NM_030943.4(AMN):c.1170-6C>T
|
rs386834164
|
0.00296
|
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
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_030943.4(AMN):c.1257+10C>T
|
rs386834166
|
0.00001
|
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.2949C>A (p.Tyr983Ter)
|
rs386833779
|
|
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter)
|
rs386833780
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
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.3999C>A (p.Cys1333Ter)
|
rs386833785
|
|
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg)
|
rs386833786
|
|
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu)
|
rs386833788
|
|
NM_001081.4(CUBN):c.489G>A (p.Lys163=)
|
rs386833789
|
|
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser)
|
rs386833790
|
|
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter)
|
rs386833791
|
|
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.1253dup (p.Leu419fs)
|
rs386834165
|
|
NM_030943.4(AMN):c.1314_1315del (p.His438fs)
|
rs386834167
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
NM_030943.4(AMN):c.295+1del
|
rs386834171
|
|
NM_030943.4(AMN):c.43+1G>T
|
rs386834172
|
|
NM_030943.4(AMN):c.468dup (p.Gly157fs)
|
rs386834173
|
|
NM_030943.4(AMN):c.514-34G>A
|
rs144077391
|
|
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.761G>A (p.Gly254Glu)
|
rs386834178
|
|
NM_030943.4(AMN):c.974_977dup (p.Ala327fs)
|
rs386834179
|
|