NM_000080.4(CHRNE):c.917+15C>G
|
rs12942540
|
0.16257
|
NM_000080.4(CHRNE):c.46+64G>A
|
rs12602789
|
0.08447
|
NM_000080.4(CHRNE):c.345-7C>T
|
rs72835059
|
0.07330
|
NM_000080.4(CHRNE):c.519C>T (p.Ala173=)
|
rs33970119
|
0.03958
|
NM_000080.4(CHRNE):c.-8G>A
|
rs77481135
|
0.03561
|
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)
|
rs4790235
|
0.02635
|
NM_000080.4(CHRNE):c.45C>T (p.Leu15=)
|
rs34563587
|
0.02026
|
NM_000080.4(CHRNE):c.918-6C>G
|
rs141408756
|
0.00277
|
NM_000080.4(CHRNE):c.344+18C>T
|
rs201821934
|
0.00145
|
NM_000080.4(CHRNE):c.918-14T>C
|
rs375376258
|
0.00131
|
NM_000080.4(CHRNE):c.555C>T (p.Asp185=)
|
rs137952354
|
0.00096
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)
|
rs146931108
|
0.00042
|
NM_000080.4(CHRNE):c.46+20G>A
|
rs368007857
|
0.00032
|
NM_000080.4(CHRNE):c.66C>T (p.Asn22=)
|
rs55770091
|
0.00031
|
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)
|
rs199807050
|
0.00026
|
NM_000080.4(CHRNE):c.46+5G>A
|
rs375802288
|
0.00025
|
NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser)
|
rs764960076
|
0.00019
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)
|
rs142735836
|
0.00014
|
NM_000080.4(CHRNE):c.699G>A (p.Ser233=)
|
rs375146171
|
0.00011
|
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)
|
rs148370803
|
0.00010
|
NM_000080.4(CHRNE):c.671G>A (p.Gly224Asp)
|
rs141183965
|
0.00010
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000080.4(CHRNE):c.465C>T (p.Phe155=)
|
rs139625105
|
0.00009
|
NM_000080.4(CHRNE):c.768C>T (p.Gly256=)
|
rs372509633
|
0.00009
|
NM_001145536.2(C17orf107):c.*1565G>A
|
rs756213541
|
0.00009
|
NM_000080.4(CHRNE):c.6A>G (p.Ala2=)
|
rs202198207
|
0.00008
|
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala)
|
rs774407731
|
0.00008
|
NM_001145536.2(C17orf107):c.*1566G>A
|
rs369060595
|
0.00008
|
NM_000080.4(CHRNE):c.174G>A (p.Thr58=)
|
rs373275223
|
0.00006
|
NM_000080.4(CHRNE):c.406G>A (p.Val136Met)
|
rs773822199
|
0.00006
|
NM_000080.4(CHRNE):c.480G>A (p.Gln160=)
|
rs754300536
|
0.00006
|
NM_000080.4(CHRNE):c.726C>T (p.Phe242=)
|
rs150133823
|
0.00006
|
NM_000080.4(CHRNE):c.804C>T (p.Ala268=)
|
rs775149431
|
0.00006
|
NM_000080.4(CHRNE):c.948G>A (p.Thr316=)
|
rs144207552
|
0.00006
|
NM_000080.4(CHRNE):c.462C>T (p.Tyr154=)
|
rs781427923
|
0.00005
|
NM_000080.4(CHRNE):c.15G>A (p.Pro5=)
|
rs756933520
|
0.00004
|
NM_000080.4(CHRNE):c.46+8C>T
|
rs371778870
|
0.00004
|
NM_000080.4(CHRNE):c.543C>G (p.Ala181=)
|
rs766195083
|
0.00004
|
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala)
|
rs1336284577
|
0.00004
|
NM_000080.4(CHRNE):c.780C>T (p.Leu260=)
|
rs766792066
|
0.00004
|
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser)
|
rs762509943
|
0.00004
|
NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser)
|
rs745821689
|
0.00004
|
NM_000080.4(CHRNE):c.947C>T (p.Thr316Met)
|
rs146533655
|
0.00004
|
NM_000080.4(CHRNE):c.951C>T (p.Leu317=)
|
rs757563966
|
0.00004
|
NM_001145536.2(C17orf107):c.*2079G>A
|
rs1415170062
|
0.00004
|
NM_000080.4(CHRNE):c.-95G>A
|
rs990457690
|
0.00003
|
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg)
|
rs375652301
|
0.00003
|
NM_000080.4(CHRNE):c.802+7A>C
|
rs756213406
|
0.00003
|
NM_001145536.2(C17orf107):c.*2083C>T
|
rs906477326
|
0.00003
|
NM_001145536.2(C17orf107):c.*982G>A
|
rs1175424462
|
0.00003
|
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp)
|
rs754001856
|
0.00002
|
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe)
|
rs746521766
|
0.00002
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00002
|
NM_000080.4(CHRNE):c.235-5C>T
|
rs371818740
|
0.00002
|
NM_000080.4(CHRNE):c.237T>C (p.Asp79=)
|
rs777458923
|
0.00002
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
NM_000080.4(CHRNE):c.325G>A (p.Glu109Lys)
|
rs779426416
|
0.00002
|
NM_000080.4(CHRNE):c.329T>C (p.Ile110Thr)
|
rs1276426047
|
0.00002
|
NM_000080.4(CHRNE):c.360C>T (p.Phe120=)
|
rs140042356
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_000080.4(CHRNE):c.510G>A (p.Thr170=)
|
rs749454549
|
0.00002
|
NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp)
|
rs1279921545
|
0.00002
|
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser)
|
rs753756406
|
0.00002
|
NM_000080.4(CHRNE):c.705C>G (p.Ile235Met)
|
rs748765369
|
0.00002
|
NM_000080.4(CHRNE):c.720G>T (p.Pro240=)
|
rs1049141147
|
0.00002
|
NM_000080.4(CHRNE):c.756G>A (p.Val252=)
|
rs756407780
|
0.00002
|
NM_000080.4(CHRNE):c.803-2A>G
|
rs1320610655
|
0.00002
|
NM_000080.4(CHRNE):c.819C>T (p.Cys273=)
|
rs887770442
|
0.00002
|
NM_000080.4(CHRNE):c.852C>T (p.Thr284=)
|
rs770586668
|
0.00002
|
NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser)
|
rs61735425
|
0.00002
|
NM_000080.4(CHRNE):c.906G>A (p.Pro302=)
|
rs374156332
|
0.00002
|
NM_001145536.2(C17orf107):c.*2235G>A
|
rs753134441
|
0.00002
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.180C>T (p.Leu60=)
|
rs1486738510
|
0.00001
|
NM_000080.4(CHRNE):c.183C>T (p.Ile61=)
|
rs761677000
|
0.00001
|
NM_000080.4(CHRNE):c.195A>G (p.Glu65=)
|
rs1334272633
|
0.00001
|
NM_000080.4(CHRNE):c.204G>A (p.Glu68=)
|
rs1970025417
|
0.00001
|
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg)
|
rs1344336890
|
0.00001
|
NM_000080.4(CHRNE):c.311T>C (p.Leu104Pro)
|
rs772495418
|
0.00001
|
NM_000080.4(CHRNE):c.312C>T (p.Leu104=)
|
rs1341141356
|
0.00001
|
NM_000080.4(CHRNE):c.345T>A (p.Asn115Lys)
|
rs1388515362
|
0.00001
|
NM_000080.4(CHRNE):c.357G>A (p.Gln119=)
|
rs747638974
|
0.00001
|
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser)
|
rs771356927
|
0.00001
|
NM_000080.4(CHRNE):c.362G>T (p.Gly121Val)
|
rs746582621
|
0.00001
|
NM_000080.4(CHRNE):c.372C>T (p.Tyr124=)
|
rs894382905
|
0.00001
|
NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn)
|
rs1056080125
|
0.00001
|
NM_000080.4(CHRNE):c.39G>T (p.Gly13=)
|
rs1247743244
|
0.00001
|
NM_000080.4(CHRNE):c.405C>T (p.Ser135=)
|
rs1174619470
|
0.00001
|
NM_000080.4(CHRNE):c.420T>C (p.Pro140=)
|
rs886038226
|
0.00001
|
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)
|
rs121909512
|
0.00001
|
NM_000080.4(CHRNE):c.428T>C (p.Ile143Thr)
|
rs1484300953
|
0.00001
|
NM_000080.4(CHRNE):c.435C>T (p.Arg145=)
|
rs1194731229
|
0.00001
|
NM_000080.4(CHRNE):c.441C>A (p.Val147=)
|
rs779058823
|
0.00001
|
NM_000080.4(CHRNE):c.46+4_46+8del
|
rs1388295687
|
0.00001
|
NM_000080.4(CHRNE):c.468C>T (p.Pro156=)
|
rs751830305
|
0.00001
|
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser)
|
rs764552360
|
0.00001
|
NM_000080.4(CHRNE):c.474T>C (p.Asp158=)
|
rs150868720
|
0.00001
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
NM_000080.4(CHRNE):c.516T>C (p.Asn172=)
|
rs143410438
|
0.00001
|
NM_000080.4(CHRNE):c.520G>A (p.Glu174Lys)
|
rs1597620368
|
0.00001
|
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)
|
rs758687208
|
0.00001
|
NM_000080.4(CHRNE):c.534C>T (p.Phe178=)
|
rs1246145838
|
0.00001
|
NM_000080.4(CHRNE):c.544G>C (p.Val182Leu)
|
rs1198430909
|
0.00001
|
NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe)
|
rs1020146692
|
0.00001
|
NM_000080.4(CHRNE):c.585C>T (p.Asp195=)
|
rs954677814
|
0.00001
|
NM_000080.4(CHRNE):c.588A>C (p.Thr196=)
|
rs763114306
|
0.00001
|
NM_000080.4(CHRNE):c.591G>A (p.Glu197=)
|
rs1969984066
|
0.00001
|
NM_000080.4(CHRNE):c.637G>A (p.Val213Met)
|
rs1174721586
|
0.00001
|
NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys)
|
rs577641512
|
0.00001
|
NM_000080.4(CHRNE):c.647G>A (p.Arg216His)
|
rs1359029030
|
0.00001
|
NM_000080.4(CHRNE):c.654C>G (p.His218Gln)
|
rs751388919
|
0.00001
|
NM_000080.4(CHRNE):c.669C>T (p.Asp223=)
|
rs1463132688
|
0.00001
|
NM_000080.4(CHRNE):c.691A>G (p.Ile231Val)
|
rs1226552673
|
0.00001
|
NM_000080.4(CHRNE):c.702C>G (p.Leu234=)
|
rs1344473749
|
0.00001
|
NM_000080.4(CHRNE):c.706A>C (p.Ile236Leu)
|
rs145522662
|
0.00001
|
NM_000080.4(CHRNE):c.723C>T (p.Leu241=)
|
rs886053126
|
0.00001
|
NM_000080.4(CHRNE):c.73C>T (p.Leu25=)
|
rs1970032941
|
0.00001
|
NM_000080.4(CHRNE):c.744C>T (p.Ile248=)
|
rs1288770447
|
0.00001
|
NM_000080.4(CHRNE):c.745G>A (p.Val249Met)
|
rs757421529
|
0.00001
|
NM_000080.4(CHRNE):c.762C>T (p.Ile254=)
|
rs752926340
|
0.00001
|
NM_000080.4(CHRNE):c.76C>T (p.Arg26Cys)
|
rs773131873
|
0.00001
|
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg)
|
rs759226183
|
0.00001
|
NM_000080.4(CHRNE):c.795G>A (p.Pro265=)
|
rs1567638559
|
0.00001
|
NM_000080.4(CHRNE):c.7A>G (p.Arg3Gly)
|
rs201118080
|
0.00001
|
NM_000080.4(CHRNE):c.831C>T (p.Ile277=)
|
rs755170993
|
0.00001
|
NM_000080.4(CHRNE):c.846C>G (p.Ala282=)
|
rs780429979
|
0.00001
|
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter)
|
rs748103983
|
0.00001
|
NM_000080.4(CHRNE):c.856T>G (p.Phe286Val)
|
rs756844933
|
0.00001
|
NM_000080.4(CHRNE):c.859T>C (p.Leu287=)
|
rs1969957668
|
0.00001
|
NM_000080.4(CHRNE):c.867C>G (p.Leu289=)
|
rs763590279
|
0.00001
|
NM_000080.4(CHRNE):c.873C>A (p.Ala291=)
|
rs1326940305
|
0.00001
|
NM_000080.4(CHRNE):c.900C>T (p.Ser300=)
|
rs747224472
|
0.00001
|
NM_000080.4(CHRNE):c.945C>T (p.Ala315=)
|
rs758560981
|
0.00001
|
NM_001145536.2(C17orf107):c.*1801G>T
|
rs374325420
|
0.00001
|
NM_001145536.2(C17orf107):c.*2240G>A
|
rs761183088
|
0.00001
|
NM_001145536.2(C17orf107):c.*251C>A
|
rs754325287
|
0.00001
|
NM_001145536.2(C17orf107):c.*252G>T
|
rs1337368697
|
0.00001
|
NM_001145536.2(C17orf107):c.*380G>A
|
rs961218388
|
0.00001
|
NM_001145536.2(C17orf107):c.*381G>A
|
rs1314331863
|
0.00001
|
NM_001145536.2(C17orf107):c.*382G>A
|
rs760314762
|
0.00001
|
NM_001145536.2(C17orf107):c.*666C>T
|
rs1382185555
|
0.00001
|
NM_001145536.2(C17orf107):c.-164G>C
|
rs771664527
|
0.00001
|
NC_000017.10:g.(?_4804800)_(4806078_?)dup
|
|
|
NC_000017.10:g.(?_4805539)_(4806690_?)del
|
|
|
NC_000017.11:g.(?_4901641)_(4903159_?)del
|
|
|
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter)
|
rs2151098928
|
|
NM_000080.4(CHRNE):c.105T>C (p.Tyr35=)
|
rs2151098928
|
|
NM_000080.4(CHRNE):c.107A>C (p.Asp36Ala)
|
rs886053127
|
|
NM_000080.4(CHRNE):c.108C>T (p.Asp36=)
|
|
|
NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs)
|
rs2151098905
|
|
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)
|
rs977512223
|
|
NM_000080.4(CHRNE):c.117C>T (p.Ser39=)
|
rs1970031660
|
|
NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs)
|
|
|
NM_000080.4(CHRNE):c.121C>T (p.Pro41Ser)
|
|
|
NM_000080.4(CHRNE):c.126G>A (p.Val42=)
|
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
NM_000080.4(CHRNE):c.132G>A (p.Glu44=)
|
rs2151098887
|
|
NM_000080.4(CHRNE):c.137A>G (p.Glu46Gly)
|
|
|
NM_000080.4(CHRNE):c.138G>A (p.Glu46=)
|
rs2151098883
|
|
NM_000080.4(CHRNE):c.141T>C (p.Asp47=)
|
|
|
NM_000080.4(CHRNE):c.147C>T (p.Val49=)
|
|
|
NM_000080.4(CHRNE):c.150C>T (p.Thr50=)
|
rs2151098879
|
|
NM_000080.4(CHRNE):c.154_155insTCAGGTGACATACTGAGGATGACATACTGTCATCCG (p.Ser52delinsIleArgTer)
|
rs2151098875
|
|
NM_000080.4(CHRNE):c.155G>A (p.Ser52Asn)
|
|
|
NM_000080.4(CHRNE):c.159C>G (p.Leu53=)
|
|
|
NM_000080.4(CHRNE):c.159C>T (p.Leu53=)
|
rs1970030477
|
|
NM_000080.4(CHRNE):c.176A>T (p.Asn59Ile)
|
|
|
NM_000080.4(CHRNE):c.177T>C (p.Asn59=)
|
|
|
NM_000080.4(CHRNE):c.178C>T (p.Leu60Phe)
|
|
|
NM_000080.4(CHRNE):c.181A>G (p.Ile61Val)
|
|
|
NM_000080.4(CHRNE):c.186A>G (p.Ser62=)
|
|
|
NM_000080.4(CHRNE):c.189+1G>A
|
|
|
NM_000080.4(CHRNE):c.189G>A (p.Leu63=)
|
|
|
NM_000080.4(CHRNE):c.190-2A>G
|
|
|
NM_000080.4(CHRNE):c.194A>G (p.Glu65Gly)
|
|
|
NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys)
|
rs149766604
|
|
NM_000080.4(CHRNE):c.202G>C (p.Glu68Gln)
|
rs149766604
|
|
NM_000080.4(CHRNE):c.207T>A (p.Thr69=)
|
|
|
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
|
|
|
NM_000080.4(CHRNE):c.210C>G (p.Leu70=)
|
rs750125430
|
|
NM_000080.4(CHRNE):c.210C>T (p.Leu70=)
|
rs750125430
|
|
NM_000080.4(CHRNE):c.213C>T (p.Thr71=)
|
rs764949297
|
|
NM_000080.4(CHRNE):c.216T>G (p.Thr72=)
|
|
|
NM_000080.4(CHRNE):c.219dup (p.Val74fs)
|
|
|
NM_000080.4(CHRNE):c.21G>C (p.Gly7=)
|
|
|
NM_000080.4(CHRNE):c.21G>T (p.Gly7=)
|
rs1166759787
|
|
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg)
|
rs193919341
|
|
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
|
|
|
NM_000080.4(CHRNE):c.235-2A>G
|
rs1597622118
|
|
NM_000080.4(CHRNE):c.235G>C (p.Asp79His)
|
rs1200020913
|
|
NM_000080.4(CHRNE):c.235G>T (p.Asp79Tyr)
|
rs1200020913
|
|
NM_000080.4(CHRNE):c.240G>A (p.Trp80Ter)
|
|
|
NM_000080.4(CHRNE):c.24C>A (p.Val8=)
|
rs147811172
|
|
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)
|
rs121909513
|
|
NM_000080.4(CHRNE):c.250del (p.Arg84fs)
|
rs1555547003
|
|
NM_000080.4(CHRNE):c.255C>G (p.Leu85=)
|
rs752486312
|
|
NM_000080.4(CHRNE):c.255C>T (p.Leu85=)
|
|
|
NM_000080.4(CHRNE):c.258C>T (p.Asn86=)
|
|
|
NM_000080.4(CHRNE):c.261C>T (p.Tyr87=)
|
|
|
NM_000080.4(CHRNE):c.264C>A (p.Ser88Arg)
|
|
|
NM_000080.4(CHRNE):c.264C>T (p.Ser88=)
|
|
|
NM_000080.4(CHRNE):c.264del (p.Ser88fs)
|
|
|
NM_000080.4(CHRNE):c.267G>A (p.Lys89=)
|
|
|
NM_000080.4(CHRNE):c.270C>T (p.Asp90=)
|
|
|
NM_000080.4(CHRNE):c.27G>A (p.Leu9=)
|
|
|
NM_000080.4(CHRNE):c.281G>T (p.Gly94Val)
|
|
|
NM_000080.4(CHRNE):c.281del (p.Gly94fs)
|
|
|
NM_000080.4(CHRNE):c.282T>C (p.Gly94=)
|
|
|
NM_000080.4(CHRNE):c.293dup (p.Arg99fs)
|
|
|
NM_000080.4(CHRNE):c.294G>T (p.Leu98=)
|
|
|
NM_000080.4(CHRNE):c.295C>A (p.Arg99=)
|
rs1278514080
|
|
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter)
|
rs1278514080
|
|
NM_000080.4(CHRNE):c.296G>A (p.Arg99Gln)
|
|
|
NM_000080.4(CHRNE):c.297A>C (p.Arg99=)
|
rs2151098555
|
|
NM_000080.4(CHRNE):c.297A>G (p.Arg99=)
|
|
|
NM_000080.4(CHRNE):c.301C>G (p.Pro101Ala)
|
|
|
NM_000080.4(CHRNE):c.30C>T (p.Leu10=)
|
|
|
NM_000080.4(CHRNE):c.313G>A (p.Val105Met)
|
|
|
NM_000080.4(CHRNE):c.313_319del (p.Val105fs)
|
|
|
NM_000080.4(CHRNE):c.315G>A (p.Val105=)
|
rs2151098541
|
|
NM_000080.4(CHRNE):c.316T>C (p.Trp106Arg)
|
|
|
NM_000080.4(CHRNE):c.316_317del (p.Trp106fs)
|
rs2151098538
|
|
NM_000080.4(CHRNE):c.318G>A (p.Trp106Ter)
|
|
|
NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs)
|
|
|
NM_000080.4(CHRNE):c.328A>G (p.Ile110Val)
|
|
|
NM_000080.4(CHRNE):c.333G>T (p.Val111=)
|
|
|
NM_000080.4(CHRNE):c.336G>A (p.Leu112=)
|
|
|
NM_000080.4(CHRNE):c.337G>A (p.Glu113Lys)
|
|
|
NM_000080.4(CHRNE):c.342dup (p.Asn115fs)
|
|
|
NM_000080.4(CHRNE):c.344+1G>A
|
rs879253722
|
|
NM_000080.4(CHRNE):c.345-1G>A
|
|
|
NM_000080.4(CHRNE):c.345-2A>G
|
|
|
NM_000080.4(CHRNE):c.345-2A>T
|
rs2151098412
|
|
NM_000080.4(CHRNE):c.346dup (p.Ile116fs)
|
|
|
NM_000080.4(CHRNE):c.348T>C (p.Ile116=)
|
|
|
NM_000080.4(CHRNE):c.353G>A (p.Gly118Asp)
|
rs1555546986
|
|
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
|
|
|
NM_000080.4(CHRNE):c.35T>C (p.Leu12Ser)
|
|
|
NM_000080.4(CHRNE):c.35T>G (p.Leu12Trp)
|
|
|
NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter)
|
rs1187421976
|
|
NM_000080.4(CHRNE):c.363A>G (p.Gly121=)
|
|
|
NM_000080.4(CHRNE):c.365T>C (p.Val122Ala)
|
|
|
NM_000080.4(CHRNE):c.366G>A (p.Val122=)
|
rs2151098392
|
|
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter)
|
rs894382905
|
|
NM_000080.4(CHRNE):c.375C>T (p.Asp125=)
|
|
|
NM_000080.4(CHRNE):c.376_377delinsTT (p.Ala126Phe)
|
|
|
NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr)
|
|
|
NM_000080.4(CHRNE):c.381C>T (p.Asn127=)
|
|
|
NM_000080.4(CHRNE):c.382G>A (p.Val128Met)
|
rs958078989
|
|
NM_000080.4(CHRNE):c.384G>A (p.Val128=)
|
|
|
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del)
|
rs1555546980
|
|
NM_000080.4(CHRNE):c.385_388del (p.Leu129fs)
|
rs1411229157
|
|
NM_000080.4(CHRNE):c.387C>A (p.Leu129=)
|
|
|
NM_000080.4(CHRNE):c.387C>G (p.Leu129=)
|
rs767908282
|
|
NM_000080.4(CHRNE):c.387C>T (p.Leu129=)
|
rs767908282
|
|
NM_000080.4(CHRNE):c.390C>T (p.Val130=)
|
|
|
NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter)
|
|
|
NM_000080.4(CHRNE):c.393C>T (p.Tyr131=)
|
rs1567639631
|
|
NM_000080.4(CHRNE):c.398G>A (p.Gly133Asp)
|
|
|
NM_000080.4(CHRNE):c.399C>T (p.Gly133=)
|
|
|
NM_000080.4(CHRNE):c.39G>A (p.Gly13=)
|
|
|
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile)
|
rs1970039895
|
|
NM_000080.4(CHRNE):c.400G>A (p.Gly134Ser)
|
|
|
NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs)
|
|
|
NM_000080.4(CHRNE):c.404C>G (p.Ser135Cys)
|
rs763181728
|
|
NM_000080.4(CHRNE):c.410C>A (p.Thr137Lys)
|
rs146089157
|
|
NM_000080.4(CHRNE):c.410C>T (p.Thr137Met)
|
rs146089157
|
|
NM_000080.4(CHRNE):c.411G>A (p.Thr137=)
|
|
|
NM_000080.4(CHRNE):c.415C>T (p.Leu139=)
|
rs776129600
|
|
NM_000080.4(CHRNE):c.419C>T (p.Pro140Leu)
|
|
|
NM_000080.4(CHRNE):c.41T>A (p.Leu14His)
|
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.426C>T (p.Ala142=)
|
rs1970007044
|
|
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
|
|
|
NM_000080.4(CHRNE):c.433C>T (p.Arg145Cys)
|
rs1064795871
|
|
NM_000080.4(CHRNE):c.438C>T (p.Ser146=)
|
rs776429372
|
|
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile)
|
rs771950733
|
|
NM_000080.4(CHRNE):c.439_440insGAGGTCA (p.Val147fs)
|
rs2151098295
|
|
NM_000080.4(CHRNE):c.441C>T (p.Val147=)
|
rs779058823
|
|
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)
|
rs1597621396
|
|
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
|
|
|
NM_000080.4(CHRNE):c.444C>T (p.Cys148=)
|
rs970593355
|
|
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs)
|
rs1597621353
|
|
NM_000080.4(CHRNE):c.447_459del (p.Val150fs)
|
rs1970005446
|
|
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)
|
rs2151098283
|
|
NM_000080.4(CHRNE):c.453_454dup (p.Val152fs)
|
|
|
NM_000080.4(CHRNE):c.455T>A (p.Val152Asp)
|
|
|
NM_000080.4(CHRNE):c.46+11G>A
|
|
|
NM_000080.4(CHRNE):c.46+19G>A
|
|
|
NM_000080.4(CHRNE):c.46+1G>T
|
rs746199600
|
|
NM_000080.4(CHRNE):c.46+2del
|
|
|
NM_000080.4(CHRNE):c.46+3A>G
|
|
|
NM_000080.4(CHRNE):c.46+4C>T
|
|
|
NM_000080.4(CHRNE):c.46+9_46+10del
|
rs2151099125
|
|
NM_000080.4(CHRNE):c.468C>G (p.Pro156=)
|
rs751830305
|
|
NM_000080.4(CHRNE):c.47-11dup
|
rs550750896
|
|
NM_000080.4(CHRNE):c.47-1G>A
|
|
|
NM_000080.4(CHRNE):c.477G>A (p.Trp159Ter)
|
|
|
NM_000080.4(CHRNE):c.486T>C (p.Cys162=)
|
rs2151098251
|
|
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.489G>A (p.Ser163=)
|
rs2151098246
|
|
NM_000080.4(CHRNE):c.489G>T (p.Ser163=)
|
|
|
NM_000080.4(CHRNE):c.48C>T (p.Gly16=)
|
|
|
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)
|
|
|
NM_000080.4(CHRNE):c.500+2T>C
|
|
|
NM_000080.4(CHRNE):c.501-10_504dup
|
rs768552387
|
|
NM_000080.4(CHRNE):c.501-16G>A
|
rs879255563
|
|
NM_000080.4(CHRNE):c.501-1G>C
|
|
|
NM_000080.4(CHRNE):c.505C>T (p.Gln169Ter)
|
|
|
NM_000080.4(CHRNE):c.506A>G (p.Gln169Arg)
|
|
|
NM_000080.4(CHRNE):c.507G>A (p.Gln169=)
|
|
|
NM_000080.4(CHRNE):c.509C>T (p.Thr170Met)
|
|
|
NM_000080.4(CHRNE):c.510G>T (p.Thr170=)
|
rs749454549
|
|
NM_000080.4(CHRNE):c.513C>T (p.Tyr171=)
|
rs1276027772
|
|
NM_000080.4(CHRNE):c.515A>G (p.Asn172Ser)
|
|
|
NM_000080.4(CHRNE):c.51G>A (p.Arg17=)
|
rs758923058
|
|
NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter)
|
|
|
NM_000080.4(CHRNE):c.528G>A (p.Val176=)
|
rs2151097833
|
|
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)
|
rs779816027
|
|
NM_000080.4(CHRNE):c.52G>A (p.Gly18Ser)
|
rs1970033624
|
|
NM_000080.4(CHRNE):c.530_531insCCAC (p.Glu177fs)
|
|
|
NM_000080.4(CHRNE):c.531G>A (p.Glu177=)
|
rs1597620349
|
|
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
|
|
|
NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala)
|
rs4790235
|
|
NM_000080.4(CHRNE):c.540T>C (p.Phe180=)
|
|
|
NM_000080.4(CHRNE):c.541G>A (p.Ala181Thr)
|
|
|
NM_000080.4(CHRNE):c.543C>T (p.Ala181=)
|
|
|
NM_000080.4(CHRNE):c.546A>G (p.Val182=)
|
|
|
NM_000080.4(CHRNE):c.549C>T (p.Asp183=)
|
rs2151097801
|
|
NM_000080.4(CHRNE):c.550A>T (p.Asn184Tyr)
|
|
|
NM_000080.4(CHRNE):c.551dup (p.Asn184fs)
|
|
|
NM_000080.4(CHRNE):c.552C>T (p.Asn184=)
|
rs978516236
|
|
NM_000080.4(CHRNE):c.558C>G (p.Gly186=)
|
rs761643342
|
|
NM_000080.4(CHRNE):c.560A>T (p.Lys187Met)
|
|
|
NM_000080.4(CHRNE):c.567C>A (p.Ile189=)
|
|
|
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
|
|
|
NM_000080.4(CHRNE):c.570C>T (p.Asn190=)
|
rs1969985137
|
|
NM_000080.4(CHRNE):c.572A>T (p.Lys191Met)
|
rs1555546863
|
|
NM_000080.4(CHRNE):c.577G>A (p.Asp193Asn)
|
|
|
NM_000080.4(CHRNE):c.57G>A (p.Val19=)
|
|
|
NM_000080.4(CHRNE):c.582C>A (p.Ile194=)
|
rs2151097756
|
|
NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn)
|
|
|
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr)
|
rs774425374
|
|
NM_000080.4(CHRNE):c.589G>T (p.Glu197Ter)
|
|
|
NM_000080.4(CHRNE):c.58G>A (p.Gly20Arg)
|
|
|
NM_000080.4(CHRNE):c.590_591del (p.Glu197fs)
|
rs2151097742
|
|
NM_000080.4(CHRNE):c.594C>T (p.Ala198=)
|
rs2151097737
|
|
NM_000080.4(CHRNE):c.599C>G (p.Thr200Ser)
|
rs1969983733
|
|
NM_000080.4(CHRNE):c.601+1G>T
|
|
|
NM_000080.4(CHRNE):c.601+8C>T
|
rs539874157
|
|
NM_000080.4(CHRNE):c.602-10C>T
|
rs765175027
|
|
NM_000080.4(CHRNE):c.602-1G>A
|
|
|
NM_000080.4(CHRNE):c.602-4_602-3delinsTT
|
rs1597619689
|
|
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
|
|
|
NM_000080.4(CHRNE):c.605del (p.Asn202fs)
|
|
|
NM_000080.4(CHRNE):c.606_619del (p.Gly203fs)
|
rs1969973509
|
|
NM_000080.4(CHRNE):c.609C>A (p.Gly203=)
|
rs912870458
|
|
NM_000080.4(CHRNE):c.609C>G (p.Gly203=)
|
rs912870458
|
|
NM_000080.4(CHRNE):c.609C>T (p.Gly203=)
|
|
|
NM_000080.4(CHRNE):c.60G>A (p.Gly20=)
|
rs2151098969
|
|
NM_000080.4(CHRNE):c.612G>A (p.Glu204=)
|
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs)
|
rs1969972830
|
|
NM_000080.4(CHRNE):c.619A>G (p.Ile207Val)
|
rs1422386099
|
|
NM_000080.4(CHRNE):c.621C>A (p.Ile207=)
|
rs2151097478
|
|
NM_000080.4(CHRNE):c.621C>T (p.Ile207=)
|
rs2151097478
|
|
NM_000080.4(CHRNE):c.627C>G (p.Phe209Leu)
|
|
|
NM_000080.4(CHRNE):c.628T>C (p.Cys210Arg)
|
rs2151097468
|
|
NM_000080.4(CHRNE):c.62A>G (p.Lys21Arg)
|
rs1970033266
|
|
NM_000080.4(CHRNE):c.630C>T (p.Cys210=)
|
|
|
NM_000080.4(CHRNE):c.639G>A (p.Val213=)
|
rs1969972651
|
|
NM_000080.4(CHRNE):c.63G>A (p.Lys21=)
|
rs2151098964
|
|
NM_000080.4(CHRNE):c.644GCC[3] (p.Arg216_His217insArg)
|
|
|
NM_000080.4(CHRNE):c.645C>T (p.Arg215=)
|
rs2151097437
|
|
NM_000080.4(CHRNE):c.647_653dup (p.His218fs)
|
rs2151097420
|
|
NM_000080.4(CHRNE):c.648C>T (p.Arg216=)
|
rs2151097429
|
|
NM_000080.4(CHRNE):c.651C>T (p.His217=)
|
rs564044217
|
|
NM_000080.4(CHRNE):c.653A>C (p.His218Pro)
|
|
|
NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs)
|
|
|
NM_000080.4(CHRNE):c.654C>T (p.His218=)
|
rs751388919
|
|
NM_000080.4(CHRNE):c.657T>A (p.Gly219=)
|
rs1969971346
|
|
NM_000080.4(CHRNE):c.660C>A (p.Gly220=)
|
rs1969971072
|
|
NM_000080.4(CHRNE):c.660C>T (p.Gly220=)
|
rs1969971072
|
|
NM_000080.4(CHRNE):c.661G>A (p.Ala221Thr)
|
|
|
NM_000080.4(CHRNE):c.666C>G (p.Thr222=)
|
|
|
NM_000080.4(CHRNE):c.666C>T (p.Thr222=)
|
rs1224426288
|
|
NM_000080.4(CHRNE):c.670G>A (p.Gly224Ser)
|
|
|
NM_000080.4(CHRNE):c.672C>A (p.Gly224=)
|
rs2151097392
|
|
NM_000080.4(CHRNE):c.673C>A (p.Pro225Thr)
|
|
|
NM_000080.4(CHRNE):c.675A>G (p.Pro225=)
|
|
|
NM_000080.4(CHRNE):c.678G>A (p.Gly226=)
|
rs1431059369
|
|
NM_000080.4(CHRNE):c.67G>T (p.Glu23Ter)
|
|
|
NM_000080.4(CHRNE):c.682A>G (p.Thr228Ala)
|
|
|
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)
|
rs1597619440
|
|
NM_000080.4(CHRNE):c.686A>T (p.Asp229Val)
|
|
|
NM_000080.4(CHRNE):c.687C>T (p.Asp229=)
|
rs1479728021
|
|
NM_000080.4(CHRNE):c.687del (p.Asp229fs)
|
|
|
NM_000080.4(CHRNE):c.690C>A (p.Val230=)
|
rs1597619417
|
|
NM_000080.4(CHRNE):c.690C>T (p.Val230=)
|
rs1597619417
|
|
NM_000080.4(CHRNE):c.693del (p.Tyr232fs)
|
|
|
NM_000080.4(CHRNE):c.694T>C (p.Tyr232His)
|
rs2151097342
|
|
NM_000080.4(CHRNE):c.695_697del (p.Tyr232del)
|
|
|
NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)
|
|
|
NM_000080.4(CHRNE):c.696C>T (p.Tyr232=)
|
rs1284899632
|
|
NM_000080.4(CHRNE):c.699G>C (p.Ser233=)
|
rs375146171
|
|
NM_000080.4(CHRNE):c.702C>A (p.Leu234=)
|
|
|
NM_000080.4(CHRNE):c.705C>A (p.Ile235=)
|
rs748765369
|
|
NM_000080.4(CHRNE):c.705C>T (p.Ile235=)
|
rs748765369
|
|
NM_000080.4(CHRNE):c.709C>T (p.Arg237Cys)
|
|
|
NM_000080.4(CHRNE):c.710G>A (p.Arg237His)
|
rs201434993
|
|
NM_000080.4(CHRNE):c.711C>T (p.Arg237=)
|
|
|
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp)
|
rs1567638676
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000080.4(CHRNE):c.714G>A (p.Arg238=)
|
rs768299579
|
|
NM_000080.4(CHRNE):c.717G>A (p.Lys239=)
|
|
|
NM_000080.4(CHRNE):c.720G>A (p.Pro240=)
|
|
|
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)
|
rs28999110
|
|
NM_000080.4(CHRNE):c.725T>G (p.Phe242Cys)
|
rs1969968160
|
|
NM_000080.4(CHRNE):c.726del (p.Tyr243fs)
|
|
|
NM_000080.4(CHRNE):c.729C>T (p.Tyr243=)
|
|
|
NM_000080.4(CHRNE):c.72del (p.Glu24fs)
|
|
|
NM_000080.4(CHRNE):c.738C>T (p.Asn246=)
|
rs2151097269
|
|
NM_000080.4(CHRNE):c.739ATC[1] (p.Ile248del)
|
|
|
NM_000080.4(CHRNE):c.741C>T (p.Ile247=)
|
rs1969967603
|
|
NM_000080.4(CHRNE):c.742A>C (p.Ile248Leu)
|
|
|
NM_000080.4(CHRNE):c.744C>G (p.Ile248Met)
|
|
|
NM_000080.4(CHRNE):c.747G>C (p.Val249=)
|
|
|
NM_000080.4(CHRNE):c.750_751del (p.Val252fs)
|
|
|
NM_000080.4(CHRNE):c.751T>A (p.Cys251Ser)
|
rs867237170
|
|
NM_000080.4(CHRNE):c.753T>C (p.Cys251=)
|
|
|
NM_000080.4(CHRNE):c.759C>A (p.Leu253=)
|
rs1969966911
|
|
NM_000080.4(CHRNE):c.75G>A (p.Leu25=)
|
rs2151098953
|
|
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)
|
|
|
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)
|
rs1555546765
|
|
NM_000080.4(CHRNE):c.765G>A (p.Ser255=)
|
|
|
NM_000080.4(CHRNE):c.765G>C (p.Ser255=)
|
|
|
NM_000080.4(CHRNE):c.769C>T (p.Leu257=)
|
|
|
NM_000080.4(CHRNE):c.771G>C (p.Leu257=)
|
|
|
NM_000080.4(CHRNE):c.775C>T (p.Leu259=)
|
rs2151097232
|
|
NM_000080.4(CHRNE):c.778C>T (p.Leu260Phe)
|
rs1567638591
|
|
NM_000080.4(CHRNE):c.77G>A (p.Arg26His)
|
rs188661284
|
|
NM_000080.4(CHRNE):c.780C>A (p.Leu260=)
|
|
|
NM_000080.4(CHRNE):c.783C>T (p.Ala261=)
|
|
|
NM_000080.4(CHRNE):c.784T>C (p.Tyr262His)
|
|
|
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
|
|
|
NM_000080.4(CHRNE):c.786C>T (p.Tyr262=)
|
rs2151097217
|
|
NM_000080.4(CHRNE):c.789C>T (p.Phe263=)
|
rs761487611
|
|
NM_000080.4(CHRNE):c.790C>T (p.Leu264=)
|
|
|
NM_000080.4(CHRNE):c.790del (p.Leu264fs)
|
|
|
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser)
|
rs2151097209
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.794del (p.Pro265fs)
|
rs756675414
|
|
NM_000080.4(CHRNE):c.798G>A (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.798G>C (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.798G>T (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.802+1G>A
|
|
|
NM_000080.4(CHRNE):c.802+2T>A
|
|
|
NM_000080.4(CHRNE):c.802+2T>C
|
rs2151097188
|
|
NM_000080.4(CHRNE):c.802+9T>C
|
rs199876621
|
|
NM_000080.4(CHRNE):c.802G>C (p.Ala268Pro)
|
|
|
NM_000080.4(CHRNE):c.803-1G>T
|
|
|
NM_000080.4(CHRNE):c.807C>T (p.Gly269=)
|
|
|
NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser)
|
rs1447784617
|
|
NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter)
|
|
|
NM_000080.4(CHRNE):c.816A>G (p.Lys272=)
|
|
|
NM_000080.4(CHRNE):c.822G>A (p.Thr274=)
|
|
|
NM_000080.4(CHRNE):c.825C>A (p.Val275=)
|
|
|
NM_000080.4(CHRNE):c.828C>T (p.Ser276=)
|
rs1969960127
|
|
NM_000080.4(CHRNE):c.829A>G (p.Ile277Val)
|
|
|
NM_000080.4(CHRNE):c.829dup (p.Ile277fs)
|
rs2151097082
|
|
NM_000080.4(CHRNE):c.832A>T (p.Asn278Tyr)
|
rs1284578156
|
|
NM_000080.4(CHRNE):c.834C>T (p.Asn278=)
|
rs996197218
|
|
NM_000080.4(CHRNE):c.835G>T (p.Val279Phe)
|
rs1597618854
|
|
NM_000080.4(CHRNE):c.838C>T (p.Leu280=)
|
rs900612569
|
|
NM_000080.4(CHRNE):c.846C>T (p.Ala282=)
|
|
|
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)
|
rs773929089
|
|
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs)
|
rs1567638401
|
|
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro)
|
rs121909510
|
|
NM_000080.4(CHRNE):c.851C>T (p.Thr284Ile)
|
|
|
NM_000080.4(CHRNE):c.851_852delinsAG (p.Thr284Lys)
|
|
|
NM_000080.4(CHRNE):c.852del (p.Val285fs)
|
|
|
NM_000080.4(CHRNE):c.853G>A (p.Val285Ile)
|
|
|
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala)
|
rs1597618787
|
|
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
|
|
|
NM_000080.4(CHRNE):c.858C>T (p.Phe286=)
|
rs1597618773
|
|
NM_000080.4(CHRNE):c.864C>T (p.Phe288=)
|
rs1282925982
|
|
NM_000080.4(CHRNE):c.865C>G (p.Leu289Val)
|
|
|
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)
|
rs121909511
|
|
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
|
|
|
NM_000080.4(CHRNE):c.867C>T (p.Leu289=)
|
|
|
NM_000080.4(CHRNE):c.870T>C (p.Ile290=)
|
rs775157123
|
|
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
|
|
|
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
|
|
|
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
|
|
|
NM_000080.4(CHRNE):c.87C>T (p.His29=)
|
rs1567640279
|
|
NM_000080.4(CHRNE):c.880dup (p.Ile294fs)
|
|
|
NM_000080.4(CHRNE):c.883C>G (p.Pro295Ala)
|
|
|
NM_000080.4(CHRNE):c.885A>G (p.Pro295=)
|
rs1597618703
|
|
NM_000080.4(CHRNE):c.890C>T (p.Thr297Ile)
|
rs770980262
|
|
NM_000080.4(CHRNE):c.891T>G (p.Thr297=)
|
rs1969956471
|
|
NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)
|
|
|
NM_000080.4(CHRNE):c.892_894del (p.Ser298del)
|
rs398122830
|
|
NM_000080.4(CHRNE):c.894T>G (p.Ser298=)
|
rs2151097016
|
|
NM_000080.4(CHRNE):c.895C>T (p.Leu299=)
|
rs2151097014
|
|
NM_000080.4(CHRNE):c.897G>A (p.Leu299=)
|
rs2151097007
|
|
NM_000080.4(CHRNE):c.899G>C (p.Ser300Thr)
|
rs776585678
|
|
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)
|
rs979787967
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.906G>T (p.Pro302=)
|
rs374156332
|
|
NM_000080.4(CHRNE):c.909C>G (p.Leu303=)
|
|
|
NM_000080.4(CHRNE):c.915C>A (p.Gly305=)
|
rs992228063
|
|
NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly)
|
rs1969955431
|
|
NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)
|
|
|
NM_000080.4(CHRNE):c.917+7C>T
|
rs961101973
|
|
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)
|
rs2151096983
|
|
NM_000080.4(CHRNE):c.918-1G>A
|
rs1407243713
|
|
NM_000080.4(CHRNE):c.918-8C>T
|
rs1597615600
|
|
NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser)
|
rs1453842961
|
|
NM_000080.4(CHRNE):c.922del (p.Ile309fs)
|
|
|
NM_000080.4(CHRNE):c.924T>G (p.Leu308=)
|
|
|
NM_000080.4(CHRNE):c.929del (p.Phe310fs)
|
|
|
NM_000080.4(CHRNE):c.933C>G (p.Val311=)
|
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_000080.4(CHRNE):c.948G>C (p.Thr316=)
|
|
|
NM_000080.4(CHRNE):c.948G>T (p.Thr316=)
|
rs144207552
|
|
NM_000080.4(CHRNE):c.949C>G (p.Leu317Val)
|
|
|
NM_000080.4(CHRNE):c.951C>G (p.Leu317=)
|
rs757563966
|
|
NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)
|
|
|
NM_000080.4(CHRNE):c.957C>A (p.Val319=)
|
|
|
NM_000080.4(CHRNE):c.957C>T (p.Val319=)
|
rs1244564448
|
|
NM_000080.4(CHRNE):c.960G>A (p.Met320Ile)
|
|
|
NM_000080.4(CHRNE):c.96C>T (p.Phe32=)
|
|
|
NM_000080.4(CHRNE):c.99C>T (p.Asn33=)
|
|
|
NM_001145536.2(C17orf107):c.*1010C>G
|
rs774425374
|
|
NM_001145536.2(C17orf107):c.*1095G>A
|
|
|
NM_001145536.2(C17orf107):c.*1096C>A
|
|
|
NM_001145536.2(C17orf107):c.*1096C>T
|
rs2151097867
|
|
NM_001145536.2(C17orf107):c.*1097G>A
|
|
|
NM_001145536.2(C17orf107):c.*1099A>G
|
|
|
NM_001145536.2(C17orf107):c.*1103_*1115dup
|
|
|
NM_001145536.2(C17orf107):c.*1104G>C
|
|
|
NM_001145536.2(C17orf107):c.*1107C>T
|
|
|
NM_001145536.2(C17orf107):c.*1109G>A
|
|
|
NM_001145536.2(C17orf107):c.*1110G>A
|
|
|
NM_001145536.2(C17orf107):c.*1111G>A
|
|
|
NM_001145536.2(C17orf107):c.*1381C>T
|
|
|
NM_001145536.2(C17orf107):c.*1382G>A
|
|
|
NM_001145536.2(C17orf107):c.*1383G>A
|
|
|
NM_001145536.2(C17orf107):c.*1390T>G
|
|
|
NM_001145536.2(C17orf107):c.*1390_*1391delinsAA
|
rs2151098237
|
|
NM_001145536.2(C17orf107):c.*1391C>A
|
|
|
NM_001145536.2(C17orf107):c.*1558T>C
|
|
|
NM_001145536.2(C17orf107):c.*1562C>T
|
rs2151098423
|
|
NM_001145536.2(C17orf107):c.*1567G>A
|
|
|
NM_001145536.2(C17orf107):c.*1571A>T
|
|
|
NM_001145536.2(C17orf107):c.*1573C>A
|
|
|
NM_001145536.2(C17orf107):c.*1573C>G
|
|
|
NM_001145536.2(C17orf107):c.*1573C>T
|
|
|
NM_001145536.2(C17orf107):c.*1574G>A
|
|
|
NM_001145536.2(C17orf107):c.*1574G>C
|
|
|
NM_001145536.2(C17orf107):c.*1670G>T
|
|
|
NM_001145536.2(C17orf107):c.*1674C>T
|
|
|
NM_001145536.2(C17orf107):c.*1675G>A
|
rs371037732
|
|
NM_001145536.2(C17orf107):c.*1675G>C
|
rs371037732
|
|
NM_001145536.2(C17orf107):c.*1676G>A
|
rs2151098517
|
|
NM_001145536.2(C17orf107):c.*1677T>C
|
|
|
NM_001145536.2(C17orf107):c.*1798G>C
|
|
|
NM_001145536.2(C17orf107):c.*1799G>T
|
|
|
NM_001145536.2(C17orf107):c.*1800G>A
|
|
|
NM_001145536.2(C17orf107):c.*1803G>A
|
rs778566436
|
|
NM_001145536.2(C17orf107):c.*1803G>T
|
|
|
NM_001145536.2(C17orf107):c.*1808A>G
|
|
|
NM_001145536.2(C17orf107):c.*1809T>C
|
|
|
NM_001145536.2(C17orf107):c.*1810G>A
|
|
|
NM_001145536.2(C17orf107):c.*1811G>T
|
|
|
NM_001145536.2(C17orf107):c.*1897A>T
|
|
|
NM_001145536.2(C17orf107):c.*1900C>T
|
|
|
NM_001145536.2(C17orf107):c.*1910G>A
|
|
|
NM_001145536.2(C17orf107):c.*1965C>T
|
|
|
NM_001145536.2(C17orf107):c.*1968A>G
|
rs2151098764
|
|
NM_001145536.2(C17orf107):c.*1970G>C
|
|
|
NM_001145536.2(C17orf107):c.*1971G>A
|
rs2151098767
|
|
NM_001145536.2(C17orf107):c.*1974G>C
|
|
|
NM_001145536.2(C17orf107):c.*1978G>C
|
|
|
NM_001145536.2(C17orf107):c.*2072G>T
|
|
|
NM_001145536.2(C17orf107):c.*2074T>G
|
|
|
NM_001145536.2(C17orf107):c.*2075G>A
|
|
|
NM_001145536.2(C17orf107):c.*2076G>A
|
|
|
NM_001145536.2(C17orf107):c.*2078G>A
|
|
|
NM_001145536.2(C17orf107):c.*2078G>C
|
rs1341882862
|
|
NM_001145536.2(C17orf107):c.*2078G>T
|
|
|
NM_001145536.2(C17orf107):c.*2079G>T
|
|
|
NM_001145536.2(C17orf107):c.*2081dup
|
|
|
NM_001145536.2(C17orf107):c.*2234C>T
|
rs767084417
|
|
NM_001145536.2(C17orf107):c.*2236A>G
|
|
|
NM_001145536.2(C17orf107):c.*2241G>A
|
|
|
NM_001145536.2(C17orf107):c.*2244A>G
|
|
|
NM_001145536.2(C17orf107):c.*240C>T
|
|
|
NM_001145536.2(C17orf107):c.*241G>T
|
|
|
NM_001145536.2(C17orf107):c.*242C>T
|
|
|
NM_001145536.2(C17orf107):c.*243G>A
|
|
|
NM_001145536.2(C17orf107):c.*243G>C
|
|
|
NM_001145536.2(C17orf107):c.*244G>A
|
|
|
NM_001145536.2(C17orf107):c.*245G>A
|
|
|
NM_001145536.2(C17orf107):c.*247G>A
|
|
|
NM_001145536.2(C17orf107):c.*247dup
|
rs772869952
|
|
NM_001145536.2(C17orf107):c.*251C>T
|
rs754325287
|
|
NM_001145536.2(C17orf107):c.*252G>A
|
rs1337368697
|
|
NM_001145536.2(C17orf107):c.*253G>T
|
|
|
NM_001145536.2(C17orf107):c.*368_*378del
|
|
|
NM_001145536.2(C17orf107):c.*381_*390dup
|
rs767922649
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NM_001145536.2(C17orf107):c.*384G>A
|
rs1326169288
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NM_001145536.2(C17orf107):c.*384G>C
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NM_001145536.2(C17orf107):c.*386G>A
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NM_001145536.2(C17orf107):c.*386G>C
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NM_001145536.2(C17orf107):c.*386del
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NM_001145536.2(C17orf107):c.*388_*397dup
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NM_001145536.2(C17orf107):c.*389A>G
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NM_001145536.2(C17orf107):c.*390G>T
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NM_001145536.2(C17orf107):c.*439T>C
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NM_001145536.2(C17orf107):c.*439T>G
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NM_001145536.2(C17orf107):c.*441C>T
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NM_001145536.2(C17orf107):c.*442G>C
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NM_001145536.2(C17orf107):c.*445G>A
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NM_001145536.2(C17orf107):c.*447C>T
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rs2151097179
|
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NM_001145536.2(C17orf107):c.*448A>C
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rs199876621
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NM_001145536.2(C17orf107):c.*661C>A
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|
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NM_001145536.2(C17orf107):c.*661C>T
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|
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NM_001145536.2(C17orf107):c.*662G>A
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rs764599384
|
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NM_001145536.2(C17orf107):c.*663G>A
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|
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NM_001145536.2(C17orf107):c.*664G>A
|
rs1298446963
|
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NM_001145536.2(C17orf107):c.*664_*665insTC
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|
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NM_001145536.2(C17orf107):c.*666C>A
|
rs1382185555
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NM_001145536.2(C17orf107):c.*667G>C
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rs765175027
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NM_001145536.2(C17orf107):c.*668G>T
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|
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NM_001145536.2(C17orf107):c.*669G>A
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NM_001145536.2(C17orf107):c.*670G>A
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|
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NM_001145536.2(C17orf107):c.*671G>A
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|
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NM_001145536.2(C17orf107):c.*671G>C
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|
|
NM_001145536.2(C17orf107):c.*671G>T
|
rs202127846
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NM_001145536.2(C17orf107):c.*671del
|
rs2151097507
|
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NM_001145536.2(C17orf107):c.*674C>T
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|
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NM_001145536.2(C17orf107):c.*675G>A
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NM_001145536.2(C17orf107):c.*676G>A
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NM_001145536.2(C17orf107):c.*973del
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|
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NM_001145536.2(C17orf107):c.*978G>A
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|
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NM_001145536.2(C17orf107):c.*978G>C
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|
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NM_001145536.2(C17orf107):c.*983G>A
|
rs2151097723
|
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NM_001145536.2(C17orf107):c.*985G>T
|
rs748517215
|
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NM_001145536.2(C17orf107):c.-162A>G
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|
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NM_001145536.2(C17orf107):c.-164G>A
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|
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NM_001145536.2(C17orf107):c.-164G>T
|
|
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NM_001145536.2(C17orf107):c.-165G>A
|
|
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NM_001145536.2(C17orf107):c.-167A>C
|
|
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NM_001145536.2(C17orf107):c.-168G>A
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|
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NM_001145536.2(C17orf107):c.-169G>A
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|
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NM_001145536.2(C17orf107):c.-171C>G
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|
|
NM_001145536.2(C17orf107):c.-172C>T
|
rs2151095352
|
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NM_001145536.2(C17orf107):c.-173G>C
|
rs1597615600
|
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NM_001145536.2(C17orf107):c.-175G>A
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|
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NM_001145536.2(C17orf107):c.-176G>A
|
rs1386033276
|
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NM_001145536.2(C17orf107):c.-177A>G
|
rs1300080950
|
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NM_001145536.2(C17orf107):c.562G>C (p.Gly188Arg)
|
rs1490577163
|
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