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_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
NM_001164508.2(NEB):c.23279A>G (p.Asn7760Ser)
|
rs1232744915
|
0.00001
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)
|
rs1242654062
|
0.00001
|
NM_001164508.2(NEB):c.21543CAA[1] (p.Asn7182del)
|
rs758160111
|
|
NM_001164508.2(NEB):c.21946-2del
|
rs1553647715
|
|
NM_001164508.2(NEB):c.22099ACA[1] (p.Thr7368del)
|
rs1553646403
|
|
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.22642_22644del (p.Lys7548del)
|
rs1553629857
|
|
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del)
|
rs760161843
|
|
NM_001164508.2(NEB):c.22905+2dup
|
rs1553623381
|
|
NM_001164508.2(NEB):c.22906-6_22906-2del
|
rs1014710501
|
|
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.23497GTT[1] (p.Val7834del)
|
rs1553601408
|
|
NM_001164508.2(NEB):c.23638_23640del (p.His7880del)
|
rs1553598770
|
|
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.24210_24212dup (p.Leu8071dup)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup)
|
rs769252768
|
|
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)
|
rs780724946
|
|
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup)
|
rs942843328
|
|
NM_001164508.2(NEB):c.24375_24377dup (p.Asn8125_Gln8126insHis)
|
rs1372551649
|
|
NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup)
|
rs767474018
|
|
NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del)
|
rs1553544463
|
|
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.25182_25187del (p.Arg8395_Ser8396del)
|
rs1553520388
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del)
|
rs1553519071
|
|
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_004543.5(NEB):c.18826-1350_18826-1348dup
|
rs1553552449
|
|