NM_001113378.2(FANCI):c.2547= (p.Lys849=)
|
rs7183618
|
0.95848
|
NM_001113378.2(FANCI):c.1698+15C>T
|
rs9806604
|
0.46880
|
NM_001113378.2(FANCI):c.3006+15A>C
|
rs2159081
|
0.37877
|
NM_001113378.2(FANCI):c.545+19C>T
|
rs1981623
|
0.37220
|
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val)
|
rs17803620
|
0.31885
|
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser)
|
rs2283432
|
0.29667
|
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=)
|
rs11857960
|
0.07285
|
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu)
|
rs35875311
|
0.07245
|
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu)
|
rs62020347
|
0.04602
|
NM_001113378.2(FANCI):c.2547A>G (p.Lys849=)
|
rs7183618
|
0.04152
|
NM_001113378.2(FANCI):c.1294-8C>T
|
rs16942931
|
0.03299
|
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=)
|
rs16942969
|
0.03295
|
NM_001113378.2(FANCI):c.3651+19G>A
|
rs73472624
|
0.01789
|
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile)
|
rs76788798
|
0.01679
|
NM_001113378.2(FANCI):c.868G>A (p.Val290Met)
|
rs113772230
|
0.01634
|
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=)
|
rs34557339
|
0.01219
|
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=)
|
rs34405660
|
0.00772
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)
|
rs114810692
|
0.00625
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
NM_001113378.2(FANCI):c.1699-7C>A
|
rs28446881
|
0.00498
|
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys)
|
rs28378332
|
0.00462
|
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=)
|
rs34462132
|
0.00456
|
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)
|
rs79080874
|
0.00400
|
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser)
|
rs79685648
|
0.00388
|
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=)
|
rs11556721
|
0.00322
|
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
NM_001113378.2(FANCI):c.3255+6dup
|
rs878854178
|
0.00258
|
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)
|
rs139814895
|
0.00257
|
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp)
|
rs118031800
|
0.00251
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)
|
rs3743377
|
0.00228
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
NM_001113378.2(FANCI):c.2447C>G (p.Ala816Gly)
|
rs151178507
|
0.00188
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)
|
rs114549781
|
0.00150
|
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn)
|
rs145192583
|
0.00147
|
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
NM_001113378.2(FANCI):c.753C>T (p.Asp251=)
|
rs151169233
|
0.00124
|
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
0.00083
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)
|
rs149243307
|
0.00063
|
NM_001113378.2(FANCI):c.1584-15C>G
|
rs199531931
|
0.00058
|
NM_001113378.2(FANCI):c.1698+16G>A
|
rs142941067
|
0.00057
|
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)
|
rs118138806
|
0.00053
|
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly)
|
rs61744917
|
0.00051
|
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val)
|
rs150544323
|
0.00043
|
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)
|
rs138663330
|
0.00038
|
NM_001113378.2(FANCI):c.1992+10T>C
|
rs375345390
|
0.00036
|
NM_001113378.2(FANCI):c.2291+12C>G
|
rs369540539
|
0.00034
|
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr)
|
rs139181400
|
0.00031
|
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)
|
rs149223439
|
0.00028
|
NM_001113378.2(FANCI):c.528A>G (p.Gln176=)
|
rs145939211
|
0.00027
|
NM_001113378.2(FANCI):c.1822-18C>T
|
rs373603139
|
0.00026
|
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
|
rs201037656
|
0.00024
|
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)
|
rs191202700
|
0.00022
|
NM_001113378.2(FANCI):c.3006+11C>T
|
rs372049835
|
0.00021
|
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
|
rs147873714
|
0.00020
|
NM_001113378.2(FANCI):c.1699-3C>G
|
rs372441627
|
0.00020
|
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro)
|
rs554876309
|
0.00019
|
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile)
|
rs142969866
|
0.00019
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)
|
rs140357734
|
0.00018
|
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg)
|
rs146040966
|
0.00016
|
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met)
|
rs374363189
|
0.00016
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
0.00016
|
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg)
|
rs555904350
|
0.00016
|
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=)
|
rs768378979
|
0.00016
|
NM_001113378.2(FANCI):c.882+15G>T
|
rs199522855
|
0.00016
|
NM_001113378.2(FANCI):c.446-6T>G
|
rs377255054
|
0.00015
|
NM_001113378.2(FANCI):c.882+10A>G
|
rs370227185
|
0.00014
|
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=)
|
rs147934193
|
0.00013
|
NM_001113378.2(FANCI):c.3677C>T (p.Thr1226Met)
|
rs367665900
|
0.00013
|
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe)
|
rs199502679
|
0.00012
|
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
|
rs151038616
|
0.00011
|
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)
|
rs140404896
|
0.00011
|
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=)
|
rs567952571
|
0.00011
|
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)
|
rs141879625
|
0.00010
|
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys)
|
rs144419129
|
0.00010
|
NM_001113378.2(FANCI):c.2890-13C>T
|
rs377269890
|
0.00010
|
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly)
|
rs112932178
|
0.00010
|
NM_001113378.2(FANCI):c.165C>T (p.Pro55=)
|
rs139039885
|
0.00009
|
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)
|
rs140965103
|
0.00009
|
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg)
|
rs200026076
|
0.00009
|
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)
|
rs377165815
|
0.00009
|
NM_001113378.2(FANCI):c.669+14A>G
|
rs369804967
|
0.00008
|
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys)
|
rs368711186
|
0.00008
|
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg)
|
rs139072231
|
0.00007
|
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala)
|
rs767847271
|
0.00007
|
NM_001113378.2(FANCI):c.754G>A (p.Glu252Lys)
|
rs776911782
|
0.00007
|
NM_001113378.2(FANCI):c.793C>T (p.Arg265Cys)
|
rs753511061
|
0.00007
|
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
|
rs149008055
|
0.00006
|
NM_001113378.2(FANCI):c.1112+3A>G
|
rs367970067
|
0.00006
|
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg)
|
rs377227097
|
0.00006
|
NM_001113378.2(FANCI):c.1734C>T (p.Val578=)
|
rs536499156
|
0.00006
|
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=)
|
rs563218968
|
0.00006
|
NM_001113378.2(FANCI):c.1972A>T (p.Ile658Phe)
|
rs745308624
|
0.00006
|
NM_001113378.2(FANCI):c.2023T>C (p.Leu675=)
|
rs144800324
|
0.00006
|
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys)
|
rs1414995711
|
0.00006
|
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val)
|
rs377308647
|
0.00006
|
NM_001113378.2(FANCI):c.2292-11G>C
|
rs763570868
|
0.00006
|
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly)
|
rs768500794
|
0.00006
|
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)
|
rs933284199
|
0.00006
|
NM_001113378.2(FANCI):c.2751T>C (p.Ser917=)
|
rs202135041
|
0.00006
|
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln)
|
rs142322239
|
0.00006
|
NM_001113378.2(FANCI):c.288+10C>T
|
rs370505986
|
0.00006
|
NM_001113378.2(FANCI):c.288+3A>G
|
rs538283826
|
0.00006
|
NM_001113378.2(FANCI):c.2890-19G>A
|
rs758850736
|
0.00006
|
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp)
|
rs755403672
|
0.00006
|
NM_001113378.2(FANCI):c.546-19T>C
|
rs111301033
|
0.00006
|
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn)
|
rs779604966
|
0.00006
|
NM_001113378.2(FANCI):c.798T>C (p.His266=)
|
rs148856789
|
0.00006
|
NM_001113378.2(FANCI):c.1113-10G>C
|
rs756650711
|
0.00005
|
NM_001113378.2(FANCI):c.1248G>A (p.Gln416=)
|
rs998334333
|
0.00005
|
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)
|
rs376956791
|
0.00005
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp)
|
rs371568506
|
0.00005
|
NM_001113378.2(FANCI):c.1704T>C (p.His568=)
|
rs200990786
|
0.00005
|
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser)
|
rs573652425
|
0.00005
|
NM_001113378.2(FANCI):c.1891-3C>T
|
rs371578898
|
0.00005
|
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=)
|
rs762453164
|
0.00005
|
NM_001113378.2(FANCI):c.3007-7A>G
|
rs778906473
|
0.00005
|
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp)
|
rs149167939
|
0.00005
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
NM_001113378.2(FANCI):c.534C>T (p.Thr178=)
|
rs754733731
|
0.00005
|
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg)
|
rs772035961
|
0.00005
|
NM_001113378.2(FANCI):c.1113-11T>C
|
rs112986525
|
0.00004
|
NM_001113378.2(FANCI):c.1146C>T (p.Leu382=)
|
rs773475822
|
0.00004
|
NM_001113378.2(FANCI):c.1200T>C (p.Asp400=)
|
rs763959132
|
0.00004
|
NM_001113378.2(FANCI):c.157+7A>G
|
rs145165730
|
0.00004
|
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr)
|
rs147963936
|
0.00004
|
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser)
|
rs866290050
|
0.00004
|
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn)
|
rs374176569
|
0.00004
|
NM_001113378.2(FANCI):c.179C>G (p.Ala60Gly)
|
rs757018470
|
0.00004
|
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys)
|
rs764435343
|
0.00004
|
NM_001113378.2(FANCI):c.2097C>T (p.Tyr699=)
|
rs148415946
|
0.00004
|
NM_001113378.2(FANCI):c.2146A>G (p.Ser716Gly)
|
rs376641420
|
0.00004
|
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)
|
rs752114490
|
0.00004
|
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=)
|
rs139857614
|
0.00004
|
NM_001113378.2(FANCI):c.2419A>G (p.Met807Val)
|
rs750348956
|
0.00004
|
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
|
rs145665176
|
0.00004
|
NM_001113378.2(FANCI):c.277C>T (p.Leu93=)
|
rs995731282
|
0.00004
|
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=)
|
rs368915464
|
0.00004
|
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met)
|
rs138432305
|
0.00004
|
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser)
|
rs182154506
|
0.00004
|
NM_001113378.2(FANCI):c.3006+10C>T
|
rs753914878
|
0.00004
|
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg)
|
rs1207482417
|
0.00004
|
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln)
|
rs772401747
|
0.00004
|
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=)
|
rs185771112
|
0.00004
|
NM_001113378.2(FANCI):c.3720+10T>C
|
rs756636181
|
0.00004
|
NM_001113378.2(FANCI):c.3721-15G>A
|
rs552581027
|
0.00004
|
NM_001113378.2(FANCI):c.3734G>T (p.Arg1245Leu)
|
rs771758909
|
0.00004
|
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr)
|
rs776134519
|
0.00004
|
NM_001113378.2(FANCI):c.445+14G>A
|
rs762378388
|
0.00004
|
NM_001113378.2(FANCI):c.550G>C (p.Val184Leu)
|
rs571745030
|
0.00004
|
NM_001113378.2(FANCI):c.772A>G (p.Thr258Ala)
|
rs773039171
|
0.00004
|
NM_001113378.2(FANCI):c.883-16_883-15del
|
rs763087620
|
0.00004
|
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile)
|
rs199713555
|
0.00004
|
NM_001113378.2(FANCI):c.993G>A (p.Lys331=)
|
rs146916445
|
0.00004
|
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met)
|
rs1060501897
|
0.00003
|
NM_001113378.2(FANCI):c.1113C>T (p.Ser371=)
|
rs780568718
|
0.00003
|
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)
|
rs201002833
|
0.00003
|
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly)
|
rs200007225
|
0.00003
|
NM_001113378.2(FANCI):c.1699-11C>T
|
rs753750358
|
0.00003
|
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp)
|
rs779310267
|
0.00003
|
NM_001113378.2(FANCI):c.1891-2A>G
|
rs776329920
|
0.00003
|
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)
|
rs143105092
|
0.00003
|
NM_001113378.2(FANCI):c.1993-6C>T
|
rs1419780732
|
0.00003
|
NM_001113378.2(FANCI):c.2170-6T>C
|
rs764818761
|
0.00003
|
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly)
|
rs780147810
|
0.00003
|
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile)
|
rs781175970
|
0.00003
|
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)
|
rs768234660
|
0.00003
|
NM_001113378.2(FANCI):c.2504G>A (p.Ser835Asn)
|
rs778626493
|
0.00003
|
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly)
|
rs545673916
|
0.00003
|
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met)
|
rs771106622
|
0.00003
|
NM_001113378.2(FANCI):c.2803+15A>T
|
rs372343510
|
0.00003
|
NM_001113378.2(FANCI):c.284T>A (p.Leu95Gln)
|
rs201553891
|
0.00003
|
NM_001113378.2(FANCI):c.2907A>C (p.Leu969Phe)
|
rs568094959
|
0.00003
|
NM_001113378.2(FANCI):c.2936G>T (p.Ser979Ile)
|
rs769453869
|
0.00003
|
NM_001113378.2(FANCI):c.3053G>A (p.Ser1018Asn)
|
rs773696866
|
0.00003
|
NM_001113378.2(FANCI):c.3093G>C (p.Leu1031Phe)
|
rs546822799
|
0.00003
|
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys)
|
rs138702591
|
0.00003
|
NM_001113378.2(FANCI):c.3186+3A>G
|
rs371788349
|
0.00003
|
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr)
|
rs375746069
|
0.00003
|
NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly)
|
rs772968604
|
0.00003
|
NM_001113378.2(FANCI):c.3271C>G (p.Gln1091Glu)
|
rs578060150
|
0.00003
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe)
|
rs202066338
|
0.00003
|
NM_001113378.2(FANCI):c.3817-12A>G
|
rs545402956
|
0.00003
|
NM_001113378.2(FANCI):c.3835A>G (p.Met1279Val)
|
rs778056909
|
0.00003
|
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu)
|
rs374908061
|
0.00003
|
NM_001113378.2(FANCI):c.3886A>G (p.Met1296Val)
|
rs765052471
|
0.00003
|
NM_001113378.2(FANCI):c.445+19T>C
|
rs1340366575
|
0.00003
|
NM_001113378.2(FANCI):c.446-9C>T
|
rs761356536
|
0.00003
|
NM_001113378.2(FANCI):c.488C>A (p.Thr163Asn)
|
rs574154974
|
0.00003
|
NM_001113378.2(FANCI):c.579T>C (p.Phe193=)
|
rs746361181
|
0.00003
|
NM_001113378.2(FANCI):c.595T>C (p.Leu199=)
|
rs373954813
|
0.00003
|
NM_001113378.2(FANCI):c.601A>G (p.Met201Val)
|
rs774564150
|
0.00003
|
NM_001113378.2(FANCI):c.705C>T (p.Ala235=)
|
rs542117175
|
0.00003
|
NM_001113378.2(FANCI):c.883-9C>T
|
rs563201817
|
0.00003
|
NM_001113378.2(FANCI):c.1092C>T (p.Ile364=)
|
rs147055918
|
0.00002
|
NM_001113378.2(FANCI):c.1112+8G>C
|
rs761741904
|
0.00002
|
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=)
|
rs201871288
|
0.00002
|
NM_001113378.2(FANCI):c.1513-16A>C
|
rs768296894
|
0.00002
|
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser)
|
rs774909787
|
0.00002
|
NM_001113378.2(FANCI):c.1699-20T>C
|
rs770951736
|
0.00002
|
NM_001113378.2(FANCI):c.1716C>T (p.His572=)
|
rs750999079
|
0.00002
|
NM_001113378.2(FANCI):c.1741G>A (p.Glu581Lys)
|
rs768875486
|
0.00002
|
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly)
|
rs1262508273
|
0.00002
|
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)
|
rs369268726
|
0.00002
|
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile)
|
rs200007022
|
0.00002
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_001113378.2(FANCI):c.1822-7C>G
|
rs758739224
|
0.00002
|
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys)
|
rs749295501
|
0.00002
|
NM_001113378.2(FANCI):c.1890+10A>G
|
rs201954421
|
0.00002
|
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=)
|
rs750462548
|
0.00002
|
NM_001113378.2(FANCI):c.197G>A (p.Arg66His)
|
rs779515039
|
0.00002
|
NM_001113378.2(FANCI):c.2026G>T (p.Ala676Ser)
|
rs756986642
|
0.00002
|
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser)
|
rs774148630
|
0.00002
|
NM_001113378.2(FANCI):c.2170-3T>C
|
rs757908899
|
0.00002
|
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His)
|
rs752028405
|
0.00002
|
NM_001113378.2(FANCI):c.2336A>G (p.Lys779Arg)
|
rs1323965441
|
0.00002
|
NM_001113378.2(FANCI):c.2454C>T (p.Phe818=)
|
rs747796401
|
0.00002
|
NM_001113378.2(FANCI):c.2636+20T>C
|
rs767625078
|
0.00002
|
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys)
|
rs200907824
|
0.00002
|
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
|
rs562503186
|
0.00002
|
NM_001113378.2(FANCI):c.3016A>G (p.Met1006Val)
|
rs781108611
|
0.00002
|
NM_001113378.2(FANCI):c.3124C>G (p.Pro1042Ala)
|
rs752438879
|
0.00002
|
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
|
rs746204528
|
0.00002
|
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val)
|
rs142756279
|
0.00002
|
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met)
|
rs922792253
|
0.00002
|
NM_001113378.2(FANCI):c.3549G>A (p.Val1183=)
|
rs774699547
|
0.00002
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
NM_001113378.2(FANCI):c.3816+6C>T
|
rs989969696
|
0.00002
|
NM_001113378.2(FANCI):c.503+11T>C
|
rs749071182
|
0.00002
|
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys)
|
rs751222800
|
0.00002
|
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe)
|
rs1435589915
|
0.00002
|
NM_001113378.2(FANCI):c.755+9T>C
|
rs369467223
|
0.00002
|
NM_001113378.2(FANCI):c.875A>G (p.His292Arg)
|
rs764641724
|
0.00002
|
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)
|
rs769485443
|
0.00002
|
NM_001113378.2(FANCI):c.975+7T>C
|
rs766659063
|
0.00002
|
NM_001113378.2(FANCI):c.976-5T>C
|
rs775680372
|
0.00002
|
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
|
rs72762644
|
0.00001
|
NM_001113378.2(FANCI):c.1026A>G (p.Gln342=)
|
rs752386484
|
0.00001
|
NM_001113378.2(FANCI):c.1038C>T (p.Gly346=)
|
rs1465922906
|
0.00001
|
NM_001113378.2(FANCI):c.1039T>C (p.Ser347Pro)
|
rs1289791231
|
0.00001
|
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser)
|
rs565007212
|
0.00001
|
NM_001113378.2(FANCI):c.1138C>G (p.Gln380Glu)
|
rs748470270
|
0.00001
|
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala)
|
rs1012254525
|
0.00001
|
NM_001113378.2(FANCI):c.1185A>C (p.Pro395=)
|
rs371838837
|
0.00001
|
NM_001113378.2(FANCI):c.1212T>C (p.Ile404=)
|
rs749893514
|
0.00001
|
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile)
|
rs1390853875
|
0.00001
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
NM_001113378.2(FANCI):c.1386G>A (p.Leu462=)
|
rs1427057962
|
0.00001
|
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)
|
rs200186938
|
0.00001
|
NM_001113378.2(FANCI):c.1406A>G (p.Tyr469Cys)
|
rs756206080
|
0.00001
|
NM_001113378.2(FANCI):c.1411C>G (p.Pro471Ala)
|
rs1287849752
|
0.00001
|
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile)
|
rs746777753
|
0.00001
|
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly)
|
rs775192850
|
0.00001
|
NM_001113378.2(FANCI):c.1477C>T (p.Leu493Phe)
|
rs2053603881
|
0.00001
|
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=)
|
rs775006497
|
0.00001
|
NM_001113378.2(FANCI):c.1510C>A (p.Gln504Lys)
|
rs554471987
|
0.00001
|
NM_001113378.2(FANCI):c.1513-13G>C
|
rs1451472127
|
0.00001
|
NM_001113378.2(FANCI):c.1514C>T (p.Pro505Leu)
|
rs773105092
|
0.00001
|
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe)
|
rs762294213
|
0.00001
|
NM_001113378.2(FANCI):c.1557T>C (p.Leu519=)
|
rs138767485
|
0.00001
|
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)
|
rs1347292940
|
0.00001
|
NM_001113378.2(FANCI):c.1680G>A (p.Gln560=)
|
rs1181466139
|
0.00001
|
NM_001113378.2(FANCI):c.1698+11T>C
|
rs1349464743
|
0.00001
|
NM_001113378.2(FANCI):c.1698+6G>T
|
rs762886638
|
0.00001
|
NM_001113378.2(FANCI):c.16T>G (p.Leu6Val)
|
rs748018574
|
0.00001
|
NM_001113378.2(FANCI):c.1787G>A (p.Ser596Asn)
|
rs754190768
|
0.00001
|
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln)
|
rs201641791
|
0.00001
|
NM_001113378.2(FANCI):c.1821+5G>A
|
rs769718753
|
0.00001
|
NM_001113378.2(FANCI):c.1821+9G>A
|
rs1596292257
|
0.00001
|
NM_001113378.2(FANCI):c.1824G>A (p.Gly608=)
|
rs777877618
|
0.00001
|
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)
|
rs551399966
|
0.00001
|
NM_001113378.2(FANCI):c.18A>G (p.Leu6=)
|
rs1344119716
|
0.00001
|
NM_001113378.2(FANCI):c.1956G>C (p.Leu652=)
|
rs770437879
|
0.00001
|
NM_001113378.2(FANCI):c.1976C>T (p.Ser659Phe)
|
rs776139524
|
0.00001
|
NM_001113378.2(FANCI):c.1993-7C>G
|
rs773420007
|
0.00001
|
NM_001113378.2(FANCI):c.1A>G (p.Met1Val)
|
rs781249928
|
0.00001
|
NM_001113378.2(FANCI):c.2017C>T (p.His673Tyr)
|
rs763866498
|
0.00001
|
NM_001113378.2(FANCI):c.2033A>G (p.Tyr678Cys)
|
rs916935359
|
0.00001
|
NM_001113378.2(FANCI):c.2051C>T (p.Pro684Leu)
|
rs779276973
|
0.00001
|
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg)
|
rs772393046
|
0.00001
|
NM_001113378.2(FANCI):c.2063G>A (p.Gly688Glu)
|
rs778157971
|
0.00001
|
NM_001113378.2(FANCI):c.2098G>A (p.Glu700Lys)
|
rs199615501
|
0.00001
|
NM_001113378.2(FANCI):c.2114T>C (p.Ile705Thr)
|
rs760554629
|
0.00001
|
NM_001113378.2(FANCI):c.2131A>T (p.Asn711Tyr)
|
rs766073258
|
0.00001
|
NM_001113378.2(FANCI):c.2169+12G>A
|
rs886051512
|
0.00001
|
NM_001113378.2(FANCI):c.2169+8C>G
|
rs534051118
|
0.00001
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
|
rs757610698
|
0.00001
|
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr)
|
rs911033971
|
0.00001
|
NM_001113378.2(FANCI):c.2212A>G (p.Lys738Glu)
|
rs1423332049
|
0.00001
|
NM_001113378.2(FANCI):c.2224T>C (p.Cys742Arg)
|
rs770611634
|
0.00001
|
NM_001113378.2(FANCI):c.228G>A (p.Val76=)
|
rs1296744474
|
0.00001
|
NM_001113378.2(FANCI):c.2292-6T>C
|
rs772352819
|
0.00001
|
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu)
|
rs754443451
|
0.00001
|
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile)
|
rs560692029
|
0.00001
|
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu)
|
rs1421332670
|
0.00001
|
NM_001113378.2(FANCI):c.2393A>G (p.Asn798Ser)
|
rs548409550
|
0.00001
|
NM_001113378.2(FANCI):c.2421G>A (p.Met807Ile)
|
rs1282555629
|
0.00001
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
NM_001113378.2(FANCI):c.243G>T (p.Leu81Phe)
|
rs765418977
|
0.00001
|
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp)
|
rs879531765
|
0.00001
|
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)
|
rs748000458
|
0.00001
|
NM_001113378.2(FANCI):c.2520C>G (p.Arg840=)
|
rs1210098933
|
0.00001
|
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His)
|
rs777269384
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp)
|
rs1361710673
|
0.00001
|
NM_001113378.2(FANCI):c.2577G>C (p.Val859=)
|
rs562877308
|
0.00001
|
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
|
rs199758631
|
0.00001
|
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln)
|
rs1384613419
|
0.00001
|
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu)
|
rs1368909419
|
0.00001
|
NM_001113378.2(FANCI):c.2617A>G (p.Asn873Asp)
|
rs764167093
|
0.00001
|
NM_001113378.2(FANCI):c.2623T>C (p.Cys875Arg)
|
rs1309949902
|
0.00001
|
NM_001113378.2(FANCI):c.2636+3A>G
|
rs2054202681
|
0.00001
|
NM_001113378.2(FANCI):c.2636+4A>G
|
rs1211300732
|
0.00001
|
NM_001113378.2(FANCI):c.2636G>A (p.Arg879Gln)
|
rs1488657979
|
0.00001
|
NM_001113378.2(FANCI):c.2649G>C (p.Trp883Cys)
|
rs776067081
|
0.00001
|
NM_001113378.2(FANCI):c.2673A>T (p.Ser891=)
|
rs1567170286
|
0.00001
|
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu)
|
rs762647324
|
0.00001
|
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala)
|
rs751233975
|
0.00001
|
NM_001113378.2(FANCI):c.2721G>A (p.Leu907=)
|
rs369902896
|
0.00001
|
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val)
|
rs748546731
|
0.00001
|
NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter)
|
rs1303324683
|
0.00001
|
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu)
|
rs773438545
|
0.00001
|
NM_001113378.2(FANCI):c.2813A>G (p.Asp938Gly)
|
rs1060501898
|
0.00001
|
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp)
|
rs1184165155
|
0.00001
|
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile)
|
rs767462150
|
0.00001
|
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln)
|
rs151267266
|
0.00001
|
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln)
|
rs776851666
|
0.00001
|
NM_001113378.2(FANCI):c.288+13A>T
|
rs748684931
|
0.00001
|
NM_001113378.2(FANCI):c.288+15_288+16insGT
|
rs770691019
|
0.00001
|
NM_001113378.2(FANCI):c.290C>T (p.Ala97Val)
|
rs1555442676
|
0.00001
|
NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg)
|
rs780663944
|
0.00001
|
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr)
|
rs886051507
|
0.00001
|
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
|
rs1194951081
|
0.00001
|
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg)
|
rs150387641
|
0.00001
|
NM_001113378.2(FANCI):c.3058+10C>G
|
rs1375877085
|
0.00001
|
NM_001113378.2(FANCI):c.3058+1G>A
|
rs149464307
|
0.00001
|
NM_001113378.2(FANCI):c.3059-17T>A
|
rs778641563
|
0.00001
|
NM_001113378.2(FANCI):c.3069G>A (p.Leu1023=)
|
rs777093571
|
0.00001
|
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val)
|
rs1343059856
|
0.00001
|
NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys)
|
rs1429500240
|
0.00001
|
NM_001113378.2(FANCI):c.3186+7_3186+8insG
|
rs762412096
|
0.00001
|
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg)
|
rs763822728
|
0.00001
|
NM_001113378.2(FANCI):c.3210C>T (p.Asn1070=)
|
rs1331419585
|
0.00001
|
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)
|
rs767103109
|
0.00001
|
NM_001113378.2(FANCI):c.3243C>G (p.Ala1081=)
|
rs1596324716
|
0.00001
|
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala)
|
rs886051513
|
0.00001
|
NM_001113378.2(FANCI):c.3252C>T (p.Val1084=)
|
rs1270769440
|
0.00001
|
NM_001113378.2(FANCI):c.3255+8T>C
|
rs200754997
|
0.00001
|
NM_001113378.2(FANCI):c.3255+9T>A
|
rs1596324771
|
0.00001
|
NM_001113378.2(FANCI):c.3256-9T>C
|
rs1464839356
|
0.00001
|
NM_001113378.2(FANCI):c.3273G>A (p.Gln1091=)
|
rs147496890
|
0.00001
|
NM_001113378.2(FANCI):c.329A>G (p.Asn110Ser)
|
rs368987143
|
0.00001
|
NM_001113378.2(FANCI):c.3327A>T (p.Gln1109His)
|
rs1388053700
|
0.00001
|
NM_001113378.2(FANCI):c.3350-11T>C
|
rs779052518
|
0.00001
|
NM_001113378.2(FANCI):c.3377C>G (p.Pro1126Arg)
|
rs78234788
|
0.00001
|
NM_001113378.2(FANCI):c.3379A>G (p.Asn1127Asp)
|
rs878854179
|
0.00001
|
NM_001113378.2(FANCI):c.33A>G (p.Glu11=)
|
rs878854180
|
0.00001
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
0.00001
|
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile)
|
rs772071601
|
0.00001
|
NM_001113378.2(FANCI):c.3435C>G (p.Phe1145Leu)
|
rs1344945720
|
0.00001
|
NM_001113378.2(FANCI):c.3439G>A (p.Glu1147Lys)
|
rs947003968
|
0.00001
|
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val)
|
rs368451326
|
0.00001
|
NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val)
|
rs757606290
|
0.00001
|
NM_001113378.2(FANCI):c.3505A>T (p.Met1169Leu)
|
rs757606290
|
0.00001
|
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile)
|
rs552222011
|
0.00001
|
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg)
|
rs757106031
|
0.00001
|
NM_001113378.2(FANCI):c.3538-10T>C
|
rs1415270918
|
0.00001
|
NM_001113378.2(FANCI):c.3561C>T (p.Ser1187=)
|
rs748619003
|
0.00001
|
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg)
|
rs772739034
|
0.00001
|
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
|
rs149763090
|
0.00001
|
NM_001113378.2(FANCI):c.3592-16C>T
|
rs754610218
|
0.00001
|
NM_001113378.2(FANCI):c.3592-9G>A
|
rs200021557
|
0.00001
|
NM_001113378.2(FANCI):c.3594G>A (p.Val1198=)
|
rs986193169
|
0.00001
|
NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala)
|
rs759758760
|
0.00001
|
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs)
|
rs756691827
|
0.00001
|
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro)
|
rs373184027
|
0.00001
|
NM_001113378.2(FANCI):c.3652-14T>G
|
rs372032678
|
0.00001
|
NM_001113378.2(FANCI):c.3652-6C>G
|
rs752433847
|
0.00001
|
NM_001113378.2(FANCI):c.3652-9T>C
|
rs971308997
|
0.00001
|
NM_001113378.2(FANCI):c.3665G>A (p.Ser1222Asn)
|
rs746232111
|
0.00001
|
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr)
|
rs780218001
|
0.00001
|
NM_001113378.2(FANCI):c.3674A>G (p.Tyr1225Cys)
|
rs1351957141
|
0.00001
|
NM_001113378.2(FANCI):c.3675T>C (p.Tyr1225=)
|
rs768895822
|
0.00001
|
NM_001113378.2(FANCI):c.3678G>A (p.Thr1226=)
|
rs748187517
|
0.00001
|
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro)
|
rs751025656
|
0.00001
|
NM_001113378.2(FANCI):c.3721-1G>C
|
rs1173483373
|
0.00001
|
NM_001113378.2(FANCI):c.3721-7C>T
|
rs1434575390
|
0.00001
|
NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile)
|
rs1321885310
|
0.00001
|
NM_001113378.2(FANCI):c.3801T>G (p.Leu1267=)
|
rs993279086
|
0.00001
|
NM_001113378.2(FANCI):c.3809A>G (p.Lys1270Arg)
|
rs749287934
|
0.00001
|
NM_001113378.2(FANCI):c.3816+4A>G
|
rs575207637
|
0.00001
|
NM_001113378.2(FANCI):c.3834C>T (p.His1278=)
|
rs1450412741
|
0.00001
|
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys)
|
rs780404413
|
0.00001
|
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp)
|
rs749756525
|
0.00001
|
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)
|
rs561190476
|
0.00001
|
NM_001113378.2(FANCI):c.3924+16T>G
|
rs1260139637
|
0.00001
|
NM_001113378.2(FANCI):c.3924+3C>T
|
rs766430678
|
0.00001
|
NM_001113378.2(FANCI):c.3924G>C (p.Glu1308Asp)
|
rs760646851
|
0.00001
|
NM_001113378.2(FANCI):c.394A>G (p.Ile132Val)
|
rs749540937
|
0.00001
|
NM_001113378.2(FANCI):c.39A>T (p.Thr13=)
|
rs201981373
|
0.00001
|
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val)
|
rs768553208
|
0.00001
|
NM_001113378.2(FANCI):c.411G>A (p.Leu137=)
|
rs770909223
|
0.00001
|
NM_001113378.2(FANCI):c.416C>T (p.Thr139Met)
|
rs1161378135
|
0.00001
|
NM_001113378.2(FANCI):c.417G>A (p.Thr139=)
|
rs776382823
|
0.00001
|
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu)
|
rs1410323660
|
0.00001
|
NM_001113378.2(FANCI):c.445+13C>T
|
rs369924984
|
0.00001
|
NM_001113378.2(FANCI):c.446-19G>A
|
rs775410661
|
0.00001
|
NM_001113378.2(FANCI):c.475C>G (p.Gln159Glu)
|
rs765463274
|
0.00001
|
NM_001113378.2(FANCI):c.497C>G (p.Ser166Cys)
|
rs745789593
|
0.00001
|
NM_001113378.2(FANCI):c.504-3C>T
|
rs1457153041
|
0.00001
|
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)
|
rs771312042
|
0.00001
|
NM_001113378.2(FANCI):c.538A>T (p.Met180Leu)
|
rs1233794193
|
0.00001
|
NM_001113378.2(FANCI):c.546-6C>T
|
rs754929965
|
0.00001
|
NM_001113378.2(FANCI):c.558G>T (p.Leu186=)
|
rs746658213
|
0.00001
|
NM_001113378.2(FANCI):c.571G>A (p.Val191Met)
|
rs1296106146
|
0.00001
|
NM_001113378.2(FANCI):c.609C>T (p.Ser203=)
|
rs762005980
|
0.00001
|
NM_001113378.2(FANCI):c.614T>G (p.Met205Arg)
|
rs750520404
|
0.00001
|
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln)
|
rs752707646
|
0.00001
|
NM_001113378.2(FANCI):c.669+8T>C
|
rs942269232
|
0.00001
|
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val)
|
rs749779839
|
0.00001
|
NM_001113378.2(FANCI):c.735T>C (p.Asn245=)
|
rs1230412125
|
0.00001
|
NM_001113378.2(FANCI):c.755+11T>C
|
rs763895201
|
0.00001
|
NM_001113378.2(FANCI):c.794G>A (p.Arg265His)
|
rs375652309
|
0.00001
|
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val)
|
rs778263817
|
0.00001
|
NM_001113378.2(FANCI):c.837C>T (p.Ile279=)
|
rs2053064958
|
0.00001
|
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser)
|
rs575416245
|
0.00001
|
NM_001113378.2(FANCI):c.918T>G (p.Ser306Arg)
|
rs745623288
|
0.00001
|
NM_001113378.2(FANCI):c.924C>T (p.Phe308=)
|
rs1201490769
|
0.00001
|
NM_001113378.2(FANCI):c.925A>G (p.Ser309Gly)
|
rs1184166680
|
0.00001
|
NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser)
|
rs745341673
|
0.00001
|
NM_001113378.2(FANCI):c.955A>G (p.Ile319Val)
|
rs1451676691
|
0.00001
|
NM_001113378.2(FANCI):c.975+11A>T
|
rs759815521
|
0.00001
|
NM_001113378.2(FANCI):c.975+3A>G
|
rs773615217
|
0.00001
|
NM_001113378.2(FANCI):c.976-9A>G
|
rs1350162211
|
0.00001
|
NM_001113378.2(FANCI):c.999G>A (p.Ser333=)
|
rs367991076
|
0.00001
|
NC_000015.10:g.(?_89290203)_(89291724_?)del
|
|
|
NC_000015.9:g.(?_89790879)_(89825086_?)dup
|
|
|
NC_000015.9:g.(?_89801915)_(89802027_?)del
|
|
|
NC_000015.9:g.(?_89801915)_(89828469_?)del
|
|
|
NC_000015.9:g.(?_89811610)_(89817555_?)del
|
|
|
NC_000015.9:g.(?_89828307)_(89828469_?)del
|
|
|
NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile)
|
rs1222471181
|
|
NM_001113378.2(FANCI):c.1008G>A (p.Lys336=)
|
|
|
NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu)
|
rs1432524532
|
|
NM_001113378.2(FANCI):c.1011C>T (p.Ser337=)
|
|
|
NM_001113378.2(FANCI):c.1013T>C (p.Phe338Ser)
|
|
|
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del)
|
rs770583031
|
|
NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)
|
|
|
NM_001113378.2(FANCI):c.1044A>G (p.Lys348=)
|
rs2151452858
|
|
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
|
|
|
NM_001113378.2(FANCI):c.1053G>T (p.Gln351His)
|
|
|
NM_001113378.2(FANCI):c.1059A>C (p.Leu353=)
|
|
|
NM_001113378.2(FANCI):c.1064C>G (p.Pro355Arg)
|
|
|
NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys)
|
|
|
NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu)
|
|
|
NM_001113378.2(FANCI):c.1070G>T (p.Arg357Ile)
|
rs2151453139
|
|
NM_001113378.2(FANCI):c.1074T>C (p.Ser358=)
|
|
|
NM_001113378.2(FANCI):c.1074T>G (p.Ser358=)
|
|
|
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn)
|
rs1429851841
|
|
NM_001113378.2(FANCI):c.1077T>C (p.Tyr359=)
|
|
|
NM_001113378.2(FANCI):c.1082C>T (p.Ser361Leu)
|
rs2151453253
|
|
NM_001113378.2(FANCI):c.1101A>G (p.Val367=)
|
|
|
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
|
|
|
NM_001113378.2(FANCI):c.1107G>A (p.Lys369=)
|
|
|
NM_001113378.2(FANCI):c.1110T>C (p.Asn370=)
|
|
|
NM_001113378.2(FANCI):c.1112+13_1112+14insAGATATGAA
|
|
|
NM_001113378.2(FANCI):c.1112+14C>G
|
|
|
NM_001113378.2(FANCI):c.1112+16A>G
|
|
|
NM_001113378.2(FANCI):c.1112+7del
|
|
|
NM_001113378.2(FANCI):c.1113-13T>C
|
|
|
NM_001113378.2(FANCI):c.1113-1G>A
|
rs2151485792
|
|
NM_001113378.2(FANCI):c.1113-20T>C
|
|
|
NM_001113378.2(FANCI):c.1118A>G (p.His373Arg)
|
|
|
NM_001113378.2(FANCI):c.1119T>C (p.His373=)
|
|
|
NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg)
|
|
|
NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe)
|
rs1216132878
|
|
NM_001113378.2(FANCI):c.1134T>C (p.Val378=)
|
rs1201574474
|
|
NM_001113378.2(FANCI):c.1140G>A (p.Gln380=)
|
rs1056588286
|
|
NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser)
|
|
|
NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile)
|
|
|
NM_001113378.2(FANCI):c.1149A>G (p.Val383=)
|
|
|
NM_001113378.2(FANCI):c.114G>A (p.Val38=)
|
rs769209297
|
|
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
|
|
|
NM_001113378.2(FANCI):c.1158T>G (p.Gly386=)
|
rs2151486340
|
|
NM_001113378.2(FANCI):c.1161C>T (p.Phe387=)
|
rs2151486354
|
|
NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val)
|
|
|
NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr)
|
rs1174812931
|
|
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
|
|
|
NM_001113378.2(FANCI):c.1182G>A (p.Gly394=)
|
|
|
NM_001113378.2(FANCI):c.1185A>G (p.Pro395=)
|
|
|
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu)
|
rs2053427139
|
|
NM_001113378.2(FANCI):c.1194T>C (p.Val398=)
|
|
|
NM_001113378.2(FANCI):c.1198G>C (p.Asp400His)
|
|
|
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
|
|
|
NM_001113378.2(FANCI):c.1203A>T (p.Gly401=)
|
|
|
NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg)
|
|
|
NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser)
|
|
|
NM_001113378.2(FANCI):c.1218C>T (p.Thr406=)
|
|
|
NM_001113378.2(FANCI):c.1221C>G (p.Ser407Arg)
|
rs2151486786
|
|
NM_001113378.2(FANCI):c.1222C>A (p.Pro408Thr)
|
rs1281730489
|
|
NM_001113378.2(FANCI):c.1222C>T (p.Pro408Ser)
|
|
|
NM_001113378.2(FANCI):c.123A>G (p.Lys41=)
|
|
|
NM_001113378.2(FANCI):c.1251T>C (p.His417=)
|
rs2151487041
|
|
NM_001113378.2(FANCI):c.1254A>C (p.Ala418=)
|
|
|
NM_001113378.2(FANCI):c.1254A>G (p.Ala418=)
|
|
|
NM_001113378.2(FANCI):c.1254A>T (p.Ala418=)
|
rs772465377
|
|
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)
|
rs376956791
|
|
NM_001113378.2(FANCI):c.1266A>G (p.Gly422=)
|
|
|
NM_001113378.2(FANCI):c.126T>C (p.Val42=)
|
|
|
NM_001113378.2(FANCI):c.1272T>C (p.Asn424=)
|
|
|
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)
|
rs775228768
|
|
NM_001113378.2(FANCI):c.1275C>T (p.Ile425=)
|
|
|
NM_001113378.2(FANCI):c.1278G>C (p.Leu426=)
|
|
|
NM_001113378.2(FANCI):c.1278G>T (p.Leu426=)
|
rs1060504377
|
|
NM_001113378.2(FANCI):c.1293+11A>G
|
|
|
NM_001113378.2(FANCI):c.1293+1G>A
|
rs768310043
|
|
NM_001113378.2(FANCI):c.1293+2T>G
|
|
|
NM_001113378.2(FANCI):c.1293+7C>T
|
|
|
NM_001113378.2(FANCI):c.1293+8A>G
|
|
|
NM_001113378.2(FANCI):c.1293+9C>T
|
|
|
NM_001113378.2(FANCI):c.1294-11G>A
|
|
|
NM_001113378.2(FANCI):c.1294-11G>C
|
rs770915999
|
|
NM_001113378.2(FANCI):c.1294-16A>T
|
|
|
NM_001113378.2(FANCI):c.1294-17T>C
|
|
|
NM_001113378.2(FANCI):c.1294-20A>T
|
|
|
NM_001113378.2(FANCI):c.1294-8del
|
|
|
NM_001113378.2(FANCI):c.1294-9_1294-8insA
|
rs1555445524
|
|
NM_001113378.2(FANCI):c.1294A>G (p.Ile432Val)
|
rs1387369541
|
|
NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn)
|
rs1222824065
|
|
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs)
|
|
|
NM_001113378.2(FANCI):c.1314A>T (p.Gln438His)
|
|
|
NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met)
|
|
|
NM_001113378.2(FANCI):c.1329G>A (p.Gln443=)
|
|
|
NM_001113378.2(FANCI):c.1330G>A (p.Val444Ile)
|
rs1224560872
|
|
NM_001113378.2(FANCI):c.1333C>T (p.Leu445Phe)
|
rs2053498951
|
|
NM_001113378.2(FANCI):c.1345G>A (p.Val449Ile)
|
|
|
NM_001113378.2(FANCI):c.1349C>A (p.Thr450Asn)
|
rs1294189131
|
|
NM_001113378.2(FANCI):c.1349C>G (p.Thr450Ser)
|
|
|
NM_001113378.2(FANCI):c.1350C>G (p.Thr450=)
|
|
|
NM_001113378.2(FANCI):c.1352G>C (p.Arg451Thr)
|
|
|
NM_001113378.2(FANCI):c.1354G>A (p.Ala452Thr)
|
|
|
NM_001113378.2(FANCI):c.1361C>G (p.Ser454Cys)
|
|
|
NM_001113378.2(FANCI):c.1363C>A (p.Pro455Thr)
|
rs2151511659
|
|
NM_001113378.2(FANCI):c.1365C>T (p.Pro455=)
|
rs2053499669
|
|
NM_001113378.2(FANCI):c.1366A>C (p.Ile456Leu)
|
rs757536456
|
|
NM_001113378.2(FANCI):c.1373A>G (p.His458Arg)
|
rs2053499876
|
|
NM_001113378.2(FANCI):c.1374T>A (p.His458Gln)
|
rs1183239990
|
|
NM_001113378.2(FANCI):c.1381+12T>C
|
|
|
NM_001113378.2(FANCI):c.1381+12T>G
|
|
|
NM_001113378.2(FANCI):c.1381+1G>T
|
|
|
NM_001113378.2(FANCI):c.1381+21_1381+24del
|
|
|
NM_001113378.2(FANCI):c.1381+8A>C
|
|
|
NM_001113378.2(FANCI):c.1381+8A>G
|
|
|
NM_001113378.2(FANCI):c.1382-11C>G
|
|
|
NM_001113378.2(FANCI):c.1382-11_1382-10del
|
rs753044978
|
|
NM_001113378.2(FANCI):c.1382-18A>G
|
|
|
NM_001113378.2(FANCI):c.1382-18A>T
|
rs763617822
|
|
NM_001113378.2(FANCI):c.1382-19T>C
|
|
|
NM_001113378.2(FANCI):c.1384C>T (p.Leu462=)
|
rs1369888767
|
|
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter)
|
rs2151549770
|
|
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_001113378.2(FANCI):c.1410A>T (p.Ala470=)
|
|
|
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile)
|
rs2053602523
|
|
NM_001113378.2(FANCI):c.1425A>G (p.Gln475=)
|
|
|
NM_001113378.2(FANCI):c.1428T>C (p.Ser476=)
|
|
|
NM_001113378.2(FANCI):c.1436C>A (p.Ser479Tyr)
|
rs2053602935
|
|
NM_001113378.2(FANCI):c.1438A>G (p.Lys480Glu)
|
|
|
NM_001113378.2(FANCI):c.1452T>C (p.Ala484=)
|
|
|
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro)
|
rs2053603506
|
|
NM_001113378.2(FANCI):c.1467C>A (p.Ser489=)
|
rs267604369
|
|
NM_001113378.2(FANCI):c.1471C>T (p.Leu491=)
|
|
|
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro)
|
rs2053603695
|
|
NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg)
|
rs1214081735
|
|
NM_001113378.2(FANCI):c.1488A>G (p.Val496=)
|
|
|
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys)
|
rs1049036307
|
|
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His)
|
rs145349375
|
|
NM_001113378.2(FANCI):c.1494G>A (p.Arg498=)
|
|
|
NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser)
|
rs767830108
|
|
NM_001113378.2(FANCI):c.1506A>C (p.Ala502=)
|
|
|
NM_001113378.2(FANCI):c.150C>T (p.Ile50=)
|
rs1238068725
|
|
NM_001113378.2(FANCI):c.1512+12G>A
|
|
|
NM_001113378.2(FANCI):c.1512+12G>C
|
|
|
NM_001113378.2(FANCI):c.1512+16C>G
|
|
|
NM_001113378.2(FANCI):c.1512+1G>A
|
rs2151551135
|
|
NM_001113378.2(FANCI):c.1512+20A>C
|
|
|
NM_001113378.2(FANCI):c.1512+5G>C
|
rs2053605169
|
|
NM_001113378.2(FANCI):c.1512G>A (p.Gln504=)
|
rs377762481
|
|
NM_001113378.2(FANCI):c.1513-17C>T
|
|
|
NM_001113378.2(FANCI):c.1513-9C>A
|
|
|
NM_001113378.2(FANCI):c.1513-9C>G
|
|
|
NM_001113378.2(FANCI):c.1514C>A (p.Pro505His)
|
rs773105092
|
|
NM_001113378.2(FANCI):c.1515C>A (p.Pro505=)
|
|
|
NM_001113378.2(FANCI):c.1517T>G (p.Leu506Arg)
|
rs2151558457
|
|
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile)
|
rs1011876937
|
|
NM_001113378.2(FANCI):c.1531A>C (p.Met511Leu)
|
rs1596285157
|
|
NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu)
|
|
|
NM_001113378.2(FANCI):c.1541G>A (p.Arg514Lys)
|
|
|
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly)
|
rs2053624733
|
|
NM_001113378.2(FANCI):c.1550T>G (p.Leu517Trp)
|
|
|
NM_001113378.2(FANCI):c.1556T>C (p.Leu519Pro)
|
rs998713167
|
|
NM_001113378.2(FANCI):c.1560C>T (p.Val520=)
|
|
|
NM_001113378.2(FANCI):c.1564C>A (p.Arg522=)
|
rs371568506
|
|
NM_001113378.2(FANCI):c.157+14A>G
|
|
|
NM_001113378.2(FANCI):c.157+16G>C
|
|
|
NM_001113378.2(FANCI):c.157+19A>T
|
|
|
NM_001113378.2(FANCI):c.157+1G>A
|
|
|
NM_001113378.2(FANCI):c.157+2TAA[2]
|
|
|
NM_001113378.2(FANCI):c.158-15G>C
|
|
|
NM_001113378.2(FANCI):c.158-16T>C
|
rs749777770
|
|
NM_001113378.2(FANCI):c.158-18C>G
|
|
|
NM_001113378.2(FANCI):c.158-18C>T
|
|
|
NM_001113378.2(FANCI):c.158-19C>A
|
rs762350003
|
|
NM_001113378.2(FANCI):c.158-19C>T
|
|
|
NM_001113378.2(FANCI):c.158-20C>T
|
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
NM_001113378.2(FANCI):c.158-5A>G
|
|
|
NM_001113378.2(FANCI):c.158-9A>T
|
|
|
NM_001113378.2(FANCI):c.1583+10A>G
|
|
|
NM_001113378.2(FANCI):c.1583+12C>T
|
|
|
NM_001113378.2(FANCI):c.1583+15T>C
|
|
|
NM_001113378.2(FANCI):c.1583+16T>G
|
|
|
NM_001113378.2(FANCI):c.1583+19T>G
|
|
|
NM_001113378.2(FANCI):c.1583+20A>G
|
|
|
NM_001113378.2(FANCI):c.1583+3A>G
|
rs2151559047
|
|
NM_001113378.2(FANCI):c.1583+9C>T
|
|
|
NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr)
|
rs2151559017
|
|
NM_001113378.2(FANCI):c.1584-13A>G
|
|
|
NM_001113378.2(FANCI):c.1584-14T>G
|
rs2151579826
|
|
NM_001113378.2(FANCI):c.1584-15C>T
|
|
|
NM_001113378.2(FANCI):c.1584-1G>C
|
|
|
NM_001113378.2(FANCI):c.1584-20C>T
|
|
|
NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)
|
|
|
NM_001113378.2(FANCI):c.1626G>C (p.Leu542=)
|
|
|
NM_001113378.2(FANCI):c.1637A>G (p.Asn546Ser)
|
|
|
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu)
|
rs2053681482
|
|
NM_001113378.2(FANCI):c.163C>T (p.Pro55Ser)
|
|
|
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
|
|
|
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr)
|
rs2053681603
|
|
NM_001113378.2(FANCI):c.1649T>C (p.Leu550Ser)
|
rs2151580534
|
|
NM_001113378.2(FANCI):c.1654A>C (p.Ser552Arg)
|
rs1060501899
|
|
NM_001113378.2(FANCI):c.1655G>A (p.Ser552Asn)
|
rs1470686039
|
|
NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151580463
|
|
NM_001113378.2(FANCI):c.1656C>A (p.Ser552Arg)
|
|
|
NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg)
|
rs1060501901
|
|
NM_001113378.2(FANCI):c.1662A>G (p.Ser554=)
|
rs1596287918
|
|
NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr)
|
|
|
NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys)
|
|
|
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs)
|
rs2053682638
|
|
NM_001113378.2(FANCI):c.1675A>C (p.Ser559Arg)
|
|
|
NM_001113378.2(FANCI):c.1675A>G (p.Ser559Gly)
|
|
|
NM_001113378.2(FANCI):c.1676G>T (p.Ser559Ile)
|
rs1555446426
|
|
NM_001113378.2(FANCI):c.1689T>C (p.Ser563=)
|
|
|
NM_001113378.2(FANCI):c.1698+10A>G
|
|
|
NM_001113378.2(FANCI):c.1698+11_1698+14del
|
rs763550734
|
|
NM_001113378.2(FANCI):c.1698+1G>A
|
|
|
NM_001113378.2(FANCI):c.1698+4A>G
|
rs1233338671
|
|
NM_001113378.2(FANCI):c.1699-13G>A
|
|
|
NM_001113378.2(FANCI):c.1699-15del
|
|
|
NM_001113378.2(FANCI):c.1699-16C>T
|
|
|
NM_001113378.2(FANCI):c.1699-17G>A
|
|
|
NM_001113378.2(FANCI):c.1699-17del
|
rs746745862
|
|
NM_001113378.2(FANCI):c.1699-7del
|
|
|
NM_001113378.2(FANCI):c.1699-8C>T
|
|
|
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1708G>A (p.Asp570Asn)
|
|
|
NM_001113378.2(FANCI):c.1708G>C (p.Asp570His)
|
rs2053765523
|
|
NM_001113378.2(FANCI):c.1713T>C (p.Val571=)
|
|
|
NM_001113378.2(FANCI):c.1752C>T (p.Cys584=)
|
|
|
NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg)
|
|
|
NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met)
|
|
|
NM_001113378.2(FANCI):c.1761C>T (p.Ile587=)
|
|
|
NM_001113378.2(FANCI):c.1767T>C (p.Asp589=)
|
|
|
NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)
|
|
|
NM_001113378.2(FANCI):c.1777A>C (p.Arg593=)
|
|
|
NM_001113378.2(FANCI):c.1779A>G (p.Arg593=)
|
rs2151610817
|
|
NM_001113378.2(FANCI):c.1782C>T (p.Cys594=)
|
|
|
NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)
|
|
|
NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser)
|
|
|
NM_001113378.2(FANCI):c.1797T>G (p.Ala599=)
|
|
|
NM_001113378.2(FANCI):c.180T>C (p.Ala60=)
|
rs2151252789
|
|
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
|
|
|
NM_001113378.2(FANCI):c.1821+13A>G
|
rs2151611385
|
|
NM_001113378.2(FANCI):c.1821+15T>C
|
|
|
NM_001113378.2(FANCI):c.1821+7C>G
|
|
|
NM_001113378.2(FANCI):c.1821+8C>T
|
rs1406084847
|
|
NM_001113378.2(FANCI):c.1822-12G>C
|
rs1348604439
|
|
NM_001113378.2(FANCI):c.1822-15T>C
|
|
|
NM_001113378.2(FANCI):c.1822-16C>A
|
|
|
NM_001113378.2(FANCI):c.1822-16C>T
|
|
|
NM_001113378.2(FANCI):c.1822-3T>C
|
rs978852872
|
|
NM_001113378.2(FANCI):c.1822-6T>C
|
|
|
NM_001113378.2(FANCI):c.1822-7del
|
rs1457763718
|
|
NM_001113378.2(FANCI):c.1822-8C>G
|
|
|
NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn)
|
|
|
NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu)
|
rs780853984
|
|
NM_001113378.2(FANCI):c.1833T>C (p.Asp611=)
|
rs2151689444
|
|
NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe)
|
rs2151689487
|
|
NM_001113378.2(FANCI):c.183A>G (p.Gly61=)
|
|
|
NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln)
|
|
|
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
|
|
|
NM_001113378.2(FANCI):c.1854G>T (p.Gln618His)
|
|
|
NM_001113378.2(FANCI):c.1860T>C (p.Ala620=)
|
|
|
NM_001113378.2(FANCI):c.1863T>A (p.Asn621Lys)
|
|
|
NM_001113378.2(FANCI):c.1867G>A (p.Val623Ile)
|
rs1174201813
|
|
NM_001113378.2(FANCI):c.1870A>G (p.Met624Val)
|
rs772744597
|
|
NM_001113378.2(FANCI):c.1871T>C (p.Met624Thr)
|
rs758191165
|
|
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs)
|
|
|
NM_001113378.2(FANCI):c.1885T>C (p.Ser629Pro)
|
rs753059359
|
|
NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu)
|
|
|
NM_001113378.2(FANCI):c.1890+12T>C
|
|
|
NM_001113378.2(FANCI):c.1890+19G>T
|
|
|
NM_001113378.2(FANCI):c.1890+20A>C
|
|
|
NM_001113378.2(FANCI):c.1890+8A>G
|
|
|
NM_001113378.2(FANCI):c.1890+9C>T
|
|
|
NM_001113378.2(FANCI):c.1891-10C>A
|
|
|
NM_001113378.2(FANCI):c.1891-10C>T
|
|
|
NM_001113378.2(FANCI):c.1891-11A>G
|
|
|
NM_001113378.2(FANCI):c.1891-13T>C
|
|
|
NM_001113378.2(FANCI):c.1891-14C>G
|
|
|
NM_001113378.2(FANCI):c.1891-4A>G
|
|
|
NM_001113378.2(FANCI):c.1891-6A>G
|
rs878854175
|
|
NM_001113378.2(FANCI):c.1891-8A>G
|
|
|
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
|
|
|
NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu)
|
|
|
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
|
|
|
NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln)
|
rs751777082
|
|
NM_001113378.2(FANCI):c.1908G>A (p.Glu636=)
|
|
|
NM_001113378.2(FANCI):c.1908_1909delinsAG (p.Pro637Ala)
|
|
|
NM_001113378.2(FANCI):c.1909C>T (p.Pro637Ser)
|
|
|
NM_001113378.2(FANCI):c.191_199del (p.Arg64_Arg66del)
|
rs2151252928
|
|
NM_001113378.2(FANCI):c.1925T>C (p.Leu642Pro)
|
rs2151709613
|
|
NM_001113378.2(FANCI):c.1931C>T (p.Pro644Leu)
|
|
|
NM_001113378.2(FANCI):c.1944A>G (p.Glu648=)
|
|
|
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val)
|
rs746651145
|
|
NM_001113378.2(FANCI):c.1954C>T (p.Leu652=)
|
rs1433980751
|
|
NM_001113378.2(FANCI):c.1955T>G (p.Leu652Arg)
|
rs2151709881
|
|
NM_001113378.2(FANCI):c.1962A>C (p.Gln654His)
|
|
|
NM_001113378.2(FANCI):c.1962A>G (p.Gln654=)
|
rs2151709946
|
|
NM_001113378.2(FANCI):c.1968T>C (p.Asp656=)
|
|
|
NM_001113378.2(FANCI):c.1972A>C (p.Ile658Leu)
|
rs745308624
|
|
NM_001113378.2(FANCI):c.1978C>T (p.Leu660=)
|
|
|
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
|
|
|
NM_001113378.2(FANCI):c.1980A>G (p.Leu660=)
|
|
|
NM_001113378.2(FANCI):c.1983A>G (p.Gln661=)
|
|
|
NM_001113378.2(FANCI):c.1986A>G (p.Glu662=)
|
rs769047323
|
|
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
|
|
|
NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser)
|
|
|
NM_001113378.2(FANCI):c.1989A>C (p.Pro663=)
|
|
|
NM_001113378.2(FANCI):c.1989A>G (p.Pro663=)
|
|
|
NM_001113378.2(FANCI):c.198T>C (p.Arg66=)
|
|
|
NM_001113378.2(FANCI):c.1992+12A>G
|
|
|
NM_001113378.2(FANCI):c.1992+15C>T
|
rs931290756
|
|
NM_001113378.2(FANCI):c.1992+3G>C
|
|
|
NM_001113378.2(FANCI):c.1993-10del
|
|
|
NM_001113378.2(FANCI):c.1993-15T>C
|
|
|
NM_001113378.2(FANCI):c.1993-17C>G
|
|
|
NM_001113378.2(FANCI):c.1993-19_1993-15del
|
rs2151723581
|
|
NM_001113378.2(FANCI):c.1993-7C>T
|
|
|
NM_001113378.2(FANCI):c.1998T>C (p.Tyr666=)
|
|
|
NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu)
|
rs748834576
|
|
NM_001113378.2(FANCI):c.2004G>A (p.Leu668=)
|
|
|
NM_001113378.2(FANCI):c.2004G>T (p.Leu668=)
|
|
|
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
|
|
|
NM_001113378.2(FANCI):c.2018A>G (p.His673Arg)
|
rs2151724076
|
|
NM_001113378.2(FANCI):c.2019T>C (p.His673=)
|
|
|
NM_001113378.2(FANCI):c.2029del (p.Trp677fs)
|
rs2151724213
|
|
NM_001113378.2(FANCI):c.202A>G (p.Ile68Val)
|
|
|
NM_001113378.2(FANCI):c.2048T>C (p.Ile683Thr)
|
|
|
NM_001113378.2(FANCI):c.2052C>G (p.Pro684=)
|
|
|
NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)
|
|
|
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
|
|
|
NM_001113378.2(FANCI):c.2063G>T (p.Gly688Val)
|
rs778157971
|
|
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del)
|
rs878854176
|
|
NM_001113378.2(FANCI):c.2074G>A (p.Glu692Lys)
|
|
|
NM_001113378.2(FANCI):c.2076G>A (p.Glu692=)
|
|
|
NM_001113378.2(FANCI):c.2078A>G (p.Glu693Gly)
|
|
|
NM_001113378.2(FANCI):c.207C>T (p.Tyr69=)
|
|
|
NM_001113378.2(FANCI):c.2083G>A (p.Glu695Lys)
|
|
|
NM_001113378.2(FANCI):c.2084A>C (p.Glu695Ala)
|
|
|
NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala)
|
|
|
NM_001113378.2(FANCI):c.2091A>G (p.Ala697=)
|
rs1262206533
|
|
NM_001113378.2(FANCI):c.2095T>A (p.Tyr699Asn)
|
rs769972292
|
|
NM_001113378.2(FANCI):c.2096A>G (p.Tyr699Cys)
|
rs774148630
|
|
NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)
|
|
|
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=)
|
rs376376537
|
|
NM_001113378.2(FANCI):c.2106A>G (p.Leu702=)
|
rs2151725234
|
|
NM_001113378.2(FANCI):c.2111A>T (p.Asp704Val)
|
|
|
NM_001113378.2(FANCI):c.2116T>C (p.Leu706=)
|
|
|
NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)
|
|
|
NM_001113378.2(FANCI):c.2121G>A (p.Glu707=)
|
rs2151725442
|
|
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=)
|
rs2054118261
|
|
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
|
|
|
NM_001113378.2(FANCI):c.2163T>C (p.Phe721=)
|
rs1263993972
|
|
NM_001113378.2(FANCI):c.2167C>T (p.Leu723=)
|
rs878854177
|
|
NM_001113378.2(FANCI):c.2169+15C>T
|
|
|
NM_001113378.2(FANCI):c.2169+18A>G
|
|
|
NM_001113378.2(FANCI):c.2169+1G>A
|
|
|
NM_001113378.2(FANCI):c.2169+2T>C
|
|
|
NM_001113378.2(FANCI):c.2169+9T>C
|
rs1205906508
|
|
NM_001113378.2(FANCI):c.2169+9T>G
|
|
|
NM_001113378.2(FANCI):c.2170-3dup
|
|
|
NM_001113378.2(FANCI):c.2170-4T>C
|
rs1167442446
|
|
NM_001113378.2(FANCI):c.2170-7C>A
|
rs759281018
|
|
NM_001113378.2(FANCI):c.2170-9_2170-8del
|
|
|
NM_001113378.2(FANCI):c.2175A>G (p.Lys725=)
|
|
|
NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro)
|
rs1596304843
|
|
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
|
|
|
NM_001113378.2(FANCI):c.2196C>T (p.Ser732=)
|
|
|
NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala)
|
rs2054122961
|
|
NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser)
|
|
|
NM_001113378.2(FANCI):c.219C>T (p.Ile73=)
|
rs928688700
|
|
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu)
|
rs2052680747
|
|
NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr)
|
|
|
NM_001113378.2(FANCI):c.222G>A (p.Gln74=)
|
|
|
NM_001113378.2(FANCI):c.2231T>C (p.Phe744Ser)
|
rs1196776537
|
|
NM_001113378.2(FANCI):c.2233C>T (p.Leu745Phe)
|
|
|
NM_001113378.2(FANCI):c.2236G>A (p.Val746Met)
|
|
|
NM_001113378.2(FANCI):c.2255T>G (p.Val752Gly)
|
|
|
NM_001113378.2(FANCI):c.2266T>G (p.Tyr756Asp)
|
rs752028405
|
|
NM_001113378.2(FANCI):c.226G>A (p.Val76Met)
|
rs2151253448
|
|
NM_001113378.2(FANCI):c.2270A>G (p.Asn757Ser)
|
rs111883566
|
|
NM_001113378.2(FANCI):c.2273T>G (p.Phe758Cys)
|
rs750735931
|
|
NM_001113378.2(FANCI):c.2274C>T (p.Phe758=)
|
|
|
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val)
|
rs780410177
|
|
NM_001113378.2(FANCI):c.2280A>G (p.Ile760Met)
|
|
|
NM_001113378.2(FANCI):c.2288T>A (p.Phe763Tyr)
|
|
|
NM_001113378.2(FANCI):c.2290A>C (p.Ser764Arg)
|
|
|
NM_001113378.2(FANCI):c.2291+10T>C
|
|
|
NM_001113378.2(FANCI):c.2291+15T>C
|
rs2151728206
|
|
NM_001113378.2(FANCI):c.2291+1G>A
|
|
|
NM_001113378.2(FANCI):c.2291+20C>A
|
|
|
NM_001113378.2(FANCI):c.2291+2T>A
|
rs1400441798
|
|
NM_001113378.2(FANCI):c.2291+5G>A
|
rs1315760080
|
|
NM_001113378.2(FANCI):c.2292-12T>C
|
|
|
NM_001113378.2(FANCI):c.2292-12dup
|
|
|
NM_001113378.2(FANCI):c.2292-17T>C
|
rs775115671
|
|
NM_001113378.2(FANCI):c.2292-18C>A
|
rs901102009
|
|
NM_001113378.2(FANCI):c.2292-1G>T
|
|
|
NM_001113378.2(FANCI):c.2292-20C>G
|
|
|
NM_001113378.2(FANCI):c.2292-3C>T
|
|
|
NM_001113378.2(FANCI):c.2292-5dup
|
rs1567165544
|
|
NM_001113378.2(FANCI):c.2292-8_2292-7insAT
|
|
|
NM_001113378.2(FANCI):c.2298T>C (p.Asn766=)
|
|
|
NM_001113378.2(FANCI):c.2299A>G (p.Arg767Gly)
|
|
|
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val)
|
rs772954096
|
|
NM_001113378.2(FANCI):c.2300G>T (p.Arg767Met)
|
rs1555447886
|
|
NM_001113378.2(FANCI):c.2302T>G (p.Phe768Val)
|
|
|
NM_001113378.2(FANCI):c.2303T>A (p.Phe768Tyr)
|
|
|
NM_001113378.2(FANCI):c.2306A>C (p.Glu769Ala)
|
|
|
NM_001113378.2(FANCI):c.2307G>A (p.Glu769=)
|
|
|
NM_001113378.2(FANCI):c.2307G>C (p.Glu769Asp)
|
|
|
NM_001113378.2(FANCI):c.2310C>T (p.Asp770=)
|
rs1169269440
|
|
NM_001113378.2(FANCI):c.2314C>T (p.Leu772=)
|
|
|
NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn)
|
rs1192891263
|
|
NM_001113378.2(FANCI):c.2319C>T (p.Ser773=)
|
|
|
NM_001113378.2(FANCI):c.231A>G (p.Glu77=)
|
|
|
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
|
|
|
NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg)
|
|
|
NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr)
|
|
|
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs)
|
rs1567165630
|
|
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
|
|
|
NM_001113378.2(FANCI):c.2340dup (p.Leu781fs)
|
|
|
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
|
|
|
NM_001113378.2(FANCI):c.2343C>G (p.Leu781=)
|
rs1377037041
|
|
NM_001113378.2(FANCI):c.2343C>T (p.Leu781=)
|
|
|
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs)
|
rs2151740576
|
|
NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly)
|
rs1363536852
|
|
NM_001113378.2(FANCI):c.234G>A (p.Ser78=)
|
|
|
NM_001113378.2(FANCI):c.2352T>A (p.Ile784=)
|
|
|
NM_001113378.2(FANCI):c.2364A>G (p.Lys788=)
|
|
|
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val)
|
rs925359228
|
|
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu)
|
rs1415605220
|
|
NM_001113378.2(FANCI):c.2370T>A (p.Gly790=)
|
rs2151740808
|
|
NM_001113378.2(FANCI):c.237G>A (p.Gly79=)
|
|
|
NM_001113378.2(FANCI):c.2382T>G (p.Thr794=)
|
rs2151740871
|
|
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
|
|
|
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val)
|
rs761136936
|
|
NM_001113378.2(FANCI):c.2394C>A (p.Asn798Lys)
|
|
|
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala)
|
rs1163712614
|
|
NM_001113378.2(FANCI):c.2400A>G (p.Thr800=)
|
|
|
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
|
|
|
NM_001113378.2(FANCI):c.241T>C (p.Leu81=)
|
|
|
NM_001113378.2(FANCI):c.2424A>G (p.Lys808=)
|
|
|
NM_001113378.2(FANCI):c.2428G>T (p.Val810Leu)
|
rs779973664
|
|
NM_001113378.2(FANCI):c.2440C>G (p.Leu814Val)
|
rs2151741592
|
|
NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)
|
|
|
NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly)
|
rs370996106
|
|
NM_001113378.2(FANCI):c.2456+10T>C
|
rs2151741937
|
|
NM_001113378.2(FANCI):c.2456+12C>G
|
|
|
NM_001113378.2(FANCI):c.2456+16A>G
|
|
|
NM_001113378.2(FANCI):c.2456+17G>C
|
|
|
NM_001113378.2(FANCI):c.2456+19G>A
|
|
|
NM_001113378.2(FANCI):c.2456+1G>A
|
|
|
NM_001113378.2(FANCI):c.2457-10C>G
|
|
|
NM_001113378.2(FANCI):c.2457-11TC[3]
|
|
|
NM_001113378.2(FANCI):c.2457-12G>A
|
|
|
NM_001113378.2(FANCI):c.2457-12G>C
|
|
|
NM_001113378.2(FANCI):c.2457-12_2457-3del
|
|
|
NM_001113378.2(FANCI):c.2457-16C>G
|
|
|
NM_001113378.2(FANCI):c.2457-16C>T
|
|
|
NM_001113378.2(FANCI):c.2457-18C>T
|
|
|
NM_001113378.2(FANCI):c.2457-20C>G
|
|
|
NM_001113378.2(FANCI):c.2457-20C>T
|
|
|
NM_001113378.2(FANCI):c.2457-23TC[3]
|
rs751389631
|
|
NM_001113378.2(FANCI):c.2457-2A>G
|
rs2054196709
|
|
NM_001113378.2(FANCI):c.2457-4C>A
|
|
|
NM_001113378.2(FANCI):c.2457-4C>T
|
|
|
NM_001113378.2(FANCI):c.2457-7T>C
|
|
|
NM_001113378.2(FANCI):c.2457-8C>G
|
rs2151754256
|
|
NM_001113378.2(FANCI):c.2457-8C>T
|
rs2151754256
|
|
NM_001113378.2(FANCI):c.2458G>A (p.Asp820Asn)
|
rs2151754385
|
|
NM_001113378.2(FANCI):c.2458G>T (p.Asp820Tyr)
|
rs2151754385
|
|
NM_001113378.2(FANCI):c.2459A>G (p.Asp820Gly)
|
|
|
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
|
|
|
NM_001113378.2(FANCI):c.2473C>T (p.His825Tyr)
|
|
|
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
|
|
|
NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu)
|
rs2151253685
|
|
NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg)
|
|
|
NM_001113378.2(FANCI):c.2484C>T (p.Ser828=)
|
rs750041727
|
|
NM_001113378.2(FANCI):c.2496C>T (p.Leu832=)
|
|
|
NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly)
|
|
|
NM_001113378.2(FANCI):c.24A>G (p.Leu8=)
|
|
|
NM_001113378.2(FANCI):c.2511G>C (p.Glu837Asp)
|
rs2151754914
|
|
NM_001113378.2(FANCI):c.2518C>T (p.Arg840Cys)
|
|
|
NM_001113378.2(FANCI):c.2519G>T (p.Arg840Leu)
|
rs777483611
|
|
NM_001113378.2(FANCI):c.2520C>A (p.Arg840=)
|
|
|
NM_001113378.2(FANCI):c.2520C>T (p.Arg840=)
|
|
|
NM_001113378.2(FANCI):c.2532T>C (p.Asn844=)
|
|
|
NM_001113378.2(FANCI):c.2533G>A (p.Val845Ile)
|
rs1596307741
|
|
NM_001113378.2(FANCI):c.2544G>A (p.Gln848=)
|
|
|
NM_001113378.2(FANCI):c.2550A>G (p.Val850=)
|
|
|
NM_001113378.2(FANCI):c.2553G>A (p.Gln851=)
|
|
|
NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)
|
|
|
NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro)
|
rs541976745
|
|
NM_001113378.2(FANCI):c.2568A>G (p.Thr856=)
|
|
|
NM_001113378.2(FANCI):c.2571G>A (p.Gly857=)
|
rs2151755630
|
|
NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly)
|
|
|
NM_001113378.2(FANCI):c.2583C>A (p.Gly861=)
|
|
|
NM_001113378.2(FANCI):c.2586T>C (p.Pro862=)
|
|
|
NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly)
|
rs2054201315
|
|
NM_001113378.2(FANCI):c.258G>A (p.Ala86=)
|
rs750230813
|
|
NM_001113378.2(FANCI):c.258G>T (p.Ala86=)
|
|
|
NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val)
|
|
|
NM_001113378.2(FANCI):c.2592C>A (p.Gly864=)
|
|
|
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
|
|
|
NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn)
|
|
|
NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu)
|
|
|
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
|
|
|
NM_001113378.2(FANCI):c.2616G>A (p.Gln872=)
|
|
|
NM_001113378.2(FANCI):c.2619C>T (p.Asn873=)
|
|
|
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
|
|
|
NM_001113378.2(FANCI):c.2636+10T>A
|
|
|
NM_001113378.2(FANCI):c.2636+11C>G
|
rs1596307878
|
|
NM_001113378.2(FANCI):c.2636+12C>G
|
|
|
NM_001113378.2(FANCI):c.2636+18C>A
|
|
|
NM_001113378.2(FANCI):c.2636+18C>T
|
|
|
NM_001113378.2(FANCI):c.2636+7C>A
|
rs1264792365
|
|
NM_001113378.2(FANCI):c.2636+7C>T
|
|
|
NM_001113378.2(FANCI):c.2636+8A>G
|
|
|
NM_001113378.2(FANCI):c.2636+9C>A
|
|
|
NM_001113378.2(FANCI):c.2636+9C>T
|
|
|
NM_001113378.2(FANCI):c.2637-12C>A
|
|
|
NM_001113378.2(FANCI):c.2637-12C>G
|
|
|
NM_001113378.2(FANCI):c.2637-15T>C
|
rs2151838036
|
|
NM_001113378.2(FANCI):c.2637-16C>T
|
|
|
NM_001113378.2(FANCI):c.2637-18C>T
|
|
|
NM_001113378.2(FANCI):c.2637-19C>T
|
|
|
NM_001113378.2(FANCI):c.2637-1G>C
|
|
|
NM_001113378.2(FANCI):c.2637-5T>C
|
|
|
NM_001113378.2(FANCI):c.2640C>A (p.Val880=)
|
|
|
NM_001113378.2(FANCI):c.2644C>T (p.Leu882=)
|
|
|
NM_001113378.2(FANCI):c.2646A>C (p.Leu882=)
|
|
|
NM_001113378.2(FANCI):c.264G>A (p.Glu88=)
|
|
|
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser)
|
rs749604758
|
|
NM_001113378.2(FANCI):c.2658T>C (p.Thr886=)
|
|
|
NM_001113378.2(FANCI):c.2658T>G (p.Thr886=)
|
|
|
NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu)
|
|
|
NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser)
|
|
|
NM_001113378.2(FANCI):c.2670T>C (p.Thr890=)
|
|
|
NM_001113378.2(FANCI):c.2671T>G (p.Ser891Ala)
|
rs2054461834
|
|
NM_001113378.2(FANCI):c.2674G>T (p.Val892Leu)
|
rs760751687
|
|
NM_001113378.2(FANCI):c.2677G>A (p.Glu893Lys)
|
|
|
NM_001113378.2(FANCI):c.2678A>C (p.Glu893Ala)
|
|
|
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
|
|
|
NM_001113378.2(FANCI):c.2683T>G (p.Ser895Ala)
|
rs1567170319
|
|
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr)
|
rs530089482
|
|
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs)
|
rs745893292
|
|
NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp)
|
|
|
NM_001113378.2(FANCI):c.2703A>G (p.Gly901=)
|
|
|
NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile)
|
rs1421890045
|
|
NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn)
|
|
|
NM_001113378.2(FANCI):c.2724C>T (p.Cys908=)
|
|
|
NM_001113378.2(FANCI):c.2727G>A (p.Leu909=)
|
|
|
NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln)
|
rs1261021714
|
|
NM_001113378.2(FANCI):c.2733T>C (p.Gly911=)
|
|
|
NM_001113378.2(FANCI):c.2736A>G (p.Leu912=)
|
rs768880495
|
|
NM_001113378.2(FANCI):c.2738A>C (p.Gln913Pro)
|
|
|
NM_001113378.2(FANCI):c.2745_2747del (p.Phe916del)
|
|
|
NM_001113378.2(FANCI):c.2746T>C (p.Phe916Leu)
|
|
|
NM_001113378.2(FANCI):c.2747T>G (p.Phe916Cys)
|
|
|
NM_001113378.2(FANCI):c.2750G>A (p.Ser917Asn)
|
rs2151839260
|
|
NM_001113378.2(FANCI):c.2752G>A (p.Ala918Thr)
|
|
|
NM_001113378.2(FANCI):c.2766C>G (p.Phe922Leu)
|
rs2054464932
|
|
NM_001113378.2(FANCI):c.2776A>C (p.Lys926Gln)
|
rs1596316742
|
|
NM_001113378.2(FANCI):c.2777A>C (p.Lys926Thr)
|
rs1386770100
|
|
NM_001113378.2(FANCI):c.2781T>A (p.Ile927=)
|
rs771106622
|
|
NM_001113378.2(FANCI):c.2782C>G (p.Gln928Glu)
|
|
|
NM_001113378.2(FANCI):c.2789T>G (p.Phe930Cys)
|
|
|
NM_001113378.2(FANCI):c.2790T>A (p.Phe930Leu)
|
|
|
NM_001113378.2(FANCI):c.2793C>T (p.Leu931=)
|
|
|
NM_001113378.2(FANCI):c.2797G>A (p.Ala933Thr)
|
|
|
NM_001113378.2(FANCI):c.2803+11C>G
|
|
|
NM_001113378.2(FANCI):c.2803+13G>A
|
|
|
NM_001113378.2(FANCI):c.2803+16T>A
|
|
|
NM_001113378.2(FANCI):c.2803+18A>T
|
|
|
NM_001113378.2(FANCI):c.2803+19A>G
|
|
|
NM_001113378.2(FANCI):c.2803+6C>T
|
|
|
NM_001113378.2(FANCI):c.2803+8T>C
|
|
|
NM_001113378.2(FANCI):c.2804-19G>A
|
|
|
NM_001113378.2(FANCI):c.2804-1G>C
|
rs2054480330
|
|
NM_001113378.2(FANCI):c.2804-2A>T
|
|
|
NM_001113378.2(FANCI):c.2804-4C>A
|
|
|
NM_001113378.2(FANCI):c.2804-5C>G
|
|
|
NM_001113378.2(FANCI):c.2804-9C>T
|
|
|
NM_001113378.2(FANCI):c.280A>G (p.Met94Val)
|
|
|
NM_001113378.2(FANCI):c.2810C>G (p.Thr937Arg)
|
rs2151844601
|
|
NM_001113378.2(FANCI):c.2822_2824del (p.Gly941del)
|
|
|
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
|
|
|
NM_001113378.2(FANCI):c.2832A>G (p.Arg944=)
|
rs79685648
|
|
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
|
|
|
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
|
|
|
NM_001113378.2(FANCI):c.283C>T (p.Leu95=)
|
|
|
NM_001113378.2(FANCI):c.2840C>T (p.Ala947Val)
|
|
|
NM_001113378.2(FANCI):c.2842G>C (p.Asp948His)
|
|
|
NM_001113378.2(FANCI):c.2843A>G (p.Asp948Gly)
|
rs2054481871
|
|
NM_001113378.2(FANCI):c.2847C>T (p.Val949=)
|
|
|
NM_001113378.2(FANCI):c.2849G>C (p.Ser950Thr)
|
rs760327010
|
|
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile)
|
rs760327010
|
|
NM_001113378.2(FANCI):c.2850T>C (p.Ser950=)
|
|
|
NM_001113378.2(FANCI):c.2854A>G (p.Thr952Ala)
|
|
|
NM_001113378.2(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal)
|
rs1555448946
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
|
|
|
NM_001113378.2(FANCI):c.2866G>A (p.Ala956Thr)
|
|
|
NM_001113378.2(FANCI):c.2868A>G (p.Ala956=)
|
rs2151845184
|
|
NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)
|
|
|
NM_001113378.2(FANCI):c.2874G>C (p.Gln958His)
|
|
|
NM_001113378.2(FANCI):c.2877C>A (p.Ile959=)
|
|
|
NM_001113378.2(FANCI):c.288+10C>G
|
|
|
NM_001113378.2(FANCI):c.288+13del
|
rs748948721
|
|
NM_001113378.2(FANCI):c.288+18_288+19delinsTC
|
rs2151254662
|
|
NM_001113378.2(FANCI):c.288+19A>T
|
|
|
NM_001113378.2(FANCI):c.288+19del
|
|
|
NM_001113378.2(FANCI):c.2889+13G>T
|
|
|
NM_001113378.2(FANCI):c.2889+16A>G
|
|
|
NM_001113378.2(FANCI):c.2889+20T>A
|
rs2151845568
|
|
NM_001113378.2(FANCI):c.2889+2T>C
|
|
|
NM_001113378.2(FANCI):c.289-13T>C
|
|
|
NM_001113378.2(FANCI):c.289-15C>G
|
|
|
NM_001113378.2(FANCI):c.289-15C>T
|
|
|
NM_001113378.2(FANCI):c.289-17A>G
|
rs2052714114
|
|
NM_001113378.2(FANCI):c.289-18T>C
|
|
|
NM_001113378.2(FANCI):c.2890-15G>A
|
|
|
NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys)
|
rs2151859007
|
|
NM_001113378.2(FANCI):c.2892G>A (p.Arg964=)
|
rs780232353
|
|
NM_001113378.2(FANCI):c.2896T>C (p.Leu966=)
|
rs1042620375
|
|
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
|
|
|
NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg)
|
rs376798440
|
|
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
|
|
|
NM_001113378.2(FANCI):c.2936G>A (p.Ser979Asn)
|
rs769453869
|
|
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr)
|
rs769453869
|
|
NM_001113378.2(FANCI):c.2937C>T (p.Ser979=)
|
|
|
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
|
|
|
NM_001113378.2(FANCI):c.2949C>A (p.Leu983=)
|
rs2151859425
|
|
NM_001113378.2(FANCI):c.294C>T (p.His98=)
|
|
|
NM_001113378.2(FANCI):c.2953C>G (p.Leu985Val)
|
|
|
NM_001113378.2(FANCI):c.2958C>T (p.Val986=)
|
|
|
NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)
|
|
|
NM_001113378.2(FANCI):c.2961G>A (p.Thr987=)
|
|
|
NM_001113378.2(FANCI):c.2961G>C (p.Thr987=)
|
|
|
NM_001113378.2(FANCI):c.2961G>T (p.Thr987=)
|
|
|
NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile)
|
rs762231803
|
|
NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr)
|
|
|
NM_001113378.2(FANCI):c.2985A>G (p.Leu995=)
|
|
|
NM_001113378.2(FANCI):c.2990A>T (p.Glu997Val)
|
rs1567171375
|
|
NM_001113378.2(FANCI):c.2998T>A (p.Ser1000Thr)
|
rs2151859745
|
|
NM_001113378.2(FANCI):c.2T>G (p.Met1Arg)
|
|
|
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs)
|
rs1596318782
|
|
NM_001113378.2(FANCI):c.3006+12G>A
|
|
|
NM_001113378.2(FANCI):c.3006+13C>A
|
|
|
NM_001113378.2(FANCI):c.3006+13C>T
|
rs1412674861
|
|
NM_001113378.2(FANCI):c.3006+1G>A
|
|
|
NM_001113378.2(FANCI):c.3006+20A>C
|
rs1173017190
|
|
NM_001113378.2(FANCI):c.3006+4C>G
|
|
|
NM_001113378.2(FANCI):c.3006+7G>A
|
|
|
NM_001113378.2(FANCI):c.3007-18G>A
|
|
|
NM_001113378.2(FANCI):c.3007-1G>A
|
|
|
NM_001113378.2(FANCI):c.3007-1G>C
|
|
|
NM_001113378.2(FANCI):c.3007-3T>A
|
|
|
NM_001113378.2(FANCI):c.3007-9C>G
|
|
|
NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser)
|
rs770185523
|
|
NM_001113378.2(FANCI):c.3024C>T (p.Ser1008=)
|
|
|
NM_001113378.2(FANCI):c.3030A>G (p.Thr1010=)
|
|
|
NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu)
|
|
|
NM_001113378.2(FANCI):c.3036G>A (p.Lys1012=)
|
|
|
NM_001113378.2(FANCI):c.3036G>T (p.Lys1012Asn)
|
|
|
NM_001113378.2(FANCI):c.3054C>G (p.Ser1018Arg)
|
|
|
NM_001113378.2(FANCI):c.3056G>C (p.Arg1019Pro)
|
rs772401747
|
|
NM_001113378.2(FANCI):c.3058+10C>T
|
rs1375877085
|
|
NM_001113378.2(FANCI):c.3058+15A>G
|
|
|
NM_001113378.2(FANCI):c.3058+1G>C
|
|
|
NM_001113378.2(FANCI):c.3058+4A>G
|
rs2054616468
|
|
NM_001113378.2(FANCI):c.3058+8T>C
|
|
|
NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys)
|
|
|
NM_001113378.2(FANCI):c.3059-11C>T
|
rs2054667046
|
|
NM_001113378.2(FANCI):c.3059-14C>A
|
|
|
NM_001113378.2(FANCI):c.3059-18T>C
|
|
|
NM_001113378.2(FANCI):c.3059-4C>G
|
rs747570773
|
|
NM_001113378.2(FANCI):c.3059-4C>T
|
rs747570773
|
|
NM_001113378.2(FANCI):c.3059-4dup
|
rs1317953100
|
|
NM_001113378.2(FANCI):c.3061G>A (p.Asp1021Asn)
|
rs2054667740
|
|
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr)
|
rs2054667740
|
|
NM_001113378.2(FANCI):c.3062A>G (p.Asp1021Gly)
|
rs1290229004
|
|
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser)
|
rs1359308008
|
|
NM_001113378.2(FANCI):c.3066C>T (p.Ala1022=)
|
|
|
NM_001113378.2(FANCI):c.3075C>T (p.Cys1025=)
|
|
|
NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=)
|
rs2151913000
|
|
NM_001113378.2(FANCI):c.3096C>T (p.Leu1032=)
|
rs2151913106
|
|
NM_001113378.2(FANCI):c.309A>G (p.Pro103=)
|
|
|
NM_001113378.2(FANCI):c.3105G>A (p.Leu1035=)
|
|
|
NM_001113378.2(FANCI):c.3105G>C (p.Leu1035=)
|
|
|
NM_001113378.2(FANCI):c.3113C>T (p.Ser1038Leu)
|
rs2151913209
|
|
NM_001113378.2(FANCI):c.3114G>T (p.Ser1038=)
|
rs567952571
|
|
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
|
|
|
NM_001113378.2(FANCI):c.3117T>C (p.Tyr1039=)
|
rs2151913256
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg)
|
|
|
NM_001113378.2(FANCI):c.3129C>T (p.Val1043=)
|
|
|
NM_001113378.2(FANCI):c.312A>G (p.Leu104=)
|
|
|
NM_001113378.2(FANCI):c.3136C>T (p.Leu1046=)
|
|
|
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
|
|
|
NM_001113378.2(FANCI):c.3147G>A (p.Leu1049=)
|
|
|
NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe)
|
|
|
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
|
|
|
NM_001113378.2(FANCI):c.3150C>T (p.Ser1050=)
|
|
|
NM_001113378.2(FANCI):c.3157A>G (p.Ile1053Val)
|
rs1486397190
|
|
NM_001113378.2(FANCI):c.3161A>G (p.His1054Arg)
|
|
|
NM_001113378.2(FANCI):c.3163G>A (p.Gly1055Arg)
|
|
|
NM_001113378.2(FANCI):c.3165G>A (p.Gly1055=)
|
rs1596324375
|
|
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn)
|
rs2054670897
|
|
NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln)
|
|
|
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=)
|
rs564447394
|
|
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg)
|
rs2054671049
|
|
NM_001113378.2(FANCI):c.3179T>C (p.Ile1060Thr)
|
rs201376236
|
|
NM_001113378.2(FANCI):c.3183C>T (p.Asp1061=)
|
|
|
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
|
|
|
NM_001113378.2(FANCI):c.3186+10T>C
|
|
|
NM_001113378.2(FANCI):c.3186+14C>T
|
|
|
NM_001113378.2(FANCI):c.3186+6A>G
|
rs910020158
|
|
NM_001113378.2(FANCI):c.3187-11C>G
|
|
|
NM_001113378.2(FANCI):c.3187-12T>C
|
|
|
NM_001113378.2(FANCI):c.3187-13T>G
|
|
|
NM_001113378.2(FANCI):c.3187-14C>A
|
|
|
NM_001113378.2(FANCI):c.3187-16C>T
|
|
|
NM_001113378.2(FANCI):c.3187-18C>G
|
|
|
NM_001113378.2(FANCI):c.3187-2A>G
|
|
|
NM_001113378.2(FANCI):c.3187-3C>G
|
rs2054676661
|
|
NM_001113378.2(FANCI):c.3187-7del
|
|
|
NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)
|
|
|
NM_001113378.2(FANCI):c.3195G>A (p.Glu1065=)
|
|
|
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
|
|
|
NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly)
|
rs2052715611
|
|
NM_001113378.2(FANCI):c.3219A>G (p.Ala1073=)
|
|
|
NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu)
|
rs1450182027
|
|
NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del)
|
|
|
NM_001113378.2(FANCI):c.3231G>A (p.Leu1077=)
|
|
|
NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr)
|
|
|
NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=)
|
rs1596324690
|
|
NM_001113378.2(FANCI):c.3237G>T (p.Thr1079=)
|
|
|
NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val)
|
|
|
NM_001113378.2(FANCI):c.3246C>T (p.Pro1082=)
|
|
|
NM_001113378.2(FANCI):c.324A>G (p.Leu108=)
|
rs1427386763
|
|
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe)
|
rs533779983
|
|
NM_001113378.2(FANCI):c.3255+10G>A
|
|
|
NM_001113378.2(FANCI):c.3255+16G>A
|
rs2151915712
|
|
NM_001113378.2(FANCI):c.3255+1G>C
|
rs779079622
|
|
NM_001113378.2(FANCI):c.3256-17G>C
|
|
|
NM_001113378.2(FANCI):c.3256-19A>G
|
|
|
NM_001113378.2(FANCI):c.3256-8_3256-4del
|
|
|
NM_001113378.2(FANCI):c.3256-9_3256-8del
|
rs752376850
|
|
NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile)
|
rs2151267729
|
|
NM_001113378.2(FANCI):c.3264T>A (p.Val1088=)
|
|
|
NM_001113378.2(FANCI):c.3265C>T (p.Leu1089=)
|
|
|
NM_001113378.2(FANCI):c.3276C>T (p.Ala1092=)
|
|
|
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
|
rs758575911
|
|
NM_001113378.2(FANCI):c.327C>T (p.Ala109=)
|
|
|
NM_001113378.2(FANCI):c.3282G>A (p.Lys1094=)
|
|
|
NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile)
|
rs1596325131
|
|
NM_001113378.2(FANCI):c.3285T>C (p.Val1095=)
|
rs1567174233
|
|
NM_001113378.2(FANCI):c.3286C>T (p.Leu1096=)
|
|
|
NM_001113378.2(FANCI):c.3288A>T (p.Leu1096=)
|
|
|
NM_001113378.2(FANCI):c.3291A>G (p.Glu1097=)
|
rs2054690236
|
|
NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)
|
|
|
NM_001113378.2(FANCI):c.3306A>T (p.Leu1102=)
|
|
|
NM_001113378.2(FANCI):c.3309C>T (p.Ile1103=)
|
|
|
NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro)
|
rs768735814
|
|
NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser)
|
|
|
NM_001113378.2(FANCI):c.3312C>T (p.Thr1104=)
|
|
|
NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile)
|
|
|
NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln)
|
rs2151267825
|
|
NM_001113378.2(FANCI):c.3324A>G (p.Gly1108=)
|
|
|
NM_001113378.2(FANCI):c.3330G>A (p.Val1110=)
|
rs1596325178
|
|
NM_001113378.2(FANCI):c.3333C>T (p.Ser1111=)
|
|
|
NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser)
|
rs2151919026
|
|
NM_001113378.2(FANCI):c.3349+10G>A
|
rs1337260318
|
|
NM_001113378.2(FANCI):c.3349+17del
|
|
|
NM_001113378.2(FANCI):c.3350-8C>T
|
rs1398425984
|
|
NM_001113378.2(FANCI):c.3354G>C (p.Glu1118Asp)
|
|
|
NM_001113378.2(FANCI):c.3354G>T (p.Glu1118Asp)
|
rs760199293
|
|
NM_001113378.2(FANCI):c.3355G>A (p.Ala1119Thr)
|
|
|
NM_001113378.2(FANCI):c.3357C>G (p.Ala1119=)
|
|
|
NM_001113378.2(FANCI):c.3358T>A (p.Ser1120Thr)
|
|
|
NM_001113378.2(FANCI):c.336T>C (p.Phe112=)
|
|
|
NM_001113378.2(FANCI):c.3370A>C (p.Thr1124Pro)
|
|
|
NM_001113378.2(FANCI):c.3370A>G (p.Thr1124Ala)
|
rs2151923443
|
|
NM_001113378.2(FANCI):c.3371C>G (p.Thr1124Ser)
|
|
|
NM_001113378.2(FANCI):c.337A>C (p.Ile113Leu)
|
rs766158703
|
|
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu)
|
rs2054705069
|
|
NM_001113378.2(FANCI):c.3384G>A (p.Gln1128=)
|
rs988319051
|
|
NM_001113378.2(FANCI):c.3389T>A (p.Val1130Asp)
|
rs764412863
|
|
NM_001113378.2(FANCI):c.3391G>C (p.Glu1131Gln)
|
|
|
NM_001113378.2(FANCI):c.3392A>G (p.Glu1131Gly)
|
|
|
NM_001113378.2(FANCI):c.3396A>G (p.Lys1132=)
|
|
|
NM_001113378.2(FANCI):c.3399T>C (p.Ala1133=)
|
|
|
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
|
|
|
NM_001113378.2(FANCI):c.3403A>T (p.Ile1135Phe)
|
|
|
NM_001113378.2(FANCI):c.3411A>G (p.Gln1137=)
|
rs781569040
|
|
NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His)
|
|
|
NM_001113378.2(FANCI):c.3423G>A (p.Leu1141=)
|
rs1596325708
|
|
NM_001113378.2(FANCI):c.3423G>C (p.Leu1141=)
|
|
|
NM_001113378.2(FANCI):c.3426T>C (p.Leu1142=)
|
rs748087226
|
|
NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg)
|
rs772071601
|
|
NM_001113378.2(FANCI):c.342T>C (p.Ser114=)
|
|
|
NM_001113378.2(FANCI):c.3438C>T (p.His1146=)
|
|
|
NM_001113378.2(FANCI):c.345T>C (p.Ala115=)
|
|
|
NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser)
|
|
|
NM_001113378.2(FANCI):c.3462A>G (p.Pro1154=)
|
|
|
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter)
|
rs2151924296
|
|
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
|
|
|
NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu)
|
rs2054708416
|
|
NM_001113378.2(FANCI):c.3486G>A (p.Leu1162=)
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.3495C>G (p.Asp1165Glu)
|
|
|
NM_001113378.2(FANCI):c.3498G>C (p.Leu1166Phe)
|
|
|
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
|
|
|
NM_001113378.2(FANCI):c.3500G>T (p.Cys1167Phe)
|
rs1223721098
|
|
NM_001113378.2(FANCI):c.3506T>C (p.Met1169Thr)
|
rs2151924528
|
|
NM_001113378.2(FANCI):c.350G>C (p.Arg117Thr)
|
|
|
NM_001113378.2(FANCI):c.3516A>G (p.Thr1172=)
|
|
|
NM_001113378.2(FANCI):c.3520A>G (p.Thr1174Ala)
|
|
|
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
|
|
|
NM_001113378.2(FANCI):c.3525C>T (p.Ala1175=)
|
rs114810692
|
|
NM_001113378.2(FANCI):c.3528T>C (p.Leu1176=)
|
|
|
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
|
|
|
NM_001113378.2(FANCI):c.3531C>A (p.Val1177=)
|
|
|
NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly)
|
|
|
NM_001113378.2(FANCI):c.3537+18G>A
|
|
|
NM_001113378.2(FANCI):c.3537+19C>G
|
rs2054711237
|
|
NM_001113378.2(FANCI):c.3537+19C>T
|
|
|
NM_001113378.2(FANCI):c.3537+3_3537+6del
|
rs780264785
|
|
NM_001113378.2(FANCI):c.3538-11T>G
|
|
|
NM_001113378.2(FANCI):c.3538-12T>C
|
|
|
NM_001113378.2(FANCI):c.3538-12T>G
|
|
|
NM_001113378.2(FANCI):c.3538-19A>G
|
|
|
NM_001113378.2(FANCI):c.3538-2A>T
|
rs1407605188
|
|
NM_001113378.2(FANCI):c.3538-6T>A
|
|
|
NM_001113378.2(FANCI):c.3538-6del
|
|
|
NM_001113378.2(FANCI):c.3538-6dup
|
|
|
NM_001113378.2(FANCI):c.3543C>G (p.Leu1181=)
|
|
|
NM_001113378.2(FANCI):c.3546G>A (p.Gln1182=)
|
rs1349708901
|
|
NM_001113378.2(FANCI):c.3549G>C (p.Val1183=)
|
|
|
NM_001113378.2(FANCI):c.3558C>T (p.Ser1186=)
|
|
|
NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr)
|
|
|
NM_001113378.2(FANCI):c.3561C>A (p.Ser1187=)
|
|
|
NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala)
|
|
|
NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val)
|
rs2151940603
|
|
NM_001113378.2(FANCI):c.3570T>A (p.Ile1190=)
|
|
|
NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile)
|
|
|
NM_001113378.2(FANCI):c.3591+13del
|
|
|
NM_001113378.2(FANCI):c.3591+15C>G
|
|
|
NM_001113378.2(FANCI):c.3591+16C>G
|
|
|
NM_001113378.2(FANCI):c.3591+16C>T
|
|
|
NM_001113378.2(FANCI):c.3591+4A>T
|
rs774180579
|
|
NM_001113378.2(FANCI):c.3591+8G>A
|
|
|
NM_001113378.2(FANCI):c.3592-12C>T
|
rs2054775391
|
|
NM_001113378.2(FANCI):c.3592-14C>T
|
|
|
NM_001113378.2(FANCI):c.3592-19C>T
|
|
|
NM_001113378.2(FANCI):c.3592-20C>T
|
|
|
NM_001113378.2(FANCI):c.3592-6G>T
|
|
|
NM_001113378.2(FANCI):c.3592-7_3592-5del
|
|
|
NM_001113378.2(FANCI):c.3594G>C (p.Val1198=)
|
|
|
NM_001113378.2(FANCI):c.3600G>A (p.Leu1200=)
|
|
|
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)
|
rs747326740
|
|
NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu)
|
|
|
NM_001113378.2(FANCI):c.3615G>C (p.Leu1205=)
|
|
|
NM_001113378.2(FANCI):c.3621C>A (p.Pro1207=)
|
|
|
NM_001113378.2(FANCI):c.3621C>G (p.Pro1207=)
|
|
|
NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=)
|
rs1448880215
|
|
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs)
|
rs1567175626
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.3630T>C (p.Tyr1210=)
|
|
|
NM_001113378.2(FANCI):c.3636C>T (p.Phe1212=)
|
|
|
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val)
|
rs767466504
|
|
NM_001113378.2(FANCI):c.363A>G (p.Leu121=)
|
rs1596243244
|
|
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=)
|
rs760364969
|
|
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile)
|
rs978000003
|
|
NM_001113378.2(FANCI):c.3646G>T (p.Val1216Leu)
|
rs978000003
|
|
NM_001113378.2(FANCI):c.3651+12A>G
|
|
|
NM_001113378.2(FANCI):c.3651+14A>G
|
|
|
NM_001113378.2(FANCI):c.3651+18A>C
|
|
|
NM_001113378.2(FANCI):c.3651+3A>G
|
rs2151942001
|
|
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
|
rs766147964
|
|
NM_001113378.2(FANCI):c.3652-10A>G
|
rs202231175
|
|
NM_001113378.2(FANCI):c.3652-10A>T
|
rs202231175
|
|
NM_001113378.2(FANCI):c.3652-11T>C
|
|
|
NM_001113378.2(FANCI):c.3652-12C>A
|
|
|
NM_001113378.2(FANCI):c.3652-16G>A
|
|
|
NM_001113378.2(FANCI):c.3652-16G>C
|
rs537857278
|
|
NM_001113378.2(FANCI):c.3652-18del
|
rs763430013
|
|
NM_001113378.2(FANCI):c.3652-1G>T
|
|
|
NM_001113378.2(FANCI):c.3653A>G (p.Asn1218Ser)
|
rs1352752568
|
|
NM_001113378.2(FANCI):c.3654T>C (p.Asn1218=)
|
|
|
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)
|
rs1567179036
|
|
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
|
|
|
NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val)
|
|
|
NM_001113378.2(FANCI):c.3669G>C (p.Leu1223=)
|
|
|
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs)
|
rs1596336945
|
|
NM_001113378.2(FANCI):c.366G>A (p.Val122=)
|
|
|
NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp)
|
|
|
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
|
|
|
NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser)
|
|
|
NM_001113378.2(FANCI):c.3678G>C (p.Thr1226=)
|
rs748187517
|
|
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
|
|
|
NM_001113378.2(FANCI):c.3689A>T (p.Lys1230Met)
|
|
|
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu)
|
rs1252915442
|
|
NM_001113378.2(FANCI):c.3696A>G (p.Lys1232=)
|
|
|
NM_001113378.2(FANCI):c.3696A>T (p.Lys1232Asn)
|
rs2055028402
|
|
NM_001113378.2(FANCI):c.3709G>A (p.Ala1237Thr)
|
rs751025656
|
|
NM_001113378.2(FANCI):c.3714A>T (p.Thr1238=)
|
|
|
NM_001113378.2(FANCI):c.3720+11G>A
|
|
|
NM_001113378.2(FANCI):c.3720+14A>G
|
rs200012909
|
|
NM_001113378.2(FANCI):c.3720+14A>T
|
|
|
NM_001113378.2(FANCI):c.3720+16T>A
|
|
|
NM_001113378.2(FANCI):c.3720+16_3720+19del
|
rs759240153
|
|
NM_001113378.2(FANCI):c.3720+20C>A
|
|
|
NM_001113378.2(FANCI):c.3720+20C>G
|
|
|
NM_001113378.2(FANCI):c.3720+20C>T
|
rs572665348
|
|
NM_001113378.2(FANCI):c.3721-16T>C
|
|
|
NM_001113378.2(FANCI):c.3721-20C>G
|
rs2152016160
|
|
NM_001113378.2(FANCI):c.3721-20C>T
|
|
|
NM_001113378.2(FANCI):c.3721-6C>T
|
rs2152016648
|
|
NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys)
|
rs2055130158
|
|
NM_001113378.2(FANCI):c.372A>G (p.Gly124=)
|
rs2151268209
|
|
NM_001113378.2(FANCI):c.3733C>T (p.Arg1245Trp)
|
rs905867236
|
|
NM_001113378.2(FANCI):c.3737A>C (p.Glu1246Ala)
|
rs2152016970
|
|
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val)
|
rs2055130868
|
|
NM_001113378.2(FANCI):c.3753T>G (p.Pro1251=)
|
|
|
NM_001113378.2(FANCI):c.3756C>T (p.Asn1252=)
|
|
|
NM_001113378.2(FANCI):c.3759C>G (p.Leu1253=)
|
|
|
NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro)
|
|
|
NM_001113378.2(FANCI):c.3777G>A (p.Gln1259=)
|
|
|
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter)
|
rs1060501900
|
|
NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe)
|
|
|
NM_001113378.2(FANCI):c.3795C>A (p.Ile1265=)
|
|
|
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr)
|
rs2152017364
|
|
NM_001113378.2(FANCI):c.379T>G (p.Leu127Val)
|
|
|
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)
|
rs2152017390
|
|
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
|
|
|
NM_001113378.2(FANCI):c.3816+10C>T
|
|
|
NM_001113378.2(FANCI):c.3816+12_3816+13del
|
|
|
NM_001113378.2(FANCI):c.3816+16T>C
|
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
NM_001113378.2(FANCI):c.3816+18A>T
|
|
|
NM_001113378.2(FANCI):c.3817-10C>T
|
|
|
NM_001113378.2(FANCI):c.3817-11T>C
|
|
|
NM_001113378.2(FANCI):c.3817-13A>C
|
|
|
NM_001113378.2(FANCI):c.3817-13A>G
|
|
|
NM_001113378.2(FANCI):c.3817-14C>A
|
|
|
NM_001113378.2(FANCI):c.3817-18C>T
|
|
|
NM_001113378.2(FANCI):c.3817-8T>C
|
|
|
NM_001113378.2(FANCI):c.3817-8T>G
|
|
|
NM_001113378.2(FANCI):c.3817-9T>C
|
|
|
NM_001113378.2(FANCI):c.3819G>C (p.Val1273=)
|
|
|
NM_001113378.2(FANCI):c.3822C>T (p.Asn1274=)
|
|
|
NM_001113378.2(FANCI):c.3828G>A (p.Met1276Ile)
|
rs745401006
|
|
NM_001113378.2(FANCI):c.3830A>G (p.Gln1277Arg)
|
rs2152030610
|
|
NM_001113378.2(FANCI):c.3831G>A (p.Gln1277=)
|
|
|
NM_001113378.2(FANCI):c.3836T>C (p.Met1279Thr)
|
|
|
NM_001113378.2(FANCI):c.3840G>A (p.Lys1280=)
|
|
|
NM_001113378.2(FANCI):c.3848C>G (p.Thr1283Ser)
|
rs2055184928
|
|
NM_001113378.2(FANCI):c.3848C>T (p.Thr1283Ile)
|
rs2055184928
|
|
NM_001113378.2(FANCI):c.3849C>T (p.Thr1283=)
|
|
|
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
|
|
|
NM_001113378.2(FANCI):c.384G>A (p.Glu128=)
|
|
|
NM_001113378.2(FANCI):c.3864G>A (p.Lys1288=)
|
rs2152030838
|
|
NM_001113378.2(FANCI):c.3864_3869del (p.Ile1289_Lys1290del)
|
rs2152030819
|
|
NM_001113378.2(FANCI):c.3872G>C (p.Gly1291Ala)
|
|
|
NM_001113378.2(FANCI):c.3875A>G (p.Asn1292Ser)
|
rs2055185392
|
|
NM_001113378.2(FANCI):c.3880C>T (p.Leu1294=)
|
|
|
NM_001113378.2(FANCI):c.3882A>G (p.Leu1294=)
|
|
|
NM_001113378.2(FANCI):c.3886A>T (p.Met1296Leu)
|
|
|
NM_001113378.2(FANCI):c.3887T>C (p.Met1296Thr)
|
|
|
NM_001113378.2(FANCI):c.3888G>A (p.Met1296Ile)
|
rs777500700
|
|
NM_001113378.2(FANCI):c.388C>T (p.Leu130=)
|
|
|
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile)
|
rs150076848
|
|
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln)
|
rs138663330
|
|
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
|
|
|
NM_001113378.2(FANCI):c.3908A>G (p.Glu1303Gly)
|
rs1596343025
|
|
NM_001113378.2(FANCI):c.390A>G (p.Leu130=)
|
|
|
NM_001113378.2(FANCI):c.3918T>C (p.Asn1306=)
|
rs561190476
|
|
NM_001113378.2(FANCI):c.3921A>G (p.Glu1307=)
|
|
|
NM_001113378.2(FANCI):c.3924+12C>A
|
|
|
NM_001113378.2(FANCI):c.3924+12C>T
|
|
|
NM_001113378.2(FANCI):c.3924+15_3924+16del
|
|
|
NM_001113378.2(FANCI):c.3924+16T>C
|
|
|
NM_001113378.2(FANCI):c.3924+17G>A
|
|
|
NM_001113378.2(FANCI):c.3924+19C>T
|
|
|
NM_001113378.2(FANCI):c.3924+1G>A
|
rs864622739
|
|
NM_001113378.2(FANCI):c.3924+1G>T
|
|
|
NM_001113378.2(FANCI):c.3924+20T>C
|
|
|
NM_001113378.2(FANCI):c.3924+8C>T
|
rs2055187470
|
|
NM_001113378.2(FANCI):c.393T>G (p.Pro131=)
|
|
|
NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr)
|
rs2052049943
|
|
NM_001113378.2(FANCI):c.429T>A (p.Asn143Lys)
|
rs2052718668
|
|
NM_001113378.2(FANCI):c.437A>G (p.Tyr146Cys)
|
|
|
NM_001113378.2(FANCI):c.438T>C (p.Tyr146=)
|
|
|
NM_001113378.2(FANCI):c.441A>G (p.Gly147=)
|
|
|
NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg)
|
rs1282962332
|
|
NM_001113378.2(FANCI):c.445+11T>G
|
|
|
NM_001113378.2(FANCI):c.445+12C>T
|
|
|
NM_001113378.2(FANCI):c.445+13C>A
|
|
|
NM_001113378.2(FANCI):c.445+15A>T
|
|
|
NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser)
|
rs763494935
|
|
NM_001113378.2(FANCI):c.446-10G>A
|
|
|
NM_001113378.2(FANCI):c.446-17A>G
|
rs768395269
|
|
NM_001113378.2(FANCI):c.446-20A>G
|
|
|
NM_001113378.2(FANCI):c.446-2A>G
|
|
|
NM_001113378.2(FANCI):c.446-4C>A
|
rs1178021756
|
|
NM_001113378.2(FANCI):c.446-7T>C
|
|
|
NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu)
|
rs765811874
|
|
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys)
|
rs766640605
|
|
NM_001113378.2(FANCI):c.466T>C (p.Cys156Arg)
|
|
|
NM_001113378.2(FANCI):c.473A>T (p.Lys158Ile)
|
|
|
NM_001113378.2(FANCI):c.474dup (p.Gln159fs)
|
|
|
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
|
|
|
NM_001113378.2(FANCI):c.477G>T (p.Gln159His)
|
|
|
NM_001113378.2(FANCI):c.483T>A (p.Ile161=)
|
|
|
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
|
|
|
NM_001113378.2(FANCI):c.489C>G (p.Thr163=)
|
|
|
NM_001113378.2(FANCI):c.490C>T (p.Leu164=)
|
|
|
NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr)
|
rs2151054381
|
|
NM_001113378.2(FANCI):c.501C>G (p.Gly167=)
|
|
|
NM_001113378.2(FANCI):c.501C>T (p.Gly167=)
|
rs2151271104
|
|
NM_001113378.2(FANCI):c.503+19T>G
|
|
|
NM_001113378.2(FANCI):c.503+6T>G
|
|
|
NM_001113378.2(FANCI):c.504-10C>A
|
|
|
NM_001113378.2(FANCI):c.504-10C>T
|
|
|
NM_001113378.2(FANCI):c.504-12T>C
|
|
|
NM_001113378.2(FANCI):c.504-15A>G
|
|
|
NM_001113378.2(FANCI):c.504-16C>T
|
rs1293392490
|
|
NM_001113378.2(FANCI):c.504-2A>G
|
|
|
NM_001113378.2(FANCI):c.504-5A>G
|
|
|
NM_001113378.2(FANCI):c.504-7C>T
|
|
|
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter)
|
rs878854181
|
|
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
|
|
|
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val)
|
rs1328734606
|
|
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
|
|
|
NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg)
|
rs775891592
|
|
NM_001113378.2(FANCI):c.516A>G (p.Gln172=)
|
|
|
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His)
|
rs2151291390
|
|
NM_001113378.2(FANCI):c.519T>C (p.Tyr173=)
|
rs1392387292
|
|
NM_001113378.2(FANCI):c.51G>T (p.Leu17=)
|
|
|
NM_001113378.2(FANCI):c.531C>G (p.Leu177=)
|
|
|
NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)
|
|
|
NM_001113378.2(FANCI):c.542_545+57del
|
|
|
NM_001113378.2(FANCI):c.545+12C>G
|
rs2052802070
|
|
NM_001113378.2(FANCI):c.545+16del
|
|
|
NM_001113378.2(FANCI):c.545+17C>T
|
|
|
NM_001113378.2(FANCI):c.545+18C>T
|
|
|
NM_001113378.2(FANCI):c.545+7A>G
|
rs1439143383
|
|
NM_001113378.2(FANCI):c.545+9C>T
|
|
|
NM_001113378.2(FANCI):c.546-18A>G
|
rs2151297022
|
|
NM_001113378.2(FANCI):c.546-4A>G
|
|
|
NM_001113378.2(FANCI):c.548A>T (p.Asp183Val)
|
|
|
NM_001113378.2(FANCI):c.553C>T (p.Pro185Ser)
|
|
|
NM_001113378.2(FANCI):c.555T>C (p.Pro185=)
|
|
|
NM_001113378.2(FANCI):c.558G>C (p.Leu186=)
|
rs746658213
|
|
NM_001113378.2(FANCI):c.560C>G (p.Thr187Ser)
|
|
|
NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu)
|
rs2052827709
|
|
NM_001113378.2(FANCI):c.564A>G (p.Ala188=)
|
rs1376947158
|
|
NM_001113378.2(FANCI):c.565G>A (p.Glu189Lys)
|
rs2052827867
|
|
NM_001113378.2(FANCI):c.565G>C (p.Glu189Gln)
|
|
|
NM_001113378.2(FANCI):c.568G>C (p.Glu190Gln)
|
|
|
NM_001113378.2(FANCI):c.573G>A (p.Val191=)
|
|
|
NM_001113378.2(FANCI):c.574G>C (p.Glu192Gln)
|
|
|
NM_001113378.2(FANCI):c.576A>G (p.Glu192=)
|
|
|
NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala)
|
|
|
NM_001113378.2(FANCI):c.594A>G (p.Ala198=)
|
|
|
NM_001113378.2(FANCI):c.599G>T (p.Ser200Ile)
|
|
|
NM_001113378.2(FANCI):c.603G>A (p.Met201Ile)
|
|
|
NM_001113378.2(FANCI):c.609C>A (p.Ser203=)
|
|
|
NM_001113378.2(FANCI):c.615G>C (p.Met205Ile)
|
|
|
NM_001113378.2(FANCI):c.620T>A (p.Leu207His)
|
|
|
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg)
|
rs368033980
|
|
NM_001113378.2(FANCI):c.624A>G (p.Gln208=)
|
|
|
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
|
|
|
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
|
|
|
NM_001113378.2(FANCI):c.634C>T (p.Pro212Ser)
|
rs2151297988
|
|
NM_001113378.2(FANCI):c.642C>G (p.Val214=)
|
rs2052830189
|
|
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe)
|
rs2052830473
|
|
NM_001113378.2(FANCI):c.651T>G (p.Leu217=)
|
|
|
NM_001113378.2(FANCI):c.654G>A (p.Leu218=)
|
|
|
NM_001113378.2(FANCI):c.660C>G (p.Leu220=)
|
|
|
NM_001113378.2(FANCI):c.669+15T>C
|
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
NM_001113378.2(FANCI):c.669+18T>C
|
|
|
NM_001113378.2(FANCI):c.669+7A>G
|
|
|
NM_001113378.2(FANCI):c.670-11A>G
|
|
|
NM_001113378.2(FANCI):c.670-13G>A
|
|
|
NM_001113378.2(FANCI):c.670-17T>C
|
|
|
NM_001113378.2(FANCI):c.670-18A>G
|
|
|
NM_001113378.2(FANCI):c.670-8_670-6del
|
rs747690719
|
|
NM_001113378.2(FANCI):c.688T>G (p.Leu230Val)
|
rs2151304688
|
|
NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)
|
|
|
NM_001113378.2(FANCI):c.690G>A (p.Leu230=)
|
|
|
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
|
rs2052856419
|
|
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val)
|
rs757102747
|
|
NM_001113378.2(FANCI):c.69C>T (p.Thr23=)
|
|
|
NM_001113378.2(FANCI):c.706T>C (p.Phe236Leu)
|
rs1356319036
|
|
NM_001113378.2(FANCI):c.706_707delinsGC (p.Phe236Ala)
|
rs2151304891
|
|
NM_001113378.2(FANCI):c.70C>T (p.Leu24=)
|
|
|
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
|
|
|
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
|
|
|
NM_001113378.2(FANCI):c.741A>G (p.Glu247=)
|
rs2151305242
|
|
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn)
|
rs2052858701
|
|
NM_001113378.2(FANCI):c.754G>C (p.Glu252Gln)
|
|
|
NM_001113378.2(FANCI):c.755+13G>A
|
|
|
NM_001113378.2(FANCI):c.755+14T>C
|
|
|
NM_001113378.2(FANCI):c.755+16T>C
|
|
|
NM_001113378.2(FANCI):c.755+20A>T
|
|
|
NM_001113378.2(FANCI):c.755+3G>A
|
rs2151305411
|
|
NM_001113378.2(FANCI):c.756-15T>C
|
|
|
NM_001113378.2(FANCI):c.756-4T>G
|
rs1332788738
|
|
NM_001113378.2(FANCI):c.756-6T>C
|
|
|
NM_001113378.2(FANCI):c.756-7C>A
|
|
|
NM_001113378.2(FANCI):c.756-8T>C
|
|
|
NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile)
|
|
|
NM_001113378.2(FANCI):c.760T>C (p.Leu254=)
|
rs1567148345
|
|
NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu)
|
|
|
NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del)
|
rs1322941307
|
|
NM_001113378.2(FANCI):c.774T>G (p.Thr258=)
|
|
|
NM_001113378.2(FANCI):c.777G>A (p.Val259=)
|
|
|
NM_001113378.2(FANCI):c.777G>T (p.Val259=)
|
|
|
NM_001113378.2(FANCI):c.791T>A (p.Leu264His)
|
|
|
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala)
|
rs1005232714
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NM_001113378.2(FANCI):c.805G>A (p.Gly269Ser)
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NM_001113378.2(FANCI):c.816T>C (p.Ile272=)
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rs746104364
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NM_001113378.2(FANCI):c.819A>T (p.Leu273=)
|
rs1596258380
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NM_001113378.2(FANCI):c.822C>T (p.His274=)
|
rs2053064054
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NM_001113378.2(FANCI):c.827T>C (p.Val276Ala)
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NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
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NM_001113378.2(FANCI):c.835A>G (p.Ile279Val)
|
rs1434427258
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NM_001113378.2(FANCI):c.838A>C (p.Lys280Gln)
|
rs2053065030
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NM_001113378.2(FANCI):c.838A>G (p.Lys280Glu)
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NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly)
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rs1060501902
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NM_001113378.2(FANCI):c.84+13A>C
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NM_001113378.2(FANCI):c.84+16C>T
|
rs2052052021
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NM_001113378.2(FANCI):c.84+17A>G
|
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NM_001113378.2(FANCI):c.84+19G>A
|
rs2151055776
|
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NM_001113378.2(FANCI):c.84+2_84+3del
|
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NM_001113378.2(FANCI):c.84+6dup
|
rs1275602094
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NM_001113378.2(FANCI):c.84+7A>T
|
rs2151055602
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NM_001113378.2(FANCI):c.840A>G (p.Lys280=)
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NM_001113378.2(FANCI):c.849T>C (p.Tyr283=)
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NM_001113378.2(FANCI):c.85-10T>C
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NM_001113378.2(FANCI):c.85-13T>C
|
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NM_001113378.2(FANCI):c.85-19C>A
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NM_001113378.2(FANCI):c.85-19C>G
|
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NM_001113378.2(FANCI):c.85-1G>A
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NM_001113378.2(FANCI):c.85-1G>T
|
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|
NM_001113378.2(FANCI):c.85-22_85-15del
|
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NM_001113378.2(FANCI):c.85-2A>G
|
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NM_001113378.2(FANCI):c.85-8C>G
|
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|
NM_001113378.2(FANCI):c.85-8_85-5del
|
|
|
NM_001113378.2(FANCI):c.85-8_85-7del
|
|
|
NM_001113378.2(FANCI):c.855A>T (p.Leu285=)
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|
|
NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe)
|
|
|
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
|
rs1210148997
|
|
NM_001113378.2(FANCI):c.867C>T (p.Leu289=)
|
|
|
NM_001113378.2(FANCI):c.870G>C (p.Val290=)
|
|
|
NM_001113378.2(FANCI):c.876_879del (p.His292fs)
|
rs2053066105
|
|
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
|
|
|
NM_001113378.2(FANCI):c.879_882+14del
|
|
|
NM_001113378.2(FANCI):c.882+12C>G
|
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|
NM_001113378.2(FANCI):c.882+12C>T
|
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|
NM_001113378.2(FANCI):c.882+15G>A
|
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|
NM_001113378.2(FANCI):c.882+15G>C
|
|
|
NM_001113378.2(FANCI):c.882+16T>G
|
|
|
NM_001113378.2(FANCI):c.882+18A>G
|
|
|
NM_001113378.2(FANCI):c.882+2T>A
|
rs2053066295
|
|
NM_001113378.2(FANCI):c.882+2T>C
|
|
|
NM_001113378.2(FANCI):c.882+6A>G
|
|
|
NM_001113378.2(FANCI):c.883-11C>T
|
|
|
NM_001113378.2(FANCI):c.883-13T>C
|
|
|
NM_001113378.2(FANCI):c.883-4C>G
|
rs2053277160
|
|
NM_001113378.2(FANCI):c.883-7C>T
|
|
|
NM_001113378.2(FANCI):c.883-9C>G
|
|
|
NM_001113378.2(FANCI):c.885A>G (p.Val295=)
|
rs1159439786
|
|
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)
|
rs754986558
|
|
NM_001113378.2(FANCI):c.894A>G (p.Gln298=)
|
|
|
NM_001113378.2(FANCI):c.896G>A (p.Gly299Glu)
|
rs2053277582
|
|
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr)
|
rs1567151740
|
|
NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg)
|
|
|
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser)
|
rs2053277912
|
|
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs)
|
|
|
NM_001113378.2(FANCI):c.919_920delinsGT (p.Pro307Val)
|
rs2053278264
|
|
NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile)
|
|
|
NM_001113378.2(FANCI):c.933TCT[2] (p.Leu314del)
|
rs766563407
|
|
NM_001113378.2(FANCI):c.937C>G (p.Leu313Val)
|
|
|
NM_001113378.2(FANCI):c.938T>C (p.Leu313Pro)
|
|
|
NM_001113378.2(FANCI):c.93T>C (p.Asn31=)
|
|
|
NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys)
|
|
|
NM_001113378.2(FANCI):c.948A>T (p.Val316=)
|
rs1596268737
|
|
NM_001113378.2(FANCI):c.950C>G (p.Thr317Arg)
|
rs774051668
|
|
NM_001113378.2(FANCI):c.953G>T (p.Arg318Ile)
|
|
|
NM_001113378.2(FANCI):c.956T>C (p.Ile319Thr)
|
rs1024430096
|
|
NM_001113378.2(FANCI):c.960A>G (p.Gln320=)
|
|
|
NM_001113378.2(FANCI):c.96_98del (p.Leu33del)
|
rs747603151
|
|
NM_001113378.2(FANCI):c.970G>T (p.Asp324Tyr)
|
rs2151439651
|
|
NM_001113378.2(FANCI):c.975+10dup
|
rs751890595
|
|
NM_001113378.2(FANCI):c.975+19A>G
|
|
|
NM_001113378.2(FANCI):c.975+20T>C
|
|
|
NM_001113378.2(FANCI):c.975+23dup
|
|
|
NM_001113378.2(FANCI):c.976-13A>C
|
|
|
NM_001113378.2(FANCI):c.976-1G>T
|
|
|
NM_001113378.2(FANCI):c.976-2_977dup
|
|
|
NM_001113378.2(FANCI):c.976-9A>T
|
|
|
NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro)
|
rs2053317531
|
|
NM_001113378.2(FANCI):c.996T>G (p.Thr332=)
|
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu)
|
rs761982725
|
|
NM_001113378.2(FANCI):c.9G>C (p.Gln3His)
|
|
|