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.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000071.3(CBS):c.699C>T (p.Tyr233=)
|
rs234706
|
0.28613
|
NM_000071.3(CBS):c.*123C>G
|
rs1051319
|
0.21968
|
NM_000071.3(CBS):c.*299G>A
|
rs12613
|
0.09051
|
NM_000071.3(CBS):c.*383C>T
|
rs73372352
|
0.01854
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_000071.3(CBS):c.*81G>A
|
rs115406358
|
0.01211
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_000071.3(CBS):c.*566G>A
|
rs111969522
|
0.00793
|
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.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
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_000071.2(CBS):c.-160C>T
|
rs112271970
|
0.00185
|
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.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_000071.3(CBS):c.-136C>T
|
rs543595103
|
0.00096
|
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.833T>C (p.Ile278Thr)
|
rs5742905
|
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.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_000071.3(CBS):c.600G>A (p.Pro200=)
|
rs181472622
|
0.00029
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000071.3(CBS):c.1379C>T (p.Thr460Met)
|
rs752596508
|
0.00006
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
NM_000071.3(CBS):c.352G>A (p.Val118Met)
|
rs763385546
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000071.3(CBS):c.1494G>A (p.Arg498=)
|
rs778800147
|
0.00005
|
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)
|
rs371214833
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000071.3(CBS):c.301C>G (p.Leu101Val)
|
rs369644531
|
0.00002
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)
|
rs886057100
|
0.00001
|
NM_000071.2(CBS):c.-242T>C
|
rs1983687076
|
|
NM_000071.3(CBS):c.*10C>A
|
rs9978104
|
|
NM_000071.3(CBS):c.*132G>C
|
rs550053103
|
|
NM_000071.3(CBS):c.*140G>A
|
rs544806265
|
|
NM_000071.3(CBS):c.*286A>G
|
rs998021241
|
|
NM_000071.3(CBS):c.*296T>C
|
rs4987122
|
|
NM_000071.3(CBS):c.*305T>C
|
rs1202078818
|
|
NM_000071.3(CBS):c.*394C>T
|
rs1175113287
|
|
NM_000071.3(CBS):c.*409G>A
|
rs571374721
|
|
NM_000071.3(CBS):c.*409G>T
|
rs571374721
|
|
NM_000071.3(CBS):c.*472C>T
|
rs886057096
|
|
NM_000071.3(CBS):c.*592T>A
|
rs866356348
|
|
NM_000071.3(CBS):c.*681A>G
|
rs111413325
|
|
NM_000071.3(CBS):c.*80C>T
|
rs141447394
|
|
NM_000071.3(CBS):c.-81C>T
|
rs1983542635
|
|
NM_000071.3(CBS):c.-85+10G>C
|
rs886057102
|
|
NM_000071.3(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA
|
rs1568943606
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys)
|
rs767595472
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp)
|
rs886057099
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
NM_000071.3(CBS):c.1453A>G (p.Lys485Glu)
|
rs886057098
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.349A>T (p.Ser117Cys)
|
rs1982753226
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.532G>A (p.Val178Met)
|
rs370843514
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000071.3(CBS):c.664C>T (p.Gln222Ter)
|
rs1568932262
|
|
NM_000071.3(CBS):c.887C>G (p.Thr296Arg)
|
rs562530775
|
|