ClinVar Miner

List of variants in gene MAN2B1 studied for Deficiency of alpha-mannosidase

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Gene type:
ClinVar version:
Total variants: 1458
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2267+63A>G rs3815914 0.66212
NM_000528.4(MAN2B1):c.1310-22C>T rs73002392 0.50963
NM_000528.4(MAN2B1):c.910-73A>G rs2303731 0.40412
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
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.*42G>A rs149101136 0.00673
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 0.00296
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 0.00139
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.*105C>G rs547349667 0.00083
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799 0.00083
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846 0.00075
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.2625C>T (p.Gly875=) rs368834616 0.00056
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.135C>T (p.Ala45=) rs200413076 0.00041
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp) rs148080695 0.00038
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650 0.00036
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.2501C>T (p.Ser834Leu) rs199967717 0.00029
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
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.*41C>T rs371716069 0.00021
NM_000528.4(MAN2B1):c.1110-15C>T rs202085731 0.00019
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.2993G>A (p.Arg998His) rs202174515 0.00016
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436 0.00014
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly) rs191035238 0.00014
NM_000528.4(MAN2B1):c.630+6A>T rs372899975 0.00014
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121 0.00014
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00013
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys) rs988974694 0.00013
NM_000528.4(MAN2B1):c.*91C>T rs145108101 0.00012
NM_000528.4(MAN2B1):c.1027-4G>A rs368900863 0.00012
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 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.516G>A (p.Met172Ile) rs144119421 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.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.1622A>G (p.Asn541Ser) rs564296108 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.474C>T (p.Asn158=) rs146331898 0.00009
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958 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.1830+1G>C rs80338677 0.00008
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.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.274A>G (p.Ile92Val) rs751849414 0.00008
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984 0.00008
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_000528.4(MAN2B1):c.2047-12G>A rs769284524 0.00007
NM_000528.4(MAN2B1):c.862A>G (p.Asn288Asp) rs927024699 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.2426T>C (p.Leu809Pro) rs80338681 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.2785C>T (p.Arg929Cys) rs142248782 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.2054T>C (p.Leu685Ser) rs779966472 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.1528-3C>A rs752895909 0.00004
NM_000528.4(MAN2B1):c.1540G>A (p.Val514Ile) rs759767616 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.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.2166-8G>A rs774350579 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.2431C>T (p.Leu811Phe) rs367852398 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.2884C>T (p.Arg962Cys) rs370276057 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.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+5G>T rs1398531876 0.00003
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.1444C>T (p.Arg482Trp) rs533428309 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.1779A>G (p.Pro593=) rs146778702 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.1831-11T>C rs1030378548 0.00003
NM_000528.4(MAN2B1):c.2034C>A (p.Ile678=) rs546913005 0.00003
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=) rs776158673 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+6T>A rs1052970162 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.2864C>T (p.Thr955Met) rs771210668 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.785A>G (p.Asn262Ser) rs944317989 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.953C>T (p.Ser318Leu) rs774034389 0.00003
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_000528.4(MAN2B1):c.1100A>G (p.Asn367Ser) rs771528526 0.00002
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.1453G>A (p.Gly485Ser) rs377509266 0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 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.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.1980C>T (p.Tyr660=) rs564693678 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.2194C>T (p.Arg732Cys) rs199700264 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.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.2659A>G (p.Thr887Ala) rs1186717379 0.00002
NM_000528.4(MAN2B1):c.2821-5C>T rs761870446 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000528.4(MAN2B1):c.2923+9C>T rs771288611 0.00002
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu) rs376856949 0.00002
NM_000528.4(MAN2B1):c.437-6G>A rs1471583306 0.00002
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 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.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.1063A>C (p.Thr355Pro) rs864621992 0.00001
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333 0.00001
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=) rs746182835 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.1136C>T (p.Pro379Leu) rs864621981 0.00001
NM_000528.4(MAN2B1):c.1142C>T (p.Ala381Val) rs971436574 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.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.1259G>T (p.Gly420Val) rs772853856 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.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.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.1514A>G (p.Gln505Arg) rs2023977189 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.1528-1G>A rs561991886 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+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.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1645-2A>T rs891030696 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.1687G>T (p.Glu563Ter) rs1057516927 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.1774G>A (p.Ala592Thr) rs766021102 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.1831-2A>G rs80338678 0.00001
NM_000528.4(MAN2B1):c.1889A>G (p.Asn630Ser) rs539124424 0.00001
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His) rs775247526 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.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.2043G>A (p.Val681=) rs1459767457 0.00001
NM_000528.4(MAN2B1):c.2046+16T>G rs747744607 0.00001
NM_000528.4(MAN2B1):c.2065G>A (p.Val689Met) rs778745390 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.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.218A>G (p.Asp73Gly) rs781046464 0.00001
NM_000528.4(MAN2B1):c.2193C>T (p.Ser731=) rs1396810329 0.00001
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu) rs1270784757 0.00001
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=) rs750890285 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.222C>A (p.Asp74Glu) rs746702002 0.00001
NM_000528.4(MAN2B1):c.2265G>A (p.Arg755=) rs1177894927 0.00001
NM_000528.4(MAN2B1):c.2267+1G>A rs1022927322 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.2389C>T (p.Arg797Cys) rs772742355 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.2437-5C>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.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.2509T>C (p.Trp837Arg) rs760097655 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.2561C>T (p.Ala854Val) rs775204651 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.2671G>A (p.Gly891Arg) rs864621988 0.00001
NM_000528.4(MAN2B1):c.2676G>A (p.Leu892=) rs750952284 0.00001
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683 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.2821-19C>T rs1187808331 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.2906A>G (p.Lys969Arg) rs1323141015 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 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.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.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.402C>T (p.Ala134=) rs1399051966 0.00001
NM_000528.4(MAN2B1):c.414C>T (p.Val138=) rs1196427185 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 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.437-8T>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.469A>T (p.Met157Leu) rs1216161567 0.00001
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn) rs864621976 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.597C>T (p.Gly199=) rs200872797 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.602C>G (p.Ser201Cys) rs776241681 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.630+9C>T rs756927782 0.00001
NM_000528.4(MAN2B1):c.631-9C>T rs756874617 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.767T>G (p.Val256Gly) rs1407251533 0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159 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.843C>T (p.Asp281=) rs886054232 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 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.914G>A (p.Arg305Gln) rs781394900 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.946A>G (p.Met316Val) rs373636903 0.00001
NC_000019.9:g.(?_12757424)_(12769334_?)del
NC_000019.9:g.(?_12757434)_(12761056_?)del
NC_000019.9:g.(?_12760707)_(12763294_?)dup
NC_000019.9:g.(?_12760717)_(12761046_?)dup
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.*100T>G rs886054227
NM_000528.4(MAN2B1):c.1003C>T (p.Leu335Phe) rs2145272792
NM_000528.4(MAN2B1):c.1005C>T (p.Leu335=)
NM_000528.4(MAN2B1):c.1009C>T (p.Arg337Trp)
NM_000528.4(MAN2B1):c.100C>A (p.Pro34Thr)
NM_000528.4(MAN2B1):c.1012C>T (p.Leu338=)
NM_000528.4(MAN2B1):c.1015G>A (p.Val339Ile)
NM_000528.4(MAN2B1):c.1016T>C (p.Val339Ala)
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.1026+2T>C rs369099686
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.1027-1G>C
NM_000528.4(MAN2B1):c.1027-20T>C rs754654189
NM_000528.4(MAN2B1):c.1027-2A>C
NM_000528.4(MAN2B1):c.1027-6C>T
NM_000528.4(MAN2B1):c.1027-6del rs1384911711
NM_000528.4(MAN2B1):c.1027-7C>G
NM_000528.4(MAN2B1):c.1027-7C>T rs1454372793
NM_000528.4(MAN2B1):c.1027-9C>T
NM_000528.4(MAN2B1):c.1030G>C (p.Ala344Pro) rs2145262302
NM_000528.4(MAN2B1):c.1032A>G (p.Ala344=) rs1386894008
NM_000528.4(MAN2B1):c.1035A>G (p.Lys345=)
NM_000528.4(MAN2B1):c.103_106del (p.Leu35fs)
NM_000528.4(MAN2B1):c.1047C>T (p.Val349=)
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1059C>T (p.Tyr353=) rs200323310
NM_000528.4(MAN2B1):c.105C>G (p.Leu35=)
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=)
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=)
NM_000528.4(MAN2B1):c.1078C>G (p.Leu360Val) rs2145262015
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs) rs2145261994
NM_000528.4(MAN2B1):c.1087C>G (p.Leu363Val)
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+1G>C rs2024027294
NM_000528.4(MAN2B1):c.1109+20A>T
NM_000528.4(MAN2B1):c.1109+8G>T
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-10G>A
NM_000528.4(MAN2B1):c.1110-13C>A
NM_000528.4(MAN2B1):c.1110-15C>G rs202085731
NM_000528.4(MAN2B1):c.1110-17T>C
NM_000528.4(MAN2B1):c.1110-17dup
NM_000528.4(MAN2B1):c.1110-18A>G
NM_000528.4(MAN2B1):c.1110-1G>A
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
NM_000528.4(MAN2B1):c.1110dup
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=) rs886054231
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)
NM_000528.4(MAN2B1):c.1134C>T (p.Phe378=) rs756124107
NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)
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.1144del (p.Asp382fs)
NM_000528.4(MAN2B1):c.1148del (p.Gly383fs)
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.1156C>T (p.Gln386Ter)
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) rs1057516524
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter)
NM_000528.4(MAN2B1):c.1167C>G (p.Thr389=)
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1168G>T (p.Gly390Cys) rs864621982
NM_000528.4(MAN2B1):c.1169G>C (p.Gly390Ala)
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro) rs1479309756
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=) rs745391577
NM_000528.4(MAN2B1):c.1188G>C (p.Pro396=) rs749011134
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs) rs753695099
NM_000528.4(MAN2B1):c.1199G>A (p.Arg400His)
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1203C>T (p.Tyr401=)
NM_000528.4(MAN2B1):c.1204G>C (p.Glu402Gln)
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter)
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.1223_1224delinsAA (p.Phe408Ter)
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+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+3G>A
NM_000528.4(MAN2B1):c.1230+7A>G rs2024019411
NM_000528.4(MAN2B1):c.1230+8G>A
NM_000528.4(MAN2B1):c.1231-13C>A
NM_000528.4(MAN2B1):c.1231-13C>G
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
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.1236C>A (p.Cys412Ter)
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
NM_000528.4(MAN2B1):c.1248G>A (p.Glu416=)
NM_000528.4(MAN2B1):c.1250C>T (p.Ala417Val)
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=)
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)
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) rs2024014272
NM_000528.4(MAN2B1):c.1287C>T (p.Gly429=)
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu) rs867517934
NM_000528.4(MAN2B1):c.1299T>A (p.Ser433Arg)
NM_000528.4(MAN2B1):c.1302A>C (p.Ala434=) rs2145259880
NM_000528.4(MAN2B1):c.1308_1309+2del rs1555708282
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+1G>T rs1057516745
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.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1310-2A>G
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.1310A>G (p.Asn437Ser)
NM_000528.4(MAN2B1):c.131del (p.Ala44fs)
NM_000528.4(MAN2B1):c.1323T>C (p.Ala441=)
NM_000528.4(MAN2B1):c.1333C>T (p.His445Tyr) rs864621983
NM_000528.4(MAN2B1):c.1335T>C (p.His445=)
NM_000528.4(MAN2B1):c.135C>G (p.Ala45=) rs200413076
NM_000528.4(MAN2B1):c.141T>C (p.Ala47=)
NM_000528.4(MAN2B1):c.1420-104_1449del
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.1420-27_1420-3del
NM_000528.4(MAN2B1):c.1420-2A>G rs2145254657
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.1422TCT[1] (p.Leu476del)
NM_000528.4(MAN2B1):c.142C>G (p.Arg48Gly)
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.1450A>T (p.Arg484Ter) rs2023979174
NM_000528.4(MAN2B1):c.1454G>C (p.Gly485Ala) rs373553609
NM_000528.4(MAN2B1):c.1454G>T (p.Gly485Val)
NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)
NM_000528.4(MAN2B1):c.1455C>T (p.Gly485=)
NM_000528.4(MAN2B1):c.145dup (p.Ala49fs)
NM_000528.4(MAN2B1):c.1461A>C (p.Lys487Asn)
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.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1472C>T (p.Thr491Ile)
NM_000528.4(MAN2B1):c.1477del (p.Cys493fs)
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter) rs755508725
NM_000528.4(MAN2B1):c.1485G>A (p.Gln495=)
NM_000528.4(MAN2B1):c.1492A>G (p.Ile498Val) rs1339651416
NM_000528.4(MAN2B1):c.1494C>G (p.Ile498Met)
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
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)
NM_000528.4(MAN2B1):c.1515G>A (p.Gln505=)
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000528.4(MAN2B1):c.1517C>A (p.Thr506Lys) rs139255957
NM_000528.4(MAN2B1):c.1520C>T (p.Ala507Val)
NM_000528.4(MAN2B1):c.1521G>A (p.Ala507=)
NM_000528.4(MAN2B1):c.1524G>A (p.Ala508=)
NM_000528.4(MAN2B1):c.1525C>T (p.Arg509Cys)
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+1G>A
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1527+1G>T
NM_000528.4(MAN2B1):c.1527+20G>A
NM_000528.4(MAN2B1):c.1527+20G>T
NM_000528.4(MAN2B1):c.1527+2T>G rs2145254041
NM_000528.4(MAN2B1):c.1527+3G>C
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.1528-11del rs2145253449
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.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.1528-2A>G
NM_000528.4(MAN2B1):c.1528-5C>T rs1177088769
NM_000528.4(MAN2B1):c.1534del (p.Val512fs) rs2023968643
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.1541T>C (p.Val514Ala) rs1599349485
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter) rs2023968144
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)
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.1554G>A (p.Leu518=)
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met) rs1211189249
NM_000528.4(MAN2B1):c.1583_1599dup (p.Val534fs)
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+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.159+7G>A rs2145293824
NM_000528.4(MAN2B1):c.159+9G>C rs764391534
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp) rs2023965888
NM_000528.4(MAN2B1):c.1598G>A (p.Gly533Asp) rs2145253098
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.1606G>A (p.Val536Ile)
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs) rs2145290975
NM_000528.4(MAN2B1):c.1623T>C (p.Asn541=)
NM_000528.4(MAN2B1):c.162del (p.Cys55fs) rs2145290970
NM_000528.4(MAN2B1):c.1631C>T (p.Thr544Ile)
NM_000528.4(MAN2B1):c.1632A>G (p.Thr544=)
NM_000528.4(MAN2B1):c.1638C>T (p.Pro546=)
NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)
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.1644+4A>G rs1218254964
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.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.1660A>G (p.Ser554Gly)
NM_000528.4(MAN2B1):c.1662C>T (p.Ser554=) rs755140505
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter) rs376719984
NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala)
NM_000528.4(MAN2B1):c.1667_1670del (p.Asp556fs)
NM_000528.4(MAN2B1):c.1668C>T (p.Asp556=)
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs) rs2145290929
NM_000528.4(MAN2B1):c.1671C>T (p.Ser557=)
NM_000528.4(MAN2B1):c.1674G>A (p.Gln558=)
NM_000528.4(MAN2B1):c.1682C>A (p.Pro561His)
NM_000528.4(MAN2B1):c.1682C>G (p.Pro561Arg)
NM_000528.4(MAN2B1):c.1684C>T (p.Pro562Ser) rs1303843843
NM_000528.4(MAN2B1):c.1685C>A (p.Pro562Gln)
NM_000528.4(MAN2B1):c.168C>T (p.Pro56=)
NM_000528.4(MAN2B1):c.1694T>C (p.Leu565Pro) rs864621986
NM_000528.4(MAN2B1):c.1695G>C (p.Leu565=)
NM_000528.4(MAN2B1):c.1701A>G (p.Ser567=)
NM_000528.4(MAN2B1):c.1703C>G (p.Ala568Gly)
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)
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=)
NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)
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=)
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter) rs2023939487
NM_000528.4(MAN2B1):c.1739_1741del (p.Val580del)
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.1747G>A (p.Val583Met)
NM_000528.4(MAN2B1):c.1748T>A (p.Val583Glu) rs2145250358
NM_000528.4(MAN2B1):c.1753C>G (p.Arg585Gly)
NM_000528.4(MAN2B1):c.1754G>T (p.Arg585Leu) rs1374305848
NM_000528.4(MAN2B1):c.1770C>T (p.Ala590=)
NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys)
NM_000528.4(MAN2B1):c.1772G>A (p.Arg591His)
NM_000528.4(MAN2B1):c.1773C>T (p.Arg591=) rs987054644
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn) rs769653813
NM_000528.4(MAN2B1):c.1787T>G (p.Ile596Ser)
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.1795A>T (p.Arg599Ter)
NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)
NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr)
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs) rs2145250113
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter) rs2145250103
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter) rs1224319934
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+3G>A
NM_000528.4(MAN2B1):c.1830+3G>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.1837C>T (p.Arg613Trp)
NM_000528.4(MAN2B1):c.1839G>A (p.Arg613=)
NM_000528.4(MAN2B1):c.183C>T (p.Asn61=) rs2145290875
NM_000528.4(MAN2B1):c.1844C>T (p.Thr615Met)
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs)
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
NM_000528.4(MAN2B1):c.1863G>T (p.Gly621=) rs2145240167
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.1889delinsCAC (p.Asn630fs)
NM_000528.4(MAN2B1):c.1896A>G (p.Gln632=) rs1355122862
NM_000528.4(MAN2B1):c.1899C>T (p.Leu633=) rs759584931
NM_000528.4(MAN2B1):c.1902G>A (p.Leu634=) rs2145240022
NM_000528.4(MAN2B1):c.1903C>T (p.Leu635=)
NM_000528.4(MAN2B1):c.1908T>G (p.Pro636=) rs2145239992
NM_000528.4(MAN2B1):c.1912C>T (p.Arg638Cys)
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro) rs146725928
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.1917G>C (p.Gln639His)
NM_000528.4(MAN2B1):c.1919C>A (p.Thr640Asn)
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del) rs779241409
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.1928G>A (p.Trp643Ter) rs1599344532
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.1929-2A>G rs2023856348
NM_000528.4(MAN2B1):c.1929-2A>T
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.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.192C>T (p.Asn64=)
NM_000528.4(MAN2B1):c.1932C>T (p.Tyr644=) rs2145239589
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del) rs1599344435
NM_000528.4(MAN2B1):c.1936G>A (p.Ala646Thr)
NM_000528.4(MAN2B1):c.1950C>T (p.Asp650=)
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.195G>T (p.Val65=)
NM_000528.4(MAN2B1):c.1960G>T (p.Asp654Tyr) rs932247520
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter) rs2023854692
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.1971A>C (p.Ser657=)
NM_000528.4(MAN2B1):c.1974T>C (p.Gly658=)
NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)
NM_000528.4(MAN2B1):c.1993A>C (p.Asn665His) rs2023853658
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter)
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter) rs2023853280
NM_000528.4(MAN2B1):c.2004A>G (p.Lys668=) rs750566481
NM_000528.4(MAN2B1):c.2006C>G (p.Pro669Arg)
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.2014G>C (p.Val672Leu)
NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)
NM_000528.4(MAN2B1):c.2021G>A (p.Arg674His)
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter) rs2023852354
NM_000528.4(MAN2B1):c.2036A>G (p.His679Arg)
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter) rs2023851530
NM_000528.4(MAN2B1):c.2046+12G>A
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2046+6G>T rs748175413
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.2047-1G>A rs1057517166
NM_000528.4(MAN2B1):c.2047-6C>T
NM_000528.4(MAN2B1):c.2047-7C>T
NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr) rs2023810273
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.2071C>T (p.Gln691Ter) rs2023809731
NM_000528.4(MAN2B1):c.2076C>T (p.Asn692=)
NM_000528.4(MAN2B1):c.2085T>C (p.Ala695=) rs2145233462
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter) rs2023809176
NM_000528.4(MAN2B1):c.2097G>A (p.Gln699=)
NM_000528.4(MAN2B1):c.2097G>C (p.Gln699His)
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.2113_2114delinsTA (p.Pro705Ter)
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.2117_2121dup (p.Arg708fs)
NM_000528.4(MAN2B1):c.2121G>A (p.Gln707=)
NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp)
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs) rs2145290731
NM_000528.4(MAN2B1):c.2133G>A (p.Glu711=)
NM_000528.4(MAN2B1):c.2144C>T (p.Ser715Leu)
NM_000528.4(MAN2B1):c.2147T>A (p.Val716Glu)
NM_000528.4(MAN2B1):c.2148G>A (p.Val716=)
NM_000528.4(MAN2B1):c.2152_2165+1dup
NM_000528.4(MAN2B1):c.2154G>A (p.Pro718=)
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+1del rs1555706752
NM_000528.4(MAN2B1):c.2165+20A>G
NM_000528.4(MAN2B1):c.2166-10T>C rs2145232830
NM_000528.4(MAN2B1):c.2166-10_2166-2del rs1555706734
NM_000528.4(MAN2B1):c.2166-2A>G rs2145232776
NM_000528.4(MAN2B1):c.2166-8G>T
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.2176G>A (p.Gly726Arg)
NM_000528.4(MAN2B1):c.2180A>G (p.Lys727Arg)
NM_000528.4(MAN2B1):c.2181G>C (p.Lys727Asn)
NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)
NM_000528.4(MAN2B1):c.219T>C (p.Asp73=)
NM_000528.4(MAN2B1):c.2202C>T (p.Asp734=)
NM_000528.4(MAN2B1):c.2206C>A (p.Pro736Thr)
NM_000528.4(MAN2B1):c.2209C>T (p.Leu737=)
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2220G>A (p.Lys740=) rs1599341929
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
NM_000528.4(MAN2B1):c.2224C>T (p.Arg742Cys)
NM_000528.4(MAN2B1):c.222C>T (p.Asp74=) rs746702002
NM_000528.4(MAN2B1):c.2234C>G (p.Thr745Arg) rs864621987
NM_000528.4(MAN2B1):c.2237_2240del (p.Asp746fs)
NM_000528.4(MAN2B1):c.223G>C (p.Val75Leu)
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.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+5G>A
NM_000528.4(MAN2B1):c.2267+8G>T rs1599341786
NM_000528.4(MAN2B1):c.2267+8del
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.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.2268-20C>G
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
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.2272del (p.Asp758fs) rs2023782686
NM_000528.4(MAN2B1):c.2278C>A (p.Arg760=)
NM_000528.4(MAN2B1):c.2278C>G (p.Arg760Gly) rs121434331
NM_000528.4(MAN2B1):c.2279G>C (p.Arg760Pro)
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)
NM_000528.4(MAN2B1):c.227G>A (p.Gly76Asp)
NM_000528.4(MAN2B1):c.2282C>G (p.Pro761Arg)
NM_000528.4(MAN2B1):c.2285C>T (p.Thr762Ile)
NM_000528.4(MAN2B1):c.2286C>G (p.Thr762=) rs1329977611
NM_000528.4(MAN2B1):c.2289_2295dup (p.Asn766fs)
NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)
NM_000528.4(MAN2B1):c.2295G>A (p.Leu765=)
NM_000528.4(MAN2B1):c.2300_2301insAA (p.Thr768fs)
NM_000528.4(MAN2B1):c.2306A>G (p.Glu769Gly)
NM_000528.4(MAN2B1):c.2309C>T (p.Pro770Leu)
NM_000528.4(MAN2B1):c.2310C>G (p.Pro770=)
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.2329C>T (p.Pro777Ser) rs1599340883
NM_000528.4(MAN2B1):c.2331A>G (p.Pro777=)
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro) rs1387086908
NM_000528.4(MAN2B1):c.2340C>T (p.Thr780=)
NM_000528.4(MAN2B1):c.2342G>A (p.Arg781Gln)
NM_000528.4(MAN2B1):c.2354C>T (p.Thr785Met)
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+20C>T
NM_000528.4(MAN2B1):c.2355+33C>T rs374660827
NM_000528.4(MAN2B1):c.2355+6T>C
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.2355G>A (p.Thr785=) rs1008745697
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.2356-2A>G rs1064793936
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.237_238del (p.Lys79fs) rs2145290586
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.2390G>A (p.Arg797His)
NM_000528.4(MAN2B1):c.2390G>T (p.Arg797Leu) rs750957781
NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)
NM_000528.4(MAN2B1):c.2397G>A (p.Gln799=)
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>T (p.Gly800Trp) rs398123456
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
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=)
NM_000528.4(MAN2B1):c.241del (p.Val81fs)
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+1G>A rs200036864
NM_000528.4(MAN2B1):c.2436+5G>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.2437-2A>C
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
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.2445_2447delinsT (p.Arg816fs)
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.2467C>T (p.Arg823Cys) rs746805353
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=)
NM_000528.4(MAN2B1):c.2479G>C (p.Glu827Gln)
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Pro828_Leu829insLysPro) rs1555706406
NM_000528.4(MAN2B1):c.2487A>C (p.Leu829=)
NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg) rs144244650
NM_000528.4(MAN2B1):c.2500T>C (p.Ser834Pro)
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)
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs) rs2145225515
NM_000528.4(MAN2B1):c.2514G>A (p.Val838=)
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter) rs1291147781
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)
NM_000528.4(MAN2B1):c.2524C>T (p.His842Tyr)
NM_000528.4(MAN2B1):c.2529G>A (p.Leu843=) rs2145225369
NM_000528.4(MAN2B1):c.2529G>C (p.Leu843=)
NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter)
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.2544_2568dup (p.Arg857fs)
NM_000528.4(MAN2B1):c.2555C>T (p.Ala852Val)
NM_000528.4(MAN2B1):c.2555_2586del (p.Ala852fs)
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
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.2559_2575del (p.Ala854fs) rs2023745479
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.256dup (p.Tyr86fs) rs2024217430
NM_000528.4(MAN2B1):c.2571G>T (p.Arg857=) rs2145225130
NM_000528.4(MAN2B1):c.2572C>T (p.Leu858Phe)
NM_000528.4(MAN2B1):c.2574C>T (p.Leu858=)
NM_000528.4(MAN2B1):c.2577G>A (p.Leu859=)
NM_000528.4(MAN2B1):c.2579C>T (p.Ala860Val)
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.2590G>A (p.Val864Ile)
NM_000528.4(MAN2B1):c.2592C>T (p.Val864=) rs2145224964
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
NM_000528.4(MAN2B1):c.259G>A (p.Gly87Arg)
NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)
NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)
NM_000528.4(MAN2B1):c.2604_2605del (p.Gln868fs)
NM_000528.4(MAN2B1):c.2605G>A (p.Val869Met)
NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)
NM_000528.4(MAN2B1):c.2618C>A (p.Pro873Gln) rs752022224
NM_000528.4(MAN2B1):c.2618C>T (p.Pro873Leu)
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+17del
NM_000528.4(MAN2B1):c.262+19C>G
NM_000528.4(MAN2B1):c.262+1G>C rs2145290458
NM_000528.4(MAN2B1):c.262+2T>C
NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)
NM_000528.4(MAN2B1):c.2626G>A (p.Gly876Ser)
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.263-1G>A
NM_000528.4(MAN2B1):c.263-20C>T
NM_000528.4(MAN2B1):c.263-2A>C
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.2636_2637insTCCCAACT (p.Asn880fs)
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=)
NM_000528.4(MAN2B1):c.2655G>T (p.Pro885=)
NM_000528.4(MAN2B1):c.2657G>A (p.Arg886His)
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.2665-165G>C rs2145222928
NM_000528.4(MAN2B1):c.2665-16G>A
NM_000528.4(MAN2B1):c.2665-17C>T
NM_000528.4(MAN2B1):c.2665-17del
NM_000528.4(MAN2B1):c.2665-19C>G
NM_000528.4(MAN2B1):c.2665-19C>T
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2665-20C>G
NM_000528.4(MAN2B1):c.2665-20C>T
NM_000528.4(MAN2B1):c.2665-28_2665-9del
NM_000528.4(MAN2B1):c.2665-2A>G
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.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs) rs1599338484
NM_000528.4(MAN2B1):c.2673G>A (p.Gly891=)
NM_000528.4(MAN2B1):c.2674C>A (p.Leu892Met)
NM_000528.4(MAN2B1):c.2674C>T (p.Leu892=)
NM_000528.4(MAN2B1):c.2675T>C (p.Leu892Pro) rs864621989
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.2752G>T (p.Glu918Ter) rs2023718817
NM_000528.4(MAN2B1):c.2758C>G (p.Gln920Glu)
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
NM_000528.4(MAN2B1):c.2760G>A (p.Gln920=)
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.2778_2781dup (p.Gly928fs)
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
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>G (p.Ser932Arg) rs1403072896
NM_000528.4(MAN2B1):c.2796C>T (p.Ser932=)
NM_000528.4(MAN2B1):c.2797G>A (p.Ala933Thr)
NM_000528.4(MAN2B1):c.2799C>T (p.Ala933=) rs2145221244
NM_000528.4(MAN2B1):c.2802C>G (p.Pro934=)
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=)
NM_000528.4(MAN2B1):c.2817G>A (p.Leu939=)
NM_000528.4(MAN2B1):c.2818A>C (p.Arg940=)
NM_000528.4(MAN2B1):c.281A>G (p.His94Arg)
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.2821-2A>G
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.282C>A (p.His94Gln)
NM_000528.4(MAN2B1):c.2835C>T (p.Thr945=)
NM_000528.4(MAN2B1):c.283G>C (p.Ala95Pro) rs754036398
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.2849G>C (p.Arg950Pro) rs139041112
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.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)
NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg) rs2023711115
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=) rs1376771729
NM_000528.4(MAN2B1):c.2885G>C (p.Arg962Pro)
NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs)
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=)
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.2903T>C (p.Leu968Pro)
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.2917_2923+1dup
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
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+19dup
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.2927C>G (p.Pro976Arg)
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu) rs766559062
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=)
NM_000528.4(MAN2B1):c.293A>C (p.Gln98Pro)
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs) rs1735642901
NM_000528.4(MAN2B1):c.2952G>A (p.Gln984=) rs762355600
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His) rs794727484
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.2970del (p.Thr991fs)
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.2992C>T (p.Arg998Cys)
NM_000528.4(MAN2B1):c.2994C>T (p.Arg998=) rs2023694655
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.3000C>T (p.Phe1000=)
NM_000528.4(MAN2B1):c.3002T>C (p.Leu1001Pro)
NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)
NM_000528.4(MAN2B1):c.3009A>G (p.Ser1003=)
NM_000528.4(MAN2B1):c.300C>T (p.Ile100=)
NM_000528.4(MAN2B1):c.3013C>T (p.Gln1005Ter)
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.312C>T (p.Val104=)
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=)
NM_000528.4(MAN2B1):c.340C>T (p.Arg114Cys)
NM_000528.4(MAN2B1):c.343dup (p.Arg115fs)
NM_000528.4(MAN2B1):c.352T>G (p.Tyr118Asp)
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys) rs2024208039
NM_000528.4(MAN2B1):c.360G>A (p.Glu120=) rs2145289378
NM_000528.4(MAN2B1):c.366C>T (p.Ala122=)
NM_000528.4(MAN2B1):c.376C>T (p.Arg126Cys)
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter) rs1555709972
NM_000528.4(MAN2B1):c.387C>T (p.His129=)
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter) rs1366682636
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)
NM_000528.4(MAN2B1):c.414del (p.Val139fs)
NM_000528.4(MAN2B1):c.415G>A (p.Val139Met)
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)
NM_000528.4(MAN2B1):c.426T>C (p.Leu142=)
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.427G>A (p.Val143Met)
NM_000528.4(MAN2B1):c.429G>A (p.Val143=) rs2145288992
NM_000528.4(MAN2B1):c.430C>T (p.Arg144Cys)
NM_000528.4(MAN2B1):c.431G>A (p.Arg144His)
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.437-1G>A
NM_000528.4(MAN2B1):c.437-1dup rs1160557969
NM_000528.4(MAN2B1):c.437-20C>T
NM_000528.4(MAN2B1):c.437-2A>G
NM_000528.4(MAN2B1):c.437-2del
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.440del (p.Arg147fs)
NM_000528.4(MAN2B1):c.446del (p.Glu149fs) rs1057516682
NM_000528.4(MAN2B1):c.447G>A (p.Glu149=)
NM_000528.4(MAN2B1):c.451G>A (p.Ala151Thr)
NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)
NM_000528.4(MAN2B1):c.461G>A (p.Gly154Asp)
NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter)
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)
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)
NM_000528.4(MAN2B1):c.504C>T (p.Ile168=) rs769374044
NM_000528.4(MAN2B1):c.510C>T (p.Asp170=)
NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter)
NM_000528.4(MAN2B1):c.522del (p.Leu176fs)
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.545C>T (p.Thr182Ile)
NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser)
NM_000528.4(MAN2B1):c.561del (p.Arg188fs) rs770297337
NM_000528.4(MAN2B1):c.582C>T (p.His194=) rs1424705311
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu) rs864621978
NM_000528.4(MAN2B1):c.603_604del (p.Arg202fs)
NM_000528.4(MAN2B1):c.603_604dup (p.Arg202fs)
NM_000528.4(MAN2B1):c.604C>A (p.Arg202=)
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000528.4(MAN2B1):c.609G>A (p.Glu203=) rs139290127
NM_000528.4(MAN2B1):c.619C>T (p.Leu207=)
NM_000528.4(MAN2B1):c.624T>C (p.Phe208=) rs374524357
NM_000528.4(MAN2B1):c.624dup (p.Ala209fs)
NM_000528.4(MAN2B1):c.627G>C (p.Ala209=)
NM_000528.4(MAN2B1):c.627_630+1dup rs2145286437
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)
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+5G>A
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.631-2A>C
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>G (p.Phe213Leu)
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.640G>A (p.Asp214Asn)
NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)
NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)
NM_000528.4(MAN2B1):c.658C>T (p.Arg220Cys)
NM_000528.4(MAN2B1):c.660C>T (p.Arg220=) rs2145283213
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly)
NM_000528.4(MAN2B1):c.666T>C (p.Asp222=)
NM_000528.4(MAN2B1):c.670_671del (p.Gln224fs)
NM_000528.4(MAN2B1):c.671A>G (p.Gln224Arg)
NM_000528.4(MAN2B1):c.673G>C (p.Asp225His) rs2024165338
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)
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=)
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.739_740insTAAAGAT (p.Pro247fs)
NM_000528.4(MAN2B1):c.743C>G (p.Pro248Arg) rs117843968
NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr)
NM_000528.4(MAN2B1):c.749C>T (p.Ala250Val)
NM_000528.4(MAN2B1):c.750G>A (p.Ala250=)
NM_000528.4(MAN2B1):c.752A>T (p.Asp251Val)
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=) rs2024162767
NM_000528.4(MAN2B1):c.763+12G>C
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.763+9C>A
NM_000528.4(MAN2B1):c.763G>C (p.Gly255Arg)
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.764-1G>C rs1555709533
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.776A>G (p.Asn259Ser)
NM_000528.4(MAN2B1):c.777T>G (p.Asn259Lys)
NM_000528.4(MAN2B1):c.779G>T (p.Gly260Val)
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.784_786del (p.Asn262del) rs1555709511
NM_000528.4(MAN2B1):c.787C>T (p.Pro263Ser)
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.807G>A (p.Trp269Ter) rs1329771201
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.836T>C (p.Val279Ala)
NM_000528.4(MAN2B1):c.838G>A (p.Glu280Lys)
NM_000528.4(MAN2B1):c.847C>T (p.Arg283Cys)
NM_000528.4(MAN2B1):c.848G>A (p.Arg283His)
NM_000528.4(MAN2B1):c.852C>T (p.Ser284=)
NM_000528.4(MAN2B1):c.855C>G (p.Pro285=) rs139218045
NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)
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.872_875dup (p.Val293fs)
NM_000528.4(MAN2B1):c.879C>A (p.Val293=) rs746756800
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn) rs973412688
NM_000528.4(MAN2B1):c.885C>T (p.Tyr295=)
NM_000528.4(MAN2B1):c.888C>T (p.Phe296=) rs1599356803
NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys)
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs) rs2024151949
NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)
NM_000528.4(MAN2B1):c.901A>G (p.Thr301Ala)
NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser)
NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val)
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+1G>C
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.910G>A (p.Gly304Ser) rs2024102051
NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp) rs202100368
NM_000528.4(MAN2B1):c.915G>A (p.Arg305=) rs755994517
NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)
NM_000528.4(MAN2B1):c.924C>A (p.Arg308=)
NM_000528.4(MAN2B1):c.924C>T (p.Arg308=) rs1168829518
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000528.4(MAN2B1):c.939G>T (p.Val313=) rs942342696
NM_000528.4(MAN2B1):c.940A>T (p.Met314Leu)
NM_000528.4(MAN2B1):c.951C>T (p.Gly317=)
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter) rs774034389
NM_000528.4(MAN2B1):c.954G>A (p.Ser318=)
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.965_966del (p.Gln321_Tyr322insTer) rs778131120
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
NM_000528.4(MAN2B1):c.972T>C (p.Asn324=)
NM_000528.4(MAN2B1):c.975C>T (p.Ala325=)
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)
NM_000528.4(MAN2B1):c.99G>C (p.Pro33=)

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