ClinVar Miner

List of variants in gene MAN2B1 reported as likely benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 858
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.*42G>A rs149101136 0.00647
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00281
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp) rs139290127 0.00175
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00132
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866 0.00109
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799 0.00083
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=) rs141077530 0.00074
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230 0.00072
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846 0.00069
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00066
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00052
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp) rs148080695 0.00036
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488 0.00032
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00031
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser) rs141276889 0.00030
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu) rs199967717 0.00026
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479 0.00026
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_000528.4(MAN2B1):c.2268-11C>T rs537217370 0.00017
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=) rs559827776 0.00016
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=) rs150866794 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436 0.00015
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00015
NM_000528.4(MAN2B1):c.1831-17G>A rs372997137 0.00013
NM_000528.4(MAN2B1):c.2165+20A>G rs201978883 0.00013
NM_000528.4(MAN2B1):c.1027-4G>A rs368900863 0.00012
NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp) rs150533763 0.00012
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535 0.00011
NM_000528.4(MAN2B1):c.2166-18C>T rs368669177 0.00011
NM_000528.4(MAN2B1):c.2658C>G (p.Arg886=) rs556554403 0.00011
NM_000528.4(MAN2B1):c.126G>C (p.Leu42=) rs900625808 0.00009
NM_000528.4(MAN2B1):c.1645-14C>T rs369999433 0.00009
NM_000528.4(MAN2B1):c.2040G>A (p.Leu680=) rs147342488 0.00009
NM_000528.4(MAN2B1):c.2437-20C>T rs1318280128 0.00009
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=) rs146331898 0.00009
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649 0.00009
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=) rs149484019 0.00009
NM_000528.4(MAN2B1):c.1929-16C>T rs774404642 0.00008
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=) rs763786776 0.00008
NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile) rs181476648 0.00007
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys) rs770791374 0.00007
NM_000528.4(MAN2B1):c.2047-12G>A rs769284524 0.00007
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00007
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984 0.00007
NM_000528.4(MAN2B1):c.1310-9T>C rs756430947 0.00006
NM_000528.4(MAN2B1):c.1528-8C>T rs369305495 0.00006
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042 0.00006
NM_000528.4(MAN2B1):c.2047-19C>T rs529363964 0.00006
NM_000528.4(MAN2B1):c.2047-4G>A rs768347546 0.00006
NM_000528.4(MAN2B1):c.2607G>T (p.Val869=) rs755344489 0.00006
NM_000528.4(MAN2B1):c.2665-17C>T rs575582119 0.00006
NM_000528.4(MAN2B1):c.642C>T (p.Asp214=) rs755806804 0.00006
NM_000528.4(MAN2B1):c.1026+9G>A rs762829719 0.00005
NM_000528.4(MAN2B1):c.1309+17A>C rs762485011 0.00005
NM_000528.4(MAN2B1):c.160-12G>A rs775808824 0.00005
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His) rs775247526 0.00005
NM_000528.4(MAN2B1):c.205C>G (p.Pro69Ala) rs200704731 0.00005
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00005
NM_000528.4(MAN2B1):c.1110-7G>A rs578109865 0.00004
NM_000528.4(MAN2B1):c.1420-5C>T rs370958430 0.00004
NM_000528.4(MAN2B1):c.1755C>G (p.Arg585=) rs759033353 0.00004
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=) rs146778702 0.00004
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579 0.00004
NM_000528.4(MAN2B1):c.2047-13C>T rs760151408 0.00004
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566 0.00004
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=) rs1406149211 0.00004
NM_000528.4(MAN2B1):c.263-12T>C rs1444171046 0.00004
NM_000528.4(MAN2B1):c.263-8A>G rs1463660136 0.00004
NM_000528.4(MAN2B1):c.282C>T (p.His94=) rs766810849 0.00004
NM_000528.4(MAN2B1):c.3015A>G (p.Gln1005=) rs570397849 0.00004
NM_000528.4(MAN2B1):c.552C>A (p.Gly184=) rs993605117 0.00004
NM_000528.4(MAN2B1):c.864C>T (p.Asn288=) rs146909343 0.00004
NM_000528.4(MAN2B1):c.909+9G>A rs767907971 0.00004
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=) rs762918325 0.00004
NM_000528.4(MAN2B1):c.1056C>T (p.Leu352=) rs375898929 0.00003
NM_000528.4(MAN2B1):c.1230+13C>T rs759000191 0.00003
NM_000528.4(MAN2B1):c.1231-16A>G rs757582067 0.00003
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154 0.00003
NM_000528.4(MAN2B1):c.1506G>A (p.Pro502=) rs1167317443 0.00003
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=) rs762375401 0.00003
NM_000528.4(MAN2B1):c.1818C>T (p.Thr606=) rs746035776 0.00003
NM_000528.4(MAN2B1):c.1830+20C>T rs751073488 0.00003
NM_000528.4(MAN2B1):c.1831-11T>C rs1030378548 0.00003
NM_000528.4(MAN2B1):c.2034C>A (p.Ile678=) rs546913005 0.00003
NM_000528.4(MAN2B1):c.2253G>A (p.Glu751=) rs781197939 0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=) rs746514019 0.00003
NM_000528.4(MAN2B1):c.2355+13C>G rs568609418 0.00003
NM_000528.4(MAN2B1):c.2821-5C>T rs761870446 0.00003
NM_000528.4(MAN2B1):c.2946G>A (p.Pro982=) rs192184706 0.00003
NM_000528.4(MAN2B1):c.322T>C (p.Leu108=) rs766694689 0.00003
NM_000528.4(MAN2B1):c.631-19T>C rs1335847495 0.00003
NM_000528.4(MAN2B1):c.764-11G>A rs747871268 0.00003
NM_000528.4(MAN2B1):c.909+15C>T rs1017356457 0.00003
NM_000528.4(MAN2B1):c.1125C>T (p.Asp375=) rs146715588 0.00002
NM_000528.4(MAN2B1):c.1203C>T (p.Tyr401=) rs781291011 0.00002
NM_000528.4(MAN2B1):c.1230+17C>T rs374408823 0.00002
NM_000528.4(MAN2B1):c.1309+7del rs1382121208 0.00002
NM_000528.4(MAN2B1):c.1420-12G>T rs1022564280 0.00002
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=) rs754672974 0.00002
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940 0.00002
NM_000528.4(MAN2B1):c.159+12C>T rs760881043 0.00002
NM_000528.4(MAN2B1):c.159+9G>A rs764391534 0.00002
NM_000528.4(MAN2B1):c.160-7T>C rs769498383 0.00002
NM_000528.4(MAN2B1):c.1772G>A (p.Arg591His) rs544475124 0.00002
NM_000528.4(MAN2B1):c.2166C>T (p.Gly722=) rs770976179 0.00002
NM_000528.4(MAN2B1):c.2267+11A>G rs1338089295 0.00002
NM_000528.4(MAN2B1):c.2267+9T>C rs750833439 0.00002
NM_000528.4(MAN2B1):c.2349C>T (p.Tyr783=) rs948101708 0.00002
NM_000528.4(MAN2B1):c.2356-17C>G rs2023776596 0.00002
NM_000528.4(MAN2B1):c.2424G>A (p.Ser808=) rs762947868 0.00002
NM_000528.4(MAN2B1):c.2436+8G>T rs1375276402 0.00002
NM_000528.4(MAN2B1):c.2655G>A (p.Pro885=) rs1046211352 0.00002
NM_000528.4(MAN2B1):c.2923+16G>A rs373821522 0.00002
NM_000528.4(MAN2B1):c.2923+9C>T rs771288611 0.00002
NM_000528.4(MAN2B1):c.437-6G>A rs1471583306 0.00002
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797 0.00002
NM_000528.4(MAN2B1):c.763+9C>T rs1266555392 0.00002
NM_000528.4(MAN2B1):c.910-20G>A rs376680335 0.00002
NM_000528.4(MAN2B1):c.933C>T (p.His311=) rs760393236 0.00002
NM_000528.4(MAN2B1):c.1012C>T (p.Leu338=) rs143670944 0.00001
NM_000528.4(MAN2B1):c.1020T>C (p.Asn340=) rs1389459819 0.00001
NM_000528.4(MAN2B1):c.1026+14C>T rs2024095463 0.00001
NM_000528.4(MAN2B1):c.1026+7G>T rs767145790 0.00001
NM_000528.4(MAN2B1):c.1026+8C>T rs199908179 0.00001
NM_000528.4(MAN2B1):c.1027-14G>A rs766032063 0.00001
NM_000528.4(MAN2B1):c.1027-15C>T rs1382182354 0.00001
NM_000528.4(MAN2B1):c.1027-18C>T rs751227346 0.00001
NM_000528.4(MAN2B1):c.1044T>C (p.Ser348=) rs765139571 0.00001
NM_000528.4(MAN2B1):c.1059C>T (p.Tyr353=) rs200323310 0.00001
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=) rs746182835 0.00001
NM_000528.4(MAN2B1):c.1109+10G>A rs779635675 0.00001
NM_000528.4(MAN2B1):c.1109+8G>T rs1162803601 0.00001
NM_000528.4(MAN2B1):c.1110-13C>A rs1466117852 0.00001
NM_000528.4(MAN2B1):c.1110-17T>C rs1408353828 0.00001
NM_000528.4(MAN2B1):c.1110-18A>G rs749676791 0.00001
NM_000528.4(MAN2B1):c.114C>T (p.Phe38=) rs2024251453 0.00001
NM_000528.4(MAN2B1):c.1188G>A (p.Pro396=) rs749011134 0.00001
NM_000528.4(MAN2B1):c.1221C>T (p.Asn407=) rs766462027 0.00001
NM_000528.4(MAN2B1):c.1230+7A>T rs2024019411 0.00001
NM_000528.4(MAN2B1):c.1231-8G>T rs773727577 0.00001
NM_000528.4(MAN2B1):c.1245G>A (p.Leu415=) rs2024015718 0.00001
NM_000528.4(MAN2B1):c.1287C>T (p.Gly429=) rs1403792864 0.00001
NM_000528.4(MAN2B1):c.1290C>T (p.Ser430=) rs757526946 0.00001
NM_000528.4(MAN2B1):c.1309+10G>A rs1424931652 0.00001
NM_000528.4(MAN2B1):c.1309+11G>T rs1282154871 0.00001
NM_000528.4(MAN2B1):c.1309+18G>C rs772617831 0.00001
NM_000528.4(MAN2B1):c.1309+9C>T rs756595469 0.00001
NM_000528.4(MAN2B1):c.1329C>A (p.Leu443=) rs781687405 0.00001
NM_000528.4(MAN2B1):c.1341C>T (p.Asp447=) rs529471612 0.00001
NM_000528.4(MAN2B1):c.1420-19C>A rs1283596905 0.00001
NM_000528.4(MAN2B1):c.1440G>C (p.Leu480=) rs1159688563 0.00001
NM_000528.4(MAN2B1):c.1527+10G>A rs1262889501 0.00001
NM_000528.4(MAN2B1):c.1527+13G>A rs765251248 0.00001
NM_000528.4(MAN2B1):c.1527+20G>A rs761752310 0.00001
NM_000528.4(MAN2B1):c.1527+7C>T rs1214746235 0.00001
NM_000528.4(MAN2B1):c.1528-10G>A rs561164635 0.00001
NM_000528.4(MAN2B1):c.1528-11C>T rs764331693 0.00001
NM_000528.4(MAN2B1):c.1528-13C>T rs370684953 0.00001
NM_000528.4(MAN2B1):c.1528-19C>A rs372741817 0.00001
NM_000528.4(MAN2B1):c.1539C>A (p.Ile513=) rs1277779220 0.00001
NM_000528.4(MAN2B1):c.1551C>T (p.Pro517=) rs771310368 0.00001
NM_000528.4(MAN2B1):c.1578A>T (p.Val526=) rs768096085 0.00001
NM_000528.4(MAN2B1):c.159+10G>A rs1290898228 0.00001
NM_000528.4(MAN2B1):c.159+20T>C rs1258867565 0.00001
NM_000528.4(MAN2B1):c.1590C>T (p.Val530=) rs528580176 0.00001
NM_000528.4(MAN2B1):c.1593C>T (p.Ser531=) rs757131800 0.00001
NM_000528.4(MAN2B1):c.160-17T>C rs1302910706 0.00001
NM_000528.4(MAN2B1):c.160-5T>C rs902325469 0.00001
NM_000528.4(MAN2B1):c.1623T>C (p.Asn541=) rs1188010499 0.00001
NM_000528.4(MAN2B1):c.162A>G (p.Thr54=) rs1441130613 0.00001
NM_000528.4(MAN2B1):c.1632A>G (p.Thr544=) rs2023964465 0.00001
NM_000528.4(MAN2B1):c.1644+16G>A rs1348633876 0.00001
NM_000528.4(MAN2B1):c.1645-19C>T rs1228497674 0.00001
NM_000528.4(MAN2B1):c.1645-7A>G rs1384851767 0.00001
NM_000528.4(MAN2B1):c.165C>T (p.Cys55=) rs1369828870 0.00001
NM_000528.4(MAN2B1):c.1695G>A (p.Leu565=) rs748152945 0.00001
NM_000528.4(MAN2B1):c.1701A>G (p.Ser567=) rs2023940933 0.00001
NM_000528.4(MAN2B1):c.1708C>T (p.Leu570=) rs150479159 0.00001
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586 0.00001
NM_000528.4(MAN2B1):c.1773C>T (p.Arg591=) rs987054644 0.00001
NM_000528.4(MAN2B1):c.1782G>A (p.Gln594=) rs573996230 0.00001
NM_000528.4(MAN2B1):c.1806C>G (p.Ser602=) rs1355517685 0.00001
NM_000528.4(MAN2B1):c.180G>A (p.Pro60=) rs1043541354 0.00001
NM_000528.4(MAN2B1):c.1903C>T (p.Leu635=) rs556533847 0.00001
NM_000528.4(MAN2B1):c.1923C>T (p.Phe641=) rs1481346197 0.00001
NM_000528.4(MAN2B1):c.1928+17A>G rs2512492926 0.00001
NM_000528.4(MAN2B1):c.1929-19T>C rs930032324 0.00001
NM_000528.4(MAN2B1):c.1932C>T (p.Tyr644=) rs2145239589 0.00001
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=) rs547133035 0.00001
NM_000528.4(MAN2B1):c.195G>T (p.Val65=) rs1483030644 0.00001
NM_000528.4(MAN2B1):c.1980C>T (p.Tyr660=) rs564693678 0.00001
NM_000528.4(MAN2B1):c.1992C>T (p.Pro664=) rs1207243486 0.00001
NM_000528.4(MAN2B1):c.201G>A (p.Leu67=) rs1329607881 0.00001
NM_000528.4(MAN2B1):c.2043G>A (p.Val681=) rs1459767457 0.00001
NM_000528.4(MAN2B1):c.2046+12G>A rs769321710 0.00001
NM_000528.4(MAN2B1):c.2046+16T>G rs747744607 0.00001
NM_000528.4(MAN2B1):c.2047-14C>T rs2512490172 0.00001
NM_000528.4(MAN2B1):c.2047-15C>A rs772448821 0.00001
NM_000528.4(MAN2B1):c.2047-17C>T rs940088931 0.00001
NM_000528.4(MAN2B1):c.2076C>T (p.Asn692=) rs376110556 0.00001
NM_000528.4(MAN2B1):c.2151G>A (p.Gly717=) rs746606611 0.00001
NM_000528.4(MAN2B1):c.2166-12C>G rs771668348 0.00001
NM_000528.4(MAN2B1):c.2178G>A (p.Gly726=) rs1475690846 0.00001
NM_000528.4(MAN2B1):c.2193C>T (p.Ser731=) rs1396810329 0.00001
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=) rs750890285 0.00001
NM_000528.4(MAN2B1):c.2226C>T (p.Arg742=) rs774156075 0.00001
NM_000528.4(MAN2B1):c.2250G>A (p.Arg750=) rs2145232390 0.00001
NM_000528.4(MAN2B1):c.2265G>A (p.Arg755=) rs1177894927 0.00001
NM_000528.4(MAN2B1):c.2267+17A>C rs555203186 0.00001
NM_000528.4(MAN2B1):c.2271G>T (p.Arg757=) rs746029937 0.00001
NM_000528.4(MAN2B1):c.228C>T (p.Gly76=) rs2024218273 0.00001
NM_000528.4(MAN2B1):c.2304G>A (p.Thr768=) rs749978005 0.00001
NM_000528.4(MAN2B1):c.2356-14C>T rs1438569371 0.00001
NM_000528.4(MAN2B1):c.2356-15C>T rs2023776545 0.00001
NM_000528.4(MAN2B1):c.2361A>G (p.Gly787=) rs955076933 0.00001
NM_000528.4(MAN2B1):c.240C>T (p.Thr80=) rs772053358 0.00001
NM_000528.4(MAN2B1):c.2437-12C>T rs1160000381 0.00001
NM_000528.4(MAN2B1):c.2437-6C>T rs1021381108 0.00001
NM_000528.4(MAN2B1):c.2452C>T (p.Leu818=) rs1229633454 0.00001
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=) rs561895292 0.00001
NM_000528.4(MAN2B1):c.2478G>A (p.Ser826=) rs958869615 0.00001
NM_000528.4(MAN2B1):c.2487A>C (p.Leu829=) rs540034802 0.00001
NM_000528.4(MAN2B1):c.2493G>A (p.Glu831=) rs991095656 0.00001
NM_000528.4(MAN2B1):c.2499G>A (p.Gly833=) rs886750475 0.00001
NM_000528.4(MAN2B1):c.2526C>T (p.His842=) rs761344747 0.00001
NM_000528.4(MAN2B1):c.2547C>G (p.Ala849=) rs1040271670 0.00001
NM_000528.4(MAN2B1):c.2559C>T (p.Ala853=) rs1231981026 0.00001
NM_000528.4(MAN2B1):c.2577G>A (p.Leu859=) rs1219899115 0.00001
NM_000528.4(MAN2B1):c.2583G>A (p.Glu861=) rs778022209 0.00001
NM_000528.4(MAN2B1):c.2616C>T (p.Ala872=) rs1211391418 0.00001
NM_000528.4(MAN2B1):c.262+11G>A rs756257725 0.00001
NM_000528.4(MAN2B1):c.262+17G>A rs752981029 0.00001
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=) rs545541738 0.00001
NM_000528.4(MAN2B1):c.263-7T>C rs756239857 0.00001
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=) rs775212002 0.00001
NM_000528.4(MAN2B1):c.2664+13G>A rs759423485 0.00001
NM_000528.4(MAN2B1):c.2664+16G>A rs1272824272 0.00001
NM_000528.4(MAN2B1):c.2664+18A>G rs1298297222 0.00001
NM_000528.4(MAN2B1):c.2665-11C>T rs1181757322 0.00001
NM_000528.4(MAN2B1):c.2665-12T>C rs781508235 0.00001
NM_000528.4(MAN2B1):c.2665-15C>T rs1248528325 0.00001
NM_000528.4(MAN2B1):c.2665-16G>A rs2023723670 0.00001
NM_000528.4(MAN2B1):c.2673G>A (p.Gly891=) rs1291846218 0.00001
NM_000528.4(MAN2B1):c.2676G>A (p.Leu892=) rs750952284 0.00001
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val) rs751849414 0.00001
NM_000528.4(MAN2B1):c.2820+8G>A rs1011078500 0.00001
NM_000528.4(MAN2B1):c.2821-12C>T rs1248363467 0.00001
NM_000528.4(MAN2B1):c.2821-16A>C rs370579499 0.00001
NM_000528.4(MAN2B1):c.2821-17C>G rs1047812725 0.00001
NM_000528.4(MAN2B1):c.2821-19C>T rs1187808331 0.00001
NM_000528.4(MAN2B1):c.2821-8C>A rs2512484558 0.00001
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=) rs1318861970 0.00001
NM_000528.4(MAN2B1):c.2877C>T (p.Asn959=) rs544567546 0.00001
NM_000528.4(MAN2B1):c.2892A>G (p.Ala964=) rs377438700 0.00001
NM_000528.4(MAN2B1):c.2923+20T>A rs1229516687 0.00001
NM_000528.4(MAN2B1):c.2961G>A (p.Pro987=) rs369658144 0.00001
NM_000528.4(MAN2B1):c.2970C>A (p.Ile990=) rs777484621 0.00001
NM_000528.4(MAN2B1):c.3000C>T (p.Phe1000=) rs765633432 0.00001
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=) rs2023694204 0.00001
NM_000528.4(MAN2B1):c.3024G>A (p.Glu1008=) rs770441236 0.00001
NM_000528.4(MAN2B1):c.3030T>C (p.Asp1010=) rs1233830091 0.00001
NM_000528.4(MAN2B1):c.3033T>C (p.Gly1011=) rs1388469279 0.00001
NM_000528.4(MAN2B1):c.321C>T (p.Ala107=) rs200373194 0.00001
NM_000528.4(MAN2B1):c.354C>T (p.Tyr118=) rs150012768 0.00001
NM_000528.4(MAN2B1):c.366C>G (p.Ala122=) rs1258536041 0.00001
NM_000528.4(MAN2B1):c.402C>T (p.Ala134=) rs1399051966 0.00001
NM_000528.4(MAN2B1):c.414C>T (p.Val138=) rs1196427185 0.00001
NM_000528.4(MAN2B1):c.429G>A (p.Val143=) rs2145288992 0.00001
NM_000528.4(MAN2B1):c.436+14A>G rs369781893 0.00001
NM_000528.4(MAN2B1):c.436+7C>T rs769700077 0.00001
NM_000528.4(MAN2B1):c.437-4dup rs2512515073 0.00001
NM_000528.4(MAN2B1):c.437-8T>C rs377203049 0.00001
NM_000528.4(MAN2B1):c.438G>A (p.Gly146=) rs1358726379 0.00001
NM_000528.4(MAN2B1):c.444G>C (p.Leu148=) rs794727626 0.00001
NM_000528.4(MAN2B1):c.450C>T (p.Phe150=) rs776494571 0.00001
NM_000528.4(MAN2B1):c.510C>T (p.Asp170=) rs1280928119 0.00001
NM_000528.4(MAN2B1):c.591C>T (p.Pro197=) rs753665587 0.00001
NM_000528.4(MAN2B1):c.618G>A (p.Ser206=) rs1287151465 0.00001
NM_000528.4(MAN2B1):c.630+9C>T rs756927782 0.00001
NM_000528.4(MAN2B1):c.631-12C>T rs1443493290 0.00001
NM_000528.4(MAN2B1):c.631-9C>T rs756874617 0.00001
NM_000528.4(MAN2B1):c.732C>T (p.Ser244=) rs1434898897 0.00001
NM_000528.4(MAN2B1):c.750G>A (p.Ala250=) rs747845335 0.00001
NM_000528.4(MAN2B1):c.764-14G>T rs373864097 0.00001
NM_000528.4(MAN2B1):c.764-20G>A rs772796727 0.00001
NM_000528.4(MAN2B1):c.771T>A (p.Leu257=) rs2512511526 0.00001
NM_000528.4(MAN2B1):c.810T>C (p.Asp270=) rs2145281612 0.00001
NM_000528.4(MAN2B1):c.822C>T (p.Val274=) rs750447748 0.00001
NM_000528.4(MAN2B1):c.831G>A (p.Pro277=) rs757417272 0.00001
NM_000528.4(MAN2B1):c.840G>A (p.Glu280=) rs764312812 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000528.4(MAN2B1):c.876G>A (p.Leu292=) rs768458196 0.00001
NM_000528.4(MAN2B1):c.879C>T (p.Val293=) rs746756800 0.00001
NM_000528.4(MAN2B1):c.889C>T (p.Leu297=) rs771874603 0.00001
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=) rs749372996 0.00001
NM_000528.4(MAN2B1):c.909+20C>A rs557695977 0.00001
NM_000528.4(MAN2B1):c.910-16C>T rs749313909 0.00001
NM_000528.4(MAN2B1):c.915G>A (p.Arg305=) rs755994517 0.00001
NM_000528.4(MAN2B1):c.915G>T (p.Arg305=) rs755994517 0.00001
NM_000528.4(MAN2B1):c.921C>T (p.Tyr307=) rs35087690 0.00001
NM_000528.4(MAN2B1):c.927C>T (p.Thr309=) rs759023914 0.00001
NM_000528.4(MAN2B1):c.945C>T (p.Thr315=) rs2024099652 0.00001
NM_000528.4(MAN2B1):c.954G>A (p.Ser318=) rs770875556 0.00001
NM_000528.4(MAN2B1):c.972T>C (p.Asn324=) rs1284707476 0.00001
NM_000528.4(MAN2B1):c.1005C>T (p.Leu335=) rs2024097470
NM_000528.4(MAN2B1):c.1008C>A (p.Ile336=) rs781438438
NM_000528.4(MAN2B1):c.1023G>A (p.Ala341=) rs755616565
NM_000528.4(MAN2B1):c.1026+10C>T rs2512507921
NM_000528.4(MAN2B1):c.1026+13A>C rs2024095539
NM_000528.4(MAN2B1):c.1026+15C>A rs2512507911
NM_000528.4(MAN2B1):c.1026+17T>C rs2512507906
NM_000528.4(MAN2B1):c.1026+20G>A rs2512507903
NM_000528.4(MAN2B1):c.1027-12C>G rs762668361
NM_000528.4(MAN2B1):c.1027-16T>C
NM_000528.4(MAN2B1):c.1027-17G>A rs1335221606
NM_000528.4(MAN2B1):c.1027-18C>A rs751227346
NM_000528.4(MAN2B1):c.1027-18C>G rs751227346
NM_000528.4(MAN2B1):c.1027-19C>G rs1449936658
NM_000528.4(MAN2B1):c.1027-20T>C rs754654189
NM_000528.4(MAN2B1):c.1027-6C>T rs2512504286
NM_000528.4(MAN2B1):c.1027-7C>T rs1454372793
NM_000528.4(MAN2B1):c.1027-9C>T rs2512504298
NM_000528.4(MAN2B1):c.1032A>G (p.Ala344=) rs1386894008
NM_000528.4(MAN2B1):c.1035A>G (p.Lys345=) rs2512504259
NM_000528.4(MAN2B1):c.1047C>T (p.Val349=) rs2512504238
NM_000528.4(MAN2B1):c.105C>G (p.Leu35=) rs2512520096
NM_000528.4(MAN2B1):c.1062C>T (p.Ser354=) rs2145262172
NM_000528.4(MAN2B1):c.1065C>G (p.Thr355=) rs1568304566
NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1071T>C (p.Ala357=) rs1295883552
NM_000528.4(MAN2B1):c.1104C>A (p.Leu368=) rs372217078
NM_000528.4(MAN2B1):c.1104C>G (p.Leu368=) rs372217078
NM_000528.4(MAN2B1):c.1104C>T (p.Leu368=) rs372217078
NM_000528.4(MAN2B1):c.1109+13A>C rs2512504007
NM_000528.4(MAN2B1):c.1109+17G>C
NM_000528.4(MAN2B1):c.1109+20A>T rs2512503999
NM_000528.4(MAN2B1):c.1110-10G>A rs2512503855
NM_000528.4(MAN2B1):c.1110-17dup rs2512503868
NM_000528.4(MAN2B1):c.1110-4G>A rs758041910
NM_000528.4(MAN2B1):c.1110-4G>T rs758041910
NM_000528.4(MAN2B1):c.1110-5T>G rs779580825
NM_000528.4(MAN2B1):c.1134C>T (p.Phe378=) rs756124107
NM_000528.4(MAN2B1):c.1140C>T (p.Tyr380=) rs767768982
NM_000528.4(MAN2B1):c.1149C>T (p.Gly383=) rs2024023052
NM_000528.4(MAN2B1):c.1155C>T (p.His385=) rs2145261164
NM_000528.4(MAN2B1):c.1167C>G (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro) rs1479309756
NM_000528.4(MAN2B1):c.1188G>C (p.Pro396=) rs749011134
NM_000528.4(MAN2B1):c.1206G>A (p.Glu402=) rs1221988260
NM_000528.4(MAN2B1):c.1209C>T (p.Arg403=) rs559827776
NM_000528.4(MAN2B1):c.121T>C (p.Leu41=) rs2024251002
NM_000528.4(MAN2B1):c.1230+14G>A rs773957286
NM_000528.4(MAN2B1):c.1230+14G>C rs773957286
NM_000528.4(MAN2B1):c.1230+14G>T rs773957286
NM_000528.4(MAN2B1):c.1230+15G>A rs2024019027
NM_000528.4(MAN2B1):c.1230+16G>A rs2512503418
NM_000528.4(MAN2B1):c.1230+20G>A rs2512503410
NM_000528.4(MAN2B1):c.1230+20G>C rs2512503410
NM_000528.4(MAN2B1):c.1230+7A>G rs2024019411
NM_000528.4(MAN2B1):c.1231-13C>A rs372848519
NM_000528.4(MAN2B1):c.1231-13C>G rs372848519
NM_000528.4(MAN2B1):c.1231-17T>A rs2512503299
NM_000528.4(MAN2B1):c.1231-3del
NM_000528.4(MAN2B1):c.1231-5T>A rs1419185296
NM_000528.4(MAN2B1):c.1231-5T>C rs1419185296
NM_000528.4(MAN2B1):c.1231-5_1231-4dup rs2145260260
NM_000528.4(MAN2B1):c.1231-6C>T rs2512503266
NM_000528.4(MAN2B1):c.1231-7C>T rs2145260291
NM_000528.4(MAN2B1):c.1239C>T (p.Asn413=)
NM_000528.4(MAN2B1):c.1248G>A (p.Glu416=) rs2512503214
NM_000528.4(MAN2B1):c.1251G>A (p.Ala417=) rs1055070863
NM_000528.4(MAN2B1):c.1252C>T (p.Leu418=) rs2145260099
NM_000528.4(MAN2B1):c.1263G>A (p.Leu421=) rs747901214
NM_000528.4(MAN2B1):c.1269C>T (p.Ala423=) rs2145260034
NM_000528.4(MAN2B1):c.1272C>T (p.Asn424=) rs768711346
NM_000528.4(MAN2B1):c.1278A>T (p.Gly426=) rs950266158
NM_000528.4(MAN2B1):c.1302A>C (p.Ala434=) rs2145259880
NM_000528.4(MAN2B1):c.1309+14C>G rs2512502964
NM_000528.4(MAN2B1):c.1309+7G>A rs2145259814
NM_000528.4(MAN2B1):c.1309+7G>T rs2145259814
NM_000528.4(MAN2B1):c.1309+8T>G rs2512502983
NM_000528.4(MAN2B1):c.1310-12G>C rs2512501828
NM_000528.4(MAN2B1):c.1310-14T>C rs1418757949
NM_000528.4(MAN2B1):c.1310-16C>A rs2512501838
NM_000528.4(MAN2B1):c.1310-18C>T
NM_000528.4(MAN2B1):c.1310-4G>A rs2512501810
NM_000528.4(MAN2B1):c.1310-7T>C rs2145257269
NM_000528.4(MAN2B1):c.1310-8A>G rs2512501822
NM_000528.4(MAN2B1):c.1323T>C (p.Ala441=) rs2512501745
NM_000528.4(MAN2B1):c.1335T>C (p.His445=) rs2512501718
NM_000528.4(MAN2B1):c.135C>G (p.Ala45=) rs200413076
NM_000528.4(MAN2B1):c.141T>C (p.Ala47=) rs2512519938
NM_000528.4(MAN2B1):c.1420-13C>T rs1356099508
NM_000528.4(MAN2B1):c.1420-14G>A rs2023980927
NM_000528.4(MAN2B1):c.1420-14G>C rs2023980927
NM_000528.4(MAN2B1):c.1420-14G>T rs2023980927
NM_000528.4(MAN2B1):c.1420-19C>T rs1283596905
NM_000528.4(MAN2B1):c.1420-4G>A rs903942990
NM_000528.4(MAN2B1):c.1420-4G>T rs903942990
NM_000528.4(MAN2B1):c.1420-5del rs2512500304
NM_000528.4(MAN2B1):c.1420-9C>T rs2023980770
NM_000528.4(MAN2B1):c.1437G>A (p.Ala479=) rs139435774
NM_000528.4(MAN2B1):c.1443G>A (p.Ala481=) rs2145254460
NM_000528.4(MAN2B1):c.1446G>A (p.Arg482=) rs2023979297
NM_000528.4(MAN2B1):c.1446G>C (p.Arg482=) rs2023979297
NM_000528.4(MAN2B1):c.1455C>T (p.Gly485=) rs2512500119
NM_000528.4(MAN2B1):c.1464T>C (p.Asp488=) rs2145254316
NM_000528.4(MAN2B1):c.1467C>T (p.His489=) rs2145254289
NM_000528.4(MAN2B1):c.1482A>G (p.Gln494=)
NM_000528.4(MAN2B1):c.1485G>A (p.Gln495=) rs2512500040
NM_000528.4(MAN2B1):c.1503C>T (p.Cys501=) rs886054230
NM_000528.4(MAN2B1):c.1506G>C (p.Pro502=) rs1167317443
NM_000528.4(MAN2B1):c.1509C>T (p.Leu503=) rs1406503787
NM_000528.4(MAN2B1):c.150G>C (p.Gly50=) rs2145293903
NM_000528.4(MAN2B1):c.1515G>A (p.Gln505=) rs2512499970
NM_000528.4(MAN2B1):c.1521G>A (p.Ala507=) rs143318498
NM_000528.4(MAN2B1):c.1524G>A (p.Ala508=) rs1487601808
NM_000528.4(MAN2B1):c.1527+12C>G rs2023976222
NM_000528.4(MAN2B1):c.1527+12C>T
NM_000528.4(MAN2B1):c.1527+13G>T rs765251248
NM_000528.4(MAN2B1):c.1527+20G>T rs761752310
NM_000528.4(MAN2B1):c.1527+8G>A rs1216647114
NM_000528.4(MAN2B1):c.1527+8G>C rs1216647114
NM_000528.4(MAN2B1):c.1528-12C>A rs2512499428
NM_000528.4(MAN2B1):c.1528-14C>G rs997516716
NM_000528.4(MAN2B1):c.1528-14C>T
NM_000528.4(MAN2B1):c.1528-17G>C rs2512499444
NM_000528.4(MAN2B1):c.1528-5C>T rs1177088769
NM_000528.4(MAN2B1):c.1539C>T (p.Ile513=) rs1277779220
NM_000528.4(MAN2B1):c.153A>T (p.Gly51=) rs2512519866
NM_000528.4(MAN2B1):c.1548T>C (p.Asn516=) rs2512499346
NM_000528.4(MAN2B1):c.1552C>T (p.Leu518=) rs2512499328
NM_000528.4(MAN2B1):c.1584G>C (p.Leu528=) rs2023966726
NM_000528.4(MAN2B1):c.1584G>T (p.Leu528=) rs2023966726
NM_000528.4(MAN2B1):c.1587G>A (p.Pro529=) rs771761940
NM_000528.4(MAN2B1):c.159+15C>G rs566176179
NM_000528.4(MAN2B1):c.159+15C>T rs566176179
NM_000528.4(MAN2B1):c.159+16G>C rs1269163497
NM_000528.4(MAN2B1):c.159+7G>A rs2145293824
NM_000528.4(MAN2B1):c.159+9G>C rs764391534
NM_000528.4(MAN2B1):c.160-19G>A rs760972081
NM_000528.4(MAN2B1):c.160-26_160-16dup
NM_000528.4(MAN2B1):c.160-6G>A rs2512517757
NM_000528.4(MAN2B1):c.1605C>T (p.Phe535=) rs1421304561
NM_000528.4(MAN2B1):c.1638C>T (p.Pro546=) rs1487797508
NM_000528.4(MAN2B1):c.1641C>T (p.Ser547=) rs1295503998
NM_000528.4(MAN2B1):c.1644+12_1644+18dup rs1243313043
NM_000528.4(MAN2B1):c.1644+13_1644+15del rs781549790
NM_000528.4(MAN2B1):c.1644+15C>T rs1198594053
NM_000528.4(MAN2B1):c.1644+16G>C rs1348633876
NM_000528.4(MAN2B1):c.1644+18A>G rs2512499041
NM_000528.4(MAN2B1):c.1645-11C>T rs2512497838
NM_000528.4(MAN2B1):c.1645-12C>G rs756166631
NM_000528.4(MAN2B1):c.1645-12C>T
NM_000528.4(MAN2B1):c.1645-16T>C rs2512497846
NM_000528.4(MAN2B1):c.1645-18CCT[2] rs2023943075
NM_000528.4(MAN2B1):c.1645-9T>C rs2145250951
NM_000528.4(MAN2B1):c.1659C>T (p.Pro553=) rs1376701673
NM_000528.4(MAN2B1):c.1662C>T (p.Ser554=) rs755140505
NM_000528.4(MAN2B1):c.1668C>T (p.Asp556=) rs766513928
NM_000528.4(MAN2B1):c.1671C>T (p.Ser557=) rs2512497755
NM_000528.4(MAN2B1):c.1674G>A (p.Gln558=) rs138349480
NM_000528.4(MAN2B1):c.168C>T (p.Pro56=) rs2512517705
NM_000528.4(MAN2B1):c.1695G>C (p.Leu565=) rs748152945
NM_000528.4(MAN2B1):c.1704C>T (p.Ala568=) rs781005116
NM_000528.4(MAN2B1):c.1707A>G (p.Ser569=) rs2023940676
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser) rs377104016
NM_000528.4(MAN2B1):c.1716C>T (p.Ala572=) rs2023940192
NM_000528.4(MAN2B1):c.1717C>T (p.Leu573=) rs1183097697
NM_000528.4(MAN2B1):c.1719G>T (p.Leu573=) rs367980012
NM_000528.4(MAN2B1):c.1725C>T (p.Phe575=) rs750784245
NM_000528.4(MAN2B1):c.1734T>C (p.Tyr578=) rs1291856947
NM_000528.4(MAN2B1):c.1740A>G (p.Val580=) rs757635212
NM_000528.4(MAN2B1):c.1770C>T (p.Ala590=) rs2512497565
NM_000528.4(MAN2B1):c.177G>A (p.Gln59=)
NM_000528.4(MAN2B1):c.1788C>A (p.Ile596=) rs969379236
NM_000528.4(MAN2B1):c.1788C>T (p.Ile596=) rs969379236
NM_000528.4(MAN2B1):c.1792A>C (p.Arg598=) rs1214640045
NM_000528.4(MAN2B1):c.1821C>T (p.Ile607=) rs2023936980
NM_000528.4(MAN2B1):c.1824A>G (p.Glu608=) rs2512497411
NM_000528.4(MAN2B1):c.1830+10C>T rs2145249971
NM_000528.4(MAN2B1):c.1830+7C>T rs2145249984
NM_000528.4(MAN2B1):c.1830+8C>G rs2512497386
NM_000528.4(MAN2B1):c.1830+9C>G rs1347363395
NM_000528.4(MAN2B1):c.1830+9C>T rs1347363395
NM_000528.4(MAN2B1):c.1831-14C>G rs771195764
NM_000528.4(MAN2B1):c.1831-19T>A rs745974822
NM_000528.4(MAN2B1):c.1831-3dup
NM_000528.4(MAN2B1):c.1831-5C>T rs778068734
NM_000528.4(MAN2B1):c.1833C>T (p.His611=) rs2145240327
NM_000528.4(MAN2B1):c.1836C>T (p.Ile612=) rs1420480303
NM_000528.4(MAN2B1):c.1839G>A (p.Arg613=) rs2512493183
NM_000528.4(MAN2B1):c.183C>T (p.Asn61=) rs2145290875
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.1866G>A (p.Leu622=) rs2023860756
NM_000528.4(MAN2B1):c.1869G>A (p.Leu623=) rs2512493137
NM_000528.4(MAN2B1):c.1875G>A (p.Glu625=) rs753652903
NM_000528.4(MAN2B1):c.1896A>G (p.Gln632=) rs1355122862
NM_000528.4(MAN2B1):c.1899C>T (p.Leu633=) rs759584931
NM_000528.4(MAN2B1):c.1902G>A (p.Leu634=) rs2145240022
NM_000528.4(MAN2B1):c.1908T>G (p.Pro636=) rs2145239992
NM_000528.4(MAN2B1):c.1926C>T (p.Phe642=) rs2145239886
NM_000528.4(MAN2B1):c.1928+10G>T
NM_000528.4(MAN2B1):c.1928+13C>T rs2512492934
NM_000528.4(MAN2B1):c.1928+14A>C rs905114742
NM_000528.4(MAN2B1):c.1928+7G>A rs2512492949
NM_000528.4(MAN2B1):c.1929-11C>T rs1484520206
NM_000528.4(MAN2B1):c.1929-16C>A rs774404642
NM_000528.4(MAN2B1):c.1929-19_1929-18del rs754980913
NM_000528.4(MAN2B1):c.1929-4C>G rs2512492786
NM_000528.4(MAN2B1):c.1929-7A>C rs372416386
NM_000528.4(MAN2B1):c.1929-7A>T rs372416386
NM_000528.4(MAN2B1):c.192C>T (p.Asn64=) rs774892701
NM_000528.4(MAN2B1):c.1950C>T (p.Asp650=) rs2512492719
NM_000528.4(MAN2B1):c.1959T>C (p.Ser653=) rs1399579935
NM_000528.4(MAN2B1):c.1971A>C (p.Ser657=) rs2512492661
NM_000528.4(MAN2B1):c.1974T>C (p.Gly658=) rs2512492649
NM_000528.4(MAN2B1):c.2004A>G (p.Lys668=) rs750566481
NM_000528.4(MAN2B1):c.2007G>T (p.Pro669=) rs762152042
NM_000528.4(MAN2B1):c.2008C>T (p.Leu670=) rs2145239106
NM_000528.4(MAN2B1):c.2010G>A (p.Leu670=) rs2023852831
NM_000528.4(MAN2B1):c.2037C>T (p.His679=)
NM_000528.4(MAN2B1):c.2047-12G>C rs769284524
NM_000528.4(MAN2B1):c.2047-14C>A rs2512490172
NM_000528.4(MAN2B1):c.2047-14C>G rs2512490172
NM_000528.4(MAN2B1):c.2047-15C>T rs772448821
NM_000528.4(MAN2B1):c.2047-6C>T rs2068265262
NM_000528.4(MAN2B1):c.2047-7C>T rs2512490147
NM_000528.4(MAN2B1):c.2047-8G>C
NM_000528.4(MAN2B1):c.2052C>G (p.Pro684=) rs921831751
NM_000528.4(MAN2B1):c.2052C>T (p.Pro684=) rs921831751
NM_000528.4(MAN2B1):c.2053T>C (p.Leu685=) rs2512490120
NM_000528.4(MAN2B1):c.2058G>A (p.Val686=) rs2512490100
NM_000528.4(MAN2B1):c.2085T>C (p.Ala695=) rs2145233462
NM_000528.4(MAN2B1):c.2097G>A (p.Gln699=) rs140449678
NM_000528.4(MAN2B1):c.2107C>T (p.Leu703=) rs1469037105
NM_000528.4(MAN2B1):c.2109G>A (p.Leu703=) rs2145233361
NM_000528.4(MAN2B1):c.2109G>C (p.Leu703=) rs2145233361
NM_000528.4(MAN2B1):c.2112C>T (p.Tyr704=) rs2023808625
NM_000528.4(MAN2B1):c.2121G>A (p.Gln707=) rs2023808256
NM_000528.4(MAN2B1):c.2133G>A (p.Glu711=) rs2512489938
NM_000528.4(MAN2B1):c.2148G>A (p.Val716=) rs2023807461
NM_000528.4(MAN2B1):c.2154G>A (p.Pro718=) rs1239156445
NM_000528.4(MAN2B1):c.2154G>C (p.Pro718=) rs1239156445
NM_000528.4(MAN2B1):c.2160T>A (p.Pro720=) rs939754783
NM_000528.4(MAN2B1):c.2165+8G>A rs1318041798
NM_000528.4(MAN2B1):c.2166-10T>C rs2145232830
NM_000528.4(MAN2B1):c.2166-14C>T
NM_000528.4(MAN2B1):c.2166-8G>T rs774350579
NM_000528.4(MAN2B1):c.2169C>T (p.Asp723=) rs2145232751
NM_000528.4(MAN2B1):c.219T>C (p.Asp73=) rs2512517521
NM_000528.4(MAN2B1):c.2202C>T (p.Asp734=) rs2512489646
NM_000528.4(MAN2B1):c.2209C>T (p.Leu737=) rs2512489634
NM_000528.4(MAN2B1):c.2220G>A (p.Lys740=) rs1599341929
NM_000528.4(MAN2B1):c.222C>T (p.Asp74=) rs746702002
NM_000528.4(MAN2B1):c.2247C>T (p.Gly749=) rs762877000
NM_000528.4(MAN2B1):c.2248C>A (p.Arg750=) rs80338680
NM_000528.4(MAN2B1):c.2256C>T (p.Ile752=) rs2512489535
NM_000528.4(MAN2B1):c.2267+13T>A rs2512489479
NM_000528.4(MAN2B1):c.2267+13_2267+14del rs2512489476
NM_000528.4(MAN2B1):c.2267+8G>A
NM_000528.4(MAN2B1):c.2267+8G>T rs1599341786
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.2268-10C>T rs2145230110
NM_000528.4(MAN2B1):c.2268-13C>T rs1373452713
NM_000528.4(MAN2B1):c.2268-15C>G rs2512488531
NM_000528.4(MAN2B1):c.2268-20C>G rs900032876
NM_000528.4(MAN2B1):c.2268-4_2268-3dup rs2023783257
NM_000528.4(MAN2B1):c.2268-6C>T rs1011168725
NM_000528.4(MAN2B1):c.2268-7A>C rs1217502965
NM_000528.4(MAN2B1):c.2268-7A>T rs1217502965
NM_000528.4(MAN2B1):c.2268-8A>C rs2145230094
NM_000528.4(MAN2B1):c.2278C>A (p.Arg760=) rs121434331
NM_000528.4(MAN2B1):c.2286C>G (p.Thr762=) rs1329977611
NM_000528.4(MAN2B1):c.2295G>A (p.Leu765=) rs2023781774
NM_000528.4(MAN2B1):c.2310C>G (p.Pro770=) rs35880640
NM_000528.4(MAN2B1):c.2331A>G (p.Pro777=) rs2023780336
NM_000528.4(MAN2B1):c.2340C>T (p.Thr780=) rs767516712
NM_000528.4(MAN2B1):c.2355+10C>T rs2512488224
NM_000528.4(MAN2B1):c.2355+11C>T rs2512488221
NM_000528.4(MAN2B1):c.2355+12C>G rs748608740
NM_000528.4(MAN2B1):c.2355+12C>T rs748608740
NM_000528.4(MAN2B1):c.2355+13C>A
NM_000528.4(MAN2B1):c.2355+15T>A rs2512488208
NM_000528.4(MAN2B1):c.2355+16C>T rs2023778748
NM_000528.4(MAN2B1):c.2355+33C>T rs374660827
NM_000528.4(MAN2B1):c.2355+8_2355+10del rs2512488229
NM_000528.4(MAN2B1):c.2355+9C>G rs1293149729
NM_000528.4(MAN2B1):c.2355+9C>T rs1293149729
NM_000528.4(MAN2B1):c.2356-10C>A rs2512487989
NM_000528.4(MAN2B1):c.2356-18T>C
NM_000528.4(MAN2B1):c.2356-19_2356-18del rs2512488011
NM_000528.4(MAN2B1):c.2356-4C>A rs2145229013
NM_000528.4(MAN2B1):c.2356-5C>G rs2512487969
NM_000528.4(MAN2B1):c.2356-6T>G
NM_000528.4(MAN2B1):c.2376T>G (p.Thr792=) rs2512487916
NM_000528.4(MAN2B1):c.2380C>T (p.Leu794=) rs769324462
NM_000528.4(MAN2B1):c.2382G>A (p.Leu794=) rs2512487900
NM_000528.4(MAN2B1):c.2388C>T (p.Asp796=) rs2145228830
NM_000528.4(MAN2B1):c.2397G>A (p.Gln799=) rs1568298457
NM_000528.4(MAN2B1):c.2415A>G (p.Arg805=) rs2512487800
NM_000528.4(MAN2B1):c.2421C>G (p.Gly807=) rs2023773802
NM_000528.4(MAN2B1):c.2421C>T (p.Gly807=) rs2023773802
NM_000528.4(MAN2B1):c.2424G>C (p.Ser808=) rs762947868
NM_000528.4(MAN2B1):c.2436+12A>G rs2512487722
NM_000528.4(MAN2B1):c.2436+17C>A rs148420017
NM_000528.4(MAN2B1):c.2436+7G>C rs2145228476
NM_000528.4(MAN2B1):c.2436+8G>C rs1375276402
NM_000528.4(MAN2B1):c.2437-10C>G rs776013861
NM_000528.4(MAN2B1):c.2437-10C>T rs776013861
NM_000528.4(MAN2B1):c.2437-11T>A rs2512486893
NM_000528.4(MAN2B1):c.2437-19C>T rs2145226099
NM_000528.4(MAN2B1):c.2437-22_2437-3dup rs2512486868
NM_000528.4(MAN2B1):c.2437-4C>G rs772778684
NM_000528.4(MAN2B1):c.2437-4C>T rs772778684
NM_000528.4(MAN2B1):c.2437-5C>A rs200695002
NM_000528.4(MAN2B1):c.2437-5C>T rs200695002
NM_000528.4(MAN2B1):c.2437-7C>G rs1415976564
NM_000528.4(MAN2B1):c.2437-8C>A rs1599339769
NM_000528.4(MAN2B1):c.2437-8C>T rs1599339769
NM_000528.4(MAN2B1):c.2439G>T (p.Val813=) rs2512486856
NM_000528.4(MAN2B1):c.2448G>A (p.Arg816=) rs747744816
NM_000528.4(MAN2B1):c.2449C>T (p.Leu817=) rs1333446493
NM_000528.4(MAN2B1):c.2472A>T (p.Gly824=) rs2145225818
NM_000528.4(MAN2B1):c.2478G>T (p.Ser826=) rs958869615
NM_000528.4(MAN2B1):c.2496C>T (p.Asn832=)
NM_000528.4(MAN2B1):c.2502G>A (p.Ser834=) rs1244438379
NM_000528.4(MAN2B1):c.2505G>A (p.Gly835=) rs756475764
NM_000528.4(MAN2B1):c.2508G>A (p.Ala836=) rs1344703081
NM_000528.4(MAN2B1):c.2514G>A (p.Val838=) rs2512486693
NM_000528.4(MAN2B1):c.2529G>A (p.Leu843=) rs2145225369
NM_000528.4(MAN2B1):c.2529G>C (p.Leu843=) rs2145225369
NM_000528.4(MAN2B1):c.2533C>T (p.Leu845=) rs2023747886
NM_000528.4(MAN2B1):c.2535G>A (p.Leu845=) rs2145225332
NM_000528.4(MAN2B1):c.2541C>T (p.Asp847=) rs2145225321
NM_000528.4(MAN2B1):c.2559C>G (p.Ala853=) rs1231981026
NM_000528.4(MAN2B1):c.255T>C (p.Phe85=) rs2512517387
NM_000528.4(MAN2B1):c.2562C>T (p.Ala854=) rs10410289
NM_000528.4(MAN2B1):c.2569C>A (p.Arg857=) rs1210871670
NM_000528.4(MAN2B1):c.2571G>T (p.Arg857=) rs2145225130
NM_000528.4(MAN2B1):c.2574C>T (p.Leu858=) rs2512486559
NM_000528.4(MAN2B1):c.2580G>C (p.Ala860=) rs2145225071
NM_000528.4(MAN2B1):c.258T>C (p.Tyr86=) rs2145290474
NM_000528.4(MAN2B1):c.2592C>T (p.Val864=) rs2145224964
NM_000528.4(MAN2B1):c.2619G>C (p.Pro873=) rs372896479
NM_000528.4(MAN2B1):c.262+10G>A rs2024216791
NM_000528.4(MAN2B1):c.262+13T>C rs1250330037
NM_000528.4(MAN2B1):c.262+13T>G
NM_000528.4(MAN2B1):c.262+15G>T rs927731882
NM_000528.4(MAN2B1):c.262+16G>A rs1184948246
NM_000528.4(MAN2B1):c.262+19C>G rs1255559675
NM_000528.4(MAN2B1):c.263-10T>C rs1208363184
NM_000528.4(MAN2B1):c.263-15C>T rs2512516783
NM_000528.4(MAN2B1):c.263-18T>C rs2024212461
NM_000528.4(MAN2B1):c.263-20C>T rs1368351754
NM_000528.4(MAN2B1):c.263-4A>C rs1201157333
NM_000528.4(MAN2B1):c.263-4A>G rs1201157333
NM_000528.4(MAN2B1):c.2631C>T (p.Ala877=) rs2512486357
NM_000528.4(MAN2B1):c.2637C>T (p.Tyr879=) rs2023741724
NM_000528.4(MAN2B1):c.2643C>T (p.Leu881=) rs2023741346
NM_000528.4(MAN2B1):c.2655G>C (p.Pro885=) rs1046211352
NM_000528.4(MAN2B1):c.2655G>T (p.Pro885=) rs1046211352
NM_000528.4(MAN2B1):c.2658C>T (p.Arg886=) rs556554403
NM_000528.4(MAN2B1):c.2664+15G>A rs2512486230
NM_000528.4(MAN2B1):c.2664+20G>C rs2512486219
NM_000528.4(MAN2B1):c.2664+7G>C rs2512486256
NM_000528.4(MAN2B1):c.2664+8G>A rs2512486253
NM_000528.4(MAN2B1):c.2664+9C>T rs1485817124
NM_000528.4(MAN2B1):c.2665-11C>G rs1181757322
NM_000528.4(MAN2B1):c.2665-19C>G rs2023723908
NM_000528.4(MAN2B1):c.2665-19C>T rs2023723908
NM_000528.4(MAN2B1):c.2665-20C>G rs1230481600
NM_000528.4(MAN2B1):c.2665-20C>T rs1230481600
NM_000528.4(MAN2B1):c.2665-4G>A rs1461826298
NM_000528.4(MAN2B1):c.2665-5C>T rs1555706187
NM_000528.4(MAN2B1):c.2665-7C>T rs747424062
NM_000528.4(MAN2B1):c.2665-8T>C rs1392432705
NM_000528.4(MAN2B1):c.2674C>T (p.Leu892=) rs368951229
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2760G>A (p.Gln920=) rs2512484881
NM_000528.4(MAN2B1):c.2766C>A (p.Ala922=)
NM_000528.4(MAN2B1):c.2769A>G (p.Val923=) rs2145221414
NM_000528.4(MAN2B1):c.276C>A (p.Ile92=) rs1568308637
NM_000528.4(MAN2B1):c.2781C>T (p.Ser927=) rs976302366
NM_000528.4(MAN2B1):c.2782G>A (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2784A>C (p.Gly928=) rs2145221323
NM_000528.4(MAN2B1):c.2791C>T (p.Leu931=) rs2512484780
NM_000528.4(MAN2B1):c.2796C>T (p.Ser932=) rs1403072896
NM_000528.4(MAN2B1):c.2799C>T (p.Ala933=) rs2145221244
NM_000528.4(MAN2B1):c.2802C>G (p.Pro934=) rs772974771
NM_000528.4(MAN2B1):c.2802C>T (p.Pro934=) rs772974771
NM_000528.4(MAN2B1):c.2808C>G (p.Thr936=) rs2512484747
NM_000528.4(MAN2B1):c.2817G>A (p.Leu939=) rs2512484723
NM_000528.4(MAN2B1):c.2818A>C (p.Arg940=) rs2512484717
NM_000528.4(MAN2B1):c.2820+10G>A rs2145221057
NM_000528.4(MAN2B1):c.2820+14A>C
NM_000528.4(MAN2B1):c.2820+17T>G rs2512484677
NM_000528.4(MAN2B1):c.2820+20G>A rs2512484670
NM_000528.4(MAN2B1):c.2820+7A>C rs2512484701
NM_000528.4(MAN2B1):c.2820+7A>G rs2512484701
NM_000528.4(MAN2B1):c.2820+9G>C rs2512484690
NM_000528.4(MAN2B1):c.2821-13C>A rs765084966
NM_000528.4(MAN2B1):c.2821-20G>A rs2023713743
NM_000528.4(MAN2B1):c.2821-4G>A rs753776387
NM_000528.4(MAN2B1):c.2821-5C>G
NM_000528.4(MAN2B1):c.2821-7C>A rs2023713165
NM_000528.4(MAN2B1):c.2821-9T>C rs1230398007
NM_000528.4(MAN2B1):c.2826G>A (p.Leu942=) rs2145220574
NM_000528.4(MAN2B1):c.2835C>T (p.Thr945=) rs2512484511
NM_000528.4(MAN2B1):c.2841C>A (p.Thr947=) rs1599338014
NM_000528.4(MAN2B1):c.2844C>T (p.Ile948=) rs1274540268
NM_000528.4(MAN2B1):c.2847C>T (p.Thr949=) rs1325721956
NM_000528.4(MAN2B1):c.2850C>A (p.Arg950=) rs2145220436
NM_000528.4(MAN2B1):c.2850C>T (p.Arg950=) rs2145220436
NM_000528.4(MAN2B1):c.2853G>A (p.Leu951=) rs2145220425
NM_000528.4(MAN2B1):c.285C>G (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2862C>G (p.Thr954=) rs2145220382
NM_000528.4(MAN2B1):c.2862C>T (p.Thr954=) rs2145220382
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=) rs1376771729
NM_000528.4(MAN2B1):c.288T>A (p.Gly96=) rs2512516631
NM_000528.4(MAN2B1):c.2898C>T (p.Ser966=) rs2145220044
NM_000528.4(MAN2B1):c.2907G>A (p.Lys969=)
NM_000528.4(MAN2B1):c.2913A>G (p.Thr971=) rs2145219944
NM_000528.4(MAN2B1):c.2919C>T (p.Asn973=)
NM_000528.4(MAN2B1):c.2923+10T>G rs2512484240
NM_000528.4(MAN2B1):c.2923+12G>A rs2023708864
NM_000528.4(MAN2B1):c.2924-10A>G rs1204396930
NM_000528.4(MAN2B1):c.2924-11dup
NM_000528.4(MAN2B1):c.2924-16C>T rs2512483432
NM_000528.4(MAN2B1):c.2924-19T>G rs2512483442
NM_000528.4(MAN2B1):c.2924-4C>G rs767564979
NM_000528.4(MAN2B1):c.2924-4C>T rs767564979
NM_000528.4(MAN2B1):c.2924-5_2924-3del rs2512483391
NM_000528.4(MAN2B1):c.2924-6C>T rs2512483402
NM_000528.4(MAN2B1):c.2924-9C>T rs2512483412
NM_000528.4(MAN2B1):c.2934C>T (p.Pro978=) rs2023696927
NM_000528.4(MAN2B1):c.2952G>A (p.Gln984=) rs762355600
NM_000528.4(MAN2B1):c.2961G>T (p.Pro987=) rs369658144
NM_000528.4(MAN2B1):c.2964C>G (p.Ala988=) rs2145217649
NM_000528.4(MAN2B1):c.2974C>T (p.Leu992=) rs2512483237
NM_000528.4(MAN2B1):c.297C>T (p.Tyr99=) rs2512516577
NM_000528.4(MAN2B1):c.2982C>T (p.Pro994=) rs2512483204
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.2994C>T (p.Arg998=) rs2023694655
NM_000528.4(MAN2B1):c.3009A>G (p.Ser1003=) rs764545554
NM_000528.4(MAN2B1):c.300C>T (p.Ile100=) rs2512516568
NM_000528.4(MAN2B1):c.306C>T (p.Asp102=) rs2145289655
NM_000528.4(MAN2B1):c.309G>C (p.Ser103=) rs1175779934
NM_000528.4(MAN2B1):c.309G>T (p.Ser103=) rs1175779934
NM_000528.4(MAN2B1):c.312C>T (p.Val104=) rs2024209784
NM_000528.4(MAN2B1):c.325C>T (p.Leu109=) rs756417972
NM_000528.4(MAN2B1):c.333T>C (p.Asp111=) rs1381788581
NM_000528.4(MAN2B1):c.360G>A (p.Glu120=) rs2145289378
NM_000528.4(MAN2B1):c.366C>T (p.Ala122=) rs1258536041
NM_000528.4(MAN2B1):c.387C>T (p.His129=) rs2512516296
NM_000528.4(MAN2B1):c.418C>A (p.Arg140=) rs370803545
NM_000528.4(MAN2B1):c.426T>C (p.Leu142=) rs2512516132
NM_000528.4(MAN2B1):c.436+10C>T rs2512516070
NM_000528.4(MAN2B1):c.436+12C>G rs373250649
NM_000528.4(MAN2B1):c.436+13C>G rs2512516060
NM_000528.4(MAN2B1):c.436+20G>A rs2512516009
NM_000528.4(MAN2B1):c.436+20G>T rs2512516009
NM_000528.4(MAN2B1):c.437-11T>G rs766013491
NM_000528.4(MAN2B1):c.437-12G>A
NM_000528.4(MAN2B1):c.437-20C>T rs1186307645
NM_000528.4(MAN2B1):c.437-4A>G rs2512515068
NM_000528.4(MAN2B1):c.447G>A (p.Glu149=) rs2512515017
NM_000528.4(MAN2B1):c.468G>A (p.Val156=) rs746115085
NM_000528.4(MAN2B1):c.495C>T (p.Tyr165=) rs771479314
NM_000528.4(MAN2B1):c.504C>T (p.Ile168=) rs769374044
NM_000528.4(MAN2B1):c.525G>A (p.Gly175=) rs2145287109
NM_000528.4(MAN2B1):c.526C>T (p.Leu176=) rs750397298
NM_000528.4(MAN2B1):c.531C>A (p.Arg177=) rs2024190021
NM_000528.4(MAN2B1):c.543C>T (p.Asp181=) rs2512514716
NM_000528.4(MAN2B1):c.582C>T (p.His194=) rs1424705311
NM_000528.4(MAN2B1):c.609G>A (p.Glu203=) rs139290127
NM_000528.4(MAN2B1):c.619C>T (p.Leu207=) rs778300782
NM_000528.4(MAN2B1):c.624T>C (p.Phe208=) rs374524357
NM_000528.4(MAN2B1):c.627G>C (p.Ala209=) rs757793580
NM_000528.4(MAN2B1):c.630+10G>A rs1200800972
NM_000528.4(MAN2B1):c.630+12G>A rs368271384
NM_000528.4(MAN2B1):c.630+13A>T
NM_000528.4(MAN2B1):c.630+14C>T rs763833677
NM_000528.4(MAN2B1):c.630+7C>A rs1175845932
NM_000528.4(MAN2B1):c.630+9C>G rs756927782
NM_000528.4(MAN2B1):c.631-15C>T rs2512512622
NM_000528.4(MAN2B1):c.631-17T>G rs2145283422
NM_000528.4(MAN2B1):c.631-4C>G rs2145283382
NM_000528.4(MAN2B1):c.631-4C>T rs2145283382
NM_000528.4(MAN2B1):c.631-4_631-3del rs781749057
NM_000528.4(MAN2B1):c.631-6C>A rs2512512609
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.660C>T (p.Arg220=) rs2145283213
NM_000528.4(MAN2B1):c.666T>C (p.Asp222=) rs754983892
NM_000528.4(MAN2B1):c.687G>A (p.Arg229=) rs1599357346
NM_000528.4(MAN2B1):c.697C>T (p.Leu233=) rs2512512388
NM_000528.4(MAN2B1):c.708G>A (p.Glu236=) rs2024164599
NM_000528.4(MAN2B1):c.729C>T (p.Thr243=) rs2145282936
NM_000528.4(MAN2B1):c.750G>C (p.Ala250=)
NM_000528.4(MAN2B1):c.763+12G>C rs2512512150
NM_000528.4(MAN2B1):c.763+7G>A
NM_000528.4(MAN2B1):c.763+9C>A rs1266555392
NM_000528.4(MAN2B1):c.764-16T>C rs2512511609
NM_000528.4(MAN2B1):c.764-5T>G rs2512511578
NM_000528.4(MAN2B1):c.764-6C>T rs2512511581
NM_000528.4(MAN2B1):c.764-7C>T rs2024156476
NM_000528.4(MAN2B1):c.783C>T (p.Tyr261=) rs2024155693
NM_000528.4(MAN2B1):c.792A>C (p.Pro264=) rs2145281669
NM_000528.4(MAN2B1):c.801G>A (p.Leu267=) rs2512511465
NM_000528.4(MAN2B1):c.804C>T (p.Cys268=) rs2512511453
NM_000528.4(MAN2B1):c.816G>A (p.Leu272=) rs1403301065
NM_000528.4(MAN2B1):c.831_832delinsAG (p.Leu278Val) rs2512511372
NM_000528.4(MAN2B1):c.852C>T (p.Ser284=) rs2512511304
NM_000528.4(MAN2B1):c.855C>G (p.Pro285=) rs139218045
NM_000528.4(MAN2B1):c.861C>T (p.Tyr287=) rs1280139624
NM_000528.4(MAN2B1):c.867C>T (p.Ala289=) rs2145281259
NM_000528.4(MAN2B1):c.879C>A (p.Val293=) rs746756800
NM_000528.4(MAN2B1):c.885C>T (p.Tyr295=) rs2512511211
NM_000528.4(MAN2B1):c.888C>T (p.Phe296=) rs1599356803
NM_000528.4(MAN2B1):c.909+10del rs1568306887
NM_000528.4(MAN2B1):c.909+12G>A rs2512511117
NM_000528.4(MAN2B1):c.910-10T>C rs2145273578
NM_000528.4(MAN2B1):c.910-10T>G rs2145273578
NM_000528.4(MAN2B1):c.910-13C>G rs777879138
NM_000528.4(MAN2B1):c.910-13C>T rs777879138
NM_000528.4(MAN2B1):c.910-14C>T rs2512508387
NM_000528.4(MAN2B1):c.910-15C>A rs2024102639
NM_000528.4(MAN2B1):c.910-15C>G rs2024102639
NM_000528.4(MAN2B1):c.910-16C>A
NM_000528.4(MAN2B1):c.910-4G>T rs1384001200
NM_000528.4(MAN2B1):c.910-5T>C
NM_000528.4(MAN2B1):c.910-6C>T rs2512508353
NM_000528.4(MAN2B1):c.910-7C>T rs2145273567
NM_000528.4(MAN2B1):c.910-8G>C rs2145273572
NM_000528.4(MAN2B1):c.924C>A (p.Arg308=) rs1168829518
NM_000528.4(MAN2B1):c.924C>T (p.Arg308=) rs1168829518
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.939G>T (p.Val313=) rs942342696
NM_000528.4(MAN2B1):c.951C>T (p.Gly317=) rs2512508161
NM_000528.4(MAN2B1):c.963A>G (p.Gln321=)
NM_000528.4(MAN2B1):c.975C>T (p.Ala325=) rs2512508084
NM_000528.4(MAN2B1):c.993C>T (p.Asn331=) rs2145272833
NM_000528.4(MAN2B1):c.99G>C (p.Pro33=) rs1485339125

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