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.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000071.3(CBS):c.1125C>T (p.Pro375=)
|
rs146180894
|
0.00067
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
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.600G>A (p.Pro200=)
|
rs181472622
|
0.00029
|
NM_000071.3(CBS):c.33G>A (p.Gly11=)
|
rs567323664
|
0.00025
|
NM_000071.3(CBS):c.1273G>A (p.Val425Met)
|
rs138211175
|
0.00022
|
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.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.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.1338G>A (p.Ala446=)
|
rs373962057
|
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.612G>C (p.Val204=)
|
rs539670390
|
0.00006
|
NM_000071.3(CBS):c.69G>A (p.Ser23=)
|
rs769704501
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000071.3(CBS):c.774C>T (p.Gly258=)
|
rs764925747
|
0.00005
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
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.1083G>A (p.Ala361=)
|
rs781323559
|
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.1326C>G (p.Gly442=)
|
rs750627927
|
0.00003
|
NM_000071.3(CBS):c.1356G>A (p.Ala452=)
|
rs776322450
|
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.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.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.903C>T (p.Tyr301=)
|
rs746575551
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000071.3(CBS):c.1038C>T (p.Cys346=)
|
rs781584799
|
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.1593C>T (p.Phe531=)
|
rs768230991
|
0.00002
|
NM_000071.3(CBS):c.1605C>T (p.Thr535=)
|
rs769221457
|
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.441C>T (p.Ser147=)
|
rs367669819
|
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.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.1329C>T (p.Phe443=)
|
rs747186128
|
0.00001
|
NM_000071.3(CBS):c.1332C>T (p.Asp444=)
|
rs1060503998
|
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.34C>T (p.Pro12Ser)
|
rs558259739
|
0.00001
|
NM_000071.3(CBS):c.675C>T (p.Asn225=)
|
rs145303290
|
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.840G>A (p.Val280=)
|
rs1060500682
|
0.00001
|
NM_000071.2(CBS):c.844_845ins68 (p.?)
|
|
|
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.1149C>T (p.Thr383=)
|
rs2146344423
|
|
NM_000071.3(CBS):c.1165A>C (p.Arg389=)
|
rs1601339535
|
|
NM_000071.3(CBS):c.1174C>T (p.Leu392=)
|
|
|
NM_000071.3(CBS):c.1272C>G (p.Thr424=)
|
rs141717913
|
|
NM_000071.3(CBS):c.1278C>T (p.Leu426=)
|
|
|
NM_000071.3(CBS):c.1368G>A (p.Leu456=)
|
rs199941488
|
|
NM_000071.3(CBS):c.1377G>C (p.Val459=)
|
|
|
NM_000071.3(CBS):c.1416G>A (p.Lys472=)
|
|
|
NM_000071.3(CBS):c.1500G>A (p.Ser500=)
|
rs1057522901
|
|
NM_000071.3(CBS):c.1584G>A (p.Gln528=)
|
rs2146315777
|
|
NM_000071.3(CBS):c.1599G>A (p.Val533=)
|
|
|
NM_000071.3(CBS):c.177T>G (p.Pro59=)
|
|
|
NM_000071.3(CBS):c.183C>A (p.Ser61=)
|
rs753906914
|
|
NM_000071.3(CBS):c.207C>A (p.Ala69=)
|
|
|
NM_000071.3(CBS):c.228C>T (p.Ile76=)
|
rs1555876151
|
|
NM_000071.3(CBS):c.234A>G (p.Pro78=)
|
|
|
NM_000071.3(CBS):c.252C>T (p.Ile84=)
|
rs1180701001
|
|
NM_000071.3(CBS):c.282G>A (p.Lys94=)
|
|
|
NM_000071.3(CBS):c.321C>T (p.Ala107=)
|
rs1555875422
|
|
NM_000071.3(CBS):c.372G>A (p.Leu124=)
|
|
|
NM_000071.3(CBS):c.423G>C (p.Thr141=)
|
rs773579814
|
|
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)
|
rs199817801
|
|
NM_000071.3(CBS):c.555G>T (p.Gly185=)
|
rs1291496530
|
|
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
|
|
|
NM_000071.3(CBS):c.625C>A (p.Arg209=)
|
rs137939628
|
|
NM_000071.3(CBS):c.667-4G>A
|
rs750338571
|
|
NM_000071.3(CBS):c.714T>C (p.Asp238=)
|
|
|
NM_000071.3(CBS):c.786G>C (p.Thr262=)
|
|
|
NM_000071.3(CBS):c.795C>T (p.Ala265=)
|
rs774812804
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer)
|
rs1555874223
|
|
NM_000071.3(CBS):c.84G>A (p.Leu28=)
|
rs1601384336
|
|
NM_000071.3(CBS):c.864A>C (p.Ala288=)
|
rs2146367182
|
|
NM_000071.3(CBS):c.887C>T (p.Thr296Met)
|
rs562530775
|
|
NM_000071.3(CBS):c.898A>G (p.Thr300Ala)
|
|
|
NM_000071.3(CBS):c.93G>T (p.Gly31=)
|
rs754409674
|
|
NM_000071.3(CBS):c.943C>T (p.Leu315=)
|
|
|