ClinVar Miner

List of variants in gene CBS reported as likely benign for homocystinuria

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 530
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.*383C>T rs73372352 0.01854
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000071.3(CBS):c.*34G>A rs374464201 0.00214
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.52C>T (p.Arg18Cys) rs201827340 0.00086
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.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.1380G>A (p.Thr460=) rs765134080 0.00038
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000071.3(CBS):c.33G>A (p.Gly11=) rs567323664 0.00025
NM_000071.3(CBS):c.829-11G>T rs371619788 0.00025
NM_000071.3(CBS):c.339C>T (p.Asn113=) rs140879135 0.00019
NM_000071.3(CBS):c.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.133C>T (p.Arg45Trp) rs201372812 0.00013
NM_000071.3(CBS):c.1341C>T (p.Pro447=) rs371493662 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.828+16G>A rs527276612 0.00012
NM_000071.3(CBS):c.1146-12C>T rs199550738 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.894G>A (p.Gln298=) rs370514077 0.00010
NM_000071.3(CBS):c.532-17C>T rs534994500 0.00009
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.1161C>T (p.Ser387=) rs149280976 0.00006
NM_000071.3(CBS):c.1266G>A (p.Pro422=) rs150146702 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.1626C>T (p.Phe542=) rs758818777 0.00006
NM_000071.3(CBS):c.452-12G>T rs780064320 0.00006
NM_000071.3(CBS):c.612G>C (p.Val204=) rs539670390 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.1494G>A (p.Arg498=) rs778800147 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.1145+10G>A rs150863939 0.00004
NM_000071.3(CBS):c.1281G>A (p.Pro427=) rs563330591 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.342G>A (p.Ala114=) rs145338910 0.00004
NM_000071.3(CBS):c.501C>T (p.Ile167=) rs754246295 0.00004
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.1083G>A (p.Ala361=) rs781323559 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.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.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.1485G>A (p.Thr495=) rs369903148 0.00003
NM_000071.3(CBS):c.1563C>T (p.Thr521=) rs773052594 0.00003
NM_000071.3(CBS):c.210-16G>T rs183972299 0.00003
NM_000071.3(CBS):c.396C>T (p.Arg132=) rs754758476 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.609C>T (p.His203=) rs142313595 0.00003
NM_000071.3(CBS):c.615G>C (p.Gly205=) rs773114442 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.737-9G>A rs781068454 0.00003
NM_000071.3(CBS):c.771G>A (p.Thr257=) rs375004389 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.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.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.351C>T (p.Ser117=) rs769149281 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.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.720C>A (p.Ile240=) rs769024492 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.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.1110C>T (p.Cys370=) rs752404089 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.1329C>T (p.Phe443=) rs747186128 0.00001
NM_000071.3(CBS):c.1332C>T (p.Asp444=) rs1060503998 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.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.168G>A (p.Leu56=) rs752055364 0.00001
NM_000071.3(CBS):c.180C>T (p.Ala60=) rs755282601 0.00001
NM_000071.3(CBS):c.390T>C (p.Ala130=) rs758553912 0.00001
NM_000071.3(CBS):c.399C>T (p.Asp133=) rs200362321 0.00001
NM_000071.3(CBS):c.447C>T (p.Asn149=) rs1457546374 0.00001
NM_000071.3(CBS):c.532-8T>C rs775695225 0.00001
NM_000071.3(CBS):c.564T>C (p.Ile188=) rs771803581 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.687C>T (p.Pro229=) rs769298649 0.00001
NM_000071.3(CBS):c.72G>A (p.Ala24=) rs145466242 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.840G>A (p.Val280=) rs1060500682 0.00001
NM_000071.3(CBS):c.870G>A (p.Pro290=) rs773580068 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_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.3(CBS):c.1008C>A (p.Arg336=)
NM_000071.3(CBS):c.1008C>T (p.Arg336=)
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.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+20G>T
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.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.1041T>C (p.Gly347=) rs573954005
NM_000071.3(CBS):c.1065G>C (p.Ala355=) rs748552493
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.1089G>A (p.Glu363=) rs1601343953
NM_000071.3(CBS):c.1090C>T (p.Leu364=)
NM_000071.3(CBS):c.1098G>A (p.Glu366=) rs1601343873
NM_000071.3(CBS):c.1113G>A (p.Val371=)
NM_000071.3(CBS):c.1116C>G (p.Val372=)
NM_000071.3(CBS):c.1125C>G (p.Pro375=) rs146180894
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+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.1146-4G>C
NM_000071.3(CBS):c.1146-4G>T
NM_000071.3(CBS):c.1146-6C>T rs1981696579
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.1164C>T (p.Asp388=) rs2146344263
NM_000071.3(CBS):c.1165A>C (p.Arg389=) rs1601339535
NM_000071.3(CBS):c.1174C>T (p.Leu392=)
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.1191G>T (p.Leu397=)
NM_000071.3(CBS):c.1200G>A (p.Glu400=)
NM_000071.3(CBS):c.1221C>G (p.Pro407=)
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+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.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.1233C>T (p.His411=) rs2146342075
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.1257G>C (p.Leu419=) rs138432416
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.126G>A (p.Leu42=)
NM_000071.3(CBS):c.1272C>G (p.Thr424=) rs141717913
NM_000071.3(CBS):c.1290C>T (p.Thr430=) rs746564702
NM_000071.3(CBS):c.1296G>T (p.Gly432=)
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.1311C>T (p.Ile437=)
NM_000071.3(CBS):c.1320G>A (p.Glu440=) rs2146340988
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.1344G>A (p.Val448=)
NM_000071.3(CBS):c.1356G>C (p.Ala452=)
NM_000071.3(CBS):c.1356G>T (p.Ala452=) rs776322450
NM_000071.3(CBS):c.1358+15C>A rs186497436
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1358+7C>G rs1341743668
NM_000071.3(CBS):c.1359-13C>T
NM_000071.3(CBS):c.1359-8T>C rs566872403
NM_000071.3(CBS):c.1359-9G>C
NM_000071.3(CBS):c.135G>T (p.Arg45=) rs2146427946
NM_000071.3(CBS):c.1368G>A (p.Leu456=) rs199941488
NM_000071.3(CBS):c.1377G>C (p.Val459=)
NM_000071.3(CBS):c.1380G>T (p.Thr460=) rs765134080
NM_000071.3(CBS):c.138C>G (p.Pro46=)
NM_000071.3(CBS):c.138C>T (p.Pro46=) rs532584017
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.1413G>A (p.Gly471=) rs777859460
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.1468-13G>A
NM_000071.3(CBS):c.1468-14C>T
NM_000071.3(CBS):c.1468-17C>T
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.1500G>A (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1500G>C (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1507C>T (p.Leu503=)
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.153G>A (p.Arg51=) rs748795053
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+20G>C
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.1553-20C>A
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.1566G>A (p.Gly522=)
NM_000071.3(CBS):c.1572C>G (p.Ser524=)
NM_000071.3(CBS):c.1579C>A (p.Arg527=) rs1455031864
NM_000071.3(CBS):c.1581G>T (p.Arg527=) rs2146315789
NM_000071.3(CBS):c.1584G>A (p.Gln528=) rs2146315777
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.1638G>A (p.Gln546=) rs2146315419
NM_000071.3(CBS):c.1641G>A (p.Glu547=) rs2146315391
NM_000071.3(CBS):c.1647C>T (p.Asp549=) rs2146315284
NM_000071.3(CBS):c.1650G>A (p.Gln550=)
NM_000071.3(CBS):c.1653G>A (p.Lys551=) rs2146315248
NM_000071.3(CBS):c.165G>A (p.Gln55=) rs755690693
NM_000071.3(CBS):c.177T>G (p.Pro59=)
NM_000071.3(CBS):c.183C>A (p.Ser61=) rs753906914
NM_000071.3(CBS):c.198C>T (p.His66=)
NM_000071.3(CBS):c.201C>T (p.His67=)
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+20A>T
NM_000071.3(CBS):c.209+7C>T rs374583085
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.216A>G (p.Lys72=) rs1983118913
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.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.279C>T (p.Asn93=) rs1983108444
NM_000071.3(CBS):c.282G>A (p.Lys94=)
NM_000071.3(CBS):c.30G>A (p.Val10=)
NM_000071.3(CBS):c.312G>A (p.Glu104=) rs2146413583
NM_000071.3(CBS):c.316+18G>A
NM_000071.3(CBS):c.316+19G>A
NM_000071.3(CBS):c.316+586A>G
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.317-3del
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.324G>A (p.Lys108=)
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.366C>T (p.Ile122=)
NM_000071.3(CBS):c.369C>T (p.Ser123=) rs1555875387
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.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.423G>A (p.Thr141=)
NM_000071.3(CBS):c.423G>C (p.Thr141=) rs773579814
NM_000071.3(CBS):c.435G>T (p.Pro145=)
NM_000071.3(CBS):c.438A>C (p.Thr146=)
NM_000071.3(CBS):c.441C>A (p.Ser147=) rs367669819
NM_000071.3(CBS):c.444G>A (p.Gly148=) rs2146393601
NM_000071.3(CBS):c.451+11G>A
NM_000071.3(CBS):c.451+16A>T
NM_000071.3(CBS):c.451+20G>A rs1057520922
NM_000071.3(CBS):c.451+20G>C
NM_000071.3(CBS):c.451+7G>A
NM_000071.3(CBS):c.451+8C>T rs1268489943
NM_000071.3(CBS):c.452-14C>G
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.452-4T>C rs2146388397
NM_000071.3(CBS):c.465C>A (p.Ala155=)
NM_000071.3(CBS):c.465C>T (p.Ala155=) rs962625978
NM_000071.3(CBS):c.474G>C (p.Ala158=) rs189362155
NM_000071.3(CBS):c.492C>G (p.Arg164=)
NM_000071.3(CBS):c.495C>T (p.Cys165=)
NM_000071.3(CBS):c.504G>A (p.Val168=)
NM_000071.3(CBS):c.522C>T (p.Ser174=)
NM_000071.3(CBS):c.525C>G (p.Ser175=)
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+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.532-7C>G
NM_000071.3(CBS):c.534G>T (p.Val178=) rs1982572494
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.555G>T (p.Gly185=) rs1291496530
NM_000071.3(CBS):c.576C>T (p.Pro192=)
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.591C>T (p.Phe197=)
NM_000071.3(CBS):c.597C>T (p.Ser199=) rs764210379
NM_000071.3(CBS):c.606A>T (p.Ser202=) rs2146384454
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.625C>A (p.Arg209=) rs137939628
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.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.667-15T>C
NM_000071.3(CBS):c.667-18T>C
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.684C>T (p.Asn228=)
NM_000071.3(CBS):c.688C>T (p.Leu230=)
NM_000071.3(CBS):c.690G>A (p.Leu230=) rs2146381761
NM_000071.3(CBS):c.6T>A (p.Pro2=)
NM_000071.3(CBS):c.702C>T (p.Asp234=) rs2146381576
NM_000071.3(CBS):c.721C>T (p.Leu241=)
NM_000071.3(CBS):c.723G>C (p.Leu241=)
NM_000071.3(CBS):c.729G>A (p.Gln243=)
NM_000071.3(CBS):c.732T>C (p.Cys244=)
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+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.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.741G>A (p.Lys247=)
NM_000071.3(CBS):c.747C>T (p.Asp249=) rs1601356424
NM_000071.3(CBS):c.753G>T (p.Leu251=) rs2146375662
NM_000071.3(CBS):c.75G>A (p.Lys25=)
NM_000071.3(CBS):c.762A>T (p.Ser254=) rs2146375612
NM_000071.3(CBS):c.771G>T (p.Thr257=)
NM_000071.3(CBS):c.783C>A (p.Ile261=)
NM_000071.3(CBS):c.786G>C (p.Thr262=)
NM_000071.3(CBS):c.78G>A (p.Gly26=) rs370064290
NM_000071.3(CBS):c.795C>T (p.Ala265=) rs774812804
NM_000071.3(CBS):c.802C>T (p.Leu268=) rs2146375082
NM_000071.3(CBS):c.816T>C (p.Cys272=)
NM_000071.3(CBS):c.822A>T (p.Gly274=) rs2146374874
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.829-4G>A rs1601352751
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.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.861C>T (p.Leu287=) rs754312192
NM_000071.3(CBS):c.864A>C (p.Ala288=) rs2146367182
NM_000071.3(CBS):c.870G>C (p.Pro290=) rs773580068
NM_000071.3(CBS):c.87G>A (p.Glu29=)
NM_000071.3(CBS):c.888G>C (p.Thr296=)
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.915G>C (p.Gly305=)
NM_000071.3(CBS):c.915G>T (p.Gly305=)
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.93G>T (p.Gly31=) rs754409674
NM_000071.3(CBS):c.945G>A (p.Leu315=) rs2146366216
NM_000071.3(CBS):c.948C>T (p.Asp316=)
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+20C>A
NM_000071.3(CBS):c.954+8G>T
NM_000071.3(CBS):c.954+9A>G
NM_000071.3(CBS):c.955-11G>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.972C>T (p.Phe324=)
NM_000071.3(CBS):c.978C>T (p.Ser326=) rs1343681863
NM_000071.3(CBS):c.990G>A (p.Glu330=) rs1373353287

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