NC_000021.9:g.43071882del


NM_000071.2(CBS):c.*10C>A

rs9978104 
NM_000071.2(CBS):c.*18G>A

rs200259659 
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.*34G>A

rs374464201 
NM_000071.2(CBS):c.6C>A


NM_000071.2(CBS):c.8258G>A


NM_000071.2(CBS):c.8292G>C


NM_000071.2(CBS):c.85+10G>C

rs886057102 
NM_000071.2(CBS):c.9+14G>A

rs927172505 
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.1009A>C (p.Met337Leu)

rs372822486 
NM_000071.2(CBS):c.1009A>G (p.Met337Val)

rs372822486 
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.1039G>A (p.Gly347Ser)

rs771298943 
NM_000071.2(CBS):c.104016G>A

rs755940179 
NM_000071.2(CBS):c.1040275G>A


NM_000071.2(CBS):c.1040322T>C


NM_000071.2(CBS):c.1040323G>A


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.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.1087del (p.Glu363fs)

rs1064794540 
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys)

rs117687681 
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>T (p.Val372Phe)

rs775354680 
NM_000071.2(CBS):c.1125C>T (p.Pro375=)

rs146180894 
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.1146110C>A


NM_000071.2(CBS):c.114620G>A

rs1057522600 
NM_000071.2(CBS):c.1146288T>C


NM_000071.2(CBS):c.11465C>T

rs941685349 
NM_000071.2(CBS):c.1161C>T (p.Ser387=)

rs149280976 
NM_000071.2(CBS):c.1213_1215AAG[1] (p.Lys406del)

rs780555741 
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+5G>A

rs372609349 
NM_000071.2(CBS):c.1223G>A (p.Trp408Ter)

rs863223433 
NM_000071.2(CBS):c.122414C>T

rs756737169 
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.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.1280C>T (p.Pro427Leu)

rs863223434 
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn)

rs28934891 
NM_000071.2(CBS):c.133C>T (p.Arg45Trp)

rs201372812 
NM_000071.2(CBS):c.1342G>A (p.Val448Met)

rs865989946 
NM_000071.2(CBS):c.1353G>C (p.Glu451Asp)

rs367962613 
NM_000071.2(CBS):c.1358+15C>A

rs186497436 
NM_000071.2(CBS):c.1358+15C>G

rs186497436 
NM_000071.2(CBS):c.1358+264A>G


NM_000071.2(CBS):c.135914C>T

rs115185587 
NM_000071.2(CBS):c.135918C>T

rs770172764 
NM_000071.2(CBS):c.13599G>A

rs202137317 
NM_000071.2(CBS):c.1380G>A (p.Thr460=)

rs765134080 
NM_000071.2(CBS):c.1398G>A (p.Ser466=)


NM_000071.2(CBS):c.1411G>A (p.Gly471Arg)

rs201098477 
NM_000071.2(CBS):c.1425G>A (p.Pro475=)

rs147885808 
NM_000071.2(CBS):c.144T>G (p.Ala48=)

rs770839773 
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+98_1467+128del31


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.1494G>A (p.Arg498=)

rs778800147 
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.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.1552+154T>C


NM_000071.2(CBS):c.1552+16C>T

rs1555871071 
NM_000071.2(CBS):c.1552+21_1552+22delTG

rs1555871062 
NM_000071.2(CBS):c.155313G>C

rs766380369 
NM_000071.2(CBS):c.155316C>T

rs1057522673 
NM_000071.2(CBS):c.155348C>T


NM_000071.2(CBS):c.1563C>T (p.Thr521=)

rs773052594 
NM_000071.2(CBS):c.1575T>C (p.Ser525=)

rs150037641 
NM_000071.2(CBS):c.1605C>T (p.Thr535=)

rs769221457 
NM_000071.2(CBS):c.1626C>T (p.Phe542=)

rs758818777 
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.183C>T (p.Ser61=)

rs753906914 
NM_000071.2(CBS):c.19dup (p.Gln7fs)

rs748695461 
NM_000071.2(CBS):c.209+236G>A


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.228C>T (p.Ile76=)

rs1555876151 
NM_000071.2(CBS):c.253G>A (p.Gly85Arg)

rs863223435 
NM_000071.2(CBS):c.296T>A (p.Phe99Tyr)

rs112029370 
NM_000071.2(CBS):c.304A>C (p.Lys102Gln)

rs34040148 
NM_000071.2(CBS):c.316+130G>A


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.348G>T (p.Gly116=)

rs902976689 
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.394C>T (p.Arg132Cys)

rs140002610 
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.401G>C (p.Gly134Ala)

rs766958673 
NM_000071.2(CBS):c.447C>T (p.Asn149=)

rs1457546374 
NM_000071.2(CBS):c.451+20G>A

rs1057520922 
NM_000071.2(CBS):c.451+75G>A


NM_000071.2(CBS):c.45212G>T

rs780064320 
NM_000071.2(CBS):c.456C>T (p.Ile152=)

rs769438280 
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.531+11G>A

rs186114513 
NM_000071.2(CBS):c.531G>C (p.Lys177Asn)

rs1064795022 
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del)

rs794727835 
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.5C>T (p.Pro2Leu)

rs546530618 
NM_000071.2(CBS):c.610G>A (p.Val204Met)

rs372679328 
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.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.65A>G (p.His22Arg)

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

rs376011228 
NM_000071.2(CBS):c.66714_6677del

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.689del (p.Leu230fs)

rs775351239 
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.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.750G>A (p.Met250Ile)

rs863223431 
NM_000071.2(CBS):c.770C>T (p.Thr257Met)

rs758236584 
NM_000071.2(CBS):c.785C>T (p.Thr262Met)

rs149119723 
NM_000071.2(CBS):c.828+20C>T

rs771093015 
NM_000071.2(CBS):c.828+237C>T


NM_000071.2(CBS):c.828+262A>T


NM_000071.2(CBS):c.82912C>T

rs75616587 
NM_000071.2(CBS):c.82913G>A

rs201106576 
NM_000071.2(CBS):c.82914C>T

rs370697155 
NM_000071.2(CBS):c.829265G>A


NM_000071.2(CBS):c.829320G>A


NM_000071.2(CBS):c.8293C>T

rs780624117 
NM_000071.2(CBS):c.82991G>A


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

rs5742905 
NM_000071.2(CBS):c.844C>T (p.Pro282Ser)

rs1057518515 
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC

rs863223428 
NM_000071.2(CBS):c.856A>G (p.Ile286Val)

rs147040567 
NM_000071.2(CBS):c.874_875delinsTT (p.Glu292Leu)

rs1064795178 
NM_000071.2(CBS):c.903C>T (p.Tyr301=)

rs746575551 
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.939G>A (p.Thr313=)

rs2228298 
NM_000071.2(CBS):c.954+18C>G

rs1057521202 
NM_000071.2(CBS):c.954+20C>T

rs372327925 
NM_000071.2(CBS):c.954+4G>A

rs770671402 
NM_000071.2(CBS):c.954+7C>T


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

rs76292057 
NM_000071.2(CBS):c.955108C>A


NM_000071.2(CBS):c.969G>A (p.Trp323Ter)

rs863223432 
NM_000071.2(CBS):c.992C>A (p.Ala331Glu)

rs777919630 