NM_000071.3(CBS):c.317-46G>C
|
rs75873792
|
0.03396
|
NM_000071.3(CBS):c.1467+317G>A
|
rs375968402
|
0.02605
|
NM_000071.3(CBS):c.829-320G>A
|
rs112219271
|
0.02175
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_000071.3(CBS):c.955-108C>A
|
rs113678154
|
0.01389
|
NM_000071.3(CBS):c.*81G>A
|
rs115406358
|
0.01211
|
NM_000071.3(CBS):c.829-91G>A
|
rs150181241
|
0.01153
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_000071.3(CBS):c.1040-275G>A
|
rs115880859
|
0.00873
|
NM_000071.3(CBS):c.*566G>A
|
rs111969522
|
0.00793
|
NM_000071.3(CBS):c.1145+241A>G
|
rs112218368
|
0.00754
|
NM_000071.3(CBS):c.209+236G>A
|
rs115368814
|
0.00742
|
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.1146-110C>A
|
rs138222805
|
0.00562
|
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.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
NM_000071.3(CBS):c.210-45dup
|
rs397805342
|
0.00190
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
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.1125C>T (p.Pro375=)
|
rs146180894
|
0.00067
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
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.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_000071.3(CBS):c.33G>A (p.Gly11=)
|
rs567323664
|
0.00025
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
NM_000071.3(CBS):c.339C>T (p.Asn113=)
|
rs140879135
|
0.00019
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
NM_000071.3(CBS):c.1341C>T (p.Pro447=)
|
rs371493662
|
0.00013
|
NM_000071.3(CBS):c.151A>C (p.Arg51=)
|
rs754759237
|
0.00010
|
NM_000071.3(CBS):c.1524C>T (p.Phe508=)
|
rs748610628
|
0.00010
|
NM_000071.3(CBS):c.1575T>C (p.Ser525=)
|
rs150037641
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000071.3(CBS):c.1338G>A (p.Ala446=)
|
rs373962057
|
0.00007
|
NM_000071.3(CBS):c.345C>T (p.Gly115=)
|
rs374438247
|
0.00007
|
NM_000071.3(CBS):c.1039+3G>A
|
rs747384273
|
0.00006
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000071.3(CBS):c.1266G>A (p.Pro422=)
|
rs150146702
|
0.00006
|
NM_000071.3(CBS):c.612G>C (p.Val204=)
|
rs539670390
|
0.00006
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000071.3(CBS):c.954+7C>T
|
rs554429567
|
0.00006
|
NM_000071.3(CBS):c.1074G>A (p.Val358=)
|
rs570135008
|
0.00005
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
NM_000071.3(CBS):c.342G>A (p.Ala114=)
|
rs145338910
|
0.00004
|
NM_000071.3(CBS):c.501C>T (p.Ile167=)
|
rs754246295
|
0.00004
|
NM_000071.3(CBS):c.1083G>A (p.Ala361=)
|
rs781323559
|
0.00003
|
NM_000071.3(CBS):c.1146-4G>A
|
rs778414187
|
0.00003
|
NM_000071.3(CBS):c.1359-9G>A
|
rs202137317
|
0.00003
|
NM_000071.3(CBS):c.429C>T (p.Ile143=)
|
rs370167302
|
0.00003
|
NM_000071.3(CBS):c.456C>T (p.Ile152=)
|
rs769438280
|
0.00003
|
NM_000071.3(CBS):c.525C>T (p.Ser175=)
|
rs767850964
|
0.00003
|
NM_000071.3(CBS):c.615G>C (p.Gly205=)
|
rs773114442
|
0.00003
|
NM_000071.3(CBS):c.903C>T (p.Tyr301=)
|
rs746575551
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000071.3(CBS):c.1038C>T (p.Cys346=)
|
rs781584799
|
0.00002
|
NM_000071.3(CBS):c.1251G>A (p.Leu417=)
|
rs764079534
|
0.00002
|
NM_000071.3(CBS):c.1605C>T (p.Thr535=)
|
rs769221457
|
0.00002
|
NM_000071.3(CBS):c.532-13T>C
|
rs757869040
|
0.00002
|
NM_000071.3(CBS):c.1035G>T (p.Leu345=)
|
rs746340769
|
0.00001
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
NM_000071.3(CBS):c.1110C>T (p.Cys370=)
|
rs752404089
|
0.00001
|
NM_000071.3(CBS):c.1146-5C>T
|
rs941685349
|
0.00001
|
NM_000071.3(CBS):c.1398G>A (p.Ser466=)
|
rs766199408
|
0.00001
|
NM_000071.3(CBS):c.666+10C>A
|
rs773040114
|
0.00001
|
NC_000021.9:g.43053130C>T
|
rs114892713
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000071.3(CBS):c.*53_*55del
|
rs1442787650
|
|
NM_000071.3(CBS):c.*681A>G
|
rs111413325
|
|
NM_000071.3(CBS):c.-6C>A
|
rs1601384805
|
|
NM_000071.3(CBS):c.-84-216A>G
|
rs150773867
|
|
NM_000071.3(CBS):c.-85+78G>C
|
rs191574093
|
|
NM_000071.3(CBS):c.1040-115G>C
|
rs187967192
|
|
NM_000071.3(CBS):c.1146-10C>G
|
rs1379534542
|
|
NM_000071.3(CBS):c.1146-199T>C
|
rs143246802
|
|
NM_000071.3(CBS):c.1146-68G>A
|
rs147006826
|
|
NM_000071.3(CBS):c.1223+123_1224-87del
|
rs1416544817
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
NM_000071.3(CBS):c.1358+7C>T
|
rs1341743668
|
|
NM_000071.3(CBS):c.1368G>T (p.Leu456=)
|
rs199941488
|
|
NM_000071.3(CBS):c.1468-132A>C
|
rs77459968
|
|
NM_000071.3(CBS):c.1468-219G>A
|
rs143698976
|
|
NM_000071.3(CBS):c.1552+201G>A
|
rs138874126
|
|
NM_000071.3(CBS):c.1553-101T>C
|
rs73906414
|
|
NM_000071.3(CBS):c.1553-157dup
|
rs372427824
|
|
NM_000071.3(CBS):c.1553-48C>T
|
rs114623741
|
|
NM_000071.3(CBS):c.183C>A (p.Ser61=)
|
rs753906914
|
|
NM_000071.3(CBS):c.316+524G>A
|
|
|
NM_000071.3(CBS):c.317-225C>T
|
rs142215670
|
|
NM_000071.3(CBS):c.317-319A>G
|
rs73906421
|
|
NM_000071.3(CBS):c.317-70dup
|
rs772361626
|
|
NM_000071.3(CBS):c.451+197del
|
rs144404003
|
|
NM_000071.3(CBS):c.625C>A (p.Arg209=)
|
rs137939628
|
|
NM_000071.3(CBS):c.667-4G>A
|
rs750338571
|
|
NM_000071.3(CBS):c.669C>T (p.Tyr223=)
|
rs1366764579
|
|
NM_000071.3(CBS):c.737-174T>C
|
rs78789995
|
|
NM_000071.3(CBS):c.737-225C>T
|
rs138347850
|
|
NM_000071.3(CBS):c.954+47C>T
|
rs57282132
|
|
NM_000071.3(CBS):c.954G>A (p.Thr318=)
|
rs776122644
|
|
NM_000071.3(CBS):c.955-48C>T
|
rs73372374
|
|
NM_000071.3(CBS):c.990G>A (p.Glu330=)
|
rs1373353287
|
|