ClinVar Miner

List of variants in gene NEB, RIF1 studied for Nemaline myopathy 2

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Gene type:
ClinVar version:
Total variants: 510
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HGVS dbSNP
NC_000002.12:g.(?_151496266)_(151497728_?)del
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
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.21418-9C>T rs1576549807
NM_001271208.2(NEB):c.21423del (p.Lys7141fs)
NM_001271208.2(NEB):c.21426T>C (p.Tyr7142=) rs372326115
NM_001271208.2(NEB):c.21437C>G (p.Ala7146Gly)
NM_001271208.2(NEB):c.21442A>G (p.Met7148Val) rs750039342
NM_001271208.2(NEB):c.21476G>A (p.Arg7159His) rs201094791
NM_001271208.2(NEB):c.21487T>C (p.Leu7163=) rs114218081
NM_001271208.2(NEB):c.21511A>T (p.Met7171Leu) rs886038447
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.21531C>A (p.Tyr7177Ter)
NM_001271208.2(NEB):c.21574G>T (p.Val7192Leu) rs1576490497
NM_001271208.2(NEB):c.21595C>A (p.Arg7199Ser)
NM_001271208.2(NEB):c.21596G>A (p.Arg7199His) rs16830171
NM_001271208.2(NEB):c.21596G>C (p.Arg7199Pro)
NM_001271208.2(NEB):c.21609del (p.Asn7204fs) rs934955715
NM_001271208.2(NEB):c.21618A>C (p.Gln7206His) rs542149432
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
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.21648_21650CAA[1] (p.Asn7217del) rs758160111
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21669C>A (p.Gly7223=) rs775887037
NM_001271208.2(NEB):c.21684C>T (p.His7228=) rs372877088
NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)
NM_001271208.2(NEB):c.21690A>G (p.Thr7230=) rs4664475
NM_001271208.2(NEB):c.21693C>T (p.Pro7231=)
NM_001271208.2(NEB):c.21709C>T (p.Arg7237Cys)
NM_001271208.2(NEB):c.21735+1G>A rs1446706909
NM_001271208.2(NEB):c.21736-7C>T rs374513817
NM_001271208.2(NEB):c.21736-8T>C rs1394610862
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
NM_001271208.2(NEB):c.21778A>T (p.Thr7260Ser) rs187977960
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21794C>T (p.Ala7265Val) rs368315910
NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs) rs1559580467
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21840T>C (p.Asn7280=) rs568248647
NM_001271208.2(NEB):c.21841-13_21848del rs767772838
NM_001271208.2(NEB):c.21841-2A>G rs1389892619
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.2(NEB):c.21862G>A (p.Glu7288Lys) rs745791097
NM_001271208.2(NEB):c.21866C>A (p.Ala7289Asp)
NM_001271208.2(NEB):c.21870C>T (p.Asn7290=) rs180903156
NM_001271208.2(NEB):c.21884A>G (p.Lys7295Arg)
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21943G>A (p.Asp7315Asn) rs200945025
NM_001271208.2(NEB):c.21945+13A>C rs75515097
NM_001271208.2(NEB):c.21946-6T>A rs767466501
NM_001271208.2(NEB):c.21961G>A (p.Asp7321Asn) rs35625617
NM_001271208.2(NEB):c.21964C>G (p.Arg7322Gly) rs376072545
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.21968A>G (p.Glu7323Gly) rs747282707
NM_001271208.2(NEB):c.21980G>A (p.Gly7327Asp)
NM_001271208.2(NEB):c.22011C>T (p.Asn7337=) rs757845188
NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr) rs1289511955
NM_001271208.2(NEB):c.22051-2del rs1553647715
NM_001271208.2(NEB):c.22068A>G (p.Lys7356=) rs61730765
NM_001271208.2(NEB):c.22074C>T (p.Val7358=) rs554809115
NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln) rs756646859
NM_001271208.2(NEB):c.22077G>A (p.Lys7359=) rs267598918
NM_001271208.2(NEB):c.22078G>A (p.Glu7360Lys) rs747662624
NM_001271208.2(NEB):c.22081A>C (p.Arg7361=) rs780790042
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.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.22112C>T (p.Pro7371Leu) rs1559547106
NM_001271208.2(NEB):c.22128G>A (p.Ala7376=) rs533246582
NM_001271208.2(NEB):c.22142A>T (p.Asn7381Ile)
NM_001271208.2(NEB):c.22147G>A (p.Val7383Met) rs200918570
NM_001271208.2(NEB):c.22155+13C>T rs113403461
NM_001271208.2(NEB):c.22192C>T (p.Gln7398Ter) rs1553646540
NM_001271208.2(NEB):c.22196G>A (p.Gly7399Asp)
NM_001271208.2(NEB):c.22204_22206ACA[1] (p.Thr7403del) rs1553646403
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.22219A>C (p.Thr7407Pro)
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22229C>T (p.Thr7410Ile) rs1195608964
NM_001271208.2(NEB):c.22236C>G (p.His7412Gln)
NM_001271208.2(NEB):c.22237G>A (p.Val7413Ile)
NM_001271208.2(NEB):c.22243del (p.Glu7415fs) rs1235589246
NM_001271208.2(NEB):c.22249A>C (p.Thr7417Pro) rs761232641
NM_001271208.2(NEB):c.22257T>C (p.His7419=) rs771582884
NM_001271208.2(NEB):c.22267-5_22267-2del rs1553644243
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter) rs748922882
NM_001271208.2(NEB):c.22278A>T (p.Lys7426Asn)
NM_001271208.2(NEB):c.22288G>A (p.Val7430Ile) rs1396168176
NM_001271208.2(NEB):c.22292A>G (p.Lys7431Arg) rs201548700
NM_001271208.2(NEB):c.22299A>G (p.Lys7433=) rs1232660353
NM_001271208.2(NEB):c.22338G>C (p.Glu7446Asp) rs1576243073
NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) rs1559534672
NM_001271208.2(NEB):c.22369C>A (p.Gln7457Lys) rs369642754
NM_001271208.2(NEB):c.22377+2dup rs773465809
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-10C>T rs781520817
NM_001271208.2(NEB):c.22378-1G>A rs1553642332
NM_001271208.2(NEB):c.22378-36CT[5] rs751597547
NM_001271208.2(NEB):c.22378-5T>C rs886054929
NM_001271208.2(NEB):c.22378-6_22378-2dup rs758609054
NM_001271208.2(NEB):c.22378G>T (p.Val7460Phe)
NM_001271208.2(NEB):c.22417_22420dup (p.Thr7474fs)
NM_001271208.2(NEB):c.22432C>T (p.Arg7478Ter) rs1576203853
NM_001271208.2(NEB):c.22433G>C (p.Arg7478Pro)
NM_001271208.2(NEB):c.22444_22446AAG[1] (p.Lys7483del) rs1553641943
NM_001271208.2(NEB):c.22454C>T (p.Thr7485Ile)
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.22479+13_22479+33dup rs1553641788
NM_001271208.2(NEB):c.22479+6G>A rs749050869
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.22517A>G (p.His7506Arg) rs1553641474
NM_001271208.2(NEB):c.22523dup (p.Leu7508fs)
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.22534G>A (p.Gly7512Ser) rs764674361
NM_001271208.2(NEB):c.22537C>T (p.Arg7513Cys) rs202050860
NM_001271208.2(NEB):c.22538G>A (p.Arg7513His) rs767207985
NM_001271208.2(NEB):c.22544A>C (p.Asp7515Ala) rs886054928
NM_001271208.2(NEB):c.22546A>G (p.Ile7516Val) rs374581669
NM_001271208.2(NEB):c.22584+1G>C rs1057515575
NM_001271208.2(NEB):c.22584+1del rs1488066635
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.22607A>G (p.Asp7536Gly) rs771620082
NM_001271208.2(NEB):c.22609A>G (p.Lys7537Glu)
NM_001271208.2(NEB):c.22616del (p.Lys7539fs)
NM_001271208.2(NEB):c.22640C>T (p.Pro7547Leu)
NM_001271208.2(NEB):c.22653G>A (p.Gln7551=) rs200776925
NM_001271208.2(NEB):c.22660A>G (p.Lys7554Glu)
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-1G>C rs757157808
NM_001271208.2(NEB):c.22696-3C>T
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.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22747_22749del (p.Lys7583del) rs1553629857
NM_001271208.2(NEB):c.22750G>T (p.Glu7584Ter)
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr) rs746454129
NM_001271208.2(NEB):c.22781C>T (p.Thr7594Ile)
NM_001271208.2(NEB):c.22782A>T (p.Thr7594=) rs778662915
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.2(NEB):c.22801-10T>C rs1212927796
NM_001271208.2(NEB):c.22801-1G>A rs745511810
NM_001271208.2(NEB):c.22810_22812AAG[2] (p.Lys7606del) rs760161843
NM_001271208.2(NEB):c.22853C>G (p.Pro7618Arg) rs1575897069
NM_001271208.2(NEB):c.22855G>A (p.Asp7619Asn)
NM_001271208.2(NEB):c.22879A>C (p.Lys7627Gln)
NM_001271208.2(NEB):c.22881dup (p.Glu7628fs)
NM_001271208.2(NEB):c.22897C>T (p.Gln7633Ter) rs752267876
NM_001271208.2(NEB):c.22905+1G>A rs1302373559
NM_001271208.2(NEB):c.22905+2T>G rs1553627466
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22906-7T>C
NM_001271208.2(NEB):c.22936C>T (p.Arg7646Ter)
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.22995G>A (p.Gln7665=) rs765598242
NM_001271208.2(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.2(NEB):c.23010+2T>C rs1553623367
NM_001271208.2(NEB):c.23010+2dup rs1553623381
NM_001271208.2(NEB):c.23010+7C>T rs1426040506
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23011-6_23011-2del rs1014710501
NM_001271208.2(NEB):c.23075C>T (p.Thr7692Met) rs770889470
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr) rs373852098
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.23122-3T>C rs111314898
NM_001271208.2(NEB):c.23129A>T (p.Tyr7710Phe)
NM_001271208.2(NEB):c.23136A>G (p.Lys7712=) rs968522988
NM_001271208.2(NEB):c.23153T>C (p.Ile7718Thr)
NM_001271208.2(NEB):c.23155C>T (p.Arg7719Cys)
NM_001271208.2(NEB):c.23156G>A (p.Arg7719His)
NM_001271208.2(NEB):c.23159G>A (p.Gly7720Glu)
NM_001271208.2(NEB):c.23160G>A (p.Gly7720=) rs563896790
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23232+4G>A rs764457781
NM_001271208.2(NEB):c.23233-18del rs1553616477
NM_001271208.2(NEB):c.23233-5T>C rs1349957816
NM_001271208.2(NEB):c.23245C>T (p.Arg7749Ter) rs1575714905
NM_001271208.2(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.2(NEB):c.23254G>C (p.Glu7752Gln) rs766321668
NM_001271208.2(NEB):c.23273G>A (p.Arg7758Lys) rs947053462
NM_001271208.2(NEB):c.23294A>G (p.Asn7765Ser)
NM_001271208.2(NEB):c.23303C>T (p.Pro7768Leu)
NM_001271208.2(NEB):c.23338G>T (p.Ala7780Ser)
NM_001271208.2(NEB):c.23346+16C>T rs75221580
NM_001271208.2(NEB):c.23346+2T>A rs1553615846
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.23384A>G (p.Asn7795Ser) rs1232744915
NM_001271208.2(NEB):c.23420A>G (p.His7807Arg)
NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del) rs1553614214
NM_001271208.2(NEB):c.23443T>A (p.Ser7815Thr) rs1553614160
NM_001271208.2(NEB):c.23446A>G (p.Ser7816Gly)
NM_001271208.2(NEB):c.23451+5G>A
NM_001271208.2(NEB):c.23455A>G (p.Lys7819Glu)
NM_001271208.2(NEB):c.23456dup (p.Tyr7820fs) rs1559360386
NM_001271208.2(NEB):c.23464G>A (p.Glu7822Lys)
NM_001271208.2(NEB):c.23482A>C (p.Met7828Leu) rs199957886
NM_001271208.2(NEB):c.23483T>C (p.Met7828Thr) rs536677256
NM_001271208.2(NEB):c.23483_23485del (p.Met7828_Ser7829delinsThr) rs1553603652
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23486C>T (p.Ser7829Leu) rs41270201
NM_001271208.2(NEB):c.23487G>A (p.Ser7829=) rs770713773
NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) rs1057515574
NM_001271208.2(NEB):c.23510C>A (p.Thr7837Asn)
NM_001271208.2(NEB):c.23520dup (p.Gln7841fs) rs1553603438
NM_001271208.2(NEB):c.23521C>G (p.Gln7841Glu)
NM_001271208.2(NEB):c.23522_23523AG[2] (p.Arg7842fs) rs1553603400
NM_001271208.2(NEB):c.23523G>T (p.Gln7841His) rs765789028
NM_001271208.2(NEB):c.23530C>T (p.Arg7844Trp) rs762220487
NM_001271208.2(NEB):c.23556+1G>C rs1011425121
NM_001271208.2(NEB):c.23556+1G>T rs1011425121
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) rs34368668
NM_001271208.2(NEB):c.23602_23604GTT[1] (p.Val7869del) rs1553601408
NM_001271208.2(NEB):c.23615C>T (p.Thr7872Met) rs370108917
NM_001271208.2(NEB):c.23616G>A (p.Thr7872=) rs35808744
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.23630G>A (p.Arg7877His)
NM_001271208.2(NEB):c.23660C>T (p.Ser7887Leu) rs200454939
NM_001271208.2(NEB):c.23662-3C>G rs374499643
NM_001271208.2(NEB):c.23700C>T (p.Ile7900=) rs370825760
NM_001271208.2(NEB):c.23701G>A (p.Gly7901Arg) rs1480807112
NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.2(NEB):c.23714A>T (p.Glu7905Val) rs1454960791
NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter) rs537560378
NM_001271208.2(NEB):c.23742C>G (p.Asp7914Glu)
NM_001271208.2(NEB):c.23743_23745del (p.His7915del) rs1553598770
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
NM_001271208.2(NEB):c.23754+10_23754+11del rs772001300
NM_001271208.2(NEB):c.23755-7_23755-6delinsAT rs1575422447
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.23815C>T (p.Arg7939Cys)
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.23847+8C>T rs1575419282
NM_001271208.2(NEB):c.23847+9C>T rs762973833
NM_001271208.2(NEB):c.23848-1G>C rs797045098
NM_001271208.2(NEB):c.23859_23864dup (p.Lys7953_Glu7954dup)
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.23870G>C (p.Gly7957Ala)
NM_001271208.2(NEB):c.23875G>A (p.Gly7959Ser) rs369602540
NM_001271208.2(NEB):c.23878A>G (p.Ile7960Val)
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.23894C>A (p.Thr7965Asn)
NM_001271208.2(NEB):c.23903T>C (p.Ile7968Thr)
NM_001271208.2(NEB):c.23908A>G (p.Arg7970Gly)
NM_001271208.2(NEB):c.23910A>G (p.Arg7970=) rs1481356421
NM_001271208.2(NEB):c.23917C>T (p.Arg7973Cys)
NM_001271208.2(NEB):c.23934T>C (p.Phe7978=) rs1575331983
NM_001271208.2(NEB):c.23939C>A (p.Ser7980Ter) rs755970391
NM_001271208.2(NEB):c.23940+1G>A rs781120931
NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp) rs200559481
NM_001271208.2(NEB):c.23952del (p.Glu7985fs) rs1575305566
NM_001271208.2(NEB):c.23953_23955del (p.Glu7985del) rs1553576655
NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs) rs1559296376
NM_001271208.2(NEB):c.23977_23979dup (p.Thr7993dup) rs764993333
NM_001271208.2(NEB):c.23998G>C (p.Glu8000Gln)
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24015_24018dup (p.Glu8007fs) rs761694639
NM_001271208.2(NEB):c.24031T>A (p.Ser8011Thr)
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24033+4T>C rs768465696
NM_001271208.2(NEB):c.24034-1_24035dup rs1427250696
NM_001271208.2(NEB):c.24034-2A>C rs1553569122
NM_001271208.2(NEB):c.24034-7CA[2] rs1217738625
NM_001271208.2(NEB):c.24042C>G (p.Tyr8014Ter) rs779173742
NM_001271208.2(NEB):c.24062G>C (p.Gly8021Ala)
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24072dup (p.Pro8025fs)
NM_001271208.2(NEB):c.24091G>A (p.Glu8031Lys) rs1202510810
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24104_24107TCAA[1] (p.Asn8036fs) rs1553568447
NM_001271208.2(NEB):c.24117_24119dup (p.Phe8040dup) rs1553568381
NM_001271208.2(NEB):c.24119_24120dup (p.Ser8041fs) rs1553568357
NM_001271208.2(NEB):c.24125C>T (p.Ser8042Leu) rs763365852
NM_001271208.2(NEB):c.24126+8G>A rs1361035933
NM_001271208.2(NEB):c.24127-1G>A rs1553561697
NM_001271208.2(NEB):c.24127-1G>C rs1553561697
NM_001271208.2(NEB):c.24127-1_24134del rs1423137705
NM_001271208.2(NEB):c.24128_24131dup (p.Leu8044fs) rs1553561665
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24144del (p.Asn8048fs) rs1553561525
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.2(NEB):c.24149G>A (p.Gly8050Glu)
NM_001271208.2(NEB):c.24161C>T (p.Pro8054Leu) rs189655274
NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) rs144634228
NM_001271208.2(NEB):c.24187A>G (p.Arg8063Gly)
NM_001271208.2(NEB):c.24200A>G (p.Asn8067Ser) rs946188918
NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys) rs770023115
NM_001271208.2(NEB):c.24201_24204dup (p.Glu8069fs) rs1553561211
NM_001271208.2(NEB):c.24213T>C (p.Phe8071=) rs748169663
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24219G>T (p.Ser8073=)
NM_001271208.2(NEB):c.24220-151C>A rs1575076895
NM_001271208.2(NEB):c.24220G>T (p.Val8074Leu)
NM_001271208.2(NEB):c.24232_24235dup (p.Asn8079fs) rs1553556275
NM_001271208.2(NEB):c.24248del (p.Gly8083fs) rs1553556154
NM_001271208.2(NEB):c.24263T>C (p.Ile8088Thr)
NM_001271208.2(NEB):c.24276G>T (p.Met8092Ile) rs758996758
NM_001271208.2(NEB):c.24277C>T (p.Gln8093Ter) rs1323364980
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs) rs1266535163
NM_001271208.2(NEB):c.24282A>G (p.Arg8094=) rs1030563077
NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs) rs1553555882
NM_001271208.2(NEB):c.24311C>A (p.Ser8104Ter) rs1037388276
NM_001271208.2(NEB):c.24312+2T>C rs1553555768
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24313-10T>C rs1061322
NM_001271208.2(NEB):c.24313-7C>T rs113048349
NM_001271208.2(NEB):c.24313_24317dup (p.Tyr8107fs) rs1553552413
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24315_24317dup (p.Leu8106dup) rs781667543
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.24317T>A (p.Leu8106Ter) rs756726488
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24343dup (p.Thr8115fs) rs1575024425
NM_001271208.2(NEB):c.24367_24369dup (p.Met8123dup) rs769252768
NM_001271208.2(NEB):c.24369G>A (p.Met8123Ile) rs144709880
NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) rs747564597
NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs) rs747564597
NM_001271208.2(NEB):c.24380A>G (p.Lys8127Arg)
NM_001271208.2(NEB):c.24380_24383dup (p.His8128fs) rs1553551748
NM_001271208.2(NEB):c.24382_24383CA[4] (p.Asn8129fs) rs1553551650
NM_001271208.2(NEB):c.24398T>C (p.Ile8133Thr) rs372228043
NM_001271208.2(NEB):c.24398_24400dup (p.Ile8133dup) rs780724946
NM_001271208.2(NEB):c.24404C>T (p.Ser8135Leu) rs759261311
NM_001271208.2(NEB):c.24405+1G>A rs1366853918
NM_001271208.2(NEB):c.24405G>C (p.Ser8135=) rs541126160
NM_001271208.2(NEB):c.24406-7C>T rs755582434
NM_001271208.2(NEB):c.24406_24410dup (p.Tyr8138fs) rs1553548771
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup) rs1344099907
NM_001271208.2(NEB):c.24409_24410dup (p.Leu8137fs) rs1559207733
NM_001271208.2(NEB):c.24410T>A (p.Leu8137Ter) rs1553548752
NM_001271208.2(NEB):c.24411A>C (p.Leu8137Phe) rs1217235799
NM_001271208.2(NEB):c.24414C>A (p.Tyr8138Ter) rs1332061304
NM_001271208.2(NEB):c.24434_24437dup (p.Pro8147fs) rs1574981296
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24450C>T (p.Val8150=) rs922674535
NM_001271208.2(NEB):c.24455C>T (p.Pro8152Leu) rs541150975
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs) rs1257495033
NM_001271208.2(NEB):c.24460_24462dup (p.Met8154dup) rs942843328
NM_001271208.2(NEB):c.24463G>A (p.Glu8155Lys)
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24473_24476dup (p.His8159fs) rs1553548207
NM_001271208.2(NEB):c.24480_24482dup (p.Gln8161_Glu8162insHis) rs1372551649
NM_001271208.2(NEB):c.24482_24488del (p.Gln8161fs) rs1553548018
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp) rs960735572
NM_001271208.2(NEB):c.24491_24493dup (p.Ile8164dup) rs767474018
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24498G>A (p.Ser8166=)
NM_001271208.2(NEB):c.24499-1G>A rs1421095081
NM_001271208.2(NEB):c.24500_24503dup (p.Leu8168fs) rs762133567
NM_001271208.2(NEB):c.24502_24503dup (p.Leu8168fs)
NM_001271208.2(NEB):c.24507C>G (p.Tyr8169Ter)
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.24558G>A (p.Glu8186=) rs372540293
NM_001271208.2(NEB):c.24558_24559delinsAA (p.Glu8186_Arg8187=) rs1574938607
NM_001271208.2(NEB):c.24559C>G (p.Arg8187Gly)
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24577_24579del (p.Glu8193del) rs1553544463
NM_001271208.2(NEB):c.24582_24585dup (p.Ser8196delinsTyrTer) rs797044606
NM_001271208.2(NEB):c.24590C>T (p.Ser8197Leu)
NM_001271208.2(NEB):c.24591+10G>A rs755064162
NM_001271208.2(NEB):c.24591+9C>A rs763870394
NM_001271208.2(NEB):c.24613G>A (p.Gly8205Arg) rs1553537770
NM_001271208.2(NEB):c.24614G>A (p.Gly8205Glu) rs398124169
NM_001271208.2(NEB):c.24624C>T (p.Thr8208=) rs748978197
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.24650_24651AG[2] (p.Arg8218fs) rs755863625
NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs) rs1553537512
NM_001271208.2(NEB):c.24662G>A (p.Arg8221His) rs759962661
NM_001271208.2(NEB):c.24675C>T (p.Asn8225=) rs201566336
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24684G>C (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24685-1G>C rs1574772311
NM_001271208.2(NEB):c.24685-2A>G rs113290650
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.24741G>A (p.Met8247Ile)
NM_001271208.2(NEB):c.24742G>T (p.Glu8248Ter) rs1553536267
NM_001271208.2(NEB):c.24744_24745del (p.Arg8249fs) rs1357811155
NM_001271208.2(NEB):c.24745A>G (p.Arg8249Gly) rs772803200
NM_001271208.2(NEB):c.24750G>A (p.Val8250=) rs769610035
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His) rs201291446
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24776C>T (p.Ser8259Leu) rs746031384
NM_001271208.2(NEB):c.24778-1G>A rs1574741105
NM_001271208.2(NEB):c.24778-2A>C rs112687345
NM_001271208.2(NEB):c.24812C>T (p.Pro8271Leu) rs571935637
NM_001271208.2(NEB):c.24815C>T (p.Thr8272Ile) rs369083039
NM_001271208.2(NEB):c.24815_24836del (p.Thr8272fs) rs761067911
NM_001271208.2(NEB):c.24834G>A (p.Met8278Ile)
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) rs776059611
NM_001271208.2(NEB):c.24838A>G (p.Arg8280Gly)
NM_001271208.2(NEB):c.24843T>C (p.Ala8281=) rs1057524338
NM_001271208.2(NEB):c.24847C>T (p.Arg8283Cys) rs748561855
NM_001271208.2(NEB):c.24848G>A (p.Arg8283His)
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24870+8C>T rs374935839
NM_001271208.2(NEB):c.24871-9_24872del rs1553530144
NM_001271208.2(NEB):c.24917C>T (p.Ala8306Val) rs749977606
NM_001271208.2(NEB):c.24925T>C (p.Leu8309=) rs372203426
NM_001271208.2(NEB):c.24946C>T (p.Arg8316Trp)
NM_001271208.2(NEB):c.24947G>A (p.Arg8316Gln)
NM_001271208.2(NEB):c.24964C>T (p.Arg8322Trp)
NM_001271208.2(NEB):c.24978G>A (p.Thr8326=) rs779321695
NM_001271208.2(NEB):c.24979-8C>T rs200902944
NM_001271208.2(NEB):c.24988_24990del (p.His8330del) rs1553527955
NM_001271208.2(NEB):c.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.2(NEB):c.25012G>C (p.Gly8338Arg)
NM_001271208.2(NEB):c.25014T>C (p.Gly8338=) rs754365974
NM_001271208.2(NEB):c.25024C>A (p.Pro8342Thr) rs886054927
NM_001271208.2(NEB):c.25054G>A (p.Val8352Ile)
NM_001271208.2(NEB):c.25059_25061GAA[1] (p.Lys8354del) rs755822172
NM_001271208.2(NEB):c.25093C>T (p.Arg8365Ter) rs767709270
NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) rs1553526832
NM_001271208.2(NEB):c.25110A>G (p.Lys8370=) rs996538018
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala) rs1574651626
NM_001271208.2(NEB):c.25115T>G (p.Val8372Gly)
NM_001271208.2(NEB):c.25117delinsTA (p.Glu8373Ter) rs1553526619
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.25160C>T (p.Thr8387Ile)
NM_001271208.2(NEB):c.25162+1G>A rs1191429915
NM_001271208.2(NEB):c.25162+1G>C rs1191429915
NM_001271208.2(NEB):c.25163-2A>C rs866309952
NM_001271208.2(NEB):c.25169G>A (p.Arg8390His) rs778972474
NM_001271208.2(NEB):c.25178G>A (p.Arg8393His) rs796797375
NM_001271208.2(NEB):c.25194G>A (p.Ser8398=) rs766453942
NM_001271208.2(NEB):c.25210C>G (p.Pro8404Ala)
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.25235G>A (p.Arg8412Gln) rs369174368
NM_001271208.2(NEB):c.25241T>G (p.Leu8414Ter) rs760200697
NM_001271208.2(NEB):c.25255+12G>A rs4414676
NM_001271208.2(NEB):c.25255+3G>A
NM_001271208.2(NEB):c.25256-1G>T rs1553520609
NM_001271208.2(NEB):c.25266G>A (p.Gln8422=) rs376897146
NM_001271208.2(NEB):c.25267C>T (p.Arg8423Cys) rs371600800
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.25277G>A (p.Arg8426Gln) rs749034995
NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter) rs121913662
NM_001271208.2(NEB):c.25287_25292del (p.Arg8430_Ser8431del) rs1553520388
NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.2(NEB):c.25289G>A (p.Arg8430Gln) rs779983347
NM_001271208.2(NEB):c.25308_25309inv (p.Ile8437Val)
NM_001271208.2(NEB):c.25309A>G (p.Ile8437Val) rs1061305
NM_001271208.2(NEB):c.25313G>A (p.Ser8438Asn)
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.25324G>A (p.Glu8442Lys)
NM_001271208.2(NEB):c.25344A>G (p.Glu8448=) rs576696191
NM_001271208.2(NEB):c.25361T>C (p.Leu8454Pro) rs370819880
NM_001271208.2(NEB):c.25363T>C (p.Ser8455Pro) rs886054925
NM_001271208.2(NEB):c.25364C>A (p.Ser8455Ter)
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.25402+1G>A rs113525641
NM_001271208.2(NEB):c.25402+2del rs1553519860
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25445C>A (p.Ser8482Ter) rs1553519124
NM_001271208.2(NEB):c.25450_25452del (p.Ser8484del) rs1553519071
NM_001271208.2(NEB):c.25464A>C (p.Gln8488His) rs377748897
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.25500T>G (p.Ser8500=) rs13031275
NM_001271208.2(NEB):c.25509+1_25509+2insATGGA rs1357452519
NM_001271208.2(NEB):c.25509+2T>A rs1553518813
NM_001271208.2(NEB):c.25510-1G>C rs1553508368
NM_001271208.2(NEB):c.25510-7C>T rs372113031
NM_001271208.2(NEB):c.25519C>T (p.Arg8507Cys) rs542706227
NM_001271208.2(NEB):c.25520G>A (p.Arg8507His)
NM_001271208.2(NEB):c.25534_25535insG (p.Tyr8512Ter) rs1242654062
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.25575A>G (p.Gly8525=) rs778502509
NM_001271208.2(NEB):c.25603G>A (p.Asp8535Asn) rs1574251962
NM_001271208.2(NEB):c.25606G>T (p.Glu8536Ter) rs1304300842
NM_001271208.2(NEB):c.25613G>A (p.Trp8538Ter) rs1206080778
NM_001271208.2(NEB):c.25629G>A (p.Val8543=) rs1574250751
NM_001271208.2(NEB):c.25639G>A (p.Gly8547Ser)
NM_001271208.2(NEB):c.25639_25640insTATGCACTGTGCAGAGGACTG (p.Gly8547_Arg8548insValCysThrValGlnArgThr) rs1211056097
NM_001271208.2(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.2(NEB):c.25648G>T (p.Gly8550Ter) rs776932788
NM_001271208.2(NEB):c.25649del (p.Gly8550fs) rs1205824305
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr) rs775823432
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
NM_001271208.2(NEB):c.25678A>G (p.Ile8560Val)
NM_004543.5(NEB):c.18826-1350_18826-1348dup rs1553552449

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