NM_030943.4(AMN):c.1170-6C>T
|
rs386834164
|
0.00296
|
NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
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_001081.4(CUBN):c.348+2T>C
|
rs146047781
|
0.00012
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)
|
rs201720797
|
0.00003
|
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)
|
rs756614749
|
0.00002
|
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)
|
rs370038232
|
0.00002
|
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)
|
rs119478058
|
0.00002
|
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser)
|
rs386833787
|
0.00001
|
NM_001081.4(CUBN):c.4856-1del
|
rs750520309
|
0.00001
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
0.00001
|
NM_030943.4(AMN):c.1257+10C>T
|
rs386834166
|
0.00001
|
NM_030943.4(AMN):c.844-1G>C
|
rs969552874
|
0.00001
|
NM_001081.4(CUBN):c.10033-1G>A
|
|
|
NM_001081.4(CUBN):c.1015+1G>A
|
|
|
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs)
|
rs754704005
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
NM_001081.4(CUBN):c.10528+1G>A
|
|
|
NM_001081.4(CUBN):c.1230+1G>A
|
rs386833766
|
|
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)
|
rs386833767
|
|
NM_001081.4(CUBN):c.1526del (p.Gly509fs)
|
rs386833768
|
|
NM_001081.4(CUBN):c.1530G>A (p.Lys510=)
|
rs386833769
|
|
NM_001081.4(CUBN):c.1838del (p.Gly613fs)
|
rs386833770
|
|
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter)
|
rs182512508
|
|
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val)
|
rs386833772
|
|
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu)
|
rs386833773
|
|
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter)
|
rs386833774
|
|
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs)
|
rs386833775
|
|
NM_001081.4(CUBN):c.252+1G>A
|
rs386833776
|
|
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.2792-1G>T
|
rs2131845016
|
|
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter)
|
rs386833779
|
|
NM_001081.4(CUBN):c.3008+2_3008+5del
|
rs2131844654
|
|
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter)
|
rs386833780
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter)
|
rs1564492988
|
|
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly)
|
rs386833783
|
|
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe)
|
rs386833784
|
|
NM_001081.4(CUBN):c.3829+1G>A
|
|
|
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter)
|
rs386833785
|
|
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg)
|
rs386833786
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu)
|
rs386833788
|
|
NM_001081.4(CUBN):c.4350+2T>C
|
rs371489485
|
|
NM_001081.4(CUBN):c.4351-1G>C
|
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
NM_001081.4(CUBN):c.489G>A (p.Lys163=)
|
rs386833789
|
|
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs)
|
rs1564443979
|
|
NM_001081.4(CUBN):c.4969+2T>G
|
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)
|
rs1168074679
|
|
NM_001081.4(CUBN):c.5549-2A>C
|
rs1564435513
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser)
|
rs386833790
|
|
NM_001081.4(CUBN):c.6822-1G>A
|
|
|
NM_001081.4(CUBN):c.7001-2A>T
|
rs2131458620
|
|
NM_001081.4(CUBN):c.7001-2del
|
rs756427983
|
|
NM_001081.4(CUBN):c.7534-1G>T
|
rs1588639188
|
|
NM_001081.4(CUBN):c.8063-1G>A
|
|
|
NM_001081.4(CUBN):c.8755+2T>C
|
|
|
NM_001081.4(CUBN):c.884-1G>A
|
|
|
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter)
|
rs386833791
|
|
NM_001081.4(CUBN):c.9237-1G>C
|
|
|
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter)
|
rs1564379463
|
|
NM_030943.4(AMN):c.1006+16_1006+30del
|
rs386834160
|
|
NM_030943.4(AMN):c.1006+34_1007-31del
|
rs386834161
|
|
NM_030943.4(AMN):c.1006+36_1007-29del
|
rs386834162
|
|
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs)
|
rs386834163
|
|
NM_030943.4(AMN):c.1169+2T>C
|
|
|
NM_030943.4(AMN):c.1170-1G>C
|
|
|
NM_030943.4(AMN):c.1253dup (p.Leu419fs)
|
rs386834165
|
|
NM_030943.4(AMN):c.1314_1315del (p.His438fs)
|
rs386834167
|
|
NM_030943.4(AMN):c.138_162+20del
|
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.207+1G>A
|
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
NM_030943.4(AMN):c.295+1del
|
rs386834171
|
|
NM_030943.4(AMN):c.296-1G>A
|
|
|
NM_030943.4(AMN):c.43+1G>T
|
rs386834172
|
|
NM_030943.4(AMN):c.44-1G>A
|
|
|
NM_030943.4(AMN):c.44-2A>T
|
|
|
NM_030943.4(AMN):c.468dup (p.Gly157fs)
|
rs386834173
|
|
NM_030943.4(AMN):c.513+2T>C
|
|
|
NM_030943.4(AMN):c.513+2del
|
|
|
NM_030943.4(AMN):c.514-34G>A
|
rs144077391
|
|
NM_030943.4(AMN):c.651+1G>T
|
|
|
NM_030943.4(AMN):c.652-2A>G
|
|
|
NM_030943.4(AMN):c.663G>A (p.Trp221Ter)
|
rs386834174
|
|
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del)
|
rs386834175
|
|
NM_030943.4(AMN):c.701G>T (p.Cys234Phe)
|
rs386834176
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_030943.4(AMN):c.760+1G>A
|
rs1555381485
|
|
NM_030943.4(AMN):c.761G>A (p.Gly254Glu)
|
rs386834178
|
|
NM_030943.4(AMN):c.974_977dup (p.Ala327fs)
|
rs386834179
|
|