NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)
|
rs779769525
|
0.00009
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00007
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
|
rs370760999
|
0.00003
|
NM_000528.4(MAN2B1):c.2664+1G>A
|
rs771953225
|
0.00003
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)
|
rs778554304
|
0.00001
|
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)
|
rs772853856
|
0.00001
|
NM_000528.4(MAN2B1):c.1420-1G>A
|
rs752229880
|
0.00001
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00001
|
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)
|
rs748872992
|
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.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
NM_000528.4(MAN2B1):c.2267+1G>A
|
rs1022927322
|
0.00001
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
NM_000528.4(MAN2B1):c.2820+1G>A
|
rs768734132
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)
|
rs746808159
|
0.00001
|
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)
|
rs772562587
|
0.00001
|
NC_000019.9:g.(?_12760707)_(12763294_?)dup
|
|
|
NC_000019.9:g.(?_12760717)_(12761046_?)dup
|
|
|
NM_000528.4(MAN2B1):c.1026+2T>C
|
rs369099686
|
|
NM_000528.4(MAN2B1):c.1027-1G>C
|
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)
|
rs864621980
|
|
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
|
rs2024251717
|
|
NM_000528.4(MAN2B1):c.1109+1G>C
|
rs2024027294
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1110-1G>A
|
|
|
NM_000528.4(MAN2B1):c.1110-1G>T
|
rs1599352199
|
|
NM_000528.4(MAN2B1):c.1110dup
|
|
|
NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)
|
|
|
NM_000528.4(MAN2B1):c.1144del (p.Asp382fs)
|
|
|
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
|
|
|
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)
|
rs1057516524
|
|
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
|
|
|
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
|
|
|
NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)
|
|
|
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
|
|
|
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.1309+1G>T
|
rs1057516745
|
|
NM_000528.4(MAN2B1):c.1310-1G>A
|
rs1555708156
|
|
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)
|
rs864621984
|
|
NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)
|
|
|
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)
|
rs2023996617
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)
|
rs1555708126
|
|
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)
|
rs1599350640
|
|
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)
|
rs2023994563
|
|
NM_000528.4(MAN2B1):c.1419+1G>T
|
|
|
NM_000528.4(MAN2B1):c.1419+2_1419+15del
|
rs2145256406
|
|
NM_000528.4(MAN2B1):c.1420-104_1449del
|
|
|
NM_000528.4(MAN2B1):c.1420-27_1420-3del
|
|
|
NM_000528.4(MAN2B1):c.1420-2A>G
|
rs2145254657
|
|
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)
|
rs2023979174
|
|
NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)
|
|
|
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs)
|
rs1057517316
|
|
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)
|
rs755508725
|
|
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)
|
rs886054230
|
|
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs)
|
rs1599349822
|
|
NM_000528.4(MAN2B1):c.1527+1G>A
|
|
|
NM_000528.4(MAN2B1):c.1527+1G>C
|
rs1322313985
|
|
NM_000528.4(MAN2B1):c.1528-1G>T
|
rs561991886
|
|
NM_000528.4(MAN2B1):c.1528-2A>G
|
|
|
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)
|
rs2023968144
|
|
NM_000528.4(MAN2B1):c.159+1G>A
|
rs1555710254
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.162del (p.Cys55fs)
|
rs2145290970
|
|
NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)
|
|
|
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)
|
rs864621975
|
|
NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)
|
|
|
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)
|
rs2023939487
|
|
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs)
|
rs1057516459
|
|
NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)
|
|
|
NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)
|
|
|
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)
|
rs1224319934
|
|
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs)
|
rs1057516289
|
|
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
|
|
|
NM_000528.4(MAN2B1):c.1889delinsCAC (p.Asn630fs)
|
|
|
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)
|
rs121434332
|
|
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)
|
rs1599344532
|
|
NM_000528.4(MAN2B1):c.1929-2A>G
|
rs2023856348
|
|
NM_000528.4(MAN2B1):c.1929-2A>T
|
|
|
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
|
rs756680048
|
|
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
|
|
|
NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)
|
|
|
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)
|
|
|
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
|
|
|
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)
|
rs2023853280
|
|
NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)
|
|
|
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)
|
rs2023852354
|
|
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)
|
rs2023851530
|
|
NM_000528.4(MAN2B1):c.2046+1G>A
|
rs1555707087
|
|
NM_000528.4(MAN2B1):c.2046+1G>T
|
rs1555707087
|
|
NM_000528.4(MAN2B1):c.2047-1G>A
|
rs1057517166
|
|
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)
|
rs2023809731
|
|
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)
|
rs2023809176
|
|
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs)
|
rs1555706774
|
|
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
|
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2165+1del
|
rs1555706752
|
|
NM_000528.4(MAN2B1):c.2166-2A>G
|
rs2145232776
|
|
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
|
rs2023804275
|
|
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)
|
|
|
NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)
|
|
|
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
|
|
|
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2268-1G>C
|
rs1555706596
|
|
NM_000528.4(MAN2B1):c.2268-2A>T
|
rs2023783146
|
|
NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)
|
|
|
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)
|
rs1555710070
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
NM_000528.4(MAN2B1):c.2356-2A>G
|
rs1064793936
|
|
NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)
|
|
|
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.2402G>A (p.Gly801Asp)
|
rs864621994
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000528.4(MAN2B1):c.2436+1G>A
|
rs200036864
|
|
NM_000528.4(MAN2B1):c.2436+5G>A
|
|
|
NM_000528.4(MAN2B1):c.2437-300_2719del
|
|
|
NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)
|
|
|
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
|
rs2024217737
|
|
NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)
|
|
|
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter)
|
rs1291147781
|
|
NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)
|
|
|
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
|
|
|
NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)
|
|
|
NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)
|
|
|
NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)
|
|
|
NM_000528.4(MAN2B1):c.262+2T>C
|
|
|
NM_000528.4(MAN2B1):c.263-1G>A
|
|
|
NM_000528.4(MAN2B1):c.263-2A>C
|
|
|
NM_000528.4(MAN2B1):c.2636_2637insTCCCAACT (p.Asn880fs)
|
|
|
NM_000528.4(MAN2B1):c.2665-1G>C
|
rs1555706185
|
|
NM_000528.4(MAN2B1):c.2665-2A>G
|
|
|
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)
|
rs767323371
|
|
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)
|
rs368224056
|
|
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)
|
rs139366493
|
|
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)
|
rs1555706137
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)
|
rs2023718817
|
|
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
|
|
|
NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)
|
|
|
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)
|
rs1057516325
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.2821-2A>G
|
|
|
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)
|
rs2023710111
|
|
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.292C>T (p.Gln98Ter)
|
rs2024210372
|
|
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)
|
rs864621991
|
|
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)
|
rs2024208039
|
|
NM_000528.4(MAN2B1):c.414del (p.Val139fs)
|
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
NM_000528.4(MAN2B1):c.437-1G>A
|
|
|
NM_000528.4(MAN2B1):c.437-1dup
|
rs1160557969
|
|
NM_000528.4(MAN2B1):c.437-2A>G
|
|
|
NM_000528.4(MAN2B1):c.437-2del
|
|
|
NM_000528.4(MAN2B1):c.440del (p.Arg147fs)
|
|
|
NM_000528.4(MAN2B1):c.446del (p.Glu149fs)
|
rs1057516682
|
|
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
|
rs771479314
|
|
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)
|
rs1057516810
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
|
|
|
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)
|
|
|
NM_000528.4(MAN2B1):c.631-2A>C
|
|
|
NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)
|
|
|
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
|
|
|
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu)
|
rs574202419
|
|
NM_000528.4(MAN2B1):c.739_740insTAAAGAT (p.Pro247fs)
|
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
NM_000528.4(MAN2B1):c.764-1G>C
|
rs1555709533
|
|
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)
|
rs1329771201
|
|
NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)
|
|
|
NM_000528.4(MAN2B1):c.909+1G>C
|
|
|
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs)
|
rs1057516972
|
|
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)
|
rs774034389
|
|
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
|
|
|