NC_000021.9:g.(?_43053340)_(43056907_?)del


NC_000021.9:g.(?_43053860)_(43072213_?)dup


NC_000021.9:g.(?_43058125)_(43065715_?)del


NM_000071.2(CBS):c.*540G>A

rs111386779 
NM_000071.2(CBS):c.10406C>G

rs767372401 
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.1065G>A (p.Ala355=)

rs748552493 
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.1080_1081delCGinsTA (p.Ala361Thr)

rs1555873407 
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys)

rs117687681 
NM_000071.2(CBS):c.1106G>A (p.Arg369His)


NM_000071.2(CBS):c.1125C>T (p.Pro375=)

rs146180894 
NM_000071.2(CBS):c.1145+7C>T

rs201158177 
NM_000071.2(CBS):c.11467C>T

rs376749931 
NM_000071.2(CBS):c.1148C>T (p.Thr383Ile)


NM_000071.2(CBS):c.1161C>T (p.Ser387=)

rs149280976 
NM_000071.2(CBS):c.1205T>C (p.Leu402Pro)

rs371214833 
NM_000071.2(CBS):c.1209G>A (p.Thr403=)

rs199967147 
NM_000071.2(CBS):c.12242A>C

rs375846341 
NM_000071.2(CBS):c.12245C>T

rs370071493 
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.1272C>T (p.Thr424=)

rs141717913 
NM_000071.2(CBS):c.1273G>A (p.Val425Met)

rs138211175 
NM_000071.2(CBS):c.1287C>T (p.Ile429=)

rs770442169 
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln)

rs756467921 
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.134G>A (p.Arg45Gln)

rs759502207 
NM_000071.2(CBS):c.1379C>T (p.Thr460Met)


NM_000071.2(CBS):c.138C>T (p.Pro46=)

rs532584017 
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.1451A>G (p.Tyr484Cys)

rs1555871913 
NM_000071.2(CBS):c.1451A>T (p.Tyr484Phe)

rs1555871913 
NM_000071.2(CBS):c.146C>T (p.Pro49Leu)

rs148865119 
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.1525G>A (p.Ala509Thr)

rs1060500680 
NM_000071.2(CBS):c.1551G>A (p.Gln517=)


NM_000071.2(CBS):c.15531G>C

rs1555869979 
NM_000071.2(CBS):c.15532A>C

rs760609383 
NM_000071.2(CBS):c.155G>A (p.Cys52Tyr)

rs779777933 
NM_000071.2(CBS):c.1575T>C (p.Ser525=)

rs150037641 
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)


NM_000071.2(CBS):c.1643G>A (p.Arg548Gln)

rs150828989 
NM_000071.2(CBS):c.1656A>C (p.Ter552Cys)

rs1365095601 
NM_000071.2(CBS):c.18C>T (p.Pro6=)

rs777370660 
NM_000071.2(CBS):c.19dupC (p.Gln7Profs)

rs748695461 
NM_000071.2(CBS):c.209+5G>C

rs1555876750 
NM_000071.2(CBS):c.209C>T (p.Pro70Leu)

rs2229413 
NM_000071.2(CBS):c.215A>T (p.Lys72Ile)

rs192232907 
NM_000071.2(CBS):c.284T>C (p.Ile95Thr)

rs1347662650 
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.302T>C (p.Leu101Pro)

rs786204757 
NM_000071.2(CBS):c.304A>C (p.Lys102Gln)

rs34040148 
NM_000071.2(CBS):c.325T>C (p.Cys109Arg)

rs778220779 
NM_000071.2(CBS):c.34C>T (p.Pro12Ser)

rs558259739 
NM_000071.2(CBS):c.361C>T (p.Arg121Cys)

rs775992753 
NM_000071.2(CBS):c.369C>A (p.Ser123Arg)

rs1555875387 
NM_000071.2(CBS):c.374G>A (p.Arg125Gln)

rs781444670 
NM_000071.2(CBS):c.384G>A (p.Glu128=)

rs374593242 
NM_000071.2(CBS):c.393G>C (p.Glu131Asp)

rs1555875351 
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.400G>A (p.Gly134Arg)

rs147474549 
NM_000071.2(CBS):c.400G>C (p.Gly134Arg)

rs147474549 
NM_000071.2(CBS):c.404C>T (p.Thr135Met)

rs144832032 
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.435G>A (p.Pro145=)

rs148782895 
NM_000071.2(CBS):c.451G>T (p.Gly151Trp)


NM_000071.2(CBS):c.452154_623dup


NM_000071.2(CBS):c.457G>A (p.Gly153Arg)


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)


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.52C>T (p.Arg18Cys)

rs201827340 
NM_000071.2(CBS):c.5322A>G


NM_000071.2(CBS):c.536_553del18 (p.Asp179_Leu184del)

rs794727835 
NM_000071.2(CBS):c.548C>T (p.Ala183Val)

rs374464810 
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.600G>A (p.Pro200=)

rs181472622 
NM_000071.2(CBS):c.609C>T (p.His203=)

rs142313595 
NM_000071.2(CBS):c.612G>C (p.Val204=)

rs539670390 
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>T (p.Asn212=)

rs2298758 
NM_000071.2(CBS):c.65A>G (p.His22Arg)

rs763151207 
NM_000071.2(CBS):c.66710_6677delTTCT

rs376011228 
NM_000071.2(CBS):c.66714_6677del8

rs764160782 
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.708C>T (p.Thr236=)

rs748495689 
NM_000071.2(CBS):c.710C>T (p.Ala237Val)


NM_000071.2(CBS):c.72G>A (p.Ala24=)

rs145466242 
NM_000071.2(CBS):c.7371G>C

rs757428597 
NM_000071.2(CBS):c.7379G>A

rs781068454 
NM_000071.2(CBS):c.738delG (p.Lys247Serfs)

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.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.797G>A (p.Arg266Lys)

rs121964969 
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA (p.Ile278Thrfs)

rs876657421 
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA (p.Ile278Thrfs)

rs876657421 
NM_000071.2(CBS):c.833T>C (p.Ile278Thr)

rs5742905 
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT (p.Gly279Glnfs)

rs864622693 
NM_000071.2(CBS):c.840G>A (p.Val280=)

rs1060500682 
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.887C>T (p.Thr296Met)

rs562530775 
NM_000071.2(CBS):c.894G>A (p.Gln298=)

rs370514077 
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.939G>A (p.Thr313=)

rs2228298 
NM_000071.2(CBS):c.953C>T (p.Thr318Met)

rs769541394 
NM_000071.2(CBS):c.954+5G>T


NM_000071.2(CBS):c.954+8G>A

rs76292057 
NM_000071.2(CBS):c.992C>A (p.Ala331Glu)

rs777919630 