NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
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.11164C>T (p.Arg3722Ter)
|
rs928945364
|
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.18891+1G>A
|
rs1443738549
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.10560+1G>A
|
rs1553915731
|
|
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)
|
rs1259297878
|
|
NM_001164508.2(NEB):c.11825G>A (p.Trp3942Ter)
|
rs1553887191
|
|
NM_001164508.2(NEB):c.12098del (p.Met4033fs)
|
|
|
NM_001164508.2(NEB):c.12300del (p.Ala4101fs)
|
|
|
NM_001164508.2(NEB):c.12405_12406del (p.Arg4135fs)
|
rs1553877885
|
|
NM_001164508.2(NEB):c.14323G>T (p.Glu4775Ter)
|
rs1131691787
|
|
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter)
|
rs1064796311
|
|
NM_001164508.2(NEB):c.16839dup (p.Lys5614Ter)
|
|
|
NM_001164508.2(NEB):c.17235dup (p.Glu5746fs)
|
rs1578009926
|
|
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)
|
rs748358450
|
|
NM_001164508.2(NEB):c.2033del (p.Leu678fs)
|
|
|
NM_001164508.2(NEB):c.20858del (p.Ile6953fs)
|
rs1064794461
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.2415+1G>A
|
rs1057524581
|
|
NM_001164508.2(NEB):c.2415+1G>T
|
rs1057524581
|
|
NM_001164508.2(NEB):c.2772C>A (p.Tyr924Ter)
|
rs1466946196
|
|
NM_001164508.2(NEB):c.36+1G>T
|
rs1553711195
|
|
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter)
|
rs1386238241
|
|
NM_001164508.2(NEB):c.3880-2A>G
|
rs1342507012
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3988-2_3988-1delinsTATA
|
rs1553517142
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.4507-2A>G
|
rs1575668113
|
|
NM_001164508.2(NEB):c.4720-2A>G
|
rs1057518353
|
|
NM_001164508.2(NEB):c.5075del (p.Gly1692fs)
|
rs2154177314
|
|
NM_001164508.2(NEB):c.520C>T (p.Gln174Ter)
|
rs2150732849
|
|
NM_001164508.2(NEB):c.6075+3A>T
|
rs986325764
|
|
NM_001164508.2(NEB):c.6594T>A (p.Tyr2198Ter)
|
|
|
NM_001164508.2(NEB):c.6667del (p.Val2223fs)
|
|
|
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter)
|
rs773605767
|
|
NM_001164508.2(NEB):c.7519_7520del (p.Leu2507fs)
|
|
|
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter)
|
rs762881892
|
|
NM_001164508.2(NEB):c.9102+1G>A
|
rs143644938
|
|