ClinVar Miner

List of variants reported as likely benign for Deficiency of alpha-mannosidase by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 874
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00296
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp) rs139290127 0.00175
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
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.1521G>T (p.Ala507=) rs143318498 0.00077
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846 0.00075
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=) rs141077530 0.00074
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp) rs148080695 0.00038
NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=) rs149897798 0.00033
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser) rs141276889 0.00030
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu) rs199967717 0.00029
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479 0.00026
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr) rs747538432 0.00020
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488 0.00018
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=) rs150866794 0.00018
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.2966A>G (p.Asn989Ser) rs753397171 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436 0.00014
NM_000528.4(MAN2B1):c.1027-4G>A rs368900863 0.00012
NM_000528.4(MAN2B1):c.1645-14C>T rs369999433 0.00011
NM_000528.4(MAN2B1):c.2658C>G (p.Arg886=) rs556554403 0.00011
NM_000528.4(MAN2B1):c.2040G>A (p.Leu680=) rs147342488 0.00010
NM_000528.4(MAN2B1):c.2166-18C>T rs368669177 0.00010
NM_000528.4(MAN2B1):c.126G>C (p.Leu42=) rs900625808 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.2020C>T (p.Arg674Cys) rs770791374 0.00008
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=) rs763786776 0.00008
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val) rs751849414 0.00008
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984 0.00008
NM_000528.4(MAN2B1):c.1419+11C>A rs375081677 0.00007
NM_000528.4(MAN2B1):c.2047-12G>A rs769284524 0.00007
NM_000528.4(MAN2B1):c.1309+17A>C rs762485011 0.00006
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.2607G>T (p.Val869=) rs755344489 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000528.4(MAN2B1):c.642C>T (p.Asp214=) rs755806804 0.00006
NM_000528.4(MAN2B1):c.160-12G>A rs775808824 0.00005
NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile) rs181476648 0.00005
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535 0.00005
NM_000528.4(MAN2B1):c.1026+9G>A rs762829719 0.00004
NM_000528.4(MAN2B1):c.1110-7G>A rs578109865 0.00004
NM_000528.4(MAN2B1):c.1231-16A>G rs757582067 0.00004
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154 0.00004
NM_000528.4(MAN2B1):c.1506G>A (p.Pro502=) rs1167317443 0.00004
NM_000528.4(MAN2B1):c.1755C>G (p.Arg585=) rs759033353 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.2047-4G>A rs768347546 0.00004
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566 0.00004
NM_000528.4(MAN2B1):c.263-12T>C rs1444171046 0.00004
NM_000528.4(MAN2B1):c.263-7T>C rs756239857 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.1677G>A (p.Ala559=) rs762375401 0.00003
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=) rs146778702 0.00003
NM_000528.4(MAN2B1):c.1818C>T (p.Thr606=) rs746035776 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.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.840G>A (p.Glu280=) rs764312812 0.00003
NM_000528.4(MAN2B1):c.921C>T (p.Tyr307=) rs35087690 0.00003
NM_000528.4(MAN2B1):c.1109+10G>A rs779635675 0.00002
NM_000528.4(MAN2B1):c.1125C>T (p.Asp375=) rs146715588 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+9G>A rs764391534 0.00002
NM_000528.4(MAN2B1):c.1980C>T (p.Tyr660=) rs564693678 0.00002
NM_000528.4(MAN2B1):c.2166C>T (p.Gly722=) rs770976179 0.00002
NM_000528.4(MAN2B1):c.2267+9T>C rs750833439 0.00002
NM_000528.4(MAN2B1):c.2304G>A (p.Thr768=) rs749978005 0.00002
NM_000528.4(MAN2B1):c.2349C>T (p.Tyr783=) rs948101708 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.2469C>T (p.Arg823=) rs561895292 0.00002
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=) rs1406149211 0.00002
NM_000528.4(MAN2B1):c.2655G>A (p.Pro885=) rs1046211352 0.00002
NM_000528.4(MAN2B1):c.2821-5C>T rs761870446 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.763+9C>T rs1266555392 0.00002
NM_000528.4(MAN2B1):c.876G>A (p.Leu292=) rs768458196 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.1008C>A (p.Ile336=) rs781438438 0.00001
NM_000528.4(MAN2B1):c.1020T>C (p.Asn340=) rs1389459819 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.1044T>C (p.Ser348=) rs765139571 0.00001
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=) rs746182835 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.1290C>T (p.Ser430=) rs757526946 0.00001
NM_000528.4(MAN2B1):c.1309+10G>A rs1424931652 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.1419+12G>A rs755497429 0.00001
NM_000528.4(MAN2B1):c.1419+7G>C rs1235244356 0.00001
NM_000528.4(MAN2B1):c.1419+8G>A rs1427796893 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+7C>T rs1214746235 0.00001
NM_000528.4(MAN2B1):c.1528-10G>A rs561164635 0.00001
NM_000528.4(MAN2B1):c.1578A>T (p.Val526=) rs768096085 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.160-5T>C rs902325469 0.00001
NM_000528.4(MAN2B1):c.162A>G (p.Thr54=) rs1441130613 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.1708C>T (p.Leu570=) rs150479159 0.00001
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586 0.00001
NM_000528.4(MAN2B1):c.1782G>A (p.Gln594=) rs573996230 0.00001
NM_000528.4(MAN2B1):c.180G>A (p.Pro60=) rs1043541354 0.00001
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His) rs775247526 0.00001
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=) rs547133035 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+16T>G rs747744607 0.00001
NM_000528.4(MAN2B1):c.2151G>A (p.Gly717=) rs746606611 0.00001
NM_000528.4(MAN2B1):c.2165+8G>A rs1318041798 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.2265G>A (p.Arg755=) rs1177894927 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.240C>T (p.Thr80=) rs772053358 0.00001
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00001
NM_000528.4(MAN2B1):c.2437-6C>T rs1021381108 0.00001
NM_000528.4(MAN2B1):c.2478G>A (p.Ser826=) rs958869615 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.2583G>A (p.Glu861=) rs778022209 0.00001
NM_000528.4(MAN2B1):c.2616C>T (p.Ala872=) rs1211391418 0.00001
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=) rs545541738 0.00001
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=) rs775212002 0.00001
NM_000528.4(MAN2B1):c.2664+16G>A rs1272824272 0.00001
NM_000528.4(MAN2B1):c.2676G>A (p.Leu892=) rs750952284 0.00001
NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=) rs773210333 0.00001
NM_000528.4(MAN2B1):c.27G>C (p.Gly9=) rs1428387159 0.00001
NM_000528.4(MAN2B1):c.2821-19C>T rs1187808331 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.2961G>A (p.Pro987=) rs369658144 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.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.436+7C>T rs769700077 0.00001
NM_000528.4(MAN2B1):c.437-8T>C rs377203049 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.51C>T (p.Asp17=) rs747792561 0.00001
NM_000528.4(MAN2B1):c.591C>T (p.Pro197=) rs753665587 0.00001
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797 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.631-9C>T rs756874617 0.00001
NM_000528.4(MAN2B1):c.75C>G (p.Ser25=) rs1178249579 0.00001
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487 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.855C>T (p.Pro285=) rs139218045 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.915G>T (p.Arg305=) rs755994517 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.96C>T (p.Leu32=) rs1253976874 0.00001
NM_000528.4(MAN2B1):c.1005C>T (p.Leu335=)
NM_000528.4(MAN2B1):c.1012C>T (p.Leu338=)
NM_000528.4(MAN2B1):c.1023G>A (p.Ala341=) rs755616565
NM_000528.4(MAN2B1):c.1026+10C>T
NM_000528.4(MAN2B1):c.1026+13A>C
NM_000528.4(MAN2B1):c.1026+14C>T
NM_000528.4(MAN2B1):c.1026+15C>A
NM_000528.4(MAN2B1):c.1026+17T>C
NM_000528.4(MAN2B1):c.1026+20G>A
NM_000528.4(MAN2B1):c.1027-12C>G rs762668361
NM_000528.4(MAN2B1):c.1027-14G>A
NM_000528.4(MAN2B1):c.1027-15C>T
NM_000528.4(MAN2B1):c.1027-17G>A
NM_000528.4(MAN2B1):c.1027-18C>A
NM_000528.4(MAN2B1):c.1027-18C>G
NM_000528.4(MAN2B1):c.1027-18C>T
NM_000528.4(MAN2B1):c.1027-19C>G
NM_000528.4(MAN2B1):c.1027-20T>C rs754654189
NM_000528.4(MAN2B1):c.1027-6C>T
NM_000528.4(MAN2B1):c.1027-7C>T rs1454372793
NM_000528.4(MAN2B1):c.1027-9C>T
NM_000528.4(MAN2B1):c.1032A>G (p.Ala344=) rs1386894008
NM_000528.4(MAN2B1):c.1035A>G (p.Lys345=)
NM_000528.4(MAN2B1):c.1047C>T (p.Val349=)
NM_000528.4(MAN2B1):c.1059C>T (p.Tyr353=) rs200323310
NM_000528.4(MAN2B1):c.105C>G (p.Leu35=)
NM_000528.4(MAN2B1):c.1062C>T (p.Ser354=) rs2145262172
NM_000528.4(MAN2B1):c.1065C>G (p.Thr355=)
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=)
NM_000528.4(MAN2B1):c.1104C>A (p.Leu368=) rs372217078
NM_000528.4(MAN2B1):c.1104C>G (p.Leu368=)
NM_000528.4(MAN2B1):c.1104C>T (p.Leu368=)
NM_000528.4(MAN2B1):c.1109+13A>C
NM_000528.4(MAN2B1):c.1109+20A>T
NM_000528.4(MAN2B1):c.1109+8G>T
NM_000528.4(MAN2B1):c.1110-10G>A
NM_000528.4(MAN2B1):c.1110-13C>A
NM_000528.4(MAN2B1):c.1110-17T>C
NM_000528.4(MAN2B1):c.1110-17dup
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
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=)
NM_000528.4(MAN2B1):c.114C>T (p.Phe38=) rs2024251453
NM_000528.4(MAN2B1):c.1155C>T (p.His385=) rs2145261164
NM_000528.4(MAN2B1):c.1167C>G (p.Thr389=)
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1188G>C (p.Pro396=) rs749011134
NM_000528.4(MAN2B1):c.1203C>T (p.Tyr401=)
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=)
NM_000528.4(MAN2B1):c.1230+13C>T
NM_000528.4(MAN2B1):c.1230+14G>A
NM_000528.4(MAN2B1):c.1230+14G>C
NM_000528.4(MAN2B1):c.1230+14G>T
NM_000528.4(MAN2B1):c.1230+15G>A rs2024019027
NM_000528.4(MAN2B1):c.1230+16G>A
NM_000528.4(MAN2B1):c.1230+17C>T
NM_000528.4(MAN2B1):c.1230+20G>A
NM_000528.4(MAN2B1):c.1230+20G>C
NM_000528.4(MAN2B1):c.1230+7A>G rs2024019411
NM_000528.4(MAN2B1):c.1231-13C>A
NM_000528.4(MAN2B1):c.1231-13C>G
NM_000528.4(MAN2B1):c.1231-17T>A
NM_000528.4(MAN2B1):c.1231-5T>A rs1419185296
NM_000528.4(MAN2B1):c.1231-5T>C
NM_000528.4(MAN2B1):c.1231-5_1231-4dup rs2145260260
NM_000528.4(MAN2B1):c.1231-6C>T
NM_000528.4(MAN2B1):c.1231-7C>T rs2145260291
NM_000528.4(MAN2B1):c.1248G>A (p.Glu416=)
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=)
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.1287C>T (p.Gly429=)
NM_000528.4(MAN2B1):c.1302A>C (p.Ala434=) rs2145259880
NM_000528.4(MAN2B1):c.1309+11G>T
NM_000528.4(MAN2B1):c.1309+14C>G
NM_000528.4(MAN2B1):c.1309+18G>C
NM_000528.4(MAN2B1):c.1309+7G>A rs2145259814
NM_000528.4(MAN2B1):c.1309+7G>T
NM_000528.4(MAN2B1):c.1309+7del
NM_000528.4(MAN2B1):c.1309+8T>G
NM_000528.4(MAN2B1):c.1310-12G>C
NM_000528.4(MAN2B1):c.1310-14T>C
NM_000528.4(MAN2B1):c.1310-16C>A
NM_000528.4(MAN2B1):c.1310-4G>A
NM_000528.4(MAN2B1):c.1310-7T>C rs2145257269
NM_000528.4(MAN2B1):c.1310-8A>G
NM_000528.4(MAN2B1):c.1323T>C (p.Ala441=)
NM_000528.4(MAN2B1):c.1335T>C (p.His445=)
NM_000528.4(MAN2B1):c.1350C>T (p.Ser450=)
NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=) rs1160056496
NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=)
NM_000528.4(MAN2B1):c.135C>G (p.Ala45=) rs200413076
NM_000528.4(MAN2B1):c.1362C>T (p.Arg454=) rs2145256884
NM_000528.4(MAN2B1):c.1371G>A (p.Val457=) rs1160690876
NM_000528.4(MAN2B1):c.1377C>T (p.Asn459=)
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=)
NM_000528.4(MAN2B1):c.1386G>C (p.Ala462=) rs1485268011
NM_000528.4(MAN2B1):c.1386G>T (p.Ala462=) rs1485268011
NM_000528.4(MAN2B1):c.1389C>T (p.Arg463=)
NM_000528.4(MAN2B1):c.1395T>C (p.Leu465=)
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1398G>C (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1401A>T (p.Ala467=)
NM_000528.4(MAN2B1):c.1410G>A (p.Gly470=)
NM_000528.4(MAN2B1):c.1410G>C (p.Gly470=) rs1382087193
NM_000528.4(MAN2B1):c.1410G>T (p.Gly470=)
NM_000528.4(MAN2B1):c.1419+13A>G
NM_000528.4(MAN2B1):c.1419+16C>T
NM_000528.4(MAN2B1):c.1419+20G>A
NM_000528.4(MAN2B1):c.1419+7G>A
NM_000528.4(MAN2B1):c.141T>C (p.Ala47=)
NM_000528.4(MAN2B1):c.1420-12G>T
NM_000528.4(MAN2B1):c.1420-13C>T
NM_000528.4(MAN2B1):c.1420-14G>A
NM_000528.4(MAN2B1):c.1420-14G>C
NM_000528.4(MAN2B1):c.1420-14G>T
NM_000528.4(MAN2B1):c.1420-19C>T
NM_000528.4(MAN2B1):c.1420-4G>A
NM_000528.4(MAN2B1):c.1420-4G>T rs903942990
NM_000528.4(MAN2B1):c.1420-5C>T
NM_000528.4(MAN2B1):c.1420-5del
NM_000528.4(MAN2B1):c.1420-9C>T
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=)
NM_000528.4(MAN2B1):c.1446G>C (p.Arg482=)
NM_000528.4(MAN2B1):c.1455C>T (p.Gly485=)
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.1485G>A (p.Gln495=)
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=)
NM_000528.4(MAN2B1):c.1521G>A (p.Ala507=)
NM_000528.4(MAN2B1):c.1524G>A (p.Ala508=)
NM_000528.4(MAN2B1):c.1527+10G>A
NM_000528.4(MAN2B1):c.1527+12C>G
NM_000528.4(MAN2B1):c.1527+13G>A
NM_000528.4(MAN2B1):c.1527+13G>T
NM_000528.4(MAN2B1):c.1527+20G>A
NM_000528.4(MAN2B1):c.1527+20G>T
NM_000528.4(MAN2B1):c.1527+8G>A
NM_000528.4(MAN2B1):c.1527+8G>C rs1216647114
NM_000528.4(MAN2B1):c.1528-11C>T
NM_000528.4(MAN2B1):c.1528-12C>A
NM_000528.4(MAN2B1):c.1528-13C>T
NM_000528.4(MAN2B1):c.1528-14C>G
NM_000528.4(MAN2B1):c.1528-17G>C
NM_000528.4(MAN2B1):c.1528-19C>A
NM_000528.4(MAN2B1):c.1528-5C>T rs1177088769
NM_000528.4(MAN2B1):c.1539C>A (p.Ile513=) rs1277779220
NM_000528.4(MAN2B1):c.1539C>T (p.Ile513=)
NM_000528.4(MAN2B1):c.153A>T (p.Gly51=)
NM_000528.4(MAN2B1):c.1548T>C (p.Asn516=)
NM_000528.4(MAN2B1):c.1551C>T (p.Pro517=)
NM_000528.4(MAN2B1):c.1552C>T (p.Leu518=)
NM_000528.4(MAN2B1):c.1584G>C (p.Leu528=)
NM_000528.4(MAN2B1):c.1584G>T (p.Leu528=)
NM_000528.4(MAN2B1):c.1587G>A (p.Pro529=)
NM_000528.4(MAN2B1):c.159+10G>A
NM_000528.4(MAN2B1):c.159+12C>T
NM_000528.4(MAN2B1):c.159+15C>G
NM_000528.4(MAN2B1):c.159+15C>T
NM_000528.4(MAN2B1):c.159+16G>C
NM_000528.4(MAN2B1):c.159+7G>A rs2145293824
NM_000528.4(MAN2B1):c.159+9G>C rs764391534
NM_000528.4(MAN2B1):c.15G>A (p.Ala5=)
NM_000528.4(MAN2B1):c.15G>C (p.Ala5=)
NM_000528.4(MAN2B1):c.160-17T>C
NM_000528.4(MAN2B1):c.160-19G>A
NM_000528.4(MAN2B1):c.160-6G>A
NM_000528.4(MAN2B1):c.160-7T>C
NM_000528.4(MAN2B1):c.1605C>T (p.Phe535=) rs1421304561
NM_000528.4(MAN2B1):c.1623T>C (p.Asn541=)
NM_000528.4(MAN2B1):c.1632A>G (p.Thr544=)
NM_000528.4(MAN2B1):c.1638C>T (p.Pro546=)
NM_000528.4(MAN2B1):c.1641C>T (p.Ser547=) rs1295503998
NM_000528.4(MAN2B1):c.1644+12_1644+18dup
NM_000528.4(MAN2B1):c.1644+13_1644+15del
NM_000528.4(MAN2B1):c.1644+15C>T
NM_000528.4(MAN2B1):c.1644+16G>A
NM_000528.4(MAN2B1):c.1644+16G>C
NM_000528.4(MAN2B1):c.1644+18A>G
NM_000528.4(MAN2B1):c.1645-11C>T
NM_000528.4(MAN2B1):c.1645-12C>G
NM_000528.4(MAN2B1):c.1645-16T>C
NM_000528.4(MAN2B1):c.1645-18CCT[2] rs2023943075
NM_000528.4(MAN2B1):c.1645-19C>T
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=)
NM_000528.4(MAN2B1):c.1671C>T (p.Ser557=)
NM_000528.4(MAN2B1):c.1674G>A (p.Gln558=)
NM_000528.4(MAN2B1):c.168C>T (p.Pro56=)
NM_000528.4(MAN2B1):c.1695G>C (p.Leu565=)
NM_000528.4(MAN2B1):c.16C>A (p.Arg6=) rs2024256322
NM_000528.4(MAN2B1):c.1701A>G (p.Ser567=)
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.1716C>T (p.Ala572=) rs2023940192
NM_000528.4(MAN2B1):c.1717C>T (p.Leu573=) rs1183097697
NM_000528.4(MAN2B1):c.1719G>T (p.Leu573=)
NM_000528.4(MAN2B1):c.1725C>T (p.Phe575=) rs750784245
NM_000528.4(MAN2B1):c.1734T>C (p.Tyr578=)
NM_000528.4(MAN2B1):c.1740A>G (p.Val580=) rs757635212
NM_000528.4(MAN2B1):c.1770C>T (p.Ala590=)
NM_000528.4(MAN2B1):c.1772G>A (p.Arg591His)
NM_000528.4(MAN2B1):c.1773C>T (p.Arg591=) rs987054644
NM_000528.4(MAN2B1):c.1788C>A (p.Ile596=) rs969379236
NM_000528.4(MAN2B1):c.1788C>T (p.Ile596=)
NM_000528.4(MAN2B1):c.1792A>C (p.Arg598=) rs1214640045
NM_000528.4(MAN2B1):c.1806C>G (p.Ser602=)
NM_000528.4(MAN2B1):c.1821C>T (p.Ile607=) rs2023936980
NM_000528.4(MAN2B1):c.1824A>G (p.Glu608=)
NM_000528.4(MAN2B1):c.1830+10C>T rs2145249971
NM_000528.4(MAN2B1):c.1830+20C>T
NM_000528.4(MAN2B1):c.1830+7C>T rs2145249984
NM_000528.4(MAN2B1):c.1830+8C>G
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
NM_000528.4(MAN2B1):c.1831-17G>A
NM_000528.4(MAN2B1):c.1831-19T>A
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=)
NM_000528.4(MAN2B1):c.1839G>A (p.Arg613=)
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=)
NM_000528.4(MAN2B1):c.1869G>A (p.Leu623=)
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.18G>C (p.Arg6=)
NM_000528.4(MAN2B1):c.1902G>A (p.Leu634=) rs2145240022
NM_000528.4(MAN2B1):c.1903C>T (p.Leu635=)
NM_000528.4(MAN2B1):c.1908T>G (p.Pro636=) rs2145239992
NM_000528.4(MAN2B1):c.1923C>T (p.Phe641=)
NM_000528.4(MAN2B1):c.1926C>T (p.Phe642=) rs2145239886
NM_000528.4(MAN2B1):c.1928+13C>T
NM_000528.4(MAN2B1):c.1928+14A>C
NM_000528.4(MAN2B1):c.1928+17A>G
NM_000528.4(MAN2B1):c.1928+7G>A
NM_000528.4(MAN2B1):c.1929-11C>T
NM_000528.4(MAN2B1):c.1929-16C>A
NM_000528.4(MAN2B1):c.1929-19T>C
NM_000528.4(MAN2B1):c.1929-19_1929-18del rs754980913
NM_000528.4(MAN2B1):c.1929-4C>G
NM_000528.4(MAN2B1):c.1929-7A>C
NM_000528.4(MAN2B1):c.1929-7A>T
NM_000528.4(MAN2B1):c.192C>T (p.Asn64=)
NM_000528.4(MAN2B1):c.1932C>T (p.Tyr644=) rs2145239589
NM_000528.4(MAN2B1):c.1950C>T (p.Asp650=)
NM_000528.4(MAN2B1):c.1959T>C (p.Ser653=) rs1399579935
NM_000528.4(MAN2B1):c.195G>T (p.Val65=)
NM_000528.4(MAN2B1):c.1971A>C (p.Ser657=)
NM_000528.4(MAN2B1):c.1974T>C (p.Gly658=)
NM_000528.4(MAN2B1):c.2004A>G (p.Lys668=) rs750566481
NM_000528.4(MAN2B1):c.2007G>T (p.Pro669=)
NM_000528.4(MAN2B1):c.2008C>T (p.Leu670=) rs2145239106
NM_000528.4(MAN2B1):c.2010G>A (p.Leu670=)
NM_000528.4(MAN2B1):c.2046+12G>A
NM_000528.4(MAN2B1):c.2047-12G>C
NM_000528.4(MAN2B1):c.2047-14C>A
NM_000528.4(MAN2B1):c.2047-14C>G
NM_000528.4(MAN2B1):c.2047-14C>T
NM_000528.4(MAN2B1):c.2047-15C>A
NM_000528.4(MAN2B1):c.2047-15C>T
NM_000528.4(MAN2B1):c.2047-17C>T
NM_000528.4(MAN2B1):c.2047-19C>T
NM_000528.4(MAN2B1):c.2047-6C>T
NM_000528.4(MAN2B1):c.2047-7C>T
NM_000528.4(MAN2B1):c.2052C>G (p.Pro684=)
NM_000528.4(MAN2B1):c.2052C>T (p.Pro684=) rs921831751
NM_000528.4(MAN2B1):c.2053T>C (p.Leu685=)
NM_000528.4(MAN2B1):c.2058G>A (p.Val686=)
NM_000528.4(MAN2B1):c.205C>G (p.Pro69Ala)
NM_000528.4(MAN2B1):c.2076C>T (p.Asn692=)
NM_000528.4(MAN2B1):c.2085T>C (p.Ala695=) rs2145233462
NM_000528.4(MAN2B1):c.2097G>A (p.Gln699=)
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=)
NM_000528.4(MAN2B1):c.2112C>T (p.Tyr704=) rs2023808625
NM_000528.4(MAN2B1):c.2121G>A (p.Gln707=)
NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp)
NM_000528.4(MAN2B1):c.2133G>A (p.Glu711=)
NM_000528.4(MAN2B1):c.2148G>A (p.Val716=)
NM_000528.4(MAN2B1):c.2154G>A (p.Pro718=)
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+20A>G
NM_000528.4(MAN2B1):c.2166-10T>C rs2145232830
NM_000528.4(MAN2B1):c.2166-8G>T
NM_000528.4(MAN2B1):c.2169C>T (p.Asp723=) rs2145232751
NM_000528.4(MAN2B1):c.219T>C (p.Asp73=)
NM_000528.4(MAN2B1):c.2202C>T (p.Asp734=)
NM_000528.4(MAN2B1):c.2209C>T (p.Leu737=)
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.2250G>A (p.Arg750=) rs2145232390
NM_000528.4(MAN2B1):c.2256C>T (p.Ile752=)
NM_000528.4(MAN2B1):c.2267+11A>G
NM_000528.4(MAN2B1):c.2267+13T>A
NM_000528.4(MAN2B1):c.2267+13_2267+14del
NM_000528.4(MAN2B1):c.2267+17A>C
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
NM_000528.4(MAN2B1):c.2268-15C>G
NM_000528.4(MAN2B1):c.2268-20C>G
NM_000528.4(MAN2B1):c.2268-4_2268-3dup rs2023783257
NM_000528.4(MAN2B1):c.2268-6C>T
NM_000528.4(MAN2B1):c.2268-7A>C
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=)
NM_000528.4(MAN2B1):c.2286C>G (p.Thr762=) rs1329977611
NM_000528.4(MAN2B1):c.2295G>A (p.Leu765=)
NM_000528.4(MAN2B1):c.2310C>G (p.Pro770=)
NM_000528.4(MAN2B1):c.2331A>G (p.Pro777=)
NM_000528.4(MAN2B1):c.2340C>T (p.Thr780=)
NM_000528.4(MAN2B1):c.2355+10C>T
NM_000528.4(MAN2B1):c.2355+11C>T
NM_000528.4(MAN2B1):c.2355+12C>G
NM_000528.4(MAN2B1):c.2355+12C>T rs748608740
NM_000528.4(MAN2B1):c.2355+13C>G
NM_000528.4(MAN2B1):c.2355+15T>A
NM_000528.4(MAN2B1):c.2355+16C>T
NM_000528.4(MAN2B1):c.2355+8_2355+10del
NM_000528.4(MAN2B1):c.2355+9C>G rs1293149729
NM_000528.4(MAN2B1):c.2355+9C>T
NM_000528.4(MAN2B1):c.2356-10C>A
NM_000528.4(MAN2B1):c.2356-14C>T
NM_000528.4(MAN2B1):c.2356-15C>T
NM_000528.4(MAN2B1):c.2356-17C>G
NM_000528.4(MAN2B1):c.2356-19_2356-18del
NM_000528.4(MAN2B1):c.2356-4C>A rs2145229013
NM_000528.4(MAN2B1):c.2356-5C>G
NM_000528.4(MAN2B1):c.2361A>G (p.Gly787=)
NM_000528.4(MAN2B1):c.2376T>G (p.Thr792=)
NM_000528.4(MAN2B1):c.2380C>T (p.Leu794=)
NM_000528.4(MAN2B1):c.2382G>A (p.Leu794=)
NM_000528.4(MAN2B1):c.2388C>T (p.Asp796=) rs2145228830
NM_000528.4(MAN2B1):c.2397G>A (p.Gln799=)
NM_000528.4(MAN2B1):c.2415A>G (p.Arg805=)
NM_000528.4(MAN2B1):c.2421C>G (p.Gly807=) rs2023773802
NM_000528.4(MAN2B1):c.2421C>T (p.Gly807=)
NM_000528.4(MAN2B1):c.2424G>C (p.Ser808=) rs762947868
NM_000528.4(MAN2B1):c.2436+12A>G
NM_000528.4(MAN2B1):c.2436+17C>A
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
NM_000528.4(MAN2B1):c.2437-10C>T rs776013861
NM_000528.4(MAN2B1):c.2437-11T>A
NM_000528.4(MAN2B1):c.2437-12C>T
NM_000528.4(MAN2B1):c.2437-19C>T rs2145226099
NM_000528.4(MAN2B1):c.2437-20C>T
NM_000528.4(MAN2B1):c.2437-22_2437-3dup
NM_000528.4(MAN2B1):c.2437-4C>G rs772778684
NM_000528.4(MAN2B1):c.2437-4C>T
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
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=)
NM_000528.4(MAN2B1):c.2448G>A (p.Arg816=)
NM_000528.4(MAN2B1):c.2449C>T (p.Leu817=) rs1333446493
NM_000528.4(MAN2B1):c.2452C>T (p.Leu818=)
NM_000528.4(MAN2B1):c.2472A>T (p.Gly824=) rs2145225818
NM_000528.4(MAN2B1):c.2478G>T (p.Ser826=)
NM_000528.4(MAN2B1):c.2487A>C (p.Leu829=)
NM_000528.4(MAN2B1):c.24G>C (p.Ser8=) rs2145294761
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=)
NM_000528.4(MAN2B1):c.2529G>A (p.Leu843=) rs2145225369
NM_000528.4(MAN2B1):c.2529G>C (p.Leu843=)
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.2559C>T (p.Ala853=) rs1231981026
NM_000528.4(MAN2B1):c.255T>C (p.Phe85=)
NM_000528.4(MAN2B1):c.2562C>T (p.Ala854=) rs10410289
NM_000528.4(MAN2B1):c.2569C>A (p.Arg857=)
NM_000528.4(MAN2B1):c.2571G>T (p.Arg857=) rs2145225130
NM_000528.4(MAN2B1):c.2574C>T (p.Leu858=)
NM_000528.4(MAN2B1):c.2577G>A (p.Leu859=)
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+11G>A
NM_000528.4(MAN2B1):c.262+13T>C
NM_000528.4(MAN2B1):c.262+15G>T
NM_000528.4(MAN2B1):c.262+16G>A rs1184948246
NM_000528.4(MAN2B1):c.262+17G>A
NM_000528.4(MAN2B1):c.262+19C>G
NM_000528.4(MAN2B1):c.263-10T>C rs1208363184
NM_000528.4(MAN2B1):c.263-15C>T
NM_000528.4(MAN2B1):c.263-18T>C
NM_000528.4(MAN2B1):c.263-20C>T
NM_000528.4(MAN2B1):c.263-4A>C rs1201157333
NM_000528.4(MAN2B1):c.263-4A>G
NM_000528.4(MAN2B1):c.2631C>T (p.Ala877=)
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=)
NM_000528.4(MAN2B1):c.2655G>T (p.Pro885=)
NM_000528.4(MAN2B1):c.2658C>T (p.Arg886=)
NM_000528.4(MAN2B1):c.2664+13G>A
NM_000528.4(MAN2B1):c.2664+15G>A
NM_000528.4(MAN2B1):c.2664+18A>G
NM_000528.4(MAN2B1):c.2664+20G>C
NM_000528.4(MAN2B1):c.2664+7G>C
NM_000528.4(MAN2B1):c.2664+8G>A
NM_000528.4(MAN2B1):c.2664+9C>T rs1485817124
NM_000528.4(MAN2B1):c.2665-11C>G
NM_000528.4(MAN2B1):c.2665-11C>T
NM_000528.4(MAN2B1):c.2665-12T>C
NM_000528.4(MAN2B1):c.2665-15C>T
NM_000528.4(MAN2B1):c.2665-16G>A
NM_000528.4(MAN2B1):c.2665-17C>T
NM_000528.4(MAN2B1):c.2665-19C>G
NM_000528.4(MAN2B1):c.2665-19C>T
NM_000528.4(MAN2B1):c.2665-20C>G
NM_000528.4(MAN2B1):c.2665-20C>T
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
NM_000528.4(MAN2B1):c.2665-8T>C
NM_000528.4(MAN2B1):c.2673G>A (p.Gly891=)
NM_000528.4(MAN2B1):c.2674C>T (p.Leu892=)
NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=) rs1434923922
NM_000528.4(MAN2B1):c.2685C>T (p.Asp895=) rs2145221975
NM_000528.4(MAN2B1):c.2686C>T (p.Leu896=) rs2145221961
NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=)
NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=)
NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=) rs2023721432
NM_000528.4(MAN2B1):c.2697G>A (p.Ser899=)
NM_000528.4(MAN2B1):c.2697G>C (p.Ser899=) rs1342775181
NM_000528.4(MAN2B1):c.2700G>T (p.Val900=) rs1274103813
NM_000528.4(MAN2B1):c.2703C>T (p.His901=)
NM_000528.4(MAN2B1):c.2704C>T (p.Leu902=)
NM_000528.4(MAN2B1):c.2712G>A (p.Thr904=) rs773210333
NM_000528.4(MAN2B1):c.2718C>T (p.Ala906=) rs2023720244
NM_000528.4(MAN2B1):c.2730C>A (p.Pro910=)
NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=)
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2760G>A (p.Gln920=)
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=)
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=)
NM_000528.4(MAN2B1):c.2796C>T (p.Ser932=)
NM_000528.4(MAN2B1):c.2799C>T (p.Ala933=) rs2145221244
NM_000528.4(MAN2B1):c.27G>T (p.Gly9=) rs1428387159
NM_000528.4(MAN2B1):c.2802C>G (p.Pro934=)
NM_000528.4(MAN2B1):c.2802C>T (p.Pro934=) rs772974771
NM_000528.4(MAN2B1):c.2808C>G (p.Thr936=)
NM_000528.4(MAN2B1):c.2817G>A (p.Leu939=)
NM_000528.4(MAN2B1):c.2818A>C (p.Arg940=)
NM_000528.4(MAN2B1):c.2820+10G>A rs2145221057
NM_000528.4(MAN2B1):c.2820+17T>G
NM_000528.4(MAN2B1):c.2820+20G>A
NM_000528.4(MAN2B1):c.2820+7A>C
NM_000528.4(MAN2B1):c.2820+7A>G
NM_000528.4(MAN2B1):c.2820+8G>A
NM_000528.4(MAN2B1):c.2820+9G>C
NM_000528.4(MAN2B1):c.2821-12C>T
NM_000528.4(MAN2B1):c.2821-13C>A
NM_000528.4(MAN2B1):c.2821-16A>C
NM_000528.4(MAN2B1):c.2821-17C>G
NM_000528.4(MAN2B1):c.2821-20G>A
NM_000528.4(MAN2B1):c.2821-4G>A rs753776387
NM_000528.4(MAN2B1):c.2821-7C>A
NM_000528.4(MAN2B1):c.2821-8C>A
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=)
NM_000528.4(MAN2B1):c.2841C>A (p.Thr947=) rs1599338014
NM_000528.4(MAN2B1):c.2844C>T (p.Ile948=)
NM_000528.4(MAN2B1):c.2847C>T (p.Thr949=)
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=)
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=)
NM_000528.4(MAN2B1):c.2898C>T (p.Ser966=) rs2145220044
NM_000528.4(MAN2B1):c.2913A>G (p.Thr971=) rs2145219944
NM_000528.4(MAN2B1):c.2923+10T>G
NM_000528.4(MAN2B1):c.2923+12G>A
NM_000528.4(MAN2B1):c.2923+16G>A
NM_000528.4(MAN2B1):c.2923+20T>A
NM_000528.4(MAN2B1):c.2924-10A>G
NM_000528.4(MAN2B1):c.2924-16C>T
NM_000528.4(MAN2B1):c.2924-19T>G
NM_000528.4(MAN2B1):c.2924-4C>G
NM_000528.4(MAN2B1):c.2924-4C>T rs767564979
NM_000528.4(MAN2B1):c.2924-5_2924-3del
NM_000528.4(MAN2B1):c.2924-6C>T
NM_000528.4(MAN2B1):c.2924-9C>T
NM_000528.4(MAN2B1):c.2934C>T (p.Pro978=)
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.2970C>A (p.Ile990=)
NM_000528.4(MAN2B1):c.2974C>T (p.Leu992=)
NM_000528.4(MAN2B1):c.297C>T (p.Tyr99=)
NM_000528.4(MAN2B1):c.2982C>T (p.Pro994=)
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.3000C>T (p.Phe1000=)
NM_000528.4(MAN2B1):c.3009A>G (p.Ser1003=)
NM_000528.4(MAN2B1):c.300C>T (p.Ile100=)
NM_000528.4(MAN2B1):c.3030T>C (p.Asp1010=)
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.30C>G (p.Val10=) rs2145294698
NM_000528.4(MAN2B1):c.312C>T (p.Val104=)
NM_000528.4(MAN2B1):c.325C>T (p.Leu109=) rs756417972
NM_000528.4(MAN2B1):c.333T>C (p.Asp111=)
NM_000528.4(MAN2B1):c.33C>T (p.Cys11=) rs1599361566
NM_000528.4(MAN2B1):c.360G>A (p.Glu120=) rs2145289378
NM_000528.4(MAN2B1):c.366C>T (p.Ala122=)
NM_000528.4(MAN2B1):c.387C>T (p.His129=)
NM_000528.4(MAN2B1):c.39C>A (p.Arg13=) rs537304777
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=) rs537304777
NM_000528.4(MAN2B1):c.418C>A (p.Arg140=) rs370803545
NM_000528.4(MAN2B1):c.426T>C (p.Leu142=)
NM_000528.4(MAN2B1):c.429G>A (p.Val143=) rs2145288992
NM_000528.4(MAN2B1):c.436+10C>T
NM_000528.4(MAN2B1):c.436+12C>G rs373250649
NM_000528.4(MAN2B1):c.436+13C>G
NM_000528.4(MAN2B1):c.436+14A>G
NM_000528.4(MAN2B1):c.436+20G>A
NM_000528.4(MAN2B1):c.436+20G>T
NM_000528.4(MAN2B1):c.437-11T>G
NM_000528.4(MAN2B1):c.437-20C>T
NM_000528.4(MAN2B1):c.437-4A>G
NM_000528.4(MAN2B1):c.437-4dup
NM_000528.4(MAN2B1):c.438G>A (p.Gly146=)
NM_000528.4(MAN2B1):c.447G>A (p.Glu149=)
NM_000528.4(MAN2B1):c.468G>A (p.Val156=) rs746115085
NM_000528.4(MAN2B1):c.46C>T (p.Leu16=)
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.510C>T (p.Asp170=)
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=)
NM_000528.4(MAN2B1):c.57A>G (p.Ala19=) rs2024254219
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.60C>A (p.Gly20=) rs754783943
NM_000528.4(MAN2B1):c.60C>T (p.Gly20=)
NM_000528.4(MAN2B1):c.619C>T (p.Leu207=)
NM_000528.4(MAN2B1):c.624T>C (p.Phe208=) rs374524357
NM_000528.4(MAN2B1):c.627G>C (p.Ala209=)
NM_000528.4(MAN2B1):c.630+10G>A rs1200800972
NM_000528.4(MAN2B1):c.630+12G>A
NM_000528.4(MAN2B1):c.630+14C>T
NM_000528.4(MAN2B1):c.630+7C>A rs1175845932
NM_000528.4(MAN2B1):c.630+9C>G rs756927782
NM_000528.4(MAN2B1):c.631-12C>T
NM_000528.4(MAN2B1):c.631-15C>T
NM_000528.4(MAN2B1):c.631-17T>G rs2145283422
NM_000528.4(MAN2B1):c.631-4C>G
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
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=)
NM_000528.4(MAN2B1):c.687G>A (p.Arg229=) rs1599357346
NM_000528.4(MAN2B1):c.697C>T (p.Leu233=)
NM_000528.4(MAN2B1):c.708G>A (p.Glu236=)
NM_000528.4(MAN2B1):c.729C>T (p.Thr243=) rs2145282936
NM_000528.4(MAN2B1):c.732C>T (p.Ser244=)
NM_000528.4(MAN2B1):c.750G>A (p.Ala250=)
NM_000528.4(MAN2B1):c.75C>T (p.Ser25=)
NM_000528.4(MAN2B1):c.763+12G>C
NM_000528.4(MAN2B1):c.763+9C>A
NM_000528.4(MAN2B1):c.764-11G>A
NM_000528.4(MAN2B1):c.764-14G>T
NM_000528.4(MAN2B1):c.764-16T>C
NM_000528.4(MAN2B1):c.764-20G>A
NM_000528.4(MAN2B1):c.764-5T>G
NM_000528.4(MAN2B1):c.764-6C>T
NM_000528.4(MAN2B1):c.764-7C>T
NM_000528.4(MAN2B1):c.771T>A (p.Leu257=)
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=)
NM_000528.4(MAN2B1):c.804C>T (p.Cys268=)
NM_000528.4(MAN2B1):c.810T>C (p.Asp270=) rs2145281612
NM_000528.4(MAN2B1):c.816G>A (p.Leu272=)
NM_000528.4(MAN2B1):c.831_832delinsAG (p.Leu278Val)
NM_000528.4(MAN2B1):c.852C>T (p.Ser284=)
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.87G>A (p.Arg29=)
NM_000528.4(MAN2B1):c.885C>T (p.Tyr295=)
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
NM_000528.4(MAN2B1):c.909+15C>T
NM_000528.4(MAN2B1):c.909+20C>A
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
NM_000528.4(MAN2B1):c.910-13C>T
NM_000528.4(MAN2B1):c.910-14C>T
NM_000528.4(MAN2B1):c.910-15C>A
NM_000528.4(MAN2B1):c.910-15C>G
NM_000528.4(MAN2B1):c.910-16C>T
NM_000528.4(MAN2B1):c.910-4G>T rs1384001200
NM_000528.4(MAN2B1):c.910-6C>T
NM_000528.4(MAN2B1):c.910-7C>T rs2145273567
NM_000528.4(MAN2B1):c.910-8G>C rs2145273572
NM_000528.4(MAN2B1):c.915G>A (p.Arg305=) rs755994517
NM_000528.4(MAN2B1):c.924C>A (p.Arg308=)
NM_000528.4(MAN2B1):c.924C>T (p.Arg308=) rs1168829518
NM_000528.4(MAN2B1):c.939G>T (p.Val313=) rs942342696
NM_000528.4(MAN2B1):c.951C>T (p.Gly317=)
NM_000528.4(MAN2B1):c.954G>A (p.Ser318=)
NM_000528.4(MAN2B1):c.972T>C (p.Asn324=)
NM_000528.4(MAN2B1):c.975C>T (p.Ala325=)
NM_000528.4(MAN2B1):c.993C>T (p.Asn331=) rs2145272833
NM_000528.4(MAN2B1):c.99G>C (p.Pro33=)
NM_000528.4(MAN2B1):c.9C>T (p.Ala3=) rs1228433382

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