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
|
|