NM_000071.3(CBS):c.1552+154T>C
|
rs234701
|
0.95648
|
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.316+130G>A
|
rs73372393
|
0.02025
|
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.1039+19C>T
|
rs182908734
|
0.00373
|
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.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
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.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.397G>A (p.Asp133Asn)
|
rs539326697
|
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.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.1146-12C>T
|
rs199550738
|
0.00010
|
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.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
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.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
NM_000071.3(CBS):c.1067T>C (p.Val356Ala)
|
rs370163789
|
0.00006
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp)
|
rs780508029
|
0.00006
|
NM_000071.3(CBS):c.1379C>T (p.Thr460Met)
|
rs752596508
|
0.00006
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
NM_000071.3(CBS):c.1472G>A (p.Arg491His)
|
rs747419767
|
0.00006
|
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr)
|
rs1060500680
|
0.00006
|
NM_000071.3(CBS):c.352G>A (p.Val118Met)
|
rs763385546
|
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.65A>G (p.His22Arg)
|
rs763151207
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000071.3(CBS):c.1074G>A (p.Val358=)
|
rs570135008
|
0.00005
|
NM_000071.3(CBS):c.1468-6T>G
|
rs771250766
|
0.00005
|
NM_000071.3(CBS):c.1494G>A (p.Arg498=)
|
rs778800147
|
0.00005
|
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)
|
rs201916339
|
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.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
|
rs373782713
|
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.1106G>A (p.Arg369His)
|
rs11700812
|
0.00003
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000071.3(CBS):c.1146-7C>T
|
rs376749931
|
0.00003
|
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)
|
rs371214833
|
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.1356G>A (p.Ala452=)
|
rs776322450
|
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.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000071.3(CBS):c.435G>A (p.Pro145=)
|
rs148782895
|
0.00003
|
NM_000071.3(CBS):c.537C>T (p.Asp179=)
|
rs769712423
|
0.00003
|
NM_000071.3(CBS):c.538G>A (p.Val180Met)
|
rs759402521
|
0.00003
|
NM_000071.3(CBS):c.588G>C (p.Arg196Ser)
|
rs555751528
|
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.775G>A (p.Gly259Ser)
|
rs143124288
|
0.00003
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
0.00003
|
NM_000071.3(CBS):c.791T>C (p.Ile264Thr)
|
rs760212248
|
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.1337C>T (p.Ala446Val)
|
rs757347527
|
0.00002
|
NM_000071.3(CBS):c.1342G>A (p.Val448Met)
|
rs865989946
|
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.545G>A (p.Arg182Gln)
|
rs138314784
|
0.00002
|
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)
|
rs758712880
|
0.00002
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
NM_000071.3(CBS):c.921C>G (p.Gly307=)
|
rs147875876
|
0.00002
|
NM_000071.3(CBS):c.925G>A (p.Asp309Asn)
|
rs540013184
|
0.00002
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
NM_000071.3(CBS):c.1007G>A (p.Arg336His)
|
rs760417941
|
0.00001
|
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
|
rs1282760211
|
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.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
|
rs763036586
|
0.00001
|
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp)
|
rs367962613
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000071.3(CBS):c.1478C>T (p.Thr493Met)
|
rs996249907
|
0.00001
|
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
|
rs750311684
|
0.00001
|
NM_000071.3(CBS):c.210-3C>T
|
rs562656023
|
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.422C>T (p.Thr141Met)
|
rs771178320
|
0.00001
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)
|
rs1347651454
|
0.00001
|
NM_000071.3(CBS):c.548C>T (p.Ala183Val)
|
rs374464810
|
0.00001
|
NM_000071.3(CBS):c.632A>G (p.Lys211Arg)
|
rs201118737
|
0.00001
|
NM_000071.3(CBS):c.676G>C (p.Ala226Pro)
|
rs763835246
|
0.00001
|
NM_000071.3(CBS):c.687C>T (p.Pro229=)
|
rs769298649
|
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
|
NC_000021.8:g.(?_44473450)_(44492323_?)dup
|
|
|
NC_000021.8:g.(?_44473970)_(44492323_?)dup
|
|
|
NC_000021.8:g.(?_44478245)_(44485815_?)del
|
|
|
NC_000021.9:g.(?_43053340)_(43056907_?)del
|
|
|
NC_000021.9:g.(?_43053340)_(43076866_?)dup
|
|
|
NC_000021.9:g.(?_43058125)_(43065715_?)del
|
|
|
NC_000021.9:g.(?_43060421)_(43062415_?)dup
|
|
|
NM_000071.2(CBS):c.-242T>C
|
rs1983687076
|
|
NM_000071.2(CBS):c.832_833ins68 (p.?)
|
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
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.*19G>A
|
rs1555869794
|
|
NM_000071.3(CBS):c.*19G>C
|
rs1555869794
|
|
NM_000071.3(CBS):c.*20T>C
|
rs1555869789
|
|
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.1007G>C (p.Arg336Pro)
|
rs760417941
|
|
NM_000071.3(CBS):c.1009A>C (p.Met337Leu)
|
rs372822486
|
|
NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer)
|
rs1555873925
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)
|
|
|
NM_000071.3(CBS):c.1039+2T>C
|
|
|
NM_000071.3(CBS):c.1040-2A>G
|
|
|
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del)
|
rs863223436
|
|
NM_000071.3(CBS):c.1071C>T (p.Ala357=)
|
rs368206976
|
|
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)
|
|
|
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr)
|
rs1555873407
|
|
NM_000071.3(CBS):c.1082C>T (p.Ala361Val)
|
rs370851632
|
|
NM_000071.3(CBS):c.1089G>A (p.Glu363=)
|
rs1601343953
|
|
NM_000071.3(CBS):c.1114G>A (p.Val372Ile)
|
rs775354680
|
|
NM_000071.3(CBS):c.1114G>T (p.Val372Phe)
|
rs775354680
|
|
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)
|
rs1170128038
|
|
NM_000071.3(CBS):c.1145+1G>A
|
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)
|
rs1304669003
|
|
NM_000071.3(CBS):c.1179del (p.Lys394fs)
|
|
|
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys)
|
rs1485255027
|
|
NM_000071.3(CBS):c.1208C>T (p.Thr403Met)
|
rs886042297
|
|
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter)
|
rs1981682654
|
|
NM_000071.3(CBS):c.1210_1212del (p.Glu404del)
|
rs1555872822
|
|
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del)
|
rs780555741
|
|
NM_000071.3(CBS):c.1218del (p.Lys406fs)
|
rs794727083
|
|
NM_000071.3(CBS):c.1219_1223+8del
|
rs1555872787
|
|
NM_000071.3(CBS):c.1221del (p.Trp408fs)
|
rs1361324844
|
|
NM_000071.3(CBS):c.1223+1G>T
|
rs1601339216
|
|
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)
|
rs863223433
|
|
NM_000071.3(CBS):c.1227_1240del (p.Trp409fs)
|
|
|
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys)
|
rs767595472
|
|
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)
|
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.1288_1289del (p.Thr430fs)
|
|
|
NM_000071.3(CBS):c.1290C>T (p.Thr430=)
|
rs746564702
|
|
NM_000071.3(CBS):c.1301C>A (p.Thr434Asn)
|
rs1555872506
|
|
NM_000071.3(CBS):c.1304T>C (p.Ile435Thr)
|
rs1282119406
|
|
NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)
|
|
|
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)
|
rs1057516645
|
|
NM_000071.3(CBS):c.1341del (p.Val448fs)
|
rs2146340713
|
|
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp)
|
rs886057099
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
NM_000071.3(CBS):c.1358+1G>A
|
rs786204679
|
|
NM_000071.3(CBS):c.1358+2T>A
|
|
|
NM_000071.3(CBS):c.1358+2T>C
|
rs866630296
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
NM_000071.3(CBS):c.1359-1G>C
|
rs865990681
|
|
NM_000071.3(CBS):c.1359-2A>T
|
|
|
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)
|
rs121964971
|
|
NM_000071.3(CBS):c.1436T>C (p.Val479Ala)
|
rs886038933
|
|
NM_000071.3(CBS):c.1453A>G (p.Lys485Glu)
|
rs886057098
|
|
NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)
|
|
|
NM_000071.3(CBS):c.1467+4C>T
|
rs1981503515
|
|
NM_000071.3(CBS):c.1468-1G>A
|
rs1057516895
|
|
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)
|
rs1555871188
|
|
NM_000071.3(CBS):c.153_165del (p.Arg51fs)
|
rs1555876784
|
|
NM_000071.3(CBS):c.1545del (p.Ile516fs)
|
rs1555871095
|
|
NM_000071.3(CBS):c.1552+1G>A
|
rs1434118781
|
|
NM_000071.3(CBS):c.1553-1G>C
|
rs1555869979
|
|
NM_000071.3(CBS):c.1553-2A>C
|
rs760609383
|
|
NM_000071.3(CBS):c.1566del (p.Lys523fs)
|
rs786204466
|
|
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)
|
rs1555869958
|
|
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)
|
rs551198487
|
|
NM_000071.3(CBS):c.1603_1604del (p.Thr535fs)
|
rs1555869934
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)
|
rs1365095601
|
|
NM_000071.3(CBS):c.170G>A (p.Gly57Asp)
|
rs1295461215
|
|
NM_000071.3(CBS):c.179C>T (p.Ala60Val)
|
rs765352771
|
|
NM_000071.3(CBS):c.18_36del (p.Glu9fs)
|
rs1057516552
|
|
NM_000071.3(CBS):c.19del (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.209+1G>A
|
rs751464024
|
|
NM_000071.3(CBS):c.209+1G>C
|
rs751464024
|
|
NM_000071.3(CBS):c.209+1G>T
|
|
|
NM_000071.3(CBS):c.209+2T>C
|
rs1555876755
|
|
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
|
|
|
NM_000071.3(CBS):c.209dup (p.Ala71fs)
|
|
|
NM_000071.3(CBS):c.210-1G>C
|
rs2146414477
|
|
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
|
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)
|
rs863223435
|
|
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
|
|
|
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)
|
rs2146413970
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
|
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)
|
rs786204757
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.313C>G (p.Leu105Val)
|
rs1601375543
|
|
NM_000071.3(CBS):c.316+1G>A
|
rs1057516256
|
|
NM_000071.3(CBS):c.316+586A>G
|
|
|
NM_000071.3(CBS):c.323del (p.Lys108fs)
|
|
|
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)
|
rs760214620
|
|
NM_000071.3(CBS):c.349A>T (p.Ser117Cys)
|
rs1982753226
|
|
NM_000071.3(CBS):c.353_362del (p.Val118fs)
|
|
|
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)
|
rs1982750491
|
|
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)
|
rs770095972
|
|
NM_000071.3(CBS):c.371_374dup (p.Met126fs)
|
rs755625628
|
|
NM_000071.3(CBS):c.381T>G (p.Ile127Met)
|
rs199824647
|
|
NM_000071.3(CBS):c.393G>C (p.Glu131Asp)
|
rs1555875351
|
|
NM_000071.3(CBS):c.394C>A (p.Arg132Ser)
|
rs140002610
|
|
NM_000071.3(CBS):c.400G>C (p.Gly134Arg)
|
rs147474549
|
|
NM_000071.3(CBS):c.402del (p.Thr135fs)
|
rs1057517083
|
|
NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs)
|
rs1555875325
|
|
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)
|
|
|
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.430G>T (p.Glu144Ter)
|
rs121964966
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000071.3(CBS):c.450C>T (p.Thr150=)
|
rs750030593
|
|
NM_000071.3(CBS):c.451+1G>T
|
rs1555875292
|
|
NM_000071.3(CBS):c.452-153_624dup
|
rs1568932440
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.467del (p.Leu156fs)
|
rs767036273
|
|
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)
|
rs199817801
|
|
NM_000071.3(CBS):c.481del (p.Arg161fs)
|
rs2146387904
|
|
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)
|
rs1234354755
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.503_504del (p.Val168fs)
|
|
|
NM_000071.3(CBS):c.526G>A (p.Glu176Lys)
|
rs762065361
|
|
NM_000071.3(CBS):c.529A>T (p.Lys177Ter)
|
rs1982601982
|
|
NM_000071.3(CBS):c.532G>A (p.Val178Met)
|
rs370843514
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000071.3(CBS):c.539T>C (p.Val180Ala)
|
rs1555875010
|
|
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
|
|
|
NM_000071.3(CBS):c.588del (p.Arg196fs)
|
|
|
NM_000071.3(CBS):c.606dup (p.His203fs)
|
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000071.3(CBS):c.622T>C (p.Trp208Arg)
|
rs1060500683
|
|
NM_000071.3(CBS):c.636C>G (p.Asn212Lys)
|
rs2298758
|
|
NM_000071.3(CBS):c.637G>T (p.Glu213Ter)
|
rs758703098
|
|
NM_000071.3(CBS):c.650C>T (p.Ser217Phe)
|
rs1555874874
|
|
NM_000071.3(CBS):c.664C>T (p.Gln222Ter)
|
rs1568932262
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.667-14C>G
|
rs1388184910
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
NM_000071.3(CBS):c.667-1G>C
|
rs1982513394
|
|
NM_000071.3(CBS):c.671G>T (p.Arg224Leu)
|
rs761647392
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)
|
rs1555874803
|
|
NM_000071.3(CBS):c.684C>A (p.Asn228Lys)
|
rs1464223176
|
|
NM_000071.3(CBS):c.689T>A (p.Leu230Gln)
|
|
|
NM_000071.3(CBS):c.694C>G (p.His232Asp)
|
|
|
NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs)
|
rs1057517435
|
|
NM_000071.3(CBS):c.710C>T (p.Ala237Val)
|
rs1568931765
|
|
NM_000071.3(CBS):c.715G>T (p.Glu239Ter)
|
rs1982493665
|
|
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
|
|
|
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
|
|
|
NM_000071.3(CBS):c.736_736+8del
|
|
|
NM_000071.3(CBS):c.738del
|
rs766453711
|
|
NM_000071.3(CBS):c.741G>C (p.Lys247Asn)
|
rs746892057
|
|
NM_000071.3(CBS):c.745G>A (p.Asp249Asn)
|
rs767397847
|
|
NM_000071.3(CBS):c.747C>T (p.Asp249=)
|
rs1601356424
|
|
NM_000071.3(CBS):c.750G>A (p.Met250Ile)
|
rs863223431
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000071.3(CBS):c.753G>T (p.Leu251=)
|
rs2146375662
|
|
NM_000071.3(CBS):c.754G>A (p.Val252Met)
|
|
|
NM_000071.3(CBS):c.763G>C (p.Val255Leu)
|
rs1982371715
|
|
NM_000071.3(CBS):c.767G>T (p.Gly256Val)
|
|
|
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)
|
|
|
NM_000071.3(CBS):c.808_810del (p.Glu270del)
|
rs760710691
|
|
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)
|
rs528689432
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
NM_000071.3(CBS):c.829-1G>C
|
rs1555874263
|
|
NM_000071.3(CBS):c.829-8C>G
|
rs750081937
|
|
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer)
|
rs1555874223
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000071.3(CBS):c.862G>T (p.Ala288Ser)
|
rs141502207
|
|
NM_000071.3(CBS):c.887C>G (p.Thr296Arg)
|
rs562530775
|
|
NM_000071.3(CBS):c.887C>T (p.Thr296Met)
|
rs562530775
|
|
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
|
|
|
NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)
|
rs746575551
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
NM_000071.3(CBS):c.913G>A (p.Gly305Arg)
|
|
|
NM_000071.3(CBS):c.941T>C (p.Val314Ala)
|
rs1438933819
|
|
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
|
|
|
NM_000071.3(CBS):c.954+1G>A
|
rs1057517373
|
|
NM_000071.3(CBS):c.954+2T>G
|
rs1555874121
|
|
NM_000071.3(CBS):c.954G>A (p.Thr318=)
|
rs776122644
|
|
NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)
|
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000071.3(CBS):c.978del (p.Ser326fs)
|
|
|
NM_000071.3(CBS):c.98del (p.Pro33fs)
|
rs2146428203
|
|
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)
|
rs777919630
|
|
NM_000071.3(CBS):c.992C>T (p.Ala331Val)
|
rs777919630
|
|
NM_138694.4(PKHD1):c.5023del (p.Ala1675fs)
|
rs797044607
|
|