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.215_216del (p.His72fs)
|
rs2145290706
|
|
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)
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NM_000528.4(MAN2B1):c.838G>A (p.Glu280Lys)
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NM_000528.4(MAN2B1):c.847C>T (p.Arg283Cys)
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NM_000528.4(MAN2B1):c.848G>A (p.Arg283His)
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NM_000528.4(MAN2B1):c.852C>T (p.Ser284=)
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NM_000528.4(MAN2B1):c.855C>G (p.Pro285=)
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rs139218045
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NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)
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NM_000528.4(MAN2B1):c.861C>T (p.Tyr287=)
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rs1280139624
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NM_000528.4(MAN2B1):c.867C>T (p.Ala289=)
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rs2145281259
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NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)
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NM_000528.4(MAN2B1):c.879C>A (p.Val293=)
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rs746756800
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NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn)
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rs973412688
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NM_000528.4(MAN2B1):c.885C>T (p.Tyr295=)
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NM_000528.4(MAN2B1):c.888C>T (p.Phe296=)
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rs1599356803
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NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys)
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NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)
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rs2024151949
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NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)
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NM_000528.4(MAN2B1):c.901A>G (p.Thr301Ala)
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NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser)
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NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val)
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NM_000528.4(MAN2B1):c.909+10del
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rs1568306887
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NM_000528.4(MAN2B1):c.909+12G>A
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NM_000528.4(MAN2B1):c.909+15C>T
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NM_000528.4(MAN2B1):c.909+1G>C
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NM_000528.4(MAN2B1):c.909+20C>A
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NM_000528.4(MAN2B1):c.910-10T>C
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rs2145273578
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NM_000528.4(MAN2B1):c.910-10T>G
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rs2145273578
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NM_000528.4(MAN2B1):c.910-13C>G
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NM_000528.4(MAN2B1):c.910-13C>T
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NM_000528.4(MAN2B1):c.910-14C>T
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NM_000528.4(MAN2B1):c.910-15C>A
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NM_000528.4(MAN2B1):c.910-15C>G
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NM_000528.4(MAN2B1):c.910-16C>T
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NM_000528.4(MAN2B1):c.910-4G>T
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rs1384001200
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NM_000528.4(MAN2B1):c.910-6C>T
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NM_000528.4(MAN2B1):c.910-7C>T
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rs2145273567
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NM_000528.4(MAN2B1):c.910-8G>C
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rs2145273572
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NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser)
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rs2024102051
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NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp)
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rs202100368
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NM_000528.4(MAN2B1):c.915G>A (p.Arg305=)
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rs755994517
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NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)
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NM_000528.4(MAN2B1):c.924C>A (p.Arg308=)
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NM_000528.4(MAN2B1):c.924C>T (p.Arg308=)
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rs1168829518
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NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)
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rs1054487
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NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
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rs1054487
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NM_000528.4(MAN2B1):c.939G>T (p.Val313=)
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rs942342696
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NM_000528.4(MAN2B1):c.940A>T (p.Met314Leu)
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NM_000528.4(MAN2B1):c.951C>T (p.Gly317=)
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NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)
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rs774034389
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NM_000528.4(MAN2B1):c.954G>A (p.Ser318=)
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NM_000528.4(MAN2B1):c.955G>C (p.Asp319His)
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rs1251243232
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NM_000528.4(MAN2B1):c.956A>G (p.Asp319Gly)
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rs1222864490
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NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer)
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rs778131120
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NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
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NM_000528.4(MAN2B1):c.972T>C (p.Asn324=)
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NM_000528.4(MAN2B1):c.975C>T (p.Ala325=)
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NM_000528.4(MAN2B1):c.979_980del (p.Met327fs)
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rs2145272932
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NM_000528.4(MAN2B1):c.981G>T (p.Met327Ile)
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rs2145272922
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NM_000528.4(MAN2B1):c.993C>T (p.Asn331=)
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rs2145272833
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NM_000528.4(MAN2B1):c.997G>C (p.Asp333His)
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NM_000528.4(MAN2B1):c.99G>C (p.Pro33=)
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