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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
NM_001081.4(CUBN):c.1015+282G>C
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|
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|
NM_001081.4(CUBN):c.5342+186G>A
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|
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|
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|
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|
NM_001081.4(CUBN):c.8906-127T>C
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|
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|
NM_001081.4(CUBN):c.9106+192G>T
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|
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|
NM_001081.4(CUBN):c.7705+106C>T
|
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|
0.42774
|
NM_001081.4(CUBN):c.10529-319G>T
|
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|
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|
NM_001081.4(CUBN):c.2487G>A (p.Ser829=)
|
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|
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|
NM_001081.4(CUBN):c.9237-293C>T
|
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|
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|
NM_001081.4(CUBN):c.9237-282C>T
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|
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|
NM_001081.4(CUBN):c.1530+311G>A
|
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|
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|
NM_001081.4(CUBN):c.6271+233T>G
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|
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|
NM_001081.4(CUBN):c.6647-216T>C
|
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|
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|
NM_001081.4(CUBN):c.10528+171G>A
|
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|
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|
NM_001081.4(CUBN):c.5210-61A>G
|
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|
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|
NM_001081.4(CUBN):c.1015+63C>T
|
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|
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|
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|
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|
NM_001081.4(CUBN):c.4350+52G>A
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|
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|
NM_001081.4(CUBN):c.5343-8C>A
|
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|
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|
NM_001081.4(CUBN):c.10363-320G>A
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|
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|
NM_001081.4(CUBN):c.6124+8C>T
|
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|
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|
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=)
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|
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|
NM_001081.4(CUBN):c.5080+207G>A
|
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|
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|
NM_001081.4(CUBN):c.10764+179C>T
|
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|
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|
NM_001081.4(CUBN):c.3330-209A>T
|
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|
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|
NM_001081.4(CUBN):c.5734-205A>G
|
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|
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|
NM_001081.4(CUBN):c.4970-22A>C
|
rs74668791
|
0.13460
|
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly)
|
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|
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|
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly)
|
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|
0.13166
|
NM_001081.4(CUBN):c.6646+305C>G
|
rs114111299
|
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|
NM_001081.4(CUBN):c.6646+154G>A
|
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|
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|
NM_001081.4(CUBN):c.5080+206C>A
|
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|
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|
NM_001081.4(CUBN):c.5081-332G>A
|
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|
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|
NM_001081.4(CUBN):c.5081-264T>C
|
rs11818224
|
0.12853
|
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe)
|
rs62619939
|
0.12797
|
NM_001081.4(CUBN):c.5210-120A>T
|
rs2271467
|
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|
NM_001081.4(CUBN):c.7533+194C>A
|
rs2271459
|
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|
NM_001081.4(CUBN):c.5926+210T>A
|
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|
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|
NM_001081.4(CUBN):c.*134G>A
|
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|
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|
NM_001081.4(CUBN):c.5926+25C>A
|
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|
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|
NM_001081.4(CUBN):c.3491-173A>T
|
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|
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|
NM_001081.4(CUBN):c.10529-282A>C
|
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|
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|
NM_001081.4(CUBN):c.3330-396A>T
|
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|
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|
NM_001081.4(CUBN):c.4695+42C>T
|
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|
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|
NM_001081.4(CUBN):c.8906-123G>A
|
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|
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|
NM_001081.4(CUBN):c.10362+193C>T
|
rs45620432
|
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|
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=)
|
rs1873469
|
0.09173
|
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=)
|
rs3740165
|
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|
NM_001081.4(CUBN):c.8599-178T>C
|
rs7087545
|
0.08314
|
NM_001081.4(CUBN):c.3491-172T>A
|
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|
0.08217
|
NM_001081.4(CUBN):c.2110+268G>A
|
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|
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|
NM_001081.4(CUBN):c.8755+174T>A
|
rs17343073
|
0.08089
|
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr)
|
rs7905349
|
0.08051
|
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val)
|
rs1801239
|
0.07706
|
NM_001081.4(CUBN):c.8598+149G>C
|
rs45619139
|
0.07693
|
NM_001081.4(CUBN):c.3491-170G>A
|
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|
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|
NM_001081.4(CUBN):c.3491-236T>C
|
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|
0.07584
|
NM_001081.4(CUBN):c.3491-180A>T
|
rs138366903
|
0.07282
|
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser)
|
rs2271462
|
0.07196
|
NM_001081.4(CUBN):c.5080+124C>G
|
rs28473579
|
0.07170
|
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=)
|
rs2271468
|
0.07161
|
NM_001081.4(CUBN):c.489+42C>T
|
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|
0.07042
|
NM_001081.4(CUBN):c.4017+232A>G
|
rs7091547
|
0.06908
|
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser)
|
rs7898873
|
0.06787
|
NM_001081.4(CUBN):c.1112-227C>T
|
rs60534442
|
0.06418
|
NM_001081.4(CUBN):c.3008+75T>C
|
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|
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|
NM_001081.4(CUBN):c.6124+62A>T
|
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|
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|
NM_001081.4(CUBN):c.883+185G>A
|
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|
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|
NM_001081.4(CUBN):c.4169-76C>T
|
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|
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|
NM_001081.4(CUBN):c.2110+235A>G
|
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|
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|
NM_001081.4(CUBN):c.4970-186A>G
|
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|
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|
NM_001081.4(CUBN):c.1417+168A>C
|
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|
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|
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=)
|
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|
0.05795
|
NM_001081.4(CUBN):c.5210-214A>C
|
rs61841455
|
0.05791
|
NM_001081.4(CUBN):c.4969+253A>C
|
rs11254295
|
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|
NM_001081.4(CUBN):c.5733+292C>T
|
rs61841448
|
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|
NM_001081.4(CUBN):c.4855+179C>T
|
rs74116779
|
0.05692
|
NM_001081.4(CUBN):c.4351-306C>A
|
rs11254318
|
0.05524
|
NM_001081.4(CUBN):c.8906-298C>T
|
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|
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|
NM_001081.4(CUBN):c.7913-11A>G
|
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|
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|
NM_001081.4(CUBN):c.2792-18T>A
|
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|
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|
NM_001081.4(CUBN):c.8755+168C>G
|
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|
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|
NM_001081.4(CUBN):c.349-263A>G
|
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|
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|
NM_001081.4(CUBN):c.2626-308A>G
|
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|
0.04755
|
NM_001081.4(CUBN):c.8756-246G>C
|
rs2221886
|
0.04707
|
NM_001081.4(CUBN):c.9237-252C>T
|
rs45575131
|
0.04353
|
NM_001081.4(CUBN):c.10529-316_10529-315insG
|
rs199702172
|
0.03939
|
NM_001081.4(CUBN):c.8905+54A>G
|
rs73592350
|
0.03770
|
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu)
|
rs76788243
|
0.03753
|
NM_001081.4(CUBN):c.122+148G>T
|
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|
0.03667
|
NM_001081.4(CUBN):c.10528+294T>C
|
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|
0.03566
|
NM_001081.4(CUBN):c.7351+99C>T
|
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|
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|
NM_001081.4(CUBN):c.3829+233C>T
|
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|
0.03376
|
NM_001081.4(CUBN):c.10032+202T>C
|
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|
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|
NM_001081.4(CUBN):c.3329+238C>G
|
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|
0.03082
|
NM_001081.4(CUBN):c.7912+134T>G
|
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|
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|
NM_001081.4(CUBN):c.3672+188C>T
|
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|
0.03065
|
NM_001081.4(CUBN):c.3830-68G>A
|
rs11254340
|
0.03057
|
NM_001081.4(CUBN):c.3330-95C>T
|
rs73598197
|
0.03040
|
NM_001081.4(CUBN):c.5927-180T>C
|
rs3847363
|
0.03021
|
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=)
|
rs1801228
|
0.02872
|
NM_001081.4(CUBN):c.252+194C>T
|
rs7899219
|
0.02649
|
NM_001081.4(CUBN):c.8756-296G>A
|
rs116842866
|
0.02487
|
NM_001081.4(CUBN):c.8756-285C>A
|
rs117476426
|
0.02484
|
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile)
|
rs1801238
|
0.02483
|
NM_001081.4(CUBN):c.8756-170A>G
|
rs17336476
|
0.02478
|
NM_001081.4(CUBN):c.2791+14C>T
|
rs111781659
|
0.02354
|
NM_001081.4(CUBN):c.6125-230A>G
|
rs868512913
|
0.02308
|
NM_001081.4(CUBN):c.3009-71A>G
|
rs73600202
|
0.02285
|
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg)
|
rs12259370
|
0.02267
|
NM_001081.4(CUBN):c.2626-309C>T
|
rs80004307
|
0.02132
|
NM_001081.4(CUBN):c.883+141C>T
|
rs112113856
|
0.02110
|
NM_001081.4(CUBN):c.2111-206T>C
|
rs115771770
|
0.02088
|
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg)
|
rs3740168
|
0.02019
|
NM_001081.4(CUBN):c.2791+6A>C
|
rs78549445
|
0.01999
|
NM_001081.4(CUBN):c.10363-283C>G
|
rs115458286
|
0.01884
|
NM_001081.4(CUBN):c.1948-68A>T
|
rs3740163
|
0.01855
|
NM_001081.4(CUBN):c.2571C>T (p.Asn857=)
|
rs17432826
|
0.01751
|
NM_001081.4(CUBN):c.7913-93A>G
|
rs73592391
|
0.01727
|
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile)
|
rs1801230
|
0.01713
|
NM_001081.4(CUBN):c.7912+138C>A
|
rs58855822
|
0.01663
|
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln)
|
rs45569534
|
0.01626
|
NM_001081.4(CUBN):c.*305T>G
|
rs143326344
|
0.01612
|
NM_001081.4(CUBN):c.5926+132A>G
|
rs78125159
|
0.01595
|
NM_001081.4(CUBN):c.9455-294_9455-291del
|
rs545418361
|
0.01582
|
NM_001081.4(CUBN):c.5927-140G>A
|
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|
0.01580
|
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu)
|
rs41289303
|
0.01542
|
NM_001081.4(CUBN):c.3830-75T>A
|
rs79180438
|
0.01501
|
NM_001081.4(CUBN):c.883+139G>A
|
rs12248535
|
0.01482
|
NM_001081.4(CUBN):c.489+117A>C
|
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|
0.01416
|
NM_001081.4(CUBN):c.3140-139A>G
|
rs73598198
|
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|
NM_001081.4(CUBN):c.*93C>A
|
rs111644764
|
0.01367
|
NM_001081.4(CUBN):c.6272-271T>C
|
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|
0.01345
|
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val)
|
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|
0.01345
|
NM_001081.4(CUBN):c.1230+186T>C
|
rs77960360
|
0.01305
|
NM_001081.4(CUBN):c.10362+167A>T
|
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|
0.01303
|
NM_001081.4(CUBN):c.489+36G>A
|
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|
0.01255
|
NM_001081.4(CUBN):c.*151G>A
|
rs76742384
|
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|
NM_001081.4(CUBN):c.2792-117G>A
|
rs189769252
|
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|
NM_001081.4(CUBN):c.593+225C>T
|
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|
0.01112
|
NM_001081.4(CUBN):c.10033-240A>G
|
rs73590391
|
0.01109
|
NM_001081.4(CUBN):c.8063-51G>A
|
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|
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|
NM_001081.4(CUBN):c.349-285A>G
|
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|
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|
NM_001081.4(CUBN):c.7913-230A>G
|
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|
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|
NM_001081.4(CUBN):c.8599-244T>A
|
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|
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NM_001081.4(CUBN):c.7534-246T>A
|
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|
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|
NM_001081.4(CUBN):c.10764+111G>T
|
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|
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|
NM_001081.4(CUBN):c.4970-93C>G
|
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|
0.01031
|
NM_001081.4(CUBN):c.*45C>T
|
rs7085076
|
0.01027
|
NM_001081.4(CUBN):c.10181-31G>A
|
rs115686202
|
0.01027
|
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val)
|
rs45551835
|
0.01006
|
NM_001081.4(CUBN):c.7000+177T>C
|
rs113622362
|
0.00976
|
NM_001081.4(CUBN):c.5081-106_5081-105insTAGTGGCAAA
|
rs778548191
|
0.00950
|
NM_001081.4(CUBN):c.5081-107T>C
|
rs879728457
|
0.00949
|
NM_001081.4(CUBN):c.5081-115_5081-112del
|
rs745609979
|
0.00949
|
NM_001081.4(CUBN):c.2301+33C>T
|
rs77279132
|
0.00948
|
NM_001081.4(CUBN):c.1111+192G>T
|
rs117169949
|
0.00945
|
NM_001081.4(CUBN):c.1947+228C>G
|
rs115946631
|
0.00942
|
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=)
|
rs114958584
|
0.00910
|
NM_001081.4(CUBN):c.10181-34T>C
|
rs111573959
|
0.00893
|
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=)
|
rs11254278
|
0.00833
|
NM_001081.4(CUBN):c.10764+251G>A
|
rs144577667
|
0.00829
|
NM_001081.4(CUBN):c.10363-51T>C
|
rs114249988
|
0.00827
|
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys)
|
rs2271460
|
0.00803
|
NM_001081.4(CUBN):c.5343-29C>G
|
rs112460214
|
0.00794
|
NM_001081.4(CUBN):c.6463-24T>G
|
rs75312629
|
0.00775
|
NM_001081.4(CUBN):c.10765-78T>C
|
rs7096870
|
0.00763
|
NM_001081.4(CUBN):c.9106+117A>G
|
rs145741235
|
0.00763
|
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn)
|
rs138083522
|
0.00756
|
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=)
|
rs115303408
|
0.00727
|
NM_001081.4(CUBN):c.10181-127G>A
|
rs45520337
|
0.00685
|
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn)
|
rs116114483
|
0.00681
|
NM_001081.4(CUBN):c.348+50A>T
|
rs114286622
|
0.00668
|
NM_001081.4(CUBN):c.8599-218C>T
|
rs115242977
|
0.00668
|
NM_001081.4(CUBN):c.3330-501A>G
|
rs146888130
|
0.00659
|
NM_001081.4(CUBN):c.253-49T>C
|
rs141499008
|
0.00657
|
NM_001081.4(CUBN):c.1418-319A>T
|
rs77051263
|
0.00653
|
NM_001081.4(CUBN):c.8905+197C>T
|
rs76265923
|
0.00647
|
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp)
|
rs57163243
|
0.00641
|
NM_001081.4(CUBN):c.5080+17T>C
|
rs79034718
|
0.00630
|
NM_001081.4(CUBN):c.3139+87C>T
|
rs137931656
|
0.00625
|
NM_001081.4(CUBN):c.963C>T (p.Pro321=)
|
rs150309054
|
0.00617
|
NM_001081.4(CUBN):c.5209+259T>G
|
rs74228756
|
0.00612
|
NM_001081.4(CUBN):c.388-337C>T
|
rs7900736
|
0.00592
|
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu)
|
rs117128556
|
0.00569
|
NM_001081.4(CUBN):c.2445C>T (p.Val815=)
|
rs116350428
|
0.00561
|
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr)
|
rs115048360
|
0.00561
|
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp)
|
rs144360241
|
0.00541
|
NM_001081.4(CUBN):c.3673-204T>C
|
rs527278305
|
0.00533
|
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser)
|
rs117035284
|
0.00531
|
NM_001081.4(CUBN):c.5210-331A>G
|
rs147716153
|
0.00530
|
NM_001081.4(CUBN):c.3330-598G>A
|
rs12244188
|
0.00523
|
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu)
|
rs74431427
|
0.00513
|
NM_001081.4(CUBN):c.10764+43G>C
|
rs138911609
|
0.00493
|
NM_001081.4(CUBN):c.3009-29C>A
|
rs149041253
|
0.00465
|
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)
|
rs148869805
|
0.00464
|
NM_001081.4(CUBN):c.2446+60C>G
|
rs146281738
|
0.00460
|
NM_001081.4(CUBN):c.9236+94C>T
|
rs145572921
|
0.00452
|
NM_001081.4(CUBN):c.2791+9_2791+16del
|
rs375796983
|
0.00423
|
NM_001081.4(CUBN):c.3672+108C>T
|
rs186151543
|
0.00419
|
NM_001081.4(CUBN):c.1948-21T>C
|
rs58697381
|
0.00409
|
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr)
|
rs57335729
|
0.00406
|
NM_001081.4(CUBN):c.2111-163C>A
|
rs534349877
|
0.00404
|
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala)
|
rs115449747
|
0.00403
|
NM_001081.4(CUBN):c.593+280C>G
|
rs73604216
|
0.00398
|
NM_001081.4(CUBN):c.10764+282C>G
|
rs186500009
|
0.00395
|
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser)
|
rs146593010
|
0.00386
|
NM_001081.4(CUBN):c.2625+195T>C
|
rs185292807
|
0.00376
|
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_001081.4(CUBN):c.4169-120C>T
|
rs190275854
|
0.00354
|
NM_001081.4(CUBN):c.5733+49T>C
|
rs114873876
|
0.00320
|
NM_001081.4(CUBN):c.8411-14T>C
|
rs141775273
|
0.00287
|
NM_001081.4(CUBN):c.10033-17C>T
|
rs188241873
|
0.00271
|
NM_001081.4(CUBN):c.8062+38T>C
|
rs115917830
|
0.00266
|
NM_001081.4(CUBN):c.1470G>A (p.Pro490=)
|
rs143255616
|
0.00243
|
NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=)
|
rs75737363
|
0.00192
|
NM_001081.4(CUBN):c.9987G>A (p.Ser3329=)
|
rs80308930
|
0.00182
|
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)
|
rs139596037
|
0.00168
|
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=)
|
rs150663813
|
0.00159
|
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys)
|
rs78201384
|
0.00159
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe)
|
rs140806389
|
0.00150
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_001081.4(CUBN):c.6673G>C (p.Asp2225His)
|
rs140862613
|
0.00111
|
NM_001081.4(CUBN):c.9204C>T (p.Ile3068=)
|
rs117755237
|
0.00091
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_001081.4(CUBN):c.3G>T (p.Met1Ile)
|
rs11254385
|
0.00076
|
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)
|
rs145023719
|
0.00070
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_001081.4(CUBN):c.2016G>A (p.Pro672=)
|
rs148107237
|
0.00052
|
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys)
|
rs138022214
|
0.00032
|
NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)
|
rs151134377
|
0.00029
|
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)
|
rs145881708
|
0.00027
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter)
|
rs137998687
|
0.00016
|
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly)
|
rs750735519
|
0.00014
|
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys)
|
rs375920680
|
0.00013
|
NM_001081.4(CUBN):c.5459A>G (p.Tyr1820Cys)
|
rs139369652
|
0.00013
|
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile)
|
rs143291127
|
0.00011
|
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)
|
rs151039810
|
0.00010
|
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
|
rs1276708
|
0.00010
|
NM_001081.4(CUBN):c.8765G>A (p.Ser2922Asn)
|
rs777692110
|
0.00008
|
NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala)
|
rs201138390
|
0.00007
|
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val)
|
rs767333853
|
0.00005
|
NM_001081.4(CUBN):c.2863G>A (p.Gly955Ser)
|
rs567450170
|
0.00003
|
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.736G>A (p.Val246Ile)
|
rs760990753
|
0.00003
|
NM_001081.4(CUBN):c.10277C>G (p.Thr3426Arg)
|
rs143066121
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.2418A>T (p.Lys806Asn)
|
rs764656350
|
0.00001
|
NM_001081.4(CUBN):c.7342A>G (p.Ser2448Gly)
|
rs776447439
|
0.00001
|
NM_001081.4(CUBN):c.7568T>C (p.Leu2523Pro)
|
rs145347743
|
0.00001
|
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys)
|
rs562374248
|
0.00001
|
GRCh38/hg38 10p13(chr10:16897939-16954954)x3
|
|
|
NM_001081.4(CUBN):c.10033-164A>C
|
rs114653294
|
|
NM_001081.4(CUBN):c.10033-164A>T
|
rs114653294
|
|
NM_001081.4(CUBN):c.10362+186C>G
|
rs72771367
|
|
NM_001081.4(CUBN):c.10363-131C>T
|
rs3740169
|
|
NM_001081.4(CUBN):c.10528+154dup
|
rs971747478
|
|
NM_001081.4(CUBN):c.10528+77T>C
|
rs74787946
|
|
NM_001081.4(CUBN):c.10529-101_10529-100del
|
|
|
NM_001081.4(CUBN):c.10529-303del
|
rs71287326
|
|
NM_001081.4(CUBN):c.10529-318_10529-315dup
|
rs71287326
|
|
NM_001081.4(CUBN):c.10529-318_10529-316dup
|
rs71287326
|
|
NM_001081.4(CUBN):c.10529-318_10529-317dup
|
rs71287326
|
|
NM_001081.4(CUBN):c.10529-318dup
|
rs71287326
|
|
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys)
|
rs1801232
|
|
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=)
|
rs1801232
|
|
NM_001081.4(CUBN):c.10764+129G>C
|
rs112783364
|
|
NM_001081.4(CUBN):c.10764+82del
|
rs370322118
|
|
NM_001081.4(CUBN):c.1112-45GAG[2]
|
rs201983518
|
|
NM_001081.4(CUBN):c.1231-208del
|
rs10556050
|
|
NM_001081.4(CUBN):c.1231-209_1231-208del
|
rs10556050
|
|
NM_001081.4(CUBN):c.1231-221dup
|
rs10556050
|
|
NM_001081.4(CUBN):c.1765+192_1765+215del
|
rs201170675
|
|
NM_001081.4(CUBN):c.1765+52G>T
|
rs1033765
|
|
NM_001081.4(CUBN):c.1911C>T (p.Leu637=)
|
rs41289311
|
|
NM_001081.4(CUBN):c.1947+151_1947+152del
|
rs45628438
|
|
NM_001081.4(CUBN):c.1948-207del
|
rs11284543
|
|
NM_001081.4(CUBN):c.1948-208_1948-207del
|
rs11284543
|
|
NM_001081.4(CUBN):c.1948-209_1948-207del
|
rs11284543
|
|
NM_001081.4(CUBN):c.1948-225dup
|
rs11284543
|
|
NM_001081.4(CUBN):c.2111-103TG[10]
|
rs45464996
|
|
NM_001081.4(CUBN):c.2144C>T (p.Pro715Leu)
|
|
|
NM_001081.4(CUBN):c.2446+101dup
|
rs567727489
|
|
NM_001081.4(CUBN):c.2626-149dup
|
rs200919613
|
|
NM_001081.4(CUBN):c.2792-161_2792-158del
|
rs199620316
|
|
NM_001081.4(CUBN):c.3008+160del
|
rs5783531
|
|
NM_001081.4(CUBN):c.3008+87_3008+88del
|
rs79364985
|
|
NM_001081.4(CUBN):c.3329+136_3329+137del
|
rs5783530
|
|
NM_001081.4(CUBN):c.3329+78dup
|
rs35217629
|
|
NM_001081.4(CUBN):c.3330-179T>C
|
rs2271689
|
|
NM_001081.4(CUBN):c.3330-381G>A
|
rs139003735
|
|
NM_001081.4(CUBN):c.3491-173del
|
rs34487389
|
|
NM_001081.4(CUBN):c.3491-174_3491-173del
|
rs34487389
|
|
NM_001081.4(CUBN):c.3649A>G (p.Asn1217Asp)
|
|
|
NM_001081.4(CUBN):c.3673-148_3673-146del
|
rs10561723
|
|
NM_001081.4(CUBN):c.3673-169_3673-165del
|
rs60434470
|
|
NM_001081.4(CUBN):c.3673-271del
|
rs202078584
|
|
NM_001081.4(CUBN):c.3673-88dup
|
rs11370796
|
|
NM_001081.4(CUBN):c.4017+277_4017+278dup
|
rs199683495
|
|
NM_001081.4(CUBN):c.4018-166T>C
|
rs35013380
|
|
NM_001081.4(CUBN):c.4169-45T>G
|
rs925522
|
|
NM_001081.4(CUBN):c.4350+2T>C
|
rs371489485
|
|
NM_001081.4(CUBN):c.4472A>C (p.Asp1491Ala)
|
rs1064795523
|
|
NM_001081.4(CUBN):c.4696-80C>T
|
rs115376431
|
|
NM_001081.4(CUBN):c.4787G>A (p.Ser1596Asn)
|
rs368081631
|
|
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)
|
|
|
NM_001081.4(CUBN):c.4855+261dup
|
rs111366459
|
|
NM_001081.4(CUBN):c.489+35A>C
|
rs2273737
|
|
NM_001081.4(CUBN):c.489+35A>T
|
rs2273737
|
|
NM_001081.4(CUBN):c.4969+217dup
|
rs200851855
|
|
NM_001081.4(CUBN):c.4969+265ACA[2]
|
rs10553704
|
|
NM_001081.4(CUBN):c.4970-127A>T
|
rs181272552
|
|
NM_001081.4(CUBN):c.5210-69T>A
|
|
|
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5549-101A>C
|
rs74116774
|
|
NM_001081.4(CUBN):c.557A>G (p.Asn186Ser)
|
rs1286216349
|
|
NM_001081.4(CUBN):c.5733+37G>A
|
rs3817218
|
|
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr)
|
rs2356590
|
|
NM_001081.4(CUBN):c.593+169T>G
|
rs7070148
|
|
NM_001081.4(CUBN):c.593+21del
|
rs35530629
|
|
NM_001081.4(CUBN):c.593+6_593+7dup
|
rs35530629
|
|
NM_001081.4(CUBN):c.593+6dup
|
rs35530629
|
|
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)
|
rs368951850
|
|
NM_001081.4(CUBN):c.6125-221T>G
|
rs376516470
|
|
NM_001081.4(CUBN):c.6125-223_6125-222del
|
rs375404995
|
|
NM_001081.4(CUBN):c.6398A>G (p.His2133Arg)
|
|
|
NM_001081.4(CUBN):c.6538G>A (p.Ala2180Thr)
|
rs769495257
|
|
NM_001081.4(CUBN):c.6647-98A>T
|
|
|
NM_001081.4(CUBN):c.6821+280C>G
|
rs72773207
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
NM_001081.4(CUBN):c.7088G>C (p.Cys2363Ser)
|
rs2131458198
|
|
NM_001081.4(CUBN):c.7533+92del
|
rs34673816
|
|
NM_001081.4(CUBN):c.7661_7662inv (p.Pro2554Leu)
|
|
|
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr)
|
rs2131430377
|
|
NM_001081.4(CUBN):c.8062+311T>A
|
rs2248584
|
|
NM_001081.4(CUBN):c.8062+59del
|
rs5783520
|
|
NM_001081.4(CUBN):c.8290T>C (p.Cys2764Arg)
|
|
|
NM_001081.4(CUBN):c.8693T>A (p.Phe2898Tyr)
|
|
|
NM_001081.4(CUBN):c.8756-214_8756-213del
|
rs200857510
|
|
NM_001081.4(CUBN):c.9107-108_9107-106del
|
rs3831351
|
|
NM_001081.4(CUBN):c.9207C>A (p.Thr3069=)
|
rs117936668
|
|
NM_001081.4(CUBN):c.9454+68G>A
|
rs703074
|
|
NM_001081.4(CUBN):c.9454+69dup
|
rs59702069
|
|
NM_001081.4(CUBN):c.9454+77_9454+78del
|
rs59702069
|
|
NM_001081.4(CUBN):c.9454+78_9454+79insG
|
rs1231299327
|
|
NM_001081.4(CUBN):c.9454+78del
|
rs59702069
|
|