NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=)
|
rs4880091
|
0.80826
|
NM_016219.5(MAN1B1):c.*384A>G
|
rs4567
|
0.49708
|
NM_016219.5(MAN1B1):c.1765-5C>A
|
rs12115325
|
0.25976
|
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=)
|
rs118117962
|
0.02913
|
NM_016219.5(MAN1B1):c.*157C>G
|
rs61545361
|
0.02001
|
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu)
|
rs61744585
|
0.01884
|
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu)
|
rs73569515
|
0.01096
|
NM_016219.5(MAN1B1):c.1255-5C>T
|
rs73569532
|
0.01076
|
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly)
|
rs115335100
|
0.00943
|
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)
|
rs34355967
|
0.00892
|
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=)
|
rs113472164
|
0.00639
|
NM_016219.5(MAN1B1):c.*223G>A
|
rs141959719
|
0.00488
|
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=)
|
rs140105878
|
0.00457
|
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg)
|
rs75639549
|
0.00445
|
NM_016219.5(MAN1B1):c.1566+14C>T
|
rs201606936
|
0.00440
|
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=)
|
rs12000048
|
0.00411
|
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
|
rs114057640
|
0.00392
|
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=)
|
rs142928152
|
0.00371
|
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=)
|
rs114484315
|
0.00344
|
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=)
|
rs113389928
|
0.00340
|
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=)
|
rs75234317
|
0.00330
|
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=)
|
rs115889896
|
0.00329
|
NM_016219.5(MAN1B1):c.1896+7A>G
|
rs143544706
|
0.00329
|
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=)
|
rs77684216
|
0.00327
|
NM_016219.5(MAN1B1):c.220-20A>C
|
rs116149955
|
0.00326
|
NM_016219.5(MAN1B1):c.1897-12G>A
|
rs76740252
|
0.00322
|
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln)
|
rs149339002
|
0.00309
|
NM_016219.5(MAN1B1):c.1065+16T>A
|
rs200957986
|
0.00303
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=)
|
rs138435910
|
0.00230
|
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=)
|
rs141112920
|
0.00215
|
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=)
|
rs144271949
|
0.00210
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
NM_016219.5(MAN1B1):c.*393A>G
|
rs575316488
|
0.00170
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=)
|
rs140496149
|
0.00148
|
NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val)
|
rs138411911
|
0.00135
|
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)
|
rs147529965
|
0.00135
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)
|
rs147577332
|
0.00118
|
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His)
|
rs145477274
|
0.00085
|
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=)
|
rs144304981
|
0.00083
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
NM_016219.5(MAN1B1):c.1765-17C>T
|
rs569907992
|
0.00064
|
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys)
|
rs142406504
|
0.00046
|
NM_016219.5(MAN1B1):c.1287C>T (p.His429=)
|
rs145524720
|
0.00038
|
NM_016219.5(MAN1B1):c.*292G>A
|
rs145815566
|
0.00034
|
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
|
rs200428790
|
0.00029
|
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=)
|
rs112434939
|
0.00026
|
NM_016219.5(MAN1B1):c.862G>A (p.Gly288Ser)
|
rs138090529
|
0.00026
|
NM_016219.5(MAN1B1):c.1445+19C>T
|
rs374413288
|
0.00024
|
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val)
|
rs144767615
|
0.00024
|
NM_016219.5(MAN1B1):c.*553A>G
|
rs754678273
|
0.00016
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
NM_016219.5(MAN1B1):c.2091C>G (p.Thr697=)
|
rs749762302
|
0.00016
|
NM_016219.5(MAN1B1):c.514C>T (p.Pro172Ser)
|
rs142144025
|
0.00016
|
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)
|
rs200410163
|
0.00015
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)
|
rs374247020
|
0.00014
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser)
|
rs768668950
|
0.00013
|
NM_016219.5(MAN1B1):c.1674G>A (p.Gln558=)
|
rs374793603
|
0.00012
|
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
|
rs374963946
|
0.00012
|
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)
|
rs145906530
|
0.00012
|
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val)
|
rs144672735
|
0.00011
|
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys)
|
rs373430024
|
0.00011
|
NM_016219.5(MAN1B1):c.1011G>C (p.Gly337=)
|
rs142836717
|
0.00009
|
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met)
|
rs150734795
|
0.00009
|
NM_016219.5(MAN1B1):c.621-5C>T
|
rs200585294
|
0.00009
|
NM_016219.5(MAN1B1):c.731-4C>T
|
rs368940533
|
0.00009
|
NM_016219.5(MAN1B1):c.1738C>G (p.Pro580Ala)
|
rs200860565
|
0.00008
|
NM_016219.5(MAN1B1):c.1065+11T>C
|
rs200147487
|
0.00007
|
NM_016219.5(MAN1B1):c.711C>T (p.Ala237=)
|
rs781675627
|
0.00007
|
NM_016219.5(MAN1B1):c.*113G>A
|
rs762819985
|
0.00006
|
NM_016219.5(MAN1B1):c.*86C>T
|
rs771691552
|
0.00006
|
NM_016219.5(MAN1B1):c.1236A>G (p.Thr412=)
|
rs754708614
|
0.00006
|
NM_016219.5(MAN1B1):c.1299G>C (p.Gly433=)
|
rs201942029
|
0.00006
|
NM_016219.5(MAN1B1):c.1445+10G>A
|
rs200441545
|
0.00006
|
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser)
|
rs375378489
|
0.00006
|
NM_016219.5(MAN1B1):c.1765-9C>T
|
rs977693376
|
0.00006
|
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile)
|
rs143449562
|
0.00006
|
NM_016219.5(MAN1B1):c.874A>G (p.Ile292Val)
|
rs573043401
|
0.00006
|
NM_016219.5(MAN1B1):c.*185T>G
|
rs137960366
|
0.00005
|
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)
|
rs387906886
|
0.00005
|
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile)
|
rs199561708
|
0.00005
|
NM_016219.5(MAN1B1):c.*191G>A
|
rs1035235945
|
0.00004
|
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala)
|
rs369551783
|
0.00004
|
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val)
|
rs752395239
|
0.00004
|
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys)
|
rs757690679
|
0.00004
|
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)
|
rs372125925
|
0.00004
|
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=)
|
rs558619741
|
0.00004
|
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala)
|
rs575503145
|
0.00004
|
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)
|
rs199738190
|
0.00004
|
NM_016219.5(MAN1B1):c.620+9C>T
|
rs535697514
|
0.00004
|
NM_016219.5(MAN1B1):c.731-6del
|
rs762904705
|
0.00004
|
NM_016219.5(MAN1B1):c.*62A>G
|
rs963031485
|
0.00003
|
NM_016219.5(MAN1B1):c.1461C>T (p.Tyr487=)
|
rs373672617
|
0.00003
|
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile)
|
rs763074368
|
0.00003
|
NM_016219.5(MAN1B1):c.1681C>T (p.Arg561Trp)
|
rs772165357
|
0.00003
|
NM_016219.5(MAN1B1):c.1827C>T (p.Arg609=)
|
rs201933207
|
0.00003
|
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)
|
rs1382373816
|
0.00003
|
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln)
|
rs368503703
|
0.00003
|
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys)
|
rs748988185
|
0.00003
|
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln)
|
rs765008747
|
0.00003
|
NM_016219.5(MAN1B1):c.708G>A (p.Pro236=)
|
rs536127999
|
0.00003
|
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)
|
rs777042053
|
0.00003
|
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn)
|
rs376305905
|
0.00003
|
NM_016219.5(MAN1B1):c.*259G>A
|
rs886063732
|
0.00002
|
NM_016219.5(MAN1B1):c.*489G>A
|
rs572418621
|
0.00002
|
NM_016219.5(MAN1B1):c.1255-13C>T
|
rs765403325
|
0.00002
|
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser)
|
rs760557104
|
0.00002
|
NM_016219.5(MAN1B1):c.2056T>C (p.Phe686Leu)
|
rs754917525
|
0.00002
|
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=)
|
rs779234844
|
0.00002
|
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)
|
rs564784943
|
0.00002
|
NM_016219.5(MAN1B1):c.699C>T (p.Pro233=)
|
rs764332216
|
0.00002
|
NM_016219.5(MAN1B1):c.756C>T (p.Gly252=)
|
rs752442068
|
0.00002
|
NM_016219.5(MAN1B1):c.776A>G (p.His259Arg)
|
rs201673635
|
0.00002
|
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)
|
rs202157161
|
0.00002
|
NM_016219.5(MAN1B1):c.*389C>G
|
rs1489403973
|
0.00001
|
NM_016219.5(MAN1B1):c.*404T>C
|
rs759863657
|
0.00001
|
NM_016219.5(MAN1B1):c.*587C>G
|
rs946716926
|
0.00001
|
NM_016219.5(MAN1B1):c.1001G>A (p.Arg334His)
|
rs1476136894
|
0.00001
|
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr)
|
rs184782012
|
0.00001
|
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=)
|
rs776601946
|
0.00001
|
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
|
rs387906885
|
0.00001
|
NM_016219.5(MAN1B1):c.1216C>T (p.Arg406Trp)
|
rs1037141680
|
0.00001
|
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=)
|
rs751469511
|
0.00001
|
NM_016219.5(MAN1B1):c.1565T>C (p.Met522Thr)
|
rs764475116
|
0.00001
|
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=)
|
rs754107444
|
0.00001
|
NM_016219.5(MAN1B1):c.1687A>G (p.Met563Val)
|
rs770987752
|
0.00001
|
NM_016219.5(MAN1B1):c.1765-20G>C
|
rs1225685090
|
0.00001
|
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg)
|
rs776114448
|
0.00001
|
NM_016219.5(MAN1B1):c.1897-10T>C
|
rs1831193942
|
0.00001
|
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe)
|
rs777270726
|
0.00001
|
NM_016219.5(MAN1B1):c.1929T>C (p.Asn643=)
|
rs771302082
|
0.00001
|
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter)
|
rs1164484724
|
0.00001
|
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys)
|
rs756140103
|
0.00001
|
NM_016219.5(MAN1B1):c.1992G>A (p.Thr664=)
|
rs747239978
|
0.00001
|
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=)
|
rs150436630
|
0.00001
|
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=)
|
rs746212127
|
0.00001
|
NM_016219.5(MAN1B1):c.2083A>G (p.Ile695Val)
|
rs963979748
|
0.00001
|
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala)
|
rs763520482
|
0.00001
|
NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile)
|
rs763744643
|
0.00001
|
NM_016219.5(MAN1B1):c.466-12A>G
|
rs760066464
|
0.00001
|
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter)
|
rs1207589187
|
0.00001
|
NM_016219.5(MAN1B1):c.561A>C (p.Lys187Asn)
|
rs534967836
|
0.00001
|
NM_016219.5(MAN1B1):c.621-4G>A
|
rs747603982
|
0.00001
|
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=)
|
rs1430903884
|
0.00001
|
NM_016219.5(MAN1B1):c.705A>G (p.Pro235=)
|
rs1342800552
|
0.00001
|
NM_016219.5(MAN1B1):c.731-9C>G
|
rs762958294
|
0.00001
|
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=)
|
rs151136979
|
0.00001
|
NM_016219.5(MAN1B1):c.858C>T (p.Gly286=)
|
rs1830758562
|
0.00001
|
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)
|
rs750236367
|
0.00001
|
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp)
|
rs777884272
|
0.00001
|
NC_000009.11:g.(?_139981452)_(139983477_?)del
|
|
|
NC_000009.11:g.(?_140000557)_(140003043_?)dup
|
|
|
NM_016219.5(MAN1B1):c.*258C>T
|
rs755189897
|
|
NM_016219.5(MAN1B1):c.*470C>T
|
rs558804715
|
|
NM_016219.5(MAN1B1):c.*498G>C
|
rs886063734
|
|
NM_016219.5(MAN1B1):c.1011G>A (p.Gly337=)
|
|
|
NM_016219.5(MAN1B1):c.1013G>C (p.Gly338Ala)
|
|
|
NM_016219.5(MAN1B1):c.1013G>T (p.Gly338Val)
|
|
|
NM_016219.5(MAN1B1):c.1020G>T (p.Leu340=)
|
|
|
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys)
|
rs1038179177
|
|
NM_016219.5(MAN1B1):c.1029C>T (p.Tyr343=)
|
|
|
NM_016219.5(MAN1B1):c.1050C>G (p.Leu350=)
|
|
|
NM_016219.5(MAN1B1):c.1062A>C (p.Lys354Asn)
|
rs756197449
|
|
NM_016219.5(MAN1B1):c.1066-10C>T
|
|
|
NM_016219.5(MAN1B1):c.1066-15C>G
|
|
|
NM_016219.5(MAN1B1):c.1066-18A>G
|
|
|
NM_016219.5(MAN1B1):c.1066-18A>T
|
|
|
NM_016219.5(MAN1B1):c.1071T>A (p.Asp357Glu)
|
|
|
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
|
|
|
NM_016219.5(MAN1B1):c.1084C>T (p.Leu362=)
|
|
|
NM_016219.5(MAN1B1):c.1091C>A (p.Pro364His)
|
|
|
NM_016219.5(MAN1B1):c.1137C>T (p.Ile379=)
|
|
|
NM_016219.5(MAN1B1):c.1157C>T (p.Pro386Leu)
|
|
|
NM_016219.5(MAN1B1):c.1194G>A (p.Val398=)
|
rs2131023045
|
|
NM_016219.5(MAN1B1):c.1217G>A (p.Arg406Gln)
|
|
|
NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro)
|
rs1158130828
|
|
NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)
|
|
|
NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)
|
|
|
NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)
|
|
|
NM_016219.5(MAN1B1):c.1254+13G>C
|
|
|
NM_016219.5(MAN1B1):c.1254+14C>T
|
|
|
NM_016219.5(MAN1B1):c.1254+15T>C
|
|
|
NM_016219.5(MAN1B1):c.1254+9G>A
|
|
|
NM_016219.5(MAN1B1):c.1255-13C>G
|
|
|
NM_016219.5(MAN1B1):c.1255-13del
|
|
|
NM_016219.5(MAN1B1):c.1255-4G>A
|
rs201918928
|
|
NM_016219.5(MAN1B1):c.1255-9C>T
|
|
|
NM_016219.5(MAN1B1):c.1260A>C (p.Ala420=)
|
|
|
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs)
|
rs794729645
|
|
NM_016219.5(MAN1B1):c.1284C>T (p.Ile428=)
|
rs779030233
|
|
NM_016219.5(MAN1B1):c.1292T>C (p.Leu431Pro)
|
|
|
NM_016219.5(MAN1B1):c.1297G>T (p.Gly433Trp)
|
|
|
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu)
|
rs774769293
|
|
NM_016219.5(MAN1B1):c.1306G>C (p.Asp436His)
|
|
|
NM_016219.5(MAN1B1):c.1311del (p.Leu438fs)
|
rs747262065
|
|
NM_016219.5(MAN1B1):c.1314G>C (p.Leu438=)
|
|
|
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
|
|
|
NM_016219.5(MAN1B1):c.1331A>G (p.Asn444Ser)
|
|
|
NM_016219.5(MAN1B1):c.1344C>T (p.Gly448=)
|
|
|
NM_016219.5(MAN1B1):c.1347C>T (p.Leu449=)
|
|
|
NM_016219.5(MAN1B1):c.1353C>T (p.Thr451=)
|
|
|
NM_016219.5(MAN1B1):c.1371G>A (p.Thr457=)
|
|
|
NM_016219.5(MAN1B1):c.1377C>T (p.Gly459=)
|
|
|
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
|
|
|
NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)
|
|
|
NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter)
|
rs1564311909
|
|
NM_016219.5(MAN1B1):c.1443A>G (p.Thr481=)
|
|
|
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter)
|
rs1831100789
|
|
NM_016219.5(MAN1B1):c.1445+15G>A
|
|
|
NM_016219.5(MAN1B1):c.1445+2_1445+5del
|
rs1831100970
|
|
NM_016219.5(MAN1B1):c.1445+31_1445+79dup
|
rs757502368
|
|
NM_016219.5(MAN1B1):c.1445+6G>T
|
|
|
NM_016219.5(MAN1B1):c.1445+9C>T
|
|
|
NM_016219.5(MAN1B1):c.1446-10G>C
|
|
|
NM_016219.5(MAN1B1):c.1446-19T>C
|
|
|
NM_016219.5(MAN1B1):c.1446-4A>G
|
|
|
NM_016219.5(MAN1B1):c.1447CTG[3] (p.Leu484_Glu485insLeu)
|
|
|
NM_016219.5(MAN1B1):c.1457A>G (p.Asp486Gly)
|
|
|
NM_016219.5(MAN1B1):c.1462G>A (p.Val488Met)
|
|
|
NM_016219.5(MAN1B1):c.1474G>A (p.Glu492Lys)
|
|
|
NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln)
|
rs775259244
|
|
NM_016219.5(MAN1B1):c.1480G>A (p.Val494Ile)
|
|
|
NM_016219.5(MAN1B1):c.1488G>C (p.Thr496=)
|
|
|
NM_016219.5(MAN1B1):c.1489C>T (p.His497Tyr)
|
|
|
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=)
|
rs1168317937
|
|
NM_016219.5(MAN1B1):c.1566+11C>G
|
|
|
NM_016219.5(MAN1B1):c.1566+14C>A
|
|
|
NM_016219.5(MAN1B1):c.1566+15G>A
|
|
|
NM_016219.5(MAN1B1):c.1566+20C>T
|
|
|
NM_016219.5(MAN1B1):c.1567-13C>T
|
|
|
NM_016219.5(MAN1B1):c.1567-18G>A
|
|
|
NM_016219.5(MAN1B1):c.1596G>A (p.Thr532=)
|
|
|
NM_016219.5(MAN1B1):c.1603C>T (p.Leu535=)
|
|
|
NM_016219.5(MAN1B1):c.1608C>T (p.Gly536=)
|
|
|
NM_016219.5(MAN1B1):c.1618G>A (p.Gly540Ser)
|
|
|
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=)
|
rs886063730
|
|
NM_016219.5(MAN1B1):c.1623G>C (p.Leu541=)
|
|
|
NM_016219.5(MAN1B1):c.1633C>A (p.His545Asn)
|
|
|
NM_016219.5(MAN1B1):c.1648C>G (p.Gln550Glu)
|
|
|
NM_016219.5(MAN1B1):c.1676T>C (p.Met559Thr)
|
|
|
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys)
|
rs1017935955
|
|
NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)
|
|
|
NM_016219.5(MAN1B1):c.1696G>C (p.Gly566Arg)
|
|
|
NM_016219.5(MAN1B1):c.1707C>T (p.Pro569=)
|
|
|
NM_016219.5(MAN1B1):c.1740G>A (p.Pro580=)
|
|
|
NM_016219.5(MAN1B1):c.1748G>A (p.Arg583Gln)
|
|
|
NM_016219.5(MAN1B1):c.1764+14T>C
|
|
|
NM_016219.5(MAN1B1):c.1764+15G>A
|
rs2131131764
|
|
NM_016219.5(MAN1B1):c.1764+17G>A
|
|
|
NM_016219.5(MAN1B1):c.1764+2TGGGCC[3]
|
|
|
NM_016219.5(MAN1B1):c.1790G>A (p.Arg597Gln)
|
|
|
NM_016219.5(MAN1B1):c.1792C>T (p.Pro598Ser)
|
|
|
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn)
|
rs929390325
|
|
NM_016219.5(MAN1B1):c.1823A>T (p.Tyr608Phe)
|
|
|
NM_016219.5(MAN1B1):c.1840C>G (p.Arg614Gly)
|
|
|
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=)
|
rs886063731
|
|
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile)
|
rs797045687
|
|
NM_016219.5(MAN1B1):c.1886G>A (p.Arg629Gln)
|
|
|
NM_016219.5(MAN1B1):c.1896+16C>T
|
|
|
NM_016219.5(MAN1B1):c.1896+17G>C
|
|
|
NM_016219.5(MAN1B1):c.1896+8C>T
|
|
|
NM_016219.5(MAN1B1):c.1896+9C>T
|
|
|
NM_016219.5(MAN1B1):c.1897-5C>A
|
|
|
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=)
|
rs114484315
|
|
NM_016219.5(MAN1B1):c.1913A>G (p.Tyr638Cys)
|
|
|
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=)
|
rs34355967
|
|
NM_016219.5(MAN1B1):c.1946A>G (p.Lys649Arg)
|
|
|
NM_016219.5(MAN1B1):c.1951G>A (p.Glu651Lys)
|
|
|
NM_016219.5(MAN1B1):c.1953G>A (p.Glu651=)
|
rs1244821111
|
|
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
|
|
|
NM_016219.5(MAN1B1):c.1987G>A (p.Glu663Lys)
|
rs371136351
|
|
NM_016219.5(MAN1B1):c.1992G>T (p.Thr664=)
|
|
|
NM_016219.5(MAN1B1):c.2039G>C (p.Ser680Thr)
|
|
|
NM_016219.5(MAN1B1):c.2041C>T (p.Leu681=)
|
|
|
NM_016219.5(MAN1B1):c.2046_2047inv (p.Ala683Thr)
|
|
|
NM_016219.5(MAN1B1):c.2064C>T (p.Thr688=)
|
|
|
NM_016219.5(MAN1B1):c.2069C>T (p.Ala690Val)
|
|
|
NM_016219.5(MAN1B1):c.2093C>T (p.Pro698Leu)
|
|
|
NM_016219.5(MAN1B1):c.220-10C>T
|
|
|
NM_016219.5(MAN1B1):c.220-7C>G
|
|
|
NM_016219.5(MAN1B1):c.220-9C>T
|
|
|
NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)
|
|
|
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val)
|
rs1830422438
|
|
NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter)
|
rs2130986124
|
|
NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)
|
|
|
NM_016219.5(MAN1B1):c.256A>G (p.Ile86Val)
|
|
|
NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)
|
|
|
NM_016219.5(MAN1B1):c.329-14C>T
|
|
|
NM_016219.5(MAN1B1):c.329-9G>C
|
|
|
NM_016219.5(MAN1B1):c.329C>T (p.Ala110Val)
|
|
|
NM_016219.5(MAN1B1):c.375T>C (p.Ile125=)
|
|
|
NM_016219.5(MAN1B1):c.402C>T (p.Pro134=)
|
|
|
NM_016219.5(MAN1B1):c.410C>T (p.Pro137Leu)
|
|
|
NM_016219.5(MAN1B1):c.426G>C (p.Ala142=)
|
rs199738190
|
|
NM_016219.5(MAN1B1):c.439G>C (p.Glu147Gln)
|
|
|
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=)
|
rs886063727
|
|
NM_016219.5(MAN1B1):c.482T>C (p.Ile161Thr)
|
rs2131002805
|
|
NM_016219.5(MAN1B1):c.487C>T (p.Arg163Trp)
|
|
|
NM_016219.5(MAN1B1):c.525A>G (p.Gln175=)
|
|
|
NM_016219.5(MAN1B1):c.526G>A (p.Asp176Asn)
|
|
|
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val)
|
rs886063728
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
NM_016219.5(MAN1B1):c.536A>G (p.Asp179Gly)
|
rs2131002949
|
|
NM_016219.5(MAN1B1):c.540G>A (p.Gly180=)
|
|
|
NM_016219.5(MAN1B1):c.564G>A (p.Arg188=)
|
rs1554752187
|
|
NM_016219.5(MAN1B1):c.587G>T (p.Arg196Leu)
|
rs200410163
|
|
NM_016219.5(MAN1B1):c.620+10G>A
|
|
|
NM_016219.5(MAN1B1):c.620+10G>T
|
|
|
NM_016219.5(MAN1B1):c.620+12A>G
|
|
|
NM_016219.5(MAN1B1):c.620+20C>G
|
|
|
NM_016219.5(MAN1B1):c.621-14C>T
|
|
|
NM_016219.5(MAN1B1):c.621-2A>G
|
rs937318545
|
|
NM_016219.5(MAN1B1):c.621-4G>T
|
|
|
NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)
|
|
|
NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)
|
|
|
NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)
|
|
|
NM_016219.5(MAN1B1):c.645T>C (p.Pro215=)
|
|
|
NM_016219.5(MAN1B1):c.671G>A (p.Arg224Lys)
|
|
|
NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly)
|
rs145554887
|
|
NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)
|
|
|
NM_016219.5(MAN1B1):c.708G>C (p.Pro236=)
|
rs536127999
|
|
NM_016219.5(MAN1B1):c.730+13C>G
|
|
|
NM_016219.5(MAN1B1):c.730+16C>T
|
|
|
NM_016219.5(MAN1B1):c.730+5G>A
|
|
|
NM_016219.5(MAN1B1):c.730+8C>T
|
|
|
NM_016219.5(MAN1B1):c.731-16C>T
|
|
|
NM_016219.5(MAN1B1):c.731-17T>C
|
rs1164752378
|
|
NM_016219.5(MAN1B1):c.731-18CT[2]
|
|
|
NM_016219.5(MAN1B1):c.731-8C>A
|
rs375902720
|
|
NM_016219.5(MAN1B1):c.731-8C>T
|
rs375902720
|
|
NM_016219.5(MAN1B1):c.746G>A (p.Arg249His)
|
|
|
NM_016219.5(MAN1B1):c.757G>A (p.Val253Met)
|
|
|
NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs)
|
rs1564281411
|
|
NM_016219.5(MAN1B1):c.765C>T (p.Asp255=)
|
|
|
NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)
|
|
|
NM_016219.5(MAN1B1):c.816C>T (p.Asp272=)
|
|
|
NM_016219.5(MAN1B1):c.817G>A (p.Glu273Lys)
|
|
|
NM_016219.5(MAN1B1):c.879C>T (p.Asp293=)
|
|
|
NM_016219.5(MAN1B1):c.880G>A (p.Ala294Thr)
|
|
|
NM_016219.5(MAN1B1):c.892A>G (p.Met298Val)
|
|
|
NM_016219.5(MAN1B1):c.906T>C (p.Gly302=)
|
|
|
NM_016219.5(MAN1B1):c.916+10G>A
|
|
|
NM_016219.5(MAN1B1):c.916+14T>C
|
|
|
NM_016219.5(MAN1B1):c.917-2_921del
|
|
|
NM_016219.5(MAN1B1):c.939G>A (p.Trp313Ter)
|
rs1830793247
|
|
NM_016219.5(MAN1B1):c.969C>T (p.Asp323=)
|
|
|
NM_016219.5(MAN1B1):c.970G>A (p.Val324Met)
|
|
|
NM_016219.5(MAN1B1):c.973G>A (p.Asp325Asn)
|
|
|
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala)
|
rs546612497
|
|