NM_001164508.2(NEB):c.23241+16C>T
|
rs75221580
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
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.22428C>T (p.Leu7476=)
|
rs371431256
|
0.00005
|
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_001164508.2(NEB):c.22800+1G>A
|
rs1302373559
|
0.00003
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
NM_001164508.2(NEB):c.21736-13_21743del
|
rs767772838
|
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.22696-1G>A
|
rs745511810
|
0.00001
|
NM_001164508.2(NEB):c.22905+2T>C
|
rs1553623367
|
0.00001
|
NM_001164508.2(NEB):c.23279A>G (p.Asn7760Ser)
|
rs1232744915
|
0.00001
|
NM_001164508.2(NEB):c.23451+1G>T
|
rs1011425121
|
0.00001
|
NM_001164508.2(NEB):c.24022-1G>C
|
rs1553561697
|
0.00001
|
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)
|
rs763193315
|
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.24300+1G>A
|
rs1366853918
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.24393+1G>A
|
rs775631800
|
0.00001
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA
|
rs1357452519
|
0.00001
|
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)
|
rs1242654062
|
0.00001
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
NM_001164507.2(NEB):c.21358del (p.Leu7120fs)
|
rs1553678967
|
|
NM_001164508.2(NEB):c.21543CAA[1] (p.Asn7182del)
|
rs758160111
|
|
NM_001164508.2(NEB):c.21630+1G>A
|
rs1446706909
|
|
NM_001164508.2(NEB):c.21736-2A>G
|
rs1389892619
|
|
NM_001164508.2(NEB):c.21946-2del
|
rs1553647715
|
|
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=)
|
rs267598918
|
|
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter)
|
rs1553646540
|
|
NM_001164508.2(NEB):c.22099ACA[1] (p.Thr7368del)
|
rs1553646403
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
NM_001164508.2(NEB):c.22162-5_22162-2del
|
rs1553644243
|
|
NM_001164508.2(NEB):c.22273-1G>A
|
rs1553642332
|
|
NM_001164508.2(NEB):c.22273-36CT[5]
|
rs751597547
|
|
NM_001164508.2(NEB):c.22273-6_22273-2dup
|
rs758609054
|
|
NM_001164508.2(NEB):c.22339AAG[1] (p.Lys7448del)
|
rs1553641943
|
|
NM_001164508.2(NEB):c.22374+13_22374+33dup
|
rs1553641788
|
|
NM_001164508.2(NEB):c.22479+1del
|
rs1488066635
|
|
NM_001164508.2(NEB):c.22642_22644del (p.Lys7548del)
|
rs1553629857
|
|
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del)
|
rs760161843
|
|
NM_001164508.2(NEB):c.22800+2T>G
|
rs1553627466
|
|
NM_001164508.2(NEB):c.22905+2dup
|
rs1553623381
|
|
NM_001164508.2(NEB):c.22906-6_22906-2del
|
rs1014710501
|
|
NM_001164508.2(NEB):c.23128-18del
|
rs1553616477
|
|
NM_001164508.2(NEB):c.23241+2T>A
|
rs1553615846
|
|
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del)
|
rs1553614214
|
|
NM_001164508.2(NEB):c.23378_23380del (p.Met7793_Ser7794delinsThr)
|
rs1553603652
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs)
|
rs1553603438
|
|
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)
|
rs1553603400
|
|
NM_001164508.2(NEB):c.23451+1G>C
|
rs1011425121
|
|
NM_001164508.2(NEB):c.23497GTT[1] (p.Val7834del)
|
rs1553601408
|
|
NM_001164508.2(NEB):c.23638_23640del (p.His7880del)
|
rs1553598770
|
|
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter)
|
rs755970391
|
|
NM_001164508.2(NEB):c.23835+1G>A
|
rs781120931
|
|
NM_001164508.2(NEB):c.23848_23850del (p.Glu7950del)
|
rs1553576655
|
|
NM_001164508.2(NEB):c.23872_23874dup (p.Thr7958dup)
|
rs764993333
|
|
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)
|
rs761694639
|
|
NM_001164508.2(NEB):c.23929-1_23930dup
|
rs1427250696
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
NM_001164508.2(NEB):c.23929-7CA[2]
|
rs1217738625
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs)
|
rs1553568447
|
|
NM_001164508.2(NEB):c.24012_24014dup (p.Phe8005dup)
|
rs1553568381
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
NM_001164508.2(NEB):c.24022-1G>A
|
rs1553561697
|
|
NM_001164508.2(NEB):c.24022-1_24029del
|
rs1423137705
|
|
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs)
|
rs1553561665
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
NM_001164508.2(NEB):c.24039del (p.Asn8013fs)
|
rs1553561525
|
|
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)
|
rs1553561211
|
|
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs)
|
rs1553556275
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24207+2T>C
|
rs1553555768
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)
|
rs1553552384
|
|
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup)
|
rs769252768
|
|
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.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs)
|
rs1553551650
|
|
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)
|
rs780724946
|
|
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)
|
rs1553548771
|
|
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter)
|
rs1553548752
|
|
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter)
|
rs1332061304
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup)
|
rs942843328
|
|
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.24375_24377dup (p.Asn8125_Gln8126insHis)
|
rs1372551649
|
|
NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs)
|
rs1553548018
|
|
NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup)
|
rs767474018
|
|
NM_001164508.2(NEB):c.24394-1G>A
|
rs1421095081
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del)
|
rs1553544463
|
|
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.24580-2A>G
|
rs113290650
|
|
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter)
|
rs1553536267
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24673-2A>C
|
rs112687345
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24766-9_24767del
|
rs1553530144
|
|
NM_001164508.2(NEB):c.24883_24885del (p.His8295del)
|
rs1553527955
|
|
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del)
|
rs755822172
|
|
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter)
|
rs1553526619
|
|
NM_001164508.2(NEB):c.25057+1G>A
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+1G>C
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25058-2A>C
|
rs866309952
|
|
NM_001164508.2(NEB):c.25151-1G>T
|
rs1553520609
|
|
NM_001164508.2(NEB):c.25182_25187del (p.Arg8395_Ser8396del)
|
rs1553520388
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
NM_001164508.2(NEB):c.25297+2del
|
rs1553519860
|
|
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter)
|
rs1553519124
|
|
NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del)
|
rs1553519071
|
|
NM_001164508.2(NEB):c.25404+2T>A
|
rs1553518813
|
|
NM_001164508.2(NEB):c.25405-1G>C
|
rs1553508368
|
|
NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter)
|
rs1304300842
|
|
NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter)
|
rs1206080778
|
|
NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr)
|
rs1211056097
|
|
NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter)
|
rs776932788
|
|
NM_001164508.2(NEB):c.25544del (p.Gly8515fs)
|
rs1205824305
|
|
NM_001271208.1(NEB):c.23940+17_23940+21del
|
rs768100915
|
|
NM_004543.5(NEB):c.18826-1350_18826-1348dup
|
rs1553552449
|
|