ClinVar Miner

List of variants in gene CBS

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Gene type:
ClinVar version:
Total variants: 435
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HGVS dbSNP
CBS, 68-BP INS
GRCh37/hg19 21q22.3(chr21:44477206-44488974)x1
NC_000021.8:g.(?_44473450)_(44477017_?)del
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.8:g.(?_44478235)_(44485825_?)del
NC_000021.9:g.43071882del
NM_000071.2(CBS):c.*103_*107delCTGGC rs71872941
NM_000071.2(CBS):c.*10C>A rs9978104
NM_000071.2(CBS):c.*123C>G rs1051319
NM_000071.2(CBS):c.*18G>A rs200259659
NM_000071.2(CBS):c.*19G>A rs1555869794
NM_000071.2(CBS):c.*19G>C rs1555869794
NM_000071.2(CBS):c.*20T>C rs1555869789
NM_000071.2(CBS):c.*22C>T rs1051316
NM_000071.2(CBS):c.*27C>T rs55646248
NM_000071.2(CBS):c.*28G>A rs367597108
NM_000071.2(CBS):c.*299G>A rs12613
NM_000071.2(CBS):c.*34G>A rs374464201
NM_000071.2(CBS):c.*383C>T rs73372352
NM_000071.2(CBS):c.*472C>T rs886057096
NM_000071.2(CBS):c.*540G>A rs111386779
NM_000071.2(CBS):c.*544T>C rs706208
NM_000071.2(CBS):c.*55_*57delTTC rs886057097
NM_000071.2(CBS):c.*565C>T rs706209
NM_000071.2(CBS):c.*566G>A rs111969522
NM_000071.2(CBS):c.*592T>A rs866356348
NM_000071.2(CBS):c.*81G>A rs115406358
NM_000071.2(CBS):c.-136C>T rs543595103
NM_000071.2(CBS):c.-160C>T rs112271970
NM_000071.2(CBS):c.-50dupA rs886057101
NM_000071.2(CBS):c.-6C>A
NM_000071.2(CBS):c.-8-258G>A
NM_000071.2(CBS):c.-8-292G>C
NM_000071.2(CBS):c.-85+10G>C rs886057102
NM_000071.2(CBS):c.-86_-85+13delAGGTGAGATCCGGCCinsTGAAGGGTACCGCGA rs1568943606
NM_000071.2(CBS):c.-9+14G>A rs927172505
NM_000071.2(CBS):c.1005C>T (p.Ala335=) rs753731849
NM_000071.2(CBS):c.1005_1006delinsTT (p.Arg336Cys) rs1064793703
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1009A>C (p.Met337Leu) rs372822486
NM_000071.2(CBS):c.1009A>G (p.Met337Val) rs372822486
NM_000071.2(CBS):c.1009_1012del (p.Arg336_Met337insTer) rs1555873925
NM_000071.2(CBS):c.1039+19C>T rs182908734
NM_000071.2(CBS):c.1039+20G>A rs548871653
NM_000071.2(CBS):c.1039+3G>A rs747384273
NM_000071.2(CBS):c.1039+6T>G
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1040-16G>A rs755940179
NM_000071.2(CBS):c.1040-275G>A
NM_000071.2(CBS):c.1040-322T>C
NM_000071.2(CBS):c.1040-323G>A
NM_000071.2(CBS):c.1040-6C>G rs767372401
NM_000071.2(CBS):c.1051G>C (p.Gly351Arg) rs774926464
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1061_1069del (p.Val354_Val356del) rs863223436
NM_000071.2(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.2(CBS):c.1065G>A (p.Ala355=) rs748552493
NM_000071.2(CBS):c.1067T>C (p.Val356Ala) rs370163789
NM_000071.2(CBS):c.106A>G (p.Lys36Glu) rs904453895
NM_000071.2(CBS):c.1070C>G (p.Ala357Gly) rs863223437
NM_000071.2(CBS):c.1072G>A (p.Val358Met) rs148589243
NM_000071.2(CBS):c.1074G>A (p.Val358=)
NM_000071.2(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.2(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.2(CBS):c.1082C>T (p.Ala361Val) rs370851632
NM_000071.2(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1106G>A (p.Arg369His)
NM_000071.2(CBS):c.1109G>A (p.Cys370Tyr) rs757920190
NM_000071.2(CBS):c.1110C>T (p.Cys370=) rs752404089
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1114G>A (p.Val372Ile)
NM_000071.2(CBS):c.1114G>T (p.Val372Phe) rs775354680
NM_000071.2(CBS):c.1125C>T (p.Pro375=) rs146180894
NM_000071.2(CBS):c.1126G>A (p.Asp376Asn)
NM_000071.2(CBS):c.112G>A (p.Ala38Thr) rs1064795253
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1145+241A>G
NM_000071.2(CBS):c.1145+268C>T
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1145+9C>T rs745997797
NM_000071.2(CBS):c.1146-110C>A
NM_000071.2(CBS):c.1146-12C>T rs199550738
NM_000071.2(CBS):c.1146-20G>A rs1057522600
NM_000071.2(CBS):c.1146-288T>C
NM_000071.2(CBS):c.1146-5C>T rs941685349
NM_000071.2(CBS):c.1146-7C>T rs376749931
NM_000071.2(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.2(CBS):c.1150A>G (p.Lys384Glu) rs121964967
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1166G>C (p.Arg389Thr) rs1383178636
NM_000071.2(CBS):c.1194_1196GGA[2] (p.Glu400del) rs745438246
NM_000071.2(CBS):c.1205T>C (p.Leu402Pro) rs371214833
NM_000071.2(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.2(CBS):c.1209G>A (p.Thr403=) rs199967147
NM_000071.2(CBS):c.1210_1212del (p.Glu404del) rs1555872822
NM_000071.2(CBS):c.1213_1215AAG[1] (p.Lys406del) rs780555741
NM_000071.2(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.2(CBS):c.1219_1223+8del13 rs1555872787
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1223+12C>T rs116578198
NM_000071.2(CBS):c.1223+13G>A rs533660793
NM_000071.2(CBS):c.1223+16C>G rs748900028
NM_000071.2(CBS):c.1223+1G>T
NM_000071.2(CBS):c.1223+5G>A rs372609349
NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.2(CBS):c.1224-14C>T rs756737169
NM_000071.2(CBS):c.1224-2A>C rs375846341
NM_000071.2(CBS):c.1224-5C>T rs370071493
NM_000071.2(CBS):c.1237C>T (p.Arg413Cys)
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1260A>G (p.Ser420=) rs1060503997
NM_000071.2(CBS):c.1262C>A (p.Ala421Asp) rs886039021
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.1272C>T (p.Thr424=) rs141717913
NM_000071.2(CBS):c.1273G>A (p.Val425Met) rs138211175
NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) rs863223434
NM_000071.2(CBS):c.1287C>T (p.Ile429=) rs770442169
NM_000071.2(CBS):c.1301C>A (p.Thr434Asn) rs1555872506
NM_000071.2(CBS):c.1304T>C (p.Ile435Thr) rs1282119406
NM_000071.2(CBS):c.1315C>T (p.Arg439Trp)
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1321A>T (p.Lys441Ter) rs1057516645
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1332C>T (p.Asp444=) rs1060503998
NM_000071.2(CBS):c.1337C>T (p.Ala446Val)
NM_000071.2(CBS):c.1338G>A (p.Ala446=) rs373962057
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.1341C>T (p.Pro447=) rs371493662
NM_000071.2(CBS):c.1342G>A (p.Val448Met) rs865989946
NM_000071.2(CBS):c.134G>A (p.Arg45Gln) rs759502207
NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) rs367962613
NM_000071.2(CBS):c.1357G>T (p.Gly453Trp) rs886057099
NM_000071.2(CBS):c.1358+15C>A rs186497436
NM_000071.2(CBS):c.1358+15C>G rs186497436
NM_000071.2(CBS):c.1358+1G>A rs786204679
NM_000071.2(CBS):c.1358+264A>G
NM_000071.2(CBS):c.1358+2T>C rs866630296
NM_000071.2(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.1359-18C>T rs770172764
NM_000071.2(CBS):c.1359-1G>C rs865990681
NM_000071.2(CBS):c.1359-9G>A rs202137317
NM_000071.2(CBS):c.1379C>T (p.Thr460Met)
NM_000071.2(CBS):c.1380G>A (p.Thr460=) rs765134080
NM_000071.2(CBS):c.138C>T (p.Pro46=) rs532584017
NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) rs121964971
NM_000071.2(CBS):c.1398G>A (p.Ser466=)
NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) rs201098477
NM_000071.2(CBS):c.1413G>C (p.Gly471=) rs777859460
NM_000071.2(CBS):c.1425G>A (p.Pro475=) rs147885808
NM_000071.2(CBS):c.1431C>A (p.Asp477Glu) rs1555871920
NM_000071.2(CBS):c.1436T>C (p.Val479Ala) rs886038933
NM_000071.2(CBS):c.144T>G (p.Ala48=) rs770839773
NM_000071.2(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.2(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.2(CBS):c.1453A>G (p.Lys485Glu) rs886057098
NM_000071.2(CBS):c.1467+191G>A
NM_000071.2(CBS):c.1467+255A>G
NM_000071.2(CBS):c.1467+317G>A
NM_000071.2(CBS):c.1467+38A>G rs139077204
NM_000071.2(CBS):c.1467+98_1467+128del31
NM_000071.2(CBS):c.1468-1G>A rs1057516895
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1472G>A (p.Arg491His) rs747419767
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.147G>A (p.Pro49=) rs771719483
NM_000071.2(CBS):c.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1485G>A (p.Thr495=) rs369903148
NM_000071.2(CBS):c.1494G>A (p.Arg498=) rs778800147
NM_000071.2(CBS):c.1496_1497TC[1] (p.Ser500fs) rs1555871188
NM_000071.2(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000071.2(CBS):c.151A>C (p.Arg51=)
NM_000071.2(CBS):c.1524C>T (p.Phe508=) rs748610628
NM_000071.2(CBS):c.1525G>A (p.Ala509Thr) rs1060500680
NM_000071.2(CBS):c.1526C>T (p.Ala509Val) rs794727161
NM_000071.2(CBS):c.1527C>T (p.Ala509=) rs794727162
NM_000071.2(CBS):c.152G>A (p.Arg51Lys) rs370983323
NM_000071.2(CBS):c.1539C>G (p.His513Gln) rs187828882
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.2(CBS):c.1545del (p.Ile516fs) rs1555871095
NM_000071.2(CBS):c.1551G>A (p.Gln517=)
NM_000071.2(CBS):c.1552+154T>C
NM_000071.2(CBS):c.1552+16C>T rs1555871071
NM_000071.2(CBS):c.1552+1G>A rs1434118781
NM_000071.2(CBS):c.1552+21_1552+22delTG rs1555871062
NM_000071.2(CBS):c.1553-13G>C rs766380369
NM_000071.2(CBS):c.1553-16C>T rs1057522673
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.1553-48C>T
NM_000071.2(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.2(CBS):c.1563C>T (p.Thr521=) rs773052594
NM_000071.2(CBS):c.1564G>A (p.Gly522Arg)
NM_000071.2(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.2(CBS):c.1575T>C (p.Ser525=) rs150037641
NM_000071.2(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.2(CBS):c.1593C>T (p.Phe531=) rs768230991
NM_000071.2(CBS):c.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.1597G>T (p.Val533Leu) rs1568916218
NM_000071.2(CBS):c.1603_1604del (p.Thr535fs) rs1555869934
NM_000071.2(CBS):c.1605C>T (p.Thr535=) rs769221457
NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.2(CBS):c.1626C>T (p.Phe542=) rs758818777
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.1632C>T (p.Ala544=) rs566810122
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.1644G>C (p.Arg548=) rs143945898
NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.2(CBS):c.183C>T (p.Ser61=) rs753906914
NM_000071.2(CBS):c.18C>T (p.Pro6=) rs777370660
NM_000071.2(CBS):c.18_36del (p.Glu9fs) rs1057516552
NM_000071.2(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.2(CBS):c.209+1G>A rs751464024
NM_000071.2(CBS):c.209+1G>C rs751464024
NM_000071.2(CBS):c.209+236G>A
NM_000071.2(CBS):c.209+2T>C rs1555876755
NM_000071.2(CBS):c.209+5G>C rs1555876750
NM_000071.2(CBS):c.209C>T (p.Pro70Leu) rs2229413
NM_000071.2(CBS):c.210-3C>T rs562656023
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.221C>T (p.Pro74Leu) rs762862715
NM_000071.2(CBS):c.228C>T (p.Ile76=) rs1555876151
NM_000071.2(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.2(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.2(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.2(CBS):c.28del (p.Val10fs) rs779250698
NM_000071.2(CBS):c.296T>A (p.Phe99Tyr) rs112029370
NM_000071.2(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.2(CBS):c.297C>T (p.Phe99=) rs749697783
NM_000071.2(CBS):c.2T>C (p.Met1Thr) rs769766030
NM_000071.2(CBS):c.301C>G (p.Leu101Val) rs369644531
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.2(CBS):c.313C>G (p.Leu105Val)
NM_000071.2(CBS):c.316+130G>A
NM_000071.2(CBS):c.316+1G>A rs1057516256
NM_000071.2(CBS):c.316+5G>C
NM_000071.2(CBS):c.317-22G>A rs200724824
NM_000071.2(CBS):c.317-46G>C rs75873792
NM_000071.2(CBS):c.321C>T (p.Ala107=) rs1555875422
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.33G>A (p.Gly11=) rs567323664
NM_000071.2(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.342G>A (p.Ala114=) rs145338910
NM_000071.2(CBS):c.345C>T (p.Gly115=) rs374438247
NM_000071.2(CBS):c.346G>A (p.Gly116Arg) rs760214620
NM_000071.2(CBS):c.348G>T (p.Gly116=) rs902976689
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.351C>T (p.Ser117=) rs769149281
NM_000071.2(CBS):c.352G>A (p.Val118Met) rs763385546
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.362G>A (p.Arg121His) rs770095972
NM_000071.2(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000071.2(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.2(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.2(CBS):c.373C>T (p.Arg125Trp) rs886057100
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.381T>A (p.Ile127=) rs199824647
NM_000071.2(CBS):c.384G>A (p.Glu128=) rs374593242
NM_000071.2(CBS):c.389C>T (p.Ala130Val) rs1301672360
NM_000071.2(CBS):c.393G>C (p.Glu131Asp) rs1555875351
NM_000071.2(CBS):c.394C>A (p.Arg132Ser) rs140002610
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.395G>A (p.Arg132His) rs779011920
NM_000071.2(CBS):c.397G>A (p.Asp133Asn) rs539326697
NM_000071.2(CBS):c.400G>A (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.2(CBS):c.401G>C (p.Gly134Ala) rs766958673
NM_000071.2(CBS):c.402del (p.Thr135fs) rs1057517083
NM_000071.2(CBS):c.403_404delinsG (p.Thr135fs) rs1555875325
NM_000071.2(CBS):c.404C>T (p.Thr135Met) rs144832032
NM_000071.2(CBS):c.415G>A (p.Gly139Arg) rs121964965
NM_000071.2(CBS):c.422C>T (p.Thr141Met)
NM_000071.2(CBS):c.429C>T (p.Ile143=) rs370167302
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.441C>T (p.Ser147=) rs367669819
NM_000071.2(CBS):c.442G>A (p.Gly148Arg) rs755952006
NM_000071.2(CBS):c.447C>T (p.Asn149=) rs1457546374
NM_000071.2(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.2(CBS):c.451+1G>T rs1555875292
NM_000071.2(CBS):c.451+20G>A rs1057520922
NM_000071.2(CBS):c.451+75G>A
NM_000071.2(CBS):c.451G>T (p.Gly151Trp)
NM_000071.2(CBS):c.452-12G>T rs780064320
NM_000071.2(CBS):c.452-154_623dup rs1568932440
NM_000071.2(CBS):c.456C>T (p.Ile152=) rs769438280
NM_000071.2(CBS):c.457G>A (p.Gly153Arg)
NM_000071.2(CBS):c.467del (p.Leu156fs) rs767036273
NM_000071.2(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.2(CBS):c.474G>A (p.Ala158=) rs189362155
NM_000071.2(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.2(CBS):c.494G>A (p.Cys165Tyr) rs1347651454
NM_000071.2(CBS):c.501C>T (p.Ile167=) rs754246295
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.526G>A (p.Glu176Lys) rs762065361
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.531+34G>T rs149674796
NM_000071.2(CBS):c.531G>C (p.Lys177Asn) rs1064795022
NM_000071.2(CBS):c.532-2A>G rs1568932835
NM_000071.2(CBS):c.532G>A (p.Val178Met) rs370843514
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.537C>T (p.Asp179=) rs769712423
NM_000071.2(CBS):c.538G>A (p.Val180Met)
NM_000071.2(CBS):c.539T>C (p.Val180Ala) rs1555875010
NM_000071.2(CBS):c.545G>A (p.Arg182Gln)
NM_000071.2(CBS):c.548C>T (p.Ala183Val) rs374464810
NM_000071.2(CBS):c.572C>A (p.Thr191Lys) rs121964973
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.588G>C (p.Arg196Ser)
NM_000071.2(CBS):c.599C>T (p.Pro200Leu)
NM_000071.2(CBS):c.5C>T (p.Pro2Leu) rs546530618
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
NM_000071.2(CBS):c.609C>T (p.His203=) rs142313595
NM_000071.2(CBS):c.610G>A (p.Val204Met) rs372679328
NM_000071.2(CBS):c.612G>C (p.Val204=) rs539670390
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.615G>C (p.Gly205=) rs773114442
NM_000071.2(CBS):c.616G>A (p.Val206Met) rs369220569
NM_000071.2(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.2(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.2(CBS):c.636C>G (p.Asn212Lys) rs2298758
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.650C>T (p.Ser217Phe) rs1555874874
NM_000071.2(CBS):c.65A>G (p.His22Arg) rs763151207
NM_000071.2(CBS):c.664C>T (p.Gln222Ter) rs1568932262
NM_000071.2(CBS):c.667-10_667-7delTTCT rs376011228
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.669C>T (p.Tyr223=)
NM_000071.2(CBS):c.670C>T (p.Arg224Cys) rs139456571
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000071.2(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.68C>T (p.Ser23Leu)
NM_000071.2(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000071.2(CBS):c.700G>A (p.Asp234Asn) rs773734233
NM_000071.2(CBS):c.707_708delinsGGTG (p.Thr236fs) rs1057517435
NM_000071.2(CBS):c.708C>T (p.Thr236=) rs748495689
NM_000071.2(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.2(CBS):c.72G>A (p.Ala24=) rs145466242
NM_000071.2(CBS):c.736+281A>C
NM_000071.2(CBS):c.736+282T>G
NM_000071.2(CBS):c.736+295G>A
NM_000071.2(CBS):c.736+2T>G rs863223430
NM_000071.2(CBS):c.736+5G>A rs750518463
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.737-9G>A rs781068454
NM_000071.2(CBS):c.738delG rs766453711
NM_000071.2(CBS):c.745G>A (p.Asp249Asn)
NM_000071.2(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.2(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.2(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.2(CBS):c.766G>A (p.Gly256Ser)
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.775G>A (p.Gly259Ser) rs143124288
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.786G>A (p.Thr262=) rs551782391
NM_000071.2(CBS):c.791T>C (p.Ile264Thr)
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.2(CBS):c.825C>T (p.Cys275=)
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.828+20C>T rs771093015
NM_000071.2(CBS):c.828+237C>T
NM_000071.2(CBS):c.828+23A>G rs73220911
NM_000071.2(CBS):c.828+262A>T
NM_000071.2(CBS):c.829-11G>T rs371619788
NM_000071.2(CBS):c.829-12C>T rs75616587
NM_000071.2(CBS):c.829-13G>A rs201106576
NM_000071.2(CBS):c.829-14C>T rs370697155
NM_000071.2(CBS):c.829-1G>C rs1555874263
NM_000071.2(CBS):c.829-265G>A
NM_000071.2(CBS):c.829-320G>A
NM_000071.2(CBS):c.829-3C>T rs780624117
NM_000071.2(CBS):c.829-60C>T rs12329764
NM_000071.2(CBS):c.829-91G>A
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000071.2(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAAT (p.Gly279fs) rs1555874235
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT rs864622693
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.843_844ins68 (p.?)
NM_000071.2(CBS):c.844C>T (p.Pro282Ser) rs1057518515
NM_000071.2(CBS):c.844_845ins68 (p.?)
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC rs863223428
NM_000071.2(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Glu283_Gly284insSerArgTrpGlyPheCysTrpAlaTer) rs1555874223
NM_000071.2(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Glu283_Gly284insLysGlyProSerSerGlnSerArgArgSerTer) rs786200967
NM_000071.2(CBS):c.847G>A (p.Glu283Lys)
NM_000071.2(CBS):c.856A>G (p.Ile286Val) rs147040567
NM_000071.2(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.2(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.2(CBS):c.866A>G (p.Glu289Gly)
NM_000071.2(CBS):c.874_875delinsTT (p.Glu292Leu) rs1064795178
NM_000071.2(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.2(CBS):c.888G>A (p.Thr296=) rs769593715
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.903C>G (p.Tyr301Ter) rs746575551
NM_000071.2(CBS):c.903C>T (p.Tyr301=) rs746575551
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.2(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.925G>A (p.Asp309Asn)
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.954+18C>G rs1057521202
NM_000071.2(CBS):c.954+1G>A rs1057517373
NM_000071.2(CBS):c.954+20C>T rs372327925
NM_000071.2(CBS):c.954+2T>G rs1555874121
NM_000071.2(CBS):c.954+4G>A rs770671402
NM_000071.2(CBS):c.954+5G>T rs1568928886
NM_000071.2(CBS):c.954+7C>T
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.955-108C>A
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152
NM_000071.2(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.2(CBS):c.981C>T (p.Asn327=) rs777898632
NM_000071.2(CBS):c.982G>A (p.Asp328Asn) rs758447354
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000071.2(CBS):c.992C>T (p.Ala331Val) rs777919630

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