001271208.2(NEB):c.13369-9T>C rs1553865725
NM_001271208.2(NEB):c.13386T>G (p.Ala4462=) rs1578869691
NM_001271208.2(NEB):c.13420C>A (p.Arg4474=) rs1578869371
NM_001271208.2(NEB):c.13428T>C (p.Asp4476=) rs1578869264
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.13533C>T (p.Ser4511=) rs1168966918
NM_001271208.2(NEB):c.13548T>G (p.Pro4516=) rs1578803539
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.13653G>A (p.Val4551=) rs1553862349
NM_001271208.2(NEB):c.1366-7_1366-5del rs1317027054
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.13737C>T (p.Pro4579=) rs1578801445
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.13785C>T (p.Ser4595=) rs1578800572
NM_001271208.2(NEB):c.1386C>T (p.Tyr462=) rs376911383
NM_001271208.2(NEB):c.1395C>T (p.Asp465=) rs759268469
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.1431A>G (p.Gln477=) rs372236577
NM_001271208.2(NEB):c.144C>T (p.Ser48=) rs373652428
NM_001271208.2(NEB):c.1614T>C (p.His538=) rs769074908
NM_001271208.2(NEB):c.1620C>T (p.Pro540=) rs776014034
NM_001271208.2(NEB):c.1674T>C (p.Asp558=) rs376597690
NM_001271208.2(NEB):c.1675-4C>G rs369915027
NM_001271208.2(NEB):c.1675-9T>C rs75118047
NM_001271208.2(NEB):c.16875C>T (p.Val5625=) rs757882235
NM_001271208.2(NEB):c.16983C>T (p.Leu5661=) rs377481097
NM_001271208.2(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.2(NEB):c.17061C>G (p.Val5687=) rs199756204
NM_001271208.2(NEB):c.17118+8G>A rs767062620
NM_001271208.2(NEB):c.17127T>C (p.Tyr5709=) rs775004844
NM_001271208.2(NEB):c.1713A>G (p.Lys571=) rs753119399
NM_001271208.2(NEB):c.17274C>T (p.Ile5758=) rs372754098
NM_001271208.2(NEB):c.17325T>C (p.Ala5775=) rs375534633
NM_001271208.2(NEB):c.17355C>T (p.Tyr5785=) rs1578007148
NM_001271208.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831
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.17574G>A (p.Thr5858=) rs780714195
NM_001271208.2(NEB):c.17628C>T (p.Leu5876=) rs377183242
NM_001271208.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001271208.2(NEB):c.17728C>T (p.Leu5910=) rs756046096
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.17832C>T (p.Asp5944=) rs544453966
NM_001271208.2(NEB):c.17838G>A (p.Gln5946=) rs376199241
NM_001271208.2(NEB):c.17844+7C>T rs373259828
NM_001271208.2(NEB):c.17845-5G>A rs373390654
NM_001271208.2(NEB):c.17845-6C>T rs376370460
NM_001271208.2(NEB):c.17862A>G (p.Glu5954=) rs565162006
NM_001271208.2(NEB):c.1800C>T (p.Asp600=) rs532710372
NM_001271208.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001271208.2(NEB):c.18144C>T (p.Asp6048=) rs1319860549
NM_001271208.2(NEB):c.18153T>C (p.Ser6051=) rs1381905125
NM_001271208.2(NEB):c.18224A>C (p.His6075Pro) rs768813228
NM_001271208.2(NEB):c.18342G>A (p.Lys6114=) rs565998554
NM_001271208.2(NEB):c.18366+9G>A rs759834773
NM_001271208.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794
NM_001271208.2(NEB):c.18411G>A (p.Thr6137=) rs767659024
NM_001271208.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223
NM_001271208.2(NEB):c.18472-4C>G rs756954250
NM_001271208.2(NEB):c.18489G>A (p.Ala6163=) rs371669095
NM_001271208.2(NEB):c.18519C>T (p.Thr6173=) rs745448583
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18567G>A (p.Leu6189=) rs773819516
NM_001271208.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.2(NEB):c.18579+6T>C rs116189169
NM_001271208.2(NEB):c.18622C>G (p.Leu6208Val) rs374727099
NM_001271208.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889
NM_001271208.2(NEB):c.18694-12dup rs753417927
NM_001271208.2(NEB):c.18694-7A>T rs373371474
NM_001271208.2(NEB):c.18762C>T (p.His6254=) rs748339284
NM_001271208.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999
NM_001271208.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737
NM_001271208.2(NEB):c.18831G>A (p.Thr6277=) rs368876425
NM_001271208.2(NEB):c.18870C>T (p.Asn6290=) rs200122580
NM_001271208.2(NEB):c.1896+7T>A rs1553600682
NM_001271208.2(NEB):c.18997-10T>G rs4544436
NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19102-31_19102-30del rs774225336
NM_001271208.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316
NM_001271208.2(NEB):c.19284C>T (p.His6428=) rs201005449
NM_001271208.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001271208.2(NEB):c.192G>A (p.Lys64=) rs761189437
NM_001271208.2(NEB):c.19315-10T>C rs201473873
NM_001271208.2(NEB):c.19315-4A>G rs778306769
NM_001271208.2(NEB):c.19386G>A (p.Pro6462=) rs199835469
NM_001271208.2(NEB):c.19428+9G>A rs770023245
NM_001271208.2(NEB):c.19428T>C (p.Asp6476=) rs1390912272
NM_001271208.2(NEB):c.19429-7T>C rs561767644
NM_001271208.2(NEB):c.19476C>T (p.Ile6492=) rs113068669
NM_001271208.2(NEB):c.19482C>T (p.Pro6494=) rs200333206
NM_001271208.2(NEB):c.19506C>T (p.Ala6502=) rs1011926091
NM_001271208.2(NEB):c.1953G>A (p.Glu651=) rs367997645
NM_001271208.2(NEB):c.19557C>T (p.His6519=) rs371785128
NM_001271208.2(NEB):c.19575C>T (p.Pro6525=) rs1361349634
NM_001271208.2(NEB):c.195G>A (p.Pro65=) rs79524813
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651
NM_001271208.2(NEB):c.19704C>T (p.Ala6568=) rs760335435
NM_001271208.2(NEB):c.19732-8C>T rs137934821
NM_001271208.2(NEB):c.1974T>C (p.Asp658=) rs199528953
NM_001271208.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644
NM_001271208.2(NEB):c.19788T>C (p.Asp6596=) rs974199168
NM_001271208.2(NEB):c.19800C>T (p.Tyr6600=) rs552379239
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.19836+10C>G rs148814261
NM_001271208.2(NEB):c.19899C>T (p.Thr6633=) rs370742146
NM_001271208.2(NEB):c.19944+3G>A rs115142419
NM_001271208.2(NEB):c.19959C>T (p.Thr6653=) rs758068690
NM_001271208.2(NEB):c.20019C>T (p.His6673=) rs374881368
NM_001271208.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762
NM_001271208.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685
NM_001271208.2(NEB):c.20106C>T (p.Pro6702=) rs1553717815
NM_001271208.2(NEB):c.20127C>T (p.His6709=) rs368328496
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.20158-5C>T rs376869270
NM_001271208.2(NEB):c.20199C>T (p.Ile6733=) rs1322022679
NM_001271208.2(NEB):c.20263-7del rs763008896
NM_001271208.2(NEB):c.20316A>T (p.Pro6772=) rs772552779
NM_001271208.2(NEB):c.20343C>T (p.Arg6781=) rs1455500980
NM_001271208.2(NEB):c.20346T>C (p.Tyr6782=) rs767355230
NM_001271208.2(NEB):c.20355C>T (p.Asp6785=) rs140323673
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.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.20671C>T (p.Leu6891Phe) rs182866658
NM_001271208.2(NEB):c.20682+13G>A rs189918704
NM_001271208.2(NEB):c.20682+9A>C rs1576818801
NM_001271208.2(NEB):c.20727C>T (p.His6909=) rs779779886
NM_001271208.2(NEB):c.20835G>A (p.Pro6945=) rs186244044
NM_001271208.2(NEB):c.20853C>T (p.Ile6951=) rs199730497
NM_001271208.2(NEB):c.20893-11T>C
NM_001271208.2(NEB):c.20940G>A (p.Thr6980=) rs369611234
NM_001271208.2(NEB):c.20946A>G (p.Lys6982=) rs371201870
NM_001271208.2(NEB):c.21027G>A (p.Gln7009=) rs758282270
NM_001271208.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
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.2107-8C>T rs369441230
NM_001271208.2(NEB):c.21162C>T (p.Thr7054=) rs766718173
NM_001271208.2(NEB):c.21207+8T>C rs1553686509
NM_001271208.2(NEB):c.21266C>G (p.Ser7089Cys) rs774297352
NM_001271208.2(NEB):c.21270G>T (p.Pro7090=) rs368887173
NM_001271208.2(NEB):c.21276T>C (p.Asn7092=) rs780045200
NM_001271208.2(NEB):c.21300A>G (p.Gln7100=) rs1050612430
NM_001271208.2(NEB):c.21396C>T (p.Thr7132=) rs759637718
NM_001271208.2(NEB):c.21418-9C>T rs1576549807
NM_001271208.2(NEB):c.21426T>C (p.Tyr7142=) rs372326115
NM_001271208.2(NEB):c.21476G>A (p.Arg7159His) rs201094791
NM_001271208.2(NEB):c.21522+3A>G rs148950085
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.21524T>C (p.Ile7175Thr) rs200112795
NM_001271208.2(NEB):c.21618A>C (p.Gln7206His) rs542149432
NM_001271208.2(NEB):c.21627T>C (p.Asp7209=) rs185169373
NM_001271208.2(NEB):c.21630C>T (p.Ile7210=) rs369183371
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.21736-7C>T rs374513817
NM_001271208.2(NEB):c.21736-8T>C rs1394610862
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.217C>T (p.Arg73Trp) rs77994592
NM_001271208.2(NEB):c.21840T>C (p.Asn7280=) rs568248647
NM_001271208.2(NEB):c.21870C>T (p.Asn7290=) rs180903156
NM_001271208.2(NEB):c.21966G>A (p.Arg7322=) rs372808358
NM_001271208.2(NEB):c.21967G>C (p.Glu7323Gln) rs768693028
NM_001271208.2(NEB):c.22011C>T (p.Asn7337=) rs757845188
NM_001271208.2(NEB):c.22074C>T (p.Val7358=) rs554809115
NM_001271208.2(NEB):c.22077G>A (p.Lys7359=) rs267598918
NM_001271208.2(NEB):c.22081A>C (p.Arg7361=) rs780790042
NM_001271208.2(NEB):c.22128G>A (p.Ala7376=) rs533246582
NM_001271208.2(NEB):c.22155+13C>T rs113403461
NM_001271208.2(NEB):c.22209A>T (p.Thr7403=) rs756011050
NM_001271208.2(NEB):c.22213C>G (p.Pro7405Ala) rs200304547
NM_001271208.2(NEB):c.22215A>G (p.Pro7405=) rs539800267
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22257T>C (p.His7419=) rs771582884
NM_001271208.2(NEB):c.22299A>G (p.Lys7433=) rs1232660353
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-10C>T rs781520817
NM_001271208.2(NEB):c.22378-36CT[5] rs751597547
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.2250G>A (p.Thr750=) rs753965951
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.22653G>A (p.Gln7551=) rs200776925
NM_001271208.2(NEB):c.22734C>T (p.Pro7578=) rs373263895
NM_001271208.2(NEB):c.22743C>T (p.Asp7581=) rs372279388
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22801-10T>C rs1212927796
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.22995G>A (p.Gln7665=) rs765598242
NM_001271208.2(NEB):c.23010+7C>T rs1426040506
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23091T>C (p.His7697=) rs149606244
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23136A>G (p.Lys7712=) rs968522988
NM_001271208.2(NEB):c.23233-18del rs1553616477
NM_001271208.2(NEB):c.23233-5T>C rs1349957816
NM_001271208.2(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.2(NEB):c.23346+16C>T rs75221580
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.2343G>A (p.Lys781=) rs191610670
NM_001271208.2(NEB):c.23487G>A (p.Ser7829=) rs770713773
NM_001271208.2(NEB):c.23523G>T (p.Gln7841His) rs765789028
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23619A>G (p.Pro7873=) rs1575473569
NM_001271208.2(NEB):c.23629C>T (p.Arg7877Cys) rs184516994
NM_001271208.2(NEB):c.23700C>T (p.Ile7900=) rs370825760
NM_001271208.2(NEB):c.23755-7_23755-6delinsAT rs1575422447
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.2382C>T (p.Ile794=) rs532547534
NM_001271208.2(NEB):c.23847+8C>T rs1575419282
NM_001271208.2(NEB):c.23847+9C>T rs762973833
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.23910A>G (p.Arg7970=) rs1481356421
NM_001271208.2(NEB):c.2391A>G (p.Arg797=) rs1031672649
NM_001271208.2(NEB):c.23934T>C (p.Phe7978=) rs1575331983
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24126+8G>A rs1361035933
NM_001271208.2(NEB):c.2416-6G>T rs185433570
NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) rs144634228
NM_001271208.2(NEB):c.24213T>C (p.Phe8071=) rs748169663
NM_001271208.2(NEB):c.24282A>G (p.Arg8094=) rs1030563077
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24313-10T>C rs1061322
NM_001271208.2(NEB):c.24406-7C>T rs755582434
NM_001271208.2(NEB):c.24450C>T (p.Val8150=) rs922674535
NM_001271208.2(NEB):c.24558G>A (p.Glu8186=) rs372540293
NM_001271208.2(NEB):c.24558_24559delinsAA (p.Glu8186_Arg8187=) rs1574938607
NM_001271208.2(NEB):c.24591+10G>A rs755064162
NM_001271208.2(NEB):c.24591+9C>A rs763870394
NM_001271208.2(NEB):c.24624C>T (p.Thr8208=) rs748978197
NM_001271208.2(NEB):c.24675C>T (p.Asn8225=) rs201566336
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.24750G>A (p.Val8250=) rs769610035
NM_001271208.2(NEB):c.2475C>T (p.Asp825=) rs180881237
NM_001271208.2(NEB):c.24843T>C (p.Ala8281=) rs1057524338
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24870+8C>T rs374935839
NM_001271208.2(NEB):c.24925T>C (p.Leu8309=) rs372203426
NM_001271208.2(NEB):c.249C>T (p.Thr83=) rs200936927
NM_001271208.2(NEB):c.25014T>C (p.Gly8338=) rs754365974
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.25110A>G (p.Lys8370=) rs996538018
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.2524-15G>T rs151206071
NM_001271208.2(NEB):c.25344A>G (p.Glu8448=) rs576696191
NM_001271208.2(NEB):c.25374C>T (p.Ser8458=) rs776563539
NM_001271208.2(NEB):c.25394T>C (p.Val8465Ala) rs151338614
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25473G>A (p.Thr8491=) rs200083849
NM_001271208.2(NEB):c.25510-7C>T rs372113031
NM_001271208.2(NEB):c.25575A>G (p.Gly8525=) rs778502509
NM_001271208.2(NEB):c.25629G>A (p.Val8543=) rs1574250751
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
NM_001271208.2(NEB):c.2589C>T (p.Asp863=) rs370176216
NM_001271208.2(NEB):c.2607C>T (p.His869=) rs1576361832
NM_001271208.2(NEB):c.2739C>T (p.Ser913=) rs185674525
NM_001271208.2(NEB):c.2742C>T (p.Asp914=) rs766761991
NM_001271208.2(NEB):c.2781C>G (p.Pro927=) rs745481666
NM_001271208.2(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.2(NEB):c.293C>T (p.Pro98Leu) rs201473194
NM_001271208.2(NEB):c.295-8C>T rs767768026
NM_001271208.2(NEB):c.2979T>C (p.Phe993=) rs780408206
NM_001271208.2(NEB):c.2985G>A (p.Ser995=) rs574544074
NM_001271208.2(NEB):c.3024C>T (p.Asn1008=) rs1273538969
NM_001271208.2(NEB):c.3105C>T (p.Pro1035=) rs778589014
NM_001271208.2(NEB):c.3147+9G>A rs751551042
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.322A>G (p.Thr108Ala) rs544069233
NM_001271208.2(NEB):c.3246G>A (p.Ala1082=) rs372664114
NM_001271208.2(NEB):c.3402G>A (p.Lys1134=) rs1376146835
NM_001271208.2(NEB):c.3417G>T (p.Thr1139=) rs372593815
NM_001271208.2(NEB):c.3438C>T (p.Val1146=) rs373118761
NM_001271208.2(NEB):c.3444G>A (p.Ala1148=) rs375569766
NM_001271208.2(NEB):c.3468C>T (p.Val1156=) rs373258662
NM_001271208.2(NEB):c.3519C>T (p.Asp1173=) rs376512820
NM_001271208.2(NEB):c.3568-10A>G rs774345653
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.36+9T>A rs754439228
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.3759G>A (p.Thr1253=) rs763075598
NM_001271208.2(NEB):c.3775-8T>C rs1470998589
NM_001271208.2(NEB):c.3816C>T (p.Tyr1272=) rs765183358
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.3867C>T (p.Tyr1289=) rs1010944283
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.3918G>A (p.Lys1306=) rs368682145
NM_001271208.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632
NM_001271208.2(NEB):c.4032G>T (p.Val1344=) rs373748794
NM_001271208.2(NEB):c.4060A>G (p.Lys1354Glu) rs371454282
NM_001271208.2(NEB):c.4116G>A (p.Lys1372=) rs202144520
NM_001271208.2(NEB):c.4149C>T (p.Thr1383=) rs148794372
NM_001271208.2(NEB):c.4197C>T (p.Val1399=) rs771328367
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4218A>G (p.Lys1406=) rs754513702
NM_001271208.2(NEB):c.4251C>T (p.Asp1417=) rs550832252
NM_001271208.2(NEB):c.426T>C (p.Asp142=) rs200590080
NM_001271208.2(NEB):c.4299+7A>G rs373926259
NM_001271208.2(NEB):c.4299+9G>A rs746505680
NM_001271208.2(NEB):c.4300-4A>G rs762231656
NM_001271208.2(NEB):c.4326C>T (p.Ser1442=) rs1196827078
NM_001271208.2(NEB):c.4341C>T (p.Ile1447=) rs576286059
NM_001271208.2(NEB):c.4350C>T (p.Ile1450=) rs1218846191
NM_001271208.2(NEB):c.4398A>G (p.Ala1466=) rs368136951
NM_001271208.2(NEB):c.4431T>C (p.Asp1477=) rs140558263
NM_001271208.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4507-3del rs767772701
NM_001271208.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655
NM_001271208.2(NEB):c.4593C>T (p.Asn1531=) rs373328073
NM_001271208.2(NEB):c.4596C>T (p.Ala1532=) rs1258108366
NM_001271208.2(NEB):c.4607G>A (p.Ser1536Asn) rs182143534
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4740C>T (p.Tyr1580=) rs766168868
NM_001271208.2(NEB):c.4833T>C (p.Asp1611=) rs1413754733
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4857A>G (p.Glu1619=) rs1313191028
NM_001271208.2(NEB):c.4878C>T (p.His1626=) rs774544008
NM_001271208.2(NEB):c.492G>T (p.Ser164=) rs371015050
NM_001271208.2(NEB):c.4938C>T (p.Asn1646=) rs765208384
NM_001271208.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5031+4T>C rs370999716
NM_001271208.2(NEB):c.5032-15T>C rs201180226
NM_001271208.2(NEB):c.5055C>A (p.Thr1685=) rs1575578013
NM_001271208.2(NEB):c.5073C>T (p.Ile1691=) rs190322907
NM_001271208.2(NEB):c.508-6G>A rs374227241
NM_001271208.2(NEB):c.5121A>G (p.Ala1707=) rs371962475
NM_001271208.2(NEB):c.5160C>T (p.Pro1720=) rs377168964
NM_001271208.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946
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.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988
NM_001271208.2(NEB):c.5452-4A>G rs376623225
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.5616G>A (p.Pro1872=) rs368371414
NM_001271208.2(NEB):c.5628C>G (p.Leu1876=) rs771407375
NM_001271208.2(NEB):c.5688G>T (p.Val1896=) rs766626019
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5712T>C (p.Pro1904=) rs35946547
NM_001271208.2(NEB):c.5724C>T (p.Ser1908=) rs370965998
NM_001271208.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692
NM_001271208.2(NEB):c.576T>C (p.Leu192=) rs755554259
NM_001271208.2(NEB):c.5802C>T (p.Gly1934=) rs139963368
NM_001271208.2(NEB):c.5827C>T (p.Leu1943=) rs773023806
NM_001271208.2(NEB):c.5853C>A (p.Ala1951=) rs757546480
NM_001271208.2(NEB):c.585C>T (p.Ala195=) rs374538366
NM_001271208.2(NEB):c.5868T>C (p.Ser1956=) rs374717947
NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_001271208.2(NEB):c.5925G>A (p.Ser1975=) rs1206630690
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.5970+7C>G rs975930519
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6033C>T (p.Pro2011=) rs773482640
NM_001271208.2(NEB):c.6043T>C (p.Leu2015=) rs748458556
NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444
NM_001271208.2(NEB):c.60C>T (p.Tyr20=) rs768163455
NM_001271208.2(NEB):c.612+15C>T rs112288851
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6219G>A (p.Gly2073=) rs960591817
NM_001271208.2(NEB):c.6291A>G (p.Gln2097=) rs753864118
NM_001271208.2(NEB):c.6351C>T (p.Ala2117=) rs756476348
NM_001271208.2(NEB):c.6369G>A (p.Thr2123=) rs540542570
NM_001271208.2(NEB):c.6390C>T (p.Ala2130=) rs974601635
NM_001271208.2(NEB):c.6435C>T (p.Ile2145=) rs375014703
NM_001271208.2(NEB):c.6474T>C (p.Asn2158=) rs1191985703
NM_001271208.2(NEB):c.6507G>A (p.Lys2169=) rs267598923
NM_001271208.2(NEB):c.6513T>C (p.Asp2171=) rs376535906
NM_001271208.2(NEB):c.6624G>A (p.Pro2208=) rs373278622
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.6825A>T (p.Gly2275=) rs761057549
NM_001271208.2(NEB):c.6876T>C (p.Ser2292=) rs1307944333
NM_001271208.2(NEB):c.6A>T (p.Ala2=) rs778187569
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.7167A>G (p.Thr2389=) rs768429146
NM_001271208.2(NEB):c.718-6C>T rs371791129
NM_001271208.2(NEB):c.7185C>T (p.Asn2395=) rs775336786
NM_001271208.2(NEB):c.7209T>A (p.Val2403=) rs778083630
NM_001271208.2(NEB):c.7317G>A (p.Ser2439=) rs199977733
NM_001271208.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237
NM_001271208.2(NEB):c.7374C>T (p.Ser2458=) rs1318587515
NM_001271208.2(NEB):c.738C>T (p.Leu246=) rs368500993
NM_001271208.2(NEB):c.7473C>A (p.Ile2491=) rs760783298
NM_001271208.2(NEB):c.7473C>T (p.Ile2491=) rs760783298
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.7623C>T (p.Ala2541=) rs371570995
NM_001271208.2(NEB):c.762G>A (p.Thr254=) rs770784055
NM_001271208.2(NEB):c.7677C>T (p.Leu2559=) rs371565168
NM_001271208.2(NEB):c.7737T>C (p.His2579=) rs528614990
NM_001271208.2(NEB):c.7831T>C (p.Leu2611=) rs772164378
NM_001271208.2(NEB):c.7854A>G (p.Leu2618=) rs370074798
NM_001271208.2(NEB):c.7860C>T (p.Ser2620=) rs753267809
NM_001271208.2(NEB):c.7863C>T (p.Asp2621=) rs1419803549
NM_001271208.2(NEB):c.7865T>G (p.Val2622Gly) rs563691738
NM_001271208.2(NEB):c.7884G>A (p.Leu2628=) rs1574938723
NM_001271208.2(NEB):c.7908C>T (p.Asp2636=) rs774348830
NM_001271208.2(NEB):c.7914C>T (p.Ser2638=) rs373353657
NM_001271208.2(NEB):c.7917T>C (p.Asp2639=) rs745410848
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.795C>T (p.Ala265=) rs758702606
NM_001271208.2(NEB):c.8019C>T (p.Leu2673=) rs755883171
NM_001271208.2(NEB):c.8063A>G (p.His2688Arg) rs201119402
NM_001271208.2(NEB):c.8072G>A (p.Arg2691His) rs35555631
NM_001271208.2(NEB):c.807C>A (p.Thr269=) rs1430006856
NM_001271208.2(NEB):c.8319G>T (p.Arg2773=) rs746644593
NM_001271208.2(NEB):c.8328C>T (p.Ala2776=) rs373449008
NM_001271208.2(NEB):c.8406C>T (p.Leu2802=) rs377170982
NM_001271208.2(NEB):c.8499G>A (p.Lys2833=) rs183998406
NM_001271208.2(NEB):c.8601C>T (p.Tyr2867=) rs1286220682
NM_001271208.2(NEB):c.8625A>G (p.Thr2875=) rs200386897
NM_001271208.2(NEB):c.8634C>T (p.Pro2878=) rs776571715
NM_001271208.2(NEB):c.8682C>T (p.Ser2894=) rs373799650
NM_001271208.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.2(NEB):c.8775T>C (p.Thr2925=) rs761257246
NM_001271208.2(NEB):c.8890-6del rs771652505
NM_001271208.2(NEB):c.9051C>T (p.Ser3017=) rs777722290
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
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.914A>G (p.Asp305Gly) rs36105240
NM_001271208.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993
NM_001271208.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.2(NEB):c.927+10G>A rs1328277826
NM_001271208.2(NEB):c.927+7T>C rs746940000
NM_001271208.2(NEB):c.9285G>A (p.Val3095=) rs1306359674
NM_001271208.2(NEB):c.9345C>T (p.His3115=) rs367739638
NM_001271208.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001271208.2(NEB):c.9360G>A (p.Leu3120=) rs749865900
NM_001271208.2(NEB):c.9363T>G (p.Pro3121=) rs6709886
NM_001271208.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219
NM_001271208.2(NEB):c.9468T>C (p.Ile3156=) rs751747575
NM_001271208.2(NEB):c.9504C>T (p.Thr3168=) rs770587751
NM_001271208.2(NEB):c.9540G>A (p.Pro3180=) rs373833313
NM_001271208.2(NEB):c.9619-9C>T rs778009768
NM_001271208.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739
NM_001271208.2(NEB):c.9813C>T (p.Ser3271=) rs372239158
NM_001271208.2(NEB):c.9832-7A>T rs778183317
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138

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