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.*123C>G
|
rs1051319
|
0.21968
|
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.317-46G>C
|
rs75873792
|
0.03396
|
NM_000071.3(CBS):c.-8-258G>A
|
rs9980464
|
0.02673
|
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.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.*540G>A
|
rs111386779
|
0.01634
|
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.955-108C>A
|
rs113678154
|
0.01389
|
NM_000071.3(CBS):c.736+295G>A
|
rs111590810
|
0.01371
|
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.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.1146-110C>A
|
rs138222805
|
0.00562
|
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.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.1257G>A (p.Leu419=)
|
rs138432416
|
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.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.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
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.1223+13G>A
|
rs533660793
|
0.00035
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
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.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000071.3(CBS):c.1273G>A (p.Val425Met)
|
rs138211175
|
0.00022
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
NM_000071.3(CBS):c.339C>T (p.Asn113=)
|
rs140879135
|
0.00019
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
0.00019
|
NM_000071.3(CBS):c.5C>T (p.Pro2Leu)
|
rs546530618
|
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.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp)
|
rs766444814
|
0.00012
|
NM_000071.3(CBS):c.221C>T (p.Pro74Leu)
|
rs762862715
|
0.00011
|
NM_000071.3(CBS):c.1223+5G>A
|
rs372609349
|
0.00010
|
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.700G>A (p.Asp234Asn)
|
rs773734233
|
0.00010
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000071.3(CBS):c.404C>T (p.Thr135Met)
|
rs144832032
|
0.00009
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000071.3(CBS):c.134G>A (p.Arg45Gln)
|
rs759502207
|
0.00008
|
NM_000071.3(CBS):c.400G>A (p.Gly134Arg)
|
rs147474549
|
0.00008
|
NM_000071.3(CBS):c.847G>A (p.Glu283Lys)
|
rs765811825
|
0.00008
|
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.1315C>T (p.Arg439Trp)
|
rs780508029
|
0.00006
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
NM_000071.3(CBS):c.1472G>A (p.Arg491His)
|
rs747419767
|
0.00006
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
NM_000071.3(CBS):c.610G>A (p.Val204Met)
|
rs372679328
|
0.00006
|
NM_000071.3(CBS):c.612G>C (p.Val204=)
|
rs539670390
|
0.00006
|
NM_000071.3(CBS):c.65A>G (p.His22Arg)
|
rs763151207
|
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.953C>T (p.Thr318Met)
|
rs769541394
|
0.00005
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000071.3(CBS):c.342G>A (p.Ala114=)
|
rs145338910
|
0.00004
|
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
|
rs373782713
|
0.00004
|
NM_000071.3(CBS):c.501C>T (p.Ile167=)
|
rs754246295
|
0.00004
|
NM_000071.3(CBS):c.71C>T (p.Ala24Val)
|
rs759682004
|
0.00004
|
NM_000071.3(CBS):c.1009A>G (p.Met337Val)
|
rs372822486
|
0.00003
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
NM_000071.3(CBS):c.1083G>A (p.Ala361=)
|
rs781323559
|
0.00003
|
NM_000071.3(CBS):c.1106G>A (p.Arg369His)
|
rs11700812
|
0.00003
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000071.3(CBS):c.1146-4G>A
|
rs778414187
|
0.00003
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000071.3(CBS):c.1359-9G>A
|
rs202137317
|
0.00003
|
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)
|
rs772344567
|
0.00003
|
NM_000071.3(CBS):c.152G>A (p.Arg51Lys)
|
rs370983323
|
0.00003
|
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg)
|
rs748953468
|
0.00003
|
NM_000071.3(CBS):c.2T>C (p.Met1Thr)
|
rs769766030
|
0.00003
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000071.3(CBS):c.429C>T (p.Ile143=)
|
rs370167302
|
0.00003
|
NM_000071.3(CBS):c.435G>A (p.Pro145=)
|
rs148782895
|
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.616G>A (p.Val206Met)
|
rs369220569
|
0.00003
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
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.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
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.1342G>A (p.Val448Met)
|
rs865989946
|
0.00002
|
NM_000071.3(CBS):c.1605C>T (p.Thr535=)
|
rs769221457
|
0.00002
|
NM_000071.3(CBS):c.301C>G (p.Leu101Val)
|
rs369644531
|
0.00002
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_000071.3(CBS):c.532-13T>C
|
rs757869040
|
0.00002
|
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)
|
rs758712880
|
0.00002
|
NM_000071.3(CBS):c.637G>A (p.Glu213Lys)
|
rs758703098
|
0.00002
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
NM_000071.3(CBS):c.1005C>T (p.Ala335=)
|
rs753731849
|
0.00001
|
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
|
rs1282760211
|
0.00001
|
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.1070C>G (p.Ala357Gly)
|
rs863223437
|
0.00001
|
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)
|
rs745764562
|
0.00001
|
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)
|
rs757920190
|
0.00001
|
NM_000071.3(CBS):c.1110C>T (p.Cys370=)
|
rs752404089
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
|
rs763036586
|
0.00001
|
NM_000071.3(CBS):c.1146-5C>T
|
rs941685349
|
0.00001
|
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp)
|
rs367962613
|
0.00001
|
NM_000071.3(CBS):c.1398G>A (p.Ser466=)
|
rs766199408
|
0.00001
|
NM_000071.3(CBS):c.1600G>A (p.Val534Ile)
|
rs779569366
|
0.00001
|
NM_000071.3(CBS):c.28del (p.Val10fs)
|
rs779250698
|
0.00001
|
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)
|
rs886057100
|
0.00001
|
NM_000071.3(CBS):c.395G>A (p.Arg132His)
|
rs779011920
|
0.00001
|
NM_000071.3(CBS):c.401G>C (p.Gly134Ala)
|
rs766958673
|
0.00001
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
NM_000071.3(CBS):c.463G>A (p.Ala155Thr)
|
rs1429138569
|
0.00001
|
NM_000071.3(CBS):c.666+10C>A
|
rs773040114
|
0.00001
|
NM_000071.3(CBS):c.676G>C (p.Ala226Pro)
|
rs763835246
|
0.00001
|
NM_000071.3(CBS):c.68C>T (p.Ser23Leu)
|
rs775785018
|
0.00001
|
NM_000071.3(CBS):c.736+5G>A
|
rs750518463
|
0.00001
|
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)
|
rs121964969
|
0.00001
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:44473972-44480656)x1
|
|
|
NC_000021.9:g.43053130C>T
|
rs114892713
|
|
NC_000021.9:g.43053136C>G
|
rs73372351
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000071.2(CBS):c.843_844ins68 (p.?)
|
|
|
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.-8-159C>T
|
rs73372396
|
|
NM_000071.3(CBS):c.-84-216A>G
|
rs150773867
|
|
NM_000071.3(CBS):c.-84-52C>T
|
rs9982921
|
|
NM_000071.3(CBS):c.-85+78G>C
|
rs191574093
|
|
NM_000071.3(CBS):c.-9+145A>G
|
rs73906425
|
|
NM_000071.3(CBS):c.-9+175T>C
|
rs9983620
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|
NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys)
|
rs1064793703
|
|
NM_000071.3(CBS):c.1009A>C (p.Met337Leu)
|
rs372822486
|
|
NM_000071.3(CBS):c.1040-115G>C
|
rs187967192
|
|
NM_000071.3(CBS):c.1051G>C (p.Gly351Arg)
|
rs774926464
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
NM_000071.3(CBS):c.1087del (p.Glu363fs)
|
rs1064794540
|
|
NM_000071.3(CBS):c.1114G>T (p.Val372Phe)
|
rs775354680
|
|
NM_000071.3(CBS):c.112G>A (p.Ala38Thr)
|
rs1064795253
|
|
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.1152G>C (p.Lys384Asn)
|
rs1304669003
|
|
NM_000071.3(CBS):c.1166G>C (p.Arg389Thr)
|
rs1383178636
|
|
NM_000071.3(CBS):c.1208C>T (p.Thr403Met)
|
rs886042297
|
|
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del)
|
rs780555741
|
|
NM_000071.3(CBS):c.1218del (p.Lys406fs)
|
rs794727083
|
|
NM_000071.3(CBS):c.1223+123_1224-87del
|
rs1416544817
|
|
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)
|
rs863223433
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.1310T>C (p.Ile437Thr)
|
rs2146341072
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
NM_000071.3(CBS):c.1358+7C>T
|
rs1341743668
|
|
NM_000071.3(CBS):c.1359-219C>T
|
rs34758144
|
|
NM_000071.3(CBS):c.1368G>T (p.Leu456=)
|
rs199941488
|
|
NM_000071.3(CBS):c.1467+127_1467+157del
|
rs1233162829
|
|
NM_000071.3(CBS):c.1468-132A>C
|
rs77459968
|
|
NM_000071.3(CBS):c.1468-219G>A
|
rs143698976
|
|
NM_000071.3(CBS):c.1468-98G>A
|
rs1005584
|
|
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)
|
rs1555871188
|
|
NM_000071.3(CBS):c.1513A>G (p.Met505Val)
|
rs2146328317
|
|
NM_000071.3(CBS):c.1526C>T (p.Ala509Val)
|
rs794727161
|
|
NM_000071.3(CBS):c.1527C>T (p.Ala509=)
|
rs794727162
|
|
NM_000071.3(CBS):c.1539C>G (p.His513Gln)
|
rs187828882
|
|
NM_000071.3(CBS):c.153_165del (p.Arg51fs)
|
rs1555876784
|
|
NM_000071.3(CBS):c.1552+201G>A
|
rs138874126
|
|
NM_000071.3(CBS):c.1553-101T>C
|
rs73906414
|
|
NM_000071.3(CBS):c.1553-147del
|
rs372427824
|
|
NM_000071.3(CBS):c.1553-157dup
|
rs372427824
|
|
NM_000071.3(CBS):c.1553-48C>T
|
rs114623741
|
|
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp)
|
rs1455031864
|
|
NM_000071.3(CBS):c.170G>A (p.Gly57Asp)
|
rs1295461215
|
|
NM_000071.3(CBS):c.183C>A (p.Ser61=)
|
rs753906914
|
|
NM_000071.3(CBS):c.19del (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.209+103del
|
rs147833940
|
|
NM_000071.3(CBS):c.209+1G>A
|
rs751464024
|
|
NM_000071.3(CBS):c.210-44_210-43dup
|
rs5844149
|
|
NM_000071.3(CBS):c.210-44dup
|
rs5844149
|
|
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)
|
rs863223435
|
|
NM_000071.3(CBS):c.266T>A (p.Met89Lys)
|
rs772450760
|
|
NM_000071.3(CBS):c.316+224C>A
|
rs234715
|
|
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.340G>A (p.Ala114Thr)
|
rs377708532
|
|
NM_000071.3(CBS):c.429C>G (p.Ile143Met)
|
rs370167302
|
|
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)
|
rs121964966
|
|
NM_000071.3(CBS):c.450C>T (p.Thr150=)
|
rs750030593
|
|
NM_000071.3(CBS):c.451+142G>A
|
rs2298760
|
|
NM_000071.3(CBS):c.451+197del
|
rs144404003
|
|
NM_000071.3(CBS):c.451+82C>A
|
rs234707
|
|
NM_000071.3(CBS):c.452G>T (p.Gly151Val)
|
rs2146388335
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)
|
rs199817801
|
|
NM_000071.3(CBS):c.474G>C (p.Ala158=)
|
rs189362155
|
|
NM_000071.3(CBS):c.488A>G (p.Tyr163Cys)
|
rs2146387804
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.531+1G>A
|
|
|
NM_000071.3(CBS):c.531G>C (p.Lys177Asn)
|
rs1064795022
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000071.3(CBS):c.572C>A (p.Thr191Lys)
|
rs121964973
|
|
NM_000071.3(CBS):c.580A>G (p.Asn194Asp)
|
rs370089875
|
|
NM_000071.3(CBS):c.599C>G (p.Pro200Arg)
|
|
|
NM_000071.3(CBS):c.622T>C (p.Trp208Arg)
|
rs1060500683
|
|
NM_000071.3(CBS):c.625C>A (p.Arg209=)
|
rs137939628
|
|
NM_000071.3(CBS):c.636C>G (p.Asn212Lys)
|
rs2298758
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
NM_000071.3(CBS):c.667-4G>A
|
rs750338571
|
|
NM_000071.3(CBS):c.669C>T (p.Tyr223=)
|
rs1366764579
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
NM_000071.3(CBS):c.736+2T>G
|
rs863223430
|
|
NM_000071.3(CBS):c.737-174T>C
|
rs78789995
|
|
NM_000071.3(CBS):c.737-225C>T
|
rs138347850
|
|
NM_000071.3(CBS):c.738del
|
rs766453711
|
|
NM_000071.3(CBS):c.750G>A (p.Met250Ile)
|
rs863223431
|
|
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
|
|
|
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)
|
rs528689432
|
|
NM_000071.3(CBS):c.828+238G>A
|
rs234705
|
|
NM_000071.3(CBS):c.869C>A (p.Pro290Gln)
|
rs760912339
|
|
NM_000071.3(CBS):c.903C>A (p.Tyr301Ter)
|
rs746575551
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
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.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000071.3(CBS):c.990G>A (p.Glu330=)
|
rs1373353287
|
|
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)
|
rs777919630
|
|
NM_000071.3(CBS):c.992C>T (p.Ala331Val)
|
rs777919630
|
|
NM_001178008.3(CBS):c.-85+195A>C
|
rs184089557
|
|