NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
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.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.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
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.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.9414+1G>T
|
rs1255445731
|
0.00001
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
NM_001164508.2(NEB):c.11806-1G>A
|
rs886041851
|
|
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)
|
rs1212374733
|
|
NM_001164508.2(NEB):c.13788+1G>A
|
rs1553862061
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
|
|
|
NM_001164508.2(NEB):c.2499del (p.Ala834fs)
|
rs1553564693
|
|
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398
|
|
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
NM_001164508.2(NEB):c.3843del (p.Leu1282fs)
|
rs2154199737
|
|
NM_001164508.2(NEB):c.3880-2A>G
|
rs1342507012
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)
|
rs2154175437
|
|
NM_001164508.2(NEB):c.5343+5G>A
|
rs2154175371
|
|
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)
|
rs1057516758
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
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.8860del (p.Ala2954fs)
|
rs1553964158
|
|
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.9619-1G>A
|
rs1390379576
|
|
NM_001271208.1(NEB):c.21103delG
|
rs1553686994
|
|