NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001698.3(AUH):c.721C>T (p.Arg241Ter)
|
rs200212229
|
0.00012
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)
|
rs121434636
|
0.00003
|
NM_001698.3(AUH):c.80del (p.Ser27fs)
|
rs730880310
|
0.00003
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
NM_001698.3(AUH):c.505+1G>C
|
rs773652620
|
0.00002
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)
|
rs759203841
|
0.00001
|
NM_001698.3(AUH):c.263-2A>G
|
rs730880311
|
0.00001
|
NM_001698.3(AUH):c.943-2A>G
|
rs730880312
|
0.00001
|
NC_000009.12:g.(?_91220785)_(91221012_?)del
|
|
|
NC_000009.12:g.91220993dup
|
rs781142774
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NG_008017.1:g.?_(11043_41520)del
|
|
|
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)
|
rs386833777
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.3329+1G>T
|
rs1205598688
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)
|
rs2131820786
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)
|
rs1161400848
|
|
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
|
|
|
NM_001698.3(AUH):c.197del (p.Gly66fs)
|
rs1219516037
|
|
NM_001698.3(AUH):c.330+1G>A
|
rs751318305
|
|
NM_001698.3(AUH):c.39dup (p.Ser14fs)
|
|
|
NM_001698.3(AUH):c.419-2A>G
|
|
|
NM_001698.3(AUH):c.471del (p.Phe157fs)
|
|
|
NM_001698.3(AUH):c.516dup (p.Val173fs)
|
|
|
NM_001698.3(AUH):c.559G>A (p.Gly187Ser)
|
rs387906755
|
|
NM_001698.3(AUH):c.650G>A (p.Gly217Asp)
|
rs387906756
|
|
NM_001698.3(AUH):c.895-1G>A
|
rs730880309
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|