NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val)
|
rs111265129
|
0.01345
|
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn)
|
rs138083522
|
0.00756
|
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu)
|
rs117128556
|
0.00569
|
NM_030943.4(AMN):c.773T>C (p.Leu258Ser)
|
rs190222721
|
0.00544
|
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp)
|
rs144360241
|
0.00541
|
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)
|
rs148869805
|
0.00464
|
NM_001081.4(CUBN):c.2791+9_2791+16del
|
rs375796983
|
0.00423
|
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser)
|
rs142581908
|
0.00371
|
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=)
|
rs141937843
|
0.00363
|
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=)
|
rs140184467
|
0.00358
|
NM_030943.4(AMN):c.208-10T>C
|
rs115851517
|
0.00345
|
NM_001081.4(CUBN):c.*769G>A
|
rs149618660
|
0.00335
|
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile)
|
rs145872906
|
0.00305
|
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val)
|
rs76789390
|
0.00304
|
NM_001081.4(CUBN):c.2103A>G (p.Thr701=)
|
rs143693723
|
0.00290
|
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=)
|
rs144472791
|
0.00255
|
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)
|
rs138545198
|
0.00253
|
NM_001081.4(CUBN):c.1470G>A (p.Pro490=)
|
rs143255616
|
0.00243
|
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu)
|
rs147752521
|
0.00217
|
NM_001081.4(CUBN):c.1530+12A>C
|
rs138936163
|
0.00212
|
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)
|
rs147449194
|
0.00181
|
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)
|
rs115888073
|
0.00169
|
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=)
|
rs150663813
|
0.00159
|
NM_030943.4(AMN):c.1137G>T (p.Ala379=)
|
rs533317064
|
0.00159
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_001081.4(CUBN):c.6142C>G (p.Gln2048Glu)
|
rs146995189
|
0.00143
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_001081.4(CUBN):c.349-8A>G
|
rs188559699
|
0.00129
|
NM_030943.4(AMN):c.57G>T (p.Ala19=)
|
rs145328398
|
0.00118
|
NM_030943.4(AMN):c.1169+11C>G
|
rs764673271
|
0.00115
|
NM_001081.4(CUBN):c.6673G>C (p.Asp2225His)
|
rs140862613
|
0.00111
|
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)
|
rs201001705
|
0.00105
|
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)
|
rs147330179
|
0.00104
|
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=)
|
rs140524729
|
0.00091
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_030943.4(AMN):c.844-3C>T
|
rs145519816
|
0.00088
|
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)
|
rs182512508
|
0.00086
|
NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg)
|
rs141489700
|
0.00083
|
NM_001081.4(CUBN):c.7210+9A>G
|
rs117711403
|
0.00081
|
NM_001081.4(CUBN):c.5733+16C>T
|
rs139579256
|
0.00080
|
NM_030943.4(AMN):c.275C>T (p.Ser92Leu)
|
rs144707331
|
0.00079
|
NM_001081.4(CUBN):c.3G>T (p.Met1Ile)
|
rs11254385
|
0.00076
|
NM_001081.4(CUBN):c.2110+18T>C
|
rs117028815
|
0.00075
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe)
|
rs141819241
|
0.00063
|
NM_001081.4(CUBN):c.8410+18T>C
|
rs186604664
|
0.00059
|
NM_030943.4(AMN):c.835C>T (p.Leu279=)
|
rs371426960
|
0.00056
|
NM_001081.4(CUBN):c.2016G>A (p.Pro672=)
|
rs148107237
|
0.00052
|
NM_030943.4(AMN):c.63C>T (p.Ser21=)
|
rs150802428
|
0.00051
|
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)
|
rs148976047
|
0.00044
|
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln)
|
rs143400113
|
0.00041
|
NM_001081.4(CUBN):c.9826+15G>A
|
rs369467797
|
0.00040
|
NM_001081.4(CUBN):c.9236+8A>G
|
rs372673718
|
0.00038
|
NM_030943.4(AMN):c.735C>T (p.Pro245=)
|
rs546245909
|
0.00038
|
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=)
|
rs182162293
|
0.00035
|
NM_001081.4(CUBN):c.7533+17G>A
|
rs374394291
|
0.00035
|
NM_001081.4(CUBN):c.5424G>T (p.Val1808=)
|
rs148649437
|
0.00032
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
|
rs150985118
|
0.00031
|
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)
|
rs370784621
|
0.00031
|
NM_030943.4(AMN):c.909C>T (p.Ala303=)
|
rs373382273
|
0.00031
|
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=)
|
rs113941731
|
0.00030
|
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)
|
rs140160866
|
0.00030
|
NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)
|
rs151134377
|
0.00029
|
NM_030943.4(AMN):c.1258-14C>G
|
rs767004707
|
0.00029
|
NM_001081.4(CUBN):c.9664-9T>G
|
rs145383974
|
0.00028
|
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
|
rs191787640
|
0.00027
|
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu)
|
rs200537125
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.9927C>G (p.Val3309=)
|
rs202234356
|
0.00024
|
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=)
|
rs189314395
|
0.00022
|
NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu)
|
rs140983139
|
0.00021
|
NM_001081.4(CUBN):c.813C>T (p.Pro271=)
|
rs139348777
|
0.00021
|
NM_001081.4(CUBN):c.9455-13T>C
|
rs374390875
|
0.00021
|
NM_001081.4(CUBN):c.10038C>T (p.His3346=)
|
rs113079734
|
0.00019
|
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
|
rs1266678482
|
0.00019
|
NM_001081.4(CUBN):c.5926+5G>A
|
rs143301088
|
0.00019
|
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)
|
rs149802222
|
0.00019
|
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)
|
rs139990077
|
0.00019
|
NM_001081.4(CUBN):c.349-9T>C
|
rs375431948
|
0.00018
|
NM_030943.4(AMN):c.989C>A (p.Ala330Glu)
|
rs542237999
|
0.00018
|
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)
|
rs376536525
|
0.00017
|
NM_001081.4(CUBN):c.7000+15A>T
|
rs556690868
|
0.00017
|
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
|
rs200115233
|
0.00016
|
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=)
|
rs149569558
|
0.00016
|
NM_030943.4(AMN):c.1343G>A (p.Gly448Glu)
|
rs777560818
|
0.00016
|
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=)
|
rs750798030
|
0.00015
|
NM_001081.4(CUBN):c.*266C>T
|
rs374059721
|
0.00014
|
NM_001081.4(CUBN):c.1112-12A>G
|
rs762175932
|
0.00014
|
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met)
|
rs141420691
|
0.00014
|
NM_001081.4(CUBN):c.2922C>T (p.Phe974=)
|
rs201802902
|
0.00014
|
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=)
|
rs370685424
|
0.00014
|
NM_030943.4(AMN):c.1086G>A (p.Ala362=)
|
rs959195796
|
0.00014
|
NM_030943.4(AMN):c.603C>A (p.Gly201=)
|
rs535197788
|
0.00014
|
NM_001081.4(CUBN):c.1236T>C (p.Thr412=)
|
rs201404467
|
0.00012
|
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
|
rs139051724
|
0.00011
|
NM_001081.4(CUBN):c.1926C>T (p.Asp642=)
|
rs201938886
|
0.00011
|
NM_001081.4(CUBN):c.1947+18G>A
|
rs374436643
|
0.00011
|
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
|
rs370581324
|
0.00011
|
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)
|
rs200124646
|
0.00011
|
NM_030943.4(AMN):c.93C>T (p.Asp31=)
|
rs772599857
|
0.00011
|
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg)
|
rs201484266
|
0.00010
|
NM_001081.4(CUBN):c.3084C>T (p.Ser1028=)
|
rs775668389
|
0.00010
|
NM_001081.4(CUBN):c.516C>T (p.Asn172=)
|
rs576450214
|
0.00010
|
NM_001081.4(CUBN):c.7000+14T>A
|
rs768710639
|
0.00010
|
NM_001081.4(CUBN):c.7211-17T>C
|
rs770229291
|
0.00010
|
NM_001081.4(CUBN):c.7299C>T (p.Asp2433=)
|
rs201002903
|
0.00010
|
NM_001081.4(CUBN):c.1111+5T>C
|
rs199662739
|
0.00009
|
NM_001081.4(CUBN):c.2961C>T (p.Asn987=)
|
rs148712017
|
0.00009
|
NM_001081.4(CUBN):c.3672+18A>C
|
rs752240965
|
0.00009
|
NM_030943.4(AMN):c.345G>A (p.Pro115=)
|
rs749947054
|
0.00009
|
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)
|
rs200977290
|
0.00008
|
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
|
rs144942741
|
0.00008
|
NM_030943.4(AMN):c.1258-8C>T
|
rs750073599
|
0.00008
|
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
|
rs147772422
|
0.00007
|
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)
|
rs138758085
|
0.00007
|
NM_030943.4(AMN):c.841C>T (p.Leu281=)
|
rs569327877
|
0.00007
|
NM_001081.4(CUBN):c.348+10A>G
|
rs373954000
|
0.00006
|
NM_001081.4(CUBN):c.5210-7C>G
|
rs760324864
|
0.00006
|
NM_001081.4(CUBN):c.735C>T (p.Cys245=)
|
rs766772944
|
0.00006
|
NM_001081.4(CUBN):c.8613T>G (p.Thr2871=)
|
rs775837120
|
0.00006
|
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
|
rs142466038
|
0.00006
|
NM_030943.4(AMN):c.45A>C (p.Ala15=)
|
rs753339887
|
0.00006
|
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)
|
rs199763912
|
0.00005
|
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=)
|
rs768720429
|
0.00005
|
NM_001081.4(CUBN):c.7300G>A (p.Gly2434Ser)
|
rs144565631
|
0.00005
|
NM_001081.4(CUBN):c.7470C>T (p.Ile2490=)
|
rs779269108
|
0.00005
|
NM_001081.4(CUBN):c.7899C>T (p.Leu2633=)
|
rs751019710
|
0.00005
|
NM_001081.4(CUBN):c.9315C>T (p.Ser3105=)
|
rs376662992
|
0.00005
|
NM_030943.4(AMN):c.175C>T (p.Leu59=)
|
rs199629027
|
0.00005
|
NM_001081.4(CUBN):c.2013A>G (p.Pro671=)
|
rs137892259
|
0.00004
|
NM_001081.4(CUBN):c.2256C>T (p.His752=)
|
rs140150973
|
0.00004
|
NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys)
|
rs199835213
|
0.00004
|
NM_001081.4(CUBN):c.3672+20C>T
|
rs762191994
|
0.00004
|
NM_001081.4(CUBN):c.5223G>A (p.Thr1741=)
|
rs375723034
|
0.00004
|
NM_001081.4(CUBN):c.5549-5C>T
|
rs377583171
|
0.00004
|
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=)
|
rs539618523
|
0.00004
|
NM_001081.4(CUBN):c.6462+19C>G
|
rs372356491
|
0.00004
|
NM_001081.4(CUBN):c.6822-6C>T
|
rs762758607
|
0.00004
|
NM_001081.4(CUBN):c.7001-4G>A
|
rs886046871
|
0.00004
|
NM_001081.4(CUBN):c.7107G>A (p.Gly2369=)
|
rs145537365
|
0.00004
|
NM_001081.4(CUBN):c.8599-8C>T
|
rs199774490
|
0.00004
|
NM_001081.4(CUBN):c.885C>T (p.Gly295=)
|
rs776211726
|
0.00004
|
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)
|
rs199499934
|
0.00004
|
NM_030943.4(AMN):c.1176G>A (p.Arg392=)
|
rs1052377523
|
0.00004
|
NM_030943.4(AMN):c.123C>G (p.Thr41=)
|
rs758005290
|
0.00004
|
NM_001081.4(CUBN):c.*380T>C
|
rs188873973
|
0.00003
|
NM_001081.4(CUBN):c.10710A>G (p.Thr3570=)
|
rs756639822
|
0.00003
|
NM_001081.4(CUBN):c.10845C>T (p.Ser3615=)
|
rs146137990
|
0.00003
|
NM_001081.4(CUBN):c.387+13C>T
|
rs766779196
|
0.00003
|
NM_001081.4(CUBN):c.4169-16C>T
|
rs779680778
|
0.00003
|
NM_001081.4(CUBN):c.4773C>T (p.Val1591=)
|
rs368529044
|
0.00003
|
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=)
|
rs199509575
|
0.00003
|
NM_001081.4(CUBN):c.5877G>A (p.Glu1959=)
|
rs368934375
|
0.00003
|
NM_001081.4(CUBN):c.6195T>C (p.Thr2065=)
|
rs758743854
|
0.00003
|
NM_001081.4(CUBN):c.7026G>A (p.Gly2342=)
|
rs370800945
|
0.00003
|
NM_001081.4(CUBN):c.8493T>C (p.Cys2831=)
|
rs748450206
|
0.00003
|
NM_001081.4(CUBN):c.9897A>G (p.Pro3299=)
|
rs143405367
|
0.00003
|
NM_030943.4(AMN):c.1179G>A (p.Arg393=)
|
rs1434288624
|
0.00003
|
NM_001081.4(CUBN):c.1765+9G>A
|
rs780944597
|
0.00002
|
NM_001081.4(CUBN):c.4206C>T (p.Phe1402=)
|
rs563089365
|
0.00002
|
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
|
rs371508247
|
0.00002
|
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=)
|
rs199868206
|
0.00002
|
NM_001081.4(CUBN):c.7218C>A (p.Ile2406=)
|
rs369069102
|
0.00002
|
NM_001081.4(CUBN):c.7534-5A>G
|
rs769047632
|
0.00002
|
NM_001081.4(CUBN):c.10530A>T (p.Gly3510=)
|
rs376007864
|
0.00001
|
NM_001081.4(CUBN):c.1111+12T>A
|
rs772358097
|
0.00001
|
NM_001081.4(CUBN):c.1350C>T (p.Gly450=)
|
rs770827241
|
0.00001
|
NM_001081.4(CUBN):c.1531-8A>G
|
rs776677485
|
0.00001
|
NM_001081.4(CUBN):c.1644T>C (p.Phe548=)
|
rs559998744
|
0.00001
|
NM_001081.4(CUBN):c.1704C>G (p.Leu568=)
|
rs752698463
|
0.00001
|
NM_001081.4(CUBN):c.2446+18T>C
|
rs756171220
|
0.00001
|
NM_001081.4(CUBN):c.2997A>G (p.Thr999=)
|
rs762336429
|
0.00001
|
NM_001081.4(CUBN):c.3639G>A (p.Glu1213=)
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rs1479997421
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0.00001
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NM_001081.4(CUBN):c.4018-14C>A
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rs376137878
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0.00001
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NM_001081.4(CUBN):c.4696-18C>G
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rs745926280
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0.00001
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NM_001081.4(CUBN):c.4959G>A (p.Ala1653=)
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rs577984421
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0.00001
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NM_001081.4(CUBN):c.5469C>T (p.Ile1823=)
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rs754694753
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0.00001
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NM_001081.4(CUBN):c.5556C>T (p.Gly1852=)
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rs1459051392
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0.00001
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NM_001081.4(CUBN):c.5709A>G (p.Gln1903=)
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rs1305422200
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0.00001
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NM_001081.4(CUBN):c.5757C>T (p.His1919=)
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rs79184887
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0.00001
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NM_001081.4(CUBN):c.6048C>T (p.Thr2016=)
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rs770723197
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NM_001081.4(CUBN):c.6366C>A (p.Val2122=)
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rs774532398
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0.00001
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NM_001081.4(CUBN):c.6821+20A>G
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rs753314241
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0.00001
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NM_001081.4(CUBN):c.720+12C>A
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rs888514621
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0.00001
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rs1199891308
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0.00001
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NM_001081.4(CUBN):c.795C>T (p.Asp265=)
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rs777864127
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NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)
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rs373893072
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rs201227730
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rs140586269
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rs377526677
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0.00001
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NM_001081.4(CUBN):c.9237-10C>T
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rs768128551
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rs754292924
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rs750580951
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rs1410658337
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0.00001
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NM_030943.4(AMN):c.207+9G>A
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rs765056352
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0.00001
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NM_030943.4(AMN):c.296-10T>C
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rs1229295738
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0.00001
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rs1388154450
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NM_030943.4(AMN):c.760+10C>T
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rs1312771036
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0.00001
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NM_030943.4(AMN):c.969G>A (p.Arg323=)
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rs899760936
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0.00001
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NM_001081.4(CUBN):c.*330G>A
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rs181630914
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NM_001081.4(CUBN):c.*330G>C
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rs181630914
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NM_001081.4(CUBN):c.*420C>T
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rs182278265
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NM_001081.4(CUBN):c.10011A>G (p.Leu3337=)
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NM_001081.4(CUBN):c.10032+9T>C
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NM_001081.4(CUBN):c.10033-15C>T
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NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
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NM_001081.4(CUBN):c.1016-14C>T
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NM_001081.4(CUBN):c.1016-18G>A
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NM_001081.4(CUBN):c.10266C>T (p.Thr3422=)
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NM_001081.4(CUBN):c.10425A>G (p.Pro3475=)
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NM_001081.4(CUBN):c.10458C>T (p.Tyr3486=)
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NM_001081.4(CUBN):c.1047C>T (p.Leu349=)
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NM_001081.4(CUBN):c.10644T>A (p.Leu3548=)
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NM_001081.4(CUBN):c.10764+11C>T
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NM_001081.4(CUBN):c.10765-18T>A
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NM_001081.4(CUBN):c.1088A>C (p.Asp363Ala)
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NM_001081.4(CUBN):c.1088A>G (p.Asp363Gly)
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rs138044409
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NM_001081.4(CUBN):c.1111+11A>G
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NM_001081.4(CUBN):c.122+14T>C
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NM_001081.4(CUBN):c.123-16C>T
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rs2281648
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NM_001081.4(CUBN):c.1418-16A>T
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NM_001081.4(CUBN):c.1530+14C>A
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NM_001081.4(CUBN):c.1662T>A (p.Pro554=)
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NM_001081.4(CUBN):c.1766-10C>G
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rs2131869671
|
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NM_001081.4(CUBN):c.1766-14C>T
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NM_001081.4(CUBN):c.1833C>T (p.Pro611=)
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|
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NM_001081.4(CUBN):c.1953A>C (p.Arg651=)
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NM_001081.4(CUBN):c.2110+10C>A
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|
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NM_001081.4(CUBN):c.2111-5C>T
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NM_001081.4(CUBN):c.2157C>G (p.Leu719=)
|
rs2131863775
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rs1836051485
|
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rs1371114573
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NM_001081.4(CUBN):c.2446+14_2446+15del
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rs752528712
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NM_001081.4(CUBN):c.2447-9T>C
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NM_001081.4(CUBN):c.253-16C>A
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NM_001081.4(CUBN):c.2632A>G (p.Ser878Gly)
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rs563114115
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NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
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rs386833778
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NM_001081.4(CUBN):c.2763C>T (p.Phe921=)
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NM_001081.4(CUBN):c.2791+16dup
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NM_001081.4(CUBN):c.2791+19T>C
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NM_001081.4(CUBN):c.2793A>G (p.Ala931=)
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NM_001081.4(CUBN):c.2796T>C (p.Cys932=)
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NM_001081.4(CUBN):c.2829T>C (p.Ile943=)
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NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser)
|
rs200851536
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NM_001081.4(CUBN):c.3024G>A (p.Ser1008=)
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NM_001081.4(CUBN):c.3027C>T (p.Ile1009=)
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NM_001081.4(CUBN):c.3058T>C (p.Leu1020=)
|
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NM_001081.4(CUBN):c.3105C>T (p.Phe1035=)
|
rs2131842230
|
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NM_001081.4(CUBN):c.312A>G (p.Gln104=)
|
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NM_001081.4(CUBN):c.3139+15T>C
|
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NM_001081.4(CUBN):c.3329+12_3329+16del
|
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NM_001081.4(CUBN):c.3329+8C>A
|
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NM_001081.4(CUBN):c.3447C>T (p.Asp1149=)
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NM_001081.4(CUBN):c.3477T>C (p.Asp1159=)
|
rs2131820566
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NM_001081.4(CUBN):c.349-13T>G
|
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NM_001081.4(CUBN):c.3490+16C>G
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NM_001081.4(CUBN):c.3531A>T (p.Ile1177=)
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NM_001081.4(CUBN):c.3570A>G (p.Glu1190=)
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NM_001081.4(CUBN):c.3603C>T (p.Ser1201=)
|
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NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)
|
rs141740096
|
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NM_001081.4(CUBN):c.3672+17C>T
|
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NM_001081.4(CUBN):c.3783A>G (p.Thr1261=)
|
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NM_001081.4(CUBN):c.3823C>A (p.Arg1275=)
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NM_001081.4(CUBN):c.3830-15C>T
|
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NM_001081.4(CUBN):c.387+11dup
|
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NM_001081.4(CUBN):c.387+16C>T
|
rs766616600
|
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NM_001081.4(CUBN):c.3927C>A (p.Thr1309=)
|
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NM_001081.4(CUBN):c.4104G>T (p.Val1368=)
|
rs1480495431
|
|
NM_001081.4(CUBN):c.4168+17T>A
|
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NM_001081.4(CUBN):c.4169-13del
|
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NM_001081.4(CUBN):c.4169-15T>C
|
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NM_001081.4(CUBN):c.4169-17C>A
|
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NM_001081.4(CUBN):c.4169-18A>G
|
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NM_001081.4(CUBN):c.4212C>T (p.Ser1404=)
|
rs544694254
|
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NM_001081.4(CUBN):c.4269G>A (p.Thr1423=)
|
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NM_001081.4(CUBN):c.4302T>C (p.His1434=)
|
rs2131715844
|
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NM_001081.4(CUBN):c.4308C>T (p.Phe1436=)
|
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NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001081.4(CUBN):c.4350+8G>A
|
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NM_001081.4(CUBN):c.4362C>G (p.Gly1454=)
|
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NM_001081.4(CUBN):c.4461A>T (p.Arg1487=)
|
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NM_001081.4(CUBN):c.4526-10C>T
|
|
|
NM_001081.4(CUBN):c.4526-9C>A
|
rs752803274
|
|
NM_001081.4(CUBN):c.4668T>C (p.Asp1556=)
|
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|
NM_001081.4(CUBN):c.4806G>A (p.Gln1602=)
|
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|
NM_001081.4(CUBN):c.4815T>C (p.Pro1605=)
|
rs1588515934
|
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NM_001081.4(CUBN):c.4855+20T>C
|
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NM_001081.4(CUBN):c.4856-13G>C
|
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|
NM_001081.4(CUBN):c.4856-16T>C
|
rs2131629888
|
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NM_001081.4(CUBN):c.4869C>T (p.His1623=)
|
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NM_001081.4(CUBN):c.489+14T>C
|
rs886046882
|
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NM_001081.4(CUBN):c.490-8G>A
|
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NM_001081.4(CUBN):c.4970-16C>T
|
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NM_001081.4(CUBN):c.5022G>A (p.Thr1674=)
|
rs528059511
|
|
NM_001081.4(CUBN):c.5070G>A (p.Ala1690=)
|
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NM_001081.4(CUBN):c.5080+11G>A
|
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NM_001081.4(CUBN):c.5080+9_5080+19del
|
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NM_001081.4(CUBN):c.5307C>T (p.Val1769=)
|
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NM_001081.4(CUBN):c.5342+20G>A
|
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NM_001081.4(CUBN):c.5343-10C>T
|
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NM_001081.4(CUBN):c.5343-11C>T
|
rs777975604
|
|
NM_001081.4(CUBN):c.5343-7dup
|
rs754346653
|
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NM_001081.4(CUBN):c.5412G>A (p.Thr1804=)
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NM_001081.4(CUBN):c.5733+15G>A
|
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NM_001081.4(CUBN):c.5733+9C>T
|
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NM_001081.4(CUBN):c.5871T>C (p.Leu1957=)
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NM_001081.4(CUBN):c.5890G>A (p.Asp1964Asn)
|
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NM_001081.4(CUBN):c.5904T>A (p.Gly1968=)
|
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NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr)
|
rs2356590
|
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NM_001081.4(CUBN):c.5927-14T>C
|
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NM_001081.4(CUBN):c.5927-19G>A
|
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NM_001081.4(CUBN):c.5931T>C (p.Ala1977=)
|
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NM_001081.4(CUBN):c.594-16C>T
|
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NM_001081.4(CUBN):c.594-18C>T
|
rs1836875187
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NM_001081.4(CUBN):c.5973C>T (p.Leu1991=)
|
|
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NM_001081.4(CUBN):c.5979C>T (p.Ser1993=)
|
rs2131594919
|
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NM_001081.4(CUBN):c.5982G>C (p.Pro1994=)
|
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NM_001081.4(CUBN):c.5985C>A (p.Gly1995=)
|
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|
NM_001081.4(CUBN):c.6093G>A (p.Thr2031=)
|
rs141470763
|
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NM_001081.4(CUBN):c.6114G>C (p.Val2038=)
|
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NM_001081.4(CUBN):c.6118C>A (p.Arg2040=)
|
rs770636895
|
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NM_001081.4(CUBN):c.6125-4G>A
|
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NM_001081.4(CUBN):c.615G>T (p.Thr205=)
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NM_001081.4(CUBN):c.6201G>A (p.Glu2067=)
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NM_001081.4(CUBN):c.6261C>T (p.Ser2087=)
|
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NM_001081.4(CUBN):c.6271+12A>G
|
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NM_001081.4(CUBN):c.6272-8G>C
|
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NM_001081.4(CUBN):c.6276C>T (p.Cys2092=)
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rs146319349
|
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NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)
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NM_001081.4(CUBN):c.6318C>T (p.Pro2106=)
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NM_001081.4(CUBN):c.6363C>T (p.His2121=)
|
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NM_001081.4(CUBN):c.645C>T (p.Asp215=)
|
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NM_001081.4(CUBN):c.6462+7C>T
|
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|
NM_001081.4(CUBN):c.6463-4C>G
|
rs2131581949
|
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NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)
|
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NM_001081.4(CUBN):c.6504C>A (p.Pro2168=)
|
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NM_001081.4(CUBN):c.6630T>C (p.Tyr2210=)
|
rs2131479100
|
|
NM_001081.4(CUBN):c.6646+18G>T
|
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NM_001081.4(CUBN):c.6647-19T>C
|
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NM_001081.4(CUBN):c.6696G>A (p.Val2232=)
|
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NM_001081.4(CUBN):c.66T>C (p.Asn22=)
|
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NM_001081.4(CUBN):c.6864G>A (p.Ser2288=)
|
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NM_001081.4(CUBN):c.6906C>A (p.Pro2302=)
|
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NM_001081.4(CUBN):c.69C>T (p.Gly23=)
|
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NM_001081.4(CUBN):c.7000+7A>T
|
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NM_001081.4(CUBN):c.7001-19T>C
|
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|
NM_001081.4(CUBN):c.7005G>A (p.Gln2335=)
|
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NM_001081.4(CUBN):c.7179C>T (p.Asp2393=)
|
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NM_001081.4(CUBN):c.7182C>T (p.Phe2394=)
|
|
|
NM_001081.4(CUBN):c.720+20G>A
|
|
|
NM_001081.4(CUBN):c.720+8C>T
|
|
|
NM_001081.4(CUBN):c.7346T>G (p.Met2449Arg)
|
rs41301097
|
|
NM_001081.4(CUBN):c.7352-6C>T
|
|
|
NM_001081.4(CUBN):c.7386A>G (p.Thr2462=)
|
|
|
NM_001081.4(CUBN):c.7509G>C (p.Pro2503=)
|
rs201001705
|
|
NM_001081.4(CUBN):c.7530G>A (p.Val2510=)
|
|
|
NM_001081.4(CUBN):c.7533+16C>T
|
|
|
NM_001081.4(CUBN):c.7557C>T (p.Asn2519=)
|
rs1588639145
|
|
NM_001081.4(CUBN):c.7593T>C (p.Asn2531=)
|
|
|
NM_001081.4(CUBN):c.7705+9G>A
|
|
|
NM_001081.4(CUBN):c.7716G>A (p.Gly2572=)
|
|
|
NM_001081.4(CUBN):c.7725A>C (p.Pro2575=)
|
|
|
NM_001081.4(CUBN):c.783G>A (p.Thr261=)
|
rs770878354
|
|
NM_001081.4(CUBN):c.783G>T (p.Thr261=)
|
|
|
NM_001081.4(CUBN):c.7875C>T (p.His2625=)
|
|
|
NM_001081.4(CUBN):c.7884T>C (p.Cys2628=)
|
|
|
NM_001081.4(CUBN):c.7912+14A>G
|
|
|
NM_001081.4(CUBN):c.7929C>T (p.Pro2643=)
|
|
|
NM_001081.4(CUBN):c.7944T>C (p.Leu2648=)
|
|
|
NM_001081.4(CUBN):c.8062+15T>C
|
|
|
NM_001081.4(CUBN):c.8062+8T>C
|
|
|
NM_001081.4(CUBN):c.8185-10T>C
|
|
|
NM_001081.4(CUBN):c.8283A>G (p.Gly2761=)
|
|
|
NM_001081.4(CUBN):c.828A>T (p.Thr276=)
|
|
|
NM_001081.4(CUBN):c.8410+16G>T
|
|
|
NM_001081.4(CUBN):c.8527T>C (p.Leu2843=)
|
|
|
NM_001081.4(CUBN):c.8535C>A (p.Ile2845=)
|
|
|
NM_001081.4(CUBN):c.8547C>T (p.Asn2849=)
|
|
|
NM_001081.4(CUBN):c.8592C>T (p.Phe2864=)
|
|
|
NM_001081.4(CUBN):c.8598+18T>C
|
rs1841276791
|
|
NM_001081.4(CUBN):c.8655C>T (p.Asn2885=)
|
|
|
NM_001081.4(CUBN):c.8691A>T (p.Thr2897=)
|
|
|
NM_001081.4(CUBN):c.8715G>A (p.Gln2905=)
|
|
|
NM_001081.4(CUBN):c.873C>T (p.Ala291=)
|
|
|
NM_001081.4(CUBN):c.8742G>A (p.Ala2914=)
|
|
|
NM_001081.4(CUBN):c.8756-18C>A
|
|
|
NM_001081.4(CUBN):c.87G>A (p.Glu29=)
|
|
|
NM_001081.4(CUBN):c.8811A>G (p.Pro2937=)
|
|
|
NM_001081.4(CUBN):c.884-8T>C
|
|
|
NM_001081.4(CUBN):c.8906-13dup
|
|
|
NM_001081.4(CUBN):c.8906-9C>T
|
|
|
NM_001081.4(CUBN):c.8934C>G (p.Val2978=)
|
|
|
NM_001081.4(CUBN):c.8937C>T (p.Asn2979=)
|
|
|
NM_001081.4(CUBN):c.9054C>T (p.Tyr3018=)
|
|
|
NM_001081.4(CUBN):c.9165C>T (p.Tyr3055=)
|
|
|
NM_001081.4(CUBN):c.9207C>T (p.Thr3069=)
|
rs117936668
|
|
NM_001081.4(CUBN):c.9216C>T (p.Asp3072=)
|
|
|
NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)
|
|
|
NM_001081.4(CUBN):c.9237-6T>A
|
|
|
NM_001081.4(CUBN):c.9255G>A (p.Val3085=)
|
|
|
NM_001081.4(CUBN):c.9324T>A (p.Leu3108=)
|
|
|
NM_001081.4(CUBN):c.9339C>T (p.Cys3113=)
|
|
|
NM_001081.4(CUBN):c.9408A>G (p.Ser3136=)
|
rs2131367704
|
|
NM_001081.4(CUBN):c.9454+19T>G
|
|
|
NM_001081.4(CUBN):c.9456G>A (p.Gly3152=)
|
|
|
NM_001081.4(CUBN):c.9600C>T (p.Thr3200=)
|
|
|
NM_001081.4(CUBN):c.9663+13T>C
|
|
|
NM_001081.4(CUBN):c.9663+7C>T
|
|
|
NM_001081.4(CUBN):c.9664-16T>G
|
rs2131320788
|
|
NM_001081.4(CUBN):c.9664-20T>C
|
|
|
NM_001081.4(CUBN):c.9664-8del
|
|
|
NM_001081.4(CUBN):c.9666A>G (p.Leu3222=)
|
|
|
NM_001081.4(CUBN):c.9690G>A (p.Ala3230=)
|
|
|
NM_001081.4(CUBN):c.9694T>C (p.Leu3232=)
|
|
|
NM_001081.4(CUBN):c.9786A>G (p.Leu3262=)
|
|
|
NM_001081.4(CUBN):c.9810A>G (p.Thr3270=)
|
|
|
NM_001081.4(CUBN):c.981A>G (p.Thr327=)
|
|
|
NM_001081.4(CUBN):c.9826+13A>G
|
|
|
NM_001081.4(CUBN):c.9827-20G>A
|
|
|
NM_001081.4(CUBN):c.9843A>C (p.Thr3281=)
|
|
|
NM_001081.4(CUBN):c.9855T>C (p.Thr3285=)
|
|
|
NM_001081.4(CUBN):c.9876A>G (p.Ser3292=)
|
|
|
NM_001081.4(CUBN):c.9903C>T (p.Val3301=)
|
|
|
NM_001081.4(CUBN):c.9942G>A (p.Pro3314=)
|
rs375963302
|
|
NM_001081.4(CUBN):c.9999G>A (p.Thr3333=)
|
|
|
NM_030943.4(AMN):c.1002G>A (p.Glu334=)
|
|
|
NM_030943.4(AMN):c.1006+12C>G
|
|
|
NM_030943.4(AMN):c.1006+12_1006+35dup
|
|
|
NM_030943.4(AMN):c.1006+13G>A
|
|
|
NM_030943.4(AMN):c.1006+14C>T
|
|
|
NM_030943.4(AMN):c.1006+18_1006+27del
|
|
|
NM_030943.4(AMN):c.1006+23_1006+36del
|
|
|
NM_030943.4(AMN):c.1006+27C>T
|
|
|
NM_030943.4(AMN):c.1006+28G>T
|
|
|
NM_030943.4(AMN):c.1006+33G>A
|
|
|
NM_030943.4(AMN):c.1006+33G>T
|
|
|
NM_030943.4(AMN):c.1006+36_1007-34dup
|
|
|
NM_030943.4(AMN):c.1006+8C>A
|
|
|
NM_030943.4(AMN):c.1006+9G>A
|
|
|
NM_030943.4(AMN):c.1006+9G>T
|
|
|
NM_030943.4(AMN):c.1007-11C>G
|
|
|
NM_030943.4(AMN):c.1007-11C>T
|
|
|
NM_030943.4(AMN):c.1007-13C>T
|
|
|
NM_030943.4(AMN):c.1007-14C>T
|
|
|
NM_030943.4(AMN):c.1007-15G>A
|
|
|
NM_030943.4(AMN):c.1007-16G>A
|
|
|
NM_030943.4(AMN):c.1007-29G>C
|
|
|
NM_030943.4(AMN):c.1007-30G>C
|
|
|
NM_030943.4(AMN):c.1007-30G>T
|
|
|
NM_030943.4(AMN):c.1007-31G>C
|
|
|
NM_030943.4(AMN):c.1007-31_1007-30insCC
|
|
|
NM_030943.4(AMN):c.1007-32C>T
|
|
|
NM_030943.4(AMN):c.1007-33G>T
|
|
|
NM_030943.4(AMN):c.1007-34del
|
|
|
NM_030943.4(AMN):c.1007-38_1007-34dup
|
|
|
NM_030943.4(AMN):c.1007-4G>A
|
|
|
NM_030943.4(AMN):c.1007-7G>A
|
|
|
NM_030943.4(AMN):c.1007-9C>T
|
|
|
NM_030943.4(AMN):c.1008C>A (p.Gly336=)
|
|
|
NM_030943.4(AMN):c.1011G>A (p.Glu337=)
|
|
|
NM_030943.4(AMN):c.1014C>A (p.Ala338=)
|
|
|
NM_030943.4(AMN):c.1017C>A (p.Leu339=)
|
rs1230984626
|
|
NM_030943.4(AMN):c.1020C>T (p.Gly340=)
|
|
|
NM_030943.4(AMN):c.1029G>A (p.Glu343=)
|
|
|
NM_030943.4(AMN):c.1039C>A (p.Arg347=)
|
|
|
NM_030943.4(AMN):c.105C>T (p.Asn35=)
|
|
|
NM_030943.4(AMN):c.1065C>T (p.Gly355=)
|
|
|
NM_030943.4(AMN):c.1068C>T (p.Ser356=)
|
|
|
NM_030943.4(AMN):c.1077T>A (p.Ala359=)
|
|
|
NM_030943.4(AMN):c.1089C>T (p.Gly363=)
|
|
|
NM_030943.4(AMN):c.1092C>T (p.Gly364=)
|
|
|
NM_030943.4(AMN):c.1098G>A (p.Ala366=)
|
|
|
NM_030943.4(AMN):c.1104C>G (p.Ala368=)
|
|
|
NM_030943.4(AMN):c.1104C>T (p.Ala368=)
|
|
|
NM_030943.4(AMN):c.1108C>T (p.Leu370=)
|
|
|
NM_030943.4(AMN):c.1117C>T (p.Leu373=)
|
|
|
NM_030943.4(AMN):c.1128G>T (p.Leu376=)
|
|
|
NM_030943.4(AMN):c.1137G>A (p.Ala379=)
|
|
|
NM_030943.4(AMN):c.1146G>C (p.Leu382=)
|
|
|
NM_030943.4(AMN):c.1152C>T (p.Arg384=)
|
rs763597496
|
|
NM_030943.4(AMN):c.1158G>C (p.Ala386=)
|
|
|
NM_030943.4(AMN):c.1158G>T (p.Ala386=)
|
|
|
NM_030943.4(AMN):c.1169+10G>A
|
|
|
NM_030943.4(AMN):c.1169+14G>A
|
|
|
NM_030943.4(AMN):c.1169+16G>T
|
|
|
NM_030943.4(AMN):c.1169+19C>T
|
|
|
NM_030943.4(AMN):c.1170-10A>G
|
|
|
NM_030943.4(AMN):c.1170-12C>T
|
|
|
NM_030943.4(AMN):c.1170-14C>T
|
|
|
NM_030943.4(AMN):c.1170-16C>T
|
|
|
NM_030943.4(AMN):c.1170-17C>T
|
|
|
NM_030943.4(AMN):c.1170-7C>A
|
|
|
NM_030943.4(AMN):c.1170-7C>T
|
|
|
NM_030943.4(AMN):c.1170-8G>A
|
|
|
NM_030943.4(AMN):c.1170-8G>C
|
|
|
NM_030943.4(AMN):c.1170-9C>T
|
|
|
NM_030943.4(AMN):c.1177A>C (p.Arg393=)
|
|
|
NM_030943.4(AMN):c.1182C>T (p.His394=)
|
|
|
NM_030943.4(AMN):c.1185G>A (p.Glu395=)
|
|
|
NM_030943.4(AMN):c.1191G>A (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1191G>C (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1191G>T (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1194C>G (p.Ala398=)
|
|
|
NM_030943.4(AMN):c.1197G>C (p.Pro399=)
|
|
|
NM_030943.4(AMN):c.1206G>T (p.Ala402=)
|
|
|
NM_030943.4(AMN):c.1209C>T (p.Pro403=)
|
|
|
NM_030943.4(AMN):c.1215C>T (p.Gly405=)
|
|
|
NM_030943.4(AMN):c.1218C>T (p.Phe406=)
|
|
|
NM_030943.4(AMN):c.1221C>T (p.Arg407=)
|
|
|
NM_030943.4(AMN):c.1227G>A (p.Pro409=)
|
|
|
NM_030943.4(AMN):c.1242G>A (p.Thr414=)
|
|
|
NM_030943.4(AMN):c.1248C>T (p.Ser416=)
|
|
|
NM_030943.4(AMN):c.1257+10C>A
|
|
|
NM_030943.4(AMN):c.1257+15G>A
|
|
|
NM_030943.4(AMN):c.1257+16G>A
|
|
|
NM_030943.4(AMN):c.1257+16G>C
|
|
|
NM_030943.4(AMN):c.1257+17G>A
|
|
|
NM_030943.4(AMN):c.1257+18G>A
|
|
|
NM_030943.4(AMN):c.1257+19G>A
|
|
|
NM_030943.4(AMN):c.1257+20G>A
|
|
|
NM_030943.4(AMN):c.1257+20G>C
|
|
|
NM_030943.4(AMN):c.1257+20dup
|
rs759269975
|
|
NM_030943.4(AMN):c.1257+7G>T
|
|
|
NM_030943.4(AMN):c.1258-14C>T
|
|
|
NM_030943.4(AMN):c.1258-15C>A
|
|
|
NM_030943.4(AMN):c.1258-15C>T
|
|
|
NM_030943.4(AMN):c.1258-4G>C
|
|
|
NM_030943.4(AMN):c.1258-5C>T
|
|
|
NM_030943.4(AMN):c.1258-8C>A
|
|
|
NM_030943.4(AMN):c.1258-9A>C
|
|
|
NM_030943.4(AMN):c.126G>A (p.Pro42=)
|
|
|
NM_030943.4(AMN):c.1272G>C (p.Arg424=)
|
|
|
NM_030943.4(AMN):c.1278C>T (p.Ser426=)
|
|
|
NM_030943.4(AMN):c.1279C>T (p.Leu427=)
|
|
|
NM_030943.4(AMN):c.1281G>C (p.Leu427=)
|
|
|
NM_030943.4(AMN):c.1287G>A (p.Pro429=)
|
|
|
NM_030943.4(AMN):c.1287G>C (p.Pro429=)
|
rs2139314090
|
|
NM_030943.4(AMN):c.1293G>A (p.Ala431=)
|
|
|
NM_030943.4(AMN):c.1296C>T (p.Ala432=)
|
|
|
NM_030943.4(AMN):c.1299A>G (p.Ala433=)
|
|
|
NM_030943.4(AMN):c.129C>T (p.Cys43=)
|
|
|
NM_030943.4(AMN):c.1314C>T (p.His438=)
|
|
|
NM_030943.4(AMN):c.1317T>C (p.Ser439=)
|
|
|
NM_030943.4(AMN):c.1320C>T (p.Tyr440=)
|
|
|
NM_030943.4(AMN):c.1338C>T (p.Phe446=)
|
|
|
NM_030943.4(AMN):c.1341C>T (p.Ala447=)
|
|
|
NM_030943.4(AMN):c.1344G>A (p.Gly448=)
|
|
|
NM_030943.4(AMN):c.1347C>G (p.Ala449=)
|
|
|
NM_030943.4(AMN):c.1347C>T (p.Ala449=)
|
|
|
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3])
|
rs763564473
|
|
NM_030943.4(AMN):c.1350G>A (p.Glu450=)
|
|
|
NM_030943.4(AMN):c.1356G>A (p.Glu452=)
|
|
|
NM_030943.4(AMN):c.1359C>T (p.Ala453=)
|
|
|
NM_030943.4(AMN):c.135C>T (p.Gly45=)
|
|
|
NM_030943.4(AMN):c.141C>G (p.Ala47=)
|
|
|
NM_030943.4(AMN):c.141C>T (p.Ala47=)
|
|
|
NM_030943.4(AMN):c.153G>A (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.153G>C (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.153G>T (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.156G>A (p.Ala52=)
|
|
|
NM_030943.4(AMN):c.162+12C>G
|
|
|
NM_030943.4(AMN):c.162+12C>T
|
|
|
NM_030943.4(AMN):c.162+13G>A
|
|
|
NM_030943.4(AMN):c.162+15C>T
|
|
|
NM_030943.4(AMN):c.162+19G>A
|
|
|
NM_030943.4(AMN):c.162+8G>A
|
|
|
NM_030943.4(AMN):c.163-13C>A
|
|
|
NM_030943.4(AMN):c.163-16C>T
|
|
|
NM_030943.4(AMN):c.163-20G>A
|
|
|
NM_030943.4(AMN):c.163-6C>T
|
|
|
NM_030943.4(AMN):c.163-7C>T
|
|
|
NM_030943.4(AMN):c.168G>A (p.Val56=)
|
|
|
NM_030943.4(AMN):c.177G>A (p.Leu59=)
|
|
|
NM_030943.4(AMN):c.180G>C (p.Val60=)
|
|
|
NM_030943.4(AMN):c.192C>T (p.His64=)
|
|
|
NM_030943.4(AMN):c.195C>T (p.Ala65=)
|
|
|
NM_030943.4(AMN):c.196G>A (p.Val66Ile)
|
|
|
NM_030943.4(AMN):c.207+11G>A
|
|
|
NM_030943.4(AMN):c.207+11G>C
|
|
|
NM_030943.4(AMN):c.207+12C>A
|
|
|
NM_030943.4(AMN):c.207+13T>C
|
|
|
NM_030943.4(AMN):c.207+14G>T
|
|
|
NM_030943.4(AMN):c.207+17A>C
|
|
|
NM_030943.4(AMN):c.207+8C>T
|
|
|
NM_030943.4(AMN):c.208-14C>T
|
|
|
NM_030943.4(AMN):c.208-15C>G
|
|
|
NM_030943.4(AMN):c.208-17G>T
|
|
|
NM_030943.4(AMN):c.208-18dup
|
|
|
NM_030943.4(AMN):c.208-20T>C
|
|
|
NM_030943.4(AMN):c.213G>A (p.Leu71=)
|
|
|
NM_030943.4(AMN):c.219G>A (p.Leu73=)
|
|
|
NM_030943.4(AMN):c.21C>A (p.Val7=)
|
rs768522233
|
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NM_030943.4(AMN):c.21C>T (p.Val7=)
|
rs768522233
|
|
NM_030943.4(AMN):c.235C>T (p.Leu79=)
|
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|
NM_030943.4(AMN):c.240T>C (p.Ala80=)
|
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|
NM_030943.4(AMN):c.246A>G (p.Gly82=)
|
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NM_030943.4(AMN):c.249C>A (p.Ala83=)
|
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|
NM_030943.4(AMN):c.249C>G (p.Ala83=)
|
rs748549145
|
|
NM_030943.4(AMN):c.249C>T (p.Ala83=)
|
|
|
NM_030943.4(AMN):c.24G>T (p.Leu8=)
|
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|
NM_030943.4(AMN):c.258C>T (p.Gly86=)
|
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NM_030943.4(AMN):c.264A>G (p.Ser88=)
|
|
|
NM_030943.4(AMN):c.276G>C (p.Ser92=)
|
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|
NM_030943.4(AMN):c.280C>T (p.Leu94=)
|
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|
NM_030943.4(AMN):c.282G>A (p.Leu94=)
|
|
|
NM_030943.4(AMN):c.295+11C>T
|
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|
NM_030943.4(AMN):c.295+15C>T
|
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|
NM_030943.4(AMN):c.295+17G>A
|
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|
NM_030943.4(AMN):c.295+20G>A
|
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|
NM_030943.4(AMN):c.295+7C>G
|
|
|
NM_030943.4(AMN):c.295+7C>T
|
|
|
NM_030943.4(AMN):c.295+8G>A
|
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|
NM_030943.4(AMN):c.295+9G>A
|
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|
NM_030943.4(AMN):c.296-11C>T
|
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|
NM_030943.4(AMN):c.296-16A>T
|
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|
NM_030943.4(AMN):c.296-6del
|
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|
NM_030943.4(AMN):c.306C>A (p.Ala102=)
|
|
|
NM_030943.4(AMN):c.306C>T (p.Ala102=)
|
|
|
NM_030943.4(AMN):c.333C>T (p.Ser111=)
|
|
|
NM_030943.4(AMN):c.349C>T (p.Leu117=)
|
|
|
NM_030943.4(AMN):c.351G>C (p.Leu117=)
|
|
|
NM_030943.4(AMN):c.357C>T (p.Arg119=)
|
|
|
NM_030943.4(AMN):c.375T>C (p.Pro125=)
|
|
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NM_030943.4(AMN):c.378C>T (p.Gly126=)
|
|
|
NM_030943.4(AMN):c.381C>G (p.Leu127=)
|
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|
NM_030943.4(AMN):c.384C>T (p.Phe128=)
|
|
|
NM_030943.4(AMN):c.387C>T (p.Phe129=)
|
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|
NM_030943.4(AMN):c.396C>T (p.Ala132=)
|
|
|
NM_030943.4(AMN):c.414C>T (p.Arg138=)
|
|
|
NM_030943.4(AMN):c.423C>T (p.Asp141=)
|
rs2139309288
|
|
NM_030943.4(AMN):c.429C>T (p.Phe143=)
|
|
|
NM_030943.4(AMN):c.43+10G>A
|
|
|
NM_030943.4(AMN):c.43+11A>G
|
|
|
NM_030943.4(AMN):c.43+15C>T
|
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|
NM_030943.4(AMN):c.43+16A>G
|
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|
NM_030943.4(AMN):c.43+17C>G
|
|
|
NM_030943.4(AMN):c.43+17C>T
|
|
|
NM_030943.4(AMN):c.43+17_43+37del
|
|
|
NM_030943.4(AMN):c.43+18C>T
|
|
|
NM_030943.4(AMN):c.43+7C>T
|
|
|
NM_030943.4(AMN):c.43+8G>A
|
rs1891084049
|
|
NM_030943.4(AMN):c.43+9G>A
|
|
|
NM_030943.4(AMN):c.44-15T>C
|
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|
NM_030943.4(AMN):c.44-20C>T
|
|
|
NM_030943.4(AMN):c.44-4C>T
|
|
|
NM_030943.4(AMN):c.44-6C>T
|
|
|
NM_030943.4(AMN):c.44-9C>G
|
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|
NM_030943.4(AMN):c.441T>C (p.Ser147=)
|
|
|
NM_030943.4(AMN):c.456G>A (p.Val152=)
|
|
|
NM_030943.4(AMN):c.459G>C (p.Gly153=)
|
rs1286684210
|
|
NM_030943.4(AMN):c.462C>T (p.Leu154=)
|
|
|
NM_030943.4(AMN):c.46C>T (p.Leu16=)
|
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|
NM_030943.4(AMN):c.480C>A (p.Pro160=)
|
|
|
NM_030943.4(AMN):c.480C>T (p.Pro160=)
|
|
|
NM_030943.4(AMN):c.504T>A (p.Ala168=)
|
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|
NM_030943.4(AMN):c.510C>A (p.Gly170=)
|
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|
NM_030943.4(AMN):c.513+14G>A
|
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NM_030943.4(AMN):c.513+16A>C
|
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|
NM_030943.4(AMN):c.513+19del
|
|
|
NM_030943.4(AMN):c.513+8C>G
|
|
|
NM_030943.4(AMN):c.513+8C>T
|
rs764938272
|
|
NM_030943.4(AMN):c.514-15C>A
|
|
|
NM_030943.4(AMN):c.514-15C>T
|
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|
NM_030943.4(AMN):c.514-19G>A
|
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|
NM_030943.4(AMN):c.514-4G>C
|
|
|
NM_030943.4(AMN):c.514-4G>T
|
|
|
NM_030943.4(AMN):c.514-7C>T
|
|
|
NM_030943.4(AMN):c.516G>C (p.Thr172=)
|
|
|
NM_030943.4(AMN):c.522G>A (p.Thr174=)
|
|
|
NM_030943.4(AMN):c.525C>T (p.Arg175=)
|
|
|
NM_030943.4(AMN):c.555C>T (p.Ser185=)
|
|
|
NM_030943.4(AMN):c.558C>T (p.Arg186=)
|
|
|
NM_030943.4(AMN):c.561G>A (p.Ala187=)
|
|
|
NM_030943.4(AMN):c.579C>T (p.His193=)
|
|
|
NM_030943.4(AMN):c.57G>A (p.Ala19=)
|
rs145328398
|
|
NM_030943.4(AMN):c.582G>T (p.Gly194=)
|
|
|
NM_030943.4(AMN):c.591G>T (p.Ala197=)
|
|
|
NM_030943.4(AMN):c.597C>T (p.Ser199=)
|
|
|
NM_030943.4(AMN):c.600G>A (p.Val200=)
|
|
|
NM_030943.4(AMN):c.603C>T (p.Gly201=)
|
|
|
NM_030943.4(AMN):c.618G>A (p.Ala206=)
|
|
|
NM_030943.4(AMN):c.618G>C (p.Ala206=)
|
|
|
NM_030943.4(AMN):c.627G>A (p.Ser209=)
|
|
|
NM_030943.4(AMN):c.630C>T (p.Gly210=)
|
|
|
NM_030943.4(AMN):c.633C>T (p.Cys211=)
|
|
|
NM_030943.4(AMN):c.651+10G>A
|
|
|
NM_030943.4(AMN):c.651+12C>A
|
|
|
NM_030943.4(AMN):c.651+13G>T
|
|
|
NM_030943.4(AMN):c.651+15A>C
|
|
|
NM_030943.4(AMN):c.651+16G>T
|
|
|
NM_030943.4(AMN):c.651+9G>A
|
|
|
NM_030943.4(AMN):c.652-10C>T
|
|
|
NM_030943.4(AMN):c.652-12C>T
|
|
|
NM_030943.4(AMN):c.652-14G>A
|
|
|
NM_030943.4(AMN):c.652-14G>T
|
rs949145775
|
|
NM_030943.4(AMN):c.652-4C>T
|
|
|
NM_030943.4(AMN):c.660G>A (p.Pro220=)
|
|
|
NM_030943.4(AMN):c.672G>A (p.Ala224=)
|
|
|
NM_030943.4(AMN):c.672G>T (p.Ala224=)
|
|
|
NM_030943.4(AMN):c.678G>A (p.Leu226=)
|
|
|
NM_030943.4(AMN):c.687C>T (p.Pro229=)
|
|
|
NM_030943.4(AMN):c.690G>A (p.Leu230=)
|
|
|
NM_030943.4(AMN):c.693C>T (p.Gly231=)
|
|
|
NM_030943.4(AMN):c.702C>T (p.Cys234=)
|
|
|
NM_030943.4(AMN):c.705C>A (p.Pro235=)
|
|
|
NM_030943.4(AMN):c.705C>G (p.Pro235=)
|
|
|
NM_030943.4(AMN):c.711C>T (p.Ala237=)
|
|
|
NM_030943.4(AMN):c.723C>T (p.Ser241=)
|
|
|
NM_030943.4(AMN):c.732G>A (p.Arg244=)
|
|
|
NM_030943.4(AMN):c.753C>T (p.Asp251=)
|
|
|
NM_030943.4(AMN):c.756C>A (p.Leu252=)
|
|
|
NM_030943.4(AMN):c.756C>T (p.Leu252=)
|
|
|
NM_030943.4(AMN):c.75C>A (p.Val25=)
|
|
|
NM_030943.4(AMN):c.75C>T (p.Val25=)
|
|
|
NM_030943.4(AMN):c.760+12C>T
|
|
|
NM_030943.4(AMN):c.760+15C>T
|
|
|
NM_030943.4(AMN):c.760+16G>A
|
|
|
NM_030943.4(AMN):c.760+18G>A
|
|
|
NM_030943.4(AMN):c.760+8C>T
|
|
|
NM_030943.4(AMN):c.760+9C>T
|
|
|
NM_030943.4(AMN):c.761-14C>T
|
|
|
NM_030943.4(AMN):c.761-20C>A
|
|
|
NM_030943.4(AMN):c.761-20C>T
|
|
|
NM_030943.4(AMN):c.761-4G>A
|
|
|
NM_030943.4(AMN):c.761-8C>G
|
|
|
NM_030943.4(AMN):c.761-9C>A
|
|
|
NM_030943.4(AMN):c.762A>G (p.Gly254=)
|
|
|
NM_030943.4(AMN):c.775C>T (p.Leu259=)
|
|
|
NM_030943.4(AMN):c.780C>A (p.Thr260=)
|
|
|
NM_030943.4(AMN):c.783C>T (p.His261=)
|
|
|
NM_030943.4(AMN):c.789C>T (p.Pro263=)
|
|
|
NM_030943.4(AMN):c.798C>T (p.Asp266=)
|
|
|
NM_030943.4(AMN):c.801G>C (p.Leu267=)
|
rs1163660664
|
|
NM_030943.4(AMN):c.816G>A (p.Ala272=)
|
|
|
NM_030943.4(AMN):c.81C>T (p.Asn27=)
|
|
|
NM_030943.4(AMN):c.831C>T (p.Thr277=)
|
|
|
NM_030943.4(AMN):c.843+10C>A
|
|
|
NM_030943.4(AMN):c.843+11del
|
rs1467152225
|
|
NM_030943.4(AMN):c.843+13C>G
|
|
|
NM_030943.4(AMN):c.843+13C>T
|
|
|
NM_030943.4(AMN):c.843+14G>A
|
|
|
NM_030943.4(AMN):c.843+15C>T
|
|
|
NM_030943.4(AMN):c.843+20A>G
|
|
|
NM_030943.4(AMN):c.843+7G>A
|
|
|
NM_030943.4(AMN):c.844-11C>T
|
|
|
NM_030943.4(AMN):c.844-13T>A
|
|
|
NM_030943.4(AMN):c.844-15C>T
|
|
|
NM_030943.4(AMN):c.844-17C>G
|
|
|
NM_030943.4(AMN):c.844-17C>T
|
|
|
NM_030943.4(AMN):c.844-18C>A
|
|
|
NM_030943.4(AMN):c.855C>T (p.His285=)
|
|
|
NM_030943.4(AMN):c.861G>C (p.Leu287=)
|
|
|
NM_030943.4(AMN):c.870C>T (p.Ala290=)
|
|
|
NM_030943.4(AMN):c.888C>G (p.Arg296=)
|
|
|
NM_030943.4(AMN):c.915G>A (p.Thr305=)
|
|
|
NM_030943.4(AMN):c.918G>A (p.Glu306=)
|
|
|
NM_030943.4(AMN):c.921C>T (p.Ile307=)
|
|
|
NM_030943.4(AMN):c.945G>T (p.Gly315=)
|
|
|
NM_030943.4(AMN):c.954A>C (p.Thr318=)
|
|
|
NM_030943.4(AMN):c.954A>G (p.Thr318=)
|
|
|
NM_030943.4(AMN):c.957C>A (p.Gly319=)
|
|
|
NM_030943.4(AMN):c.967C>A (p.Arg323=)
|
|
|
NM_030943.4(AMN):c.96C>T (p.Val32=)
|
|
|
NM_030943.4(AMN):c.972G>A (p.Leu324=)
|
|
|
NM_030943.4(AMN):c.975C>T (p.Ala325=)
|
|
|
NM_030943.4(AMN):c.987G>A (p.Leu329=)
|
|
|
NM_030943.4(AMN):c.990G>A (p.Ala330=)
|
|
|