NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
rs759449765
|
0.00004
|
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)
|
rs1266964950
|
0.00003
|
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter)
|
rs781133275
|
0.00002
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter)
|
rs1270359418
|
0.00001
|
NM_005908.4(MANBA):c.1234dup (p.Trp412fs)
|
rs1731366707
|
0.00001
|
NM_005908.4(MANBA):c.1434del (p.Lys479fs)
|
rs776601022
|
0.00001
|
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter)
|
rs866558712
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter)
|
rs1309076303
|
0.00001
|
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
|
rs780068572
|
0.00001
|
NM_005908.4(MANBA):c.2072del (p.Leu691fs)
|
rs774701514
|
0.00001
|
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs)
|
rs1160665082
|
0.00001
|
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter)
|
rs1035305358
|
0.00001
|
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)
|
rs1054688954
|
0.00001
|
NM_005908.4(MANBA):c.375A>G (p.Arg125=)
|
rs771587242
|
0.00001
|
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)
|
rs752343321
|
0.00001
|
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter)
|
rs763849774
|
0.00001
|
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)
|
rs1553948361
|
0.00001
|
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)
|
rs1164262919
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NC_000004.11:g.(?_101947022)_(104640832_?)del
|
|
|
NC_000004.11:g.(?_103590100)_(103611948_?)del
|
|
|
NC_000004.11:g.(?_103610711)_(103645144_?)del
|
|
|
NM_005908.4(MANBA):c.1018del (p.Ser340fs)
|
|
|
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs)
|
rs2476786433
|
|
NM_005908.4(MANBA):c.1153_1162del (p.Asn385fs)
|
rs2476782303
|
|
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs)
|
rs2476782313
|
|
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)
|
rs1267827826
|
|
NM_005908.4(MANBA):c.1312del (p.Tyr438fs)
|
rs2476779375
|
|
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter)
|
rs1208178394
|
|
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)
|
rs2476774436
|
|
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs)
|
rs764364492
|
|
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs)
|
rs2476774517
|
|
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs)
|
rs1188116333
|
|
NM_005908.4(MANBA):c.1470del (p.Glu491fs)
|
rs2476774466
|
|
NM_005908.4(MANBA):c.1511_1512insAATA (p.Ser505fs)
|
rs760992372
|
|
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter)
|
rs1730640591
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter)
|
rs2476765995
|
|
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter)
|
rs903990993
|
|
NM_005908.4(MANBA):c.1644del (p.Ala549fs)
|
rs1560752842
|
|
NM_005908.4(MANBA):c.1649del (p.Arg550fs)
|
rs2476765770
|
|
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter)
|
rs2476758160
|
|
NM_005908.4(MANBA):c.1733del (p.Asn578fs)
|
rs1404226085
|
|
NM_005908.4(MANBA):c.1836dup (p.Arg613fs)
|
rs2476757946
|
|
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter)
|
rs371368353
|
|
NM_005908.4(MANBA):c.2057del (p.Asn686fs)
|
rs2476721748
|
|
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer)
|
rs2476721458
|
|
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs)
|
rs2476721403
|
|
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter)
|
rs2476717919
|
|
NM_005908.4(MANBA):c.2175dup (p.Ser726fs)
|
rs771465504
|
|
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter)
|
rs1729554501
|
|
NM_005908.4(MANBA):c.386del (p.Asp129fs)
|
rs2528106112
|
|
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter)
|
rs2476904924
|
|
NM_005908.4(MANBA):c.63_64del (p.Ser22fs)
|
rs2477036536
|
|
NM_005908.4(MANBA):c.646_647insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATATTTGTCACCTGA (p.Asn216delinsArgGluGluProArgTrpProAsnArgAsnSerSerGlyLeuGlnLeuProAlaTer)
|
|
|
NM_005908.4(MANBA):c.677del (p.Lys226fs)
|
rs2476807656
|
|
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
|
rs1732439983
|
|
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)
|
rs1249251683
|
|
NM_005908.4(MANBA):c.780dup (p.Gln261fs)
|
rs2476807479
|
|
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
|
rs1437481110
|
|
NM_005908.4(MANBA):c.819del (p.Ile274fs)
|
rs2476807378
|
|
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter)
|
rs2476805306
|
|
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
|
rs777415626
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
rs1198947705
|
|