ClinVar Miner

List of variants studied for Deficiency of alpha-mannosidase by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1472
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.33916
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.29947
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536 0.05436
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640 0.02554
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569 0.01148
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017 0.01054
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
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.2865G>C (p.Thr955=) rs148108322 0.00175
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.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.594C>T (p.Phe198=) rs371341958 0.00055
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.2849G>A (p.Arg950His) rs139041112 0.00044
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp) rs148080695 0.00036
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650 0.00036
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488 0.00032
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151 0.00031
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.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=) rs149897798 0.00029
NM_000528.4(MAN2B1):c.1419+16C>A rs572897959 0.00027
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.1110-15C>T rs202085731 0.00023
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.2993G>A (p.Arg998His) rs202174515 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.1961A>G (p.Asp654Gly) rs191035238 0.00014
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys) rs139366493 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121 0.00014
NM_000528.4(MAN2B1):c.1831-17G>A rs372997137 0.00013
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro) rs199673719 0.00013
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys) rs988974694 0.00013
NM_000528.4(MAN2B1):c.2165+20A>G rs201978883 0.00013
NM_000528.4(MAN2B1):c.630+6A>T rs372899975 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.2161G>A (p.Val721Met) rs148134639 0.00012
NM_000528.4(MAN2B1):c.28G>A (p.Val10Ile) rs558131886 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.2355+20C>T rs369249171 0.00011
NM_000528.4(MAN2B1):c.2658C>G (p.Arg886=) rs556554403 0.00011
NM_000528.4(MAN2B1):c.516G>A (p.Met172Ile) rs144119421 0.00011
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152 0.00010
NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys) rs185112259 0.00010
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.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_000528.4(MAN2B1):c.2355+5C>G rs770412137 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.7G>A (p.Ala3Thr) rs777024771 0.00009
NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys) rs749371047 0.00008
NM_000528.4(MAN2B1):c.1622A>G (p.Asn541Ser) rs564296108 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.1929-16C>T rs774404642 0.00008
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp) rs201600797 0.00008
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=) rs763786776 0.00008
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101 0.00008
NM_000528.4(MAN2B1):c.1419+11C>A rs375081677 0.00007
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00007
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.862A>G (p.Asn288Asp) rs927024699 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.2426T>C (p.Leu809Pro) rs80338681 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.2046+2T>A rs748712495 0.00005
NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser) rs779966472 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.1009C>T (p.Arg337Trp) rs774303432 0.00004
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.1645-3G>A rs748206062 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.2167G>A (p.Asp723Asn) rs749183690 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=) rs1406149211 0.00004
NM_000528.4(MAN2B1):c.2605G>A (p.Val869Met) rs1051322269 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.2884C>T (p.Arg962Cys) rs370276057 0.00004
NM_000528.4(MAN2B1):c.3015A>G (p.Gln1005=) rs570397849 0.00004
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr) rs747538432 0.00004
NM_000528.4(MAN2B1):c.552C>A (p.Gly184=) rs993605117 0.00004
NM_000528.4(MAN2B1):c.749C>T (p.Ala250Val) rs570471233 0.00004
NM_000528.4(MAN2B1):c.773C>T (p.Pro258Leu) rs1196803371 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.1022C>T (p.Ala341Val) rs574049175 0.00003
NM_000528.4(MAN2B1):c.1056C>T (p.Leu352=) rs375898929 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000528.4(MAN2B1):c.1230+13C>T rs759000191 0.00003
NM_000528.4(MAN2B1):c.1230+5G>T rs1398531876 0.00003
NM_000528.4(MAN2B1):c.1231-16A>G rs757582067 0.00003
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154 0.00003
NM_000528.4(MAN2B1):c.1444C>T (p.Arg482Trp) rs533428309 0.00003
NM_000528.4(MAN2B1):c.1506G>A (p.Pro502=) rs1167317443 0.00003
NM_000528.4(MAN2B1):c.1528-3C>A rs752895909 0.00003
NM_000528.4(MAN2B1):c.1540G>A (p.Val514Ile) rs759767616 0.00003
NM_000528.4(MAN2B1):c.1554G>A (p.Leu518=) rs763582350 0.00003
NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly) rs373101689 0.00003
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=) rs762375401 0.00003
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys) rs764543590 0.00003
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu) rs145163643 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.1837C>T (p.Arg613Trp) rs753090203 0.00003
NM_000528.4(MAN2B1):c.1844C>T (p.Thr615Met) rs140502524 0.00003
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240 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.2270G>A (p.Arg757Gln) rs772264672 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.2355+6T>A rs1052970162 0.00003
NM_000528.4(MAN2B1):c.2390G>A (p.Arg797His) rs750957781 0.00003
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe) rs367852398 0.00003
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser) rs1466468362 0.00003
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225 0.00003
NM_000528.4(MAN2B1):c.281A>G (p.His94Arg) rs950555211 0.00003
NM_000528.4(MAN2B1):c.2821-5C>T rs761870446 0.00003
NM_000528.4(MAN2B1):c.2864C>T (p.Thr955Met) rs771210668 0.00003
NM_000528.4(MAN2B1):c.2927C>G (p.Pro976Arg) rs766559062 0.00003
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu) rs376856949 0.00003
NM_000528.4(MAN2B1):c.2946G>A (p.Pro982=) rs192184706 0.00003
NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys) rs758755293 0.00003
NM_000528.4(MAN2B1):c.322T>C (p.Leu108=) rs766694689 0.00003
NM_000528.4(MAN2B1):c.430C>T (p.Arg144Cys) rs765956818 0.00003
NM_000528.4(MAN2B1):c.631-19T>C rs1335847495 0.00003
NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly) rs767313931 0.00003
NM_000528.4(MAN2B1):c.764-11G>A rs747871268 0.00003
NM_000528.4(MAN2B1):c.779G>T (p.Gly260Val) rs976940825 0.00003
NM_000528.4(MAN2B1):c.785A>G (p.Asn262Ser) rs944317989 0.00003
NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys) rs1177229578 0.00003
NM_000528.4(MAN2B1):c.909+15C>T rs1017356457 0.00003
NM_000528.4(MAN2B1):c.1100A>G (p.Asn367Ser) rs771528526 0.00002
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.1230+3G>A rs544337017 0.00002
NM_000528.4(MAN2B1):c.1309+7del rs1382121208 0.00002
NM_000528.4(MAN2B1):c.1419G>A (p.Glu473=) rs561829731 0.00002
NM_000528.4(MAN2B1):c.1420-12G>T rs1022564280 0.00002
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser) rs377509266 0.00002
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=) rs754672974 0.00002
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 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.1889A>G (p.Asn630Ser) rs539124424 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer) rs999923581 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2166C>T (p.Gly722=) rs770976179 0.00002
NM_000528.4(MAN2B1):c.2181G>C (p.Lys727Asn) rs142210875 0.00002
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu) rs1270784757 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.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000528.4(MAN2B1):c.2349C>T (p.Tyr783=) rs948101708 0.00002
NM_000528.4(MAN2B1):c.2354C>T (p.Thr785Met) rs372011807 0.00002
NM_000528.4(MAN2B1):c.2356-17C>G rs2023776596 0.00002
NM_000528.4(MAN2B1):c.241del (p.Val81fs) rs746868162 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.2479G>C (p.Glu827Gln) rs745928175 0.00002
NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg) rs1230523125 0.00002
NM_000528.4(MAN2B1):c.2655G>A (p.Pro885=) rs1046211352 0.00002
NM_000528.4(MAN2B1):c.2659A>G (p.Thr887Ala) rs1186717379 0.00002
NM_000528.4(MAN2B1):c.2674C>A (p.Leu892Met) rs368951229 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser) rs148724402 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.427G>A (p.Val143Met) rs1420612834 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.64T>C (p.Trp22Arg) rs1329492928 0.00002
NM_000528.4(MAN2B1):c.658C>T (p.Arg220Cys) rs752541064 0.00002
NM_000528.4(MAN2B1):c.659G>A (p.Arg220His) rs1310537291 0.00002
NM_000528.4(MAN2B1):c.763+9C>T rs1266555392 0.00002
NM_000528.4(MAN2B1):c.848G>A (p.Arg283His) rs377049583 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+2T>G rs369099686 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.1087C>G (p.Leu363Val) rs527314497 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.1114G>T (p.Val372Leu) rs745579139 0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter) rs778554304 0.00001
NM_000528.4(MAN2B1):c.1142C>T (p.Ala381Val) rs971436574 0.00001
NM_000528.4(MAN2B1):c.114C>T (p.Phe38=) rs2024251453 0.00001
NM_000528.4(MAN2B1):c.1169G>C (p.Gly390Ala) rs774968464 0.00001
NM_000528.4(MAN2B1):c.1188G>A (p.Pro396=) rs749011134 0.00001
NM_000528.4(MAN2B1):c.1199G>A (p.Arg400His) rs755997325 0.00001
NM_000528.4(MAN2B1):c.1204G>C (p.Glu402Gln) rs370760999 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.1230G>C (p.Gln410His) rs563097824 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.1250C>T (p.Ala417Val) rs762379857 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 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.1309A>G (p.Asn437Asp) rs370036738 0.00001
NM_000528.4(MAN2B1):c.1313A>T (p.Glu438Val) rs867708818 0.00001
NM_000528.4(MAN2B1):c.1329C>A (p.Leu443=) rs781687405 0.00001
NM_000528.4(MAN2B1):c.1337A>C (p.His446Pro) rs1470391256 0.00001
NM_000528.4(MAN2B1):c.1341C>T (p.Asp447=) rs529471612 0.00001
NM_000528.4(MAN2B1):c.1345G>A (p.Val449Ile) rs764898305 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 0.00001
NM_000528.4(MAN2B1):c.1410G>A (p.Gly470=) rs1382087193 0.00001
NM_000528.4(MAN2B1):c.1419+12G>A rs755497429 0.00001
NM_000528.4(MAN2B1):c.1419+13A>G rs752055524 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.1420-1G>A rs752229880 0.00001
NM_000528.4(MAN2B1):c.1420G>T (p.Val474Phe) rs1276104443 0.00001
NM_000528.4(MAN2B1):c.1440G>C (p.Leu480=) rs1159688563 0.00001
NM_000528.4(MAN2B1):c.1461A>C (p.Lys487Asn) rs142734279 0.00001
NM_000528.4(MAN2B1):c.1472C>T (p.Thr491Ile) rs1416247798 0.00001
NM_000528.4(MAN2B1):c.1514A>G (p.Gln505Arg) rs2023977189 0.00001
NM_000528.4(MAN2B1):c.1525C>T (p.Arg509Cys) rs766228737 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.1568A>C (p.Asn523Thr) rs2023967508 0.00001
NM_000528.4(MAN2B1):c.1578A>T (p.Val526=) rs768096085 0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000528.4(MAN2B1):c.1586C>T (p.Pro529Leu) rs1330706618 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.159+2T>C rs1057516501 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.1596A>C (p.Glu532Asp) rs2023965888 0.00001
NM_000528.4(MAN2B1):c.15G>A (p.Ala5=) rs1337864540 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.1645-1G>A rs938576591 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.1667A>C (p.Asp556Ala) rs1325770668 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 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.1703C>G (p.Ala568Gly) rs2023940827 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.1747G>A (p.Val583Met) rs1452897678 0.00001
NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys) rs912714124 0.00001
NM_000528.4(MAN2B1):c.1773C>T (p.Arg591=) rs987054644 0.00001
NM_000528.4(MAN2B1):c.1774G>A (p.Ala592Thr) rs766021102 0.00001
NM_000528.4(MAN2B1):c.1782G>A (p.Gln594=) rs573996230 0.00001
NM_000528.4(MAN2B1):c.1787T>G (p.Ile596Ser) rs769653813 0.00001
NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr) rs540409826 0.00001
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs) rs2145250113 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.1830+3G>T rs376163192 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs) rs752987724 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.1936G>A (p.Ala646Thr) rs148661421 0.00001
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys) rs1481077295 0.00001
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=) rs547133035 0.00001
NM_000528.4(MAN2B1):c.1954G>A (p.Glu652Lys) rs756680048 0.00001
NM_000528.4(MAN2B1):c.195G>T (p.Val65=) rs1483030644 0.00001
NM_000528.4(MAN2B1):c.1960G>T (p.Asp654Tyr) rs932247520 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.1994A>T (p.Asn665Ile) rs762894770 0.00001
NM_000528.4(MAN2B1):c.201G>A (p.Leu67=) rs1329607881 0.00001
NM_000528.4(MAN2B1):c.2021G>A (p.Arg674His) rs1376498384 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.2047A>G (p.Thr683Ala) rs746776449 0.00001
NM_000528.4(MAN2B1):c.2065G>A (p.Val689Met) rs778745390 0.00001
NM_000528.4(MAN2B1):c.2076C>T (p.Asn692=) rs376110556 0.00001
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile) rs561720564 0.00001
NM_000528.4(MAN2B1):c.212C>T (p.Thr71Ile) rs1458969193 0.00001
NM_000528.4(MAN2B1):c.2144C>T (p.Ser715Leu) rs955787667 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.2166-8G>A rs774350579 0.00001
NM_000528.4(MAN2B1):c.2178G>A (p.Gly726=) rs1475690846 0.00001
NM_000528.4(MAN2B1):c.2180A>G (p.Lys727Arg) rs201318291 0.00001
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly) rs781046464 0.00001
NM_000528.4(MAN2B1):c.2193C>T (p.Ser731=) rs1396810329 0.00001
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00001
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=) rs750890285 0.00001
NM_000528.4(MAN2B1):c.2224C>T (p.Arg742Cys) rs767192781 0.00001
NM_000528.4(MAN2B1):c.2225G>A (p.Arg742His) rs370551216 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.2267+1G>A rs1022927322 0.00001
NM_000528.4(MAN2B1):c.2267+5G>A rs1202067332 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.2306A>G (p.Glu769Gly) rs1026952158 0.00001
NM_000528.4(MAN2B1):c.2309C>T (p.Pro770Leu) rs764964301 0.00001
NM_000528.4(MAN2B1):c.2342G>A (p.Arg781Gln) rs375598352 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.2389C>T (p.Arg797Cys) rs772742355 0.00001
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994 0.00001
NM_000528.4(MAN2B1):c.240C>T (p.Thr80=) rs772053358 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 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.2489T>C (p.Met830Thr) rs1438173166 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.2500T>C (p.Ser834Pro) rs1046850193 0.00001
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg) rs760097655 0.00001
NM_000528.4(MAN2B1):c.2524C>T (p.His842Tyr) rs1327029675 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.2555C>T (p.Ala852Val) rs2512486626 0.00001
NM_000528.4(MAN2B1):c.2559C>T (p.Ala853=) rs1231981026 0.00001
NM_000528.4(MAN2B1):c.2561C>T (p.Ala854Val) rs775204651 0.00001
NM_000528.4(MAN2B1):c.2577G>A (p.Leu859=) rs1219899115 0.00001
NM_000528.4(MAN2B1):c.2579C>T (p.Ala860Val) rs749425508 0.00001
NM_000528.4(MAN2B1):c.2583G>A (p.Glu861=) rs778022209 0.00001
NM_000528.4(MAN2B1):c.2590G>A (p.Val864Ile) rs753095085 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.262+2T>C rs2512517362 0.00001
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=) rs545541738 0.00001
NM_000528.4(MAN2B1):c.2626G>A (p.Gly876Ser) rs979496069 0.00001
NM_000528.4(MAN2B1):c.263-1G>A rs752784885 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.2697G>A (p.Ser899=) rs1342775181 0.00001
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu) rs1170799731 0.00001
NM_000528.4(MAN2B1):c.2703C>T (p.His901=) rs2023720891 0.00001
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val) rs1301597273 0.00001
NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=) rs773210333 0.00001
NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile) rs1275680526 0.00001
NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met) rs929568109 0.00001
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val) rs751849414 0.00001
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683 0.00001
NM_000528.4(MAN2B1):c.27G>C (p.Gly9=) rs1428387159 0.00001
NM_000528.4(MAN2B1):c.2803G>A (p.Val935Ile) rs765269491 0.00001
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132 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.2846C>T (p.Thr949Ile) rs377567861 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.2885G>A (p.Arg962His) rs750173812 0.00001
NM_000528.4(MAN2B1):c.2892A>G (p.Ala964=) rs377438700 0.00001
NM_000528.4(MAN2B1):c.2903T>C (p.Leu968Pro) rs200431869 0.00001
NM_000528.4(MAN2B1):c.2906A>G (p.Lys969Arg) rs1323141015 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.2923+20T>A rs1229516687 0.00001
NM_000528.4(MAN2B1):c.2960C>T (p.Pro987Leu) rs373174565 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.3002T>C (p.Leu1001Pro) rs762104115 0.00001
NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr) rs1294764488 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.308C>T (p.Ser103Leu) rs1369134650 0.00001
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=) rs1175779934 0.00001
NM_000528.4(MAN2B1):c.321C>T (p.Ala107=) rs200373194 0.00001
NM_000528.4(MAN2B1):c.334C>T (p.Pro112Ser) rs1312728452 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.376C>T (p.Arg126Cys) rs576498138 0.00001
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=) rs537304777 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.415G>A (p.Val139Met) rs757860525 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.429G>A (p.Val143=) rs2145288992 0.00001
NM_000528.4(MAN2B1):c.431G>A (p.Arg144His) rs202245970 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.436G>A (p.Gly146Arg) rs767951916 0.00001
NM_000528.4(MAN2B1):c.437-1G>A rs200048536 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.439C>T (p.Arg147Cys) rs765088432 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.469A>T (p.Met157Leu) rs1216161567 0.00001
NM_000528.4(MAN2B1):c.50A>G (p.Asp17Gly) rs755738320 0.00001
NM_000528.4(MAN2B1):c.510C>T (p.Asp170=) rs1280928119 0.00001
NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter) rs1445498020 0.00001
NM_000528.4(MAN2B1):c.51C>T (p.Asp17=) rs747792561 0.00001
NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser) rs2024189461 0.00001
NM_000528.4(MAN2B1):c.55G>A (p.Ala19Thr) rs1346520961 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 0.00001
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr) rs750137512 0.00001
NM_000528.4(MAN2B1):c.591C>T (p.Pro197=) rs753665587 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.59G>A (p.Gly20Asp) rs1220611493 0.00001
NM_000528.4(MAN2B1):c.602C>G (p.Ser201Cys) rs776241681 0.00001
NM_000528.4(MAN2B1):c.604C>A (p.Arg202=) rs1024510764 0.00001
NM_000528.4(MAN2B1):c.60C>T (p.Gly20=) rs754783943 0.00001
NM_000528.4(MAN2B1):c.618G>A (p.Ser206=) rs1287151465 0.00001
NM_000528.4(MAN2B1):c.619C>A (p.Leu207Met) rs778300782 0.00001
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His) rs1408334891 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.671A>G (p.Gln224Arg) rs544498759 0.00001
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter) rs2512512433 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 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.752A>T (p.Asp251Val) rs754932497 0.00001
NM_000528.4(MAN2B1):c.75C>G (p.Ser25=) rs1178249579 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.767T>G (p.Val256Gly) rs1407251533 0.00001
NM_000528.4(MAN2B1):c.771T>A (p.Leu257=) rs2512511526 0.00001
NM_000528.4(MAN2B1):c.776A>G (p.Asn259Ser) rs768516728 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.830C>T (p.Pro277Leu) rs779091097 0.00001
NM_000528.4(MAN2B1):c.831G>A (p.Pro277=) rs757417272 0.00001
NM_000528.4(MAN2B1):c.836T>C (p.Val279Ala) rs1468152386 0.00001
NM_000528.4(MAN2B1):c.840G>A (p.Glu280=) rs764312812 0.00001
NM_000528.4(MAN2B1):c.847C>T (p.Arg283Cys) rs978130289 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.880G>A (p.Asp294Asn) rs973412688 0.00001
NM_000528.4(MAN2B1):c.889C>T (p.Leu297=) rs771874603 0.00001
NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val) rs199690827 0.00001
NM_000528.4(MAN2B1):c.901A>G (p.Thr301Ala) rs757302890 0.00001
NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser) rs1288920089 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.914G>A (p.Arg305Gln) rs781394900 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.923G>A (p.Arg308His) rs766861806 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.946A>G (p.Met316Val) rs373636903 0.00001
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile) rs1471471874 0.00001
NM_000528.4(MAN2B1):c.954G>A (p.Ser318=) rs770875556 0.00001
NM_000528.4(MAN2B1):c.96C>T (p.Leu32=) rs1253976874 0.00001
NM_000528.4(MAN2B1):c.972T>C (p.Asn324=) rs1284707476 0.00001
NM_000528.4(MAN2B1):c.9C>T (p.Ala3=) rs1228433382 0.00001
NC_000019.10:g.(?_12656561)_(12661386_?)del
NC_000019.9:g.(?_10828919)_(13482613_?)dup
NC_000019.9:g.(?_12757424)_(12769334_?)del
NC_000019.9:g.(?_12757434)_(12758432_?)del
NC_000019.9:g.(?_12757434)_(12761056_?)del
NC_000019.9:g.(?_12757434)_(12772210_?)del
NC_000019.9:g.(?_12757434)_(12780217_?)del
NC_000019.9:g.(?_12758358)_(12759516_?)del
NC_000019.9:g.(?_12760707)_(12761056_?)del
NC_000019.9:g.(?_12760707)_(12763294_?)dup
NC_000019.9:g.(?_12760717)_(12761046_?)dup
NC_000019.9:g.(?_12762947)_(12769344_?)del
NC_000019.9:g.(?_12762947)_(12772210_?)del
NC_000019.9:g.(?_12767365)_(12769344_?)del
NC_000019.9:g.(?_12768857)_(12780217_?)del
NC_000019.9:g.(?_12768867)_(12769334_?)del
NC_000019.9:g.(?_12772054)_(12777515_?)dup
NC_000019.9:g.(?_12774121)_(12774659_?)del
NC_000019.9:g.(?_12775596)_(12777525_?)del
NM_000528.4(MAN2B1):c.1003C>T (p.Leu335Phe) rs2145272792
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.100C>A (p.Pro34Thr) rs900272650
NM_000528.4(MAN2B1):c.1015G>A (p.Val339Ile) rs968321992
NM_000528.4(MAN2B1):c.1016T>C (p.Val339Ala) rs1168137854
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.1027-1G>C rs2512504273
NM_000528.4(MAN2B1):c.1027-20T>C rs754654189
NM_000528.4(MAN2B1):c.1027-2A>G
NM_000528.4(MAN2B1):c.1027-6C>T rs2512504286
NM_000528.4(MAN2B1):c.1027-6del rs1384911711
NM_000528.4(MAN2B1):c.1027-7C>G rs1454372793
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.103_106del (p.Leu35fs) rs2024251717
NM_000528.4(MAN2B1):c.1047C>T (p.Val349=) rs2512504238
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.105C>G (p.Leu35=) rs2512520096
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
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.1066C>G (p.Pro356Ala) rs2145262130
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.1068dup (p.Ala357fs) rs2024028589
NM_000528.4(MAN2B1):c.1071T>C (p.Ala357=) rs1295883552
NM_000528.4(MAN2B1):c.1074T>G (p.Cys358Trp)
NM_000528.4(MAN2B1):c.1078C>G (p.Leu360Val) rs2145262015
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs) rs2145261994
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+1G>C rs2024027294
NM_000528.4(MAN2B1):c.1109+20A>T rs2512503999
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-10G>A rs2512503855
NM_000528.4(MAN2B1):c.1110-17dup rs2512503868
NM_000528.4(MAN2B1):c.1110-1G>A rs1599352199
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
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.1132_1133del (p.Phe378fs) rs2512503786
NM_000528.4(MAN2B1):c.1134C>T (p.Phe378=) rs756124107
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter) rs767768982
NM_000528.4(MAN2B1):c.1140C>T (p.Tyr380=) rs767768982
NM_000528.4(MAN2B1):c.1148del (p.Gly383fs) rs2512503737
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.1156C>T (p.Gln386Ter) rs1447244591
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter) rs2512503667
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.1188G>C (p.Pro396=) rs749011134
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs) rs753695099
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter) rs370760999
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.1223del (p.Phe408fs) rs2024020274
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter) rs2024019978
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.1230+8G>A rs1289710516
NM_000528.4(MAN2B1):c.1231-13C>A rs372848519
NM_000528.4(MAN2B1):c.1231-13C>G rs372848519
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
NM_000528.4(MAN2B1):c.1231-17T>A rs2512503299
NM_000528.4(MAN2B1):c.1231-1G>C
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.1259G>A (p.Gly420Asp) rs772853856
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.1271A>G (p.Asn424Ser) rs1322106502
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.1278del (p.Tyr428fs) rs2512503118
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) rs2024014272
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu) rs867517934
NM_000528.4(MAN2B1):c.1299T>A (p.Ser433Arg) rs2512503032
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.1310-1G>A rs1555708156
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.1310A>G (p.Asn437Ser) rs2512501798
NM_000528.4(MAN2B1):c.131del (p.Ala44fs) rs2512519985
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.1344C>T (p.Ala448=)
NM_000528.4(MAN2B1):c.1350C>A (p.Ser450Arg) rs1237022008
NM_000528.4(MAN2B1):c.1350C>T (p.Ser450=) rs1237022008
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs) rs2145256864
NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=) rs1160056496
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=) rs1599350780
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.1371G>C (p.Val457=)
NM_000528.4(MAN2B1):c.1375_1377del (p.Asn459del) rs2023995909
NM_000528.4(MAN2B1):c.1377C>T (p.Asn459=) rs1258176012
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=) rs1485268011
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.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1389C>T (p.Arg463=) rs1283210951
NM_000528.4(MAN2B1):c.1395T>C (p.Leu465=) rs2512501428
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=) rs1314080939
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1408G>A (p.Gly470Arg) rs2512501354
NM_000528.4(MAN2B1):c.1410G>C (p.Gly470=) rs1382087193
NM_000528.4(MAN2B1):c.1410G>T (p.Gly470=) rs1382087193
NM_000528.4(MAN2B1):c.1419+16C>T rs572897959
NM_000528.4(MAN2B1):c.1419+1G>T rs2023994157
NM_000528.4(MAN2B1):c.1419+20G>A rs2512501252
NM_000528.4(MAN2B1):c.1419+2_1419+15del rs2145256406
NM_000528.4(MAN2B1):c.1419+5G>T rs540367946
NM_000528.4(MAN2B1):c.1419+7G>A rs1235244356
NM_000528.4(MAN2B1):c.1419+9G>T
NM_000528.4(MAN2B1):c.141T>C (p.Ala47=) rs2512519938
NM_000528.4(MAN2B1):c.1420-104_1449del rs2512500150
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.1420-27_1420-3del rs1234850408
NM_000528.4(MAN2B1):c.1420-2A>G rs2145254657
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.142C>G (p.Arg48Gly) rs762092637
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.1454G>C (p.Gly485Ala) rs373553609
NM_000528.4(MAN2B1):c.1454G>T (p.Gly485Val) rs373553609
NM_000528.4(MAN2B1):c.1455C>T (p.Gly485=) rs2512500119
NM_000528.4(MAN2B1):c.145dup (p.Ala49fs) rs2512519922
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.1468_1469del (p.Phe490fs) rs2145254277
NM_000528.4(MAN2B1):c.1477del (p.Cys493fs) rs2512500073
NM_000528.4(MAN2B1):c.1482A>G (p.Gln494=)
NM_000528.4(MAN2B1):c.1485G>A (p.Gln495=) rs2512500040
NM_000528.4(MAN2B1):c.1492A>G (p.Ile498Val) rs1339651416
NM_000528.4(MAN2B1):c.1494C>G (p.Ile498Met) rs1298437271
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.1511G>C (p.Ser504Thr) rs780657630
NM_000528.4(MAN2B1):c.1515G>A (p.Gln505=) rs2512499970
NM_000528.4(MAN2B1):c.1517C>A (p.Thr506Lys) rs139255957
NM_000528.4(MAN2B1):c.1520C>T (p.Ala507Val) rs2512499962
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+1G>T rs1322313985
NM_000528.4(MAN2B1):c.1527+20G>T rs761752310
NM_000528.4(MAN2B1):c.1527+2T>G rs2145254041
NM_000528.4(MAN2B1):c.1527+3G>C rs750261637
NM_000528.4(MAN2B1):c.1527+8G>A rs1216647114
NM_000528.4(MAN2B1):c.1527+8G>C rs1216647114
NM_000528.4(MAN2B1):c.1528-11del rs2145253449
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.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.1528-2A>G rs2145253412
NM_000528.4(MAN2B1):c.1528-5C>T rs1177088769
NM_000528.4(MAN2B1):c.1534del (p.Val512fs) rs2023968643
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.1541T>C (p.Val514Ala) rs1599349485
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter) rs2023968144
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.1583_1599dup (p.Val534fs) rs2512499210
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+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+7G>A rs2145293824
NM_000528.4(MAN2B1):c.159+9G>C rs764391534
NM_000528.4(MAN2B1):c.1598G>A (p.Gly533Asp) rs2145253098
NM_000528.4(MAN2B1):c.15G>C (p.Ala5=) rs1337864540
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.1606G>A (p.Val536Ile) rs2512499180
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs) rs2145290975
NM_000528.4(MAN2B1):c.1631C>T (p.Thr544Ile) rs1599349315
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.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.1652T>C (p.Ile551Thr) rs1475575364
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.1667_1670del (p.Asp556fs) rs2512497760
NM_000528.4(MAN2B1):c.1668C>T (p.Asp556=) rs766513928
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs) rs2145290929
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.1676C>A (p.Ala559Glu)
NM_000528.4(MAN2B1):c.1682C>A (p.Pro561His) rs372845403
NM_000528.4(MAN2B1):c.1682C>G (p.Pro561Arg) rs372845403
NM_000528.4(MAN2B1):c.1684C>T (p.Pro562Ser) rs1303843843
NM_000528.4(MAN2B1):c.1685C>A (p.Pro562Gln) rs368245289
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.16C>A (p.Arg6=) rs2024256322
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.1712C>A (p.Pro571His) rs2512497665
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.1730C>G (p.Thr577Ser) rs2145250460
NM_000528.4(MAN2B1):c.1734T>C (p.Tyr578=) rs1291856947
NM_000528.4(MAN2B1):c.1739_1741del (p.Val580del) rs2512497612
NM_000528.4(MAN2B1):c.1740A>G (p.Val580=) rs757635212
NM_000528.4(MAN2B1):c.1741G>A (p.Ala581Thr) rs2145250381
NM_000528.4(MAN2B1):c.1748T>A (p.Val583Glu) rs2145250358
NM_000528.4(MAN2B1):c.1753C>G (p.Arg585Gly) rs764543590
NM_000528.4(MAN2B1):c.1754G>T (p.Arg585Leu) rs1374305848
NM_000528.4(MAN2B1):c.1770C>T (p.Ala590=) rs2512497565
NM_000528.4(MAN2B1):c.177G>A (p.Gln59=)
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn) rs769653813
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.1802G>A (p.Trp601Ter) rs2145250103
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+3G>A rs376163192
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.1863G>T (p.Gly621=) rs2145240167
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.18G>C (p.Arg6=) rs1439136027
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.1912C>T (p.Arg638Cys) rs749533406
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro) rs146725928
NM_000528.4(MAN2B1):c.1917G>C (p.Gln639His) rs2023858969
NM_000528.4(MAN2B1):c.1919C>A (p.Thr640Asn) rs896029570
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.1928G>A (p.Trp643Ter) rs1599344532
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.1929-2A>G rs2023856348
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.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.192C>T (p.Asn64=) rs774892701
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del) rs1599344435
NM_000528.4(MAN2B1):c.1950C>T (p.Asp650=) rs2512492719
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1959T>C (p.Ser653=) rs1399579935
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter) rs2023854692
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs) rs754014741
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.1993A>C (p.Asn665His) rs2023853658
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter) rs2512492578
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.2004A>G (p.Lys668=) rs750566481
NM_000528.4(MAN2B1):c.2006C>G (p.Pro669Arg) rs75029862
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.2014G>C (p.Val672Leu) rs2023852573
NM_000528.4(MAN2B1):c.2036A>G (p.His679Arg) rs2512492453
NM_000528.4(MAN2B1):c.2037C>T (p.His679=)
NM_000528.4(MAN2B1):c.2046+6G>T rs748175413
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.2050C>A (p.Pro684Thr) rs2023810273
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.2097G>C (p.Gln699His) 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.2113_2114delinsTA (p.Pro705Ter) rs2512489979
NM_000528.4(MAN2B1):c.2117_2121dup (p.Arg708fs) rs2512489970
NM_000528.4(MAN2B1):c.2121G>A (p.Gln707=) rs2023808256
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs) rs2145290731
NM_000528.4(MAN2B1):c.2133G>A (p.Glu711=) rs2512489938
NM_000528.4(MAN2B1):c.2147T>A (p.Val716Glu) rs2512489914
NM_000528.4(MAN2B1):c.2148G>A (p.Val716=) rs2023807461
NM_000528.4(MAN2B1):c.2152_2165+1dup rs2023806568
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.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2160T>A (p.Pro720=) rs939754783
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
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.2166-2A>G rs2145232776
NM_000528.4(MAN2B1):c.2166-8G>T rs774350579
NM_000528.4(MAN2B1):c.2169C>T (p.Asp723=) rs2145232751
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter) rs2023804275
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter) rs1392422167
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.2206C>A (p.Pro736Thr) rs2512489643
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.2237_2240del (p.Asp746fs) rs750179985
NM_000528.4(MAN2B1):c.223G>C (p.Val75Leu) rs372860498
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.2248C>G (p.Arg750Gly) rs80338680
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu) rs938995975
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+8del rs572289342
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.2268-2A>T rs2023783146
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.2272del (p.Asp758fs) rs2023782686
NM_000528.4(MAN2B1):c.2278C>A (p.Arg760=) rs121434331
NM_000528.4(MAN2B1):c.2278C>G (p.Arg760Gly) rs121434331
NM_000528.4(MAN2B1):c.2279G>C (p.Arg760Pro) rs771163474
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs) rs2512488438
NM_000528.4(MAN2B1):c.227G>A (p.Gly76Asp) rs2024218349
NM_000528.4(MAN2B1):c.2282C>G (p.Pro761Arg) rs2512488433
NM_000528.4(MAN2B1):c.2285C>T (p.Thr762Ile) rs756728834
NM_000528.4(MAN2B1):c.2286C>G (p.Thr762=) rs1329977611
NM_000528.4(MAN2B1):c.2289_2295dup (p.Asn766fs) rs2512488403
NM_000528.4(MAN2B1):c.2295G>A (p.Leu765=) rs2023781774
NM_000528.4(MAN2B1):c.2300_2301insAA (p.Thr768fs) rs2512488379
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.233T>C (p.Leu78Pro) rs1387086908
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+6T>C rs1052970162
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.237_238del (p.Lys79fs) rs2145290586
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.2390G>T (p.Arg797Leu) rs750957781
NM_000528.4(MAN2B1):c.2397G>A (p.Gln799=) rs1568298457
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs) rs1347035611
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.2437-2A>C rs1445197546
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.2437-300_2719del
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.2469_2478del (p.Gly824fs) rs2145225759
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.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2496C>T (p.Asn832=)
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg) rs144244650
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.2506G>C (p.Ala836Pro) rs140281123
NM_000528.4(MAN2B1):c.2508G>A (p.Ala836=) rs1344703081
NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter) rs2512486704
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs) rs2145225515
NM_000528.4(MAN2B1):c.2514G>A (p.Val838=) rs2512486693
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln) rs2023749207
NM_000528.4(MAN2B1):c.2518G>C (p.Gly840Arg) rs752079394
NM_000528.4(MAN2B1):c.2521C>T (p.Arg841Cys) rs2023748701
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.252C>A (p.Tyr84Ter) rs2024217585
NM_000528.4(MAN2B1):c.2533C>T (p.Leu845=) rs2023747886
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs) rs2145225250
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.2555_2586del (p.Ala852fs) rs2512486513
NM_000528.4(MAN2B1):c.2559C>G (p.Ala853=) rs1231981026
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs) rs2023745479
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.256dup (p.Tyr86fs) rs2024217430
NM_000528.4(MAN2B1):c.2571G>T (p.Arg857=) rs2145225130
NM_000528.4(MAN2B1):c.2572C>T (p.Leu858Phe) rs2512486564
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.259G>A (p.Gly87Arg) rs753811983
NM_000528.4(MAN2B1):c.2604_2605del (p.Gln868fs) rs2512486445
NM_000528.4(MAN2B1):c.2618C>A (p.Pro873Gln) rs752022224
NM_000528.4(MAN2B1):c.2618C>T (p.Pro873Leu) rs752022224
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+17del rs2512517314
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.263-2A>C rs2512516719
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.2640T>A (p.Asn880Lys) rs763786776
NM_000528.4(MAN2B1):c.2643C>T (p.Leu881=) rs2023741346
NM_000528.4(MAN2B1):c.2647del (p.Ala883fs) rs2145224416
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.2657G>A (p.Arg886His) rs1240726971
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.2665-17del rs764857421
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.2665-28_2665-9del rs2512485255
NM_000528.4(MAN2B1):c.2665-2A>G rs2512485224
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.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2674C>T (p.Leu892=) rs368951229
NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His) rs1196853128
NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=) rs1434923922
NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly) rs755681471
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.2690C>T (p.Pro897Leu) rs1195402115
NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=) rs149897798
NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs) rs2512484944
NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=) rs2023721432
NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=) rs2023721432
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu) rs767323371
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.2704C>T (p.Leu902=) rs1301597273
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.2726G>A (p.Gly909Asp) rs2023720009
NM_000528.4(MAN2B1):c.2730C>A (p.Pro910=) rs768907989
NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=) rs768907989
NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met) rs2512484930
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs) rs2145221516
NM_000528.4(MAN2B1):c.2758C>G (p.Gln920Glu) rs377752596
NM_000528.4(MAN2B1):c.2760G>A (p.Gln920=) rs2512484881
NM_000528.4(MAN2B1):c.2766C>A (p.Ala922=)
NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu) rs755553683
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.2797G>A (p.Ala933Thr) rs762841449
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.2801C>A (p.Pro934His)
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.2802dup (p.Val935fs) rs1057516864
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.2821-2A>G rs2512484545
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.282C>A (p.His94Gln) rs766810849
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.2870T>C (p.Val957Ala) rs746571094
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=) rs1376771729
NM_000528.4(MAN2B1):c.2885G>C (p.Arg962Pro) rs750173812
NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs) rs2512484336
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter) rs757072948
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs) rs2023710111
NM_000528.4(MAN2B1):c.288T>A (p.Gly96=) rs2512516631
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala) rs1365532315
NM_000528.4(MAN2B1):c.2898C>T (p.Ser966=) rs2145220044
NM_000528.4(MAN2B1):c.2907G>A (p.Lys969=)
NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile) rs2023709677
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.2923+19dup rs1192615278
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.292C>T (p.Gln98Ter) rs2024210372
NM_000528.4(MAN2B1):c.2932C>A (p.Pro978Thr) rs763382948
NM_000528.4(MAN2B1):c.2934C>T (p.Pro978=) rs2023696927
NM_000528.4(MAN2B1):c.293A>C (p.Gln98Pro) rs1055038086
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs) rs1735642901
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.29T>G (p.Val10Gly) rs1169325876
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.3013C>T (p.Gln1005Ter) rs1456738066
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=) rs2024209784
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter) rs2145289566
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.33C>T (p.Cys11=) rs1599361566
NM_000528.4(MAN2B1):c.340C>T (p.Arg114Cys) rs1280493182
NM_000528.4(MAN2B1):c.343dup (p.Arg115fs) rs2512516429
NM_000528.4(MAN2B1):c.344G>A (p.Arg115His)
NM_000528.4(MAN2B1):c.352T>G (p.Tyr118Asp) rs2512516403
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.388C>T (p.Gln130Ter) rs1366682636
NM_000528.4(MAN2B1):c.39C>A (p.Arg13=) rs537304777
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter) rs2512516231
NM_000528.4(MAN2B1):c.418C>A (p.Arg140=) rs370803545
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val) rs759257910
NM_000528.4(MAN2B1):c.426T>C (p.Leu142=) rs2512516132
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
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.437-1dup rs1160557969
NM_000528.4(MAN2B1):c.437-20C>T rs1186307645
NM_000528.4(MAN2B1):c.437-2A>G rs2512515058
NM_000528.4(MAN2B1):c.437-2del rs2512515060
NM_000528.4(MAN2B1):c.437-4A>G rs2512515068
NM_000528.4(MAN2B1):c.447G>A (p.Glu149=) rs2512515017
NM_000528.4(MAN2B1):c.451G>A (p.Ala151Thr) rs371597285
NM_000528.4(MAN2B1):c.461G>A (p.Gly154Asp) rs2512514959
NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter) rs2512514945
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer) rs2024192356
NM_000528.4(MAN2B1):c.468G>A (p.Val156=) rs746115085
NM_000528.4(MAN2B1):c.469del (p.Val156_Met157insTer) rs2512514928
NM_000528.4(MAN2B1):c.46C>T (p.Leu16=) rs2512520349
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs) rs2145287284
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter) rs771479314
NM_000528.4(MAN2B1):c.495C>T (p.Tyr165=) rs771479314
NM_000528.4(MAN2B1):c.496G>A (p.Gly166Ser) rs749680035
NM_000528.4(MAN2B1):c.502A>G (p.Ile168Val) rs2512514832
NM_000528.4(MAN2B1):c.504C>T (p.Ile168=) rs769374044
NM_000528.4(MAN2B1):c.522del (p.Leu176fs) rs2512514781
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.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs) rs2145294424
NM_000528.4(MAN2B1):c.543C>T (p.Asp181=) rs2512514716
NM_000528.4(MAN2B1):c.545C>T (p.Thr182Ile) rs1246777449
NM_000528.4(MAN2B1):c.561del (p.Arg188fs) rs770297337
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.599A>T (p.His200Leu) rs864621978
NM_000528.4(MAN2B1):c.5G>T (p.Gly2Val) rs1195139364
NM_000528.4(MAN2B1):c.603_604del (p.Arg202fs) rs2512514455
NM_000528.4(MAN2B1):c.603_604dup (p.Arg202fs) rs2512514455
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.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.627_630+1dup rs2145286437
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+5G>A rs1463229385
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.631-2A>C rs2512512595
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.632del (p.Met211fs)
NM_000528.4(MAN2B1):c.639C>G (p.Phe213Leu) rs886054233
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.640G>A (p.Asp214Asn) rs777610043
NM_000528.4(MAN2B1):c.640G>C (p.Asp214His) rs777610043
NM_000528.4(MAN2B1):c.660C>T (p.Arg220=) rs2145283213
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs) rs2512512484
NM_000528.4(MAN2B1):c.666T>C (p.Asp222=) rs754983892
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter) rs2145294443
NM_000528.4(MAN2B1):c.670_671del (p.Gln224fs) rs2512512467
NM_000528.4(MAN2B1):c.673G>C (p.Asp225His) rs2024165338
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu) rs574202419
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.743C>G (p.Pro248Arg) rs117843968
NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr) rs3745650
NM_000528.4(MAN2B1):c.750G>C (p.Ala250=)
NM_000528.4(MAN2B1):c.75C>T (p.Ser25=) rs1178249579
NM_000528.4(MAN2B1):c.763+12G>C rs2512512150
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
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.777T>G (p.Asn259Lys) rs1281701206
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter) rs2024155693
NM_000528.4(MAN2B1):c.783C>T (p.Tyr261=) rs2024155693
NM_000528.4(MAN2B1):c.787C>T (p.Pro263Ser) rs2512511498
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
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.81C>T (p.Ala27=) rs1407475487
NM_000528.4(MAN2B1):c.831_832delinsAG (p.Leu278Val) rs2512511372
NM_000528.4(MAN2B1):c.838G>A (p.Glu280Lys) rs1234056445
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.856G>T (p.Glu286Ter) rs772562587
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=) rs2512520184
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.896dup (p.Ala300fs) rs2024151949
NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val) rs991079968
NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val) rs961621873
NM_000528.4(MAN2B1):c.909+10del rs1568306887
NM_000528.4(MAN2B1):c.909+12G>A rs2512511117
NM_000528.4(MAN2B1):c.909+1G>C rs2512511146
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.910G>A (p.Gly304Ser) rs2024102051
NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp) rs202100368
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.92C>T (p.Pro31Leu) rs2024252480
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000528.4(MAN2B1):c.939G>T (p.Val313=) rs942342696
NM_000528.4(MAN2B1):c.940A>T (p.Met314Leu) rs2512508190
NM_000528.4(MAN2B1):c.951C>T (p.Gly317=) rs2512508161
NM_000528.4(MAN2B1):c.955G>C (p.Asp319His) rs1251243232
NM_000528.4(MAN2B1):c.956A>G (p.Asp319Gly) rs1222864490
NM_000528.4(MAN2B1):c.963A>G (p.Gln321=)
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer) rs778131120
NM_000528.4(MAN2B1):c.975C>T (p.Ala325=) rs2512508084
NM_000528.4(MAN2B1):c.979_980del (p.Met327fs) rs2145272932
NM_000528.4(MAN2B1):c.981G>T (p.Met327Ile) rs2145272922
NM_000528.4(MAN2B1):c.993C>T (p.Asn331=) rs2145272833
NM_000528.4(MAN2B1):c.997G>C (p.Asp333His) rs2512508033
NM_000528.4(MAN2B1):c.99G>C (p.Pro33=) rs1485339125
NM_000528.4(MAN2B1):c.9del (p.Tyr4fs) rs2145294851

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.