NC_000022.10:g.(?_29998545)_(30095589_?)del
|
|
|
NC_000022.10:g.(?_29999982)_(30090797_?)del
|
|
|
NC_000022.10:g.(?_29999988)_(30032875_?)del
|
|
|
NC_000022.10:g.(?_29999988)_(30090791_?)del
|
|
|
NC_000022.10:g.(?_30032730)_(30064445_?)del
|
|
|
NC_000022.10:g.(?_30032730)_(30090791_?)del
|
|
|
NC_000022.10:g.(?_30050636)_(30051675_?)del
|
|
|
NC_000022.10:g.(?_30051485)_30051628del
|
|
|
NC_000022.10:g.(?_30070815)_(30077600_?)del
|
|
|
NC_000022.10:g.(?_30077418)_(30090791_?)del
|
|
|
NC_000022.10:g.[30057723_30063344del;30063345_30067790del]
|
|
|
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
|
|
|
NC_000022.11:g.(?_29603989)_(29604122_?)del
|
|
|
NC_000022.11:g.(?_29603989)_(29636886_?)del
|
|
|
NC_000022.11:g.(?_29603989)_(29681611_?)del
|
|
|
NC_000022.11:g.(?_29603999)_(29604122_?)del
|
|
|
NC_000022.11:g.(?_29603999)_(29642295_?)del
|
|
|
NC_000022.11:g.(?_29636741)_(29639222_?)del
|
|
|
NC_000022.11:g.(?_29636741)_(29661349_?)del
|
|
|
NC_000022.11:g.(?_29642196)_(29642291_?)del
|
|
|
NC_000022.11:g.(?_29658157)_(29661364_?)del
|
|
|
NC_000022.11:g.(?_29668327)_(29678329_?)del
|
|
|
NC_000022.11:g.(?_29671816)_(29678333_?)del
|
|
|
NC_000022.11:g.(?_29673259)_(29673496_?)del
|
|
|
NM_000268.3(NF2):c.-443-?_*3798+?del
|
|
|
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter)
|
rs1601643866
|
|
NM_000268.4(NF2):c.1006dup (p.Arg336fs)
|
rs1601643896
|
|
NM_000268.4(NF2):c.1015dup (p.Leu339fs)
|
|
|
NM_000268.4(NF2):c.1019_1022del (p.Ala340fs)
|
|
|
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter)
|
rs74315499
|
|
NM_000268.4(NF2):c.1022del (p.Arg341fs)
|
rs2147071740
|
|
NM_000268.4(NF2):c.1026del (p.Lys343fs)
|
|
|
NM_000268.4(NF2):c.1029_1050del (p.Lys343fs)
|
|
|
NM_000268.4(NF2):c.1039G>T (p.Glu347Ter)
|
|
|
NM_000268.4(NF2):c.1051del (p.Arg351fs)
|
rs2147072473
|
|
NM_000268.4(NF2):c.1056del (p.Arg353fs)
|
rs1601644130
|
|
NM_000268.4(NF2):c.1060del (p.Asp354fs)
|
rs1601644146
|
|
NM_000268.4(NF2):c.1074del (p.Arg359fs)
|
rs2147073084
|
|
NM_000268.4(NF2):c.1079T>C (p.Leu360Pro)
|
rs74315492
|
|
NM_000268.4(NF2):c.1084C>T (p.Gln362Ter)
|
|
|
NM_000268.4(NF2):c.1096_1097del (p.Glu366fs)
|
|
|
NM_000268.4(NF2):c.10del (p.Ala4fs)
|
rs2064712705
|
|
NM_000268.4(NF2):c.111C>A (p.Cys37Ter)
|
|
|
NM_000268.4(NF2):c.1122+1G>A
|
rs1569304774
|
|
NM_000268.4(NF2):c.1123-2A>G
|
rs2147082167
|
|
NM_000268.4(NF2):c.112G>T (p.Glu38Ter)
|
|
|
NM_000268.4(NF2):c.114+1G>T
|
rs2146661259
|
|
NM_000268.4(NF2):c.1162del (p.Ala388fs)
|
rs2066859618
|
|
NM_000268.4(NF2):c.1174G>T (p.Glu392Ter)
|
|
|
NM_000268.4(NF2):c.118A>T (p.Lys40Ter)
|
|
|
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro)
|
rs2147082680
|
|
NM_000268.4(NF2):c.1198C>T (p.Gln400Ter)
|
rs2147082728
|
|
NM_000268.4(NF2):c.1198del (p.Gln400fs)
|
|
|
NM_000268.4(NF2):c.1210G>T (p.Glu404Ter)
|
rs2066861383
|
|
NM_000268.4(NF2):c.1219C>T (p.Gln407Ter)
|
rs74315501
|
|
NM_000268.4(NF2):c.1228C>T (p.Gln410Ter)
|
rs1556000842
|
|
NM_000268.4(NF2):c.1229del (p.Gln410fs)
|
rs1601648452
|
|
NM_000268.4(NF2):c.1229dup (p.Arg411fs)
|
|
|
NM_000268.4(NF2):c.122G>A (p.Trp41Ter)
|
rs1555986860
|
|
NM_000268.4(NF2):c.125_126insG (p.Gly43fs)
|
rs587776564
|
|
NM_000268.4(NF2):c.1261G>T (p.Glu421Ter)
|
rs2147083330
|
|
NM_000268.4(NF2):c.1264G>T (p.Glu422Ter)
|
rs2066864084
|
|
NM_000268.4(NF2):c.1282C>T (p.Gln428Ter)
|
|
|
NM_000268.4(NF2):c.1284del (p.Lys429fs)
|
|
|
NM_000268.4(NF2):c.1300G>T (p.Glu434Ter)
|
rs992662337
|
|
NM_000268.4(NF2):c.1327G>T (p.Glu443Ter)
|
|
|
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs)
|
rs1601649018
|
|
NM_000268.4(NF2):c.1340+1G>T
|
rs2147084279
|
|
NM_000268.4(NF2):c.1340+2T>G
|
rs1601649049
|
|
NM_000268.4(NF2):c.1341-1G>A
|
rs2147091894
|
|
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs)
|
rs1556001351
|
|
NM_000268.4(NF2):c.1387G>T (p.Glu463Ter)
|
rs74315503
|
|
NM_000268.4(NF2):c.1395_1396delinsAT (p.Arg466Ter)
|
rs2066914171
|
|
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter)
|
rs74315504
|
|
NM_000268.4(NF2):c.1413_1428del (p.Leu472fs)
|
rs2066915159
|
|
NM_000268.4(NF2):c.1447-1G>A
|
rs2147107697
|
|
NM_000268.4(NF2):c.1447-2del
|
rs1556002457
|
|
NM_000268.4(NF2):c.1463del (p.Pro488fs)
|
|
|
NM_000268.4(NF2):c.1490del (p.Ser497fs)
|
rs2147108214
|
|
NM_000268.4(NF2):c.14_15insG (p.Ile5fs)
|
|
|
NM_000268.4(NF2):c.1507del (p.Asp503fs)
|
|
|
NM_000268.4(NF2):c.1514del (p.Leu505fs)
|
|
|
NM_000268.4(NF2):c.1521del (p.Phe507fs)
|
|
|
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro)
|
rs1556002568
|
|
NM_000268.4(NF2):c.1564_1567del (p.Glu522fs)
|
|
|
NM_000268.4(NF2):c.1574+1G>A
|
|
|
NM_000268.4(NF2):c.1574+2T>A
|
|
|
NM_000268.4(NF2):c.1575-1G>C
|
|
|
NM_000268.4(NF2):c.1575-2A>G
|
rs2067131272
|
|
NM_000268.4(NF2):c.1575-6C>A
|
rs1350177470
|
|
NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)
|
rs74315505
|
|
NM_000268.4(NF2):c.1604T>C (p.Leu535Pro)
|
rs74315493
|
|
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter)
|
rs2147122581
|
|
NM_000268.4(NF2):c.1612C>T (p.Gln538Ter)
|
rs2147122623
|
|
NM_000268.4(NF2):c.1613A>C (p.Gln538Pro)
|
rs74315494
|
|
NM_000268.4(NF2):c.1613dup (p.Leu539fs)
|
rs2147122655
|
|
NM_000268.4(NF2):c.1621G>T (p.Glu541Ter)
|
rs2147122741
|
|
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter)
|
rs878853925
|
|
NM_000268.4(NF2):c.1627_1628del (p.Lys543fs)
|
rs2147122795
|
|
NM_000268.4(NF2):c.1646T>A (p.Leu549Ter)
|
rs1601666156
|
|
NM_000268.4(NF2):c.1660_1661del (p.Arg554fs)
|
rs1601666191
|
|
NM_000268.4(NF2):c.169C>T (p.Arg57Ter)
|
rs121434259
|
|
NM_000268.4(NF2):c.1737+1G>C
|
|
|
NM_000268.4(NF2):c.1737+1G>T
|
rs1556003799
|
|
NM_000268.4(NF2):c.1737+2T>C
|
rs1556003801
|
|
NM_000268.4(NF2):c.179G>A (p.Trp60Ter)
|
|
|
NM_000268.4(NF2):c.179_185del (p.Trp60fs)
|
rs1601579095
|
|
NM_000268.4(NF2):c.180G>A (p.Trp60Ter)
|
rs780872661
|
|
NM_000268.4(NF2):c.185T>C (p.Phe62Ser)
|
rs121434261
|
|
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
|
rs2065661533
|
|
NM_000268.4(NF2):c.205_211del (p.Lys69fs)
|
rs587776565
|
|
NM_000268.4(NF2):c.229del (p.Met77fs)
|
rs2146854677
|
|
NM_000268.4(NF2):c.240+1G>A
|
rs587776562
|
|
NM_000268.4(NF2):c.240+1G>C
|
rs587776562
|
|
NM_000268.4(NF2):c.240+1G>T
|
rs587776562
|
|
NM_000268.4(NF2):c.240+2T>C
|
rs2146854993
|
|
NM_000268.4(NF2):c.241-1G>A
|
|
|
NM_000268.4(NF2):c.241-2A>G
|
rs2146869427
|
|
NM_000268.4(NF2):c.241_249delinsAG (p.Val81fs)
|
|
|
NM_000268.4(NF2):c.251dup (p.His84fs)
|
rs2065728187
|
|
NM_000268.4(NF2):c.270del (p.Glu90fs)
|
|
|
NM_000268.4(NF2):c.273del (p.Val92fs)
|
rs1555987647
|
|
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del)
|
rs121434260
|
|
NM_000268.4(NF2):c.290del (p.Leu97fs)
|
|
|
NM_000268.4(NF2):c.302_303del (p.Tyr101fs)
|
rs2146871313
|
|
NM_000268.4(NF2):c.30del (p.Phe11fs)
|
rs1601515836
|
|
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)
|
rs2065731800
|
|
NM_000268.4(NF2):c.320_321del (p.Glu107fs)
|
rs2146871865
|
|
NM_000268.4(NF2):c.322del (p.Glu108fs)
|
rs2065731921
|
|
NM_000268.4(NF2):c.343C>T (p.Gln115Ter)
|
|
|
NM_000268.4(NF2):c.361C>T (p.Gln121Ter)
|
|
|
NM_000268.4(NF2):c.363+1G>A
|
rs1601583839
|
|
NM_000268.4(NF2):c.363+1G>T
|
rs1601583839
|
|
NM_000268.4(NF2):c.363+2T>C
|
rs2146873271
|
|
NM_000268.4(NF2):c.375_376del (p.Gln125fs)
|
rs2146892921
|
|
NM_000268.4(NF2):c.41_42del (p.Leu14fs)
|
rs1418675250
|
|
NM_000268.4(NF2):c.431dup (p.Tyr144Ter)
|
rs2065831369
|
|
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter)
|
rs1060503667
|
|
NM_000268.4(NF2):c.432del (p.Ser143_Tyr144insTer)
|
rs2065831600
|
|
NM_000268.4(NF2):c.433_434del (p.Ala145fs)
|
|
|
NM_000268.4(NF2):c.439C>T (p.Gln147Ter)
|
rs2146894926
|
|
NM_000268.4(NF2):c.43A>T (p.Lys15Ter)
|
rs1555978356
|
|
NM_000268.4(NF2):c.447+1del
|
rs2065832124
|
|
NM_000268.4(NF2):c.447+2T>C
|
rs2146895235
|
|
NM_000268.4(NF2):c.448-1G>A
|
rs2146966216
|
|
NM_000268.4(NF2):c.448-2A>G
|
rs2146966211
|
|
NM_000268.4(NF2):c.452del (p.Gly151fs)
|
rs2146966294
|
|
NM_000268.4(NF2):c.457dup (p.Tyr153fs)
|
rs2146966417
|
|
NM_000268.4(NF2):c.461_479dup (p.Gly161fs)
|
rs1569293373
|
|
NM_000268.4(NF2):c.465dup (p.Ser156fs)
|
|
|
NM_000268.4(NF2):c.470_479dup (p.Gly161fs)
|
rs2146966685
|
|
NM_000268.4(NF2):c.476del (p.Lys159fs)
|
|
|
NM_000268.4(NF2):c.481G>T (p.Gly161Ter)
|
rs1303879665
|
|
NM_000268.4(NF2):c.483del (p.Leu163fs)
|
|
|
NM_000268.4(NF2):c.493C>T (p.Gln165Ter)
|
rs1601611973
|
|
NM_000268.4(NF2):c.493del (p.Gln165fs)
|
|
|
NM_000268.4(NF2):c.499G>T (p.Glu167Ter)
|
|
|
NM_000268.4(NF2):c.503T>A (p.Leu168Ter)
|
|
|
NM_000268.4(NF2):c.516+1G>A
|
rs1601612044
|
|
NM_000268.4(NF2):c.516+2T>G
|
rs1569293488
|
|
NM_000268.4(NF2):c.517-1G>A
|
rs1064796632
|
|
NM_000268.4(NF2):c.517-2A>G
|
rs1060503670
|
|
NM_000268.4(NF2):c.517-92_568del
|
rs1601613230
|
|
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter)
|
rs780880330
|
|
NM_000268.4(NF2):c.531T>G (p.Tyr177Ter)
|
|
|
NM_000268.4(NF2):c.544G>T (p.Glu182Ter)
|
rs74315495
|
|
NM_000268.4(NF2):c.553G>T (p.Glu185Ter)
|
rs2146972508
|
|
NM_000268.4(NF2):c.563_564del (p.Ile188fs)
|
rs1555993313
|
|
NM_000268.4(NF2):c.576C>A (p.Tyr192Ter)
|
|
|
NM_000268.4(NF2):c.583_589del (p.His195fs)
|
rs1569294187
|
|
NM_000268.4(NF2):c.586C>T (p.Arg196Ter)
|
rs1555993336
|
|
NM_000268.4(NF2):c.58A>T (p.Lys20Ter)
|
rs2064715459
|
|
NM_000268.4(NF2):c.592C>T (p.Arg198Ter)
|
rs1555993345
|
|
NM_000268.4(NF2):c.599+1G>A
|
rs1555993352
|
|
NM_000268.4(NF2):c.599+1G>T
|
rs1555993352
|
|
NM_000268.4(NF2):c.599+2T>G
|
rs2146974102
|
|
NM_000268.4(NF2):c.600-2A>G
|
rs1601618501
|
|
NM_000268.4(NF2):c.610G>T (p.Glu204Ter)
|
|
|
NM_000268.4(NF2):c.627_628del (p.Lys209fs)
|
|
|
NM_000268.4(NF2):c.634C>T (p.Gln212Ter)
|
rs2146989887
|
|
NM_000268.4(NF2):c.643G>T (p.Glu215Ter)
|
|
|
NM_000268.4(NF2):c.643del (p.Glu215fs)
|
|
|
NM_000268.4(NF2):c.648_649dup (p.Tyr217fs)
|
rs2146990314
|
|
NM_000268.4(NF2):c.656_657insA (p.Asn220fs)
|
rs1555994819
|
|
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr)
|
rs1601618646
|
|
NM_000268.4(NF2):c.663C>G (p.Tyr221Ter)
|
rs2146990737
|
|
NM_000268.4(NF2):c.675+1G>C
|
rs1555994854
|
|
NM_000268.4(NF2):c.676-1G>T
|
|
|
NM_000268.4(NF2):c.676-2A>G
|
rs1060503666
|
|
NM_000268.4(NF2):c.679A>T (p.Lys227Ter)
|
rs2066466759
|
|
NM_000268.4(NF2):c.69dup (p.Val24fs)
|
rs1601515970
|
|
NM_000268.4(NF2):c.738_756del (p.Glu247fs)
|
rs1555996156
|
|
NM_000268.4(NF2):c.745A>T (p.Arg249Ter)
|
|
|
NM_000268.4(NF2):c.745_752del (p.Arg249fs)
|
rs1601624078
|
|
NM_000268.4(NF2):c.770_784del (p.Pro257_Ile261del)
|
rs2147010188
|
|
NM_000268.4(NF2):c.771del (p.Trp258fs)
|
|
|
NM_000268.4(NF2):c.774G>A (p.Trp258Ter)
|
rs2147010427
|
|
NM_000268.4(NF2):c.784C>T (p.Arg262Ter)
|
rs74315496
|
|
NM_000268.4(NF2):c.798C>G (p.Tyr266Ter)
|
rs917257652
|
|
NM_000268.4(NF2):c.805A>T (p.Lys269Ter)
|
|
|
NM_000268.4(NF2):c.810+1G>A
|
rs794728682
|
|
NM_000268.4(NF2):c.810+2T>C
|
rs1601624296
|
|
NM_000268.4(NF2):c.863C>G (p.Ser288Ter)
|
rs2066580454
|
|
NM_000268.4(NF2):c.876del (p.Asn293fs)
|
rs2147033768
|
|
NM_000268.4(NF2):c.885+1G>A
|
rs2066581489
|
|
NM_000268.4(NF2):c.892C>T (p.Gln298Ter)
|
rs2147051643
|
|
NM_000268.4(NF2):c.933del (p.Ala313fs)
|
rs1601636894
|
|
NM_000268.4(NF2):c.934A>T (p.Lys312Ter)
|
rs2147052253
|
|
NM_000268.4(NF2):c.958C>T (p.Gln320Ter)
|
rs74315497
|
|
NM_000268.4(NF2):c.970C>T (p.Gln324Ter)
|
|
|
NM_000268.4(NF2):c.970del (p.Gln324fs)
|
rs1555998851
|
|
NM_000268.4(NF2):c.979G>T (p.Glu327Ter)
|
|
|
NM_000268.4(NF2):c.995del (p.Lys332fs)
|
rs587776563
|
|
NM_000268.4(NF2):c.999+1G>A
|
rs1569302393
|
|
NM_000268.4(NF2):c.999+2T>G
|
rs2147053345
|
|
NM_000268.4(NF2):c.999+2_999+3del
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