ClinVar Miner

List of variants reported as pathogenic for childhood-onset nemaline myopathy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 921
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001100.4(ACTA1):c.436del (p.Ala146fs) rs1395648272 0.00005
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.21504del (p.Asn7169fs) rs934955715 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs) rs753923758 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter) rs758277406 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro) rs121909519 0.00001
NM_001100.4(ACTA1):c.616+1G>A rs111812550 0.00001
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001164508.2(NEB):c.10899G>A (p.Trp3633Ter) rs780343350 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter) rs377182240 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1674+1G>T rs750585238 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.20503C>T (p.Arg6835Ter) rs370098540 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro) rs761232641 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22591-1G>C rs757157808 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter) rs1323364980 0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs) rs1553552413 0.00001
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter) rs756726488 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs) rs1559207733 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter) rs758327681 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter) rs1433028646 0.00001
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter) rs778104284 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.2943+1G>A rs113091511 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.5763+5G>A rs776167256 0.00001
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter) rs1032240985 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.928-1G>A rs1162553327 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter) rs779140230 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
NC_000002.11:g.(?_152380815)_(152384109_?)del
NC_000002.11:g.(?_152408232)_(152432888_?)del
NC_000002.11:g.(?_152417187)_(152418727_?)del
NC_000002.11:g.(?_152466303)_(152563531_?)del
NC_000002.11:g.(?_152466303)_(152955525_?)del
NC_000002.11:g.(?_152470770)_(152554182_?)del
NC_000002.11:g.(?_152475955)_(152476286_?)del
NC_000002.11:g.(?_152482028)_(152566297_?)del
NC_000002.11:g.(?_152482028)_(152567072_?)del
NC_000002.11:g.(?_152499078)_(152500653_?)del
NC_000002.11:g.(?_152506680)_(152510623_?)del
NC_000002.11:g.(?_152524298)_(152525665_?)del
NC_000002.11:g.(?_152579876)_(152589670_?)del
NC_000002.12:g.(?_151485750)_(151957616_?)del
NC_000002.12:g.(?_151614266)_(151697658_?)del
NC_000002.12:g.(?_151645758)_(151648259_?)del
NC_000002.12:g.(?_151646110)_(151646254_?)del
NC_000002.12:g.(?_151646120)_(151646244_?)del
NM_001100.4(ACTA1):c.1006del (p.Glu336fs)
NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala) rs121909528
NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu) rs2102735031
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln) rs1553255288
NM_001100.4(ACTA1):c.113G>C (p.Gly38Ala)
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr) rs2102736554
NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg) rs1659984269
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.4(ACTA1):c.137T>C (p.Met46Thr) rs1057521120
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.4(ACTA1):c.143G>T (p.Gly48Val) rs367543049
NM_001100.4(ACTA1):c.145A>G (p.Met49Val)
NM_001100.4(ACTA1):c.146T>G (p.Met49Arg) rs1553255506
NM_001100.4(ACTA1):c.155_158del (p.Lys52fs) rs1659979809
NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg) rs2102736416
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter) rs2102736408
NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) rs1571893885
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001100.4(ACTA1):c.217dup (p.Ile73fs) rs1571893878
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.275_277del (p.Phe92del) rs1558082053
NM_001100.4(ACTA1):c.280A>T (p.Asn94Tyr)
NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys) rs772124885
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) rs1571893814
NM_001100.4(ACTA1):c.338A>G (p.Asn113Ser)
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) rs2102736219
NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter) rs1025502215
NM_001100.4(ACTA1):c.39C>A (p.Asp13Glu) rs1659986880
NM_001100.4(ACTA1):c.400A>G (p.Met134Val) rs1659974377
NM_001100.4(ACTA1):c.400del (p.Met134fs) rs2102736194
NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) rs1553255486
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met) rs121909526
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly) rs1435160117
NM_001100.4(ACTA1):c.425T>C (p.Leu142Pro) rs1553255482
NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro) rs1659973563
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) rs371410845
NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser) rs1553255479
NM_001100.4(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del) rs1553255444
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.4(ACTA1):c.489C>A (p.His163Gln) rs1571893383
NM_001100.4(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu) rs121909522
NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser) rs121909521
NM_001100.4(ACTA1):c.509G>A (p.Gly170Asp) rs2102735950
NM_001100.4(ACTA1):c.50G>A (p.Gly17Asp)
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu) rs587780272
NM_001100.4(ACTA1):c.541G>C (p.Asp181His)
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys) rs1064794287
NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly) rs1571893319
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp) rs869312739
NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn) rs1553255432
NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys) rs2102735854
NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn) rs1659986226
NM_001100.4(ACTA1):c.611C>T (p.Thr204Ile)
NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr) rs1057521119
NM_001100.4(ACTA1):c.617C>T (p.Ala206Val) rs1571893145
NM_001100.4(ACTA1):c.620A>T (p.Glu207Val)
NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter) rs201823652
NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) rs1558081664
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr) rs2102735630
NM_001100.4(ACTA1):c.712del (p.Leu238fs) rs1211561143
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.767G>A (p.Arg256His) rs1659954003
NM_001100.4(ACTA1):c.794A>G (p.Gln265Arg)
NM_001100.4(ACTA1):c.7G>T (p.Asp3Tyr) rs121909527
NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser) rs1558081605
NM_001100.4(ACTA1):c.808G>A (p.Gly270Ser)
NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) rs121909525
NM_001100.4(ACTA1):c.808G>T (p.Gly270Cys) rs121909525
NM_001100.4(ACTA1):c.809-2A>T rs1301902450
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001100.4(ACTA1):c.80A>G (p.Asp27Gly) rs1553255534
NM_001100.4(ACTA1):c.821C>A (p.Ala274Glu) rs1553255357
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) rs1553255357
NM_001100.4(ACTA1):c.841T>C (p.Tyr281His) rs2102735278
NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys) rs1659944113
NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys) rs2102735270
NM_001100.4(ACTA1):c.854T>G (p.Met285Arg)
NM_001100.4(ACTA1):c.868G>C (p.Asp290His) rs1553255354
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)
NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn) rs1364598710
NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys) rs387907090
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001164507.2(NEB):c.21375del (p.Arg7126fs)
NM_001164507.2(NEB):c.21406C>T (p.Gln7136Ter) rs2153521056
NM_001164508.2(NEB):c.10026_10027insTG (p.Lys3343Ter)
NM_001164508.2(NEB):c.1006_1018del (p.Asn336fs) rs2099738446
NM_001164508.2(NEB):c.10152C>A (p.Tyr3384Ter)
NM_001164508.2(NEB):c.1019_1020insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGG (p.Val341fs)
NM_001164508.2(NEB):c.10411G>T (p.Glu3471Ter) rs866949431
NM_001164508.2(NEB):c.10433dup (p.Asn3478fs)
NM_001164508.2(NEB):c.10441_10445del (p.Ile3480_Asn3481insTer)
NM_001164508.2(NEB):c.10465C>T (p.Gln3489Ter)
NM_001164508.2(NEB):c.10493del (p.Gly3498fs) rs1574014358
NM_001164508.2(NEB):c.10497del (p.Gly3498_Tyr3499insTer) rs2154027821
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
NM_001164508.2(NEB):c.10598_10610del (p.His3533fs) rs2154022757
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.10687A>T (p.Lys3563Ter) rs1207279110
NM_001164508.2(NEB):c.1068_1096dup (p.Ala366fs)
NM_001164508.2(NEB):c.10798del (p.Leu3600fs)
NM_001164508.2(NEB):c.10809G>A (p.Trp3603Ter) rs10172023
NM_001164508.2(NEB):c.1083T>A (p.Tyr361Ter) rs2149872738
NM_001164508.2(NEB):c.10872+1G>A rs1336053002
NM_001164508.2(NEB):c.10872+1del
NM_001164508.2(NEB):c.10872+2T>A
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
NM_001164508.2(NEB):c.11010dup (p.Phe3671fs) rs2098273867
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs) rs1560500587
NM_001164508.2(NEB):c.11031_11034del (p.Pro3678fs)
NM_001164508.2(NEB):c.11054dup (p.Asn3685fs) rs1560499498
NM_001164508.2(NEB):c.1109dup (p.Gln371fs)
NM_001164508.2(NEB):c.1111C>T (p.Gln371Ter)
NM_001164508.2(NEB):c.11289delT (p.Tyr3764fs)
NM_001164508.2(NEB):c.11408del (p.Glu3803fs)
NM_001164508.2(NEB):c.11412C>G (p.Tyr3804Ter)
NM_001164508.2(NEB):c.11425G>T (p.Glu3809Ter) rs2098126010
NM_001164508.2(NEB):c.11432G>A (p.Trp3811Ter)
NM_001164508.2(NEB):c.11473del (p.Val3825fs) rs2153992255
NM_001164508.2(NEB):c.1152+1G>C rs398124167
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.11533G>T (p.Glu3845Ter) rs755390933
NM_001164508.2(NEB):c.1157del (p.Leu386fs) rs2149368742
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer) rs2153991555
NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001164508.2(NEB):c.11610C>A (p.Tyr3870Ter) rs2098013896
NM_001164508.2(NEB):c.11613del (p.Lys3871fs) rs2098013713
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001164508.2(NEB):c.11666del (p.Glu3889fs)
NM_001164508.2(NEB):c.11731C>T (p.Gln3911Ter)
NM_001164508.2(NEB):c.1173T>A (p.Tyr391Ter)
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.1184_1185dup (p.Ala396fs) rs2149367866
NM_001164508.2(NEB):c.12074del (p.Ser4025fs) rs2153972237
NM_001164508.2(NEB):c.1215dup (p.Lys406fs)
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)
NM_001164508.2(NEB):c.12166del (p.Thr4056fs)
NM_001164508.2(NEB):c.12182del (p.Pro4061fs) rs2097886912
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
NM_001164508.2(NEB):c.12278dup (p.Asp4094fs)
NM_001164508.2(NEB):c.12356G>A (p.Trp4119Ter) rs2153960793
NM_001164508.2(NEB):c.12374G>A (p.Trp4125Ter) rs2153960638
NM_001164508.2(NEB):c.12375del (p.Gly4124_Trp4125insTer)
NM_001164508.2(NEB):c.12394G>T (p.Glu4132Ter) rs2153960539
NM_001164508.2(NEB):c.12402_12403del (p.Asn4134fs) rs2153960473
NM_001164508.2(NEB):c.12433G>T (p.Glu4145Ter) rs2097773972
NM_001164508.2(NEB):c.12438del (p.Arg4146fs) rs2153960110
NM_001164508.2(NEB):c.12441_12442del (p.Leu4147_Tyr4148insTer) rs2153960091
NM_001164508.2(NEB):c.12447del (p.Thr4150fs)
NM_001164508.2(NEB):c.12457G>T (p.Glu4153Ter) rs2097773424
NM_001164508.2(NEB):c.12523C>T (p.Gln4175Ter) rs2153959601
NM_001164508.2(NEB):c.12554G>A (p.Trp4185Ter)
NM_001164508.2(NEB):c.12555del (p.Ala4184_Trp4185insTer) rs2097759896
NM_001164508.2(NEB):c.12558_12568del (p.Asn4186fs)
NM_001164508.2(NEB):c.12572del (p.Asn4191fs)
NM_001164508.2(NEB):c.12600_12601del (p.Glu4200fs)
NM_001164508.2(NEB):c.12639+1G>A rs2097758221
NM_001164508.2(NEB):c.12639+2T>C rs2153957684
NM_001164508.2(NEB):c.12639dup (p.Lys4214Ter)
NM_001164508.2(NEB):c.12648C>G (p.Tyr4216Ter) rs2097713802
NM_001164508.2(NEB):c.12659G>A (p.Trp4220Ter) rs2153953739
NM_001164508.2(NEB):c.12660G>A (p.Trp4220Ter)
NM_001164508.2(NEB):c.12673C>T (p.Gln4225Ter)
NM_001164508.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
NM_001164508.2(NEB):c.12709_12710del (p.Ile4237fs)
NM_001164508.2(NEB):c.12733G>T (p.Glu4245Ter) rs2097711830
NM_001164508.2(NEB):c.12736del (p.Ile4246fs) rs1176407542
NM_001164508.2(NEB):c.12738del (p.Ile4246fs) rs2097711696
NM_001164508.2(NEB):c.12767dup (p.Tyr4256Ter)
NM_001164508.2(NEB):c.12782delinsTAACCTTCCACCAAC (p.Gly4261fs) rs2153940785
NM_001164508.2(NEB):c.12819del (p.Lys4274fs) rs2153940505
NM_001164508.2(NEB):c.12820A>T (p.Lys4274Ter)
NM_001164508.2(NEB):c.12865del (p.Glu4289fs) rs2153940243
NM_001164508.2(NEB):c.12870_12871del (p.Tyr4290_Lys4291delinsTer)
NM_001164508.2(NEB):c.12984T>G (p.Tyr4328Ter)
NM_001164508.2(NEB):c.12991C>T (p.Gln4331Ter) rs1326513178
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter) rs2153939368
NM_001164508.2(NEB):c.13068C>A (p.Tyr4356Ter)
NM_001164508.2(NEB):c.13070_13071del (p.Lys4357fs)
NM_001164508.2(NEB):c.1307dup (p.Ser437fs)
NM_001164508.2(NEB):c.13081G>T (p.Glu4361Ter)
NM_001164508.2(NEB):c.13085G>A (p.Trp4362Ter) rs1449776440
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter) rs1278785558
NM_001164508.2(NEB):c.13103G>A (p.Trp4368Ter) rs2153931339
NM_001164508.2(NEB):c.13123G>T (p.Glu4375Ter)
NM_001164508.2(NEB):c.13131del (p.Met4377fs)
NM_001164508.2(NEB):c.13132A>T (p.Arg4378Ter)
NM_001164508.2(NEB):c.13142del (p.Asn4381fs) rs2153930968
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.13148del (p.Gln4383fs)
NM_001164508.2(NEB):c.13153_13156del (p.Asn4384_Leu4385insTer)
NM_001164508.2(NEB):c.13157T>A (p.Leu4386Ter) rs2153930856
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter) rs2153930733
NM_001164508.2(NEB):c.13186G>T (p.Glu4396Ter)
NM_001164508.2(NEB):c.13220del (p.Pro4407fs) rs2153930361
NM_001164508.2(NEB):c.13268T>A (p.Leu4423Ter)
NM_001164508.2(NEB):c.13283G>A (p.Trp4428Ter)
NM_001164508.2(NEB):c.13285G>T (p.Glu4429Ter) rs2097550591
NM_001164508.2(NEB):c.13292del (p.Glu4431fs)
NM_001164508.2(NEB):c.13323_13324insGCAATGTGAACGTGCTAATGTGAACGTG (p.Pro4442delinsAlaMetTer) rs2153925252
NM_001164508.2(NEB):c.13328del (p.Leu4443fs) rs2153925181
NM_001164508.2(NEB):c.1333del (p.His445fs) rs1576704575
NM_001164508.2(NEB):c.13341_13362del (p.Lys4448fs) rs2153924986
NM_001164508.2(NEB):c.13347del (p.Asn4450fs) rs2153925061
NM_001164508.2(NEB):c.13353_13357delinsTCTGT (p.Gln4453Ter)
NM_001164508.2(NEB):c.13381C>T (p.Gln4461Ter)
NM_001164508.2(NEB):c.13385del (p.Ala4462fs)
NM_001164508.2(NEB):c.13389G>A (p.Trp4463Ter) rs2153924098
NM_001164508.2(NEB):c.13399A>T (p.Lys4467Ter)
NM_001164508.2(NEB):c.133_146del (p.Ser45fs) rs1321522421
NM_001164508.2(NEB):c.13407_13416del (p.Gly4470fs) rs2153923895
NM_001164508.2(NEB):c.13411dup (p.Tyr4471fs)
NM_001164508.2(NEB):c.13413T>A (p.Tyr4471Ter)
NM_001164508.2(NEB):c.13417del (p.Leu4473fs) rs2153923874
NM_001164508.2(NEB):c.13420C>T (p.Arg4474Ter) rs1578869371
NM_001164508.2(NEB):c.13437del (p.Ile4480fs)
NM_001164508.2(NEB):c.13441C>T (p.Gln4481Ter) rs2097548467
NM_001164508.2(NEB):c.13504C>T (p.Gln4502Ter) rs2153903589
NM_001164508.2(NEB):c.13507_13510del (p.Lys4503fs)
NM_001164508.2(NEB):c.13509del (p.Gly4504fs) rs2153903564
NM_001164508.2(NEB):c.13525del (p.Cys4509fs) rs2097453337
NM_001164508.2(NEB):c.13537A>T (p.Lys4513Ter) rs2097452910
NM_001164508.2(NEB):c.13551dup (p.Leu4518fs)
NM_001164508.2(NEB):c.13560G>A (p.Trp4520Ter)
NM_001164508.2(NEB):c.13593del (p.Arg4531fs) rs2153903290
NM_001164508.2(NEB):c.13599C>G (p.Tyr4533Ter) rs2153903239
NM_001164508.2(NEB):c.13631_13634dup (p.Ile4546fs) rs2153903111
NM_001164508.2(NEB):c.13704T>A (p.Tyr4568Ter) rs1553862274
NM_001164508.2(NEB):c.13704T>G (p.Tyr4568Ter)
NM_001164508.2(NEB):c.13713C>A (p.Tyr4571Ter)
NM_001164508.2(NEB):c.13734del (p.Asp4580fs)
NM_001164508.2(NEB):c.1374C>G (p.Tyr458Ter)
NM_001164508.2(NEB):c.13751_13752dup (p.Ile4585Ter) rs2153902749
NM_001164508.2(NEB):c.13756C>T (p.Gln4586Ter) rs1560283028
NM_001164508.2(NEB):c.13761del (p.Arg4588fs)
NM_001164508.2(NEB):c.13773C>A (p.Tyr4591Ter) rs1553862114
NM_001164508.2(NEB):c.13777del (p.Leu4593fs)
NM_001164508.2(NEB):c.13780C>T (p.Gln4594Ter) rs2097449114
NM_001164508.2(NEB):c.13788+1G>A rs1553862061
NM_001164508.2(NEB):c.13788+1G>C rs1553862061
NM_001164508.2(NEB):c.1417C>T (p.Gln473Ter)
NM_001164508.2(NEB):c.1459C>T (p.Gln487Ter)
NM_001164508.2(NEB):c.1470+1G>C rs1220787593
NM_001164508.2(NEB):c.1471-1G>A rs1553605995
NM_001164508.2(NEB):c.1526del (p.Pro509fs) rs1181351466
NM_001164508.2(NEB):c.1529_1533del (p.Val510fs) rs2099599008
NM_001164508.2(NEB):c.1537C>T (p.Gln513Ter) rs1171781332
NM_001164508.2(NEB):c.1555A>T (p.Lys519Ter)
NM_001164508.2(NEB):c.1558C>T (p.Gln520Ter) rs757999917
NM_001164508.2(NEB):c.1568dup (p.Asp523fs)
NM_001164508.2(NEB):c.1605del (p.Phe535fs)
NM_001164508.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001164508.2(NEB):c.1649_1650del (p.Lys550fs)
NM_001164508.2(NEB):c.1659_1662dup (p.Asn555delinsLeuTer)
NM_001164508.2(NEB):c.16707_16710dup (p.Tyr5571fs) rs2153808894
NM_001164508.2(NEB):c.1674+1G>A rs750585238
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.1674+2T>G
NM_001164508.2(NEB):c.1676del (p.Asn559fs) rs1576600442
NM_001164508.2(NEB):c.16779del (p.Val5594fs)
NM_001164508.2(NEB):c.16803_16804del (p.Phe5601fs) rs2153808479
NM_001164508.2(NEB):c.16909-1G>A rs2153806528
NM_001164508.2(NEB):c.17019_17020del (p.Tyr5674fs)
NM_001164508.2(NEB):c.17091_17094dup (p.Ala5699fs)
NM_001164508.2(NEB):c.17101dup (p.Arg5701fs)
NM_001164508.2(NEB):c.17196_17200del (p.Ile5732fs) rs1578011278
NM_001164508.2(NEB):c.17224C>T (p.Gln5742Ter) rs2153755942
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter) rs1427371913
NM_001164508.2(NEB):c.17242del (p.Arg5748fs)
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
NM_001164508.2(NEB):c.1732del (p.Asp578fs)
NM_001164508.2(NEB):c.17355C>A (p.Tyr5785Ter)
NM_001164508.2(NEB):c.17373C>A (p.Cys5791Ter) rs2153752710
NM_001164508.2(NEB):c.17415C>A (p.Tyr5805Ter) rs555516831
NM_001164508.2(NEB):c.17423_17427del (p.Gln5808fs)
NM_001164508.2(NEB):c.17430dup (p.Asn5811Ter)
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs) rs886043631
NM_001164508.2(NEB):c.17586_17587del (p.Asp5862fs)
NM_001164508.2(NEB):c.175C>T (p.Gln59Ter) rs867732907
NM_001164508.2(NEB):c.17653_17654del (p.Trp5885fs) rs2096504394
NM_001164508.2(NEB):c.17654G>A (p.Trp5885Ter) rs1340834766
NM_001164508.2(NEB):c.17695dup (p.Leu5899fs) rs2096502530
NM_001164508.2(NEB):c.17734del (p.Gln5912fs) rs2096501278
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
NM_001164508.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer) rs2096491549
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.17845-1G>A rs1371849916
NM_001164508.2(NEB):c.17845-1G>C rs1371849916
NM_001164508.2(NEB):c.17845-2A>T rs1177405905
NM_001164508.2(NEB):c.17856del (p.Ala5953fs)
NM_001164508.2(NEB):c.17928G>A (p.Trp5976Ter)
NM_001164508.2(NEB):c.17944C>T (p.Gln5982Ter)
NM_001164508.2(NEB):c.17986del (p.Thr5996fs) rs1577890764
NM_001164508.2(NEB):c.17989A>T (p.Lys5997Ter) rs2153739384
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) rs748358450
NM_001164508.2(NEB):c.18040C>T (p.Gln6014Ter) rs2153739049
NM_001164508.2(NEB):c.18081_18089del (p.Tyr6027_Gln6030delinsTer)
NM_001164508.2(NEB):c.1811del (p.Asn604fs)
NM_001164508.2(NEB):c.18124C>T (p.Gln6042Ter) rs1577886635
NM_001164508.2(NEB):c.18165C>A (p.Tyr6055Ter)
NM_001164508.2(NEB):c.18183G>A (p.Trp6061Ter)
NM_001164508.2(NEB):c.18187C>T (p.Arg6063Ter)
NM_001164508.2(NEB):c.18211del (p.Asp6071fs) rs997878946
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
NM_001164508.2(NEB):c.18270T>A (p.Tyr6090Ter) rs2153729960
NM_001164508.2(NEB):c.18358C>T (p.Gln6120Ter)
NM_001164508.2(NEB):c.18415dup (p.Ser6139fs)
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18594del (p.Thr6199fs)
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001164508.2(NEB):c.18714T>G (p.Tyr6238Ter) rs2153712099
NM_001164508.2(NEB):c.18781C>T (p.Gln6261Ter)
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001164508.2(NEB):c.18828G>A (p.Trp6276Ter) rs2153711477
NM_001164508.2(NEB):c.18955C>T (p.Gln6319Ter)
NM_001164508.2(NEB):c.18981C>A (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.19000C>T (p.Gln6334Ter)
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001164508.2(NEB):c.19036_19057del (p.Tyr6346fs)
NM_001164508.2(NEB):c.1905C>G (p.Tyr635Ter)
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter) rs2153703181
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.1920_1921delinsTT (p.Glu640_Lys641delinsAspTer)
NM_001164508.2(NEB):c.19214dup (p.Tyr6405Ter)
NM_001164508.2(NEB):c.19283_19284del (p.His6428fs)
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter) rs2153700128
NM_001164508.2(NEB):c.1933_1934del (p.Lys645fs) rs2149172715
NM_001164508.2(NEB):c.19384_19387del (p.Pro6462fs)
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
NM_001164508.2(NEB):c.19575del (p.Asp6526fs)
NM_001164508.2(NEB):c.19621del (p.Ser6541fs) rs2153659861
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter) rs1335300113
NM_001164508.2(NEB):c.19635C>G (p.Tyr6545Ter) rs1335300113
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter) rs2153657682
NM_001164508.2(NEB):c.19711_19714del (p.Ala6571fs) rs1577244250
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001164508.2(NEB):c.19813A>T (p.Lys6605Ter)
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter) rs2095359371
NM_001164508.2(NEB):c.19897del (p.Thr6633fs) rs2153647734
NM_001164508.2(NEB):c.19904_19914del (p.Asp6635fs)
NM_001164508.2(NEB):c.19915del (p.Ala6639fs) rs2153647595
NM_001164508.2(NEB):c.19929C>G (p.Tyr6643Ter) rs1440532058
NM_001164508.2(NEB):c.19936C>T (p.Gln6646Ter)
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
NM_001164508.2(NEB):c.19988del (p.Arg6663fs)
NM_001164508.2(NEB):c.20157+2T>A rs1553717306
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
NM_001164508.2(NEB):c.20225_20226del (p.Ile6742fs) rs2153617810
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.20281_20282dup (p.Phe6762fs) rs2094863263
NM_001164508.2(NEB):c.20311_20312del (p.Leu6771fs)
NM_001164508.2(NEB):c.20326del (p.Gln6776fs) rs2153615926
NM_001164508.2(NEB):c.20360_20361insA (p.Ser6788fs) rs2153615795
NM_001164508.2(NEB):c.20441_20442del (p.Arg6814fs)
NM_001164508.2(NEB):c.20446_20447del (p.Arg6816fs)
NM_001164508.2(NEB):c.20446dup (p.Arg6816fs) rs1559767662
NM_001164508.2(NEB):c.20466+2T>A
NM_001164508.2(NEB):c.20467-2A>C rs1392500142
NM_001164508.2(NEB):c.20536G>T (p.Glu6846Ter)
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001164508.2(NEB):c.20633del (p.Asp6878fs) rs2094062438
NM_001164508.2(NEB):c.20644_20645dup (p.Leu6883fs) rs2153574857
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs) rs1576517390
NM_001164508.2(NEB):c.20674_20675del (p.Gln6892fs) rs2153574675
NM_001164508.2(NEB):c.20719del (p.His6907fs)
NM_001164508.2(NEB):c.2075_2076del (p.His692fs) rs2149163148
NM_001164508.2(NEB):c.20791A>T (p.Lys6931Ter)
NM_001164508.2(NEB):c.20792dup (p.Tyr6932fs)
NM_001164508.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001164508.2(NEB):c.20918del (p.Lys6973fs)
NM_001164508.2(NEB):c.20934C>A (p.Tyr6978Ter) rs2153554020
NM_001164508.2(NEB):c.20974A>T (p.Lys6992Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) rs1559680233
NM_001164508.2(NEB):c.20976del (p.Val6993fs) rs1559680233
NM_001164508.2(NEB):c.20992dup (p.Ser6998fs) rs2153553633
NM_001164508.2(NEB):c.20995A>T (p.Lys6999Ter) rs2153553617
NM_001164508.2(NEB):c.21052del (p.Asp7018fs) rs1576695735
NM_001164508.2(NEB):c.21070del (p.His7024fs)
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
NM_001164508.2(NEB):c.21108del (p.Lys7036fs)
NM_001164508.2(NEB):c.21111T>A (p.Tyr7037Ter)
NM_001164508.2(NEB):c.21124_21128del (p.Thr7042fs)
NM_001164508.2(NEB):c.21198_21199del (p.Tyr7067fs) rs2093334853
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
NM_001164508.2(NEB):c.21230_21231insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTATTTGA (p.Glu7077_Arg7078insAlaGlyArgGlyGlySerArgLeuTer)
NM_001164508.2(NEB):c.21299_21302del (p.Gln7100fs)
NM_001164508.2(NEB):c.21318del (p.Lys7106fs) rs2092318339
NM_001164508.2(NEB):c.21405dup (p.Met7136fs) rs2153515167
NM_001164508.2(NEB):c.21426C>A (p.Tyr7142Ter) rs2091275452
NM_001164508.2(NEB):c.21500_21501del (p.Lys7167fs)
NM_001164508.2(NEB):c.21628_21630+2del rs2153489310
NM_001164508.2(NEB):c.21711_21712dup (p.Asp7238fs) rs1559580467
NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter) rs373946758
NM_001164508.2(NEB):c.21793del (p.Arg7265fs)
NM_001164508.2(NEB):c.21885_21888del (p.Val7297fs)
NM_001164508.2(NEB):c.21887_21888del (p.Ser7296fs)
NM_001164508.2(NEB):c.21933_21934insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAATACTTTA (p.Ile7312delinsPhePhePhePhePhePheXaaXaaXaaXaaValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_001164508.2(NEB):c.21960dup (p.Lys7321fs)
NM_001164508.2(NEB):c.2200C>T (p.Gln734Ter) rs780299519
NM_001164508.2(NEB):c.22016del (p.Leu7339fs) rs2153453450
NM_001164508.2(NEB):c.22030_22031del (p.Val7344fs)
NM_001164508.2(NEB):c.22044_22045del (p.Val7348_Ser7349insTer) rs2153453236
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.2212-1G>A rs2149103521
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22175del (p.Lys7392fs) rs2153447885
NM_001164508.2(NEB):c.22220del (p.Leu7407fs)
NM_001164508.2(NEB):c.22229del (p.Pro7410fs)
NM_001164508.2(NEB):c.22256_22257delinsG (p.Ala7419fs) rs1559534672
NM_001164508.2(NEB):c.22276del (p.Ala7426fs)
NM_001164508.2(NEB):c.22312_22315dup (p.Thr7439fs) rs2084217268
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter) rs1576203853
NM_001164508.2(NEB):c.22333_22339del (p.Asp7445fs)
NM_001164508.2(NEB):c.22351C>T (p.Gln7451Ter)
NM_001164508.2(NEB):c.22418dup (p.Leu7473fs) rs2084059565
NM_001164508.2(NEB):c.22477C>T (p.Gln7493Ter)
NM_001164508.2(NEB):c.22479+1G>C rs1057515575
NM_001164508.2(NEB):c.22511del (p.Lys7504fs) rs2080623161
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
NM_001164508.2(NEB):c.22641del (p.Met7547fs) rs1057515573
NM_001164508.2(NEB):c.22645G>T (p.Glu7549Ter) rs2080077889
NM_001164508.2(NEB):c.22651_22652del (p.Leu7551fs) rs2153386052
NM_001164508.2(NEB):c.22652del (p.Leu7551fs)
NM_001164508.2(NEB):c.22708A>T (p.Lys7570Ter)
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
NM_001164508.2(NEB):c.22728dup (p.Gly7577fs)
NM_001164508.2(NEB):c.22776dup (p.Glu7593fs) rs2079459982
NM_001164508.2(NEB):c.22792C>T (p.Gln7598Ter) rs752267876
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
NM_001164508.2(NEB):c.22812del (p.Glu7605fs) rs2153355216
NM_001164508.2(NEB):c.22813G>T (p.Glu7605Ter) rs767967099
NM_001164508.2(NEB):c.22814_22818del (p.Glu7605fs)
NM_001164508.2(NEB):c.22905+1del rs771740564
NM_001164508.2(NEB):c.22914T>A (p.Tyr7638Ter)
NM_001164508.2(NEB):c.22931del (p.Glu7644fs)
NM_001164508.2(NEB):c.22966del (p.Val7656fs) rs2153320686
NM_001164508.2(NEB):c.23060del (p.Gly7687fs)
NM_001164508.2(NEB):c.23134_23144del (p.Tyr7712fs) rs2153276539
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
NM_001164508.2(NEB):c.23175dup (p.Asn7726fs)
NM_001164508.2(NEB):c.2320A>T (p.Lys774Ter)
NM_001164508.2(NEB):c.23283del (p.Phe7761fs)
NM_001164508.2(NEB):c.23320C>T (p.Gln7774Ter)
NM_001164508.2(NEB):c.23344C>T (p.Gln7782Ter) rs2153272667
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs) rs1559360386
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001164508.2(NEB):c.23385T>G (p.Tyr7795Ter) rs2153218155
NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)
NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs) rs1057515574
NM_001164508.2(NEB):c.23449dup (p.Leu7817fs)
NM_001164508.2(NEB):c.23461C>T (p.Gln7821Ter)
NM_001164508.2(NEB):c.23476_23479dup (p.Ser7827fs)
NM_001164508.2(NEB):c.23495_23496del (p.Thr7832fs)
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs) rs762780413
NM_001164508.2(NEB):c.23498_23499insA (p.Val7834fs)
NM_001164508.2(NEB):c.23500_23501del (p.Val7834fs)
NM_001164508.2(NEB):c.23505del (p.Asp7836fs) rs2153196376
NM_001164508.2(NEB):c.23539C>T (p.Gln7847Ter)
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter) rs537560378
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs) rs1161478770
NM_001164508.2(NEB):c.23660del (p.Lys7887fs)
NM_001164508.2(NEB):c.23711del (p.Arg7904fs)
NM_001164508.2(NEB):c.23746_23747dup (p.Met7916fs) rs2153115303
NM_001164508.2(NEB):c.23786_23787del (p.Val7929fs)
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23803_23806del (p.Arg7935fs)
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs) rs753192734
NM_001164508.2(NEB):c.23847del (p.Glu7950fs) rs1575305566
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs) rs1559296376
NM_001164508.2(NEB):c.23869_23870delinsTA (p.Pro7957Ter)
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
NM_001164508.2(NEB):c.23896_23899del (p.Arg7966fs) rs2153102752
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs) rs761694639
NM_001164508.2(NEB):c.23937C>A (p.Tyr7979Ter)
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter) rs779173742
NM_001164508.2(NEB):c.23939_23942dup (p.Asn7982fs) rs2153073575
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.23971_23974dup (p.Thr7992fs)
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs) rs748550315
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs) rs748550315
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs) rs2064439011
NM_001164508.2(NEB):c.24003_24006dup (p.Glu8003fs) rs1553568447
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter) rs2153072192
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24020C>A (p.Ser8007Ter)
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24038del (p.Asn8013fs)
NM_001164508.2(NEB):c.24046A>T (p.Lys8016Ter)
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
NM_001164508.2(NEB):c.24077_24084del (p.Met8026fs) rs2153021199
NM_001164508.2(NEB):c.24084_24085del (p.Arg8028fs)
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24130_24131insGC (p.Asn8044fs)
NM_001164508.2(NEB):c.24143del (p.Gly8048fs) rs1553556154
NM_001164508.2(NEB):c.2415+1G>A rs1057524581
NM_001164508.2(NEB):c.24175_24178dup (p.Val8060fs) rs1266535163
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs) rs2061721973
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs) rs2152991690
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24206C>A (p.Ser8069Ter) rs1037388276
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs) rs1575024425
NM_001164508.2(NEB):c.24245T>A (p.Leu8082Ter) rs1559218052
NM_001164508.2(NEB):c.2425A>T (p.Lys809Ter)
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs) rs1559217202
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24286del (p.Glu8096fs)
NM_001164508.2(NEB):c.2428C>T (p.Gln810Ter)
NM_001164508.2(NEB):c.24291_24294dup (p.Ser8099delinsTyrTer) rs2061157682
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24329_24332dup (p.Pro8112fs) rs1574981296
NM_001164508.2(NEB):c.24335_24338dup (p.Pro8114fs)
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs) rs752582527
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs) rs1553548207
NM_001164508.2(NEB):c.24376C>T (p.Gln8126Ter)
NM_001164508.2(NEB):c.24376_24377insCC (p.Gln8126fs) rs2152954992
NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs) rs1553545126
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24461_24464dup (p.His8155fs) rs2152937269
NM_001164508.2(NEB):c.24469C>T (p.Gln8157Ter)
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs) rs2152876577
NM_001164508.2(NEB):c.24510dup (p.Lys8171fs)
NM_001164508.2(NEB):c.24517_24518dup (p.Ala8174fs) rs2152876293
NM_001164508.2(NEB):c.24546del (p.Arg8183fs)
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24575dup (p.Ser8192fs) rs2152874815
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24615_24616insCA (p.Thr8206fs)
NM_001164508.2(NEB):c.24617del (p.Thr8206fs) rs2152863770
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24667dup (p.Ser8223fs)
NM_001164508.2(NEB):c.24672+1del rs2152861881
NM_001164508.2(NEB):c.24683_24684del (p.Lys8228fs)
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs) rs761067911
NM_001164508.2(NEB):c.24710dup (p.Pro8238fs)
NM_001164508.2(NEB):c.24722_24723del (p.Pro8241fs)
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24766-1G>C rs2152829108
NM_001164508.2(NEB):c.24798del (p.Gln8267fs)
NM_001164508.2(NEB):c.24816T>G (p.Tyr8272Ter) rs1265163979
NM_001164508.2(NEB):c.24968_24969insG (p.Asp8323fs)
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.24994_24995dup (p.Gln8333fs)
NM_001164508.2(NEB):c.24996del (p.Gln8333fs) rs1553526884
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter) rs2152821411
NM_001164508.2(NEB):c.25088C>A (p.Ser8363Ter)
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) rs760200697
NM_001164508.2(NEB):c.25165del (p.Arg8389fs)
NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter) rs121913662
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter) rs2055484249
NM_001164508.2(NEB):c.25209dup (p.Gly8404fs) rs2152777457
NM_001164508.2(NEB):c.25259C>A (p.Ser8420Ter) rs949111967
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter) rs2152763931
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter) rs2152620357
NM_001164508.2(NEB):c.2566_2569del (p.Ile856fs) rs2148949901
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter) rs1333519240
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001164508.2(NEB):c.2675_2678del (p.Ile892fs) rs2148844303
NM_001164508.2(NEB):c.2778C>A (p.Tyr926Ter) rs1576286971
NM_001164508.2(NEB):c.2783del (p.Pro928fs)
NM_001164508.2(NEB):c.2880_2883del (p.Trp961fs) rs2148735901
NM_001164508.2(NEB):c.288del (p.Phe96fs) rs2150918170
NM_001164508.2(NEB):c.2921_2924del (p.Arg974fs)
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.2951dup (p.Tyr984Ter)
NM_001164508.2(NEB):c.3025C>T (p.Gln1009Ter)
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter) rs2099402392
NM_001164508.2(NEB):c.3096del (p.Asp1033fs)
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer) rs2099386637
NM_001164508.2(NEB):c.3270del (p.Asp1091fs) rs2099386610
NM_001164508.2(NEB):c.3270dup (p.Asp1091fs)
NM_001164508.2(NEB):c.331C>T (p.Gln111Ter)
NM_001164508.2(NEB):c.3342T>A (p.Tyr1114Ter)
NM_001164508.2(NEB):c.3373G>T (p.Glu1125Ter)
NM_001164508.2(NEB):c.3384del (p.Asp1129fs) rs2099386045
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
NM_001164508.2(NEB):c.3394_3395insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATGAGA (p.Lys1132delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysArgLeuTer)
NM_001164508.2(NEB):c.3400_3401del (p.Lys1134fs) rs2148495720
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) rs1463906422
NM_001164508.2(NEB):c.3553C>T (p.Gln1185Ter)
NM_001164508.2(NEB):c.3562_3563del (p.Gln1187_Ser1188insTer) rs2154210386
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter) rs748453057
NM_001164508.2(NEB):c.3648del (p.Lys1218fs)
NM_001164508.2(NEB):c.3649A>T (p.Lys1217Ter)
NM_001164508.2(NEB):c.3653del (p.Lys1218fs)
NM_001164508.2(NEB):c.3664del (p.Ala1222fs)
NM_001164508.2(NEB):c.3691del (p.His1231fs)
NM_001164508.2(NEB):c.3731del (p.Pro1244fs) rs2154209597
NM_001164508.2(NEB):c.3774+1G>A rs111293259
NM_001164508.2(NEB):c.3843del (p.Leu1282fs) rs2154199737
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3879+2T>C rs2099350888
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3889A>T (p.Lys1297Ter)
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter) rs1559093497
NM_001164508.2(NEB):c.39C>G (p.Tyr13Ter)
NM_001164508.2(NEB):c.4069del (p.His1357fs)
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4132A>T (p.Lys1378Ter) rs2154193668
NM_001164508.2(NEB):c.413del (p.Arg138fs)
NM_001164508.2(NEB):c.4151_4152insAGGAACACCAAAACCAGCTACCATACCCC (p.Asp1386fs)
NM_001164508.2(NEB):c.4347G>A (p.Trp1449Ter) rs2154190685
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter) rs2099279723
NM_001164508.2(NEB):c.445del (p.His149fs) rs2150762300
NM_001164508.2(NEB):c.4485dup (p.Asn1496Ter) rs2154190331
NM_001164508.2(NEB):c.4535_4536del (p.Leu1512fs) rs2099254893
NM_001164508.2(NEB):c.4550del (p.Thr1517fs) rs2154185730
NM_001164508.2(NEB):c.4550dup (p.Ile1518fs)
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4631G>A (p.Trp1544Ter)
NM_001164508.2(NEB):c.4646_4647del (p.Ala1549fs)
NM_001164508.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
NM_001164508.2(NEB):c.4725dup (p.Tyr1576fs)
NM_001164508.2(NEB):c.4740C>A (p.Tyr1580Ter) rs766168868
NM_001164508.2(NEB):c.4751_4752del (p.Lys1584fs)
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter) rs2154179061
NM_001164508.2(NEB):c.4843A>T (p.Lys1615Ter) rs1237432906
NM_001164508.2(NEB):c.4924del (p.Glu1642fs)
NM_001164508.2(NEB):c.493C>T (p.Gln165Ter) rs2099785680
NM_001164508.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001164508.2(NEB):c.5023C>T (p.Gln1675Ter)
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
NM_001164508.2(NEB):c.5225_5226del (p.Leu1742fs) rs2154176983
NM_001164508.2(NEB):c.5229dup (p.Met1744fs) rs2154176971
NM_001164508.2(NEB):c.5245_5254del (p.Tyr1749fs) rs2099191297
NM_001164508.2(NEB):c.5258G>A (p.Trp1753Ter) rs776635100
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter) rs2154175437
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.5346del (p.Lys1782fs) rs2154174916
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter) rs201636991
NM_001164508.2(NEB):c.5388T>A (p.Tyr1796Ter) rs2099187757
NM_001164508.2(NEB):c.5440_5449dup (p.Tyr1818delinsCysGlnTer)
NM_001164508.2(NEB):c.5458_5459del (p.Tyr1820fs) rs2154172885
NM_001164508.2(NEB):c.5493_5494del (p.Ile1832fs) rs2154172818
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs) rs2154172729
NM_001164508.2(NEB):c.5557C>T (p.Gln1853Ter) rs2154172676
NM_001164508.2(NEB):c.5587G>T (p.Glu1863Ter) rs1375183081
NM_001164508.2(NEB):c.5595dup (p.Lys1866fs) rs2154172582
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.5959dup (p.Ile1987fs) rs2154168541
NM_001164508.2(NEB):c.5977dup (p.Tyr1993fs) rs2099118606
NM_001164508.2(NEB):c.5991_5992del (p.Trp1997_Glu1998delinsTer)
NM_001164508.2(NEB):c.6067_6068del (p.Met2023fs)
NM_001164508.2(NEB):c.6076-2A>C rs1553469514
NM_001164508.2(NEB):c.6076-2A>G rs1553469514
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.6103dup (p.Ser2035fs) rs2154154153
NM_001164508.2(NEB):c.6112_6115del (p.Lys2038fs) rs1575358650
NM_001164508.2(NEB):c.611del (p.Lys204fs) rs2150729369
NM_001164508.2(NEB):c.617del (p.Leu206fs) rs2150664716
NM_001164508.2(NEB):c.6204T>G (p.Tyr2068Ter) rs2154149362
NM_001164508.2(NEB):c.6205G>T (p.Glu2069Ter)
NM_001164508.2(NEB):c.6242_6243del (p.Leu2081fs) rs2154149251
NM_001164508.2(NEB):c.633G>A (p.Trp211Ter) rs2099780461
NM_001164508.2(NEB):c.6343_6344dup (p.Ala2117fs) rs1575295628
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.63del (p.Glu22fs) rs2150994126
NM_001164508.2(NEB):c.6542G>A (p.Trp2181Ter) rs2099082250
NM_001164508.2(NEB):c.6562del (p.Glu2188fs) rs1558883594
NM_001164508.2(NEB):c.6572del (p.Lys2191fs)
NM_001164508.2(NEB):c.6609del (p.Lys2203fs)
NM_001164508.2(NEB):c.660del (p.Tyr221fs) rs2150663206
NM_001164508.2(NEB):c.6639del (p.Phe2213fs) rs2154147691
NM_001164508.2(NEB):c.6673dup (p.Ala2225fs)
NM_001164508.2(NEB):c.6709_6710del (p.Tyr2237fs)
NM_001164508.2(NEB):c.6710del (p.Tyr2237fs) rs2099076260
NM_001164508.2(NEB):c.6722G>A (p.Trp2241Ter)
NM_001164508.2(NEB):c.6734dup (p.Thr2246fs) rs2099076059
NM_001164508.2(NEB):c.6753del (p.Met2251fs) rs2099075936
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter) rs773605767
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.6824del (p.Gly2275fs) rs2099060040
NM_001164508.2(NEB):c.6884dup (p.Ala2296fs)
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
NM_001164508.2(NEB):c.6993del (p.Val2332fs) rs2099021112
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
NM_001164508.2(NEB):c.7152C>A (p.Tyr2384Ter) rs2099020340
NM_001164508.2(NEB):c.7163G>A (p.Trp2388Ter) rs2154135091
NM_001164508.2(NEB):c.7219C>T (p.Gln2407Ter) rs2099019846
NM_001164508.2(NEB):c.724del (p.Tyr242fs) rs1577548638
NM_001164508.2(NEB):c.7253G>A (p.Trp2418Ter) rs1575122070
NM_001164508.2(NEB):c.732del (p.Gly245fs) rs1486623736
NM_001164508.2(NEB):c.7335_7338del (p.Lys2445fs) rs2154134253
NM_001164508.2(NEB):c.736del (p.Leu246fs) rs2099762296
NM_001164508.2(NEB):c.739del (p.Ala247fs) rs2150350376
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001164508.2(NEB):c.745C>T (p.Gln249Ter)
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7527_7531del (p.Asn2509fs) rs2154122471
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
NM_001164508.2(NEB):c.7611del (p.Ala2538fs)
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.7892G>A (p.Trp2631Ter) rs2098919758
NM_001164508.2(NEB):c.79-1G>A
NM_001164508.2(NEB):c.7900del (p.Leu2634fs)
NM_001164508.2(NEB):c.7956+1G>A rs2098919015
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
NM_001164508.2(NEB):c.7984del (p.Trp2661_Leu2662insTer) rs2098910159
NM_001164508.2(NEB):c.7997del (p.Gly2666fs) rs2098909937
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001164508.2(NEB):c.8056del (p.Ser2686fs)
NM_001164508.2(NEB):c.8234T>G (p.Leu2745Ter)
NM_001164508.2(NEB):c.8269_8270dup (p.Leu2757fs) rs2154113080
NM_001164508.2(NEB):c.8386del (p.Glu2796fs) rs2154105644
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001164508.2(NEB):c.8425del (p.Arg2809fs) rs1574820458
NM_001164508.2(NEB):c.8458_8459del (p.Ser2820fs) rs776982138
NM_001164508.2(NEB):c.8545_8546dup (p.Met2849fs)
NM_001164508.2(NEB):c.855_856insGCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATAAAATC (p.Lys286delinsAlaArgLeuProLeuProLeuProSerProSerProValSerLeuSerLeuSerArgLeuXaaXaaXaaXaaLysLysLysLysLysLysArgLysTer)
NM_001164508.2(NEB):c.8585_8588del (p.Val2862fs)
NM_001164508.2(NEB):c.858del (p.Gly287fs)
NM_001164508.2(NEB):c.870_873del (p.Ser290fs) rs2150050727
NM_001164508.2(NEB):c.8729G>A (p.Trp2910Ter)
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter) rs1351747266
NM_001164508.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001164508.2(NEB):c.8910G>A (p.Trp2970Ter)
NM_001164508.2(NEB):c.9211_9218del (p.Ser3071fs)
NM_001164508.2(NEB):c.9217_9218del (p.Arg3073fs) rs1574526903
NM_001164508.2(NEB):c.9225C>G (p.Tyr3075Ter)
NM_001164508.2(NEB):c.9283dup (p.Val3095fs)
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
NM_001164508.2(NEB):c.934del (p.Tyr312fs) rs2150020225
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter) rs1577253760
NM_001164508.2(NEB):c.9396del (p.Tyr3133fs)
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9508dup (p.Ile3170fs)
NM_001164508.2(NEB):c.9528C>A (p.Tyr3176Ter)
NM_001164508.2(NEB):c.9532C>T (p.Gln3178Ter) rs2154073221
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter) rs2098659971
NM_001164508.2(NEB):c.9600del (p.Asn3200fs) rs2154072959
NM_001164508.2(NEB):c.9619-1G>A rs1390379576
NM_001164508.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001164508.2(NEB):c.9840C>G (p.Tyr3280Ter) rs766355387
NM_001164508.2(NEB):c.9954T>G (p.Tyr3318Ter) rs763541152
NM_001271208.1(NEB):c.21103delG rs1553686994
NM_001271208.2(NEB):c.18696_18697insSVAelement
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) rs199476147
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) rs199476146
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.4(TPM2):c.606C>G (p.Asn202Lys) rs137853307
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_006063.3(KLHL41):c.1044T>G (p.Tyr348Ter)
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) rs730882260
NM_006063.3(KLHL41):c.1296del (p.Lys432fs) rs1288106608
NM_006063.3(KLHL41):c.1307_1308del (p.Lys436fs) rs2105309832
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) rs749464576
NM_006063.3(KLHL41):c.1425G>A (p.Trp475Ter)
NM_006063.3(KLHL41):c.155_159del (p.Ser52fs)
NM_006063.3(KLHL41):c.1566G>A (p.Trp522Ter) rs2105312506
NM_006063.3(KLHL41):c.1632_1633del (p.Tyr545fs)
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) rs1247404453
NM_006063.3(KLHL41):c.1690G>T (p.Glu564Ter) rs2105312600
NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) rs730882258
NM_006063.3(KLHL41):c.215del (p.Lys72fs) rs775513051
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) rs775513051
NM_006063.3(KLHL41):c.459delinsACTC (p.Ser153_Ala154insLeu) rs730882257
NM_006063.3(KLHL41):c.468dup (p.Phe157fs)
NM_006063.3(KLHL41):c.575AAG[2] (p.Glu194del) rs730882259
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006063.3(KLHL41):c.756_757insT (p.Lys253Ter)
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs) rs1574349645
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) rs1571418855
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
NM_152263.4(TPM3):c.455C>T (p.Ala152Val) rs1553249076
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.87_91del (p.Gln30fs) rs2148295371
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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