ClinVar Miner

List of variants in gene CBS studied for homocystinuria

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1109
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1552+154T>C rs234701 0.95648
NC_000021.9:g.43076866C>G rs2850144 0.88000
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.1223+12C>T rs116578198 0.00093
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.531+19G>A rs950515567 0.00051
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.1380G>A (p.Thr460=) rs765134080 0.00038
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.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.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.1644G>C (p.Arg548=) rs143945898 0.00016
NM_000071.3(CBS):c.317-16C>G rs746289953 0.00014
NM_000071.3(CBS):c.1039+20G>A rs548871653 0.00013
NM_000071.3(CBS):c.1041T>A (p.Gly347=) rs573954005 0.00013
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.1539C>T (p.His513=) rs187828882 0.00013
NM_000071.3(CBS):c.474G>A (p.Ala158=) rs189362155 0.00013
NM_000071.3(CBS):c.489T>C (p.Tyr163=) rs61735858 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.828+16G>A rs527276612 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.1524C>T (p.Phe508=) rs748610628 0.00010
NM_000071.3(CBS):c.1575T>C (p.Ser525=) rs150037641 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.532-17C>T rs534994500 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.955-19G>A rs780694307 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.888G>A (p.Thr296=) rs769593715 0.00007
NM_000071.3(CBS):c.1039+3G>A rs747384273 0.00006
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.1266G>A (p.Pro422=) rs150146702 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.1413G>C (p.Gly471=) rs777859460 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.1626C>T (p.Phe542=) rs758818777 0.00006
NM_000071.3(CBS):c.352G>A (p.Val118Met) rs763385546 0.00006
NM_000071.3(CBS):c.452-12G>T rs780064320 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.69G>A (p.Ser23=) rs769704501 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.828+20C>T rs771093015 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.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.663C>T (p.Asp221=) rs753964840 0.00005
NM_000071.3(CBS):c.774C>T (p.Gly258=) rs764925747 0.00005
NM_000071.3(CBS):c.953C>T (p.Thr318Met) rs769541394 0.00005
NM_000071.3(CBS):c.1145+10G>A rs150863939 0.00004
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.175C>T (p.Pro59Ser) rs376496085 0.00004
NM_000071.3(CBS):c.18C>T (p.Pro6=) rs777370660 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.1040-16G>A rs755940179 0.00003
NM_000071.3(CBS):c.1040-6C>G rs767372401 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.1146-7C>T rs376749931 0.00003
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro) rs371214833 0.00003
NM_000071.3(CBS):c.1224-14C>T rs756737169 0.00003
NM_000071.3(CBS):c.1224-5C>T rs370071493 0.00003
NM_000071.3(CBS):c.1272C>T (p.Thr424=) rs141717913 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000071.3(CBS):c.1287C>T (p.Ile429=) rs770442169 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000071.3(CBS):c.1326C>G (p.Gly442=) rs750627927 0.00003
NM_000071.3(CBS):c.1356G>A (p.Ala452=) rs776322450 0.00003
NM_000071.3(CBS):c.1359-18C>T rs770172764 0.00003
NM_000071.3(CBS):c.1359-9G>A rs202137317 0.00003
NM_000071.3(CBS):c.1410C>T (p.Ala470=) rs773019624 0.00003
NM_000071.3(CBS):c.1464A>G (p.Lys488=) rs771312041 0.00003
NM_000071.3(CBS):c.147G>A (p.Pro49=) rs771719483 0.00003
NM_000071.3(CBS):c.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.1485G>A (p.Thr495=) rs369903148 0.00003
NM_000071.3(CBS):c.152G>A (p.Arg51Lys) rs370983323 0.00003
NM_000071.3(CBS):c.1563C>T (p.Thr521=) rs773052594 0.00003
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg) rs748953468 0.00003
NM_000071.3(CBS):c.209C>T (p.Pro70Leu) rs2229413 0.00003
NM_000071.3(CBS):c.210-16G>T rs183972299 0.00003
NM_000071.3(CBS):c.296T>C (p.Phe99Ser) rs112029370 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.396C>T (p.Arg132=) rs754758476 0.00003
NM_000071.3(CBS):c.412C>T (p.Pro138Ser) rs765702034 0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 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.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.609C>T (p.His203=) rs142313595 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.708C>T (p.Thr236=) rs748495689 0.00003
NM_000071.3(CBS):c.717G>A (p.Glu239=) rs372797469 0.00003
NM_000071.3(CBS):c.737-1G>C rs757428597 0.00003
NM_000071.3(CBS):c.737-9G>A rs781068454 0.00003
NM_000071.3(CBS):c.771G>A (p.Thr257=) rs375004389 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.903C>T (p.Tyr301=) rs746575551 0.00003
NM_000071.3(CBS):c.918C>T (p.Ile306=) rs201950895 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.1040-7T>C rs750399521 0.00002
NM_000071.3(CBS):c.1209G>A (p.Thr403=) rs199967147 0.00002
NM_000071.3(CBS):c.1251G>A (p.Leu417=) rs764079534 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.1359-10C>T rs781475420 0.00002
NM_000071.3(CBS):c.1467+10C>T rs778008141 0.00002
NM_000071.3(CBS):c.1593C>T (p.Phe531=) rs768230991 0.00002
NM_000071.3(CBS):c.1605C>T (p.Thr535=) rs769221457 0.00002
NM_000071.3(CBS):c.183C>T (p.Ser61=) rs753906914 0.00002
NM_000071.3(CBS):c.297C>T (p.Phe99=) rs749697783 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.351C>T (p.Ser117=) rs769149281 0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys) rs775992753 0.00002
NM_000071.3(CBS):c.381T>A (p.Ile127=) rs199824647 0.00002
NM_000071.3(CBS):c.384G>A (p.Glu128=) rs374593242 0.00002
NM_000071.3(CBS):c.405G>A (p.Thr135=) rs940663649 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000071.3(CBS):c.441C>T (p.Ser147=) rs367669819 0.00002
NM_000071.3(CBS):c.451+19G>T rs765760722 0.00002
NM_000071.3(CBS):c.51C>T (p.His17=) rs762239336 0.00002
NM_000071.3(CBS):c.532-13T>C rs757869040 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.637G>A (p.Glu213Lys) rs758703098 0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs) rs775351239 0.00002
NM_000071.3(CBS):c.720C>A (p.Ile240=) rs769024492 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.981C>T (p.Asn327=) rs777898632 0.00002
NM_000071.3(CBS):c.1005C>T (p.Ala335=) rs753731849 0.00001
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.1020G>A (p.Ala340=) rs768294788 0.00001
NM_000071.3(CBS):c.1029G>C (p.Gly343=) rs1332776421 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.1145+9C>T rs745997797 0.00001
NM_000071.3(CBS):c.1146-5C>T rs941685349 0.00001
NM_000071.3(CBS):c.1155C>T (p.Phe385=) rs754691256 0.00001
NM_000071.3(CBS):c.1224-6C>T rs755369737 0.00001
NM_000071.3(CBS):c.126G>C (p.Leu42=) rs752812436 0.00001
NM_000071.3(CBS):c.1299C>T (p.His433=) rs1188405012 0.00001
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp) rs1324151005 0.00001
NM_000071.3(CBS):c.1329C>T (p.Phe443=) rs747186128 0.00001
NM_000071.3(CBS):c.1332C>T (p.Asp444=) rs1060503998 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.1398G>A (p.Ser466=) rs766199408 0.00001
NM_000071.3(CBS):c.144T>G (p.Ala48=) rs770839773 0.00001
NM_000071.3(CBS):c.1452C>T (p.Tyr484=) rs776806222 0.00001
NM_000071.3(CBS):c.1478C>T (p.Thr493Met) rs996249907 0.00001
NM_000071.3(CBS):c.1497C>G (p.Leu499=) rs1477206467 0.00001
NM_000071.3(CBS):c.1551G>A (p.Gln517=) rs750311684 0.00001
NM_000071.3(CBS):c.1553-13G>A rs766380369 0.00001
NM_000071.3(CBS):c.15C>T (p.Thr5=) rs137920248 0.00001
NM_000071.3(CBS):c.1600G>A (p.Val534Ile) rs779569366 0.00001
NM_000071.3(CBS):c.168G>A (p.Leu56=) rs752055364 0.00001
NM_000071.3(CBS):c.172C>T (p.Arg58Trp) rs555959266 0.00001
NM_000071.3(CBS):c.180C>T (p.Ala60=) rs755282601 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.34C>T (p.Pro12Ser) rs558259739 0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp) rs886057100 0.00001
NM_000071.3(CBS):c.390T>C (p.Ala130=) rs758553912 0.00001
NM_000071.3(CBS):c.395G>A (p.Arg132His) rs779011920 0.00001
NM_000071.3(CBS):c.399C>T (p.Asp133=) rs200362321 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.447C>T (p.Asn149=) rs1457546374 0.00001
NM_000071.3(CBS):c.463G>A (p.Ala155Thr) rs1429138569 0.00001
NM_000071.3(CBS):c.473C>T (p.Ala158Val) rs1376851289 0.00001
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr) rs1347651454 0.00001
NM_000071.3(CBS):c.505A>T (p.Met169Leu) rs1371228792 0.00001
NM_000071.3(CBS):c.532-8T>C rs775695225 0.00001
NM_000071.3(CBS):c.548C>T (p.Ala183Val) rs374464810 0.00001
NM_000071.3(CBS):c.564T>C (p.Ile188=) rs771803581 0.00001
NM_000071.3(CBS):c.632A>G (p.Lys211Arg) rs201118737 0.00001
NM_000071.3(CBS):c.666+10C>A rs773040114 0.00001
NM_000071.3(CBS):c.675C>T (p.Asn225=) rs145303290 0.00001
NM_000071.3(CBS):c.676G>C (p.Ala226Pro) rs763835246 0.00001
NM_000071.3(CBS):c.684C>G (p.Asn228Lys) rs1464223176 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.72G>A (p.Ala24=) rs145466242 0.00001
NM_000071.3(CBS):c.736+1G>A rs1166621523 0.00001
NM_000071.3(CBS):c.736+4C>T rs756191746 0.00001
NM_000071.3(CBS):c.736+5G>A rs750518463 0.00001
NM_000071.3(CBS):c.736+6T>C rs201727754 0.00001
NM_000071.3(CBS):c.736+7C>T rs757332652 0.00001
NM_000071.3(CBS):c.737-11C>T rs769967427 0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) rs121964969 0.00001
NM_000071.3(CBS):c.79_81dup (p.Ser27dup) rs754535608 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000071.3(CBS):c.829-3C>T rs780624117 0.00001
NM_000071.3(CBS):c.840G>A (p.Val280=) rs1060500682 0.00001
NM_000071.3(CBS):c.870G>A (p.Pro290=) rs773580068 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000071.3(CBS):c.984T>C (p.Asp328=) rs752829651 0.00001
NM_000071.3(CBS):c.993G>A (p.Ala331=) rs759398443 0.00001
NC_000021.8:g.(?_44472301)_(44497040_?)dup
NC_000021.8:g.(?_44473450)_(44485825_?)del
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.8:g.(?_44473990)_(44474113_?)del
NC_000021.8:g.(?_44476893)_(44480676_?)del
NC_000021.8:g.(?_44478245)_(44485815_?)del
NC_000021.8:g.(?_44479024)_(44485181_?)del
NC_000021.8:g.(?_44479686)_(44483266_?)del
NC_000021.8:g.(?_44480531)_(44482525_?)del
NC_000021.8:g.(?_44485540)_(44485959_?)dup
NC_000021.8:g.(?_44486453)_(44486477_?)del
NC_000021.8:g.(?_44488599)_(44492323_?)del
NC_000021.8:g.(?_44492075)_(44492303_?)del
NC_000021.8:g.(?_44492085)_(44496976_?)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
NC_000021.9:g.43063088_43063089insTGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGG
NC_000021.9:g.43063089_43063090insACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGC
NC_000021.9:g.43063090_43063091insGGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG
NC_000021.9:g.43063090_43063091insTGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG
NC_000021.9:g.43063091_43063092insAGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGC
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCCCCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGCTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NM_000071.2(CBS):c.-242T>C rs1983687076
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGAGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
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.*55_*57del rs886057097
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.*98CTGGC[1] rs71872941
NM_000071.3(CBS):c.-50dup rs886057101
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.1005_1006delinsTT (p.Arg336Cys) rs1064793703
NM_000071.3(CBS):c.1006C>A (p.Arg336Ser)
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.1007G>T (p.Arg336Leu)
NM_000071.3(CBS):c.1008C>A (p.Arg336=)
NM_000071.3(CBS):c.1008C>T (p.Arg336=)
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.1013T>C (p.Leu338Pro)
NM_000071.3(CBS):c.1014G>A (p.Leu338=) rs761405806
NM_000071.3(CBS):c.1017C>T (p.Ile339=) rs773933333
NM_000071.3(CBS):c.1020G>T (p.Ala340=)
NM_000071.3(CBS):c.102G>A (p.Glu34=)
NM_000071.3(CBS):c.1035G>A (p.Leu345=) rs746340769
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)
NM_000071.3(CBS):c.1039+10T>C rs1343344368
NM_000071.3(CBS):c.1039+13C>A
NM_000071.3(CBS):c.1039+13C>T
NM_000071.3(CBS):c.1039+14G>A
NM_000071.3(CBS):c.1039+19C>A
NM_000071.3(CBS):c.1039+19C>G
NM_000071.3(CBS):c.1039+1G>A
NM_000071.3(CBS):c.1039+1G>T rs2146362992
NM_000071.3(CBS):c.1039+20G>T
NM_000071.3(CBS):c.1039+2T>C
NM_000071.3(CBS):c.1039+2T>G
NM_000071.3(CBS):c.1039+5G>C rs777956934
NM_000071.3(CBS):c.1039+6T>G rs1601349690
NM_000071.3(CBS):c.1039+7G>A
NM_000071.3(CBS):c.1039+7G>C rs2146362915
NM_000071.3(CBS):c.1039+9G>A
NM_000071.3(CBS):c.103G>A (p.Asp35Asn)
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
NM_000071.3(CBS):c.1040-10C>T rs1601344657
NM_000071.3(CBS):c.1040-10CT[2]
NM_000071.3(CBS):c.1040-13G>A
NM_000071.3(CBS):c.1040-15_1040-13del
NM_000071.3(CBS):c.1040-17C>T
NM_000071.3(CBS):c.1040-2A>G
NM_000071.3(CBS):c.1040G>C (p.Gly347Ala)
NM_000071.3(CBS):c.1041T>C (p.Gly347=) rs573954005
NM_000071.3(CBS):c.1045A>G (p.Ser349Gly)
NM_000071.3(CBS):c.1047T>G (p.Ser349Arg)
NM_000071.3(CBS):c.1056C>G (p.Ser352Arg)
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del) rs863223436
NM_000071.3(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.3(CBS):c.1065G>C (p.Ala355=) rs748552493
NM_000071.3(CBS):c.106A>G (p.Lys36Glu) rs904453895
NM_000071.3(CBS):c.1071C>G (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1071C>T (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1074G>C (p.Val358=) rs570135008
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)
NM_000071.3(CBS):c.1076A>T (p.Lys359Met) rs779940364
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.1087del (p.Glu363fs) rs1064794540
NM_000071.3(CBS):c.1089G>A (p.Glu363=) rs1601343953
NM_000071.3(CBS):c.1090C>T (p.Leu364=)
NM_000071.3(CBS):c.1090_1098dup (p.Leu364_Glu366dup) rs2146352325
NM_000071.3(CBS):c.1098G>A (p.Glu366=) rs1601343873
NM_000071.3(CBS):c.1108T>C (p.Cys370Arg)
NM_000071.3(CBS):c.1111G>C (p.Val371Leu)
NM_000071.3(CBS):c.1113G>A (p.Val371=)
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.1116C>G (p.Val372=)
NM_000071.3(CBS):c.1125C>G (p.Pro375=) rs146180894
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn) rs1170128038
NM_000071.3(CBS):c.1135C>G (p.Arg379Gly)
NM_000071.3(CBS):c.1141T>C (p.Tyr381His) rs267606145
NM_000071.3(CBS):c.1145+10G>C
NM_000071.3(CBS):c.1145+12C>T
NM_000071.3(CBS):c.1145+16C>T
NM_000071.3(CBS):c.1145+17C>G
NM_000071.3(CBS):c.1145+17C>T
NM_000071.3(CBS):c.1145+19C>T
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1145+1G>C
NM_000071.3(CBS):c.1145+8dup
NM_000071.3(CBS):c.1145+9C>A
NM_000071.3(CBS):c.1146-10C>G rs1379534542
NM_000071.3(CBS):c.1146-10C>T
NM_000071.3(CBS):c.1146-11C>T
NM_000071.3(CBS):c.1146-13C>T
NM_000071.3(CBS):c.1146-19T>G
NM_000071.3(CBS):c.1146-20G>A rs1057522600
NM_000071.3(CBS):c.1146-3C>T rs2146344469
NM_000071.3(CBS):c.1146-4G>C
NM_000071.3(CBS):c.1146-4G>T
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.3(CBS):c.1149C>T (p.Thr383=) rs2146344423
NM_000071.3(CBS):c.114C>G (p.Ala38=) rs2146428122
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu) rs121964967
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn) rs1304669003
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
NM_000071.3(CBS):c.1164C>T (p.Asp388=) rs2146344263
NM_000071.3(CBS):c.1165A>C (p.Arg389=) rs1601339535
NM_000071.3(CBS):c.1169G>A (p.Trp390Ter) rs2146344203
NM_000071.3(CBS):c.1174C>T (p.Leu392=)
NM_000071.3(CBS):c.1179G>T (p.Gln393His) rs2146344173
NM_000071.3(CBS):c.1179del (p.Lys394fs)
NM_000071.3(CBS):c.117G>A (p.Lys39=) rs2146428109
NM_000071.3(CBS):c.1182G>A (p.Lys394=)
NM_000071.3(CBS):c.1188T>C (p.Phe396=)
NM_000071.3(CBS):c.118del (p.Glu40fs)
NM_000071.3(CBS):c.1191G>T (p.Leu397=)
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del) rs745438246
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys) rs1485255027
NM_000071.3(CBS):c.1200G>A (p.Glu400=)
NM_000071.3(CBS):c.1208C>A (p.Thr403Lys) rs886042297
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.1212G>C (p.Glu404Asp)
NM_000071.3(CBS):c.1213A>C (p.Lys405Gln) rs570121873
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.1221C>G (p.Pro407=)
NM_000071.3(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.3(CBS):c.1223+10C>T
NM_000071.3(CBS):c.1223+123_1224-87del rs1416544817
NM_000071.3(CBS):c.1223+13G>T
NM_000071.3(CBS):c.1223+16C>T
NM_000071.3(CBS):c.1223+17G>A
NM_000071.3(CBS):c.1223+19A>G rs2146343442
NM_000071.3(CBS):c.1223+1G>T rs1601339216
NM_000071.3(CBS):c.1223+7C>T rs2146343623
NM_000071.3(CBS):c.1223+8C>A rs747888658
NM_000071.3(CBS):c.1223+8C>T rs747888658
NM_000071.3(CBS):c.1223+9G>A rs1000757478
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.3(CBS):c.1224-12C>T rs779601404
NM_000071.3(CBS):c.1224-13C>T
NM_000071.3(CBS):c.1224-14C>G
NM_000071.3(CBS):c.1224-20G>A
NM_000071.3(CBS):c.1224-20G>T
NM_000071.3(CBS):c.1224-7C>T
NM_000071.3(CBS):c.1226G>A (p.Trp409Ter) rs376916741
NM_000071.3(CBS):c.1227G>A (p.Trp409Ter) rs1332950288
NM_000071.3(CBS):c.1227_1240del (p.Trp409fs)
NM_000071.3(CBS):c.1229G>A (p.Trp410Ter)
NM_000071.3(CBS):c.1233C>T (p.His411=) rs2146342075
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.3(CBS):c.1238G>A (p.Arg413His)
NM_000071.3(CBS):c.1239T>A (p.Arg413=)
NM_000071.3(CBS):c.1239T>C (p.Arg413=) rs2146341997
NM_000071.3(CBS):c.1245G>A (p.Gln415=)
NM_000071.3(CBS):c.1251G>C (p.Leu417=)
NM_000071.3(CBS):c.1252G>A (p.Gly418Ser) rs1200734227
NM_000071.3(CBS):c.1257G>C (p.Leu419=) rs138432416
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)
NM_000071.3(CBS):c.1260A>C (p.Ser420=) rs1060503997
NM_000071.3(CBS):c.1260A>G (p.Ser420=) rs1060503997
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.126G>A (p.Leu42=)
NM_000071.3(CBS):c.1272C>G (p.Thr424=) rs141717913
NM_000071.3(CBS):c.1273G>C (p.Val425Leu)
NM_000071.3(CBS):c.1288_1289del (p.Thr430fs)
NM_000071.3(CBS):c.1290C>T (p.Thr430=) rs746564702
NM_000071.3(CBS):c.1296G>T (p.Gly432=)
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.1305C>A (p.Ile435=) rs769351162
NM_000071.3(CBS):c.1305C>T (p.Ile435=) rs769351162
NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)
NM_000071.3(CBS):c.1311C>T (p.Ile437=)
NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)
NM_000071.3(CBS):c.1320G>A (p.Glu440=) rs2146340988
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter) rs1057516645
NM_000071.3(CBS):c.1323G>A (p.Lys441=) rs2146340959
NM_000071.3(CBS):c.132C>T (p.Ile44=)
NM_000071.3(CBS):c.1338G>T (p.Ala446=) rs373962057
NM_000071.3(CBS):c.1341C>G (p.Pro447=)
NM_000071.3(CBS):c.1341del (p.Val448fs) rs2146340713
NM_000071.3(CBS):c.1344G>A (p.Val448=)
NM_000071.3(CBS):c.1355C>T (p.Ala452Val)
NM_000071.3(CBS):c.1356G>C (p.Ala452=)
NM_000071.3(CBS):c.1356G>T (p.Ala452=) rs776322450
NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp) rs886057099
NM_000071.3(CBS):c.1358+15C>A rs186497436
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.1358+7C>G rs1341743668
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.3(CBS):c.1359-10del
NM_000071.3(CBS):c.1359-13C>T
NM_000071.3(CBS):c.1359-1G>C rs865990681
NM_000071.3(CBS):c.1359-2A>T
NM_000071.3(CBS):c.1359-8T>C rs566872403
NM_000071.3(CBS):c.1359-9G>C
NM_000071.3(CBS):c.1359G>C (p.Gly453=) rs1307473439
NM_000071.3(CBS):c.135G>T (p.Arg45=) rs2146427946
NM_000071.3(CBS):c.1361T>A (p.Val454Glu)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro) rs1981524462
NM_000071.3(CBS):c.1368G>A (p.Leu456=) rs199941488
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
NM_000071.3(CBS):c.1377G>C (p.Val459=)
NM_000071.3(CBS):c.1380G>T (p.Thr460=) rs765134080
NM_000071.3(CBS):c.1381C>T (p.Leu461Phe)
NM_000071.3(CBS):c.1382T>G (p.Leu461Arg)
NM_000071.3(CBS):c.138C>G (p.Pro46=)
NM_000071.3(CBS):c.138C>T (p.Pro46=) rs532584017
NM_000071.3(CBS):c.1391dup (p.Met464fs)
NM_000071.3(CBS):c.1395C>G (p.Leu465=) rs1601335326
NM_000071.3(CBS):c.1395C>T (p.Leu465=) rs1601335326
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter) rs121964971
NM_000071.3(CBS):c.139G>A (p.Asp47Asn)
NM_000071.3(CBS):c.13A>G (p.Thr5Ala) rs2146429088
NM_000071.3(CBS):c.140A>C (p.Asp47Ala) rs2146427913
NM_000071.3(CBS):c.1413G>A (p.Gly471=) rs777859460
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
NM_000071.3(CBS):c.1436T>C (p.Val479Ala) rs886038933
NM_000071.3(CBS):c.1448T>C (p.Ile483Thr)
NM_000071.3(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.3(CBS):c.1453A>G (p.Lys485Glu) rs886057098
NM_000071.3(CBS):c.1454A>G (p.Lys485Arg)
NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)
NM_000071.3(CBS):c.1457A>G (p.Gln486Arg) rs2146337741
NM_000071.3(CBS):c.1467+11A>G
NM_000071.3(CBS):c.1467+11dup
NM_000071.3(CBS):c.1467+12C>A
NM_000071.3(CBS):c.1467+13C>G
NM_000071.3(CBS):c.1467+16C>T
NM_000071.3(CBS):c.1467+18_1467+79del
NM_000071.3(CBS):c.1467+19G>A
NM_000071.3(CBS):c.1467+1G>A rs111687029
NM_000071.3(CBS):c.1467+4C>T rs1981503515
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
NM_000071.3(CBS):c.1468-13G>A
NM_000071.3(CBS):c.1468-14C>T
NM_000071.3(CBS):c.1468-17C>T
NM_000071.3(CBS):c.1468-1G>A rs1057516895
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
NM_000071.3(CBS):c.1479G>T (p.Thr493=) rs143225442
NM_000071.3(CBS):c.1486C>T (p.Leu496=)
NM_000071.3(CBS):c.1488G>A (p.Leu496=)
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs) rs1555871188
NM_000071.3(CBS):c.14C>A (p.Thr5Asn)
NM_000071.3(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1500G>C (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
NM_000071.3(CBS):c.1507C>T (p.Leu503=)
NM_000071.3(CBS):c.1514T>G (p.Met505Arg) rs1981234989
NM_000071.3(CBS):c.1527C>T (p.Ala509=) rs794727162
NM_000071.3(CBS):c.1530G>T (p.Leu510=) rs2146328130
NM_000071.3(CBS):c.1536G>T (p.Val512=)
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
NM_000071.3(CBS):c.153G>A (p.Arg51=) rs748795053
NM_000071.3(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.3(CBS):c.1543C>T (p.Gln515Ter)
NM_000071.3(CBS):c.1545del (p.Ile516fs) rs1555871095
NM_000071.3(CBS):c.1549del (p.Gln517fs)
NM_000071.3(CBS):c.154T>A (p.Cys52Ser) rs2146427772
NM_000071.3(CBS):c.1552+10G>T
NM_000071.3(CBS):c.1552+11C>T
NM_000071.3(CBS):c.1552+12C>G
NM_000071.3(CBS):c.1552+15G>A
NM_000071.3(CBS):c.1552+1G>A rs1434118781
NM_000071.3(CBS):c.1552+20G>C
NM_000071.3(CBS):c.1552+5G>A
NM_000071.3(CBS):c.1552+7G>T
NM_000071.3(CBS):c.1552+8G>A
NM_000071.3(CBS):c.1552+9G>A
NM_000071.3(CBS):c.1553-11T>C
NM_000071.3(CBS):c.1553-14C>T
NM_000071.3(CBS):c.1553-16C>T rs1057522673
NM_000071.3(CBS):c.1553-18G>A
NM_000071.3(CBS):c.1553-1G>C rs1555869979
NM_000071.3(CBS):c.1553-20C>A
NM_000071.3(CBS):c.1553-2A>C rs760609383
NM_000071.3(CBS):c.1553-5C>G
NM_000071.3(CBS):c.1553-5C>T
NM_000071.3(CBS):c.1553-6C>T rs2146316045
NM_000071.3(CBS):c.1553-9T>A
NM_000071.3(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.3(CBS):c.1561del (p.Thr521fs)
NM_000071.3(CBS):c.1566G>A (p.Gly522=)
NM_000071.3(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.3(CBS):c.156C>A (p.Cys52Ter) rs1983442077
NM_000071.3(CBS):c.1572C>G (p.Ser524=)
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys) rs1555869958
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.3(CBS):c.1579C>A (p.Arg527=) rs1455031864
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp) rs1455031864
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln) rs551198487
NM_000071.3(CBS):c.1581G>T (p.Arg527=) rs2146315789
NM_000071.3(CBS):c.1582C>T (p.Gln528Ter)
NM_000071.3(CBS):c.1584G>A (p.Gln528=) rs2146315777
NM_000071.3(CBS):c.1597G>T (p.Val533Leu) rs1568916218
NM_000071.3(CBS):c.1599G>A (p.Val533=)
NM_000071.3(CBS):c.15C>G (p.Thr5=)
NM_000071.3(CBS):c.1602C>T (p.Val534=)
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.1633G>A (p.Ala545Thr)
NM_000071.3(CBS):c.1634C>T (p.Ala545Val) rs754031824
NM_000071.3(CBS):c.1638G>A (p.Gln546=) rs2146315419
NM_000071.3(CBS):c.1641G>A (p.Glu547=) rs2146315391
NM_000071.3(CBS):c.1645G>A (p.Asp549Asn) rs1980865900
NM_000071.3(CBS):c.1647C>T (p.Asp549=) rs2146315284
NM_000071.3(CBS):c.1648C>A (p.Gln550Lys)
NM_000071.3(CBS):c.1650G>A (p.Gln550=)
NM_000071.3(CBS):c.1653G>A (p.Lys551=) rs2146315248
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.3(CBS):c.165G>A (p.Gln55=) rs755690693
NM_000071.3(CBS):c.170G>A (p.Gly57Asp) rs1295461215
NM_000071.3(CBS):c.177T>G (p.Pro59=)
NM_000071.3(CBS):c.179C>T (p.Ala60Val) rs765352771
NM_000071.3(CBS):c.183C>A (p.Ser61=) rs753906914
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
NM_000071.3(CBS):c.184dup (p.Glu62fs) rs2146427417
NM_000071.3(CBS):c.18_36del (p.Glu9fs) rs1057516552
NM_000071.3(CBS):c.194A>G (p.His65Arg) rs1191141364
NM_000071.3(CBS):c.194A>T (p.His65Leu)
NM_000071.3(CBS):c.198C>T (p.His66=)
NM_000071.3(CBS):c.19del (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.201C>T (p.His67=)
NM_000071.3(CBS):c.208_209+8del rs1983427704
NM_000071.3(CBS):c.209+13T>C
NM_000071.3(CBS):c.209+17A>C
NM_000071.3(CBS):c.209+19C>T
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+1_209+8del rs2146427112
NM_000071.3(CBS):c.209+20A>T
NM_000071.3(CBS):c.209+2T>C rs1555876755
NM_000071.3(CBS):c.209+5G>C rs1555876750
NM_000071.3(CBS):c.209+7C>T rs374583085
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
NM_000071.3(CBS):c.209dup (p.Ala71fs)
NM_000071.3(CBS):c.210-12C>T
NM_000071.3(CBS):c.210-17G>T
NM_000071.3(CBS):c.210-19G>C
NM_000071.3(CBS):c.210-1G>C rs2146414477
NM_000071.3(CBS):c.210-2A>C
NM_000071.3(CBS):c.216A>G (p.Lys72=) rs1983118913
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
NM_000071.3(CBS):c.21G>A (p.Gln7=)
NM_000071.3(CBS):c.228C>T (p.Ile76=) rs1555876151
NM_000071.3(CBS):c.229T>C (p.Leu77=) rs2146414238
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
NM_000071.3(CBS):c.23C>T (p.Ala8Val) rs919403971
NM_000071.3(CBS):c.240T>A (p.Ile80=) rs1601375896
NM_000071.3(CBS):c.243G>C (p.Leu81=) rs2146414153
NM_000071.3(CBS):c.252C>T (p.Ile84=) rs1180701001
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.3(CBS):c.256del (p.Asp86fs) rs1208139876
NM_000071.3(CBS):c.258dup (p.Thr87fs)
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.262C>T (p.Pro88Ser) rs2146413970
NM_000071.3(CBS):c.263C>G (p.Pro88Arg)
NM_000071.3(CBS):c.279C>T (p.Asn93=) rs1983108444
NM_000071.3(CBS):c.282G>A (p.Lys94=)
NM_000071.3(CBS):c.284T>A (p.Ile95Asn)
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.28G>T (p.Val10Leu)
NM_000071.3(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.3(CBS):c.298G>A (p.Gly100Ser)
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.30G>A (p.Val10=)
NM_000071.3(CBS):c.312G>A (p.Glu104=) rs2146413583
NM_000071.3(CBS):c.313C>G (p.Leu105Val) rs1601375543
NM_000071.3(CBS):c.316+18G>A
NM_000071.3(CBS):c.316+19G>A
NM_000071.3(CBS):c.316+1G>A rs1057516256
NM_000071.3(CBS):c.316+2_316+3del
NM_000071.3(CBS):c.316+586A>G
NM_000071.3(CBS):c.316+5G>C rs1601375508
NM_000071.3(CBS):c.316+7G>A rs1601375483
NM_000071.3(CBS):c.316+7G>T
NM_000071.3(CBS):c.316+9C>T
NM_000071.3(CBS):c.317-10T>C rs2146395626
NM_000071.3(CBS):c.317-15A>G rs2146395668
NM_000071.3(CBS):c.317-15A>T
NM_000071.3(CBS):c.317-21_317-20del
NM_000071.3(CBS):c.317-2A>G rs2146395543
NM_000071.3(CBS):c.317-3del
NM_000071.3(CBS):c.317-4C>T rs1368026782
NM_000071.3(CBS):c.317-8C>G rs1601366707
NM_000071.3(CBS):c.317-8C>T rs1601366707
NM_000071.3(CBS):c.321C>T (p.Ala107=) rs1555875422
NM_000071.3(CBS):c.323A>G (p.Lys108Arg) rs2146395442
NM_000071.3(CBS):c.323del (p.Lys108fs)
NM_000071.3(CBS):c.324G>A (p.Lys108=)
NM_000071.3(CBS):c.326G>A (p.Cys109Tyr)
NM_000071.3(CBS):c.330G>A (p.Glu110=) rs2146395397
NM_000071.3(CBS):c.333C>T (p.Phe111=)
NM_000071.3(CBS):c.33G>C (p.Gly11=)
NM_000071.3(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.3(CBS):c.340G>T (p.Ala114Ser) rs377708532
NM_000071.3(CBS):c.344G>A (p.Gly115Asp)
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.361C>G (p.Arg121Gly)
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000071.3(CBS):c.366C>T (p.Ile122=)
NM_000071.3(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.3(CBS):c.369C>T (p.Ser123=) rs1555875387
NM_000071.3(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.3(CBS):c.379del (p.Ile127fs)
NM_000071.3(CBS):c.381T>G (p.Ile127Met) rs199824647
NM_000071.3(CBS):c.382G>T (p.Glu128Ter)
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.405G>T (p.Thr135=) rs940663649
NM_000071.3(CBS):c.405_406delinsTT (p.Thr135_Leu136=) rs2146394141
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)
NM_000071.3(CBS):c.407del (p.Leu136fs)
NM_000071.3(CBS):c.408G>A (p.Leu136=)
NM_000071.3(CBS):c.414C>G (p.Pro138=)
NM_000071.3(CBS):c.414C>T (p.Pro138=) rs201860288
NM_000071.3(CBS):c.421A>G (p.Thr141Ala) rs2146393956
NM_000071.3(CBS):c.423G>A (p.Thr141=)
NM_000071.3(CBS):c.423G>C (p.Thr141=) rs773579814
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
NM_000071.3(CBS):c.427dup (p.Ile143fs) rs2146393861
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>G (p.Pro145Arg)
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000071.3(CBS):c.435G>T (p.Pro145=)
NM_000071.3(CBS):c.437del (p.Thr146fs)
NM_000071.3(CBS):c.438A>C (p.Thr146=)
NM_000071.3(CBS):c.441C>A (p.Ser147=) rs367669819
NM_000071.3(CBS):c.443G>C (p.Gly148Ala)
NM_000071.3(CBS):c.444G>A (p.Gly148=) rs2146393601
NM_000071.3(CBS):c.444dup (p.Asn149fs) rs2146393621
NM_000071.3(CBS):c.450C>A (p.Thr150=)
NM_000071.3(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.3(CBS):c.451+11G>A
NM_000071.3(CBS):c.451+16A>T
NM_000071.3(CBS):c.451+1G>T rs1555875292
NM_000071.3(CBS):c.451+20G>A rs1057520922
NM_000071.3(CBS):c.451+20G>C
NM_000071.3(CBS):c.451+20G>T rs1057520922
NM_000071.3(CBS):c.451+7G>A
NM_000071.3(CBS):c.451+8C>T rs1268489943
NM_000071.3(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.3(CBS):c.452-14C>G
NM_000071.3(CBS):c.452-153_624dup rs1568932440
NM_000071.3(CBS):c.452-16C>T rs1298903868
NM_000071.3(CBS):c.452-17C>T
NM_000071.3(CBS):c.452-18C>A
NM_000071.3(CBS):c.452-19A>G
NM_000071.3(CBS):c.452-1G>A
NM_000071.3(CBS):c.452-2A>C
NM_000071.3(CBS):c.452-4T>C rs2146388397
NM_000071.3(CBS):c.456C>G (p.Ile152Met)
NM_000071.3(CBS):c.456_477del (p.Ile152fs) rs2146387963
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.465C>A (p.Ala155=)
NM_000071.3(CBS):c.465C>T (p.Ala155=) rs962625978
NM_000071.3(CBS):c.467del (p.Leu156fs) rs767036273
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.472G>A (p.Ala158Thr)
NM_000071.3(CBS):c.474G>C (p.Ala158=) rs189362155
NM_000071.3(CBS):c.476_477insCAGGGCCC (p.Val160fs) rs1982618780
NM_000071.3(CBS):c.481del (p.Arg161fs) rs2146387904
NM_000071.3(CBS):c.492C>G (p.Arg164=)
NM_000071.3(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.3(CBS):c.495C>T (p.Cys165=)
NM_000071.3(CBS):c.49C>A (p.His17Asn) rs2146428735
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.503_504del (p.Val168fs)
NM_000071.3(CBS):c.504G>A (p.Val168=)
NM_000071.3(CBS):c.518T>G (p.Met173Arg) rs1982605960
NM_000071.3(CBS):c.522C>T (p.Ser174=)
NM_000071.3(CBS):c.525C>G (p.Ser175=)
NM_000071.3(CBS):c.526G>A (p.Glu176Lys) rs762065361
NM_000071.3(CBS):c.526G>C (p.Glu176Gln)
NM_000071.3(CBS):c.526G>T (p.Glu176Ter) rs762065361
NM_000071.3(CBS):c.527A>G (p.Glu176Gly)
NM_000071.3(CBS):c.528G>C (p.Glu176Asp)
NM_000071.3(CBS):c.529A>T (p.Lys177Ter) rs1982601982
NM_000071.3(CBS):c.52C>A (p.Arg18Ser) rs201827340
NM_000071.3(CBS):c.530A>C (p.Lys177Thr)
NM_000071.3(CBS):c.531+10C>T
NM_000071.3(CBS):c.531+12T>A
NM_000071.3(CBS):c.531+15C>T
NM_000071.3(CBS):c.531+16C>A
NM_000071.3(CBS):c.531+17del
NM_000071.3(CBS):c.531+19G>T
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.531+1G>T rs1207298097
NM_000071.3(CBS):c.531+8G>A
NM_000071.3(CBS):c.532-16G>A rs373834235
NM_000071.3(CBS):c.532-16G>T
NM_000071.3(CBS):c.532-18C>A
NM_000071.3(CBS):c.532-19A>G
NM_000071.3(CBS):c.532-1G>A rs2146385603
NM_000071.3(CBS):c.532-2A>G rs1568932835
NM_000071.3(CBS):c.532-7C>G
NM_000071.3(CBS):c.532G>A (p.Val178Met) rs370843514
NM_000071.3(CBS):c.534G>T (p.Val178=) rs1982572494
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.542T>C (p.Leu181Pro)
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
NM_000071.3(CBS):c.546G>A (p.Arg182=) rs2146385311
NM_000071.3(CBS):c.54C>T (p.Arg18=) rs1601384537
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
NM_000071.3(CBS):c.555G>T (p.Gly185=) rs1291496530
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
NM_000071.3(CBS):c.576C>T (p.Pro192=)
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
NM_000071.3(CBS):c.582T>C (p.Asn194=)
NM_000071.3(CBS):c.585C>G (p.Ala195=)
NM_000071.3(CBS):c.586A>C (p.Arg196=)
NM_000071.3(CBS):c.588del (p.Arg196fs)
NM_000071.3(CBS):c.591C>T (p.Phe197=)
NM_000071.3(CBS):c.596C>G (p.Ser199Cys) rs1982554358
NM_000071.3(CBS):c.597C>T (p.Ser199=) rs764210379
NM_000071.3(CBS):c.59G>A (p.Gly20Glu) rs1983457688
NM_000071.3(CBS):c.606A>T (p.Ser202=) rs2146384454
NM_000071.3(CBS):c.606dup (p.His203fs)
NM_000071.3(CBS):c.60G>A (p.Gly20=)
NM_000071.3(CBS):c.60G>T (p.Gly20=) rs1172449590
NM_000071.3(CBS):c.612G>A (p.Val204=) rs539670390
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.615G>A (p.Gly205=)
NM_000071.3(CBS):c.618G>T (p.Val206=)
NM_000071.3(CBS):c.621C>T (p.Ala207=)
NM_000071.3(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.3(CBS):c.624G>A (p.Trp208Ter) rs774174074
NM_000071.3(CBS):c.624G>T (p.Trp208Cys) rs774174074
NM_000071.3(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.3(CBS):c.626G>A (p.Arg209Gln) rs781759129
NM_000071.3(CBS):c.626G>C (p.Arg209Pro)
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.638A>G (p.Glu213Gly)
NM_000071.3(CBS):c.63A>G (p.Pro21=)
NM_000071.3(CBS):c.642C>A (p.Ile214=) rs752866551
NM_000071.3(CBS):c.642C>T (p.Ile214=) rs752866551
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.666+11T>C
NM_000071.3(CBS):c.666+15G>A rs2146383353
NM_000071.3(CBS):c.666+19G>A
NM_000071.3(CBS):c.666+7C>T
NM_000071.3(CBS):c.666+9C>A
NM_000071.3(CBS):c.666+9C>T rs760597046
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.667-15T>C
NM_000071.3(CBS):c.667-18T>C
NM_000071.3(CBS):c.667-1G>C rs1982513394
NM_000071.3(CBS):c.667-3C>A
NM_000071.3(CBS):c.667-4G>A rs750338571
NM_000071.3(CBS):c.667-4G>T rs750338571
NM_000071.3(CBS):c.667-7T>C rs2146382253
NM_000071.3(CBS):c.667-9T>G rs1231532652
NM_000071.3(CBS):c.669C>T (p.Tyr223=) rs1366764579
NM_000071.3(CBS):c.66C>T (p.His22=)
NM_000071.3(CBS):c.671G>A (p.Arg224His)
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.676G>T (p.Ala226Ser)
NM_000071.3(CBS):c.677C>A (p.Ala226Asp)
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.684C>T (p.Asn228=)
NM_000071.3(CBS):c.685C>A (p.Pro229Thr) rs375730175
NM_000071.3(CBS):c.688C>T (p.Leu230=)
NM_000071.3(CBS):c.689T>A (p.Leu230Gln)
NM_000071.3(CBS):c.690G>A (p.Leu230=) rs2146381761
NM_000071.3(CBS):c.694C>G (p.His232Asp)
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
NM_000071.3(CBS):c.6T>A (p.Pro2=)
NM_000071.3(CBS):c.702C>T (p.Asp234=) rs2146381576
NM_000071.3(CBS):c.702del (p.Asp234fs) rs2146381604
NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs) rs1057517435
NM_000071.3(CBS):c.709G>A (p.Ala237Thr)
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.721C>T (p.Leu241=)
NM_000071.3(CBS):c.723G>C (p.Leu241=)
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
NM_000071.3(CBS):c.729G>A (p.Gln243=)
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr) rs1982489718
NM_000071.3(CBS):c.732T>C (p.Cys244=)
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.736+11C>G
NM_000071.3(CBS):c.736+11C>T
NM_000071.3(CBS):c.736+17A>G rs1982483674
NM_000071.3(CBS):c.736+17A>T
NM_000071.3(CBS):c.736+2T>G rs863223430
NM_000071.3(CBS):c.736+7C>A
NM_000071.3(CBS):c.736+8C>A rs752611922
NM_000071.3(CBS):c.736+8C>T
NM_000071.3(CBS):c.736+9C>G
NM_000071.3(CBS):c.736+9C>T
NM_000071.3(CBS):c.736_736+8del
NM_000071.3(CBS):c.737-10C>A
NM_000071.3(CBS):c.737-10C>G
NM_000071.3(CBS):c.737-12T>C
NM_000071.3(CBS):c.737-13A>G
NM_000071.3(CBS):c.737-17T>C
NM_000071.3(CBS):c.737-19A>T
NM_000071.3(CBS):c.737-7C>T
NM_000071.3(CBS):c.738del rs766453711
NM_000071.3(CBS):c.740_769del (p.Lys247_Gly256del)
NM_000071.3(CBS):c.741G>A (p.Lys247=)
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.748A>G (p.Met250Val) rs777884368
NM_000071.3(CBS):c.748A>T (p.Met250Leu)
NM_000071.3(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.3(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.3(CBS):c.750G>C (p.Met250Ile)
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.754del (p.Val252fs)
NM_000071.3(CBS):c.75G>A (p.Lys25=)
NM_000071.3(CBS):c.75G>T (p.Lys25Asn) rs1484147890
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
NM_000071.3(CBS):c.762A>T (p.Ser254=) rs2146375612
NM_000071.3(CBS):c.763G>C (p.Val255Leu) rs1982371715
NM_000071.3(CBS):c.766G>A (p.Gly256Ser) rs1000697114
NM_000071.3(CBS):c.767G>T (p.Gly256Val)
NM_000071.3(CBS):c.771G>T (p.Thr257=)
NM_000071.3(CBS):c.776G>A (p.Gly259Asp)
NM_000071.3(CBS):c.783C>A (p.Ile261=)
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
NM_000071.3(CBS):c.785C>G (p.Thr262Arg)
NM_000071.3(CBS):c.786G>C (p.Thr262=)
NM_000071.3(CBS):c.78G>A (p.Gly26=) rs370064290
NM_000071.3(CBS):c.78dup (p.Ser27fs)
NM_000071.3(CBS):c.795C>T (p.Ala265=) rs774812804
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)
NM_000071.3(CBS):c.802C>T (p.Leu268=) rs2146375082
NM_000071.3(CBS):c.808G>A (p.Glu270Lys)
NM_000071.3(CBS):c.808_810del (p.Glu270del) rs760710691
NM_000071.3(CBS):c.808_828+5del
NM_000071.3(CBS):c.815_816del (p.Cys272fs)
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.3(CBS):c.816T>C (p.Cys272=)
NM_000071.3(CBS):c.817C>T (p.Pro273Ser) rs2146374921
NM_000071.3(CBS):c.822A>T (p.Gly274=) rs2146374874
NM_000071.3(CBS):c.825C>A (p.Cys275Ter)
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.828+15C>T
NM_000071.3(CBS):c.828+16G>C
NM_000071.3(CBS):c.828+7G>A
NM_000071.3(CBS):c.829-10C>A
NM_000071.3(CBS):c.829-12C>A
NM_000071.3(CBS):c.829-13G>T
NM_000071.3(CBS):c.829-14C>A
NM_000071.3(CBS):c.829-1G>C rs1555874263
NM_000071.3(CBS):c.829-1G>T
NM_000071.3(CBS):c.829-1_829insGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGGTCACTGGGGTGGATCATCCAGGT
NM_000071.3(CBS):c.829-249_878del rs2146366969
NM_000071.3(CBS):c.829-2dup
NM_000071.3(CBS):c.829-4G>A rs1601352751
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.829_830insACACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGA
NM_000071.3(CBS):c.833T>G (p.Ile278Ser)
NM_000071.3(CBS):c.837_841dup (p.Asp281fs)
NM_000071.3(CBS):c.838G>A (p.Val280Met) rs1982225866
NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC (p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer) rs2146367577
NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGAGTGGATC (p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer) rs2146367555
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer) rs1555874223
NM_000071.3(CBS):c.846C>T (p.Pro282=)
NM_000071.3(CBS):c.84G>A (p.Leu28=) rs1601384336
NM_000071.3(CBS):c.852G>A (p.Gly284=) rs1269665368
NM_000071.3(CBS):c.855C>T (p.Ser285=) rs1201628362
NM_000071.3(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.3(CBS):c.861C>T (p.Leu287=) rs754312192
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.3(CBS):c.862G>C (p.Ala288Pro) rs141502207
NM_000071.3(CBS):c.862G>T (p.Ala288Ser) rs141502207
NM_000071.3(CBS):c.864A>C (p.Ala288=) rs2146367182
NM_000071.3(CBS):c.866A>G (p.Glu289Gly) rs1601352415
NM_000071.3(CBS):c.869C>T (p.Pro290Leu) rs760912339
NM_000071.3(CBS):c.870G>C (p.Pro290=) rs773580068
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu) rs1064795178
NM_000071.3(CBS):c.87G>A (p.Glu29=)
NM_000071.3(CBS):c.883C>T (p.Gln295Ter)
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.888G>C (p.Thr296=)
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.892dup (p.Gln298fs)
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.906G>A (p.Glu302=) rs2146366576
NM_000071.3(CBS):c.90G>A (p.Lys30=) rs2146428287
NM_000071.3(CBS):c.913G>A (p.Gly305Arg)
NM_000071.3(CBS):c.915G>C (p.Gly305=)
NM_000071.3(CBS):c.915G>T (p.Gly305=)
NM_000071.3(CBS):c.920G>A (p.Gly307Asp)
NM_000071.3(CBS):c.920G>C (p.Gly307Ala)
NM_000071.3(CBS):c.920G>T (p.Gly307Val)
NM_000071.3(CBS):c.933C>T (p.Ile311=) rs2146366372
NM_000071.3(CBS):c.936C>T (p.Pro312=) rs1601351871
NM_000071.3(CBS):c.938C>T (p.Thr313Met)
NM_000071.3(CBS):c.93G>T (p.Gly31=) rs754409674
NM_000071.3(CBS):c.941T>C (p.Val314Ala) rs1438933819
NM_000071.3(CBS):c.945G>A (p.Leu315=) rs2146366216
NM_000071.3(CBS):c.946G>A (p.Asp316Asn) rs2146366197
NM_000071.3(CBS):c.948C>T (p.Asp316=)
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
NM_000071.3(CBS):c.954+10G>A
NM_000071.3(CBS):c.954+15G>T
NM_000071.3(CBS):c.954+17G>A
NM_000071.3(CBS):c.954+18C>G rs1057521202
NM_000071.3(CBS):c.954+1G>A rs1057517373
NM_000071.3(CBS):c.954+20C>A
NM_000071.3(CBS):c.954+2T>G rs1555874121
NM_000071.3(CBS):c.954+5G>T rs1568928886
NM_000071.3(CBS):c.954+8G>T
NM_000071.3(CBS):c.954+9A>G
NM_000071.3(CBS):c.954G>A (p.Thr318=) rs776122644
NM_000071.3(CBS):c.955-11G>T
NM_000071.3(CBS):c.955-2A>C
NM_000071.3(CBS):c.955-2A>G
NM_000071.3(CBS):c.955-2A>T
NM_000071.3(CBS):c.955-3C>T
NM_000071.3(CBS):c.955-5C>A rs746366131
NM_000071.3(CBS):c.955-5C>T
NM_000071.3(CBS):c.955-8C>T rs1290305207
NM_000071.3(CBS):c.957G>C (p.Val319=)
NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.3(CBS):c.972C>T (p.Phe324=)
NM_000071.3(CBS):c.978C>T (p.Ser326=) rs1343681863
NM_000071.3(CBS):c.978del (p.Ser326fs)
NM_000071.3(CBS):c.987G>C (p.Glu329Asp) rs765151853
NM_000071.3(CBS):c.98del (p.Pro33fs) rs2146428203
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

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