ClinVar Miner

List of variants studied for Nemaline myopathy 2 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 454
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HGVS dbSNP
NM_001164507.1(NEB):c.-195C>T
NM_001271208.2(NEB):c.*201A>T
NM_001271208.2(NEB):c.*212T>C
NM_001271208.2(NEB):c.*316C>T
NM_001271208.2(NEB):c.*36C>T rs773628949
NM_001271208.2(NEB):c.*57C>T rs566096042
NM_001271208.2(NEB):c.*95G>A
NM_001271208.2(NEB):c.-114+3A>G rs772077208
NM_001271208.2(NEB):c.-167G>T rs886054948
NM_001271208.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773
NM_001271208.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449
NM_001271208.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
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.10419G>A (p.Met3473Ile)
NM_001271208.2(NEB):c.10452+9A>G rs117270796
NM_001271208.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778
NM_001271208.2(NEB):c.10463G>A (p.Arg3488His) rs371605774
NM_001271208.2(NEB):c.10583G>A (p.Arg3528His) rs199584268
NM_001271208.2(NEB):c.10608C>T (p.Gly3536=) rs144673752
NM_001271208.2(NEB):c.10707G>A (p.Lys3569=) rs6717213
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.10992G>C (p.Gln3664His)
NM_001271208.2(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.2(NEB):c.11023A>G (p.Thr3675Ala)
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11037G>A (p.Glu3679=) rs886054942
NM_001271208.2(NEB):c.11076+12A>G rs201250579
NM_001271208.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865
NM_001271208.2(NEB):c.11133T>C (p.Asp3711=) rs547109690
NM_001271208.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191
NM_001271208.2(NEB):c.11164C>A (p.Arg3722=)
NM_001271208.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644
NM_001271208.2(NEB):c.11182-8T>A rs183088493
NM_001271208.2(NEB):c.1119G>A (p.Arg373=) rs200914626
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156
NM_001271208.2(NEB):c.11361G>A (p.Pro3787=) rs200043736
NM_001271208.2(NEB):c.11479G>A (p.Ala3827Thr)
NM_001271208.2(NEB):c.1152+5G>A rs111404077
NM_001271208.2(NEB):c.11563G>A (p.Val3855Ile)
NM_001271208.2(NEB):c.11602-13A>T rs886054941
NM_001271208.2(NEB):c.11615C>G (p.Ser3872Cys) rs886054940
NM_001271208.2(NEB):c.11717G>A (p.Arg3906His)
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11763G>A (p.Pro3921=)
NM_001271208.2(NEB):c.11769T>C (p.Ile3923=) rs80320923
NM_001271208.2(NEB):c.1182A>C (p.Thr394=) rs186233985
NM_001271208.2(NEB):c.11851G>A (p.Val3951Met) rs759624618
NM_001271208.2(NEB):c.11889T>A (p.Ser3963Arg)
NM_001271208.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449
NM_001271208.2(NEB):c.12018+8C>G
NM_001271208.2(NEB):c.12103G>A (p.Ala4035Thr)
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609
NM_001271208.2(NEB):c.12210C>G (p.Ala4070=) rs749556191
NM_001271208.2(NEB):c.12258G>C (p.Leu4086=)
NM_001271208.2(NEB):c.12279G>A (p.Pro4093=) rs367638234
NM_001271208.2(NEB):c.1227C>G (p.Leu409=) rs371658494
NM_001271208.2(NEB):c.1227C>T (p.Leu409=)
NM_001271208.2(NEB):c.1257+13A>T rs75320668
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.1365+14C>A rs750849844
NM_001271208.2(NEB):c.13G>A (p.Glu5Lys) rs374390581
NM_001271208.2(NEB):c.1404A>G (p.Lys468=)
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
NM_001271208.2(NEB):c.16735C>T (p.Arg5579Cys)
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16750A>G (p.Met5584Val)
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.16984G>A (p.Ala5662Thr)
NM_001271208.2(NEB):c.1698G>A (p.Glu566=)
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.17161G>A (p.Val5721Met)
NM_001271208.2(NEB):c.17180G>C (p.Arg5727Thr)
NM_001271208.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317
NM_001271208.2(NEB):c.17369C>T (p.Thr5790Ile) rs752014573
NM_001271208.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831
NM_001271208.2(NEB):c.17462G>A (p.Arg5821His) rs773239926
NM_001271208.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996
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.17845-5G>A rs373390654
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483
NM_001271208.2(NEB):c.17931T>C (p.Phe5977=) rs886054938
NM_001271208.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001271208.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
NM_001271208.2(NEB):c.18166A>G (p.Arg6056Gly)
NM_001271208.2(NEB):c.18262-13C>T rs374553944
NM_001271208.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211
NM_001271208.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg) rs34504204
NM_001271208.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223
NM_001271208.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
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+11C>T rs567282220
NM_001271208.2(NEB):c.18579+15T>C
NM_001271208.2(NEB):c.185C>T (p.Ser62Leu)
NM_001271208.2(NEB):c.18613G>A (p.Gly6205Ser)
NM_001271208.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18724A>G (p.Lys6242Glu) rs886054937
NM_001271208.2(NEB):c.18737A>G (p.His6246Arg)
NM_001271208.2(NEB):c.18783G>A (p.Gln6261=) rs148095660
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.18860G>A (p.Arg6287His)
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728
NM_001271208.2(NEB):c.18870C>T (p.Asn6290=) rs200122580
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191
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.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001271208.2(NEB):c.19162G>A (p.Val6388Met)
NM_001271208.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325
NM_001271208.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19315-4A>G rs778306769
NM_001271208.2(NEB):c.19385C>T (p.Pro6462Leu)
NM_001271208.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
NM_001271208.2(NEB):c.19428+8C>A rs773614835
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_001271208.2(NEB):c.19535T>C (p.Ile6512Thr)
NM_001271208.2(NEB):c.1953G>A (p.Glu651=) rs367997645
NM_001271208.2(NEB):c.19550G>A (p.Arg6517His) rs149596493
NM_001271208.2(NEB):c.19593T>C (p.Asp6531=) rs886054935
NM_001271208.2(NEB):c.19597G>A (p.Val6533Ile) rs368484176
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.19686T>G (p.Thr6562=) rs886054934
NM_001271208.2(NEB):c.19699C>A (p.His6567Asn) rs886054933
NM_001271208.2(NEB):c.19722A>G (p.Leu6574=) rs141526973
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.19739A>G (p.Tyr6580Cys)
NM_001271208.2(NEB):c.19746T>C (p.Ala6582=) rs143456239
NM_001271208.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709
NM_001271208.2(NEB):c.19894A>G (p.Lys6632Glu) rs765189771
NM_001271208.2(NEB):c.19919T>G (p.Leu6640Arg) rs886054932
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.20089G>A (p.Gly6697Arg) rs201071685
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
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.20162T>C (p.Leu6721Pro) rs111517514
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20212G>A (p.Asp6738Asn) rs201337732
NM_001271208.2(NEB):c.20218C>A (p.Pro6740Thr)
NM_001271208.2(NEB):c.20228G>A (p.Arg6743His) rs755370356
NM_001271208.2(NEB):c.20290A>G (p.Met6764Val)
NM_001271208.2(NEB):c.20367+15G>C rs886054931
NM_001271208.2(NEB):c.20466+11A>G rs181826071
NM_001271208.2(NEB):c.20466+7G>A rs201684605
NM_001271208.2(NEB):c.20467-4T>A rs199791504
NM_001271208.2(NEB):c.20577+6G>A rs775513148
NM_001271208.2(NEB):c.20578-6G>A rs376710012
NM_001271208.2(NEB):c.20578-8A>G
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668
NM_001271208.2(NEB):c.20682+13G>A rs189918704
NM_001271208.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.20853C>T (p.Ile6951=) rs199730497
NM_001271208.2(NEB):c.20893-11T>C
NM_001271208.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365
NM_001271208.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001271208.2(NEB):c.2099A>G (p.Asn700Ser)
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.2107-8C>T rs369441230
NM_001271208.2(NEB):c.21209A>G (p.Tyr7070Cys) rs754366347
NM_001271208.2(NEB):c.21215A>G (p.Tyr7072Cys)
NM_001271208.2(NEB):c.21221A>G (p.Glu7074Gly)
NM_001271208.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528
NM_001271208.2(NEB):c.21316A>G (p.Lys7106Glu)
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.21524T>C (p.Ile7175Thr) rs200112795
NM_001271208.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21690A>G (p.Thr7230=) rs4664475
NM_001271208.2(NEB):c.21693C>T (p.Pro7231=)
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.2(NEB):c.21884A>G (p.Lys7295Arg)
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21945+13A>C rs75515097
NM_001271208.2(NEB):c.21961G>A (p.Asp7321Asn) rs35625617
NM_001271208.2(NEB):c.21966G>A (p.Arg7322=) rs372808358
NM_001271208.2(NEB):c.22068A>G (p.Lys7356=) rs61730765
NM_001271208.2(NEB):c.22078G>A (p.Glu7360Lys) rs747662624
NM_001271208.2(NEB):c.22099G>A (p.Val7367Ile) rs189609282
NM_001271208.2(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.22142A>T (p.Asn7381Ile)
NM_001271208.2(NEB):c.22155+13C>T rs113403461
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.22292A>G (p.Lys7431Arg) rs201548700
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-5T>C rs886054929
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.2250G>A (p.Thr750=) rs753965951
NM_001271208.2(NEB):c.22544A>C (p.Asp7515Ala) rs886054928
NM_001271208.2(NEB):c.22607A>G (p.Asp7536Gly) rs771620082
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-3C>T
NM_001271208.2(NEB):c.2272C>A (p.Leu758Met)
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22782A>T (p.Thr7594=) rs778662915
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22906-7T>C
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.23075C>T (p.Thr7692Met) rs770889470
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.23129A>T (p.Tyr7710Phe)
NM_001271208.2(NEB):c.23153T>C (p.Ile7718Thr)
NM_001271208.2(NEB):c.23156G>A (p.Arg7719His)
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.23232+4G>A rs764457781
NM_001271208.2(NEB):c.23254G>C (p.Glu7752Gln) rs766321668
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.23486C>T (p.Ser7829Leu) rs41270201
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.2354A>G (p.His785Arg) rs370296542
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.23616G>A (p.Thr7872=) rs35808744
NM_001271208.2(NEB):c.23630G>A (p.Arg7877His)
NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.23903T>C (p.Ile7968Thr)
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24538G>C (p.Ala8180Pro) rs7575451
NM_001271208.2(NEB):c.24554T>C (p.Met8185Thr) rs774559645
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24684G>C (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24745A>G (p.Arg8249Gly) rs772803200
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His) rs201291446
NM_001271208.2(NEB):c.24848G>A (p.Arg8283His)
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24979-8C>T rs200902944
NM_001271208.2(NEB):c.25024C>A (p.Pro8342Thr) rs886054927
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.25133G>A (p.Arg8378Gln) rs886054926
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.25169G>A (p.Arg8390His) rs778972474
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.2524-15G>T rs151206071
NM_001271208.2(NEB):c.25255+12G>A rs4414676
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.25276C>T (p.Arg8426Trp)
NM_001271208.2(NEB):c.25309A>G (p.Ile8437Val) rs1061305
NM_001271208.2(NEB):c.25324G>A (p.Glu8442Lys)
NM_001271208.2(NEB):c.25363T>C (p.Ser8455Pro) rs886054925
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.25519C>T (p.Arg8507Cys) rs542706227
NM_001271208.2(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
NM_001271208.2(NEB):c.25678A>G (p.Ile8560Val)
NM_001271208.2(NEB):c.2573C>T (p.Ala858Val) rs372217127
NM_001271208.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053
NM_001271208.2(NEB):c.2739C>T (p.Ser913=) rs185674525
NM_001271208.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114
NM_001271208.2(NEB):c.2823G>A (p.Ala941=) rs376849181
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.2940T>C (p.Asn980=)
NM_001271208.2(NEB):c.2944-9G>A rs13427102
NM_001271208.2(NEB):c.2957A>G (p.Gln986Arg) rs781465553
NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
NM_001271208.2(NEB):c.3094C>T (p.Pro1032Ser) rs544334101
NM_001271208.2(NEB):c.3147+5G>A rs74859201
NM_001271208.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_001271208.2(NEB):c.3209C>T (p.Ala1070Val)
NM_001271208.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393
NM_001271208.2(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.2(NEB):c.3399A>G (p.Thr1133=) rs543961404
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.3424G>A (p.Asp1142Asn)
NM_001271208.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566
NM_001271208.2(NEB):c.3444G>A (p.Ala1148=) rs375569766
NM_001271208.2(NEB):c.355A>G (p.Thr119Ala) rs182207224
NM_001271208.2(NEB):c.3571G>A (p.Val1191Ile)
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.367C>T (p.Arg123Cys) rs200555425
NM_001271208.2(NEB):c.3694C>G (p.Pro1232Ala) rs776796255
NM_001271208.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.3815A>G (p.Tyr1272Cys)
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_001271208.2(NEB):c.3987+11A>T rs116903097
NM_001271208.2(NEB):c.4072T>C (p.Tyr1358His) rs377054979
NM_001271208.2(NEB):c.4102C>T (p.Arg1368Cys)
NM_001271208.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217
NM_001271208.2(NEB):c.4149C>T (p.Thr1383=) rs148794372
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.4413G>A (p.Lys1471=)
NM_001271208.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613
NM_001271208.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521
NM_001271208.2(NEB):c.4471G>A (p.Val1491Met) rs7426114
NM_001271208.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621
NM_001271208.2(NEB):c.475C>T (p.His159Tyr) rs776746330
NM_001271208.2(NEB):c.47A>T (p.Glu16Val) rs748679499
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5029G>A (p.Asp1677Asn)
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.5032-15T>C rs201180226
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946
NM_001271208.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001271208.2(NEB):c.5301G>A (p.Pro1767=) rs150496369
NM_001271208.2(NEB):c.5332A>T (p.Thr1778Ser)
NM_001271208.2(NEB):c.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.5395A>C (p.Arg1799=)
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
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.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.2(NEB):c.5565C>A (p.Asp1855Glu)
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.5623A>G (p.Met1875Val) rs201940342
NM_001271208.2(NEB):c.5656G>A (p.Glu1886Lys) rs746761562
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.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5763+15C>T rs148455519
NM_001271208.2(NEB):c.5763+4C>T rs78916288
NM_001271208.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727
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.5853C>A (p.Ala1951=) rs757546480
NM_001271208.2(NEB):c.5854A>G (p.Met1952Val) rs200649387
NM_001271208.2(NEB):c.585C>G (p.Ala195=) rs374538366
NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_001271208.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6067A>G (p.Met2023Val) rs779481792
NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.612+15C>T rs112288851
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6135T>C (p.Asp2045=) rs886042654
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6184-14T>A rs10173335
NM_001271208.2(NEB):c.6227T>A (p.Val2076Asp)
NM_001271208.2(NEB):c.6369G>A (p.Thr2123=) rs540542570
NM_001271208.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286
NM_001271208.2(NEB):c.642C>A (p.Asp214Glu) rs373133009
NM_001271208.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600
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.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.7016A>G (p.Lys2339Arg)
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
NM_001271208.2(NEB):c.7227+13T>G rs373818296
NM_001271208.2(NEB):c.7228-5C>T rs773213959
NM_001271208.2(NEB):c.7233A>G (p.Leu2411=)
NM_001271208.2(NEB):c.7246C>G (p.Leu2416Val)
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
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.7441A>G (p.Arg2481Gly) rs149430473
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7537-3C>A rs886054946
NM_001271208.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929
NM_001271208.2(NEB):c.7623C>T (p.Ala2541=) rs371570995
NM_001271208.2(NEB):c.7645-14T>C rs886054945
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.7758C>T (p.Asp2586=)
NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
NM_001271208.2(NEB):c.7865T>G (p.Val2622Gly) rs563691738
NM_001271208.2(NEB):c.7875G>A (p.Lys2625=) rs577894144
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.7956+4A>G rs886054944
NM_001271208.2(NEB):c.8035A>G (p.Lys2679Glu)
NM_001271208.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707
NM_001271208.2(NEB):c.8101A>G (p.Ser2701Gly)
NM_001271208.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
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.8335A>T (p.Ile2779Phe) rs114853127
NM_001271208.2(NEB):c.8356A>G (p.Arg2786Gly) rs201747395
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8490G>A (p.Arg2830=) rs368217121
NM_001271208.2(NEB):c.8499G>A (p.Lys2833=) rs183998406
NM_001271208.2(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_001271208.2(NEB):c.863A>G (p.Lys288Arg) rs202035863
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.8660G>A (p.Arg2887Gln)
NM_001271208.2(NEB):c.8682C>A (p.Ser2894Arg) rs373799650
NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_001271208.2(NEB):c.8753T>G (p.Val2918Gly)
NM_001271208.2(NEB):c.8796C>A (p.Ile2932=) rs886054943
NM_001271208.2(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001271208.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716
NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_001271208.2(NEB):c.934T>C (p.Tyr312His)
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702
NM_001271208.2(NEB):c.9832-7A>T rs778183317
NM_001271208.2(NEB):c.9848G>A (p.Gly3283Asp)
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119

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