NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)
|
rs779769525
|
0.00009
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
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.1026+2T>G
|
rs369099686
|
0.00002
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)
|
rs999923581
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)
|
rs121434333
|
0.00001
|
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)
|
rs778554304
|
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.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.1831-2A>G
|
rs80338678
|
0.00001
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)
|
rs1369134650
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)
|
rs1429239930
|
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
|
NC_000019.9:g.(?_12757424)_(12769334_?)del
|
|
|
NC_000019.9:g.(?_12757434)_(12761056_?)del
|
|
|
NC_000019.9:g.(?_12768867)_(12769334_?)del
|
|
|
NC_000019.9:g.(?_12774121)_(12774659_?)del
|
|
|
NC_000019.9:g.(?_12775596)_(12777525_?)del
|
|
|
NM_000528.4(MAN2B1):c.103_106del (p.Leu35fs)
|
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
|
rs2024251717
|
|
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs)
|
rs2024028589
|
|
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)
|
rs2145261994
|
|
NM_000528.4(MAN2B1):c.1109+1G>C
|
rs2024027294
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)
|
|
|
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter)
|
rs767768982
|
|
NM_000528.4(MAN2B1):c.1148del (p.Gly383fs)
|
|
|
NM_000528.4(MAN2B1):c.1156C>T (p.Gln386Ter)
|
|
|
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter)
|
|
|
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs)
|
rs753695099
|
|
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)
|
rs781291011
|
|
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter)
|
|
|
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs)
|
rs2024020274
|
|
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)
|
rs2024019978
|
|
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.1309+1G>T
|
rs1057516745
|
|
NM_000528.4(MAN2B1):c.1310-2A>G
|
|
|
NM_000528.4(MAN2B1):c.131del (p.Ala44fs)
|
|
|
NM_000528.4(MAN2B1):c.145dup (p.Ala49fs)
|
|
|
NM_000528.4(MAN2B1):c.1468_1469del (p.Phe490fs)
|
rs2145254277
|
|
NM_000528.4(MAN2B1):c.1477del (p.Cys493fs)
|
|
|
NM_000528.4(MAN2B1):c.1527+1G>T
|
|
|
NM_000528.4(MAN2B1):c.1527+2T>G
|
rs2145254041
|
|
NM_000528.4(MAN2B1):c.1534del (p.Val512fs)
|
rs2023968643
|
|
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)
|
|
|
NM_000528.4(MAN2B1):c.1583_1599dup (p.Val534fs)
|
|
|
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs)
|
rs2145290975
|
|
NM_000528.4(MAN2B1):c.1644+4A>G
|
rs1218254964
|
|
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter)
|
rs376719984
|
|
NM_000528.4(MAN2B1):c.1667_1670del (p.Asp556fs)
|
|
|
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs)
|
rs2145290929
|
|
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs)
|
rs2145250113
|
|
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter)
|
rs2145250103
|
|
NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs)
|
|
|
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.1929G>A (p.Trp643Ter)
|
rs398123455
|
|
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
|
rs756680048
|
|
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)
|
rs2023854692
|
|
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
|
|
|
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter)
|
|
|
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)
|
|
|
NM_000528.4(MAN2B1):c.2113_2114delinsTA (p.Pro705Ter)
|
|
|
NM_000528.4(MAN2B1):c.2117_2121dup (p.Arg708fs)
|
|
|
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs)
|
rs2145290731
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2165+1G>A
|
rs80338679
|
|
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.2212del (p.Glu738fs)
|
rs1555706706
|
|
NM_000528.4(MAN2B1):c.2237_2240del (p.Asp746fs)
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs)
|
rs2023782686
|
|
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)
|
|
|
NM_000528.4(MAN2B1):c.2289_2295dup (p.Asn766fs)
|
|
|
NM_000528.4(MAN2B1):c.2300_2301insAA (p.Thr768fs)
|
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
NM_000528.4(MAN2B1):c.2356-2A>G
|
rs1064793936
|
|
NM_000528.4(MAN2B1):c.237_238del (p.Lys79fs)
|
rs2145290586
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)
|
rs1347035611
|
|
NM_000528.4(MAN2B1):c.241del (p.Val81fs)
|
|
|
NM_000528.4(MAN2B1):c.2437-2A>C
|
|
|
NM_000528.4(MAN2B1):c.2437-2A>G
|
rs1445197546
|
|
NM_000528.4(MAN2B1):c.2469_2478del (p.Gly824fs)
|
rs2145225759
|
|
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
|
rs2024217737
|
|
NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter)
|
|
|
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs)
|
rs2145225515
|
|
NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter)
|
|
|
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)
|
rs2145225250
|
|
NM_000528.4(MAN2B1):c.2555_2586del (p.Ala852fs)
|
|
|
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs)
|
rs2023745479
|
|
NM_000528.4(MAN2B1):c.256dup (p.Tyr86fs)
|
rs2024217430
|
|
NM_000528.4(MAN2B1):c.2604_2605del (p.Gln868fs)
|
|
|
NM_000528.4(MAN2B1):c.262+1G>C
|
rs2145290458
|
|
NM_000528.4(MAN2B1):c.2647del (p.Ala883fs)
|
rs2145224416
|
|
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.2748_2751del (p.Leu917fs)
|
rs2145221516
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)
|
rs1599337939
|
|
NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs)
|
|
|
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)
|
rs757072948
|
|
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
|
rs2024210372
|
|
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)
|
rs1735642901
|
|
NM_000528.4(MAN2B1):c.2970del (p.Thr991fs)
|
|
|
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)
|
rs2145289566
|
|
NM_000528.4(MAN2B1):c.343dup (p.Arg115fs)
|
|
|
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)
|
rs1555709972
|
|
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)
|
rs1366682636
|
|
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)
|
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
NM_000528.4(MAN2B1):c.437-1dup
|
rs1160557969
|
|
NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter)
|
|
|
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer)
|
rs2024192356
|
|
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.511C>T (p.Gln171Ter)
|
|
|
NM_000528.4(MAN2B1):c.522del (p.Leu176fs)
|
|
|
NM_000528.4(MAN2B1):c.561del (p.Arg188fs)
|
rs770297337
|
|
NM_000528.4(MAN2B1):c.603_604del (p.Arg202fs)
|
|
|
NM_000528.4(MAN2B1):c.603_604dup (p.Arg202fs)
|
|
|
NM_000528.4(MAN2B1):c.624dup (p.Ala209fs)
|
|
|
NM_000528.4(MAN2B1):c.627_630+1dup
|
rs2145286437
|
|
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
|
|
|
NM_000528.4(MAN2B1):c.670_671del (p.Gln224fs)
|
|
|
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)
|
|
|
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)
|
rs2024155693
|
|
NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)
|
|
|
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)
|
rs2024151949
|
|
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer)
|
rs778131120
|
|
NM_000528.4(MAN2B1):c.979_980del (p.Met327fs)
|
rs2145272932
|
|