NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000136.3(FANCC):c.355_358del (p.Ser119fs)
|
rs750003253
|
0.00019
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)
|
rs140404896
|
0.00011
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)
|
rs368728266
|
0.00009
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_001018115.3(FANCD2):c.990-1G>A
|
rs112832879
|
0.00005
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
NM_020937.4(FANCM):c.1491dup (p.Gln498fs)
|
rs797045116
|
0.00005
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)
|
rs766567785
|
0.00004
|
NM_004629.2(FANCG):c.832dup (p.Ala278fs)
|
rs1290655946
|
0.00004
|
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter)
|
rs773014744
|
0.00004
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
NM_000135.4(FANCA):c.3828+1G>C
|
rs1432988639
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)
|
rs751954386
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)
|
rs773159223
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
NM_004629.2(FANCG):c.1077-2A>G
|
rs769547477
|
0.00002
|
NM_004629.2(FANCG):c.1144-1G>T
|
rs755363896
|
0.00002
|
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter)
|
rs776122485
|
0.00002
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)
|
rs779834525
|
0.00002
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter)
|
rs1011870043
|
0.00002
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_058216.3(RAD51C):c.837+1G>A
|
rs760235677
|
0.00002
|
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)
|
rs772858764
|
0.00001
|
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
|
rs755018069
|
0.00001
|
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)
|
rs769718381
|
0.00001
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
|
rs779745863
|
0.00001
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
NM_000135.4(FANCA):c.184del (p.Glu63fs)
|
rs1260966020
|
0.00001
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)
|
rs762804216
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
|
rs779480428
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3813dup (p.His1272fs)
|
rs1555534521
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)
|
rs747892390
|
0.00001
|
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
|
rs745688750
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.793-3C>G
|
rs749688050
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000136.3(FANCC):c.108_109dup (p.His37fs)
|
rs1057517131
|
0.00001
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)
|
rs867319477
|
0.00001
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)
|
rs1831179586
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000136.3(FANCC):c.916_917del (p.Asp306fs)
|
rs779806106
|
0.00001
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)
|
rs764507146
|
0.00001
|
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)
|
rs775517107
|
0.00001
|
NM_001018115.3(FANCD2):c.3888+2T>G
|
rs1419879344
|
0.00001
|
NM_001018115.3(FANCD2):c.696-1G>A
|
rs954555240
|
0.00001
|
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)
|
rs374328858
|
0.00001
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00001
|
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)
|
rs1347292940
|
0.00001
|
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)
|
rs551399966
|
0.00001
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)
|
rs748000458
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter)
|
rs1303324683
|
0.00001
|
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs)
|
rs756691827
|
0.00001
|
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)
|
rs771312042
|
0.00001
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)
|
rs121434425
|
0.00001
|
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter)
|
rs1209807088
|
0.00001
|
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)
|
rs149721361
|
0.00001
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)
|
rs762738968
|
0.00001
|
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)
|
rs397509404
|
0.00001
|
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)
|
rs2020959
|
0.00001
|
NM_018062.4(FANCL):c.1A>T (p.Met1Leu)
|
rs772037896
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)
|
rs1191111879
|
0.00001
|
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter)
|
rs1156577591
|
0.00001
|
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter)
|
rs1034818403
|
0.00001
|
NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter)
|
rs140760056
|
0.00001
|
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)
|
rs374626826
|
0.00001
|
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter)
|
rs903442271
|
0.00001
|
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter)
|
rs1383262366
|
0.00001
|
NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs)
|
rs1888623566
|
0.00001
|
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs)
|
rs757391108
|
0.00001
|
NM_020937.4(FANCM):c.4003_4004insG (p.Lys1335fs)
|
rs1566766719
|
0.00001
|
NM_020937.4(FANCM):c.4401del (p.Ser1468fs)
|
rs1405059699
|
0.00001
|
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs)
|
rs758498345
|
0.00001
|
NM_020937.4(FANCM):c.5530del (p.Gln1844fs)
|
rs778451008
|
0.00001
|
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter)
|
rs1379375089
|
0.00001
|
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter)
|
rs1209536013
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)
|
rs121434505
|
0.00001
|
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)
|
rs760150539
|
0.00001
|
NM_022725.4(FANCF):c.2T>G (p.Met1Arg)
|
rs745495865
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs)
|
rs2061477722
|
0.00001
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)
|
rs760126773
|
0.00001
|
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)
|
rs1267428175
|
0.00001
|
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
|
rs200715208
|
0.00001
|
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs)
|
rs767631456
|
0.00001
|
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)
|
rs763914156
|
0.00001
|
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)
|
rs1291935778
|
0.00001
|
NM_032444.4(SLX4):c.860del (p.Ser287fs)
|
rs752720263
|
0.00001
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)
|
rs1060502588
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_058216.3(RAD51C):c.905-2del
|
rs876658652
|
0.00001
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)
|
rs587781287
|
0.00001
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
NC_000001.10:g.(?_24021140)_(24022863_?)del
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|
NC_000001.10:g.(?_93297672)_(93307422_?)del
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NC_000001.11:g.(?_23691814)_(23696383_?)del
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NC_000001.11:g.(?_23691824)_(23696373_?)del
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NC_000001.11:g.(?_23695788)_(23696383_?)del
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NC_000001.11:g.(?_92832109)_(92833666_?)del
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NC_000002.11:g.(?_58386900)_(58459267_?)del
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NC_000002.11:g.(?_58425719)_(58433394_?)del
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|
NC_000002.11:g.(?_58459169)_(58468448_?)del
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|
NC_000002.11:g.(?_58468333)_(58468448_?)del
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|
NC_000002.12:g.(?_58159755)_(58241323_?)del
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|
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
|
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|
NC_000002.12:g.58232113del
|
|
|
NC_000003.11:g.(?_10070342)_(10074666_?)del
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|
NC_000003.11:g.(?_10070342)_(10094191_?)del
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|
NC_000003.11:g.(?_10070342)_(10140634_?)del
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|
NC_000003.11:g.(?_10070342)_(10191719_?)del
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NC_000003.11:g.(?_10074510)_(10085282_?)del
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|
NC_000003.11:g.(?_10080953)_(10085558_?)del
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NC_000003.11:g.(?_10105466)_(10107188_?)del
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|
NC_000003.11:g.(?_10108063)_(10114567_?)del
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NC_000003.11:g.(?_10127476)_(10136978_?)del
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NC_000003.11:g.(?_10130113)_(10133956_?)del
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|
NC_000003.12:g.(?_10028648)_(10043874_?)del
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NC_000003.12:g.(?_10028648)_(10046733_?)del
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NC_000003.12:g.(?_10064723)_(10146642_?)del
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|
NC_000003.12:g.(?_197950958)_(197955783_?)del
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NC_000003.12:g.(?_197950962)_(197955779_?)del
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NC_000009.11:g.(?_97861619)_(97869538_?)del
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|
NC_000009.11:g.(?_97863979)_(97934439_?)del
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NC_000009.11:g.(?_97873735)_(97897794_?)del
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NC_000009.11:g.(?_97876901)_(97879682_?)del
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NC_000009.11:g.(?_97897618)_(97912379_?)del
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NC_000009.11:g.(?_98002921)_(98011661_?)del
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NC_000009.11:g.(?_98009704)_(98009808_?)del
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NC_000009.12:g.(?_35076714)_(35077111_?)del
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NC_000009.12:g.(?_95101700)_(95508367_?)del
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NC_000009.12:g.(?_95114619)_(95114720_?)del
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NC_000009.12:g.(?_95135336)_(95135512_?)del
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NC_000009.12:g.(?_95135336)_(95249379_?)del
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NC_000009.12:g.(?_95149913)_(95172157_?)del
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NC_000009.12:g.(?_95240639)_(95240753_?)del
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NC_000009.12:g.35079242del
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NC_000010.11:g.(?_78033902)_(78033914_?)del
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NC_000012.11:g.(?_56396006)_(56437938_?)del
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NC_000014.8:g.(?_44820816)_(45645917_?)del
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NC_000014.8:g.(?_45605235)_(45609922_?)del
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NC_000014.8:g.(?_45618030)_(45646189_?)del
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NC_000014.8:g.(?_45636143)_(45665760_?)del
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NC_000014.8:g.(?_45639782)_(45669211_?)del
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NC_000014.8:g.(?_45642248)_(45669211_?)del
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NC_000014.9:g.(?_45136032)_(45200008_?)del
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NC_000014.9:g.(?_45166940)_(45167173_?)del
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NC_000015.10:g.(?_89247629)_(89317131_?)del
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NC_000015.9:g.(?_89790873)_(89876991_?)del
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NC_000015.9:g.(?_89801915)_(89802027_?)del
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NC_000015.9:g.(?_89858493)_(89860078_?)del
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NC_000016.10:g.(?_13920156)_(13948357_?)del
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NC_000016.10:g.(?_13928022)_(13928241_?)del
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NC_000016.10:g.(?_3606464)_(3608974_?)del
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NC_000016.10:g.(?_3608430)_(3609566_?)del
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NC_000016.10:g.(?_89738591)_(89742948_?)del
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NC_000016.10:g.(?_89738591)_(89762032_?)del
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NC_000016.10:g.(?_89738591)_(89816625_?)del
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NC_000016.10:g.(?_89738591)_(89920222_?)del
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NC_000016.10:g.(?_89748641)_(89758720_?)del
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NC_000016.10:g.(?_89748641)_(89765076_?)del
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NC_000016.10:g.(?_89748649)_(89758715_?)del
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NC_000016.10:g.(?_89748649)_(89765076_?)del
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NC_000016.10:g.(?_89752128)_(89792557_?)del
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NC_000016.10:g.(?_89752128)_(89808377_?)del
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NC_000016.10:g.(?_89752128)_(89816625_?)del
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NC_000016.10:g.(?_89752138)_(89792547_?)del
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NC_000016.10:g.(?_89758567)_(89784974_?)del
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NC_000016.10:g.(?_89758567)_(89808377_?)del
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NC_000016.10:g.(?_89758571)_(89784970_?)del
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NC_000016.10:g.(?_89761939)_(89765076_?)del
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NC_000016.10:g.(?_89761939)_(89816616_?)del
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NC_000016.10:g.(?_89761943)_(89920218_?)del
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NC_000016.10:g.(?_89764807)_(89775825_?)del
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NC_000016.10:g.(?_89764807)_(89805402_?)del
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NC_000016.10:g.(?_89764880)_(89773394_?)del
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NC_000016.10:g.(?_89767131)_(89784974_?)del
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NC_000016.10:g.(?_89767131)_(89799648_?)del
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NC_000016.10:g.(?_89767135)_(89816621_?)del
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NC_000016.10:g.(?_89775736)_(89775821_?)del
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NC_000016.10:g.(?_89778791)_(89779967_?)del
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NC_000016.10:g.(?_89778791)_(89816625_?)del
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NC_000016.10:g.(?_89782849)_(89796028_?)del
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NC_000016.10:g.(?_89782853)_(89784970_?)del
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NC_000016.10:g.(?_89784844)_(89784974_?)del
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NC_000016.10:g.(?_89791393)_(89796028_?)del
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NC_000016.10:g.(?_89791393)_(89811081_?)del
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NC_000016.10:g.(?_89791397)_(89792553_?)del
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NC_000016.10:g.(?_89791402)_(89816615_?)del
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NC_000016.10:g.(?_89791403)_(89796018_?)del
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NC_000016.10:g.(?_89798246)_(89799648_?)del
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NC_000016.10:g.(?_89799156)_(89799648_?)del
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NC_000016.10:g.(?_89803249)_(89808377_?)del
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NC_000016.10:g.(?_89803249)_(89811081_?)del
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NC_000016.10:g.(?_89808284)_(89816616_?)del
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NC_000016.10:g.(?_89808284)_(89816625_?)del
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NC_000016.10:g.(?_89810697)_(89816616_?)del
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NC_000016.10:g.(?_89810701)_(89816621_?)del
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NC_000016.10:g.(?_89814510)_(89816625_?)del
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NC_000016.10:g.(?_89814514)_(89816621_?)del
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NC_000016.10:g.(?_89815867)_(89816625_?)del
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NC_000016.10:g.89746689dup
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NC_000016.9:g.(?_14020398)_(14022112_?)del
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NC_000016.9:g.(?_14038570)_(14038702_?)del
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NC_000016.9:g.(?_3632343)_(3633531_?)del
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NC_000016.9:g.(?_3632343)_(3658965_?)del
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NC_000016.9:g.(?_3634760)_(3634882_?)del
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NC_000016.9:g.(?_3658425)_(3658971_?)del
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NC_000016.9:g.(?_89712474)_(89866066_?)del
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NC_000016.9:g.(?_89804999)_(89825128_?)del
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NC_000016.9:g.(?_89804999)_(89874785_?)del
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NC_000016.9:g.(?_89805009)_(89806517_?)del
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NC_000016.9:g.(?_89805009)_(89825123_?)del
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NC_000016.9:g.(?_89805009)_(89833665_?)del
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NC_000016.9:g.(?_89805009)_(89851382_?)del
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NC_000016.9:g.(?_89805009)_(89883024_?)del
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NC_000016.9:g.(?_89807202)_(89883024_?)del
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NC_000016.9:g.(?_89809188)_(89846385_?)del
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NC_000016.9:g.(?_89809198)_(89809356_?)del
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NC_000016.9:g.(?_89809198)_(89833655_?)del
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NC_000016.9:g.(?_89809198)_(89842233_?)del
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NC_000016.9:g.(?_89811347)_(89849530_?)del
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NC_000016.9:g.(?_89811357)_(89815185_?)del
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NC_000016.9:g.(?_89811357)_(89842233_?)del
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NC_000016.9:g.(?_89815047)_(89816330_?)del
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NC_000016.9:g.(?_89815049)_(89883033_?)del
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NC_000016.9:g.(?_89816056)_(89816320_?)del
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NC_000016.9:g.(?_89816056)_(89849520_?)del
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NC_000016.9:g.(?_89818526)_(89874795_?)del
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NC_000016.9:g.(?_89818536)_(89818822_?)del
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NC_000016.9:g.(?_89818536)_(89825128_?)del
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NC_000016.9:g.(?_89818536)_(89839802_?)del
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NC_000016.9:g.(?_89818536)_(89846375_?)del
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NC_000016.9:g.(?_89818536)_(89877489_?)del
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NC_000016.9:g.(?_89824965)_(89825133_?)del
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NC_000016.9:g.(?_89824975)_(89828440_?)del
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NC_000016.9:g.(?_89824975)_(89839802_?)del
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NC_000016.9:g.(?_89824975)_(89842233_?)del
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NC_000016.9:g.(?_89824975)_(89883033_?)del
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NC_000016.9:g.(?_89825110)_(89923062_?)del
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NC_000016.9:g.(?_89828347)_(89839802_?)del
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NC_000016.9:g.(?_89828347)_(89842233_?)del
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NC_000016.9:g.(?_89828347)_(89862436_?)del
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NC_000016.9:g.(?_89828347)_(89874785_?)del
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NC_000016.9:g.(?_89831215)_(89831494_?)del
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NC_000016.9:g.(?_89831215)_(89849520_?)del
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NC_000016.9:g.(?_89831292)_(89833651_?)del
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NC_000016.9:g.(?_89833539)_(89833655_?)del
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NC_000016.9:g.(?_89833539)_(89839802_?)del
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NC_000016.9:g.(?_89833539)_(89842233_?)del
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NC_000016.9:g.(?_89833539)_(89858965_?)del
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NC_000016.9:g.(?_89833539)_(89862436_?)del
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NC_000016.9:g.(?_89836111)_(89839802_?)del
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NC_000016.9:g.(?_89836111)_(89858965_?)del
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NC_000016.9:g.(?_89836111)_(89883033_?)del
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NC_000016.9:g.(?_89836805)_(89883033_?)del
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NC_000016.9:g.(?_89836962)_(89838232_?)del
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NC_000016.9:g.(?_89838076)_(89842233_?)del
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NC_000016.9:g.(?_89838076)_(89858965_?)del
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NC_000016.9:g.(?_89838076)_(89874785_?)del
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NC_000016.9:g.(?_89838076)_(89883033_?)del
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NC_000016.9:g.(?_89839659)_(89851392_?)del
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NC_000016.9:g.(?_89839669)_(89866056_?)del
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NC_000016.9:g.(?_89842140)_(89842233_?)del
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NC_000016.9:g.(?_89842140)_(89845421_?)del
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NC_000016.9:g.(?_89842140)_(89846375_?)del
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NC_000016.9:g.(?_89842140)_(89851382_?)del
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NC_000016.9:g.(?_89842140)_(89866056_?)del
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NC_000016.9:g.(?_89845199)_(89849520_?)del
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NC_000016.9:g.(?_89845199)_(89866056_?)del
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NC_000016.9:g.(?_89845199)_(89871810_?)del
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NC_000016.9:g.(?_89845199)_(89874785_?)del
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NC_000016.9:g.(?_89846267)_(89883024_?)del
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NC_000016.9:g.(?_89849247)_(89866066_?)del
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NC_000016.9:g.(?_89849257)_(89871810_?)del
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NC_000016.9:g.(?_89849257)_(89874785_?)del
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NC_000016.9:g.(?_89857801)_(89858965_?)del
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NC_000016.9:g.(?_89857801)_(89874785_?)del
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NC_000016.9:g.(?_89862294)_(89883023_?)del
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NC_000016.9:g.(?_89862304)_(89866056_?)del
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NC_000016.9:g.(?_89862304)_(89869759_?)del
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NC_000016.9:g.(?_89864654)_(89883024_?)del
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NC_000016.9:g.(?_89864654)_(89883033_?)del
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NC_000016.9:g.(?_89869657)_(89871810_?)del
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NC_000016.9:g.(?_89871678)_(89877489_?)del
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NC_000016.9:g.(?_89874692)_(89881031_?)del
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NC_000016.9:g.(?_89877105)_(89877489_?)del
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NC_000016.9:g.(?_89880908)_(89883023_?)del
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NC_000016.9:g.(?_89880918)_(89881031_?)del
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NC_000017.10:g.(?_56769920)_(56811662_?)del
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NC_000017.10:g.(?_56769986)_(56774230_?)del
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NC_000017.10:g.(?_56769999)_(56787357_?)del
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NC_000017.10:g.(?_56772282)_(56772560_?)del
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NC_000017.10:g.(?_56774044)_(56774230_?)del
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NC_000017.10:g.(?_56780547)_(56787361_?)del
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NC_000017.10:g.(?_56780551)_(56787357_?)del
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NC_000017.10:g.(?_56787200)_(56787371_?)del
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NC_000017.10:g.(?_56798097)_(56798183_?)del
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NC_000017.10:g.(?_56798097)_(56801482_?)del
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NC_000017.10:g.(?_59760657)_(59761511_?)del
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NC_000017.10:g.(?_59760657)_(59763536_?)del
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NC_000017.10:g.(?_59760657)_(59770883_?)del
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NC_000017.10:g.(?_59760657)_(59821962_?)del
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NC_000017.10:g.(?_59760657)_(59861805_?)del
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NC_000017.10:g.(?_59760657)_(59871100_?)del
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NC_000017.10:g.(?_59760657)_(59934602_?)del
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NC_000017.10:g.(?_59770781)_(59770883_?)del
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NC_000017.10:g.(?_59770781)_(59938900_?)del
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NC_000017.10:g.(?_59820364)_(59886128_?)del
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NC_000017.10:g.(?_59853752)_(59858376_?)del
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|
|
NC_000017.10:g.(?_59857612)_(59858376_?)del
|
|
|
NC_000017.10:g.(?_59858191)_(59858864_?)del
|
|
|
NC_000017.10:g.(?_59861621)_(59861795_?)del
|
|
|
NC_000017.10:g.(?_59861718)_(59940920_?)del
|
|
|
NC_000017.10:g.(?_59870948)_(59871100_?)del
|
|
|
NC_000017.10:g.(?_59876451)_(59886128_?)del
|
|
|
NC_000017.10:g.(?_59924452)_(59938900_?)del
|
|
|
NC_000017.10:g.(?_59926480)_(59926627_?)del
|
|
|
NC_000017.10:g.(?_59926480)_(59934602_?)del
|
|
|
NC_000017.10:g.(?_59937147)_(59937278_?)del
|
|
|
NC_000017.10:g.(?_59937147)_(59938900_?)del
|
|
|
NC_000017.10:g.(?_8136214)_(8285628_?)del
|
|
|
NC_000017.11:g.(?_58692625)_(58710000_?)del
|
|
|
NC_000017.11:g.(?_58692625)_(58734222_?)del
|
|
|
NC_000017.11:g.(?_58692634)_(58692798_?)del
|
|
|
NC_000017.11:g.(?_58692634)_(58703339_?)del
|
|
|
NC_000017.11:g.(?_58692634)_(58710000_?)del
|
|
|
NC_000017.11:g.(?_58692634)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_58692638)_(58734228_?)del
|
|
|
NC_000017.11:g.(?_58696687)_(58696865_?)del
|
|
|
NC_000017.11:g.(?_58703186)_(58703339_?)del
|
|
|
NC_000017.11:g.(?_58703186)_(58734222_?)del
|
|
|
NC_000017.11:g.(?_58703186)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_58703196)_(58709990_?)del
|
|
|
NC_000017.11:g.(?_58709849)_(58734222_?)del
|
|
|
NC_000017.11:g.(?_58709849)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_58720736)_(58734222_?)del
|
|
|
NC_000017.11:g.(?_58720736)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_58720736)_(58734352_?)del
|
|
|
NC_000017.11:g.(?_58720740)_(58720818_?)del
|
|
|
NC_000017.11:g.(?_58720740)_(58724106_?)del
|
|
|
NC_000017.11:g.(?_58720746)_(58734342_?)del
|
|
|
NC_000017.11:g.(?_58732474)_(58734222_?)del
|
|
|
NC_000017.11:g.(?_58732474)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_61683286)_(61693522_?)del
|
|
|
NC_000017.11:g.(?_61683286)_(61716073_?)del
|
|
|
NC_000017.11:g.(?_61683290)_(61684146_?)del
|
|
|
NC_000017.11:g.(?_61683296)_(61716073_?)del
|
|
|
NC_000017.11:g.(?_61715941)_(61716073_?)del
|
|
|
NC_000017.11:g.(?_61715941)_(61808767_?)del
|
|
|
NC_000017.11:g.(?_61743007)_(61808763_?)del
|
|
|
NC_000017.11:g.(?_61744422)_(61744601_?)del
|
|
|
NC_000017.11:g.(?_61776391)_(61808767_?)del
|
|
|
NC_000017.11:g.(?_61776395)_(61801480_?)del
|
|
|
NC_000017.11:g.(?_61776395)_(61861545_?)del
|
|
|
NC_000017.11:g.(?_61780255)_(61781011_?)del
|
|
|
NC_000017.11:g.(?_61799090)_(61801484_?)del
|
|
|
NC_000017.11:g.(?_61847091)_(61849266_?)del
|
|
|
NC_000017.11:g.(?_61847091)_(61861549_?)del
|
|
|
NC_000017.11:g.(?_61847101)_(61849256_?)del
|
|
|
NC_000017.11:g.(?_61857048)_(61861539_?)del
|
|
|
NC_000017.11:g.(?_61857048)_(61861549_?)del
|
|
|
NC_000017.11:g.(?_61857052)_(61861545_?)del
|
|
|
NC_000017.11:g.(?_61859786)_(61861549_?)del
|
|
|
NC_000017.11:g.(?_7669603)_(8382316_?)del
|
|
|
NC_000019.9:g.(?_42363988)_(42364925_?)del
|
|
|
NC_000019.9:g.(?_42363988)_(42375445_?)del
|
|
|
NC_000019.9:g.(?_42373091)_(42375455_?)del
|
|
|
NC_000023.10:g.(?_14861689)_(14891184_?)del
|
|
|
NC_000023.10:g.(?_14875974)_(14891184_?)del
|
|
|
NC_000023.10:g.(?_48542243)_(48652571_?)del
|
|
|
NM_000135.2(FANCA):c.(?_-1)_522+?del
|
|
|
NM_000135.4(FANCA):c.-1_2del (p.Met1del)
|
rs2143732272
|
|
NM_000135.4(FANCA):c.1007-1G>A
|
|
|
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
|
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs)
|
rs2143534611
|
|
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter)
|
rs773687142
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1084-1G>A
|
rs2040094761
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
|
|
|
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
|
rs2040092520
|
|
NM_000135.4(FANCA):c.1147del (p.Glu383fs)
|
rs2040092247
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs)
|
rs2143529729
|
|
NM_000135.4(FANCA):c.118dup (p.Ala40fs)
|
rs2143724113
|
|
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
|
rs2040090995
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
|
rs2040090741
|
|
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000135.4(FANCA):c.1226-1G>C
|
rs1417768931
|
|
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
|
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)
|
rs2040074214
|
|
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
|
rs2040073991
|
|
NM_000135.4(FANCA):c.1339del (p.Ser447fs)
|
rs2143525756
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs)
|
rs2143525701
|
|
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter)
|
rs2143525603
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)
|
rs1438828232
|
|
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter)
|
rs2041098068
|
|
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
|
rs2039846326
|
|
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
|
rs1432415523
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
|
|
|
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
|
|
|
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
|
|
|
NM_000135.4(FANCA):c.1590_1591del (p.Tyr531fs)
|
rs2143459144
|
|
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter)
|
rs762342197
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
|
|
|
NM_000135.4(FANCA):c.1630dup (p.His544fs)
|
rs1598129626
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
|
|
|
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
|
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs)
|
rs2143422286
|
|
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
|
rs2039604081
|
|
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
|
rs1598127082
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter)
|
rs747994845
|
|
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
|
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.190-2A>G
|
|
|
NM_000135.4(FANCA):c.1900+1del
|
|
|
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
|
|
|
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
|
|
|
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter)
|
rs1060501878
|
|
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1del (p.Met1fs)
|
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
NM_000135.4(FANCA):c.200del (p.Pro67fs)
|
|
|
NM_000135.4(FANCA):c.2014+1del
|
rs2143366415
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)
|
rs2143351554
|
|
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
|
|
|
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs)
|
rs2143351188
|
|
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
|
rs941660593
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)
|
rs781436006
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
|
|
|
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs)
|
rs1394491958
|
|
NM_000135.4(FANCA):c.221_222del (p.Leu74fs)
|
rs2041026878
|
|
NM_000135.4(FANCA):c.2242del (p.Leu748fs)
|
rs2143336491
|
|
NM_000135.4(FANCA):c.2244del (p.Phe749fs)
|
rs2143336461
|
|
NM_000135.4(FANCA):c.2253dup (p.Thr752fs)
|
rs2143336354
|
|
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
|
|
|
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)
|
rs751572448
|
|
NM_000135.4(FANCA):c.2293del (p.Leu765fs)
|
|
|
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)
|
rs947786901
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
|
rs1336033143
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
|
|
|
NM_000135.4(FANCA):c.2482dup (p.Asp828fs)
|
rs2143331597
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2546del (p.Ser849fs)
|
rs1060501876
|
|
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter)
|
rs1406289451
|
|
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
|
rs761469030
|
|
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
|
|
|
NM_000135.4(FANCA):c.2564del (p.Thr855fs)
|
rs2143308216
|
|
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs)
|
rs1567616135
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
|
rs2039156731
|
|
NM_000135.4(FANCA):c.2602-1G>A
|
rs747823528
|
|
NM_000135.4(FANCA):c.2602-1G>T
|
rs747823528
|
|
NM_000135.4(FANCA):c.2602-2A>C
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2602-2A>T
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly)
|
rs762804216
|
|
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
|
rs2039078843
|
|
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter)
|
rs1487360770
|
|
NM_000135.4(FANCA):c.2667del (p.Ser890fs)
|
rs1555545517
|
|
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter)
|
rs2039077331
|
|
NM_000135.4(FANCA):c.2707dup (p.Trp903fs)
|
rs1225564406
|
|
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)
|
rs1354272260
|
|
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)
|
|
|
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
|
rs2039076227
|
|
NM_000135.4(FANCA):c.2717del (p.Ala906fs)
|
rs2143288542
|
|
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)
|
rs878853663
|
|
NM_000135.4(FANCA):c.2739_2740del (p.His913fs)
|
rs1186669727
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+1G>C
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.279del (p.Phe93fs)
|
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+2T>C
|
|
|
NM_000135.4(FANCA):c.283+2T>G
|
|
|
NM_000135.4(FANCA):c.283+3A>C
|
rs786204204
|
|
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
|
|
|
NM_000135.4(FANCA):c.2832dup (p.Ala945fs)
|
rs2143260759
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
NM_000135.4(FANCA):c.284-1328_705del
|
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
|
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs)
|
|
|
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
|
|
|
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter)
|
rs1192724266
|
|
NM_000135.4(FANCA):c.291_295del (p.Leu98fs)
|
|
|
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
|
|
|
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
|
|
|
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
|
rs1598191053
|
|
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
|
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
|
|
|
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.2T>G (p.Met1Arg)
|
rs769479800
|
|
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs)
|
rs2143163813
|
|
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
|
|
|
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)
|
rs2143163267
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter)
|
rs1555538740
|
|
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter)
|
rs1270910813
|
|
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs)
|
rs2143139284
|
|
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
|
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs)
|
rs2143139061
|
|
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs)
|
rs2143138748
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs)
|
|
|
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter)
|
rs373545111
|
|
NM_000135.4(FANCA):c.3169del (p.Gln1057fs)
|
rs2143138814
|
|
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
|
|
|
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
|
|
|
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
NM_000135.4(FANCA):c.319del (p.Val107fs)
|
rs1411237340
|
|
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs)
|
rs2143138138
|
|
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)
|
rs764030196
|
|
NM_000135.4(FANCA):c.3239+1G>A
|
rs2143137762
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs)
|
rs2143128346
|
|
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
|
|
|
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
|
rs1035003476
|
|
NM_000135.4(FANCA):c.3270_3271del (p.Cys1091fs)
|
rs2143128062
|
|
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)
|
rs1450151864
|
|
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
|
|
|
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
|
|
|
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
|
|
|
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
|
|
|
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter)
|
rs777825824
|
|
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.3328del (p.His1110fs)
|
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3348+2T>G
|
|
|
NM_000135.4(FANCA):c.3349-1G>C
|
|
|
NM_000135.4(FANCA):c.3349-2A>G
|
rs2038409874
|
|
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
|
|
|
NM_000135.4(FANCA):c.3397del (p.His1133fs)
|
rs758917273
|
|
NM_000135.4(FANCA):c.3398del (p.His1133fs)
|
rs2038407878
|
|
NM_000135.4(FANCA):c.339_340del (p.Ala114fs)
|
|
|
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)
|
rs786204246
|
|
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs)
|
|
|
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)
|
rs1555537347
|
|
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs)
|
rs2143106522
|
|
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs)
|
rs2143106211
|
|
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
|
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
|
|
|
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
|
rs1598067532
|
|
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)
|
rs770393751
|
|
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)
|
rs1185165443
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
|
|
|
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
|
|
|
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)
|
rs1313006784
|
|
NM_000135.4(FANCA):c.3627-1G>C
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
|
rs2062172394
|
|
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
|
rs1304878514
|
|
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer)
|
rs1567598488
|
|
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)
|
rs2062172051
|
|
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter)
|
rs2143062233
|
|
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
|
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)
|
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
|
|
|
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs)
|
rs2143060935
|
|
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)
|
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)
|
rs2062169243
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
|
|
|
NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
|
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter)
|
rs752800577
|
|
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
|
|
|
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
|
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
|
rs2062089336
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs)
|
rs2151714692
|
|
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
|
|
|
NM_000135.4(FANCA):c.3910del (p.Ala1304fs)
|
rs2151714666
|
|
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)
|
rs748453841
|
|
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
|
rs1281446470
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
NM_000135.4(FANCA):c.3920del (p.Gln1307fs)
|
rs1228394297
|
|
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs)
|
rs2151714603
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
|
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)
|
rs1403231932
|
|
NM_000135.4(FANCA):c.3934+2T>C
|
rs771775516
|
|
NM_000135.4(FANCA):c.3935-1G>A
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-1G>T
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-2A>T
|
rs1189106357
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
|
|
|
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
|
|
|
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000135.4(FANCA):c.4011-1G>C
|
rs761988162
|
|
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)
|
rs773113065
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
|
|
|
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
|
rs1336834251
|
|
NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
|
|
|
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
|
|
|
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs)
|
rs1567592815
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)
|
rs199599393
|
|
NM_000135.4(FANCA):c.4168-1G>A
|
|
|
NM_000135.4(FANCA):c.4168-2A>G
|
rs1220672299
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs)
|
rs2062046121
|
|
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
|
rs2040853528
|
|
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)
|
rs2151710810
|
|
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)
|
rs2062043035
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
|
|
|
NM_000135.4(FANCA):c.4255del (p.Ala1419fs)
|
rs2151710687
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)
|
rs2062027006
|
|
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
|
|
|
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)
|
rs539460201
|
|
NM_000135.4(FANCA):c.443del (p.Leu148fs)
|
|
|
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
|
rs2040846500
|
|
NM_000135.4(FANCA):c.44_69del (p.Pro15fs)
|
rs2041137887
|
|
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter)
|
rs774448881
|
|
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
|
|
|
NM_000135.4(FANCA):c.50del (p.Gly17fs)
|
rs748624754
|
|
NM_000135.4(FANCA):c.542dup (p.Val182fs)
|
|
|
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
|
rs1598184500
|
|
NM_000135.4(FANCA):c.555del (p.His186fs)
|
|
|
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
|
|
|
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter)
|
rs776471397
|
|
NM_000135.4(FANCA):c.597-2A>T
|
|
|
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter)
|
rs2143632171
|
|
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
|
|
|
NM_000135.4(FANCA):c.643_644del (p.Cys215fs)
|
rs1338138752
|
|
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
|
|
|
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
|
rs2040599267
|
|
NM_000135.4(FANCA):c.709+1G>A
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+1G>C
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)
|
rs1311396994
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)
|
rs868620166
|
|
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
|
|
|
NM_000135.4(FANCA):c.737del (p.Gly246fs)
|
rs2143615845
|
|
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)
|
rs878853666
|
|
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
|
|
|
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
|
rs1353992080
|
|
NM_000135.4(FANCA):c.792+1G>A
|
rs2143615250
|
|
NM_000135.4(FANCA):c.792+1G>C
|
|
|
NM_000135.4(FANCA):c.793-1G>C
|
rs1567642367
|
|
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs)
|
rs2143585362
|
|
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
|
|
|
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)
|
|
|
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
|
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
|
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
NM_000135.4(FANCA):c.897del (p.Phe299fs)
|
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
|
|
|
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
|
rs2041101553
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.972del (p.Thr325fs)
|
|
|
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
|
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
|
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000136.2(FANCC):c.-78-?_250+?del
|
|
|
NM_000136.2(FANCC):c.997-?_1154+?del
|
|
|
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)
|
rs1064795597
|
|
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
|
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1073-1G>C
|
rs1554830249
|
|
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)
|
rs1057516919
|
|
NM_000136.3(FANCC):c.1106del (p.Lys369fs)
|
|
|
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)
|
rs1554829561
|
|
NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter)
|
rs2134551203
|
|
NM_000136.3(FANCC):c.1199del (p.Phe400fs)
|
rs2134550787
|
|
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
|
|
|
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)
|
|
|
NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)
|
|
|
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
|
|
|
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
|
rs765551897
|
|
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)
|
rs765551897
|
|
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)
|
rs2134548133
|
|
NM_000136.3(FANCC):c.1285_1297del (p.Tyr429fs)
|
|
|
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)
|
rs766105286
|
|
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
|
|
|
NM_000136.3(FANCC):c.1312_1329+68dup
|
rs1554829415
|
|
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs)
|
rs2071928804
|
|
NM_000136.3(FANCC):c.1327_1328del (p.Met443fs)
|
rs2134546063
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
NM_000136.3(FANCC):c.1351_1352del (p.Gly451fs)
|
|
|
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)
|
rs2134456127
|
|
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)
|
rs730881710
|
|
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)
|
rs1564641485
|
|
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
|
rs1035139114
|
|
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter)
|
rs1831172189
|
|
NM_000136.3(FANCC):c.140_143dup (p.Met48fs)
|
rs1831171802
|
|
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs)
|
rs1588029220
|
|
NM_000136.3(FANCC):c.1440dup (p.Ala481fs)
|
rs2071512726
|
|
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter)
|
rs762501862
|
|
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)
|
rs1057516488
|
|
NM_000136.3(FANCC):c.1533+1G>A
|
|
|
NM_000136.3(FANCC):c.1533+1G>T
|
rs753885687
|
|
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)
|
rs1554827159
|
|
NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs)
|
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
NM_000136.3(FANCC):c.1563dup (p.Ile522fs)
|
|
|
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)
|
|
|
NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG (p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer)
|
rs2134382573
|
|
NM_000136.3(FANCC):c.165+1G>A
|
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
NM_000136.3(FANCC):c.1655_1658dup (p.Leu554fs)
|
|
|
NM_000136.3(FANCC):c.16_23del (p.Val6fs)
|
|
|
NM_000136.3(FANCC):c.201del (p.Ile67fs)
|
rs2136091157
|
|
NM_000136.3(FANCC):c.220del (p.Ala74fs)
|
rs1588350264
|
|
NM_000136.3(FANCC):c.226del (p.Trp76fs)
|
rs2136090871
|
|
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter)
|
rs1189888124
|
|
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer)
|
rs2136090829
|
|
NM_000136.3(FANCC):c.251-2A>C
|
rs1057517219
|
|
NM_000136.3(FANCC):c.251-2A>G
|
rs1057517219
|
|
NM_000136.3(FANCC):c.251-2A>T
|
|
|
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
|
|
|
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)
|
rs777918411
|
|
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
|
|
|
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)
|
rs2136049324
|
|
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)
|
|
|
NM_000136.3(FANCC):c.293_296del (p.Ile98fs)
|
rs754779102
|
|
NM_000136.3(FANCC):c.294_297del (p.Asn99fs)
|
|
|
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
|
rs878853671
|
|
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)
|
rs730881731
|
|
NM_000136.3(FANCC):c.319_340dup (p.Ile114delinsThrIleLysThrTer)
|
rs2136048818
|
|
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter)
|
rs1830581816
|
|
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)
|
rs1064793405
|
|
NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)
|
|
|
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter)
|
rs1825725461
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)
|
rs1588220728
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
NM_000136.3(FANCC):c.381del (p.Phe127fs)
|
rs2135588524
|
|
NM_000136.3(FANCC):c.389_390del (p.Glu130fs)
|
rs1564720605
|
|
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)
|
rs1825714345
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.460del (p.Val154fs)
|
rs1825653076
|
|
NM_000136.3(FANCC):c.485dup (p.Glu163fs)
|
rs1554842611
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.49_56del (p.Gln17fs)
|
|
|
NM_000136.3(FANCC):c.507del (p.Phe169fs)
|
rs1588218493
|
|
NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)
|
|
|
NM_000136.3(FANCC):c.574dup (p.Thr192fs)
|
rs2135428096
|
|
NM_000136.3(FANCC):c.595del (p.Leu199fs)
|
rs1057519366
|
|
NM_000136.3(FANCC):c.5dup (p.Gln3fs)
|
rs1268491295
|
|
NM_000136.3(FANCC):c.612del (p.Ile205fs)
|
|
|
NM_000136.3(FANCC):c.635del (p.Gln212fs)
|
rs2135427018
|
|
NM_000136.3(FANCC):c.640dup (p.Ile214fs)
|
rs1057517203
|
|
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
|
|
|
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)
|
|
|
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)
|
rs374176091
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000136.3(FANCC):c.705del (p.Met236fs)
|
rs2135168243
|
|
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter)
|
rs2135167716
|
|
NM_000136.3(FANCC):c.76dup (p.Ser26fs)
|
|
|
NM_000136.3(FANCC):c.797_798dup (p.Asn267fs)
|
|
|
NM_000136.3(FANCC):c.839C>A (p.Ser280Ter)
|
rs749230615
|
|
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter)
|
rs1564667865
|
|
NM_000136.3(FANCC):c.863del (p.Pro288fs)
|
rs2134968283
|
|
NM_000136.3(FANCC):c.883dup (p.Asp295fs)
|
rs1826007748
|
|
NM_000136.3(FANCC):c.935_936del (p.Ile312fs)
|
|
|
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)
|
rs776529713
|
|
NM_000136.3(FANCC):c.957_958delinsTT (p.Gln320Ter)
|
rs2134922671
|
|
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
|
rs1825775052
|
|
NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)
|
|
|
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)
|
|
|
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
|
|
|
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)
|
rs1060503527
|
|
NM_000969.5(RPL5):c.153del (p.Met51fs)
|
rs2100677043
|
|
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
|
rs1571024385
|
|
NM_000969.5(RPL5):c.15dup (p.Val6fs)
|
rs1686990676
|
|
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)
|
rs1558284033
|
|
NM_000969.5(RPL5):c.173del (p.Arg58fs)
|
|
|
NM_000969.5(RPL5):c.175_176del (p.Asp59fs)
|
rs1571024430
|
|
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)
|
rs1558284062
|
|
NM_000969.5(RPL5):c.1A>C (p.Met1Leu)
|
rs2100672432
|
|
NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
|
|
|
NM_000969.5(RPL5):c.256dup (p.Tyr86fs)
|
rs1553121909
|
|
NM_000969.5(RPL5):c.272del (p.Gly91fs)
|
|
|
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
|
|
|
NM_000969.5(RPL5):c.4-7_4-4del
|
rs1558283792
|
|
NM_000969.5(RPL5):c.479_480del (p.Phe160fs)
|
|
|
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
|
rs148673599
|
|
NM_000969.5(RPL5):c.500dup (p.Asp168fs)
|
rs2100685034
|
|
NM_000969.5(RPL5):c.608dup (p.Asn203fs)
|
rs2100688383
|
|
NM_000969.5(RPL5):c.634dup (p.Met212fs)
|
rs1687178005
|
|
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)
|
rs121434405
|
|
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)
|
rs1558283853
|
|
NM_000969.5(RPL5):c.71del (p.Arg24fs)
|
|
|
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
|
|
|
NM_000969.5(RPL5):c.9_12del (p.Phe3fs)
|
rs1686990557
|
|
NM_000975.5(RPL11):c.100dup (p.Thr34fs)
|
|
|
NM_000975.5(RPL11):c.107del (p.Ala36fs)
|
rs2124429127
|
|
NM_000975.5(RPL11):c.111del (p.Lys38fs)
|
rs1553121684
|
|
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)
|
rs2124429140
|
|
NM_000975.5(RPL11):c.151dup (p.Ser51fs)
|
rs2124429183
|
|
NM_000975.5(RPL11):c.158-1G>A
|
rs151155897
|
|
NM_000975.5(RPL11):c.160dup (p.Arg54fs)
|
rs1644516691
|
|
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)
|
rs121434389
|
|
NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
|
|
|
NM_000975.5(RPL11):c.311del (p.Asn104fs)
|
|
|
NM_000975.5(RPL11):c.508-2A>G
|
rs1570569383
|
|
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
|
rs1570566590
|
|
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
|
rs1570566592
|
|
NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
|
|
|
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)
|
rs1560120302
|
|
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)
|
|
|
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)
|
rs1553811551
|
|
NM_001011.4(RPS7):c.-19+1G>T
|
|
|
NM_001011.4(RPS7):c.-19+2T>A
|
|
|
NM_001014.5(RPS10):c.1A>G (p.Met1Val)
|
rs2113806114
|
|
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
|
rs1581931439
|
|
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)
|
rs267607022
|
|
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
|
|
|
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)
|
rs2147404831
|
|
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
|
|
|
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)
|
rs2147445599
|
|
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
|
|
|
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)
|
|
|
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)
|
|
|
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter)
|
rs531943246
|
|
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs)
|
|
|
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs)
|
|
|
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)
|
|
|
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer)
|
rs2125000318
|
|
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)
|
|
|
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
|
|
|
NM_001018115.3(FANCD2):c.1577dup (p.Gln527fs)
|
|
|
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
|
|
|
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)
|
|
|
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
|
|
|
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)
|
|
|
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter)
|
rs1247410343
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)
|
|
|
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
|
|
|
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)
|
rs757567225
|
|
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs)
|
|
|
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs)
|
rs1221526082
|
|
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
|
|
|
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs)
|
|
|
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)
|
|
|
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs)
|
|
|
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)
|
|
|
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
|
|
|
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs)
|
|
|
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)
|
|
|
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
|
|
|
NM_001018115.3(FANCD2):c.230del (p.Lys77fs)
|
rs770835633
|
|
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs)
|
|
|
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs)
|
|
|
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs)
|
rs2124974621
|
|
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)
|
rs1374735618
|
|
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)
|
|
|
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)
|
|
|
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)
|
rs1289665675
|
|
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
|
|
|
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
|
|
|
NM_001018115.3(FANCD2):c.2809del (p.His937fs)
|
|
|
NM_001018115.3(FANCD2):c.280del (p.Glu94fs)
|
|
|
NM_001018115.3(FANCD2):c.2837T>G (p.Leu946Ter)
|
|
|
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
|
|
|
NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)
|
|
|
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)
|
rs762724830
|
|
NM_001018115.3(FANCD2):c.2854del (p.Thr952fs)
|
|
|
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)
|
|
|
NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)
|
|
|
NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)
|
|
|
NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)
|
|
|
NM_001018115.3(FANCD2):c.3044del (p.Cys1015fs)
|
|
|
NM_001018115.3(FANCD2):c.308_312del (p.Ser102_Tyr103insTer)
|
|
|
NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)
|
|
|
NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)
|
|
|
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs)
|
rs2125060144
|
|
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
|
|
|
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
|
|
|
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
|
|
|
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
|
|
|
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)
|
rs2125072527
|
|
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)
|
rs1559403654
|
|
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer)
|
|
|
NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)
|
|
|
NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)
|
|
|
NM_001018115.3(FANCD2):c.3502_3503insT (p.Pro1168fs)
|
|
|
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter)
|
rs1694376599
|
|
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
|
|
|
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
|
|
|
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
|
|
|
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)
|
rs757499508
|
|
NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)
|
|
|
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
|
|
|
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter)
|
rs148471911
|
|
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
|
|
|
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs)
|
|
|
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
|
|
|
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
|
|
|
NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter)
|
rs954149471
|
|
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)
|
|
|
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs)
|
rs1553607671
|
|
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)
|
|
|
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
|
|
|
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)
|
rs2086865775
|
|
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs)
|
|
|
NM_001018115.3(FANCD2):c.775del (p.Leu259fs)
|
rs2124989402
|
|
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)
|
|
|
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)
|
rs121917788
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)
|
|
|
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)
|
rs1283566463
|
|
NM_001022.4(RPS19):c.101del (p.Val34fs)
|
|
|
NM_001022.4(RPS19):c.13dup (p.Thr5fs)
|
rs149420497
|
|
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
|
|
|
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)
|
rs2074020491
|
|
NM_001022.4(RPS19):c.173-1G>T
|
rs2123283622
|
|
NM_001022.4(RPS19):c.173-2A>G
|
rs111833764
|
|
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)
|
rs104894711
|
|
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)
|
rs1555841301
|
|
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)
|
rs1555841301
|
|
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
|
|
|
NM_001022.4(RPS19):c.257dup (p.Val87fs)
|
rs2074118749
|
|
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs)
|
rs1555841356
|
|
NM_001022.4(RPS19):c.347del (p.Asp116fs)
|
|
|
NM_001022.4(RPS19):c.357-2A>G
|
|
|
NM_001022.4(RPS19):c.384_385del (p.Asp130fs)
|
rs869066130
|
|
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
|
|
|
NM_001022.4(RPS19):c.3G>A (p.Met1Ile)
|
rs138938035
|
|
NM_001022.4(RPS19):c.3G>T (p.Met1Ile)
|
rs138938035
|
|
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)
|
rs144337183
|
|
NM_001022.4(RPS19):c.412-2A>G
|
|
|
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)
|
rs2074021310
|
|
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)
|
rs2123256254
|
|
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
|
|
|
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)
|
rs104894716
|
|
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)
|
rs2074026880
|
|
NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)
|
rs1895918140
|
|
NM_001029.5(RPS26):c.1A>G (p.Met1Val)
|
rs143951267
|
|
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)
|
rs148942765
|
|
NM_001029.5(RPS26):c.2T>G (p.Met1Arg)
|
rs1895894261
|
|
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)
|
rs2136753850
|
|
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
|
|
|
NM_001029.5(RPS26):c.9_12del (p.Lys4fs)
|
rs2136753785
|
|
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
|
|
|
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
|
|
|
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
|
|
|
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
|
|
|
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
|
|
|
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs)
|
|
|
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter)
|
rs2151549770
|
|
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
|
|
|
NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151580463
|
|
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs)
|
rs2053682638
|
|
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
|
|
|
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
|
|
|
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs)
|
|
|
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
|
|
|
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
|
|
|
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
|
|
|
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
|
|
|
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
|
|
|
NM_001113378.2(FANCI):c.2029del (p.Trp677fs)
|
rs2151724213
|
|
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
|
|
|
NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)
|
|
|
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
|
|
|
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
|
|
|
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
|
|
|
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.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs)
|
rs2151740576
|
|
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
|
|
|
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
|
|
|
NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)
|
|
|
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
|
|
|
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
|
|
|
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
|
|
|
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
|
|
|
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
|
|
|
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
|
|
|
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs)
|
rs745893292
|
|
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
|
|
|
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
|
|
|
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
|
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
|
|
|
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
|
|
|
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
|
|
|
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
|
|
|
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs)
|
rs1596318782
|
|
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
|
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
|
|
|
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
|
|
|
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
|
|
|
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
|
|
|
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
|
|
|
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter)
|
rs2151924296
|
|
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
|
|
|
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
|
|
|
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
|
|
|
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs)
|
rs1567175626
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)
|
rs1567179036
|
|
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
|
|
|
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs)
|
rs1596336945
|
|
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
|
|
|
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
|
|
|
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter)
|
rs1060501900
|
|
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)
|
rs2152017390
|
|
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
|
|
|
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
|
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.474dup (p.Gln159fs)
|
|
|
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
|
|
|
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
|
|
|
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter)
|
rs878854181
|
|
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
|
|
|
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
|
|
|
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
|
|
|
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
|
|
|
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
|
|
|
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
|
|
|
NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
|
|
NM_001113378.2(FANCI):c.876_879del (p.His292fs)
|
rs2053066105
|
|
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
|
|
|
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)
|
rs754986558
|
|
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs)
|
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
NM_002049.4(GATA1):c.-4_21del (p.Met1fs)
|
|
|
NM_002049.4(GATA1):c.105dup (p.Ser36fs)
|
rs1273620943
|
|
NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
|
|
|
NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
|
|
|
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
|
rs398124628
|
|
NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
|
|
|
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs)
|
rs2147305695
|
|
NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
|
|
|
NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs)
|
rs1602219139
|
|
NM_002049.4(GATA1):c.169_170insTG (p.Ala57fs)
|
|
|
NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs)
|
rs2147305721
|
|
NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)
|
|
|
NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)
|
|
|
NM_002049.4(GATA1):c.192_196del (p.Arg64fs)
|
rs2147305736
|
|
NM_002049.4(GATA1):c.194_206del (p.Asp65fs)
|
|
|
NM_002049.4(GATA1):c.21del (p.Ser8fs)
|
rs1557020001
|
|
NM_002049.4(GATA1):c.220+1G>T
|
|
|
NM_002049.4(GATA1):c.220+1del
|
rs587776453
|
|
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)
|
rs587776452
|
|
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)
|
rs2147306077
|
|
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)
|
rs587776451
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.3G>T (p.Met1Ile)
|
rs2147305526
|
|
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)
|
rs2062673523
|
|
NM_002049.4(GATA1):c.5_8dup (p.Phe3fs)
|
rs1602218917
|
|
NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
|
|
|
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)
|
rs1557020021
|
|
NM_002049.4(GATA1):c.90_91del (p.Val32fs)
|
rs2147305615
|
|
NM_002049.4(GATA1):c.94dup (p.Val32fs)
|
rs1569499310
|
|
NM_002049.4(GATA1):c.98dup (p.Phe34fs)
|
rs2062673787
|
|
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)
|
rs397507560
|
|
NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter)
|
rs2131055405
|
|
NM_004629.2(FANCG):c.1008dup (p.Pro337fs)
|
rs1829086026
|
|
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)
|
rs2131055360
|
|
NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter)
|
rs745928033
|
|
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)
|
rs121434426
|
|
NM_004629.2(FANCG):c.1091del (p.Ala364fs)
|
|
|
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)
|
rs1326382443
|
|
NM_004629.2(FANCG):c.1144-1G>A
|
|
|
NM_004629.2(FANCG):c.1144-2A>G
|
|
|
NM_004629.2(FANCG):c.1158del (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
NM_004629.2(FANCG):c.1167_1168del (p.Gly390fs)
|
|
|
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)
|
rs397507559
|
|
NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter)
|
rs748730134
|
|
NM_004629.2(FANCG):c.1216del (p.Gln406fs)
|
rs758423821
|
|
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
|
|
|
NM_004629.2(FANCG):c.1246_1247del (p.Leu416fs)
|
rs2131054083
|
|
NM_004629.2(FANCG):c.1248_1249del (p.Leu416_Cys417insTer)
|
|
|
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter)
|
rs886063896
|
|
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)
|
rs2131053943
|
|
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)
|
|
|
NM_004629.2(FANCG):c.1428del (p.Phe476fs)
|
|
|
NM_004629.2(FANCG):c.1472_1473del (p.Lys491fs)
|
|
|
NM_004629.2(FANCG):c.1473del (p.Glu492fs)
|
|
|
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
|
|
|
NM_004629.2(FANCG):c.1483del
|
rs760738460
|
|
NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)
|
|
|
NM_004629.2(FANCG):c.156dup (p.Leu53fs)
|
rs863224506
|
|
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter)
|
rs1461242610
|
|
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer)
|
rs753485145
|
|
NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter)
|
rs1157985962
|
|
NM_004629.2(FANCG):c.1593del (p.Ala533fs)
|
rs761519737
|
|
NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)
|
|
|
NM_004629.2(FANCG):c.1604dup (p.Asp536fs)
|
|
|
NM_004629.2(FANCG):c.161dup (p.His55fs)
|
rs886063898
|
|
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)
|
rs770263417
|
|
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter)
|
rs2131051951
|
|
NM_004629.2(FANCG):c.1653del (p.His553fs)
|
|
|
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)
|
rs1829041127
|
|
NM_004629.2(FANCG):c.182del (p.Pro61fs)
|
|
|
NM_004629.2(FANCG):c.214_217del (p.Thr72fs)
|
rs747660501
|
|
NM_004629.2(FANCG):c.21dup (p.Val8fs)
|
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
|
|
|
NM_004629.2(FANCG):c.336del (p.Arg113fs)
|
rs2131058595
|
|
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter)
|
rs2131058553
|
|
NM_004629.2(FANCG):c.380_386dup (p.Leu131fs)
|
|
|
NM_004629.2(FANCG):c.395dup (p.Pro133fs)
|
rs2131058481
|
|
NM_004629.2(FANCG):c.552dup (p.Ser185fs)
|
rs1412207017
|
|
NM_004629.2(FANCG):c.560del (p.Pro187fs)
|
rs2131057213
|
|
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter)
|
rs1829104194
|
|
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)
|
rs755361015
|
|
NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)
|
|
|
NM_004629.2(FANCG):c.604G>T (p.Gly202Ter)
|
rs1449918930
|
|
NM_004629.2(FANCG):c.620del (p.Leu207fs)
|
rs753727461
|
|
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)
|
rs587776640
|
|
NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)
|
|
|
NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)
|
|
|
NM_004629.2(FANCG):c.689del (p.Ser230fs)
|
rs2131056614
|
|
NM_004629.2(FANCG):c.692del (p.Ser231fs)
|
|
|
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
|
|
|
NM_004629.2(FANCG):c.713dup (p.Leu239fs)
|
rs2131056549
|
|
NM_004629.2(FANCG):c.76C>T (p.Gln26Ter)
|
rs2131060266
|
|
NM_004629.2(FANCG):c.787_788del (p.Gln263fs)
|
|
|
NM_004629.2(FANCG):c.824_825del (p.Glu275fs)
|
rs867467817
|
|
NM_004629.2(FANCG):c.825_828del (p.Glu275fs)
|
|
|
NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)
|
|
|
NM_004629.2(FANCG):c.883dup (p.Asp295fs)
|
rs1829092483
|
|
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
|
|
|
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)
|
rs1563986439
|
|
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
|
|
|
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
|
|
|
NM_004629.2(FANCG):c.941del (p.Cys314fs)
|
|
|
NM_004629.2(FANCG):c.981dup (p.Leu328fs)
|
rs2131055463
|
|
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)
|
rs779091652
|
|
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
|
|
|
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
|
|
|
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
|
|
|
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
|
|
|
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer)
|
rs1555468482
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
|
rs772899497
|
|
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
|
rs774510191
|
|
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)
|
rs1419167361
|
|
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)
|
rs1355878901
|
|
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
|
|
|
NM_005236.3(ERCC4):c.68del (p.Val23fs)
|
|
|
NM_005236.3(ERCC4):c.793-2A>G
|
rs2032155264
|
|
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
|
|
|
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
|
|
|
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
|
|
|
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
|
|
|
NM_005236.3(ERCC4):c.915del (p.Asn308fs)
|
rs772432152
|
|
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
|
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
|
|
NM_018062.4(FANCL):c.13del (p.Glu5fs)
|
|
|
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter)
|
rs753105795
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
|
|
|
NM_018062.4(FANCL):c.235del (p.Asp79fs)
|
|
|
NM_018062.4(FANCL):c.268del (p.Leu90fs)
|
rs869320684
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)
|
rs1196510455
|
|
NM_018062.4(FANCL):c.2T>G (p.Met1Arg)
|
rs761291501
|
|
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
|
|
|
NM_018062.4(FANCL):c.320del (p.Pro107fs)
|
|
|
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
|
|
|
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
|
|
|
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
|
rs756487177
|
|
NM_018062.4(FANCL):c.378del (p.Val127fs)
|
|
|
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
|
|
|
NM_018062.4(FANCL):c.385_397del (p.Ala129fs)
|
rs2105148069
|
|
NM_018062.4(FANCL):c.3G>A (p.Met1Ile)
|
rs1694527909
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.40dup (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.426_438del (p.Asp142fs)
|
rs878855046
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
|
|
|
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
|
|
|
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)
|
rs1689679880
|
|
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
|
|
|
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
|
|
|
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
|
|
|
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
|
|
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
|
|
|
NM_018062.4(FANCL):c.659del (p.Pro220fs)
|
|
|
NM_018062.4(FANCL):c.682del (p.Ile228fs)
|
|
|
NM_018062.4(FANCL):c.739_740dup (p.Met247fs)
|
rs1685514075
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
NM_018062.4(FANCL):c.813_816del (p.His272fs)
|
rs1558735946
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
|
|
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
|
|
|
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
|
|
|
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
|
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)
|
rs1423411761
|
|
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
|
|
|
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
|
|
|
NM_020937.4(FANCM):c.1015del (p.Asp339fs)
|
rs1216266838
|
|
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)
|
|
|
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter)
|
rs765686151
|
|
NM_020937.4(FANCM):c.1165del (p.Ile389fs)
|
|
|
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter)
|
rs1166587869
|
|
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer)
|
rs1467556424
|
|
NM_020937.4(FANCM):c.1286del (p.Asn429fs)
|
|
|
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter)
|
rs1270367757
|
|
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer)
|
|
|
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter)
|
rs552052505
|
|
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter)
|
rs2139186499
|
|
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter)
|
|
|
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs)
|
|
|
NM_020937.4(FANCM):c.1560del (p.Phe520fs)
|
rs2139186964
|
|
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter)
|
rs1447482674
|
|
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs)
|
rs1887822022
|
|
NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs)
|
rs1887832125
|
|
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter)
|
rs778744393
|
|
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs)
|
rs1888023074
|
|
NM_020937.4(FANCM):c.1844del (p.Asn615fs)
|
rs2139214355
|
|
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)
|
|
|
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs)
|
rs777996811
|
|
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)
|
|
|
NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)
|
|
|
NM_020937.4(FANCM):c.2108dup (p.Thr704fs)
|
|
|
NM_020937.4(FANCM):c.2138del (p.Leu713fs)
|
rs1594792135
|
|
NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs)
|
rs762570903
|
|
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer)
|
|
|
NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)
|
|
|
NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter)
|
rs1888447684
|
|
NM_020937.4(FANCM):c.2255del (p.His751_Ser752insTer)
|
|
|
NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter)
|
|
|
NM_020937.4(FANCM):c.2336dup (p.Leu779fs)
|
rs1404537579
|
|
NM_020937.4(FANCM):c.2359del (p.Met787fs)
|
|
|
NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)
|
|
|
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs)
|
rs768006618
|
|
NM_020937.4(FANCM):c.2589del (p.Asp864fs)
|
rs768006618
|
|
NM_020937.4(FANCM):c.2590del (p.Asp864fs)
|
rs1566762159
|
|
NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs)
|
|
|
NM_020937.4(FANCM):c.2629dup (p.Ser877fs)
|
rs1888605629
|
|
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer)
|
rs2139244126
|
|
NM_020937.4(FANCM):c.2953del (p.Glu985fs)
|
|
|
NM_020937.4(FANCM):c.2982dup (p.Ser995fs)
|
|
|
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
|
|
|
NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)
|
|
|
NM_020937.4(FANCM):c.3190del (p.Ser1064fs)
|
rs778191984
|
|
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs)
|
|
|
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter)
|
rs1555364837
|
|
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs)
|
rs1888681090
|
|
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs)
|
rs2139248770
|
|
NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter)
|
rs2139249281
|
|
NM_020937.4(FANCM):c.3603del (p.Phe1201fs)
|
|
|
NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter)
|
rs372276411
|
|
NM_020937.4(FANCM):c.3639dup (p.Val1214fs)
|
|
|
NM_020937.4(FANCM):c.3732_3735dup (p.Leu1246fs)
|
rs1159078705
|
|
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter)
|
rs1888718087
|
|
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs)
|
|
|
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter)
|
rs751795256
|
|
NM_020937.4(FANCM):c.3950dup (p.Asn1317fs)
|
rs2139252496
|
|
NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)
|
|
|
NM_020937.4(FANCM):c.3985del (p.Ser1329fs)
|
|
|
NM_020937.4(FANCM):c.4005del (p.Val1336fs)
|
rs746983128
|
|
NM_020937.4(FANCM):c.4005dup (p.Val1336fs)
|
rs746983128
|
|
NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)
|
|
|
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs)
|
|
|
NM_020937.4(FANCM):c.4101dup (p.Val1368fs)
|
rs747974206
|
|
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter)
|
rs776133776
|
|
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter)
|
rs1235515288
|
|
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs)
|
|
|
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs)
|
|
|
NM_020937.4(FANCM):c.4285del (p.Arg1429fs)
|
rs1227066484
|
|
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)
|
|
|
NM_020937.4(FANCM):c.4304_4305insSVAelement
|
|
|
NM_020937.4(FANCM):c.4456del (p.Val1486fs)
|
rs1478392446
|
|
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs)
|
|
|
NM_020937.4(FANCM):c.4477del (p.Arg1493fs)
|
rs1889219103
|
|
NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)
|
|
|
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)
|
|
|
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs)
|
rs1566775922
|
|
NM_020937.4(FANCM):c.4574_4575del (p.Tyr1525fs)
|
|
|
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter)
|
rs1594810556
|
|
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer)
|
rs1594810654
|
|
NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)
|
|
|
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter)
|
rs1885521004
|
|
NM_020937.4(FANCM):c.4779+1del
|
rs764534989
|
|
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)
|
|
|
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs)
|
rs1566782962
|
|
NM_020937.4(FANCM):c.5097_5100del (p.Lys1699fs)
|
|
|
NM_020937.4(FANCM):c.516dup (p.Gln173fs)
|
rs2139106255
|
|
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs)
|
|
|
NM_020937.4(FANCM):c.5201del (p.Thr1734fs)
|
rs2139297782
|
|
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)
|
|
|
NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)
|
|
|
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer)
|
rs1566783809
|
|
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter)
|
rs1324635932
|
|
NM_020937.4(FANCM):c.5380del (p.Ser1794fs)
|
rs1890046687
|
|
NM_020937.4(FANCM):c.538del (p.Ile180fs)
|
rs2139106358
|
|
NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter)
|
rs1594481199
|
|
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter)
|
rs1354153410
|
|
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs)
|
|
|
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs)
|
rs1566790465
|
|
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)
|
|
|
NM_020937.4(FANCM):c.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs)
|
|
|
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter)
|
|
|
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs)
|
|
|
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs)
|
rs1203346034
|
|
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs)
|
|
|
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)
|
|
|
NM_020937.4(FANCM):c.708_714del (p.Asn237fs)
|
rs1885850135
|
|
NM_020937.4(FANCM):c.710del (p.Asn237fs)
|
rs1340295590
|
|
NM_020937.4(FANCM):c.81del (p.Gly28fs)
|
rs2139099848
|
|
NM_020937.4(FANCM):c.855del (p.Val286fs)
|
rs2139151883
|
|
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
|
|
|
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)
|
|
|
NM_020937.4(FANCM):c.909_910del (p.Ile305fs)
|
rs1886630094
|
|
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
|
|
|
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
|
|
|
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)
|
|
|
NM_021922.3(FANCE):c.1096del (p.Ser366fs)
|
rs1272613429
|
|
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA
|
rs1767491456
|
|
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)
|
|
|
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs)
|
rs2150896309
|
|
NM_021922.3(FANCE):c.118del (p.Ala40fs)
|
|
|
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)
|
rs1561792535
|
|
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
|
|
|
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
|
|
|
NM_021922.3(FANCE):c.1363del (p.Gln455fs)
|
rs1767552099
|
|
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)
|
rs2150885915
|
|
NM_021922.3(FANCE):c.209del (p.Glu70fs)
|
|
|
NM_021922.3(FANCE):c.334del (p.Ser112fs)
|
rs1479445348
|
|
NM_021922.3(FANCE):c.339del (p.Leu114fs)
|
|
|
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
|
|
|
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
|
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
|
|
|
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
|
|
|
NM_021922.3(FANCE):c.538del (p.Ser180fs)
|
|
|
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
|
|
|
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)
|
|
|
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
|
|
|
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
|
|
|
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
|
|
|
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)
|
rs1767152512
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_021922.3(FANCE):c.931dup (p.Val311fs)
|
|
|
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter)
|
rs1767417868
|
|
NM_022725.4(FANCF):c.123dup (p.Arg42fs)
|
rs1858636931
|
|
NM_022725.4(FANCF):c.133_136del (p.His45fs)
|
|
|
NM_022725.4(FANCF):c.219del (p.Arg74fs)
|
rs1858634363
|
|
NM_022725.4(FANCF):c.230_252del (p.Val77fs)
|
rs730880277
|
|
NM_022725.4(FANCF):c.236del (p.Gly79fs)
|
|
|
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs)
|
rs2133798885
|
|
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
|
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter)
|
rs2133798073
|
|
NM_022725.4(FANCF):c.351_397del (p.Gly120fs)
|
rs730880278
|
|
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
|
|
|
NM_022725.4(FANCF):c.3G>A (p.Met1Ile)
|
rs2133798927
|
|
NM_022725.4(FANCF):c.484_485del (p.Leu162fs)
|
rs587778340
|
|
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
|
|
|
NM_022725.4(FANCF):c.538del (p.Ala180fs)
|
|
|
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)
|
rs1479457172
|
|
NM_022725.4(FANCF):c.63del (p.Tyr22fs)
|
|
|
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
|
|
|
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)
|
|
|
NM_022725.4(FANCF):c.84del (p.Ala29fs)
|
rs1275961745
|
|
NM_022725.4(FANCF):c.88dup (p.Thr30fs)
|
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
NM_032043.3(BRIP1):c.-31+498_187del
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
|
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs)
|
rs1603343235
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)
|
rs769081927
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
|
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
NM_032043.3(BRIP1):c.1158del (p.Glu387fs)
|
rs2145309797
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
|
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs)
|
rs2145307730
|
|
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs)
|
rs2077951770
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs)
|
rs2077949826
|
|
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer)
|
rs2077948208
|
|
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs)
|
rs2145303552
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter)
|
rs2145302423
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
|
|
|
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
|
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs)
|
rs2077947183
|
|
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)
|
rs2145300052
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)
|
rs587780875
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
NM_032043.3(BRIP1):c.1417del (p.Met473fs)
|
rs2145241576
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
|
|
|
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs)
|
rs2077853451
|
|
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs)
|
rs1603340281
|
|
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
|
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)
|
rs1555618738
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)
|
rs1603336980
|
|
NM_032043.3(BRIP1):c.1537del (p.Ala513fs)
|
rs1567816997
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs)
|
rs2145135739
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)
|
rs1603336897
|
|
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)
|
rs2078949879
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)
|
rs2077611091
|
|
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
|
|
|
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)
|
rs2145095898
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)
|
rs1603334619
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)
|
rs2145094630
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)
|
rs2077609103
|
|
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs)
|
rs2145850255
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)
|
rs2145849937
|
|
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs)
|
rs1555602127
|
|
NM_032043.3(BRIP1):c.1935+1del
|
rs2077594062
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs)
|
rs2077537479
|
|
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs)
|
rs2145033356
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs)
|
rs2145032405
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)
|
rs2145031089
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs)
|
rs2145030551
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
NM_032043.3(BRIP1):c.2053del (p.Gln685fs)
|
rs2145028011
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer)
|
rs2145027657
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)
|
rs1603328406
|
|
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
|
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
|
|
|
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
|
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)
|
rs2144696024
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
|
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
|
|
|
NM_032043.3(BRIP1):c.237del (p.Ala80fs)
|
rs2145830843
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
|
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs)
|
rs2144381014
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs)
|
rs2144380398
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.2491del (p.Arg831fs)
|
rs1555580769
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
NM_032043.3(BRIP1):c.2510del (p.Asn837fs)
|
rs2144187480
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
|
|
|
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)
|
rs2145830278
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)
|
rs587781830
|
|
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)
|
rs370175724
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs)
|
rs1603277005
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
|
|
|
NM_032043.3(BRIP1):c.2640del (p.Leu881fs)
|
rs1567731917
|
|
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
|
|
|
NM_032043.3(BRIP1):c.2670del (p.Val891fs)
|
rs2144115743
|
|
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
|
|
|
NM_032043.3(BRIP1):c.26del (p.Thr9fs)
|
rs2145865744
|
|
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
|
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)
|
rs759080195
|
|
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs)
|
rs2144113535
|
|
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
|
|
|
NM_032043.3(BRIP1):c.2737del (p.Ser913fs)
|
rs1555573386
|
|
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer)
|
rs2144113001
|
|
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs)
|
rs2144112699
|
|
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs)
|
rs1603276728
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
NM_032043.3(BRIP1):c.2792del (p.Pro931fs)
|
rs1555573327
|
|
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)
|
rs199643061
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
|
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
|
rs2061353270
|
|
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
|
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
|
|
|
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
|
|
|
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
|
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
|
|
|
NM_032043.3(BRIP1):c.308del (p.Gly103fs)
|
rs1555617834
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
|
|
|
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)
|
rs1603366250
|
|
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs)
|
rs2145826463
|
|
NM_032043.3(BRIP1):c.356del (p.Asn119fs)
|
rs2145826750
|
|
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs)
|
rs1567874485
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
NM_032043.3(BRIP1):c.440del (p.Tyr147fs)
|
rs1555616176
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter)
|
rs1603362622
|
|
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter)
|
rs1603362622
|
|
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer)
|
rs2078779429
|
|
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs)
|
rs2145763904
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
|
|
|
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
|
|
|
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
|
|
|
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2145761401
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
|
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
|
|
|
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)
|
rs1555615763
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
|
|
|
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer)
|
rs1603361577
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
NM_032043.3(BRIP1):c.632del (p.Pro211fs)
|
rs1060501779
|
|
NM_032043.3(BRIP1):c.637del (p.His213fs)
|
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)
|
rs1603368431
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
|
|
|
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs)
|
rs1603368490
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
NM_032043.3(BRIP1):c.94-7_178dup
|
rs1555618396
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
|
rs1603367753
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)
|
rs2077991700
|
|
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
|
|
|
NM_032444.4(SLX4):c.1029del (p.Thr345fs)
|
|
|
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
|
|
|
NM_032444.4(SLX4):c.1093del (p.Gln365fs)
|
rs1218169126
|
|
NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)
|
rs1171341642
|
|
NM_032444.4(SLX4):c.1163+2dup
|
rs2040719850
|
|
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
|
|
|
NM_032444.4(SLX4):c.1406dup (p.Leu470fs)
|
|
|
NM_032444.4(SLX4):c.1533del (p.Trp513fs)
|
|
|
NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
|
|
|
NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)
|
|
|
NM_032444.4(SLX4):c.1731dup (p.Glu578fs)
|
|
|
NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)
|
|
|
NM_032444.4(SLX4):c.1868del (p.Leu623fs)
|
|
|
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)
|
rs1266198754
|
|
NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)
|
|
|
NM_032444.4(SLX4):c.1957_1960del (p.Thr653fs)
|
|
|
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
|
|
|
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter)
|
rs2151126006
|
|
NM_032444.4(SLX4):c.2449del (p.Glu817fs)
|
rs1567170994
|
|
NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)
|
|
|
NM_032444.4(SLX4):c.2594_2595del (p.Leu865fs)
|
|
|
NM_032444.4(SLX4):c.2635_2636insA (p.Trp879Ter)
|
rs2151125489
|
|
NM_032444.4(SLX4):c.2793_2805del (p.Gln934fs)
|
|
|
NM_032444.4(SLX4):c.2800del (p.Gln934fs)
|
|
|
NM_032444.4(SLX4):c.2974_2977del (p.Gly992fs)
|
rs2151124655
|
|
NM_032444.4(SLX4):c.307del (p.Leu103fs)
|
|
|
NM_032444.4(SLX4):c.3144_3148del (p.His1050fs)
|
|
|
NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter)
|
rs2151123968
|
|
NM_032444.4(SLX4):c.3282del (p.Glu1094fs)
|
rs2151123906
|
|
NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)
|
|
|
NM_032444.4(SLX4):c.3619_3643del (p.Pro1207fs)
|
rs1440022090
|
|
NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)
|
|
|
NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter)
|
rs770687847
|
|
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs)
|
rs878855162
|
|
NM_032444.4(SLX4):c.3731del (p.Ser1244fs)
|
|
|
NM_032444.4(SLX4):c.383G>A (p.Trp128Ter)
|
rs1193906930
|
|
NM_032444.4(SLX4):c.3906del (p.Asn1302fs)
|
|
|
NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter)
|
rs2040557100
|
|
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)
|
rs2040556390
|
|
NM_032444.4(SLX4):c.3961_3962dup (p.Ser1322fs)
|
|
|
NM_032444.4(SLX4):c.3983_4115del (p.Val1328fs)
|
rs2151122078
|
|
NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)
|
|
|
NM_032444.4(SLX4):c.4024del (p.Ser1342fs)
|
|
|
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
|
rs1596520443
|
|
NM_032444.4(SLX4):c.4133del (p.Pro1378fs)
|
rs1174332682
|
|
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)
|
rs1374549534
|
|
NM_032444.4(SLX4):c.4258_4259dup (p.Ile1421fs)
|
rs781663547
|
|
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs)
|
rs781663547
|
|
NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter)
|
rs1028935047
|
|
NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)
|
|
|
NM_032444.4(SLX4):c.4336_4340del (p.Thr1446fs)
|
|
|
NM_032444.4(SLX4):c.4381_4391del (p.Ala1461fs)
|
rs751653739
|
|
NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)
|
|
|
NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)
|
|
|
NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)
|
|
|
NM_032444.4(SLX4):c.4668del (p.Val1558fs)
|
|
|
NM_032444.4(SLX4):c.4668dup (p.Lys1557fs)
|
|
|
NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)
|
|
|
NM_032444.4(SLX4):c.4764del (p.Lys1588fs)
|
rs1567166655
|
|
NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter)
|
rs143026968
|
|
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)
|
rs200628199
|
|
NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter)
|
rs761469284
|
|
NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
|
|
|
NM_032444.4(SLX4):c.4862del (p.Leu1621fs)
|
rs1567166544
|
|
NM_032444.4(SLX4):c.4921dup (p.Val1641fs)
|
rs770425994
|
|
NM_032444.4(SLX4):c.5055_5058dup (p.Pro1687fs)
|
rs2151116570
|
|
NM_032444.4(SLX4):c.514del (p.Leu172fs)
|
rs1567178071
|
|
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)
|
rs2040788600
|
|
NM_032444.4(SLX4):c.59del (p.Leu20fs)
|
rs1315905872
|
|
NM_032444.4(SLX4):c.619_623dup (p.Leu208fs)
|
|
|
NM_032444.4(SLX4):c.86_89del (p.Arg29fs)
|
rs2151139911
|
|
NM_033022.4(RPS24):c.13_14del (p.Val5fs)
|
rs1589326484
|
|
NM_033022.4(RPS24):c.1A>G (p.Met1Val)
|
rs886039545
|
|
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
|
|
|
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)
|
rs104894189
|
|
NM_033084.4(FANCD2):c.-33-?_1098+?del
|
|
|
NM_033084.6(FANCD2):c.2609_2613del
|
|
|
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
|
|
|
NM_058216.1(RAD51C):c.(?_-1)_837+?del
|
|
|
NM_058216.1(RAD51C):c.572-?_(*1_?)del
|
|
|
NM_058216.1(RAD51C):c.966-?_1026+?del
|
|
|
NM_058216.2(RAD51C):c.572-?_*120del
|
|
|
NM_058216.2(RAD51C):c.572-?_705+?del
|
|
|
NM_058216.2(RAD51C):c.706-?_*120del
|
|
|
NM_058216.3(RAD51C):c.109del (p.Glu37fs)
|
|
|
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)
|
rs1598449660
|
|
NM_058216.3(RAD51C):c.145+1G>A
|
rs757128712
|
|
NM_058216.3(RAD51C):c.145+1G>T
|
rs757128712
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
NM_058216.3(RAD51C):c.158del (p.Ser53fs)
|
rs587782533
|
|
NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter)
|
rs2047940709
|
|
NM_058216.3(RAD51C):c.168del (p.Ala57fs)
|
rs2143717943
|
|
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)
|
rs786203945
|
|
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)
|
rs587782170
|
|
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)
|
rs1567785872
|
|
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)
|
rs1567785888
|
|
NM_058216.3(RAD51C):c.209_210del (p.Thr70fs)
|
|
|
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs)
|
rs786202563
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter)
|
rs1555593553
|
|
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs)
|
rs2143721294
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
NM_058216.3(RAD51C):c.274G>T (p.Glu92Ter)
|
rs765304898
|
|
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)
|
rs1555593670
|
|
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter)
|
rs1555593715
|
|
NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs)
|
rs2047953067
|
|
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter)
|
rs1567782755
|
|
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
|
|
|
NM_058216.3(RAD51C):c.353_356del (p.Met118fs)
|
|
|
NM_058216.3(RAD51C):c.358dup (p.Thr120fs)
|
rs2143725868
|
|
NM_058216.3(RAD51C):c.363_370del (p.Glu122fs)
|
|
|
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)
|
rs2047958236
|
|
NM_058216.3(RAD51C):c.37_38insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGCAGCGGG (p.Asp13fs)
|
|
|
NM_058216.3(RAD51C):c.394del (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter)
|
rs1233795152
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)
|
rs2048021234
|
|
NM_058216.3(RAD51C):c.444del (p.Phe148fs)
|
rs1555594617
|
|
NM_058216.3(RAD51C):c.444dup (p.Gly149fs)
|
rs1555594617
|
|
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
|
rs1598460178
|
|
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)
|
rs2143746162
|
|
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
|
|
|
NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)
|
|
|
NM_058216.3(RAD51C):c.485del (p.Gly162fs)
|
rs2143746632
|
|
NM_058216.3(RAD51C):c.491_492del (p.Phe164fs)
|
rs2143746939
|
|
NM_058216.3(RAD51C):c.496del (p.Val166fs)
|
rs2143747219
|
|
NM_058216.3(RAD51C):c.498del (p.Asp167fs)
|
rs746993675
|
|
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs)
|
rs587782699
|
|
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)
|
rs587781490
|
|
NM_058216.3(RAD51C):c.502dup (p.Arg168fs)
|
rs2143747561
|
|
NM_058216.3(RAD51C):c.508del (p.Val169_Val170insTer)
|
|
|
NM_058216.3(RAD51C):c.50del (p.Phe17fs)
|
rs1555591851
|
|
NM_058216.3(RAD51C):c.519dup (p.Thr174fs)
|
rs1598460710
|
|
NM_058216.3(RAD51C):c.525dup (p.Cys176fs)
|
rs768793789
|
|
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)
|
rs1598448896
|
|
NM_058216.3(RAD51C):c.535del (p.His179fs)
|
rs1555594864
|
|
NM_058216.3(RAD51C):c.53del (p.Pro18fs)
|
|
|
NM_058216.3(RAD51C):c.54del (p.Leu19fs)
|
|
|
NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter)
|
rs1363104728
|
|
NM_058216.3(RAD51C):c.561_562del (p.His187fs)
|
rs1057517812
|
|
NM_058216.3(RAD51C):c.562_563del (p.Lys188fs)
|
rs2143749861
|
|
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs)
|
rs1555594912
|
|
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter)
|
rs1330937621
|
|
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter)
|
rs1555597094
|
|
NM_058216.3(RAD51C):c.597_603del (p.Phe199fs)
|
rs2048269550
|
|
NM_058216.3(RAD51C):c.612del (p.Leu205fs)
|
rs2143797889
|
|
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
|
|
|
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs)
|
rs876659497
|
|
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
|
|
|
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)
|
rs786201909
|
|
NM_058216.3(RAD51C):c.650_651del (p.Thr217fs)
|
rs2048272509
|
|
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs)
|
rs587782286
|
|
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter)
|
rs201529791
|
|
NM_058216.3(RAD51C):c.675del (p.Leu226fs)
|
rs2048274544
|
|
NM_058216.3(RAD51C):c.688del (p.Leu230fs)
|
rs2143801496
|
|
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs)
|
rs2047807048
|
|
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer)
|
rs2143801795
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
NM_058216.3(RAD51C):c.704del (p.Lys235fs)
|
rs1567794476
|
|
NM_058216.3(RAD51C):c.704dup (p.Val236fs)
|
rs1567794476
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
NM_058216.3(RAD51C):c.706-1G>A
|
rs1555599090
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
NM_058216.3(RAD51C):c.72_73insAT (p.Val25fs)
|
rs775482687
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
NM_058216.3(RAD51C):c.738del (p.Pro247fs)
|
|
|
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs)
|
rs1567782936
|
|
NM_058216.3(RAD51C):c.75dup (p.Lys26fs)
|
|
|
NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)
|
|
|
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
|
|
|
NM_058216.3(RAD51C):c.785_786insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTACTCGGTTATT (p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer)
|
rs2143852568
|
|
NM_058216.3(RAD51C):c.795del (p.Ala266fs)
|
rs2143853617
|
|
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
|
|
|
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)
|
rs1567799818
|
|
NM_058216.3(RAD51C):c.82dup (p.Val28fs)
|
rs2143677258
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
NM_058216.3(RAD51C):c.837+5G>A
|
|
|
NM_058216.3(RAD51C):c.83dup (p.Ser29fs)
|
|
|
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)
|
rs1060502605
|
|
NM_058216.3(RAD51C):c.860del (p.Thr287fs)
|
rs2143930383
|
|
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)
|
rs1555602141
|
|
NM_058216.3(RAD51C):c.905-1G>A
|
rs2143961181
|
|
NM_058216.3(RAD51C):c.905-2A>G
|
rs779582317
|
|
NM_058216.3(RAD51C):c.905-3_906del
|
rs730881941
|
|
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)
|
rs2143961266
|
|
NM_058216.3(RAD51C):c.910del (p.Ser304fs)
|
rs1555603011
|
|
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)
|
rs2143961567
|
|
NM_058216.3(RAD51C):c.917del (p.Gly306fs)
|
rs2143961536
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter)
|
rs2143963184
|
|
NM_058216.3(RAD51C):c.965+1G>A
|
rs730881933
|
|
NM_058216.3(RAD51C):c.965+5G>A
|
rs774586107
|
|
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs)
|
rs587780840
|
|
NM_058216.3(RAD51C):c.981C>A (p.Tyr327Ter)
|
rs2144044910
|
|
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
|
|
|
Single allele
|
|
|