NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
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.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.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
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.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.1893A>C (p.Leu631Phe)
|
rs118138806
|
0.00053
|
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.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.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
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.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=)
|
rs567952571
|
0.00011
|
NM_001113378.2(FANCI):c.2890-13C>T
|
rs377269890
|
0.00010
|
NM_001113378.2(FANCI):c.165C>T (p.Pro55=)
|
rs139039885
|
0.00009
|
NM_001113378.2(FANCI):c.669+14A>G
|
rs369804967
|
0.00008
|
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
|
rs149008055
|
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.2023T>C (p.Leu675=)
|
rs144800324
|
0.00006
|
NM_001113378.2(FANCI):c.2292-11G>C
|
rs763570868
|
0.00006
|
NM_001113378.2(FANCI):c.2751T>C (p.Ser917=)
|
rs202135041
|
0.00006
|
NM_001113378.2(FANCI):c.2890-19G>A
|
rs758850736
|
0.00006
|
NM_001113378.2(FANCI):c.546-19T>C
|
rs111301033
|
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.1704T>C (p.His568=)
|
rs200990786
|
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.534C>T (p.Thr178=)
|
rs754733731
|
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.2097C>T (p.Tyr699=)
|
rs148415946
|
0.00004
|
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=)
|
rs139857614
|
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.3006+10C>T
|
rs753914878
|
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.445+14G>A
|
rs762378388
|
0.00004
|
NM_001113378.2(FANCI):c.883-16_883-15del
|
rs763087620
|
0.00004
|
NM_001113378.2(FANCI):c.993G>A (p.Lys331=)
|
rs146916445
|
0.00004
|
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.1699-11C>T
|
rs753750358
|
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.2349C>T (p.Asp783=)
|
rs768234660
|
0.00003
|
NM_001113378.2(FANCI):c.2803+15A>T
|
rs372343510
|
0.00003
|
NM_001113378.2(FANCI):c.2907A>C (p.Leu969Phe)
|
rs568094959
|
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.579T>C (p.Phe193=)
|
rs746361181
|
0.00003
|
NM_001113378.2(FANCI):c.595T>C (p.Leu199=)
|
rs373954813
|
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.1699-20T>C
|
rs770951736
|
0.00002
|
NM_001113378.2(FANCI):c.1716C>T (p.His572=)
|
rs750999079
|
0.00002
|
NM_001113378.2(FANCI):c.1822-7C>G
|
rs758739224
|
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.2454C>T (p.Phe818=)
|
rs747796401
|
0.00002
|
NM_001113378.2(FANCI):c.2636+20T>C
|
rs767625078
|
0.00002
|
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
|
rs746204528
|
0.00002
|
NM_001113378.2(FANCI):c.3549G>A (p.Val1183=)
|
rs774699547
|
0.00002
|
NM_001113378.2(FANCI):c.503+11T>C
|
rs749071182
|
0.00002
|
NM_001113378.2(FANCI):c.755+9T>C
|
rs369467223
|
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.1185A>C (p.Pro395=)
|
rs371838837
|
0.00001
|
NM_001113378.2(FANCI):c.1212T>C (p.Ile404=)
|
rs749893514
|
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.1479T>G (p.Leu493=)
|
rs775006497
|
0.00001
|
NM_001113378.2(FANCI):c.1513-13G>C
|
rs1451472127
|
0.00001
|
NM_001113378.2(FANCI):c.1557T>C (p.Leu519=)
|
rs138767485
|
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.1821+9G>A
|
rs1596292257
|
0.00001
|
NM_001113378.2(FANCI):c.1824G>A (p.Gly608=)
|
rs777877618
|
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.1993-7C>G
|
rs773420007
|
0.00001
|
NM_001113378.2(FANCI):c.2169+12G>A
|
rs886051512
|
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.2520C>G (p.Arg840=)
|
rs1210098933
|
0.00001
|
NM_001113378.2(FANCI):c.2577G>C (p.Val859=)
|
rs562877308
|
0.00001
|
NM_001113378.2(FANCI):c.2673A>T (p.Ser891=)
|
rs1567170286
|
0.00001
|
NM_001113378.2(FANCI):c.2721G>A (p.Leu907=)
|
rs369902896
|
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.3058+10C>G
|
rs1375877085
|
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.3186+7_3186+8insG
|
rs762412096
|
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.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.3350-11T>C
|
rs779052518
|
0.00001
|
NM_001113378.2(FANCI):c.33A>G (p.Glu11=)
|
rs878854180
|
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.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.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.3675T>C (p.Tyr1225=)
|
rs768895822
|
0.00001
|
NM_001113378.2(FANCI):c.3678G>A (p.Thr1226=)
|
rs748187517
|
0.00001
|
NM_001113378.2(FANCI):c.3801T>G (p.Leu1267=)
|
rs993279086
|
0.00001
|
NM_001113378.2(FANCI):c.3834C>T (p.His1278=)
|
rs1450412741
|
0.00001
|
NM_001113378.2(FANCI):c.3924+16T>G
|
rs1260139637
|
0.00001
|
NM_001113378.2(FANCI):c.39A>T (p.Thr13=)
|
rs201981373
|
0.00001
|
NM_001113378.2(FANCI):c.411G>A (p.Leu137=)
|
rs770909223
|
0.00001
|
NM_001113378.2(FANCI):c.417G>A (p.Thr139=)
|
rs776382823
|
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.558G>T (p.Leu186=)
|
rs746658213
|
0.00001
|
NM_001113378.2(FANCI):c.609C>T (p.Ser203=)
|
rs762005980
|
0.00001
|
NM_001113378.2(FANCI):c.669+8T>C
|
rs942269232
|
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.837C>T (p.Ile279=)
|
rs2053064958
|
0.00001
|
NM_001113378.2(FANCI):c.924C>T (p.Phe308=)
|
rs1201490769
|
0.00001
|
NM_001113378.2(FANCI):c.975+11A>T
|
rs759815521
|
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
|
NM_001113378.2(FANCI):c.1008G>A (p.Lys336=)
|
|
|
NM_001113378.2(FANCI):c.1011C>T (p.Ser337=)
|
|
|
NM_001113378.2(FANCI):c.1044A>G (p.Lys348=)
|
rs2151452858
|
|
NM_001113378.2(FANCI):c.1059A>C (p.Leu353=)
|
|
|
NM_001113378.2(FANCI):c.1074T>C (p.Ser358=)
|
|
|
NM_001113378.2(FANCI):c.1074T>G (p.Ser358=)
|
|
|
NM_001113378.2(FANCI):c.1077T>C (p.Tyr359=)
|
|
|
NM_001113378.2(FANCI):c.1101A>G (p.Val367=)
|
|
|
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.1113-20T>C
|
|
|
NM_001113378.2(FANCI):c.1119T>C (p.His373=)
|
|
|
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.1149A>G (p.Val383=)
|
|
|
NM_001113378.2(FANCI):c.114G>A (p.Val38=)
|
rs769209297
|
|
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.1182G>A (p.Gly394=)
|
|
|
NM_001113378.2(FANCI):c.1185A>G (p.Pro395=)
|
|
|
NM_001113378.2(FANCI):c.1194T>C (p.Val398=)
|
|
|
NM_001113378.2(FANCI):c.1203A>T (p.Gly401=)
|
|
|
NM_001113378.2(FANCI):c.1218C>T (p.Thr406=)
|
|
|
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.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+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.1329G>A (p.Gln443=)
|
|
|
NM_001113378.2(FANCI):c.1350C>G (p.Thr450=)
|
|
|
NM_001113378.2(FANCI):c.1365C>T (p.Pro455=)
|
rs2053499669
|
|
NM_001113378.2(FANCI):c.1381+12T>C
|
|
|
NM_001113378.2(FANCI):c.1381+12T>G
|
|
|
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.1410A>T (p.Ala470=)
|
|
|
NM_001113378.2(FANCI):c.1425A>G (p.Gln475=)
|
|
|
NM_001113378.2(FANCI):c.1428T>C (p.Ser476=)
|
|
|
NM_001113378.2(FANCI):c.1452T>C (p.Ala484=)
|
|
|
NM_001113378.2(FANCI):c.1467C>A (p.Ser489=)
|
rs267604369
|
|
NM_001113378.2(FANCI):c.1471C>T (p.Leu491=)
|
|
|
NM_001113378.2(FANCI):c.1488A>G (p.Val496=)
|
|
|
NM_001113378.2(FANCI):c.1494G>A (p.Arg498=)
|
|
|
NM_001113378.2(FANCI):c.1506A>C (p.Ala502=)
|
|
|
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+20A>C
|
|
|
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.1515C>A (p.Pro505=)
|
|
|
NM_001113378.2(FANCI):c.1560C>T (p.Val520=)
|
|
|
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+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.158-9A>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+9C>T
|
|
|
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.1584-20C>T
|
|
|
NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)
|
|
|
NM_001113378.2(FANCI):c.1617G>A (p.Gly539=)
|
rs757928977
|
|
NM_001113378.2(FANCI):c.1662A>G (p.Ser554=)
|
rs1596287918
|
|
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.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.1713T>C (p.Val571=)
|
|
|
NM_001113378.2(FANCI):c.1752C>T (p.Cys584=)
|
|
|
NM_001113378.2(FANCI):c.1761C>T (p.Ile587=)
|
|
|
NM_001113378.2(FANCI):c.1767T>C (p.Asp589=)
|
|
|
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.1797T>G (p.Ala599=)
|
|
|
NM_001113378.2(FANCI):c.180T>C (p.Ala60=)
|
rs2151252789
|
|
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.1822-6T>C
|
|
|
NM_001113378.2(FANCI):c.1822-7del
|
rs1457763718
|
|
NM_001113378.2(FANCI):c.1822-8C>G
|
|
|
NM_001113378.2(FANCI):c.1833T>C (p.Asp611=)
|
rs2151689444
|
|
NM_001113378.2(FANCI):c.183A>G (p.Gly61=)
|
|
|
NM_001113378.2(FANCI):c.1860T>C (p.Ala620=)
|
|
|
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.1908G>A (p.Glu636=)
|
|
|
NM_001113378.2(FANCI):c.1944A>G (p.Glu648=)
|
|
|
NM_001113378.2(FANCI):c.1954C>T (p.Leu652=)
|
rs1433980751
|
|
NM_001113378.2(FANCI):c.1968T>C (p.Asp656=)
|
|
|
NM_001113378.2(FANCI):c.1978C>T (p.Leu660=)
|
|
|
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.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.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.2004G>A (p.Leu668=)
|
|
|
NM_001113378.2(FANCI):c.2004G>T (p.Leu668=)
|
|
|
NM_001113378.2(FANCI):c.2019T>C (p.His673=)
|
|
|
NM_001113378.2(FANCI):c.2052C>G (p.Pro684=)
|
|
|
NM_001113378.2(FANCI):c.2076G>A (p.Glu692=)
|
|
|
NM_001113378.2(FANCI):c.207C>T (p.Tyr69=)
|
|
|
NM_001113378.2(FANCI):c.2091A>G (p.Ala697=)
|
rs1262206533
|
|
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.2116T>C (p.Leu706=)
|
|
|
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.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+9T>C
|
rs1205906508
|
|
NM_001113378.2(FANCI):c.2169+9T>G
|
|
|
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.2196C>T (p.Ser732=)
|
|
|
NM_001113378.2(FANCI):c.219C>T (p.Ile73=)
|
rs928688700
|
|
NM_001113378.2(FANCI):c.222G>A (p.Gln74=)
|
|
|
NM_001113378.2(FANCI):c.2274C>T (p.Phe758=)
|
|
|
NM_001113378.2(FANCI):c.2291+10T>C
|
|
|
NM_001113378.2(FANCI):c.2291+15T>C
|
rs2151728206
|
|
NM_001113378.2(FANCI):c.2291+20C>A
|
|
|
NM_001113378.2(FANCI):c.2292-12T>C
|
|
|
NM_001113378.2(FANCI):c.2292-17T>C
|
rs775115671
|
|
NM_001113378.2(FANCI):c.2292-18C>A
|
rs901102009
|
|
NM_001113378.2(FANCI):c.2292-20C>G
|
|
|
NM_001113378.2(FANCI):c.2292-8_2292-7insAT
|
|
|
NM_001113378.2(FANCI):c.2298T>C (p.Asn766=)
|
|
|
NM_001113378.2(FANCI):c.2307G>A (p.Glu769=)
|
|
|
NM_001113378.2(FANCI):c.2310C>T (p.Asp770=)
|
rs1169269440
|
|
NM_001113378.2(FANCI):c.2314C>T (p.Leu772=)
|
|
|
NM_001113378.2(FANCI):c.2319C>T (p.Ser773=)
|
|
|
NM_001113378.2(FANCI):c.231A>G (p.Glu77=)
|
|
|
NM_001113378.2(FANCI):c.2343C>G (p.Leu781=)
|
rs1377037041
|
|
NM_001113378.2(FANCI):c.2343C>T (p.Leu781=)
|
|
|
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.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.2390C>T (p.Ala797Val)
|
rs761136936
|
|
NM_001113378.2(FANCI):c.2400A>G (p.Thr800=)
|
|
|
NM_001113378.2(FANCI):c.241T>C (p.Leu81=)
|
|
|
NM_001113378.2(FANCI):c.2424A>G (p.Lys808=)
|
|
|
NM_001113378.2(FANCI):c.2430G>A (p.Val810=)
|
rs2151741501
|
|
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.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.2457-4C>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.2484C>T (p.Ser828=)
|
rs750041727
|
|
NM_001113378.2(FANCI):c.2496C>T (p.Leu832=)
|
|
|
NM_001113378.2(FANCI):c.24A>G (p.Leu8=)
|
|
|
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.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.2568A>G (p.Thr856=)
|
|
|
NM_001113378.2(FANCI):c.2571G>A (p.Gly857=)
|
rs2151755630
|
|
NM_001113378.2(FANCI):c.2583C>A (p.Gly861=)
|
|
|
NM_001113378.2(FANCI):c.2586T>C (p.Pro862=)
|
|
|
NM_001113378.2(FANCI):c.258G>A (p.Ala86=)
|
rs750230813
|
|
NM_001113378.2(FANCI):c.258G>T (p.Ala86=)
|
|
|
NM_001113378.2(FANCI):c.2592C>A (p.Gly864=)
|
|
|
NM_001113378.2(FANCI):c.2616G>A (p.Gln872=)
|
|
|
NM_001113378.2(FANCI):c.2619C>T (p.Asn873=)
|
|
|
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.2637-5T>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.2658T>C (p.Thr886=)
|
|
|
NM_001113378.2(FANCI):c.2658T>G (p.Thr886=)
|
|
|
NM_001113378.2(FANCI):c.2670T>C (p.Thr890=)
|
|
|
NM_001113378.2(FANCI):c.2703A>G (p.Gly901=)
|
|
|
NM_001113378.2(FANCI):c.2724C>T (p.Cys908=)
|
|
|
NM_001113378.2(FANCI):c.2727G>A (p.Leu909=)
|
|
|
NM_001113378.2(FANCI):c.2733T>C (p.Gly911=)
|
|
|
NM_001113378.2(FANCI):c.2736A>G (p.Leu912=)
|
rs768880495
|
|
NM_001113378.2(FANCI):c.2781T>A (p.Ile927=)
|
rs771106622
|
|
NM_001113378.2(FANCI):c.2793C>T (p.Leu931=)
|
|
|
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+8T>C
|
|
|
NM_001113378.2(FANCI):c.2804-19G>A
|
|
|
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.2832A>G (p.Arg944=)
|
rs79685648
|
|
NM_001113378.2(FANCI):c.283C>T (p.Leu95=)
|
|
|
NM_001113378.2(FANCI):c.2847C>T (p.Val949=)
|
|
|
NM_001113378.2(FANCI):c.2850T>C (p.Ser950=)
|
|
|
NM_001113378.2(FANCI):c.2868A>G (p.Ala956=)
|
rs2151845184
|
|
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.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.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.2890-15G>A
|
|
|
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.2937C>T (p.Ser979=)
|
|
|
NM_001113378.2(FANCI):c.2949C>A (p.Leu983=)
|
rs2151859425
|
|
NM_001113378.2(FANCI):c.294C>T (p.His98=)
|
|
|
NM_001113378.2(FANCI):c.2958C>T (p.Val986=)
|
|
|
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.2985A>G (p.Leu995=)
|
|
|
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+20A>C
|
rs1173017190
|
|
NM_001113378.2(FANCI):c.3006+7G>A
|
|
|
NM_001113378.2(FANCI):c.3007-18G>A
|
|
|
NM_001113378.2(FANCI):c.3007-9C>G
|
|
|
NM_001113378.2(FANCI):c.3024C>T (p.Ser1008=)
|
|
|
NM_001113378.2(FANCI):c.3030A>G (p.Thr1010=)
|
|
|
NM_001113378.2(FANCI):c.3036G>A (p.Lys1012=)
|
|
|
NM_001113378.2(FANCI):c.3058+10C>T
|
rs1375877085
|
|
NM_001113378.2(FANCI):c.3058+15A>G
|
|
|
NM_001113378.2(FANCI):c.3058+8T>C
|
|
|
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.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.3114G>T (p.Ser1038=)
|
rs567952571
|
|
NM_001113378.2(FANCI):c.3117T>C (p.Tyr1039=)
|
rs2151913256
|
|
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.3147G>A (p.Leu1049=)
|
|
|
NM_001113378.2(FANCI):c.3150C>T (p.Ser1050=)
|
|
|
NM_001113378.2(FANCI):c.3165G>A (p.Gly1055=)
|
rs1596324375
|
|
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=)
|
rs564447394
|
|
NM_001113378.2(FANCI):c.3183C>T (p.Asp1061=)
|
|
|
NM_001113378.2(FANCI):c.3186+10T>C
|
|
|
NM_001113378.2(FANCI):c.3186+14C>T
|
|
|
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.3195G>A (p.Glu1065=)
|
|
|
NM_001113378.2(FANCI):c.3219A>G (p.Ala1073=)
|
|
|
NM_001113378.2(FANCI):c.3231G>A (p.Leu1077=)
|
|
|
NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=)
|
rs1596324690
|
|
NM_001113378.2(FANCI):c.3237G>T (p.Thr1079=)
|
|
|
NM_001113378.2(FANCI):c.3246C>T (p.Pro1082=)
|
|
|
NM_001113378.2(FANCI):c.324A>G (p.Leu108=)
|
rs1427386763
|
|
NM_001113378.2(FANCI):c.3255+10G>A
|
|
|
NM_001113378.2(FANCI):c.3255+16G>A
|
rs2151915712
|
|
NM_001113378.2(FANCI):c.3256-17G>C
|
|
|
NM_001113378.2(FANCI):c.3256-19A>G
|
|
|
NM_001113378.2(FANCI):c.3256-9_3256-8del
|
rs752376850
|
|
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.327C>T (p.Ala109=)
|
|
|
NM_001113378.2(FANCI):c.3282G>A (p.Lys1094=)
|
|
|
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.3306A>T (p.Leu1102=)
|
|
|
NM_001113378.2(FANCI):c.3309C>T (p.Ile1103=)
|
|
|
NM_001113378.2(FANCI):c.3312C>T (p.Thr1104=)
|
|
|
NM_001113378.2(FANCI):c.3324A>G (p.Gly1108=)
|
|
|
NM_001113378.2(FANCI):c.3333C>T (p.Ser1111=)
|
|
|
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.3357C>G (p.Ala1119=)
|
|
|
NM_001113378.2(FANCI):c.336T>C (p.Phe112=)
|
|
|
NM_001113378.2(FANCI):c.3384G>A (p.Gln1128=)
|
rs988319051
|
|
NM_001113378.2(FANCI):c.3396A>G (p.Lys1132=)
|
|
|
NM_001113378.2(FANCI):c.3399T>C (p.Ala1133=)
|
|
|
NM_001113378.2(FANCI):c.3411A>G (p.Gln1137=)
|
rs781569040
|
|
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.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.3462A>G (p.Pro1154=)
|
|
|
NM_001113378.2(FANCI):c.3486G>A (p.Leu1162=)
|
|
|
NM_001113378.2(FANCI):c.3516A>G (p.Thr1172=)
|
|
|
NM_001113378.2(FANCI):c.3525C>T (p.Ala1175=)
|
rs114810692
|
|
NM_001113378.2(FANCI):c.3528T>C (p.Leu1176=)
|
|
|
NM_001113378.2(FANCI):c.3531C>A (p.Val1177=)
|
|
|
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.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.3538-6T>A
|
|
|
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.3561C>A (p.Ser1187=)
|
|
|
NM_001113378.2(FANCI):c.3570T>A (p.Ile1190=)
|
|
|
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+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.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.3630T>C (p.Tyr1210=)
|
|
|
NM_001113378.2(FANCI):c.3636C>T (p.Phe1212=)
|
|
|
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.3651+12A>G
|
|
|
NM_001113378.2(FANCI):c.3651+14A>G
|
|
|
NM_001113378.2(FANCI):c.3651+18A>C
|
|
|
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.3652-70_3652-69del
|
rs11321073
|
|
NM_001113378.2(FANCI):c.3654T>C (p.Asn1218=)
|
|
|
NM_001113378.2(FANCI):c.3669G>C (p.Leu1223=)
|
|
|
NM_001113378.2(FANCI):c.366G>A (p.Val122=)
|
|
|
NM_001113378.2(FANCI):c.3678G>C (p.Thr1226=)
|
rs748187517
|
|
NM_001113378.2(FANCI):c.3696A>G (p.Lys1232=)
|
|
|
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.372A>G (p.Gly124=)
|
rs2151268209
|
|
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.3777G>A (p.Gln1259=)
|
|
|
NM_001113378.2(FANCI):c.3795C>A (p.Ile1265=)
|
|
|
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+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.3831G>A (p.Gln1277=)
|
|
|
NM_001113378.2(FANCI):c.3840G>A (p.Lys1280=)
|
|
|
NM_001113378.2(FANCI):c.3849C>T (p.Thr1283=)
|
|
|
NM_001113378.2(FANCI):c.384G>A (p.Glu128=)
|
|
|
NM_001113378.2(FANCI):c.3864G>A (p.Lys1288=)
|
rs2152030838
|
|
NM_001113378.2(FANCI):c.3880C>T (p.Leu1294=)
|
|
|
NM_001113378.2(FANCI):c.3882A>G (p.Leu1294=)
|
|
|
NM_001113378.2(FANCI):c.388C>T (p.Leu130=)
|
|
|
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+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.438T>C (p.Tyr146=)
|
|
|
NM_001113378.2(FANCI):c.441A>G (p.Gly147=)
|
|
|
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.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.446-4C>A
|
rs1178021756
|
|
NM_001113378.2(FANCI):c.446-7T>C
|
|
|
NM_001113378.2(FANCI):c.483T>A (p.Ile161=)
|
|
|
NM_001113378.2(FANCI):c.489C>G (p.Thr163=)
|
|
|
NM_001113378.2(FANCI):c.490C>T (p.Leu164=)
|
|
|
NM_001113378.2(FANCI):c.501C>G (p.Gly167=)
|
|
|
NM_001113378.2(FANCI):c.503+19T>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.504-5A>G
|
|
|
NM_001113378.2(FANCI):c.504-7C>T
|
|
|
NM_001113378.2(FANCI):c.516A>G (p.Gln172=)
|
|
|
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.545+12C>G
|
rs2052802070
|
|
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.555T>C (p.Pro185=)
|
|
|
NM_001113378.2(FANCI):c.558G>C (p.Leu186=)
|
rs746658213
|
|
NM_001113378.2(FANCI):c.564A>G (p.Ala188=)
|
rs1376947158
|
|
NM_001113378.2(FANCI):c.573G>A (p.Val191=)
|
|
|
NM_001113378.2(FANCI):c.576A>G (p.Glu192=)
|
|
|
NM_001113378.2(FANCI):c.594A>G (p.Ala198=)
|
|
|
NM_001113378.2(FANCI):c.609C>A (p.Ser203=)
|
|
|
NM_001113378.2(FANCI):c.624A>G (p.Gln208=)
|
|
|
NM_001113378.2(FANCI):c.642C>G (p.Val214=)
|
rs2052830189
|
|
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.690G>A (p.Leu230=)
|
|
|
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
|
rs2052856419
|
|
NM_001113378.2(FANCI):c.69C>T (p.Thr23=)
|
|
|
NM_001113378.2(FANCI):c.70C>T (p.Leu24=)
|
|
|
NM_001113378.2(FANCI):c.741A>G (p.Glu247=)
|
rs2151305242
|
|
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.756-15T>C
|
|
|
NM_001113378.2(FANCI):c.756-4T>G
|
rs1332788738
|
|
NM_001113378.2(FANCI):c.756-8T>C
|
|
|
NM_001113378.2(FANCI):c.760T>C (p.Leu254=)
|
rs1567148345
|
|
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.816T>C (p.Ile272=)
|
rs746104364
|
|
NM_001113378.2(FANCI):c.819A>T (p.Leu273=)
|
rs1596258380
|
|
NM_001113378.2(FANCI):c.822C>T (p.His274=)
|
rs2053064054
|
|
NM_001113378.2(FANCI):c.84+13A>C
|
|
|
NM_001113378.2(FANCI):c.84+16C>T
|
rs2052052021
|
|
NM_001113378.2(FANCI):c.84+17A>G
|
|
|
NM_001113378.2(FANCI):c.84+19G>A
|
rs2151055776
|
|
NM_001113378.2(FANCI):c.84+6dup
|
rs1275602094
|
|
NM_001113378.2(FANCI):c.84+7A>T
|
rs2151055602
|
|
NM_001113378.2(FANCI):c.840A>G (p.Lys280=)
|
|
|
NM_001113378.2(FANCI):c.849T>C (p.Tyr283=)
|
|
|
NM_001113378.2(FANCI):c.85-10T>C
|
|
|
NM_001113378.2(FANCI):c.85-13T>C
|
|
|
NM_001113378.2(FANCI):c.85-19C>A
|
|
|
NM_001113378.2(FANCI):c.85-19C>G
|
|
|
NM_001113378.2(FANCI):c.85-22_85-15del
|
|
|
NM_001113378.2(FANCI):c.85-8C>G
|
|
|
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=)
|
|
|
NM_001113378.2(FANCI):c.867C>T (p.Leu289=)
|
|
|
NM_001113378.2(FANCI):c.870G>C (p.Val290=)
|
|
|
NM_001113378.2(FANCI):c.882+12C>G
|
|
|
NM_001113378.2(FANCI):c.882+12C>T
|
|
|
NM_001113378.2(FANCI):c.882+15G>A
|
|
|
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.883-11C>T
|
|
|
NM_001113378.2(FANCI):c.883-13T>C
|
|
|
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.894A>G (p.Gln298=)
|
|
|
NM_001113378.2(FANCI):c.93T>C (p.Asn31=)
|
|
|
NM_001113378.2(FANCI):c.960A>G (p.Gln320=)
|
|
|
NM_001113378.2(FANCI):c.975+19A>G
|
|
|
NM_001113378.2(FANCI):c.975+20T>C
|
|
|
NM_001113378.2(FANCI):c.976-13A>C
|
|
|
NM_001113378.2(FANCI):c.976-9A>T
|
|
|
NM_001113378.2(FANCI):c.996T>G (p.Thr332=)
|
|
|