NM_000071.3(CBS):c.1552+154T>C
|
rs234701
|
0.95648
|
NM_000071.3(CBS):c.1467+255A>G
|
rs234703
|
0.54417
|
NM_000071.3(CBS):c.-8-292G>C
|
rs9980564
|
0.45776
|
NM_000071.3(CBS):c.*565C>T
|
rs706209
|
0.39516
|
NM_000071.3(CBS):c.*544T>C
|
rs706208
|
0.39461
|
NM_000071.3(CBS):c.1146-288T>C
|
rs9325622
|
0.33776
|
NM_000071.3(CBS):c.829-265G>A
|
rs2849727
|
0.33333
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000071.3(CBS):c.699C>T (p.Tyr233=)
|
rs234706
|
0.28613
|
NM_000071.3(CBS):c.828+237C>T
|
rs1788466
|
0.21046
|
NM_000071.3(CBS):c.828+262A>T
|
rs61123777
|
0.17834
|
NM_000071.3(CBS):c.1358+264A>G
|
rs6586283
|
0.17746
|
NM_000071.3(CBS):c.1145+268C>T
|
rs234704
|
0.12142
|
NM_000071.3(CBS):c.1040-322T>C
|
rs73906418
|
0.11170
|
NM_000071.3(CBS):c.*299G>A
|
rs12613
|
0.09051
|
NM_000071.3(CBS):c.1468-36A>G
|
rs1005585
|
0.06546
|
NM_000071.3(CBS):c.451+75G>A
|
rs7279359
|
0.05794
|
NM_000071.3(CBS):c.1040-323G>A
|
rs76942167
|
0.03721
|
NM_000071.3(CBS):c.954+33G>A
|
rs59521601
|
0.03588
|
NM_000071.3(CBS):c.-8-258G>A
|
rs9980464
|
0.02673
|
NM_000071.3(CBS):c.316+130G>A
|
rs73372393
|
0.02025
|
NM_000071.3(CBS):c.*383C>T
|
rs73372352
|
0.01854
|
NM_000071.3(CBS):c.828+114C>T
|
rs73372380
|
0.01753
|
NM_000071.3(CBS):c.736+281A>C
|
rs115877954
|
0.01510
|
NM_000071.3(CBS):c.1467+191G>A
|
rs111622470
|
0.01474
|
NM_000071.3(CBS):c.736+282T>G
|
rs114681211
|
0.01429
|
NM_000071.3(CBS):c.736+295G>A
|
rs111590810
|
0.01371
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_000071.3(CBS):c.829-12C>T
|
rs75616587
|
0.00698
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
NM_000071.3(CBS):c.-8-36G>A
|
rs76178748
|
0.00467
|
NM_000071.3(CBS):c.1039+19C>T
|
rs182908734
|
0.00373
|
NM_000071.3(CBS):c.*34G>A
|
rs374464201
|
0.00214
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000071.3(CBS):c.1359-14C>T
|
rs115185587
|
0.00137
|
NM_000071.3(CBS):c.1223+12C>T
|
rs116578198
|
0.00093
|
NM_000071.3(CBS):c.*27C>T
|
rs55646248
|
0.00092
|
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)
|
rs201827340
|
0.00086
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000071.3(CBS):c.636C>T (p.Asn212=)
|
rs2298758
|
0.00068
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000071.3(CBS):c.829-14C>T
|
rs370697155
|
0.00051
|
NM_000071.3(CBS):c.954+20C>T
|
rs372327925
|
0.00051
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_000071.3(CBS):c.1539C>T (p.His513=)
|
rs187828882
|
0.00013
|
NM_000071.3(CBS):c.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
NM_000071.3(CBS):c.1266G>A (p.Pro422=)
|
rs150146702
|
0.00006
|
NM_000071.3(CBS):c.675C>T (p.Asn225=)
|
rs145303290
|
0.00001
|
NC_000021.9:g.43053136C>G
|
rs73372351
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC
|
|
|
NM_000071.3(CBS):c.*10C>A
|
rs9978104
|
|
NM_000071.3(CBS):c.-8-159C>T
|
rs73372396
|
|
NM_000071.3(CBS):c.-84-52C>T
|
rs9982921
|
|
NM_000071.3(CBS):c.-9+145A>G
|
rs73906425
|
|
NM_000071.3(CBS):c.-9+175T>C
|
rs9983620
|
|
NM_000071.3(CBS):c.1359-219C>T
|
rs34758144
|
|
NM_000071.3(CBS):c.1467+127_1467+157del
|
rs1233162829
|
|
NM_000071.3(CBS):c.1468-98G>A
|
rs1005584
|
|
NM_000071.3(CBS):c.1553-147del
|
rs372427824
|
|
NM_000071.3(CBS):c.209+103del
|
rs147833940
|
|
NM_000071.3(CBS):c.210-44_210-43dup
|
rs5844149
|
|
NM_000071.3(CBS):c.210-44dup
|
rs5844149
|
|
NM_000071.3(CBS):c.316+224C>A
|
rs234715
|
|
NM_000071.3(CBS):c.451+142G>A
|
rs2298760
|
|
NM_000071.3(CBS):c.451+82C>A
|
rs234707
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000071.3(CBS):c.828+238G>A
|
rs234705
|
|
NM_001178008.3(CBS):c.-85+195A>C
|
rs184089557
|
|