|
NM_001022.4(RPS19):c.356+14=
|
rs1366610
|
0.99999
|
|
NM_005236.3(ERCC4):c.974-7G>A
|
rs254942
|
0.97995
|
|
NM_001113378.2(FANCI):c.2547= (p.Lys849=)
|
rs7183618
|
0.95848
|
|
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)
|
rs4986765
|
0.74166
|
|
NM_000135.4(FANCA):c.710-12A>G
|
rs1800286
|
0.71452
|
|
NM_018062.4(FANCL):c.981T>C (p.Ser327=)
|
rs848291
|
0.69782
|
|
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=)
|
rs3810812
|
0.63612
|
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
|
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
|
rs4986763
|
0.60694
|
|
NM_001018113.3(FANCB):c.1327-10T>C
|
rs2905223
|
0.53797
|
|
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
|
rs7190823
|
0.52564
|
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
|
NM_000135.4(FANCA):c.1826+15T>C
|
rs1800337
|
0.51138
|
|
NM_001113378.2(FANCI):c.1698+15C>T
|
rs9806604
|
0.46880
|
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
|
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)
|
rs1138465
|
0.41848
|
|
NM_000135.4(FANCA):c.1226-20A>G
|
rs1800330
|
0.41702
|
|
NM_000135.4(FANCA):c.3240-42G>A
|
rs1800345
|
0.40844
|
|
NM_000135.4(FANCA):c.2151+8T>C
|
rs1800340
|
0.40536
|
|
NM_001113525.2(ZNF276):c.*1323G>A
|
rs1061646
|
0.40513
|
|
NM_001113378.2(FANCI):c.3006+15A>C
|
rs2159081
|
0.37877
|
|
NM_001113378.2(FANCI):c.545+19C>T
|
rs1981623
|
0.37220
|
|
NM_004629.2(FANCG):c.1636+7A>G
|
rs587118
|
0.35683
|
|
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val)
|
rs17803620
|
0.31885
|
|
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser)
|
rs2283432
|
0.29667
|
|
NM_001018115.3(FANCD2):c.3849+13A>G
|
rs9811771
|
0.25616
|
|
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=)
|
rs2272125
|
0.24889
|
|
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)
|
rs1799801
|
0.24619
|
|
NM_001018115.3(FANCD2):c.784-19C>T
|
rs9879080
|
0.23357
|
|
NM_005236.3(ERCC4):c.207+11G>A
|
rs762521
|
0.22979
|
|
NM_032444.4(SLX4):c.753G>A (p.Ala251=)
|
rs8061528
|
0.21914
|
|
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu)
|
rs714181
|
0.20566
|
|
NM_001018115.3(FANCD2):c.695+16G>C
|
rs17032283
|
0.20237
|
|
NM_001018115.3(FANCD2):c.439-16A>G
|
rs17032278
|
0.20185
|
|
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)
|
rs34046352
|
0.19892
|
|
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu)
|
rs1367580
|
0.19378
|
|
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)
|
rs3864017
|
0.19295
|
|
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe)
|
rs10138997
|
0.16789
|
|
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)
|
rs9462088
|
0.14730
|
|
NM_021922.3(FANCE):c.1316+19G>A
|
rs6457823
|
0.14669
|
|
NM_001011.4(RPS7):c.508-12C>A
|
rs2071639
|
0.12923
|
|
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)
|
rs1800358
|
0.12784
|
|
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)
|
rs11649210
|
0.11105
|
|
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala)
|
rs3736772
|
0.08766
|
|
NM_032444.4(SLX4):c.1366+11T>C
|
rs76350200
|
0.08654
|
|
NM_001029.5(RPS26):c.327T>A (p.Arg109=)
|
rs56696262
|
0.08189
|
|
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val)
|
rs78211950
|
0.08024
|
|
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr)
|
rs59939128
|
0.07918
|
|
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser)
|
rs77985244
|
0.07388
|
|
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=)
|
rs11857960
|
0.07285
|
|
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu)
|
rs35875311
|
0.07245
|
|
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys)
|
rs79842542
|
0.07023
|
|
NM_000135.4(FANCA):c.1143G>T (p.Thr381=)
|
rs1800331
|
0.06866
|
|
NM_033022.4(RPS24):c.391-3C>A
|
rs7899453
|
0.06807
|
|
NM_000135.4(FANCA):c.17T>A (p.Val6Asp)
|
rs1800282
|
0.06490
|
|
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys)
|
rs74319927
|
0.06397
|
|
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)
|
rs2020955
|
0.06391
|
|
NM_032444.4(SLX4):c.1152A>G (p.Pro384=)
|
rs112511042
|
0.06386
|
|
NM_032444.4(SLX4):c.1156A>G (p.Met386Val)
|
rs113490934
|
0.06384
|
|
NM_000135.4(FANCA):c.894-8A>G
|
rs11648881
|
0.06110
|
|
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala)
|
rs17232910
|
0.05919
|
|
NM_000135.4(FANCA):c.2779-7T>C
|
rs17233253
|
0.05872
|
|
NM_000135.4(FANCA):c.2901C>T (p.Ser967=)
|
rs17226980
|
0.05869
|
|
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
|
rs9282681
|
0.05868
|
|
NM_000135.4(FANCA):c.3067-4T>C
|
rs17227064
|
0.05860
|
|
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)
|
rs11646374
|
0.05837
|
|
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)
|
rs41309679
|
0.05446
|
|
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)
|
rs1800067
|
0.05364
|
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
|
NM_032444.4(SLX4):c.555C>T (p.Asp185=)
|
rs74640850
|
0.04956
|
|
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val)
|
rs78637028
|
0.04932
|
|
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val)
|
rs3827530
|
0.04930
|
|
NM_032444.4(SLX4):c.678C>T (p.His226=)
|
rs28516461
|
0.04916
|
|
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe)
|
rs3810813
|
0.04718
|
|
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu)
|
rs62020347
|
0.04602
|
|
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)
|
rs76275444
|
0.04436
|
|
NM_001113378.2(FANCI):c.2547A>G (p.Lys849=)
|
rs7183618
|
0.04152
|
|
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)
|
rs7761870
|
0.03770
|
|
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=)
|
rs76488917
|
0.03405
|
|
NM_000135.4(FANCA):c.1941G>A (p.Glu647=)
|
rs17232917
|
0.03300
|
|
NM_001113378.2(FANCI):c.1294-8C>T
|
rs16942931
|
0.03299
|
|
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=)
|
rs16942969
|
0.03295
|
|
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)
|
rs4986939
|
0.03269
|
|
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)
|
rs35594075
|
0.03203
|
|
NM_020937.4(FANCM):c.2670T>C (p.Phe890=)
|
rs8017226
|
0.03114
|
|
NM_032043.3(BRIP1):c.94-18T>G
|
rs2138005
|
0.03086
|
|
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=)
|
rs8018014
|
0.03012
|
|
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=)
|
rs6785756
|
0.03005
|
|
NM_000135.4(FANCA):c.1360-7C>T
|
rs17232616
|
0.03003
|
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
|
NM_000135.4(FANCA):c.3348+18A>G
|
rs1800347
|
0.02828
|
|
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)
|
rs9809716
|
0.02768
|
|
NM_001018115.3(FANCD2):c.64+12G>C
|
rs9833228
|
0.02661
|
|
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)
|
rs17227354
|
0.02526
|
|
NM_000975.5(RPL11):c.339C>T (p.Ile113=)
|
rs8880
|
0.02525
|
|
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
|
rs36070315
|
0.02463
|
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
|
NM_021922.3(FANCE):c.1071C>T (p.Leu357=)
|
rs3823434
|
0.02388
|
|
NM_001113378.2(FANCI):c.3816+15A>T
|
rs28493988
|
0.02368
|
|
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=)
|
rs77699867
|
0.02290
|
|
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)
|
rs35495399
|
0.02285
|
|
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=)
|
rs78635099
|
0.02283
|
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
|
NM_000969.5(RPL5):c.165G>A (p.Val55=)
|
rs58263806
|
0.02253
|
|
NM_001014.5(RPS10):c.401-18C>T
|
rs41269040
|
0.02247
|
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
|
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser)
|
rs45604036
|
0.02192
|
|
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser)
|
rs45557033
|
0.02173
|
|
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)
|
rs35173688
|
0.02009
|
|
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala)
|
rs61746895
|
0.01981
|
|
NM_022725.4(FANCF):c.825G>A (p.Leu275=)
|
rs36045913
|
0.01879
|
|
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)
|
rs114014006
|
0.01879
|
|
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)
|
rs17225943
|
0.01851
|
|
NM_001113378.2(FANCI):c.3651+19G>A
|
rs73472624
|
0.01789
|
|
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile)
|
rs76788798
|
0.01679
|
|
NM_001113378.2(FANCI):c.868G>A (p.Val290Met)
|
rs113772230
|
0.01634
|
|
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile)
|
rs61746943
|
0.01614
|
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
|
NM_005236.3(ERCC4):c.33C>T (p.Ala11=)
|
rs3136042
|
0.01420
|
|
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=)
|
rs2020958
|
0.01408
|
|
NM_018062.4(FANCL):c.1077T>C (p.Cys359=)
|
rs11539575
|
0.01385
|
|
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn)
|
rs112596894
|
0.01345
|
|
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=)
|
rs34557339
|
0.01219
|
|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)
|
rs1800124
|
0.01216
|
|
NM_058216.3(RAD51C):c.90G>A (p.Ala30=)
|
rs115414895
|
0.01193
|
|
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)
|
rs45451294
|
0.01158
|
|
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser)
|
rs61753893
|
0.01090
|
|
NM_020937.4(FANCM):c.624A>G (p.Ile208Met)
|
rs45547534
|
0.01077
|
|
NM_022725.4(FANCF):c.624G>T (p.Ala208=)
|
rs7103674
|
0.01048
|
|
NM_001113525.2(ZNF276):c.*1316C>T
|
rs9282680
|
0.01028
|
|
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)
|
rs16963255
|
0.01026
|
|
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=)
|
rs77718962
|
0.00998
|
|
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr)
|
rs75182789
|
0.00995
|
|
NM_032444.4(SLX4):c.999C>T (p.Ile333=)
|
rs7198338
|
0.00974
|
|
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr)
|
rs115694169
|
0.00968
|
|
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser)
|
rs79448721
|
0.00968
|
|
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=)
|
rs55856815
|
0.00952
|
|
NM_005236.3(ERCC4):c.252C>T (p.Leu84=)
|
rs3136056
|
0.00941
|
|
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln)
|
rs79174372
|
0.00921
|
|
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=)
|
rs7142192
|
0.00916
|
|
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser)
|
rs116519044
|
0.00914
|
|
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)
|
rs144917960
|
0.00895
|
|
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)
|
rs55980657
|
0.00869
|
|
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr)
|
rs79343837
|
0.00864
|
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
|
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)
|
rs138615800
|
0.00848
|
|
NM_022725.4(FANCF):c.96C>T (p.Arg32=)
|
rs151253274
|
0.00838
|
|
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=)
|
rs111894696
|
0.00835
|
|
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val)
|
rs143662421
|
0.00824
|
|
NM_000136.3(FANCC):c.1330-3C>T
|
rs4647542
|
0.00811
|
|
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp)
|
rs1056085
|
0.00810
|
|
NM_020937.4(FANCM):c.2445G>A (p.Ser815=)
|
rs61745871
|
0.00791
|
|
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys)
|
rs143818824
|
0.00776
|
|
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=)
|
rs116781836
|
0.00774
|
|
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=)
|
rs34405660
|
0.00772
|
|
NM_001018115.3(FANCD2):c.3105+15C>T
|
rs460965
|
0.00770
|
|
NM_022725.4(FANCF):c.387C>T (p.Leu129=)
|
rs45556032
|
0.00759
|
|
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)
|
rs36084488
|
0.00738
|
|
NM_033022.4(RPS24):c.177A>G (p.Gly59=)
|
rs6496
|
0.00736
|
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
|
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=)
|
rs2020953
|
0.00706
|
|
NM_001018113.3(FANCB):c.402A>G (p.Leu134=)
|
rs147260208
|
0.00701
|
|
NM_032444.4(SLX4):c.1924+19C>A
|
rs113075119
|
0.00694
|
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
|
NM_032444.4(SLX4):c.1803G>A (p.Ser601=)
|
rs144892556
|
0.00649
|
|
NM_032444.4(SLX4):c.1755C>T (p.Pro585=)
|
rs114016359
|
0.00638
|
|
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)
|
rs114810692
|
0.00625
|
|
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)
|
rs2020957
|
0.00625
|
|
NM_032444.4(SLX4):c.90C>T (p.Ser30=)
|
rs118089506
|
0.00612
|
|
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)
|
rs61752920
|
0.00605
|
|
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)
|
rs34592408
|
0.00601
|
|
NM_022725.4(FANCF):c.557C>T (p.Ala186Val)
|
rs113910234
|
0.00595
|
|
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)
|
rs111738042
|
0.00575
|
|
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)
|
rs11540832
|
0.00574
|
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
|
NM_000135.4(FANCA):c.1359+10C>T
|
rs34159559
|
0.00557
|
|
NM_000135.4(FANCA):c.1826+12C>T
|
rs183513839
|
0.00518
|
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
|
NM_000135.4(FANCA):c.21G>T (p.Pro7=)
|
rs115856189
|
0.00509
|
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
|
NM_001113378.2(FANCI):c.1699-7C>A
|
rs28446881
|
0.00498
|
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
|
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp)
|
rs114744903
|
0.00474
|
|
NM_000969.5(RPL5):c.258T>C (p.Tyr86=)
|
rs113792800
|
0.00472
|
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
|
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys)
|
rs28378332
|
0.00462
|
|
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)
|
rs145522204
|
0.00460
|
|
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=)
|
rs34462132
|
0.00456
|
|
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys)
|
rs61730251
|
0.00456
|
|
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val)
|
rs149125003
|
0.00450
|
|
NM_022725.4(FANCF):c.883G>A (p.Val295Ile)
|
rs7103293
|
0.00448
|
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
|
NM_021922.3(FANCE):c.1572G>A (p.Arg524=)
|
rs115195341
|
0.00429
|
|
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)
|
rs150547487
|
0.00416
|
|
NM_000136.3(FANCC):c.-79+5G>A
|
rs4647350
|
0.00411
|
|
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)
|
rs114077770
|
0.00403
|
|
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)
|
rs79080874
|
0.00400
|
|
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys)
|
rs77532752
|
0.00398
|
|
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=)
|
rs115491049
|
0.00396
|
|
NM_032444.4(SLX4):c.336G>A (p.Pro112=)
|
rs79126454
|
0.00393
|
|
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser)
|
rs79685648
|
0.00388
|
|
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp)
|
rs113986680
|
0.00382
|
|
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser)
|
rs78770603
|
0.00380
|
|
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)
|
rs77374493
|
0.00371
|
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
|
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser)
|
rs7196345
|
0.00363
|
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
|
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)
|
rs149731356
|
0.00355
|
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
|
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu)
|
rs59706816
|
0.00333
|
|
NM_000975.5(RPL11):c.158-18G>C
|
rs115017937
|
0.00330
|
|
NM_004629.2(FANCG):c.238C>T (p.Leu80=)
|
rs115131067
|
0.00330
|
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
|
NM_022725.4(FANCF):c.199A>C (p.Arg67=)
|
rs146647469
|
0.00325
|
|
NM_000135.4(FANCA):c.1626+16C>T
|
rs1800333
|
0.00322
|
|
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=)
|
rs11556721
|
0.00322
|
|
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)
|
rs55849827
|
0.00322
|
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
|
NM_020937.4(FANCM):c.2190A>G (p.Gln730=)
|
rs117392855
|
0.00320
|
|
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=)
|
rs142667852
|
0.00318
|
|
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val)
|
rs34557223
|
0.00316
|
|
NM_020937.4(FANCM):c.4222+7T>G
|
rs148675704
|
0.00316
|
|
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu)
|
rs140892471
|
0.00307
|
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
|
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)
|
rs13336566
|
0.00303
|
|
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)
|
rs149011965
|
0.00302
|
|
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=)
|
rs113831595
|
0.00300
|
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
|
NM_005236.3(ERCC4):c.2724C>T (p.Val908=)
|
rs3136225
|
0.00290
|
|
NM_001022.4(RPS19):c.411+12G>A
|
rs61762296
|
0.00287
|
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
|
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys)
|
rs61757385
|
0.00285
|
|
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)
|
rs55773634
|
0.00282
|
|
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
|
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val)
|
rs148871932
|
0.00268
|
|
NM_000969.5(RPL5):c.325-4A>G
|
rs183825489
|
0.00267
|
|
NM_033022.4(RPS24):c.168T>C (p.Phe56=)
|
rs57866839
|
0.00267
|
|
NM_001113378.2(FANCI):c.3255+6dup
|
rs878854178
|
0.00258
|
|
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)
|
rs17232973
|
0.00257
|
|
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)
|
rs139814895
|
0.00257
|
|
NM_002049.4(GATA1):c.1173G>A (p.Thr391=)
|
rs61735969
|
0.00256
|
|
NM_021922.3(FANCE):c.248+7C>A
|
rs186563531
|
0.00255
|
|
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=)
|
rs113819179
|
0.00254
|
|
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
|
rs4986933
|
0.00253
|
|
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp)
|
rs118031800
|
0.00251
|
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
|
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)
|
rs151071546
|
0.00243
|
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
|
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)
|
rs3743377
|
0.00228
|
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
|
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)
|
rs151105762
|
0.00218
|
|
NM_005236.3(ERCC4):c.1812-5T>C
|
rs2020952
|
0.00215
|
|
NM_022725.4(FANCF):c.786A>G (p.Leu262=)
|
rs11026706
|
0.00215
|
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
|
NM_001014.5(RPS10):c.408C>T (p.Ala136=)
|
rs147566753
|
0.00213
|
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
|
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)
|
rs146601373
|
0.00201
|
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
|
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln)
|
rs145244860
|
0.00199
|
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
|
NM_001113378.2(FANCI):c.2447C>G (p.Ala816Gly)
|
rs151178507
|
0.00188
|
|
NM_032444.4(SLX4):c.2328-9G>C
|
rs73505419
|
0.00188
|
|
NM_022725.4(FANCF):c.246C>T (p.Asn82=)
|
rs139724351
|
0.00185
|
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
|
NM_000975.5(RPL11):c.7-20G>T
|
rs142110379
|
0.00180
|
|
NM_001018115.3(FANCD2):c.4281+115C>A
|
rs78896323
|
0.00179
|
|
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=)
|
rs142333130
|
0.00178
|
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
|
NM_020937.4(FANCM):c.491A>C (p.His164Pro)
|
rs144278051
|
0.00176
|
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
|
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)
|
rs140088149
|
0.00173
|
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
|
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)
|
rs17227071
|
0.00172
|
|
NM_000969.5(RPL5):c.325-11T>G
|
rs145058455
|
0.00169
|
|
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)
|
rs138013482
|
0.00166
|
|
NM_000135.4(FANCA):c.1360-10C>G
|
rs150836356
|
0.00165
|
|
NM_000969.5(RPL5):c.3+13C>T
|
rs189107197
|
0.00165
|
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
|
NM_001018115.3(FANCD2):c.3560+20C>T
|
rs55804542
|
0.00162
|
|
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)
|
rs142007602
|
0.00161
|
|
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn)
|
rs111944585
|
0.00158
|
|
NM_018062.4(FANCL):c.817T>C (p.Leu273=)
|
rs61753272
|
0.00156
|
|
NM_000136.3(FANCC):c.-29A>C
|
rs4647414
|
0.00155
|
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
|
NM_000136.3(FANCC):c.840G>A (p.Ser280=)
|
rs34671520
|
0.00154
|
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
|
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)
|
rs114549781
|
0.00150
|
|
NM_032444.4(SLX4):c.3109T>C (p.Leu1037=)
|
rs58735123
|
0.00148
|
|
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn)
|
rs145192583
|
0.00147
|
|
NM_020937.4(FANCM):c.1041G>A (p.Pro347=)
|
rs140998495
|
0.00147
|
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
|
NM_001022.4(RPS19):c.72-92A>G
|
rs566047445
|
0.00146
|
|
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)
|
rs140051968
|
0.00141
|
|
NM_004629.2(FANCG):c.646+12A>G
|
rs17878604
|
0.00139
|
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
|
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)
|
rs140823801
|
0.00137
|
|
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
|
NM_032444.4(SLX4):c.422G>T (p.Gly141Val)
|
rs77306735
|
0.00131
|
|
NM_020937.4(FANCM):c.2268C>A (p.Arg756=)
|
rs146061601
|
0.00128
|
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
|
NM_001014.5(RPS10):c.231G>A (p.Gln77=)
|
rs147863199
|
0.00125
|
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
|
NM_001113378.2(FANCI):c.3925-14C>G
|
rs148365638
|
0.00124
|
|
NM_001113378.2(FANCI):c.753C>T (p.Asp251=)
|
rs151169233
|
0.00124
|
|
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala)
|
rs149803148
|
0.00121
|
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
|
NM_020937.4(FANCM):c.4147T>G (p.Tyr1383Asp)
|
rs144104545
|
0.00118
|
|
NM_000135.4(FANCA):c.115A>C (p.Arg39=)
|
rs17232091
|
0.00116
|
|
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)
|
rs143936557
|
0.00115
|
|
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)
|
rs147826749
|
0.00115
|
|
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)
|
rs142008398
|
0.00114
|
|
NM_033022.4(RPS24):c.363A>G (p.Ala121=)
|
rs139181869
|
0.00114
|
|
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly)
|
rs116736407
|
0.00113
|
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
|
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=)
|
rs150097733
|
0.00112
|
|
NM_058216.3(RAD51C):c.837+13T>C
|
rs188613030
|
0.00112
|
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
|
NM_018062.4(FANCL):c.402T>C (p.Ser134=)
|
rs145284589
|
0.00110
|
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
|
NM_002049.4(GATA1):c.201G>A (p.Glu67=)
|
rs61753429
|
0.00109
|
|
NM_001022.4(RPS19):c.60C>G (p.Ala20=)
|
rs149249194
|
0.00108
|
|
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)
|
rs148791570
|
0.00107
|
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
|
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)
|
rs149097636
|
0.00098
|
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
|
NM_020937.4(FANCM):c.1397-12A>G
|
rs560956489
|
0.00092
|
|
NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr)
|
rs115866745
|
0.00092
|
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
|
NM_005236.3(ERCC4):c.974-6T>C
|
rs201181735
|
0.00091
|
|
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala)
|
rs143006771
|
0.00091
|
|
NM_000135.4(FANCA):c.237C>T (p.Asp79=)
|
rs144151341
|
0.00089
|
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
|
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
|
rs138225703
|
0.00086
|
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
|
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
0.00083
|
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
|
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu)
|
rs45600543
|
0.00083
|
|
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
|
rs1800068
|
0.00082
|
|
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser)
|
rs147128920
|
0.00081
|
|
NM_032043.3(BRIP1):c.2257+19A>C
|
rs77851913
|
0.00079
|
|
NM_021922.3(FANCE):c.522G>A (p.Gly174=)
|
rs145648734
|
0.00078
|
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
|
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu)
|
rs117707719
|
0.00078
|
|
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)
|
rs144832924
|
0.00078
|
|
NM_000135.4(FANCA):c.2391G>A (p.Ala797=)
|
rs147882314
|
0.00076
|
|
NM_000975.5(RPL11):c.30C>T (p.Asn10=)
|
rs139286202
|
0.00076
|
|
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met)
|
rs61744648
|
0.00076
|
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
|
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)
|
rs149531696
|
0.00072
|
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
|
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala)
|
rs34936017
|
0.00070
|
|
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)
|
rs149927607
|
0.00070
|
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
|
NM_001018115.3(FANCD2):c.2269+12A>G
|
rs34751191
|
0.00067
|
|
NM_020937.4(FANCM):c.990A>G (p.Thr330=)
|
rs138677111
|
0.00066
|
|
NM_032444.4(SLX4):c.2667A>G (p.Gln889=)
|
rs146790631
|
0.00066
|
|
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=)
|
rs144776083
|
0.00065
|
|
NM_000135.4(FANCA):c.2364C>T (p.Ala788=)
|
rs149754397
|
0.00064
|
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
|
NM_001014.5(RPS10):c.6G>A (p.Leu2=)
|
rs146246722
|
0.00063
|
|
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=)
|
rs181219364
|
0.00063
|
|
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val)
|
rs147675860
|
0.00063
|
|
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)
|
rs149243307
|
0.00063
|
|
NM_000135.4(FANCA):c.1537T>C (p.Leu513=)
|
rs144118098
|
0.00062
|
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
|
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)
|
rs587778335
|
0.00061
|
|
NM_032444.4(SLX4):c.339T>C (p.Ser113=)
|
rs144326379
|
0.00061
|
|
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)
|
rs139406689
|
0.00060
|
|
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln)
|
rs45467798
|
0.00060
|
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
|
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)
|
rs144273492
|
0.00059
|
|
NM_000975.5(RPL11):c.396+9A>G
|
rs201786327
|
0.00058
|
|
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg)
|
rs142101123
|
0.00058
|
|
NM_001113378.2(FANCI):c.1584-15C>G
|
rs199531931
|
0.00058
|
|
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val)
|
rs139383231
|
0.00058
|
|
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)
|
rs138398760
|
0.00057
|
|
NM_001113378.2(FANCI):c.1698+16G>A
|
rs142941067
|
0.00057
|
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
|
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser)
|
rs149055327
|
0.00056
|
|
NM_001018115.3(FANCD2):c.205+9T>G
|
rs34113138
|
0.00056
|
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
|
NM_020937.4(FANCM):c.4673-12A>G
|
rs373163994
|
0.00055
|
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
|
NM_000135.4(FANCA):c.1047G>A (p.Ala349=)
|
rs144900606
|
0.00053
|
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
|
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His)
|
rs140198444
|
0.00053
|
|
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)
|
rs118138806
|
0.00053
|
|
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala)
|
rs146325649
|
0.00053
|
|
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly)
|
rs139946652
|
0.00053
|
|
NM_032444.4(SLX4):c.2844G>A (p.Ala948=)
|
rs376877866
|
0.00053
|
|
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)
|
rs141141752
|
0.00052
|
|
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly)
|
rs140499872
|
0.00052
|
|
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)
|
rs145533919
|
0.00052
|
|
NM_000135.4(FANCA):c.893+19C>G
|
rs377406711
|
0.00051
|
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
|
NM_000987.5(RPL26):c.168+17G>A
|
rs368557278
|
0.00051
|
|
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly)
|
rs61744917
|
0.00051
|
|
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)
|
rs140534765
|
0.00051
|
|
NM_020937.4(FANCM):c.5067G>A (p.Ala1689=)
|
rs148900115
|
0.00051
|
|
NM_022725.4(FANCF):c.385C>G (p.Leu129Val)
|
rs61753271
|
0.00051
|
|
NM_032043.3(BRIP1):c.1935+11G>A
|
rs79121306
|
0.00051
|
|
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=)
|
rs140844106
|
0.00051
|
|
NM_001113525.2(ZNF276):c.*470A>C
|
rs372268907
|
0.00049
|
|
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met)
|
rs144008013
|
0.00049
|
|
NM_022725.4(FANCF):c.672C>T (p.Pro224=)
|
rs148955347
|
0.00049
|
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
|
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)
|
rs140452766
|
0.00048
|
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
|
NM_001018113.3(FANCB):c.69T>C (p.Leu23=)
|
rs151173533
|
0.00047
|
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
|
NM_001018115.3(FANCD2):c.4038+8G>A
|
rs190990145
|
0.00047
|
|
NM_020937.4(FANCM):c.1551G>A (p.Thr517=)
|
rs139535827
|
0.00047
|
|
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=)
|
rs61749475
|
0.00047
|
|
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)
|
rs200742809
|
0.00047
|
|
NM_058216.3(RAD51C):c.706-18T>C
|
rs56401264
|
0.00047
|
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
|
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)
|
rs142304943
|
0.00046
|
|
NM_020937.4(FANCM):c.159C>T (p.Asp53=)
|
rs147559750
|
0.00046
|
|
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln)
|
rs138151018
|
0.00046
|
|
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met)
|
rs145353518
|
0.00046
|
|
NM_000969.5(RPL5):c.423C>T (p.Ala141=)
|
rs138277390
|
0.00045
|
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
|
NM_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
0.00045
|
|
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg)
|
rs139865448
|
0.00045
|
|
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu)
|
rs148304968
|
0.00044
|
|
NM_032444.4(SLX4):c.1707G>A (p.Pro569=)
|
rs141687678
|
0.00044
|
|
NM_032444.4(SLX4):c.4658A>T (p.Asn1553Ile)
|
rs150460384
|
0.00044
|
|
NM_000135.4(FANCA):c.3408+9C>G
|
rs377702890
|
0.00043
|
|
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val)
|
rs150544323
|
0.00043
|
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
|
NM_032444.4(SLX4):c.4099G>A (p.Ala1367Thr)
|
rs17136464
|
0.00043
|
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
|
NM_000996.4(RPL35A):c.165-16C>A
|
rs373782117
|
0.00041
|
|
NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn)
|
rs199895244
|
0.00041
|
|
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala)
|
rs142747831
|
0.00041
|
|
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu)
|
rs150216454
|
0.00041
|
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
|
NM_000969.5(RPL5):c.3+12C>T
|
rs200130961
|
0.00040
|
|
NM_032444.4(SLX4):c.2160+18C>T
|
rs373726275
|
0.00040
|
|
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)
|
rs146157131
|
0.00039
|
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
|
NM_020937.4(FANCM):c.2127G>A (p.Gln709=)
|
rs141452622
|
0.00039
|
|
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser)
|
rs201382399
|
0.00039
|
|
NM_033022.4(RPS24):c.378T>G (p.Gly126=)
|
rs151246531
|
0.00039
|
|
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)
|
rs56394801
|
0.00038
|
|
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)
|
rs143976596
|
0.00038
|
|
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)
|
rs143131218
|
0.00038
|
|
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)
|
rs138663330
|
0.00038
|
|
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)
|
rs138532294
|
0.00038
|
|
NM_032444.4(SLX4):c.231A>G (p.Gln77=)
|
rs143279888
|
0.00038
|
|
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)
|
rs144614070
|
0.00038
|
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
|
NM_000136.3(FANCC):c.457-18A>G
|
rs377206543
|
0.00036
|
|
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)
|
rs147255018
|
0.00036
|
|
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
|
rs146509445
|
0.00036
|
|
NM_001113378.2(FANCI):c.1992+10T>C
|
rs375345390
|
0.00036
|
|
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)
|
rs201926295
|
0.00036
|
|
NM_018062.4(FANCL):c.534A>G (p.Thr178=)
|
rs151181785
|
0.00036
|
|
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
|
NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val)
|
rs566584111
|
0.00036
|
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
|
NM_000135.4(FANCA):c.543G>A (p.Ala181=)
|
rs143314367
|
0.00035
|
|
NM_000975.5(RPL11):c.171C>G (p.Val57=)
|
rs149087936
|
0.00035
|
|
NM_000135.4(FANCA):c.1827-19T>C
|
rs370677007
|
0.00034
|
|
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)
|
rs371915501
|
0.00034
|
|
NM_001018115.3(FANCD2):c.3466+10C>T
|
rs200208121
|
0.00034
|
|
NM_001113378.2(FANCI):c.2291+12C>G
|
rs369540539
|
0.00034
|
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
|
NM_022725.4(FANCF):c.91G>A (p.Val31Met)
|
rs11556562
|
0.00034
|
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
|
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)
|
rs138484365
|
0.00034
|
|
NM_058216.3(RAD51C):c.571+16A>G
|
rs141621051
|
0.00034
|
|
NM_000136.3(FANCC):c.*5C>T
|
rs117175949
|
0.00033
|
|
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=)
|
rs116615540
|
0.00033
|
|
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)
|
rs141591400
|
0.00033
|
|
NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu)
|
rs138461165
|
0.00032
|
|
NM_018062.4(FANCL):c.546C>T (p.Ser182=)
|
rs200679501
|
0.00032
|
|
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu)
|
rs142904668
|
0.00032
|
|
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)
|
rs45524646
|
0.00032
|
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
|
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys)
|
rs747865842
|
0.00031
|
|
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met)
|
rs201436396
|
0.00031
|
|
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)
|
rs147426418
|
0.00031
|
|
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr)
|
rs139181400
|
0.00031
|
|
NM_002049.4(GATA1):c.113C>T (p.Pro38Leu)
|
rs372131208
|
0.00031
|
|
NM_002049.4(GATA1):c.174G>A (p.Ala58=)
|
rs139614533
|
0.00031
|
|
NM_004629.2(FANCG):c.794C>T (p.Ala265Val)
|
rs764992007
|
0.00031
|
|
NM_032444.4(SLX4):c.1470C>T (p.Leu490=)
|
rs139766312
|
0.00031
|
|
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
|
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr)
|
rs144647122
|
0.00031
|
|
NM_000135.4(FANCA):c.1225+12C>T
|
rs200672872
|
0.00030
|
|
NM_000135.4(FANCA):c.1716-20T>C
|
rs367726674
|
0.00030
|
|
NM_000135.4(FANCA):c.2478G>A (p.Thr826=)
|
rs147283549
|
0.00030
|
|
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=)
|
rs141128234
|
0.00030
|
|
NM_000969.5(RPL5):c.324+14G>T
|
rs200772479
|
0.00030
|
|
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)
|
rs143558209
|
0.00030
|
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
|
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)
|
rs149435806
|
0.00029
|
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
|
NM_001018113.3(FANCB):c.1371C>T (p.Val457=)
|
rs149695930
|
0.00029
|
|
NM_001018115.3(FANCD2):c.1134+8T>G
|
rs373232961
|
0.00029
|
|
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=)
|
rs373461068
|
0.00029
|
|
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)
|
rs61751578
|
0.00029
|
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
|
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys)
|
rs146151355
|
0.00029
|
|
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr)
|
rs749920386
|
0.00029
|
|
NM_032444.4(SLX4):c.2210G>A (p.Arg737His)
|
rs146901714
|
0.00029
|
|
NM_032444.4(SLX4):c.3663G>A (p.Ala1221=)
|
rs760656992
|
0.00029
|
|
NM_000135.4(FANCA):c.801T>C (p.Val267=)
|
rs55660936
|
0.00028
|
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
|
NM_001014.5(RPS10):c.444C>T (p.Thr148=)
|
rs149897629
|
0.00028
|
|
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)
|
rs149223439
|
0.00028
|
|
NM_002049.4(GATA1):c.158C>A (p.Ala53Asp)
|
rs142614402
|
0.00028
|
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
|
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)
|
rs753304968
|
0.00028
|
|
NM_000136.3(FANCC):c.166-7T>C
|
rs369052148
|
0.00027
|
|
NM_001113378.2(FANCI):c.528A>G (p.Gln176=)
|
rs145939211
|
0.00027
|
|
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
|
rs145315496
|
0.00027
|
|
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)
|
rs200360968
|
0.00027
|
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
|
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser)
|
rs144332316
|
0.00026
|
|
NM_001018115.3(FANCD2):c.1766+16C>T
|
rs201040143
|
0.00026
|
|
NM_001113378.2(FANCI):c.1822-18C>T
|
rs373603139
|
0.00026
|
|
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn)
|
rs148017562
|
0.00026
|
|
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys)
|
rs146065064
|
0.00026
|
|
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)
|
rs758238449
|
0.00026
|
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
|
NM_032444.4(SLX4):c.86G>A (p.Arg29His)
|
rs149117119
|
0.00026
|
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
|
NM_000135.4(FANCA):c.399C>T (p.His133=)
|
rs56190097
|
0.00025
|
|
NM_000975.5(RPL11):c.153C>T (p.Ser51=)
|
rs80133698
|
0.00025
|
|
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)
|
rs376349741
|
0.00025
|
|
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln)
|
rs141729590
|
0.00025
|
|
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)
|
rs991748781
|
0.00025
|
|
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp)
|
rs556217576
|
0.00025
|
|
NM_033022.4(RPS24):c.306C>T (p.Thr102=)
|
rs558975561
|
0.00025
|
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
|
NM_000969.5(RPL5):c.408T>C (p.Asp136=)
|
rs142297836
|
0.00024
|
|
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)
|
rs192743430
|
0.00024
|
|
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)
|
rs372574627
|
0.00024
|
|
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
|
rs201037656
|
0.00024
|
|
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)
|
rs148933357
|
0.00024
|
|
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile)
|
rs148154311
|
0.00024
|
|
NM_022725.4(FANCF):c.153T>A (p.His51Gln)
|
rs142247452
|
0.00024
|
|
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)
|
rs146219377
|
0.00024
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
|
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu)
|
rs372128800
|
0.00024
|
|
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile)
|
rs147315419
|
0.00024
|
|
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)
|
rs148547201
|
0.00024
|
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
|
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=)
|
rs560600678
|
0.00023
|
|
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=)
|
rs145953386
|
0.00023
|
|
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=)
|
rs374019283
|
0.00023
|
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
|
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)
|
rs143772894
|
0.00022
|
|
NM_000975.5(RPL11):c.102G>A (p.Thr34=)
|
rs199772693
|
0.00022
|
|
NM_001018115.3(FANCD2):c.3654A>G (p.Ala1218=)
|
rs556548817
|
0.00022
|
|
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)
|
rs191202700
|
0.00022
|
|
NM_001113525.2(ZNF276):c.*1862C>T
|
rs776077648
|
0.00022
|
|
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp)
|
rs201884798
|
0.00022
|
|
NM_018062.4(FANCL):c.155+9G>C
|
rs370392756
|
0.00022
|
|
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro)
|
rs192534185
|
0.00022
|
|
NM_032444.4(SLX4):c.1065G>A (p.Gln355=)
|
rs200183071
|
0.00022
|
|
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)
|
rs202107465
|
0.00021
|
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
|
NM_000975.5(RPL11):c.397-4A>G
|
rs371228733
|
0.00021
|
|
NM_001018115.3(FANCD2):c.696-18T>G
|
rs56083801
|
0.00021
|
|
NM_001113378.2(FANCI):c.3006+11C>T
|
rs372049835
|
0.00021
|
|
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=)
|
rs138296474
|
0.00021
|
|
NM_005236.3(ERCC4):c.738G>A (p.Ser246=)
|
rs146650135
|
0.00021
|
|
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg)
|
rs146897650
|
0.00021
|
|
NM_021922.3(FANCE):c.1316+10C>T
|
rs200479051
|
0.00021
|
|
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)
|
rs950301098
|
0.00021
|
|
NM_021922.3(FANCE):c.970-16C>T
|
rs117779586
|
0.00021
|
|
NM_022725.4(FANCF):c.687A>T (p.Ser229=)
|
rs776140806
|
0.00021
|
|
NM_032043.3(BRIP1):c.852C>T (p.Val284=)
|
rs144940449
|
0.00021
|
|
NM_000136.3(FANCC):c.1407G>A (p.Thr469=)
|
rs79722116
|
0.00020
|
|
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)
|
rs199909156
|
0.00020
|
|
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
|
rs147873714
|
0.00020
|
|
NM_001113378.2(FANCI):c.1699-3C>G
|
rs372441627
|
0.00020
|
|
NM_020937.4(FANCM):c.2267G>A (p.Arg756His)
|
rs142763060
|
0.00020
|
|
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe)
|
rs139536545
|
0.00020
|
|
NM_020937.4(FANCM):c.504G>C (p.Met168Ile)
|
rs376316183
|
0.00020
|
|
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=)
|
rs138090463
|
0.00020
|
|
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
|
rs139547269
|
0.00020
|
|
NM_021922.3(FANCE):c.246G>A (p.Glu82=)
|
rs769779495
|
0.00020
|
|
NM_022725.4(FANCF):c.465A>T (p.Pro155=)
|
rs201215734
|
0.00020
|
|
NM_032444.4(SLX4):c.465A>G (p.Glu155=)
|
rs138512851
|
0.00020
|
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
|
NM_000135.4(FANCA):c.3912A>G (p.Ala1304=)
|
rs545021222
|
0.00019
|
|
NM_000136.3(FANCC):c.-79+7G>T
|
rs551170090
|
0.00019
|
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
|
NM_000136.3(FANCC):c.355_358del (p.Ser119fs)
|
rs750003253
|
0.00019
|
|
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)
|
rs200303151
|
0.00019
|
|
NM_001018113.3(FANCB):c.507T>C (p.Ser169=)
|
rs149609970
|
0.00019
|
|
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala)
|
rs139025231
|
0.00019
|
|
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
|
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro)
|
rs554876309
|
0.00019
|
|
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile)
|
rs142969866
|
0.00019
|
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
|
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
|
rs200649435
|
0.00019
|
|
NM_021922.3(FANCE):c.1114-4G>A
|
rs368422520
|
0.00019
|
|
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met)
|
rs147390386
|
0.00019
|
|
NM_022725.4(FANCF):c.21C>T (p.His7=)
|
rs199867555
|
0.00019
|
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
|
NM_032444.4(SLX4):c.1389A>G (p.Lys463=)
|
rs376668879
|
0.00019
|
|
NM_032444.4(SLX4):c.1499C>T (p.Thr500Met)
|
rs377440877
|
0.00019
|
|
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg)
|
rs544935776
|
0.00019
|
|
NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del)
|
rs199897550
|
0.00019
|
|
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val)
|
rs372921011
|
0.00019
|
|
NM_000969.5(RPL5):c.141C>T (p.Pro47=)
|
rs150375325
|
0.00018
|
|
NM_000987.5(RPL26):c.342C>T (p.Asp114=)
|
rs137965122
|
0.00018
|
|
NM_001018115.3(FANCD2):c.2142G>A (p.Pro714=)
|
rs372215382
|
0.00018
|
|
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)
|
rs140357734
|
0.00018
|
|
NM_002049.4(GATA1):c.942A>G (p.Lys314=)
|
rs150473615
|
0.00018
|
|
NM_004629.2(FANCG):c.1144-17T>G
|
rs367794913
|
0.00018
|
|
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)
|
rs143347563
|
0.00018
|
|
NM_005236.3(ERCC4):c.2018-18C>G
|
rs539818239
|
0.00018
|
|
NM_018062.4(FANCL):c.142C>G (p.Leu48Val)
|
rs148516173
|
0.00018
|
|
NM_018062.4(FANCL):c.580A>G (p.Ile194Val)
|
rs542006141
|
0.00018
|
|
NM_032444.4(SLX4):c.2079C>T (p.Val693=)
|
rs150206155
|
0.00018
|
|
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=)
|
rs142851654
|
0.00018
|
|
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu)
|
rs149362820
|
0.00018
|
|
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)
|
rs147176389
|
0.00017
|
|
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
|
rs146975341
|
0.00017
|
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
|
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile)
|
rs188375397
|
0.00017
|
|
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)
|
rs138274490
|
0.00017
|
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
|
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)
|
rs952309844
|
0.00017
|
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
|
NM_032444.4(SLX4):c.1809G>A (p.Ser603=)
|
rs565202250
|
0.00017
|
|
NM_032444.4(SLX4):c.316C>T (p.Pro106Ser)
|
rs534494633
|
0.00017
|
|
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp)
|
rs758789462
|
0.00017
|
|
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=)
|
rs142477564
|
0.00017
|
|
NM_033022.4(RPS24):c.90C>T (p.Pro30=)
|
rs372043585
|
0.00017
|
|
NM_058216.3(RAD51C):c.258A>T (p.Thr86=)
|
rs149228565
|
0.00017
|
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00017
|
|
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
|
rs151089298
|
0.00016
|
|
NM_000135.4(FANCA):c.1226-13G>C
|
rs377159744
|
0.00016
|
|
NM_000135.4(FANCA):c.2152-20T>A
|
rs200403206
|
0.00016
|
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
|
NM_000135.4(FANCA):c.3409-9C>G
|
rs368943794
|
0.00016
|
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
|
NM_000975.5(RPL11):c.213C>T (p.His71=)
|
rs562572818
|
0.00016
|
|
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=)
|
rs370078641
|
0.00016
|
|
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
|
rs372534421
|
0.00016
|
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)
|
rs375827113
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
|
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys)
|
rs200971205
|
0.00016
|
|
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg)
|
rs146040966
|
0.00016
|
|
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met)
|
rs374363189
|
0.00016
|
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
0.00016
|
|
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg)
|
rs555904350
|
0.00016
|
|
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=)
|
rs768378979
|
0.00016
|
|
NM_001113378.2(FANCI):c.882+15G>T
|
rs199522855
|
0.00016
|
|
NM_002049.4(GATA1):c.163G>A (p.Ala55Thr)
|
rs150572851
|
0.00016
|
|
NM_002049.4(GATA1):c.871-7T>C
|
rs371752832
|
0.00016
|
|
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)
|
rs2020960
|
0.00016
|
|
NM_018062.4(FANCL):c.387G>A (p.Ala129=)
|
rs141400460
|
0.00016
|
|
NM_018062.4(FANCL):c.97-11A>G
|
rs201875132
|
0.00016
|
|
NM_020937.4(FANCM):c.2003-3T>C
|
rs777799598
|
0.00016
|
|
NM_020937.4(FANCM):c.2518G>A (p.Val840Ile)
|
rs374402732
|
0.00016
|
|
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His)
|
rs201803784
|
0.00016
|
|
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe)
|
rs185230199
|
0.00016
|
|
NM_022725.4(FANCF):c.837A>G (p.Thr279=)
|
rs183269887
|
0.00016
|
|
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=)
|
rs145504336
|
0.00016
|
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
|
NM_032444.4(SLX4):c.2628C>T (p.Asp876=)
|
rs201279467
|
0.00016
|
|
NM_032444.4(SLX4):c.3758C>T (p.Thr1253Ile)
|
rs202148391
|
0.00016
|
|
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)
|
rs142040192
|
0.00016
|
|
NM_032444.4(SLX4):c.4033C>T (p.Arg1345Cys)
|
rs200310925
|
0.00016
|
|
NM_032444.4(SLX4):c.4649G>A (p.Arg1550Gln)
|
rs369852048
|
0.00016
|
|
NM_032444.4(SLX4):c.653G>C (p.Arg218Thr)
|
rs756079504
|
0.00016
|
|
NM_033022.4(RPS24):c.235C>T (p.Leu79=)
|
rs192994060
|
0.00016
|
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
|
NM_000135.4(FANCA):c.79+10C>T
|
rs573174362
|
0.00015
|
|
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly)
|
rs148257882
|
0.00015
|
|
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=)
|
rs745841768
|
0.00015
|
|
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val)
|
rs138587722
|
0.00015
|
|
NM_001018115.3(FANCD2):c.888+9T>C
|
rs777620616
|
0.00015
|
|
NM_001113378.2(FANCI):c.446-6T>G
|
rs377255054
|
0.00015
|
|
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu)
|
rs149348098
|
0.00015
|
|
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr)
|
rs376197752
|
0.00015
|
|
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=)
|
rs183029626
|
0.00015
|
|
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)
|
rs745421287
|
0.00015
|
|
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=)
|
rs577770118
|
0.00015
|
|
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)
|
rs138618354
|
0.00015
|
|
NM_033022.4(RPS24):c.189T>C (p.His63=)
|
rs201805132
|
0.00015
|
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
|
NM_000135.4(FANCA):c.3240-11C>G
|
rs138826926
|
0.00014
|
|
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr)
|
rs754552650
|
0.00014
|
|
NM_001018113.3(FANCB):c.960T>G (p.Ala320=)
|
rs139045247
|
0.00014
|
|
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
|
rs146496253
|
0.00014
|
|
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=)
|
rs61751577
|
0.00014
|
|
NM_001018115.3(FANCD2):c.571-19A>T
|
rs141566218
|
0.00014
|
|
NM_001113378.2(FANCI):c.882+10A>G
|
rs370227185
|
0.00014
|
|
NM_002049.4(GATA1):c.1045G>A (p.Val349Met)
|
rs199710067
|
0.00014
|
|
NM_004629.2(FANCG):c.399G>A (p.Pro133=)
|
rs200278002
|
0.00014
|
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
|
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=)
|
rs200715555
|
0.00014
|
|
NM_005236.3(ERCC4):c.471A>G (p.Lys157=)
|
rs3136092
|
0.00014
|
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
0.00014
|
|
NM_018062.4(FANCL):c.1021-6T>C
|
rs377052216
|
0.00014
|
|
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)
|
rs202171930
|
0.00014
|
|
NM_020937.4(FANCM):c.291C>G (p.His97Gln)
|
rs369609574
|
0.00014
|
|
NM_020937.4(FANCM):c.30G>A (p.Gln10=)
|
rs145745979
|
0.00014
|
|
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile)
|
rs143152888
|
0.00014
|
|
NM_020937.4(FANCM):c.5341-19G>A
|
rs375732305
|
0.00014
|
|
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)
|
rs371020401
|
0.00014
|
|
NM_032043.3(BRIP1):c.595C>T (p.Leu199=)
|
rs144969738
|
0.00014
|
|
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val)
|
rs200178217
|
0.00014
|
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
|
NM_000975.5(RPL11):c.6+19G>T
|
rs563555270
|
0.00013
|
|
NM_001014.5(RPS10):c.351C>T (p.Leu117=)
|
rs376353902
|
0.00013
|
|
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=)
|
rs141824395
|
0.00013
|
|
NM_001018115.3(FANCD2):c.206-20C>A
|
rs200170760
|
0.00013
|
|
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=)
|
rs149395670
|
0.00013
|
|
NM_001018115.3(FANCD2):c.2976+6T>C
|
rs201875004
|
0.00013
|
|
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=)
|
rs147934193
|
0.00013
|
|
NM_001113378.2(FANCI):c.3677C>T (p.Thr1226Met)
|
rs367665900
|
0.00013
|
|
NM_004629.2(FANCG):c.1367A>T (p.His456Leu)
|
rs148808709
|
0.00013
|
|
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg)
|
rs773007457
|
0.00013
|
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
|
NM_005236.3(ERCC4):c.973+11A>T
|
rs185779788
|
0.00013
|
|
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu)
|
rs149726602
|
0.00013
|
|
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg)
|
rs547223696
|
0.00013
|
|
NM_020937.4(FANCM):c.3432C>T (p.Phe1144=)
|
rs374047969
|
0.00013
|
|
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu)
|
rs762637141
|
0.00013
|
|
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys)
|
rs139074680
|
0.00013
|
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
|
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg)
|
rs148638909
|
0.00013
|
|
NM_021922.3(FANCE):c.903G>C (p.Gly301=)
|
rs781287698
|
0.00013
|
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
|
NM_032444.4(SLX4):c.2226C>T (p.Asp742=)
|
rs376261173
|
0.00013
|
|
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val)
|
rs550821697
|
0.00012
|
|
NM_000135.4(FANCA):c.1776+11G>A
|
rs377308050
|
0.00012
|
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
|
NM_001018115.3(FANCD2):c.378-4A>G
|
rs75087355
|
0.00012
|
|
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
|
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe)
|
rs199502679
|
0.00012
|
|
NM_001113525.2(ZNF276):c.*1313A>G
|
rs368376237
|
0.00012
|
|
NM_001113525.2(ZNF276):c.*471G>C
|
rs368506826
|
0.00012
|
|
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)
|
rs375860375
|
0.00012
|
|
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)
|
rs201652412
|
0.00012
|
|
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys)
|
rs186197572
|
0.00012
|
|
NM_020937.4(FANCM):c.538A>G (p.Ile180Val)
|
rs151248588
|
0.00012
|
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
|
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr)
|
rs189856413
|
0.00012
|
|
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu)
|
rs151020666
|
0.00012
|
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
|
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)
|
rs61754142
|
0.00012
|
|
NM_032444.4(SLX4):c.2235C>T (p.Thr745=)
|
rs75184268
|
0.00012
|
|
NM_032444.4(SLX4):c.2620G>A (p.Gly874Ser)
|
rs113420526
|
0.00012
|
|
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu)
|
rs373586019
|
0.00012
|
|
NM_032444.4(SLX4):c.4445G>A (p.Cys1482Tyr)
|
rs148856258
|
0.00012
|
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
|
NM_000135.4(FANCA):c.105T>C (p.Tyr35=)
|
rs747928827
|
0.00011
|
|
NM_000135.4(FANCA):c.1471-20G>A
|
rs374579239
|
0.00011
|
|
NM_000135.4(FANCA):c.1536A>C (p.Ser512=)
|
rs766580461
|
0.00011
|
|
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp)
|
rs587778309
|
0.00011
|
|
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)
|
rs143451067
|
0.00011
|
|
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)
|
rs767396631
|
0.00011
|
|
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)
|
rs575108446
|
0.00011
|
|
NM_000135.4(FANCA):c.2842G>C (p.Asp948His)
|
rs778254482
|
0.00011
|
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
|
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=)
|
rs377633991
|
0.00011
|
|
NM_000135.4(FANCA):c.709+20C>T
|
rs368328886
|
0.00011
|
|
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=)
|
rs766105286
|
0.00011
|
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
|
NM_000136.3(FANCC):c.1534-9T>C
|
rs536836859
|
0.00011
|
|
NM_000136.3(FANCC):c.250+16G>A
|
rs371993188
|
0.00011
|
|
NM_000136.3(FANCC):c.522-4A>G
|
rs371422485
|
0.00011
|
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
|
NM_001011.4(RPS7):c.459C>G (p.Leu153=)
|
rs777622518
|
0.00011
|
|
NM_001018115.3(FANCD2):c.2765A>G (p.His922Arg)
|
rs1039845680
|
0.00011
|
|
NM_001018115.3(FANCD2):c.4281+81G>A
|
rs145889419
|
0.00011
|
|
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
|
rs151038616
|
0.00011
|
|
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)
|
rs140404896
|
0.00011
|
|
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=)
|
rs567952571
|
0.00011
|
|
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys)
|
rs143924094
|
0.00011
|
|
NM_005236.3(ERCC4):c.389-9C>A
|
rs369626998
|
0.00011
|
|
NM_005236.3(ERCC4):c.793-13A>T
|
rs201159142
|
0.00011
|
|
NM_018062.4(FANCL):c.1020+15T>C
|
rs201733792
|
0.00011
|
|
NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn)
|
rs544425912
|
0.00011
|
|
NM_018062.4(FANCL):c.706A>G (p.Ile236Val)
|
rs762904548
|
0.00011
|
|
NM_020937.4(FANCM):c.1812C>T (p.Asn604=)
|
rs377473850
|
0.00011
|
|
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)
|
rs146609069
|
0.00011
|
|
NM_020937.4(FANCM):c.5901T>C (p.Ser1967=)
|
rs375558533
|
0.00011
|
|
NM_020937.4(FANCM):c.6096A>G (p.Ile2032Met)
|
rs139343255
|
0.00011
|
|
NM_020937.4(FANCM):c.954G>A (p.Arg318=)
|
rs763895177
|
0.00011
|
|
NM_022725.4(FANCF):c.1054T>C (p.Leu352=)
|
rs61752917
|
0.00011
|
|
NM_032043.3(BRIP1):c.1089C>T (p.Asp363=)
|
rs139701369
|
0.00011
|
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
|
NM_032444.4(SLX4):c.1925-13A>T
|
rs201324113
|
0.00011
|
|
NM_032444.4(SLX4):c.2053G>A (p.Val685Ile)
|
rs371002922
|
0.00011
|
|
NM_032444.4(SLX4):c.2160+8C>T
|
rs374004875
|
0.00011
|
|
NM_032444.4(SLX4):c.2241C>T (p.Ala747=)
|
rs143790956
|
0.00011
|
|
NM_032444.4(SLX4):c.2335G>A (p.Val779Met)
|
rs768126392
|
0.00011
|
|
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
|
rs770020510
|
0.00011
|
|
NM_032444.4(SLX4):c.2958C>G (p.Leu986=)
|
rs148111699
|
0.00011
|
|
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu)
|
rs140417509
|
0.00011
|
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
|
NM_032444.4(SLX4):c.921C>T (p.Asn307=)
|
rs370468973
|
0.00011
|
|
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
|
rs747322973
|
0.00010
|
|
NM_000135.4(FANCA):c.1614G>A (p.Gly538=)
|
rs747421581
|
0.00010
|
|
NM_000135.4(FANCA):c.1755C>G (p.Pro585=)
|
rs144704750
|
0.00010
|
|
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)
|
rs376888740
|
0.00010
|
|
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn)
|
rs1055448646
|
0.00010
|
|
NM_000135.4(FANCA):c.3348+12G>A
|
rs374973869
|
0.00010
|
|
NM_000135.4(FANCA):c.342C>T (p.Ala114=)
|
rs777989691
|
0.00010
|
|
NM_000135.4(FANCA):c.3711C>G (p.Val1237=)
|
rs776879032
|
0.00010
|
|
NM_000135.4(FANCA):c.634A>C (p.Arg212=)
|
rs754839730
|
0.00010
|
|
NM_000135.4(FANCA):c.924C>T (p.Gly308=)
|
rs143255238
|
0.00010
|
|
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)
|
rs140687953
|
0.00010
|
|
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met)
|
rs779261511
|
0.00010
|
|
NM_000136.3(FANCC):c.896+6C>T
|
rs199525333
|
0.00010
|
|
NM_000987.5(RPL26):c.96C>T (p.Ser32=)
|
rs755369380
|
0.00010
|
|
NM_001011.4(RPS7):c.102G>A (p.Ser34=)
|
rs754617897
|
0.00010
|
|
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)
|
rs140363445
|
0.00010
|
|
NM_001018113.3(FANCB):c.504C>G (p.Ser168=)
|
rs373738816
|
0.00010
|
|
NM_001018113.3(FANCB):c.801A>C (p.Ser267=)
|
rs773005941
|
0.00010
|
|
NM_001018115.3(FANCD2):c.165A>G (p.Ser55=)
|
rs543455922
|
0.00010
|
|
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=)
|
rs200118565
|
0.00010
|
|
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)
|
rs141879625
|
0.00010
|
|
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys)
|
rs144419129
|
0.00010
|
|
NM_001113378.2(FANCI):c.2890-13C>T
|
rs377269890
|
0.00010
|
|
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly)
|
rs112932178
|
0.00010
|
|
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln)
|
rs77152961
|
0.00010
|
|
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)
|
rs201438531
|
0.00010
|
|
NM_004629.2(FANCG):c.729T>C (p.Pro243=)
|
rs199736443
|
0.00010
|
|
NM_005236.3(ERCC4):c.1102+13G>T
|
rs199772721
|
0.00010
|
|
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg)
|
rs374675609
|
0.00010
|
|
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln)
|
rs142110072
|
0.00010
|
|
NM_018062.4(FANCL):c.846A>G (p.Gln282=)
|
rs535158133
|
0.00010
|
|
NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu)
|
rs138201476
|
0.00010
|
|
NM_020937.4(FANCM):c.2760G>A (p.Pro920=)
|
rs145506906
|
0.00010
|
|
NM_020937.4(FANCM):c.2889C>T (p.Phe963=)
|
rs544323144
|
0.00010
|
|
NM_021922.3(FANCE):c.59C>T (p.Ala20Val)
|
rs927154227
|
0.00010
|
|
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)
|
rs201285915
|
0.00010
|
|
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu)
|
rs374572943
|
0.00010
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_032444.4(SLX4):c.1563T>C (p.Pro521=)
|
rs146360238
|
0.00010
|
|
NM_032444.4(SLX4):c.1602C>T (p.Ser534=)
|
rs201754095
|
0.00010
|
|
NM_032444.4(SLX4):c.1911G>T (p.Ser637=)
|
rs200013924
|
0.00010
|
|
NM_032444.4(SLX4):c.3438C>T (p.Asn1146=)
|
rs78541095
|
0.00010
|
|
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His)
|
rs139544666
|
0.00010
|
|
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp)
|
rs777967898
|
0.00010
|
|
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)
|
rs201533738
|
0.00010
|
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
|
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)
|
rs369988875
|
0.00009
|
|
NM_000135.4(FANCA):c.1567-6C>T
|
rs377706883
|
0.00009
|
|
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly)
|
rs753980264
|
0.00009
|
|
NM_000135.4(FANCA):c.1776+13C>T
|
rs371272310
|
0.00009
|
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
0.00009
|
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
|
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu)
|
rs373147908
|
0.00009
|
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
|
NM_000135.4(FANCA):c.2376T>C (p.Gly792=)
|
rs756138062
|
0.00009
|
|
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)
|
rs774863156
|
0.00009
|
|
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)
|
rs55758861
|
0.00009
|
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
|
NM_000135.4(FANCA):c.3239+20G>C
|
rs755548646
|
0.00009
|
|
NM_000135.4(FANCA):c.3348+11C>T
|
rs367624518
|
0.00009
|
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
|
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)
|
rs138144828
|
0.00009
|
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
|
NM_000136.3(FANCC):c.1073-5C>T
|
rs375613884
|
0.00009
|
|
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser)
|
rs766809608
|
0.00009
|
|
NM_000136.3(FANCC):c.251-20T>C
|
rs370867462
|
0.00009
|
|
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)
|
rs370346767
|
0.00009
|
|
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly)
|
rs539583288
|
0.00009
|
|
NM_001011.4(RPS7):c.357-10A>G
|
rs202032908
|
0.00009
|
|
NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu)
|
rs370248837
|
0.00009
|
|
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn)
|
rs148560784
|
0.00009
|
|
NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys)
|
rs201281219
|
0.00009
|
|
NM_001018115.3(FANCD2):c.2348G>A (p.Cys783Tyr)
|
rs763986919
|
0.00009
|
|
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)
|
rs150075366
|
0.00009
|
|
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=)
|
rs375929975
|
0.00009
|
|
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=)
|
rs780547790
|
0.00009
|
|
NM_001029.5(RPS26):c.312G>A (p.Ala104=)
|
rs145976784
|
0.00009
|
|
NM_001113378.2(FANCI):c.165C>T (p.Pro55=)
|
rs139039885
|
0.00009
|
|
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)
|
rs140965103
|
0.00009
|
|
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg)
|
rs200026076
|
0.00009
|
|
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)
|
rs377165815
|
0.00009
|
|
NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro)
|
rs782120820
|
0.00009
|
|
NM_002049.4(GATA1):c.361G>A (p.Val121Met)
|
rs200509606
|
0.00009
|
|
NM_004629.2(FANCG):c.373_375dup (p.Val125dup)
|
rs750843326
|
0.00009
|
|
NM_004629.2(FANCG):c.375C>G (p.Val125=)
|
rs199754122
|
0.00009
|
|
NM_004629.2(FANCG):c.646+15T>C
|
rs551775705
|
0.00009
|
|
NM_004629.2(FANCG):c.647-16C>A
|
rs200107462
|
0.00009
|
|
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=)
|
rs376695854
|
0.00009
|
|
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)
|
rs147458778
|
0.00009
|
|
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)
|
rs368830992
|
0.00009
|
|
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)
|
rs370896187
|
0.00009
|
|
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=)
|
rs758451676
|
0.00009
|
|
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=)
|
rs373237850
|
0.00009
|
|
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)
|
rs146764714
|
0.00009
|
|
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)
|
rs373408411
|
0.00009
|
|
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr)
|
rs141101671
|
0.00009
|
|
NM_018062.4(FANCL):c.217-4C>A
|
rs369048526
|
0.00009
|
|
NM_020937.4(FANCM):c.1396+10A>G
|
rs371211104
|
0.00009
|
|
NM_020937.4(FANCM):c.1668T>C (p.Asp556=)
|
rs142380037
|
0.00009
|
|
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)
|
rs368728266
|
0.00009
|
|
NM_020937.4(FANCM):c.3616C>G (p.Gln1206Glu)
|
rs377167890
|
0.00009
|
|
NM_020937.4(FANCM):c.3829A>G (p.Asn1277Asp)
|
rs946862124
|
0.00009
|
|
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly)
|
rs561723791
|
0.00009
|
|
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn)
|
rs151273573
|
0.00009
|
|
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg)
|
rs368937236
|
0.00009
|
|
NM_020937.4(FANCM):c.775A>G (p.Ile259Val)
|
rs150256536
|
0.00009
|
|
NM_020937.4(FANCM):c.869T>C (p.Ile290Thr)
|
rs377303950
|
0.00009
|
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
0.00009
|
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
|
NM_021922.3(FANCE):c.856-5C>T
|
rs749252957
|
0.00009
|
|
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)
|
rs750623273
|
0.00009
|
|
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser)
|
rs372140217
|
0.00009
|
|
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu)
|
rs377302300
|
0.00009
|
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
|
NM_032043.3(BRIP1):c.93+15G>A
|
rs113052745
|
0.00009
|
|
NM_032444.4(SLX4):c.1223G>A (p.Arg408Gln)
|
rs377135500
|
0.00009
|
|
NM_032444.4(SLX4):c.1641G>A (p.Thr547=)
|
rs200497436
|
0.00009
|
|
NM_032444.4(SLX4):c.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
|
NM_032444.4(SLX4):c.3911T>G (p.Val1304Gly)
|
rs146837290
|
0.00009
|
|
NM_032444.4(SLX4):c.4151T>C (p.Leu1384Pro)
|
rs553317304
|
0.00009
|
|
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu)
|
rs72778139
|
0.00009
|
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
|
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)
|
rs200093209
|
0.00008
|
|
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp)
|
rs373986283
|
0.00008
|
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
|
NM_000135.4(FANCA):c.3734A>G (p.Gln1245Arg)
|
rs542032916
|
0.00008
|
|
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=)
|
rs17227389
|
0.00008
|
|
NM_000135.4(FANCA):c.679C>G (p.His227Asp)
|
rs142580507
|
0.00008
|
|
NM_000135.4(FANCA):c.709+9A>G
|
rs371624767
|
0.00008
|
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
|
NM_000136.3(FANCC):c.1533+13G>A
|
rs200515307
|
0.00008
|
|
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)
|
rs121434406
|
0.00008
|
|
NM_001011.4(RPS7):c.276C>G (p.Val92=)
|
rs61730448
|
0.00008
|
|
NM_001014.5(RPS10):c.261G>A (p.Pro87=)
|
rs781484971
|
0.00008
|
|
NM_001018113.3(FANCB):c.1077A>T (p.Ile359=)
|
rs191379403
|
0.00008
|
|
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)
|
rs771007866
|
0.00008
|
|
NM_001018113.3(FANCB):c.330A>C (p.Leu110=)
|
rs201633684
|
0.00008
|
|
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
|
rs142289802
|
0.00008
|
|
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)
|
rs150435015
|
0.00008
|
|
NM_001018115.3(FANCD2):c.2269+15C>T
|
rs374096957
|
0.00008
|
|
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala)
|
rs145099733
|
0.00008
|
|
NM_001018115.3(FANCD2):c.4281+37G>A
|
rs376442380
|
0.00008
|
|
NM_001018115.3(FANCD2):c.439-18C>A
|
rs184060118
|
0.00008
|
|
NM_001018115.3(FANCD2):c.672C>T (p.His224=)
|
rs371928644
|
0.00008
|
|
NM_001022.4(RPS19):c.333A>G (p.Lys111=)
|
rs781845960
|
0.00008
|
|
NM_001022.4(RPS19):c.356+13G>C
|
rs781957086
|
0.00008
|
|
NM_001029.5(RPS26):c.63T>A (p.Ile21=)
|
rs148167449
|
0.00008
|
|
NM_001113378.2(FANCI):c.669+14A>G
|
rs369804967
|
0.00008
|
|
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys)
|
rs368711186
|
0.00008
|
|
NM_001113525.2(ZNF276):c.*1224G>A
|
rs763049986
|
0.00008
|
|
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)
|
rs374186605
|
0.00008
|
|
NM_005236.3(ERCC4):c.714G>A (p.Lys238=)
|
rs780166871
|
0.00008
|
|
NM_018062.4(FANCL):c.1124A>C (p.His375Pro)
|
rs545084971
|
0.00008
|
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
|
NM_020937.4(FANCM):c.1309+5G>T
|
rs370363591
|
0.00008
|
|
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=)
|
rs574509639
|
0.00008
|
|
NM_020937.4(FANCM):c.4222+18dup
|
rs760075544
|
0.00008
|
|
NM_020937.4(FANCM):c.4223-4A>G
|
rs191128410
|
0.00008
|
|
NM_020937.4(FANCM):c.4318-1G>A
|
rs752228025
|
0.00008
|
|
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg)
|
rs572890751
|
0.00008
|
|
NM_020937.4(FANCM):c.4367G>A (p.Arg1456His)
|
rs749332566
|
0.00008
|
|
NM_020937.4(FANCM):c.4716A>G (p.Pro1572=)
|
rs953261541
|
0.00008
|
|
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu)
|
rs750384175
|
0.00008
|
|
NM_021922.3(FANCE):c.1238-10C>T
|
rs765940689
|
0.00008
|
|
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg)
|
rs200083899
|
0.00008
|
|
NM_021922.3(FANCE):c.1464C>T (p.Ala488=)
|
rs779775366
|
0.00008
|
|
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr)
|
rs372625322
|
0.00008
|
|
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)
|
rs200416138
|
0.00008
|
|
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His)
|
rs574214196
|
0.00008
|
|
NM_032444.4(SLX4):c.4572C>T (p.Thr1524=)
|
rs144666372
|
0.00008
|
|
NM_032444.4(SLX4):c.4665C>T (p.Pro1555=)
|
rs749018784
|
0.00008
|
|
NM_032444.4(SLX4):c.4682C>T (p.Thr1561Met)
|
rs543847606
|
0.00008
|
|
NM_032444.4(SLX4):c.5153+17G>A
|
rs768122851
|
0.00008
|
|
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=)
|
rs140231739
|
0.00008
|
|
NM_032444.4(SLX4):c.630A>G (p.Leu210=)
|
rs746155183
|
0.00008
|
|
NM_000135.4(FANCA):c.1006+4G>C
|
rs201771215
|
0.00007
|
|
NM_000135.4(FANCA):c.1225+14C>T
|
rs376558078
|
0.00007
|
|
NM_000135.4(FANCA):c.1332G>A (p.Ala444=)
|
rs377705748
|
0.00007
|
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
|
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
|
rs200922390
|
0.00007
|
|
NM_000135.4(FANCA):c.2222+7G>A
|
rs374312736
|
0.00007
|
|
NM_000135.4(FANCA):c.2505-18T>C
|
rs750140062
|
0.00007
|
|
NM_000135.4(FANCA):c.265C>T (p.His89Tyr)
|
rs746125523
|
0.00007
|
|
NM_000135.4(FANCA):c.2820A>G (p.Gln940=)
|
rs776686639
|
0.00007
|
|
NM_000135.4(FANCA):c.2981+4dup
|
rs75004096
|
0.00007
|
|
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)
|
rs757175768
|
0.00007
|
|
NM_000135.4(FANCA):c.303A>G (p.Gln101=)
|
rs199552612
|
0.00007
|
|
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro)
|
rs556235245
|
0.00007
|
|
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)
|
rs369765552
|
0.00007
|
|
NM_000135.4(FANCA):c.3615G>A (p.Gln1205=)
|
rs368349576
|
0.00007
|
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
|
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
|
rs555519520
|
0.00007
|
|
NM_000135.4(FANCA):c.918G>A (p.Thr306=)
|
rs199634699
|
0.00007
|
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
|
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)
|
rs140992397
|
0.00007
|
|
NM_000136.3(FANCC):c.345+6A>T
|
rs368595927
|
0.00007
|
|
NM_000136.3(FANCC):c.531C>T (p.Pro177=)
|
rs150070473
|
0.00007
|
|
NM_000136.3(FANCC):c.889A>T (p.Met297Leu)
|
rs730881719
|
0.00007
|
|
NM_000975.5(RPL11):c.6+9C>T
|
rs758722817
|
0.00007
|
|
NM_000996.4(RPL35A):c.12-18G>A
|
rs373448841
|
0.00007
|
|
NM_001014.5(RPS10):c.103C>T (p.Leu35=)
|
rs143557454
|
0.00007
|
|
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)
|
rs201147592
|
0.00007
|
|
NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=)
|
rs752268889
|
0.00007
|
|
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val)
|
rs377490218
|
0.00007
|
|
NM_001018115.3(FANCD2):c.3642T>A (p.Ser1214=)
|
rs538250317
|
0.00007
|
|
NM_001018115.3(FANCD2):c.3964-19A>G
|
rs200544843
|
0.00007
|
|
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg)
|
rs139072231
|
0.00007
|
|
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala)
|
rs767847271
|
0.00007
|
|
NM_001113378.2(FANCI):c.754G>A (p.Glu252Lys)
|
rs776911782
|
0.00007
|
|
NM_001113378.2(FANCI):c.793C>T (p.Arg265Cys)
|
rs753511061
|
0.00007
|
|
NM_002049.4(GATA1):c.1046T>C (p.Val349Ala)
|
rs146196033
|
0.00007
|
|
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys)
|
rs201153812
|
0.00007
|
|
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)
|
rs3136151
|
0.00007
|
|
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn)
|
rs55736359
|
0.00007
|
|
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)
|
rs760922582
|
0.00007
|
|
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln)
|
rs180919656
|
0.00007
|
|
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)
|
rs374978891
|
0.00007
|
|
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=)
|
rs555317161
|
0.00007
|
|
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu)
|
rs761087753
|
0.00007
|
|
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)
|
rs150077735
|
0.00007
|
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
|
NM_020937.4(FANCM):c.122C>T (p.Pro41Leu)
|
rs548726090
|
0.00007
|
|
NM_020937.4(FANCM):c.1366G>A (p.Val456Ile)
|
rs779075398
|
0.00007
|
|
NM_020937.4(FANCM):c.140A>G (p.Glu47Gly)
|
rs756402229
|
0.00007
|
|
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser)
|
rs768676143
|
0.00007
|
|
NM_020937.4(FANCM):c.1742G>A (p.Arg581His)
|
rs748083548
|
0.00007
|
|
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr)
|
rs147805461
|
0.00007
|
|
NM_020937.4(FANCM):c.2703A>G (p.Ser901=)
|
rs781066677
|
0.00007
|
|
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe)
|
rs773837264
|
0.00007
|
|
NM_020937.4(FANCM):c.2997G>A (p.Pro999=)
|
rs141430587
|
0.00007
|
|
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu)
|
rs148605513
|
0.00007
|
|
NM_020937.4(FANCM):c.3469G>A (p.Glu1157Lys)
|
rs374461604
|
0.00007
|
|
NM_020937.4(FANCM):c.3998A>C (p.Gln1333Pro)
|
rs143681767
|
0.00007
|
|
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His)
|
rs776506025
|
0.00007
|
|
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe)
|
rs202101508
|
0.00007
|
|
NM_020937.4(FANCM):c.93A>G (p.Arg31=)
|
rs112641528
|
0.00007
|
|
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)
|
rs773580818
|
0.00007
|
|
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)
|
rs763151358
|
0.00007
|
|
NM_022725.4(FANCF):c.617C>T (p.Ala206Val)
|
rs756213451
|
0.00007
|
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
|
NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys)
|
rs371185409
|
0.00007
|
|
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)
|
rs369843642
|
0.00007
|
|
NM_032444.4(SLX4):c.1232G>A (p.Arg411Gln)
|
rs201009985
|
0.00007
|
|
NM_032444.4(SLX4):c.1385A>G (p.Lys462Arg)
|
rs112133511
|
0.00007
|
|
NM_032444.4(SLX4):c.1701C>T (p.Pro567=)
|
rs776750571
|
0.00007
|
|
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu)
|
rs534528576
|
0.00007
|
|
NM_032444.4(SLX4):c.192A>G (p.Lys64=)
|
rs756720856
|
0.00007
|
|
NM_032444.4(SLX4):c.2005C>T (p.Arg669Cys)
|
rs375524355
|
0.00007
|
|
NM_032444.4(SLX4):c.2034T>G (p.Val678=)
|
rs200278096
|
0.00007
|
|
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp)
|
rs199656607
|
0.00007
|
|
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=)
|
rs3810814
|
0.00007
|
|
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr)
|
rs370663234
|
0.00007
|
|
NM_032444.4(SLX4):c.3861G>A (p.Val1287=)
|
rs756446820
|
0.00007
|
|
NM_032444.4(SLX4):c.4149C>T (p.Phe1383=)
|
rs983816841
|
0.00007
|
|
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=)
|
rs368388100
|
0.00007
|
|
NM_032444.4(SLX4):c.4393C>T (p.Arg1465Cys)
|
rs765485426
|
0.00007
|
|
NM_032444.4(SLX4):c.4869G>A (p.Ala1623=)
|
rs372206872
|
0.00007
|
|
NM_032444.4(SLX4):c.5208C>T (p.Gly1736=)
|
rs569225834
|
0.00007
|
|
NM_032444.4(SLX4):c.679G>A (p.Ala227Thr)
|
rs147872182
|
0.00007
|
|
NM_032444.4(SLX4):c.950+19G>A
|
rs765606980
|
0.00007
|
|
NM_058216.3(RAD51C):c.769C>G (p.Leu257Val)
|
rs750551012
|
0.00007
|
|
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile)
|
rs774948790
|
0.00006
|
|
NM_000135.4(FANCA):c.1226-4C>G
|
rs934483477
|
0.00006
|
|
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr)
|
rs752587443
|
0.00006
|
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
|
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)
|
rs550064744
|
0.00006
|
|
NM_000135.4(FANCA):c.1901-10C>T
|
rs766654290
|
0.00006
|
|
NM_000135.4(FANCA):c.2292G>A (p.Arg764=)
|
rs56267906
|
0.00006
|
|
NM_000135.4(FANCA):c.2778+12T>C
|
rs775047268
|
0.00006
|
|
NM_000135.4(FANCA):c.2778+83C>T
|
rs750997715
|
0.00006
|
|
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)
|
rs142377616
|
0.00006
|
|
NM_000135.4(FANCA):c.3066+16C>T
|
rs199529426
|
0.00006
|
|
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)
|
rs776603588
|
0.00006
|
|
NM_000135.4(FANCA):c.3279C>T (p.Ser1093=)
|
rs575863400
|
0.00006
|
|
NM_000135.4(FANCA):c.3348+17C>T
|
rs192934767
|
0.00006
|
|
NM_000135.4(FANCA):c.3349-3C>T
|
rs373861415
|
0.00006
|
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
|
NM_000135.4(FANCA):c.3408+16A>G
|
rs373636902
|
0.00006
|
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
|
NM_000135.4(FANCA):c.3626+16G>A
|
rs375826280
|
0.00006
|
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
|
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln)
|
rs370507983
|
0.00006
|
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
|
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)
|
rs374984587
|
0.00006
|
|
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg)
|
rs943773590
|
0.00006
|
|
NM_000135.4(FANCA):c.537T>G (p.Leu179=)
|
rs749811331
|
0.00006
|
|
NM_000135.4(FANCA):c.661A>G (p.Met221Val)
|
rs150924963
|
0.00006
|
|
NM_000135.4(FANCA):c.710-9G>A
|
rs772864817
|
0.00006
|
|
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro)
|
rs762721928
|
0.00006
|
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
|
NM_000136.3(FANCC):c.-65C>T
|
rs371725430
|
0.00006
|
|
NM_000136.3(FANCC):c.1155-13G>T
|
rs747142087
|
0.00006
|
|
NM_000136.3(FANCC):c.1242G>A (p.Ser414=)
|
rs587780939
|
0.00006
|
|
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro)
|
rs587779903
|
0.00006
|
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
|
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp)
|
rs571548182
|
0.00006
|
|
NM_000136.3(FANCC):c.767A>G (p.His256Arg)
|
rs730881716
|
0.00006
|
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
|
NM_000136.3(FANCC):c.974C>T (p.Ala325Val)
|
rs367618818
|
0.00006
|
|
NM_000969.5(RPL5):c.691G>A (p.Val231Ile)
|
rs568863745
|
0.00006
|
|
NM_000975.5(RPL11):c.158-7C>T
|
rs768654673
|
0.00006
|
|
NM_000975.5(RPL11):c.300A>G (p.Ser100=)
|
rs372622822
|
0.00006
|
|
NM_000975.5(RPL11):c.378C>T (p.Tyr126=)
|
rs774450430
|
0.00006
|
|
NM_000996.4(RPL35A):c.21C>T (p.Ser7=)
|
rs145660527
|
0.00006
|
|
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr)
|
rs533670667
|
0.00006
|
|
NM_001011.4(RPS7):c.148-6C>T
|
rs533287773
|
0.00006
|
|
NM_001011.4(RPS7):c.75+13C>T
|
rs751796318
|
0.00006
|
|
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=)
|
rs777812135
|
0.00006
|
|
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly)
|
rs951763949
|
0.00006
|
|
NM_001018115.3(FANCD2):c.1546-8T>C
|
rs530202330
|
0.00006
|
|
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys)
|
rs143701205
|
0.00006
|
|
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr)
|
rs760428640
|
0.00006
|
|
NM_001018115.3(FANCD2):c.2859+13C>G
|
rs376913349
|
0.00006
|
|
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln)
|
rs755748094
|
0.00006
|
|
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His)
|
rs566769898
|
0.00006
|
|
NM_001018115.3(FANCD2):c.4186-13C>T
|
rs755767180
|
0.00006
|
|
NM_001018115.3(FANCD2):c.538C>T (p.Leu180=)
|
rs373835427
|
0.00006
|
|
NM_001018115.3(FANCD2):c.796G>A (p.Val266Met)
|
rs530125285
|
0.00006
|
|
NM_001018115.3(FANCD2):c.889-9T>A
|
rs767122938
|
0.00006
|
|
NM_001022.4(RPS19):c.173-19C>G
|
rs782495262
|
0.00006
|
|
NM_001022.4(RPS19):c.183G>A (p.Ala61=)
|
rs782727047
|
0.00006
|
|
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr)
|
rs782368794
|
0.00006
|
|
NM_001022.4(RPS19):c.411+19G>T
|
rs782394063
|
0.00006
|
|
NM_001022.4(RPS19):c.71+19G>A
|
rs377615364
|
0.00006
|
|
NM_001022.4(RPS19):c.75C>G (p.Ser25=)
|
rs370343297
|
0.00006
|
|
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
|
rs149008055
|
0.00006
|
|
NM_001113378.2(FANCI):c.1112+3A>G
|
rs367970067
|
0.00006
|
|
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg)
|
rs377227097
|
0.00006
|
|
NM_001113378.2(FANCI):c.1734C>T (p.Val578=)
|
rs536499156
|
0.00006
|
|
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=)
|
rs563218968
|
0.00006
|
|
NM_001113378.2(FANCI):c.1972A>T (p.Ile658Phe)
|
rs745308624
|
0.00006
|
|
NM_001113378.2(FANCI):c.2023T>C (p.Leu675=)
|
rs144800324
|
0.00006
|
|
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys)
|
rs1414995711
|
0.00006
|
|
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val)
|
rs377308647
|
0.00006
|
|
NM_001113378.2(FANCI):c.2292-11G>C
|
rs763570868
|
0.00006
|
|
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly)
|
rs768500794
|
0.00006
|
|
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)
|
rs933284199
|
0.00006
|
|
NM_001113378.2(FANCI):c.2751T>C (p.Ser917=)
|
rs202135041
|
0.00006
|
|
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln)
|
rs142322239
|
0.00006
|
|
NM_001113378.2(FANCI):c.288+10C>T
|
rs370505986
|
0.00006
|
|
NM_001113378.2(FANCI):c.288+3A>G
|
rs538283826
|
0.00006
|
|
NM_001113378.2(FANCI):c.2890-19G>A
|
rs758850736
|
0.00006
|
|
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp)
|
rs755403672
|
0.00006
|
|
NM_001113378.2(FANCI):c.546-19T>C
|
rs111301033
|
0.00006
|
|
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn)
|
rs779604966
|
0.00006
|
|
NM_001113378.2(FANCI):c.798T>C (p.His266=)
|
rs148856789
|
0.00006
|
|
NM_001113525.2(ZNF276):c.*2634C>T
|
rs34476949
|
0.00006
|
|
NM_002049.4(GATA1):c.295G>A (p.Gly99Ser)
|
rs184815507
|
0.00006
|
|
NM_002049.4(GATA1):c.480T>C (p.Asn160=)
|
rs143332634
|
0.00006
|
|
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys)
|
rs140561920
|
0.00006
|
|
NM_002049.4(GATA1):c.678C>T (p.Asn226=)
|
rs370522986
|
0.00006
|
|
NM_002049.4(GATA1):c.744+5G>A
|
rs376546932
|
0.00006
|
|
NM_004629.2(FANCG):c.1048C>T (p.Leu350=)
|
rs772109570
|
0.00006
|
|
NM_004629.2(FANCG):c.1182T>C (p.Pro394=)
|
rs757225801
|
0.00006
|
|
NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp)
|
rs183777537
|
0.00006
|
|
NM_004629.2(FANCG):c.1433+9G>A
|
rs187315404
|
0.00006
|
|
NM_004629.2(FANCG):c.1480+7T>C
|
rs374096159
|
0.00006
|
|
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys)
|
rs368098479
|
0.00006
|
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
|
NM_004629.2(FANCG):c.464G>A (p.Arg155His)
|
rs201099560
|
0.00006
|
|
NM_004629.2(FANCG):c.705G>A (p.Ala235=)
|
rs148910563
|
0.00006
|
|
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp)
|
rs574511407
|
0.00006
|
|
NM_004629.2(FANCG):c.766C>T (p.His256Tyr)
|
rs753955326
|
0.00006
|
|
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr)
|
rs752346718
|
0.00006
|
|
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)
|
rs552142099
|
0.00006
|
|
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)
|
rs765454246
|
0.00006
|
|
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)
|
rs374556359
|
0.00006
|
|
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys)
|
rs376688194
|
0.00006
|
|
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=)
|
rs200818432
|
0.00006
|
|
NM_005236.3(ERCC4):c.257G>A (p.Arg86His)
|
rs187435008
|
0.00006
|
|
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro)
|
rs368064765
|
0.00006
|
|
NM_005236.3(ERCC4):c.260G>A (p.Arg87His)
|
rs371487368
|
0.00006
|
|
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile)
|
rs140726146
|
0.00006
|
|
NM_005236.3(ERCC4):c.389-5C>T
|
rs377224276
|
0.00006
|
|
NM_018062.4(FANCL):c.273+7A>C
|
rs745366278
|
0.00006
|
|
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn)
|
rs770368316
|
0.00006
|
|
NM_018062.4(FANCL):c.335C>T (p.Ser112Leu)
|
rs756590256
|
0.00006
|
|
NM_018062.4(FANCL):c.471+9C>G
|
rs376716140
|
0.00006
|
|
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser)
|
rs144057264
|
0.00006
|
|
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp)
|
rs772025061
|
0.00006
|
|
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln)
|
rs530233908
|
0.00006
|
|
NM_020937.4(FANCM):c.1222G>C (p.Asp408His)
|
rs199929558
|
0.00006
|
|
NM_020937.4(FANCM):c.1397-16T>A
|
rs752547104
|
0.00006
|
|
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)
|
rs200717151
|
0.00006
|
|
NM_020937.4(FANCM):c.187G>A (p.Glu63Lys)
|
rs768419961
|
0.00006
|
|
NM_020937.4(FANCM):c.1996A>G (p.Arg666Gly)
|
rs78437454
|
0.00006
|
|
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys)
|
rs200173413
|
0.00006
|
|
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val)
|
rs199948045
|
0.00006
|
|
NM_020937.4(FANCM):c.2682A>C (p.Leu894=)
|
rs757013722
|
0.00006
|
|
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=)
|
rs199507375
|
0.00006
|
|
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val)
|
rs573485502
|
0.00006
|
|
NM_020937.4(FANCM):c.3570C>A (p.Leu1190=)
|
rs766057000
|
0.00006
|
|
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly)
|
rs746030136
|
0.00006
|
|
NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly)
|
rs763808637
|
0.00006
|
|
NM_020937.4(FANCM):c.3868A>G (p.Thr1290Ala)
|
rs774044128
|
0.00006
|
|
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys)
|
rs139376041
|
0.00006
|
|
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His)
|
rs377502779
|
0.00006
|
|
NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys)
|
rs769919966
|
0.00006
|
|
NM_020937.4(FANCM):c.5770A>T (p.Thr1924Ser)
|
rs747103379
|
0.00006
|
|
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys)
|
rs199699785
|
0.00006
|
|
NM_020937.4(FANCM):c.6041T>C (p.Val2014Ala)
|
rs374376462
|
0.00006
|
|
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr)
|
rs150447576
|
0.00006
|
|
NM_021922.3(FANCE):c.1062T>C (p.Asp354=)
|
rs377505032
|
0.00006
|
|
NM_021922.3(FANCE):c.1278G>A (p.Met426Ile)
|
rs758380315
|
0.00006
|
|
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)
|
rs1225225979
|
0.00006
|
|
NM_021922.3(FANCE):c.1509+8T>C
|
rs562092952
|
0.00006
|
|
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr)
|
rs377415237
|
0.00006
|
|
NM_021922.3(FANCE):c.1608C>G (p.Pro536=)
|
rs370301848
|
0.00006
|
|
NM_021922.3(FANCE):c.17C>T (p.Ala6Val)
|
rs1019486578
|
0.00006
|
|
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp)
|
rs759034838
|
0.00006
|
|
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp)
|
rs765538271
|
0.00006
|
|
NM_021922.3(FANCE):c.552A>C (p.Pro184=)
|
rs138182352
|
0.00006
|
|
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys)
|
rs142746353
|
0.00006
|
|
NM_021922.3(FANCE):c.901-20C>T
|
rs754828130
|
0.00006
|
|
NM_021922.3(FANCE):c.954A>G (p.Glu318=)
|
rs149719310
|
0.00006
|
|
NM_021922.3(FANCE):c.970-17C>A
|
rs758179752
|
0.00006
|
|
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)
|
rs577253174
|
0.00006
|
|
NM_022725.4(FANCF):c.404G>T (p.Arg135Leu)
|
rs759515146
|
0.00006
|
|
NM_022725.4(FANCF):c.887G>T (p.Gly296Val)
|
rs571674814
|
0.00006
|
|
NM_032043.3(BRIP1):c.1053A>G (p.Pro351=)
|
rs544977115
|
0.00006
|
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
|
NM_032043.3(BRIP1):c.1176A>G (p.Leu392=)
|
rs550092661
|
0.00006
|
|
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)
|
rs730881640
|
0.00006
|
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00006
|
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
|
NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu)
|
rs200363140
|
0.00006
|
|
NM_032444.4(SLX4):c.1160T>A (p.Phe387Tyr)
|
rs767298613
|
0.00006
|
|
NM_032444.4(SLX4):c.1243G>A (p.Glu415Lys)
|
rs146021821
|
0.00006
|
|
NM_032444.4(SLX4):c.1307C>T (p.Ala436Val)
|
rs773539191
|
0.00006
|
|
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln)
|
rs145194745
|
0.00006
|
|
NM_032444.4(SLX4):c.1455C>A (p.Asp485Glu)
|
rs150053867
|
0.00006
|
|
NM_032444.4(SLX4):c.165C>T (p.Cys55=)
|
rs202030834
|
0.00006
|
|
NM_032444.4(SLX4):c.1702G>A (p.Val568Met)
|
rs371825444
|
0.00006
|
|
NM_032444.4(SLX4):c.1896G>C (p.Gly632=)
|
rs200859735
|
0.00006
|
|
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val)
|
rs746717279
|
0.00006
|
|
NM_032444.4(SLX4):c.2181C>T (p.Ser727=)
|
rs565391485
|
0.00006
|
|
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val)
|
rs201622632
|
0.00006
|
|
NM_032444.4(SLX4):c.2424C>T (p.Cys808=)
|
rs774909246
|
0.00006
|
|
NM_032444.4(SLX4):c.2457G>A (p.Leu819=)
|
rs148026020
|
0.00006
|
|
NM_032444.4(SLX4):c.258A>G (p.Ile86Met)
|
rs112205823
|
0.00006
|
|
NM_032444.4(SLX4):c.2655G>A (p.Pro885=)
|
rs564629312
|
0.00006
|
|
NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr)
|
rs148428054
|
0.00006
|
|
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile)
|
rs781323142
|
0.00006
|
|
NM_032444.4(SLX4):c.2898G>A (p.Gln966=)
|
rs748700450
|
0.00006
|
|
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)
|
rs546628836
|
0.00006
|
|
NM_032444.4(SLX4):c.2949C>T (p.Tyr983=)
|
rs758944750
|
0.00006
|
|
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)
|
rs769271628
|
0.00006
|
|
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)
|
rs150453226
|
0.00006
|
|
NM_032444.4(SLX4):c.3138C>T (p.Arg1046=)
|
rs527904726
|
0.00006
|
|
NM_032444.4(SLX4):c.3684T>C (p.Ser1228=)
|
rs752040666
|
0.00006
|
|
NM_032444.4(SLX4):c.3738C>T (p.Ser1246=)
|
rs376232540
|
0.00006
|
|
NM_032444.4(SLX4):c.3844C>T (p.Leu1282=)
|
rs772652088
|
0.00006
|
|
NM_032444.4(SLX4):c.4146C>A (p.Ser1382Arg)
|
rs926938694
|
0.00006
|
|
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=)
|
rs139377113
|
0.00006
|
|
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)
|
rs139254595
|
0.00006
|
|
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)
|
rs551385115
|
0.00006
|
|
NM_032444.4(SLX4):c.5178G>A (p.Ala1726=)
|
rs140666540
|
0.00006
|
|
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro)
|
rs199838670
|
0.00006
|
|
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His)
|
rs201036767
|
0.00006
|
|
NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln)
|
rs373558741
|
0.00006
|
|
NM_032444.4(SLX4):c.873G>A (p.Lys291=)
|
rs751904877
|
0.00006
|
|
NM_032444.4(SLX4):c.900A>G (p.Gln300=)
|
rs373867005
|
0.00006
|
|
NM_032444.4(SLX4):c.996G>T (p.Gln332His)
|
rs377201471
|
0.00006
|
|
NM_058216.3(RAD51C):c.1108C>T (p.Arg370Ter)
|
rs756744016
|
0.00006
|
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
|
NM_058216.3(RAD51C):c.336G>A (p.Gly112=)
|
rs746122031
|
0.00006
|
|
NM_058216.3(RAD51C):c.351A>G (p.Leu117=)
|
rs370986989
|
0.00006
|
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00006
|
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
|
NM_058216.3(RAD51C):c.813C>T (p.Ser271=)
|
rs376853755
|
0.00006
|
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
|
NM_058216.3(RAD51C):c.967T>C (p.Leu323=)
|
rs747727600
|
0.00006
|
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
|
NM_000135.4(FANCA):c.1359+16A>G
|
rs200016746
|
0.00005
|
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
|
NM_000135.4(FANCA):c.2015-5C>T
|
rs780349960
|
0.00005
|
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
|
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)
|
rs751015814
|
0.00005
|
|
NM_000135.4(FANCA):c.2316+9C>G
|
rs776301232
|
0.00005
|
|
NM_000135.4(FANCA):c.2317-8C>T
|
rs753766357
|
0.00005
|
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
|
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)
|
rs376302719
|
0.00005
|
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
|
NM_000135.4(FANCA):c.2779-11C>G
|
rs185392597
|
0.00005
|
|
NM_000135.4(FANCA):c.27C>T (p.Ser9=)
|
rs540584108
|
0.00005
|
|
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)
|
rs141422170
|
0.00005
|
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
|
NM_000135.4(FANCA):c.897C>T (p.Phe299=)
|
rs765341703
|
0.00005
|
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
|
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)
|
rs200719554
|
0.00005
|
|
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)
|
rs730881723
|
0.00005
|
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
|
NM_000136.3(FANCC):c.1425A>G (p.Thr475=)
|
rs199739450
|
0.00005
|
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
|
NM_000136.3(FANCC):c.1560C>T (p.His520=)
|
rs150020474
|
0.00005
|
|
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys)
|
rs185822330
|
0.00005
|
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
|
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser)
|
rs200854639
|
0.00005
|
|
NM_000136.3(FANCC):c.897-8T>C
|
rs878853673
|
0.00005
|
|
NM_000969.5(RPL5):c.228C>T (p.Cys76=)
|
rs370284124
|
0.00005
|
|
NM_000975.5(RPL11):c.51C>T (p.Ile17=)
|
rs766157130
|
0.00005
|
|
NM_000987.5(RPL26):c.288C>T (p.His96=)
|
rs573206384
|
0.00005
|
|
NM_000987.5(RPL26):c.327A>G (p.Leu109=)
|
rs755255765
|
0.00005
|
|
NM_000996.4(RPL35A):c.12-5C>G
|
rs541454864
|
0.00005
|
|
NM_001011.4(RPS7):c.543G>A (p.Thr181=)
|
rs776954129
|
0.00005
|
|
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu)
|
rs374314919
|
0.00005
|
|
NM_001014.5(RPS10):c.401-9A>G
|
rs760917852
|
0.00005
|
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
|
NM_001018113.3(FANCB):c.1838G>A (p.Arg613His)
|
rs144764663
|
0.00005
|
|
NM_001018113.3(FANCB):c.197C>T (p.Thr66Ile)
|
rs750180189
|
0.00005
|
|
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe)
|
rs373141774
|
0.00005
|
|
NM_001018113.3(FANCB):c.2165+10A>T
|
rs184385334
|
0.00005
|
|
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr)
|
rs756392097
|
0.00005
|
|
NM_001018113.3(FANCB):c.388A>G (p.Met130Val)
|
rs776724055
|
0.00005
|
|
NM_001018115.3(FANCD2):c.1068T>C (p.Tyr356=)
|
rs531943246
|
0.00005
|
|
NM_001018115.3(FANCD2):c.1373A>G (p.Tyr458Cys)
|
rs535519170
|
0.00005
|
|
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val)
|
rs201408009
|
0.00005
|
|
NM_001018115.3(FANCD2):c.183G>A (p.Thr61=)
|
rs771445756
|
0.00005
|
|
NM_001018115.3(FANCD2):c.2022-4G>A
|
rs748941966
|
0.00005
|
|
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn)
|
rs534038231
|
0.00005
|
|
NM_001018115.3(FANCD2):c.3778-20C>T
|
rs751107447
|
0.00005
|
|
NM_001018115.3(FANCD2):c.3850-17G>T
|
rs369702202
|
0.00005
|
|
NM_001018115.3(FANCD2):c.696-11A>G
|
rs376488313
|
0.00005
|
|
NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu)
|
rs752880854
|
0.00005
|
|
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp)
|
rs778865461
|
0.00005
|
|
NM_001018115.3(FANCD2):c.990-1G>A
|
rs112832879
|
0.00005
|
|
NM_001022.4(RPS19):c.357-17C>T
|
rs782356785
|
0.00005
|
|
NM_001029.5(RPS26):c.60T>A (p.Pro20=)
|
rs368838700
|
0.00005
|
|
NM_001113378.2(FANCI):c.1113-10G>C
|
rs756650711
|
0.00005
|
|
NM_001113378.2(FANCI):c.1248G>A (p.Gln416=)
|
rs998334333
|
0.00005
|
|
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)
|
rs376956791
|
0.00005
|
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
|
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp)
|
rs371568506
|
0.00005
|
|
NM_001113378.2(FANCI):c.1704T>C (p.His568=)
|
rs200990786
|
0.00005
|
|
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser)
|
rs573652425
|
0.00005
|
|
NM_001113378.2(FANCI):c.1891-3C>T
|
rs371578898
|
0.00005
|
|
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=)
|
rs762453164
|
0.00005
|
|
NM_001113378.2(FANCI):c.3007-7A>G
|
rs778906473
|
0.00005
|
|
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp)
|
rs149167939
|
0.00005
|
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
|
NM_001113378.2(FANCI):c.534C>T (p.Thr178=)
|
rs754733731
|
0.00005
|
|
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg)
|
rs772035961
|
0.00005
|
|
NM_002049.4(GATA1):c.1230G>A (p.Pro410=)
|
rs201176390
|
0.00005
|
|
NM_002049.4(GATA1):c.594C>A (p.Pro198=)
|
rs369844571
|
0.00005
|
|
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)
|
rs782698349
|
0.00005
|
|
NM_004629.2(FANCG):c.1158C>G (p.Pro386=)
|
rs201041980
|
0.00005
|
|
NM_004629.2(FANCG):c.1636+20G>A
|
rs369348926
|
0.00005
|
|
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu)
|
rs186641344
|
0.00005
|
|
NM_004629.2(FANCG):c.704C>T (p.Ala235Val)
|
rs574975594
|
0.00005
|
|
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)
|
rs759314410
|
0.00005
|
|
NM_004629.2(FANCG):c.933T>C (p.Asn311=)
|
rs1283707202
|
0.00005
|
|
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu)
|
rs750883282
|
0.00005
|
|
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn)
|
rs1238124123
|
0.00005
|
|
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)
|
rs150291286
|
0.00005
|
|
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met)
|
rs373906926
|
0.00005
|
|
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu)
|
rs750999717
|
0.00005
|
|
NM_018062.4(FANCL):c.261G>A (p.Leu87=)
|
rs1049409962
|
0.00005
|
|
NM_018062.4(FANCL):c.343A>G (p.Ile115Val)
|
rs149414332
|
0.00005
|
|
NM_018062.4(FANCL):c.374+18_374+29del
|
rs775890254
|
0.00005
|
|
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser)
|
rs1257244524
|
0.00005
|
|
NM_020937.4(FANCM):c.1328T>G (p.Phe443Cys)
|
rs549724218
|
0.00005
|
|
NM_020937.4(FANCM):c.1491dup (p.Gln498fs)
|
rs797045116
|
0.00005
|
|
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met)
|
rs149473953
|
0.00005
|
|
NM_020937.4(FANCM):c.2161-18A>G
|
rs780042399
|
0.00005
|
|
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys)
|
rs565347397
|
0.00005
|
|
NM_020937.4(FANCM):c.317A>G (p.Asn106Ser)
|
rs550700790
|
0.00005
|
|
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met)
|
rs151218879
|
0.00005
|
|
NM_020937.4(FANCM):c.3777A>G (p.Leu1259=)
|
rs759051559
|
0.00005
|
|
NM_020937.4(FANCM):c.4387-13C>T
|
rs548622939
|
0.00005
|
|
NM_020937.4(FANCM):c.4776G>A (p.Ser1592=)
|
rs964884247
|
0.00005
|
|
NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro)
|
rs751104662
|
0.00005
|
|
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro)
|
rs779858649
|
0.00005
|
|
NM_021922.3(FANCE):c.210G>A (p.Glu70=)
|
rs1008512809
|
0.00005
|
|
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)
|
rs768911543
|
0.00005
|
|
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)
|
rs759124595
|
0.00005
|
|
NM_021922.3(FANCE):c.656G>T (p.Arg219Ile)
|
rs551170184
|
0.00005
|
|
NM_021922.3(FANCE):c.856-3C>T
|
rs749111562
|
0.00005
|
|
NM_021922.3(FANCE):c.861G>A (p.Gln287=)
|
rs772248459
|
0.00005
|
|
NM_022725.4(FANCF):c.372C>G (p.Ala124=)
|
rs199705194
|
0.00005
|
|
NM_022725.4(FANCF):c.537G>A (p.Lys179=)
|
rs772589448
|
0.00005
|
|
NM_022725.4(FANCF):c.873A>G (p.Lys291=)
|
rs757578045
|
0.00005
|
|
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
|
NM_032043.3(BRIP1):c.1936-4C>T
|
rs587780552
|
0.00005
|
|
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
|
NM_032444.4(SLX4):c.1379G>A (p.Arg460His)
|
rs369994733
|
0.00005
|
|
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys)
|
rs139757085
|
0.00005
|
|
NM_032444.4(SLX4):c.1640C>T (p.Thr547Met)
|
rs755156257
|
0.00005
|
|
NM_032444.4(SLX4):c.1924+9C>T
|
rs767533009
|
0.00005
|
|
NM_032444.4(SLX4):c.1932C>T (p.Asp644=)
|
rs562351012
|
0.00005
|
|
NM_032444.4(SLX4):c.1941C>T (p.Pro647=)
|
rs540288743
|
0.00005
|
|
NM_032444.4(SLX4):c.1945G>A (p.Gly649Ser)
|
rs780269002
|
0.00005
|
|
NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr)
|
rs759223029
|
0.00005
|
|
NM_032444.4(SLX4):c.2100G>A (p.Gly700=)
|
rs755000337
|
0.00005
|
|
NM_032444.4(SLX4):c.2112C>T (p.Tyr704=)
|
rs566797597
|
0.00005
|
|
NM_032444.4(SLX4):c.2259C>G (p.His753Gln)
|
rs374294258
|
0.00005
|
|
NM_032444.4(SLX4):c.237T>C (p.Ala79=)
|
rs375620914
|
0.00005
|
|
NM_032444.4(SLX4):c.2612C>T (p.Ala871Val)
|
rs138259798
|
0.00005
|
|
NM_032444.4(SLX4):c.2869A>T (p.Ser957Cys)
|
rs776932605
|
0.00005
|
|
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys)
|
rs138798067
|
0.00005
|
|
NM_032444.4(SLX4):c.3061C>T (p.Arg1021Cys)
|
rs138344471
|
0.00005
|
|
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
|
rs140529288
|
0.00005
|
|
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys)
|
rs569194362
|
0.00005
|
|
NM_032444.4(SLX4):c.3409A>G (p.Arg1137Gly)
|
rs761238767
|
0.00005
|
|
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val)
|
rs186036075
|
0.00005
|
|
NM_032444.4(SLX4):c.3801T>C (p.Arg1267=)
|
rs772673695
|
0.00005
|
|
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg)
|
rs754996241
|
0.00005
|
|
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala)
|
rs151144102
|
0.00005
|
|
NM_032444.4(SLX4):c.4567G>C (p.Glu1523Gln)
|
rs148542931
|
0.00005
|
|
NM_032444.4(SLX4):c.461G>A (p.Arg154Gln)
|
rs778404827
|
0.00005
|
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
|
NM_032444.4(SLX4):c.4716G>A (p.Pro1572=)
|
rs372472816
|
0.00005
|
|
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys)
|
rs560866356
|
0.00005
|
|
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu)
|
rs771200478
|
0.00005
|
|
NM_032444.4(SLX4):c.528A>T (p.Lys176Asn)
|
rs778569160
|
0.00005
|
|
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys)
|
rs371875095
|
0.00005
|
|
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys)
|
rs762619200
|
0.00005
|
|
NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp)
|
rs199736788
|
0.00005
|
|
NM_032444.4(SLX4):c.621A>G (p.Gln207=)
|
rs747450611
|
0.00005
|
|
NM_032444.4(SLX4):c.668G>A (p.Arg223His)
|
rs762475814
|
0.00005
|
|
NM_058216.3(RAD51C):c.331C>T (p.Leu111Phe)
|
rs1402638488
|
0.00005
|
|
NM_000135.4(FANCA):c.1007-6C>T
|
rs770125368
|
0.00004
|
|
NM_000135.4(FANCA):c.1008A>G (p.Ala336=)
|
rs1460026241
|
0.00004
|
|
NM_000135.4(FANCA):c.1359+5G>C
|
rs183569738
|
0.00004
|
|
NM_000135.4(FANCA):c.1360-19C>T
|
rs766723015
|
0.00004
|
|
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met)
|
rs761957732
|
0.00004
|
|
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
|
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys)
|
rs201323171
|
0.00004
|
|
NM_000135.4(FANCA):c.1715+16G>A
|
rs752140435
|
0.00004
|
|
NM_000135.4(FANCA):c.1716-3C>T
|
rs760855591
|
0.00004
|
|
NM_000135.4(FANCA):c.1731T>G (p.Pro577=)
|
rs770851966
|
0.00004
|
|
NM_000135.4(FANCA):c.1777-13T>C
|
rs368496868
|
0.00004
|
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
|
NM_000135.4(FANCA):c.1799G>A (p.Arg600His)
|
rs775917892
|
0.00004
|
|
NM_000135.4(FANCA):c.1887A>G (p.Glu629=)
|
rs769662954
|
0.00004
|
|
NM_000135.4(FANCA):c.189+5G>A
|
rs373907502
|
0.00004
|
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
|
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp)
|
rs768520283
|
0.00004
|
|
NM_000135.4(FANCA):c.1929C>G (p.Pro643=)
|
rs1360940645
|
0.00004
|
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
|
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
|
rs537923341
|
0.00004
|
|
NM_000135.4(FANCA):c.2088C>T (p.Ser696=)
|
rs150917432
|
0.00004
|
|
NM_000135.4(FANCA):c.2090T>C (p.Val697Ala)
|
rs777863668
|
0.00004
|
|
NM_000135.4(FANCA):c.2222+14C>T
|
rs368973617
|
0.00004
|
|
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp)
|
rs763187355
|
0.00004
|
|
NM_000135.4(FANCA):c.2277T>G (p.Pro759=)
|
rs370053960
|
0.00004
|
|
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln)
|
rs377442601
|
0.00004
|
|
NM_000135.4(FANCA):c.2371C>T (p.Leu791=)
|
rs541949982
|
0.00004
|
|
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)
|
rs757468756
|
0.00004
|
|
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)
|
rs142869950
|
0.00004
|
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
|
NM_000135.4(FANCA):c.2602-16T>G
|
rs762865666
|
0.00004
|
|
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)
|
rs587778315
|
0.00004
|
|
NM_000135.4(FANCA):c.2982-15G>A
|
rs55718325
|
0.00004
|
|
NM_000135.4(FANCA):c.2982-8C>G
|
rs781331325
|
0.00004
|
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
|
NM_000135.4(FANCA):c.3226C>G (p.Leu1076Val)
|
rs368921238
|
0.00004
|
|
NM_000135.4(FANCA):c.3239+7C>T
|
rs775293779
|
0.00004
|
|
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=)
|
rs139126509
|
0.00004
|
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
|
NM_000135.4(FANCA):c.3409-6C>T
|
rs377428227
|
0.00004
|
|
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn)
|
rs375630115
|
0.00004
|
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
|
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=)
|
rs774029286
|
0.00004
|
|
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=)
|
rs553086820
|
0.00004
|
|
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
|
rs374537936
|
0.00004
|
|
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=)
|
rs187074190
|
0.00004
|
|
NM_000135.4(FANCA):c.3693C>T (p.His1231=)
|
rs144524132
|
0.00004
|
|
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu)
|
rs576079738
|
0.00004
|
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
|
NM_000135.4(FANCA):c.4084T>C (p.Leu1362=)
|
rs775351812
|
0.00004
|
|
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)
|
rs760814763
|
0.00004
|
|
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=)
|
rs368985041
|
0.00004
|
|
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=)
|
rs367630825
|
0.00004
|
|
NM_000135.4(FANCA):c.445T>G (p.Leu149Val)
|
rs372814783
|
0.00004
|
|
NM_000135.4(FANCA):c.498C>T (p.Phe166=)
|
rs757941026
|
0.00004
|
|
NM_000135.4(FANCA):c.596+6G>A
|
rs369548513
|
0.00004
|
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
|
NM_000135.4(FANCA):c.826+13C>G
|
rs34240625
|
0.00004
|
|
NM_000135.4(FANCA):c.827-6C>G
|
rs756991336
|
0.00004
|
|
NM_000135.4(FANCA):c.894-15C>T
|
rs753166995
|
0.00004
|
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
|
NM_000135.4(FANCA):c.957C>G (p.Phe319Leu)
|
rs17226068
|
0.00004
|
|
NM_000135.4(FANCA):c.984C>T (p.Leu328=)
|
rs907022035
|
0.00004
|
|
NM_000136.3(FANCC):c.-18C>G
|
rs762660689
|
0.00004
|
|
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp)
|
rs140348260
|
0.00004
|
|
NM_000136.3(FANCC):c.1073-4G>A
|
rs147695697
|
0.00004
|
|
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)
|
rs730881725
|
0.00004
|
|
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)
|
rs201379302
|
0.00004
|
|
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys)
|
rs752855423
|
0.00004
|
|
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)
|
rs587779902
|
0.00004
|
|
NM_000136.3(FANCC):c.1623T>G (p.Pro541=)
|
rs375362894
|
0.00004
|
|
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg)
|
rs777111154
|
0.00004
|
|
NM_000136.3(FANCC):c.250+15C>T
|
rs200138313
|
0.00004
|
|
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)
|
rs147479204
|
0.00004
|
|
NM_000136.3(FANCC):c.457-12T>A
|
rs188659251
|
0.00004
|
|
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr)
|
rs950623649
|
0.00004
|
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
|
NM_000136.3(FANCC):c.626G>A (p.Arg209His)
|
rs587778327
|
0.00004
|
|
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)
|
rs778966663
|
0.00004
|
|
NM_000136.3(FANCC):c.9A>T (p.Gln3His)
|
rs769585639
|
0.00004
|
|
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)
|
rs200075817
|
0.00004
|
|
NM_000969.5(RPL5):c.781G>C (p.Val261Leu)
|
rs773839391
|
0.00004
|
|
NM_000975.5(RPL11):c.117G>A (p.Val39=)
|
rs746752024
|
0.00004
|
|
NM_000975.5(RPL11):c.6+16C>T
|
rs369905301
|
0.00004
|
|
NM_000975.5(RPL11):c.6+8G>C
|
rs201469553
|
0.00004
|
|
NM_000987.5(RPL26):c.169-5C>G
|
rs746381469
|
0.00004
|
|
NM_001011.4(RPS7):c.285C>T (p.Ile95=)
|
rs368931076
|
0.00004
|
|
NM_001011.4(RPS7):c.435C>T (p.Arg145=)
|
rs142207795
|
0.00004
|
|
NM_001014.5(RPS10):c.204C>T (p.Tyr68=)
|
rs368563040
|
0.00004
|
|
NM_001014.5(RPS10):c.400+17C>G
|
rs766650777
|
0.00004
|
|
NM_001014.5(RPS10):c.400C>T (p.Pro134Ser)
|
rs759213353
|
0.00004
|
|
NM_001014.5(RPS10):c.432T>G (p.Ala144=)
|
rs199758134
|
0.00004
|
|
NM_001014.5(RPS10):c.479G>A (p.Arg160His)
|
rs139095177
|
0.00004
|
|
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)
|
rs866138487
|
0.00004
|
|
NM_001018113.3(FANCB):c.1323G>A (p.Glu441=)
|
rs1015824799
|
0.00004
|
|
NM_001018113.3(FANCB):c.162A>G (p.Thr54=)
|
rs748284861
|
0.00004
|
|
NM_001018113.3(FANCB):c.2394C>T (p.Val798=)
|
rs190579053
|
0.00004
|
|
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg)
|
rs146131050
|
0.00004
|
|
NM_001018113.3(FANCB):c.513G>A (p.Gln171=)
|
rs763353362
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1134+10A>G
|
rs758751922
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)
|
rs765378218
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met)
|
rs373898927
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1657-15A>G
|
rs753419823
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr)
|
rs774801047
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1740C>T (p.Thr580=)
|
rs200041772
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1802A>G (p.Asn601Ser)
|
rs955122662
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn)
|
rs145170666
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=)
|
rs773593671
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg)
|
rs533245636
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2422A>G (p.Met808Val)
|
rs375415579
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)
|
rs766567785
|
0.00004
|
|
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)
|
rs767659342
|
0.00004
|
|
NM_001018115.3(FANCD2):c.274-6_274-4del
|
rs762278011
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile)
|
rs764903036
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2744C>T (p.Ser915Leu)
|
rs181274599
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu)
|
rs1479681259
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3106-13T>G
|
rs759732362
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3193C>T (p.Leu1065=)
|
rs1267933900
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3276T>C (p.His1092=)
|
rs773833838
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3334A>G (p.Ser1112Gly)
|
rs139929432
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3343G>A (p.Val1115Ile)
|
rs200800132
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3483A>G (p.Gln1161=)
|
rs143403347
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3735G>A (p.Thr1245=)
|
rs750130327
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His)
|
rs781701459
|
0.00004
|
|
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met)
|
rs775898191
|
0.00004
|
|
NM_001018115.3(FANCD2):c.4186-5T>C
|
rs763801603
|
0.00004
|
|
NM_001018115.3(FANCD2):c.4281+107T>C
|
rs767893462
|
0.00004
|
|
NM_001018115.3(FANCD2):c.595C>G (p.Leu199Val)
|
rs756336462
|
0.00004
|
|
NM_001018115.3(FANCD2):c.695+19A>G
|
rs369890094
|
0.00004
|
|
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro)
|
rs748724233
|
0.00004
|
|
NM_001022.4(RPS19):c.10G>T (p.Val4Phe)
|
rs782693679
|
0.00004
|
|
NM_001022.4(RPS19):c.192G>C (p.Leu64=)
|
rs144069838
|
0.00004
|
|
NM_001022.4(RPS19):c.6T>G (p.Pro2=)
|
rs782512026
|
0.00004
|
|
NM_001022.4(RPS19):c.72-17C>G
|
rs150151184
|
0.00004
|
|
NM_001029.5(RPS26):c.181+6T>G
|
rs201848035
|
0.00004
|
|
NM_001029.5(RPS26):c.270A>G (p.Glu90=)
|
rs139056836
|
0.00004
|
|
NM_001113378.2(FANCI):c.1113-11T>C
|
rs112986525
|
0.00004
|
|
NM_001113378.2(FANCI):c.1146C>T (p.Leu382=)
|
rs773475822
|
0.00004
|
|
NM_001113378.2(FANCI):c.1200T>C (p.Asp400=)
|
rs763959132
|
0.00004
|
|
NM_001113378.2(FANCI):c.157+7A>G
|
rs145165730
|
0.00004
|
|
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr)
|
rs147963936
|
0.00004
|
|
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser)
|
rs866290050
|
0.00004
|
|
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn)
|
rs374176569
|
0.00004
|
|
NM_001113378.2(FANCI):c.179C>G (p.Ala60Gly)
|
rs757018470
|
0.00004
|
|
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys)
|
rs764435343
|
0.00004
|
|
NM_001113378.2(FANCI):c.2097C>T (p.Tyr699=)
|
rs148415946
|
0.00004
|
|
NM_001113378.2(FANCI):c.2146A>G (p.Ser716Gly)
|
rs376641420
|
0.00004
|
|
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)
|
rs752114490
|
0.00004
|
|
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=)
|
rs139857614
|
0.00004
|
|
NM_001113378.2(FANCI):c.2419A>G (p.Met807Val)
|
rs750348956
|
0.00004
|
|
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
|
rs145665176
|
0.00004
|
|
NM_001113378.2(FANCI):c.277C>T (p.Leu93=)
|
rs995731282
|
0.00004
|
|
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=)
|
rs368915464
|
0.00004
|
|
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met)
|
rs138432305
|
0.00004
|
|
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser)
|
rs182154506
|
0.00004
|
|
NM_001113378.2(FANCI):c.3006+10C>T
|
rs753914878
|
0.00004
|
|
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg)
|
rs1207482417
|
0.00004
|
|
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln)
|
rs772401747
|
0.00004
|
|
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=)
|
rs185771112
|
0.00004
|
|
NM_001113378.2(FANCI):c.3720+10T>C
|
rs756636181
|
0.00004
|
|
NM_001113378.2(FANCI):c.3721-15G>A
|
rs552581027
|
0.00004
|
|
NM_001113378.2(FANCI):c.3734G>T (p.Arg1245Leu)
|
rs771758909
|
0.00004
|
|
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr)
|
rs776134519
|
0.00004
|
|
NM_001113378.2(FANCI):c.445+14G>A
|
rs762378388
|
0.00004
|
|
NM_001113378.2(FANCI):c.550G>C (p.Val184Leu)
|
rs571745030
|
0.00004
|
|
NM_001113378.2(FANCI):c.772A>G (p.Thr258Ala)
|
rs773039171
|
0.00004
|
|
NM_001113378.2(FANCI):c.883-16_883-15del
|
rs763087620
|
0.00004
|
|
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile)
|
rs199713555
|
0.00004
|
|
NM_001113378.2(FANCI):c.993G>A (p.Lys331=)
|
rs146916445
|
0.00004
|
|
NM_001113525.2(ZNF276):c.*2548T>C
|
rs368372404
|
0.00004
|
|
NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp)
|
rs202091014
|
0.00004
|
|
NM_002049.4(GATA1):c.621C>T (p.Cys207=)
|
rs782785151
|
0.00004
|
|
NM_002049.4(GATA1):c.870+8C>T
|
rs370706809
|
0.00004
|
|
NM_002049.4(GATA1):c.982G>A (p.Glu328Lys)
|
rs1418790540
|
0.00004
|
|
NM_004629.2(FANCG):c.1510A>C (p.Lys504Gln)
|
rs1304316655
|
0.00004
|
|
NM_004629.2(FANCG):c.1521G>A (p.Ala507=)
|
rs373411028
|
0.00004
|
|
NM_004629.2(FANCG):c.18C>T (p.Thr6=)
|
rs777459203
|
0.00004
|
|
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln)
|
rs372854981
|
0.00004
|
|
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
|
NM_004629.2(FANCG):c.422G>A (p.Arg141His)
|
rs775719850
|
0.00004
|
|
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)
|
rs200677800
|
0.00004
|
|
NM_004629.2(FANCG):c.795A>T (p.Ala265=)
|
rs537570311
|
0.00004
|
|
NM_004629.2(FANCG):c.832dup (p.Ala278fs)
|
rs1290655946
|
0.00004
|
|
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg)
|
rs886063897
|
0.00004
|
|
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg)
|
rs765722724
|
0.00004
|
|
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=)
|
rs144305111
|
0.00004
|
|
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)
|
rs572439259
|
0.00004
|
|
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser)
|
rs139197943
|
0.00004
|
|
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu)
|
rs775278986
|
0.00004
|
|
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)
|
rs763332387
|
0.00004
|
|
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln)
|
rs56129764
|
0.00004
|
|
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)
|
rs775414253
|
0.00004
|
|
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn)
|
rs779096061
|
0.00004
|
|
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His)
|
rs758565772
|
0.00004
|
|
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)
|
rs746576915
|
0.00004
|
|
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=)
|
rs770255135
|
0.00004
|
|
NM_005236.3(ERCC4):c.2466G>A (p.Gln822=)
|
rs757316495
|
0.00004
|
|
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=)
|
rs191674905
|
0.00004
|
|
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr)
|
rs374243778
|
0.00004
|
|
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys)
|
rs373570729
|
0.00004
|
|
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu)
|
rs148904556
|
0.00004
|
|
NM_005236.3(ERCC4):c.906T>C (p.Asp302=)
|
rs148003381
|
0.00004
|
|
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)
|
rs762052950
|
0.00004
|
|
NM_018062.4(FANCL):c.1050G>T (p.Gln350His)
|
rs760542163
|
0.00004
|
|
NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn)
|
rs145260146
|
0.00004
|
|
NM_018062.4(FANCL):c.155+7T>C
|
rs200849840
|
0.00004
|
|
NM_018062.4(FANCL):c.208G>A (p.Val70Ile)
|
rs758754024
|
0.00004
|
|
NM_018062.4(FANCL):c.375-15T>C
|
rs767038810
|
0.00004
|
|
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)
|
rs371154063
|
0.00004
|
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
|
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)
|
rs201084086
|
0.00004
|
|
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)
|
rs199564543
|
0.00004
|
|
NM_018062.4(FANCL):c.739A>G (p.Met247Val)
|
rs561027973
|
0.00004
|
|
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)
|
rs139801716
|
0.00004
|
|
NM_020937.4(FANCM):c.1051-12C>T
|
rs374855389
|
0.00004
|
|
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp)
|
rs752364451
|
0.00004
|
|
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr)
|
rs201596252
|
0.00004
|
|
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser)
|
rs146291619
|
0.00004
|
|
NM_020937.4(FANCM):c.1752G>A (p.Arg584=)
|
rs373696744
|
0.00004
|
|
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter)
|
rs773014744
|
0.00004
|
|
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp)
|
rs112784867
|
0.00004
|
|
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg)
|
rs756249141
|
0.00004
|
|
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser)
|
rs751262177
|
0.00004
|
|
NM_020937.4(FANCM):c.2311G>A (p.Glu771Lys)
|
rs760204880
|
0.00004
|
|
NM_020937.4(FANCM):c.231C>T (p.Thr77=)
|
rs377164876
|
0.00004
|
|
NM_020937.4(FANCM):c.232T>C (p.Ser78Pro)
|
rs995677452
|
0.00004
|
|
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu)
|
rs774142261
|
0.00004
|
|
NM_020937.4(FANCM):c.3104C>A (p.Thr1035Asn)
|
rs1411559650
|
0.00004
|
|
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe)
|
rs147299864
|
0.00004
|
|
NM_020937.4(FANCM):c.3405G>T (p.Leu1135=)
|
rs1318683898
|
0.00004
|
|
NM_020937.4(FANCM):c.3433G>A (p.Asp1145Asn)
|
rs753249049
|
0.00004
|
|
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe)
|
rs952413457
|
0.00004
|
|
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu)
|
rs753876341
|
0.00004
|
|
NM_020937.4(FANCM):c.3882T>C (p.Val1294=)
|
rs774984454
|
0.00004
|
|
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
|
rs771311008
|
0.00004
|
|
NM_020937.4(FANCM):c.4222+5G>A
|
rs201544504
|
0.00004
|
|
NM_020937.4(FANCM):c.4406A>G (p.Asp1469Gly)
|
rs368457419
|
0.00004
|
|
NM_020937.4(FANCM):c.4820G>A (p.Cys1607Tyr)
|
rs769869730
|
0.00004
|
|
NM_020937.4(FANCM):c.486A>C (p.Gln162His)
|
rs149517732
|
0.00004
|
|
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr)
|
rs369365858
|
0.00004
|
|
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr)
|
rs767619000
|
0.00004
|
|
NM_020937.4(FANCM):c.5340+1G>T
|
rs754297345
|
0.00004
|
|
NM_020937.4(FANCM):c.5532A>G (p.Gln1844=)
|
rs970724368
|
0.00004
|
|
NM_020937.4(FANCM):c.5545C>A (p.Pro1849Thr)
|
rs1359477676
|
0.00004
|
|
NM_020937.4(FANCM):c.5919C>A (p.Leu1973=)
|
rs368568579
|
0.00004
|
|
NM_020937.4(FANCM):c.685G>T (p.Val229Leu)
|
rs572322789
|
0.00004
|
|
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu)
|
rs781381334
|
0.00004
|
|
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp)
|
rs567313440
|
0.00004
|
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
|
NM_021922.3(FANCE):c.1238-13G>C
|
rs756557647
|
0.00004
|
|
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg)
|
rs996436646
|
0.00004
|
|
NM_021922.3(FANCE):c.1509C>T (p.Asn503=)
|
rs147166240
|
0.00004
|
|
NM_021922.3(FANCE):c.312C>T (p.Ala104=)
|
rs575747751
|
0.00004
|
|
NM_021922.3(FANCE):c.499C>T (p.Leu167=)
|
rs140563583
|
0.00004
|
|
NM_021922.3(FANCE):c.84C>T (p.Leu28=)
|
rs1160645936
|
0.00004
|
|
NM_021922.3(FANCE):c.856-11C>G
|
rs756018135
|
0.00004
|
|
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys)
|
rs747078723
|
0.00004
|
|
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys)
|
rs754914337
|
0.00004
|
|
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg)
|
rs201528578
|
0.00004
|
|
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser)
|
rs372935921
|
0.00004
|
|
NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe)
|
rs368170054
|
0.00004
|
|
NM_022725.4(FANCF):c.126C>T (p.Arg42=)
|
rs764431374
|
0.00004
|
|
NM_022725.4(FANCF):c.360C>T (p.Gly120=)
|
rs775422716
|
0.00004
|
|
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser)
|
rs377309460
|
0.00004
|
|
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly)
|
rs540547787
|
0.00004
|
|
NM_022725.4(FANCF):c.714C>T (p.Val238=)
|
rs774956968
|
0.00004
|
|
NM_022725.4(FANCF):c.796C>T (p.Arg266Cys)
|
rs145666363
|
0.00004
|
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
|
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn)
|
rs759835916
|
0.00004
|
|
NM_032043.3(BRIP1):c.1443T>C (p.Gly481=)
|
rs775431508
|
0.00004
|
|
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=)
|
rs373709958
|
0.00004
|
|
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr)
|
rs369340666
|
0.00004
|
|
NM_032043.3(BRIP1):c.1695A>C (p.Ser565=)
|
rs142572387
|
0.00004
|
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
|
NM_032043.3(BRIP1):c.1935+7T>C
|
rs201024366
|
0.00004
|
|
NM_032043.3(BRIP1):c.2097+20T>G
|
rs771066665
|
0.00004
|
|
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)
|
rs748616469
|
0.00004
|
|
NM_032043.3(BRIP1):c.2193A>G (p.Glu731=)
|
rs781712098
|
0.00004
|
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
|
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)
|
rs776990704
|
0.00004
|
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
|
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu)
|
rs183928474
|
0.00004
|
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
|
NM_032043.3(BRIP1):c.380A>G (p.Asp127Gly)
|
rs1170174893
|
0.00004
|
|
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)
|
rs876658195
|
0.00004
|
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
|
NM_032043.3(BRIP1):c.69G>A (p.Pro23=)
|
rs45458996
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_032444.4(SLX4):c.1163+3A>G
|
rs765509115
|
0.00004
|
|
NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln)
|
rs779596439
|
0.00004
|
|
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val)
|
rs551823420
|
0.00004
|
|
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)
|
rs752899329
|
0.00004
|
|
NM_032444.4(SLX4):c.162C>A (p.Leu54=)
|
rs776979024
|
0.00004
|
|
NM_032444.4(SLX4):c.1662C>T (p.Leu554=)
|
rs375996119
|
0.00004
|
|
NM_032444.4(SLX4):c.1740C>T (p.Ser580=)
|
rs200354014
|
0.00004
|
|
NM_032444.4(SLX4):c.1764C>T (p.His588=)
|
rs201638593
|
0.00004
|
|
NM_032444.4(SLX4):c.1824G>A (p.Glu608=)
|
rs1028896815
|
0.00004
|
|
NM_032444.4(SLX4):c.1846G>A (p.Val616Met)
|
rs199863797
|
0.00004
|
|
NM_032444.4(SLX4):c.1873G>A (p.Ala625Thr)
|
rs200755122
|
0.00004
|
|
NM_032444.4(SLX4):c.1888G>A (p.Gly630Ser)
|
rs376620029
|
0.00004
|
|
NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg)
|
rs767473953
|
0.00004
|
|
NM_032444.4(SLX4):c.2046C>T (p.Gly682=)
|
rs762708132
|
0.00004
|
|
NM_032444.4(SLX4):c.2193C>T (p.Asp731=)
|
rs551541558
|
0.00004
|
|
NM_032444.4(SLX4):c.2340T>C (p.Ser780=)
|
rs935117725
|
0.00004
|
|
NM_032444.4(SLX4):c.2346C>T (p.Leu782=)
|
rs775150046
|
0.00004
|
|
NM_032444.4(SLX4):c.246C>T (p.Asn82=)
|
rs1021522087
|
0.00004
|
|
NM_032444.4(SLX4):c.2490G>A (p.Ala830=)
|
rs753595071
|
0.00004
|
|
NM_032444.4(SLX4):c.2500T>C (p.Leu834=)
|
rs755984266
|
0.00004
|
|
NM_032444.4(SLX4):c.2613G>A (p.Ala871=)
|
rs549139986
|
0.00004
|
|
NM_032444.4(SLX4):c.2623G>A (p.Glu875Lys)
|
rs372976873
|
0.00004
|
|
NM_032444.4(SLX4):c.2864A>G (p.His955Arg)
|
rs143694260
|
0.00004
|
|
NM_032444.4(SLX4):c.2991G>A (p.Pro997=)
|
rs770736311
|
0.00004
|
|
NM_032444.4(SLX4):c.3009G>C (p.Glu1003Asp)
|
rs142047326
|
0.00004
|
|
NM_032444.4(SLX4):c.3012C>T (p.Pro1004=)
|
rs533668167
|
0.00004
|
|
NM_032444.4(SLX4):c.3108A>G (p.Leu1036=)
|
rs751431046
|
0.00004
|
|
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg)
|
rs142079276
|
0.00004
|
|
NM_032444.4(SLX4):c.3235C>T (p.Pro1079Ser)
|
rs373231418
|
0.00004
|
|
NM_032444.4(SLX4):c.3310C>T (p.Arg1104Trp)
|
rs752187463
|
0.00004
|
|
NM_032444.4(SLX4):c.3439G>A (p.Glu1147Lys)
|
rs974413437
|
0.00004
|
|
NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala)
|
rs752941190
|
0.00004
|
|
NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu)
|
rs376133540
|
0.00004
|
|
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn)
|
rs372991604
|
0.00004
|
|
NM_032444.4(SLX4):c.3781C>T (p.Pro1261Ser)
|
rs141860134
|
0.00004
|
|
NM_032444.4(SLX4):c.3782C>T (p.Pro1261Leu)
|
rs374056556
|
0.00004
|
|
NM_032444.4(SLX4):c.3850G>A (p.Val1284Met)
|
rs373107728
|
0.00004
|
|
NM_032444.4(SLX4):c.3873G>A (p.Thr1291=)
|
rs751302297
|
0.00004
|
|
NM_032444.4(SLX4):c.3950C>T (p.Pro1317Leu)
|
rs375172024
|
0.00004
|
|
NM_032444.4(SLX4):c.4034G>A (p.Arg1345His)
|
rs757202686
|
0.00004
|
|
NM_032444.4(SLX4):c.4097G>A (p.Arg1366His)
|
rs375108717
|
0.00004
|
|
NM_032444.4(SLX4):c.4109G>A (p.Ser1370Asn)
|
rs747599109
|
0.00004
|
|
NM_032444.4(SLX4):c.4133C>T (p.Pro1378Leu)
|
rs371580654
|
0.00004
|
|
NM_032444.4(SLX4):c.4157A>G (p.Gln1386Arg)
|
rs774060802
|
0.00004
|
|
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)
|
rs953994627
|
0.00004
|
|
NM_032444.4(SLX4):c.4268T>C (p.Ile1423Thr)
|
rs1056055996
|
0.00004
|
|
NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu)
|
rs776332160
|
0.00004
|
|
NM_032444.4(SLX4):c.4390A>G (p.Ser1464Gly)
|
rs750635051
|
0.00004
|
|
NM_032444.4(SLX4):c.4394G>A (p.Arg1465His)
|
rs757128699
|
0.00004
|
|
NM_032444.4(SLX4):c.4429C>T (p.Pro1477Ser)
|
rs912385590
|
0.00004
|
|
NM_032444.4(SLX4):c.4446C>T (p.Cys1482=)
|
rs1331923595
|
0.00004
|
|
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=)
|
rs200536796
|
0.00004
|
|
NM_032444.4(SLX4):c.4637-17T>G
|
rs112687420
|
0.00004
|
|
NM_032444.4(SLX4):c.4740-19C>T
|
rs770943153
|
0.00004
|
|
NM_032444.4(SLX4):c.4740-5G>A
|
rs372656323
|
0.00004
|
|
NM_032444.4(SLX4):c.4740-6C>T
|
rs377066518
|
0.00004
|
|
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys)
|
rs181782315
|
0.00004
|
|
NM_032444.4(SLX4):c.4857G>A (p.Pro1619=)
|
rs146423772
|
0.00004
|
|
NM_032444.4(SLX4):c.4871C>T (p.Pro1624Leu)
|
rs751763192
|
0.00004
|
|
NM_032444.4(SLX4):c.489T>G (p.Gly163=)
|
rs201211891
|
0.00004
|
|
NM_032444.4(SLX4):c.4964G>A (p.Arg1655Lys)
|
rs149726415
|
0.00004
|
|
NM_032444.4(SLX4):c.499G>A (p.Glu167Lys)
|
rs151018140
|
0.00004
|
|
NM_032444.4(SLX4):c.5141T>G (p.Leu1714Trp)
|
rs569861974
|
0.00004
|
|
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val)
|
rs752633436
|
0.00004
|
|
NM_032444.4(SLX4):c.5291C>T (p.Pro1764Leu)
|
rs1031274414
|
0.00004
|
|
NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln)
|
rs780261532
|
0.00004
|
|
NM_032444.4(SLX4):c.535+8G>C
|
rs1438562094
|
0.00004
|
|
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
|
rs560381786
|
0.00004
|
|
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=)
|
rs368848191
|
0.00004
|
|
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn)
|
rs760435859
|
0.00004
|
|
NM_032444.4(SLX4):c.5427C>T (p.Thr1809=)
|
rs999815509
|
0.00004
|
|
NM_032444.4(SLX4):c.570T>G (p.Pro190=)
|
rs764067884
|
0.00004
|
|
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu)
|
rs199929086
|
0.00004
|
|
NM_032444.4(SLX4):c.800C>T (p.Ala267Val)
|
rs752160984
|
0.00004
|
|
NM_032444.4(SLX4):c.950+3G>T
|
rs748822509
|
0.00004
|
|
NM_033022.4(RPS24):c.276A>T (p.Ala92=)
|
rs763876559
|
0.00004
|
|
NM_033022.4(RPS24):c.391-14C>T
|
rs201639485
|
0.00004
|
|
NM_033022.4(RPS24):c.69+10G>A
|
rs767375848
|
0.00004
|
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
|
NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)
|
rs28910276
|
0.00004
|
|
NM_058216.3(RAD51C):c.52C>T (p.Pro18Ser)
|
rs547142453
|
0.00004
|
|
NM_058216.3(RAD51C):c.546T>G (p.Leu182=)
|
rs1476282276
|
0.00004
|
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
|
NM_058216.3(RAD51C):c.883G>A (p.Ala295Thr)
|
rs746571208
|
0.00004
|
|
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln)
|
rs367846829
|
0.00004
|
|
NM_000135.4(FANCA):c.1006+19C>A
|
rs371384565
|
0.00003
|
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
|
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp)
|
rs150290184
|
0.00003
|
|
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val)
|
rs748337423
|
0.00003
|
|
NM_000135.4(FANCA):c.1084-8T>C
|
rs1466884693
|
0.00003
|
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
|
NM_000135.4(FANCA):c.12G>C (p.Ser4=)
|
rs1009539881
|
0.00003
|
|
NM_000135.4(FANCA):c.135A>G (p.Glu45=)
|
rs141820040
|
0.00003
|
|
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
|
rs768676657
|
0.00003
|
|
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
|
rs143083764
|
0.00003
|
|
NM_000135.4(FANCA):c.1543A>C (p.Lys515Gln)
|
rs1355805026
|
0.00003
|
|
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr)
|
rs752323052
|
0.00003
|
|
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=)
|
rs762342197
|
0.00003
|
|
NM_000135.4(FANCA):c.1710G>A (p.Glu570=)
|
rs17226344
|
0.00003
|
|
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
|
rs769158149
|
0.00003
|
|
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)
|
rs778093769
|
0.00003
|
|
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe)
|
rs1060501885
|
0.00003
|
|
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)
|
rs773613283
|
0.00003
|
|
NM_000135.4(FANCA):c.1901-9T>C
|
rs886052486
|
0.00003
|
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
|
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg)
|
rs1481598103
|
0.00003
|
|
NM_000135.4(FANCA):c.2014+12T>A
|
rs370998253
|
0.00003
|
|
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met)
|
rs777032467
|
0.00003
|
|
NM_000135.4(FANCA):c.2222+9G>C
|
rs774316742
|
0.00003
|
|
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys)
|
rs1354855145
|
0.00003
|
|
NM_000135.4(FANCA):c.2317-7G>A
|
rs763945801
|
0.00003
|
|
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val)
|
rs756082739
|
0.00003
|
|
NM_000135.4(FANCA):c.2504+12T>C
|
rs1299971836
|
0.00003
|
|
NM_000135.4(FANCA):c.2661C>T (p.Asp887=)
|
rs145941808
|
0.00003
|
|
NM_000135.4(FANCA):c.2847T>C (p.Thr949=)
|
rs570751234
|
0.00003
|
|
NM_000135.4(FANCA):c.2851C>A (p.Arg951=)
|
rs755546887
|
0.00003
|
|
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)
|
rs587778317
|
0.00003
|
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
|
NM_000135.4(FANCA):c.2964G>C (p.Leu988=)
|
rs751495133
|
0.00003
|
|
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)
|
rs750421982
|
0.00003
|
|
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu)
|
rs140412064
|
0.00003
|
|
NM_000135.4(FANCA):c.3024T>C (p.Phe1008=)
|
rs970239067
|
0.00003
|
|
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)
|
rs142379991
|
0.00003
|
|
NM_000135.4(FANCA):c.3240-4C>G
|
rs778933108
|
0.00003
|
|
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His)
|
rs752642945
|
0.00003
|
|
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)
|
rs779268656
|
0.00003
|
|
NM_000135.4(FANCA):c.3349-11C>A
|
rs1190325114
|
0.00003
|
|
NM_000135.4(FANCA):c.3349-19G>T
|
rs377180908
|
0.00003
|
|
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
|
rs370731587
|
0.00003
|
|
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)
|
rs768851109
|
0.00003
|
|
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)
|
rs748263867
|
0.00003
|
|
NM_000135.4(FANCA):c.3514-17T>C
|
rs1183051961
|
0.00003
|
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
|
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
|
rs780035612
|
0.00003
|
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
|
NM_000135.4(FANCA):c.3627-9C>T
|
rs547300201
|
0.00003
|
|
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=)
|
rs780031277
|
0.00003
|
|
NM_000135.4(FANCA):c.3699G>A (p.Ala1233=)
|
rs371798854
|
0.00003
|
|
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)
|
rs750773229
|
0.00003
|
|
NM_000135.4(FANCA):c.3828+1G>C
|
rs1432988639
|
0.00003
|
|
NM_000135.4(FANCA):c.385G>T (p.Ala129Ser)
|
rs374945563
|
0.00003
|
|
NM_000135.4(FANCA):c.3924G>A (p.Leu1308=)
|
rs775127240
|
0.00003
|
|
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr)
|
rs925649874
|
0.00003
|
|
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly)
|
rs778544563
|
0.00003
|
|
NM_000135.4(FANCA):c.4038G>A (p.Ala1346=)
|
rs755479861
|
0.00003
|
|
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser)
|
rs750839091
|
0.00003
|
|
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)
|
rs1254151716
|
0.00003
|
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
|
NM_000135.4(FANCA):c.426+13C>T
|
rs755598667
|
0.00003
|
|
NM_000135.4(FANCA):c.4365C>T (p.Phe1455=)
|
rs1440013855
|
0.00003
|
|
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)
|
rs774448881
|
0.00003
|
|
NM_000135.4(FANCA):c.522+9G>C
|
rs113051956
|
0.00003
|
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
|
NM_000135.4(FANCA):c.576C>T (p.Ser192=)
|
rs150448150
|
0.00003
|
|
NM_000135.4(FANCA):c.596+12A>G
|
rs377151927
|
0.00003
|
|
NM_000135.4(FANCA):c.793-10A>T
|
rs368979136
|
0.00003
|
|
NM_000135.4(FANCA):c.81G>A (p.Ala27=)
|
rs150247726
|
0.00003
|
|
NM_000136.3(FANCC):c.1073-20G>A
|
rs781438798
|
0.00003
|
|
NM_000136.3(FANCC):c.111C>T (p.His37=)
|
rs751219956
|
0.00003
|
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
|
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly)
|
rs863224608
|
0.00003
|
|
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)
|
rs374836770
|
0.00003
|
|
NM_000136.3(FANCC):c.1330-6G>T
|
rs1223668739
|
0.00003
|
|
NM_000136.3(FANCC):c.1353C>T (p.Gly451=)
|
rs745338413
|
0.00003
|
|
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)
|
rs730881724
|
0.00003
|
|
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys)
|
rs761845692
|
0.00003
|
|
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)
|
rs55939573
|
0.00003
|
|
NM_000136.3(FANCC):c.1611C>A (p.Gly537=)
|
rs1027358273
|
0.00003
|
|
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln)
|
rs730881729
|
0.00003
|
|
NM_000136.3(FANCC):c.165+8del
|
rs1281745385
|
0.00003
|
|
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys)
|
rs375921240
|
0.00003
|
|
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser)
|
rs1064793405
|
0.00003
|
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
|
NM_000136.3(FANCC):c.46A>T (p.Met16Leu)
|
rs1390412870
|
0.00003
|
|
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln)
|
rs755283850
|
0.00003
|
|
NM_000136.3(FANCC):c.528T>C (p.Ala176=)
|
rs1237481707
|
0.00003
|
|
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln)
|
rs889715188
|
0.00003
|
|
NM_000136.3(FANCC):c.830A>T (p.Lys277Ile)
|
rs1349398241
|
0.00003
|
|
NM_000136.3(FANCC):c.902C>A (p.Ala301Glu)
|
rs553689536
|
0.00003
|
|
NM_000136.3(FANCC):c.906C>G (p.Leu302=)
|
rs766079351
|
0.00003
|
|
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg)
|
rs374915316
|
0.00003
|
|
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
|
rs775952185
|
0.00003
|
|
NM_000969.5(RPL5):c.320G>A (p.Arg107His)
|
rs751845365
|
0.00003
|
|
NM_000969.5(RPL5):c.517A>G (p.Ile173Val)
|
rs754245145
|
0.00003
|
|
NM_000969.5(RPL5):c.599T>C (p.Met200Thr)
|
rs773325598
|
0.00003
|
|
NM_000996.4(RPL35A):c.184G>T (p.Gly62Cys)
|
rs146882967
|
0.00003
|
|
NM_000996.4(RPL35A):c.327G>A (p.Arg109=)
|
rs754407977
|
0.00003
|
|
NM_001011.4(RPS7):c.63C>T (p.Ser21=)
|
rs145376788
|
0.00003
|
|
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu)
|
rs755445102
|
0.00003
|
|
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu)
|
rs143585647
|
0.00003
|
|
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His)
|
rs776805534
|
0.00003
|
|
NM_001018113.3(FANCB):c.1638A>T (p.Gly546=)
|
rs753355273
|
0.00003
|
|
NM_001018113.3(FANCB):c.1899A>G (p.Leu633=)
|
rs1232908863
|
0.00003
|
|
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala)
|
rs184796918
|
0.00003
|
|
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys)
|
rs780116069
|
0.00003
|
|
NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly)
|
rs1041477988
|
0.00003
|
|
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met)
|
rs775216604
|
0.00003
|
|
NM_001018113.3(FANCB):c.677T>C (p.Ile226Thr)
|
rs1275915380
|
0.00003
|
|
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu)
|
rs1316961996
|
0.00003
|
|
NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly)
|
rs139111718
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1011C>A (p.Ser337Arg)
|
rs748171507
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1221T>C (p.Ile407=)
|
rs745305575
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1234A>G (p.Ile412Val)
|
rs776482951
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1440T>C (p.His480=)
|
rs375412395
|
0.00003
|
|
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu)
|
rs750534583
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1545+9T>C
|
rs769459614
|
0.00003
|
|
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val)
|
rs766098612
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1766+7G>A
|
rs563561289
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1948-7C>T
|
rs757782326
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2012T>G (p.Val671Gly)
|
rs373337896
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2116C>G (p.Gln706Glu)
|
rs147532349
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2196G>A (p.Pro732=)
|
rs200848801
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2238C>T (p.Asn746=)
|
rs35817402
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser)
|
rs758718558
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2716-15G>A
|
rs771386311
|
0.00003
|
|
NM_001018115.3(FANCD2):c.273+14C>T
|
rs749849880
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile)
|
rs1468736218
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)
|
rs200568638
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3047T>A (p.Val1016Asp)
|
rs767860064
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu)
|
rs759516610
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly)
|
rs781064333
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3466+9C>G
|
rs33998487
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn)
|
rs151316403
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met)
|
rs555539811
|
0.00003
|
|
NM_001018115.3(FANCD2):c.4214A>T (p.Gln1405Leu)
|
rs746871581
|
0.00003
|
|
NM_001018115.3(FANCD2):c.571-3C>T
|
rs191386799
|
0.00003
|
|
NM_001018115.3(FANCD2):c.65-18A>C
|
rs747412191
|
0.00003
|
|
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val)
|
rs770985541
|
0.00003
|
|
NM_001018115.3(FANCD2):c.865G>A (p.Val289Ile)
|
rs371273577
|
0.00003
|
|
NM_001022.4(RPS19):c.255C>T (p.Asn85=)
|
rs781860325
|
0.00003
|
|
NM_001022.4(RPS19):c.372A>T (p.Thr124=)
|
rs782722836
|
0.00003
|
|
NM_001022.4(RPS19):c.411+6G>C
|
rs138397598
|
0.00003
|
|
NM_001029.5(RPS26):c.181+10T>G
|
rs201191387
|
0.00003
|
|
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met)
|
rs1060501897
|
0.00003
|
|
NM_001113378.2(FANCI):c.1113C>T (p.Ser371=)
|
rs780568718
|
0.00003
|
|
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)
|
rs201002833
|
0.00003
|
|
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly)
|
rs200007225
|
0.00003
|
|
NM_001113378.2(FANCI):c.1699-11C>T
|
rs753750358
|
0.00003
|
|
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp)
|
rs779310267
|
0.00003
|
|
NM_001113378.2(FANCI):c.1891-2A>G
|
rs776329920
|
0.00003
|
|
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)
|
rs143105092
|
0.00003
|
|
NM_001113378.2(FANCI):c.1993-6C>T
|
rs1419780732
|
0.00003
|
|
NM_001113378.2(FANCI):c.2170-6T>C
|
rs764818761
|
0.00003
|
|
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly)
|
rs780147810
|
0.00003
|
|
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile)
|
rs781175970
|
0.00003
|
|
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)
|
rs768234660
|
0.00003
|
|
NM_001113378.2(FANCI):c.2504G>A (p.Ser835Asn)
|
rs778626493
|
0.00003
|
|
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
|
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly)
|
rs545673916
|
0.00003
|
|
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met)
|
rs771106622
|
0.00003
|
|
NM_001113378.2(FANCI):c.2803+15A>T
|
rs372343510
|
0.00003
|
|
NM_001113378.2(FANCI):c.284T>A (p.Leu95Gln)
|
rs201553891
|
0.00003
|
|
NM_001113378.2(FANCI):c.2907A>C (p.Leu969Phe)
|
rs568094959
|
0.00003
|
|
NM_001113378.2(FANCI):c.2936G>T (p.Ser979Ile)
|
rs769453869
|
0.00003
|
|
NM_001113378.2(FANCI):c.3053G>A (p.Ser1018Asn)
|
rs773696866
|
0.00003
|
|
NM_001113378.2(FANCI):c.3093G>C (p.Leu1031Phe)
|
rs546822799
|
0.00003
|
|
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys)
|
rs138702591
|
0.00003
|
|
NM_001113378.2(FANCI):c.3186+3A>G
|
rs371788349
|
0.00003
|
|
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr)
|
rs375746069
|
0.00003
|
|
NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly)
|
rs772968604
|
0.00003
|
|
NM_001113378.2(FANCI):c.3271C>G (p.Gln1091Glu)
|
rs578060150
|
0.00003
|
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
|
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe)
|
rs202066338
|
0.00003
|
|
NM_001113378.2(FANCI):c.3817-12A>G
|
rs545402956
|
0.00003
|
|
NM_001113378.2(FANCI):c.3835A>G (p.Met1279Val)
|
rs778056909
|
0.00003
|
|
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu)
|
rs374908061
|
0.00003
|
|
NM_001113378.2(FANCI):c.3886A>G (p.Met1296Val)
|
rs765052471
|
0.00003
|
|
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg)
|
rs369058619
|
0.00003
|
|
NM_001113378.2(FANCI):c.445+19T>C
|
rs1340366575
|
0.00003
|
|
NM_001113378.2(FANCI):c.446-9C>T
|
rs761356536
|
0.00003
|
|
NM_001113378.2(FANCI):c.488C>A (p.Thr163Asn)
|
rs574154974
|
0.00003
|
|
NM_001113378.2(FANCI):c.579T>C (p.Phe193=)
|
rs746361181
|
0.00003
|
|
NM_001113378.2(FANCI):c.595T>C (p.Leu199=)
|
rs373954813
|
0.00003
|
|
NM_001113378.2(FANCI):c.601A>G (p.Met201Val)
|
rs774564150
|
0.00003
|
|
NM_001113378.2(FANCI):c.705C>T (p.Ala235=)
|
rs542117175
|
0.00003
|
|
NM_001113378.2(FANCI):c.883-9C>T
|
rs563201817
|
0.00003
|
|
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser)
|
rs1340713003
|
0.00003
|
|
NM_002049.4(GATA1):c.220+17G>T
|
rs782352992
|
0.00003
|
|
NM_002049.4(GATA1):c.237A>G (p.Pro79=)
|
rs1557020162
|
0.00003
|
|
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu)
|
rs781920985
|
0.00003
|
|
NM_002049.4(GATA1):c.479A>G (p.Asn160Ser)
|
rs59609788
|
0.00003
|
|
NM_002049.4(GATA1):c.600G>A (p.Glu200=)
|
rs781977639
|
0.00003
|
|
NM_002049.4(GATA1):c.663C>G (p.Gly221=)
|
rs782282009
|
0.00003
|
|
NM_002049.4(GATA1):c.745-9G>A
|
rs371005242
|
0.00003
|
|
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln)
|
rs782236381
|
0.00003
|
|
NM_004629.2(FANCG):c.1062C>T (p.Cys354=)
|
rs745928033
|
0.00003
|
|
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)
|
rs375757497
|
0.00003
|
|
NM_004629.2(FANCG):c.1298G>A (p.Arg433Gln)
|
rs748738986
|
0.00003
|
|
NM_004629.2(FANCG):c.1441G>C (p.Glu481Gln)
|
rs772460728
|
0.00003
|
|
NM_004629.2(FANCG):c.1459A>C (p.Thr487Pro)
|
rs1414696119
|
0.00003
|
|
NM_004629.2(FANCG):c.1704T>C (p.Thr568=)
|
rs759675304
|
0.00003
|
|
NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr)
|
rs200466062
|
0.00003
|
|
NM_004629.2(FANCG):c.1758G>T (p.Leu586=)
|
rs549578835
|
0.00003
|
|
NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala)
|
rs541868979
|
0.00003
|
|
NM_004629.2(FANCG):c.1805C>A (p.Pro602His)
|
rs370950631
|
0.00003
|
|
NM_004629.2(FANCG):c.181C>T (p.Pro61Ser)
|
rs931163229
|
0.00003
|
|
NM_004629.2(FANCG):c.380G>A (p.Arg127His)
|
rs780985218
|
0.00003
|
|
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu)
|
rs1270561172
|
0.00003
|
|
NM_004629.2(FANCG):c.730G>A (p.Val244Met)
|
rs746248064
|
0.00003
|
|
NM_004629.2(FANCG):c.867C>T (p.Leu289=)
|
rs755031729
|
0.00003
|
|
NM_004629.2(FANCG):c.927C>T (p.Ala309=)
|
rs370002843
|
0.00003
|
|
NM_004629.2(FANCG):c.934G>A (p.Val312Ile)
|
rs530535955
|
0.00003
|
|
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)
|
rs144602005
|
0.00003
|
|
NM_005236.3(ERCC4):c.1431G>T (p.Arg477=)
|
rs760367072
|
0.00003
|
|
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu)
|
rs149056863
|
0.00003
|
|
NM_005236.3(ERCC4):c.1758C>G (p.Thr586=)
|
rs367595904
|
0.00003
|
|
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser)
|
rs369471816
|
0.00003
|
|
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=)
|
rs565249189
|
0.00003
|
|
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)
|
rs762543560
|
0.00003
|
|
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln)
|
rs144058769
|
0.00003
|
|
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn)
|
rs1567253853
|
0.00003
|
|
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val)
|
rs141790888
|
0.00003
|
|
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His)
|
rs1211543560
|
0.00003
|
|
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg)
|
rs775257742
|
0.00003
|
|
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile)
|
rs763811136
|
0.00003
|
|
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val)
|
rs941012957
|
0.00003
|
|
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr)
|
rs764093404
|
0.00003
|
|
NM_005236.3(ERCC4):c.69G>A (p.Val23=)
|
rs201606798
|
0.00003
|
|
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)
|
rs587778282
|
0.00003
|
|
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro)
|
rs1457864707
|
0.00003
|
|
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)
|
rs200596978
|
0.00003
|
|
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala)
|
rs777183693
|
0.00003
|
|
NM_018062.4(FANCL):c.1121A>G (p.Lys374Arg)
|
rs745544496
|
0.00003
|
|
NM_018062.4(FANCL):c.317C>T (p.Pro106Leu)
|
rs771772034
|
0.00003
|
|
NM_018062.4(FANCL):c.374+13T>C
|
rs776463455
|
0.00003
|
|
NM_018062.4(FANCL):c.375-13C>T
|
rs761490451
|
0.00003
|
|
NM_018062.4(FANCL):c.375-6C>T
|
rs773848254
|
0.00003
|
|
NM_018062.4(FANCL):c.471+12G>A
|
rs369756342
|
0.00003
|
|
NM_018062.4(FANCL):c.822-13C>T
|
rs756047554
|
0.00003
|
|
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys)
|
rs376528147
|
0.00003
|
|
NM_018062.4(FANCL):c.948C>T (p.Asp316=)
|
rs1409256364
|
0.00003
|
|
NM_020937.4(FANCM):c.1029A>G (p.Lys343=)
|
rs777761113
|
0.00003
|
|
NM_020937.4(FANCM):c.11G>A (p.Arg4Gln)
|
rs140744346
|
0.00003
|
|
NM_020937.4(FANCM):c.1397-4A>G
|
rs765857460
|
0.00003
|
|
NM_020937.4(FANCM):c.1602C>T (p.Asp534=)
|
rs201951080
|
0.00003
|
|
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
|
rs148810507
|
0.00003
|
|
NM_020937.4(FANCM):c.1706G>A (p.Arg569His)
|
rs754308821
|
0.00003
|
|
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu)
|
rs775663650
|
0.00003
|
|
NM_020937.4(FANCM):c.1788+19A>G
|
rs373941822
|
0.00003
|
|
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro)
|
rs777379515
|
0.00003
|
|
NM_020937.4(FANCM):c.2240A>G (p.His747Arg)
|
rs181827583
|
0.00003
|
|
NM_020937.4(FANCM):c.2286G>A (p.Met762Ile)
|
rs768567945
|
0.00003
|
|
NM_020937.4(FANCM):c.2358A>C (p.Gln786His)
|
rs367741599
|
0.00003
|
|
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn)
|
rs752560995
|
0.00003
|
|
NM_020937.4(FANCM):c.2762G>A (p.Cys921Tyr)
|
rs752914487
|
0.00003
|
|
NM_020937.4(FANCM):c.3112C>T (p.Leu1038=)
|
rs566514015
|
0.00003
|
|
NM_020937.4(FANCM):c.3232C>T (p.Pro1078Ser)
|
rs189723011
|
0.00003
|
|
NM_020937.4(FANCM):c.3407T>C (p.Leu1136Ser)
|
rs770989272
|
0.00003
|
|
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe)
|
rs1180319315
|
0.00003
|
|
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly)
|
rs946759727
|
0.00003
|
|
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)
|
rs751954386
|
0.00003
|
|
NM_020937.4(FANCM):c.4318-3T>G
|
rs367696095
|
0.00003
|
|
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr)
|
rs553521590
|
0.00003
|
|
NM_020937.4(FANCM):c.4456G>A (p.Val1486Ile)
|
rs192438733
|
0.00003
|
|
NM_020937.4(FANCM):c.4515+10T>C
|
rs747493198
|
0.00003
|
|
NM_020937.4(FANCM):c.4578T>G (p.Val1526=)
|
rs368982372
|
0.00003
|
|
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp)
|
rs375640203
|
0.00003
|
|
NM_020937.4(FANCM):c.461G>C (p.Cys154Ser)
|
rs766755069
|
0.00003
|
|
NM_020937.4(FANCM):c.4672+11T>C
|
rs778527745
|
0.00003
|
|
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp)
|
rs919256712
|
0.00003
|
|
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=)
|
rs150389713
|
0.00003
|
|
NM_020937.4(FANCM):c.5409T>C (p.Ala1803=)
|
rs141214060
|
0.00003
|
|
NM_020937.4(FANCM):c.544T>A (p.Cys182Ser)
|
rs992613830
|
0.00003
|
|
NM_020937.4(FANCM):c.5603A>G (p.Gln1868Arg)
|
rs764031097
|
0.00003
|
|
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg)
|
rs148945714
|
0.00003
|
|
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu)
|
rs201383385
|
0.00003
|
|
NM_020937.4(FANCM):c.5745A>G (p.Thr1915=)
|
rs535316621
|
0.00003
|
|
NM_020937.4(FANCM):c.5772C>A (p.Thr1924=)
|
rs377475907
|
0.00003
|
|
NM_020937.4(FANCM):c.5823C>T (p.Thr1941=)
|
rs766031579
|
0.00003
|
|
NM_020937.4(FANCM):c.5898T>C (p.Asn1966=)
|
rs780323169
|
0.00003
|
|
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=)
|
rs949619907
|
0.00003
|
|
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=)
|
rs756119280
|
0.00003
|
|
NM_020937.4(FANCM):c.6127A>C (p.Arg2043=)
|
rs746223444
|
0.00003
|
|
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn)
|
rs192079020
|
0.00003
|
|
NM_020937.4(FANCM):c.655G>A (p.Ala219Thr)
|
rs1300272683
|
0.00003
|
|
NM_020937.4(FANCM):c.68C>A (p.Pro23Gln)
|
rs377031191
|
0.00003
|
|
NM_020937.4(FANCM):c.808C>T (p.Arg270Cys)
|
rs751006401
|
0.00003
|
|
NM_020937.4(FANCM):c.950A>G (p.Gln317Arg)
|
rs375644492
|
0.00003
|
|
NM_021922.3(FANCE):c.1086G>C (p.Val362=)
|
rs146571065
|
0.00003
|
|
NM_021922.3(FANCE):c.1092C>T (p.Thr364=)
|
rs776318917
|
0.00003
|
|
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr)
|
rs759782690
|
0.00003
|
|
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr)
|
rs1365782479
|
0.00003
|
|
NM_021922.3(FANCE):c.1200C>T (p.Ser400=)
|
rs752689765
|
0.00003
|
|
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val)
|
rs776298967
|
0.00003
|
|
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile)
|
rs201970876
|
0.00003
|
|
NM_021922.3(FANCE):c.1509+19T>C
|
rs760565814
|
0.00003
|
|
NM_021922.3(FANCE):c.199C>A (p.Leu67Met)
|
rs1161408735
|
0.00003
|
|
NM_021922.3(FANCE):c.248+5G>A
|
rs1027705914
|
0.00003
|
|
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro)
|
rs781123077
|
0.00003
|
|
NM_021922.3(FANCE):c.457G>A (p.Ala153Thr)
|
rs151276683
|
0.00003
|
|
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg)
|
rs747727711
|
0.00003
|
|
NM_022725.4(FANCF):c.1002G>C (p.Ala334=)
|
rs761698961
|
0.00003
|
|
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn)
|
rs149687560
|
0.00003
|
|
NM_022725.4(FANCF):c.101C>T (p.Ala34Val)
|
rs780228540
|
0.00003
|
|
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro)
|
rs371420932
|
0.00003
|
|
NM_022725.4(FANCF):c.234G>A (p.Pro78=)
|
rs144503236
|
0.00003
|
|
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro)
|
rs1423734778
|
0.00003
|
|
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly)
|
rs759470099
|
0.00003
|
|
NM_022725.4(FANCF):c.37G>A (p.Glu13Lys)
|
rs766362210
|
0.00003
|
|
NM_022725.4(FANCF):c.67G>T (p.Val23Phe)
|
rs777143902
|
0.00003
|
|
NM_022725.4(FANCF):c.785T>C (p.Leu262Ser)
|
rs368067979
|
0.00003
|
|
NM_032043.3(BRIP1):c.1153C>A (p.Leu385Met)
|
rs748001678
|
0.00003
|
|
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val)
|
rs863224798
|
0.00003
|
|
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)
|
rs148429663
|
0.00003
|
|
NM_032043.3(BRIP1):c.1314A>G (p.Leu438=)
|
rs1291435424
|
0.00003
|
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
|
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg)
|
rs746329838
|
0.00003
|
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
|
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)
|
rs768224857
|
0.00003
|
|
NM_032043.3(BRIP1):c.1794+19T>C
|
rs752328575
|
0.00003
|
|
NM_032043.3(BRIP1):c.1798T>C (p.Phe600Leu)
|
rs745367580
|
0.00003
|
|
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)
|
rs786203170
|
0.00003
|
|
NM_032043.3(BRIP1):c.2047G>C (p.Val683Leu)
|
rs773347072
|
0.00003
|
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+8G>C
|
rs772953115
|
0.00003
|
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
|
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys)
|
rs781556845
|
0.00003
|
|
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)
|
rs149529390
|
0.00003
|
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
|
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=)
|
rs555200296
|
0.00003
|
|
NM_032043.3(BRIP1):c.2806G>A (p.Glu936Lys)
|
rs754280048
|
0.00003
|
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
|
NM_032043.3(BRIP1):c.2858C>T (p.Thr953Ile)
|
rs201672040
|
0.00003
|
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
|
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys)
|
rs748793974
|
0.00003
|
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
|
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)
|
rs730881646
|
0.00003
|
|
NM_032043.3(BRIP1):c.379+4_379+5del
|
rs773332695
|
0.00003
|
|
NM_032043.3(BRIP1):c.628-16C>A
|
rs770648312
|
0.00003
|
|
NM_032043.3(BRIP1):c.672A>G (p.Gly224=)
|
rs752356873
|
0.00003
|
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
|
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln)
|
rs876660125
|
0.00003
|
|
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly)
|
rs878855158
|
0.00003
|
|
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn)
|
rs149470704
|
0.00003
|
|
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln)
|
rs372956623
|
0.00003
|
|
NM_032444.4(SLX4):c.1159T>G (p.Phe387Val)
|
rs373810042
|
0.00003
|
|
NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile)
|
rs775559576
|
0.00003
|
|
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln)
|
rs200030312
|
0.00003
|
|
NM_032444.4(SLX4):c.1222C>T (p.Arg408Trp)
|
rs758029323
|
0.00003
|
|
NM_032444.4(SLX4):c.1231C>T (p.Arg411Trp)
|
rs761227900
|
0.00003
|
|
NM_032444.4(SLX4):c.1405C>G (p.Pro469Ala)
|
rs763833617
|
0.00003
|
|
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser)
|
rs776189589
|
0.00003
|
|
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys)
|
rs762550449
|
0.00003
|
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
|
NM_032444.4(SLX4):c.1573C>T (p.Arg525Cys)
|
rs143831403
|
0.00003
|
|
NM_032444.4(SLX4):c.1749G>T (p.Arg583Ser)
|
rs374644679
|
0.00003
|
|
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr)
|
rs764210911
|
0.00003
|
|
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser)
|
rs144454312
|
0.00003
|
|
NM_032444.4(SLX4):c.1881G>A (p.Pro627=)
|
rs766325727
|
0.00003
|
|
NM_032444.4(SLX4):c.2022C>T (p.Leu674=)
|
rs139900828
|
0.00003
|
|
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr)
|
rs138124860
|
0.00003
|
|
NM_032444.4(SLX4):c.2097C>T (p.Ser699=)
|
rs747941542
|
0.00003
|
|
NM_032444.4(SLX4):c.2124C>T (p.Phe708=)
|
rs564042887
|
0.00003
|
|
NM_032444.4(SLX4):c.2125G>A (p.Val709Met)
|
rs151026877
|
0.00003
|
|
NM_032444.4(SLX4):c.2332G>C (p.Gly778Arg)
|
rs142722925
|
0.00003
|
|
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln)
|
rs143730668
|
0.00003
|
|
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp)
|
rs202237877
|
0.00003
|
|
NM_032444.4(SLX4):c.2787G>A (p.Pro929=)
|
rs766824198
|
0.00003
|
|
NM_032444.4(SLX4):c.2940C>T (p.Ala980=)
|
rs1415684146
|
0.00003
|
|
NM_032444.4(SLX4):c.2990C>T (p.Pro997Leu)
|
rs774243118
|
0.00003
|
|
NM_032444.4(SLX4):c.2998A>G (p.Ile1000Val)
|
rs772540192
|
0.00003
|
|
NM_032444.4(SLX4):c.3042G>A (p.Arg1014=)
|
rs752948857
|
0.00003
|
|
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro)
|
rs200842643
|
0.00003
|
|
NM_032444.4(SLX4):c.3089C>T (p.Pro1030Leu)
|
rs774562724
|
0.00003
|
|
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu)
|
rs200924744
|
0.00003
|
|
NM_032444.4(SLX4):c.3106C>T (p.Leu1036=)
|
rs781572774
|
0.00003
|
|
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)
|
rs201359490
|
0.00003
|
|
NM_032444.4(SLX4):c.3374A>G (p.Asp1125Gly)
|
rs186784513
|
0.00003
|
|
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser)
|
rs775853263
|
0.00003
|
|
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys)
|
rs201422743
|
0.00003
|
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
|
NM_032444.4(SLX4):c.4131G>A (p.Ser1377=)
|
rs757513165
|
0.00003
|
|
NM_032444.4(SLX4):c.4185C>T (p.Val1395=)
|
rs993089915
|
0.00003
|
|
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg)
|
rs376437029
|
0.00003
|
|
NM_032444.4(SLX4):c.4272C>T (p.Asp1424=)
|
rs771297945
|
0.00003
|
|
NM_032444.4(SLX4):c.4313T>C (p.Ile1438Thr)
|
rs779769996
|
0.00003
|
|
NM_032444.4(SLX4):c.433G>A (p.Ala145Thr)
|
rs780711582
|
0.00003
|
|
NM_032444.4(SLX4):c.4366C>T (p.Arg1456Cys)
|
rs760286353
|
0.00003
|
|
NM_032444.4(SLX4):c.4367G>A (p.Arg1456His)
|
rs774858804
|
0.00003
|
|
NM_032444.4(SLX4):c.4387G>A (p.Asp1463Asn)
|
rs779970904
|
0.00003
|
|
NM_032444.4(SLX4):c.4402C>T (p.Arg1468Cys)
|
rs760497928
|
0.00003
|
|
NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe)
|
rs759045352
|
0.00003
|
|
NM_032444.4(SLX4):c.4478C>T (p.Ser1493Leu)
|
rs565491187
|
0.00003
|
|
NM_032444.4(SLX4):c.4485G>C (p.Ala1495=)
|
rs140872903
|
0.00003
|
|
NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu)
|
rs370637700
|
0.00003
|
|
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=)
|
rs1320958776
|
0.00003
|
|
NM_032444.4(SLX4):c.4686G>T (p.Pro1562=)
|
rs752013105
|
0.00003
|
|
NM_032444.4(SLX4):c.4751G>A (p.Arg1584His)
|
rs199969428
|
0.00003
|
|
NM_032444.4(SLX4):c.4766G>A (p.Arg1589His)
|
rs746314060
|
0.00003
|
|
NM_032444.4(SLX4):c.485C>T (p.Thr162Met)
|
rs140876043
|
0.00003
|
|
NM_032444.4(SLX4):c.4873C>T (p.His1625Tyr)
|
rs145527531
|
0.00003
|
|
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)
|
rs886051977
|
0.00003
|
|
NM_032444.4(SLX4):c.5000A>G (p.His1667Arg)
|
rs139304111
|
0.00003
|
|
NM_032444.4(SLX4):c.5228C>T (p.Ser1743Leu)
|
rs144057906
|
0.00003
|
|
NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser)
|
rs780678810
|
0.00003
|
|
NM_032444.4(SLX4):c.5265G>A (p.Ala1755=)
|
rs527440287
|
0.00003
|
|
NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp)
|
rs771230395
|
0.00003
|
|
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn)
|
rs201769293
|
0.00003
|
|
NM_032444.4(SLX4):c.708G>A (p.Ala236=)
|
rs765742613
|
0.00003
|
|
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)
|
rs199912910
|
0.00003
|
|
NM_032444.4(SLX4):c.752C>T (p.Ala251Val)
|
rs201117707
|
0.00003
|
|
NM_032444.4(SLX4):c.806C>T (p.Ala269Val)
|
rs750475726
|
0.00003
|
|
NM_032444.4(SLX4):c.922G>A (p.Val308Met)
|
rs775151113
|
0.00003
|
|
NM_032444.4(SLX4):c.929G>A (p.Arg310Gln)
|
rs759447034
|
0.00003
|
|
NM_032444.4(SLX4):c.97G>T (p.Asp33Tyr)
|
rs780117582
|
0.00003
|
|
NM_033022.4(RPS24):c.122G>A (p.Arg41Gln)
|
rs751857347
|
0.00003
|
|
NM_033022.4(RPS24):c.12C>T (p.Thr4=)
|
rs769340744
|
0.00003
|
|
NM_033022.4(RPS24):c.21C>T (p.Ile7=)
|
rs762233086
|
0.00003
|
|
NM_058216.3(RAD51C):c.1006A>C (p.Thr336Pro)
|
rs772344354
|
0.00003
|
|
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly)
|
rs587782565
|
0.00003
|
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
|
NM_058216.3(RAD51C):c.1118A>C (p.Glu373Ala)
|
rs758223998
|
0.00003
|
|
NM_058216.3(RAD51C):c.121G>C (p.Val41Leu)
|
rs879254131
|
0.00003
|
|
NM_058216.3(RAD51C):c.189T>G (p.Ile63Met)
|
rs730881923
|
0.00003
|
|
NM_058216.3(RAD51C):c.287C>G (p.Thr96Ser)
|
rs750381200
|
0.00003
|
|
NM_058216.3(RAD51C):c.451G>C (p.Val151Leu)
|
rs753912045
|
0.00003
|
|
NM_058216.3(RAD51C):c.705+14T>C
|
rs771168730
|
0.00003
|
|
NM_058216.3(RAD51C):c.706-13C>G
|
rs747406535
|
0.00003
|
|
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)
|
rs746026526
|
0.00003
|
|
NM_058216.3(RAD51C):c.783A>G (p.Leu261=)
|
rs138643096
|
0.00003
|
|
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)
|
rs376403182
|
0.00003
|
|
NM_058216.3(RAD51C):c.905-19T>C
|
rs368114768
|
0.00003
|
|
NM_058216.3(RAD51C):c.970G>A (p.Ala324Thr)
|
rs777575172
|
0.00003
|
|
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)
|
rs752532498
|
0.00002
|
|
NM_000135.4(FANCA):c.1007-3C>T
|
rs557382436
|
0.00002
|
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
|
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
|
rs531100141
|
0.00002
|
|
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn)
|
rs764286584
|
0.00002
|
|
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
|
rs982286482
|
0.00002
|
|
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val)
|
rs748005916
|
0.00002
|
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
|
NM_000135.4(FANCA):c.1231G>A (p.Val411Met)
|
rs924067529
|
0.00002
|
|
NM_000135.4(FANCA):c.1236G>A (p.Ala412=)
|
rs371993688
|
0.00002
|
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
|
NM_000135.4(FANCA):c.1243A>G (p.Met415Val)
|
rs1438001164
|
0.00002
|
|
NM_000135.4(FANCA):c.1254A>G (p.Ala418=)
|
rs757442919
|
0.00002
|
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
|
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
|
rs144234991
|
0.00002
|
|
NM_000135.4(FANCA):c.1359+13C>T
|
rs754740338
|
0.00002
|
|
NM_000135.4(FANCA):c.1471-17C>T
|
rs750970650
|
0.00002
|
|
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val)
|
rs762828757
|
0.00002
|
|
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)
|
rs773159223
|
0.00002
|
|
NM_000135.4(FANCA):c.1557C>T (p.Ala519=)
|
rs765079866
|
0.00002
|
|
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)
|
rs754123446
|
0.00002
|
|
NM_000135.4(FANCA):c.1566+6C>G
|
rs886939126
|
0.00002
|
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
|
NM_000135.4(FANCA):c.1627-4C>A
|
rs201163548
|
0.00002
|
|
NM_000135.4(FANCA):c.1627-7G>A
|
rs1208978768
|
0.00002
|
|
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly)
|
rs753229112
|
0.00002
|
|
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile)
|
rs778754162
|
0.00002
|
|
NM_000135.4(FANCA):c.1716-19C>G
|
rs372263763
|
0.00002
|
|
NM_000135.4(FANCA):c.1717A>G (p.Ile573Val)
|
rs775255736
|
0.00002
|
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
|
NM_000135.4(FANCA):c.1781C>A (p.Pro594His)
|
rs780295697
|
0.00002
|
|
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu)
|
rs938278864
|
0.00002
|
|
NM_000135.4(FANCA):c.189+4A>G
|
rs374822922
|
0.00002
|
|
NM_000135.4(FANCA):c.1896A>G (p.Pro632=)
|
rs776251919
|
0.00002
|
|
NM_000135.4(FANCA):c.190-20T>C
|
rs755351504
|
0.00002
|
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
|
NM_000135.4(FANCA):c.1900+16G>A
|
rs757981356
|
0.00002
|
|
NM_000135.4(FANCA):c.1959C>T (p.Leu653=)
|
rs368643963
|
0.00002
|
|
NM_000135.4(FANCA):c.1969C>T (p.Leu657=)
|
rs889618840
|
0.00002
|
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
|
NM_000135.4(FANCA):c.2015-12C>T
|
rs769141220
|
0.00002
|
|
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp)
|
rs201672093
|
0.00002
|
|
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)
|
rs371458363
|
0.00002
|
|
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)
|
rs775960094
|
0.00002
|
|
NM_000135.4(FANCA):c.2151+20A>G
|
rs374555419
|
0.00002
|
|
NM_000135.4(FANCA):c.2209G>A (p.Ala737Thr)
|
rs539161141
|
0.00002
|
|
NM_000135.4(FANCA):c.2222+8C>T
|
rs745775730
|
0.00002
|
|
NM_000135.4(FANCA):c.228A>G (p.Lys76=)
|
rs372180286
|
0.00002
|
|
NM_000135.4(FANCA):c.2317-10C>G
|
rs757166295
|
0.00002
|
|
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)
|
rs767455904
|
0.00002
|
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
|
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser)
|
rs1359572434
|
0.00002
|
|
NM_000135.4(FANCA):c.2504A>C (p.Lys835Thr)
|
rs749268120
|
0.00002
|
|
NM_000135.4(FANCA):c.2505-5T>G
|
rs768436599
|
0.00002
|
|
NM_000135.4(FANCA):c.2505-7T>C
|
rs374909752
|
0.00002
|
|
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro)
|
rs1017352035
|
0.00002
|
|
NM_000135.4(FANCA):c.2586A>C (p.Pro862=)
|
rs765499572
|
0.00002
|
|
NM_000135.4(FANCA):c.2610C>T (p.Phe870=)
|
rs201160735
|
0.00002
|
|
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys)
|
rs756314107
|
0.00002
|
|
NM_000135.4(FANCA):c.2622A>G (p.Arg874=)
|
rs1441752228
|
0.00002
|
|
NM_000135.4(FANCA):c.2667C>T (p.Ala889=)
|
rs771425634
|
0.00002
|
|
NM_000135.4(FANCA):c.2689C>G (p.His897Asp)
|
rs766402927
|
0.00002
|
|
NM_000135.4(FANCA):c.2778+18C>G
|
rs368370420
|
0.00002
|
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
|
NM_000135.4(FANCA):c.2778+7G>A
|
rs374581674
|
0.00002
|
|
NM_000135.4(FANCA):c.2833G>A (p.Ala945Thr)
|
rs757996952
|
0.00002
|
|
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
|
rs965036018
|
0.00002
|
|
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg)
|
rs369565161
|
0.00002
|
|
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile)
|
rs1178389035
|
0.00002
|
|
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)
|
rs1060501883
|
0.00002
|
|
NM_000135.4(FANCA):c.2979A>G (p.Gln993=)
|
rs761577170
|
0.00002
|
|
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser)
|
rs773260958
|
0.00002
|
|
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg)
|
rs766358053
|
0.00002
|
|
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)
|
rs369878171
|
0.00002
|
|
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)
|
rs1419279017
|
0.00002
|
|
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu)
|
rs376089640
|
0.00002
|
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
|
NM_000135.4(FANCA):c.3348+19C>T
|
rs200217850
|
0.00002
|
|
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
|
rs977982480
|
0.00002
|
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
0.00002
|
|
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly)
|
rs760330357
|
0.00002
|
|
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln)
|
rs770622823
|
0.00002
|
|
NM_000135.4(FANCA):c.3626+10G>C
|
rs753929458
|
0.00002
|
|
NM_000135.4(FANCA):c.3627-17C>T
|
rs754751562
|
0.00002
|
|
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val)
|
rs576401459
|
0.00002
|
|
NM_000135.4(FANCA):c.3714G>A (p.Arg1238=)
|
rs368437504
|
0.00002
|
|
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met)
|
rs972127356
|
0.00002
|
|
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala)
|
rs373998809
|
0.00002
|
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
|
NM_000135.4(FANCA):c.3876C>T (p.Leu1292=)
|
rs878934420
|
0.00002
|
|
NM_000135.4(FANCA):c.393C>T (p.Thr131=)
|
rs1217316233
|
0.00002
|
|
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu)
|
rs143570168
|
0.00002
|
|
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
|
rs201886956
|
0.00002
|
|
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val)
|
rs766710139
|
0.00002
|
|
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)
|
rs753944130
|
0.00002
|
|
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe)
|
rs752245802
|
0.00002
|
|
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr)
|
rs767206558
|
0.00002
|
|
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn)
|
rs772122405
|
0.00002
|
|
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)
|
rs145148206
|
0.00002
|
|
NM_000135.4(FANCA):c.427-20A>G
|
rs755584134
|
0.00002
|
|
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)
|
rs769243354
|
0.00002
|
|
NM_000135.4(FANCA):c.4299C>T (p.Ser1433=)
|
rs568293451
|
0.00002
|
|
NM_000135.4(FANCA):c.492T>G (p.Leu164=)
|
rs951810885
|
0.00002
|
|
NM_000135.4(FANCA):c.559G>A (p.Val187Ile)
|
rs761538996
|
0.00002
|
|
NM_000135.4(FANCA):c.57G>C (p.Arg19=)
|
rs930955916
|
0.00002
|
|
NM_000135.4(FANCA):c.596+14G>A
|
rs757255187
|
0.00002
|
|
NM_000135.4(FANCA):c.596+4G>A
|
rs780355864
|
0.00002
|
|
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)
|
rs779131886
|
0.00002
|
|
NM_000135.4(FANCA):c.620G>C (p.Gly207Ala)
|
rs1432895332
|
0.00002
|
|
NM_000135.4(FANCA):c.624G>A (p.Ser208=)
|
rs922099383
|
0.00002
|
|
NM_000135.4(FANCA):c.667G>A (p.Ala223Thr)
|
rs771195871
|
0.00002
|
|
NM_000135.4(FANCA):c.6C>G (p.Ser2=)
|
rs982258436
|
0.00002
|
|
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
|
rs145869646
|
0.00002
|
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
|
NM_000135.4(FANCA):c.80-5C>T
|
rs777687671
|
0.00002
|
|
NM_000135.4(FANCA):c.831A>G (p.Ala277=)
|
rs773050347
|
0.00002
|
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
|
NM_000135.4(FANCA):c.888G>A (p.Arg296=)
|
rs942855447
|
0.00002
|
|
NM_000135.4(FANCA):c.88G>A (p.Val30Ile)
|
rs1160471115
|
0.00002
|
|
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg)
|
rs775212719
|
0.00002
|
|
NM_000135.4(FANCA):c.946C>T (p.Leu316=)
|
rs775506986
|
0.00002
|
|
NM_000136.3(FANCC):c.-41A>G
|
rs768624552
|
0.00002
|
|
NM_000136.3(FANCC):c.1002G>A (p.Arg334=)
|
rs772717264
|
0.00002
|
|
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala)
|
rs863224606
|
0.00002
|
|
NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu)
|
rs778968824
|
0.00002
|
|
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg)
|
rs1064793837
|
0.00002
|
|
NM_000136.3(FANCC):c.1161C>T (p.Cys387=)
|
rs548998258
|
0.00002
|
|
NM_000136.3(FANCC):c.1248C>T (p.Ala416=)
|
rs747051975
|
0.00002
|
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
|
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)
|
rs201063698
|
0.00002
|
|
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu)
|
rs587779901
|
0.00002
|
|
NM_000136.3(FANCC):c.165+17A>G
|
rs1046183823
|
0.00002
|
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
|
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)
|
rs758866109
|
0.00002
|
|
NM_000136.3(FANCC):c.233C>A (p.Pro78His)
|
rs138722298
|
0.00002
|
|
NM_000136.3(FANCC):c.349G>A (p.Val117Ile)
|
rs781167993
|
0.00002
|
|
NM_000136.3(FANCC):c.351A>G (p.Val117=)
|
rs754914546
|
0.00002
|
|
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly)
|
rs555753798
|
0.00002
|
|
NM_000136.3(FANCC):c.457-7T>C
|
rs749994612
|
0.00002
|
|
NM_000136.3(FANCC):c.473C>T (p.Ala158Val)
|
rs776429990
|
0.00002
|
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
|
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)
|
rs377620735
|
0.00002
|
|
NM_000136.3(FANCC):c.598G>C (p.Val200Leu)
|
rs772996041
|
0.00002
|
|
NM_000136.3(FANCC):c.620A>T (p.His207Leu)
|
rs202038890
|
0.00002
|
|
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln)
|
rs752339229
|
0.00002
|
|
NM_000136.3(FANCC):c.654G>A (p.Glu218=)
|
rs754705988
|
0.00002
|
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
|
NM_000136.3(FANCC):c.675G>A (p.Glu225=)
|
rs760906091
|
0.00002
|
|
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro)
|
rs1060502515
|
0.00002
|
|
NM_000136.3(FANCC):c.783A>T (p.Leu261=)
|
rs1060504646
|
0.00002
|
|
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly)
|
rs111657009
|
0.00002
|
|
NM_000136.3(FANCC):c.826A>G (p.Ile276Val)
|
rs377085045
|
0.00002
|
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
|
NM_000136.3(FANCC):c.897-19C>T
|
rs368830981
|
0.00002
|
|
NM_000136.3(FANCC):c.915C>T (p.Thr305=)
|
rs138132690
|
0.00002
|
|
NM_000136.3(FANCC):c.975T>G (p.Ala325=)
|
rs747463354
|
0.00002
|
|
NM_000136.3(FANCC):c.993G>A (p.Lys331=)
|
rs748582850
|
0.00002
|
|
NM_000969.5(RPL5):c.103C>T (p.Arg35Cys)
|
rs772575122
|
0.00002
|
|
NM_000969.5(RPL5):c.156A>C (p.Ile52=)
|
rs753968704
|
0.00002
|
|
NM_000969.5(RPL5):c.324+12A>T
|
rs781444582
|
0.00002
|
|
NM_000969.5(RPL5):c.519C>T (p.Ile173=)
|
rs755317830
|
0.00002
|
|
NM_000969.5(RPL5):c.690C>T (p.Ser230=)
|
rs766117227
|
0.00002
|
|
NM_000969.5(RPL5):c.794+8G>A
|
rs907325546
|
0.00002
|
|
NM_000975.5(RPL11):c.258T>G (p.Gly86=)
|
rs760885169
|
0.00002
|
|
NM_000975.5(RPL11):c.33C>T (p.Pro11=)
|
rs764637448
|
0.00002
|
|
NM_000975.5(RPL11):c.452T>C (p.Ile151Thr)
|
rs754966145
|
0.00002
|
|
NM_000975.5(RPL11):c.507+8T>C
|
rs757566843
|
0.00002
|
|
NM_000987.5(RPL26):c.153G>A (p.Lys51=)
|
rs759269888
|
0.00002
|
|
NM_000996.4(RPL35A):c.164+18G>A
|
rs749642279
|
0.00002
|
|
NM_001011.4(RPS7):c.264T>C (p.Ser88=)
|
rs1244488439
|
0.00002
|
|
NM_001011.4(RPS7):c.35A>G (p.Asn12Ser)
|
rs779623517
|
0.00002
|
|
NM_001011.4(RPS7):c.99C>T (p.Asn33=)
|
rs61732234
|
0.00002
|
|
NM_001014.5(RPS10):c.135C>T (p.Val45=)
|
rs148901210
|
0.00002
|
|
NM_001014.5(RPS10):c.171C>T (p.Tyr57=)
|
rs751801707
|
0.00002
|
|
NM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro)
|
rs1425904046
|
0.00002
|
|
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)
|
rs138192474
|
0.00002
|
|
NM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys)
|
rs145542355
|
0.00002
|
|
NM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn)
|
rs1296333300
|
0.00002
|
|
NM_001018113.3(FANCB):c.1327-11_1327-10insC
|
rs1312589379
|
0.00002
|
|
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val)
|
rs368679125
|
0.00002
|
|
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr)
|
rs764817410
|
0.00002
|
|
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr)
|
rs763091316
|
0.00002
|
|
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
|
rs943801800
|
0.00002
|
|
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)
|
rs761346761
|
0.00002
|
|
NM_001018113.3(FANCB):c.2301A>C (p.Leu767=)
|
rs962222970
|
0.00002
|
|
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)
|
rs761492600
|
0.00002
|
|
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=)
|
rs1034395123
|
0.00002
|
|
NM_001018113.3(FANCB):c.2517T>C (p.Thr839=)
|
rs760440816
|
0.00002
|
|
NM_001018113.3(FANCB):c.2553T>C (p.Phe851=)
|
rs759020755
|
0.00002
|
|
NM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr)
|
rs770685871
|
0.00002
|
|
NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn)
|
rs749099779
|
0.00002
|
|
NM_001018113.3(FANCB):c.552G>A (p.Leu184=)
|
rs771998496
|
0.00002
|
|
NM_001018113.3(FANCB):c.653A>C (p.Glu218Ala)
|
rs781051710
|
0.00002
|
|
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His)
|
rs1398803909
|
0.00002
|
|
NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser)
|
rs200970121
|
0.00002
|
|
NM_001018113.3(FANCB):c.741C>A (p.Ile247=)
|
rs760773732
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1014C>T (p.Ser338=)
|
rs527769128
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val)
|
rs993692917
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1317T>A (p.Ala439=)
|
rs368441247
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val)
|
rs768105189
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1766+3A>G
|
rs758140679
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1788C>A (p.Thr596=)
|
rs779249492
|
0.00002
|
|
NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile)
|
rs1221930544
|
0.00002
|
|
NM_001018115.3(FANCD2):c.2586C>T (p.Ile862=)
|
rs367838566
|
0.00002
|
|
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=)
|
rs766286504
|
0.00002
|
|
NM_001018115.3(FANCD2):c.2986A>G (p.Ser996Gly)
|
rs745373058
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3106T>A (p.Cys1036Ser)
|
rs767901156
|
0.00002
|
|
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val)
|
rs774299094
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser)
|
rs142238966
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu)
|
rs751027444
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly)
|
rs1371349116
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3389G>A (p.Cys1130Tyr)
|
rs750409411
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly)
|
rs369405673
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val)
|
rs752815037
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3493C>T (p.Arg1165Trp)
|
rs759348779
|
0.00002
|
|
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys)
|
rs200335298
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3683+19C>T
|
rs377723227
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3684-9G>A
|
rs748312392
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3692T>C (p.Phe1231Ser)
|
rs762915519
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met)
|
rs764775864
|
0.00002
|
|
NM_001018115.3(FANCD2):c.377+17T>C
|
rs45593431
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3778-15A>G
|
rs755821273
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3808A>G (p.Met1270Val)
|
rs587778333
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3871C>T (p.Leu1291=)
|
rs771698231
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3895C>T (p.Arg1299Cys)
|
rs555348798
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg)
|
rs746501818
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3964-10T>C
|
rs2302844
|
0.00002
|
|
NM_001018115.3(FANCD2):c.4053G>A (p.Thr1351=)
|
rs760800033
|
0.00002
|
|
NM_001018115.3(FANCD2):c.4175G>A (p.Arg1392Gln)
|
rs1334082637
|
0.00002
|
|
NM_001018115.3(FANCD2):c.4209T>C (p.Asn1403=)
|
rs758210208
|
0.00002
|
|
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=)
|
rs373600764
|
0.00002
|
|
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr)
|
rs751126921
|
0.00002
|
|
NM_001018115.3(FANCD2):c.903T>A (p.Leu301=)
|
rs752360517
|
0.00002
|
|
NM_001022.4(RPS19):c.87A>G (p.Lys29=)
|
rs11540256
|
0.00002
|
|
NM_001029.5(RPS26):c.207G>C (p.Val69=)
|
rs776240183
|
0.00002
|
|
NM_001113378.2(FANCI):c.1092C>T (p.Ile364=)
|
rs147055918
|
0.00002
|
|
NM_001113378.2(FANCI):c.1112+8G>C
|
rs761741904
|
0.00002
|
|
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=)
|
rs201871288
|
0.00002
|
|
NM_001113378.2(FANCI):c.1513-16A>C
|
rs768296894
|
0.00002
|
|
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser)
|
rs774909787
|
0.00002
|
|
NM_001113378.2(FANCI):c.1699-20T>C
|
rs770951736
|
0.00002
|
|
NM_001113378.2(FANCI):c.1716C>T (p.His572=)
|
rs750999079
|
0.00002
|
|
NM_001113378.2(FANCI):c.1741G>A (p.Glu581Lys)
|
rs768875486
|
0.00002
|
|
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly)
|
rs1262508273
|
0.00002
|
|
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)
|
rs369268726
|
0.00002
|
|
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile)
|
rs200007022
|
0.00002
|
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
|
NM_001113378.2(FANCI):c.1822-7C>G
|
rs758739224
|
0.00002
|
|
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys)
|
rs749295501
|
0.00002
|
|
NM_001113378.2(FANCI):c.1890+10A>G
|
rs201954421
|
0.00002
|
|
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=)
|
rs750462548
|
0.00002
|
|
NM_001113378.2(FANCI):c.197G>A (p.Arg66His)
|
rs779515039
|
0.00002
|
|
NM_001113378.2(FANCI):c.2026G>T (p.Ala676Ser)
|
rs756986642
|
0.00002
|
|
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser)
|
rs774148630
|
0.00002
|
|
NM_001113378.2(FANCI):c.2170-3T>C
|
rs757908899
|
0.00002
|
|
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His)
|
rs752028405
|
0.00002
|
|
NM_001113378.2(FANCI):c.2336A>G (p.Lys779Arg)
|
rs1323965441
|
0.00002
|
|
NM_001113378.2(FANCI):c.2454C>T (p.Phe818=)
|
rs747796401
|
0.00002
|
|
NM_001113378.2(FANCI):c.2636+20T>C
|
rs767625078
|
0.00002
|
|
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys)
|
rs200907824
|
0.00002
|
|
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
|
rs562503186
|
0.00002
|
|
NM_001113378.2(FANCI):c.3016A>G (p.Met1006Val)
|
rs781108611
|
0.00002
|
|
NM_001113378.2(FANCI):c.3124C>G (p.Pro1042Ala)
|
rs752438879
|
0.00002
|
|
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
|
rs746204528
|
0.00002
|
|
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val)
|
rs142756279
|
0.00002
|
|
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met)
|
rs922792253
|
0.00002
|
|
NM_001113378.2(FANCI):c.3549G>A (p.Val1183=)
|
rs774699547
|
0.00002
|
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
|
NM_001113378.2(FANCI):c.3816+6C>T
|
rs989969696
|
0.00002
|
|
NM_001113378.2(FANCI):c.3925-4C>T
|
rs765962856
|
0.00002
|
|
NM_001113378.2(FANCI):c.503+11T>C
|
rs749071182
|
0.00002
|
|
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys)
|
rs751222800
|
0.00002
|
|
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe)
|
rs1435589915
|
0.00002
|
|
NM_001113378.2(FANCI):c.755+9T>C
|
rs369467223
|
0.00002
|
|
NM_001113378.2(FANCI):c.875A>G (p.His292Arg)
|
rs764641724
|
0.00002
|
|
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)
|
rs769485443
|
0.00002
|
|
NM_001113378.2(FANCI):c.975+7T>C
|
rs766659063
|
0.00002
|
|
NM_001113378.2(FANCI):c.976-5T>C
|
rs775680372
|
0.00002
|
|
NM_001113525.2(ZNF276):c.*480G>C
|
rs781731674
|
0.00002
|
|
NM_001113525.2(ZNF276):c.*732G>T
|
rs775180524
|
0.00002
|
|
NM_002049.4(GATA1):c.1041G>A (p.Gly347=)
|
rs1412419664
|
0.00002
|
|
NM_002049.4(GATA1):c.1170C>G (p.Pro390=)
|
rs782167312
|
0.00002
|
|
NM_002049.4(GATA1):c.1176C>G (p.Gly392=)
|
rs782094568
|
0.00002
|
|
NM_002049.4(GATA1):c.1208C>T (p.Thr403Ile)
|
rs782599587
|
0.00002
|
|
NM_002049.4(GATA1):c.220+12G>A
|
rs2062674583
|
0.00002
|
|
NM_002049.4(GATA1):c.302C>T (p.Thr101Met)
|
rs200599207
|
0.00002
|
|
NM_002049.4(GATA1):c.360C>T (p.Ala120=)
|
rs782008052
|
0.00002
|
|
NM_002049.4(GATA1):c.419G>A (p.Arg140Gln)
|
rs997764249
|
0.00002
|
|
NM_002049.4(GATA1):c.482G>C (p.Ser161Thr)
|
rs782651118
|
0.00002
|
|
NM_002049.4(GATA1):c.534C>A (p.Ser178Arg)
|
rs782193818
|
0.00002
|
|
NM_002049.4(GATA1):c.599-9C>T
|
rs1369447266
|
0.00002
|
|
NM_002049.4(GATA1):c.740G>A (p.Arg247His)
|
rs782534643
|
0.00002
|
|
NM_002049.4(GATA1):c.821G>A (p.Ser274Asn)
|
rs374457234
|
0.00002
|
|
NM_002049.4(GATA1):c.822T>C (p.Ser274=)
|
rs781852329
|
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.1155C>T (p.Pro385=)
|
rs1217203217
|
0.00002
|
|
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter)
|
rs776122485
|
0.00002
|
|
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg)
|
rs759285011
|
0.00002
|
|
NM_004629.2(FANCG):c.1335G>A (p.Leu445=)
|
rs780612204
|
0.00002
|
|
NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu)
|
rs757442131
|
0.00002
|
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
|
NM_004629.2(FANCG):c.1581C>T (p.Ser527=)
|
rs768671803
|
0.00002
|
|
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)
|
rs779834525
|
0.00002
|
|
NM_004629.2(FANCG):c.1677G>A (p.Lys559=)
|
rs779403243
|
0.00002
|
|
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)
|
rs750212705
|
0.00002
|
|
NM_004629.2(FANCG):c.176-10G>A
|
rs376273679
|
0.00002
|
|
NM_004629.2(FANCG):c.308-8C>T
|
rs776375811
|
0.00002
|
|
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly)
|
rs200074432
|
0.00002
|
|
NM_004629.2(FANCG):c.583T>C (p.Leu195=)
|
rs370461759
|
0.00002
|
|
NM_004629.2(FANCG):c.635C>T (p.Ala212Val)
|
rs375754266
|
0.00002
|
|
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)
|
rs745833004
|
0.00002
|
|
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)
|
rs753728949
|
0.00002
|
|
NM_005236.3(ERCC4):c.105C>T (p.Cys35=)
|
rs762885804
|
0.00002
|
|
NM_005236.3(ERCC4):c.1214-19T>C
|
rs747124669
|
0.00002
|
|
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met)
|
rs761301503
|
0.00002
|
|
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr)
|
rs779538282
|
0.00002
|
|
NM_005236.3(ERCC4):c.1452C>A (p.Thr484=)
|
rs1420641422
|
0.00002
|
|
NM_005236.3(ERCC4):c.1620G>A (p.Ser540=)
|
rs769817145
|
0.00002
|
|
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala)
|
rs773850619
|
0.00002
|
|
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu)
|
rs752894496
|
0.00002
|
|
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met)
|
rs201501958
|
0.00002
|
|
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=)
|
rs373510515
|
0.00002
|
|
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)
|
rs200069811
|
0.00002
|
|
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys)
|
rs769932063
|
0.00002
|
|
NM_005236.3(ERCC4):c.2604C>T (p.His868=)
|
rs370809250
|
0.00002
|
|
NM_005236.3(ERCC4):c.2607C>T (p.His869=)
|
rs769736716
|
0.00002
|
|
NM_005236.3(ERCC4):c.540A>G (p.Arg180=)
|
rs765599689
|
0.00002
|
|
NM_005236.3(ERCC4):c.700A>C (p.Asn234His)
|
rs368218302
|
0.00002
|
|
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln)
|
rs202243691
|
0.00002
|
|
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val)
|
rs140758986
|
0.00002
|
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
|
NM_018062.4(FANCL):c.375-14C>G
|
rs1361463338
|
0.00002
|
|
NM_018062.4(FANCL):c.428C>T (p.Ala143Val)
|
rs756000370
|
0.00002
|
|
NM_018062.4(FANCL):c.500T>C (p.Val167Ala)
|
rs1338440311
|
0.00002
|
|
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
|
rs745526326
|
0.00002
|
|
NM_018062.4(FANCL):c.775+13A>C
|
rs764413990
|
0.00002
|
|
NM_018062.4(FANCL):c.810C>A (p.Asn270Lys)
|
rs750050199
|
0.00002
|
|
NM_018062.4(FANCL):c.969G>A (p.Val323=)
|
rs200819615
|
0.00002
|
|
NM_020937.4(FANCM):c.1009G>C (p.Ala337Pro)
|
rs1210888568
|
0.00002
|
|
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser)
|
rs369752557
|
0.00002
|
|
NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr)
|
rs150185654
|
0.00002
|
|
NM_020937.4(FANCM):c.1131G>A (p.Met377Ile)
|
rs760935075
|
0.00002
|
|
NM_020937.4(FANCM):c.1255A>G (p.Met419Val)
|
rs552281088
|
0.00002
|
|
NM_020937.4(FANCM):c.1270C>T (p.Arg424Cys)
|
rs537833024
|
0.00002
|
|
NM_020937.4(FANCM):c.1420C>T (p.Arg474Cys)
|
rs999205481
|
0.00002
|
|
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter)
|
rs1011870043
|
0.00002
|
|
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu)
|
rs1226481393
|
0.00002
|
|
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg)
|
rs371569048
|
0.00002
|
|
NM_020937.4(FANCM):c.1702A>G (p.Ile568Val)
|
rs558763945
|
0.00002
|
|
NM_020937.4(FANCM):c.1822A>G (p.Ile608Val)
|
rs761833981
|
0.00002
|
|
NM_020937.4(FANCM):c.184T>C (p.Tyr62His)
|
rs746609446
|
0.00002
|
|
NM_020937.4(FANCM):c.1892A>G (p.Asp631Gly)
|
rs753713103
|
0.00002
|
|
NM_020937.4(FANCM):c.1915A>G (p.Lys639Glu)
|
rs745669373
|
0.00002
|
|
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln)
|
rs763495035
|
0.00002
|
|
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser)
|
rs368303133
|
0.00002
|
|
NM_020937.4(FANCM):c.2161-9A>T
|
rs752101829
|
0.00002
|
|
NM_020937.4(FANCM):c.2306G>A (p.Arg769Lys)
|
rs548624235
|
0.00002
|
|
NM_020937.4(FANCM):c.242C>T (p.Ala81Val)
|
rs538464580
|
0.00002
|
|
NM_020937.4(FANCM):c.2543C>G (p.Thr848Ser)
|
rs889187666
|
0.00002
|
|
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu)
|
rs188528606
|
0.00002
|
|
NM_020937.4(FANCM):c.2596C>T (p.Leu866Phe)
|
rs367576875
|
0.00002
|
|
NM_020937.4(FANCM):c.2628T>C (p.Asp876=)
|
rs374313777
|
0.00002
|
|
NM_020937.4(FANCM):c.2734A>G (p.Ile912Val)
|
rs45568842
|
0.00002
|
|
NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser)
|
rs750238406
|
0.00002
|
|
NM_020937.4(FANCM):c.2815G>A (p.Gly939Arg)
|
rs1037864411
|
0.00002
|
|
NM_020937.4(FANCM):c.2878T>C (p.Phe960Leu)
|
rs761671822
|
0.00002
|
|
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys)
|
rs200017450
|
0.00002
|
|
NM_020937.4(FANCM):c.2903A>G (p.Tyr968Cys)
|
rs752962214
|
0.00002
|
|
NM_020937.4(FANCM):c.2920G>A (p.Asp974Asn)
|
rs753999208
|
0.00002
|
|
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile)
|
rs772477865
|
0.00002
|
|
NM_020937.4(FANCM):c.3137A>G (p.Gln1046Arg)
|
rs910679351
|
0.00002
|
|
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser)
|
rs747787931
|
0.00002
|
|
NM_020937.4(FANCM):c.3347A>G (p.His1116Arg)
|
rs778621580
|
0.00002
|
|
NM_020937.4(FANCM):c.3355G>C (p.Asp1119His)
|
rs370618524
|
0.00002
|
|
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn)
|
rs142077813
|
0.00002
|
|
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=)
|
rs771150480
|
0.00002
|
|
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala)
|
rs1227473930
|
0.00002
|
|
NM_020937.4(FANCM):c.3558T>C (p.Asn1186=)
|
rs757952471
|
0.00002
|
|
NM_020937.4(FANCM):c.3609T>G (p.Ser1203=)
|
rs372956385
|
0.00002
|
|
NM_020937.4(FANCM):c.3610C>T (p.Arg1204Cys)
|
rs763796272
|
0.00002
|
|
NM_020937.4(FANCM):c.3869C>T (p.Thr1290Ile)
|
rs759166551
|
0.00002
|
|
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro)
|
rs200028975
|
0.00002
|
|
NM_020937.4(FANCM):c.4004A>C (p.Lys1335Thr)
|
rs765026410
|
0.00002
|
|
NM_020937.4(FANCM):c.4271G>A (p.Arg1424Gln)
|
rs1393856350
|
0.00002
|
|
NM_020937.4(FANCM):c.4292A>G (p.Lys1431Arg)
|
rs752438783
|
0.00002
|
|
NM_020937.4(FANCM):c.4440A>G (p.Gln1480=)
|
rs567425336
|
0.00002
|
|
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val)
|
rs765860916
|
0.00002
|
|
NM_020937.4(FANCM):c.4622C>T (p.Ser1541Leu)
|
rs776313378
|
0.00002
|
|
NM_020937.4(FANCM):c.4775C>T (p.Ser1592Leu)
|
rs759778560
|
0.00002
|
|
NM_020937.4(FANCM):c.4784C>A (p.Pro1595His)
|
rs750818919
|
0.00002
|
|
NM_020937.4(FANCM):c.4833G>A (p.Glu1611=)
|
rs1479169742
|
0.00002
|
|
NM_020937.4(FANCM):c.4949A>T (p.Lys1650Ile)
|
rs140993629
|
0.00002
|
|
NM_020937.4(FANCM):c.497C>A (p.Ala166Asp)
|
rs555879731
|
0.00002
|
|
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)
|
rs759068569
|
0.00002
|
|
NM_020937.4(FANCM):c.5174A>G (p.Asn1725Ser)
|
rs765200148
|
0.00002
|
|
NM_020937.4(FANCM):c.5208G>A (p.Leu1736=)
|
rs746368298
|
0.00002
|
|
NM_020937.4(FANCM):c.5250T>G (p.Pro1750=)
|
rs750305966
|
0.00002
|
|
NM_020937.4(FANCM):c.5340+18G>A
|
rs765324547
|
0.00002
|
|
NM_020937.4(FANCM):c.5341-18T>C
|
rs1479142290
|
0.00002
|
|
NM_020937.4(FANCM):c.5399C>A (p.Pro1800Gln)
|
rs1449697144
|
0.00002
|
|
NM_020937.4(FANCM):c.5407G>A (p.Ala1803Thr)
|
rs749034471
|
0.00002
|
|
NM_020937.4(FANCM):c.5419A>G (p.Thr1807Ala)
|
rs369834971
|
0.00002
|
|
NM_020937.4(FANCM):c.5436G>A (p.Pro1812=)
|
rs377630399
|
0.00002
|
|
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val)
|
rs763226965
|
0.00002
|
|
NM_020937.4(FANCM):c.5631G>C (p.Lys1877Asn)
|
rs761269508
|
0.00002
|
|
NM_020937.4(FANCM):c.5668A>G (p.Met1890Val)
|
rs1413874546
|
0.00002
|
|
NM_020937.4(FANCM):c.5685T>C (p.Cys1895=)
|
rs746870942
|
0.00002
|
|
NM_020937.4(FANCM):c.5708A>G (p.Glu1903Gly)
|
rs569435551
|
0.00002
|
|
NM_020937.4(FANCM):c.5753A>G (p.Tyr1918Cys)
|
rs746039296
|
0.00002
|
|
NM_020937.4(FANCM):c.5849T>C (p.Leu1950Ser)
|
rs559661870
|
0.00002
|
|
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala)
|
rs757062269
|
0.00002
|
|
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg)
|
rs139736490
|
0.00002
|
|
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys)
|
rs750156990
|
0.00002
|
|
NM_020937.4(FANCM):c.6099A>G (p.Gln2033=)
|
rs757734261
|
0.00002
|
|
NM_020937.4(FANCM):c.637A>G (p.Ile213Val)
|
rs754976437
|
0.00002
|
|
NM_020937.4(FANCM):c.63G>C (p.Gly21=)
|
rs563248675
|
0.00002
|
|
NM_020937.4(FANCM):c.681+12G>A
|
rs200644561
|
0.00002
|
|
NM_020937.4(FANCM):c.840T>C (p.Tyr280=)
|
rs777422576
|
0.00002
|
|
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln)
|
rs373268822
|
0.00002
|
|
NM_020937.4(FANCM):c.919-8A>G
|
rs781119621
|
0.00002
|
|
NM_020937.4(FANCM):c.996T>C (p.Tyr332=)
|
rs752677621
|
0.00002
|
|
NM_021922.3(FANCE):c.1237+8T>A
|
rs1767499963
|
0.00002
|
|
NM_021922.3(FANCE):c.1316+18C>T
|
rs768893669
|
0.00002
|
|
NM_021922.3(FANCE):c.1383+3G>A
|
rs752468400
|
0.00002
|
|
NM_021922.3(FANCE):c.1489A>G (p.Met497Val)
|
rs781338655
|
0.00002
|
|
NM_021922.3(FANCE):c.1510-12C>G
|
rs747704642
|
0.00002
|
|
NM_021922.3(FANCE):c.399C>T (p.Leu133=)
|
rs1056749845
|
0.00002
|
|
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg)
|
rs767509954
|
0.00002
|
|
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)
|
rs771767241
|
0.00002
|
|
NM_021922.3(FANCE):c.851T>C (p.Ile284Thr)
|
rs370661452
|
0.00002
|
|
NM_021922.3(FANCE):c.855+6T>G
|
rs1185107943
|
0.00002
|
|
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile)
|
rs1405929258
|
0.00002
|
|
NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly)
|
rs1475613789
|
0.00002
|
|
NM_021922.3(FANCE):c.970-15G>A
|
rs369631267
|
0.00002
|
|
NM_021922.3(FANCE):c.981G>A (p.Leu327=)
|
rs772385794
|
0.00002
|
|
NM_022725.4(FANCF):c.134A>G (p.His45Arg)
|
rs767088554
|
0.00002
|
|
NM_022725.4(FANCF):c.268G>A (p.Asp90Asn)
|
rs370200638
|
0.00002
|
|
NM_022725.4(FANCF):c.279C>T (p.Leu93=)
|
rs199578614
|
0.00002
|
|
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala)
|
rs1328802237
|
0.00002
|
|
NM_022725.4(FANCF):c.654C>G (p.Pro218=)
|
rs779948183
|
0.00002
|
|
NM_022725.4(FANCF):c.701G>A (p.Ser234Asn)
|
rs373273222
|
0.00002
|
|
NM_022725.4(FANCF):c.772G>A (p.Gly258Arg)
|
rs754977013
|
0.00002
|
|
NM_022725.4(FANCF):c.986T>C (p.Leu329Pro)
|
rs766964364
|
0.00002
|
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
|
NM_032043.3(BRIP1):c.1340+7A>T
|
rs755399646
|
0.00002
|
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
|
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser)
|
rs780310294
|
0.00002
|
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
|
NM_032043.3(BRIP1):c.151G>A (p.Gly51Arg)
|
rs1603367704
|
0.00002
|
|
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)
|
rs372760869
|
0.00002
|
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
|
NM_032043.3(BRIP1):c.1752T>C (p.Thr584=)
|
rs778774207
|
0.00002
|
|
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)
|
rs876660519
|
0.00002
|
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
|
NM_032043.3(BRIP1):c.2129C>T (p.Ser710Phe)
|
rs768393936
|
0.00002
|
|
NM_032043.3(BRIP1):c.2258-15T>C
|
rs780573511
|
0.00002
|
|
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=)
|
rs748981650
|
0.00002
|
|
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp)
|
rs745782331
|
0.00002
|
|
NM_032043.3(BRIP1):c.2575+7T>A
|
rs750874535
|
0.00002
|
|
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)
|
rs1060501733
|
0.00002
|
|
NM_032043.3(BRIP1):c.2751T>C (p.Ser917=)
|
rs150780318
|
0.00002
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
|
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)
|
rs113697814
|
0.00002
|
|
NM_032043.3(BRIP1):c.2905+15T>G
|
rs749855085
|
0.00002
|
|
NM_032043.3(BRIP1):c.2905+4T>C
|
rs373835270
|
0.00002
|
|
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)
|
rs587782808
|
0.00002
|
|
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu)
|
rs575998972
|
0.00002
|
|
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser)
|
rs916937983
|
0.00002
|
|
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg)
|
rs772709195
|
0.00002
|
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
|
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln)
|
rs201790351
|
0.00002
|
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
|
NM_032043.3(BRIP1):c.3334G>T (p.Asp1112Tyr)
|
rs968860042
|
0.00002
|
|
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala)
|
rs779860140
|
0.00002
|
|
NM_032043.3(BRIP1):c.3489T>C (p.Asp1163=)
|
rs144245485
|
0.00002
|
|
NM_032043.3(BRIP1):c.3546C>T (p.Ala1182=)
|
rs755440956
|
0.00002
|
|
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)
|
rs777630298
|
0.00002
|
|
NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro)
|
rs781140410
|
0.00002
|
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
|
NM_032043.3(BRIP1):c.397A>T (p.Thr133Ser)
|
rs764256720
|
0.00002
|
|
NM_032043.3(BRIP1):c.507+14A>G
|
rs754102734
|
0.00002
|
|
NM_032043.3(BRIP1):c.507+20A>C
|
rs369270945
|
0.00002
|
|
NM_032043.3(BRIP1):c.518G>A (p.Arg173His)
|
rs761432927
|
0.00002
|
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
|
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)
|
rs777618772
|
0.00002
|
|
NM_032043.3(BRIP1):c.662C>G (p.Thr221Ser)
|
rs373774920
|
0.00002
|
|
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile)
|
rs745955726
|
0.00002
|
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
|
NM_032043.3(BRIP1):c.859G>A (p.Glu287Lys)
|
rs1309409845
|
0.00002
|
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
|
NM_032043.3(BRIP1):c.94-4A>G
|
rs765154059
|
0.00002
|
|
NM_032444.4(SLX4):c.1125A>G (p.Thr375=)
|
rs369510675
|
0.00002
|
|
NM_032444.4(SLX4):c.1150C>A (p.Pro384Thr)
|
rs778504083
|
0.00002
|
|
NM_032444.4(SLX4):c.1163+5G>T
|
rs762454252
|
0.00002
|
|
NM_032444.4(SLX4):c.1163+8G>A
|
rs777094715
|
0.00002
|
|
NM_032444.4(SLX4):c.1192C>T (p.Arg398Trp)
|
rs138799572
|
0.00002
|
|
NM_032444.4(SLX4):c.1234A>G (p.Lys412Glu)
|
rs774436086
|
0.00002
|
|
NM_032444.4(SLX4):c.1255G>A (p.Glu419Lys)
|
rs941244697
|
0.00002
|
|
NM_032444.4(SLX4):c.1335T>G (p.Ser445Arg)
|
rs904007909
|
0.00002
|
|
NM_032444.4(SLX4):c.1404C>G (p.Pro468=)
|
rs765351696
|
0.00002
|
|
NM_032444.4(SLX4):c.1500G>A (p.Thr500=)
|
rs747483922
|
0.00002
|
|
NM_032444.4(SLX4):c.1574G>A (p.Arg525His)
|
rs756369289
|
0.00002
|
|
NM_032444.4(SLX4):c.166G>A (p.Ala56Thr)
|
rs746769352
|
0.00002
|
|
NM_032444.4(SLX4):c.1782C>T (p.Gly594=)
|
rs1356071644
|
0.00002
|
|
NM_032444.4(SLX4):c.1806T>C (p.Pro602=)
|
rs925073189
|
0.00002
|
|
NM_032444.4(SLX4):c.1944C>T (p.Gly648=)
|
rs149315267
|
0.00002
|
|
NM_032444.4(SLX4):c.1977G>A (p.Ser659=)
|
rs572117922
|
0.00002
|
|
NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu)
|
rs369805557
|
0.00002
|
|
NM_032444.4(SLX4):c.1994A>G (p.Asp665Gly)
|
rs748574820
|
0.00002
|
|
NM_032444.4(SLX4):c.2013+19C>T
|
rs1463441770
|
0.00002
|
|
NM_032444.4(SLX4):c.2013+20C>T
|
rs779231117
|
0.00002
|
|
NM_032444.4(SLX4):c.2013+8C>A
|
rs372272797
|
0.00002
|
|
NM_032444.4(SLX4):c.2055C>T (p.Val685=)
|
rs775934995
|
0.00002
|
|
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu)
|
rs749399683
|
0.00002
|
|
NM_032444.4(SLX4):c.2157G>T (p.Gln719His)
|
rs768316000
|
0.00002
|
|
NM_032444.4(SLX4):c.2169T>C (p.Asn723=)
|
rs750908864
|
0.00002
|
|
NM_032444.4(SLX4):c.217G>C (p.Glu73Gln)
|
rs139829211
|
0.00002
|
|
NM_032444.4(SLX4):c.2246G>A (p.Arg749His)
|
rs140109914
|
0.00002
|
|
NM_032444.4(SLX4):c.2256G>A (p.Leu752=)
|
rs767795477
|
0.00002
|
|
NM_032444.4(SLX4):c.2301C>T (p.Ser767=)
|
rs555778729
|
0.00002
|
|
NM_032444.4(SLX4):c.2328-17G>A
|
rs766325618
|
0.00002
|
|
NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro)
|
rs762300440
|
0.00002
|
|
NM_032444.4(SLX4):c.2658T>G (p.Val886=)
|
rs769552773
|
0.00002
|
|
NM_032444.4(SLX4):c.2767A>T (p.Met923Leu)
|
rs573280243
|
0.00002
|
|
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val)
|
rs781462011
|
0.00002
|
|
NM_032444.4(SLX4):c.2950G>A (p.Glu984Lys)
|
rs750906921
|
0.00002
|
|
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg)
|
rs776060270
|
0.00002
|
|
NM_032444.4(SLX4):c.3137G>A (p.Arg1046His)
|
rs1008752654
|
0.00002
|
|
NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met)
|
rs773890423
|
0.00002
|
|
NM_032444.4(SLX4):c.3316G>A (p.Val1106Met)
|
rs200057338
|
0.00002
|
|
NM_032444.4(SLX4):c.3321G>A (p.Leu1107=)
|
rs367891675
|
0.00002
|
|
NM_032444.4(SLX4):c.3471G>A (p.Ser1157=)
|
rs748090102
|
0.00002
|
|
NM_032444.4(SLX4):c.3481C>T (p.Leu1161=)
|
rs371122297
|
0.00002
|
|
NM_032444.4(SLX4):c.3583A>G (p.Ile1195Val)
|
rs370761463
|
0.00002
|
|
NM_032444.4(SLX4):c.3669G>A (p.Pro1223=)
|
rs200407926
|
0.00002
|
|
NM_032444.4(SLX4):c.3677G>A (p.Arg1226Gln)
|
rs748607152
|
0.00002
|
|
NM_032444.4(SLX4):c.36C>T (p.Phe12=)
|
rs775948210
|
0.00002
|
|
NM_032444.4(SLX4):c.3846G>A (p.Leu1282=)
|
rs1040333386
|
0.00002
|
|
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met)
|
rs754761366
|
0.00002
|
|
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr)
|
rs763524714
|
0.00002
|
|
NM_032444.4(SLX4):c.3951G>A (p.Pro1317=)
|
rs147600630
|
0.00002
|
|
NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu)
|
rs778781581
|
0.00002
|
|
NM_032444.4(SLX4):c.3977C>T (p.Thr1326Ile)
|
rs371394594
|
0.00002
|
|
NM_032444.4(SLX4):c.3982G>A (p.Val1328Ile)
|
rs1394177026
|
0.00002
|
|
NM_032444.4(SLX4):c.401C>T (p.Ala134Val)
|
rs759574554
|
0.00002
|
|
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)
|
rs747230215
|
0.00002
|
|
NM_032444.4(SLX4):c.4069C>A (p.Leu1357Met)
|
rs775694333
|
0.00002
|
|
NM_032444.4(SLX4):c.4116G>T (p.Arg1372=)
|
rs765606538
|
0.00002
|
|
NM_032444.4(SLX4):c.4144A>G (p.Ser1382Gly)
|
rs767790750
|
0.00002
|
|
NM_032444.4(SLX4):c.4155C>G (p.Asn1385Lys)
|
rs1308197455
|
0.00002
|
|
NM_032444.4(SLX4):c.4377C>T (p.Asn1459=)
|
rs773941480
|
0.00002
|
|
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser)
|
rs372321470
|
0.00002
|
|
NM_032444.4(SLX4):c.4449T>C (p.Thr1483=)
|
rs145444328
|
0.00002
|
|
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val)
|
rs777033175
|
0.00002
|
|
NM_032444.4(SLX4):c.4539T>C (p.Val1513=)
|
rs146731362
|
0.00002
|
|
NM_032444.4(SLX4):c.4685C>T (p.Pro1562Leu)
|
rs1423103812
|
0.00002
|
|
NM_032444.4(SLX4):c.4715C>T (p.Pro1572Leu)
|
rs182432298
|
0.00002
|
|
NM_032444.4(SLX4):c.4739+7G>A
|
rs748897456
|
0.00002
|
|
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)
|
rs370775954
|
0.00002
|
|
NM_032444.4(SLX4):c.4870C>G (p.Pro1624Ala)
|
rs759305861
|
0.00002
|
|
NM_032444.4(SLX4):c.4953T>C (p.Pro1651=)
|
rs1448549529
|
0.00002
|
|
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg)
|
rs765960272
|
0.00002
|
|
NM_032444.4(SLX4):c.5093C>A (p.Ala1698Asp)
|
rs967813945
|
0.00002
|
|
NM_032444.4(SLX4):c.5106C>T (p.Ser1702=)
|
rs1421905027
|
0.00002
|
|
NM_032444.4(SLX4):c.5153+19T>C
|
rs374696176
|
0.00002
|
|
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter)
|
rs776789371
|
0.00002
|
|
NM_032444.4(SLX4):c.5247G>A (p.Ala1749=)
|
rs775552034
|
0.00002
|
|
NM_032444.4(SLX4):c.5423T>G (p.Phe1808Cys)
|
rs371390105
|
0.00002
|
|
NM_032444.4(SLX4):c.5457G>A (p.Gln1819=)
|
rs1471160430
|
0.00002
|
|
NM_032444.4(SLX4):c.700G>A (p.Glu234Lys)
|
rs149779179
|
0.00002
|
|
NM_032444.4(SLX4):c.760+4T>C
|
rs552926547
|
0.00002
|
|
NM_032444.4(SLX4):c.795C>T (p.Asp265=)
|
rs751115644
|
0.00002
|
|
NM_032444.4(SLX4):c.7C>T (p.Leu3=)
|
rs751472980
|
0.00002
|
|
NM_032444.4(SLX4):c.801G>A (p.Ala267=)
|
rs375643423
|
0.00002
|
|
NM_032444.4(SLX4):c.802G>A (p.Val268Met)
|
rs1060501798
|
0.00002
|
|
NM_032444.4(SLX4):c.846G>A (p.Ser282=)
|
rs745750001
|
0.00002
|
|
NM_032444.4(SLX4):c.853G>A (p.Asp285Asn)
|
rs749002564
|
0.00002
|
|
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln)
|
rs571996250
|
0.00002
|
|
NM_033022.4(RPS24):c.60G>A (p.Arg20=)
|
rs751090185
|
0.00002
|
|
NM_033022.4(RPS24):c.6C>T (p.Asn2=)
|
rs746098498
|
0.00002
|
|
NM_033022.4(RPS24):c.82C>G (p.Leu28Val)
|
rs775383590
|
0.00002
|
|
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)
|
rs773998134
|
0.00002
|
|
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=)
|
rs559647198
|
0.00002
|
|
NM_058216.3(RAD51C):c.1117G>A (p.Glu373Lys)
|
rs1433497291
|
0.00002
|
|
NM_058216.3(RAD51C):c.146-3C>T
|
rs765143155
|
0.00002
|
|
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
|
NM_058216.3(RAD51C):c.315A>G (p.Ser105=)
|
rs876660032
|
0.00002
|
|
NM_058216.3(RAD51C):c.354G>C (p.Met118Ile)
|
rs768238518
|
0.00002
|
|
NM_058216.3(RAD51C):c.397C>G (p.Gln133Glu)
|
rs387907159
|
0.00002
|
|
NM_058216.3(RAD51C):c.451G>A (p.Val151Met)
|
rs753912045
|
0.00002
|
|
NM_058216.3(RAD51C):c.453G>A (p.Val151=)
|
rs45553636
|
0.00002
|
|
NM_058216.3(RAD51C):c.481G>C (p.Glu161Gln)
|
rs768903850
|
0.00002
|
|
NM_058216.3(RAD51C):c.513C>T (p.Asp171=)
|
rs140279158
|
0.00002
|
|
NM_058216.3(RAD51C):c.537C>A (p.His179Gln)
|
rs372385738
|
0.00002
|
|
NM_058216.3(RAD51C):c.571+15G>T
|
rs375007340
|
0.00002
|
|
NM_058216.3(RAD51C):c.571+20T>C
|
rs577697136
|
0.00002
|
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00002
|
|
NM_058216.3(RAD51C):c.704A>C (p.Lys235Thr)
|
rs748043225
|
0.00002
|
|
NM_058216.3(RAD51C):c.705+10A>G
|
rs377586976
|
0.00002
|
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
|
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)
|
rs539341386
|
0.00002
|
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
|
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp)
|
rs374196453
|
0.00002
|
|
NM_058216.3(RAD51C):c.837+14A>G
|
rs1057517644
|
0.00002
|
|
NM_058216.3(RAD51C):c.837+1G>A
|
rs760235677
|
0.00002
|
|
NM_058216.3(RAD51C):c.904+17A>G
|
rs760664998
|
0.00002
|
|
NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly)
|
rs786203498
|
0.00002
|
|
NM_058216.3(RAD51C):c.945T>C (p.Phe315=)
|
rs201235884
|
0.00002
|
|
NM_058216.3(RAD51C):c.948T>C (p.His316=)
|
rs773196250
|
0.00002
|
|
NM_000135.4(FANCA):c.1006+10G>A
|
rs762536802
|
0.00001
|
|
NM_000135.4(FANCA):c.1007-17T>C
|
rs760059831
|
0.00001
|
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
|
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)
|
rs772858764
|
0.00001
|
|
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys)
|
rs374835951
|
0.00001
|
|
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
|
rs755018069
|
0.00001
|
|
NM_000135.4(FANCA):c.1068C>G (p.Thr356=)
|
rs1161525939
|
0.00001
|
|
NM_000135.4(FANCA):c.1077C>T (p.Tyr359=)
|
rs2040108827
|
0.00001
|
|
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
|
rs375895456
|
0.00001
|
|
NM_000135.4(FANCA):c.107A>G (p.Asn36Ser)
|
rs1210459454
|
0.00001
|
|
NM_000135.4(FANCA):c.1084-18C>T
|
rs368730853
|
0.00001
|
|
NM_000135.4(FANCA):c.1084-7A>T
|
rs543350684
|
0.00001
|
|
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser)
|
rs780833865
|
0.00001
|
|
NM_000135.4(FANCA):c.1137G>A (p.Leu379=)
|
rs372829977
|
0.00001
|
|
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala)
|
rs774319222
|
0.00001
|
|
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)
|
rs769718381
|
0.00001
|
|
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
|
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr)
|
rs757760966
|
0.00001
|
|
NM_000135.4(FANCA):c.1158G>T (p.Trp386Cys)
|
rs752864343
|
0.00001
|
|
NM_000135.4(FANCA):c.1194C>T (p.Val398=)
|
rs1158857420
|
0.00001
|
|
NM_000135.4(FANCA):c.1203A>G (p.Pro401=)
|
rs1180493781
|
0.00001
|
|
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg)
|
rs769664248
|
0.00001
|
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
|
NM_000135.4(FANCA):c.1221T>G (p.Leu407=)
|
rs780963734
|
0.00001
|
|
NM_000135.4(FANCA):c.1225+7T>C
|
rs200008791
|
0.00001
|
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
|
NM_000135.4(FANCA):c.1226-6A>T
|
rs200953509
|
0.00001
|
|
NM_000135.4(FANCA):c.1233G>A (p.Val411=)
|
rs781735964
|
0.00001
|
|
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)
|
rs912838333
|
0.00001
|
|
NM_000135.4(FANCA):c.1247C>A (p.Ala416Asp)
|
rs750689577
|
0.00001
|
|
NM_000135.4(FANCA):c.1251G>T (p.Gln417His)
|
rs779068860
|
0.00001
|
|
NM_000135.4(FANCA):c.1257C>T (p.Phe419=)
|
rs764140346
|
0.00001
|
|
NM_000135.4(FANCA):c.1265G>A (p.Cys422Tyr)
|
rs759128726
|
0.00001
|
|
NM_000135.4(FANCA):c.1279A>G (p.Met427Val)
|
rs368103890
|
0.00001
|
|
NM_000135.4(FANCA):c.1284C>T (p.Val428=)
|
rs780409039
|
0.00001
|
|
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val)
|
rs772567344
|
0.00001
|
|
NM_000135.4(FANCA):c.1297G>A (p.Val433Ile)
|
rs753987812
|
0.00001
|
|
NM_000135.4(FANCA):c.1305C>T (p.Arg435=)
|
rs756132296
|
0.00001
|
|
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys)
|
rs142990858
|
0.00001
|
|
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn)
|
rs1262122499
|
0.00001
|
|
NM_000135.4(FANCA):c.1360-12C>T
|
rs951725614
|
0.00001
|
|
NM_000135.4(FANCA):c.1360-15C>G
|
rs773560865
|
0.00001
|
|
NM_000135.4(FANCA):c.1365C>T (p.Ser455=)
|
rs897548553
|
0.00001
|
|
NM_000135.4(FANCA):c.136T>C (p.Ser46Pro)
|
rs2041098152
|
0.00001
|
|
NM_000135.4(FANCA):c.1380A>G (p.Arg460=)
|
rs1035276734
|
0.00001
|
|
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg)
|
rs565303230
|
0.00001
|
|
NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn)
|
rs755713516
|
0.00001
|
|
NM_000135.4(FANCA):c.1416C>T (p.Phe472=)
|
rs750815711
|
0.00001
|
|
NM_000135.4(FANCA):c.1419G>C (p.Leu473=)
|
rs1337670144
|
0.00001
|
|
NM_000135.4(FANCA):c.1425G>A (p.Thr475=)
|
rs1330646289
|
0.00001
|
|
NM_000135.4(FANCA):c.1440C>T (p.Leu480=)
|
rs1401053307
|
0.00001
|
|
NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln)
|
rs377637236
|
0.00001
|
|
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)
|
rs748907151
|
0.00001
|
|
NM_000135.4(FANCA):c.1470+16C>T
|
rs929828617
|
0.00001
|
|
NM_000135.4(FANCA):c.1471-16T>C
|
rs1450990297
|
0.00001
|
|
NM_000135.4(FANCA):c.1471-3C>G
|
rs1291307989
|
0.00001
|
|
NM_000135.4(FANCA):c.1471-8A>G
|
rs374717514
|
0.00001
|
|
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe)
|
rs1060501886
|
0.00001
|
|
NM_000135.4(FANCA):c.1485C>T (p.His495=)
|
rs773084743
|
0.00001
|
|
NM_000135.4(FANCA):c.1491C>T (p.Pro497=)
|
rs979593313
|
0.00001
|
|
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser)
|
rs776371246
|
0.00001
|
|
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)
|
rs139276494
|
0.00001
|
|
NM_000135.4(FANCA):c.1512C>T (p.Arg504=)
|
rs1298473070
|
0.00001
|
|
NM_000135.4(FANCA):c.1513T>G (p.Ser505Ala)
|
rs1218121624
|
0.00001
|
|
NM_000135.4(FANCA):c.1518C>A (p.Leu506=)
|
rs781524409
|
0.00001
|
|
NM_000135.4(FANCA):c.1521C>T (p.Leu507=)
|
rs2039775150
|
0.00001
|
|
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)
|
rs754123446
|
0.00001
|
|
NM_000135.4(FANCA):c.1563C>T (p.Leu521=)
|
rs995956285
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-15G>C
|
rs748616829
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-18T>C
|
rs771520715
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-4G>A
|
rs1391630461
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-7C>A
|
rs780475585
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-9T>A
|
rs747184077
|
0.00001
|
|
NM_000135.4(FANCA):c.1587A>T (p.Gly529=)
|
rs1300063021
|
0.00001
|
|
NM_000135.4(FANCA):c.158G>C (p.Ser53Thr)
|
rs761614742
|
0.00001
|
|
NM_000135.4(FANCA):c.1590C>G (p.Leu530=)
|
rs773856680
|
0.00001
|
|
NM_000135.4(FANCA):c.160C>T (p.His54Tyr)
|
rs1383572316
|
0.00001
|
|
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn)
|
rs775853544
|
0.00001
|
|
NM_000135.4(FANCA):c.1626+13G>C
|
rs1341742486
|
0.00001
|
|
NM_000135.4(FANCA):c.1627-13G>T
|
rs372205127
|
0.00001
|
|
NM_000135.4(FANCA):c.1627-15C>T
|
rs779706968
|
0.00001
|
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
|
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
|
rs779745863
|
0.00001
|
|
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys)
|
rs1012809189
|
0.00001
|
|
NM_000135.4(FANCA):c.1667T>C (p.Met556Thr)
|
rs750091512
|
0.00001
|
|
NM_000135.4(FANCA):c.1689C>T (p.Asn563=)
|
rs773446807
|
0.00001
|
|
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
|
rs1032990637
|
0.00001
|
|
NM_000135.4(FANCA):c.1692C>T (p.Ile564=)
|
rs1176095983
|
0.00001
|
|
NM_000135.4(FANCA):c.1695A>T (p.Pro565=)
|
rs139181196
|
0.00001
|
|
NM_000135.4(FANCA):c.169C>T (p.Leu57=)
|
rs368828271
|
0.00001
|
|
NM_000135.4(FANCA):c.1701C>T (p.Thr567=)
|
rs745466726
|
0.00001
|
|
NM_000135.4(FANCA):c.1715+15C>T
|
rs755381554
|
0.00001
|
|
NM_000135.4(FANCA):c.1716-10T>G
|
rs1270971513
|
0.00001
|
|
NM_000135.4(FANCA):c.1725G>A (p.Arg575=)
|
rs551108542
|
0.00001
|
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
|
NM_000135.4(FANCA):c.1740G>A (p.Val580=)
|
rs1400163791
|
0.00001
|
|
NM_000135.4(FANCA):c.1776+10C>T
|
rs767506133
|
0.00001
|
|
NM_000135.4(FANCA):c.1776+1G>A
|
rs756140957
|
0.00001
|
|
NM_000135.4(FANCA):c.1777-10C>G
|
rs781605892
|
0.00001
|
|
NM_000135.4(FANCA):c.1777-4A>G
|
rs1422606508
|
0.00001
|
|
NM_000135.4(FANCA):c.177C>T (p.Ala59=)
|
rs1439661268
|
0.00001
|
|
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys)
|
rs765036744
|
0.00001
|
|
NM_000135.4(FANCA):c.1803G>A (p.Val601=)
|
rs757053400
|
0.00001
|
|
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)
|
rs766939940
|
0.00001
|
|
NM_000135.4(FANCA):c.1827-3C>T
|
rs772236777
|
0.00001
|
|
NM_000135.4(FANCA):c.1833T>C (p.Asp611=)
|
rs749173228
|
0.00001
|
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
|
NM_000135.4(FANCA):c.1842C>A (p.Pro614=)
|
rs769546891
|
0.00001
|
|
NM_000135.4(FANCA):c.184del (p.Glu63fs)
|
rs1260966020
|
0.00001
|
|
NM_000135.4(FANCA):c.1857C>T (p.Ser619=)
|
rs754522096
|
0.00001
|
|
NM_000135.4(FANCA):c.1860C>A (p.Thr620=)
|
rs1041601770
|
0.00001
|
|
NM_000135.4(FANCA):c.1872C>A (p.Ala624=)
|
rs571449307
|
0.00001
|
|
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr)
|
rs766422868
|
0.00001
|
|
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)
|
rs199599499
|
0.00001
|
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
|
NM_000135.4(FANCA):c.18C>T (p.Val6=)
|
rs916719756
|
0.00001
|
|
NM_000135.4(FANCA):c.1900+1G>A
|
rs1598120768
|
0.00001
|
|
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly)
|
rs151232042
|
0.00001
|
|
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu)
|
rs187300458
|
0.00001
|
|
NM_000135.4(FANCA):c.1906G>C (p.Ala636Pro)
|
rs1236146369
|
0.00001
|
|
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr)
|
rs1293899212
|
0.00001
|
|
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe)
|
rs776682683
|
0.00001
|
|
NM_000135.4(FANCA):c.1938T>C (p.Ala646=)
|
rs1429790431
|
0.00001
|
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
|
NM_000135.4(FANCA):c.2010T>C (p.Arg670=)
|
rs1335322113
|
0.00001
|
|
NM_000135.4(FANCA):c.2015-8C>T
|
rs747546976
|
0.00001
|
|
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr)
|
rs1319264119
|
0.00001
|
|
NM_000135.4(FANCA):c.2022G>A (p.Ser674=)
|
rs371997754
|
0.00001
|
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
|
NM_000135.4(FANCA):c.2066G>A (p.Gly689Asp)
|
rs769209218
|
0.00001
|
|
NM_000135.4(FANCA):c.207T>C (p.Cys69=)
|
rs941660593
|
0.00001
|
|
NM_000135.4(FANCA):c.2085C>T (p.Ser695=)
|
rs746285925
|
0.00001
|
|
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg)
|
rs55692229
|
0.00001
|
|
NM_000135.4(FANCA):c.2111T>A (p.Leu704His)
|
rs1239942003
|
0.00001
|
|
NM_000135.4(FANCA):c.2114G>A (p.Ser705Asn)
|
rs762616165
|
0.00001
|
|
NM_000135.4(FANCA):c.2115C>T (p.Ser705=)
|
rs1158246204
|
0.00001
|
|
NM_000135.4(FANCA):c.2124G>A (p.Thr708=)
|
rs201668358
|
0.00001
|
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
|
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln)
|
rs1054636249
|
0.00001
|
|
NM_000135.4(FANCA):c.2142G>A (p.Arg714=)
|
rs1387853957
|
0.00001
|
|
NM_000135.4(FANCA):c.2146C>A (p.His716Asn)
|
rs754896727
|
0.00001
|
|
NM_000135.4(FANCA):c.2147A>G (p.His716Arg)
|
rs751474452
|
0.00001
|
|
NM_000135.4(FANCA):c.2149A>G (p.Met717Val)
|
rs766173155
|
0.00001
|
|
NM_000135.4(FANCA):c.2151+13G>A
|
rs554897273
|
0.00001
|
|
NM_000135.4(FANCA):c.2152-10G>C
|
rs557705265
|
0.00001
|
|
NM_000135.4(FANCA):c.2152-18A>G
|
rs760146323
|
0.00001
|
|
NM_000135.4(FANCA):c.2152-7T>C
|
rs763531092
|
0.00001
|
|
NM_000135.4(FANCA):c.2167C>T (p.Leu723=)
|
rs2039290580
|
0.00001
|
|
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr)
|
rs1425954290
|
0.00001
|
|
NM_000135.4(FANCA):c.2182C>G (p.Gln728Glu)
|
rs780192381
|
0.00001
|
|
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser)
|
rs1440861257
|
0.00001
|
|
NM_000135.4(FANCA):c.2190G>A (p.Leu730=)
|
rs745845683
|
0.00001
|
|
NM_000135.4(FANCA):c.2199C>T (p.Ala733=)
|
rs757095786
|
0.00001
|
|
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)
|
rs886052485
|
0.00001
|
|
NM_000135.4(FANCA):c.220C>G (p.Leu74Val)
|
rs770294560
|
0.00001
|
|
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val)
|
rs199938598
|
0.00001
|
|
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
|
rs536086288
|
0.00001
|
|
NM_000135.4(FANCA):c.2222+10C>T
|
rs770711287
|
0.00001
|
|
NM_000135.4(FANCA):c.2222+14del
|
rs1423390984
|
0.00001
|
|
NM_000135.4(FANCA):c.2222+17C>T
|
rs755657610
|
0.00001
|
|
NM_000135.4(FANCA):c.2222+1G>A
|
rs775388912
|
0.00001
|
|
NM_000135.4(FANCA):c.2223-15C>T
|
rs775834091
|
0.00001
|
|
NM_000135.4(FANCA):c.2226G>A (p.Gln742=)
|
rs1336946372
|
0.00001
|
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
|
NM_000135.4(FANCA):c.2239G>T (p.Ala747Ser)
|
rs931143821
|
0.00001
|
|
NM_000135.4(FANCA):c.2247C>T (p.Phe749=)
|
rs772842754
|
0.00001
|
|
NM_000135.4(FANCA):c.2295C>G (p.Leu765=)
|
rs1193622990
|
0.00001
|
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
|
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val)
|
rs917707717
|
0.00001
|
|
NM_000135.4(FANCA):c.2316+19G>A
|
rs1421219472
|
0.00001
|
|
NM_000135.4(FANCA):c.2316+7C>G
|
rs1366206489
|
0.00001
|
|
NM_000135.4(FANCA):c.2317-6T>C
|
rs760617819
|
0.00001
|
|
NM_000135.4(FANCA):c.2322G>A (p.Pro774=)
|
rs931091451
|
0.00001
|
|
NM_000135.4(FANCA):c.2326C>T (p.Leu776=)
|
rs527300192
|
0.00001
|
|
NM_000135.4(FANCA):c.2333C>T (p.Ala778Val)
|
rs777163986
|
0.00001
|
|
NM_000135.4(FANCA):c.2336C>T (p.Pro779Leu)
|
rs1400044983
|
0.00001
|
|
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
|
rs765883419
|
0.00001
|
|
NM_000135.4(FANCA):c.2407G>A (p.Val803Met)
|
rs769083458
|
0.00001
|
|
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu)
|
rs1352100383
|
0.00001
|
|
NM_000135.4(FANCA):c.2419G>A (p.Ala807Thr)
|
rs2039263876
|
0.00001
|
|
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)
|
rs144570744
|
0.00001
|
|
NM_000135.4(FANCA):c.2435T>G (p.Leu812Arg)
|
rs749326662
|
0.00001
|
|
NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser)
|
rs2039263207
|
0.00001
|
|
NM_000135.4(FANCA):c.2448G>A (p.Ala816=)
|
rs752705496
|
0.00001
|
|
NM_000135.4(FANCA):c.2450T>A (p.Leu817His)
|
rs1307805145
|
0.00001
|
|
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val)
|
rs976586387
|
0.00001
|
|
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn)
|
rs1339411422
|
0.00001
|
|
NM_000135.4(FANCA):c.2467A>T (p.Thr823Ser)
|
rs1292223325
|
0.00001
|
|
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys)
|
rs751222471
|
0.00001
|
|
NM_000135.4(FANCA):c.2481G>A (p.Arg827=)
|
rs749895479
|
0.00001
|
|
NM_000135.4(FANCA):c.2487C>T (p.Ser829=)
|
rs776013293
|
0.00001
|
|
NM_000135.4(FANCA):c.2502G>A (p.Leu834=)
|
rs770993950
|
0.00001
|
|
NM_000135.4(FANCA):c.2504+10T>G
|
rs770043372
|
0.00001
|
|
NM_000135.4(FANCA):c.2517A>G (p.Ala839=)
|
rs1325322271
|
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.2570G>A (p.Cys857Tyr)
|
rs886052484
|
0.00001
|
|
NM_000135.4(FANCA):c.2573G>C (p.Ser858Thr)
|
rs1291169859
|
0.00001
|
|
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)
|
rs980582362
|
0.00001
|
|
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser)
|
rs1331781220
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+10C>G
|
rs745601855
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+15T>C
|
rs373423046
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+20A>C
|
rs557565599
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-10T>C
|
rs899604473
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-20C>T
|
rs752731568
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-8T>C
|
rs772897825
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-9C>G
|
rs1406509004
|
0.00001
|
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
|
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)
|
rs758619078
|
0.00001
|
|
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val)
|
rs779617838
|
0.00001
|
|
NM_000135.4(FANCA):c.2613C>T (p.Leu871=)
|
rs532032511
|
0.00001
|
|
NM_000135.4(FANCA):c.2628C>T (p.Phe876=)
|
rs368987148
|
0.00001
|
|
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)
|
rs762804216
|
0.00001
|
|
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys)
|
rs776492214
|
0.00001
|
|
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys)
|
rs587778316
|
0.00001
|
|
NM_000135.4(FANCA):c.2696C>T (p.Pro899Leu)
|
rs1424540726
|
0.00001
|
|
NM_000135.4(FANCA):c.2700T>G (p.Ser900=)
|
rs755783870
|
0.00001
|
|
NM_000135.4(FANCA):c.2704G>C (p.Asp902His)
|
rs1009521389
|
0.00001
|
|
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr)
|
rs763769211
|
0.00001
|
|
NM_000135.4(FANCA):c.2730C>T (p.Leu910=)
|
rs749774911
|
0.00001
|
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
|
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
|
rs748454613
|
0.00001
|
|
NM_000135.4(FANCA):c.2748C>T (p.Phe916=)
|
rs755154360
|
0.00001
|
|
NM_000135.4(FANCA):c.2750G>A (p.Arg917Gln)
|
rs747220449
|
0.00001
|
|
NM_000135.4(FANCA):c.2778+14C>T
|
rs767053728
|
0.00001
|
|
NM_000135.4(FANCA):c.2779-9C>G
|
rs764825402
|
0.00001
|
|
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
|
rs779480428
|
0.00001
|
|
NM_000135.4(FANCA):c.2800C>A (p.His934Asn)
|
rs774871582
|
0.00001
|
|
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met)
|
rs769970040
|
0.00001
|
|
NM_000135.4(FANCA):c.283+18T>A
|
rs1266280397
|
0.00001
|
|
NM_000135.4(FANCA):c.283+9T>C
|
rs779593295
|
0.00001
|
|
NM_000135.4(FANCA):c.284-9G>A
|
rs367672895
|
0.00001
|
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
|
NM_000135.4(FANCA):c.2852+13A>T
|
rs189890126
|
0.00001
|
|
NM_000135.4(FANCA):c.2852+8T>C
|
rs763249422
|
0.00001
|
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
|
NM_000135.4(FANCA):c.2873C>T (p.Ala958Val)
|
rs1374262828
|
0.00001
|
|
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)
|
rs199916178
|
0.00001
|
|
NM_000135.4(FANCA):c.2879A>G (p.His960Arg)
|
rs1460469198
|
0.00001
|
|
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)
|
rs779162871
|
0.00001
|
|
NM_000135.4(FANCA):c.2904G>T (p.Ser968=)
|
rs568354015
|
0.00001
|
|
NM_000135.4(FANCA):c.2922C>T (p.Asp974=)
|
rs756241886
|
0.00001
|
|
NM_000135.4(FANCA):c.2937T>C (p.Ala979=)
|
rs762638564
|
0.00001
|
|
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)
|
rs773070418
|
0.00001
|
|
NM_000135.4(FANCA):c.2940G>A (p.Ala980=)
|
rs769418220
|
0.00001
|
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
|
NM_000135.4(FANCA):c.2947A>T (p.Ile983Phe)
|
rs375312389
|
0.00001
|
|
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe)
|
rs751380220
|
0.00001
|
|
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr)
|
rs752735858
|
0.00001
|
|
NM_000135.4(FANCA):c.2974C>T (p.His992Tyr)
|
rs967438026
|
0.00001
|
|
NM_000135.4(FANCA):c.2975A>T (p.His992Leu)
|
rs184007986
|
0.00001
|
|
NM_000135.4(FANCA):c.2981+12A>G
|
rs1416505835
|
0.00001
|
|
NM_000135.4(FANCA):c.2982-17T>C
|
rs763475096
|
0.00001
|
|
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=)
|
rs758384536
|
0.00001
|
|
NM_000135.4(FANCA):c.3003A>C (p.Ser1001=)
|
rs2038619241
|
0.00001
|
|
NM_000135.4(FANCA):c.3047A>G (p.Asp1016Gly)
|
rs1303235237
|
0.00001
|
|
NM_000135.4(FANCA):c.3065A>G (p.Gln1022Arg)
|
rs933911279
|
0.00001
|
|
NM_000135.4(FANCA):c.3067-20A>C
|
rs1213920786
|
0.00001
|
|
NM_000135.4(FANCA):c.3077C>T (p.Ala1026Val)
|
rs545999415
|
0.00001
|
|
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)
|
rs35402142
|
0.00001
|
|
NM_000135.4(FANCA):c.3108G>C (p.Val1036=)
|
rs759859528
|
0.00001
|
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
|
NM_000135.4(FANCA):c.3125C>T (p.Pro1042Leu)
|
rs1173497525
|
0.00001
|
|
NM_000135.4(FANCA):c.312G>A (p.Arg104=)
|
rs937043976
|
0.00001
|
|
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr)
|
rs747913731
|
0.00001
|
|
NM_000135.4(FANCA):c.3153T>C (p.Ile1051=)
|
rs1401723593
|
0.00001
|
|
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=)
|
rs778275451
|
0.00001
|
|
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val)
|
rs370873098
|
0.00001
|
|
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)
|
rs764893807
|
0.00001
|
|
NM_000135.4(FANCA):c.3186G>A (p.Gly1062=)
|
rs2038517320
|
0.00001
|
|
NM_000135.4(FANCA):c.3189G>C (p.Trp1063Cys)
|
rs776391208
|
0.00001
|
|
NM_000135.4(FANCA):c.318G>T (p.Gly106=)
|
rs1288618851
|
0.00001
|
|
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=)
|
rs768502785
|
0.00001
|
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
|
NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg)
|
rs1013239803
|
0.00001
|
|
NM_000135.4(FANCA):c.3223C>T (p.Leu1075=)
|
rs751987951
|
0.00001
|
|
NM_000135.4(FANCA):c.3231G>A (p.Met1077Ile)
|
rs2038515231
|
0.00001
|
|
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp)
|
rs760392231
|
0.00001
|
|
NM_000135.4(FANCA):c.3239+18C>G
|
rs781742623
|
0.00001
|
|
NM_000135.4(FANCA):c.3239+8C>G
|
rs2038514547
|
0.00001
|
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
|
NM_000135.4(FANCA):c.324C>T (p.Pro108=)
|
rs775822054
|
0.00001
|
|
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys)
|
rs764206631
|
0.00001
|
|
NM_000135.4(FANCA):c.3268C>T (p.Leu1090Phe)
|
rs1567603054
|
0.00001
|
|
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)
|
rs762719233
|
0.00001
|
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
|
NM_000135.4(FANCA):c.3300C>T (p.Pro1100=)
|
rs1372873475
|
0.00001
|
|
NM_000135.4(FANCA):c.3321G>A (p.Gln1107=)
|
rs1276452090
|
0.00001
|
|
NM_000135.4(FANCA):c.3349-14G>A
|
rs1248372954
|
0.00001
|
|
NM_000135.4(FANCA):c.3349-17C>T
|
rs962847137
|
0.00001
|
|
NM_000135.4(FANCA):c.3349-5T>C
|
rs1055846604
|
0.00001
|
|
NM_000135.4(FANCA):c.3349-9C>G
|
rs1463228706
|
0.00001
|
|
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=)
|
rs878853664
|
0.00001
|
|
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
|
rs771815968
|
0.00001
|
|
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg)
|
rs1437529209
|
0.00001
|
|
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr)
|
rs1162813981
|
0.00001
|
|
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)
|
rs946344673
|
0.00001
|
|
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)
|
rs1439817346
|
0.00001
|
|
NM_000135.4(FANCA):c.3389T>C (p.Ile1130Thr)
|
rs2038408218
|
0.00001
|
|
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)
|
rs149903404
|
0.00001
|
|
NM_000135.4(FANCA):c.33G>C (p.Ser11=)
|
rs1159682058
|
0.00001
|
|
NM_000135.4(FANCA):c.3409-16G>C
|
rs1340274026
|
0.00001
|
|
NM_000135.4(FANCA):c.3409-4G>T
|
rs2038401980
|
0.00001
|
|
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)
|
rs769824282
|
0.00001
|
|
NM_000135.4(FANCA):c.3447C>T (p.Ser1149=)
|
rs2038400334
|
0.00001
|
|
NM_000135.4(FANCA):c.3448C>T (p.Leu1150=)
|
rs369073173
|
0.00001
|
|
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=)
|
rs1266179547
|
0.00001
|
|
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=)
|
rs768306527
|
0.00001
|
|
NM_000135.4(FANCA):c.3513+13T>C
|
rs560352340
|
0.00001
|
|
NM_000135.4(FANCA):c.3513+1G>A
|
rs1188082371
|
0.00001
|
|
NM_000135.4(FANCA):c.3513+7C>G
|
rs2038397980
|
0.00001
|
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
|
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)
|
rs372706571
|
0.00001
|
|
NM_000135.4(FANCA):c.353C>T (p.Ala118Val)
|
rs1201642328
|
0.00001
|
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
|
NM_000135.4(FANCA):c.3558G>A (p.Arg1186=)
|
rs1248260786
|
0.00001
|
|
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=)
|
rs781679210
|
0.00001
|
|
NM_000135.4(FANCA):c.3594G>A (p.Gln1198=)
|
rs935013716
|
0.00001
|
|
NM_000135.4(FANCA):c.3612G>A (p.Arg1204=)
|
rs762402959
|
0.00001
|
|
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn)
|
rs1351484293
|
0.00001
|
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
|
NM_000135.4(FANCA):c.3627-16G>A
|
rs369154534
|
0.00001
|
|
NM_000135.4(FANCA):c.3627-4C>T
|
rs2062172483
|
0.00001
|
|
NM_000135.4(FANCA):c.3627-5C>G
|
rs1417894512
|
0.00001
|
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
|
NM_000135.4(FANCA):c.3646G>A (p.Ala1216Thr)
|
rs1262639465
|
0.00001
|
|
NM_000135.4(FANCA):c.3651C>T (p.Ser1217=)
|
rs1351099497
|
0.00001
|
|
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser)
|
rs773150877
|
0.00001
|
|
NM_000135.4(FANCA):c.3660C>T (p.Pro1220=)
|
rs751703958
|
0.00001
|
|
NM_000135.4(FANCA):c.3690G>A (p.Leu1230=)
|
rs1369764790
|
0.00001
|
|
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)
|
rs751899346
|
0.00001
|
|
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)
|
rs769919783
|
0.00001
|
|
NM_000135.4(FANCA):c.3720A>G (p.Glu1240=)
|
rs2062170339
|
0.00001
|
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
|
NM_000135.4(FANCA):c.3736C>T (p.Leu1246=)
|
rs2062169927
|
0.00001
|
|
NM_000135.4(FANCA):c.3738A>G (p.Leu1246=)
|
rs2062169862
|
0.00001
|
|
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu)
|
rs777313447
|
0.00001
|
|
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys)
|
rs766875357
|
0.00001
|
|
NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln)
|
rs766875357
|
0.00001
|
|
NM_000135.4(FANCA):c.3765+16C>A
|
rs745639466
|
0.00001
|
|
NM_000135.4(FANCA):c.3766-2A>G
|
rs1219402916
|
0.00001
|
|
NM_000135.4(FANCA):c.3768A>G (p.Leu1256=)
|
rs747616573
|
0.00001
|
|
NM_000135.4(FANCA):c.3802C>T (p.Leu1268=)
|
rs143982249
|
0.00001
|
|
NM_000135.4(FANCA):c.3804G>A (p.Leu1268=)
|
rs1449170388
|
0.00001
|
|
NM_000135.4(FANCA):c.3805C>T (p.Leu1269=)
|
rs757641646
|
0.00001
|
|
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu)
|
rs752800577
|
0.00001
|
|
NM_000135.4(FANCA):c.3813dup (p.His1272fs)
|
rs1555534521
|
0.00001
|
|
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
|
rs759514393
|
0.00001
|
|
NM_000135.4(FANCA):c.3822C>T (p.Thr1274=)
|
rs1382340096
|
0.00001
|
|
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)
|
rs914045767
|
0.00001
|
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
|
NM_000135.4(FANCA):c.3849G>T (p.Lys1283Asn)
|
rs749869884
|
0.00001
|
|
NM_000135.4(FANCA):c.3857A>C (p.His1286Pro)
|
rs138620653
|
0.00001
|
|
NM_000135.4(FANCA):c.3858C>T (p.His1286=)
|
rs761705192
|
0.00001
|
|
NM_000135.4(FANCA):c.3861T>A (p.Val1287=)
|
rs1227504086
|
0.00001
|
|
NM_000135.4(FANCA):c.3870A>G (p.Ala1290=)
|
rs780156842
|
0.00001
|
|
NM_000135.4(FANCA):c.387G>A (p.Ala129=)
|
rs1181727153
|
0.00001
|
|
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr)
|
rs1261384324
|
0.00001
|
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
|
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp)
|
rs200215131
|
0.00001
|
|
NM_000135.4(FANCA):c.3951G>C (p.Arg1317=)
|
rs1439529670
|
0.00001
|
|
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg)
|
rs1439125894
|
0.00001
|
|
NM_000135.4(FANCA):c.3954C>G (p.Leu1318=)
|
rs187297609
|
0.00001
|
|
NM_000135.4(FANCA):c.3960C>T (p.Leu1320=)
|
rs541385700
|
0.00001
|
|
NM_000135.4(FANCA):c.3969C>T (p.Ala1323=)
|
rs1337959697
|
0.00001
|
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
|
NM_000135.4(FANCA):c.3972G>C (p.Pro1324=)
|
rs1446370085
|
0.00001
|
|
NM_000135.4(FANCA):c.39G>C (p.Gln13His)
|
rs1486155993
|
0.00001
|
|
NM_000135.4(FANCA):c.4011-3_4011-2del
|
rs911481295
|
0.00001
|
|
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe)
|
rs112734327
|
0.00001
|
|
NM_000135.4(FANCA):c.4029T>C (p.His1343=)
|
rs745577614
|
0.00001
|
|
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln)
|
rs761934804
|
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.4098G>C (p.Gln1366His)
|
rs1041491550
|
0.00001
|
|
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val)
|
rs2062056417
|
0.00001
|
|
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)
|
rs1060501882
|
0.00001
|
|
NM_000135.4(FANCA):c.414T>G (p.Thr138=)
|
rs574311470
|
0.00001
|
|
NM_000135.4(FANCA):c.4159A>G (p.Lys1387Glu)
|
rs1436768029
|
0.00001
|
|
NM_000135.4(FANCA):c.4167+2C>T
|
rs374765708
|
0.00001
|
|
NM_000135.4(FANCA):c.4183C>T (p.Leu1395=)
|
rs780156946
|
0.00001
|
|
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val)
|
rs1376923890
|
0.00001
|
|
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)
|
rs1441175300
|
0.00001
|
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
|
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=)
|
rs1379441535
|
0.00001
|
|
NM_000135.4(FANCA):c.4251C>T (p.His1417=)
|
rs752333498
|
0.00001
|
|
NM_000135.4(FANCA):c.4254G>C (p.Val1418=)
|
rs200284171
|
0.00001
|
|
NM_000135.4(FANCA):c.4264C>T (p.Leu1422=)
|
rs753660236
|
0.00001
|
|
NM_000135.4(FANCA):c.427-6T>C
|
rs1295402252
|
0.00001
|
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
|
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn)
|
rs747310276
|
0.00001
|
|
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=)
|
rs371228419
|
0.00001
|
|
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val)
|
rs2062029094
|
0.00001
|
|
NM_000135.4(FANCA):c.4338T>C (p.Ala1446=)
|
rs746256466
|
0.00001
|
|
NM_000135.4(FANCA):c.441C>T (p.Ser147=)
|
rs772133367
|
0.00001
|
|
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly)
|
rs770716257
|
0.00001
|
|
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu)
|
rs908258968
|
0.00001
|
|
NM_000135.4(FANCA):c.483C>T (p.Phe161=)
|
rs769389376
|
0.00001
|
|
NM_000135.4(FANCA):c.486C>T (p.Ser162=)
|
rs2040845636
|
0.00001
|
|
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys)
|
rs747651383
|
0.00001
|
|
NM_000135.4(FANCA):c.488G>A (p.Arg163His)
|
rs375648811
|
0.00001
|
|
NM_000135.4(FANCA):c.499T>C (p.Cys167Arg)
|
rs1449541412
|
0.00001
|
|
NM_000135.4(FANCA):c.522+1G>T
|
rs1365019056
|
0.00001
|
|
NM_000135.4(FANCA):c.522+8T>A
|
rs764367299
|
0.00001
|
|
NM_000135.4(FANCA):c.523-20T>C
|
rs773036631
|
0.00001
|
|
NM_000135.4(FANCA):c.546G>A (p.Val182=)
|
rs766417293
|
0.00001
|
|
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys)
|
rs758528624
|
0.00001
|
|
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp)
|
rs1300733063
|
0.00001
|
|
NM_000135.4(FANCA):c.561A>T (p.Val187=)
|
rs1050053060
|
0.00001
|
|
NM_000135.4(FANCA):c.563A>G (p.Gln188Arg)
|
rs763736133
|
0.00001
|
|
NM_000135.4(FANCA):c.571G>T (p.Val191Leu)
|
rs1429483489
|
0.00001
|
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
|
NM_000135.4(FANCA):c.582A>G (p.Gln194=)
|
rs748517164
|
0.00001
|
|
NM_000135.4(FANCA):c.589C>T (p.Leu197=)
|
rs755202969
|
0.00001
|
|
NM_000135.4(FANCA):c.591G>A (p.Leu197=)
|
rs1567650751
|
0.00001
|
|
NM_000135.4(FANCA):c.596+5C>T
|
rs758345423
|
0.00001
|
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
|
NM_000135.4(FANCA):c.603C>T (p.Pro201=)
|
rs542064386
|
0.00001
|
|
NM_000135.4(FANCA):c.606C>T (p.Asp202=)
|
rs1431969235
|
0.00001
|
|
NM_000135.4(FANCA):c.60G>A (p.Arg20=)
|
rs1321607523
|
0.00001
|
|
NM_000135.4(FANCA):c.612T>C (p.His204=)
|
rs1226994862
|
0.00001
|
|
NM_000135.4(FANCA):c.630C>T (p.Leu210=)
|
rs781089592
|
0.00001
|
|
NM_000135.4(FANCA):c.642G>C (p.Leu214=)
|
rs751215437
|
0.00001
|
|
NM_000135.4(FANCA):c.660G>C (p.Gln220His)
|
rs1555571174
|
0.00001
|
|
NM_000135.4(FANCA):c.675C>T (p.Cys225=)
|
rs367717307
|
0.00001
|
|
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)
|
rs1598177148
|
0.00001
|
|
NM_000135.4(FANCA):c.684T>C (p.Ala228=)
|
rs1354391809
|
0.00001
|
|
NM_000135.4(FANCA):c.687C>T (p.Asp229=)
|
rs1598177104
|
0.00001
|
|
NM_000135.4(FANCA):c.693C>T (p.Ala231=)
|
rs779839381
|
0.00001
|
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
|
NM_000135.4(FANCA):c.69C>T (p.Ala23=)
|
rs746429608
|
0.00001
|
|
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
|
rs1042676101
|
0.00001
|
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
|
NM_000135.4(FANCA):c.710-8T>C
|
rs181310336
|
0.00001
|
|
NM_000135.4(FANCA):c.769G>A (p.Val257Met)
|
rs777311234
|
0.00001
|
|
NM_000135.4(FANCA):c.79+18G>C
|
rs1214190329
|
0.00001
|
|
NM_000135.4(FANCA):c.79+1G>A
|
rs1483028018
|
0.00001
|
|
NM_000135.4(FANCA):c.79+8G>T
|
rs1210341859
|
0.00001
|
|
NM_000135.4(FANCA):c.792+15C>G
|
rs199866285
|
0.00001
|
|
NM_000135.4(FANCA):c.793-11T>C
|
rs1030329914
|
0.00001
|
|
NM_000135.4(FANCA):c.793-12C>G
|
rs746312984
|
0.00001
|
|
NM_000135.4(FANCA):c.793-15A>G
|
rs772612378
|
0.00001
|
|
NM_000135.4(FANCA):c.793-3C>G
|
rs749688050
|
0.00001
|
|
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)
|
rs752799441
|
0.00001
|
|
NM_000135.4(FANCA):c.7G>C (p.Asp3His)
|
rs1246636933
|
0.00001
|
|
NM_000135.4(FANCA):c.80-4G>T
|
rs747881254
|
0.00001
|
|
NM_000135.4(FANCA):c.80-8C>T
|
rs749080227
|
0.00001
|
|
NM_000135.4(FANCA):c.807A>C (p.Val269=)
|
rs766352671
|
0.00001
|
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
|
NM_000135.4(FANCA):c.827-16C>G
|
rs758496205
|
0.00001
|
|
NM_000135.4(FANCA):c.827-17C>G
|
rs1483669797
|
0.00001
|
|
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr)
|
rs1010833101
|
0.00001
|
|
NM_000135.4(FANCA):c.839C>T (p.Ala280Val)
|
rs767092317
|
0.00001
|
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
|
NM_000135.4(FANCA):c.876C>G (p.His292Gln)
|
rs527897404
|
0.00001
|
|
NM_000135.4(FANCA):c.882C>G (p.Ile294Met)
|
rs754520622
|
0.00001
|
|
NM_000135.4(FANCA):c.891C>T (p.Cys297=)
|
rs1210939756
|
0.00001
|
|
NM_000135.4(FANCA):c.893+9C>T
|
rs1313828842
|
0.00001
|
|
NM_000135.4(FANCA):c.894-10G>A
|
rs751912856
|
0.00001
|
|
NM_000135.4(FANCA):c.894-20T>C
|
rs1475016373
|
0.00001
|
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
|
NM_000135.4(FANCA):c.894-9C>T
|
rs376093765
|
0.00001
|
|
NM_000135.4(FANCA):c.8A>C (p.Asp3Ala)
|
rs1183087111
|
0.00001
|
|
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn)
|
rs1060501877
|
0.00001
|
|
NM_000135.4(FANCA):c.90C>G (p.Val30=)
|
rs532713581
|
0.00001
|
|
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala)
|
rs745451374
|
0.00001
|
|
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)
|
rs774054025
|
0.00001
|
|
NM_000135.4(FANCA):c.917C>T (p.Thr306Met)
|
rs370852532
|
0.00001
|
|
NM_000135.4(FANCA):c.927T>C (p.Ser309=)
|
rs780226614
|
0.00001
|
|
NM_000135.4(FANCA):c.92A>G (p.Lys31Arg)
|
rs2041101472
|
0.00001
|
|
NM_000135.4(FANCA):c.969C>G (p.Thr323=)
|
rs747408661
|
0.00001
|
|
NM_000135.4(FANCA):c.96G>A (p.Arg32=)
|
rs1381349863
|
0.00001
|
|
NM_000135.4(FANCA):c.982C>G (p.Leu328Val)
|
rs779244841
|
0.00001
|
|
NM_000135.4(FANCA):c.990C>T (p.His330=)
|
rs1413024545
|
0.00001
|
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
|
NM_000136.3(FANCC):c.-12G>A
|
rs779454514
|
0.00001
|
|
NM_000136.3(FANCC):c.-13C>T
|
rs1057521107
|
0.00001
|
|
NM_000136.3(FANCC):c.-2A>G
|
rs773045474
|
0.00001
|
|
NM_000136.3(FANCC):c.-48G>A
|
rs1283535718
|
0.00001
|
|
NM_000136.3(FANCC):c.-61C>G
|
rs1048489323
|
0.00001
|
|
NM_000136.3(FANCC):c.-64G>C
|
rs1343004289
|
0.00001
|
|
NM_000136.3(FANCC):c.-71G>A
|
rs1296685064
|
0.00001
|
|
NM_000136.3(FANCC):c.-76T>G
|
rs1304078154
|
0.00001
|
|
NM_000136.3(FANCC):c.-79+1G>A
|
rs1228886763
|
0.00001
|
|
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln)
|
rs377468919
|
0.00001
|
|
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys)
|
rs746828156
|
0.00001
|
|
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala)
|
rs1228873579
|
0.00001
|
|
NM_000136.3(FANCC):c.1035T>G (p.Ser345=)
|
rs1057522277
|
0.00001
|
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
|
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser)
|
rs143212932
|
0.00001
|
|
NM_000136.3(FANCC):c.1063G>C (p.Asp355His)
|
rs587778325
|
0.00001
|
|
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
|
rs759900071
|
0.00001
|
|
NM_000136.3(FANCC):c.1072+14G>C
|
rs763466918
|
0.00001
|
|
NM_000136.3(FANCC):c.1073-8A>G
|
rs1256220248
|
0.00001
|
|
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu)
|
rs730881721
|
0.00001
|
|
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln)
|
rs761336987
|
0.00001
|
|
NM_000136.3(FANCC):c.108_109dup (p.His37fs)
|
rs1057517131
|
0.00001
|
|
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg)
|
rs771694972
|
0.00001
|
|
NM_000136.3(FANCC):c.109C>G (p.His37Asp)
|
rs864622230
|
0.00001
|
|
NM_000136.3(FANCC):c.112G>A (p.Val38Met)
|
rs778951584
|
0.00001
|
|
NM_000136.3(FANCC):c.1146G>C (p.Gln382His)
|
rs770809637
|
0.00001
|
|
NM_000136.3(FANCC):c.1150C>T (p.His384Tyr)
|
rs1383057170
|
0.00001
|
|
NM_000136.3(FANCC):c.1151A>G (p.His384Arg)
|
rs577302082
|
0.00001
|
|
NM_000136.3(FANCC):c.1152T>C (p.His384=)
|
rs748127093
|
0.00001
|
|
NM_000136.3(FANCC):c.1155-16T>G
|
rs1202931082
|
0.00001
|
|
NM_000136.3(FANCC):c.1179C>T (p.Ser393=)
|
rs1328914149
|
0.00001
|
|
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg)
|
rs730881722
|
0.00001
|
|
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser)
|
rs1284061457
|
0.00001
|
|
NM_000136.3(FANCC):c.1275C>G (p.Leu425=)
|
rs767126985
|
0.00001
|
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
|
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)
|
rs1588047887
|
0.00001
|
|
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys)
|
rs369684405
|
0.00001
|
|
NM_000136.3(FANCC):c.1298G>A (p.Arg433His)
|
rs768676102
|
0.00001
|
|
NM_000136.3(FANCC):c.1305G>C (p.Gly435=)
|
rs765092951
|
0.00001
|
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
|
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)
|
rs912537449
|
0.00001
|
|
NM_000136.3(FANCC):c.1327A>G (p.Met443Val)
|
rs150941781
|
0.00001
|
|
NM_000136.3(FANCC):c.1329+1G>T
|
rs1554829441
|
0.00001
|
|
NM_000136.3(FANCC):c.1330-4C>G
|
rs762141353
|
0.00001
|
|
NM_000136.3(FANCC):c.1330-9A>G
|
rs1264460608
|
0.00001
|
|
NM_000136.3(FANCC):c.1344C>T (p.Ala448=)
|
rs760983825
|
0.00001
|
|
NM_000136.3(FANCC):c.1350G>A (p.Leu450=)
|
rs892063660
|
0.00001
|
|
NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser)
|
rs141805918
|
0.00001
|
|
NM_000136.3(FANCC):c.1355A>G (p.His452Arg)
|
rs1224625808
|
0.00001
|
|
NM_000136.3(FANCC):c.1358T>A (p.Leu453His)
|
rs1490551416
|
0.00001
|
|
NM_000136.3(FANCC):c.1365A>C (p.Ala455=)
|
rs1463739066
|
0.00001
|
|
NM_000136.3(FANCC):c.1366A>G (p.Met456Val)
|
rs1554828443
|
0.00001
|
|
NM_000136.3(FANCC):c.1379G>A (p.Ser460Asn)
|
rs748938789
|
0.00001
|
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
|
NM_000136.3(FANCC):c.1437C>T (p.Leu479=)
|
rs765396609
|
0.00001
|
|
NM_000136.3(FANCC):c.143T>C (p.Met48Thr)
|
rs1353498563
|
0.00001
|
|
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser)
|
rs1415434775
|
0.00001
|
|
NM_000136.3(FANCC):c.1488C>G (p.Leu496=)
|
rs1057520505
|
0.00001
|
|
NM_000136.3(FANCC):c.1508C>T (p.Thr503Met)
|
rs779982610
|
0.00001
|
|
NM_000136.3(FANCC):c.1512C>T (p.Ile504=)
|
rs746940880
|
0.00001
|
|
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr)
|
rs780179187
|
0.00001
|
|
NM_000136.3(FANCC):c.1530C>T (p.Thr510=)
|
rs372199352
|
0.00001
|
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
|
NM_000136.3(FANCC):c.1534-10C>T
|
rs1356632872
|
0.00001
|
|
NM_000136.3(FANCC):c.1534-18C>T
|
rs1289718209
|
0.00001
|
|
NM_000136.3(FANCC):c.1534-20C>T
|
rs1564635514
|
0.00001
|
|
NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala)
|
rs781445050
|
0.00001
|
|
NM_000136.3(FANCC):c.1567A>G (p.Ile523Val)
|
rs1235875394
|
0.00001
|
|
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr)
|
rs1554827151
|
0.00001
|
|
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser)
|
rs755289392
|
0.00001
|
|
NM_000136.3(FANCC):c.1587C>T (p.Thr529=)
|
rs1015147630
|
0.00001
|
|
NM_000136.3(FANCC):c.1588T>C (p.Leu530=)
|
rs988780618
|
0.00001
|
|
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=)
|
rs758842354
|
0.00001
|
|
NM_000136.3(FANCC):c.1594A>C (p.Arg532=)
|
rs764649916
|
0.00001
|
|
NM_000136.3(FANCC):c.15A>G (p.Ser5=)
|
rs778408360
|
0.00001
|
|
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys)
|
rs1564794487
|
0.00001
|
|
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu)
|
rs1554827120
|
0.00001
|
|
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)
|
rs867319477
|
0.00001
|
|
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu)
|
rs1064793496
|
0.00001
|
|
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)
|
rs571668582
|
0.00001
|
|
NM_000136.3(FANCC):c.165+10G>A
|
rs767721720
|
0.00001
|
|
NM_000136.3(FANCC):c.165+12A>G
|
rs200547296
|
0.00001
|
|
NM_000136.3(FANCC):c.166-2A>G
|
rs587777945
|
0.00001
|
|
NM_000136.3(FANCC):c.166-4_166-1dup
|
rs746016938
|
0.00001
|
|
NM_000136.3(FANCC):c.166-5C>T
|
rs753820400
|
0.00001
|
|
NM_000136.3(FANCC):c.166-9C>G
|
rs372507085
|
0.00001
|
|
NM_000136.3(FANCC):c.1660C>T (p.Leu554=)
|
rs769743634
|
0.00001
|
|
NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln)
|
rs369636116
|
0.00001
|
|
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile)
|
rs149566909
|
0.00001
|
|
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln)
|
rs150174412
|
0.00001
|
|
NM_000136.3(FANCC):c.216A>G (p.Ala72=)
|
rs1057523069
|
0.00001
|
|
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr)
|
rs4647419
|
0.00001
|
|
NM_000136.3(FANCC):c.250+18G>A
|
rs751544011
|
0.00001
|
|
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln)
|
rs1060502519
|
0.00001
|
|
NM_000136.3(FANCC):c.271A>G (p.Ile91Val)
|
rs771619614
|
0.00001
|
|
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr)
|
rs774029807
|
0.00001
|
|
NM_000136.3(FANCC):c.290T>C (p.Leu97Pro)
|
rs1223097554
|
0.00001
|
|
NM_000136.3(FANCC):c.291A>G (p.Leu97=)
|
rs1216348860
|
0.00001
|
|
NM_000136.3(FANCC):c.321A>G (p.Gln107=)
|
rs1441770870
|
0.00001
|
|
NM_000136.3(FANCC):c.327A>G (p.Lys109=)
|
rs1399574459
|
0.00001
|
|
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro)
|
rs777731560
|
0.00001
|
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
|
NM_000136.3(FANCC):c.345+1G>A
|
rs1175257797
|
0.00001
|
|
NM_000136.3(FANCC):c.345G>A (p.Gln115=)
|
rs1031713372
|
0.00001
|
|
NM_000136.3(FANCC):c.346-12T>C
|
rs769706832
|
0.00001
|
|
NM_000136.3(FANCC):c.346-8T>C
|
rs747950159
|
0.00001
|
|
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp)
|
rs1282106098
|
0.00001
|
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
|
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe)
|
rs587779906
|
0.00001
|
|
NM_000136.3(FANCC):c.407A>C (p.Gln136Pro)
|
rs1180924540
|
0.00001
|
|
NM_000136.3(FANCC):c.436_438del (p.Tyr146del)
|
rs761347179
|
0.00001
|
|
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)
|
rs730881711
|
0.00001
|
|
NM_000136.3(FANCC):c.456+8T>C
|
rs761639538
|
0.00001
|
|
NM_000136.3(FANCC):c.457-9G>A
|
rs762529432
|
0.00001
|
|
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)
|
rs1831179586
|
0.00001
|
|
NM_000136.3(FANCC):c.468A>G (p.Ser156=)
|
rs148616725
|
0.00001
|
|
NM_000136.3(FANCC):c.46A>G (p.Met16Val)
|
rs1390412870
|
0.00001
|
|
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)
|
rs372338418
|
0.00001
|
|
NM_000136.3(FANCC):c.474G>A (p.Ala158=)
|
rs768342908
|
0.00001
|
|
NM_000136.3(FANCC):c.501T>C (p.Asn167=)
|
rs1057520284
|
0.00001
|
|
NM_000136.3(FANCC):c.510C>T (p.Asn170=)
|
rs777734585
|
0.00001
|
|
NM_000136.3(FANCC):c.521+10_521+13del
|
rs1372625836
|
0.00001
|
|
NM_000136.3(FANCC):c.521+5G>C
|
rs1301899973
|
0.00001
|
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
|
NM_000136.3(FANCC):c.526G>C (p.Ala176Pro)
|
rs767389988
|
0.00001
|
|
NM_000136.3(FANCC):c.530C>T (p.Pro177Leu)
|
rs1208450171
|
0.00001
|
|
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys)
|
rs554302947
|
0.00001
|
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
|
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln)
|
rs538875706
|
0.00001
|
|
NM_000136.3(FANCC):c.542C>T (p.Ala181Val)
|
rs182879858
|
0.00001
|
|
NM_000136.3(FANCC):c.543G>A (p.Ala181=)
|
rs758919360
|
0.00001
|
|
NM_000136.3(FANCC):c.551C>T (p.Ser184Leu)
|
rs746367952
|
0.00001
|
|
NM_000136.3(FANCC):c.571A>C (p.Ile191Leu)
|
rs752429169
|
0.00001
|
|
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
|
rs767302089
|
0.00001
|
|
NM_000136.3(FANCC):c.576C>T (p.Thr192=)
|
rs759392396
|
0.00001
|
|
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys)
|
rs373270404
|
0.00001
|
|
NM_000136.3(FANCC):c.635A>G (p.Gln212Arg)
|
rs1445499474
|
0.00001
|
|
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu)
|
rs730881714
|
0.00001
|
|
NM_000136.3(FANCC):c.656T>A (p.Phe219Tyr)
|
rs1588181383
|
0.00001
|
|
NM_000136.3(FANCC):c.668T>C (p.Val223Ala)
|
rs751410815
|
0.00001
|
|
NM_000136.3(FANCC):c.678C>T (p.Ala226=)
|
rs775845203
|
0.00001
|
|
NM_000136.3(FANCC):c.679A>G (p.Ile227Val)
|
rs864622550
|
0.00001
|
|
NM_000136.3(FANCC):c.686+8G>A
|
rs1312864289
|
0.00001
|
|
NM_000136.3(FANCC):c.687-15A>C
|
rs765327075
|
0.00001
|
|
NM_000136.3(FANCC):c.690G>A (p.Lys230=)
|
rs199744457
|
0.00001
|
|
NM_000136.3(FANCC):c.693G>A (p.Lys231=)
|
rs955961811
|
0.00001
|
|
NM_000136.3(FANCC):c.706A>G (p.Met236Val)
|
rs771319430
|
0.00001
|
|
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe)
|
rs1554835099
|
0.00001
|
|
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr)
|
rs1165230596
|
0.00001
|
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
|
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser)
|
rs730881718
|
0.00001
|
|
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu)
|
rs745621828
|
0.00001
|
|
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)
|
rs757190154
|
0.00001
|
|
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu)
|
rs749230615
|
0.00001
|
|
NM_000136.3(FANCC):c.843+9del
|
rs1827516873
|
0.00001
|
|
NM_000136.3(FANCC):c.844-14T>C
|
rs759280421
|
0.00001
|
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
|
NM_000136.3(FANCC):c.851C>T (p.Ala284Val)
|
rs201281511
|
0.00001
|
|
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)
|
rs769649289
|
0.00001
|
|
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln)
|
rs747060782
|
0.00001
|
|
NM_000136.3(FANCC):c.882T>C (p.Val294=)
|
rs750639831
|
0.00001
|
|
NM_000136.3(FANCC):c.896+11C>G
|
rs1012591196
|
0.00001
|
|
NM_000136.3(FANCC):c.897-10C>T
|
rs955495354
|
0.00001
|
|
NM_000136.3(FANCC):c.897-3C>T
|
rs1057521714
|
0.00001
|
|
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser)
|
rs759083348
|
0.00001
|
|
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro)
|
rs1415268424
|
0.00001
|
|
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn)
|
rs772992002
|
0.00001
|
|
NM_000136.3(FANCC):c.916_917del (p.Asp306fs)
|
rs779806106
|
0.00001
|
|
NM_000136.3(FANCC):c.917A>T (p.Asp306Val)
|
rs1383010376
|
0.00001
|
|
NM_000136.3(FANCC):c.924C>G (p.Ala308=)
|
rs864622225
|
0.00001
|
|
NM_000136.3(FANCC):c.943A>G (p.Ile315Val)
|
rs587779910
|
0.00001
|
|
NM_000136.3(FANCC):c.956C>T (p.Thr319Met)
|
rs745910444
|
0.00001
|
|
NM_000136.3(FANCC):c.957G>A (p.Thr319=)
|
rs1060504647
|
0.00001
|
|
NM_000136.3(FANCC):c.996+17A>G
|
rs767279490
|
0.00001
|
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
|
NM_000136.3(FANCC):c.996+6T>C
|
rs200934877
|
0.00001
|
|
NM_000136.3(FANCC):c.996+9dup
|
rs781108327
|
0.00001
|
|
NM_000136.3(FANCC):c.997-12A>G
|
rs1368651985
|
0.00001
|
|
NM_000136.3(FANCC):c.997-6T>C
|
rs1057524604
|
0.00001
|
|
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro)
|
rs864622191
|
0.00001
|
|
NM_000969.5(RPL5):c.18T>A (p.Val6=)
|
rs768965548
|
0.00001
|
|
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys)
|
rs750383596
|
0.00001
|
|
NM_000969.5(RPL5):c.204T>A (p.Arg68=)
|
rs1031900489
|
0.00001
|
|
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
|
rs752867126
|
0.00001
|
|
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn)
|
rs1043234543
|
0.00001
|
|
NM_000969.5(RPL5):c.266A>G (p.Lys89Arg)
|
rs1314815534
|
0.00001
|
|
NM_000969.5(RPL5):c.307C>T (p.Leu103=)
|
rs574546327
|
0.00001
|
|
NM_000969.5(RPL5):c.309G>T (p.Leu103=)
|
rs760490644
|
0.00001
|
|
NM_000969.5(RPL5):c.381T>A (p.Gly127=)
|
rs1251386648
|
0.00001
|
|
NM_000969.5(RPL5):c.384T>C (p.Asp128=)
|
rs749814264
|
0.00001
|
|
NM_000969.5(RPL5):c.4-4T>C
|
rs746944177
|
0.00001
|
|
NM_000969.5(RPL5):c.435T>C (p.Tyr145=)
|
rs188046229
|
0.00001
|
|
NM_000969.5(RPL5):c.527+10C>T
|
rs779348774
|
0.00001
|
|
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln)
|
rs771013653
|
0.00001
|
|
NM_000969.5(RPL5):c.589A>G (p.Lys197Glu)
|
rs776644546
|
0.00001
|
|
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys)
|
rs770095159
|
0.00001
|
|
NM_000969.5(RPL5):c.657C>T (p.Tyr219=)
|
rs1481353859
|
0.00001
|
|
NM_000969.5(RPL5):c.666G>C (p.Gln222His)
|
rs767163981
|
0.00001
|
|
NM_000969.5(RPL5):c.795-9C>A
|
rs748765097
|
0.00001
|
|
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
|
rs765443248
|
0.00001
|
|
NM_000969.5(RPL5):c.846A>G (p.Gln282=)
|
rs376641112
|
0.00001
|
|
NM_000975.5(RPL11):c.23A>G (p.Lys8Arg)
|
rs760498453
|
0.00001
|
|
NM_000975.5(RPL11):c.24G>A (p.Lys8=)
|
rs143617222
|
0.00001
|
|
NM_000975.5(RPL11):c.264+9A>T
|
rs777041270
|
0.00001
|
|
NM_000975.5(RPL11):c.306T>C (p.Thr102=)
|
rs886046309
|
0.00001
|
|
NM_000975.5(RPL11):c.454G>A (p.Gly152Arg)
|
rs766991539
|
0.00001
|
|
NM_000975.5(RPL11):c.5C>T (p.Ala2Val)
|
rs768850297
|
0.00001
|
|
NM_000975.5(RPL11):c.72C>T (p.Ile24=)
|
rs781675016
|
0.00001
|
|
NM_000987.5(RPL26):c.24T>C (p.Thr8=)
|
rs750540417
|
0.00001
|
|
NM_000987.5(RPL26):c.255G>A (p.Val85=)
|
rs758125897
|
0.00001
|
|
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp)
|
rs878854147
|
0.00001
|
|
NM_000987.5(RPL26):c.97C>T (p.Pro33Ser)
|
rs747386536
|
0.00001
|
|
NM_000996.4(RPL35A):c.101A>T (p.Tyr34Phe)
|
rs773889184
|
0.00001
|
|
NM_000996.4(RPL35A):c.11+11T>C
|
rs766619628
|
0.00001
|
|
NM_000996.4(RPL35A):c.11+17T>C
|
rs780298603
|
0.00001
|
|
NM_000996.4(RPL35A):c.113A>G (p.Glu38Gly)
|
rs1401148284
|
0.00001
|
|
NM_000996.4(RPL35A):c.12-13T>A
|
rs778146996
|
0.00001
|
|
NM_000996.4(RPL35A):c.141C>T (p.Cys47=)
|
rs1440792535
|
0.00001
|
|
NM_000996.4(RPL35A):c.253C>G (p.Arg85Gly)
|
rs773689278
|
0.00001
|
|
NM_000996.4(RPL35A):c.270C>T (p.Ser90=)
|
rs772084930
|
0.00001
|
|
NM_000996.4(RPL35A):c.28A>G (p.Ile10Val)
|
rs553548757
|
0.00001
|
|
NM_000996.4(RPL35A):c.35C>T (p.Ala12Val)
|
rs780895868
|
0.00001
|
|
NM_000996.4(RPL35A):c.57G>A (p.Arg19=)
|
rs769775044
|
0.00001
|
|
NM_000996.4(RPL35A):c.59A>G (p.Asn20Ser)
|
rs1283030430
|
0.00001
|
|
NM_001011.4(RPS7):c.126G>A (p.Glu42=)
|
rs777387773
|
0.00001
|
|
NM_001011.4(RPS7):c.137C>T (p.Thr46Met)
|
rs1006838420
|
0.00001
|
|
NM_001011.4(RPS7):c.301C>T (p.Leu101=)
|
rs1001502341
|
0.00001
|
|
NM_001011.4(RPS7):c.356+3G>A
|
rs1161877660
|
0.00001
|
|
NM_001011.4(RPS7):c.378C>T (p.His126=)
|
rs764498089
|
0.00001
|
|
NM_001011.4(RPS7):c.39C>T (p.Gly13=)
|
rs746686516
|
0.00001
|
|
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys)
|
rs200400906
|
0.00001
|
|
NM_001011.4(RPS7):c.436G>A (p.Val146Ile)
|
rs367770078
|
0.00001
|
|
NM_001011.4(RPS7):c.452G>T (p.Ser151Ile)
|
rs1461848852
|
0.00001
|
|
NM_001011.4(RPS7):c.462A>T (p.Ile154=)
|
rs1478289413
|
0.00001
|
|
NM_001011.4(RPS7):c.525T>G (p.Gly175=)
|
rs1392470365
|
0.00001
|
|
NM_001011.4(RPS7):c.66C>T (p.Gly22=)
|
rs773617808
|
0.00001
|
|
NM_001011.4(RPS7):c.77C>T (p.Ala26Val)
|
rs939123022
|
0.00001
|
|
NM_001014.5(RPS10):c.164G>A (p.Arg55Gln)
|
rs1765898082
|
0.00001
|
|
NM_001014.5(RPS10):c.186T>C (p.Phe62=)
|
rs753811128
|
0.00001
|
|
NM_001014.5(RPS10):c.189C>T (p.Ala63=)
|
rs772715124
|
0.00001
|
|
NM_001014.5(RPS10):c.312T>A (p.Pro104=)
|
rs775998609
|
0.00001
|
|
NM_001014.5(RPS10):c.322+15C>G
|
rs770954930
|
0.00001
|
|
NM_001014.5(RPS10):c.322+16A>G
|
rs747142176
|
0.00001
|
|
NM_001014.5(RPS10):c.323-4A>G
|
rs200083898
|
0.00001
|
|
NM_001014.5(RPS10):c.360G>A (p.Gly120=)
|
rs763715001
|
0.00001
|
|
NM_001014.5(RPS10):c.401-17G>A
|
rs753421531
|
0.00001
|
|
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe)
|
rs1426463647
|
0.00001
|
|
NM_001014.5(RPS10):c.425C>T (p.Ala142Val)
|
rs1765648018
|
0.00001
|
|
NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly)
|
rs1422244944
|
0.00001
|
|
NM_001018113.3(FANCB):c.111T>C (p.Pro37=)
|
rs1172968993
|
0.00001
|
|
NM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg)
|
rs781251036
|
0.00001
|
|
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile)
|
rs2092465105
|
0.00001
|
|
NM_001018113.3(FANCB):c.1149A>G (p.Lys383=)
|
rs751649474
|
0.00001
|
|
NM_001018113.3(FANCB):c.1160G>A (p.Arg387His)
|
rs757202355
|
0.00001
|
|
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
|
rs764156696
|
0.00001
|
|
NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp)
|
rs750569208
|
0.00001
|
|
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)
|
rs753030842
|
0.00001
|
|
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met)
|
rs772802668
|
0.00001
|
|
NM_001018113.3(FANCB):c.1314A>C (p.Ser438=)
|
rs2092408394
|
0.00001
|
|
NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr)
|
rs1313938907
|
0.00001
|
|
NM_001018113.3(FANCB):c.1327-1G>A
|
rs1295003944
|
0.00001
|
|
NM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr)
|
rs867778700
|
0.00001
|
|
NM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys)
|
rs2092396737
|
0.00001
|
|
NM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile)
|
rs373632536
|
0.00001
|
|
NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln)
|
rs1379342414
|
0.00001
|
|
NM_001018113.3(FANCB):c.1582A>G (p.Ile528Val)
|
rs749342600
|
0.00001
|
|
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)
|
rs773313492
|
0.00001
|
|
NM_001018113.3(FANCB):c.1610C>T (p.Ala537Val)
|
rs752804063
|
0.00001
|
|
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=)
|
rs767952529
|
0.00001
|
|
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val)
|
rs1336185048
|
0.00001
|
|
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)
|
rs773221142
|
0.00001
|
|
NM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile)
|
rs771950360
|
0.00001
|
|
NM_001018113.3(FANCB):c.1746A>G (p.Thr582=)
|
rs1228686996
|
0.00001
|
|
NM_001018113.3(FANCB):c.1755A>G (p.Ser585=)
|
rs745472535
|
0.00001
|
|
NM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser)
|
rs1298952108
|
0.00001
|
|
NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp)
|
rs1317998053
|
0.00001
|
|
NM_001018113.3(FANCB):c.17C>A (p.Ala6Glu)
|
rs780032769
|
0.00001
|
|
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
|
rs1317100453
|
0.00001
|
|
NM_001018113.3(FANCB):c.1894T>G (p.Tyr632Asp)
|
rs149387792
|
0.00001
|
|
NM_001018113.3(FANCB):c.18A>G (p.Ala6=)
|
rs2092465606
|
0.00001
|
|
NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu)
|
rs776713934
|
0.00001
|
|
NM_001018113.3(FANCB):c.1924A>G (p.Ile642Val)
|
rs370765798
|
0.00001
|
|
NM_001018113.3(FANCB):c.1928-20G>T
|
rs780575945
|
0.00001
|
|
NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr)
|
rs1220308530
|
0.00001
|
|
NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr)
|
rs1440633578
|
0.00001
|
|
NM_001018113.3(FANCB):c.2015T>C (p.Met672Thr)
|
rs377268147
|
0.00001
|
|
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn)
|
rs1416043928
|
0.00001
|
|
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu)
|
rs1232355920
|
0.00001
|
|
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile)
|
rs1278850689
|
0.00001
|
|
NM_001018113.3(FANCB):c.2144G>T (p.Gly715Val)
|
rs1389308960
|
0.00001
|
|
NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys)
|
rs758926056
|
0.00001
|
|
NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala)
|
rs765112491
|
0.00001
|
|
NM_001018113.3(FANCB):c.2218A>G (p.Ile740Val)
|
rs746453967
|
0.00001
|
|
NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu)
|
rs767721906
|
0.00001
|
|
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly)
|
rs750381270
|
0.00001
|
|
NM_001018113.3(FANCB):c.2379A>G (p.Gly793=)
|
rs1374912480
|
0.00001
|
|
NM_001018113.3(FANCB):c.2391C>T (p.Val797=)
|
rs778731279
|
0.00001
|
|
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala)
|
rs1020168794
|
0.00001
|
|
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile)
|
rs995483698
|
0.00001
|
|
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu)
|
rs767194178
|
0.00001
|
|
NM_001018113.3(FANCB):c.2563A>G (p.Lys855Glu)
|
rs773885877
|
0.00001
|
|
NM_001018113.3(FANCB):c.318A>G (p.Glu106=)
|
rs1215227353
|
0.00001
|
|
NM_001018113.3(FANCB):c.341G>A (p.Ser114Asn)
|
rs1254494594
|
0.00001
|
|
NM_001018113.3(FANCB):c.361C>T (p.Arg121Cys)
|
rs145928137
|
0.00001
|
|
NM_001018113.3(FANCB):c.440T>C (p.Val147Ala)
|
rs757074045
|
0.00001
|
|
NM_001018113.3(FANCB):c.521G>A (p.Gly174Glu)
|
rs1316359856
|
0.00001
|
|
NM_001018113.3(FANCB):c.526A>T (p.Ile176Phe)
|
rs1208436363
|
0.00001
|
|
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His)
|
rs996732250
|
0.00001
|
|
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr)
|
rs1366041068
|
0.00001
|
|
NM_001018113.3(FANCB):c.609A>C (p.Ser203=)
|
rs1206454126
|
0.00001
|
|
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)
|
rs747819351
|
0.00001
|
|
NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly)
|
rs1265222877
|
0.00001
|
|
NM_001018113.3(FANCB):c.667T>C (p.Leu223=)
|
rs1308832555
|
0.00001
|
|
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)
|
rs374217132
|
0.00001
|
|
NM_001018113.3(FANCB):c.814A>G (p.Thr272Ala)
|
rs769701122
|
0.00001
|
|
NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu)
|
rs1270593506
|
0.00001
|
|
NM_001018113.3(FANCB):c.897C>T (p.Phe299=)
|
rs753443421
|
0.00001
|
|
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)
|
rs757610875
|
0.00001
|
|
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val)
|
rs754238911
|
0.00001
|
|
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val)
|
rs1242186487
|
0.00001
|
|
NM_001018113.3(FANCB):c.939A>G (p.Lys313=)
|
rs767512088
|
0.00001
|
|
NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp)
|
rs1246382467
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1047A>G (p.Val349=)
|
rs761258624
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1132A>G (p.Lys378Glu)
|
rs1171804978
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr)
|
rs148255762
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1250T>C (p.Leu417Pro)
|
rs1369011648
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1310C>T (p.Ser437Leu)
|
rs1349417700
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1311G>A (p.Ser437=)
|
rs564577177
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1325T>G (p.Leu442Trp)
|
rs1400034764
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1343A>G (p.Gln448Arg)
|
rs777539464
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile)
|
rs780374375
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met)
|
rs760246372
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1414-4A>G
|
rs781613701
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile)
|
rs761454597
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1516G>A (p.Ala506Thr)
|
rs767699213
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1519A>G (p.Met507Val)
|
rs376708399
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1546-7T>A
|
rs548887691
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1589G>A (p.Arg530Gln)
|
rs1249790407
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1671G>A (p.Leu557=)
|
rs746726118
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=)
|
rs769844392
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1699G>A (p.Val567Ile)
|
rs773483393
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1758G>A (p.Ala586=)
|
rs370284275
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1767-7T>C
|
rs756066137
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
|
rs1447943740
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1835C>T (p.Ser612Phe)
|
rs760516842
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1864G>A (p.Glu622Lys)
|
rs375951862
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys)
|
rs770231582
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1903T>C (p.Phe635Leu)
|
rs1179966779
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1912C>G (p.Leu638Val)
|
rs760324486
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1993G>A (p.Val665Ile)
|
rs774405864
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=)
|
rs138189144
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=)
|
rs552206789
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2085T>C (p.Ile695=)
|
rs760296624
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2170T>G (p.Leu724Val)
|
rs201243424
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2175G>A (p.Val725=)
|
rs776116877
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser)
|
rs911843298
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp)
|
rs752621186
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln)
|
rs755975980
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2265A>G (p.Leu755=)
|
rs376828609
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2269+3A>G
|
rs1246708998
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2270A>G (p.Asp757Gly)
|
rs779060030
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe)
|
rs1398046806
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2366C>T (p.Thr789Ile)
|
rs1263342232
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2376G>C (p.Trp792Cys)
|
rs752013429
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2386-15A>G
|
rs542904509
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val)
|
rs1305213202
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=)
|
rs574054963
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2494+2T>C
|
rs779552164
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2494+9A>G
|
rs754665005
|
0.00001
|
|
NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys)
|
rs375506300
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2577A>G (p.Ser859=)
|
rs772038476
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2605+20C>G
|
rs1429678820
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2606-7A>G
|
rs757102395
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2632A>C (p.Lys878Gln)
|
rs780018258
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2715+20C>G
|
rs199714316
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2730G>T (p.Lys910Asn)
|
rs369241246
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2745_2747del (p.Leu918del)
|
rs1232274352
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2810A>G (p.His937Arg)
|
rs746389067
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2860-6T>A
|
rs772531991
|
0.00001
|
|
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile)
|
rs1480379325
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2926C>A (p.Leu976Met)
|
rs753809948
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2989C>T (p.Arg997Trp)
|
rs587778330
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2990G>A (p.Arg997Gln)
|
rs587778331
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3012C>G (p.Leu1004=)
|
rs773625038
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=)
|
rs552885346
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3222T>C (p.Ala1074=)
|
rs1238683323
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3224+13G>C
|
rs764386433
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3224+8T>A
|
rs1412513898
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3225-13T>C
|
rs996065278
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3248A>G (p.Asn1083Ser)
|
rs1180577651
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=)
|
rs759252565
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3313C>G (p.Gln1105Glu)
|
rs1694168766
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3347A>G (p.His1116Arg)
|
rs548876750
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3400C>T (p.Leu1134Phe)
|
rs587778332
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3416T>C (p.Met1139Thr)
|
rs755205321
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile)
|
rs988476435
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=)
|
rs533541893
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=)
|
rs570459552
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser)
|
rs764205355
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3543G>A (p.Gln1181=)
|
rs138409505
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3549T>C (p.His1183=)
|
rs758749466
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)
|
rs745765337
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe)
|
rs373757862
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3638A>G (p.Asn1213Ser)
|
rs771903324
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3639C>G (p.Asn1213Lys)
|
rs780098296
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=)
|
rs1168183069
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu)
|
rs367552677
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
|
rs760054945
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala)
|
rs767806932
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3751C>G (p.Pro1251Ala)
|
rs568515612
|
0.00001
|
|
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)
|
rs764507146
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu)
|
rs374940277
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3772C>G (p.Gln1258Glu)
|
rs994778998
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3775C>A (p.Gln1259Lys)
|
rs1407465957
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)
|
rs775517107
|
0.00001
|
|
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys)
|
rs772201181
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3888+2T>G
|
rs1419879344
|
0.00001
|
|
NM_001018115.3(FANCD2):c.38A>G (p.Lys13Arg)
|
rs756078235
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3963+11A>G
|
rs945877549
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3963+8C>T
|
rs201623111
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4047G>A (p.Gln1349=)
|
rs370343891
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4048G>A (p.Asp1350Asn)
|
rs772169028
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4056A>G (p.Arg1352=)
|
rs1336906399
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4133A>G (p.Asn1378Ser)
|
rs1452379242
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4137T>A (p.Asn1379Lys)
|
rs752376206
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4140T>C (p.Cys1380=)
|
rs954149471
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser)
|
rs745472884
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4185+20A>G
|
rs770768796
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys)
|
rs753272541
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
|
rs61753270
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+121C>T
|
rs764865805
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+22_4281+29del
|
rs878855172
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+42C>T
|
rs1415649585
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+69G>A
|
rs754606069
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+71G>A
|
rs568997706
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+77C>T
|
rs748421381
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+91G>A
|
rs771414227
|
0.00001
|
|
NM_001018115.3(FANCD2):c.438+8T>G
|
rs762114353
|
0.00001
|
|
NM_001018115.3(FANCD2):c.439-3T>C
|
rs771998947
|
0.00001
|
|
NM_001018115.3(FANCD2):c.461T>C (p.Phe154Ser)
|
rs200668378
|
0.00001
|
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
|
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln)
|
rs41291203
|
0.00001
|
|
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
|
rs2086806957
|
0.00001
|
|
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val)
|
rs779216164
|
0.00001
|
|
NM_001018115.3(FANCD2):c.58G>A (p.Ala20Thr)
|
rs1338392055
|
0.00001
|
|
NM_001018115.3(FANCD2):c.65-3C>T
|
rs1461324891
|
0.00001
|
|
NM_001018115.3(FANCD2):c.695+10C>T
|
rs757359450
|
0.00001
|
|
NM_001018115.3(FANCD2):c.695+18C>T
|
rs767119830
|
0.00001
|
|
NM_001018115.3(FANCD2):c.696-1G>A
|
rs954555240
|
0.00001
|
|
NM_001018115.3(FANCD2):c.704T>C (p.Leu235Pro)
|
rs760574880
|
0.00001
|
|
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)
|
rs374328858
|
0.00001
|
|
NM_001018115.3(FANCD2):c.778T>C (p.Leu260=)
|
rs756621826
|
0.00001
|
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
|
NM_001018115.3(FANCD2):c.784-9A>G
|
rs1388537203
|
0.00001
|
|
NM_001018115.3(FANCD2):c.805A>C (p.Lys269Gln)
|
rs747977469
|
0.00001
|
|
NM_001018115.3(FANCD2):c.812C>T (p.Ser271Leu)
|
rs766821340
|
0.00001
|
|
NM_001018115.3(FANCD2):c.813G>A (p.Ser271=)
|
rs773072936
|
0.00001
|
|
NM_001018115.3(FANCD2):c.828G>A (p.Glu276=)
|
rs1246470195
|
0.00001
|
|
NM_001018115.3(FANCD2):c.888+8C>G
|
rs201124351
|
0.00001
|
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00001
|
|
NM_001018115.3(FANCD2):c.908A>G (p.Glu303Gly)
|
rs367824549
|
0.00001
|
|
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu)
|
rs183778817
|
0.00001
|
|
NM_001018115.3(FANCD2):c.989+9C>T
|
rs2086907710
|
0.00001
|
|
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg)
|
rs1400674746
|
0.00001
|
|
NM_001022.4(RPS19):c.173-9T>C
|
rs782552614
|
0.00001
|
|
NM_001022.4(RPS19):c.24C>T (p.Asp8=)
|
rs782536520
|
0.00001
|
|
NM_001022.4(RPS19):c.259G>A (p.Val87Ile)
|
rs782752734
|
0.00001
|
|
NM_001022.4(RPS19):c.356+12del
|
rs781789110
|
0.00001
|
|
NM_001022.4(RPS19):c.357-6C>T
|
rs529093944
|
0.00001
|
|
NM_001022.4(RPS19):c.393G>A (p.Leu131=)
|
rs1447794153
|
0.00001
|
|
NM_001022.4(RPS19):c.405C>T (p.Ala135=)
|
rs550819306
|
0.00001
|
|
NM_001022.4(RPS19):c.93C>G (p.Pro31=)
|
rs1318520916
|
0.00001
|
|
NM_001029.5(RPS26):c.266G>A (p.Arg89His)
|
rs764673368
|
0.00001
|
|
NM_001029.5(RPS26):c.291C>T (p.Pro97=)
|
rs766621663
|
0.00001
|
|
NM_001029.5(RPS26):c.3+14C>T
|
rs763770729
|
0.00001
|
|
NM_001029.5(RPS26):c.3+20G>C
|
rs759864837
|
0.00001
|
|
NM_001029.5(RPS26):c.3+6T>G
|
rs748437026
|
0.00001
|
|
NM_001029.5(RPS26):c.315T>A (p.Gly105=)
|
rs554297156
|
0.00001
|
|
NM_001029.5(RPS26):c.42C>T (p.Gly14=)
|
rs771196681
|
0.00001
|
|
NM_001029.5(RPS26):c.69C>T (p.Cys23=)
|
rs986563758
|
0.00001
|
|
NM_001029.5(RPS26):c.81C>T (p.Ala27=)
|
rs773982358
|
0.00001
|
|
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
|
rs72762644
|
0.00001
|
|
NM_001113378.2(FANCI):c.1026A>G (p.Gln342=)
|
rs752386484
|
0.00001
|
|
NM_001113378.2(FANCI):c.1038C>T (p.Gly346=)
|
rs1465922906
|
0.00001
|
|
NM_001113378.2(FANCI):c.1039T>C (p.Ser347Pro)
|
rs1289791231
|
0.00001
|
|
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser)
|
rs565007212
|
0.00001
|
|
NM_001113378.2(FANCI):c.1138C>G (p.Gln380Glu)
|
rs748470270
|
0.00001
|
|
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala)
|
rs1012254525
|
0.00001
|
|
NM_001113378.2(FANCI):c.1185A>C (p.Pro395=)
|
rs371838837
|
0.00001
|
|
NM_001113378.2(FANCI):c.1212T>C (p.Ile404=)
|
rs749893514
|
0.00001
|
|
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile)
|
rs1390853875
|
0.00001
|
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
|
NM_001113378.2(FANCI):c.1386G>A (p.Leu462=)
|
rs1427057962
|
0.00001
|
|
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)
|
rs200186938
|
0.00001
|
|
NM_001113378.2(FANCI):c.1406A>G (p.Tyr469Cys)
|
rs756206080
|
0.00001
|
|
NM_001113378.2(FANCI):c.1411C>G (p.Pro471Ala)
|
rs1287849752
|
0.00001
|
|
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile)
|
rs746777753
|
0.00001
|
|
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly)
|
rs775192850
|
0.00001
|
|
NM_001113378.2(FANCI):c.1477C>T (p.Leu493Phe)
|
rs2053603881
|
0.00001
|
|
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=)
|
rs775006497
|
0.00001
|
|
NM_001113378.2(FANCI):c.1510C>A (p.Gln504Lys)
|
rs554471987
|
0.00001
|
|
NM_001113378.2(FANCI):c.1513-13G>C
|
rs1451472127
|
0.00001
|
|
NM_001113378.2(FANCI):c.1514C>T (p.Pro505Leu)
|
rs773105092
|
0.00001
|
|
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe)
|
rs762294213
|
0.00001
|
|
NM_001113378.2(FANCI):c.1557T>C (p.Leu519=)
|
rs138767485
|
0.00001
|
|
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)
|
rs1347292940
|
0.00001
|
|
NM_001113378.2(FANCI):c.1680G>A (p.Gln560=)
|
rs1181466139
|
0.00001
|
|
NM_001113378.2(FANCI):c.1698+11T>C
|
rs1349464743
|
0.00001
|
|
NM_001113378.2(FANCI):c.1698+6G>T
|
rs762886638
|
0.00001
|
|
NM_001113378.2(FANCI):c.16T>G (p.Leu6Val)
|
rs748018574
|
0.00001
|
|
NM_001113378.2(FANCI):c.1787G>A (p.Ser596Asn)
|
rs754190768
|
0.00001
|
|
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln)
|
rs201641791
|
0.00001
|
|
NM_001113378.2(FANCI):c.1821+5G>A
|
rs769718753
|
0.00001
|
|
NM_001113378.2(FANCI):c.1821+9G>A
|
rs1596292257
|
0.00001
|
|
NM_001113378.2(FANCI):c.1824G>A (p.Gly608=)
|
rs777877618
|
0.00001
|
|
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)
|
rs551399966
|
0.00001
|
|
NM_001113378.2(FANCI):c.18A>G (p.Leu6=)
|
rs1344119716
|
0.00001
|
|
NM_001113378.2(FANCI):c.1956G>C (p.Leu652=)
|
rs770437879
|
0.00001
|
|
NM_001113378.2(FANCI):c.1976C>T (p.Ser659Phe)
|
rs776139524
|
0.00001
|
|
NM_001113378.2(FANCI):c.1993-7C>G
|
rs773420007
|
0.00001
|
|
NM_001113378.2(FANCI):c.1A>G (p.Met1Val)
|
rs781249928
|
0.00001
|
|
NM_001113378.2(FANCI):c.2017C>T (p.His673Tyr)
|
rs763866498
|
0.00001
|
|
NM_001113378.2(FANCI):c.2033A>G (p.Tyr678Cys)
|
rs916935359
|
0.00001
|
|
NM_001113378.2(FANCI):c.2051C>T (p.Pro684Leu)
|
rs779276973
|
0.00001
|
|
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg)
|
rs772393046
|
0.00001
|
|
NM_001113378.2(FANCI):c.2063G>A (p.Gly688Glu)
|
rs778157971
|
0.00001
|
|
NM_001113378.2(FANCI):c.2098G>A (p.Glu700Lys)
|
rs199615501
|
0.00001
|
|
NM_001113378.2(FANCI):c.2114T>C (p.Ile705Thr)
|
rs760554629
|
0.00001
|
|
NM_001113378.2(FANCI):c.2131A>T (p.Asn711Tyr)
|
rs766073258
|
0.00001
|
|
NM_001113378.2(FANCI):c.2169+12G>A
|
rs886051512
|
0.00001
|
|
NM_001113378.2(FANCI):c.2169+8C>G
|
rs534051118
|
0.00001
|
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
|
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
|
rs757610698
|
0.00001
|
|
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr)
|
rs911033971
|
0.00001
|
|
NM_001113378.2(FANCI):c.2212A>G (p.Lys738Glu)
|
rs1423332049
|
0.00001
|
|
NM_001113378.2(FANCI):c.2224T>C (p.Cys742Arg)
|
rs770611634
|
0.00001
|
|
NM_001113378.2(FANCI):c.228G>A (p.Val76=)
|
rs1296744474
|
0.00001
|
|
NM_001113378.2(FANCI):c.2292-6T>C
|
rs772352819
|
0.00001
|
|
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu)
|
rs754443451
|
0.00001
|
|
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile)
|
rs560692029
|
0.00001
|
|
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu)
|
rs1421332670
|
0.00001
|
|
NM_001113378.2(FANCI):c.2393A>G (p.Asn798Ser)
|
rs548409550
|
0.00001
|
|
NM_001113378.2(FANCI):c.2421G>A (p.Met807Ile)
|
rs1282555629
|
0.00001
|
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
|
NM_001113378.2(FANCI):c.243G>T (p.Leu81Phe)
|
rs765418977
|
0.00001
|
|
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp)
|
rs879531765
|
0.00001
|
|
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)
|
rs748000458
|
0.00001
|
|
NM_001113378.2(FANCI):c.2520C>G (p.Arg840=)
|
rs1210098933
|
0.00001
|
|
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His)
|
rs777269384
|
0.00001
|
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
|
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp)
|
rs1361710673
|
0.00001
|
|
NM_001113378.2(FANCI):c.2577G>C (p.Val859=)
|
rs562877308
|
0.00001
|
|
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
|
rs199758631
|
0.00001
|
|
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln)
|
rs1384613419
|
0.00001
|
|
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu)
|
rs1368909419
|
0.00001
|
|
NM_001113378.2(FANCI):c.2617A>G (p.Asn873Asp)
|
rs764167093
|
0.00001
|
|
NM_001113378.2(FANCI):c.2623T>C (p.Cys875Arg)
|
rs1309949902
|
0.00001
|
|
NM_001113378.2(FANCI):c.2636+3A>G
|
rs2054202681
|
0.00001
|
|
NM_001113378.2(FANCI):c.2636+4A>G
|
rs1211300732
|
0.00001
|
|
NM_001113378.2(FANCI):c.2636G>A (p.Arg879Gln)
|
rs1488657979
|
0.00001
|
|
NM_001113378.2(FANCI):c.2649G>C (p.Trp883Cys)
|
rs776067081
|
0.00001
|
|
NM_001113378.2(FANCI):c.2673A>T (p.Ser891=)
|
rs1567170286
|
0.00001
|
|
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu)
|
rs762647324
|
0.00001
|
|
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala)
|
rs751233975
|
0.00001
|
|
NM_001113378.2(FANCI):c.2721G>A (p.Leu907=)
|
rs369902896
|
0.00001
|
|
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val)
|
rs748546731
|
0.00001
|
|
NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter)
|
rs1303324683
|
0.00001
|
|
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu)
|
rs773438545
|
0.00001
|
|
NM_001113378.2(FANCI):c.2813A>G (p.Asp938Gly)
|
rs1060501898
|
0.00001
|
|
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp)
|
rs1184165155
|
0.00001
|
|
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile)
|
rs767462150
|
0.00001
|
|
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln)
|
rs151267266
|
0.00001
|
|
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln)
|
rs776851666
|
0.00001
|
|
NM_001113378.2(FANCI):c.288+13A>T
|
rs748684931
|
0.00001
|
|
NM_001113378.2(FANCI):c.288+15_288+16insGT
|
rs770691019
|
0.00001
|
|
NM_001113378.2(FANCI):c.290C>T (p.Ala97Val)
|
rs1555442676
|
0.00001
|
|
NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg)
|
rs780663944
|
0.00001
|
|
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr)
|
rs886051507
|
0.00001
|
|
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
|
rs1194951081
|
0.00001
|
|
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg)
|
rs150387641
|
0.00001
|
|
NM_001113378.2(FANCI):c.3058+10C>G
|
rs1375877085
|
0.00001
|
|
NM_001113378.2(FANCI):c.3058+1G>A
|
rs149464307
|
0.00001
|
|
NM_001113378.2(FANCI):c.3059-17T>A
|
rs778641563
|
0.00001
|
|
NM_001113378.2(FANCI):c.3069G>A (p.Leu1023=)
|
rs777093571
|
0.00001
|
|
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val)
|
rs1343059856
|
0.00001
|
|
NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys)
|
rs1429500240
|
0.00001
|
|
NM_001113378.2(FANCI):c.3186+7_3186+8insG
|
rs762412096
|
0.00001
|
|
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg)
|
rs763822728
|
0.00001
|
|
NM_001113378.2(FANCI):c.3210C>T (p.Asn1070=)
|
rs1331419585
|
0.00001
|
|
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)
|
rs767103109
|
0.00001
|
|
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala)
|
rs886051513
|
0.00001
|
|
NM_001113378.2(FANCI):c.3252C>T (p.Val1084=)
|
rs1270769440
|
0.00001
|
|
NM_001113378.2(FANCI):c.3255+8T>C
|
rs200754997
|
0.00001
|
|
NM_001113378.2(FANCI):c.3255+9T>A
|
rs1596324771
|
0.00001
|
|
NM_001113378.2(FANCI):c.3256-9T>C
|
rs1464839356
|
0.00001
|
|
NM_001113378.2(FANCI):c.3273G>A (p.Gln1091=)
|
rs147496890
|
0.00001
|
|
NM_001113378.2(FANCI):c.329A>G (p.Asn110Ser)
|
rs368987143
|
0.00001
|
|
NM_001113378.2(FANCI):c.3327A>T (p.Gln1109His)
|
rs1388053700
|
0.00001
|
|
NM_001113378.2(FANCI):c.3350-11T>C
|
rs779052518
|
0.00001
|
|
NM_001113378.2(FANCI):c.3377C>G (p.Pro1126Arg)
|
rs78234788
|
0.00001
|
|
NM_001113378.2(FANCI):c.3379A>G (p.Asn1127Asp)
|
rs878854179
|
0.00001
|
|
NM_001113378.2(FANCI):c.33A>G (p.Glu11=)
|
rs878854180
|
0.00001
|
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
0.00001
|
|
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile)
|
rs772071601
|
0.00001
|
|
NM_001113378.2(FANCI):c.3435C>G (p.Phe1145Leu)
|
rs1344945720
|
0.00001
|
|
NM_001113378.2(FANCI):c.3439G>A (p.Glu1147Lys)
|
rs947003968
|
0.00001
|
|
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val)
|
rs368451326
|
0.00001
|
|
NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val)
|
rs757606290
|
0.00001
|
|
NM_001113378.2(FANCI):c.3505A>T (p.Met1169Leu)
|
rs757606290
|
0.00001
|
|
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile)
|
rs552222011
|
0.00001
|
|
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg)
|
rs757106031
|
0.00001
|
|
NM_001113378.2(FANCI):c.3538-10T>C
|
rs1415270918
|
0.00001
|
|
NM_001113378.2(FANCI):c.3561C>T (p.Ser1187=)
|
rs748619003
|
0.00001
|
|
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg)
|
rs772739034
|
0.00001
|
|
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
|
rs149763090
|
0.00001
|
|
NM_001113378.2(FANCI):c.3592-16C>T
|
rs754610218
|
0.00001
|
|
NM_001113378.2(FANCI):c.3592-9G>A
|
rs200021557
|
0.00001
|
|
NM_001113378.2(FANCI):c.3594G>A (p.Val1198=)
|
rs986193169
|
0.00001
|
|
NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala)
|
rs759758760
|
0.00001
|
|
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs)
|
rs756691827
|
0.00001
|
|
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro)
|
rs373184027
|
0.00001
|
|
NM_001113378.2(FANCI):c.3652-14T>G
|
rs372032678
|
0.00001
|
|
NM_001113378.2(FANCI):c.3652-6C>G
|
rs752433847
|
0.00001
|
|
NM_001113378.2(FANCI):c.3652-9T>C
|
rs971308997
|
0.00001
|
|
NM_001113378.2(FANCI):c.3665G>A (p.Ser1222Asn)
|
rs746232111
|
0.00001
|
|
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr)
|
rs780218001
|
0.00001
|
|
NM_001113378.2(FANCI):c.3674A>G (p.Tyr1225Cys)
|
rs1351957141
|
0.00001
|
|
NM_001113378.2(FANCI):c.3675T>C (p.Tyr1225=)
|
rs768895822
|
0.00001
|
|
NM_001113378.2(FANCI):c.3678G>A (p.Thr1226=)
|
rs748187517
|
0.00001
|
|
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro)
|
rs751025656
|
0.00001
|
|
NM_001113378.2(FANCI):c.3721-1G>C
|
rs1173483373
|
0.00001
|
|
NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile)
|
rs1321885310
|
0.00001
|
|
NM_001113378.2(FANCI):c.3801T>G (p.Leu1267=)
|
rs993279086
|
0.00001
|
|
NM_001113378.2(FANCI):c.3809A>G (p.Lys1270Arg)
|
rs749287934
|
0.00001
|
|
NM_001113378.2(FANCI):c.3816+4A>G
|
rs575207637
|
0.00001
|
|
NM_001113378.2(FANCI):c.3834C>T (p.His1278=)
|
rs1450412741
|
0.00001
|
|
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys)
|
rs780404413
|
0.00001
|
|
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp)
|
rs749756525
|
0.00001
|
|
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)
|
rs561190476
|
0.00001
|
|
NM_001113378.2(FANCI):c.3924+16T>G
|
rs1260139637
|
0.00001
|
|
NM_001113378.2(FANCI):c.3924+3C>T
|
rs766430678
|
0.00001
|
|
NM_001113378.2(FANCI):c.3924G>C (p.Glu1308Asp)
|
rs760646851
|
0.00001
|
|
NM_001113378.2(FANCI):c.3925-10C>G
|
rs1308242761
|
0.00001
|
|
NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser)
|
rs1357711884
|
0.00001
|
|
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser)
|
rs754573704
|
0.00001
|
|
NM_001113378.2(FANCI):c.394A>G (p.Ile132Val)
|
rs749540937
|
0.00001
|
|
NM_001113378.2(FANCI):c.3954C>T (p.Asn1318=)
|
rs778130460
|
0.00001
|
|
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met)
|
rs916916820
|
0.00001
|
|
NM_001113378.2(FANCI):c.39A>T (p.Thr13=)
|
rs201981373
|
0.00001
|
|
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val)
|
rs768553208
|
0.00001
|
|
NM_001113378.2(FANCI):c.411G>A (p.Leu137=)
|
rs770909223
|
0.00001
|
|
NM_001113378.2(FANCI):c.416C>T (p.Thr139Met)
|
rs1161378135
|
0.00001
|
|
NM_001113378.2(FANCI):c.417G>A (p.Thr139=)
|
rs776382823
|
0.00001
|
|
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu)
|
rs1410323660
|
0.00001
|
|
NM_001113378.2(FANCI):c.445+13C>T
|
rs369924984
|
0.00001
|
|
NM_001113378.2(FANCI):c.446-19G>A
|
rs775410661
|
0.00001
|
|
NM_001113378.2(FANCI):c.475C>G (p.Gln159Glu)
|
rs765463274
|
0.00001
|
|
NM_001113378.2(FANCI):c.497C>G (p.Ser166Cys)
|
rs745789593
|
0.00001
|
|
NM_001113378.2(FANCI):c.504-3C>T
|
rs1457153041
|
0.00001
|
|
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)
|
rs771312042
|
0.00001
|
|
NM_001113378.2(FANCI):c.538A>T (p.Met180Leu)
|
rs1233794193
|
0.00001
|
|
NM_001113378.2(FANCI):c.546-6C>T
|
rs754929965
|
0.00001
|
|
NM_001113378.2(FANCI):c.558G>T (p.Leu186=)
|
rs746658213
|
0.00001
|
|
NM_001113378.2(FANCI):c.571G>A (p.Val191Met)
|
rs1296106146
|
0.00001
|
|
NM_001113378.2(FANCI):c.609C>T (p.Ser203=)
|
rs762005980
|
0.00001
|
|
NM_001113378.2(FANCI):c.614T>G (p.Met205Arg)
|
rs750520404
|
0.00001
|
|
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln)
|
rs752707646
|
0.00001
|
|
NM_001113378.2(FANCI):c.669+8T>C
|
rs942269232
|
0.00001
|
|
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val)
|
rs749779839
|
0.00001
|
|
NM_001113378.2(FANCI):c.735T>C (p.Asn245=)
|
rs1230412125
|
0.00001
|
|
NM_001113378.2(FANCI):c.755+11T>C
|
rs763895201
|
0.00001
|
|
NM_001113378.2(FANCI):c.794G>A (p.Arg265His)
|
rs375652309
|
0.00001
|
|
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val)
|
rs778263817
|
0.00001
|
|
NM_001113378.2(FANCI):c.837C>T (p.Ile279=)
|
rs2053064958
|
0.00001
|
|
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser)
|
rs575416245
|
0.00001
|
|
NM_001113378.2(FANCI):c.918T>G (p.Ser306Arg)
|
rs745623288
|
0.00001
|
|
NM_001113378.2(FANCI):c.924C>T (p.Phe308=)
|
rs1201490769
|
0.00001
|
|
NM_001113378.2(FANCI):c.925A>G (p.Ser309Gly)
|
rs1184166680
|
0.00001
|
|
NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser)
|
rs745341673
|
0.00001
|
|
NM_001113378.2(FANCI):c.955A>G (p.Ile319Val)
|
rs1451676691
|
0.00001
|
|
NM_001113378.2(FANCI):c.975+11A>T
|
rs759815521
|
0.00001
|
|
NM_001113378.2(FANCI):c.975+3A>G
|
rs773615217
|
0.00001
|
|
NM_001113378.2(FANCI):c.976-9A>G
|
rs1350162211
|
0.00001
|
|
NM_001113378.2(FANCI):c.999G>A (p.Ser333=)
|
rs367991076
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1047G>C
|
rs372364590
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1063G>A
|
rs766594215
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1218G>A
|
rs1339996571
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1220G>A
|
rs1445940471
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1228G>A
|
rs1206285832
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1311C>T
|
rs1392135704
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1738dup
|
rs755153673
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1739G>A
|
rs201323033
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1863G>A
|
rs374510260
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*473G>A
|
rs2062032586
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*883C>T
|
rs370080063
|
0.00001
|
|
NM_002049.4(GATA1):c.1029C>T (p.Ser343=)
|
rs1557020591
|
0.00001
|
|
NM_002049.4(GATA1):c.1232T>C (p.Leu411Pro)
|
rs1460124191
|
0.00001
|
|
NM_002049.4(GATA1):c.150G>A (p.Pro50=)
|
rs782678694
|
0.00001
|
|
NM_002049.4(GATA1):c.173C>T (p.Ala58Val)
|
rs782299679
|
0.00001
|
|
NM_002049.4(GATA1):c.192G>A (p.Arg64=)
|
rs781912832
|
0.00001
|
|
NM_002049.4(GATA1):c.216C>T (p.Ser72=)
|
rs1180375270
|
0.00001
|
|
NM_002049.4(GATA1):c.220+10T>C
|
rs782691816
|
0.00001
|
|
NM_002049.4(GATA1):c.221-4A>G
|
rs782150782
|
0.00001
|
|
NM_002049.4(GATA1):c.282C>T (p.Ala94=)
|
rs782123071
|
0.00001
|
|
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser)
|
rs782790256
|
0.00001
|
|
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys)
|
rs782263736
|
0.00001
|
|
NM_002049.4(GATA1):c.343G>T (p.Asp115Tyr)
|
rs914292956
|
0.00001
|
|
NM_002049.4(GATA1):c.373G>A (p.Asp125Asn)
|
rs782411113
|
0.00001
|
|
NM_002049.4(GATA1):c.397C>T (p.Leu133=)
|
rs1557020203
|
0.00001
|
|
NM_002049.4(GATA1):c.485C>T (p.Ala162Val)
|
rs1177167183
|
0.00001
|
|
NM_002049.4(GATA1):c.598+3G>A
|
rs782536159
|
0.00001
|
|
NM_002049.4(GATA1):c.599-13T>C
|
rs1557020294
|
0.00001
|
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
|
NM_002049.4(GATA1):c.64G>A (p.Ala22Thr)
|
rs782188059
|
0.00001
|
|
NM_002049.4(GATA1):c.727C>T (p.Arg243Trp)
|
rs782632688
|
0.00001
|
|
NM_002049.4(GATA1):c.798G>A (p.Thr266=)
|
rs184692721
|
0.00001
|
|
NM_002049.4(GATA1):c.889A>T (p.Met297Leu)
|
rs1569499699
|
0.00001
|
|
NM_002049.4(GATA1):c.949C>A (p.Arg317=)
|
rs781964937
|
0.00001
|
|
NM_004629.2(FANCG):c.1005C>T (p.Ala335=)
|
rs1243179658
|
0.00001
|
|
NM_004629.2(FANCG):c.1077-19A>T
|
rs771086628
|
0.00001
|
|
NM_004629.2(FANCG):c.1077G>A (p.Arg359=)
|
rs901079231
|
0.00001
|
|
NM_004629.2(FANCG):c.1086C>T (p.Asp362=)
|
rs376623996
|
0.00001
|
|
NM_004629.2(FANCG):c.1095G>A (p.Glu365=)
|
rs1587140720
|
0.00001
|
|
NM_004629.2(FANCG):c.1128T>C (p.Asp376=)
|
rs1428329520
|
0.00001
|
|
NM_004629.2(FANCG):c.1134G>A (p.Ser378=)
|
rs530574134
|
0.00001
|
|
NM_004629.2(FANCG):c.1144-9C>T
|
rs778217810
|
0.00001
|
|
NM_004629.2(FANCG):c.1162C>G (p.Pro388Ala)
|
rs1356114266
|
0.00001
|
|
NM_004629.2(FANCG):c.1188G>A (p.Val396=)
|
rs771715036
|
0.00001
|
|
NM_004629.2(FANCG):c.1189T>C (p.Phe397Leu)
|
rs1060501868
|
0.00001
|
|
NM_004629.2(FANCG):c.1203G>A (p.Ala401=)
|
rs770325434
|
0.00001
|
|
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser)
|
rs371171892
|
0.00001
|
|
NM_004629.2(FANCG):c.1233A>G (p.Gln411=)
|
rs371809395
|
0.00001
|
|
NM_004629.2(FANCG):c.124T>C (p.Leu42=)
|
rs775053536
|
0.00001
|
|
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys)
|
rs886063896
|
0.00001
|
|
NM_004629.2(FANCG):c.1268G>A (p.Arg423His)
|
rs757276792
|
0.00001
|
|
NM_004629.2(FANCG):c.1287C>T (p.Pro429=)
|
rs767253119
|
0.00001
|
|
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro)
|
rs748738986
|
0.00001
|
|
NM_004629.2(FANCG):c.1365C>G (p.Thr455=)
|
rs767385265
|
0.00001
|
|
NM_004629.2(FANCG):c.1422T>C (p.Ser474=)
|
rs144369518
|
0.00001
|
|
NM_004629.2(FANCG):c.1433+12G>A
|
rs201070684
|
0.00001
|
|
NM_004629.2(FANCG):c.1433+8C>T
|
rs772542885
|
0.00001
|
|
NM_004629.2(FANCG):c.1434-6C>T
|
rs1404150675
|
0.00001
|
|
NM_004629.2(FANCG):c.1437C>T (p.Cys479=)
|
rs904322133
|
0.00001
|
|
NM_004629.2(FANCG):c.1473A>G (p.Lys491=)
|
rs769921972
|
0.00001
|
|
NM_004629.2(FANCG):c.1481-4C>A
|
rs1829057884
|
0.00001
|
|
NM_004629.2(FANCG):c.1492A>C (p.Asn498His)
|
rs748364103
|
0.00001
|
|
NM_004629.2(FANCG):c.1497T>C (p.Cys499=)
|
rs1340517333
|
0.00001
|
|
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr)
|
rs373151602
|
0.00001
|
|
NM_004629.2(FANCG):c.1563A>G (p.Gly521=)
|
rs1240720328
|
0.00001
|
|
NM_004629.2(FANCG):c.1567G>C (p.Glu523Gln)
|
rs761993636
|
0.00001
|
|
NM_004629.2(FANCG):c.156G>C (p.Gly52=)
|
rs778234892
|
0.00001
|
|
NM_004629.2(FANCG):c.1575A>G (p.Val525=)
|
rs1340065874
|
0.00001
|
|
NM_004629.2(FANCG):c.1578C>T (p.Ala526=)
|
rs1060504371
|
0.00001
|
|
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)
|
rs767443643
|
0.00001
|
|
NM_004629.2(FANCG):c.158T>G (p.Leu53Arg)
|
rs756388446
|
0.00001
|
|
NM_004629.2(FANCG):c.1595A>G (p.Lys532Arg)
|
rs1587139402
|
0.00001
|
|
NM_004629.2(FANCG):c.1615C>G (p.Leu539Val)
|
rs1486862292
|
0.00001
|
|
NM_004629.2(FANCG):c.1617C>T (p.Leu539=)
|
rs1000355215
|
0.00001
|
|
NM_004629.2(FANCG):c.1626G>C (p.Gln542His)
|
rs1060501867
|
0.00001
|
|
NM_004629.2(FANCG):c.1637-2del
|
rs1224034435
|
0.00001
|
|
NM_004629.2(FANCG):c.1662G>A (p.Leu554=)
|
rs750982155
|
0.00001
|
|
NM_004629.2(FANCG):c.1687C>T (p.Arg563Trp)
|
rs754258080
|
0.00001
|
|
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln)
|
rs1309056736
|
0.00001
|
|
NM_004629.2(FANCG):c.175+1G>A
|
rs927868500
|
0.00001
|
|
NM_004629.2(FANCG):c.175+7G>A
|
rs1340619797
|
0.00001
|
|
NM_004629.2(FANCG):c.176G>A (p.Gly59Glu)
|
rs538555981
|
0.00001
|
|
NM_004629.2(FANCG):c.1806C>T (p.Pro602=)
|
rs756632525
|
0.00001
|
|
NM_004629.2(FANCG):c.1814G>A (p.Arg605His)
|
rs751710424
|
0.00001
|
|
NM_004629.2(FANCG):c.1815T>C (p.Arg605=)
|
rs1455440698
|
0.00001
|
|
NM_004629.2(FANCG):c.1818C>T (p.Asp606=)
|
rs766524415
|
0.00001
|
|
NM_004629.2(FANCG):c.282G>A (p.Gln94=)
|
rs1373739426
|
0.00001
|
|
NM_004629.2(FANCG):c.308-11A>G
|
rs371822998
|
0.00001
|
|
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)
|
rs121434425
|
0.00001
|
|
NM_004629.2(FANCG):c.338G>A (p.Arg113Lys)
|
rs778894219
|
0.00001
|
|
NM_004629.2(FANCG):c.387C>T (p.Ser129=)
|
rs1419629240
|
0.00001
|
|
NM_004629.2(FANCG):c.423C>A (p.Arg141=)
|
rs1829121800
|
0.00001
|
|
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys)
|
rs200926249
|
0.00001
|
|
NM_004629.2(FANCG):c.495C>G (p.Thr165=)
|
rs1829120053
|
0.00001
|
|
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser)
|
rs749946550
|
0.00001
|
|
NM_004629.2(FANCG):c.549T>C (p.Thr183=)
|
rs1163330730
|
0.00001
|
|
NM_004629.2(FANCG):c.564T>C (p.Ala188=)
|
rs1015283839
|
0.00001
|
|
NM_004629.2(FANCG):c.634G>A (p.Ala212Thr)
|
rs775291829
|
0.00001
|
|
NM_004629.2(FANCG):c.646+5G>A
|
rs1453133047
|
0.00001
|
|
NM_004629.2(FANCG):c.646+9G>A
|
rs1829102198
|
0.00001
|
|
NM_004629.2(FANCG):c.647-15C>A
|
rs764036260
|
0.00001
|
|
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter)
|
rs1209807088
|
0.00001
|
|
NM_004629.2(FANCG):c.654G>A (p.Gln218=)
|
rs1260636663
|
0.00001
|
|
NM_004629.2(FANCG):c.678C>T (p.Asp226=)
|
rs1187334238
|
0.00001
|
|
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)
|
rs765095688
|
0.00001
|
|
NM_004629.2(FANCG):c.6C>T (p.Ser2=)
|
rs774139167
|
0.00001
|
|
NM_004629.2(FANCG):c.73C>G (p.Arg25Gly)
|
rs752839554
|
0.00001
|
|
NM_004629.2(FANCG):c.747C>T (p.Tyr249=)
|
rs1043957
|
0.00001
|
|
NM_004629.2(FANCG):c.774G>A (p.Lys258=)
|
rs1159014432
|
0.00001
|
|
NM_004629.2(FANCG):c.777+8C>G
|
rs367809061
|
0.00001
|
|
NM_004629.2(FANCG):c.778-20G>T
|
rs749563301
|
0.00001
|
|
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)
|
rs149721361
|
0.00001
|
|
NM_004629.2(FANCG):c.84+9G>T
|
rs759504806
|
0.00001
|
|
NM_004629.2(FANCG):c.840T>C (p.Gly280=)
|
rs778142751
|
0.00001
|
|
NM_004629.2(FANCG):c.85-19C>T
|
rs1028747262
|
0.00001
|
|
NM_004629.2(FANCG):c.85-2A>T
|
rs759590778
|
0.00001
|
|
NM_004629.2(FANCG):c.85-8T>C
|
rs767607055
|
0.00001
|
|
NM_004629.2(FANCG):c.8G>T (p.Arg3Leu)
|
rs770674344
|
0.00001
|
|
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)
|
rs61757386
|
0.00001
|
|
NM_004629.2(FANCG):c.924+3A>G
|
rs1338383222
|
0.00001
|
|
NM_004629.2(FANCG):c.925-6T>C
|
rs768761780
|
0.00001
|
|
NM_004629.2(FANCG):c.933_938dup (p.Val312_Pro313dup)
|
rs1199832786
|
0.00001
|
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
|
NM_004629.2(FANCG):c.999C>T (p.Asp333=)
|
rs762238437
|
0.00001
|
|
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr)
|
rs1458037304
|
0.00001
|
|
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu)
|
rs765535723
|
0.00001
|
|
NM_005236.3(ERCC4):c.1102+1G>T
|
rs1314323456
|
0.00001
|
|
NM_005236.3(ERCC4):c.1102+7T>A
|
rs766826151
|
0.00001
|
|
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn)
|
rs774643449
|
0.00001
|
|
NM_005236.3(ERCC4):c.1116A>G (p.Glu372=)
|
rs760060914
|
0.00001
|
|
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg)
|
rs751348446
|
0.00001
|
|
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser)
|
rs767454772
|
0.00001
|
|
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=)
|
rs752193295
|
0.00001
|
|
NM_005236.3(ERCC4):c.1214-4T>G
|
rs2032257283
|
0.00001
|
|
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)
|
rs762147159
|
0.00001
|
|
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)
|
rs751095195
|
0.00001
|
|
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)
|
rs767138486
|
0.00001
|
|
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)
|
rs762738968
|
0.00001
|
|
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly)
|
rs752379459
|
0.00001
|
|
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val)
|
rs767408205
|
0.00001
|
|
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys)
|
rs1473430382
|
0.00001
|
|
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg)
|
rs1001540758
|
0.00001
|
|
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr)
|
rs368559924
|
0.00001
|
|
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser)
|
rs1298488189
|
0.00001
|
|
NM_005236.3(ERCC4):c.1347C>A (p.Val449=)
|
rs1352012558
|
0.00001
|
|
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg)
|
rs759312308
|
0.00001
|
|
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys)
|
rs757860762
|
0.00001
|
|
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His)
|
rs766111215
|
0.00001
|
|
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=)
|
rs768020598
|
0.00001
|
|
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp)
|
rs779170299
|
0.00001
|
|
NM_005236.3(ERCC4):c.15G>A (p.Gln5=)
|
rs748509102
|
0.00001
|
|
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=)
|
rs1002156756
|
0.00001
|
|
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile)
|
rs549865610
|
0.00001
|
|
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)
|
rs397509404
|
0.00001
|
|
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)
|
rs751782722
|
0.00001
|
|
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg)
|
rs749814308
|
0.00001
|
|
NM_005236.3(ERCC4):c.1899C>G (p.Leu633=)
|
rs954215121
|
0.00001
|
|
NM_005236.3(ERCC4):c.1905-7C>G
|
rs1459073174
|
0.00001
|
|
NM_005236.3(ERCC4):c.1971A>G (p.Val657=)
|
rs993218238
|
0.00001
|
|
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser)
|
rs753506602
|
0.00001
|
|
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp)
|
rs756811179
|
0.00001
|
|
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile)
|
rs779366136
|
0.00001
|
|
NM_005236.3(ERCC4):c.2017+3G>A
|
rs1596634140
|
0.00001
|
|
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys)
|
rs772728961
|
0.00001
|
|
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)
|
rs2020959
|
0.00001
|
|
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=)
|
rs769731155
|
0.00001
|
|
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys)
|
rs777184889
|
0.00001
|
|
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)
|
rs1255618541
|
0.00001
|
|
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)
|
rs372425414
|
0.00001
|
|
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser)
|
rs753924297
|
0.00001
|
|
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=)
|
rs1477890575
|
0.00001
|
|
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys)
|
rs535728795
|
0.00001
|
|
NM_005236.3(ERCC4):c.228G>A (p.Leu76=)
|
rs61760162
|
0.00001
|
|
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu)
|
rs765712858
|
0.00001
|
|
NM_005236.3(ERCC4):c.2421T>C (p.His807=)
|
rs1387272253
|
0.00001
|
|
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=)
|
rs1295720869
|
0.00001
|
|
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu)
|
rs774635437
|
0.00001
|
|
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr)
|
rs138583819
|
0.00001
|
|
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)
|
rs377562755
|
0.00001
|
|
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)
|
rs749822053
|
0.00001
|
|
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys)
|
rs587778284
|
0.00001
|
|
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys)
|
rs191886782
|
0.00001
|
|
NM_005236.3(ERCC4):c.2646C>T (p.Asp882=)
|
rs538267970
|
0.00001
|
|
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys)
|
rs2032564211
|
0.00001
|
|
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu)
|
rs2020956
|
0.00001
|
|
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val)
|
rs767586458
|
0.00001
|
|
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)
|
rs753596005
|
0.00001
|
|
NM_005236.3(ERCC4):c.376G>C (p.Asp126His)
|
rs1192940719
|
0.00001
|
|
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu)
|
rs754622238
|
0.00001
|
|
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys)
|
rs145402255
|
0.00001
|
|
NM_005236.3(ERCC4):c.541G>A (p.Val181Met)
|
rs750673145
|
0.00001
|
|
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu)
|
rs748499820
|
0.00001
|
|
NM_005236.3(ERCC4):c.718C>T (p.Leu240=)
|
rs746904084
|
0.00001
|
|
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu)
|
rs370864937
|
0.00001
|
|
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu)
|
rs765111229
|
0.00001
|
|
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile)
|
rs1265753536
|
0.00001
|
|
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met)
|
rs746106147
|
0.00001
|
|
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro)
|
rs2032156137
|
0.00001
|
|
NM_005236.3(ERCC4):c.840G>A (p.Lys280=)
|
rs886051659
|
0.00001
|
|
NM_005236.3(ERCC4):c.924T>C (p.Asn308=)
|
rs1408777193
|
0.00001
|
|
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met)
|
rs1340754747
|
0.00001
|
|
NM_005236.3(ERCC4):c.948G>A (p.Thr316=)
|
rs770736492
|
0.00001
|
|
NM_005236.3(ERCC4):c.974-17T>C
|
rs2032183635
|
0.00001
|
|
NM_018062.4(FANCL):c.1033C>T (p.Leu345=)
|
rs929280865
|
0.00001
|
|
NM_018062.4(FANCL):c.1065A>G (p.Ile355Met)
|
rs147860433
|
0.00001
|
|
NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys)
|
rs773869051
|
0.00001
|
|
NM_018062.4(FANCL):c.1092+18C>A
|
rs373854636
|
0.00001
|
|
NM_018062.4(FANCL):c.1092+8A>G
|
rs1337458150
|
0.00001
|
|
NM_018062.4(FANCL):c.1093-19_1093-9dup
|
rs771654902
|
0.00001
|
|
NM_018062.4(FANCL):c.1093-34_1093-16del
|
rs760337641
|
0.00001
|
|
NM_018062.4(FANCL):c.117G>A (p.Arg39=)
|
rs774840155
|
0.00001
|
|
NM_018062.4(FANCL):c.121G>T (p.Val41Leu)
|
rs763523035
|
0.00001
|
|
NM_018062.4(FANCL):c.129T>G (p.Pro43=)
|
rs746046267
|
0.00001
|
|
NM_018062.4(FANCL):c.155+4A>G
|
rs1264877990
|
0.00001
|
|
NM_018062.4(FANCL):c.173A>G (p.Gln58Arg)
|
rs1363031365
|
0.00001
|
|
NM_018062.4(FANCL):c.182C>G (p.Thr61Arg)
|
rs1315405264
|
0.00001
|
|
NM_018062.4(FANCL):c.18G>C (p.Ala6=)
|
rs759021953
|
0.00001
|
|
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys)
|
rs200306031
|
0.00001
|
|
NM_018062.4(FANCL):c.1A>T (p.Met1Leu)
|
rs772037896
|
0.00001
|
|
NM_018062.4(FANCL):c.216+1G>T
|
rs1205006300
|
0.00001
|
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
|
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly)
|
rs146690827
|
0.00001
|
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
|
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu)
|
rs746623168
|
0.00001
|
|
NM_018062.4(FANCL):c.319C>T (p.Pro107Ser)
|
rs754028115
|
0.00001
|
|
NM_018062.4(FANCL):c.332A>G (p.Tyr111Cys)
|
rs757683704
|
0.00001
|
|
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr)
|
rs1060501895
|
0.00001
|
|
NM_018062.4(FANCL):c.354A>G (p.Ile118Met)
|
rs1371125510
|
0.00001
|
|
NM_018062.4(FANCL):c.355G>A (p.Gly119Arg)
|
rs764393410
|
0.00001
|
|
NM_018062.4(FANCL):c.36C>T (p.Cys12=)
|
rs756487177
|
0.00001
|
|
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu)
|
rs1032497636
|
0.00001
|
|
NM_018062.4(FANCL):c.381G>T (p.Val127=)
|
rs1198509820
|
0.00001
|
|
NM_018062.4(FANCL):c.386C>T (p.Ala129Val)
|
rs771495568
|
0.00001
|
|
NM_018062.4(FANCL):c.394T>C (p.Cys132Arg)
|
rs748298862
|
0.00001
|
|
NM_018062.4(FANCL):c.39C>T (p.Pro13=)
|
rs201708705
|
0.00001
|
|
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)
|
rs377429618
|
0.00001
|
|
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro)
|
rs1694519859
|
0.00001
|
|
NM_018062.4(FANCL):c.471+11C>T
|
rs373493158
|
0.00001
|
|
NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp)
|
rs749411866
|
0.00001
|
|
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg)
|
rs770063294
|
0.00001
|
|
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg)
|
rs773768206
|
0.00001
|
|
NM_018062.4(FANCL):c.525C>T (p.Ala175=)
|
rs757892335
|
0.00001
|
|
NM_018062.4(FANCL):c.541-3C>T
|
rs759711454
|
0.00001
|
|
NM_018062.4(FANCL):c.554G>C (p.Ser185Thr)
|
rs560205327
|
0.00001
|
|
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)
|
rs1191111879
|
0.00001
|
|
NM_018062.4(FANCL):c.588A>T (p.Ser196=)
|
rs1205526780
|
0.00001
|
|
NM_018062.4(FANCL):c.589C>T (p.Leu197=)
|
rs779745877
|
0.00001
|
|
NM_018062.4(FANCL):c.598T>A (p.Phe200Ile)
|
rs199660431
|
0.00001
|
|
NM_018062.4(FANCL):c.611T>C (p.Met204Thr)
|
rs368900762
|
0.00001
|
|
NM_018062.4(FANCL):c.621C>T (p.Ile207=)
|
rs374195602
|
0.00001
|
|
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe)
|
rs765926796
|
0.00001
|
|
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln)
|
rs761742545
|
0.00001
|
|
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)
|
rs778068203
|
0.00001
|
|
NM_018062.4(FANCL):c.691+3A>G
|
rs1159902512
|
0.00001
|
|
NM_018062.4(FANCL):c.692-17A>G
|
rs1281803537
|
0.00001
|
|
NM_018062.4(FANCL):c.692-2A>G
|
rs1558737575
|
0.00001
|
|
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp)
|
rs1558737546
|
0.00001
|
|
NM_018062.4(FANCL):c.6G>A (p.Ala2=)
|
rs781559042
|
0.00001
|
|
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe)
|
rs1202806362
|
0.00001
|
|
NM_018062.4(FANCL):c.750G>A (p.Glu250=)
|
rs1337676826
|
0.00001
|
|
NM_018062.4(FANCL):c.775+3A>T
|
rs975755966
|
0.00001
|
|
NM_018062.4(FANCL):c.804C>T (p.Ser268=)
|
rs1327227877
|
0.00001
|
|
NM_018062.4(FANCL):c.822-15T>C
|
rs1282819073
|
0.00001
|
|
NM_018062.4(FANCL):c.860T>G (p.Val287Gly)
|
rs61757387
|
0.00001
|
|
NM_018062.4(FANCL):c.879A>T (p.Pro293=)
|
rs1217731968
|
0.00001
|
|
NM_018062.4(FANCL):c.881C>T (p.Ala294Val)
|
rs756695293
|
0.00001
|
|
NM_018062.4(FANCL):c.884G>A (p.Arg295His)
|
rs375526911
|
0.00001
|
|
NM_018062.4(FANCL):c.894G>T (p.Leu298=)
|
rs373364584
|
0.00001
|
|
NM_018062.4(FANCL):c.903+10A>G
|
rs779834767
|
0.00001
|
|
NM_018062.4(FANCL):c.918T>C (p.Asp306=)
|
rs1060504376
|
0.00001
|
|
NM_018062.4(FANCL):c.96+10C>T
|
rs184741617
|
0.00001
|
|
NM_018062.4(FANCL):c.96+3A>T
|
rs764782273
|
0.00001
|
|
NM_018062.4(FANCL):c.993A>G (p.Gln331=)
|
rs777378352
|
0.00001
|
|
NM_020937.4(FANCM):c.1021T>C (p.Phe341Leu)
|
rs1282418362
|
0.00001
|
|
NM_020937.4(FANCM):c.1032C>A (p.Asn344Lys)
|
rs757823478
|
0.00001
|
|
NM_020937.4(FANCM):c.1035A>G (p.Pro345=)
|
rs779231612
|
0.00001
|
|
NM_020937.4(FANCM):c.105T>C (p.Pro35=)
|
rs1190089439
|
0.00001
|
|
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter)
|
rs1156577591
|
0.00001
|
|
NM_020937.4(FANCM):c.106G>A (p.Gly36Ser)
|
rs1416346759
|
0.00001
|
|
NM_020937.4(FANCM):c.1071C>T (p.Ile357=)
|
rs780333012
|
0.00001
|
|
NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys)
|
rs746643140
|
0.00001
|
|
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly)
|
rs762845761
|
0.00001
|
|
NM_020937.4(FANCM):c.111C>T (p.Ser37=)
|
rs763486658
|
0.00001
|
|
NM_020937.4(FANCM):c.1142C>T (p.Ser381Leu)
|
rs765686151
|
0.00001
|
|
NM_020937.4(FANCM):c.1143A>G (p.Ser381=)
|
rs750921743
|
0.00001
|
|
NM_020937.4(FANCM):c.114C>G (p.Ser38=)
|
rs761652077
|
0.00001
|
|
NM_020937.4(FANCM):c.1178C>T (p.Thr393Ile)
|
rs1029198668
|
0.00001
|
|
NM_020937.4(FANCM):c.117G>A (p.Lys39=)
|
rs765275634
|
0.00001
|
|
NM_020937.4(FANCM):c.1183+8A>G
|
rs538172189
|
0.00001
|
|
NM_020937.4(FANCM):c.1184-20C>A
|
rs763504552
|
0.00001
|
|
NM_020937.4(FANCM):c.119C>G (p.Ala40Gly)
|
rs750184645
|
0.00001
|
|
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter)
|
rs1034818403
|
0.00001
|
|
NM_020937.4(FANCM):c.1251G>A (p.Glu417=)
|
rs1238085525
|
0.00001
|
|
NM_020937.4(FANCM):c.1264C>T (p.Arg422Cys)
|
rs150574630
|
0.00001
|
|
NM_020937.4(FANCM):c.1271G>A (p.Arg424His)
|
rs139726733
|
0.00001
|
|
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr)
|
rs763653491
|
0.00001
|
|
NM_020937.4(FANCM):c.1353G>T (p.Lys451Asn)
|
rs771239660
|
0.00001
|
|
NM_020937.4(FANCM):c.1393A>T (p.Asn465Tyr)
|
rs776166350
|
0.00001
|
|
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser)
|
rs747572587
|
0.00001
|
|
NM_020937.4(FANCM):c.1397-1G>T
|
rs1887394029
|
0.00001
|
|
NM_020937.4(FANCM):c.1397-20G>A
|
rs767201661
|
0.00001
|
|
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys)
|
rs543029493
|
0.00001
|
|
NM_020937.4(FANCM):c.1439T>C (p.Met480Thr)
|
rs776804525
|
0.00001
|
|
NM_020937.4(FANCM):c.1440G>C (p.Met480Ile)
|
rs893380700
|
0.00001
|
|
NM_020937.4(FANCM):c.1462A>G (p.Ser488Gly)
|
rs374988842
|
0.00001
|
|
NM_020937.4(FANCM):c.1493A>G (p.Gln498Arg)
|
rs541543025
|
0.00001
|
|
NM_020937.4(FANCM):c.1509T>G (p.Ile503Met)
|
rs764033368
|
0.00001
|
|
NM_020937.4(FANCM):c.1516A>G (p.Met506Val)
|
rs758763305
|
0.00001
|
|
NM_020937.4(FANCM):c.1527C>T (p.Val509=)
|
rs1199608395
|
0.00001
|
|
NM_020937.4(FANCM):c.1530C>T (p.Gly510=)
|
rs367951081
|
0.00001
|
|
NM_020937.4(FANCM):c.1563C>G (p.Thr521=)
|
rs775472302
|
0.00001
|
|
NM_020937.4(FANCM):c.1566G>T (p.Gln522His)
|
rs763980494
|
0.00001
|
|
NM_020937.4(FANCM):c.1581+17T>C
|
rs1276397814
|
0.00001
|
|
NM_020937.4(FANCM):c.1598G>A (p.Arg533His)
|
rs1183879113
|
0.00001
|
|
NM_020937.4(FANCM):c.15A>G (p.Gln5=)
|
rs374315790
|
0.00001
|
|
NM_020937.4(FANCM):c.1600G>A (p.Asp534Asn)
|
rs1392286222
|
0.00001
|
|
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp)
|
rs201076487
|
0.00001
|
|
NM_020937.4(FANCM):c.1616C>T (p.Thr539Met)
|
rs758046969
|
0.00001
|
|
NM_020937.4(FANCM):c.1654A>G (p.Ile552Val)
|
rs1416236626
|
0.00001
|
|
NM_020937.4(FANCM):c.1655T>C (p.Ile552Thr)
|
rs200240871
|
0.00001
|
|
NM_020937.4(FANCM):c.1703T>C (p.Ile568Thr)
|
rs764204806
|
0.00001
|
|
NM_020937.4(FANCM):c.1708C>T (p.Leu570Phe)
|
rs1473955115
|
0.00001
|
|
NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter)
|
rs140760056
|
0.00001
|
|
NM_020937.4(FANCM):c.1735C>T (p.Arg579Cys)
|
rs149698772
|
0.00001
|
|
NM_020937.4(FANCM):c.1753A>G (p.Ile585Val)
|
rs772284228
|
0.00001
|
|
NM_020937.4(FANCM):c.1765C>T (p.Leu589Phe)
|
rs764151493
|
0.00001
|
|
NM_020937.4(FANCM):c.1786C>T (p.Arg596Cys)
|
rs765671208
|
0.00001
|
|
NM_020937.4(FANCM):c.1788+10G>C
|
rs1203353298
|
0.00001
|
|
NM_020937.4(FANCM):c.1789-14A>G
|
rs980289508
|
0.00001
|
|
NM_020937.4(FANCM):c.1805A>G (p.Gln602Arg)
|
rs1343909660
|
0.00001
|
|
NM_020937.4(FANCM):c.1845C>T (p.Asn615=)
|
rs770287146
|
0.00001
|
|
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly)
|
rs763557682
|
0.00001
|
|
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)
|
rs374626826
|
0.00001
|
|
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu)
|
rs757274359
|
0.00001
|
|
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser)
|
rs1015238529
|
0.00001
|
|
NM_020937.4(FANCM):c.1941T>C (p.Tyr647=)
|
rs1280545288
|
0.00001
|
|
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys)
|
rs763357840
|
0.00001
|
|
NM_020937.4(FANCM):c.1949A>C (p.Glu650Ala)
|
rs771567101
|
0.00001
|
|
NM_020937.4(FANCM):c.1959T>C (p.Ser653=)
|
rs760000633
|
0.00001
|
|
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter)
|
rs903442271
|
0.00001
|
|
NM_020937.4(FANCM):c.1974A>C (p.Arg658=)
|
rs1888039482
|
0.00001
|
|
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys)
|
rs148250143
|
0.00001
|
|
NM_020937.4(FANCM):c.2002+19T>C
|
rs748316001
|
0.00001
|
|
NM_020937.4(FANCM):c.2002+5A>G
|
rs1888042696
|
0.00001
|
|
NM_020937.4(FANCM):c.2003-16T>C
|
rs750329568
|
0.00001
|
|
NM_020937.4(FANCM):c.2003-7C>T
|
rs758398053
|
0.00001
|
|
NM_020937.4(FANCM):c.2005A>T (p.Met669Leu)
|
rs1888274673
|
0.00001
|
|
NM_020937.4(FANCM):c.201G>T (p.Gln67His)
|
rs761398438
|
0.00001
|
|
NM_020937.4(FANCM):c.2066A>G (p.Asn689Ser)
|
rs1317308859
|
0.00001
|
|
NM_020937.4(FANCM):c.2073T>G (p.Leu691=)
|
rs534278963
|
0.00001
|
|
NM_020937.4(FANCM):c.2079A>G (p.Arg693=)
|
rs747434711
|
0.00001
|
|
NM_020937.4(FANCM):c.2096A>G (p.Glu699Gly)
|
rs991105099
|
0.00001
|
|
NM_020937.4(FANCM):c.2163T>G (p.Ala721=)
|
rs781479852
|
0.00001
|
|
NM_020937.4(FANCM):c.2177C>T (p.Thr726Ile)
|
rs1171394901
|
0.00001
|
|
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg)
|
rs765227168
|
0.00001
|
|
NM_020937.4(FANCM):c.2215T>C (p.Trp739Arg)
|
rs1407263617
|
0.00001
|
|
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala)
|
rs764033302
|
0.00001
|
|
NM_020937.4(FANCM):c.2244A>G (p.Gln748=)
|
rs751605791
|
0.00001
|
|
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln)
|
rs529256568
|
0.00001
|
|
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys)
|
rs756870111
|
0.00001
|
|
NM_020937.4(FANCM):c.2275A>G (p.Ile759Val)
|
rs1431873616
|
0.00001
|
|
NM_020937.4(FANCM):c.2316+12T>C
|
rs764384464
|
0.00001
|
|
NM_020937.4(FANCM):c.2317-5T>C
|
rs370111392
|
0.00001
|
|
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala)
|
rs149856496
|
0.00001
|
|
NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr)
|
rs753797551
|
0.00001
|
|
NM_020937.4(FANCM):c.235G>C (p.Ala79Pro)
|
rs1885491442
|
0.00001
|
|
NM_020937.4(FANCM):c.2361G>A (p.Met787Ile)
|
rs201921949
|
0.00001
|
|
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met)
|
rs769468991
|
0.00001
|
|
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala)
|
rs144771929
|
0.00001
|
|
NM_020937.4(FANCM):c.2392A>G (p.Arg798Gly)
|
rs772286894
|
0.00001
|
|
NM_020937.4(FANCM):c.2406T>C (p.Asn802=)
|
rs1231624693
|
0.00001
|
|
NM_020937.4(FANCM):c.2423C>T (p.Thr808Ile)
|
rs200194850
|
0.00001
|
|
NM_020937.4(FANCM):c.244C>T (p.Leu82=)
|
rs746349291
|
0.00001
|
|
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp)
|
rs765507230
|
0.00001
|
|
NM_020937.4(FANCM):c.246G>A (p.Leu82=)
|
rs1885493418
|
0.00001
|
|
NM_020937.4(FANCM):c.2485G>T (p.Val829Leu)
|
rs754426327
|
0.00001
|
|
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter)
|
rs1383262366
|
0.00001
|
|
NM_020937.4(FANCM):c.2595G>A (p.Gln865=)
|
rs1280478322
|
0.00001
|
|
NM_020937.4(FANCM):c.2602A>G (p.Lys868Glu)
|
rs770342366
|
0.00001
|
|
NM_020937.4(FANCM):c.2608A>G (p.Asn870Asp)
|
rs1453998176
|
0.00001
|
|
NM_020937.4(FANCM):c.2613T>G (p.Asn871Lys)
|
rs1453404140
|
0.00001
|
|
NM_020937.4(FANCM):c.2616C>T (p.His872=)
|
rs372803974
|
0.00001
|
|
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val)
|
rs766902093
|
0.00001
|
|
NM_020937.4(FANCM):c.2621T>C (p.Ile874Thr)
|
rs774139592
|
0.00001
|
|
NM_020937.4(FANCM):c.2635G>C (p.Asp879His)
|
rs375959944
|
0.00001
|
|
NM_020937.4(FANCM):c.2653A>G (p.Thr885Ala)
|
rs1182429346
|
0.00001
|
|
NM_020937.4(FANCM):c.2672A>C (p.Gln891Pro)
|
rs753820999
|
0.00001
|
|
NM_020937.4(FANCM):c.2692A>G (p.Lys898Glu)
|
rs747219710
|
0.00001
|
|
NM_020937.4(FANCM):c.2696G>A (p.Arg899Lys)
|
rs755241883
|
0.00001
|
|
NM_020937.4(FANCM):c.2700A>G (p.Thr900=)
|
rs1594798013
|
0.00001
|
|
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val)
|
rs770155583
|
0.00001
|
|
NM_020937.4(FANCM):c.2715A>G (p.Glu905=)
|
rs1230956702
|
0.00001
|
|
NM_020937.4(FANCM):c.2721T>G (p.Ala907=)
|
rs150172333
|
0.00001
|
|
NM_020937.4(FANCM):c.2725A>G (p.Thr909Ala)
|
rs1475086312
|
0.00001
|
|
NM_020937.4(FANCM):c.2745T>C (p.Asn915=)
|
rs915093857
|
0.00001
|
|
NM_020937.4(FANCM):c.2750T>C (p.Ile917Thr)
|
rs753772148
|
0.00001
|
|
NM_020937.4(FANCM):c.2752A>G (p.Lys918Glu)
|
rs757244993
|
0.00001
|
|
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys)
|
rs184770388
|
0.00001
|
|
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu)
|
rs776256629
|
0.00001
|
|
NM_020937.4(FANCM):c.275G>A (p.Arg92Gln)
|
rs1885496616
|
0.00001
|
|
NM_020937.4(FANCM):c.2774C>T (p.Thr925Ile)
|
rs1227468338
|
0.00001
|
|
NM_020937.4(FANCM):c.2791A>G (p.Asn931Asp)
|
rs142798313
|
0.00001
|
|
NM_020937.4(FANCM):c.2799C>T (p.Ser933=)
|
rs1292603050
|
0.00001
|
|
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu)
|
rs1594798166
|
0.00001
|
|
NM_020937.4(FANCM):c.281A>G (p.Tyr94Cys)
|
rs1352722928
|
0.00001
|
|
NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs)
|
rs1888623566
|
0.00001
|
|
NM_020937.4(FANCM):c.2834G>A (p.Gly945Asp)
|
rs1193165722
|
0.00001
|
|
NM_020937.4(FANCM):c.2843G>A (p.Ser948Asn)
|
rs1040437114
|
0.00001
|
|
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser)
|
rs775175323
|
0.00001
|
|
NM_020937.4(FANCM):c.2852A>G (p.Asp951Gly)
|
rs760309916
|
0.00001
|
|
NM_020937.4(FANCM):c.2856A>G (p.Glu952=)
|
rs1366592524
|
0.00001
|
|
NM_020937.4(FANCM):c.286C>T (p.Leu96=)
|
rs1412746996
|
0.00001
|
|
NM_020937.4(FANCM):c.2871_2876del (p.Asn958_Leu959del)
|
rs1888628927
|
0.00001
|
|
NM_020937.4(FANCM):c.2881C>T (p.Leu961Phe)
|
rs1319257761
|
0.00001
|
|
NM_020937.4(FANCM):c.2898G>A (p.Glu966=)
|
rs146050453
|
0.00001
|
|
NM_020937.4(FANCM):c.2922C>G (p.Asp974Glu)
|
rs1888633712
|
0.00001
|
|
NM_020937.4(FANCM):c.2937T>C (p.Cys979=)
|
rs1188507113
|
0.00001
|
|
NM_020937.4(FANCM):c.2962G>A (p.Ala988Thr)
|
rs1454000944
|
0.00001
|
|
NM_020937.4(FANCM):c.2988T>C (p.Tyr996=)
|
rs373971974
|
0.00001
|
|
NM_020937.4(FANCM):c.298C>G (p.Arg100Gly)
|
rs1438436722
|
0.00001
|
|
NM_020937.4(FANCM):c.298C>T (p.Arg100Trp)
|
rs1438436722
|
0.00001
|
|
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg)
|
rs751314954
|
0.00001
|
|
NM_020937.4(FANCM):c.3003C>T (p.Leu1001=)
|
rs1177034125
|
0.00001
|
|
NM_020937.4(FANCM):c.3023A>C (p.Glu1008Ala)
|
rs1420000591
|
0.00001
|
|
NM_020937.4(FANCM):c.3048A>C (p.Ala1016=)
|
rs1024727528
|
0.00001
|
|
NM_020937.4(FANCM):c.3074G>A (p.Cys1025Tyr)
|
rs908243528
|
0.00001
|
|
NM_020937.4(FANCM):c.3081G>A (p.Glu1027=)
|
rs770803476
|
0.00001
|
|
NM_020937.4(FANCM):c.314G>T (p.Cys105Phe)
|
rs955997534
|
0.00001
|
|
NM_020937.4(FANCM):c.3150A>G (p.Glu1050=)
|
rs1311277085
|
0.00001
|
|
NM_020937.4(FANCM):c.315C>T (p.Cys105=)
|
rs371888194
|
0.00001
|
|
NM_020937.4(FANCM):c.3175T>C (p.Tyr1059His)
|
rs755723099
|
0.00001
|
|
NM_020937.4(FANCM):c.3176A>T (p.Tyr1059Phe)
|
rs1888656410
|
0.00001
|
|
NM_020937.4(FANCM):c.3193T>G (p.Cys1065Gly)
|
rs201836469
|
0.00001
|
|
NM_020937.4(FANCM):c.3212A>G (p.Asn1071Ser)
|
rs1297760447
|
0.00001
|
|
NM_020937.4(FANCM):c.3276A>G (p.Glu1092=)
|
rs1042757360
|
0.00001
|
|
NM_020937.4(FANCM):c.3293A>G (p.Asn1098Ser)
|
rs372995836
|
0.00001
|
|
NM_020937.4(FANCM):c.3295C>T (p.Arg1099Cys)
|
rs767815301
|
0.00001
|
|
NM_020937.4(FANCM):c.3308A>C (p.His1103Pro)
|
rs191339110
|
0.00001
|
|
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala)
|
rs376798467
|
0.00001
|
|
NM_020937.4(FANCM):c.3363T>G (p.Ser1121Arg)
|
rs746805378
|
0.00001
|
|
NM_020937.4(FANCM):c.3417T>C (p.Asp1139=)
|
rs759993342
|
0.00001
|
|
NM_020937.4(FANCM):c.3435C>T (p.Asp1145=)
|
rs760913813
|
0.00001
|
|
NM_020937.4(FANCM):c.343C>T (p.Leu115=)
|
rs1200564694
|
0.00001
|
|
NM_020937.4(FANCM):c.3441G>A (p.Val1147=)
|
rs371637649
|
0.00001
|
|
NM_020937.4(FANCM):c.3468C>G (p.Ser1156Arg)
|
rs756947100
|
0.00001
|
|
NM_020937.4(FANCM):c.3476T>C (p.Leu1159Ser)
|
rs1045206208
|
0.00001
|
|
NM_020937.4(FANCM):c.3510G>A (p.Thr1170=)
|
rs749416896
|
0.00001
|
|
NM_020937.4(FANCM):c.3550T>G (p.Leu1184Val)
|
rs1331676656
|
0.00001
|
|
NM_020937.4(FANCM):c.3573A>G (p.Gln1191=)
|
rs1307778741
|
0.00001
|
|
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His)
|
rs751441742
|
0.00001
|
|
NM_020937.4(FANCM):c.3593C>G (p.Ala1198Gly)
|
rs754961557
|
0.00001
|
|
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His)
|
rs867324948
|
0.00001
|
|
NM_020937.4(FANCM):c.364G>T (p.Ala122Ser)
|
rs1885507119
|
0.00001
|
|
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe)
|
rs201839320
|
0.00001
|
|
NM_020937.4(FANCM):c.3667T>G (p.Cys1223Gly)
|
rs1888703962
|
0.00001
|
|
NM_020937.4(FANCM):c.366C>G (p.Ala122=)
|
rs770311755
|
0.00001
|
|
NM_020937.4(FANCM):c.3704G>T (p.Gly1235Val)
|
rs146490925
|
0.00001
|
|
NM_020937.4(FANCM):c.3705A>G (p.Gly1235=)
|
rs755896402
|
0.00001
|
|
NM_020937.4(FANCM):c.3763C>A (p.Pro1255Thr)
|
rs770651053
|
0.00001
|
|
NM_020937.4(FANCM):c.3828G>A (p.Ser1276=)
|
rs755082451
|
0.00001
|
|
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=)
|
rs188061266
|
0.00001
|
|
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg)
|
rs749696321
|
0.00001
|
|
NM_020937.4(FANCM):c.3887T>C (p.Ile1296Thr)
|
rs760563906
|
0.00001
|
|
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=)
|
rs764040527
|
0.00001
|
|
NM_020937.4(FANCM):c.3889C>T (p.Pro1297Ser)
|
rs753821216
|
0.00001
|
|
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys)
|
rs751795256
|
0.00001
|
|
NM_020937.4(FANCM):c.3921T>C (p.Tyr1307=)
|
rs764339843
|
0.00001
|
|
NM_020937.4(FANCM):c.3960G>A (p.Leu1320=)
|
rs745456931
|
0.00001
|
|
NM_020937.4(FANCM):c.3971G>A (p.Gly1324Asp)
|
rs1888731038
|
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.4047A>G (p.Ser1349=)
|
rs772889740
|
0.00001
|
|
NM_020937.4(FANCM):c.4057A>G (p.Ile1353Val)
|
rs759767076
|
0.00001
|
|
NM_020937.4(FANCM):c.4076A>G (p.Lys1359Arg)
|
rs758862288
|
0.00001
|
|
NM_020937.4(FANCM):c.4098A>T (p.Glu1366Asp)
|
rs550675560
|
0.00001
|
|
NM_020937.4(FANCM):c.4105A>G (p.Asn1369Asp)
|
rs1248092760
|
0.00001
|
|
NM_020937.4(FANCM):c.4107C>A (p.Asn1369Lys)
|
rs113664919
|
0.00001
|
|
NM_020937.4(FANCM):c.410T>C (p.Val137Ala)
|
rs748823532
|
0.00001
|
|
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr)
|
rs373590893
|
0.00001
|
|
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val)
|
rs376581960
|
0.00001
|
|
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys)
|
rs534229547
|
0.00001
|
|
NM_020937.4(FANCM):c.4213T>G (p.Ser1405Ala)
|
rs1412826290
|
0.00001
|
|
NM_020937.4(FANCM):c.422C>T (p.Ala141Val)
|
rs774380823
|
0.00001
|
|
NM_020937.4(FANCM):c.4245C>T (p.Asn1415=)
|
rs368936983
|
0.00001
|
|
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser)
|
rs771875070
|
0.00001
|
|
NM_020937.4(FANCM):c.4311T>C (p.Ser1437=)
|
rs1017827085
|
0.00001
|
|
NM_020937.4(FANCM):c.4322A>C (p.Gln1441Pro)
|
rs768911217
|
0.00001
|
|
NM_020937.4(FANCM):c.4343C>T (p.Ser1448Phe)
|
rs774526380
|
0.00001
|
|
NM_020937.4(FANCM):c.4359C>G (p.Val1453=)
|
rs779903070
|
0.00001
|
|
NM_020937.4(FANCM):c.4375C>G (p.Pro1459Ala)
|
rs1429932349
|
0.00001
|
|
NM_020937.4(FANCM):c.4387-12G>T
|
rs776419214
|
0.00001
|
|
NM_020937.4(FANCM):c.4395A>G (p.Leu1465=)
|
rs749970691
|
0.00001
|
|
NM_020937.4(FANCM):c.4401del (p.Ser1468fs)
|
rs1405059699
|
0.00001
|
|
NM_020937.4(FANCM):c.4429C>A (p.Pro1477Thr)
|
rs1373913163
|
0.00001
|
|
NM_020937.4(FANCM):c.4437A>C (p.Ser1479=)
|
rs1889215260
|
0.00001
|
|
NM_020937.4(FANCM):c.4439A>G (p.Gln1480Arg)
|
rs772095334
|
0.00001
|
|
NM_020937.4(FANCM):c.4449C>T (p.Asp1483=)
|
rs1889215868
|
0.00001
|
|
NM_020937.4(FANCM):c.4452C>G (p.Phe1484Leu)
|
rs143239291
|
0.00001
|
|
NM_020937.4(FANCM):c.4464C>T (p.Asn1488=)
|
rs376583120
|
0.00001
|
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
|
NM_020937.4(FANCM):c.4504A>G (p.Ser1502Gly)
|
rs779176062
|
0.00001
|
|
NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile)
|
rs945620719
|
0.00001
|
|
NM_020937.4(FANCM):c.4536A>G (p.Leu1512=)
|
rs1340500564
|
0.00001
|
|
NM_020937.4(FANCM):c.4542T>C (p.Asp1514=)
|
rs372272824
|
0.00001
|
|
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly)
|
rs199514189
|
0.00001
|
|
NM_020937.4(FANCM):c.4574A>G (p.Tyr1525Cys)
|
rs748721088
|
0.00001
|
|
NM_020937.4(FANCM):c.4574A>T (p.Tyr1525Phe)
|
rs748721088
|
0.00001
|
|
NM_020937.4(FANCM):c.4575T>C (p.Tyr1525=)
|
rs756538862
|
0.00001
|
|
NM_020937.4(FANCM):c.4599G>A (p.Glu1533=)
|
rs770525500
|
0.00001
|
|
NM_020937.4(FANCM):c.4624T>C (p.Leu1542=)
|
rs1394104664
|
0.00001
|
|
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His)
|
rs1251556461
|
0.00001
|
|
NM_020937.4(FANCM):c.4674T>C (p.Asp1558=)
|
rs1264214406
|
0.00001
|
|
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro)
|
rs377410891
|
0.00001
|
|
NM_020937.4(FANCM):c.4690A>G (p.Ile1564Val)
|
rs540558068
|
0.00001
|
|
NM_020937.4(FANCM):c.470T>A (p.Val157Glu)
|
rs1165497144
|
0.00001
|
|
NM_020937.4(FANCM):c.4717A>G (p.Met1573Val)
|
rs780976564
|
0.00001
|
|
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser)
|
rs748182153
|
0.00001
|
|
NM_020937.4(FANCM):c.4731G>A (p.Lys1577=)
|
rs769405541
|
0.00001
|
|
NM_020937.4(FANCM):c.4762A>G (p.Ile1588Val)
|
rs910499638
|
0.00001
|
|
NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly)
|
rs1405769485
|
0.00001
|
|
NM_020937.4(FANCM):c.4798A>G (p.Thr1600Ala)
|
rs779658679
|
0.00001
|
|
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn)
|
rs781618421
|
0.00001
|
|
NM_020937.4(FANCM):c.4820G>T (p.Cys1607Phe)
|
rs769869730
|
0.00001
|
|
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp)
|
rs1232508556
|
0.00001
|
|
NM_020937.4(FANCM):c.4860A>G (p.Glu1620=)
|
rs776303176
|
0.00001
|
|
NM_020937.4(FANCM):c.4871G>T (p.Cys1624Phe)
|
rs1457271846
|
0.00001
|
|
NM_020937.4(FANCM):c.4908A>G (p.Ala1636=)
|
rs1457220401
|
0.00001
|
|
NM_020937.4(FANCM):c.4913G>A (p.Ser1638Asn)
|
rs776797107
|
0.00001
|
|
NM_020937.4(FANCM):c.4928C>T (p.Thr1643Ile)
|
rs762187580
|
0.00001
|
|
NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg)
|
rs1472981713
|
0.00001
|
|
NM_020937.4(FANCM):c.4951G>A (p.Glu1651Lys)
|
rs752279370
|
0.00001
|
|
NM_020937.4(FANCM):c.5046T>C (p.Asp1682=)
|
rs1302536129
|
0.00001
|
|
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg)
|
rs763454366
|
0.00001
|
|
NM_020937.4(FANCM):c.509-13C>T
|
rs1383624464
|
0.00001
|
|
NM_020937.4(FANCM):c.5094C>T (p.Asn1698=)
|
rs1042174034
|
0.00001
|
|
NM_020937.4(FANCM):c.5103G>A (p.Gln1701=)
|
rs1160184503
|
0.00001
|
|
NM_020937.4(FANCM):c.5127T>C (p.Pro1709=)
|
rs1157235486
|
0.00001
|
|
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met)
|
rs371629950
|
0.00001
|
|
NM_020937.4(FANCM):c.5154G>A (p.Val1718=)
|
rs775219071
|
0.00001
|
|
NM_020937.4(FANCM):c.5155C>T (p.Arg1719Cys)
|
rs1444402627
|
0.00001
|
|
NM_020937.4(FANCM):c.5156G>A (p.Arg1719His)
|
rs760421586
|
0.00001
|
|
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu)
|
rs112745068
|
0.00001
|
|
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs)
|
rs758498345
|
0.00001
|
|
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr)
|
rs768392812
|
0.00001
|
|
NM_020937.4(FANCM):c.5229C>T (p.Ser1743=)
|
rs1298918449
|
0.00001
|
|
NM_020937.4(FANCM):c.5230G>A (p.Glu1744Lys)
|
rs776474104
|
0.00001
|
|
NM_020937.4(FANCM):c.5240A>G (p.Asp1747Gly)
|
rs764718852
|
0.00001
|
|
NM_020937.4(FANCM):c.5258A>G (p.His1753Arg)
|
rs371891604
|
0.00001
|
|
NM_020937.4(FANCM):c.5271G>A (p.Gln1757=)
|
rs1193398969
|
0.00001
|
|
NM_020937.4(FANCM):c.5317A>G (p.Arg1773Gly)
|
rs1356723831
|
0.00001
|
|
NM_020937.4(FANCM):c.5337G>T (p.Gln1779His)
|
rs374822670
|
0.00001
|
|
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly)
|
rs752053357
|
0.00001
|
|
NM_020937.4(FANCM):c.5359G>T (p.Asp1787Tyr)
|
rs1465506378
|
0.00001
|
|
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser)
|
rs759165724
|
0.00001
|
|
NM_020937.4(FANCM):c.5400A>G (p.Pro1800=)
|
rs1220530493
|
0.00001
|
|
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala)
|
rs1195945183
|
0.00001
|
|
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu)
|
rs200095329
|
0.00001
|
|
NM_020937.4(FANCM):c.5474A>G (p.His1825Arg)
|
rs751719012
|
0.00001
|
|
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp)
|
rs374303319
|
0.00001
|
|
NM_020937.4(FANCM):c.5509C>T (p.Leu1837=)
|
rs1890055603
|
0.00001
|
|
NM_020937.4(FANCM):c.5530del (p.Gln1844fs)
|
rs778451008
|
0.00001
|
|
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile)
|
rs775021812
|
0.00001
|
|
NM_020937.4(FANCM):c.5568C>T (p.Ile1856=)
|
rs771670832
|
0.00001
|
|
NM_020937.4(FANCM):c.5578C>T (p.Arg1860Cys)
|
rs139996409
|
0.00001
|
|
NM_020937.4(FANCM):c.5618A>G (p.Asn1873Ser)
|
rs1890063869
|
0.00001
|
|
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter)
|
rs1379375089
|
0.00001
|
|
NM_020937.4(FANCM):c.565C>G (p.Leu189Val)
|
rs149010517
|
0.00001
|
|
NM_020937.4(FANCM):c.5661G>A (p.Leu1887=)
|
rs754173937
|
0.00001
|
|
NM_020937.4(FANCM):c.5681T>C (p.Ile1894Thr)
|
rs1308170151
|
0.00001
|
|
NM_020937.4(FANCM):c.5702A>G (p.Asp1901Gly)
|
rs1164461453
|
0.00001
|
|
NM_020937.4(FANCM):c.5716+12T>G
|
rs1890072677
|
0.00001
|
|
NM_020937.4(FANCM):c.5717-4T>A
|
rs781258517
|
0.00001
|
|
NM_020937.4(FANCM):c.5736T>A (p.Phe1912Leu)
|
rs755903696
|
0.00001
|
|
NM_020937.4(FANCM):c.5754T>C (p.Tyr1918=)
|
rs772310452
|
0.00001
|
|
NM_020937.4(FANCM):c.575A>T (p.Gln192Leu)
|
rs768031730
|
0.00001
|
|
NM_020937.4(FANCM):c.5782G>A (p.Ala1928Thr)
|
rs1890206013
|
0.00001
|
|
NM_020937.4(FANCM):c.5792G>A (p.Arg1931Gln)
|
rs773595869
|
0.00001
|
|
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr)
|
rs759078220
|
0.00001
|
|
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn)
|
rs1060501893
|
0.00001
|
|
NM_020937.4(FANCM):c.5855A>G (p.Glu1952Gly)
|
rs1594486115
|
0.00001
|
|
NM_020937.4(FANCM):c.5859A>G (p.Gln1953=)
|
rs1162450469
|
0.00001
|
|
NM_020937.4(FANCM):c.5917C>T (p.Leu1973Phe)
|
rs1890214915
|
0.00001
|
|
NM_020937.4(FANCM):c.6009-18G>T
|
rs774599483
|
0.00001
|
|
NM_020937.4(FANCM):c.6020A>G (p.Glu2007Gly)
|
rs1350057442
|
0.00001
|
|
NM_020937.4(FANCM):c.6075T>C (p.Tyr2025=)
|
rs180764458
|
0.00001
|
|
NM_020937.4(FANCM):c.6129A>T (p.Arg2043Ser)
|
rs772632630
|
0.00001
|
|
NM_020937.4(FANCM):c.635T>A (p.Val212Asp)
|
rs1277508701
|
0.00001
|
|
NM_020937.4(FANCM):c.650A>G (p.His217Arg)
|
rs532404406
|
0.00001
|
|
NM_020937.4(FANCM):c.673T>C (p.Tyr225His)
|
rs771120876
|
0.00001
|
|
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter)
|
rs1209536013
|
0.00001
|
|
NM_020937.4(FANCM):c.682-7T>C
|
rs1012042292
|
0.00001
|
|
NM_020937.4(FANCM):c.693A>G (p.Glu231=)
|
rs146597866
|
0.00001
|
|
NM_020937.4(FANCM):c.6C>T (p.Ser2=)
|
rs1215540624
|
0.00001
|
|
NM_020937.4(FANCM):c.717T>C (p.Phe239=)
|
rs1365220972
|
0.00001
|
|
NM_020937.4(FANCM):c.768A>G (p.Gln256=)
|
rs1886616759
|
0.00001
|
|
NM_020937.4(FANCM):c.809G>A (p.Arg270His)
|
rs759079934
|
0.00001
|
|
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys)
|
rs767396394
|
0.00001
|
|
NM_020937.4(FANCM):c.824C>T (p.Pro275Leu)
|
rs1436183493
|
0.00001
|
|
NM_020937.4(FANCM):c.868A>G (p.Ile290Val)
|
rs780426259
|
0.00001
|
|
NM_020937.4(FANCM):c.882T>G (p.Gly294=)
|
rs1298378119
|
0.00001
|
|
NM_020937.4(FANCM):c.898A>G (p.Ile300Val)
|
rs749659002
|
0.00001
|
|
NM_020937.4(FANCM):c.925G>A (p.Glu309Lys)
|
rs778377621
|
0.00001
|
|
NM_020937.4(FANCM):c.938G>A (p.Arg313His)
|
rs767487612
|
0.00001
|
|
NM_020937.4(FANCM):c.946A>G (p.Ile316Val)
|
rs1401549421
|
0.00001
|
|
NM_020937.4(FANCM):c.963G>C (p.Leu321Phe)
|
rs761891998
|
0.00001
|
|
NM_020937.4(FANCM):c.975T>C (p.Asp325=)
|
rs765094256
|
0.00001
|
|
NM_020937.4(FANCM):c.980C>T (p.Pro327Leu)
|
rs879849364
|
0.00001
|
|
NM_020937.4(FANCM):c.985C>G (p.Leu329Val)
|
rs750311376
|
0.00001
|
|
NM_020937.4(FANCM):c.98A>G (p.Gln33Arg)
|
rs759911498
|
0.00001
|
|
NM_021922.3(FANCE):c.1017C>T (p.Leu339=)
|
rs1277513595
|
0.00001
|
|
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr)
|
rs1007410805
|
0.00001
|
|
NM_021922.3(FANCE):c.104C>T (p.Ala35Val)
|
rs570498238
|
0.00001
|
|
NM_021922.3(FANCE):c.1053T>G (p.Leu351=)
|
rs755165473
|
0.00001
|
|
NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln)
|
rs1351881430
|
0.00001
|
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
|
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)
|
rs1236565765
|
0.00001
|
|
NM_021922.3(FANCE):c.1142G>A (p.Arg381His)
|
rs374232967
|
0.00001
|
|
NM_021922.3(FANCE):c.1221C>T (p.Leu407=)
|
rs752130850
|
0.00001
|
|
NM_021922.3(FANCE):c.1237+20C>G
|
rs755688409
|
0.00001
|
|
NM_021922.3(FANCE):c.1238-1G>C
|
rs1767507722
|
0.00001
|
|
NM_021922.3(FANCE):c.128G>A (p.Gly43Asp)
|
rs1767154137
|
0.00001
|
|
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp)
|
rs886061331
|
0.00001
|
|
NM_021922.3(FANCE):c.1309A>G (p.Met437Val)
|
rs746770705
|
0.00001
|
|
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro)
|
rs745685973
|
0.00001
|
|
NM_021922.3(FANCE):c.1356G>C (p.Leu452Phe)
|
rs1488514330
|
0.00001
|
|
NM_021922.3(FANCE):c.136G>T (p.Val46Leu)
|
rs1366722396
|
0.00001
|
|
NM_021922.3(FANCE):c.1384-14C>T
|
rs558453150
|
0.00001
|
|
NM_021922.3(FANCE):c.1384-5T>C
|
rs777064305
|
0.00001
|
|
NM_021922.3(FANCE):c.1395C>T (p.Thr465=)
|
rs770219946
|
0.00001
|
|
NM_021922.3(FANCE):c.148C>T (p.Leu50=)
|
rs1278828834
|
0.00001
|
|
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu)
|
rs746321808
|
0.00001
|
|
NM_021922.3(FANCE):c.1510-1G>A
|
rs772678337
|
0.00001
|
|
NM_021922.3(FANCE):c.1512C>A (p.Ile504=)
|
rs760228323
|
0.00001
|
|
NM_021922.3(FANCE):c.1517A>G (p.Glu506Gly)
|
rs766291860
|
0.00001
|
|
NM_021922.3(FANCE):c.1520C>T (p.Thr507Ile)
|
rs1413425638
|
0.00001
|
|
NM_021922.3(FANCE):c.1525A>C (p.Arg509=)
|
rs1293230097
|
0.00001
|
|
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu)
|
rs1256798501
|
0.00001
|
|
NM_021922.3(FANCE):c.1581G>A (p.Leu527=)
|
rs757384407
|
0.00001
|
|
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)
|
rs749697038
|
0.00001
|
|
NM_021922.3(FANCE):c.15C>T (p.Asp5=)
|
rs1298974698
|
0.00001
|
|
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser)
|
rs890865684
|
0.00001
|
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
|
NM_021922.3(FANCE):c.248+1del
|
rs1767163932
|
0.00001
|
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
|
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln)
|
rs369035099
|
0.00001
|
|
NM_021922.3(FANCE):c.324G>A (p.Ser108=)
|
rs762826105
|
0.00001
|
|
NM_021922.3(FANCE):c.327G>C (p.Leu109=)
|
rs1767304773
|
0.00001
|
|
NM_021922.3(FANCE):c.328C>T (p.Pro110Ser)
|
rs763968547
|
0.00001
|
|
NM_021922.3(FANCE):c.330G>A (p.Pro110=)
|
rs757051494
|
0.00001
|
|
NM_021922.3(FANCE):c.338G>C (p.Gly113Ala)
|
rs780304950
|
0.00001
|
|
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)
|
rs121434505
|
0.00001
|
|
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu)
|
rs1554121253
|
0.00001
|
|
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)
|
rs181761362
|
0.00001
|
|
NM_021922.3(FANCE):c.401G>A (p.Arg134His)
|
rs774939689
|
0.00001
|
|
NM_021922.3(FANCE):c.436G>T (p.Val146Leu)
|
rs755204532
|
0.00001
|
|
NM_021922.3(FANCE):c.449T>C (p.Met150Thr)
|
rs752797466
|
0.00001
|
|
NM_021922.3(FANCE):c.466C>T (p.Leu156=)
|
rs747537380
|
0.00001
|
|
NM_021922.3(FANCE):c.480C>T (p.Cys160=)
|
rs45509302
|
0.00001
|
|
NM_021922.3(FANCE):c.495A>G (p.Gln165=)
|
rs781480072
|
0.00001
|
|
NM_021922.3(FANCE):c.501A>G (p.Leu167=)
|
rs769404523
|
0.00001
|
|
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg)
|
rs370057221
|
0.00001
|
|
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp)
|
rs764017469
|
0.00001
|
|
NM_021922.3(FANCE):c.535A>C (p.Lys179Gln)
|
rs751676807
|
0.00001
|
|
NM_021922.3(FANCE):c.540C>T (p.Ser180=)
|
rs781691272
|
0.00001
|
|
NM_021922.3(FANCE):c.599G>A (p.Arg200His)
|
rs150278839
|
0.00001
|
|
NM_021922.3(FANCE):c.621G>A (p.Glu207=)
|
rs1195525206
|
0.00001
|
|
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu)
|
rs370659315
|
0.00001
|
|
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln)
|
rs777849670
|
0.00001
|
|
NM_021922.3(FANCE):c.685C>T (p.His229Tyr)
|
rs142737128
|
0.00001
|
|
NM_021922.3(FANCE):c.693G>A (p.Lys231=)
|
rs202207657
|
0.00001
|
|
NM_021922.3(FANCE):c.744A>G (p.Ala248=)
|
rs774688796
|
0.00001
|
|
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr)
|
rs766901564
|
0.00001
|
|
NM_021922.3(FANCE):c.786C>T (p.Gly262=)
|
rs755421532
|
0.00001
|
|
NM_021922.3(FANCE):c.792C>T (p.Asp264=)
|
rs758132363
|
0.00001
|
|
NM_021922.3(FANCE):c.798G>A (p.Ser266=)
|
rs746542545
|
0.00001
|
|
NM_021922.3(FANCE):c.821T>C (p.Leu274Pro)
|
rs376591931
|
0.00001
|
|
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)
|
rs886061329
|
0.00001
|
|
NM_021922.3(FANCE):c.938T>C (p.Leu313Pro)
|
rs1767415225
|
0.00001
|
|
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)
|
rs760150539
|
0.00001
|
|
NM_021922.3(FANCE):c.951C>T (p.His317=)
|
rs753841588
|
0.00001
|
|
NM_021922.3(FANCE):c.969+16T>G
|
rs780283194
|
0.00001
|
|
NM_021922.3(FANCE):c.970-18C>G
|
rs1376629458
|
0.00001
|
|
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)
|
rs779336261
|
0.00001
|
|
NM_021922.3(FANCE):c.993G>A (p.Leu331=)
|
rs1358873070
|
0.00001
|
|
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro)
|
rs770592868
|
0.00001
|
|
NM_021922.3(FANCE):c.999C>T (p.Leu333=)
|
rs776082827
|
0.00001
|
|
NM_022725.4(FANCF):c.1026T>C (p.Pro342=)
|
rs745879868
|
0.00001
|
|
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe)
|
rs754545069
|
0.00001
|
|
NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe)
|
rs1858614394
|
0.00001
|
|
NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly)
|
rs1357749824
|
0.00001
|
|
NM_022725.4(FANCF):c.1114A>G (p.Ser372Gly)
|
rs760590516
|
0.00001
|
|
NM_022725.4(FANCF):c.116G>A (p.Arg39His)
|
rs778953394
|
0.00001
|
|
NM_022725.4(FANCF):c.128A>C (p.His43Pro)
|
rs761221734
|
0.00001
|
|
NM_022725.4(FANCF):c.133C>T (p.His45Tyr)
|
rs753116878
|
0.00001
|
|
NM_022725.4(FANCF):c.13C>T (p.Leu5=)
|
rs778821124
|
0.00001
|
|
NM_022725.4(FANCF):c.14T>C (p.Leu5Pro)
|
rs1159900858
|
0.00001
|
|
NM_022725.4(FANCF):c.166A>G (p.Thr56Ala)
|
rs772736775
|
0.00001
|
|
NM_022725.4(FANCF):c.182G>T (p.Arg61Leu)
|
rs779046357
|
0.00001
|
|
NM_022725.4(FANCF):c.189C>G (p.His63Gln)
|
rs1014150752
|
0.00001
|
|
NM_022725.4(FANCF):c.19C>G (p.His7Asp)
|
rs749273752
|
0.00001
|
|
NM_022725.4(FANCF):c.201G>A (p.Arg67=)
|
rs765970178
|
0.00001
|
|
NM_022725.4(FANCF):c.210C>T (p.Gly70=)
|
rs769740744
|
0.00001
|
|
NM_022725.4(FANCF):c.22C>T (p.Leu8=)
|
rs1181623769
|
0.00001
|
|
NM_022725.4(FANCF):c.232C>A (p.Pro78Thr)
|
rs554712164
|
0.00001
|
|
NM_022725.4(FANCF):c.233C>T (p.Pro78Leu)
|
rs928361745
|
0.00001
|
|
NM_022725.4(FANCF):c.24G>C (p.Leu8=)
|
rs1035401874
|
0.00001
|
|
NM_022725.4(FANCF):c.251A>G (p.Gln84Arg)
|
rs756488831
|
0.00001
|
|
NM_022725.4(FANCF):c.2T>G (p.Met1Arg)
|
rs745495865
|
0.00001
|
|
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro)
|
rs373385251
|
0.00001
|
|
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)
|
rs757993614
|
0.00001
|
|
NM_022725.4(FANCF):c.356C>T (p.Pro119Leu)
|
rs760472320
|
0.00001
|
|
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly)
|
rs1216924776
|
0.00001
|
|
NM_022725.4(FANCF):c.384A>C (p.Thr128=)
|
rs200307118
|
0.00001
|
|
NM_022725.4(FANCF):c.436C>G (p.Leu146Val)
|
rs779428484
|
0.00001
|
|
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp)
|
rs370979205
|
0.00001
|
|
NM_022725.4(FANCF):c.469C>T (p.Leu157Phe)
|
rs1060501870
|
0.00001
|
|
NM_022725.4(FANCF):c.580G>A (p.Glu194Lys)
|
rs893075597
|
0.00001
|
|
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser)
|
rs1231820160
|
0.00001
|
|
NM_022725.4(FANCF):c.640T>C (p.Leu214=)
|
rs773556058
|
0.00001
|
|
NM_022725.4(FANCF):c.675C>T (p.Gly225=)
|
rs767689033
|
0.00001
|
|
NM_022725.4(FANCF):c.680A>G (p.His227Arg)
|
rs1248152779
|
0.00001
|
|
NM_022725.4(FANCF):c.690del (p.Gly231fs)
|
rs747622521
|
0.00001
|
|
NM_022725.4(FANCF):c.699G>A (p.Gly233=)
|
rs1565055031
|
0.00001
|
|
NM_022725.4(FANCF):c.705A>C (p.Gln235His)
|
rs768107677
|
0.00001
|
|
NM_022725.4(FANCF):c.729G>A (p.Gly243=)
|
rs778844305
|
0.00001
|
|
NM_022725.4(FANCF):c.807G>A (p.Ala269=)
|
rs754312601
|
0.00001
|
|
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg)
|
rs374063561
|
0.00001
|
|
NM_022725.4(FANCF):c.849A>C (p.Gln283His)
|
rs146848948
|
0.00001
|
|
NM_022725.4(FANCF):c.84C>A (p.Pro28=)
|
rs771462007
|
0.00001
|
|
NM_022725.4(FANCF):c.877A>G (p.Ile293Val)
|
rs780747014
|
0.00001
|
|
NM_022725.4(FANCF):c.907C>T (p.Pro303Ser)
|
rs199717587
|
0.00001
|
|
NM_022725.4(FANCF):c.927T>C (p.Asn309=)
|
rs200073415
|
0.00001
|
|
NM_022725.4(FANCF):c.936A>T (p.Gln312His)
|
rs371631248
|
0.00001
|
|
NM_022725.4(FANCF):c.984C>T (p.Ala328=)
|
rs1858616188
|
0.00001
|
|
NM_022725.4(FANCF):c.993C>G (p.Thr331=)
|
rs751274756
|
0.00001
|
|
NM_032043.2(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
|
NM_032043.3(BRIP1):c.1023C>T (p.Val341=)
|
rs957014406
|
0.00001
|
|
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg)
|
rs373104267
|
0.00001
|
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
|
NM_032043.3(BRIP1):c.1055A>G (p.Tyr352Cys)
|
rs762417690
|
0.00001
|
|
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His)
|
rs1567831780
|
0.00001
|
|
NM_032043.3(BRIP1):c.1059C>T (p.Tyr353=)
|
rs864622375
|
0.00001
|
|
NM_032043.3(BRIP1):c.1061C>T (p.Thr354Ile)
|
rs776939714
|
0.00001
|
|
NM_032043.3(BRIP1):c.1065C>G (p.Ala355=)
|
rs1222801209
|
0.00001
|
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
|
NM_032043.3(BRIP1):c.1071A>G (p.Glu357=)
|
rs761017296
|
0.00001
|
|
NM_032043.3(BRIP1):c.1074A>C (p.Leu358=)
|
rs771682192
|
0.00001
|
|
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)
|
rs730881634
|
0.00001
|
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
|
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His)
|
rs587781325
|
0.00001
|
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
|
NM_032043.3(BRIP1):c.1117C>T (p.Leu373=)
|
rs755992778
|
0.00001
|
|
NM_032043.3(BRIP1):c.1141-4A>G
|
rs1226658018
|
0.00001
|
|
NM_032043.3(BRIP1):c.1152T>C (p.Asn384=)
|
rs1055794932
|
0.00001
|
|
NM_032043.3(BRIP1):c.1184C>A (p.Ala395Asp)
|
rs778992385
|
0.00001
|
|
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)
|
rs996493095
|
0.00001
|
|
NM_032043.3(BRIP1):c.1192A>G (p.Ile398Val)
|
rs786203967
|
0.00001
|
|
NM_032043.3(BRIP1):c.1194C>T (p.Ile398=)
|
rs757427498
|
0.00001
|
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
|
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr)
|
rs764711572
|
0.00001
|
|
NM_032043.3(BRIP1):c.1202G>A (p.Cys401Tyr)
|
rs1340018456
|
0.00001
|
|
NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln)
|
rs786202780
|
0.00001
|
|
NM_032043.3(BRIP1):c.120A>G (p.Gln40=)
|
rs878855136
|
0.00001
|
|
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)
|
rs1060501747
|
0.00001
|
|
NM_032043.3(BRIP1):c.1217C>T (p.Ala406Val)
|
rs767872861
|
0.00001
|
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
|
NM_032043.3(BRIP1):c.1247G>A (p.Arg416Gln)
|
rs772570870
|
0.00001
|
|
NM_032043.3(BRIP1):c.1256G>A (p.Arg419Gln)
|
rs748105919
|
0.00001
|
|
NM_032043.3(BRIP1):c.1266A>G (p.Leu422=)
|
rs1484320639
|
0.00001
|
|
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly)
|
rs746778889
|
0.00001
|
|
NM_032043.3(BRIP1):c.1283A>G (p.Asn428Ser)
|
rs779237423
|
0.00001
|
|
NM_032043.3(BRIP1):c.1286A>C (p.Asn429Thr)
|
rs587781463
|
0.00001
|
|
NM_032043.3(BRIP1):c.1297A>G (p.Lys433Glu)
|
rs2077947326
|
0.00001
|
|
NM_032043.3(BRIP1):c.1304A>G (p.His435Arg)
|
rs730881636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
|
NM_032043.3(BRIP1):c.1316G>A (p.Arg439Gln)
|
rs753214212
|
0.00001
|
|
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)
|
rs1060501782
|
0.00001
|
|
NM_032043.3(BRIP1):c.1322T>C (p.Val441Ala)
|
rs1458068665
|
0.00001
|
|
NM_032043.3(BRIP1):c.1332C>T (p.Ser444=)
|
rs200581792
|
0.00001
|
|
NM_032043.3(BRIP1):c.1340+17A>G
|
rs1450290454
|
0.00001
|
|
NM_032043.3(BRIP1):c.1341-12A>G
|
rs1441257544
|
0.00001
|
|
NM_032043.3(BRIP1):c.134A>G (p.Glu45Gly)
|
rs2078950725
|
0.00001
|
|
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)
|
rs587780227
|
0.00001
|
|
NM_032043.3(BRIP1):c.1361A>T (p.Glu454Val)
|
rs769918040
|
0.00001
|
|
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn)
|
rs587780826
|
0.00001
|
|
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu)
|
rs748221377
|
0.00001
|
|
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)
|
rs752052351
|
0.00001
|
|
NM_032043.3(BRIP1):c.143C>A (p.Thr48Lys)
|
rs755317452
|
0.00001
|
|
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys)
|
rs587780229
|
0.00001
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+19C>T
|
rs201603389
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.1476A>T (p.Gly492=)
|
rs1398626535
|
0.00001
|
|
NM_032043.3(BRIP1):c.1483T>C (p.Ser495Pro)
|
rs1555603617
|
0.00001
|
|
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly)
|
rs1555603565
|
0.00001
|
|
NM_032043.3(BRIP1):c.1542A>G (p.Arg514=)
|
rs779454200
|
0.00001
|
|
NM_032043.3(BRIP1):c.1571A>G (p.Gln524Arg)
|
rs587781726
|
0.00001
|
|
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)
|
rs138784299
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
|
NM_032043.3(BRIP1):c.1595T>C (p.Met532Thr)
|
rs1179705368
|
0.00001
|
|
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys)
|
rs1060501752
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+11A>G
|
rs1064793459
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+18G>C
|
rs1005163267
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+20A>G
|
rs200292462
|
0.00001
|
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
|
NM_032043.3(BRIP1):c.1651G>A (p.Ala551Thr)
|
rs766302517
|
0.00001
|
|
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)
|
rs1375911072
|
0.00001
|
|
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg)
|
rs767648925
|
0.00001
|
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1696G>A (p.Asp566Asn)
|
rs1289102059
|
0.00001
|
|
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)
|
rs763458922
|
0.00001
|
|
NM_032043.3(BRIP1):c.170T>G (p.Leu57Arg)
|
rs1435822764
|
0.00001
|
|
NM_032043.3(BRIP1):c.1710G>A (p.Leu570=)
|
rs370087045
|
0.00001
|
|
NM_032043.3(BRIP1):c.1717C>G (p.Leu573Val)
|
rs786202587
|
0.00001
|
|
NM_032043.3(BRIP1):c.1730A>T (p.Lys577Met)
|
rs1411869768
|
0.00001
|
|
NM_032043.3(BRIP1):c.1731G>A (p.Lys577=)
|
rs587780829
|
0.00001
|
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
|
NM_032043.3(BRIP1):c.1748A>G (p.Lys583Arg)
|
rs876658547
|
0.00001
|
|
NM_032043.3(BRIP1):c.1752T>G (p.Thr584=)
|
rs778774207
|
0.00001
|
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
|
NM_032043.3(BRIP1):c.1771T>A (p.Phe591Ile)
|
rs876661057
|
0.00001
|
|
NM_032043.3(BRIP1):c.1794+1G>A
|
rs766516963
|
0.00001
|
|
NM_032043.3(BRIP1):c.1794+1G>C
|
rs766516963
|
0.00001
|
|
NM_032043.3(BRIP1):c.1795-7C>G
|
rs760326491
|
0.00001
|
|
NM_032043.3(BRIP1):c.1795-9T>G
|
rs777006706
|
0.00001
|
|
NM_032043.3(BRIP1):c.1797C>G (p.Ala599=)
|
rs771672834
|
0.00001
|
|
NM_032043.3(BRIP1):c.1800T>G (p.Phe600Leu)
|
rs375625993
|
0.00001
|
|
NM_032043.3(BRIP1):c.1801T>G (p.Ser601Ala)
|
rs1317946589
|
0.00001
|
|
NM_032043.3(BRIP1):c.1804G>T (p.Asp602Tyr)
|
rs770750488
|
0.00001
|
|
NM_032043.3(BRIP1):c.1838C>G (p.Thr613Arg)
|
rs864622345
|
0.00001
|
|
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro)
|
rs935011040
|
0.00001
|
|
NM_032043.3(BRIP1):c.1903C>A (p.Leu635Met)
|
rs754280136
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935+14T>G
|
rs773754230
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935+15T>C
|
rs796483567
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935G>C (p.Gln645His)
|
rs1254051324
|
0.00001
|
|
NM_032043.3(BRIP1):c.1936-7A>T
|
rs1427111542
|
0.00001
|
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
|
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile)
|
rs780475484
|
0.00001
|
|
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr)
|
rs757305097
|
0.00001
|
|
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg)
|
rs1051619247
|
0.00001
|
|
NM_032043.3(BRIP1):c.1981T>C (p.Cys661Arg)
|
rs876660402
|
0.00001
|
|
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr)
|
rs571340013
|
0.00001
|
|
NM_032043.3(BRIP1):c.1989C>A (p.Thr663=)
|
rs376628979
|
0.00001
|
|
NM_032043.3(BRIP1):c.1989C>T (p.Thr663=)
|
rs376628979
|
0.00001
|
|
NM_032043.3(BRIP1):c.19G>C (p.Glu7Gln)
|
rs1246321339
|
0.00001
|
|
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)
|
rs764585550
|
0.00001
|
|
NM_032043.3(BRIP1):c.2031A>T (p.Gly677=)
|
rs1288620174
|
0.00001
|
|
NM_032043.3(BRIP1):c.2038T>C (p.Leu680=)
|
rs786203872
|
0.00001
|
|
NM_032043.3(BRIP1):c.2048T>G (p.Val683Gly)
|
rs1294492499
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+16A>G
|
rs1057520253
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+20C>G
|
rs1567876836
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+3A>G
|
rs539329589
|
0.00001
|
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
|
NM_032043.3(BRIP1):c.2069G>A (p.Gly690Glu)
|
rs878855144
|
0.00001
|
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
|
NM_032043.3(BRIP1):c.2098-3T>C
|
rs1057520463
|
0.00001
|
|
NM_032043.3(BRIP1):c.2107A>C (p.Lys703Gln)
|
rs762590242
|
0.00001
|
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
|
NM_032043.3(BRIP1):c.2121T>C (p.Arg707=)
|
rs1481107855
|
0.00001
|
|
NM_032043.3(BRIP1):c.2136T>C (p.Gly712=)
|
rs1426003140
|
0.00001
|
|
NM_032043.3(BRIP1):c.2155T>C (p.Leu719=)
|
rs771122056
|
0.00001
|
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
|
NM_032043.3(BRIP1):c.2172T>A (p.Ile724=)
|
rs777860588
|
0.00001
|
|
NM_032043.3(BRIP1):c.2179C>G (p.Pro727Ala)
|
rs769797684
|
0.00001
|
|
NM_032043.3(BRIP1):c.2203T>C (p.Phe735Leu)
|
rs1353526212
|
0.00001
|
|
NM_032043.3(BRIP1):c.2247A>T (p.Lys749Asn)
|
rs587782556
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+17T>C
|
rs730881639
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+5C>T
|
rs1057523068
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+6_2257+7del
|
rs1255940179
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258-18T>G
|
rs544273704
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258-8T>C
|
rs2077009801
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
|
NM_032043.3(BRIP1):c.225C>T (p.Gly75=)
|
rs186802750
|
0.00001
|
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
|
NM_032043.3(BRIP1):c.2281T>G (p.Cys761Gly)
|
rs1422958547
|
0.00001
|
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
|
NM_032043.3(BRIP1):c.2295G>A (p.Val765=)
|
rs752509701
|
0.00001
|
|
NM_032043.3(BRIP1):c.2301G>A (p.Glu767=)
|
rs369434185
|
0.00001
|
|
NM_032043.3(BRIP1):c.2304T>C (p.Gly768=)
|
rs1603303843
|
0.00001
|
|
NM_032043.3(BRIP1):c.2310T>C (p.Asp770=)
|
rs148752066
|
0.00001
|
|
NM_032043.3(BRIP1):c.2330G>A (p.Arg777His)
|
rs747568830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2338A>C (p.Ile780Leu)
|
rs776131401
|
0.00001
|
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
|
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr)
|
rs778758437
|
0.00001
|
|
NM_032043.3(BRIP1):c.2370A>G (p.Lys790=)
|
rs372122365
|
0.00001
|
|
NM_032043.3(BRIP1):c.2371G>T (p.Asp791Tyr)
|
rs1289778155
|
0.00001
|
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
|
NM_032043.3(BRIP1):c.2379+1G>A
|
rs1555590286
|
0.00001
|
|
NM_032043.3(BRIP1):c.2380-3T>A
|
rs587782542
|
0.00001
|
|
NM_032043.3(BRIP1):c.2382T>G (p.Val794=)
|
rs560088455
|
0.00001
|
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
|
NM_032043.3(BRIP1):c.2402A>G (p.Asn801Ser)
|
rs1325317591
|
0.00001
|
|
NM_032043.3(BRIP1):c.2419T>C (p.Leu807=)
|
rs786201708
|
0.00001
|
|
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=)
|
rs754927538
|
0.00001
|
|
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val)
|
rs587780238
|
0.00001
|
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His)
|
rs760887592
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
|
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser)
|
rs760127237
|
0.00001
|
|
NM_032043.3(BRIP1):c.2478C>T (p.Asn826=)
|
rs774939280
|
0.00001
|
|
NM_032043.3(BRIP1):c.2492+5G>A
|
rs763222019
|
0.00001
|
|
NM_032043.3(BRIP1):c.2493-11A>G
|
rs890923836
|
0.00001
|
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
|
NM_032043.3(BRIP1):c.2505C>T (p.His835=)
|
rs775547651
|
0.00001
|
|
NM_032043.3(BRIP1):c.2514T>C (p.Asp838=)
|
rs1555574808
|
0.00001
|
|
NM_032043.3(BRIP1):c.2523T>C (p.Ala841=)
|
rs1603280558
|
0.00001
|
|
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs)
|
rs2061477722
|
0.00001
|
|
NM_032043.3(BRIP1):c.2535G>A (p.Val845=)
|
rs1555574772
|
0.00001
|
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2568T>C (p.Tyr856=)
|
rs370175724
|
0.00001
|
|
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)
|
rs28904918
|
0.00001
|
|
NM_032043.3(BRIP1):c.2571A>G (p.Ile857Met)
|
rs1427254734
|
0.00001
|
|
NM_032043.3(BRIP1):c.2575+4A>G
|
rs758858747
|
0.00001
|
|
NM_032043.3(BRIP1):c.2576-7T>C
|
rs759408257
|
0.00001
|
|
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)
|
rs587780242
|
0.00001
|
|
NM_032043.3(BRIP1):c.2582C>G (p.Ser861Cys)
|
rs774415723
|
0.00001
|
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
|
NM_032043.3(BRIP1):c.2598G>A (p.Gln866=)
|
rs769021796
|
0.00001
|
|
NM_032043.3(BRIP1):c.2613T>C (p.His871=)
|
rs199721657
|
0.00001
|
|
NM_032043.3(BRIP1):c.2617A>G (p.Thr873Ala)
|
rs758444508
|
0.00001
|
|
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln)
|
rs876659099
|
0.00001
|
|
NM_032043.3(BRIP1):c.2628T>C (p.Ser876=)
|
rs1032574757
|
0.00001
|
|
NM_032043.3(BRIP1):c.2646T>C (p.Ala882=)
|
rs1342595412
|
0.00001
|
|
NM_032043.3(BRIP1):c.2648A>C (p.Glu883Ala)
|
rs1453990721
|
0.00001
|
|
NM_032043.3(BRIP1):c.2671G>C (p.Val891Leu)
|
rs754224663
|
0.00001
|
|
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)
|
rs764406913
|
0.00001
|
|
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)
|
rs587781644
|
0.00001
|
|
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr)
|
rs1221074399
|
0.00001
|
|
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)
|
rs1060501781
|
0.00001
|
|
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)
|
rs587780244
|
0.00001
|
|
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)
|
rs786201919
|
0.00001
|
|
NM_032043.3(BRIP1):c.2728G>A (p.Glu910Lys)
|
rs1007808618
|
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.2776G>A (p.Ala926Thr)
|
rs1003917080
|
0.00001
|
|
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val)
|
rs1483709056
|
0.00001
|
|
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro)
|
rs1384396768
|
0.00001
|
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
|
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)
|
rs1259968679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
|
NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly)
|
rs756490117
|
0.00001
|
|
NM_032043.3(BRIP1):c.281A>G (p.Asp94Gly)
|
rs529201896
|
0.00001
|
|
NM_032043.3(BRIP1):c.2820G>A (p.Lys940=)
|
rs786201396
|
0.00001
|
|
NM_032043.3(BRIP1):c.2833G>C (p.Glu945Gln)
|
rs863224802
|
0.00001
|
|
NM_032043.3(BRIP1):c.2841G>A (p.Gln947=)
|
rs786201414
|
0.00001
|
|
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)
|
rs761639530
|
0.00001
|
|
NM_032043.3(BRIP1):c.2874A>T (p.Leu958=)
|
rs886041147
|
0.00001
|
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
|
NM_032043.3(BRIP1):c.2900A>G (p.Glu967Gly)
|
rs1176224216
|
0.00001
|
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
|
NM_032043.3(BRIP1):c.2906-15T>A
|
rs771068891
|
0.00001
|
|
NM_032043.3(BRIP1):c.2906-1G>A
|
rs773639563
|
0.00001
|
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
|
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val)
|
rs770352467
|
0.00001
|
|
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)
|
rs730881627
|
0.00001
|
|
NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)
|
rs2061326120
|
0.00001
|
|
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)
|
rs781121675
|
0.00001
|
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
0.00001
|
|
NM_032043.3(BRIP1):c.2957C>G (p.Ser986Cys)
|
rs182087528
|
0.00001
|
|
NM_032043.3(BRIP1):c.2979C>G (p.Phe993Leu)
|
rs1060501756
|
0.00001
|
|
NM_032043.3(BRIP1):c.2995A>G (p.Arg999Gly)
|
rs2061323811
|
0.00001
|
|
NM_032043.3(BRIP1):c.29T>C (p.Ile10Thr)
|
rs786203418
|
0.00001
|
|
NM_032043.3(BRIP1):c.3037A>G (p.Thr1013Ala)
|
rs1278002478
|
0.00001
|
|
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)
|
rs1372474933
|
0.00001
|
|
NM_032043.3(BRIP1):c.3043A>G (p.Lys1015Glu)
|
rs769692303
|
0.00001
|
|
NM_032043.3(BRIP1):c.3045A>G (p.Lys1015=)
|
rs1555572892
|
0.00001
|
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
|
NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)
|
rs1064793073
|
0.00001
|
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
|
NM_032043.3(BRIP1):c.3071G>T (p.Gly1024Val)
|
rs587781744
|
0.00001
|
|
NM_032043.3(BRIP1):c.3075A>T (p.Ser1025=)
|
rs1060504319
|
0.00001
|
|
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile)
|
rs1060501762
|
0.00001
|
|
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)
|
rs937490699
|
0.00001
|
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
|
NM_032043.3(BRIP1):c.3101C>T (p.Pro1034Leu)
|
rs1199923024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)
|
rs761225576
|
0.00001
|
|
NM_032043.3(BRIP1):c.3139T>C (p.Leu1047=)
|
rs1060504333
|
0.00001
|
|
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)
|
rs786203344
|
0.00001
|
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
|
NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu)
|
rs1285783476
|
0.00001
|
|
NM_032043.3(BRIP1):c.315A>G (p.Ser105=)
|
rs1555617827
|
0.00001
|
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
|
NM_032043.3(BRIP1):c.3187T>C (p.Ser1063Pro)
|
rs2061317060
|
0.00001
|
|
NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu)
|
rs1567728809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3199T>A (p.Cys1067Ser)
|
rs878855153
|
0.00001
|
|
NM_032043.3(BRIP1):c.320A>G (p.His107Arg)
|
rs876659809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile)
|
rs786204068
|
0.00001
|
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
0.00001
|
|
NM_032043.3(BRIP1):c.3234G>A (p.Lys1078=)
|
rs570238270
|
0.00001
|
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
|
NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn)
|
rs786204230
|
0.00001
|
|
NM_032043.3(BRIP1):c.3243C>T (p.Ala1081=)
|
rs754003636
|
0.00001
|
|
NM_032043.3(BRIP1):c.3252T>C (p.Thr1084=)
|
rs1555572745
|
0.00001
|
|
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser)
|
rs786202024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)
|
rs878855154
|
0.00001
|
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg)
|
rs776129117
|
0.00001
|
|
NM_032043.3(BRIP1):c.3273T>G (p.His1091Gln)
|
rs1281827397
|
0.00001
|
|
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser)
|
rs768065626
|
0.00001
|
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
|
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=)
|
rs375911315
|
0.00001
|
|
NM_032043.3(BRIP1):c.328_333dup (p.Tyr110_Pro111dup)
|
rs1423363607
|
0.00001
|
|
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala)
|
rs876658746
|
0.00001
|
|
NM_032043.3(BRIP1):c.3306C>T (p.Asp1102=)
|
rs1220971956
|
0.00001
|
|
NM_032043.3(BRIP1):c.3308T>A (p.Ile1103Asn)
|
rs781102464
|
0.00001
|
|
NM_032043.3(BRIP1):c.3326G>A (p.Ser1109Asn)
|
rs2061311430
|
0.00001
|
|
NM_032043.3(BRIP1):c.3354T>C (p.Asn1118=)
|
rs757427210
|
0.00001
|
|
NM_032043.3(BRIP1):c.3381T>C (p.Asp1127=)
|
rs1403990854
|
0.00001
|
|
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)
|
rs786202549
|
0.00001
|
|
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)
|
rs778480809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3441T>G (p.Asn1147Lys)
|
rs1603275034
|
0.00001
|
|
NM_032043.3(BRIP1):c.3448G>C (p.Ala1150Pro)
|
rs757363615
|
0.00001
|
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
|
NM_032043.3(BRIP1):c.3468T>C (p.Asn1156=)
|
rs747624574
|
0.00001
|
|
NM_032043.3(BRIP1):c.3492C>A (p.Cys1164Ter)
|
rs2061304701
|
0.00001
|
|
NM_032043.3(BRIP1):c.3493A>C (p.Ile1165Leu)
|
rs771889454
|
0.00001
|
|
NM_032043.3(BRIP1):c.3499G>A (p.Ala1167Thr)
|
rs1555572570
|
0.00001
|
|
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr)
|
rs587782029
|
0.00001
|
|
NM_032043.3(BRIP1):c.3507C>A (p.Asp1169Glu)
|
rs375741316
|
0.00001
|
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
|
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)
|
rs756313788
|
0.00001
|
|
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)
|
rs752850661
|
0.00001
|
|
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)
|
rs766709841
|
0.00001
|
|
NM_032043.3(BRIP1):c.3578C>T (p.Thr1193Ile)
|
rs1368343911
|
0.00001
|
|
NM_032043.3(BRIP1):c.357T>C (p.Asn119=)
|
rs786202477
|
0.00001
|
|
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)
|
rs776010326
|
0.00001
|
|
NM_032043.3(BRIP1):c.361A>G (p.Thr121Ala)
|
rs1567874478
|
0.00001
|
|
NM_032043.3(BRIP1):c.3620A>T (p.Asp1207Val)
|
rs139539831
|
0.00001
|
|
NM_032043.3(BRIP1):c.3636T>C (p.Asn1212=)
|
rs374392860
|
0.00001
|
|
NM_032043.3(BRIP1):c.3681T>C (p.His1227=)
|
rs370581038
|
0.00001
|
|
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)
|
rs1046992728
|
0.00001
|
|
NM_032043.3(BRIP1):c.3699C>A (p.Asn1233Lys)
|
rs1060501734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=)
|
rs758809865
|
0.00001
|
|
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)
|
rs587780250
|
0.00001
|
|
NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser)
|
rs1196057129
|
0.00001
|
|
NM_032043.3(BRIP1):c.3743T>G (p.Phe1248Cys)
|
rs763579793
|
0.00001
|
|
NM_032043.3(BRIP1):c.379G>A (p.Asp127Asn)
|
rs1311206718
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-10C>T
|
rs1187614578
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-11A>G
|
rs1407822955
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-20T>C
|
rs748849028
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-7A>G
|
rs748143260
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-9T>C
|
rs876661141
|
0.00001
|
|
NM_032043.3(BRIP1):c.412T>C (p.Leu138=)
|
rs786201292
|
0.00001
|
|
NM_032043.3(BRIP1):c.426A>G (p.Lys142=)
|
rs768008017
|
0.00001
|
|
NM_032043.3(BRIP1):c.448G>A (p.Glu150Lys)
|
rs762701532
|
0.00001
|
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
|
NM_032043.3(BRIP1):c.507+19C>T
|
rs1057520658
|
0.00001
|
|
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser)
|
rs1265322103
|
0.00001
|
|
NM_032043.3(BRIP1):c.51T>C (p.Phe17=)
|
rs762827371
|
0.00001
|
|
NM_032043.3(BRIP1):c.537A>G (p.Glu179=)
|
rs775509896
|
0.00001
|
|
NM_032043.3(BRIP1):c.53C>T (p.Pro18Leu)
|
rs1415589484
|
0.00001
|
|
NM_032043.3(BRIP1):c.569G>A (p.Gly190Glu)
|
rs756269682
|
0.00001
|
|
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)
|
rs876660880
|
0.00001
|
|
NM_032043.3(BRIP1):c.570A>G (p.Gly190=)
|
rs1368897810
|
0.00001
|
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+16A>G
|
rs1428730008
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-10T>A
|
rs375646029
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-11C>G
|
rs762672738
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-20G>A
|
rs533827333
|
0.00001
|
|
NM_032043.3(BRIP1):c.630C>G (p.Pro210=)
|
rs864622510
|
0.00001
|
|
NM_032043.3(BRIP1):c.641G>C (p.Cys214Ser)
|
rs779409059
|
0.00001
|
|
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg)
|
rs730881630
|
0.00001
|
|
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg)
|
rs786203708
|
0.00001
|
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
|
NM_032043.3(BRIP1):c.684G>A (p.Glu228=)
|
rs876659909
|
0.00001
|
|
NM_032043.3(BRIP1):c.68C>T (p.Pro23Leu)
|
rs1292425366
|
0.00001
|
|
NM_032043.3(BRIP1):c.705G>A (p.Lys235=)
|
rs1332585999
|
0.00001
|
|
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro)
|
rs1490001091
|
0.00001
|
|
NM_032043.3(BRIP1):c.714A>G (p.Thr238=)
|
rs548018916
|
0.00001
|
|
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)
|
rs771542690
|
0.00001
|
|
NM_032043.3(BRIP1):c.732C>A (p.Pro244=)
|
rs786202300
|
0.00001
|
|
NM_032043.3(BRIP1):c.750A>G (p.Thr250=)
|
rs1057522393
|
0.00001
|
|
NM_032043.3(BRIP1):c.752G>A (p.Arg251His)
|
rs780834054
|
0.00001
|
|
NM_032043.3(BRIP1):c.753C>T (p.Arg251=)
|
rs876659416
|
0.00001
|
|
NM_032043.3(BRIP1):c.773A>G (p.Gln258Arg)
|
rs1567838078
|
0.00001
|
|
NM_032043.3(BRIP1):c.774G>C (p.Gln258His)
|
rs1198536492
|
0.00001
|
|
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
|
NM_032043.3(BRIP1):c.795G>A (p.Arg265=)
|
rs61754143
|
0.00001
|
|
NM_032043.3(BRIP1):c.799G>A (p.Ala267Thr)
|
rs865910081
|
0.00001
|
|
NM_032043.3(BRIP1):c.808G>T (p.Gly270Trp)
|
rs1401241698
|
0.00001
|
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
|
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser)
|
rs45624635
|
0.00001
|
|
NM_032043.3(BRIP1):c.867C>T (p.Val289=)
|
rs147739458
|
0.00001
|
|
NM_032043.3(BRIP1):c.869G>A (p.Gly290Asp)
|
rs148556781
|
0.00001
|
|
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)
|
rs746599076
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-10T>G
|
rs748497834
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-17T>C
|
rs770416347
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-8G>T
|
rs777079928
|
0.00001
|
|
NM_032043.3(BRIP1):c.93+13C>T
|
rs2078970776
|
0.00001
|
|
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys)
|
rs587782731
|
0.00001
|
|
NM_032043.3(BRIP1):c.963T>A (p.Asp321Glu)
|
rs1555607779
|
0.00001
|
|
NM_032043.3(BRIP1):c.972A>T (p.Thr324=)
|
rs779627397
|
0.00001
|
|
NM_032043.3(BRIP1):c.975A>G (p.Leu325=)
|
rs771630777
|
0.00001
|
|
NM_032043.3(BRIP1):c.97C>T (p.Leu33Phe)
|
rs772319724
|
0.00001
|
|
NM_032043.3(BRIP1):c.984C>T (p.Phe328=)
|
rs745379285
|
0.00001
|
|
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu)
|
rs1380876424
|
0.00001
|
|
NM_032444.4(SLX4):c.1011G>A (p.Pro337=)
|
rs778310070
|
0.00001
|
|
NM_032444.4(SLX4):c.1026G>A (p.Pro342=)
|
rs755211335
|
0.00001
|
|
NM_032444.4(SLX4):c.1034C>A (p.Thr345Asn)
|
rs751770341
|
0.00001
|
|
NM_032444.4(SLX4):c.1054C>T (p.His352Tyr)
|
rs1247465227
|
0.00001
|
|
NM_032444.4(SLX4):c.1109C>T (p.Ala370Val)
|
rs189224493
|
0.00001
|
|
NM_032444.4(SLX4):c.111C>A (p.Ser37Arg)
|
rs188729744
|
0.00001
|
|
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe)
|
rs141167501
|
0.00001
|
|
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp)
|
rs1052888437
|
0.00001
|
|
NM_032444.4(SLX4):c.1140T>C (p.Gly380=)
|
rs1255116355
|
0.00001
|
|
NM_032444.4(SLX4):c.1143C>T (p.Ser381=)
|
rs1398627485
|
0.00001
|
|
NM_032444.4(SLX4):c.1155C>T (p.Pro385=)
|
rs763763182
|
0.00001
|
|
NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys)
|
rs199774640
|
0.00001
|
|
NM_032444.4(SLX4):c.1163+11G>A
|
rs2040719573
|
0.00001
|
|
NM_032444.4(SLX4):c.1163+5G>A
|
rs762454252
|
0.00001
|
|
NM_032444.4(SLX4):c.1163+7C>T
|
rs1367462435
|
0.00001
|
|
NM_032444.4(SLX4):c.1178G>A (p.Ser393Asn)
|
rs112301713
|
0.00001
|
|
NM_032444.4(SLX4):c.1179T>C (p.Ser393=)
|
rs772030041
|
0.00001
|
|
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu)
|
rs202204661
|
0.00001
|
|
NM_032444.4(SLX4):c.1251G>A (p.Pro417=)
|
rs780972710
|
0.00001
|
|
NM_032444.4(SLX4):c.1284C>T (p.Ser428=)
|
rs2040683174
|
0.00001
|
|
NM_032444.4(SLX4):c.1285C>T (p.Arg429Trp)
|
rs532023958
|
0.00001
|
|
NM_032444.4(SLX4):c.1301C>T (p.Pro434Leu)
|
rs763337738
|
0.00001
|
|
NM_032444.4(SLX4):c.1308G>A (p.Ala436=)
|
rs147915773
|
0.00001
|
|
NM_032444.4(SLX4):c.1320G>A (p.Ala440=)
|
rs776448104
|
0.00001
|
|
NM_032444.4(SLX4):c.1366+7G>A
|
rs199889969
|
0.00001
|
|
NM_032444.4(SLX4):c.1367-18G>A
|
rs771618757
|
0.00001
|
|
NM_032444.4(SLX4):c.13G>A (p.Val5Met)
|
rs750091754
|
0.00001
|
|
NM_032444.4(SLX4):c.1407A>G (p.Pro469=)
|
rs1567174102
|
0.00001
|
|
NM_032444.4(SLX4):c.1429G>C (p.Glu477Gln)
|
rs748957904
|
0.00001
|
|
NM_032444.4(SLX4):c.1437A>G (p.Thr479=)
|
rs376641868
|
0.00001
|
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
|
NM_032444.4(SLX4):c.1456C>T (p.Arg486Cys)
|
rs1483311055
|
0.00001
|
|
NM_032444.4(SLX4):c.1457G>A (p.Arg486His)
|
rs558236399
|
0.00001
|
|
NM_032444.4(SLX4):c.1462G>A (p.Ala488Thr)
|
rs2040677379
|
0.00001
|
|
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser)
|
rs200337039
|
0.00001
|
|
NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe)
|
rs1326014010
|
0.00001
|
|
NM_032444.4(SLX4):c.1537T>C (p.Trp513Arg)
|
rs769495113
|
0.00001
|
|
NM_032444.4(SLX4):c.1555T>C (p.Cys519Arg)
|
rs746419738
|
0.00001
|
|
NM_032444.4(SLX4):c.1597G>C (p.Gly533Arg)
|
rs200437227
|
0.00001
|
|
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr)
|
rs776394340
|
0.00001
|
|
NM_032444.4(SLX4):c.1629G>A (p.Glu543=)
|
rs749696604
|
0.00001
|
|
NM_032444.4(SLX4):c.1630G>A (p.Asp544Asn)
|
rs773395054
|
0.00001
|
|
NM_032444.4(SLX4):c.1639A>C (p.Thr547Pro)
|
rs781416857
|
0.00001
|
|
NM_032444.4(SLX4):c.1647G>A (p.Arg549=)
|
rs1596527389
|
0.00001
|
|
NM_032444.4(SLX4):c.1673G>A (p.Arg558Gln)
|
rs773558127
|
0.00001
|
|
NM_032444.4(SLX4):c.1683+15T>C
|
rs1215077519
|
0.00001
|
|
NM_032444.4(SLX4):c.1684-15dup
|
rs1434348843
|
0.00001
|
|
NM_032444.4(SLX4):c.1691T>C (p.Met564Thr)
|
rs1315121473
|
0.00001
|
|
NM_032444.4(SLX4):c.1698G>A (p.Glu566=)
|
rs1284128847
|
0.00001
|
|
NM_032444.4(SLX4):c.1714G>A (p.Val572Met)
|
rs745678074
|
0.00001
|
|
NM_032444.4(SLX4):c.1715T>A (p.Val572Glu)
|
rs551757021
|
0.00001
|
|
NM_032444.4(SLX4):c.171C>T (p.Ser57=)
|
rs1193950128
|
0.00001
|
|
NM_032444.4(SLX4):c.1734G>A (p.Glu578=)
|
rs777492094
|
0.00001
|
|
NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn)
|
rs755653940
|
0.00001
|
|
NM_032444.4(SLX4):c.1745G>A (p.Arg582Gln)
|
rs755044096
|
0.00001
|
|
NM_032444.4(SLX4):c.1753C>T (p.Pro585Ser)
|
rs2040658116
|
0.00001
|
|
NM_032444.4(SLX4):c.1765G>A (p.Gly589Ser)
|
rs553750741
|
0.00001
|
|
NM_032444.4(SLX4):c.1795G>T (p.Gly599Cys)
|
rs770845528
|
0.00001
|
|
NM_032444.4(SLX4):c.1805C>T (p.Pro602Leu)
|
rs956483964
|
0.00001
|
|
NM_032444.4(SLX4):c.1810G>A (p.Ala604Thr)
|
rs2040655815
|
0.00001
|
|
NM_032444.4(SLX4):c.1811C>G (p.Ala604Gly)
|
rs953252183
|
0.00001
|
|
NM_032444.4(SLX4):c.1841A>T (p.Asp614Val)
|
rs966027727
|
0.00001
|
|
NM_032444.4(SLX4):c.1845C>T (p.Leu615=)
|
rs1056084
|
0.00001
|
|
NM_032444.4(SLX4):c.1856C>T (p.Ala619Val)
|
rs371325486
|
0.00001
|
|
NM_032444.4(SLX4):c.1872C>T (p.Ser624=)
|
rs767618166
|
0.00001
|
|
NM_032444.4(SLX4):c.1900C>T (p.Leu634=)
|
rs768182554
|
0.00001
|
|
NM_032444.4(SLX4):c.1910C>T (p.Ser637Leu)
|
rs200475686
|
0.00001
|
|
NM_032444.4(SLX4):c.1919C>A (p.Thr640Asn)
|
rs1340467468
|
0.00001
|
|
NM_032444.4(SLX4):c.1933G>A (p.Val645Met)
|
rs769084265
|
0.00001
|
|
NM_032444.4(SLX4):c.194A>G (p.His65Arg)
|
rs1003415542
|
0.00001
|
|
NM_032444.4(SLX4):c.1952C>T (p.Pro651Leu)
|
rs1490630727
|
0.00001
|
|
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu)
|
rs372150541
|
0.00001
|
|
NM_032444.4(SLX4):c.1992G>A (p.Pro664=)
|
rs770441819
|
0.00001
|
|
NM_032444.4(SLX4):c.199A>G (p.Ile67Val)
|
rs751802145
|
0.00001
|
|
NM_032444.4(SLX4):c.2020C>T (p.Leu674Phe)
|
rs777279668
|
0.00001
|
|
NM_032444.4(SLX4):c.2021T>G (p.Leu674Arg)
|
rs889646690
|
0.00001
|
|
NM_032444.4(SLX4):c.2038G>C (p.Asp680His)
|
rs1041739465
|
0.00001
|
|
NM_032444.4(SLX4):c.2090C>T (p.Thr697Met)
|
rs554989399
|
0.00001
|
|
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu)
|
rs373081094
|
0.00001
|
|
NM_032444.4(SLX4):c.2114C>T (p.Ala705Val)
|
rs1262656321
|
0.00001
|
|
NM_032444.4(SLX4):c.2118C>T (p.His706=)
|
rs371401752
|
0.00001
|
|
NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe)
|
rs768477511
|
0.00001
|
|
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)
|
rs760126773
|
0.00001
|
|
NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser)
|
rs770015489
|
0.00001
|
|
NM_032444.4(SLX4):c.2166C>T (p.Asn722=)
|
rs767528538
|
0.00001
|
|
NM_032444.4(SLX4):c.2227G>A (p.Val743Met)
|
rs747832147
|
0.00001
|
|
NM_032444.4(SLX4):c.2236G>A (p.Glu746Lys)
|
rs758785487
|
0.00001
|
|
NM_032444.4(SLX4):c.2242G>A (p.Ala748Thr)
|
rs373178144
|
0.00001
|
|
NM_032444.4(SLX4):c.2245C>T (p.Arg749Cys)
|
rs753926402
|
0.00001
|
|
NM_032444.4(SLX4):c.2269A>G (p.Thr757Ala)
|
rs1567171612
|
0.00001
|
|
NM_032444.4(SLX4):c.2273C>T (p.Ala758Val)
|
rs747563780
|
0.00001
|
|
NM_032444.4(SLX4):c.2274G>A (p.Ala758=)
|
rs780854919
|
0.00001
|
|
NM_032444.4(SLX4):c.2289T>C (p.Pro763=)
|
rs1389488864
|
0.00001
|
|
NM_032444.4(SLX4):c.2328-7G>A
|
rs761644117
|
0.00001
|
|
NM_032444.4(SLX4):c.2334C>T (p.Gly778=)
|
rs1235572029
|
0.00001
|
|
NM_032444.4(SLX4):c.2349T>C (p.Val783=)
|
rs1229447712
|
0.00001
|
|
NM_032444.4(SLX4):c.2360A>G (p.Glu787Gly)
|
rs1596522964
|
0.00001
|
|
NM_032444.4(SLX4):c.2389G>A (p.Gly797Ser)
|
rs373595621
|
0.00001
|
|
NM_032444.4(SLX4):c.2412A>G (p.Glu804=)
|
rs753755892
|
0.00001
|
|
NM_032444.4(SLX4):c.2421T>C (p.Asn807=)
|
rs760214045
|
0.00001
|
|
NM_032444.4(SLX4):c.2425G>A (p.Glu809Lys)
|
rs546657275
|
0.00001
|
|
NM_032444.4(SLX4):c.2432G>A (p.Arg811Lys)
|
rs778547872
|
0.00001
|
|
NM_032444.4(SLX4):c.2438A>G (p.Glu813Gly)
|
rs748712996
|
0.00001
|
|
NM_032444.4(SLX4):c.2455T>C (p.Leu819=)
|
rs2040589478
|
0.00001
|
|
NM_032444.4(SLX4):c.2464A>G (p.Met822Val)
|
rs779985555
|
0.00001
|
|
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)
|
rs1267428175
|
0.00001
|
|
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)
|
rs200319106
|
0.00001
|
|
NM_032444.4(SLX4):c.2489C>T (p.Ala830Val)
|
rs757069261
|
0.00001
|
|
NM_032444.4(SLX4):c.2499G>T (p.Leu833Phe)
|
rs764020001
|
0.00001
|
|
NM_032444.4(SLX4):c.2513A>G (p.Asp838Gly)
|
rs1060501794
|
0.00001
|
|
NM_032444.4(SLX4):c.2517C>T (p.His839=)
|
rs766929821
|
0.00001
|
|
NM_032444.4(SLX4):c.2518G>A (p.Glu840Lys)
|
rs759271070
|
0.00001
|
|
NM_032444.4(SLX4):c.2557G>C (p.Glu853Gln)
|
rs1465800756
|
0.00001
|
|
NM_032444.4(SLX4):c.2579C>T (p.Thr860Ile)
|
rs747515305
|
0.00001
|
|
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
|
rs200715208
|
0.00001
|
|
NM_032444.4(SLX4):c.2606G>C (p.Arg869Thr)
|
rs779039237
|
0.00001
|
|
NM_032444.4(SLX4):c.2621G>A (p.Gly874Asp)
|
rs150402424
|
0.00001
|
|
NM_032444.4(SLX4):c.2629G>A (p.Ala877Thr)
|
rs761296000
|
0.00001
|
|
NM_032444.4(SLX4):c.2682C>T (p.Val894=)
|
rs751088370
|
0.00001
|
|
NM_032444.4(SLX4):c.2684A>G (p.Gln895Arg)
|
rs779708181
|
0.00001
|
|
NM_032444.4(SLX4):c.2724G>A (p.Pro908=)
|
rs760071419
|
0.00001
|
|
NM_032444.4(SLX4):c.2725T>C (p.Leu909=)
|
rs774477719
|
0.00001
|
|
NM_032444.4(SLX4):c.2776T>C (p.Cys926Arg)
|
rs201703364
|
0.00001
|
|
NM_032444.4(SLX4):c.2778C>T (p.Cys926=)
|
rs375872764
|
0.00001
|
|
NM_032444.4(SLX4):c.2779G>A (p.Ala927Thr)
|
rs767916829
|
0.00001
|
|
NM_032444.4(SLX4):c.2784C>T (p.Leu928=)
|
rs372754390
|
0.00001
|
|
NM_032444.4(SLX4):c.279C>G (p.Thr93=)
|
rs543091261
|
0.00001
|
|
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs)
|
rs767631456
|
0.00001
|
|
NM_032444.4(SLX4):c.2828C>A (p.Ala943Asp)
|
rs745380963
|
0.00001
|
|
NM_032444.4(SLX4):c.2850G>A (p.Glu950=)
|
rs751882942
|
0.00001
|
|
NM_032444.4(SLX4):c.2856G>A (p.Ala952=)
|
rs1434868021
|
0.00001
|
|
NM_032444.4(SLX4):c.2889G>A (p.Arg963=)
|
rs201978747
|
0.00001
|
|
NM_032444.4(SLX4):c.2892C>G (p.Asp964Glu)
|
rs1311904834
|
0.00001
|
|
NM_032444.4(SLX4):c.2896C>G (p.Gln966Glu)
|
rs770456496
|
0.00001
|
|
NM_032444.4(SLX4):c.2902G>C (p.Glu968Gln)
|
rs777514343
|
0.00001
|
|
NM_032444.4(SLX4):c.2925G>A (p.Pro975=)
|
rs1431725463
|
0.00001
|
|
NM_032444.4(SLX4):c.2928C>G (p.His976Gln)
|
rs1054086781
|
0.00001
|
|
NM_032444.4(SLX4):c.2964A>G (p.Ser988=)
|
rs1596522182
|
0.00001
|
|
NM_032444.4(SLX4):c.3004A>G (p.Ser1002Gly)
|
rs1047744954
|
0.00001
|
|
NM_032444.4(SLX4):c.3041G>A (p.Arg1014Lys)
|
rs756448789
|
0.00001
|
|
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=)
|
rs1391997347
|
0.00001
|
|
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=)
|
rs1313995893
|
0.00001
|
|
NM_032444.4(SLX4):c.3122A>T (p.Gln1041Leu)
|
rs1384033342
|
0.00001
|
|
NM_032444.4(SLX4):c.3124G>C (p.Gly1042Arg)
|
rs750349545
|
0.00001
|
|
NM_032444.4(SLX4):c.3139G>A (p.Gly1047Arg)
|
rs561815282
|
0.00001
|
|
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)
|
rs1484366381
|
0.00001
|
|
NM_032444.4(SLX4):c.3188G>A (p.Gly1063Asp)
|
rs750149671
|
0.00001
|
|
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg)
|
rs368657696
|
0.00001
|
|
NM_032444.4(SLX4):c.3269C>T (p.Thr1090Met)
|
rs780143733
|
0.00001
|
|
NM_032444.4(SLX4):c.3307C>T (p.Arg1103Cys)
|
rs200708159
|
0.00001
|
|
NM_032444.4(SLX4):c.3308G>A (p.Arg1103His)
|
rs201618094
|
0.00001
|
|
NM_032444.4(SLX4):c.3363T>C (p.Ser1121=)
|
rs770731522
|
0.00001
|
|
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)
|
rs201582780
|
0.00001
|
|
NM_032444.4(SLX4):c.3370A>G (p.Ile1124Val)
|
rs766081510
|
0.00001
|
|
NM_032444.4(SLX4):c.3371T>C (p.Ile1124Thr)
|
rs2040567955
|
0.00001
|
|
NM_032444.4(SLX4):c.3388A>G (p.Asn1130Asp)
|
rs1276163880
|
0.00001
|
|
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr)
|
rs1391353238
|
0.00001
|
|
NM_032444.4(SLX4):c.3470C>T (p.Ser1157Leu)
|
rs769688259
|
0.00001
|
|
NM_032444.4(SLX4):c.3507G>A (p.Lys1169=)
|
rs183926603
|
0.00001
|
|
NM_032444.4(SLX4):c.3566G>A (p.Cys1189Tyr)
|
rs766648339
|
0.00001
|
|
NM_032444.4(SLX4):c.3578C>T (p.Ser1193Phe)
|
rs368695839
|
0.00001
|
|
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=)
|
rs112016711
|
0.00001
|
|
NM_032444.4(SLX4):c.3594T>C (p.Asp1198=)
|
rs1238819543
|
0.00001
|
|
NM_032444.4(SLX4):c.3605A>G (p.Glu1202Gly)
|
rs1414947508
|
0.00001
|
|
NM_032444.4(SLX4):c.3631G>A (p.Glu1211Lys)
|
rs202032197
|
0.00001
|
|
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr)
|
rs574844562
|
0.00001
|
|
NM_032444.4(SLX4):c.3650A>G (p.Glu1217Gly)
|
rs761680381
|
0.00001
|
|
NM_032444.4(SLX4):c.3673A>G (p.Asn1225Asp)
|
rs878855161
|
0.00001
|
|
NM_032444.4(SLX4):c.3676_3678dup (p.Arg1226dup)
|
rs1567169873
|
0.00001
|
|
NM_032444.4(SLX4):c.3683C>A (p.Ser1228Tyr)
|
rs755523528
|
0.00001
|
|
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg)
|
rs760493361
|
0.00001
|
|
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys)
|
rs771835799
|
0.00001
|
|
NM_032444.4(SLX4):c.3739G>A (p.Glu1247Lys)
|
rs978074181
|
0.00001
|
|
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=)
|
rs769032315
|
0.00001
|
|
NM_032444.4(SLX4):c.3761C>T (p.Ser1254Leu)
|
rs750580998
|
0.00001
|
|
NM_032444.4(SLX4):c.37T>C (p.Tyr13His)
|
rs2040817612
|
0.00001
|
|
NM_032444.4(SLX4):c.3800G>A (p.Arg1267His)
|
rs775711964
|
0.00001
|
|
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser)
|
rs779426291
|
0.00001
|
|
NM_032444.4(SLX4):c.3810T>C (p.Ser1270=)
|
rs563781078
|
0.00001
|
|
NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly)
|
rs1252550783
|
0.00001
|
|
NM_032444.4(SLX4):c.3858G>A (p.Ala1286=)
|
rs771503932
|
0.00001
|
|
NM_032444.4(SLX4):c.3894C>G (p.Asn1298Lys)
|
rs1260811996
|
0.00001
|
|
NM_032444.4(SLX4):c.3894C>T (p.Asn1298=)
|
rs1260811996
|
0.00001
|
|
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)
|
rs763914156
|
0.00001
|
|
NM_032444.4(SLX4):c.3906C>T (p.Asn1302=)
|
rs763731687
|
0.00001
|
|
NM_032444.4(SLX4):c.3907G>A (p.Glu1303Lys)
|
rs759828401
|
0.00001
|
|
NM_032444.4(SLX4):c.3912C>T (p.Val1304=)
|
rs140254478
|
0.00001
|
|
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe)
|
rs556682517
|
0.00001
|
|
NM_032444.4(SLX4):c.3931A>G (p.Ile1311Val)
|
rs1196234101
|
0.00001
|
|
NM_032444.4(SLX4):c.3981C>T (p.Pro1327=)
|
rs752013274
|
0.00001
|
|
NM_032444.4(SLX4):c.4019A>G (p.His1340Arg)
|
rs776760390
|
0.00001
|
|
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro)
|
rs745595506
|
0.00001
|
|
NM_032444.4(SLX4):c.4055C>T (p.Pro1352Leu)
|
rs144720266
|
0.00001
|
|
NM_032444.4(SLX4):c.4056G>A (p.Pro1352=)
|
rs768415277
|
0.00001
|
|
NM_032444.4(SLX4):c.4066C>G (p.Pro1356Ala)
|
rs532756081
|
0.00001
|
|
NM_032444.4(SLX4):c.4078C>T (p.His1360Tyr)
|
rs1282208383
|
0.00001
|
|
NM_032444.4(SLX4):c.4079A>T (p.His1360Leu)
|
rs1060501793
|
0.00001
|
|
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys)
|
rs368434737
|
0.00001
|
|
NM_032444.4(SLX4):c.4098C>T (p.Arg1366=)
|
rs770811758
|
0.00001
|
|
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu)
|
rs770241338
|
0.00001
|
|
NM_032444.4(SLX4):c.4134G>A (p.Pro1378=)
|
rs760757846
|
0.00001
|
|
NM_032444.4(SLX4):c.4182A>G (p.Glu1394=)
|
rs1232843058
|
0.00001
|
|
NM_032444.4(SLX4):c.4197C>T (p.Asp1399=)
|
rs146079010
|
0.00001
|
|
NM_032444.4(SLX4):c.423G>A (p.Gly141=)
|
rs111405249
|
0.00001
|
|
NM_032444.4(SLX4):c.4240C>G (p.Pro1414Ala)
|
rs2040548472
|
0.00001
|
|
NM_032444.4(SLX4):c.424G>C (p.Gly142Arg)
|
rs773117024
|
0.00001
|
|
NM_032444.4(SLX4):c.429G>A (p.Val143=)
|
rs747624579
|
0.00001
|
|
NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln)
|
rs756660911
|
0.00001
|
|
NM_032444.4(SLX4):c.4339G>A (p.Gly1447Ser)
|
rs371090786
|
0.00001
|
|
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)
|
rs373300793
|
0.00001
|
|
NM_032444.4(SLX4):c.4359C>T (p.Ser1453=)
|
rs776711072
|
0.00001
|
|
NM_032444.4(SLX4):c.4383C>T (p.Ala1461=)
|
rs556719111
|
0.00001
|
|
NM_032444.4(SLX4):c.4386C>T (p.Ala1462=)
|
rs747185125
|
0.00001
|
|
NM_032444.4(SLX4):c.4397A>G (p.Asp1466Gly)
|
rs753668854
|
0.00001
|
|
NM_032444.4(SLX4):c.4410G>A (p.Pro1470=)
|
rs1555449966
|
0.00001
|
|
NM_032444.4(SLX4):c.4415T>C (p.Leu1472Pro)
|
rs938457122
|
0.00001
|
|
NM_032444.4(SLX4):c.4483G>A (p.Ala1495Thr)
|
rs762565535
|
0.00001
|
|
NM_032444.4(SLX4):c.4496G>A (p.Gly1499Glu)
|
rs1231411840
|
0.00001
|
|
NM_032444.4(SLX4):c.4524G>A (p.Ser1508=)
|
rs1423670990
|
0.00001
|
|
NM_032444.4(SLX4):c.4536C>T (p.Asp1512=)
|
rs1212941188
|
0.00001
|
|
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)
|
rs775915651
|
0.00001
|
|
NM_032444.4(SLX4):c.4552G>A (p.Glu1518Lys)
|
rs760096901
|
0.00001
|
|
NM_032444.4(SLX4):c.4563T>C (p.Pro1521=)
|
rs200225783
|
0.00001
|
|
NM_032444.4(SLX4):c.4597G>A (p.Ala1533Thr)
|
rs200377191
|
0.00001
|
|
NM_032444.4(SLX4):c.4607C>T (p.Ala1536Val)
|
rs759939338
|
0.00001
|
|
NM_032444.4(SLX4):c.460C>T (p.Arg154Trp)
|
rs141639275
|
0.00001
|
|
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)
|
rs769950582
|
0.00001
|
|
NM_032444.4(SLX4):c.4636+10C>G
|
rs757181978
|
0.00001
|
|
NM_032444.4(SLX4):c.4683G>A (p.Thr1561=)
|
rs141196682
|
0.00001
|
|
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser)
|
rs893507870
|
0.00001
|
|
NM_032444.4(SLX4):c.4691C>G (p.Pro1564Arg)
|
rs1478218856
|
0.00001
|
|
NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe)
|
rs755754734
|
0.00001
|
|
NM_032444.4(SLX4):c.4714C>G (p.Pro1572Ala)
|
rs753904877
|
0.00001
|
|
NM_032444.4(SLX4):c.4739+1G>T
|
rs759186986
|
0.00001
|
|
NM_032444.4(SLX4):c.4739+2T>C
|
rs774356384
|
0.00001
|
|
NM_032444.4(SLX4):c.4739+6C>T
|
rs770758859
|
0.00001
|
|
NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu)
|
rs148228302
|
0.00001
|
|
NM_032444.4(SLX4):c.4773G>A (p.Met1591Ile)
|
rs757589951
|
0.00001
|
|
NM_032444.4(SLX4):c.4780A>C (p.Lys1594Gln)
|
rs1567166631
|
0.00001
|
|
NM_032444.4(SLX4):c.4797C>T (p.Phe1599=)
|
rs1159059195
|
0.00001
|
|
NM_032444.4(SLX4):c.4815C>G (p.Thr1605=)
|
rs752758310
|
0.00001
|
|
NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala)
|
rs1480904013
|
0.00001
|
|
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=)
|
rs767845523
|
0.00001
|
|
NM_032444.4(SLX4):c.4845G>C (p.Gln1615His)
|
rs988625732
|
0.00001
|
|
NM_032444.4(SLX4):c.486G>A (p.Thr162=)
|
rs762711558
|
0.00001
|
|
NM_032444.4(SLX4):c.4880A>G (p.Gln1627Arg)
|
rs1346015743
|
0.00001
|
|
NM_032444.4(SLX4):c.4882A>T (p.Thr1628Ser)
|
rs201688321
|
0.00001
|
|
NM_032444.4(SLX4):c.4887C>T (p.Leu1629=)
|
rs761814315
|
0.00001
|
|
NM_032444.4(SLX4):c.4888G>A (p.Ala1630Thr)
|
rs776578234
|
0.00001
|
|
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
|
rs763539738
|
0.00001
|
|
NM_032444.4(SLX4):c.4898C>T (p.Thr1633Ile)
|
rs1173889397
|
0.00001
|
|
NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser)
|
rs145557355
|
0.00001
|
|
NM_032444.4(SLX4):c.4939G>A (p.Ala1647Thr)
|
rs2040464512
|
0.00001
|
|
NM_032444.4(SLX4):c.4947A>G (p.Thr1649=)
|
rs540634044
|
0.00001
|
|
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg)
|
rs200507644
|
0.00001
|
|
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)
|
rs1291935778
|
0.00001
|
|
NM_032444.4(SLX4):c.5056G>A (p.Ala1686Thr)
|
rs751219957
|
0.00001
|
|
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val)
|
rs761226343
|
0.00001
|
|
NM_032444.4(SLX4):c.5097T>A (p.Ser1699=)
|
rs202099433
|
0.00001
|
|
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn)
|
rs754498907
|
0.00001
|
|
NM_032444.4(SLX4):c.5153+7G>A
|
rs370334914
|
0.00001
|
|
NM_032444.4(SLX4):c.5186A>G (p.Glu1729Gly)
|
rs1203040904
|
0.00001
|
|
NM_032444.4(SLX4):c.5189C>G (p.Ser1730Cys)
|
rs376960842
|
0.00001
|
|
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=)
|
rs369714623
|
0.00001
|
|
NM_032444.4(SLX4):c.5223T>G (p.Ser1741Arg)
|
rs200262630
|
0.00001
|
|
NM_032444.4(SLX4):c.5278A>C (p.Ile1760Leu)
|
rs377648201
|
0.00001
|
|
NM_032444.4(SLX4):c.5289G>A (p.Lys1763=)
|
rs759412447
|
0.00001
|
|
NM_032444.4(SLX4):c.5304G>C (p.Gln1768His)
|
rs1555449297
|
0.00001
|
|
NM_032444.4(SLX4):c.5318A>G (p.Tyr1773Cys)
|
rs769567874
|
0.00001
|
|
NM_032444.4(SLX4):c.531C>G (p.Thr177=)
|
rs749641379
|
0.00001
|
|
NM_032444.4(SLX4):c.533G>T (p.Arg178Ile)
|
rs1216948562
|
0.00001
|
|
NM_032444.4(SLX4):c.5354T>C (p.Leu1785Pro)
|
rs562491450
|
0.00001
|
|
NM_032444.4(SLX4):c.536-12C>T
|
rs1190879833
|
0.00001
|
|
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser)
|
rs374876624
|
0.00001
|
|
NM_032444.4(SLX4):c.5384G>A (p.Arg1795His)
|
rs926700658
|
0.00001
|
|
NM_032444.4(SLX4):c.5386A>G (p.Arg1796Gly)
|
rs770529698
|
0.00001
|
|
NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr)
|
rs772332386
|
0.00001
|
|
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)
|
rs746191123
|
0.00001
|
|
NM_032444.4(SLX4):c.5436C>T (p.Ala1812=)
|
rs200473811
|
0.00001
|
|
NM_032444.4(SLX4):c.5445G>A (p.Arg1815=)
|
rs199998573
|
0.00001
|
|
NM_032444.4(SLX4):c.5497C>T (p.Arg1833Trp)
|
rs375100050
|
0.00001
|
|
NM_032444.4(SLX4):c.5498G>A (p.Arg1833Gln)
|
rs751456750
|
0.00001
|
|
NM_032444.4(SLX4):c.595A>G (p.Ser199Gly)
|
rs770098753
|
0.00001
|
|
NM_032444.4(SLX4):c.622T>A (p.Leu208Met)
|
rs1453789700
|
0.00001
|
|
NM_032444.4(SLX4):c.635G>A (p.Arg212Gln)
|
rs575953567
|
0.00001
|
|
NM_032444.4(SLX4):c.645G>A (p.Gln215=)
|
rs1449991903
|
0.00001
|
|
NM_032444.4(SLX4):c.702G>C (p.Glu234Asp)
|
rs201161027
|
0.00001
|
|
NM_032444.4(SLX4):c.755G>A (p.Gly252Glu)
|
rs1060501795
|
0.00001
|
|
NM_032444.4(SLX4):c.792C>T (p.Ser264=)
|
rs201383482
|
0.00001
|
|
NM_032444.4(SLX4):c.799G>A (p.Ala267Thr)
|
rs755289589
|
0.00001
|
|
NM_032444.4(SLX4):c.813C>T (p.Thr271=)
|
rs765351938
|
0.00001
|
|
NM_032444.4(SLX4):c.842C>G (p.Ala281Gly)
|
rs1263321133
|
0.00001
|
|
NM_032444.4(SLX4):c.843A>G (p.Ala281=)
|
rs1009573141
|
0.00001
|
|
NM_032444.4(SLX4):c.860G>T (p.Ser287Ile)
|
rs1264580208
|
0.00001
|
|
NM_032444.4(SLX4):c.860del (p.Ser287fs)
|
rs752720263
|
0.00001
|
|
NM_032444.4(SLX4):c.862C>A (p.Leu288Met)
|
rs777370394
|
0.00001
|
|
NM_032444.4(SLX4):c.874G>A (p.Gly292Ser)
|
rs780402573
|
0.00001
|
|
NM_032444.4(SLX4):c.888C>T (p.Cys296=)
|
rs758846114
|
0.00001
|
|
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg)
|
rs778643553
|
0.00001
|
|
NM_032444.4(SLX4):c.941A>G (p.His314Arg)
|
rs1274906202
|
0.00001
|
|
NM_032444.4(SLX4):c.950+7G>A
|
rs772672664
|
0.00001
|
|
NM_032444.4(SLX4):c.973A>T (p.Thr325Ser)
|
rs181942292
|
0.00001
|
|
NM_032444.4(SLX4):c.983C>T (p.Pro328Leu)
|
rs760336082
|
0.00001
|
|
NM_033022.4(RPS24):c.234C>T (p.Ser78=)
|
rs1177372076
|
0.00001
|
|
NM_033022.4(RPS24):c.23G>A (p.Arg8His)
|
rs1291294524
|
0.00001
|
|
NM_033022.4(RPS24):c.264A>G (p.Lys88=)
|
rs1476221269
|
0.00001
|
|
NM_033022.4(RPS24):c.279+2dup
|
rs1459887559
|
0.00001
|
|
NM_033022.4(RPS24):c.3+7C>T
|
rs759947869
|
0.00001
|
|
NM_033022.4(RPS24):c.324G>A (p.Lys108=)
|
rs746433565
|
0.00001
|
|
NM_033022.4(RPS24):c.333G>A (p.Lys111=)
|
rs144291219
|
0.00001
|
|
NM_033022.4(RPS24):c.390+14A>G
|
rs1158604804
|
0.00001
|
|
NM_033022.4(RPS24):c.390+3dup
|
rs780893174
|
0.00001
|
|
NM_033022.4(RPS24):c.7G>A (p.Asp3Asn)
|
rs772167568
|
0.00001
|
|
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg)
|
rs757084547
|
0.00001
|
|
NM_033022.4(RPS24):c.99G>A (p.Ala33=)
|
rs772511022
|
0.00001
|
|
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)
|
rs759292615
|
0.00001
|
|
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)
|
rs1057521598
|
0.00001
|
|
NM_058216.3(RAD51C):c.1016T>C (p.Phe339Ser)
|
rs1060502602
|
0.00001
|
|
NM_058216.3(RAD51C):c.1027-3C>T
|
rs587782459
|
0.00001
|
|
NM_058216.3(RAD51C):c.102T>G (p.Thr34=)
|
rs550757849
|
0.00001
|
|
NM_058216.3(RAD51C):c.1031A>G (p.Gln344Arg)
|
rs2049559372
|
0.00001
|
|
NM_058216.3(RAD51C):c.1043A>T (p.Asp348Val)
|
rs111614311
|
0.00001
|
|
NM_058216.3(RAD51C):c.1046C>T (p.Thr349Ile)
|
rs776823687
|
0.00001
|
|
NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile)
|
rs1160208500
|
0.00001
|
|
NM_058216.3(RAD51C):c.1055C>A (p.Thr352Asn)
|
rs786203771
|
0.00001
|
|
NM_058216.3(RAD51C):c.1061C>T (p.Ala354Val)
|
rs761770500
|
0.00001
|
|
NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr)
|
rs1555605562
|
0.00001
|
|
NM_058216.3(RAD51C):c.1077A>G (p.Thr359=)
|
rs763424319
|
0.00001
|
|
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)
|
rs587782449
|
0.00001
|
|
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)
|
rs577852020
|
0.00001
|
|
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)
|
rs373170458
|
0.00001
|
|
NM_058216.3(RAD51C):c.121G>A (p.Val41Met)
|
rs879254131
|
0.00001
|
|
NM_058216.3(RAD51C):c.128C>T (p.Pro43Leu)
|
rs766958594
|
0.00001
|
|
NM_058216.3(RAD51C):c.141C>T (p.Ser47=)
|
rs568912602
|
0.00001
|
|
NM_058216.3(RAD51C):c.145+11C>G
|
rs1263551026
|
0.00001
|
|
NM_058216.3(RAD51C):c.145+13G>A
|
rs1177750681
|
0.00001
|
|
NM_058216.3(RAD51C):c.145+5C>A
|
rs876660577
|
0.00001
|
|
NM_058216.3(RAD51C):c.145+5C>T
|
rs876660577
|
0.00001
|
|
NM_058216.3(RAD51C):c.146-7C>G
|
rs1428658524
|
0.00001
|
|
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)
|
rs730881927
|
0.00001
|
|
NM_058216.3(RAD51C):c.15G>T (p.Thr5=)
|
rs777585467
|
0.00001
|
|
NM_058216.3(RAD51C):c.161A>C (p.Lys54Thr)
|
rs587782296
|
0.00001
|
|
NM_058216.3(RAD51C):c.164C>T (p.Ala55Val)
|
rs730881928
|
0.00001
|
|
NM_058216.3(RAD51C):c.185A>G (p.Gln62Arg)
|
rs1308150896
|
0.00001
|
|
NM_058216.3(RAD51C):c.194G>C (p.Arg65Thr)
|
rs2047943468
|
0.00001
|
|
NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser)
|
rs759759863
|
0.00001
|
|
NM_058216.3(RAD51C):c.1A>G (p.Met1Val)
|
rs921435798
|
0.00001
|
|
NM_058216.3(RAD51C):c.20G>A (p.Arg7His)
|
rs892567748
|
0.00001
|
|
NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu)
|
rs775224480
|
0.00001
|
|
NM_058216.3(RAD51C):c.21C>G (p.Arg7=)
|
rs1443654986
|
0.00001
|
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
|
NM_058216.3(RAD51C):c.240G>A (p.Glu80=)
|
rs779053608
|
0.00001
|
|
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)
|
rs786202890
|
0.00001
|
|
NM_058216.3(RAD51C):c.253T>C (p.Cys85Arg)
|
rs1060502595
|
0.00001
|
|
NM_058216.3(RAD51C):c.276G>A (p.Glu92=)
|
rs1217274682
|
0.00001
|
|
NM_058216.3(RAD51C):c.28A>T (p.Met10Leu)
|
rs1452865935
|
0.00001
|
|
NM_058216.3(RAD51C):c.29T>G (p.Met10Arg)
|
rs730881936
|
0.00001
|
|
NM_058216.3(RAD51C):c.307T>A (p.Phe103Ile)
|
rs1114167446
|
0.00001
|
|
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)
|
rs786203690
|
0.00001
|
|
NM_058216.3(RAD51C):c.35G>A (p.Arg12Gln)
|
rs764394130
|
0.00001
|
|
NM_058216.3(RAD51C):c.35G>C (p.Arg12Pro)
|
rs764394130
|
0.00001
|
|
NM_058216.3(RAD51C):c.361A>G (p.Thr121Ala)
|
rs969395239
|
0.00001
|
|
NM_058216.3(RAD51C):c.363A>G (p.Thr121=)
|
rs876659626
|
0.00001
|
|
NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser)
|
rs1273995533
|
0.00001
|
|
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr)
|
rs587782222
|
0.00001
|
|
NM_058216.3(RAD51C):c.385G>A (p.Val129Ile)
|
rs1555593879
|
0.00001
|
|
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile)
|
rs769053886
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+16C>G
|
rs376465837
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
|
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)
|
rs587780254
|
0.00001
|
|
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)
|
rs587780836
|
0.00001
|
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
|
NM_058216.3(RAD51C):c.418G>C (p.Val140Leu)
|
rs730881938
|
0.00001
|
|
NM_058216.3(RAD51C):c.434C>T (p.Pro145Leu)
|
rs1291341143
|
0.00001
|
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
|
NM_058216.3(RAD51C):c.460G>A (p.Glu154Lys)
|
rs1194019460
|
0.00001
|
|
NM_058216.3(RAD51C):c.46A>G (p.Ser16Gly)
|
rs762060755
|
0.00001
|
|
NM_058216.3(RAD51C):c.487A>G (p.Ser163Gly)
|
rs776904180
|
0.00001
|
|
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala)
|
rs765300465
|
0.00001
|
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
|
NM_058216.3(RAD51C):c.536A>G (p.His179Arg)
|
rs1064794989
|
0.00001
|
|
NM_058216.3(RAD51C):c.537C>T (p.His179=)
|
rs372385738
|
0.00001
|
|
NM_058216.3(RAD51C):c.53C>T (p.Pro18Leu)
|
rs754498936
|
0.00001
|
|
NM_058216.3(RAD51C):c.547A>G (p.Ile183Val)
|
rs753475114
|
0.00001
|
|
NM_058216.3(RAD51C):c.548T>C (p.Ile183Thr)
|
rs756727559
|
0.00001
|
|
NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr)
|
rs1060502604
|
0.00001
|
|
NM_058216.3(RAD51C):c.556A>C (p.Lys186Gln)
|
rs1363104728
|
0.00001
|
|
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)
|
rs587781680
|
0.00001
|
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
|
NM_058216.3(RAD51C):c.572-11T>G
|
rs746890699
|
0.00001
|
|
NM_058216.3(RAD51C):c.572-15G>A
|
rs757896995
|
0.00001
|
|
NM_058216.3(RAD51C):c.572-20A>C
|
rs933464572
|
0.00001
|
|
NM_058216.3(RAD51C):c.572-2A>G
|
rs145310733
|
0.00001
|
|
NM_058216.3(RAD51C):c.578G>A (p.Arg193Gln)
|
rs587782332
|
0.00001
|
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
0.00001
|
|
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp)
|
rs538884532
|
0.00001
|
|
NM_058216.3(RAD51C):c.620A>G (p.His207Arg)
|
rs587781921
|
0.00001
|
|
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)
|
rs786201848
|
0.00001
|
|
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val)
|
rs771078849
|
0.00001
|
|
NM_058216.3(RAD51C):c.62C>T (p.Pro21Leu)
|
rs587782511
|
0.00001
|
|
NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys)
|
rs137947462
|
0.00001
|
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
|
NM_058216.3(RAD51C):c.644A>G (p.Asp215Gly)
|
rs1483938000
|
0.00001
|
|
NM_058216.3(RAD51C):c.651A>G (p.Thr217=)
|
rs757915374
|
0.00001
|
|
NM_058216.3(RAD51C):c.653A>G (p.Glu218Gly)
|
rs1321358603
|
0.00001
|
|
NM_058216.3(RAD51C):c.654G>A (p.Glu218=)
|
rs1388636466
|
0.00001
|
|
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)
|
rs201529791
|
0.00001
|
|
NM_058216.3(RAD51C):c.66G>A (p.Ala22=)
|
rs876660695
|
0.00001
|
|
NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu)
|
rs1374461662
|
0.00001
|
|
NM_058216.3(RAD51C):c.687C>G (p.Phe229Leu)
|
rs780177888
|
0.00001
|
|
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)
|
rs1060502588
|
0.00001
|
|
NM_058216.3(RAD51C):c.6C>T (p.Arg2=)
|
rs1334508786
|
0.00001
|
|
NM_058216.3(RAD51C):c.706-17A>G
|
rs772028189
|
0.00001
|
|
NM_058216.3(RAD51C):c.706-6A>G
|
rs776931174
|
0.00001
|
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
|
NM_058216.3(RAD51C):c.714A>G (p.Leu238=)
|
rs1251441432
|
0.00001
|
|
NM_058216.3(RAD51C):c.722T>C (p.Val241Ala)
|
rs1555599127
|
0.00001
|
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00001
|
|
NM_058216.3(RAD51C):c.73G>A (p.Val25Met)
|
rs757116652
|
0.00001
|
|
NM_058216.3(RAD51C):c.740C>T (p.Pro247Leu)
|
rs2048495457
|
0.00001
|
|
NM_058216.3(RAD51C):c.748C>T (p.His250Tyr)
|
rs531540031
|
0.00001
|
|
NM_058216.3(RAD51C):c.758A>G (p.Asp253Gly)
|
rs1060502592
|
0.00001
|
|
NM_058216.3(RAD51C):c.75G>A (p.Val25=)
|
rs779332818
|
0.00001
|
|
NM_058216.3(RAD51C):c.76A>G (p.Lys26Glu)
|
rs1233718307
|
0.00001
|
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
|
NM_058216.3(RAD51C):c.78G>A (p.Lys26=)
|
rs864622460
|
0.00001
|
|
NM_058216.3(RAD51C):c.79C>T (p.Leu27=)
|
rs786201775
|
0.00001
|
|
NM_058216.3(RAD51C):c.837+10A>C
|
rs1438994462
|
0.00001
|
|
NM_058216.3(RAD51C):c.837+16T>G
|
rs776692560
|
0.00001
|
|
NM_058216.3(RAD51C):c.838-15A>G
|
rs150042209
|
0.00001
|
|
NM_058216.3(RAD51C):c.838-16C>T
|
rs374620446
|
0.00001
|
|
NM_058216.3(RAD51C):c.840A>G (p.Val280=)
|
rs756503509
|
0.00001
|
|
NM_058216.3(RAD51C):c.869T>C (p.Ile290Thr)
|
rs749645694
|
0.00001
|
|
NM_058216.3(RAD51C):c.892G>C (p.Val298Leu)
|
rs1555602145
|
0.00001
|
|
NM_058216.3(RAD51C):c.899C>T (p.Ala300Val)
|
rs1444333199
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+16G>C
|
rs929872458
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+8A>G
|
rs2048894791
|
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.905-5C>T
|
rs371968149
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-7C>T
|
rs757624360
|
0.00001
|
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
|
NM_058216.3(RAD51C):c.92G>A (p.Gly31Glu)
|
rs587781441
|
0.00001
|
|
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)
|
rs730881932
|
0.00001
|
|
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)
|
rs779834376
|
0.00001
|
|
NM_058216.3(RAD51C):c.952G>T (p.Asp318Tyr)
|
rs876659875
|
0.00001
|
|
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)
|
rs587781287
|
0.00001
|
|
NM_058216.3(RAD51C):c.965+4A>G
|
rs1555603065
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-12T>C
|
rs1057522948
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-1G>C
|
rs876658272
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-8T>G
|
rs1181139153
|
0.00001
|
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
|
NM_058216.3(RAD51C):c.982A>G (p.Lys328Glu)
|
rs1555605064
|
0.00001
|
|
NM_058216.3(RAD51C):c.9G>C (p.Gly3=)
|
rs751117852
|
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_000001.10:g.(?_93306098)_(93307422_?)dup
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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.(?_3391395)_(3624240_?)dup
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NC_000002.11:g.(?_3391395)_(3691708_?)dup
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NC_000002.11:g.(?_3622941)_(3628472_?)dup
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NC_000002.11:g.(?_58386900)_(58390229_?)dup
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NC_000002.11:g.(?_58386900)_(58393029_?)dup
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NC_000002.11:g.(?_58386900)_(58459267_?)del
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NC_000002.11:g.(?_58386900)_(58468448_?)dup
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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)_(58165884_?)del
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NC_000002.12:g.(?_58159755)_(58241323_?)del
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NC_000002.12:g.(?_58159755)_(58241323_?)dup
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NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
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NC_000002.12:g.58232113del
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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.(?_10084233)_(10085286_?)del
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NC_000003.11:g.(?_10084233)_(10085558_?)dup
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NC_000003.11:g.(?_10091048)_(10140634_?)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.(?_10127486)_(10140634_?)dup
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NC_000003.11:g.(?_10127486)_(10140644_?)dup
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NC_000003.11:g.(?_10130113)_(10133956_?)del
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NC_000003.11:g.(?_10132039)_(10132856_?)del
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NC_000003.11:g.(?_10138000)_(10140634_?)del
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NC_000003.11:g.(?_197680864)_(197682644_?)del
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NC_000003.12:g.(?_10028648)_(10043874_?)del
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NC_000003.12:g.(?_10028648)_(10043874_?)dup
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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.(?_10090282)_(10098950_?)dup
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NC_000003.12:g.(?_197950958)_(197955783_?)del
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NC_000003.12:g.(?_197950958)_(197955783_?)dup
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NC_000003.12:g.(?_197950962)_(197955779_?)del
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NC_000003.12:g.(?_197950968)_(197955773_?)dup
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NC_000006.11:g.(?_34385283)_(34392998_?)dup
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NC_000006.11:g.(?_35420323)_(35424150_?)dup
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NC_000006.11:g.(?_35420323)_(35434122_?)dup
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NC_000006.11:g.(?_35423579)_(35424285_?)del
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NC_000006.11:g.(?_35423579)_35424285del
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NC_000006.11:g.(?_35428309)_(35434122_?)dup
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NC_000006.11:g.(?_35430556)_(35434122_?)del
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NC_000006.12:g.(?_34417506)_(34421817_?)del
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NC_000009.11:g.(?_35072710)_(35079521_?)dup
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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.(?_97863983)_(98270649_?)dup
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NC_000009.11:g.(?_97863989)_(98079991_?)dup
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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.(?_97876901)_(97934439_?)dup
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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.(?_98002921)_(98079991_?)dup
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NC_000009.11:g.(?_98009704)_(98009808_?)del
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NC_000009.11:g.(?_98079798)_(98279100_?)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.(?_95107056)_(95107279_?)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.(?_95171069)_(95172157_?)dup
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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_000010.10:g.(?_79795104)_(79799970_?)dup
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NC_000010.10:g.(?_79799952)_(79799964_?)dup
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NC_000010.11:g.(?_78033902)_(78033914_?)del
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NC_000011.9:g.(?_22644079)_(22647387_?)dup
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NC_000011.9:g.(?_22646226)_(22647362_?)dup
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NC_000011.9:g.(?_22646232)_(22647356_?)dup
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NC_000012.11:g.(?_56396006)_(56437938_?)del
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NC_000012.11:g.(?_56435951)_(56437938_?)dup
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NC_000014.8:g.(?_44820816)_(45645917_?)del
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NC_000014.8:g.(?_45605225)_(45609922_?)dup
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NC_000014.8:g.(?_45605235)_(45609922_?)del
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NC_000014.8:g.(?_45605235)_(45669211_?)dup
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NC_000014.8:g.(?_45618020)_(45669211_?)del
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NC_000014.8:g.(?_45618030)_(45618208_?)del
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NC_000014.8:g.(?_45618030)_(45633778_?)del
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NC_000014.8:g.(?_45618030)_(45646189_?)del
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NC_000014.8:g.(?_45623113)_(45669211_?)del
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NC_000014.8:g.(?_45628293)_(45628489_?)dup
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NC_000014.8:g.(?_45630372)_(45633544_?)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_000014.8:g.(?_45654410)_(45657100_?)del
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NC_000014.9:g.(?_45136032)_(45200008_?)del
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NC_000014.9:g.(?_45153910)_(45200018_?)del
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NC_000014.9:g.(?_45164349)_(45164575_?)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_000015.10:g.(?_89290203)_(89291724_?)del
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NC_000015.9:g.(?_89790873)_(89876991_?)del
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NC_000015.9:g.(?_89790879)_(89825086_?)dup
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NC_000015.9:g.(?_89790879)_(89859690_?)dup
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NC_000015.9:g.(?_89801915)_(89802027_?)del
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NC_000015.9:g.(?_89801915)_(89828469_?)del
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NC_000015.9:g.(?_89811610)_(89817555_?)del
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NC_000015.9:g.(?_89828307)_(89828469_?)del
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NC_000015.9:g.(?_89843021)_(89860052_?)del
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NC_000015.9:g.(?_89858493)_(89860078_?)del
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NC_000016.10:g.(?_13821951)_(13937868_?)dup
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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.(?_89738601)_(89816616_?)dup
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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)_(89762032_?)dup
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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)_(89779967_?)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.(?_89764884)_(89779963_?)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)_(89799648_?)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.(?_89795896)_(89805402_?)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)_(89816616_?)dup
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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.13919809A>C
|
rs6498486
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NC_000016.10:g.89746689dup
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NC_000016.9:g.(?_13915808)_(14724045_?)dup
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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.(?_3632337)_(3658971_?)dup
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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.(?_3634750)_(3634892_?)dup
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NC_000016.9:g.(?_3634760)_(3634882_?)del
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NC_000016.9:g.(?_3634764)_(3634878_?)dup
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NC_000016.9:g.(?_3638993)_(3658965_?)dup
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NC_000016.9:g.(?_3658425)_(3658971_?)del
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NC_000016.9:g.(?_89556653)_(89851392_?)dup
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NC_000016.9:g.(?_89611036)_(90106937_?)dup
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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.(?_89805009)_(89806517_?)del
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NC_000016.9:g.(?_89805009)_(89809366_?)dup
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NC_000016.9:g.(?_89805009)_(89813308_?)dup
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NC_000016.9:g.(?_89805009)_(89825123_?)del
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NC_000016.9:g.(?_89805009)_(89831484_?)dup
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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)_(89858965_?)dup
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NC_000016.9:g.(?_89805009)_(89866066_?)dup
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NC_000016.9:g.(?_89805009)_(89883024_?)del
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NC_000016.9:g.(?_89805270)_(89806527_?)dup
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NC_000016.9:g.(?_89805270)_(89807294_?)dup
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NC_000016.9:g.(?_89807202)_(89883024_?)del
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NC_000016.9:g.(?_89811357)_(89851382_?)dup
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NC_000016.9:g.(?_89811367)_(89851372_?)dup
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NC_000016.9:g.(?_89815047)_(89816330_?)del
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NC_000016.9:g.(?_89816056)_(89816320_?)dup
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NC_000016.9:g.(?_89816056)_(89849520_?)del
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NC_000016.9:g.(?_89818526)_(89833665_?)dup
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NC_000016.9:g.(?_89818536)_(89818822_?)dup
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NC_000016.9:g.(?_89824965)_(89883023_?)dup
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NC_000016.9:g.(?_89824975)_(89828440_?)del
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NC_000016.9:g.(?_89828347)_(89846375_?)dup
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NC_000016.9:g.(?_89828347)_(89862436_?)del
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NC_000016.9:g.(?_89839669)_(89866056_?)del
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NC_000016.9:g.(?_89842130)_(89883023_?)dup
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NC_000016.9:g.(?_89842140)_(89842233_?)del
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NC_000016.9:g.(?_89842140)_(89851382_?)dup
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NC_000016.9:g.(?_89842140)_(89866056_?)del
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NC_000016.9:g.(?_89864654)_(89866056_?)dup
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NC_000016.9:g.(?_89869657)_(89877489_?)dup
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NC_000016.9:g.(?_89871678)_(89877489_?)del
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NC_000016.9:g.(?_89880928)_(89883065_?)dup
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NC_000016.9:g.(?_89882935)_(89883024_?)dup
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NC_000017.10:g.(?_56432304)_(56811583_?)dup
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NC_000017.10:g.(?_56769920)_(56811662_?)del
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NC_000017.10:g.(?_56769999)_(56787357_?)del
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NC_000017.10:g.(?_56769999)_(56801467_?)dup
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NC_000017.10:g.(?_56772282)_(56772560_?)del
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NC_000017.10:g.(?_56780551)_(56787357_?)del
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NC_000017.11:g.(?_61847091)_(61861549_?)dup
|
|
|
|
NC_000017.11:g.(?_61847101)_(61849256_?)del
|
|
|
|
NC_000017.11:g.(?_61857048)_(61857241_?)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.(?_61861437)_(61861549_?)dup
|
|
|
|
NC_000017.11:g.(?_61861441)_(61861545_?)del
|
|
|
|
NC_000017.11:g.(?_7669603)_(8382316_?)del
|
|
|
|
NC_000017.11:g.(?_8228170)_(8382320_?)dup
|
|
|
|
NC_000019.9:g.(?_39904727)_(42931301_?)dup
|
|
|
|
NC_000019.9:g.(?_42363988)_(42364359_?)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)_(14877476_?)dup
|
|
|
|
NC_000023.10:g.(?_14861689)_(14891184_?)del
|
|
|
|
NC_000023.10:g.(?_14861689)_(15870650_?)dup
|
|
|
|
NC_000023.10:g.(?_14875974)_(14891184_?)del
|
|
|
|
NC_000023.10:g.(?_48542243)_(48652571_?)del
|
|
|
|
NC_000023.10:g.(?_48543926)_(48652581_?)dup
|
|
|
|
NC_000023.10:g.(?_48649517)_(48652571_?)dup
|
|
|
|
NC_000023.11:g.(?_14843557)_(14873062_?)dup
|
|
|
|
NC_000023.11:g.(?_14857852)_(14859344_?)del
|
|
|
|
NM_000135.2(FANCA):c.(?_-1)_522+?del
|
|
|
|
NM_000135.4(FANCA):c.-1_2del (p.Met1del)
|
rs2143732272
|
|
|
NM_000135.4(FANCA):c.1000C>G (p.Leu334Val)
|
|
|
|
NM_000135.4(FANCA):c.1000C>T (p.Leu334=)
|
rs1405549284
|
|
|
NM_000135.4(FANCA):c.1006+10G>C
|
|
|
|
NM_000135.4(FANCA):c.1006+10G>T
|
rs762536802
|
|
|
NM_000135.4(FANCA):c.1006+11TG[3]
|
|
|
|
NM_000135.4(FANCA):c.1006+14G>C
|
|
|
|
NM_000135.4(FANCA):c.1006+19C>G
|
|
|
|
NM_000135.4(FANCA):c.1006+1G>T
|
rs1555564436
|
|
|
NM_000135.4(FANCA):c.1006+6C>A
|
|
|
|
NM_000135.4(FANCA):c.1006+6C>T
|
|
|
|
NM_000135.4(FANCA):c.1007-10C>A
|
rs2040111171
|
|
|
NM_000135.4(FANCA):c.1007-10C>T
|
rs2040111171
|
|
|
NM_000135.4(FANCA):c.1007-13T>G
|
|
|
|
NM_000135.4(FANCA):c.1007-16G>C
|
|
|
|
NM_000135.4(FANCA):c.1007-16_1007-15del
|
|
|
|
NM_000135.4(FANCA):c.1007-18_1007-15del
|
|
|
|
NM_000135.4(FANCA):c.1007-1G>A
|
|
|
|
NM_000135.4(FANCA):c.1007-20G>A
|
|
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
|
NM_000135.4(FANCA):c.1007-2dup
|
rs2143534850
|
|
|
NM_000135.4(FANCA):c.1007-3C>A
|
|
|
|
NM_000135.4(FANCA):c.1007-5T>C
|
|
|
|
NM_000135.4(FANCA):c.1007-6C>G
|
rs770125368
|
|
|
NM_000135.4(FANCA):c.1007-7C>T
|
|
|
|
NM_000135.4(FANCA):c.1007-9C>T
|
|
|
|
NM_000135.4(FANCA):c.1012G>C (p.Asp338His)
|
|
|
|
NM_000135.4(FANCA):c.1014T>C (p.Asp338=)
|
|
|
|
NM_000135.4(FANCA):c.1017T>C (p.Ala339=)
|
|
|
|
NM_000135.4(FANCA):c.1023G>A (p.Gln341=)
|
rs2143534746
|
|
|
NM_000135.4(FANCA):c.1029G>A (p.Gln343=)
|
rs779989777
|
|
|
NM_000135.4(FANCA):c.1029G>C (p.Gln343His)
|
|
|
|
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
|
|
|
|
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys)
|
rs758168558
|
|
|
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.1035G>A (p.Glu345=)
|
rs1044759612
|
|
|
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
|
|
|
|
NM_000135.4(FANCA):c.1041C>T (p.Ser347=)
|
|
|
|
NM_000135.4(FANCA):c.1046C>A (p.Ala349Glu)
|
rs142620413
|
|
|
NM_000135.4(FANCA):c.1047G>T (p.Ala349=)
|
|
|
|
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)
|
rs199967286
|
|
|
NM_000135.4(FANCA):c.1050G>A (p.Arg350=)
|
|
|
|
NM_000135.4(FANCA):c.1057C>G (p.Pro353Ala)
|
rs1449343629
|
|
|
NM_000135.4(FANCA):c.1059T>A (p.Pro353=)
|
rs563820871
|
|
|
NM_000135.4(FANCA):c.1062G>C (p.Leu354=)
|
|
|
|
NM_000135.4(FANCA):c.1063C>A (p.Leu355Ile)
|
|
|
|
NM_000135.4(FANCA):c.1065C>A (p.Leu355=)
|
|
|
|
NM_000135.4(FANCA):c.1065C>G (p.Leu355=)
|
|
|
|
NM_000135.4(FANCA):c.1065C>T (p.Leu355=)
|
rs373366147
|
|
|
NM_000135.4(FANCA):c.1066A>T (p.Thr356Ser)
|
|
|
|
NM_000135.4(FANCA):c.1068C>A (p.Thr356=)
|
rs1161525939
|
|
|
NM_000135.4(FANCA):c.1068C>T (p.Thr356=)
|
rs1161525939
|
|
|
NM_000135.4(FANCA):c.106_108del (p.Asn36del)
|
rs1598202748
|
|
|
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter)
|
rs773687142
|
|
|
NM_000135.4(FANCA):c.1071A>G (p.Ser357=)
|
rs1249860808
|
|
|
NM_000135.4(FANCA):c.1072C>T (p.Leu358=)
|
rs748337423
|
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
|
NM_000135.4(FANCA):c.1076A>G (p.Tyr359Cys)
|
|
|
|
NM_000135.4(FANCA):c.1079G>A (p.Arg360His)
|
|
|
|
NM_000135.4(FANCA):c.1080C>A (p.Arg360=)
|
|
|
|
NM_000135.4(FANCA):c.1080C>T (p.Arg360=)
|
|
|
|
NM_000135.4(FANCA):c.1082G>C (p.Arg361Thr)
|
|
|
|
NM_000135.4(FANCA):c.1083+14G>C
|
rs2143534130
|
|
|
NM_000135.4(FANCA):c.1083+17T>C
|
|
|
|
NM_000135.4(FANCA):c.1083+18T>C
|
|
|
|
NM_000135.4(FANCA):c.1083+1G>A
|
|
|
|
NM_000135.4(FANCA):c.1083+20T>C
|
|
|
|
NM_000135.4(FANCA):c.1083+5G>A
|
rs1412210234
|
|
|
NM_000135.4(FANCA):c.1083+8G>C
|
|
|
|
NM_000135.4(FANCA):c.1083+8del
|
|
|
|
NM_000135.4(FANCA):c.1083+9A>T
|
rs1312747816
|
|
|
NM_000135.4(FANCA):c.1083G>A (p.Arg361=)
|
rs2143534230
|
|
|
NM_000135.4(FANCA):c.1084-10T>C
|
rs369884743
|
|
|
NM_000135.4(FANCA):c.1084-11T>G
|
|
|
|
NM_000135.4(FANCA):c.1084-13G>A
|
rs2143531033
|
|
|
NM_000135.4(FANCA):c.1084-14T>C
|
rs1267858023
|
|
|
NM_000135.4(FANCA):c.1084-16G>T
|
|
|
|
NM_000135.4(FANCA):c.1084-17G>A
|
|
|
|
NM_000135.4(FANCA):c.1084-19G>C
|
|
|
|
NM_000135.4(FANCA):c.1084-1G>A
|
rs2040094761
|
|
|
NM_000135.4(FANCA):c.1084-5T>G
|
|
|
|
NM_000135.4(FANCA):c.1084-7del
|
rs780878272
|
|
|
NM_000135.4(FANCA):c.1084-8T>G
|
|
|
|
NM_000135.4(FANCA):c.1084-9T>C
|
|
|
|
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val)
|
rs2040094709
|
|
|
NM_000135.4(FANCA):c.1086C>T (p.Leu362=)
|
rs2143530829
|
|
|
NM_000135.4(FANCA):c.1089T>C (p.Phe363=)
|
rs2143530797
|
|
|
NM_000135.4(FANCA):c.1093A>G (p.Met365Val)
|
rs2143530760
|
|
|
NM_000135.4(FANCA):c.1094T>G (p.Met365Arg)
|
rs2040094424
|
|
|
NM_000135.4(FANCA):c.1096C>G (p.Leu366Val)
|
|
|
|
NM_000135.4(FANCA):c.1096C>T (p.Leu366=)
|
|
|
|
NM_000135.4(FANCA):c.1097T>C (p.Leu366Pro)
|
rs2143530711
|
|
|
NM_000135.4(FANCA):c.1098G>A (p.Leu366=)
|
|
|
|
NM_000135.4(FANCA):c.1098G>C (p.Leu366=)
|
|
|
|
NM_000135.4(FANCA):c.1098G>T (p.Leu366=)
|
rs1598152908
|
|
|
NM_000135.4(FANCA):c.1101T>C (p.Ser367=)
|
|
|
|
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr)
|
rs1598152904
|
|
|
NM_000135.4(FANCA):c.1112T>C (p.Leu371Ser)
|
|
|
|
NM_000135.4(FANCA):c.1115T>C (p.Val372Ala)
|
rs2040093870
|
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
|
NM_000135.4(FANCA):c.1119C>G (p.Gly373=)
|
|
|
|
NM_000135.4(FANCA):c.1122T>C (p.His374=)
|
rs2143530454
|
|
|
NM_000135.4(FANCA):c.1123T>A (p.Leu375Met)
|
rs2040093515
|
|
|
NM_000135.4(FANCA):c.1123T>C (p.Leu375=)
|
rs2040093515
|
|
|
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu)
|
rs2040093330
|
|
|
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
|
|
|
|
NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg)
|
rs2143530391
|
|
|
NM_000135.4(FANCA):c.1135C>T (p.Leu379=)
|
rs969577700
|
|
|
NM_000135.4(FANCA):c.113A>C (p.Glu38Ala)
|
|
|
|
NM_000135.4(FANCA):c.1140A>G (p.Glu380=)
|
rs2143530276
|
|
|
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
|
rs2040092520
|
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
|
NM_000135.4(FANCA):c.1144C>G (p.Gln382Glu)
|
rs769718381
|
|
|
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg)
|
rs747766198
|
|
|
NM_000135.4(FANCA):c.1146G>A (p.Gln382=)
|
rs781015145
|
|
|
NM_000135.4(FANCA):c.1147del (p.Glu383fs)
|
rs2040092247
|
|
|
NM_000135.4(FANCA):c.1149G>A (p.Glu383=)
|
|
|
|
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile)
|
rs751071791
|
|
|
NM_000135.4(FANCA):c.1152T>G (p.Val384=)
|
|
|
|
NM_000135.4(FANCA):c.1153C>G (p.His385Asp)
|
|
|
|
NM_000135.4(FANCA):c.1154A>G (p.His385Arg)
|
|
|
|
NM_000135.4(FANCA):c.1155C>T (p.His385=)
|
|
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
|
NM_000135.4(FANCA):c.1161G>C (p.Gln387His)
|
|
|
|
NM_000135.4(FANCA):c.1167G>A (p.Val389=)
|
|
|
|
NM_000135.4(FANCA):c.1168C>A (p.Leu390Ile)
|
|
|
|
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr)
|
rs151089298
|
|
|
NM_000135.4(FANCA):c.1170C>G (p.Leu390=)
|
rs2143529917
|
|
|
NM_000135.4(FANCA):c.1170C>T (p.Leu390=)
|
|
|
|
NM_000135.4(FANCA):c.1173C>G (p.Ser391=)
|
rs2040091412
|
|
|
NM_000135.4(FANCA):c.1173C>T (p.Ser391=)
|
rs2040091412
|
|
|
NM_000135.4(FANCA):c.1179G>C (p.Val393=)
|
|
|
|
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr)
|
rs202062504
|
|
|
NM_000135.4(FANCA):c.1185C>G (p.Ala395=)
|
rs2143529838
|
|
|
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs)
|
rs2143529729
|
|
|
NM_000135.4(FANCA):c.1186C>G (p.Leu396Val)
|
|
|
|
NM_000135.4(FANCA):c.1186C>T (p.Leu396=)
|
|
|
|
NM_000135.4(FANCA):c.1188G>A (p.Leu396=)
|
|
|
|
NM_000135.4(FANCA):c.118dup (p.Ala40fs)
|
rs2143724113
|
|
|
NM_000135.4(FANCA):c.1194C>G (p.Val398=)
|
rs1158857420
|
|
|
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
|
rs2040090995
|
|
|
NM_000135.4(FANCA):c.1195T>C (p.Cys399Arg)
|
rs2040090935
|
|
|
NM_000135.4(FANCA):c.1198T>C (p.Phe400Leu)
|
rs1360355945
|
|
|
NM_000135.4(FANCA):c.119C>T (p.Ala40Val)
|
rs563060518
|
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
|
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)
|
|
|
|
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
|
rs2040090741
|
|
|
NM_000135.4(FANCA):c.1208C>T (p.Ala403Val)
|
|
|
|
NM_000135.4(FANCA):c.1209G>T (p.Ala403=)
|
|
|
|
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
|
|
|
|
NM_000135.4(FANCA):c.1216C>A (p.Leu406Met)
|
|
|
|
NM_000135.4(FANCA):c.1216C>T (p.Leu406=)
|
|
|
|
NM_000135.4(FANCA):c.1218G>A (p.Leu406=)
|
rs2040090132
|
|
|
NM_000135.4(FANCA):c.121C>G (p.Gln41Glu)
|
rs764533094
|
|
|
NM_000135.4(FANCA):c.1221T>C (p.Leu407=)
|
rs780963734
|
|
|
NM_000135.4(FANCA):c.1225+10del
|
rs2143529499
|
|
|
NM_000135.4(FANCA):c.1225+13G>A
|
rs201201281
|
|
|
NM_000135.4(FANCA):c.1225+13G>C
|
rs201201281
|
|
|
NM_000135.4(FANCA):c.1225+15G>A
|
|
|
|
NM_000135.4(FANCA):c.1225+17G>A
|
|
|
|
NM_000135.4(FANCA):c.1225+17G>C
|
|
|
|
NM_000135.4(FANCA):c.1225+20C>A
|
rs199534742
|
|
|
NM_000135.4(FANCA):c.1225+20C>G
|
|
|
|
NM_000135.4(FANCA):c.1225+20C>T
|
rs199534742
|
|
|
NM_000135.4(FANCA):c.1225+20del
|
rs2143529337
|
|
|
NM_000135.4(FANCA):c.1225+2T>A
|
|
|
|
NM_000135.4(FANCA):c.1225+2T>G
|
|
|
|
NM_000135.4(FANCA):c.1225+7_1225+15del
|
rs2143529419
|
|
|
NM_000135.4(FANCA):c.1226-13G>A
|
rs377159744
|
|
|
NM_000135.4(FANCA):c.1226-18G>C
|
|
|
|
NM_000135.4(FANCA):c.1226-1G>C
|
rs1417768931
|
|
|
NM_000135.4(FANCA):c.1226-6A>C
|
rs200953509
|
|
|
NM_000135.4(FANCA):c.1226-6A>G
|
|
|
|
NM_000135.4(FANCA):c.1227C>T (p.Asp409=)
|
rs139944072
|
|
|
NM_000135.4(FANCA):c.123G>A (p.Gln41=)
|
|
|
|
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile)
|
rs1555561439
|
|
|
NM_000135.4(FANCA):c.1255T>G (p.Phe419Val)
|
rs2143526434
|
|
|
NM_000135.4(FANCA):c.1256T>C (p.Phe419Ser)
|
|
|
|
NM_000135.4(FANCA):c.1257C>G (p.Phe419Leu)
|
rs764140346
|
|
|
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
|
|
|
|
NM_000135.4(FANCA):c.1266C>T (p.Cys422=)
|
|
|
|
NM_000135.4(FANCA):c.1268A>G (p.Gln423Arg)
|
|
|
|
NM_000135.4(FANCA):c.1269G>A (p.Gln423=)
|
|
|
|
NM_000135.4(FANCA):c.126A>G (p.Lys42=)
|
|
|
|
NM_000135.4(FANCA):c.1275C>T (p.Asp425=)
|
|
|
|
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly)
|
rs985078327
|
|
|
NM_000135.4(FANCA):c.1277G>T (p.Ser426Ile)
|
|
|
|
NM_000135.4(FANCA):c.1278C>T (p.Ser426=)
|
|
|
|
NM_000135.4(FANCA):c.1281G>A (p.Met427Ile)
|
rs747322973
|
|
|
NM_000135.4(FANCA):c.1282G>A (p.Val428Ile)
|
rs1026686587
|
|
|
NM_000135.4(FANCA):c.1283T>C (p.Val428Ala)
|
|
|
|
NM_000135.4(FANCA):c.1285A>C (p.Thr429Pro)
|
|
|
|
NM_000135.4(FANCA):c.1286C>G (p.Thr429Ser)
|
|
|
|
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile)
|
rs1598151907
|
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
|
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly)
|
rs772567344
|
|
|
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.1290G>A (p.Ala430=)
|
rs1800332
|
|
|
NM_000135.4(FANCA):c.1290G>T (p.Ala430=)
|
rs1800332
|
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
|
NM_000135.4(FANCA):c.1294C>T (p.Leu432=)
|
rs1232228823
|
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
|
NM_000135.4(FANCA):c.1296G>A (p.Leu432=)
|
|
|
|
NM_000135.4(FANCA):c.1296G>C (p.Leu432=)
|
|
|
|
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala)
|
rs1015816469
|
|
|
NM_000135.4(FANCA):c.129A>G (p.Leu43=)
|
rs902594434
|
|
|
NM_000135.4(FANCA):c.12G>A (p.Ser4=)
|
rs1009539881
|
|
|
NM_000135.4(FANCA):c.12G>T (p.Ser4=)
|
rs1009539881
|
|
|
NM_000135.4(FANCA):c.1300G>A (p.Val434Met)
|
|
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
|
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro)
|
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.1308G>C (p.Gln436His)
|
rs1316078638
|
|
|
NM_000135.4(FANCA):c.1311A>G (p.Ala437=)
|
rs2143525993
|
|
|
NM_000135.4(FANCA):c.1314A>C (p.Ala438=)
|
|
|
|
NM_000135.4(FANCA):c.1314A>T (p.Ala438=)
|
rs2143525963
|
|
|
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met)
|
rs1307948857
|
|
|
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
|
rs2040073991
|
|
|
NM_000135.4(FANCA):c.1323C>A (p.Gly441=)
|
|
|
|
NM_000135.4(FANCA):c.1323C>T (p.Gly441=)
|
rs1377621197
|
|
|
NM_000135.4(FANCA):c.1326C>G (p.Pro442=)
|
|
|
|
NM_000135.4(FANCA):c.1326C>T (p.Pro442=)
|
|
|
|
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)
|
rs367733447
|
|
|
NM_000135.4(FANCA):c.132G>A (p.Lys44=)
|
rs200428379
|
|
|
NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr)
|
rs771047848
|
|
|
NM_000135.4(FANCA):c.1332G>T (p.Ala444=)
|
rs377705748
|
|
|
NM_000135.4(FANCA):c.1335C>T (p.Phe445=)
|
|
|
|
NM_000135.4(FANCA):c.1336C>T (p.Leu446=)
|
|
|
|
NM_000135.4(FANCA):c.1338G>T (p.Leu446=)
|
|
|
|
NM_000135.4(FANCA):c.1339del (p.Ser447fs)
|
rs2143525756
|
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
|
NM_000135.4(FANCA):c.1341A>G (p.Ser447=)
|
rs895188167
|
|
|
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)
|
rs1567635573
|
|
|
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs)
|
rs2143525701
|
|
|
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr)
|
rs2040073158
|
|
|
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
|
|
|
|
NM_000135.4(FANCA):c.1348G>T (p.Asp450Tyr)
|
rs1262122499
|
|
|
NM_000135.4(FANCA):c.1349A>T (p.Asp450Val)
|
rs1213289620
|
|
|
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly)
|
rs2040072996
|
|
|
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter)
|
rs2143525603
|
|
|
NM_000135.4(FANCA):c.1356C>T (p.Phe452=)
|
|
|
|
NM_000135.4(FANCA):c.1358A>G (p.Lys453Arg)
|
rs139248966
|
|
|
NM_000135.4(FANCA):c.1359+10C>G
|
rs34159559
|
|
|
NM_000135.4(FANCA):c.1359+12G>A
|
|
|
|
NM_000135.4(FANCA):c.1359+14del
|
rs2143525386
|
|
|
NM_000135.4(FANCA):c.1359+16A>T
|
rs200016746
|
|
|
NM_000135.4(FANCA):c.1359+18C>T
|
|
|
|
NM_000135.4(FANCA):c.1359+19G>A
|
|
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
|
NM_000135.4(FANCA):c.1359+20G>T
|
|
|
|
NM_000135.4(FANCA):c.1359+3A>G
|
|
|
|
NM_000135.4(FANCA):c.1359+4A>T
|
rs35476732
|
|
|
NM_000135.4(FANCA):c.1359+7G>A
|
rs749311482
|
|
|
NM_000135.4(FANCA):c.1359+8A>G
|
|
|
|
NM_000135.4(FANCA):c.1359+9C>A
|
rs375487246
|
|
|
NM_000135.4(FANCA):c.1359+9C>T
|
rs375487246
|
|
|
NM_000135.4(FANCA):c.1360-10C>T
|
|
|
|
NM_000135.4(FANCA):c.1360-13T>A
|
|
|
|
NM_000135.4(FANCA):c.1360-13TC[2]
|
rs1598140813
|
|
|
NM_000135.4(FANCA):c.1360-17C>T
|
|
|
|
NM_000135.4(FANCA):c.1360-18G>C
|
|
|
|
NM_000135.4(FANCA):c.1360-2A>G
|
|
|
|
NM_000135.4(FANCA):c.1360-4A>G
|
rs746911316
|
|
|
NM_000135.4(FANCA):c.1360-5C>T
|
rs2143477318
|
|
|
NM_000135.4(FANCA):c.1360-64_1360del
|
rs2143477254
|
|
|
NM_000135.4(FANCA):c.1360-8C>T
|
rs1407800718
|
|
|
NM_000135.4(FANCA):c.1364C>A (p.Ser455Tyr)
|
|
|
|
NM_000135.4(FANCA):c.1371G>A (p.Gly457=)
|
rs369988875
|
|
|
NM_000135.4(FANCA):c.1374C>T (p.Ser458=)
|
|
|
|
NM_000135.4(FANCA):c.1378C>A (p.Arg460=)
|
rs1438828232
|
|
|
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.137C>T (p.Ser46Leu)
|
rs2041098068
|
|
|
NM_000135.4(FANCA):c.1380A>T (p.Arg460=)
|
|
|
|
NM_000135.4(FANCA):c.1383C>T (p.Gly461=)
|
|
|
|
NM_000135.4(FANCA):c.1386C>T (p.Tyr462=)
|
rs2143477066
|
|
|
NM_000135.4(FANCA):c.1388A>G (p.His463Arg)
|
rs2039847321
|
|
|
NM_000135.4(FANCA):c.1389T>C (p.His463=)
|
rs756913331
|
|
|
NM_000135.4(FANCA):c.1392C>A (p.Gly464=)
|
rs2143477008
|
|
|
NM_000135.4(FANCA):c.1392C>T (p.Gly464=)
|
rs2143477008
|
|
|
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser)
|
rs2039847109
|
|
|
NM_000135.4(FANCA):c.1399A>G (p.Lys467Glu)
|
|
|
|
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr)
|
rs1190475225
|
|
|
NM_000135.4(FANCA):c.139G>C (p.Ala47Pro)
|
|
|
|
NM_000135.4(FANCA):c.1400A>G (p.Lys467Arg)
|
rs2143476944
|
|
|
NM_000135.4(FANCA):c.1403A>C (p.Lys468Thr)
|
rs1598140745
|
|
|
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg)
|
rs1598140745
|
|
|
NM_000135.4(FANCA):c.1405G>T (p.Ala469Ser)
|
rs1236726652
|
|
|
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val)
|
rs2039846606
|
|
|
NM_000135.4(FANCA):c.1407C>T (p.Ala469=)
|
rs1325894062
|
|
|
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met)
|
rs752092543
|
|
|
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
|
rs752092543
|
|
|
NM_000135.4(FANCA):c.1410G>C (p.Leu470=)
|
rs2143476857
|
|
|
NM_000135.4(FANCA):c.1413C>A (p.Val471=)
|
|
|
|
NM_000135.4(FANCA):c.1413C>G (p.Val471=)
|
rs201561753
|
|
|
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
|
rs2039846326
|
|
|
NM_000135.4(FANCA):c.1418T>C (p.Leu473Pro)
|
|
|
|
NM_000135.4(FANCA):c.1425G>C (p.Thr475=)
|
|
|
|
NM_000135.4(FANCA):c.1428C>G (p.Phe476Leu)
|
|
|
|
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
|
rs1432415523
|
|
|
NM_000135.4(FANCA):c.1434A>C (p.Ser478=)
|
|
|
|
NM_000135.4(FANCA):c.1434A>G (p.Ser478=)
|
|
|
|
NM_000135.4(FANCA):c.1437A>G (p.Glu479=)
|
rs2143476678
|
|
|
NM_000135.4(FANCA):c.1438C>T (p.Leu480Phe)
|
rs1444498671
|
|
|
NM_000135.4(FANCA):c.1439T>G (p.Leu480Arg)
|
rs2143476647
|
|
|
NM_000135.4(FANCA):c.1440C>A (p.Leu480=)
|
|
|
|
NM_000135.4(FANCA):c.1440C>G (p.Leu480=)
|
rs1401053307
|
|
|
NM_000135.4(FANCA):c.1441G>A (p.Val481Met)
|
|
|
|
NM_000135.4(FANCA):c.1443G>A (p.Val481=)
|
|
|
|
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
|
|
|
|
NM_000135.4(FANCA):c.144G>A (p.Val48=)
|
rs2143723828
|
|
|
NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr)
|
|
|
|
NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe)
|
rs760790832
|
|
|
NM_000135.4(FANCA):c.1456C>A (p.Pro486Thr)
|
|
|
|
NM_000135.4(FANCA):c.1456C>T (p.Pro486Ser)
|
|
|
|
NM_000135.4(FANCA):c.1459C>G (p.Arg487Gly)
|
rs143083764
|
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
|
NM_000135.4(FANCA):c.145C>A (p.Arg49Ser)
|
|
|
|
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly)
|
rs929925295
|
|
|
NM_000135.4(FANCA):c.1461G>A (p.Arg487=)
|
rs770851522
|
|
|
NM_000135.4(FANCA):c.1461G>C (p.Arg487=)
|
rs770851522
|
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
|
NM_000135.4(FANCA):c.1465C>T (p.Leu489=)
|
|
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
|
NM_000135.4(FANCA):c.146G>A (p.Arg49His)
|
|
|
|
NM_000135.4(FANCA):c.1470+13C>G
|
|
|
|
NM_000135.4(FANCA):c.1470+17C>T
|
rs2039843549
|
|
|
NM_000135.4(FANCA):c.1470+19C>T
|
|
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
|
NM_000135.4(FANCA):c.1470+6A>G
|
|
|
|
NM_000135.4(FANCA):c.1470+7A>C
|
|
|
|
NM_000135.4(FANCA):c.1470G>C (p.Gln490His)
|
rs2039844218
|
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
|
NM_000135.4(FANCA):c.1471-12A>C
|
|
|
|
NM_000135.4(FANCA):c.1471-13TATC[3]
|
|
|
|
NM_000135.4(FANCA):c.1471-14C>G
|
rs764284226
|
|
|
NM_000135.4(FANCA):c.1471-15G>A
|
|
|
|
NM_000135.4(FANCA):c.1471-20G>C
|
rs374579239
|
|
|
NM_000135.4(FANCA):c.1471-20G>T
|
|
|
|
NM_000135.4(FANCA):c.1471-5C>T
|
rs1035775047
|
|
|
NM_000135.4(FANCA):c.1471-7T>A
|
|
|
|
NM_000135.4(FANCA):c.1471-9T>C
|
rs990892001
|
|
|
NM_000135.4(FANCA):c.1471-9_1471-6del
|
rs1372488492
|
|
|
NM_000135.4(FANCA):c.1473G>T (p.Val491=)
|
|
|
|
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)
|
rs925457555
|
|
|
NM_000135.4(FANCA):c.1476C>T (p.His492=)
|
|
|
|
NM_000135.4(FANCA):c.147C>G (p.Arg49=)
|
rs762962148
|
|
|
NM_000135.4(FANCA):c.147C>T (p.Arg49=)
|
rs762962148
|
|
|
NM_000135.4(FANCA):c.1482C>A (p.Leu494=)
|
|
|
|
NM_000135.4(FANCA):c.1482C>G (p.Leu494=)
|
rs1431996844
|
|
|
NM_000135.4(FANCA):c.1482C>T (p.Leu494=)
|
|
|
|
NM_000135.4(FANCA):c.1483C>G (p.His495Asp)
|
|
|
|
NM_000135.4(FANCA):c.1483C>T (p.His495Tyr)
|
|
|
|
NM_000135.4(FANCA):c.1491C>G (p.Pro497=)
|
|
|
|
NM_000135.4(FANCA):c.1492C>G (p.Leu498Val)
|
rs1486117630
|
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
|
NM_000135.4(FANCA):c.1494G>A (p.Leu498=)
|
|
|
|
NM_000135.4(FANCA):c.1494G>C (p.Leu498=)
|
rs747718961
|
|
|
NM_000135.4(FANCA):c.1498C>G (p.Pro500Ala)
|
rs776371246
|
|
|
NM_000135.4(FANCA):c.149T>C (p.Leu50Pro)
|
rs2143723758
|
|
|
NM_000135.4(FANCA):c.1500_1501delinsTA (p.Gly501Ser)
|
rs1598136992
|
|
|
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer)
|
rs878853661
|
|
|
NM_000135.4(FANCA):c.1503C>G (p.Gly501=)
|
|
|
|
NM_000135.4(FANCA):c.1504A>G (p.Lys502Glu)
|
|
|
|
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
|
|
|
|
NM_000135.4(FANCA):c.1509C>T (p.Tyr503=)
|
rs1598136954
|
|
|
NM_000135.4(FANCA):c.150C>A (p.Leu50=)
|
|
|
|
NM_000135.4(FANCA):c.150C>G (p.Leu50=)
|
rs1322931574
|
|
|
NM_000135.4(FANCA):c.150C>T (p.Leu50=)
|
rs1322931574
|
|
|
NM_000135.4(FANCA):c.1511G>A (p.Arg504His)
|
rs778045457
|
|
|
NM_000135.4(FANCA):c.1511G>T (p.Arg504Leu)
|
|
|
|
NM_000135.4(FANCA):c.1515C>T (p.Ser505=)
|
|
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
|
NM_000135.4(FANCA):c.151C>T (p.Leu51=)
|
rs1287320584
|
|
|
NM_000135.4(FANCA):c.1527C>G (p.Asp509Glu)
|
rs755009951
|
|
|
NM_000135.4(FANCA):c.1530C>T (p.Tyr510=)
|
|
|
|
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
|
|
|
|
NM_000135.4(FANCA):c.153G>A (p.Leu51=)
|
rs76278570
|
|
|
NM_000135.4(FANCA):c.153G>T (p.Leu51=)
|
|
|
|
NM_000135.4(FANCA):c.1542C>G (p.Ala514=)
|
rs962460972
|
|
|
NM_000135.4(FANCA):c.1542C>T (p.Ala514=)
|
rs962460972
|
|
|
NM_000135.4(FANCA):c.1556C>G (p.Ala519Gly)
|
|
|
|
NM_000135.4(FANCA):c.1559A>C (p.Asp520Ala)
|
|
|
|
NM_000135.4(FANCA):c.155G>A (p.Arg52Gln)
|
|
|
|
NM_000135.4(FANCA):c.1560C>G (p.Asp520Glu)
|
rs1486566215
|
|
|
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
|
|
|
|
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu)
|
rs1555554630
|
|
|
NM_000135.4(FANCA):c.1566+10C>A
|
rs774919321
|
|
|
NM_000135.4(FANCA):c.1566+10C>G
|
|
|
|
NM_000135.4(FANCA):c.1566+10C>T
|
rs774919321
|
|
|
NM_000135.4(FANCA):c.1566+12C>G
|
|
|
|
NM_000135.4(FANCA):c.1566+12_1566+15del
|
|
|
|
NM_000135.4(FANCA):c.1566+14C>T
|
|
|
|
NM_000135.4(FANCA):c.1566+15C>T
|
|
|
|
NM_000135.4(FANCA):c.1566+16A>G
|
|
|
|
NM_000135.4(FANCA):c.1566+19C>A
|
rs2143460183
|
|
|
NM_000135.4(FANCA):c.1566+1G>T
|
|
|
|
NM_000135.4(FANCA):c.1566+20C>G
|
|
|
|
NM_000135.4(FANCA):c.1566+2C>G
|
|
|
|
NM_000135.4(FANCA):c.1566+2C>T
|
rs1316950815
|
|
|
NM_000135.4(FANCA):c.1566+5G>A
|
rs760087031
|
|
|
NM_000135.4(FANCA):c.1566+9T>G
|
rs1045659143
|
|
|
NM_000135.4(FANCA):c.1567-11C>G
|
|
|
|
NM_000135.4(FANCA):c.1567-13G>A
|
rs2143459544
|
|
|
NM_000135.4(FANCA):c.1567-13_1567-12del
|
|
|
|
NM_000135.4(FANCA):c.1567-15G>A
|
|
|
|
NM_000135.4(FANCA):c.1567-15_1567-10del
|
rs2143459500
|
|
|
NM_000135.4(FANCA):c.1567-16T>C
|
|
|
|
NM_000135.4(FANCA):c.1567-1G>C
|
rs1464032361
|
|
|
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
|
|
|
|
NM_000135.4(FANCA):c.1570T>C (p.Ser524Pro)
|
|
|
|
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys)
|
rs753719658
|
|
|
NM_000135.4(FANCA):c.1572T>C (p.Ser524=)
|
|
|
|
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu)
|
rs755925068
|
|
|
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
|
|
|
|
NM_000135.4(FANCA):c.1578A>G (p.Glu526=)
|
rs2143459307
|
|
|
NM_000135.4(FANCA):c.1581C>T (p.Asn527=)
|
rs1244511322
|
|
|
NM_000135.4(FANCA):c.1587A>G (p.Gly529=)
|
rs1300063021
|
|
|
NM_000135.4(FANCA):c.1588C>G (p.Leu530Val)
|
rs1567628801
|
|
|
NM_000135.4(FANCA):c.1588C>T (p.Leu530Phe)
|
rs1567628801
|
|
|
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.1594G>C (p.Glu532Gln)
|
rs374490484
|
|
|
NM_000135.4(FANCA):c.1596G>A (p.Glu532=)
|
|
|
|
NM_000135.4(FANCA):c.1597G>T (p.Asp533Tyr)
|
|
|
|
NM_000135.4(FANCA):c.159C>T (p.Ser53=)
|
|
|
|
NM_000135.4(FANCA):c.15G>C (p.Trp5Cys)
|
rs2143731999
|
|
|
NM_000135.4(FANCA):c.1606T>G (p.Ser536Ala)
|
|
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
|
NM_000135.4(FANCA):c.1607C>T (p.Ser536Leu)
|
|
|
|
NM_000135.4(FANCA):c.1608A>G (p.Ser536=)
|
|
|
|
NM_000135.4(FANCA):c.1614G>C (p.Gly538=)
|
|
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
|
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
|
|
|
|
NM_000135.4(FANCA):c.1618A>G (p.Ile540Val)
|
|
|
|
NM_000135.4(FANCA):c.1620T>C (p.Ile540=)
|
rs1200375986
|
|
|
NM_000135.4(FANCA):c.1624G>A (p.Glu542Lys)
|
|
|
|
NM_000135.4(FANCA):c.1626+14A>G
|
|
|
|
NM_000135.4(FANCA):c.1626+16C>A
|
rs1800333
|
|
|
NM_000135.4(FANCA):c.1626+17C>G
|
|
|
|
NM_000135.4(FANCA):c.1626+17C>T
|
rs777619836
|
|
|
NM_000135.4(FANCA):c.1626+18C>T
|
|
|
|
NM_000135.4(FANCA):c.1626+20G>A
|
|
|
|
NM_000135.4(FANCA):c.1626+5T>A
|
rs2143458841
|
|
|
NM_000135.4(FANCA):c.1626+5T>C
|
|
|
|
NM_000135.4(FANCA):c.1626+6G>A
|
|
|
|
NM_000135.4(FANCA):c.1626+8T>A
|
rs746097975
|
|
|
NM_000135.4(FANCA):c.1626G>A (p.Glu542=)
|
rs2143458860
|
|
|
NM_000135.4(FANCA):c.1627-10T>C
|
|
|
|
NM_000135.4(FANCA):c.1627-11A>G
|
|
|
|
NM_000135.4(FANCA):c.1627-15C>G
|
|
|
|
NM_000135.4(FANCA):c.1627-16C>G
|
|
|
|
NM_000135.4(FANCA):c.1627-17C>G
|
|
|
|
NM_000135.4(FANCA):c.1627-17C>T
|
|
|
|
NM_000135.4(FANCA):c.1627-19C>T
|
rs2039645766
|
|
|
NM_000135.4(FANCA):c.1627-29_1627-8del
|
rs2143433096
|
|
|
NM_000135.4(FANCA):c.1627-2A>G
|
rs2143433058
|
|
|
NM_000135.4(FANCA):c.1627-4C>T
|
|
|
|
NM_000135.4(FANCA):c.1627-5A>G
|
rs2039645024
|
|
|
NM_000135.4(FANCA):c.1627-8G>T
|
|
|
|
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)
|
rs763074159
|
|
|
NM_000135.4(FANCA):c.1628C>T (p.Pro543Leu)
|
rs2039644737
|
|
|
NM_000135.4(FANCA):c.1629C>G (p.Pro543=)
|
rs2143433021
|
|
|
NM_000135.4(FANCA):c.1630dup (p.His544fs)
|
rs1598129626
|
|
|
NM_000135.4(FANCA):c.1633A>G (p.Ser545Gly)
|
|
|
|
NM_000135.4(FANCA):c.1634G>C (p.Ser545Thr)
|
|
|
|
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro)
|
rs2039644384
|
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
|
NM_000135.4(FANCA):c.1642C>G (p.Leu548Val)
|
|
|
|
NM_000135.4(FANCA):c.1642C>T (p.Leu548Phe)
|
|
|
|
NM_000135.4(FANCA):c.1647G>A (p.Gln549=)
|
|
|
|
NM_000135.4(FANCA):c.1647G>C (p.Gln549His)
|
|
|
|
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile)
|
rs2039643856
|
|
|
NM_000135.4(FANCA):c.1659G>A (p.Lys553=)
|
|
|
|
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr)
|
rs2143432789
|
|
|
NM_000135.4(FANCA):c.1662C>T (p.Ala554=)
|
rs1235279691
|
|
|
NM_000135.4(FANCA):c.1665C>A (p.Ile555=)
|
rs757932868
|
|
|
NM_000135.4(FANCA):c.1665C>G (p.Ile555Met)
|
|
|
|
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn)
|
rs1360481164
|
|
|
NM_000135.4(FANCA):c.1671G>A (p.Val557=)
|
|
|
|
NM_000135.4(FANCA):c.1677G>A (p.Glu559=)
|
|
|
|
NM_000135.4(FANCA):c.1679A>C (p.His560Pro)
|
rs759940726
|
|
|
NM_000135.4(FANCA):c.1679A>G (p.His560Arg)
|
|
|
|
NM_000135.4(FANCA):c.167A>C (p.Asp56Ala)
|
|
|
|
NM_000135.4(FANCA):c.1680T>C (p.His560=)
|
rs2143432638
|
|
|
NM_000135.4(FANCA):c.1681A>T (p.Thr561Ser)
|
rs2143432620
|
|
|
NM_000135.4(FANCA):c.1682C>G (p.Thr561Arg)
|
rs148154682
|
|
|
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met)
|
rs148154682
|
|
|
NM_000135.4(FANCA):c.1683G>C (p.Thr561=)
|
|
|
|
NM_000135.4(FANCA):c.1686G>A (p.Gly562=)
|
rs1457207387
|
|
|
NM_000135.4(FANCA):c.1686G>T (p.Gly562=)
|
|
|
|
NM_000135.4(FANCA):c.168C>T (p.Asp56=)
|
|
|
|
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)
|
rs1060501881
|
|
|
NM_000135.4(FANCA):c.1690A>G (p.Ile564Val)
|
|
|
|
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr)
|
rs769842591
|
|
|
NM_000135.4(FANCA):c.1698C>T (p.Val566=)
|
|
|
|
NM_000135.4(FANCA):c.1699A>G (p.Thr567Ala)
|
|
|
|
NM_000135.4(FANCA):c.16G>T (p.Val6Phe)
|
|
|
|
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser)
|
rs775083851
|
|
|
NM_000135.4(FANCA):c.1701C>A (p.Thr567=)
|
rs745466726
|
|
|
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu)
|
rs778754162
|
|
|
NM_000135.4(FANCA):c.1704C>G (p.Val568=)
|
rs914213734
|
|
|
NM_000135.4(FANCA):c.1704C>T (p.Val568=)
|
|
|
|
NM_000135.4(FANCA):c.1705A>G (p.Met569Val)
|
|
|
|
NM_000135.4(FANCA):c.1709A>G (p.Glu570Gly)
|
rs2039642209
|
|
|
NM_000135.4(FANCA):c.1712C>T (p.Ala571Val)
|
|
|
|
NM_000135.4(FANCA):c.1715+13G>T
|
|
|
|
NM_000135.4(FANCA):c.1715+14C>G
|
|
|
|
NM_000135.4(FANCA):c.1715+15C>A
|
rs755381554
|
|
|
NM_000135.4(FANCA):c.1715+1G>A
|
|
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
|
NM_000135.4(FANCA):c.1715+4G>A
|
|
|
|
NM_000135.4(FANCA):c.1715+7T>C
|
|
|
|
NM_000135.4(FANCA):c.1715+8G>A
|
rs1209332039
|
|
|
NM_000135.4(FANCA):c.1716-11C>G
|
|
|
|
NM_000135.4(FANCA):c.1716-13C>G
|
|
|
|
NM_000135.4(FANCA):c.1716-14T>C
|
|
|
|
NM_000135.4(FANCA):c.1716-16C>A
|
rs942124383
|
|
|
NM_000135.4(FANCA):c.1716-16C>T
|
rs942124383
|
|
|
NM_000135.4(FANCA):c.1716-18T>C
|
|
|
|
NM_000135.4(FANCA):c.1716-2A>G
|
|
|
|
NM_000135.4(FANCA):c.1716-6T>C
|
rs2143424754
|
|
|
NM_000135.4(FANCA):c.1716-6_1716-5dup
|
|
|
|
NM_000135.4(FANCA):c.1716-7_1716-6del
|
rs1252205510
|
|
|
NM_000135.4(FANCA):c.1716-9G>A
|
|
|
|
NM_000135.4(FANCA):c.1716-9G>T
|
|
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
|
NM_000135.4(FANCA):c.1722C>T (p.Phe574=)
|
|
|
|
NM_000135.4(FANCA):c.1727G>C (p.Arg576Thr)
|
rs1047794894
|
|
|
NM_000135.4(FANCA):c.1733A>G (p.Tyr578Cys)
|
rs2143424595
|
|
|
NM_000135.4(FANCA):c.1736A>G (p.Tyr579Cys)
|
|
|
|
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
|
|
|
|
NM_000135.4(FANCA):c.1739T>G (p.Val580Gly)
|
rs2143424514
|
|
|
NM_000135.4(FANCA):c.1743C>T (p.Ser581=)
|
rs2039611416
|
|
|
NM_000135.4(FANCA):c.1746C>T (p.His582=)
|
|
|
|
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
|
|
|
|
NM_000135.4(FANCA):c.174T>C (p.Asn58=)
|
rs2143723506
|
|
|
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val)
|
rs145459403
|
|
|
NM_000135.4(FANCA):c.1752C>T (p.Leu584=)
|
rs2039611137
|
|
|
NM_000135.4(FANCA):c.1755C>A (p.Pro585=)
|
|
|
|
NM_000135.4(FANCA):c.1755C>T (p.Pro585=)
|
rs144704750
|
|
|
NM_000135.4(FANCA):c.1757C>T (p.Ala586Val)
|
|
|
|
NM_000135.4(FANCA):c.1758C>A (p.Ala586=)
|
rs765437064
|
|
|
NM_000135.4(FANCA):c.1758C>T (p.Ala586=)
|
rs765437064
|
|
|
NM_000135.4(FANCA):c.1764C>T (p.Leu588=)
|
|
|
|
NM_000135.4(FANCA):c.1769C>G (p.Pro590Arg)
|
rs757637315
|
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
|
NM_000135.4(FANCA):c.1773A>C (p.Arg591=)
|
rs2143423976
|
|
|
NM_000135.4(FANCA):c.1776+13C>G
|
rs371272310
|
|
|
NM_000135.4(FANCA):c.1776+15C>G
|
rs376346254
|
|
|
NM_000135.4(FANCA):c.1776+15C>T
|
|
|
|
NM_000135.4(FANCA):c.1776+16C>T
|
|
|
|
NM_000135.4(FANCA):c.1776+17A>G
|
rs2143423790
|
|
|
NM_000135.4(FANCA):c.1776+5G>A
|
|
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
|
NM_000135.4(FANCA):c.1776+8T>G
|
rs2143423903
|
|
|
NM_000135.4(FANCA):c.1776+9G>A
|
rs752878349
|
|
|
NM_000135.4(FANCA):c.1776+9G>C
|
rs752878349
|
|
|
NM_000135.4(FANCA):c.1777-10C>A
|
rs781605892
|
|
|
NM_000135.4(FANCA):c.1777-12C>G
|
|
|
|
NM_000135.4(FANCA):c.1777-13dup
|
|
|
|
NM_000135.4(FANCA):c.1777-15C>T
|
rs371919426
|
|
|
NM_000135.4(FANCA):c.1777-17C>G
|
|
|
|
NM_000135.4(FANCA):c.1777-19G>A
|
|
|
|
NM_000135.4(FANCA):c.1777-19G>C
|
|
|
|
NM_000135.4(FANCA):c.1777-2A>G
|
rs2143422990
|
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
|
NM_000135.4(FANCA):c.1777-7C>A
|
|
|
|
NM_000135.4(FANCA):c.1777-7C>T
|
rs375148599
|
|
|
NM_000135.4(FANCA):c.1779C>A (p.Leu593=)
|
rs1016801509
|
|
|
NM_000135.4(FANCA):c.1779C>T (p.Leu593=)
|
rs1016801509
|
|
|
NM_000135.4(FANCA):c.177C>A (p.Ala59=)
|
rs1439661268
|
|
|
NM_000135.4(FANCA):c.1780C>T (p.Pro594Ser)
|
rs2039605850
|
|
|
NM_000135.4(FANCA):c.1782C>T (p.Pro594=)
|
|
|
|
NM_000135.4(FANCA):c.1786G>A (p.Val596Ile)
|
rs1391415619
|
|
|
NM_000135.4(FANCA):c.1788C>G (p.Val596=)
|
|
|
|
NM_000135.4(FANCA):c.1789C>T (p.Pro597Ser)
|
|
|
|
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu)
|
rs2143422796
|
|
|
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys)
|
rs562319781
|
|
|
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
|
rs562319781
|
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
|
NM_000135.4(FANCA):c.1797C>A (p.Ser599=)
|
rs2039605171
|
|
|
NM_000135.4(FANCA):c.1797C>T (p.Ser599=)
|
rs2039605171
|
|
|
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro)
|
rs775917892
|
|
|
NM_000135.4(FANCA):c.17T>G (p.Val6Gly)
|
rs1800282
|
|
|
NM_000135.4(FANCA):c.1804G>T (p.Ala602Ser)
|
|
|
|
NM_000135.4(FANCA):c.1805C>G (p.Ala602Gly)
|
rs374968669
|
|
|
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
|
rs374968669
|
|
|
NM_000135.4(FANCA):c.1806G>C (p.Ala602=)
|
rs550064744
|
|
|
NM_000135.4(FANCA):c.1806G>T (p.Ala602=)
|
rs550064744
|
|
|
NM_000135.4(FANCA):c.1809T>C (p.Phe603=)
|
rs1336095406
|
|
|
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup)
|
rs2039604604
|
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
|
NM_000135.4(FANCA):c.1810A>G (p.Ile604Val)
|
rs2039604673
|
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
|
NM_000135.4(FANCA):c.1816T>G (p.Ser606Ala)
|
rs770164503
|
|
|
NM_000135.4(FANCA):c.1818T>C (p.Ser606=)
|
|
|
|
NM_000135.4(FANCA):c.1819C>T (p.Leu607=)
|
rs2143422308
|
|
|
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs)
|
rs2143422286
|
|
|
NM_000135.4(FANCA):c.1821G>C (p.Leu607=)
|
rs2143422265
|
|
|
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
|
rs2039604081
|
|
|
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
|
rs1598127082
|
|
|
NM_000135.4(FANCA):c.1826+11A>G
|
|
|
|
NM_000135.4(FANCA):c.1826+12C>G
|
rs183513839
|
|
|
NM_000135.4(FANCA):c.1826+17A>G
|
|
|
|
NM_000135.4(FANCA):c.1826+17A>T
|
|
|
|
NM_000135.4(FANCA):c.1826+18G>T
|
|
|
|
NM_000135.4(FANCA):c.1826+20A>G
|
|
|
|
NM_000135.4(FANCA):c.1826+2T>A
|
rs2039603867
|
|
|
NM_000135.4(FANCA):c.1826+3A>G
|
rs925559826
|
|
|
NM_000135.4(FANCA):c.1826+4T>A
|
rs979666807
|
|
|
NM_000135.4(FANCA):c.1826+4T>G
|
rs979666807
|
|
|
NM_000135.4(FANCA):c.1826+5G>A
|
|
|
|
NM_000135.4(FANCA):c.1826+6C>T
|
rs748528553
|
|
|
NM_000135.4(FANCA):c.1826+8G>A
|
|
|
|
NM_000135.4(FANCA):c.1826+9C>T
|
|
|
|
NM_000135.4(FANCA):c.1827-12C>G
|
|
|
|
NM_000135.4(FANCA):c.1827-12C>T
|
|
|
|
NM_000135.4(FANCA):c.1827-17G>C
|
|
|
|
NM_000135.4(FANCA):c.1827-20A>G
|
|
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
|
NM_000135.4(FANCA):c.1827-3C>G
|
rs772236777
|
|
|
NM_000135.4(FANCA):c.1827-4C>A
|
rs775772634
|
|
|
NM_000135.4(FANCA):c.1827-4C>G
|
rs775772634
|
|
|
NM_000135.4(FANCA):c.1827-5T>A
|
rs1378971647
|
|
|
NM_000135.4(FANCA):c.1827-9G>A
|
rs2143393607
|
|
|
NM_000135.4(FANCA):c.1829C>T (p.Ala610Val)
|
rs1598120974
|
|
|
NM_000135.4(FANCA):c.182T>G (p.Leu61Trp)
|
|
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
|
NM_000135.4(FANCA):c.1834A>G (p.Lys612Glu)
|
rs1433333223
|
|
|
NM_000135.4(FANCA):c.1839C>A (p.Ile613=)
|
rs1598120925
|
|
|
NM_000135.4(FANCA):c.1839C>T (p.Ile613=)
|
rs1598120925
|
|
|
NM_000135.4(FANCA):c.183G>A (p.Leu61=)
|
rs1447656431
|
|
|
NM_000135.4(FANCA):c.1840C>T (p.Pro614Ser)
|
|
|
|
NM_000135.4(FANCA):c.1842C>T (p.Pro614=)
|
rs769546891
|
|
|
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser)
|
rs1567623107
|
|
|
NM_000135.4(FANCA):c.1844C>T (p.Pro615Leu)
|
|
|
|
NM_000135.4(FANCA):c.1845A>G (p.Pro615=)
|
rs1490141721
|
|
|
NM_000135.4(FANCA):c.1847C>T (p.Ser616Phe)
|
|
|
|
NM_000135.4(FANCA):c.1849C>G (p.Leu617Val)
|
|
|
|
NM_000135.4(FANCA):c.1849C>T (p.Leu617=)
|
rs2143393232
|
|
|
NM_000135.4(FANCA):c.184C>G (p.Leu62Val)
|
rs2041094921
|
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
|
NM_000135.4(FANCA):c.1851G>A (p.Leu617=)
|
|
|
|
NM_000135.4(FANCA):c.1851G>C (p.Leu617=)
|
rs2143393205
|
|
|
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter)
|
rs747994845
|
|
|
NM_000135.4(FANCA):c.1854C>T (p.Tyr618=)
|
rs747994845
|
|
|
NM_000135.4(FANCA):c.1856C>A (p.Ser619Tyr)
|
rs2039480405
|
|
|
NM_000135.4(FANCA):c.1857C>A (p.Ser619=)
|
|
|
|
NM_000135.4(FANCA):c.1860C>G (p.Thr620=)
|
|
|
|
NM_000135.4(FANCA):c.1863C>T (p.Tyr621=)
|
|
|
|
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
|
|
|
|
NM_000135.4(FANCA):c.1868A>G (p.Gln623Arg)
|
|
|
|
NM_000135.4(FANCA):c.1869G>A (p.Gln623=)
|
|
|
|
NM_000135.4(FANCA):c.186T>A (p.Leu62=)
|
rs1555580352
|
|
|
NM_000135.4(FANCA):c.1870G>T (p.Ala624Ser)
|
rs1403464170
|
|
|
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val)
|
rs146491000
|
|
|
NM_000135.4(FANCA):c.1872C>T (p.Ala624=)
|
rs571449307
|
|
|
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
|
rs139235751
|
|
|
NM_000135.4(FANCA):c.1875C>T (p.Cys625=)
|
|
|
|
NM_000135.4(FANCA):c.1876T>C (p.Ser626Pro)
|
|
|
|
NM_000135.4(FANCA):c.1877C>T (p.Ser626Phe)
|
rs769311485
|
|
|
NM_000135.4(FANCA):c.1879G>C (p.Ala627Pro)
|
|
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
|
NM_000135.4(FANCA):c.188A>C (p.Glu63Ala)
|
rs1567659053
|
|
|
NM_000135.4(FANCA):c.189+10A>G
|
|
|
|
NM_000135.4(FANCA):c.189+12C>T
|
|
|
|
NM_000135.4(FANCA):c.189+14G>A
|
|
|
|
NM_000135.4(FANCA):c.189+14G>T
|
|
|
|
NM_000135.4(FANCA):c.189+15G>C
|
|
|
|
NM_000135.4(FANCA):c.189+17G>T
|
|
|
|
NM_000135.4(FANCA):c.189+19C>T
|
|
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
|
NM_000135.4(FANCA):c.189+20C>A
|
|
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
|
NM_000135.4(FANCA):c.189+3A>G
|
|
|
|
NM_000135.4(FANCA):c.189+3A>T
|
rs2143723295
|
|
|
NM_000135.4(FANCA):c.189+8G>A
|
rs2143723236
|
|
|
NM_000135.4(FANCA):c.1890G>C (p.Glu630Asp)
|
|
|
|
NM_000135.4(FANCA):c.1891A>G (p.Lys631Glu)
|
|
|
|
NM_000135.4(FANCA):c.18C>A (p.Val6=)
|
|
|
|
NM_000135.4(FANCA):c.190-14G>A
|
|
|
|
NM_000135.4(FANCA):c.190-18T>C
|
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
|
NM_000135.4(FANCA):c.190-2A>G
|
|
|
|
NM_000135.4(FANCA):c.190-2_203del
|
rs2143711687
|
|
|
NM_000135.4(FANCA):c.190-5T>C
|
rs368486303
|
|
|
NM_000135.4(FANCA):c.190-7A>G
|
|
|
|
NM_000135.4(FANCA):c.190-7A>T
|
rs994179410
|
|
|
NM_000135.4(FANCA):c.190-8G>C
|
rs2143711952
|
|
|
NM_000135.4(FANCA):c.1900+10T>C
|
rs1225612280
|
|
|
NM_000135.4(FANCA):c.1900+12G>A
|
|
|
|
NM_000135.4(FANCA):c.1900+13G>A
|
|
|
|
NM_000135.4(FANCA):c.1900+14C>T
|
|
|
|
NM_000135.4(FANCA):c.1900+15C>T
|
|
|
|
NM_000135.4(FANCA):c.1900+1G>T
|
rs1598120768
|
|
|
NM_000135.4(FANCA):c.1900+1del
|
|
|
|
NM_000135.4(FANCA):c.1900+20G>T
|
|
|
|
NM_000135.4(FANCA):c.1900+6T>C
|
|
|
|
NM_000135.4(FANCA):c.1900+7T>C
|
rs377401016
|
|
|
NM_000135.4(FANCA):c.1900+8C>G
|
|
|
|
NM_000135.4(FANCA):c.1900+8C>T
|
|
|
|
NM_000135.4(FANCA):c.1901-13C>G
|
|
|
|
NM_000135.4(FANCA):c.1901-14C>A
|
|
|
|
NM_000135.4(FANCA):c.1901-17C>T
|
rs373785724
|
|
|
NM_000135.4(FANCA):c.1901-2A>G
|
rs1555549535
|
|
|
NM_000135.4(FANCA):c.1901-3C>A
|
rs17226526
|
|
|
NM_000135.4(FANCA):c.1901-3C>T
|
|
|
|
NM_000135.4(FANCA):c.1901-5C>G
|
rs1060504375
|
|
|
NM_000135.4(FANCA):c.1901-7C>G
|
rs1449605030
|
|
|
NM_000135.4(FANCA):c.1901-7C>T
|
|
|
|
NM_000135.4(FANCA):c.1901-7_1901-5del
|
rs2143367972
|
|
|
NM_000135.4(FANCA):c.1901-8_1901-6del
|
rs1263015757
|
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
|
NM_000135.4(FANCA):c.1903G>A (p.Ala635Thr)
|
|
|
|
NM_000135.4(FANCA):c.1904C>A (p.Ala635Glu)
|
rs142217479
|
|
|
NM_000135.4(FANCA):c.1907C>T (p.Ala636Val)
|
rs2143367748
|
|
|
NM_000135.4(FANCA):c.1911G>A (p.Leu637=)
|
rs914305609
|
|
|
NM_000135.4(FANCA):c.1913G>A (p.Gly638Glu)
|
|
|
|
NM_000135.4(FANCA):c.1920G>A (p.Arg640=)
|
rs2039390557
|
|
|
NM_000135.4(FANCA):c.1921G>A (p.Ala641Thr)
|
rs867961005
|
|
|
NM_000135.4(FANCA):c.1923A>C (p.Ala641=)
|
rs2143367561
|
|
|
NM_000135.4(FANCA):c.1923A>G (p.Ala641=)
|
|
|
|
NM_000135.4(FANCA):c.1926A>C (p.Glu642Asp)
|
|
|
|
NM_000135.4(FANCA):c.1926A>G (p.Glu642=)
|
rs2039390337
|
|
|
NM_000135.4(FANCA):c.192A>G (p.Val64=)
|
|
|
|
NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser)
|
rs924548467
|
|
|
NM_000135.4(FANCA):c.1932C>G (p.Asn644Lys)
|
rs1598116392
|
|
|
NM_000135.4(FANCA):c.1932C>T (p.Asn644=)
|
rs1598116392
|
|
|
NM_000135.4(FANCA):c.1934C>G (p.Ser645Cys)
|
|
|
|
NM_000135.4(FANCA):c.1935T>C (p.Ser645=)
|
rs2143367365
|
|
|
NM_000135.4(FANCA):c.1935T>G (p.Ser645=)
|
rs2143367365
|
|
|
NM_000135.4(FANCA):c.1940A>G (p.Glu647Gly)
|
rs1374330952
|
|
|
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys)
|
rs1427276212
|
|
|
NM_000135.4(FANCA):c.1945C>T (p.Pro649Ser)
|
|
|
|
NM_000135.4(FANCA):c.1947C>T (p.Pro649=)
|
|
|
|
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
|
|
|
|
NM_000135.4(FANCA):c.1949T>A (p.Leu650Gln)
|
|
|
|
NM_000135.4(FANCA):c.1950G>A (p.Leu650=)
|
|
|
|
NM_000135.4(FANCA):c.1950G>T (p.Leu650=)
|
|
|
|
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
|
|
|
|
NM_000135.4(FANCA):c.1959C>A (p.Leu653=)
|
rs368643963
|
|
|
NM_000135.4(FANCA):c.195A>C (p.Glu65Asp)
|
rs2041029016
|
|
|
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala)
|
rs1555549412
|
|
|
NM_000135.4(FANCA):c.1962A>C (p.Thr654=)
|
|
|
|
NM_000135.4(FANCA):c.1966G>A (p.Ala656Thr)
|
|
|
|
NM_000135.4(FANCA):c.1968A>C (p.Ala656=)
|
|
|
|
NM_000135.4(FANCA):c.196G>T (p.Gly66Cys)
|
|
|
|
NM_000135.4(FANCA):c.1971G>T (p.Leu657=)
|
rs1343452026
|
|
|
NM_000135.4(FANCA):c.1978C>T (p.Leu660=)
|
|
|
|
NM_000135.4(FANCA):c.197G>A (p.Gly66Asp)
|
|
|
|
NM_000135.4(FANCA):c.1980G>T (p.Leu660=)
|
|
|
|
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter)
|
rs1060501878
|
|
|
NM_000135.4(FANCA):c.1985C>T (p.Ala662Val)
|
|
|
|
NM_000135.4(FANCA):c.1986C>A (p.Ala662=)
|
rs568935135
|
|
|
NM_000135.4(FANCA):c.1986C>G (p.Ala662=)
|
rs568935135
|
|
|
NM_000135.4(FANCA):c.1989C>T (p.Ser663=)
|
|
|
|
NM_000135.4(FANCA):c.1991T>G (p.Met664Arg)
|
|
|
|
NM_000135.4(FANCA):c.1998C>T (p.Asp666=)
|
|
|
|
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
|
rs147300317
|
|
|
NM_000135.4(FANCA):c.1999C>T (p.Pro667Ser)
|
rs147300317
|
|
|
NM_000135.4(FANCA):c.19C>A (p.Pro7Thr)
|
|
|
|
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala)
|
rs780667753
|
|
|
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)
|
rs780667753
|
|
|
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.2000C>A (p.Pro667His)
|
rs755293596
|
|
|
NM_000135.4(FANCA):c.2000C>G (p.Pro667Arg)
|
|
|
|
NM_000135.4(FANCA):c.2000C>T (p.Pro667Leu)
|
rs755293596
|
|
|
NM_000135.4(FANCA):c.2001C>T (p.Pro667=)
|
|
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
|
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
|
|
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
|
NM_000135.4(FANCA):c.200del (p.Pro67fs)
|
|
|
|
NM_000135.4(FANCA):c.2010T>G (p.Arg670=)
|
|
|
|
NM_000135.4(FANCA):c.2012A>T (p.Asp671Val)
|
|
|
|
NM_000135.4(FANCA):c.2014+10G>A
|
|
|
|
NM_000135.4(FANCA):c.2014+10G>T
|
rs1567620967
|
|
|
NM_000135.4(FANCA):c.2014+11A>T
|
|
|
|
NM_000135.4(FANCA):c.2014+16_2014+27del
|
|
|
|
NM_000135.4(FANCA):c.2014+18C>T
|
rs758580921
|
|
|
NM_000135.4(FANCA):c.2014+1G>A
|
|
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
|
NM_000135.4(FANCA):c.2014+1del
|
rs2143366415
|
|
|
NM_000135.4(FANCA):c.2014+20C>G
|
rs376320049
|
|
|
NM_000135.4(FANCA):c.2014+20C>T
|
|
|
|
NM_000135.4(FANCA):c.2014+5G>A
|
|
|
|
NM_000135.4(FANCA):c.2014+7A>G
|
|
|
|
NM_000135.4(FANCA):c.2015-16G>C
|
rs2039337410
|
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
|
NM_000135.4(FANCA):c.2015-20_2015-17del
|
|
|
|
NM_000135.4(FANCA):c.2015-2A>C
|
rs2143351760
|
|
|
NM_000135.4(FANCA):c.2015-4G>A
|
rs373954227
|
|
|
NM_000135.4(FANCA):c.2015-4G>C
|
|
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
|
NM_000135.4(FANCA):c.2015-8C>G
|
|
|
|
NM_000135.4(FANCA):c.2015-8del
|
rs1567619964
|
|
|
NM_000135.4(FANCA):c.2015-9C>T
|
rs2143351892
|
|
|
NM_000135.4(FANCA):c.2019A>G (p.Ile673Met)
|
|
|
|
NM_000135.4(FANCA):c.201A>C (p.Pro67=)
|
rs775320466
|
|
|
NM_000135.4(FANCA):c.201A>G (p.Pro67=)
|
rs775320466
|
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
|
NM_000135.4(FANCA):c.2023G>C (p.Ala675Pro)
|
rs752701423
|
|
|
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)
|
rs2143351554
|
|
|
NM_000135.4(FANCA):c.2028G>A (p.Gln676=)
|
rs2039336156
|
|
|
NM_000135.4(FANCA):c.2028G>C (p.Gln676His)
|
rs2039336156
|
|
|
NM_000135.4(FANCA):c.202C>T (p.Leu68=)
|
rs767193138
|
|
|
NM_000135.4(FANCA):c.2034A>C (p.Ala678=)
|
rs2143351424
|
|
|
NM_000135.4(FANCA):c.2034A>G (p.Ala678=)
|
rs2143351424
|
|
|
NM_000135.4(FANCA):c.203T>G (p.Leu68Arg)
|
|
|
|
NM_000135.4(FANCA):c.2043T>C (p.Ser681=)
|
|
|
|
NM_000135.4(FANCA):c.204G>A (p.Leu68=)
|
rs759150554
|
|
|
NM_000135.4(FANCA):c.2050C>A (p.Leu684Met)
|
|
|
|
NM_000135.4(FANCA):c.2050C>G (p.Leu684Val)
|
rs1284083461
|
|
|
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
|
|
|
|
NM_000135.4(FANCA):c.2052G>T (p.Leu684=)
|
rs562025330
|
|
|
NM_000135.4(FANCA):c.2053A>C (p.Arg685=)
|
|
|
|
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs)
|
rs2143351188
|
|
|
NM_000135.4(FANCA):c.2059G>A (p.Val687Ile)
|
|
|
|
NM_000135.4(FANCA):c.2060T>C (p.Val687Ala)
|
|
|
|
NM_000135.4(FANCA):c.2062C>T (p.Leu688=)
|
|
|
|
NM_000135.4(FANCA):c.2064G>C (p.Leu688=)
|
rs2143351022
|
|
|
NM_000135.4(FANCA):c.2067C>G (p.Gly689=)
|
rs2143350973
|
|
|
NM_000135.4(FANCA):c.2070C>T (p.His690=)
|
rs1422723344
|
|
|
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
|
rs941660593
|
|
|
NM_000135.4(FANCA):c.2082C>T (p.Asp694=)
|
|
|
|
NM_000135.4(FANCA):c.2087G>A (p.Ser696Asn)
|
|
|
|
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
|
|
|
|
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu)
|
rs376888740
|
|
|
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp)
|
rs777863668
|
|
|
NM_000135.4(FANCA):c.2091T>G (p.Val697=)
|
|
|
|
NM_000135.4(FANCA):c.2093A>C (p.Glu698Ala)
|
rs2143350667
|
|
|
NM_000135.4(FANCA):c.2095A>T (p.Ile699Leu)
|
|
|
|
NM_000135.4(FANCA):c.2096T>C (p.Ile699Thr)
|
rs752652496
|
|
|
NM_000135.4(FANCA):c.2098T>A (p.Ser700Thr)
|
rs767631694
|
|
|
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro)
|
rs767631694
|
|
|
NM_000135.4(FANCA):c.2099C>T (p.Ser700Leu)
|
|
|
|
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln)
|
rs772712346
|
|
|
NM_000135.4(FANCA):c.20C>G (p.Pro7Arg)
|
rs772712346
|
|
|
NM_000135.4(FANCA):c.2106T>A (p.Ile702=)
|
|
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
|
NM_000135.4(FANCA):c.2109G>A (p.Gln703=)
|
rs371458363
|
|
|
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val)
|
rs1555548507
|
|
|
NM_000135.4(FANCA):c.2118C>G (p.Ile706Met)
|
|
|
|
NM_000135.4(FANCA):c.2121C>T (p.Asn707=)
|
rs544923702
|
|
|
NM_000135.4(FANCA):c.2126C>G (p.Pro709Arg)
|
|
|
|
NM_000135.4(FANCA):c.2127G>A (p.Pro709=)
|
rs771226546
|
|
|
NM_000135.4(FANCA):c.2127G>C (p.Pro709=)
|
rs771226546
|
|
|
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile)
|
rs2039331440
|
|
|
NM_000135.4(FANCA):c.2130A>G (p.Arg710=)
|
|
|
|
NM_000135.4(FANCA):c.2130A>T (p.Arg710Ser)
|
rs2143350061
|
|
|
NM_000135.4(FANCA):c.2131C>T (p.Leu711=)
|
|
|
|
NM_000135.4(FANCA):c.2132T>C (p.Leu711Pro)
|
rs2039331306
|
|
|
NM_000135.4(FANCA):c.2133G>A (p.Leu711=)
|
|
|
|
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys)
|
rs774565293
|
|
|
NM_000135.4(FANCA):c.213A>C (p.Lys71Asn)
|
|
|
|
NM_000135.4(FANCA):c.213A>T (p.Lys71Asn)
|
rs2041027459
|
|
|
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly)
|
rs200284845
|
|
|
NM_000135.4(FANCA):c.2143G>A (p.Glu715Lys)
|
|
|
|
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)
|
rs781436006
|
|
|
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val)
|
rs2039330928
|
|
|
NM_000135.4(FANCA):c.2145A>G (p.Glu715=)
|
|
|
|
NM_000135.4(FANCA):c.2146C>T (p.His716Tyr)
|
|
|
|
NM_000135.4(FANCA):c.2151+10G>A
|
rs2039329782
|
|
|
NM_000135.4(FANCA):c.2151+11G>T
|
|
|
|
NM_000135.4(FANCA):c.2151+12G>T
|
|
|
|
NM_000135.4(FANCA):c.2151+16C>T
|
|
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
|
NM_000135.4(FANCA):c.2151+2T>C
|
rs937874201
|
|
|
NM_000135.4(FANCA):c.2151+4G>A
|
rs1598113342
|
|
|
NM_000135.4(FANCA):c.2151+4G>C
|
|
|
|
NM_000135.4(FANCA):c.2151+7G>A
|
rs2039330078
|
|
|
NM_000135.4(FANCA):c.2151+7_2151+8delinsTC
|
|
|
|
NM_000135.4(FANCA):c.2151+7_2151+8inv
|
|
|
|
NM_000135.4(FANCA):c.2151+8T>G
|
|
|
|
NM_000135.4(FANCA):c.2151+9del
|
rs1470258609
|
|
|
NM_000135.4(FANCA):c.2151G>A (p.Met717Ile)
|
rs1131660
|
|
|
NM_000135.4(FANCA):c.2152-12G>A
|
|
|
|
NM_000135.4(FANCA):c.2152-15A>G
|
|
|
|
NM_000135.4(FANCA):c.2152-16A>T
|
|
|
|
NM_000135.4(FANCA):c.2152-19G>A
|
|
|
|
NM_000135.4(FANCA):c.2152-1G>A
|
|
|
|
NM_000135.4(FANCA):c.2152-5T>C
|
|
|
|
NM_000135.4(FANCA):c.2152-6C>T
|
|
|
|
NM_000135.4(FANCA):c.2152-6_2152-5del
|
|
|
|
NM_000135.4(FANCA):c.2152-8C>G
|
rs1285658774
|
|
|
NM_000135.4(FANCA):c.2152-8C>T
|
rs1285658774
|
|
|
NM_000135.4(FANCA):c.2160C>T (p.Asp720=)
|
rs2143340191
|
|
|
NM_000135.4(FANCA):c.2162T>G (p.Leu721Arg)
|
|
|
|
NM_000135.4(FANCA):c.2164C>G (p.Leu722Val)
|
rs770314137
|
|
|
NM_000135.4(FANCA):c.2164C>T (p.Leu722=)
|
|
|
|
NM_000135.4(FANCA):c.2169G>A (p.Leu723=)
|
|
|
|
NM_000135.4(FANCA):c.216G>A (p.Leu72=)
|
|
|
|
NM_000135.4(FANCA):c.2172G>A (p.Thr724=)
|
rs768851944
|
|
|
NM_000135.4(FANCA):c.2172G>T (p.Thr724=)
|
rs768851944
|
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
|
NM_000135.4(FANCA):c.2174C>G (p.Ser725Cys)
|
|
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
|
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu)
|
rs1163885123
|
|
|
NM_000135.4(FANCA):c.2178C>T (p.Phe726=)
|
|
|
|
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
|
|
|
|
NM_000135.4(FANCA):c.2187C>T (p.Asn729=)
|
rs771833978
|
|
|
NM_000135.4(FANCA):c.218C>T (p.Ser73Phe)
|
|
|
|
NM_000135.4(FANCA):c.2190G>C (p.Leu730=)
|
|
|
|
NM_000135.4(FANCA):c.2196T>A (p.Ala732=)
|
rs2143339914
|
|
|
NM_000135.4(FANCA):c.2197G>A (p.Ala733Thr)
|
|
|
|
NM_000135.4(FANCA):c.21G>A (p.Pro7=)
|
rs115856189
|
|
|
NM_000135.4(FANCA):c.21G>C (p.Pro7=)
|
rs115856189
|
|
|
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs)
|
rs1394491958
|
|
|
NM_000135.4(FANCA):c.2202C>T (p.Ser734=)
|
|
|
|
NM_000135.4(FANCA):c.2204G>A (p.Ser735Asn)
|
|
|
|
NM_000135.4(FANCA):c.2204G>T (p.Ser735Ile)
|
|
|
|
NM_000135.4(FANCA):c.2205T>C (p.Ser735=)
|
rs2143339774
|
|
|
NM_000135.4(FANCA):c.2208C>T (p.Val736=)
|
rs755638734
|
|
|
NM_000135.4(FANCA):c.2211T>C (p.Ala737=)
|
|
|
|
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr)
|
rs751015814
|
|
|
NM_000135.4(FANCA):c.2212C>G (p.Pro738Ala)
|
rs751015814
|
|
|
NM_000135.4(FANCA):c.2213C>A (p.Pro738His)
|
rs762333391
|
|
|
NM_000135.4(FANCA):c.2214C>G (p.Pro738=)
|
|
|
|
NM_000135.4(FANCA):c.2216C>G (p.Pro739Arg)
|
rs45441106
|
|
|
NM_000135.4(FANCA):c.2217G>A (p.Pro739=)
|
|
|
|
NM_000135.4(FANCA):c.2217G>C (p.Pro739=)
|
rs764163027
|
|
|
NM_000135.4(FANCA):c.221_222del (p.Leu74fs)
|
rs2041026878
|
|
|
NM_000135.4(FANCA):c.2222+11G>A
|
|
|
|
NM_000135.4(FANCA):c.2222+11G>C
|
|
|
|
NM_000135.4(FANCA):c.2222+11G>T
|
|
|
|
NM_000135.4(FANCA):c.2222+13G>C
|
rs2143339468
|
|
|
NM_000135.4(FANCA):c.2222+14C>A
|
rs368973617
|
|
|
NM_000135.4(FANCA):c.2222+16G>C
|
|
|
|
NM_000135.4(FANCA):c.2222+16G>T
|
|
|
|
NM_000135.4(FANCA):c.2222+19C>A
|
|
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
|
NM_000135.4(FANCA):c.2222+4A>G
|
|
|
|
NM_000135.4(FANCA):c.2222+5A>G
|
|
|
|
NM_000135.4(FANCA):c.2222+5A>T
|
|
|
|
NM_000135.4(FANCA):c.2222+7dup
|
|
|
|
NM_000135.4(FANCA):c.2222+9G>A
|
rs774316742
|
|
|
NM_000135.4(FANCA):c.2223-13G>T
|
|
|
|
NM_000135.4(FANCA):c.2223-17C>T
|
|
|
|
NM_000135.4(FANCA):c.2223-3C>T
|
rs2039278966
|
|
|
NM_000135.4(FANCA):c.2223-4G>T
|
|
|
|
NM_000135.4(FANCA):c.2223-6C>G
|
rs759682612
|
|
|
NM_000135.4(FANCA):c.2223-6_2223-5del
|
|
|
|
NM_000135.4(FANCA):c.2223-7T>C
|
|
|
|
NM_000135.4(FANCA):c.2223-8C>G
|
rs1598110961
|
|
|
NM_000135.4(FANCA):c.2227G>A (p.Gly743Ser)
|
|
|
|
NM_000135.4(FANCA):c.2232C>T (p.Pro744=)
|
|
|
|
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr)
|
rs931143821
|
|
|
NM_000135.4(FANCA):c.2242del (p.Leu748fs)
|
rs2143336491
|
|
|
NM_000135.4(FANCA):c.2244C>G (p.Leu748=)
|
|
|
|
NM_000135.4(FANCA):c.2244del (p.Phe749fs)
|
rs2143336461
|
|
|
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
|
rs747723074
|
|
|
NM_000135.4(FANCA):c.2250G>C (p.Val750=)
|
|
|
|
NM_000135.4(FANCA):c.2253G>A (p.Arg751=)
|
rs1345505146
|
|
|
NM_000135.4(FANCA):c.2253dup (p.Thr752fs)
|
rs2143336354
|
|
|
NM_000135.4(FANCA):c.2257A>G (p.Met753Val)
|
rs757797015
|
|
|
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
|
|
|
|
NM_000135.4(FANCA):c.2267G>A (p.Arg756His)
|
|
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
|
NM_000135.4(FANCA):c.2268T>G (p.Arg756=)
|
rs2143336151
|
|
|
NM_000135.4(FANCA):c.226A>G (p.Lys76Glu)
|
rs2143711335
|
|
|
NM_000135.4(FANCA):c.2275C>T (p.Pro759Ser)
|
|
|
|
NM_000135.4(FANCA):c.2280A>G (p.Ala760=)
|
rs1598110765
|
|
|
NM_000135.4(FANCA):c.2283G>A (p.Val761=)
|
|
|
|
NM_000135.4(FANCA):c.2284C>T (p.Leu762Phe)
|
|
|
|
NM_000135.4(FANCA):c.2285T>C (p.Leu762Pro)
|
|
|
|
NM_000135.4(FANCA):c.2286C>T (p.Leu762=)
|
rs1419118181
|
|
|
NM_000135.4(FANCA):c.2288C>T (p.Thr763Ile)
|
|
|
|
NM_000135.4(FANCA):c.2289C>A (p.Thr763=)
|
rs2143335900
|
|
|
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.2301G>A (p.Gln767=)
|
|
|
|
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
|
rs917707717
|
|
|
NM_000135.4(FANCA):c.2307C>A (p.Leu769=)
|
rs1226177820
|
|
|
NM_000135.4(FANCA):c.2307C>T (p.Leu769=)
|
|
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
|
NM_000135.4(FANCA):c.2316+13T>C
|
rs2143335460
|
|
|
NM_000135.4(FANCA):c.2316+16A>G
|
|
|
|
NM_000135.4(FANCA):c.2316+16A>T
|
rs779657463
|
|
|
NM_000135.4(FANCA):c.2316+17T>A
|
|
|
|
NM_000135.4(FANCA):c.2316+17T>C
|
|
|
|
NM_000135.4(FANCA):c.2316+18G>A
|
|
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
|
NM_000135.4(FANCA):c.2316+6G>T
|
rs1399631313
|
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
|
NM_000135.4(FANCA):c.2317-10C>T
|
|
|
|
NM_000135.4(FANCA):c.2317-12T>A
|
|
|
|
NM_000135.4(FANCA):c.2317-13A>G
|
|
|
|
NM_000135.4(FANCA):c.2317-17C>A
|
|
|
|
NM_000135.4(FANCA):c.2317-19A>T
|
|
|
|
NM_000135.4(FANCA):c.2317-1G>A
|
rs1230207719
|
|
|
NM_000135.4(FANCA):c.2317-1G>T
|
rs1230207719
|
|
|
NM_000135.4(FANCA):c.2317-20C>T
|
|
|
|
NM_000135.4(FANCA):c.2317-4G>A
|
rs775272801
|
|
|
NM_000135.4(FANCA):c.2317-4G>C
|
|
|
|
NM_000135.4(FANCA):c.2318G>A (p.Gly773Asp)
|
rs2143333930
|
|
|
NM_000135.4(FANCA):c.231G>A (p.Val77=)
|
|
|
|
NM_000135.4(FANCA):c.2320C>T (p.Pro774Ser)
|
|
|
|
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg)
|
rs545765795
|
|
|
NM_000135.4(FANCA):c.2325C>T (p.Ser775=)
|
rs545765795
|
|
|
NM_000135.4(FANCA):c.2331T>C (p.Ser777=)
|
rs2143333727
|
|
|
NM_000135.4(FANCA):c.2332G>A (p.Ala778Thr)
|
rs1242381795
|
|
|
NM_000135.4(FANCA):c.2334C>T (p.Ala778=)
|
rs1308389715
|
|
|
NM_000135.4(FANCA):c.2337A>G (p.Pro779=)
|
|
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
|
NM_000135.4(FANCA):c.2341G>A (p.Val781Met)
|
rs1246628258
|
|
|
NM_000135.4(FANCA):c.2341G>T (p.Val781Leu)
|
rs1246628258
|
|
|
NM_000135.4(FANCA):c.2343G>T (p.Val781=)
|
|
|
|
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg)
|
rs747315724
|
|
|
NM_000135.4(FANCA):c.2346G>T (p.Leu782=)
|
|
|
|
NM_000135.4(FANCA):c.2349G>C (p.Gly783=)
|
|
|
|
NM_000135.4(FANCA):c.234T>C (p.Ile78=)
|
rs2143711235
|
|
|
NM_000135.4(FANCA):c.2356G>T (p.Ala786Ser)
|
|
|
|
NM_000135.4(FANCA):c.2361G>C (p.Leu787=)
|
rs2143333278
|
|
|
NM_000135.4(FANCA):c.2364C>A (p.Ala788=)
|
rs149754397
|
|
|
NM_000135.4(FANCA):c.2365G>A (p.Val789Met)
|
rs771698195
|
|
|
NM_000135.4(FANCA):c.2368C>G (p.His790Asp)
|
rs2039266002
|
|
|
NM_000135.4(FANCA):c.2368C>T (p.His790Tyr)
|
|
|
|
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
|
rs1336033143
|
|
|
NM_000135.4(FANCA):c.2370C>T (p.His790=)
|
rs753818673
|
|
|
NM_000135.4(FANCA):c.2371C>G (p.Leu791Val)
|
|
|
|
NM_000135.4(FANCA):c.2382C>T (p.Ser794=)
|
rs1223394099
|
|
|
NM_000135.4(FANCA):c.2383A>C (p.Arg795=)
|
rs767455904
|
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
|
NM_000135.4(FANCA):c.2391G>T (p.Ala797=)
|
|
|
|
NM_000135.4(FANCA):c.2395C>G (p.Pro799Ala)
|
rs762439008
|
|
|
NM_000135.4(FANCA):c.2397A>G (p.Pro799=)
|
rs2143332878
|
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
|
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly)
|
rs2039264657
|
|
|
NM_000135.4(FANCA):c.2399A>T (p.Glu800Val)
|
rs2039264657
|
|
|
NM_000135.4(FANCA):c.239G>A (p.Cys80Tyr)
|
rs1043175440
|
|
|
NM_000135.4(FANCA):c.23A>T (p.Asn8Ile)
|
rs757468756
|
|
|
NM_000135.4(FANCA):c.2402T>A (p.Val801Glu)
|
rs772721300
|
|
|
NM_000135.4(FANCA):c.2403G>C (p.Val801=)
|
rs969366978
|
|
|
NM_000135.4(FANCA):c.2403G>T (p.Val801=)
|
|
|
|
NM_000135.4(FANCA):c.2406T>C (p.Asp802=)
|
rs2143332765
|
|
|
NM_000135.4(FANCA):c.2409G>C (p.Val803=)
|
rs1598110129
|
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
|
NM_000135.4(FANCA):c.2414C>T (p.Pro805Leu)
|
rs1303230442
|
|
|
NM_000135.4(FANCA):c.2416C>T (p.Pro806Ser)
|
|
|
|
NM_000135.4(FANCA):c.2422C>G (p.Pro808Ala)
|
rs772367440
|
|
|
NM_000135.4(FANCA):c.2424T>A (p.Pro808=)
|
|
|
|
NM_000135.4(FANCA):c.2424T>C (p.Pro808=)
|
|
|
|
NM_000135.4(FANCA):c.2426G>T (p.Gly809Val)
|
|
|
|
NM_000135.4(FANCA):c.2426_2427inv (p.Gly809Asp)
|
|
|
|
NM_000135.4(FANCA):c.2428G>T (p.Ala810Ser)
|
rs1263882781
|
|
|
NM_000135.4(FANCA):c.2429C>G (p.Ala810Gly)
|
rs1486995764
|
|
|
NM_000135.4(FANCA):c.2430T>A (p.Ala810=)
|
|
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
|
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
|
|
|
|
NM_000135.4(FANCA):c.2439T>G (p.Pro813=)
|
rs2143332287
|
|
|
NM_000135.4(FANCA):c.243C>T (p.Asp81=)
|
|
|
|
NM_000135.4(FANCA):c.2442C>T (p.Val814=)
|
|
|
|
NM_000135.4(FANCA):c.2443C>T (p.Pro815Ser)
|
|
|
|
NM_000135.4(FANCA):c.2444C>T (p.Pro815Leu)
|
|
|
|
NM_000135.4(FANCA):c.2445T>C (p.Pro815=)
|
rs1489533103
|
|
|
NM_000135.4(FANCA):c.2447C>A (p.Ala816Glu)
|
|
|
|
NM_000135.4(FANCA):c.2449C>G (p.Leu817Val)
|
|
|
|
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
|
|
|
|
NM_000135.4(FANCA):c.2454T>C (p.Phe818=)
|
rs2143332088
|
|
|
NM_000135.4(FANCA):c.2455G>C (p.Asp819His)
|
|
|
|
NM_000135.4(FANCA):c.2457C>T (p.Asp819=)
|
rs1216645940
|
|
|
NM_000135.4(FANCA):c.245G>A (p.Ser82Asn)
|
|
|
|
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr)
|
rs1459045387
|
|
|
NM_000135.4(FANCA):c.2463C>G (p.Leu821=)
|
rs781019889
|
|
|
NM_000135.4(FANCA):c.2463C>T (p.Leu821=)
|
|
|
|
NM_000135.4(FANCA):c.2464C>T (p.Leu822=)
|
|
|
|
NM_000135.4(FANCA):c.2466G>A (p.Leu822=)
|
|
|
|
NM_000135.4(FANCA):c.2466G>T (p.Leu822=)
|
rs2143331866
|
|
|
NM_000135.4(FANCA):c.2469C>A (p.Thr823=)
|
|
|
|
NM_000135.4(FANCA):c.2472T>C (p.Cys824=)
|
rs2039261844
|
|
|
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met)
|
rs765888048
|
|
|
NM_000135.4(FANCA):c.2482dup (p.Asp828fs)
|
rs2143331597
|
|
|
NM_000135.4(FANCA):c.2484T>C (p.Asp828=)
|
|
|
|
NM_000135.4(FANCA):c.2490G>T (p.Leu830Phe)
|
rs2039261142
|
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
|
NM_000135.4(FANCA):c.2496C>T (p.Phe832=)
|
rs2039260982
|
|
|
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)
|
|
|
|
NM_000135.4(FANCA):c.24C>T (p.Asn8=)
|
rs76275444
|
|
|
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)
|
|
|
|
NM_000135.4(FANCA):c.2504+10T>C
|
rs770043372
|
|
|
NM_000135.4(FANCA):c.2504+11C>T
|
|
|
|
NM_000135.4(FANCA):c.2504+11_2504+12insCA
|
|
|
|
NM_000135.4(FANCA):c.2504+12_2504+14del
|
rs1023581563
|
|
|
NM_000135.4(FANCA):c.2504+16A>C
|
|
|
|
NM_000135.4(FANCA):c.2504+16A>G
|
|
|
|
NM_000135.4(FANCA):c.2504+17C>T
|
|
|
|
NM_000135.4(FANCA):c.2504+18del
|
|
|
|
NM_000135.4(FANCA):c.2504+1G>C
|
rs2039260545
|
|
|
NM_000135.4(FANCA):c.2504+7T>C
|
rs1212871121
|
|
|
NM_000135.4(FANCA):c.2504+8C>A
|
rs529177917
|
|
|
NM_000135.4(FANCA):c.2505-10C>G
|
rs1271668667
|
|
|
NM_000135.4(FANCA):c.2505-10_2505-9del
|
rs766900188
|
|
|
NM_000135.4(FANCA):c.2505-12T>G
|
|
|
|
NM_000135.4(FANCA):c.2505-15A>T
|
|
|
|
NM_000135.4(FANCA):c.2505-15_2505-13del
|
rs1420343115
|
|
|
NM_000135.4(FANCA):c.2505-17A>G
|
|
|
|
NM_000135.4(FANCA):c.2505-1G>C
|
rs1438990537
|
|
|
NM_000135.4(FANCA):c.2505-30_2505-10del
|
rs1598106124
|
|
|
NM_000135.4(FANCA):c.2505-4T>C
|
|
|
|
NM_000135.4(FANCA):c.2505-4del
|
|
|
|
NM_000135.4(FANCA):c.2505-5T>C
|
rs768436599
|
|
|
NM_000135.4(FANCA):c.2505-8G>A
|
rs2143308956
|
|
|
NM_000135.4(FANCA):c.2505-8G>C
|
rs2143308956
|
|
|
NM_000135.4(FANCA):c.2505-8G>T
|
rs2143308956
|
|
|
NM_000135.4(FANCA):c.2505A>G (p.Lys835=)
|
rs1555546563
|
|
|
NM_000135.4(FANCA):c.2508T>C (p.Phe836=)
|
|
|
|
NM_000135.4(FANCA):c.2514A>G (p.Thr838=)
|
|
|
|
NM_000135.4(FANCA):c.2516C>G (p.Ala839Gly)
|
|
|
|
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)
|
rs587778313
|
|
|
NM_000135.4(FANCA):c.2521A>G (p.Ile841Val)
|
|
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
|
NM_000135.4(FANCA):c.2525C>G (p.Ser842Cys)
|
|
|
|
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys)
|
rs1567616244
|
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
|
NM_000135.4(FANCA):c.2529C>T (p.Tyr843=)
|
rs1247378731
|
|
|
NM_000135.4(FANCA):c.2531C>G (p.Ser844Cys)
|
|
|
|
NM_000135.4(FANCA):c.2532T>C (p.Ser844=)
|
rs778591541
|
|
|
NM_000135.4(FANCA):c.2535C>G (p.Leu845=)
|
|
|
|
NM_000135.4(FANCA):c.2535C>T (p.Leu845=)
|
rs1362752790
|
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
|
NM_000135.4(FANCA):c.253G>A (p.Ala85Thr)
|
rs2143711037
|
|
|
NM_000135.4(FANCA):c.2540A>C (p.Lys847Thr)
|
|
|
|
NM_000135.4(FANCA):c.2546del (p.Ser849fs)
|
rs1060501876
|
|
|
NM_000135.4(FANCA):c.2549C>A (p.Ser850Tyr)
|
|
|
|
NM_000135.4(FANCA):c.254C>G (p.Ala85Gly)
|
|
|
|
NM_000135.4(FANCA):c.2550C>T (p.Ser850=)
|
rs755395838
|
|
|
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.2558G>A (p.Arg853Gln)
|
rs753393669
|
|
|
NM_000135.4(FANCA):c.255C>A (p.Ala85=)
|
rs780353222
|
|
|
NM_000135.4(FANCA):c.255C>G (p.Ala85=)
|
|
|
|
NM_000135.4(FANCA):c.255C>T (p.Ala85=)
|
rs780353222
|
|
|
NM_000135.4(FANCA):c.2562T>C (p.Asp854=)
|
|
|
|
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
|
|
|
|
NM_000135.4(FANCA):c.2564del (p.Thr855fs)
|
rs2143308216
|
|
|
NM_000135.4(FANCA):c.2571C>T (p.Cys857=)
|
|
|
|
NM_000135.4(FANCA):c.257A>G (p.Tyr86Cys)
|
|
|
|
NM_000135.4(FANCA):c.2580A>G (p.Leu860=)
|
rs1852141936
|
|
|
NM_000135.4(FANCA):c.2584C>G (p.Pro862Ala)
|
|
|
|
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser)
|
rs2039157272
|
|
|
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.2593A>G (p.Ile865Val)
|
rs878853662
|
|
|
NM_000135.4(FANCA):c.259G>C (p.Ala87Pro)
|
|
|
|
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu)
|
rs2143731757
|
|
|
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
|
rs2039156731
|
|
|
NM_000135.4(FANCA):c.2601+12C>G
|
|
|
|
NM_000135.4(FANCA):c.2601+12_2601+13del
|
|
|
|
NM_000135.4(FANCA):c.2601+15T>A
|
|
|
|
NM_000135.4(FANCA):c.2601+15_2601+16del
|
|
|
|
NM_000135.4(FANCA):c.2601+18C>G
|
|
|
|
NM_000135.4(FANCA):c.2601+18C>T
|
rs748995903
|
|
|
NM_000135.4(FANCA):c.2601+20A>G
|
|
|
|
NM_000135.4(FANCA):c.2601+5G>T
|
|
|
|
NM_000135.4(FANCA):c.2601+8C>A
|
|
|
|
NM_000135.4(FANCA):c.2601+8C>T
|
rs775561931
|
|
|
NM_000135.4(FANCA):c.2601+9A>T
|
rs771837383
|
|
|
NM_000135.4(FANCA):c.2601G>A (p.Lys867=)
|
rs746889340
|
|
|
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn)
|
rs746889340
|
|
|
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)
|
rs746889340
|
|
|
NM_000135.4(FANCA):c.2602-11C>G
|
|
|
|
NM_000135.4(FANCA):c.2602-11C>T
|
|
|
|
NM_000135.4(FANCA):c.2602-12T>A
|
|
|
|
NM_000135.4(FANCA):c.2602-12T>C
|
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
|
NM_000135.4(FANCA):c.2602-17G>A
|
|
|
|
NM_000135.4(FANCA):c.2602-17G>C
|
|
|
|
NM_000135.4(FANCA):c.2602-18G>C
|
rs774316884
|
|
|
NM_000135.4(FANCA):c.2602-19G>A
|
rs17233225
|
|
|
NM_000135.4(FANCA):c.2602-19G>C
|
rs17233225
|
|
|
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.2602-3C>G
|
rs2143289922
|
|
|
NM_000135.4(FANCA):c.2602-4T>C
|
|
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
|
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
|
|
|
|
NM_000135.4(FANCA):c.2607G>C (p.Gln869His)
|
rs1555545583
|
|
|
NM_000135.4(FANCA):c.2613C>A (p.Leu871=)
|
rs532032511
|
|
|
NM_000135.4(FANCA):c.2613C>G (p.Leu871=)
|
|
|
|
NM_000135.4(FANCA):c.2614A>G (p.Met872Val)
|
|
|
|
NM_000135.4(FANCA):c.261T>C (p.Ala87=)
|
|
|
|
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly)
|
|
|
|
NM_000135.4(FANCA):c.2625G>A (p.Leu875=)
|
|
|
|
NM_000135.4(FANCA):c.2628C>G (p.Phe876Leu)
|
|
|
|
NM_000135.4(FANCA):c.2629T>A (p.Ser877Thr)
|
|
|
|
NM_000135.4(FANCA):c.2629T>C (p.Ser877Pro)
|
rs1322274178
|
|
|
NM_000135.4(FANCA):c.262A>T (p.Asn88Tyr)
|
rs913466405
|
|
|
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys)
|
|
|
|
NM_000135.4(FANCA):c.2634G>A (p.Glu878=)
|
rs2143289424
|
|
|
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly)
|
rs762804216
|
|
|
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)
|
|
|
|
NM_000135.4(FANCA):c.2640A>T (p.Arg880=)
|
|
|
|
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
|
rs2039078843
|
|
|
NM_000135.4(FANCA):c.2644C>A (p.Pro882Thr)
|
|
|
|
NM_000135.4(FANCA):c.2644C>T (p.Pro882Ser)
|
rs1938055960
|
|
|
NM_000135.4(FANCA):c.2647C>G (p.Leu883Val)
|
|
|
|
NM_000135.4(FANCA):c.2650T>C (p.Ser884Pro)
|
|
|
|
NM_000135.4(FANCA):c.2652T>G (p.Ser884=)
|
|
|
|
NM_000135.4(FANCA):c.2655G>A (p.Glu885=)
|
|
|
|
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter)
|
rs1487360770
|
|
|
NM_000135.4(FANCA):c.2658G>A (p.Glu886=)
|
|
|
|
NM_000135.4(FANCA):c.2660A>G (p.Asp887Gly)
|
rs1222220230
|
|
|
NM_000135.4(FANCA):c.2662G>C (p.Val888Leu)
|
rs774863156
|
|
|
NM_000135.4(FANCA):c.2664A>T (p.Val888=)
|
|
|
|
NM_000135.4(FANCA):c.2667del (p.Ser890fs)
|
rs1555545517
|
|
|
NM_000135.4(FANCA):c.2670C>T (p.Ser890=)
|
rs1419813684
|
|
|
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr)
|
|
|
|
NM_000135.4(FANCA):c.2676C>A (p.Ser892=)
|
rs756478412
|
|
|
NM_000135.4(FANCA):c.2676C>G (p.Ser892=)
|
rs756478412
|
|
|
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter)
|
rs2039077331
|
|
|
NM_000135.4(FANCA):c.2683C>G (p.Pro895Ala)
|
rs755207440
|
|
|
NM_000135.4(FANCA):c.2684C>A (p.Pro895His)
|
rs1234246540
|
|
|
NM_000135.4(FANCA):c.2687T>G (p.Leu896Trp)
|
rs2143288811
|
|
|
NM_000135.4(FANCA):c.2688G>A (p.Leu896=)
|
rs142393744
|
|
|
NM_000135.4(FANCA):c.2688G>T (p.Leu896Phe)
|
rs142393744
|
|
|
NM_000135.4(FANCA):c.2689C>T (p.His897Tyr)
|
rs766402927
|
|
|
NM_000135.4(FANCA):c.2692C>G (p.Leu898Val)
|
|
|
|
NM_000135.4(FANCA):c.269C>G (p.Ser90Cys)
|
|
|
|
NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr)
|
rs752776388
|
|
|
NM_000135.4(FANCA):c.26C>G (p.Ser9Cys)
|
rs752776388
|
|
|
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe)
|
rs752776388
|
|
|
NM_000135.4(FANCA):c.2700T>C (p.Ser900=)
|
rs755783870
|
|
|
NM_000135.4(FANCA):c.2703A>G (p.Ala901=)
|
rs2143288685
|
|
|
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.270T>C (p.Ser90=)
|
rs1322323561
|
|
|
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
|
rs2039076227
|
|
|
NM_000135.4(FANCA):c.2711A>G (p.Gln904Arg)
|
rs776576487
|
|
|
NM_000135.4(FANCA):c.2712G>C (p.Gln904His)
|
|
|
|
NM_000135.4(FANCA):c.2717del (p.Ala906fs)
|
rs2143288542
|
|
|
NM_000135.4(FANCA):c.2720C>T (p.Ala907Val)
|
|
|
|
NM_000135.4(FANCA):c.2721C>G (p.Ala907=)
|
rs775013707
|
|
|
NM_000135.4(FANCA):c.2721C>T (p.Ala907=)
|
|
|
|
NM_000135.4(FANCA):c.2727T>C (p.Ser909=)
|
|
|
|
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile)
|
rs1216426444
|
|
|
NM_000135.4(FANCA):c.2728C>G (p.Leu910Val)
|
rs1216426444
|
|
|
NM_000135.4(FANCA):c.2730C>G (p.Leu910=)
|
|
|
|
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)
|
rs878853663
|
|
|
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)
|
rs1220495259
|
|
|
NM_000135.4(FANCA):c.2735C>A (p.Thr912Lys)
|
rs376302719
|
|
|
NM_000135.4(FANCA):c.2736A>C (p.Thr912=)
|
|
|
|
NM_000135.4(FANCA):c.2739_2740del (p.His913fs)
|
rs1186669727
|
|
|
NM_000135.4(FANCA):c.2741G>T (p.Arg914Ile)
|
|
|
|
NM_000135.4(FANCA):c.2745C>A (p.Thr915=)
|
rs781543214
|
|
|
NM_000135.4(FANCA):c.2745C>T (p.Thr915=)
|
rs781543214
|
|
|
NM_000135.4(FANCA):c.2749C>A (p.Arg917=)
|
|
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
|
NM_000135.4(FANCA):c.2752G>C (p.Glu918Gln)
|
|
|
|
NM_000135.4(FANCA):c.2756T>C (p.Val919Ala)
|
rs202131468
|
|
|
NM_000135.4(FANCA):c.275C>T (p.Ser92Leu)
|
|
|
|
NM_000135.4(FANCA):c.2760G>C (p.Leu920Phe)
|
|
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
|
NM_000135.4(FANCA):c.2765A>C (p.Glu922Ala)
|
rs899634878
|
|
|
NM_000135.4(FANCA):c.2768A>T (p.Glu923Val)
|
|
|
|
NM_000135.4(FANCA):c.2778+11G>A
|
rs1211560919
|
|
|
NM_000135.4(FANCA):c.2778+11G>T
|
rs1211560919
|
|
|
NM_000135.4(FANCA):c.2778+13T>G
|
|
|
|
NM_000135.4(FANCA):c.2778+19_2778+101del
|
rs1567614267
|
|
|
NM_000135.4(FANCA):c.2778+1G>C
|
rs140180549
|
|
|
NM_000135.4(FANCA):c.2778+20_2778+22del
|
rs778787539
|
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
|
NM_000135.4(FANCA):c.2778+3A>G
|
rs757261567
|
|
|
NM_000135.4(FANCA):c.2778+51_2778+133del
|
rs2143286378
|
|
|
NM_000135.4(FANCA):c.2778+7_2778+36del
|
rs1253945933
|
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
|
NM_000135.4(FANCA):c.2778+9C>T
|
rs2143287939
|
|
|
NM_000135.4(FANCA):c.2778C>T (p.His926=)
|
|
|
|
NM_000135.4(FANCA):c.2779-10T>C
|
rs1434480162
|
|
|
NM_000135.4(FANCA):c.2779-11C>T
|
rs185392597
|
|
|
NM_000135.4(FANCA):c.2779-12T>C
|
|
|
|
NM_000135.4(FANCA):c.2779-13CT[2]
|
rs1567612434
|
|
|
NM_000135.4(FANCA):c.2779-14G>C
|
|
|
|
NM_000135.4(FANCA):c.2779-14G>T
|
|
|
|
NM_000135.4(FANCA):c.2779-16T>A
|
|
|
|
NM_000135.4(FANCA):c.2779-16_2779-15delinsCG
|
|
|
|
NM_000135.4(FANCA):c.2779-18G>A
|
|
|
|
NM_000135.4(FANCA):c.2779-18G>C
|
|
|
|
NM_000135.4(FANCA):c.2779-19T>C
|
|
|
|
NM_000135.4(FANCA):c.2779-1G>T
|
rs2143261385
|
|
|
NM_000135.4(FANCA):c.2779-20T>C
|
rs758046281
|
|
|
NM_000135.4(FANCA):c.2779-20T>G
|
|
|
|
NM_000135.4(FANCA):c.2779-3C>T
|
|
|
|
NM_000135.4(FANCA):c.2779-5C>G
|
rs753286882
|
|
|
NM_000135.4(FANCA):c.2779-8T>C
|
|
|
|
NM_000135.4(FANCA):c.2779-9C>T
|
rs764825402
|
|
|
NM_000135.4(FANCA):c.2783C>A (p.Thr928Asn)
|
rs2143261377
|
|
|
NM_000135.4(FANCA):c.2784T>G (p.Thr928=)
|
|
|
|
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His)
|
rs1567612427
|
|
|
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser)
|
rs2038969615
|
|
|
NM_000135.4(FANCA):c.2791G>C (p.Asp931His)
|
|
|
|
NM_000135.4(FANCA):c.2797T>C (p.Leu933=)
|
rs961319091
|
|
|
NM_000135.4(FANCA):c.279del (p.Phe93fs)
|
|
|
|
NM_000135.4(FANCA):c.27C>A (p.Ser9=)
|
|
|
|
NM_000135.4(FANCA):c.2803C>T (p.Leu935=)
|
rs1598096992
|
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
|
NM_000135.4(FANCA):c.2809C>G (p.Leu937Val)
|
|
|
|
NM_000135.4(FANCA):c.2809C>T (p.Leu937=)
|
rs773381553
|
|
|
NM_000135.4(FANCA):c.280A>G (p.Ile94Val)
|
|
|
|
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln)
|
rs376106733
|
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
|
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val)
|
rs1598096962
|
|
|
NM_000135.4(FANCA):c.2820A>C (p.Gln940His)
|
|
|
|
NM_000135.4(FANCA):c.2821C>A (p.Pro941Thr)
|
rs2038968162
|
|
|
NM_000135.4(FANCA):c.2822C>A (p.Pro941His)
|
|
|
|
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp)
|
rs1217883878
|
|
|
NM_000135.4(FANCA):c.2828C>T (p.Ala943Val)
|
|
|
|
NM_000135.4(FANCA):c.283+10A>C
|
|
|
|
NM_000135.4(FANCA):c.283+12C>A
|
|
|
|
NM_000135.4(FANCA):c.283+12C>G
|
rs2143710577
|
|
|
NM_000135.4(FANCA):c.283+15C>A
|
|
|
|
NM_000135.4(FANCA):c.283+15C>T
|
|
|
|
NM_000135.4(FANCA):c.283+16A>G
|
|
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
|
NM_000135.4(FANCA):c.283+1_283+11del
|
rs2143710613
|
|
|
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.283+5G>A
|
rs1598199184
|
|
|
NM_000135.4(FANCA):c.283+8A>G
|
|
|
|
NM_000135.4(FANCA):c.283+9T>A
|
rs779593295
|
|
|
NM_000135.4(FANCA):c.283+9T>G
|
rs779593295
|
|
|
NM_000135.4(FANCA):c.2830G>A (p.Asp944Asn)
|
|
|
|
NM_000135.4(FANCA):c.2830G>T (p.Asp944Tyr)
|
|
|
|
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
|
|
|
|
NM_000135.4(FANCA):c.2832dup (p.Ala945fs)
|
rs2143260759
|
|
|
NM_000135.4(FANCA):c.2834C>T (p.Ala945Val)
|
rs1221107443
|
|
|
NM_000135.4(FANCA):c.2836C>G (p.Leu946Val)
|
|
|
|
NM_000135.4(FANCA):c.2836C>T (p.Leu946Phe)
|
|
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
|
NM_000135.4(FANCA):c.284-10T>C
|
rs1318685482
|
|
|
NM_000135.4(FANCA):c.284-11T>C
|
|
|
|
NM_000135.4(FANCA):c.284-1328_705del
|
|
|
|
NM_000135.4(FANCA):c.284-13T>C
|
|
|
|
NM_000135.4(FANCA):c.284-14G>T
|
rs757531036
|
|
|
NM_000135.4(FANCA):c.284-15T>C
|
|
|
|
NM_000135.4(FANCA):c.284-19G>A
|
|
|
|
NM_000135.4(FANCA):c.284-19G>C
|
|
|
|
NM_000135.4(FANCA):c.284-1G>C
|
rs781216924
|
|
|
NM_000135.4(FANCA):c.284-20G>T
|
|
|
|
NM_000135.4(FANCA):c.284-2A>C
|
|
|
|
NM_000135.4(FANCA):c.284-7G>A
|
rs2143681344
|
|
|
NM_000135.4(FANCA):c.284-8T>C
|
rs2143681363
|
|
|
NM_000135.4(FANCA):c.284-940_339del
|
|
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
|
NM_000135.4(FANCA):c.2841A>T (p.Ser947=)
|
rs1555544202
|
|
|
NM_000135.4(FANCA):c.2843A>C (p.Asp948Ala)
|
|
|
|
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val)
|
rs193172749
|
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|
NM_000135.4(FANCA):c.2844T>C (p.Asp948=)
|
rs2143260585
|
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|
NM_000135.4(FANCA):c.2846C>T (p.Thr949Ile)
|
rs2038967398
|
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|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
|
NM_000135.4(FANCA):c.2852+10G>C
|
rs2143260317
|
|
|
NM_000135.4(FANCA):c.2852+17G>C
|
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|
NM_000135.4(FANCA):c.2852+18C>G
|
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|
|
NM_000135.4(FANCA):c.2852+1dup
|
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|
NM_000135.4(FANCA):c.2852+2T>G
|
rs766875860
|
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|
NM_000135.4(FANCA):c.2852+3A>G
|
rs2038966938
|
|
|
NM_000135.4(FANCA):c.2852+7G>A
|
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NM_000135.4(FANCA):c.2852+7_2852+8del
|
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|
NM_000135.4(FANCA):c.2853-10G>C
|
rs1432760258
|
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|
NM_000135.4(FANCA):c.2853-11T>C
|
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|
NM_000135.4(FANCA):c.2853-14G>A
|
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|
NM_000135.4(FANCA):c.2853-15T>C
|
rs1252724124
|
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|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
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|
NM_000135.4(FANCA):c.2853-16G>A
|
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|
NM_000135.4(FANCA):c.2853-4C>A
|
rs1289126600
|
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NM_000135.4(FANCA):c.2853-4C>T
|
rs1289126600
|
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NM_000135.4(FANCA):c.2853-7G>A
|
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|
NM_000135.4(FANCA):c.2853-9C>G
|
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NM_000135.4(FANCA):c.2855A>C (p.Gln952Pro)
|
rs2143225876
|
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NM_000135.4(FANCA):c.2858A>C (p.Asp953Ala)
|
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|
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
|
rs149112292
|
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|
NM_000135.4(FANCA):c.2859C>T (p.Asp953=)
|
rs149112292
|
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|
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
|
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NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu)
|
rs2038844439
|
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NM_000135.4(FANCA):c.2868G>A (p.Gln956=)
|
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|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
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|
NM_000135.4(FANCA):c.2874G>C (p.Ala958=)
|
|
|
|
NM_000135.4(FANCA):c.2877C>A (p.Ile959=)
|
rs369548782
|
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|
NM_000135.4(FANCA):c.2877C>G (p.Ile959Met)
|
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|
NM_000135.4(FANCA):c.2877C>T (p.Ile959=)
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|
NM_000135.4(FANCA):c.2878C>G (p.His960Asp)
|
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|
|
NM_000135.4(FANCA):c.2878C>T (p.His960Tyr)
|
rs923046981
|
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|
NM_000135.4(FANCA):c.2882A>C (p.Glu961Ala)
|
|
|
|
NM_000135.4(FANCA):c.2885A>T (p.His962Leu)
|
|
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|
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs)
|
|
|
|
NM_000135.4(FANCA):c.2886C>T (p.His962=)
|
rs1455455628
|
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|
NM_000135.4(FANCA):c.2889T>C (p.Phe963=)
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|
|
|
NM_000135.4(FANCA):c.2892C>A (p.Leu964=)
|
rs2143225154
|
|
|
NM_000135.4(FANCA):c.2892C>T (p.Leu964=)
|
rs2143225154
|
|
|
NM_000135.4(FANCA):c.2893C>G (p.Pro965Ala)
|
|
|
|
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
|
|
|
|
NM_000135.4(FANCA):c.2895T>C (p.Pro965=)
|
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|
|
NM_000135.4(FANCA):c.2896G>A (p.Glu966Lys)
|
rs1192724266
|
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|
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter)
|
rs1192724266
|
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NM_000135.4(FANCA):c.2901C>G (p.Ser967=)
|
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|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
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|
NM_000135.4(FANCA):c.2904G>C (p.Ser968=)
|
rs568354015
|
|
|
NM_000135.4(FANCA):c.2908T>C (p.Ser970Pro)
|
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|
NM_000135.4(FANCA):c.2912G>C (p.Gly971Ala)
|
|
|
|
NM_000135.4(FANCA):c.2914G>A (p.Gly972Ser)
|
rs764155334
|
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|
NM_000135.4(FANCA):c.2914G>T (p.Gly972Cys)
|
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|
NM_000135.4(FANCA):c.291_295del (p.Leu98fs)
|
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NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu)
|
rs756241886
|
|
|
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
|
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|
NM_000135.4(FANCA):c.2928C>T (p.Asp976=)
|
rs1389873954
|
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|
NM_000135.4(FANCA):c.2929C>T (p.Leu977=)
|
|
|
|
NM_000135.4(FANCA):c.2931G>A (p.Leu977=)
|
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|
NM_000135.4(FANCA):c.2931G>T (p.Leu977=)
|
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|
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
|
|
|
|
NM_000135.4(FANCA):c.2936C>G (p.Ala979Gly)
|
|
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|
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser)
|
rs1555542910
|
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|
NM_000135.4(FANCA):c.2945C>G (p.Thr982Ser)
|
rs772577909
|
|
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NM_000135.4(FANCA):c.2946C>A (p.Thr982=)
|
|
|
|
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
|
rs1598191053
|
|
|
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
|
|
|
|
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro)
|
rs752735858
|
|
|
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser)
|
rs752735858
|
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
|
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)
|
|
|
|
NM_000135.4(FANCA):c.2962C>T (p.Leu988=)
|
rs2143224238
|
|
|
NM_000135.4(FANCA):c.2964G>A (p.Leu988=)
|
rs751495133
|
|
|
NM_000135.4(FANCA):c.2970T>C (p.Asp990=)
|
rs2143224147
|
|
|
NM_000135.4(FANCA):c.2976C>G (p.His992Gln)
|
rs527882851
|
|
|
NM_000135.4(FANCA):c.2976C>T (p.His992=)
|
|
|
|
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
|
|
|
|
NM_000135.4(FANCA):c.2981+11C>T
|
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NM_000135.4(FANCA):c.2981+13C>T
|
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NM_000135.4(FANCA):c.2981+14A>G
|
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|
|
NM_000135.4(FANCA):c.2981+15C>G
|
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|
|
NM_000135.4(FANCA):c.2981+18T>C
|
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|
|
NM_000135.4(FANCA):c.2981+19A>G
|
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|
|
NM_000135.4(FANCA):c.2981+3T>A
|
|
|
|
NM_000135.4(FANCA):c.2981+3T>C
|
rs2038838887
|
|
|
NM_000135.4(FANCA):c.2981+8G>A
|
|
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NM_000135.4(FANCA):c.2981+8G>C
|
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|
NM_000135.4(FANCA):c.2981+8_2981+10del
|
|
|
|
NM_000135.4(FANCA):c.2981+9C>A
|
rs2143223878
|
|
|
NM_000135.4(FANCA):c.2981+9C>G
|
|
|
|
NM_000135.4(FANCA):c.2981+9C>T
|
|
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|
NM_000135.4(FANCA):c.2982-15G>T
|
rs55718325
|
|
|
NM_000135.4(FANCA):c.2982-192A>C
|
|
|
|
NM_000135.4(FANCA):c.2982-19T>C
|
|
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
|
NM_000135.4(FANCA):c.2982-8C>T
|
|
|
|
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
|
|
|
|
NM_000135.4(FANCA):c.2985A>G (p.Ser995=)
|
rs1598081370
|
|
|
NM_000135.4(FANCA):c.2985A>T (p.Ser995=)
|
rs1598081370
|
|
|
NM_000135.4(FANCA):c.298G>C (p.Asp100His)
|
|
|
|
NM_000135.4(FANCA):c.2991T>C (p.Ser997=)
|
|
|
|
NM_000135.4(FANCA):c.2995G>C (p.Asp999His)
|
rs1277218406
|
|
|
NM_000135.4(FANCA):c.2996A>G (p.Asp999Gly)
|
rs2143164062
|
|
|
NM_000135.4(FANCA):c.2997C>T (p.Asp999=)
|
rs1393198725
|
|
|
NM_000135.4(FANCA):c.2T>G (p.Met1Arg)
|
rs769479800
|
|
|
NM_000135.4(FANCA):c.3003A>T (p.Ser1001=)
|
rs2038619241
|
|
|
NM_000135.4(FANCA):c.3009T>C (p.Asn1003=)
|
rs1001303157
|
|
|
NM_000135.4(FANCA):c.3012T>A (p.Ser1004=)
|
|
|
|
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs)
|
rs2143163813
|
|
|
NM_000135.4(FANCA):c.3021C>A (p.Val1007=)
|
rs2143163779
|
|
|
NM_000135.4(FANCA):c.3021C>G (p.Val1007=)
|
|
|
|
NM_000135.4(FANCA):c.3026G>T (p.Gly1009Val)
|
|
|
|
NM_000135.4(FANCA):c.3027T>G (p.Gly1009=)
|
rs2143163711
|
|
|
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val)
|
rs767105291
|
|
|
NM_000135.4(FANCA):c.3036A>C (p.Thr1012=)
|
|
|
|
NM_000135.4(FANCA):c.3036A>G (p.Thr1012=)
|
rs2038617235
|
|
|
NM_000135.4(FANCA):c.3045G>C (p.Glu1015Asp)
|
rs147661788
|
|
|
NM_000135.4(FANCA):c.3046G>A (p.Asp1016Asn)
|
|
|
|
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
|
|
|
|
NM_000135.4(FANCA):c.3056C>A (p.Ser1019Tyr)
|
rs762111755
|
|
|
NM_000135.4(FANCA):c.3057C>A (p.Ser1019=)
|
|
|
|
NM_000135.4(FANCA):c.3057C>T (p.Ser1019=)
|
|
|
|
NM_000135.4(FANCA):c.3058A>C (p.Arg1020=)
|
|
|
|
NM_000135.4(FANCA):c.3059G>C (p.Arg1020Thr)
|
rs777061373
|
|
|
NM_000135.4(FANCA):c.3061T>C (p.Leu1021=)
|
rs2143163305
|
|
|
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp)
|
rs891626452
|
|
|
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)
|
rs2143163267
|
|
|
NM_000135.4(FANCA):c.3066+10A>T
|
rs2143163210
|
|
|
NM_000135.4(FANCA):c.3066+11G>A
|
|
|
|
NM_000135.4(FANCA):c.3066+12G>A
|
|
|
|
NM_000135.4(FANCA):c.3066+13_3066+75del
|
|
|
|
NM_000135.4(FANCA):c.3066+17C>T
|
|
|
|
NM_000135.4(FANCA):c.3066+19C>G
|
|
|
|
NM_000135.4(FANCA):c.3066+19C>T
|
|
|
|
NM_000135.4(FANCA):c.3066+1G>A
|
rs587783028
|
|
|
NM_000135.4(FANCA):c.3066+1G>C
|
|
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
|
NM_000135.4(FANCA):c.3066+3_3066+9delinsCC
|
rs2038616017
|
|
|
NM_000135.4(FANCA):c.3066G>C (p.Gln1022His)
|
|
|
|
NM_000135.4(FANCA):c.3067-10T>A
|
|
|
|
NM_000135.4(FANCA):c.3067-10T>C
|
rs1379021525
|
|
|
NM_000135.4(FANCA):c.3067-14C>G
|
rs1227291634
|
|
|
NM_000135.4(FANCA):c.3067-15A>G
|
|
|
|
NM_000135.4(FANCA):c.3067-17A>G
|
rs1598077091
|
|
|
NM_000135.4(FANCA):c.3067-20A>T
|
|
|
|
NM_000135.4(FANCA):c.3067-2A>G
|
rs2143140176
|
|
|
NM_000135.4(FANCA):c.3067-3C>T
|
|
|
|
NM_000135.4(FANCA):c.3067-8T>C
|
|
|
|
NM_000135.4(FANCA):c.3067-9C>G
|
rs1271317902
|
|
|
NM_000135.4(FANCA):c.3068A>G (p.Glu1023Gly)
|
|
|
|
NM_000135.4(FANCA):c.306C>G (p.Ala102=)
|
|
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
|
NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu)
|
|
|
|
NM_000135.4(FANCA):c.3075A>G (p.Val1025=)
|
rs780769017
|
|
|
NM_000135.4(FANCA):c.3075A>T (p.Val1025=)
|
rs780769017
|
|
|
NM_000135.4(FANCA):c.3081C>T (p.Asp1027=)
|
rs751033993
|
|
|
NM_000135.4(FANCA):c.3082C>T (p.Leu1028=)
|
rs1447648920
|
|
|
NM_000135.4(FANCA):c.3084G>A (p.Leu1028=)
|
rs2038521694
|
|
|
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.3096A>G (p.Gln1032=)
|
rs764351074
|
|
|
NM_000135.4(FANCA):c.3099C>T (p.Asp1033=)
|
rs139289675
|
|
|
NM_000135.4(FANCA):c.309A>C (p.Ser103=)
|
rs1284727333
|
|
|
NM_000135.4(FANCA):c.3100C>G (p.Leu1034Val)
|
|
|
|
NM_000135.4(FANCA):c.3102C>T (p.Leu1034=)
|
rs1216824664
|
|
|
NM_000135.4(FANCA):c.3109C>G (p.Pro1037Ala)
|
rs771174892
|
|
|
NM_000135.4(FANCA):c.310A>C (p.Arg104=)
|
rs2143680951
|
|
|
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs)
|
rs2143139284
|
|
|
NM_000135.4(FANCA):c.3116G>A (p.Gly1039Asp)
|
rs1292002479
|
|
|
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
|
|
|
|
NM_000135.4(FANCA):c.3117C>G (p.Gly1039=)
|
rs2143139529
|
|
|
NM_000135.4(FANCA):c.311G>A (p.Arg104Lys)
|
rs1057245679
|
|
|
NM_000135.4(FANCA):c.3120C>T (p.His1040=)
|
rs1567603921
|
|
|
NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser)
|
rs769635187
|
|
|
NM_000135.4(FANCA):c.3123C>G (p.Thr1041=)
|
rs978882053
|
|
|
NM_000135.4(FANCA):c.3123C>T (p.Thr1041=)
|
|
|
|
NM_000135.4(FANCA):c.3124C>T (p.Pro1042Ser)
|
rs1355177352
|
|
|
NM_000135.4(FANCA):c.3126T>A (p.Pro1042=)
|
|
|
|
NM_000135.4(FANCA):c.3126T>G (p.Pro1042=)
|
rs2038519967
|
|
|
NM_000135.4(FANCA):c.3128C>T (p.Ser1043Phe)
|
rs964766722
|
|
|
NM_000135.4(FANCA):c.3134A>C (p.Glu1045Ala)
|
rs2143139368
|
|
|
NM_000135.4(FANCA):c.3135G>A (p.Glu1045=)
|
|
|
|
NM_000135.4(FANCA):c.313C>T (p.Leu105=)
|
|
|
|
NM_000135.4(FANCA):c.3142C>G (p.Leu1048Val)
|
rs2143139226
|
|
|
NM_000135.4(FANCA):c.3144C>G (p.Leu1048=)
|
rs1302242291
|
|
|
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=)
|
rs1302242291
|
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
|
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala)
|
rs954683462
|
|
|
NM_000135.4(FANCA):c.3150G>A (p.Glu1050=)
|
rs2143139115
|
|
|
NM_000135.4(FANCA):c.3150G>C (p.Glu1050Asp)
|
rs2143139115
|
|
|
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
|
|
|
|
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs)
|
rs2143139061
|
|
|
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His)
|
rs371351450
|
|
|
NM_000135.4(FANCA):c.3160A>C (p.Arg1054=)
|
|
|
|
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs)
|
rs2143138748
|
|
|
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=)
|
rs753063086
|
|
|
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)
|
rs753063086
|
|
|
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.3168C>G (p.Leu1056=)
|
rs377633991
|
|
|
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter)
|
rs373545111
|
|
|
NM_000135.4(FANCA):c.3169del (p.Gln1057fs)
|
rs2143138814
|
|
|
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val)
|
rs964650941
|
|
|
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
|
|
|
|
NM_000135.4(FANCA):c.3177G>C (p.Leu1059=)
|
rs2143138665
|
|
|
NM_000135.4(FANCA):c.3177G>T (p.Leu1059=)
|
rs2143138665
|
|
|
NM_000135.4(FANCA):c.3180A>T (p.Thr1060=)
|
|
|
|
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg)
|
rs142379991
|
|
|
NM_000135.4(FANCA):c.3186G>T (p.Gly1062=)
|
rs2038517320
|
|
|
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
|
|
|
|
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
|
NM_000135.4(FANCA):c.3188G>C (p.Trp1063Ser)
|
rs1166286386
|
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
|
NM_000135.4(FANCA):c.3189G>T (p.Trp1063Cys)
|
|
|
|
NM_000135.4(FANCA):c.318G>A (p.Gly106=)
|
|
|
|
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu)
|
rs140124051
|
|
|
NM_000135.4(FANCA):c.3195G>A (p.Val1065=)
|
rs2143138336
|
|
|
NM_000135.4(FANCA):c.3195G>C (p.Val1065=)
|
|
|
|
NM_000135.4(FANCA):c.3197C>G (p.Ala1066Gly)
|
rs1419279017
|
|
|
NM_000135.4(FANCA):c.319del (p.Val107fs)
|
rs1411237340
|
|
|
NM_000135.4(FANCA):c.3201C>A (p.Ala1067=)
|
|
|
|
NM_000135.4(FANCA):c.3202A>G (p.Ser1068Gly)
|
|
|
|
NM_000135.4(FANCA):c.3204C>T (p.Ser1068=)
|
|
|
|
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)
|
rs756620986
|
|
|
NM_000135.4(FANCA):c.3207T>C (p.Leu1069=)
|
rs2143138181
|
|
|
NM_000135.4(FANCA):c.3211A>C (p.Arg1071=)
|
|
|
|
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs)
|
rs2143138138
|
|
|
NM_000135.4(FANCA):c.3216G>A (p.Gln1072=)
|
rs753298211
|
|
|
NM_000135.4(FANCA):c.3216G>C (p.Gln1072His)
|
rs753298211
|
|
|
NM_000135.4(FANCA):c.3218G>A (p.Arg1073Lys)
|
|
|
|
NM_000135.4(FANCA):c.3219G>A (p.Arg1073=)
|
rs755453758
|
|
|
NM_000135.4(FANCA):c.321T>C (p.Val107=)
|
rs2143680806
|
|
|
NM_000135.4(FANCA):c.3222G>A (p.Glu1074=)
|
rs575923160
|
|
|
NM_000135.4(FANCA):c.3225G>C (p.Leu1075=)
|
|
|
|
NM_000135.4(FANCA):c.3228A>G (p.Leu1076=)
|
rs765285538
|
|
|
NM_000135.4(FANCA):c.3230T>C (p.Met1077Thr)
|
rs776603588
|
|
|
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)
|
|
|
|
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)
|
rs764030196
|
|
|
NM_000135.4(FANCA):c.3238C>A (p.Arg1080=)
|
|
|
|
NM_000135.4(FANCA):c.3239+10A>G
|
|
|
|
NM_000135.4(FANCA):c.3239+11C>G
|
rs200232122
|
|
|
NM_000135.4(FANCA):c.3239+11C>T
|
|
|
|
NM_000135.4(FANCA):c.3239+12T>C
|
|
|
|
NM_000135.4(FANCA):c.3239+14C>T
|
|
|
|
NM_000135.4(FANCA):c.3239+15C>T
|
|
|
|
NM_000135.4(FANCA):c.3239+17C>A
|
|
|
|
NM_000135.4(FANCA):c.3239+18C>A
|
rs781742623
|
|
|
NM_000135.4(FANCA):c.3239+1G>A
|
rs2143137762
|
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
|
NM_000135.4(FANCA):c.3239+7C>G
|
rs775293779
|
|
|
NM_000135.4(FANCA):c.3239+8C>T
|
rs2038514547
|
|
|
NM_000135.4(FANCA):c.323C>T (p.Pro108Leu)
|
|
|
|
NM_000135.4(FANCA):c.3240-12C>G
|
|
|
|
NM_000135.4(FANCA):c.3240-12C>T
|
|
|
|
NM_000135.4(FANCA):c.3240-16A>G
|
|
|
|
NM_000135.4(FANCA):c.3240-17C>A
|
rs780439636
|
|
|
NM_000135.4(FANCA):c.3240-17C>T
|
rs780439636
|
|
|
NM_000135.4(FANCA):c.3240-18A>T
|
|
|
|
NM_000135.4(FANCA):c.3240-1G>A
|
rs2038478071
|
|
|
NM_000135.4(FANCA):c.3240-20A>G
|
|
|
|
NM_000135.4(FANCA):c.3240-3C>T
|
rs1315428324
|
|
|
NM_000135.4(FANCA):c.3240-8C>G
|
rs2143128494
|
|
|
NM_000135.4(FANCA):c.3240G>A (p.Arg1080=)
|
|
|
|
NM_000135.4(FANCA):c.3243C>A (p.Ile1081=)
|
rs2143128420
|
|
|
NM_000135.4(FANCA):c.3244C>T (p.Leu1082Phe)
|
rs2038477938
|
|
|
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs)
|
rs2143128346
|
|
|
NM_000135.4(FANCA):c.3246C>G (p.Leu1082=)
|
rs753864057
|
|
|
NM_000135.4(FANCA):c.3247C>T (p.Leu1083Phe)
|
rs2143128365
|
|
|
NM_000135.4(FANCA):c.324C>A (p.Pro108=)
|
|
|
|
NM_000135.4(FANCA):c.324C>G (p.Pro108=)
|
rs775822054
|
|
|
NM_000135.4(FANCA):c.3251G>T (p.Arg1084Leu)
|
rs752642945
|
|
|
NM_000135.4(FANCA):c.3252C>T (p.Arg1084=)
|
|
|
|
NM_000135.4(FANCA):c.3254T>G (p.Leu1085Arg)
|
|
|
|
NM_000135.4(FANCA):c.3255G>A (p.Leu1085=)
|
rs1485904394
|
|
|
NM_000135.4(FANCA):c.3255G>C (p.Leu1085=)
|
|
|
|
NM_000135.4(FANCA):c.3258T>C (p.Pro1086=)
|
|
|
|
NM_000135.4(FANCA):c.325G>A (p.Val109Met)
|
rs772639206
|
|
|
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
|
|
|
|
NM_000135.4(FANCA):c.3261G>C (p.Ser1087=)
|
|
|
|
NM_000135.4(FANCA):c.3264T>C (p.Ser1088=)
|
rs1167053992
|
|
|
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
|
rs1035003476
|
|
|
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)
|
rs536839082
|
|
|
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)
|
rs2038476999
|
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
|
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.3273C>T (p.Cys1091=)
|
rs1450151864
|
|
|
NM_000135.4(FANCA):c.3276C>T (p.Gly1092=)
|
|
|
|
NM_000135.4(FANCA):c.327G>C (p.Val109=)
|
|
|
|
NM_000135.4(FANCA):c.3281G>A (p.Ser1094Asn)
|
|
|
|
NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr)
|
rs946572285
|
|
|
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg)
|
rs761244757
|
|
|
NM_000135.4(FANCA):c.3282C>T (p.Ser1094=)
|
rs761244757
|
|
|
NM_000135.4(FANCA):c.3286C>G (p.Gln1096Glu)
|
|
|
|
NM_000135.4(FANCA):c.3287A>G (p.Gln1096Arg)
|
rs1598074664
|
|
|
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
|
rs1433848980
|
|
|
NM_000135.4(FANCA):c.3291A>G (p.Ala1097=)
|
rs2143127816
|
|
|
NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly)
|
|
|
|
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
|
|
|
|
NM_000135.4(FANCA):c.3297G>A (p.Gln1099=)
|
rs779268656
|
|
|
NM_000135.4(FANCA):c.3299C>A (p.Pro1100His)
|
|
|
|
NM_000135.4(FANCA):c.3301A>G (p.Ile1101Val)
|
rs2038475500
|
|
|
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
|
|
|
|
NM_000135.4(FANCA):c.3305C>T (p.Thr1102Ile)
|
rs771117949
|
|
|
NM_000135.4(FANCA):c.330T>C (p.Gly110=)
|
rs2143680634
|
|
|
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
|
|
|
|
NM_000135.4(FANCA):c.3311G>C (p.Arg1104Thr)
|
|
|
|
NM_000135.4(FANCA):c.3312A>G (p.Arg1104=)
|
rs1598074599
|
|
|
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
|
|
|
|
NM_000135.4(FANCA):c.3315C>T (p.Cys1105=)
|
rs749550737
|
|
|
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter)
|
rs777825824
|
|
|
NM_000135.4(FANCA):c.3318G>A (p.Glu1106=)
|
|
|
|
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
|
|
|
|
NM_000135.4(FANCA):c.3321G>T (p.Gln1107His)
|
rs1276452090
|
|
|
NM_000135.4(FANCA):c.3324C>T (p.Phe1108=)
|
rs2143127434
|
|
|
NM_000135.4(FANCA):c.3327C>T (p.Phe1109=)
|
|
|
|
NM_000135.4(FANCA):c.3328del (p.His1110fs)
|
|
|
|
NM_000135.4(FANCA):c.3330C>A (p.His1110Gln)
|
|
|
|
NM_000135.4(FANCA):c.3331T>G (p.Leu1111Val)
|
|
|
|
NM_000135.4(FANCA):c.3333G>A (p.Leu1111=)
|
|
|
|
NM_000135.4(FANCA):c.3336C>G (p.Val1112=)
|
rs1249462859
|
|
|
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys)
|
rs1236607168
|
|
|
NM_000135.4(FANCA):c.3342T>C (p.Ser1114=)
|
rs2143127277
|
|
|
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly)
|
rs1057520051
|
|
|
NM_000135.4(FANCA):c.3345G>A (p.Glu1115=)
|
|
|
|
NM_000135.4(FANCA):c.3348+11C>G
|
rs367624518
|
|
|
NM_000135.4(FANCA):c.3348+13T>C
|
|
|
|
NM_000135.4(FANCA):c.3348+15T>G
|
|
|
|
NM_000135.4(FANCA):c.3348+19C>G
|
|
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
|
NM_000135.4(FANCA):c.3348+20G>A
|
rs374602648
|
|
|
NM_000135.4(FANCA):c.3348+2T>G
|
|
|
|
NM_000135.4(FANCA):c.3348+4G>A
|
rs1217286568
|
|
|
NM_000135.4(FANCA):c.3348+7G>C
|
|
|
|
NM_000135.4(FANCA):c.3348+8C>G
|
rs571631071
|
|
|
NM_000135.4(FANCA):c.3348+8C>T
|
rs571631071
|
|
|
NM_000135.4(FANCA):c.3348+9C>T
|
rs2143127104
|
|
|
NM_000135.4(FANCA):c.3349-10T>C
|
|
|
|
NM_000135.4(FANCA):c.3349-11C>T
|
|
|
|
NM_000135.4(FANCA):c.3349-15T>C
|
|
|
|
NM_000135.4(FANCA):c.3349-18C>T
|
|
|
|
NM_000135.4(FANCA):c.3349-1G>C
|
|
|
|
NM_000135.4(FANCA):c.3349-2A>G
|
rs2038409874
|
|
|
NM_000135.4(FANCA):c.3349-5dup
|
|
|
|
NM_000135.4(FANCA):c.3349-6_3349-5del
|
rs2143109700
|
|
|
NM_000135.4(FANCA):c.3349-7T>C
|
|
|
|
NM_000135.4(FANCA):c.3349-8T>C
|
rs2143109726
|
|
|
NM_000135.4(FANCA):c.3349-9C>T
|
rs1463228706
|
|
|
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp)
|
rs371208490
|
|
|
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del)
|
rs1314042335
|
|
|
NM_000135.4(FANCA):c.3360C>T (p.Cys1120=)
|
rs2143109489
|
|
|
NM_000135.4(FANCA):c.3364C>T (p.His1122Tyr)
|
|
|
|
NM_000135.4(FANCA):c.336C>G (p.Leu112=)
|
rs774843944
|
|
|
NM_000135.4(FANCA):c.3372T>C (p.Gly1124=)
|
|
|
|
NM_000135.4(FANCA):c.3375C>G (p.Ala1125=)
|
|
|
|
NM_000135.4(FANCA):c.3376C>T (p.Leu1126=)
|
rs2143109313
|
|
|
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro)
|
rs2038408800
|
|
|
NM_000135.4(FANCA):c.3378G>A (p.Leu1126=)
|
|
|
|
NM_000135.4(FANCA):c.3378G>C (p.Leu1126=)
|
|
|
|
NM_000135.4(FANCA):c.3384G>A (p.Gln1128=)
|
rs867468844
|
|
|
NM_000135.4(FANCA):c.3387C>T (p.Asp1129=)
|
rs2143109171
|
|
|
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val)
|
rs2038408286
|
|
|
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met)
|
rs373168838
|
|
|
NM_000135.4(FANCA):c.3390C>T (p.Ile1130=)
|
rs373168838
|
|
|
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
|
|
|
|
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)
|
rs2143109078
|
|
|
NM_000135.4(FANCA):c.3393T>A (p.Thr1131=)
|
|
|
|
NM_000135.4(FANCA):c.3393T>G (p.Thr1131=)
|
rs2143109062
|
|
|
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
|
|
|
|
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val)
|
|
|
|
NM_000135.4(FANCA):c.3396C>A (p.Ala1132=)
|
|
|
|
NM_000135.4(FANCA):c.3396C>G (p.Ala1132=)
|
|
|
|
NM_000135.4(FANCA):c.3396C>T (p.Ala1132=)
|
|
|
|
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.3408+11C>T
|
|
|
|
NM_000135.4(FANCA):c.3408+18C>T
|
|
|
|
NM_000135.4(FANCA):c.3408+19C>T
|
|
|
|
NM_000135.4(FANCA):c.3408+1G>C
|
rs1567601557
|
|
|
NM_000135.4(FANCA):c.3408+6A>T
|
rs1269046351
|
|
|
NM_000135.4(FANCA):c.3408+7T>A
|
|
|
|
NM_000135.4(FANCA):c.3408+7T>C
|
|
|
|
NM_000135.4(FANCA):c.3408+8G>A
|
|
|
|
NM_000135.4(FANCA):c.3408+9C>A
|
|
|
|
NM_000135.4(FANCA):c.3408+9C>T
|
rs377702890
|
|
|
NM_000135.4(FANCA):c.3409-11C>T
|
|
|
|
NM_000135.4(FANCA):c.3409-14G>A
|
|
|
|
NM_000135.4(FANCA):c.3409-14G>T
|
|
|
|
NM_000135.4(FANCA):c.3409-15C>T
|
|
|
|
NM_000135.4(FANCA):c.3409-18C>T
|
rs762166434
|
|
|
NM_000135.4(FANCA):c.3409-19G>A
|
|
|
|
NM_000135.4(FANCA):c.3409-20T>C
|
|
|
|
NM_000135.4(FANCA):c.3409-22_3409-20del
|
|
|
|
NM_000135.4(FANCA):c.3409-2A>G
|
|
|
|
NM_000135.4(FANCA):c.3409-3C>T
|
|
|
|
NM_000135.4(FANCA):c.3409-5T>G
|
rs2038402047
|
|
|
NM_000135.4(FANCA):c.3409-6C>G
|
rs377428227
|
|
|
NM_000135.4(FANCA):c.3409-7C>T
|
|
|
|
NM_000135.4(FANCA):c.3409-8T>C
|
rs2038402291
|
|
|
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe)
|
rs138417003
|
|
|
NM_000135.4(FANCA):c.3414C>A (p.Leu1138=)
|
rs2143107000
|
|
|
NM_000135.4(FANCA):c.3414C>T (p.Leu1138=)
|
|
|
|
NM_000135.4(FANCA):c.3417G>A (p.Leu1139=)
|
rs1376693764
|
|
|
NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3419A>G (p.Asn1140Ser)
|
|
|
|
NM_000135.4(FANCA):c.3421G>A (p.Ala1141Thr)
|
|
|
|
NM_000135.4(FANCA):c.3421G>T (p.Ala1141Ser)
|
rs547984666
|
|
|
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)
|
rs587778318
|
|
|
NM_000135.4(FANCA):c.3425G>A (p.Cys1142Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3425G>C (p.Cys1142Ser)
|
|
|
|
NM_000135.4(FANCA):c.3428T>C (p.Leu1143Pro)
|
|
|
|
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg)
|
rs1188842855
|
|
|
NM_000135.4(FANCA):c.3429G>T (p.Leu1143=)
|
|
|
|
NM_000135.4(FANCA):c.342C>G (p.Ala114=)
|
rs777989691
|
|
|
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)
|
|
|
|
NM_000135.4(FANCA):c.3437G>A (p.Arg1146Lys)
|
|
|
|
NM_000135.4(FANCA):c.3439G>C (p.Asp1147His)
|
rs2038400529
|
|
|
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs)
|
rs2143106522
|
|
|
NM_000135.4(FANCA):c.3441C>T (p.Asp1147=)
|
rs2038400468
|
|
|
NM_000135.4(FANCA):c.3450G>C (p.Leu1150=)
|
rs1266179547
|
|
|
NM_000135.4(FANCA):c.3450G>T (p.Leu1150=)
|
|
|
|
NM_000135.4(FANCA):c.3456C>G (p.Val1152=)
|
rs530619438
|
|
|
NM_000135.4(FANCA):c.3456C>T (p.Val1152=)
|
|
|
|
NM_000135.4(FANCA):c.345G>A (p.Gly115=)
|
|
|
|
NM_000135.4(FANCA):c.3462C>G (p.Phe1154Leu)
|
|
|
|
NM_000135.4(FANCA):c.3466C>G (p.Leu1156Val)
|
|
|
|
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs)
|
rs2143106211
|
|
|
NM_000135.4(FANCA):c.3467T>A (p.Leu1156Gln)
|
rs1281597417
|
|
|
NM_000135.4(FANCA):c.3469G>T (p.Ala1157Ser)
|
rs1347794550
|
|
|
NM_000135.4(FANCA):c.346A>C (p.Met116Leu)
|
|
|
|
NM_000135.4(FANCA):c.3470C>T (p.Ala1157Val)
|
|
|
|
NM_000135.4(FANCA):c.3471C>G (p.Ala1157=)
|
rs2143106130
|
|
|
NM_000135.4(FANCA):c.3471C>T (p.Ala1157=)
|
|
|
|
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
|
|
|
|
NM_000135.4(FANCA):c.3477C>T (p.Cys1159=)
|
rs2143106071
|
|
|
NM_000135.4(FANCA):c.3480G>A (p.Gln1160=)
|
rs983310870
|
|
|
NM_000135.4(FANCA):c.3480G>C (p.Gln1160His)
|
rs983310870
|
|
|
NM_000135.4(FANCA):c.3481A>G (p.Thr1161Ala)
|
|
|
|
NM_000135.4(FANCA):c.3482C>A (p.Thr1161Lys)
|
rs142833057
|
|
|
NM_000135.4(FANCA):c.3486A>G (p.Lys1162=)
|
rs746491969
|
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
|
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)
|
rs2038399117
|
|
|
NM_000135.4(FANCA):c.3492C>G (p.Pro1164=)
|
|
|
|
NM_000135.4(FANCA):c.3493T>C (p.Leu1165=)
|
|
|
|
NM_000135.4(FANCA):c.3496A>G (p.Ile1166Val)
|
|
|
|
NM_000135.4(FANCA):c.3499T>C (p.Leu1167=)
|
rs2143105878
|
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
|
NM_000135.4(FANCA):c.3503C>T (p.Thr1168Ile)
|
|
|
|
NM_000135.4(FANCA):c.3504C>A (p.Thr1168=)
|
rs371464360
|
|
|
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=)
|
rs371464360
|
|
|
NM_000135.4(FANCA):c.3504C>T (p.Thr1168=)
|
rs371464360
|
|
|
NM_000135.4(FANCA):c.3507T>C (p.Ser1169=)
|
rs1211736375
|
|
|
NM_000135.4(FANCA):c.3508G>C (p.Ala1170Pro)
|
rs778280114
|
|
|
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro)
|
rs1598070682
|
|
|
NM_000135.4(FANCA):c.3513+10C>T
|
rs1431403785
|
|
|
NM_000135.4(FANCA):c.3513+12G>A
|
|
|
|
NM_000135.4(FANCA):c.3513+12G>T
|
|
|
|
NM_000135.4(FANCA):c.3513+14C>T
|
|
|
|
NM_000135.4(FANCA):c.3513+17G>A
|
|
|
|
NM_000135.4(FANCA):c.3513+17G>C
|
|
|
|
NM_000135.4(FANCA):c.3513+17_3513+19del
|
rs2038397381
|
|
|
NM_000135.4(FANCA):c.3513+1G>C
|
|
|
|
NM_000135.4(FANCA):c.3513+20T>C
|
|
|
|
NM_000135.4(FANCA):c.3513+20T>G
|
|
|
|
NM_000135.4(FANCA):c.3513+4G>C
|
rs878946193
|
|
|
NM_000135.4(FANCA):c.3513+8A>G
|
|
|
|
NM_000135.4(FANCA):c.3513+9G>C
|
rs1394337237
|
|
|
NM_000135.4(FANCA):c.3514-10C>G
|
rs561558430
|
|
|
NM_000135.4(FANCA):c.3514-10C>T
|
rs561558430
|
|
|
NM_000135.4(FANCA):c.3514-11T>C
|
|
|
|
NM_000135.4(FANCA):c.3514-11T>G
|
|
|
|
NM_000135.4(FANCA):c.3514-11TC[2]
|
rs1442804362
|
|
|
NM_000135.4(FANCA):c.3514-13G>C
|
|
|
|
NM_000135.4(FANCA):c.3514-14T>C
|
|
|
|
NM_000135.4(FANCA):c.3514-15G>A
|
|
|
|
NM_000135.4(FANCA):c.3514-16G>C
|
|
|
|
NM_000135.4(FANCA):c.3514-1G>T
|
rs2143088468
|
|
|
NM_000135.4(FANCA):c.3514-5C>A
|
rs2143088493
|
|
|
NM_000135.4(FANCA):c.3514-5C>T
|
|
|
|
NM_000135.4(FANCA):c.3514-6C>T
|
rs1018130831
|
|
|
NM_000135.4(FANCA):c.3514-7T>C
|
rs2143088550
|
|
|
NM_000135.4(FANCA):c.3514-8C>G
|
|
|
|
NM_000135.4(FANCA):c.3514-8C>T
|
rs2143088562
|
|
|
NM_000135.4(FANCA):c.3515T>C (p.Val1172Ala)
|
|
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
|
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
|
|
|
|
NM_000135.4(FANCA):c.3519G>C (p.Trp1173Cys)
|
|
|
|
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
|
rs1598067532
|
|
|
NM_000135.4(FANCA):c.3525G>C (p.Pro1175=)
|
rs765106818
|
|
|
NM_000135.4(FANCA):c.3527G>T (p.Ser1176Ile)
|
|
|
|
NM_000135.4(FANCA):c.3528C>T (p.Ser1176=)
|
|
|
|
NM_000135.4(FANCA):c.3529C>T (p.Leu1177=)
|
rs2038335485
|
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
|
NM_000135.4(FANCA):c.3534G>A (p.Glu1178=)
|
rs1598067510
|
|
|
NM_000135.4(FANCA):c.3536C>T (p.Pro1179Leu)
|
|
|
|
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu)
|
rs372706571
|
|
|
NM_000135.4(FANCA):c.3539T>A (p.Val1180Glu)
|
rs2143088182
|
|
|
NM_000135.4(FANCA):c.353C>G (p.Ala118Gly)
|
|
|
|
NM_000135.4(FANCA):c.3540G>A (p.Val1180=)
|
rs1423399664
|
|
|
NM_000135.4(FANCA):c.3540_3545del (p.Leu1181_Leu1182del)
|
|
|
|
NM_000135.4(FANCA):c.3541C>T (p.Leu1181=)
|
rs2143088159
|
|
|
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg)
|
rs1300778675
|
|
|
NM_000135.4(FANCA):c.3543G>A (p.Leu1181=)
|
|
|
|
NM_000135.4(FANCA):c.3543G>C (p.Leu1181=)
|
rs1336604242
|
|
|
NM_000135.4(FANCA):c.3543G>T (p.Leu1181=)
|
rs1336604242
|
|
|
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly)
|
rs763856094
|
|
|
NM_000135.4(FANCA):c.354C>T (p.Ala118=)
|
rs2143680281
|
|
|
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln)
|
rs147672303
|
|
|
NM_000135.4(FANCA):c.3552G>C (p.Arg1184=)
|
rs774029286
|
|
|
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.3560G>A (p.Arg1187Lys)
|
|
|
|
NM_000135.4(FANCA):c.3566G>T (p.Cys1189Phe)
|
|
|
|
NM_000135.4(FANCA):c.3567C>T (p.Cys1189=)
|
|
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
|
NM_000135.4(FANCA):c.3569A>G (p.Gln1190Arg)
|
rs1450954823
|
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
|
NM_000135.4(FANCA):c.3570G>C (p.Gln1190His)
|
rs1382222104
|
|
|
NM_000135.4(FANCA):c.3574C>T (p.Pro1192Ser)
|
rs2062210666
|
|
|
NM_000135.4(FANCA):c.3577C>T (p.Leu1193=)
|
rs2143087511
|
|
|
NM_000135.4(FANCA):c.357T>C (p.Ser119=)
|
rs2143680257
|
|
|
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser)
|
rs1415910337
|
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
|
NM_000135.4(FANCA):c.3582C>T (p.Pro1194=)
|
rs2143087454
|
|
|
NM_000135.4(FANCA):c.3583C>G (p.Arg1195Gly)
|
rs143642304
|
|
|
NM_000135.4(FANCA):c.3586G>C (p.Glu1196Gln)
|
rs1390620949
|
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
|
NM_000135.4(FANCA):c.3589C>T (p.Leu1197=)
|
rs2143087368
|
|
|
NM_000135.4(FANCA):c.3591G>C (p.Leu1197=)
|
rs55773634
|
|
|
NM_000135.4(FANCA):c.3591G>T (p.Leu1197=)
|
|
|
|
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=)
|
rs1240994313
|
|
|
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
|
|
|
|
NM_000135.4(FANCA):c.3600A>G (p.Leu1200=)
|
rs2143087262
|
|
|
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
|
|
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
|
NM_000135.4(FANCA):c.3603A>C (p.Gln1201His)
|
rs1157577447
|
|
|
NM_000135.4(FANCA):c.3605_3606delinsGC (p.Glu1202Gly)
|
rs2062210162
|
|
|
NM_000135.4(FANCA):c.360C>A (p.Ser120Arg)
|
rs968636087
|
|
|
NM_000135.4(FANCA):c.360C>T (p.Ser120=)
|
rs968636087
|
|
|
NM_000135.4(FANCA):c.3610C>A (p.Arg1204=)
|
|
|
|
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)
|
rs1313006784
|
|
|
NM_000135.4(FANCA):c.3620C>T (p.Ala1207Val)
|
|
|
|
NM_000135.4(FANCA):c.3621C>T (p.Ala1207=)
|
rs1269626015
|
|
|
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile)
|
rs1351484293
|
|
|
NM_000135.4(FANCA):c.3625G>A (p.Asp1209Asn)
|
|
|
|
NM_000135.4(FANCA):c.3626+13G>T
|
rs2143086671
|
|
|
NM_000135.4(FANCA):c.3626+18G>C
|
|
|
|
NM_000135.4(FANCA):c.3626+19A>C
|
|
|
|
NM_000135.4(FANCA):c.3626+1G>C
|
rs34885858
|
|
|
NM_000135.4(FANCA):c.3626+2T>G
|
|
|
|
NM_000135.4(FANCA):c.3626+5G>A
|
rs370801038
|
|
|
NM_000135.4(FANCA):c.3626+7G>T
|
|
|
|
NM_000135.4(FANCA):c.3627-11C>G
|
|
|
|
NM_000135.4(FANCA):c.3627-11C>T
|
|
|
|
NM_000135.4(FANCA):c.3627-13C>T
|
|
|
|
NM_000135.4(FANCA):c.3627-13CT[2]
|
|
|
|
NM_000135.4(FANCA):c.3627-14T>A
|
|
|
|
NM_000135.4(FANCA):c.3627-14dup
|
|
|
|
NM_000135.4(FANCA):c.3627-16_3627-11dup
|
|
|
|
NM_000135.4(FANCA):c.3627-18C>A
|
|
|
|
NM_000135.4(FANCA):c.3627-18C>G
|
|
|
|
NM_000135.4(FANCA):c.3627-1G>C
|
rs2062172440
|
|
|
NM_000135.4(FANCA):c.3627-20C>G
|
rs1567598547
|
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
|
NM_000135.4(FANCA):c.3627-4C>G
|
rs2062172483
|
|
|
NM_000135.4(FANCA):c.3627-5C>A
|
rs1417894512
|
|
|
NM_000135.4(FANCA):c.3627-7G>C
|
rs1161905441
|
|
|
NM_000135.4(FANCA):c.3627-9C>G
|
|
|
|
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
|
rs2062172394
|
|
|
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)
|
rs776001484
|
|
|
NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe)
|
|
|
|
NM_000135.4(FANCA):c.3633C>G (p.Leu1211=)
|
|
|
|
NM_000135.4(FANCA):c.3635C>A (p.Ser1212Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe)
|
rs1203053045
|
|
|
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.3639T>C (p.Pro1213=)
|
rs1567598479
|
|
|
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)
|
rs2062172051
|
|
|
NM_000135.4(FANCA):c.363G>C (p.Val121=)
|
|
|
|
NM_000135.4(FANCA):c.3641A>T (p.Glu1214Val)
|
|
|
|
NM_000135.4(FANCA):c.3646G>T (p.Ala1216Ser)
|
rs1262639465
|
|
|
NM_000135.4(FANCA):c.3648C>T (p.Ala1216=)
|
|
|
|
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys)
|
rs2062171853
|
|
|
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser)
|
rs1555535564
|
|
|
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
|
|
|
|
NM_000135.4(FANCA):c.3657A>T (p.Ala1219=)
|
rs2143062526
|
|
|
NM_000135.4(FANCA):c.3658C>G (p.Pro1220Ala)
|
|
|
|
NM_000135.4(FANCA):c.3659C>G (p.Pro1220Arg)
|
rs2062171639
|
|
|
NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile)
|
|
|
|
NM_000135.4(FANCA):c.3663C>T (p.Asn1221=)
|
rs781216012
|
|
|
NM_000135.4(FANCA):c.3664C>G (p.Pro1222Ala)
|
|
|
|
NM_000135.4(FANCA):c.3666G>T (p.Pro1222=)
|
rs780031277
|
|
|
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter)
|
rs2143062233
|
|
|
NM_000135.4(FANCA):c.3675C>T (p.Leu1225=)
|
|
|
|
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
|
|
|
|
NM_000135.4(FANCA):c.3679G>A (p.Ala1227Thr)
|
|
|
|
NM_000135.4(FANCA):c.367C>A (p.Gln123Lys)
|
rs985886242
|
|
|
NM_000135.4(FANCA):c.367C>G (p.Gln123Glu)
|
rs985886242
|
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
|
NM_000135.4(FANCA):c.3682G>A (p.Ala1228Thr)
|
rs2062171185
|
|
|
NM_000135.4(FANCA):c.3683C>G (p.Ala1228Gly)
|
|
|
|
NM_000135.4(FANCA):c.3685G>A (p.Ala1229Thr)
|
rs2143062040
|
|
|
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly)
|
rs1465548673
|
|
|
NM_000135.4(FANCA):c.368A>G (p.Gln123Arg)
|
|
|
|
NM_000135.4(FANCA):c.3691C>T (p.His1231Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3696T>C (p.Phe1232=)
|
rs563966600
|
|
|
NM_000135.4(FANCA):c.3696T>G (p.Phe1232Leu)
|
rs563966600
|
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
|
NM_000135.4(FANCA):c.3698C>G (p.Ala1233Gly)
|
rs545742908
|
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
|
NM_000135.4(FANCA):c.369G>A (p.Gln123=)
|
|
|
|
NM_000135.4(FANCA):c.36C>G (p.Gly12=)
|
rs751361669
|
|
|
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val)
|
rs1598063117
|
|
|
NM_000135.4(FANCA):c.3706C>G (p.Gln1236Glu)
|
|
|
|
NM_000135.4(FANCA):c.3708A>C (p.Gln1236His)
|
rs1192518263
|
|
|
NM_000135.4(FANCA):c.3715G>A (p.Glu1239Lys)
|
rs2143061441
|
|
|
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)
|
|
|
|
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln)
|
rs150719428
|
|
|
NM_000135.4(FANCA):c.371T>C (p.Ile124Thr)
|
|
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
|
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del)
|
rs1441710252
|
|
|
NM_000135.4(FANCA):c.3726C>A (p.Ile1242=)
|
rs972127356
|
|
|
NM_000135.4(FANCA):c.3726C>T (p.Ile1242=)
|
|
|
|
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=)
|
rs1051421921
|
|
|
NM_000135.4(FANCA):c.3729G>A (p.Arg1243=)
|
rs762929756
|
|
|
NM_000135.4(FANCA):c.372C>A (p.Ile124=)
|
rs765016775
|
|
|
NM_000135.4(FANCA):c.372C>G (p.Ile124Met)
|
rs765016775
|
|
|
NM_000135.4(FANCA):c.3732G>C (p.Lys1244Asn)
|
|
|
|
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
|
|
|
|
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs)
|
rs2143060935
|
|
|
NM_000135.4(FANCA):c.3742A>C (p.Lys1248Gln)
|
|
|
|
NM_000135.4(FANCA):c.374G>C (p.Cys125Ser)
|
rs761165542
|
|
|
NM_000135.4(FANCA):c.3753C>T (p.Cys1251=)
|
|
|
|
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)
|
|
|
|
NM_000135.4(FANCA):c.3756G>A (p.Glu1252=)
|
|
|
|
NM_000135.4(FANCA):c.3757A>G (p.Arg1253Gly)
|
rs2143060537
|
|
|
NM_000135.4(FANCA):c.375C>T (p.Cys125=)
|
rs199793463
|
|
|
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.3765+13del
|
|
|
|
NM_000135.4(FANCA):c.3765+14T>A
|
|
|
|
NM_000135.4(FANCA):c.3765+16C>G
|
|
|
|
NM_000135.4(FANCA):c.3765+16C>T
|
rs745639466
|
|
|
NM_000135.4(FANCA):c.3765+18T>G
|
|
|
|
NM_000135.4(FANCA):c.3765+19T>C
|
|
|
|
NM_000135.4(FANCA):c.3765+20T>C
|
|
|
|
NM_000135.4(FANCA):c.3765+2C>T
|
rs776827467
|
|
|
NM_000135.4(FANCA):c.3765+7T>C
|
|
|
|
NM_000135.4(FANCA):c.3765+8A>C
|
rs2143060169
|
|
|
NM_000135.4(FANCA):c.3766-1G>A
|
|
|
|
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
|
|
|
|
NM_000135.4(FANCA):c.3768A>C (p.Leu1256=)
|
|
|
|
NM_000135.4(FANCA):c.3768A>T (p.Leu1256=)
|
rs747616573
|
|
|
NM_000135.4(FANCA):c.376A>G (p.Thr126Ala)
|
|
|
|
NM_000135.4(FANCA):c.3771G>A (p.Leu1257=)
|
rs1402327994
|
|
|
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe)
|
rs1402327994
|
|
|
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del)
|
rs1157717956
|
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
|
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)
|
rs139160837
|
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
|
NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
|
|
|
|
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
|
|
|
|
NM_000135.4(FANCA):c.3783C>T (p.Phe1261=)
|
rs2062115689
|
|
|
NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
|
|
|
|
NM_000135.4(FANCA):c.3786C>T (p.Phe1262=)
|
|
|
|
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
|
|
|
|
NM_000135.4(FANCA):c.378G>A (p.Thr126=)
|
rs544680245
|
|
|
NM_000135.4(FANCA):c.378G>C (p.Thr126=)
|
rs544680245
|
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
|
NM_000135.4(FANCA):c.3792C>G (p.Ser1264=)
|
|
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
|
NM_000135.4(FANCA):c.3795G>A (p.Leu1265=)
|
rs1010989878
|
|
|
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
|
|
|
|
NM_000135.4(FANCA):c.3801C>G (p.Gly1267=)
|
rs143772894
|
|
|
NM_000135.4(FANCA):c.3804G>C (p.Leu1268=)
|
rs1449170388
|
|
|
NM_000135.4(FANCA):c.3807G>A (p.Leu1269=)
|
|
|
|
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter)
|
rs752800577
|
|
|
NM_000135.4(FANCA):c.380C>T (p.Ala127Val)
|
rs2143679916
|
|
|
NM_000135.4(FANCA):c.3810G>C (p.Ser1270=)
|
rs138144828
|
|
|
NM_000135.4(FANCA):c.3810G>T (p.Ser1270=)
|
rs138144828
|
|
|
NM_000135.4(FANCA):c.3813A>T (p.Ser1271=)
|
|
|
|
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr)
|
rs2062114648
|
|
|
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
|
|
|
|
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
|
|
|
|
NM_000135.4(FANCA):c.3819G>A (p.Leu1273=)
|
|
|
|
NM_000135.4(FANCA):c.381T>C (p.Ala127=)
|
rs771232511
|
|
|
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=)
|
rs1382340096
|
|
|
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
|
|
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
|
NM_000135.4(FANCA):c.3826A>G (p.Asn1276Asp)
|
rs2062114365
|
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
|
NM_000135.4(FANCA):c.3828T>C (p.Asn1276=)
|
|
|
|
NM_000135.4(FANCA):c.3829-71_3868del
|
|
|
|
NM_000135.4(FANCA):c.3834C>T (p.Thr1278=)
|
|
|
|
NM_000135.4(FANCA):c.3837A>G (p.Thr1279=)
|
rs2151714884
|
|
|
NM_000135.4(FANCA):c.3841C>T (p.Leu1281=)
|
rs2151714870
|
|
|
NM_000135.4(FANCA):c.3846A>C (p.Pro1282=)
|
rs2151714851
|
|
|
NM_000135.4(FANCA):c.3846A>G (p.Pro1282=)
|
rs2151714851
|
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp)
|
|
|
|
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu)
|
rs1470679036
|
|
|
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu)
|
|
|
|
NM_000135.4(FANCA):c.3855C>T (p.Phe1285=)
|
|
|
|
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln)
|
rs761705192
|
|
|
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr)
|
rs374945563
|
|
|
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe)
|
rs2062089641
|
|
|
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro)
|
rs2151714785
|
|
|
NM_000135.4(FANCA):c.3867A>T (p.Ala1289=)
|
|
|
|
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val)
|
|
|
|
NM_000135.4(FANCA):c.386C>A (p.Ala129Glu)
|
rs577625130
|
|
|
NM_000135.4(FANCA):c.386C>G (p.Ala129Gly)
|
|
|
|
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val)
|
rs547572315
|
|
|
NM_000135.4(FANCA):c.3873C>A (p.Ile1291=)
|
rs2062089414
|
|
|
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys)
|
|
|
|
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys)
|
rs1015729981
|
|
|
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
|
rs2062089336
|
|
|
NM_000135.4(FANCA):c.387G>T (p.Ala129=)
|
|
|
|
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.3888G>A (p.Glu1296=)
|
rs1204611147
|
|
|
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu)
|
|
|
|
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del)
|
|
|
|
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn)
|
|
|
|
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val)
|
rs1232415717
|
|
|
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg)
|
rs1264855885
|
|
|
NM_000135.4(FANCA):c.3900A>C (p.Ile1300=)
|
rs2151714696
|
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
|
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs)
|
rs2151714692
|
|
|
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)
|
rs878853665
|
|
|
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
|
|
|
|
NM_000135.4(FANCA):c.3907C>T (p.Leu1303=)
|
rs2151714673
|
|
|
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro)
|
rs1598055304
|
|
|
NM_000135.4(FANCA):c.3909G>A (p.Leu1303=)
|
|
|
|
NM_000135.4(FANCA):c.390G>T (p.Glu130Asp)
|
|
|
|
NM_000135.4(FANCA):c.3910del (p.Ala1304fs)
|
rs2151714666
|
|
|
NM_000135.4(FANCA):c.3912A>T (p.Ala1304=)
|
rs545021222
|
|
|
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)
|
rs748453841
|
|
|
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
|
|
|
|
NM_000135.4(FANCA):c.3918T>C (p.Phe1306=)
|
rs2151714638
|
|
|
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
|
rs1281446470
|
|
|
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
|
|
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
|
NM_000135.4(FANCA):c.3920del (p.Gln1307fs)
|
rs1228394297
|
|
|
NM_000135.4(FANCA):c.3922T>C (p.Leu1308=)
|
|
|
|
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe)
|
rs775127240
|
|
|
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs)
|
rs2151714603
|
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
|
|
NM_000135.4(FANCA):c.3930G>A (p.Glu1310=)
|
rs2151714594
|
|
|
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp)
|
rs2151714594
|
|
|
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)
|
rs1403231932
|
|
|
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn)
|
rs2062087829
|
|
|
NM_000135.4(FANCA):c.3934+1G>A
|
rs2062087795
|
|
|
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.3936C>T (p.Asp1312=)
|
|
|
|
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe)
|
rs551306400
|
|
|
NM_000135.4(FANCA):c.3939C>T (p.Leu1313=)
|
|
|
|
NM_000135.4(FANCA):c.393C>A (p.Thr131=)
|
rs1217316233
|
|
|
NM_000135.4(FANCA):c.3940A>C (p.Arg1314=)
|
|
|
|
NM_000135.4(FANCA):c.3945G>A (p.Leu1315=)
|
rs941282193
|
|
|
NM_000135.4(FANCA):c.3945G>C (p.Leu1315=)
|
rs941282193
|
|
|
NM_000135.4(FANCA):c.3948G>A (p.Gly1316=)
|
|
|
|
NM_000135.4(FANCA):c.394A>T (p.Ser132Cys)
|
|
|
|
NM_000135.4(FANCA):c.3951G>A (p.Arg1317=)
|
rs1439529670
|
|
|
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val)
|
rs2151712993
|
|
|
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)
|
rs927201841
|
|
|
NM_000135.4(FANCA):c.3954C>T (p.Leu1318=)
|
rs187297609
|
|
|
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
|
|
|
|
NM_000135.4(FANCA):c.3957C>T (p.Leu1319=)
|
|
|
|
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser)
|
rs755375493
|
|
|
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
|
rs755375493
|
|
|
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro)
|
rs374649848
|
|
|
NM_000135.4(FANCA):c.3966G>A (p.Val1322=)
|
|
|
|
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg)
|
rs1272640964
|
|
|
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser)
|
rs2151712907
|
|
|
NM_000135.4(FANCA):c.3972G>A (p.Pro1324=)
|
|
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
|
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu)
|
rs962823945
|
|
|
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
|
|
|
|
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
|
|
|
|
NM_000135.4(FANCA):c.397C>T (p.His133Tyr)
|
|
|
|
NM_000135.4(FANCA):c.3981_3982inv (p.Thr1328Ala)
|
|
|
|
NM_000135.4(FANCA):c.3984C>A (p.Thr1328=)
|
rs917010763
|
|
|
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
|
|
|
|
NM_000135.4(FANCA):c.3990G>C (p.Leu1330=)
|
|
|
|
NM_000135.4(FANCA):c.3996T>A (p.Pro1332=)
|
|
|
|
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
|
|
|
|
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu)
|
rs774576283
|
|
|
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
|
|
|
|
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
|
NM_000135.4(FANCA):c.4008C>T (p.Tyr1336=)
|
rs1278514199
|
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
|
NM_000135.4(FANCA):c.4011-1G>A
|
rs761988162
|
|
|
NM_000135.4(FANCA):c.4011-1G>C
|
rs761988162
|
|
|
NM_000135.4(FANCA):c.4014T>C (p.Leu1338=)
|
rs2151712093
|
|
|
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
|
|
|
|
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)
|
rs773113065
|
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
|
NM_000135.4(FANCA):c.4020C>T (p.Ser1340=)
|
|
|
|
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
|
|
|
|
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser)
|
rs768733593
|
|
|
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
|
|
|
|
NM_000135.4(FANCA):c.4023C>T (p.Tyr1341=)
|
|
|
|
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
|
|
|
|
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
|
|
|
|
NM_000135.4(FANCA):c.4026C>T (p.Phe1342=)
|
rs775186188
|
|
|
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln)
|
rs745577614
|
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
|
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His)
|
|
|
|
NM_000135.4(FANCA):c.4038G>T (p.Ala1346=)
|
rs755479861
|
|
|
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr)
|
rs751928369
|
|
|
NM_000135.4(FANCA):c.4041C>A (p.Ala1347=)
|
|
|
|
NM_000135.4(FANCA):c.4041C>T (p.Ala1347=)
|
rs2062058480
|
|
|
NM_000135.4(FANCA):c.4045A>C (p.Arg1349=)
|
|
|
|
NM_000135.4(FANCA):c.4053G>A (p.Glu1351=)
|
rs1477796994
|
|
|
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
|
rs1477796994
|
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
|
NM_000135.4(FANCA):c.405G>A (p.Val135=)
|
rs1598190634
|
|
|
NM_000135.4(FANCA):c.4060C>T (p.Leu1354=)
|
rs2151711931
|
|
|
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
|
|
|
|
NM_000135.4(FANCA):c.4062G>A (p.Leu1354=)
|
|
|
|
NM_000135.4(FANCA):c.4062G>T (p.Leu1354=)
|
|
|
|
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
|
|
|
|
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
|
|
|
|
NM_000135.4(FANCA):c.4068T>C (p.Val1356=)
|
|
|
|
NM_000135.4(FANCA):c.406C>T (p.Leu136=)
|
rs2040854292
|
|
|
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
|
|
|
|
NM_000135.4(FANCA):c.4071T>G (p.Ala1357=)
|
rs764090579
|
|
|
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His)
|
rs1555533313
|
|
|
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
|
|
|
|
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val)
|
rs775351812
|
|
|
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg)
|
rs773947543
|
|
|
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu)
|
rs529210242
|
|
|
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
|
rs1336834251
|
|
|
NM_000135.4(FANCA):c.4098G>A (p.Gln1366=)
|
|
|
|
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
|
|
|
|
NM_000135.4(FANCA):c.4101C>T (p.Leu1367=)
|
|
|
|
NM_000135.4(FANCA):c.4104C>T (p.Phe1368=)
|
rs375237681
|
|
|
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met)
|
rs201225325
|
|
|
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu)
|
rs201225325
|
|
|
NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
|
|
|
|
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
|
|
|
|
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
|
|
|
|
NM_000135.4(FANCA):c.4116T>C (p.Asp1372=)
|
|
|
|
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs)
|
rs1567592815
|
|
|
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg)
|
rs1277481284
|
|
|
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile)
|
rs2062055389
|
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
|
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
|
|
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
|
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)
|
rs199599393
|
|
|
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser)
|
rs2062055110
|
|
|
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
|
|
|
|
NM_000135.4(FANCA):c.4137A>G (p.Pro1379=)
|
rs1172262659
|
|
|
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr)
|
rs775234845
|
|
|
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro)
|
rs775234845
|
|
|
NM_000135.4(FANCA):c.4144A>C (p.Arg1382=)
|
|
|
|
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr)
|
rs367970303
|
|
|
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly)
|
rs2062054242
|
|
|
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)
|
|
|
|
NM_000135.4(FANCA):c.4149C>T (p.Ser1383=)
|
rs2151711619
|
|
|
NM_000135.4(FANCA):c.414T>C (p.Thr138=)
|
|
|
|
NM_000135.4(FANCA):c.4152G>A (p.Leu1384=)
|
rs2062054135
|
|
|
NM_000135.4(FANCA):c.4155G>A (p.Glu1385=)
|
rs770551622
|
|
|
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp)
|
rs770551622
|
|
|
NM_000135.4(FANCA):c.4158C>G (p.Leu1386=)
|
rs1366841040
|
|
|
NM_000135.4(FANCA):c.415G>A (p.Val139Met)
|
|
|
|
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His)
|
rs1598051449
|
|
|
NM_000135.4(FANCA):c.4168-1G>A
|
|
|
|
NM_000135.4(FANCA):c.4168-2A>G
|
rs1220672299
|
|
|
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val)
|
rs2062046761
|
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
|
NM_000135.4(FANCA):c.4173C>T (p.Asn1391=)
|
|
|
|
NM_000135.4(FANCA):c.4176C>G (p.Pro1392=)
|
rs776860862
|
|
|
NM_000135.4(FANCA):c.4176C>T (p.Pro1392=)
|
rs776860862
|
|
|
NM_000135.4(FANCA):c.417G>C (p.Val139=)
|
rs2143679237
|
|
|
NM_000135.4(FANCA):c.4182A>G (p.Glu1394=)
|
|
|
|
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs)
|
rs2062046121
|
|
|
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu)
|
rs1376923890
|
|
|
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys)
|
|
|
|
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr)
|
|
|
|
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
|
rs2040853528
|
|
|
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys)
|
|
|
|
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
|
|
|
|
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr)
|
rs749574677
|
|
|
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val)
|
rs1457671800
|
|
|
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
|
rs149851163
|
|
|
NM_000135.4(FANCA):c.4200T>A (p.Arg1400=)
|
|
|
|
NM_000135.4(FANCA):c.4200T>C (p.Arg1400=)
|
rs2151710848
|
|
|
NM_000135.4(FANCA):c.4209G>A (p.Leu1403=)
|
|
|
|
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)
|
rs2151710810
|
|
|
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln)
|
rs201494304
|
|
|
NM_000135.4(FANCA):c.4236A>G (p.Lys1412=)
|
|
|
|
NM_000135.4(FANCA):c.4239G>A (p.Lys1413=)
|
|
|
|
NM_000135.4(FANCA):c.423G>A (p.Gln141=)
|
rs1598190596
|
|
|
NM_000135.4(FANCA):c.423_426+14del
|
rs2143678941
|
|
|
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)
|
rs2062043035
|
|
|
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr)
|
rs772122405
|
|
|
NM_000135.4(FANCA):c.4242C>T (p.Ser1414=)
|
rs745958661
|
|
|
NM_000135.4(FANCA):c.4245C>T (p.Phe1415=)
|
|
|
|
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.4253T>C (p.Val1418Ala)
|
|
|
|
NM_000135.4(FANCA):c.4255del (p.Ala1419fs)
|
rs2151710687
|
|
|
NM_000135.4(FANCA):c.425G>C (p.Arg142Thr)
|
|
|
|
NM_000135.4(FANCA):c.426+11A>G
|
|
|
|
NM_000135.4(FANCA):c.426+13C>G
|
|
|
|
NM_000135.4(FANCA):c.426+16A>G
|
rs1598190483
|
|
|
NM_000135.4(FANCA):c.426+17G>A
|
|
|
|
NM_000135.4(FANCA):c.426+18A>T
|
|
|
|
NM_000135.4(FANCA):c.426+1G>A
|
rs1343463467
|
|
|
NM_000135.4(FANCA):c.426+2T>A
|
rs1598190568
|
|
|
NM_000135.4(FANCA):c.426+2T>C
|
|
|
|
NM_000135.4(FANCA):c.426+2T>G
|
rs1598190568
|
|
|
NM_000135.4(FANCA):c.426+3A>G
|
|
|
|
NM_000135.4(FANCA):c.426+4A>G
|
|
|
|
NM_000135.4(FANCA):c.426+8A>C
|
|
|
|
NM_000135.4(FANCA):c.426+8A>G
|
|
|
|
NM_000135.4(FANCA):c.426+9C>A
|
|
|
|
NM_000135.4(FANCA):c.426+9C>G
|
rs1161434880
|
|
|
NM_000135.4(FANCA):c.4260+1G>A
|
rs1060501887
|
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
|
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp)
|
rs2151710661
|
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
|
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met)
|
|
|
|
NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val)
|
|
|
|
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)
|
rs2062027006
|
|
|
NM_000135.4(FANCA):c.4269T>C (p.Ala1423=)
|
rs764113707
|
|
|
NM_000135.4(FANCA):c.427-10C>G
|
rs766856688
|
|
|
NM_000135.4(FANCA):c.427-12C>G
|
|
|
|
NM_000135.4(FANCA):c.427-12C>T
|
|
|
|
NM_000135.4(FANCA):c.427-12CT[2]
|
rs2143678081
|
|
|
NM_000135.4(FANCA):c.427-17G>A
|
|
|
|
NM_000135.4(FANCA):c.427-19dup
|
|
|
|
NM_000135.4(FANCA):c.427-20A>C
|
|
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
|
NM_000135.4(FANCA):c.427-8C>G
|
rs750757532
|
|
|
NM_000135.4(FANCA):c.427-8C>T
|
rs750757532
|
|
|
NM_000135.4(FANCA):c.427-9T>C
|
rs1598190255
|
|
|
NM_000135.4(FANCA):c.4272T>C (p.Asp1424=)
|
rs2151709956
|
|
|
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly)
|
rs587778321
|
|
|
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro)
|
rs147406377
|
|
|
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
|
rs1598048941
|
|
|
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
|
|
|
|
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val)
|
rs1350768758
|
|
|
NM_000135.4(FANCA):c.4278G>A (p.Gly1426=)
|
rs2151709922
|
|
|
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
|
|
|
|
NM_000135.4(FANCA):c.427A>C (p.Lys143Gln)
|
|
|
|
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)
|
rs539460201
|
|
|
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp)
|
rs2040847073
|
|
|
NM_000135.4(FANCA):c.4281C>T (p.Asp1427=)
|
rs1598048898
|
|
|
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
|
|
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
|
NM_000135.4(FANCA):c.4285G>C (p.Asp1429His)
|
rs748856769
|
|
|
NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)
|
|
|
|
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
|
|
|
|
NM_000135.4(FANCA):c.4287C>T (p.Asp1429=)
|
rs2151709886
|
|
|
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala)
|
|
|
|
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys)
|
rs1567591125
|
|
|
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln)
|
rs1567591125
|
|
|
NM_000135.4(FANCA):c.4293G>A (p.Glu1431=)
|
|
|
|
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp)
|
rs1235881790
|
|
|
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met)
|
|
|
|
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly)
|
|
|
|
NM_000135.4(FANCA):c.4296G>A (p.Val1432=)
|
rs2151709848
|
|
|
NM_000135.4(FANCA):c.4296G>T (p.Val1432=)
|
|
|
|
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg)
|
rs568293451
|
|
|
NM_000135.4(FANCA):c.42C>G (p.Asp14Glu)
|
rs750021837
|
|
|
NM_000135.4(FANCA):c.42C>T (p.Asp14=)
|
|
|
|
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
|
|
|
|
NM_000135.4(FANCA):c.4308C>T (p.Leu1436=)
|
rs199937973
|
|
|
NM_000135.4(FANCA):c.4311G>A (p.Gln1437=)
|
|
|
|
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
|
|
|
|
NM_000135.4(FANCA):c.4314C>T (p.Ser1438=)
|
|
|
|
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)
|
rs587778322
|
|
|
NM_000135.4(FANCA):c.4317A>G (p.Arg1439=)
|
|
|
|
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)
|
rs767234774
|
|
|
NM_000135.4(FANCA):c.4319del (p.Gln1440fs)
|
rs2151709763
|
|
|
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)
|
|
|
|
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=)
|
rs1555532716
|
|
|
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
|
|
|
|
NM_000135.4(FANCA):c.432G>A (p.Lys144=)
|
|
|
|
NM_000135.4(FANCA):c.432G>C (p.Lys144Asn)
|
|
|
|
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)
|
|
|
|
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn)
|
rs769025633
|
|
|
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)
|
|
|
|
NM_000135.4(FANCA):c.4335C>T (p.Asp1445=)
|
rs374830555
|
|
|
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
|
|
|
|
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
|
|
|
|
NM_000135.4(FANCA):c.433C>T (p.Leu145=)
|
rs2143677903
|
|
|
NM_000135.4(FANCA):c.4341C>T (p.Asp1447=)
|
|
|
|
NM_000135.4(FANCA):c.4342C>T (p.Leu1448=)
|
|
|
|
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg)
|
rs1223154937
|
|
|
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)
|
|
|
|
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys)
|
rs779236651
|
|
|
NM_000135.4(FANCA):c.4347C>A (p.Ser1449=)
|
rs2151709677
|
|
|
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg)
|
rs757549007
|
|
|
NM_000135.4(FANCA):c.4350G>A (p.Gln1450=)
|
rs749315540
|
|
|
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln)
|
rs1043241541
|
|
|
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser)
|
rs1489574740
|
|
|
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)
|
|
|
|
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr)
|
rs1338647532
|
|
|
NM_000135.4(FANCA):c.4358del (p.His1453fs)
|
rs2151709638
|
|
|
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro)
|
rs2151709628
|
|
|
NM_000135.4(FANCA):c.4362C>T (p.Leu1454=)
|
rs2151709620
|
|
|
NM_000135.4(FANCA):c.442C>T (p.Leu148=)
|
rs2040846687
|
|
|
NM_000135.4(FANCA):c.443del (p.Leu148fs)
|
|
|
|
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
|
rs2040846500
|
|
|
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)
|
|
|
|
NM_000135.4(FANCA):c.44_69del (p.Pro15fs)
|
rs2041137887
|
|
|
NM_000135.4(FANCA):c.453T>G (p.Phe151Leu)
|
rs2143677733
|
|
|
NM_000135.4(FANCA):c.456T>A (p.Ala152=)
|
|
|
|
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter)
|
rs774448881
|
|
|
NM_000135.4(FANCA):c.459G>A (p.Gln153=)
|
rs2040846276
|
|
|
NM_000135.4(FANCA):c.45A>G (p.Pro15=)
|
|
|
|
NM_000135.4(FANCA):c.462T>C (p.Tyr154=)
|
rs1598190143
|
|
|
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
|
|
|
|
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)
|
|
|
|
NM_000135.4(FANCA):c.471A>G (p.Ala157=)
|
rs2143677575
|
|
|
NM_000135.4(FANCA):c.474C>T (p.His158=)
|
|
|
|
NM_000135.4(FANCA):c.48G>A (p.Gly16=)
|
rs2143731322
|
|
|
NM_000135.4(FANCA):c.493T>A (p.Ser165Thr)
|
rs113468465
|
|
|
NM_000135.4(FANCA):c.494C>G (p.Ser165Cys)
|
rs141918444
|
|
|
NM_000135.4(FANCA):c.495C>A (p.Ser165=)
|
|
|
|
NM_000135.4(FANCA):c.495C>G (p.Ser165=)
|
|
|
|
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)
|
|
|
|
NM_000135.4(FANCA):c.4T>G (p.Ser2Ala)
|
rs2041144813
|
|
|
NM_000135.4(FANCA):c.500G>A (p.Cys167Tyr)
|
rs1257428184
|
|
|
NM_000135.4(FANCA):c.504A>G (p.Gln168=)
|
|
|
|
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys)
|
rs372691338
|
|
|
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
|
|
|
|
NM_000135.4(FANCA):c.506A>T (p.Glu169Val)
|
rs1403377153
|
|
|
NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)
|
|
|
|
NM_000135.4(FANCA):c.50G>C (p.Gly17Ala)
|
rs1326963514
|
|
|
NM_000135.4(FANCA):c.50del (p.Gly17fs)
|
rs748624754
|
|
|
NM_000135.4(FANCA):c.511T>C (p.Trp171Arg)
|
|
|
|
NM_000135.4(FANCA):c.512G>T (p.Trp171Leu)
|
rs2143677109
|
|
|
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg)
|
rs2040844359
|
|
|
NM_000135.4(FANCA):c.516A>G (p.Lys172=)
|
|
|
|
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys)
|
rs1454055874
|
|
|
NM_000135.4(FANCA):c.522+10A>C
|
rs2143676941
|
|
|
NM_000135.4(FANCA):c.522+11G>A
|
|
|
|
NM_000135.4(FANCA):c.522+13T>C
|
rs2143676888
|
|
|
NM_000135.4(FANCA):c.522+17A>C
|
|
|
|
NM_000135.4(FANCA):c.522+17_522+20del
|
|
|
|
NM_000135.4(FANCA):c.522+19del
|
|
|
|
NM_000135.4(FANCA):c.522+2T>C
|
rs2143677013
|
|
|
NM_000135.4(FANCA):c.522+6dup
|
rs2143676990
|
|
|
NM_000135.4(FANCA):c.522+8T>G
|
rs764367299
|
|
|
NM_000135.4(FANCA):c.523-10T>C
|
rs776200171
|
|
|
NM_000135.4(FANCA):c.523-11T>G
|
|
|
|
NM_000135.4(FANCA):c.523-14G>C
|
rs2040744991
|
|
|
NM_000135.4(FANCA):c.523-15T>C
|
|
|
|
NM_000135.4(FANCA):c.523-18T>G
|
|
|
|
NM_000135.4(FANCA):c.523-19GTTTT[2]
|
rs755643283
|
|
|
NM_000135.4(FANCA):c.523-19_523-16del
|
rs748945841
|
|
|
NM_000135.4(FANCA):c.523-19_523-17del
|
|
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
|
NM_000135.4(FANCA):c.523-20del
|
|
|
|
NM_000135.4(FANCA):c.523-20dup
|
rs775750910
|
|
|
NM_000135.4(FANCA):c.523-24_523-10dup
|
|
|
|
NM_000135.4(FANCA):c.523-2A>G
|
rs746518509
|
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[2]
|
rs530849202
|
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[4]
|
|
|
|
NM_000135.4(FANCA):c.523-4dup
|
|
|
|
NM_000135.4(FANCA):c.523-5_523-4dup
|
rs2143657729
|
|
|
NM_000135.4(FANCA):c.523-7T>C
|
|
|
|
NM_000135.4(FANCA):c.523-8T>C
|
rs2143657783
|
|
|
NM_000135.4(FANCA):c.523-9G>C
|
rs2143657796
|
|
|
NM_000135.4(FANCA):c.523-9_523-6del
|
rs2143657759
|
|
|
NM_000135.4(FANCA):c.523-9_523-7del
|
rs777446762
|
|
|
NM_000135.4(FANCA):c.525T>C (p.Ser175=)
|
rs2143657669
|
|
|
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys)
|
rs35566151
|
|
|
NM_000135.4(FANCA):c.528T>C (p.Ser176=)
|
rs902257190
|
|
|
NM_000135.4(FANCA):c.529T>G (p.Leu177Val)
|
rs2040743961
|
|
|
NM_000135.4(FANCA):c.534G>A (p.Leu178=)
|
|
|
|
NM_000135.4(FANCA):c.53G>A (p.Arg18His)
|
|
|
|
NM_000135.4(FANCA):c.541G>A (p.Ala181Thr)
|
rs2143657513
|
|
|
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val)
|
rs1598184528
|
|
|
NM_000135.4(FANCA):c.542dup (p.Val182fs)
|
|
|
|
NM_000135.4(FANCA):c.543G>T (p.Ala181=)
|
rs143314367
|
|
|
NM_000135.4(FANCA):c.544G>A (p.Val182Met)
|
|
|
|
NM_000135.4(FANCA):c.545T>C (p.Val182Ala)
|
rs2040743042
|
|
|
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
|
rs1598184500
|
|
|
NM_000135.4(FANCA):c.54C>T (p.Arg18=)
|
rs1380627104
|
|
|
NM_000135.4(FANCA):c.552T>C (p.His184=)
|
rs2143657286
|
|
|
NM_000135.4(FANCA):c.553C>G (p.Leu185Val)
|
rs587778323
|
|
|
NM_000135.4(FANCA):c.555del (p.His186fs)
|
|
|
|
NM_000135.4(FANCA):c.558C>G (p.His186Gln)
|
rs149159377
|
|
|
NM_000135.4(FANCA):c.558C>T (p.His186=)
|
rs149159377
|
|
|
NM_000135.4(FANCA):c.559G>C (p.Val187Leu)
|
rs761538996
|
|
|
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
|
|
|
|
NM_000135.4(FANCA):c.561A>G (p.Val187=)
|
rs1050053060
|
|
|
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter)
|
rs776471397
|
|
|
NM_000135.4(FANCA):c.564A>G (p.Gln188=)
|
rs760287473
|
|
|
NM_000135.4(FANCA):c.565G>C (p.Gly189Arg)
|
rs2143657111
|
|
|
NM_000135.4(FANCA):c.567C>G (p.Gly189=)
|
rs2143657102
|
|
|
NM_000135.4(FANCA):c.569T>C (p.Ile190Thr)
|
|
|
|
NM_000135.4(FANCA):c.570T>C (p.Ile190=)
|
|
|
|
NM_000135.4(FANCA):c.573G>C (p.Val191=)
|
rs2143657009
|
|
|
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
|
|
|
|
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile)
|
rs771439604
|
|
|
NM_000135.4(FANCA):c.577C>T (p.Leu193=)
|
rs141861208
|
|
|
NM_000135.4(FANCA):c.579G>T (p.Leu193=)
|
|
|
|
NM_000135.4(FANCA):c.57G>A (p.Arg19=)
|
|
|
|
NM_000135.4(FANCA):c.581A>G (p.Gln194Arg)
|
|
|
|
NM_000135.4(FANCA):c.583G>A (p.Glu195Lys)
|
rs2143656849
|
|
|
NM_000135.4(FANCA):c.586C>T (p.Leu196=)
|
rs781718994
|
|
|
NM_000135.4(FANCA):c.588G>C (p.Leu196=)
|
|
|
|
NM_000135.4(FANCA):c.588G>T (p.Leu196=)
|
rs2143656786
|
|
|
NM_000135.4(FANCA):c.596+11A>G
|
|
|
|
NM_000135.4(FANCA):c.596+17G>A
|
|
|
|
NM_000135.4(FANCA):c.596+18A>G
|
|
|
|
NM_000135.4(FANCA):c.596+1G>A
|
|
|
|
NM_000135.4(FANCA):c.596+1G>C
|
rs2143656696
|
|
|
NM_000135.4(FANCA):c.596+20T>G
|
rs2143656568
|
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
|
NM_000135.4(FANCA):c.596+6G>T
|
rs369548513
|
|
|
NM_000135.4(FANCA):c.596+9C>T
|
|
|
|
NM_000135.4(FANCA):c.597-10G>A
|
|
|
|
NM_000135.4(FANCA):c.597-11T>G
|
|
|
|
NM_000135.4(FANCA):c.597-13T>G
|
rs572176378
|
|
|
NM_000135.4(FANCA):c.597-14G>A
|
|
|
|
NM_000135.4(FANCA):c.597-14G>T
|
|
|
|
NM_000135.4(FANCA):c.597-14GT[3]
|
rs751501568
|
|
|
NM_000135.4(FANCA):c.597-16C>G
|
|
|
|
NM_000135.4(FANCA):c.597-16C>T
|
|
|
|
NM_000135.4(FANCA):c.597-18C>A
|
|
|
|
NM_000135.4(FANCA):c.597-18C>T
|
|
|
|
NM_000135.4(FANCA):c.597-2A>T
|
|
|
|
NM_000135.4(FANCA):c.597-4C>G
|
rs2143632540
|
|
|
NM_000135.4(FANCA):c.597-6C>T
|
rs2143632553
|
|
|
NM_000135.4(FANCA):c.599A>G (p.His200Arg)
|
|
|
|
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys)
|
rs928016876
|
|
|
NM_000135.4(FANCA):c.5C>T (p.Ser2Phe)
|
rs928016876
|
|
|
NM_000135.4(FANCA):c.603C>G (p.Pro201=)
|
|
|
|
NM_000135.4(FANCA):c.605A>G (p.Asp202Gly)
|
|
|
|
NM_000135.4(FANCA):c.607A>G (p.Met203Val)
|
rs2143632366
|
|
|
NM_000135.4(FANCA):c.60G>C (p.Arg20Ser)
|
|
|
|
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly)
|
rs777556447
|
|
|
NM_000135.4(FANCA):c.615T>A (p.Ala205=)
|
|
|
|
NM_000135.4(FANCA):c.616G>T (p.Val206Leu)
|
rs2143632297
|
|
|
NM_000135.4(FANCA):c.617T>C (p.Val206Ala)
|
|
|
|
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp)
|
rs144420697
|
|
|
NM_000135.4(FANCA):c.624G>T (p.Ser208=)
|
rs922099383
|
|
|
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter)
|
rs2143632171
|
|
|
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
|
|
|
|
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys)
|
rs1018067067
|
|
|
NM_000135.4(FANCA):c.628C>G (p.Leu210Val)
|
rs2143632135
|
|
|
NM_000135.4(FANCA):c.631T>C (p.Phe211Leu)
|
|
|
|
NM_000135.4(FANCA):c.633C>T (p.Phe211=)
|
rs1162376354
|
|
|
NM_000135.4(FANCA):c.63C>G (p.Ala21=)
|
|
|
|
NM_000135.4(FANCA):c.63C>T (p.Ala21=)
|
rs973617998
|
|
|
NM_000135.4(FANCA):c.641T>G (p.Leu214Arg)
|
|
|
|
NM_000135.4(FANCA):c.642G>A (p.Leu214=)
|
|
|
|
NM_000135.4(FANCA):c.642G>T (p.Leu214=)
|
|
|
|
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
|
|
|
|
NM_000135.4(FANCA):c.643_644del (p.Cys215fs)
|
rs1338138752
|
|
|
NM_000135.4(FANCA):c.644G>A (p.Cys215Tyr)
|
|
|
|
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
|
|
|
|
NM_000135.4(FANCA):c.647G>C (p.Cys216Ser)
|
rs750011288
|
|
|
NM_000135.4(FANCA):c.649C>T (p.Leu217Phe)
|
|
|
|
NM_000135.4(FANCA):c.657A>G (p.Glu219=)
|
rs761287924
|
|
|
NM_000135.4(FANCA):c.659A>G (p.Gln220Arg)
|
|
|
|
NM_000135.4(FANCA):c.65G>C (p.Trp22Ser)
|
rs761341952
|
|
|
NM_000135.4(FANCA):c.660G>A (p.Gln220=)
|
|
|
|
NM_000135.4(FANCA):c.663G>A (p.Met221Ile)
|
rs1161493688
|
|
|
NM_000135.4(FANCA):c.664G>A (p.Glu222Lys)
|
rs2040599267
|
|
|
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
|
rs2040599267
|
|
|
NM_000135.4(FANCA):c.667G>C (p.Ala223Pro)
|
rs771195871
|
|
|
NM_000135.4(FANCA):c.668C>T (p.Ala223Val)
|
rs749362808
|
|
|
NM_000135.4(FANCA):c.672C>G (p.Ser224=)
|
rs2040598879
|
|
|
NM_000135.4(FANCA):c.674G>A (p.Cys225Tyr)
|
|
|
|
NM_000135.4(FANCA):c.679C>T (p.His227Tyr)
|
|
|
|
NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)
|
|
|
|
NM_000135.4(FANCA):c.68C>G (p.Ala23Gly)
|
rs776297241
|
|
|
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)
|
rs776297241
|
|
|
NM_000135.4(FANCA):c.690C>A (p.Val230=)
|
rs942275917
|
|
|
NM_000135.4(FANCA):c.690C>T (p.Val230=)
|
rs942275917
|
|
|
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr)
|
rs746814384
|
|
|
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)
|
rs746814384
|
|
|
NM_000135.4(FANCA):c.69C>G (p.Ala23=)
|
rs746429608
|
|
|
NM_000135.4(FANCA):c.6C>A (p.Ser2=)
|
rs982258436
|
|
|
NM_000135.4(FANCA):c.6C>T (p.Ser2=)
|
rs982258436
|
|
|
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe)
|
rs1316244239
|
|
|
NM_000135.4(FANCA):c.709+10T>A
|
rs2040596341
|
|
|
NM_000135.4(FANCA):c.709+11G>A
|
|
|
|
NM_000135.4(FANCA):c.709+12A>G
|
|
|
|
NM_000135.4(FANCA):c.709+13C>G
|
|
|
|
NM_000135.4(FANCA):c.709+13C>T
|
rs763207362
|
|
|
NM_000135.4(FANCA):c.709+14A>C
|
|
|
|
NM_000135.4(FANCA):c.709+14A>G
|
|
|
|
NM_000135.4(FANCA):c.709+14_709+15del
|
|
|
|
NM_000135.4(FANCA):c.709+16G>C
|
|
|
|
NM_000135.4(FANCA):c.709+19G>A
|
|
|
|
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.709+5G>T
|
rs759877008
|
|
|
NM_000135.4(FANCA):c.709+8C>G
|
rs2143631129
|
|
|
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)
|
rs1311396994
|
|
|
NM_000135.4(FANCA):c.710-11T>C
|
|
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
|
NM_000135.4(FANCA):c.710-15T>A
|
|
|
|
NM_000135.4(FANCA):c.710-16T>A
|
|
|
|
NM_000135.4(FANCA):c.710-16T>C
|
rs2143616238
|
|
|
NM_000135.4(FANCA):c.710-1G>A
|
|
|
|
NM_000135.4(FANCA):c.710-1G>T
|
|
|
|
NM_000135.4(FANCA):c.710-20_710-19del
|
rs2040524550
|
|
|
NM_000135.4(FANCA):c.710-3C>A
|
|
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
|
NM_000135.4(FANCA):c.715G>A (p.Val239Ile)
|
|
|
|
NM_000135.4(FANCA):c.715G>C (p.Val239Leu)
|
|
|
|
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu)
|
rs1184639006
|
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
|
NM_000135.4(FANCA):c.72G>A (p.Glu24=)
|
|
|
|
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)
|
rs868620166
|
|
|
NM_000135.4(FANCA):c.735G>C (p.Arg245Ser)
|
|
|
|
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
|
|
|
|
NM_000135.4(FANCA):c.737del (p.Gly246fs)
|
rs2143615845
|
|
|
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)
|
rs760744752
|
|
|
NM_000135.4(FANCA):c.745A>G (p.Lys249Glu)
|
|
|
|
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)
|
rs878853666
|
|
|
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu)
|
rs878853666
|
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
|
NM_000135.4(FANCA):c.757C>T (p.Leu253=)
|
|
|
|
NM_000135.4(FANCA):c.760A>C (p.Arg254=)
|
rs770552398
|
|
|
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)
|
rs555210441
|
|
|
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser)
|
rs1025722534
|
|
|
NM_000135.4(FANCA):c.765A>G (p.Arg255=)
|
|
|
|
NM_000135.4(FANCA):c.766A>G (p.Thr256Ala)
|
rs898767175
|
|
|
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn)
|
rs377078635
|
|
|
NM_000135.4(FANCA):c.768T>G (p.Thr256=)
|
|
|
|
NM_000135.4(FANCA):c.769G>T (p.Val257Leu)
|
rs777311234
|
|
|
NM_000135.4(FANCA):c.76C>T (p.Leu26=)
|
rs2041137276
|
|
|
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
|
|
|
|
NM_000135.4(FANCA):c.774G>A (p.Glu258=)
|
|
|
|
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala)
|
rs200988394
|
|
|
NM_000135.4(FANCA):c.775C>T (p.Pro259Ser)
|
|
|
|
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)
|
rs1598173112
|
|
|
NM_000135.4(FANCA):c.777T>A (p.Pro259=)
|
|
|
|
NM_000135.4(FANCA):c.779A>G (p.Glu260Gly)
|
|
|
|
NM_000135.4(FANCA):c.788C>T (p.Pro263Leu)
|
|
|
|
NM_000135.4(FANCA):c.789G>A (p.Pro263=)
|
rs34354932
|
|
|
NM_000135.4(FANCA):c.789G>T (p.Pro263=)
|
rs34354932
|
|
|
NM_000135.4(FANCA):c.78G>A (p.Leu26=)
|
rs1180368142
|
|
|
NM_000135.4(FANCA):c.79+13G>C
|
|
|
|
NM_000135.4(FANCA):c.79+14G>A
|
|
|
|
NM_000135.4(FANCA):c.79+15C>G
|
|
|
|
NM_000135.4(FANCA):c.79+15C>T
|
|
|
|
NM_000135.4(FANCA):c.79+16A>T
|
|
|
|
NM_000135.4(FANCA):c.79+17G>T
|
rs2143730538
|
|
|
NM_000135.4(FANCA):c.79+19C>T
|
|
|
|
NM_000135.4(FANCA):c.79+20C>T
|
|
|
|
NM_000135.4(FANCA):c.79+21_79+43del
|
|
|
|
NM_000135.4(FANCA):c.79+4G>A
|
rs2041136967
|
|
|
NM_000135.4(FANCA):c.79+4G>C
|
rs2041136967
|
|
|
NM_000135.4(FANCA):c.79+6T>C
|
|
|
|
NM_000135.4(FANCA):c.79+9G>A
|
rs2143730627
|
|
|
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
|
rs1353992080
|
|
|
NM_000135.4(FANCA):c.792+11A>G
|
rs2143615222
|
|
|
NM_000135.4(FANCA):c.792+13G>A
|
|
|
|
NM_000135.4(FANCA):c.792+17_792+19del
|
|
|
|
NM_000135.4(FANCA):c.792+19T>C
|
|
|
|
NM_000135.4(FANCA):c.792+1G>A
|
rs2143615250
|
|
|
NM_000135.4(FANCA):c.792+1G>C
|
|
|
|
NM_000135.4(FANCA):c.792+8G>C
|
rs2143615230
|
|
|
NM_000135.4(FANCA):c.793-10A>G
|
rs368979136
|
|
|
NM_000135.4(FANCA):c.793-12C>T
|
rs746312984
|
|
|
NM_000135.4(FANCA):c.793-16C>G
|
|
|
|
NM_000135.4(FANCA):c.793-16C>T
|
rs2040372946
|
|
|
NM_000135.4(FANCA):c.793-16_793-15del
|
|
|
|
NM_000135.4(FANCA):c.793-18C>A
|
rs776158574
|
|
|
NM_000135.4(FANCA):c.793-18C>G
|
|
|
|
NM_000135.4(FANCA):c.793-18C>T
|
rs776158574
|
|
|
NM_000135.4(FANCA):c.793-1G>C
|
rs1567642367
|
|
|
NM_000135.4(FANCA):c.793-2A>G
|
|
|
|
NM_000135.4(FANCA):c.793-5G>A
|
|
|
|
NM_000135.4(FANCA):c.793-5G>T
|
rs1461529538
|
|
|
NM_000135.4(FANCA):c.793-6T>C
|
rs1159861002
|
|
|
NM_000135.4(FANCA):c.795_796inv (p.Thr266Ala)
|
|
|
|
NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu)
|
rs2143585439
|
|
|
NM_000135.4(FANCA):c.798G>A (p.Thr266=)
|
rs767444643
|
|
|
NM_000135.4(FANCA):c.798G>C (p.Thr266=)
|
|
|
|
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr)
|
rs1246636933
|
|
|
NM_000135.4(FANCA):c.80-10C>A
|
rs771005210
|
|
|
NM_000135.4(FANCA):c.80-10C>G
|
|
|
|
NM_000135.4(FANCA):c.80-10C>T
|
rs771005210
|
|
|
NM_000135.4(FANCA):c.80-13C>G
|
|
|
|
NM_000135.4(FANCA):c.80-15G>A
|
|
|
|
NM_000135.4(FANCA):c.80-16C>G
|
|
|
|
NM_000135.4(FANCA):c.80-16C>T
|
|
|
|
NM_000135.4(FANCA):c.80-4G>A
|
rs747881254
|
|
|
NM_000135.4(FANCA):c.80-5C>G
|
|
|
|
NM_000135.4(FANCA):c.80-6C>G
|
rs981258320
|
|
|
NM_000135.4(FANCA):c.80-8C>G
|
rs749080227
|
|
|
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs)
|
rs2143585362
|
|
|
NM_000135.4(FANCA):c.804T>C (p.Asp268=)
|
|
|
|
NM_000135.4(FANCA):c.805G>A (p.Val269Ile)
|
rs1555566973
|
|
|
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
|
|
|
|
NM_000135.4(FANCA):c.807A>G (p.Val269=)
|
|
|
|
NM_000135.4(FANCA):c.808C>T (p.Leu270=)
|
|
|
|
NM_000135.4(FANCA):c.80C>T (p.Ala27Val)
|
|
|
|
NM_000135.4(FANCA):c.813G>C (p.Gln271His)
|
rs773057753
|
|
|
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)
|
|
|
|
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
|
|
|
|
NM_000135.4(FANCA):c.820C>T (p.Leu274=)
|
rs2040370137
|
|
|
NM_000135.4(FANCA):c.825T>A (p.Ile275=)
|
|
|
|
NM_000135.4(FANCA):c.826+10T>C
|
rs536052530
|
|
|
NM_000135.4(FANCA):c.826+11T>G
|
|
|
|
NM_000135.4(FANCA):c.826+14A>G
|
|
|
|
NM_000135.4(FANCA):c.826+15C>G
|
|
|
|
NM_000135.4(FANCA):c.826+15C>T
|
|
|
|
NM_000135.4(FANCA):c.826+17G>A
|
|
|
|
NM_000135.4(FANCA):c.826+17G>T
|
|
|
|
NM_000135.4(FANCA):c.826+2T>C
|
rs2143585058
|
|
|
NM_000135.4(FANCA):c.826+4A>G
|
|
|
|
NM_000135.4(FANCA):c.826+8A>G
|
rs774666675
|
|
|
NM_000135.4(FANCA):c.826+9A>G
|
rs2143584994
|
|
|
NM_000135.4(FANCA):c.826+9A>T
|
rs2143584994
|
|
|
NM_000135.4(FANCA):c.827-10_827-9del
|
rs1419817251
|
|
|
NM_000135.4(FANCA):c.827-10dup
|
|
|
|
NM_000135.4(FANCA):c.827-11T>C
|
|
|
|
NM_000135.4(FANCA):c.827-11T>G
|
|
|
|
NM_000135.4(FANCA):c.827-12C>T
|
|
|
|
NM_000135.4(FANCA):c.827-1G>A
|
|
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
|
NM_000135.4(FANCA):c.827-20G>T
|
|
|
|
NM_000135.4(FANCA):c.827-3C>T
|
|
|
|
NM_000135.4(FANCA):c.827-4T>G
|
|
|
|
NM_000135.4(FANCA):c.827-5T>C
|
rs751311949
|
|
|
NM_000135.4(FANCA):c.827-6C>T
|
rs756991336
|
|
|
NM_000135.4(FANCA):c.827-7T>G
|
rs370344285
|
|
|
NM_000135.4(FANCA):c.827-9T>C
|
rs2143581941
|
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
|
NM_000135.4(FANCA):c.830C>T (p.Ala277Val)
|
rs35880318
|
|
|
NM_000135.4(FANCA):c.831_848dup (p.Leu278_Ala283dup)
|
rs761967813
|
|
|
NM_000135.4(FANCA):c.834T>C (p.Leu278=)
|
|
|
|
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr)
|
rs1555566625
|
|
|
NM_000135.4(FANCA):c.837C>A (p.Asp279Glu)
|
rs752311383
|
|
|
NM_000135.4(FANCA):c.843G>A (p.Leu281=)
|
|
|
|
NM_000135.4(FANCA):c.844_845delinsTA (p.Ala282Tyr)
|
rs2143581602
|
|
|
NM_000135.4(FANCA):c.848C>G (p.Ala283Gly)
|
rs770479721
|
|
|
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
|
|
|
|
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)
|
rs762079136
|
|
|
NM_000135.4(FANCA):c.856C>G (p.Gln286Glu)
|
rs1291524243
|
|
|
NM_000135.4(FANCA):c.85A>C (p.Arg29=)
|
rs2143724622
|
|
|
NM_000135.4(FANCA):c.861G>A (p.Glu287=)
|
rs2143581361
|
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
|
NM_000135.4(FANCA):c.867C>T (p.Ser289=)
|
rs1463784702
|
|
|
NM_000135.4(FANCA):c.869C>G (p.Ser290Cys)
|
rs185984960
|
|
|
NM_000135.4(FANCA):c.869C>T (p.Ser290Phe)
|
rs185984960
|
|
|
NM_000135.4(FANCA):c.86G>T (p.Arg29Met)
|
rs764561391
|
|
|
NM_000135.4(FANCA):c.871A>G (p.Thr291Ala)
|
|
|
|
NM_000135.4(FANCA):c.874C>T (p.His292Tyr)
|
|
|
|
NM_000135.4(FANCA):c.876C>T (p.His292=)
|
rs527897404
|
|
|
NM_000135.4(FANCA):c.877A>G (p.Lys293Glu)
|
|
|
|
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr)
|
rs1555566545
|
|
|
NM_000135.4(FANCA):c.882C>T (p.Ile294=)
|
rs754520622
|
|
|
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr)
|
rs878853667
|
|
|
NM_000135.4(FANCA):c.88G>T (p.Val30Phe)
|
rs1160471115
|
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
|
NM_000135.4(FANCA):c.892T>C (p.Trp298Arg)
|
rs2040352921
|
|
|
NM_000135.4(FANCA):c.893+11G>A
|
|
|
|
NM_000135.4(FANCA):c.893+11G>C
|
|
|
|
NM_000135.4(FANCA):c.893+11G>T
|
|
|
|
NM_000135.4(FANCA):c.893+16T>C
|
|
|
|
NM_000135.4(FANCA):c.893+1G>C
|
|
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
|
NM_000135.4(FANCA):c.893+20C>A
|
|
|
|
NM_000135.4(FANCA):c.893+4T>C
|
rs2143580838
|
|
|
NM_000135.4(FANCA):c.893+4T>G
|
rs2143580838
|
|
|
NM_000135.4(FANCA):c.893+8C>G
|
|
|
|
NM_000135.4(FANCA):c.893+8C>T
|
|
|
|
NM_000135.4(FANCA):c.894-15C>G
|
|
|
|
NM_000135.4(FANCA):c.894-16T>A
|
|
|
|
NM_000135.4(FANCA):c.894-16T>C
|
|
|
|
NM_000135.4(FANCA):c.894-19C>G
|
|
|
|
NM_000135.4(FANCA):c.894-19C>T
|
|
|
|
NM_000135.4(FANCA):c.894-3C>T
|
rs2040234388
|
|
|
NM_000135.4(FANCA):c.894-4G>T
|
rs1275962279
|
|
|
NM_000135.4(FANCA):c.894-8A>C
|
rs11648881
|
|
|
NM_000135.4(FANCA):c.894G>T (p.Trp298Cys)
|
|
|
|
NM_000135.4(FANCA):c.896_897delinsCT (p.Phe299Ser)
|
rs2040234249
|
|
|
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu)
|
rs765341703
|
|
|
NM_000135.4(FANCA):c.897del (p.Phe299fs)
|
|
|
|
NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup)
|
rs2143731691
|
|
|
NM_000135.4(FANCA):c.901G>A (p.Val301Met)
|
rs201134867
|
|
|
NM_000135.4(FANCA):c.901G>C (p.Val301Leu)
|
|
|
|
NM_000135.4(FANCA):c.903G>A (p.Val301=)
|
|
|
|
NM_000135.4(FANCA):c.909T>C (p.Ser303=)
|
rs2143558882
|
|
|
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu)
|
rs745451374
|
|
|
NM_000135.4(FANCA):c.915C>T (p.His305=)
|
|
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
|
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
|
|
|
|
NM_000135.4(FANCA):c.917C>A (p.Thr306Lys)
|
rs370852532
|
|
|
NM_000135.4(FANCA):c.917C>G (p.Thr306Arg)
|
rs370852532
|
|
|
NM_000135.4(FANCA):c.919C>A (p.Leu307Ile)
|
|
|
|
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
|
rs2041101553
|
|
|
NM_000135.4(FANCA):c.923G>A (p.Gly308Asp)
|
rs1441102361
|
|
|
NM_000135.4(FANCA):c.924C>A (p.Gly308=)
|
rs143255238
|
|
|
NM_000135.4(FANCA):c.927T>G (p.Ser309Arg)
|
|
|
|
NM_000135.4(FANCA):c.930A>G (p.Val310=)
|
|
|
|
NM_000135.4(FANCA):c.93G>A (p.Lys31=)
|
rs759630319
|
|
|
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
|
rs759630319
|
|
|
NM_000135.4(FANCA):c.943C>A (p.Pro315Thr)
|
|
|
|
NM_000135.4(FANCA):c.945T>C (p.Pro315=)
|
rs760583815
|
|
|
NM_000135.4(FANCA):c.948G>A (p.Leu316=)
|
rs767146506
|
|
|
NM_000135.4(FANCA):c.948G>C (p.Leu316=)
|
|
|
|
NM_000135.4(FANCA):c.954G>A (p.Arg318=)
|
|
|
|
NM_000135.4(FANCA):c.957C>T (p.Phe319=)
|
rs17226068
|
|
|
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr)
|
rs770984577
|
|
|
NM_000135.4(FANCA):c.960C>T (p.Phe320=)
|
|
|
|
NM_000135.4(FANCA):c.961A>G (p.Ser321Gly)
|
|
|
|
NM_000135.4(FANCA):c.962G>A (p.Ser321Asn)
|
|
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
|
NM_000135.4(FANCA):c.970C>T (p.Leu324=)
|
rs1484944856
|
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
|
NM_000135.4(FANCA):c.972del (p.Thr325fs)
|
|
|
|
NM_000135.4(FANCA):c.976C>G (p.Gln326Glu)
|
|
|
|
NM_000135.4(FANCA):c.97G>A (p.Glu33Lys)
|
rs2041101017
|
|
|
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
|
|
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
|
NM_000135.4(FANCA):c.980T>A (p.Ile327Lys)
|
rs2143558288
|
|
|
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
|
|
|
|
NM_000135.4(FANCA):c.986C>T (p.Thr329Ile)
|
rs757617469
|
|
|
NM_000135.4(FANCA):c.987T>A (p.Thr329=)
|
|
|
|
NM_000135.4(FANCA):c.987T>C (p.Thr329=)
|
rs1045997042
|
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
|
NM_000135.4(FANCA):c.988C>G (p.His330Asp)
|
rs753951882
|
|
|
NM_000135.4(FANCA):c.98A>G (p.Glu33Gly)
|
|
|
|
NM_000135.4(FANCA):c.993C>T (p.Ser331=)
|
|
|
|
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr)
|
rs1056497675
|
|
|
NM_000135.4(FANCA):c.994C>T (p.Pro332Ser)
|
|
|
|
NM_000135.4(FANCA):c.999G>A (p.Val333=)
|
rs1358267888
|
|
|
NM_000135.4(FANCA):c.999G>C (p.Val333=)
|
rs1358267888
|
|
|
NM_000135.4(FANCA):c.999G>T (p.Val333=)
|
|
|
|
NM_000135.4(FANCA):c.9C>T (p.Asp3=)
|
|
|
|
NM_000136.2(FANCC):c.-78-?_250+?del
|
|
|
|
NM_000136.2(FANCC):c.997-?_1154+?del
|
|
|
|
NM_000136.3(FANCC):c.-14del
|
rs2136102536
|
|
|
NM_000136.3(FANCC):c.-18C>A
|
rs762660689
|
|
|
NM_000136.3(FANCC):c.-19C>A
|
rs772475410
|
|
|
NM_000136.3(FANCC):c.-19C>T
|
|
|
|
NM_000136.3(FANCC):c.-21C>G
|
rs1017979233
|
|
|
NM_000136.3(FANCC):c.-21C>T
|
rs1017979233
|
|
|
NM_000136.3(FANCC):c.-33G>A
|
rs2136102765
|
|
|
NM_000136.3(FANCC):c.-34T>C
|
rs2136102771
|
|
|
NM_000136.3(FANCC):c.-36G>A
|
rs1226649340
|
|
|
NM_000136.3(FANCC):c.-44G>A
|
rs2136102852
|
|
|
NM_000136.3(FANCC):c.-49T>C
|
rs2136102893
|
|
|
NM_000136.3(FANCC):c.-52C>T
|
rs2136102913
|
|
|
NM_000136.3(FANCC):c.-59T>C
|
|
|
|
NM_000136.3(FANCC):c.-62C>G
|
rs1688044477
|
|
|
NM_000136.3(FANCC):c.-65C>G
|
rs371725430
|
|
|
NM_000136.3(FANCC):c.-66C>T
|
rs1057524245
|
|
|
NM_000136.3(FANCC):c.-69G>A
|
rs1588354162
|
|
|
NM_000136.3(FANCC):c.-73A>G
|
rs1831191027
|
|
|
NM_000136.3(FANCC):c.-73A>T
|
rs1831191027
|
|
|
NM_000136.3(FANCC):c.-78-1G>C
|
rs2136103070
|
|
|
NM_000136.3(FANCC):c.-78-2A>G
|
rs587779898
|
|
|
NM_000136.3(FANCC):c.-78-3C>A
|
|
|
|
NM_000136.3(FANCC):c.-78-5del
|
rs2136103100
|
|
|
NM_000136.3(FANCC):c.-78-9T>C
|
rs2136103120
|
|
|
NM_000136.3(FANCC):c.-79+1del
|
|
|
|
NM_000136.3(FANCC):c.-79+2dup
|
rs2136457021
|
|
|
NM_000136.3(FANCC):c.-79+6C>T
|
rs2136456999
|
|
|
NM_000136.3(FANCC):c.-79+7G>A
|
rs551170090
|
|
|
NM_000136.3(FANCC):c.-79+7G>C
|
rs551170090
|
|
|
NM_000136.3(FANCC):c.-79+8_-79+18del
|
rs2136456958
|
|
|
NM_000136.3(FANCC):c.-8T>C
|
|
|
|
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser)
|
rs78555330
|
|
|
NM_000136.3(FANCC):c.1008A>C (p.Ala336=)
|
|
|
|
NM_000136.3(FANCC):c.1008A>G (p.Ala336=)
|
rs1588070906
|
|
|
NM_000136.3(FANCC):c.1009C>G (p.Leu337Val)
|
|
|
|
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe)
|
rs587779899
|
|
|
NM_000136.3(FANCC):c.1014G>A (p.Lys338=)
|
rs780776360
|
|
|
NM_000136.3(FANCC):c.1017C>A (p.Thr339=)
|
rs754772354
|
|
|
NM_000136.3(FANCC):c.1023T>C (p.Phe341=)
|
rs758439579
|
|
|
NM_000136.3(FANCC):c.1023T>G (p.Phe341Leu)
|
rs758439579
|
|
|
NM_000136.3(FANCC):c.1029C>T (p.Tyr343=)
|
rs2072504418
|
|
|
NM_000136.3(FANCC):c.102C>G (p.Thr34=)
|
rs2136101018
|
|
|
NM_000136.3(FANCC):c.1032T>C (p.Thr344=)
|
rs2134693062
|
|
|
NM_000136.3(FANCC):c.1034C>T (p.Ser345Phe)
|
rs1348320350
|
|
|
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)
|
rs1064795597
|
|
|
NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr)
|
rs143212932
|
|
|
NM_000136.3(FANCC):c.1053G>A (p.Val351=)
|
rs1301137678
|
|
|
NM_000136.3(FANCC):c.1057C>T (p.Leu353=)
|
|
|
|
NM_000136.3(FANCC):c.1059G>A (p.Leu353=)
|
rs1588070620
|
|
|
NM_000136.3(FANCC):c.1059G>T (p.Leu353=)
|
rs1588070620
|
|
|
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
|
|
|
|
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)
|
rs1588070592
|
|
|
NM_000136.3(FANCC):c.1067C>A (p.Pro356His)
|
rs1060502517
|
|
|
NM_000136.3(FANCC):c.1068T>A (p.Pro356=)
|
|
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
|
NM_000136.3(FANCC):c.1072+1G>A
|
rs1554830789
|
|
|
NM_000136.3(FANCC):c.1072+20G>A
|
rs773767586
|
|
|
NM_000136.3(FANCC):c.1072+2T>A
|
|
|
|
NM_000136.3(FANCC):c.1072+3G>C
|
rs2134691883
|
|
|
NM_000136.3(FANCC):c.1072+5G>A
|
|
|
|
NM_000136.3(FANCC):c.1072+9G>A
|
rs2072499164
|
|
|
NM_000136.3(FANCC):c.1073-10C>T
|
rs2134632915
|
|
|
NM_000136.3(FANCC):c.1073-15T>G
|
|
|
|
NM_000136.3(FANCC):c.1073-18A>C
|
rs876661081
|
|
|
NM_000136.3(FANCC):c.1073-19T>C
|
|
|
|
NM_000136.3(FANCC):c.1073-1G>C
|
rs1554830249
|
|
|
NM_000136.3(FANCC):c.1073-6C>T
|
|
|
|
NM_000136.3(FANCC):c.1073-9C>T
|
|
|
|
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg)
|
rs730881721
|
|
|
NM_000136.3(FANCC):c.1080T>G (p.Pro360=)
|
|
|
|
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp)
|
rs768508859
|
|
|
NM_000136.3(FANCC):c.1085G>T (p.Gly362Val)
|
rs1246894660
|
|
|
NM_000136.3(FANCC):c.1086A>G (p.Gly362=)
|
rs2134632077
|
|
|
NM_000136.3(FANCC):c.1087C>G (p.His363Asp)
|
rs2134632030
|
|
|
NM_000136.3(FANCC):c.1088A>G (p.His363Arg)
|
rs2072244970
|
|
|
NM_000136.3(FANCC):c.1089C>T (p.His363=)
|
rs2134631925
|
|
|
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe)
|
rs1060502514
|
|
|
NM_000136.3(FANCC):c.1095C>G (p.Leu365=)
|
rs1057521687
|
|
|
NM_000136.3(FANCC):c.1095C>T (p.Leu365=)
|
rs1057521687
|
|
|
NM_000136.3(FANCC):c.1098G>A (p.Gln366=)
|
rs1564652354
|
|
|
NM_000136.3(FANCC):c.1098G>C (p.Gln366His)
|
rs1564652354
|
|
|
NM_000136.3(FANCC):c.1101A>C (p.Thr367=)
|
|
|
|
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)
|
rs1057516919
|
|
|
NM_000136.3(FANCC):c.1104G>T (p.Leu368=)
|
|
|
|
NM_000136.3(FANCC):c.1106del (p.Lys369fs)
|
|
|
|
NM_000136.3(FANCC):c.1107G>A (p.Lys369=)
|
rs1321399501
|
|
|
NM_000136.3(FANCC):c.110A>C (p.His37Pro)
|
rs1564794663
|
|
|
NM_000136.3(FANCC):c.1112T>C (p.Ile371Thr)
|
rs2072242960
|
|
|
NM_000136.3(FANCC):c.1125C>G (p.Leu375=)
|
rs2134631148
|
|
|
NM_000136.3(FANCC):c.1126A>C (p.Arg376=)
|
|
|
|
NM_000136.3(FANCC):c.1129G>A (p.Glu377Lys)
|
rs1588060425
|
|
|
NM_000136.3(FANCC):c.112G>C (p.Val38Leu)
|
rs778951584
|
|
|
NM_000136.3(FANCC):c.1131A>C (p.Glu377Asp)
|
rs2134631019
|
|
|
NM_000136.3(FANCC):c.1132G>A (p.Ala378Thr)
|
rs2134630989
|
|
|
NM_000136.3(FANCC):c.1134A>T (p.Ala378=)
|
|
|
|
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala)
|
rs745693332
|
|
|
NM_000136.3(FANCC):c.1148C>T (p.Thr383Ile)
|
|
|
|
NM_000136.3(FANCC):c.1154+11A>G
|
|
|
|
NM_000136.3(FANCC):c.1154+12C>T
|
|
|
|
NM_000136.3(FANCC):c.1154+13T>G
|
|
|
|
NM_000136.3(FANCC):c.1154+14G>A
|
rs751776859
|
|
|
NM_000136.3(FANCC):c.1154+17C>T
|
rs1356928463
|
|
|
NM_000136.3(FANCC):c.1154+19C>T
|
|
|
|
NM_000136.3(FANCC):c.1154+20T>G
|
|
|
|
NM_000136.3(FANCC):c.1154+2dup
|
rs1386979449
|
|
|
NM_000136.3(FANCC):c.1154+8A>G
|
rs2134630249
|
|
|
NM_000136.3(FANCC):c.1154+9A>G
|
|
|
|
NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu)
|
|
|
|
NM_000136.3(FANCC):c.1155-12C>T
|
|
|
|
NM_000136.3(FANCC):c.1155-13G>A
|
|
|
|
NM_000136.3(FANCC):c.1155-13G>C
|
rs747142087
|
|
|
NM_000136.3(FANCC):c.1155-14T>G
|
rs2134552606
|
|
|
NM_000136.3(FANCC):c.1155-18G>C
|
|
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
|
NM_000136.3(FANCC):c.1155-2A>G
|
rs1343170313
|
|
|
NM_000136.3(FANCC):c.1155-7G>A
|
|
|
|
NM_000136.3(FANCC):c.1155-7G>C
|
rs2071943921
|
|
|
NM_000136.3(FANCC):c.1155-8del
|
rs2071944189
|
|
|
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg)
|
rs371897078
|
|
|
NM_000136.3(FANCC):c.1166G>A (p.Gly389Asp)
|
rs2071942181
|
|
|
NM_000136.3(FANCC):c.1170C>G (p.Pro390=)
|
rs878853668
|
|
|
NM_000136.3(FANCC):c.1170C>T (p.Pro390=)
|
rs878853668
|
|
|
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)
|
rs1554829561
|
|
|
NM_000136.3(FANCC):c.117T>G (p.Ala39=)
|
|
|
|
NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter)
|
rs2134551203
|
|
|
NM_000136.3(FANCC):c.1188G>A (p.Leu396=)
|
rs2134551050
|
|
|
NM_000136.3(FANCC):c.1191C>T (p.Phe397=)
|
|
|
|
NM_000136.3(FANCC):c.1194T>G (p.Ile398Met)
|
rs752274299
|
|
|
NM_000136.3(FANCC):c.1198T>G (p.Phe400Val)
|
rs1480679034
|
|
|
NM_000136.3(FANCC):c.1199del (p.Phe400fs)
|
rs2134550787
|
|
|
NM_000136.3(FANCC):c.1200C>T (p.Phe400=)
|
rs767215159
|
|
|
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
|
|
|
|
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)
|
|
|
|
NM_000136.3(FANCC):c.120G>A (p.Gln40=)
|
rs905858585
|
|
|
NM_000136.3(FANCC):c.120G>C (p.Gln40His)
|
rs905858585
|
|
|
NM_000136.3(FANCC):c.1212T>C (p.Ala404=)
|
rs2134550393
|
|
|
NM_000136.3(FANCC):c.1217T>C (p.Met406Thr)
|
rs1159499581
|
|
|
NM_000136.3(FANCC):c.1218G>C (p.Met406Ile)
|
rs766086120
|
|
|
NM_000136.3(FANCC):c.1225G>A (p.Glu409Lys)
|
rs1209529082
|
|
|
NM_000136.3(FANCC):c.1227G>A (p.Glu409=)
|
rs2134549988
|
|
|
NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)
|
|
|
|
NM_000136.3(FANCC):c.1234C>T (p.Leu412=)
|
|
|
|
NM_000136.3(FANCC):c.1235T>C (p.Leu412Pro)
|
|
|
|
NM_000136.3(FANCC):c.1243G>A (p.Ala415Thr)
|
|
|
|
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)
|
rs550462055
|
|
|
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)
|
rs550462055
|
|
|
NM_000136.3(FANCC):c.1248C>G (p.Ala416=)
|
rs747051975
|
|
|
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
|
|
|
|
NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp)
|
rs1064795135
|
|
|
NM_000136.3(FANCC):c.1254C>T (p.Pro418=)
|
rs1057521431
|
|
|
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg)
|
rs864622514
|
|
|
NM_000136.3(FANCC):c.1257C>A (p.Pro419=)
|
rs878853669
|
|
|
NM_000136.3(FANCC):c.1257C>G (p.Pro419=)
|
rs878853669
|
|
|
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
|
rs765551897
|
|
|
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)
|
rs765551897
|
|
|
NM_000136.3(FANCC):c.1260G>A (p.Thr420=)
|
rs749709412
|
|
|
NM_000136.3(FANCC):c.1260G>T (p.Thr420=)
|
|
|
|
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met)
|
rs756716463
|
|
|
NM_000136.3(FANCC):c.1264C>T (p.Leu422=)
|
rs756716463
|
|
|
NM_000136.3(FANCC):c.126G>A (p.Gln42=)
|
rs1831173438
|
|
|
NM_000136.3(FANCC):c.1270T>G (p.Trp424Gly)
|
|
|
|
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)
|
rs2134548133
|
|
|
NM_000136.3(FANCC):c.1275C>T (p.Leu425=)
|
|
|
|
NM_000136.3(FANCC):c.1283T>G (p.Phe428Cys)
|
rs2134547742
|
|
|
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del)
|
rs1588047930
|
|
|
NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del)
|
rs1210997135
|
|
|
NM_000136.3(FANCC):c.1285_1297del (p.Tyr429fs)
|
|
|
|
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)
|
rs766105286
|
|
|
NM_000136.3(FANCC):c.1293C>A (p.Gly431=)
|
rs1330163328
|
|
|
NM_000136.3(FANCC):c.1294C>T (p.Pro432Ser)
|
rs2134547266
|
|
|
NM_000136.3(FANCC):c.1297C>A (p.Arg433Ser)
|
rs369684405
|
|
|
NM_000136.3(FANCC):c.1299T>G (p.Arg433=)
|
rs2134547152
|
|
|
NM_000136.3(FANCC):c.129G>A (p.Glu43=)
|
rs1246204881
|
|
|
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
|
|
|
|
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn)
|
rs864622522
|
|
|
NM_000136.3(FANCC):c.1300G>C (p.Asp434His)
|
|
|
|
NM_000136.3(FANCC):c.1301A>G (p.Asp434Gly)
|
rs2134547041
|
|
|
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys)
|
rs201549126
|
|
|
NM_000136.3(FANCC):c.1308G>A (p.Arg436=)
|
|
|
|
NM_000136.3(FANCC):c.1311G>A (p.Gln437=)
|
rs1588047742
|
|
|
NM_000136.3(FANCC):c.1312_1329+68dup
|
rs1554829415
|
|
|
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser)
|
rs1588353402
|
|
|
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.1329+10A>G
|
rs977427150
|
|
|
NM_000136.3(FANCC):c.1329+11G>A
|
|
|
|
NM_000136.3(FANCC):c.1329+15C>T
|
|
|
|
NM_000136.3(FANCC):c.1329+16C>T
|
|
|
|
NM_000136.3(FANCC):c.1329+16del
|
|
|
|
NM_000136.3(FANCC):c.1329+18C>T
|
|
|
|
NM_000136.3(FANCC):c.1329+5del
|
rs878853670
|
|
|
NM_000136.3(FANCC):c.1329G>A (p.Met443Ile)
|
rs772133680
|
|
|
NM_000136.3(FANCC):c.132C>T (p.Phe44=)
|
rs2136100617
|
|
|
NM_000136.3(FANCC):c.1330-10T>C
|
rs1386511892
|
|
|
NM_000136.3(FANCC):c.1330-12_1330-8del
|
|
|
|
NM_000136.3(FANCC):c.1330-13T>A
|
|
|
|
NM_000136.3(FANCC):c.1330-13T>C
|
|
|
|
NM_000136.3(FANCC):c.1330-19_1330-10del
|
rs1389222142
|
|
|
NM_000136.3(FANCC):c.1330-2A>C
|
rs2134456820
|
|
|
NM_000136.3(FANCC):c.1330-2A>G
|
|
|
|
NM_000136.3(FANCC):c.1330-7T>C
|
|
|
|
NM_000136.3(FANCC):c.1330-8T>C
|
rs864622221
|
|
|
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile)
|
rs1554828492
|
|
|
NM_000136.3(FANCC):c.1332C>T (p.Val444=)
|
|
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
|
NM_000136.3(FANCC):c.133C>T (p.Leu45=)
|
rs1588353394
|
|
|
NM_000136.3(FANCC):c.1346T>C (p.Val449Ala)
|
rs2134456617
|
|
|
NM_000136.3(FANCC):c.134T>G (p.Leu45Arg)
|
rs2136100589
|
|
|
NM_000136.3(FANCC):c.1351_1352del (p.Gly451fs)
|
|
|
|
NM_000136.3(FANCC):c.1358T>C (p.Leu453Pro)
|
|
|
|
NM_000136.3(FANCC):c.1359C>T (p.Leu453=)
|
|
|
|
NM_000136.3(FANCC):c.135A>G (p.Leu45=)
|
|
|
|
NM_000136.3(FANCC):c.1361T>C (p.Leu454Pro)
|
rs1554828451
|
|
|
NM_000136.3(FANCC):c.1364C>T (p.Ala455Val)
|
rs2071516903
|
|
|
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile)
|
rs863224609
|
|
|
NM_000136.3(FANCC):c.1371C>G (p.Ser457=)
|
rs2134456187
|
|
|
NM_000136.3(FANCC):c.1371C>T (p.Ser457=)
|
rs2134456187
|
|
|
NM_000136.3(FANCC):c.1375A>G (p.Ser459Gly)
|
|
|
|
NM_000136.3(FANCC):c.1377C>T (p.Ser459=)
|
|
|
|
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.1388C>T (p.Ser463Leu)
|
rs1588029402
|
|
|
NM_000136.3(FANCC):c.1389A>G (p.Ser463=)
|
|
|
|
NM_000136.3(FANCC):c.138G>A (p.Arg46=)
|
rs1057521212
|
|
|
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.1395G>A (p.Gln465=)
|
|
|
|
NM_000136.3(FANCC):c.1399C>G (p.Leu467Val)
|
rs1554828405
|
|
|
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter)
|
rs1831172189
|
|
|
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr)
|
rs1588353368
|
|
|
NM_000136.3(FANCC):c.140_143dup (p.Met48fs)
|
rs1831171802
|
|
|
NM_000136.3(FANCC):c.141G>T (p.Lys47Asn)
|
|
|
|
NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly)
|
rs1375711161
|
|
|
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs)
|
rs1588029220
|
|
|
NM_000136.3(FANCC):c.1437C>G (p.Leu479=)
|
|
|
|
NM_000136.3(FANCC):c.1440A>G (p.Arg480=)
|
rs757477758
|
|
|
NM_000136.3(FANCC):c.1440dup (p.Ala481fs)
|
rs2071512726
|
|
|
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)
|
rs773270231
|
|
|
NM_000136.3(FANCC):c.1446T>C (p.Pro482=)
|
rs754079401
|
|
|
NM_000136.3(FANCC):c.1450C>A (p.Gln484Lys)
|
rs764271678
|
|
|
NM_000136.3(FANCC):c.1455G>A (p.Gln485=)
|
rs2134455295
|
|
|
NM_000136.3(FANCC):c.1456C>A (p.Leu486Met)
|
|
|
|
NM_000136.3(FANCC):c.1458G>C (p.Leu486=)
|
rs1588029111
|
|
|
NM_000136.3(FANCC):c.1458G>T (p.Leu486=)
|
rs1588029111
|
|
|
NM_000136.3(FANCC):c.1461C>G (p.Ile487Met)
|
rs2134455188
|
|
|
NM_000136.3(FANCC):c.1464G>A (p.Arg488=)
|
|
|
|
NM_000136.3(FANCC):c.1467C>T (p.His489=)
|
rs1554828385
|
|
|
NM_000136.3(FANCC):c.1471C>G (p.Leu491Val)
|
|
|
|
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del)
|
rs2071510744
|
|
|
NM_000136.3(FANCC):c.1473C>T (p.Leu491=)
|
|
|
|
NM_000136.3(FANCC):c.1478A>G (p.Asn493Ser)
|
|
|
|
NM_000136.3(FANCC):c.147T>C (p.Tyr49=)
|
rs1462121358
|
|
|
NM_000136.3(FANCC):c.1483C>T (p.Leu495=)
|
rs2134454968
|
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
|
NM_000136.3(FANCC):c.1485G>C (p.Leu495=)
|
rs56082100
|
|
|
NM_000136.3(FANCC):c.1486C>T (p.Leu496Phe)
|
|
|
|
NM_000136.3(FANCC):c.1488C>T (p.Leu496=)
|
rs1057520505
|
|
|
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter)
|
rs762501862
|
|
|
NM_000136.3(FANCC):c.1497T>C (p.Pro499=)
|
|
|
|
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu)
|
rs1831182314
|
|
|
NM_000136.3(FANCC):c.1501G>A (p.Gly501Ser)
|
rs746540247
|
|
|
NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp)
|
rs536599109
|
|
|
NM_000136.3(FANCC):c.1502G>T (p.Gly501Val)
|
rs536599109
|
|
|
NM_000136.3(FANCC):c.1503C>T (p.Gly501=)
|
rs2134454633
|
|
|
NM_000136.3(FANCC):c.1504C>T (p.His502Tyr)
|
|
|
|
NM_000136.3(FANCC):c.1513G>T (p.Ala505Ser)
|
rs780179187
|
|
|
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)
|
rs1057516488
|
|
|
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys)
|
rs1554828332
|
|
|
NM_000136.3(FANCC):c.1520A>T (p.Asp507Val)
|
|
|
|
NM_000136.3(FANCC):c.1524C>T (p.Val508=)
|
rs765766432
|
|
|
NM_000136.3(FANCC):c.1527C>T (p.Ile509=)
|
rs1554828322
|
|
|
NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn)
|
rs1233501553
|
|
|
NM_000136.3(FANCC):c.1530C>G (p.Thr510=)
|
rs372199352
|
|
|
NM_000136.3(FANCC):c.1531C>T (p.Leu511=)
|
rs1588028784
|
|
|
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro)
|
rs1554828313
|
|
|
NM_000136.3(FANCC):c.1533+11C>T
|
|
|
|
NM_000136.3(FANCC):c.1533+12del
|
|
|
|
NM_000136.3(FANCC):c.1533+17T>C
|
|
|
|
NM_000136.3(FANCC):c.1533+1G>A
|
|
|
|
NM_000136.3(FANCC):c.1533+1G>T
|
rs753885687
|
|
|
NM_000136.3(FANCC):c.1533+5G>A
|
rs1588028749
|
|
|
NM_000136.3(FANCC):c.1533+6T>A
|
rs2071505631
|
|
|
NM_000136.3(FANCC):c.1533+7C>A
|
|
|
|
NM_000136.3(FANCC):c.1533+7C>T
|
|
|
|
NM_000136.3(FANCC):c.1533+8T>C
|
rs2134454126
|
|
|
NM_000136.3(FANCC):c.1533+9C>T
|
rs863224323
|
|
|
NM_000136.3(FANCC):c.1533G>C (p.Leu511=)
|
rs2071506268
|
|
|
NM_000136.3(FANCC):c.1534-10C>G
|
rs1356632872
|
|
|
NM_000136.3(FANCC):c.1534-13G>T
|
|
|
|
NM_000136.3(FANCC):c.1534-15C>T
|
|
|
|
NM_000136.3(FANCC):c.1534-17T>C
|
|
|
|
NM_000136.3(FANCC):c.1534-19T>C
|
|
|
|
NM_000136.3(FANCC):c.1534-5T>C
|
rs730881727
|
|
|
NM_000136.3(FANCC):c.1534-5T>G
|
rs730881727
|
|
|
NM_000136.3(FANCC):c.1534-5del
|
rs748342368
|
|
|
NM_000136.3(FANCC):c.1534-8G>T
|
rs2071090579
|
|
|
NM_000136.3(FANCC):c.1539T>C (p.Ala513=)
|
rs2134383837
|
|
|
NM_000136.3(FANCC):c.1542C>G (p.His514Gln)
|
|
|
|
NM_000136.3(FANCC):c.1546G>A (p.Ala516Thr)
|
|
|
|
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)
|
rs1554827159
|
|
|
NM_000136.3(FANCC):c.1551G>C (p.Glu517Asp)
|
rs1588008452
|
|
|
NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs)
|
|
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
|
NM_000136.3(FANCC):c.1563G>C (p.Glu521Asp)
|
rs2071088182
|
|
|
NM_000136.3(FANCC):c.1563dup (p.Ile522fs)
|
|
|
|
NM_000136.3(FANCC):c.156G>A (p.Leu52=)
|
rs1060502518
|
|
|
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe)
|
rs1060502518
|
|
|
NM_000136.3(FANCC):c.1572C>A (p.Gly524=)
|
|
|
|
NM_000136.3(FANCC):c.1572C>T (p.Gly524=)
|
rs2134383478
|
|
|
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu)
|
rs971409322
|
|
|
NM_000136.3(FANCC):c.1578T>A (p.Leu526=)
|
|
|
|
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)
|
|
|
|
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro)
|
rs587778326
|
|
|
NM_000136.3(FANCC):c.1587C>G (p.Thr529=)
|
rs1015147630
|
|
|
NM_000136.3(FANCC):c.1596A>G (p.Arg532=)
|
rs1588008241
|
|
|
NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly)
|
rs730881728
|
|
|
NM_000136.3(FANCC):c.15A>T (p.Ser5=)
|
|
|
|
NM_000136.3(FANCC):c.1602T>C (p.Asn534=)
|
|
|
|
NM_000136.3(FANCC):c.1608T>C (p.Leu536=)
|
|
|
|
NM_000136.3(FANCC):c.1609G>T (p.Gly537Cys)
|
|
|
|
NM_000136.3(FANCC):c.1610G>T (p.Gly537Val)
|
|
|
|
NM_000136.3(FANCC):c.1615G>A (p.Glu539Lys)
|
rs2071085287
|
|
|
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg)
|
rs1588008112
|
|
|
NM_000136.3(FANCC):c.1620C>T (p.Ser540=)
|
|
|
|
NM_000136.3(FANCC):c.1621C>T (p.Pro541Ser)
|
rs2071084988
|
|
|
NM_000136.3(FANCC):c.1626A>G (p.Arg542=)
|
|
|
|
NM_000136.3(FANCC):c.1627T>C (p.Ser543Pro)
|
rs1303872874
|
|
|
NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys)
|
rs864622417
|
|
|
NM_000136.3(FANCC):c.1628C>T (p.Ser543Leu)
|
|
|
|
NM_000136.3(FANCC):c.1629A>G (p.Ser543=)
|
rs1352980665
|
|
|
NM_000136.3(FANCC):c.162G>A (p.Glu54=)
|
|
|
|
NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG (p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer)
|
rs2134382573
|
|
|
NM_000136.3(FANCC):c.1631A>G (p.Glu544Gly)
|
|
|
|
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val)
|
rs2071083777
|
|
|
NM_000136.3(FANCC):c.1638G>A (p.Leu546=)
|
rs1429537932
|
|
|
NM_000136.3(FANCC):c.1640C>T (p.Ala547Val)
|
rs2071083482
|
|
|
NM_000136.3(FANCC):c.1641_1658dup (p.Lys552_Glu553insAspArgGluLeuLeuLys)
|
rs1588007941
|
|
|
NM_000136.3(FANCC):c.1643G>T (p.Arg548Leu)
|
|
|
|
NM_000136.3(FANCC):c.164T>C (p.Met55Thr)
|
rs1060502513
|
|
|
NM_000136.3(FANCC):c.165+14C>A
|
|
|
|
NM_000136.3(FANCC):c.165+14C>T
|
|
|
|
NM_000136.3(FANCC):c.165+15A>G
|
|
|
|
NM_000136.3(FANCC):c.165+17A>C
|
|
|
|
NM_000136.3(FANCC):c.165+18A>C
|
|
|
|
NM_000136.3(FANCC):c.165+18A>G
|
|
|
|
NM_000136.3(FANCC):c.165+1G>A
|
|
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
|
NM_000136.3(FANCC):c.165+1del
|
rs1554858249
|
|
|
NM_000136.3(FANCC):c.165+5G>T
|
|
|
|
NM_000136.3(FANCC):c.165+9T>A
|
rs1326163629
|
|
|
NM_000136.3(FANCC):c.1654A>C (p.Lys552Gln)
|
rs2071082816
|
|
|
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg)
|
rs1197938479
|
|
|
NM_000136.3(FANCC):c.1655_1658dup (p.Leu554fs)
|
|
|
|
NM_000136.3(FANCC):c.166-10T>C
|
rs2136091541
|
|
|
NM_000136.3(FANCC):c.166-20A>G
|
|
|
|
NM_000136.3(FANCC):c.166-3C>T
|
rs1554857868
|
|
|
NM_000136.3(FANCC):c.166-6T>C
|
rs1254372586
|
|
|
NM_000136.3(FANCC):c.166-9C>T
|
rs372507085
|
|
|
NM_000136.3(FANCC):c.1663C>A (p.Arg555=)
|
rs370974124
|
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
|
NM_000136.3(FANCC):c.1668T>C (p.Thr556=)
|
|
|
|
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu)
|
rs863224610
|
|
|
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr)
|
|
|
|
NM_000136.3(FANCC):c.167A>T (p.Asp56Val)
|
rs759662786
|
|
|
NM_000136.3(FANCC):c.169T>G (p.Ser57Ala)
|
|
|
|
NM_000136.3(FANCC):c.16_23del (p.Val6fs)
|
|
|
|
NM_000136.3(FANCC):c.173A>G (p.Asn58Ser)
|
rs1831061339
|
|
|
NM_000136.3(FANCC):c.177A>T (p.Thr59=)
|
|
|
|
NM_000136.3(FANCC):c.188G>C (p.Arg63Thr)
|
rs1588350373
|
|
|
NM_000136.3(FANCC):c.189A>T (p.Arg63Ser)
|
rs773388565
|
|
|
NM_000136.3(FANCC):c.197C>T (p.Thr66Ile)
|
rs762234072
|
|
|
NM_000136.3(FANCC):c.201del (p.Ile67fs)
|
rs2136091157
|
|
|
NM_000136.3(FANCC):c.204T>G (p.Gly68=)
|
rs2136091102
|
|
|
NM_000136.3(FANCC):c.207A>G (p.Gln69=)
|
rs1554857834
|
|
|
NM_000136.3(FANCC):c.211T>C (p.Leu71=)
|
rs1159035875
|
|
|
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe)
|
rs2136091002
|
|
|
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser)
|
rs567465885
|
|
|
NM_000136.3(FANCC):c.21T>A (p.Asp7Glu)
|
|
|
|
NM_000136.3(FANCC):c.220del (p.Ala74fs)
|
rs1588350264
|
|
|
NM_000136.3(FANCC):c.222T>C (p.Ala74=)
|
rs1554857821
|
|
|
NM_000136.3(FANCC):c.226del (p.Trp76fs)
|
rs2136090871
|
|
|
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter)
|
rs1189888124
|
|
|
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys)
|
rs876661132
|
|
|
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer)
|
rs2136090829
|
|
|
NM_000136.3(FANCC):c.232C>G (p.Pro78Ala)
|
rs2136090802
|
|
|
NM_000136.3(FANCC):c.234T>G (p.Pro78=)
|
rs1588350226
|
|
|
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro)
|
rs752249253
|
|
|
NM_000136.3(FANCC):c.240T>C (p.Ile80=)
|
rs1554857813
|
|
|
NM_000136.3(FANCC):c.246A>G (p.Ala82=)
|
rs1554857810
|
|
|
NM_000136.3(FANCC):c.246A>T (p.Ala82=)
|
rs1554857810
|
|
|
NM_000136.3(FANCC):c.250+10A>T
|
rs2136090521
|
|
|
NM_000136.3(FANCC):c.250+1G>A
|
rs2136090597
|
|
|
NM_000136.3(FANCC):c.250+8T>A
|
|
|
|
NM_000136.3(FANCC):c.250+9C>A
|
rs1831054662
|
|
|
NM_000136.3(FANCC):c.251-10C>G
|
rs2136049759
|
|
|
NM_000136.3(FANCC):c.251-10C>T
|
rs2136049759
|
|
|
NM_000136.3(FANCC):c.251-12T>G
|
rs1397340091
|
|
|
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.251-4G>A
|
|
|
|
NM_000136.3(FANCC):c.251-5T>C
|
rs2136049740
|
|
|
NM_000136.3(FANCC):c.251-5del
|
|
|
|
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)
|
|
|
|
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
|
|
|
|
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser)
|
rs2136049598
|
|
|
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)
|
rs777918411
|
|
|
NM_000136.3(FANCC):c.268C>A (p.Leu90Ile)
|
rs2136049561
|
|
|
NM_000136.3(FANCC):c.273A>G (p.Ile91Met)
|
|
|
|
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
|
|
|
|
NM_000136.3(FANCC):c.279C>T (p.Cys93=)
|
rs770743418
|
|
|
NM_000136.3(FANCC):c.27T>C (p.Ser9=)
|
rs2136101890
|
|
|
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)
|
rs2136049324
|
|
|
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)
|
|
|
|
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe)
|
|
|
|
NM_000136.3(FANCC):c.288T>C (p.Cys96=)
|
rs864622349
|
|
|
NM_000136.3(FANCC):c.292A>G (p.Ile98Val)
|
|
|
|
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr)
|
rs1830583670
|
|
|
NM_000136.3(FANCC):c.293_296del (p.Ile98fs)
|
rs754779102
|
|
|
NM_000136.3(FANCC):c.294T>C (p.Ile98=)
|
rs2136049291
|
|
|
NM_000136.3(FANCC):c.294_297del (p.Asn99fs)
|
|
|
|
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
|
rs878853671
|
|
|
NM_000136.3(FANCC):c.303A>G (p.Glu101=)
|
|
|
|
NM_000136.3(FANCC):c.306A>G (p.Pro102=)
|
rs1830582695
|
|
|
NM_000136.3(FANCC):c.30T>C (p.Cys10=)
|
|
|
|
NM_000136.3(FANCC):c.315T>C (p.Ser105=)
|
rs749048345
|
|
|
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.328C>G (p.Leu110Val)
|
rs1554856102
|
|
|
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe)
|
|
|
|
NM_000136.3(FANCC):c.330T>C (p.Leu110=)
|
rs2136048963
|
|
|
NM_000136.3(FANCC):c.333C>T (p.Asn111=)
|
rs2136048913
|
|
|
NM_000136.3(FANCC):c.336C>T (p.Ser112=)
|
rs1057521125
|
|
|
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)
|
rs1064793405
|
|
|
NM_000136.3(FANCC):c.340A>G (p.Ile114Val)
|
rs1830580247
|
|
|
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu)
|
rs1830580247
|
|
|
NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)
|
|
|
|
NM_000136.3(FANCC):c.345+18G>T
|
rs765413863
|
|
|
NM_000136.3(FANCC):c.345+19C>T
|
|
|
|
NM_000136.3(FANCC):c.345+3A>G
|
|
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
|
NM_000136.3(FANCC):c.345+9G>T
|
rs2136048623
|
|
|
NM_000136.3(FANCC):c.345+9_345+11del
|
rs1693164213
|
|
|
NM_000136.3(FANCC):c.346-10T>C
|
|
|
|
NM_000136.3(FANCC):c.346-11_346-10del
|
rs863224324
|
|
|
NM_000136.3(FANCC):c.346-12T>A
|
|
|
|
NM_000136.3(FANCC):c.346-14T>G
|
|
|
|
NM_000136.3(FANCC):c.346-18del
|
|
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
|
NM_000136.3(FANCC):c.346-1G>T
|
rs1484503633
|
|
|
NM_000136.3(FANCC):c.346-3del
|
rs766373744
|
|
|
NM_000136.3(FANCC):c.346-7T>A
|
|
|
|
NM_000136.3(FANCC):c.346-7T>G
|
rs1588220867
|
|
|
NM_000136.3(FANCC):c.346-9G>C
|
rs2135589079
|
|
|
NM_000136.3(FANCC):c.346G>C (p.Gly116Arg)
|
rs1440493340
|
|
|
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del)
|
rs1825723799
|
|
|
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp)
|
rs766173332
|
|
|
NM_000136.3(FANCC):c.34_36del (p.Tyr12del)
|
rs1554858333
|
|
|
NM_000136.3(FANCC):c.351A>T (p.Val117=)
|
rs754914546
|
|
|
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter)
|
rs1825725461
|
|
|
NM_000136.3(FANCC):c.354A>G (p.Leu118=)
|
|
|
|
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro)
|
|
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
|
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys)
|
rs762884109
|
|
|
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)
|
rs1588220728
|
|
|
NM_000136.3(FANCC):c.371C>T (p.Ala124Val)
|
rs374602991
|
|
|
NM_000136.3(FANCC):c.372A>G (p.Ala124=)
|
|
|
|
NM_000136.3(FANCC):c.374T>C (p.Leu125Pro)
|
rs2135588560
|
|
|
NM_000136.3(FANCC):c.375C>G (p.Leu125=)
|
|
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
|
NM_000136.3(FANCC):c.381del (p.Phe127fs)
|
rs2135588524
|
|
|
NM_000136.3(FANCC):c.387A>G (p.Lys129=)
|
|
|
|
NM_000136.3(FANCC):c.389_390del (p.Glu130fs)
|
rs1564720605
|
|
|
NM_000136.3(FANCC):c.390A>G (p.Glu130=)
|
rs1419677503
|
|
|
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp)
|
rs1419677503
|
|
|
NM_000136.3(FANCC):c.391G>A (p.Val131Ile)
|
rs543546719
|
|
|
NM_000136.3(FANCC):c.396T>A (p.Ala132=)
|
rs1482798473
|
|
|
NM_000136.3(FANCC):c.396T>C (p.Ala132=)
|
|
|
|
NM_000136.3(FANCC):c.399T>G (p.Leu133=)
|
rs864622764
|
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
|
NM_000136.3(FANCC):c.406C>G (p.Gln136Glu)
|
|
|
|
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg)
|
rs1564720454
|
|
|
NM_000136.3(FANCC):c.417G>A (p.Gly139=)
|
|
|
|
NM_000136.3(FANCC):c.417G>T (p.Gly139=)
|
rs190925189
|
|
|
NM_000136.3(FANCC):c.422C>T (p.Ala141Val)
|
rs2135587894
|
|
|
NM_000136.3(FANCC):c.423A>C (p.Ala141=)
|
|
|
|
NM_000136.3(FANCC):c.423A>T (p.Ala141=)
|
|
|
|
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala)
|
rs864622581
|
|
|
NM_000136.3(FANCC):c.425C>A (p.Pro142His)
|
rs1064793605
|
|
|
NM_000136.3(FANCC):c.42T>C (p.Phe14=)
|
rs760653185
|
|
|
NM_000136.3(FANCC):c.430G>T (p.Asp144Tyr)
|
rs2135587786
|
|
|
NM_000136.3(FANCC):c.432T>G (p.Asp144Glu)
|
rs1825715851
|
|
|
NM_000136.3(FANCC):c.433T>C (p.Tyr145His)
|
rs751054264
|
|
|
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser)
|
rs1564720359
|
|
|
NM_000136.3(FANCC):c.439C>G (p.Pro147Ala)
|
|
|
|
NM_000136.3(FANCC):c.445T>C (p.Leu149=)
|
rs2135587533
|
|
|
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)
|
rs1825714345
|
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
|
NM_000136.3(FANCC):c.456+12A>C
|
|
|
|
NM_000136.3(FANCC):c.456+16T>G
|
|
|
|
NM_000136.3(FANCC):c.456+1G>A
|
rs2135587402
|
|
|
NM_000136.3(FANCC):c.456+20C>T
|
rs1057520283
|
|
|
NM_000136.3(FANCC):c.456+6T>C
|
|
|
|
NM_000136.3(FANCC):c.456+8T>G
|
rs761639538
|
|
|
NM_000136.3(FANCC):c.457-10del
|
rs763416214
|
|
|
NM_000136.3(FANCC):c.457-12T>G
|
rs188659251
|
|
|
NM_000136.3(FANCC):c.457-15G>A
|
|
|
|
NM_000136.3(FANCC):c.457-16T>A
|
|
|
|
NM_000136.3(FANCC):c.457-17C>T
|
|
|
|
NM_000136.3(FANCC):c.457-1G>T
|
rs1057516917
|
|
|
NM_000136.3(FANCC):c.457-4A>G
|
|
|
|
NM_000136.3(FANCC):c.460G>C (p.Val154Leu)
|
|
|
|
NM_000136.3(FANCC):c.460del (p.Val154fs)
|
rs1825653076
|
|
|
NM_000136.3(FANCC):c.463T>C (p.Leu155=)
|
rs2135579789
|
|
|
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile)
|
rs1825652301
|
|
|
NM_000136.3(FANCC):c.469T>C (p.Leu157=)
|
rs1825652301
|
|
|
NM_000136.3(FANCC):c.470T>C (p.Leu157Ser)
|
rs200828924
|
|
|
NM_000136.3(FANCC):c.474G>C (p.Ala158=)
|
|
|
|
NM_000136.3(FANCC):c.477T>C (p.Ser159=)
|
|
|
|
NM_000136.3(FANCC):c.485G>C (p.Arg162Thr)
|
rs1825650685
|
|
|
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.491A>T (p.Asn164Ile)
|
rs950623649
|
|
|
NM_000136.3(FANCC):c.494A>G (p.His165Arg)
|
|
|
|
NM_000136.3(FANCC):c.495T>C (p.His165=)
|
rs2135578887
|
|
|
NM_000136.3(FANCC):c.498T>A (p.Leu166=)
|
|
|
|
NM_000136.3(FANCC):c.49_56del (p.Gln17fs)
|
|
|
|
NM_000136.3(FANCC):c.507del (p.Phe169fs)
|
rs1588218493
|
|
|
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser)
|
rs749322338
|
|
|
NM_000136.3(FANCC):c.511A>C (p.Thr171Pro)
|
|
|
|
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala)
|
rs1554842592
|
|
|
NM_000136.3(FANCC):c.514C>G (p.Gln172Glu)
|
rs769998628
|
|
|
NM_000136.3(FANCC):c.516A>G (p.Gln172=)
|
rs748322179
|
|
|
NM_000136.3(FANCC):c.51G>A (p.Gln17=)
|
rs2136101629
|
|
|
NM_000136.3(FANCC):c.521+11A>C
|
|
|
|
NM_000136.3(FANCC):c.521+12A>G
|
|
|
|
NM_000136.3(FANCC):c.521+14T>G
|
|
|
|
NM_000136.3(FANCC):c.521+15A>G
|
|
|
|
NM_000136.3(FANCC):c.521+17A>T
|
|
|
|
NM_000136.3(FANCC):c.521+20T>G
|
|
|
|
NM_000136.3(FANCC):c.521+5G>A
|
rs1301899973
|
|
|
NM_000136.3(FANCC):c.521+5del
|
rs2135578132
|
|
|
NM_000136.3(FANCC):c.521+7G>A
|
|
|
|
NM_000136.3(FANCC):c.522-16_522-14del
|
|
|
|
NM_000136.3(FANCC):c.522-6C>T
|
rs763869417
|
|
|
NM_000136.3(FANCC):c.522-7del
|
|
|
|
NM_000136.3(FANCC):c.522-9C>A
|
|
|
|
NM_000136.3(FANCC):c.522-9C>G
|
|
|
|
NM_000136.3(FANCC):c.523A>G (p.Met175Val)
|
rs876661083
|
|
|
NM_000136.3(FANCC):c.529C>T (p.Pro177Ser)
|
|
|
|
NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)
|
|
|
|
NM_000136.3(FANCC):c.534G>C (p.Glu178Asp)
|
rs776694218
|
|
|
NM_000136.3(FANCC):c.53A>C (p.Lys18Thr)
|
rs2136101612
|
|
|
NM_000136.3(FANCC):c.540G>A (p.Val180=)
|
rs2135428712
|
|
|
NM_000136.3(FANCC):c.540_557del (p.Ala181_Val186del)
|
|
|
|
NM_000136.3(FANCC):c.546C>G (p.Ser182=)
|
|
|
|
NM_000136.3(FANCC):c.547C>G (p.Leu183Val)
|
|
|
|
NM_000136.3(FANCC):c.547C>T (p.Leu183=)
|
rs1554838616
|
|
|
NM_000136.3(FANCC):c.549G>T (p.Leu183=)
|
rs863224611
|
|
|
NM_000136.3(FANCC):c.552A>G (p.Ser184=)
|
rs2135428471
|
|
|
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr)
|
rs1239389302
|
|
|
NM_000136.3(FANCC):c.565C>A (p.Pro189Thr)
|
rs377620735
|
|
|
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)
|
rs1800364
|
|
|
NM_000136.3(FANCC):c.574dup (p.Thr192fs)
|
rs2135428096
|
|
|
NM_000136.3(FANCC):c.576C>G (p.Thr192=)
|
|
|
|
NM_000136.3(FANCC):c.577C>T (p.Leu193=)
|
rs2135427993
|
|
|
NM_000136.3(FANCC):c.584A>G (p.Asp195Gly)
|
rs1800365
|
|
|
NM_000136.3(FANCC):c.585T>G (p.Asp195Glu)
|
rs2135427899
|
|
|
NM_000136.3(FANCC):c.586G>A (p.Val196Ile)
|
|
|
|
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu)
|
rs1457631500
|
|
|
NM_000136.3(FANCC):c.591C>T (p.Asp197=)
|
rs1457631500
|
|
|
NM_000136.3(FANCC):c.592C>A (p.Pro198Thr)
|
|
|
|
NM_000136.3(FANCC):c.594C>G (p.Pro198=)
|
|
|
|
NM_000136.3(FANCC):c.595del (p.Leu199fs)
|
rs1057519366
|
|
|
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro)
|
rs143213659
|
|
|
NM_000136.3(FANCC):c.599T>A (p.Val200Glu)
|
rs2135427579
|
|
|
NM_000136.3(FANCC):c.5dup (p.Gln3fs)
|
rs1268491295
|
|
|
NM_000136.3(FANCC):c.603G>T (p.Glu201Asp)
|
rs1060502516
|
|
|
NM_000136.3(FANCC):c.607C>T (p.Leu203Phe)
|
rs878853672
|
|
|
NM_000136.3(FANCC):c.60T>C (p.Ser20=)
|
rs2136101529
|
|
|
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe)
|
rs1830064754
|
|
|
NM_000136.3(FANCC):c.612del (p.Ile205fs)
|
|
|
|
NM_000136.3(FANCC):c.615C>A (p.Ile205=)
|
|
|
|
NM_000136.3(FANCC):c.61G>C (p.Val21Leu)
|
rs772386467
|
|
|
NM_000136.3(FANCC):c.621T>C (p.His207=)
|
rs1588181585
|
|
|
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu)
|
rs140781259
|
|
|
NM_000136.3(FANCC):c.633T>C (p.Pro211=)
|
rs2135427041
|
|
|
NM_000136.3(FANCC):c.635del (p.Gln212fs)
|
rs2135427018
|
|
|
NM_000136.3(FANCC):c.63A>G (p.Val21=)
|
rs1477321622
|
|
|
NM_000136.3(FANCC):c.640dup (p.Ile214fs)
|
rs1057517203
|
|
|
NM_000136.3(FANCC):c.641T>A (p.Ile214Asn)
|
|
|
|
NM_000136.3(FANCC):c.642C>A (p.Ile214=)
|
rs777274497
|
|
|
NM_000136.3(FANCC):c.642C>T (p.Ile214=)
|
rs777274497
|
|
|
NM_000136.3(FANCC):c.645C>T (p.Leu215=)
|
|
|
|
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
|
|
|
|
NM_000136.3(FANCC):c.648G>A (p.Gln216=)
|
|
|
|
NM_000136.3(FANCC):c.651A>G (p.Pro217=)
|
|
|
|
NM_000136.3(FANCC):c.657C>T (p.Phe219=)
|
rs2135426603
|
|
|
NM_000136.3(FANCC):c.659T>G (p.Phe220Cys)
|
rs1012529150
|
|
|
NM_000136.3(FANCC):c.663G>A (p.Glu221=)
|
rs2135426464
|
|
|
NM_000136.3(FANCC):c.666T>C (p.Ala222=)
|
rs2135426385
|
|
|
NM_000136.3(FANCC):c.669A>G (p.Val223=)
|
rs1588181348
|
|
|
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)
|
|
|
|
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys)
|
rs374176091
|
|
|
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)
|
rs374176091
|
|
|
NM_000136.3(FANCC):c.676G>A (p.Ala226Thr)
|
|
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
|
NM_000136.3(FANCC):c.683T>C (p.Leu228Ser)
|
rs2135426128
|
|
|
NM_000136.3(FANCC):c.686+10A>G
|
rs2135425899
|
|
|
NM_000136.3(FANCC):c.686+13T>C
|
|
|
|
NM_000136.3(FANCC):c.686+16T>G
|
rs774813556
|
|
|
NM_000136.3(FANCC):c.686+17T>C
|
|
|
|
NM_000136.3(FANCC):c.686+1G>C
|
rs1057517125
|
|
|
NM_000136.3(FANCC):c.686+1G>T
|
rs1057517125
|
|
|
NM_000136.3(FANCC):c.686+5G>A
|
rs1064794691
|
|
|
NM_000136.3(FANCC):c.686T>G (p.Leu229Arg)
|
|
|
|
NM_000136.3(FANCC):c.687-11C>A
|
|
|
|
NM_000136.3(FANCC):c.687-12T>G
|
|
|
|
NM_000136.3(FANCC):c.687-14T>A
|
|
|
|
NM_000136.3(FANCC):c.687-15A>G
|
|
|
|
NM_000136.3(FANCC):c.687-16T>C
|
|
|
|
NM_000136.3(FANCC):c.687-17T>G
|
|
|
|
NM_000136.3(FANCC):c.687-19_687-16del
|
|
|
|
NM_000136.3(FANCC):c.687-1G>A
|
rs1588134748
|
|
|
NM_000136.3(FANCC):c.687-4A>G
|
rs2135168785
|
|
|
NM_000136.3(FANCC):c.687-6T>C
|
rs2135168920
|
|
|
NM_000136.3(FANCC):c.687-6T>G
|
|
|
|
NM_000136.3(FANCC):c.687-6dup
|
|
|
|
NM_000136.3(FANCC):c.687-9T>G
|
rs2135169028
|
|
|
NM_000136.3(FANCC):c.687G>A (p.Leu229=)
|
rs864622527
|
|
|
NM_000136.3(FANCC):c.689AGA[1] (p.Lys231del)
|
rs3831244
|
|
|
NM_000136.3(FANCC):c.6T>C (p.Ala2=)
|
rs376084231
|
|
|
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
|
rs1827537458
|
|
|
NM_000136.3(FANCC):c.704C>G (p.Pro235Arg)
|
|
|
|
NM_000136.3(FANCC):c.705del (p.Met236fs)
|
rs2135168243
|
|
|
NM_000136.3(FANCC):c.707T>C (p.Met236Thr)
|
|
|
|
NM_000136.3(FANCC):c.711A>G (p.Ser237=)
|
|
|
|
NM_000136.3(FANCC):c.718G>A (p.Val240Ile)
|
rs866787972
|
|
|
NM_000136.3(FANCC):c.720C>A (p.Val240=)
|
rs1444550098
|
|
|
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter)
|
rs2135167716
|
|
|
NM_000136.3(FANCC):c.733C>G (p.Arg245Gly)
|
|
|
|
NM_000136.3(FANCC):c.735G>A (p.Arg245=)
|
rs1174763492
|
|
|
NM_000136.3(FANCC):c.738C>T (p.His246=)
|
rs1414558793
|
|
|
NM_000136.3(FANCC):c.742C>T (p.Pro248Ser)
|
|
|
|
NM_000136.3(FANCC):c.743C>G (p.Pro248Arg)
|
|
|
|
NM_000136.3(FANCC):c.744C>G (p.Pro248=)
|
rs758201013
|
|
|
NM_000136.3(FANCC):c.744C>T (p.Pro248=)
|
rs758201013
|
|
|
NM_000136.3(FANCC):c.748C>T (p.Leu250Phe)
|
rs778966663
|
|
|
NM_000136.3(FANCC):c.749T>C (p.Leu250Pro)
|
rs1827530053
|
|
|
NM_000136.3(FANCC):c.753A>G (p.Glu251=)
|
|
|
|
NM_000136.3(FANCC):c.759A>T (p.Ala253=)
|
|
|
|
NM_000136.3(FANCC):c.760A>G (p.Met254Val)
|
rs757294568
|
|
|
NM_000136.3(FANCC):c.764T>C (p.Leu255Pro)
|
rs767634640
|
|
|
NM_000136.3(FANCC):c.765G>A (p.Leu255=)
|
rs1588134446
|
|
|
NM_000136.3(FANCC):c.76dup (p.Ser26fs)
|
|
|
|
NM_000136.3(FANCC):c.773T>C (p.Phe258Ser)
|
|
|
|
NM_000136.3(FANCC):c.778A>G (p.Lys260Glu)
|
rs1282238372
|
|
|
NM_000136.3(FANCC):c.783A>C (p.Leu261=)
|
rs1060504646
|
|
|
NM_000136.3(FANCC):c.783A>G (p.Leu261=)
|
rs1060504646
|
|
|
NM_000136.3(FANCC):c.78C>T (p.Ser26=)
|
|
|
|
NM_000136.3(FANCC):c.797G>A (p.Arg266Lys)
|
|
|
|
NM_000136.3(FANCC):c.797_798dup (p.Asn267fs)
|
|
|
|
NM_000136.3(FANCC):c.798A>G (p.Arg266=)
|
|
|
|
NM_000136.3(FANCC):c.803G>A (p.Cys268Tyr)
|
rs2135165898
|
|
|
NM_000136.3(FANCC):c.804T>C (p.Cys268=)
|
|
|
|
NM_000136.3(FANCC):c.807G>A (p.Leu269=)
|
rs2135165808
|
|
|
NM_000136.3(FANCC):c.80C>G (p.Thr27Ser)
|
rs1489419613
|
|
|
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile)
|
rs1489419613
|
|
|
NM_000136.3(FANCC):c.811A>G (p.Arg271Gly)
|
rs2135165709
|
|
|
NM_000136.3(FANCC):c.812G>C (p.Arg271Thr)
|
|
|
|
NM_000136.3(FANCC):c.813G>T (p.Arg271Ser)
|
rs2135165634
|
|
|
NM_000136.3(FANCC):c.814A>G (p.Ile272Val)
|
|
|
|
NM_000136.3(FANCC):c.815T>G (p.Ile272Ser)
|
rs1827523728
|
|
|
NM_000136.3(FANCC):c.816C>G (p.Ile272Met)
|
rs55719336
|
|
|
NM_000136.3(FANCC):c.819A>G (p.Glu273=)
|
|
|
|
NM_000136.3(FANCC):c.820T>A (p.Cys274Ser)
|
rs1040503080
|
|
|
NM_000136.3(FANCC):c.821G>T (p.Cys274Phe)
|
rs2135165383
|
|
|
NM_000136.3(FANCC):c.827T>C (p.Ile276Thr)
|
|
|
|
NM_000136.3(FANCC):c.834T>C (p.Asp278=)
|
rs1259273920
|
|
|
NM_000136.3(FANCC):c.837A>G (p.Ser279=)
|
|
|
|
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro)
|
rs1588134159
|
|
|
NM_000136.3(FANCC):c.839C>A (p.Ser280Ter)
|
rs749230615
|
|
|
NM_000136.3(FANCC):c.840G>C (p.Ser280=)
|
|
|
|
NM_000136.3(FANCC):c.840G>T (p.Ser280=)
|
rs34671520
|
|
|
NM_000136.3(FANCC):c.843+12G>A
|
rs2135164340
|
|
|
NM_000136.3(FANCC):c.843+16T>C
|
|
|
|
NM_000136.3(FANCC):c.843+19_843+20insTTTT
|
|
|
|
NM_000136.3(FANCC):c.843+1G>C
|
rs587779909
|
|
|
NM_000136.3(FANCC):c.843+1G>T
|
rs587779909
|
|
|
NM_000136.3(FANCC):c.843+20G>A
|
|
|
|
NM_000136.3(FANCC):c.843+5G>T
|
rs369082921
|
|
|
NM_000136.3(FANCC):c.844-10C>T
|
rs1588106888
|
|
|
NM_000136.3(FANCC):c.844-10_844-8del
|
rs758617953
|
|
|
NM_000136.3(FANCC):c.844-15C>T
|
|
|
|
NM_000136.3(FANCC):c.844-18G>A
|
|
|
|
NM_000136.3(FANCC):c.844-1G>A
|
|
|
|
NM_000136.3(FANCC):c.844-1G>T
|
rs774209201
|
|
|
NM_000136.3(FANCC):c.844-20A>G
|
|
|
|
NM_000136.3(FANCC):c.844-6T>C
|
rs1417324884
|
|
|
NM_000136.3(FANCC):c.844-6T>G
|
rs1417324884
|
|
|
NM_000136.3(FANCC):c.844-7T>C
|
|
|
|
NM_000136.3(FANCC):c.844-8T>C
|
rs2134968959
|
|
|
NM_000136.3(FANCC):c.844-9C>G
|
|
|
|
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys)
|
rs1564667865
|
|
|
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter)
|
rs1564667865
|
|
|
NM_000136.3(FANCC):c.849A>G (p.Gln283=)
|
rs2134968632
|
|
|
NM_000136.3(FANCC):c.854C>G (p.Ala285Gly)
|
|
|
|
NM_000136.3(FANCC):c.857G>A (p.Cys286Tyr)
|
|
|
|
NM_000136.3(FANCC):c.862C>T (p.Pro288Ser)
|
rs1588106749
|
|
|
NM_000136.3(FANCC):c.863del (p.Pro288fs)
|
rs2134968283
|
|
|
NM_000136.3(FANCC):c.866C>T (p.Ala289Val)
|
rs777732881
|
|
|
NM_000136.3(FANCC):c.867C>T (p.Ala289=)
|
rs1588106727
|
|
|
NM_000136.3(FANCC):c.873C>T (p.Phe291=)
|
rs2134967899
|
|
|
NM_000136.3(FANCC):c.874C>T (p.Arg292Trp)
|
rs1306075116
|
|
|
NM_000136.3(FANCC):c.875G>C (p.Arg292Pro)
|
rs747060782
|
|
|
NM_000136.3(FANCC):c.876G>T (p.Arg292=)
|
rs1215600153
|
|
|
NM_000136.3(FANCC):c.879T>G (p.Val293=)
|
|
|
|
NM_000136.3(FANCC):c.880G>A (p.Val294Ile)
|
|
|
|
NM_000136.3(FANCC):c.883dup (p.Asp295fs)
|
rs1826007748
|
|
|
NM_000136.3(FANCC):c.885T>C (p.Asp295=)
|
|
|
|
NM_000136.3(FANCC):c.887A>G (p.Glu296Gly)
|
rs2134967462
|
|
|
NM_000136.3(FANCC):c.888G>A (p.Glu296=)
|
rs779166059
|
|
|
NM_000136.3(FANCC):c.891G>T (p.Met297Ile)
|
rs1554833192
|
|
|
NM_000136.3(FANCC):c.896+10A>C
|
|
|
|
NM_000136.3(FANCC):c.896+13_896+48del
|
rs749142233
|
|
|
NM_000136.3(FANCC):c.896+14T>C
|
rs2134966492
|
|
|
NM_000136.3(FANCC):c.896+16T>C
|
rs764624750
|
|
|
NM_000136.3(FANCC):c.896+19C>T
|
|
|
|
NM_000136.3(FANCC):c.896+1G>C
|
rs1554833186
|
|
|
NM_000136.3(FANCC):c.896+2T>A
|
rs863224441
|
|
|
NM_000136.3(FANCC):c.896+2T>G
|
rs863224441
|
|
|
NM_000136.3(FANCC):c.896+5A>T
|
rs1826005529
|
|
|
NM_000136.3(FANCC):c.896+7G>A
|
rs1554833182
|
|
|
NM_000136.3(FANCC):c.897-11G>T
|
|
|
|
NM_000136.3(FANCC):c.897-12T>G
|
|
|
|
NM_000136.3(FANCC):c.897-20T>A
|
|
|
|
NM_000136.3(FANCC):c.897-6G>A
|
rs2134925431
|
|
|
NM_000136.3(FANCC):c.897-7dup
|
|
|
|
NM_000136.3(FANCC):c.897G>C (p.Arg299Ser)
|
|
|
|
NM_000136.3(FANCC):c.900T>C (p.Cys300=)
|
|
|
|
NM_000136.3(FANCC):c.900T>G (p.Cys300Trp)
|
rs2134924997
|
|
|
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr)
|
rs972738983
|
|
|
NM_000136.3(FANCC):c.902C>T (p.Ala301Val)
|
rs553689536
|
|
|
NM_000136.3(FANCC):c.903A>G (p.Ala301=)
|
rs1825785279
|
|
|
NM_000136.3(FANCC):c.906C>T (p.Leu302=)
|
rs766079351
|
|
|
NM_000136.3(FANCC):c.909G>C (p.Leu303=)
|
rs1588100992
|
|
|
NM_000136.3(FANCC):c.90C>A (p.Thr30=)
|
rs756684704
|
|
|
NM_000136.3(FANCC):c.90C>G (p.Thr30=)
|
rs756684704
|
|
|
NM_000136.3(FANCC):c.911A>C (p.Glu304Ala)
|
|
|
|
NM_000136.3(FANCC):c.913A>G (p.Thr305Ala)
|
rs1397912085
|
|
|
NM_000136.3(FANCC):c.915C>G (p.Thr305=)
|
|
|
|
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu)
|
rs1564665867
|
|
|
NM_000136.3(FANCC):c.921G>A (p.Gly307=)
|
rs1410236696
|
|
|
NM_000136.3(FANCC):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_000136.3(FANCC):c.924C>T (p.Ala308=)
|
rs864622225
|
|
|
NM_000136.3(FANCC):c.935_936del (p.Ile312fs)
|
|
|
|
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)
|
rs776529713
|
|
|
NM_000136.3(FANCC):c.956C>A (p.Thr319Lys)
|
|
|
|
NM_000136.3(FANCC):c.957G>T (p.Thr319=)
|
rs1060504647
|
|
|
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.960G>A (p.Gln320=)
|
|
|
|
NM_000136.3(FANCC):c.972A>C (p.Glu324Asp)
|
rs1261385032
|
|
|
NM_000136.3(FANCC):c.972A>G (p.Glu324=)
|
rs1261385032
|
|
|
NM_000136.3(FANCC):c.975T>C (p.Ala325=)
|
|
|
|
NM_000136.3(FANCC):c.981G>A (p.Glu327=)
|
rs2134922117
|
|
|
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg)
|
rs374915316
|
|
|
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg)
|
rs756408779
|
|
|
NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)
|
|
|
|
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)
|
|
|
|
NM_000136.3(FANCC):c.995A>G (p.Gln332Arg)
|
rs781746980
|
|
|
NM_000136.3(FANCC):c.996+11T>C
|
|
|
|
NM_000136.3(FANCC):c.996+18T>C
|
|
|
|
NM_000136.3(FANCC):c.996+19A>G
|
rs2134920464
|
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
|
NM_000136.3(FANCC):c.996+1G>C
|
rs370510954
|
|
|
NM_000136.3(FANCC):c.996+1_996+2insGA
|
rs1825770738
|
|
|
NM_000136.3(FANCC):c.996+2T>C
|
|
|
|
NM_000136.3(FANCC):c.996+8A>T
|
|
|
|
NM_000136.3(FANCC):c.996+8dup
|
|
|
|
NM_000136.3(FANCC):c.996+9T>A
|
rs757984397
|
|
|
NM_000136.3(FANCC):c.996+9T>C
|
rs757984397
|
|
|
NM_000136.3(FANCC):c.997-14C>A
|
|
|
|
NM_000136.3(FANCC):c.997-15T>C
|
rs922997650
|
|
|
NM_000136.3(FANCC):c.997-3C>T
|
rs878853674
|
|
|
NM_000136.3(FANCC):c.997-5G>T
|
|
|
|
NM_000136.3(FANCC):c.997-64_997-16dup
|
|
|
|
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
|
|
|
|
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)
|
rs1060503527
|
|
|
NM_000969.5(RPL5):c.138A>C (p.Thr46=)
|
|
|
|
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.161G>C (p.Arg54Pro)
|
|
|
|
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)
|
rs1558284033
|
|
|
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser)
|
rs1553285028
|
|
|
NM_000969.5(RPL5):c.173del (p.Arg58fs)
|
|
|
|
NM_000969.5(RPL5):c.175_176del (p.Asp59fs)
|
rs1571024430
|
|
|
NM_000969.5(RPL5):c.179T>C (p.Ile60Thr)
|
|
|
|
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)
|
rs1558284062
|
|
|
NM_000969.5(RPL5):c.189+20G>A
|
|
|
|
NM_000969.5(RPL5):c.189+5G>A
|
|
|
|
NM_000969.5(RPL5):c.190-10C>T
|
|
|
|
NM_000969.5(RPL5):c.190-18G>C
|
|
|
|
NM_000969.5(RPL5):c.190-18G>T
|
|
|
|
NM_000969.5(RPL5):c.190-3T>C
|
|
|
|
NM_000969.5(RPL5):c.190-6C>A
|
|
|
|
NM_000969.5(RPL5):c.190-7_190-2del
|
rs1064796479
|
|
|
NM_000969.5(RPL5):c.192T>G (p.Ile64Met)
|
|
|
|
NM_000969.5(RPL5):c.198T>C (p.Tyr66=)
|
|
|
|
NM_000969.5(RPL5):c.1A>C (p.Met1Leu)
|
rs2100672432
|
|
|
NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
|
|
|
|
NM_000969.5(RPL5):c.220A>G (p.Ile74Val)
|
|
|
|
NM_000969.5(RPL5):c.225C>G (p.Val75=)
|
rs2100680579
|
|
|
NM_000969.5(RPL5):c.232G>A (p.Ala78Thr)
|
|
|
|
NM_000969.5(RPL5):c.233C>G (p.Ala78Gly)
|
|
|
|
NM_000969.5(RPL5):c.234G>A (p.Ala78=)
|
|
|
|
NM_000969.5(RPL5):c.244G>A (p.Glu82Lys)
|
rs587777117
|
|
|
NM_000969.5(RPL5):c.251C>G (p.Pro84Arg)
|
rs970129317
|
|
|
NM_000969.5(RPL5):c.256dup (p.Tyr86fs)
|
rs1553121909
|
|
|
NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys)
|
|
|
|
NM_000969.5(RPL5):c.272del (p.Gly91fs)
|
|
|
|
NM_000969.5(RPL5):c.294A>G (p.Ala98=)
|
|
|
|
NM_000969.5(RPL5):c.298T>G (p.Cys100Gly)
|
rs2100680814
|
|
|
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000969.5(RPL5):c.3+11G>A
|
rs376414614
|
|
|
NM_000969.5(RPL5):c.3+11G>C
|
rs376414614
|
|
|
NM_000969.5(RPL5):c.3+18T>G
|
|
|
|
NM_000969.5(RPL5):c.3+19C>G
|
|
|
|
NM_000969.5(RPL5):c.3+3G>A
|
|
|
|
NM_000969.5(RPL5):c.3+3G>T
|
rs200628272
|
|
|
NM_000969.5(RPL5):c.3+5G>A
|
|
|
|
NM_000969.5(RPL5):c.3+5G>C
|
|
|
|
NM_000969.5(RPL5):c.310C>T (p.Leu104=)
|
rs766476007
|
|
|
NM_000969.5(RPL5):c.316G>A (p.Ala106Thr)
|
rs1687056401
|
|
|
NM_000969.5(RPL5):c.319C>T (p.Arg107Cys)
|
|
|
|
NM_000969.5(RPL5):c.324+8C>A
|
|
|
|
NM_000969.5(RPL5):c.325-14G>A
|
|
|
|
NM_000969.5(RPL5):c.325-16T>C
|
rs1687116560
|
|
|
NM_000969.5(RPL5):c.325-17A>G
|
rs2100684491
|
|
|
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro)
|
rs878854146
|
|
|
NM_000969.5(RPL5):c.332A>G (p.Asn111Ser)
|
|
|
|
NM_000969.5(RPL5):c.335G>A (p.Arg112Lys)
|
|
|
|
NM_000969.5(RPL5):c.344T>C (p.Met115Thr)
|
rs1687118423
|
|
|
NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys)
|
rs1686991615
|
|
|
NM_000969.5(RPL5):c.367G>C (p.Val123Leu)
|
|
|
|
NM_000969.5(RPL5):c.377C>T (p.Thr126Ile)
|
|
|
|
NM_000969.5(RPL5):c.391A>G (p.Asn131Asp)
|
|
|
|
NM_000969.5(RPL5):c.393T>C (p.Asn131=)
|
|
|
|
NM_000969.5(RPL5):c.399A>G (p.Glu133=)
|
|
|
|
NM_000969.5(RPL5):c.4-10T>A
|
rs1686989669
|
|
|
NM_000969.5(RPL5):c.4-17A>T
|
|
|
|
NM_000969.5(RPL5):c.4-1G>A
|
|
|
|
NM_000969.5(RPL5):c.4-7C>T
|
|
|
|
NM_000969.5(RPL5):c.4-7_4-4del
|
rs1558283792
|
|
|
NM_000969.5(RPL5):c.4-7del
|
rs1291987734
|
|
|
NM_000969.5(RPL5):c.4-9T>C
|
|
|
|
NM_000969.5(RPL5):c.404T>C (p.Ile135Thr)
|
rs771599532
|
|
|
NM_000969.5(RPL5):c.415C>T (p.Pro139Ser)
|
|
|
|
NM_000969.5(RPL5):c.419G>A (p.Gly140Asp)
|
rs367631074
|
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
|
|
NM_000969.5(RPL5):c.427A>G (p.Thr143Ala)
|
|
|
|
NM_000969.5(RPL5):c.443C>T (p.Ala148Val)
|
|
|
|
NM_000969.5(RPL5):c.448C>T (p.Leu150Phe)
|
|
|
|
NM_000969.5(RPL5):c.468C>T (p.Gly156=)
|
|
|
|
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.51A>G (p.Gln17=)
|
|
|
|
NM_000969.5(RPL5):c.527+14_527+17dup
|
|
|
|
NM_000969.5(RPL5):c.527+1G>T
|
rs2100685111
|
|
|
NM_000969.5(RPL5):c.527+20C>T
|
|
|
|
NM_000969.5(RPL5):c.527+7A>T
|
|
|
|
NM_000969.5(RPL5):c.527+7_527+19del
|
rs2100685123
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NM_000969.5(RPL5):c.528-17G>A
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NM_000969.5(RPL5):c.528-20T>C
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NM_000969.5(RPL5):c.549T>C (p.Tyr183=)
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NM_000969.5(RPL5):c.556G>C (p.Glu186Gln)
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NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
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NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)
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NM_000969.5(RPL5):c.567A>C (p.Glu189Asp)
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NM_000969.5(RPL5):c.576A>G (p.Ala192=)
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NM_000969.5(RPL5):c.583C>A (p.His195Asn)
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NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)
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NM_000969.5(RPL5):c.598A>G (p.Met200Val)
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NM_000969.5(RPL5):c.601G>A (p.Gly201Ser)
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NM_000969.5(RPL5):c.608dup (p.Asn203fs)
|
rs2100688383
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NM_000969.5(RPL5):c.611T>C (p.Val204Ala)
|
rs1687176905
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NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
|
rs1571031819
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NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)
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NM_000969.5(RPL5):c.626G>T (p.Arg209Leu)
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NM_000969.5(RPL5):c.631T>A (p.Leu211Ile)
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NM_000969.5(RPL5):c.634dup (p.Met212fs)
|
rs1687178005
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NM_000969.5(RPL5):c.651T>C (p.Asp217=)
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NM_000969.5(RPL5):c.674A>C (p.Gln225Pro)
|
rs1687179289
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NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)
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rs121434405
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NM_000969.5(RPL5):c.695C>T (p.Thr232Ile)
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NM_000969.5(RPL5):c.6G>A (p.Gly2=)
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NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr)
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rs938367538
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NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
|
rs576330538
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NM_000969.5(RPL5):c.703A>G (p.Met235Val)
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NM_000969.5(RPL5):c.705+14C>T
|
rs2100688720
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NM_000969.5(RPL5):c.705+4A>G
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NM_000969.5(RPL5):c.705G>A (p.Met235Ile)
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NM_000969.5(RPL5):c.706-10T>C
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NM_000969.5(RPL5):c.706-13T>A
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NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)
|
rs1558283853
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NM_000969.5(RPL5):c.718T>C (p.Tyr240His)
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rs2100696942
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NM_000969.5(RPL5):c.71del (p.Arg24fs)
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NM_000969.5(RPL5):c.72A>G (p.Arg24=)
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NM_000969.5(RPL5):c.73+10C>T
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NM_000969.5(RPL5):c.73+9dup
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NM_000969.5(RPL5):c.74-15_74-13del
|
rs2100676802
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NM_000969.5(RPL5):c.74-2A>G
|
rs2100676852
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NM_000969.5(RPL5):c.74-2del
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NM_000969.5(RPL5):c.74-7C>T
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NM_000969.5(RPL5):c.74-8dup
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NM_000969.5(RPL5):c.744A>G (p.Arg248=)
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NM_000969.5(RPL5):c.761A>G (p.Glu254Gly)
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NM_000969.5(RPL5):c.763AAG[1] (p.Lys256del)
|
rs1571038275
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NM_000969.5(RPL5):c.779A>C (p.Glu260Ala)
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NM_000969.5(RPL5):c.785A>G (p.Lys262Arg)
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NM_000969.5(RPL5):c.788A>G (p.Lys263Arg)
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NM_000969.5(RPL5):c.78T>G (p.Gly26=)
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NM_000969.5(RPL5):c.794+10_794+12del
|
rs1557444104
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NM_000969.5(RPL5):c.794+16_794+19del
|
rs747509136
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NM_000969.5(RPL5):c.794+17_794+19del
|
rs747509136
|
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NM_000969.5(RPL5):c.794+19dup
|
rs747509136
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NM_000969.5(RPL5):c.795-14C>A
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NM_000969.5(RPL5):c.795-14C>G
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NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)
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NM_000969.5(RPL5):c.832G>A (p.Asp278Asn)
|
rs764283613
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NM_000969.5(RPL5):c.838G>A (p.Val280Ile)
|
rs1687377449
|
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NM_000969.5(RPL5):c.854C>A (p.Ala285Glu)
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NM_000969.5(RPL5):c.856A>G (p.Ser286Gly)
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NM_000969.5(RPL5):c.858C>T (p.Ser286=)
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NM_000969.5(RPL5):c.868G>A (p.Ala290Thr)
|
rs1060503545
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NM_000969.5(RPL5):c.877C>T (p.Arg293Trp)
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NM_000969.5(RPL5):c.889A>C (p.Ser297Arg)
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NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)
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NM_000969.5(RPL5):c.9_12del (p.Phe3fs)
|
rs1686990557
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NM_000975.5(RPL11):c.100dup (p.Thr34fs)
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NM_000975.5(RPL11):c.102G>C (p.Thr34=)
|
rs199772693
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NM_000975.5(RPL11):c.107del (p.Ala36fs)
|
rs2124429127
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NM_000975.5(RPL11):c.111del (p.Lys38fs)
|
rs1553121684
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NM_000975.5(RPL11):c.118T>C (p.Leu40=)
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NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)
|
rs2124429140
|
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NM_000975.5(RPL11):c.123G>A (p.Glu41=)
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NM_000975.5(RPL11):c.136_157+26del
|
rs2124429146
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NM_000975.5(RPL11):c.142C>T (p.Pro48Ser)
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NM_000975.5(RPL11):c.14A>G (p.Gln5Arg)
|
rs775235867
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NM_000975.5(RPL11):c.151dup (p.Ser51fs)
|
rs2124429183
|
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NM_000975.5(RPL11):c.157+7dup
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NM_000975.5(RPL11):c.157+9T>G
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NM_000975.5(RPL11):c.158-1G>A
|
rs151155897
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NM_000975.5(RPL11):c.158-7C>G
|
rs768654673
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NM_000975.5(RPL11):c.160dup (p.Arg54fs)
|
rs1644516691
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NM_000975.5(RPL11):c.189G>A (p.Arg63=)
|
rs764531667
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NM_000975.5(RPL11):c.203T>C (p.Ile68Thr)
|
rs1644517016
|
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NM_000975.5(RPL11):c.214T>C (p.Cys72Arg)
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NM_000975.5(RPL11):c.217A>G (p.Thr73Ala)
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NM_000975.5(RPL11):c.219A>G (p.Thr73=)
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NM_000975.5(RPL11):c.222T>G (p.Val74=)
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NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)
|
rs121434389
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NM_000975.5(RPL11):c.236C>T (p.Ala79Val)
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NM_000975.5(RPL11):c.264+13C>T
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NM_000975.5(RPL11):c.264+15C>A
|
rs765761574
|
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NM_000975.5(RPL11):c.264+16del
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NM_000975.5(RPL11):c.264+1G>A
|
rs1553121795
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NM_000975.5(RPL11):c.264+3G>A
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NM_000975.5(RPL11):c.264+4A>T
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NM_000975.5(RPL11):c.265-2A>G
|
rs2124430919
|
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NM_000975.5(RPL11):c.265-6C>T
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NM_000975.5(RPL11):c.265-9dup
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NM_000975.5(RPL11):c.269G>A (p.Arg90Gln)
|
rs757131066
|
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NM_000975.5(RPL11):c.285A>G (p.Arg95=)
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NM_000975.5(RPL11):c.296_298del (p.Phe99del)
|
rs1553121852
|
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NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
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NM_000975.5(RPL11):c.311del (p.Asn104fs)
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NM_000975.5(RPL11):c.325A>G (p.Ile109Val)
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NM_000975.5(RPL11):c.343C>T (p.Leu115=)
|
rs770189198
|
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NM_000975.5(RPL11):c.375C>T (p.Ile125=)
|
rs2124431138
|
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NM_000975.5(RPL11):c.38G>A (p.Arg13Gln)
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NM_000975.5(RPL11):c.396+20del
|
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NM_000975.5(RPL11):c.397-11_397-10delinsAT
|
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NM_000975.5(RPL11):c.400C>A (p.Leu134Met)
|
rs1644529675
|
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NM_000975.5(RPL11):c.426A>G (p.Ala142=)
|
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NM_000975.5(RPL11):c.430AAG[1] (p.Lys145del)
|
|
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NM_000975.5(RPL11):c.431A>G (p.Lys144Arg)
|
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NM_000975.5(RPL11):c.437G>A (p.Arg146His)
|
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NM_000975.5(RPL11):c.437G>T (p.Arg146Leu)
|
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NM_000975.5(RPL11):c.438C>A (p.Arg146=)
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NM_000975.5(RPL11):c.463_508-69del
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NM_000975.5(RPL11):c.465_466del (p.His155fs)
|
rs1644530053
|
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NM_000975.5(RPL11):c.478G>C (p.Glu160Gln)
|
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|
NM_000975.5(RPL11):c.490C>T (p.Arg164Cys)
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NM_000975.5(RPL11):c.4G>T (p.Ala2Ser)
|
rs1553121574
|
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NM_000975.5(RPL11):c.504G>A (p.Gln168=)
|
|
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NM_000975.5(RPL11):c.507+16C>T
|
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NM_000975.5(RPL11):c.508-12C>G
|
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NM_000975.5(RPL11):c.508-20_508-17del
|
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NM_000975.5(RPL11):c.508-2A>G
|
rs1570569383
|
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NM_000975.5(RPL11):c.508-3C>G
|
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NM_000975.5(RPL11):c.508-7C>T
|
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NM_000975.5(RPL11):c.518T>A (p.Ile173Asn)
|
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NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del)
|
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NM_000975.5(RPL11):c.6+10T>A
|
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NM_000975.5(RPL11):c.6+12G>C
|
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NM_000975.5(RPL11):c.6+14A>G
|
rs376826360
|
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NM_000975.5(RPL11):c.6+15C>T
|
rs753341830
|
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|
NM_000975.5(RPL11):c.6+16C>G
|
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NM_000975.5(RPL11):c.6+18G>A
|
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NM_000975.5(RPL11):c.6+18_6+19delinsAT
|
rs2124428020
|
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NM_000975.5(RPL11):c.6+19G>C
|
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NM_000975.5(RPL11):c.6+20A>T
|
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NM_000975.5(RPL11):c.6+3G>A
|
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NM_000975.5(RPL11):c.6+8G>T
|
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NM_000975.5(RPL11):c.60C>G (p.Leu20=)
|
rs2124429060
|
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|
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
|
rs1570566590
|
|
|
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
|
rs1570566592
|
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|
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser)
|
rs2124429076
|
|
|
NM_000975.5(RPL11):c.7-10C>T
|
rs773406981
|
|
|
NM_000975.5(RPL11):c.7-19C>T
|
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NM_000975.5(RPL11):c.7-1G>T
|
rs1644507858
|
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NM_000975.5(RPL11):c.7-6T>G
|
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NM_000975.5(RPL11):c.7-7G>C
|
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NM_000975.5(RPL11):c.7-9C>T
|
rs558662093
|
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|
NM_000975.5(RPL11):c.75T>C (p.Cys25=)
|
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NM_000975.5(RPL11):c.7C>G (p.Gln3Glu)
|
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|
NM_000975.5(RPL11):c.87T>C (p.Ser29=)
|
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NM_000975.5(RPL11):c.94A>C (p.Arg32=)
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NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
|
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|
NM_000975.5(RPL11):c.9G>A (p.Gln3=)
|
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|
NM_000987.5(RPL26):c.105C>G (p.Ser35=)
|
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|
NM_000987.5(RPL26):c.107A>T (p.Lys36Ile)
|
|
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|
NM_000987.5(RPL26):c.130G>T (p.Val44Leu)
|
rs2151675473
|
|
|
NM_000987.5(RPL26):c.133C>G (p.Arg45Gly)
|
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|
NM_000987.5(RPL26):c.139A>G (p.Met47Val)
|
rs2151675468
|
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|
NM_000987.5(RPL26):c.145A>G (p.Ile49Val)
|
rs1193599772
|
|
|
NM_000987.5(RPL26):c.15C>G (p.Pro5=)
|
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|
NM_000987.5(RPL26):c.15C>T (p.Pro5=)
|
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|
NM_000987.5(RPL26):c.168+11C>G
|
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|
NM_000987.5(RPL26):c.168+15T>G
|
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|
NM_000987.5(RPL26):c.168+18T>G
|
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NM_000987.5(RPL26):c.168+4T>G
|
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|
NM_000987.5(RPL26):c.169-16T>C
|
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|
NM_000987.5(RPL26):c.169-19C>T
|
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|
NM_000987.5(RPL26):c.180A>G (p.Gly60=)
|
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|
NM_000987.5(RPL26):c.234T>C (p.Tyr78=)
|
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|
NM_000987.5(RPL26):c.243C>T (p.Tyr81=)
|
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|
NM_000987.5(RPL26):c.251G>C (p.Arg84Pro)
|
|
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|
NM_000987.5(RPL26):c.276C>A (p.Gly92=)
|
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|
NM_000987.5(RPL26):c.286C>T (p.His96Tyr)
|
|
|
|
NM_000987.5(RPL26):c.29A>C (p.Asp10Ala)
|
|
|
|
NM_000987.5(RPL26):c.300C>T (p.His100=)
|
|
|
|
NM_000987.5(RPL26):c.309+13G>T
|
|
|
|
NM_000987.5(RPL26):c.309+13_309+14delinsCT
|
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|
|
NM_000987.5(RPL26):c.309+18T>C
|
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|
NM_000987.5(RPL26):c.309+7G>T
|
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|
|
NM_000987.5(RPL26):c.310-16dup
|
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|
|
NM_000987.5(RPL26):c.313G>A (p.Val105Ile)
|
|
|
|
NM_000987.5(RPL26):c.332T>C (p.Leu111Pro)
|
|
|
|
NM_000987.5(RPL26):c.349A>C (p.Lys117Gln)
|
|
|
|
NM_000987.5(RPL26):c.352A>T (p.Ile118Phe)
|
|
|
|
NM_000987.5(RPL26):c.357C>G (p.Leu119=)
|
|
|
|
NM_000987.5(RPL26):c.359A>G (p.Glu120Gly)
|
rs1907207139
|
|
|
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp)
|
rs763691423
|
|
|
NM_000987.5(RPL26):c.369C>T (p.Ala123=)
|
|
|
|
NM_000987.5(RPL26):c.371A>C (p.Lys124Thr)
|
|
|
|
NM_000987.5(RPL26):c.377G>A (p.Arg126His)
|
rs932068728
|
|
|
NM_000987.5(RPL26):c.377G>C (p.Arg126Pro)
|
|
|
|
NM_000987.5(RPL26):c.382G>A (p.Val128Ile)
|
|
|
|
NM_000987.5(RPL26):c.384A>T (p.Val128=)
|
rs201307266
|
|
|
NM_000987.5(RPL26):c.388A>G (p.Lys130Glu)
|
|
|
|
NM_000987.5(RPL26):c.408G>A (p.Lys136=)
|
|
|
|
NM_000987.5(RPL26):c.416C>T (p.Thr139Ile)
|
|
|
|
NM_000987.5(RPL26):c.426G>A (p.Lys142=)
|
|
|
|
NM_000987.5(RPL26):c.436T>G (p.Ter146Glu)
|
|
|
|
NM_000987.5(RPL26):c.44G>T (p.Arg15Leu)
|
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|
|
NM_000987.5(RPL26):c.45C>T (p.Arg15=)
|
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|
|
NM_000987.5(RPL26):c.58A>G (p.Asn20Asp)
|
|
|
|
NM_000987.5(RPL26):c.72C>T (p.His24=)
|
|
|
|
NM_000987.5(RPL26):c.83A>G (p.Lys28Arg)
|
|
|
|
NM_000996.4(RPL35A):c.105C>T (p.Ala35=)
|
|
|
|
NM_000996.4(RPL35A):c.109G>A (p.Asp37Asn)
|
rs1401367420
|
|
|
NM_000996.4(RPL35A):c.11+4C>T
|
|
|
|
NM_000996.4(RPL35A):c.11+6C>A
|
|
|
|
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)
|
rs1560120302
|
|
|
NM_000996.4(RPL35A):c.12-10del
|
rs765692254
|
|
|
NM_000996.4(RPL35A):c.12-18G>T
|
|
|
|
NM_000996.4(RPL35A):c.12-4T>G
|
|
|
|
NM_000996.4(RPL35A):c.12-5C>T
|
|
|
|
NM_000996.4(RPL35A):c.12-7G>T
|
rs2109804559
|
|
|
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
|
|
|
|
NM_000996.4(RPL35A):c.138A>G (p.Arg46=)
|
|
|
|
NM_000996.4(RPL35A):c.147T>C (p.Tyr49=)
|
|
|
|
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)
|
|
|
|
NM_000996.4(RPL35A):c.158C>G (p.Ala53Gly)
|
|
|
|
NM_000996.4(RPL35A):c.162G>T (p.Lys54Asn)
|
|
|
|
NM_000996.4(RPL35A):c.164+13C>T
|
rs2109805109
|
|
|
NM_000996.4(RPL35A):c.164+15C>G
|
rs890177445
|
|
|
NM_000996.4(RPL35A):c.164+15C>T
|
|
|
|
NM_000996.4(RPL35A):c.164+1G>A
|
rs113752862
|
|
|
NM_000996.4(RPL35A):c.165-15C>G
|
|
|
|
NM_000996.4(RPL35A):c.165-20C>T
|
|
|
|
NM_000996.4(RPL35A):c.183C>T (p.Gly61=)
|
rs370212853
|
|
|
NM_000996.4(RPL35A):c.184G>A (p.Gly62Ser)
|
|
|
|
NM_000996.4(RPL35A):c.186C>T (p.Gly62=)
|
|
|
|
NM_000996.4(RPL35A):c.202A>G (p.Arg68Gly)
|
|
|
|
NM_000996.4(RPL35A):c.204A>G (p.Arg68=)
|
|
|
|
NM_000996.4(RPL35A):c.209T>C (p.Ile70Thr)
|
|
|
|
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)
|
rs1553811551
|
|
|
NM_000996.4(RPL35A):c.253C>T (p.Arg85Cys)
|
|
|
|
NM_000996.4(RPL35A):c.258C>A (p.Ala86=)
|
|
|
|
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp)
|
rs1560123334
|
|
|
NM_000996.4(RPL35A):c.278C>T (p.Pro93Leu)
|
|
|
|
NM_000996.4(RPL35A):c.282T>C (p.Ala94=)
|
rs201018840
|
|
|
NM_000996.4(RPL35A):c.282T>G (p.Ala94=)
|
|
|
|
NM_000996.4(RPL35A):c.289A>G (p.Ile97Val)
|
|
|
|
NM_000996.4(RPL35A):c.301A>G (p.Ile101Val)
|
|
|
|
NM_000996.4(RPL35A):c.309+3G>C
|
|
|
|
NM_000996.4(RPL35A):c.309+4A>T
|
rs1270507770
|
|
|
NM_000996.4(RPL35A):c.309+7A>G
|
|
|
|
NM_000996.4(RPL35A):c.310-20G>A
|
rs200360699
|
|
|
NM_000996.4(RPL35A):c.310-20G>C
|
rs200360699
|
|
|
NM_000996.4(RPL35A):c.310-6del
|
rs2109818917
|
|
|
NM_000996.4(RPL35A):c.320C>T (p.Pro107Leu)
|
rs2109818973
|
|
|
NM_000996.4(RPL35A):c.321C>T (p.Pro107=)
|
|
|
|
NM_000996.4(RPL35A):c.324A>G (p.Ser108=)
|
rs751160471
|
|
|
NM_000996.4(RPL35A):c.332A>G (p.Ter111=)
|
|
|
|
NM_000996.4(RPL35A):c.33T>C (p.Phe11=)
|
rs751752645
|
|
|
NM_000996.4(RPL35A):c.44A>G (p.Lys15Arg)
|
|
|
|
NM_000996.4(RPL35A):c.75A>G (p.Thr25=)
|
rs1244935223
|
|
|
NM_000996.4(RPL35A):c.77C>T (p.Ala26Val)
|
rs2109804811
|
|
|
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)
|
rs116840807
|
|
|
NM_000996.4(RPL35A):c.85A>G (p.Lys29Glu)
|
|
|
|
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr)
|
rs1720051488
|
|
|
NM_000996.4(RPL35A):c.90T>C (p.Ile30=)
|
rs2109804838
|
|
|
NM_001011.4(RPS7):c.-19+1G>T
|
|
|
|
NM_001011.4(RPS7):c.-19+2T>A
|
|
|
|
NM_001011.4(RPS7):c.105C>T (p.Asp35=)
|
|
|
|
NM_001011.4(RPS7):c.113C>T (p.Ala38Val)
|
rs929660330
|
|
|
NM_001011.4(RPS7):c.118C>G (p.Leu40Val)
|
|
|
|
NM_001011.4(RPS7):c.118C>T (p.Leu40Phe)
|
|
|
|
NM_001011.4(RPS7):c.120C>A (p.Leu40=)
|
|
|
|
NM_001011.4(RPS7):c.129G>A (p.Leu43=)
|
|
|
|
NM_001011.4(RPS7):c.133A>G (p.Ile45Val)
|
rs1661264441
|
|
|
NM_001011.4(RPS7):c.142G>T (p.Ala48Ser)
|
|
|
|
NM_001011.4(RPS7):c.147+14C>A
|
|
|
|
NM_001011.4(RPS7):c.147+15C>T
|
|
|
|
NM_001011.4(RPS7):c.147+16C>T
|
rs912491105
|
|
|
NM_001011.4(RPS7):c.147+5G>C
|
|
|
|
NM_001011.4(RPS7):c.147+6C>T
|
rs760987417
|
|
|
NM_001011.4(RPS7):c.147+7T>C
|
|
|
|
NM_001011.4(RPS7):c.147+8G>A
|
rs2147819351
|
|
|
NM_001011.4(RPS7):c.148-19T>A
|
|
|
|
NM_001011.4(RPS7):c.148-20A>C
|
|
|
|
NM_001011.4(RPS7):c.148-20A>G
|
|
|
|
NM_001011.4(RPS7):c.148-7_148-6delinsAA
|
|
|
|
NM_001011.4(RPS7):c.148-7del
|
|
|
|
NM_001011.4(RPS7):c.14G>A (p.Ser5Asn)
|
rs2147819095
|
|
|
NM_001011.4(RPS7):c.156A>C (p.Glu52Asp)
|
rs1178926489
|
|
|
NM_001011.4(RPS7):c.157G>A (p.Val53Ile)
|
rs144178741
|
|
|
NM_001011.4(RPS7):c.169C>T (p.Arg57Trp)
|
rs756780024
|
|
|
NM_001011.4(RPS7):c.177T>C (p.Ala59=)
|
|
|
|
NM_001011.4(RPS7):c.178A>G (p.Ile60Val)
|
|
|
|
NM_001011.4(RPS7):c.204A>G (p.Gln68=)
|
|
|
|
NM_001011.4(RPS7):c.216C>T (p.Phe72=)
|
rs781328965
|
|
|
NM_001011.4(RPS7):c.230T>C (p.Val77Ala)
|
|
|
|
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
|
|
|
|
NM_001011.4(RPS7):c.238G>A (p.Val80Ile)
|
|
|
|
NM_001011.4(RPS7):c.24C>A (p.Ile8=)
|
|
|
|
NM_001011.4(RPS7):c.24C>T (p.Ile8=)
|
|
|
|
NM_001011.4(RPS7):c.261C>T (p.Phe87=)
|
|
|
|
NM_001011.4(RPS7):c.263G>T (p.Ser88Ile)
|
rs2147819948
|
|
|
NM_001011.4(RPS7):c.273T>C (p.His91=)
|
rs1442216854
|
|
|
NM_001011.4(RPS7):c.274GTC[1] (p.Val93del)
|
rs1553342919
|
|
|
NM_001011.4(RPS7):c.276C>T (p.Val92=)
|
rs61730448
|
|
|
NM_001011.4(RPS7):c.277G>A (p.Val93Ile)
|
rs2147819964
|
|
|
NM_001011.4(RPS7):c.282T>A (p.Phe94Leu)
|
|
|
|
NM_001011.4(RPS7):c.291+19C>T
|
|
|
|
NM_001011.4(RPS7):c.292-7C>G
|
|
|
|
NM_001011.4(RPS7):c.292-8C>A
|
|
|
|
NM_001011.4(RPS7):c.292-8C>T
|
rs373405472
|
|
|
NM_001011.4(RPS7):c.292-9A>T
|
rs746941533
|
|
|
NM_001011.4(RPS7):c.311C>T (p.Pro104Leu)
|
rs1405342101
|
|
|
NM_001011.4(RPS7):c.31C>T (p.Pro11Ser)
|
rs1661256950
|
|
|
NM_001011.4(RPS7):c.333A>C (p.Lys111Asn)
|
|
|
|
NM_001011.4(RPS7):c.336T>C (p.Asn112=)
|
|
|
|
NM_001011.4(RPS7):c.34A>C (p.Asn12His)
|
rs1661257045
|
|
|
NM_001011.4(RPS7):c.356+6T>C
|
rs2147820884
|
|
|
NM_001011.4(RPS7):c.357-16dup
|
|
|
|
NM_001011.4(RPS7):c.357-20C>A
|
|
|
|
NM_001011.4(RPS7):c.357-3del
|
rs140914434
|
|
|
NM_001011.4(RPS7):c.357-3dup
|
rs140914434
|
|
|
NM_001011.4(RPS7):c.366G>A (p.Leu122=)
|
rs2147822425
|
|
|
NM_001011.4(RPS7):c.392A>T (p.Glu131Val)
|
|
|
|
NM_001011.4(RPS7):c.396C>T (p.Asp132=)
|
|
|
|
NM_001011.4(RPS7):c.405C>T (p.Phe135=)
|
|
|
|
NM_001011.4(RPS7):c.406C>G (p.Pro136Ala)
|
rs1661370560
|
|
|
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
|
|
|
|
NM_001011.4(RPS7):c.434G>A (p.Arg145His)
|
|
|
|
NM_001011.4(RPS7):c.444A>G (p.Leu148=)
|
|
|
|
NM_001011.4(RPS7):c.447T>C (p.Asp149=)
|
rs2147822460
|
|
|
NM_001011.4(RPS7):c.455G>C (p.Arg152Pro)
|
rs1241543942
|
|
|
NM_001011.4(RPS7):c.471T>C (p.His157=)
|
|
|
|
NM_001011.4(RPS7):c.479A>G (p.Lys160Arg)
|
|
|
|
NM_001011.4(RPS7):c.486G>A (p.Gln162=)
|
|
|
|
NM_001011.4(RPS7):c.49G>C (p.Asp17His)
|
|
|
|
NM_001011.4(RPS7):c.508-10T>C
|
|
|
|
NM_001011.4(RPS7):c.508-12C>G
|
rs2071639
|
|
|
NM_001011.4(RPS7):c.508-12_508-9del
|
rs747706059
|
|
|
NM_001011.4(RPS7):c.508-16C>A
|
|
|
|
NM_001011.4(RPS7):c.508-9_508-5del
|
|
|
|
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser)
|
rs1558474062
|
|
|
NM_001011.4(RPS7):c.519T>C (p.Phe173=)
|
rs1572360947
|
|
|
NM_001011.4(RPS7):c.520T>G (p.Ser174Ala)
|
rs1367450977
|
|
|
NM_001011.4(RPS7):c.521C>G (p.Ser174Cys)
|
rs14742
|
|
|
NM_001011.4(RPS7):c.539T>A (p.Leu180His)
|
rs1553343210
|
|
|
NM_001011.4(RPS7):c.542C>T (p.Thr181Met)
|
|
|
|
NM_001011.4(RPS7):c.545G>A (p.Gly182Asp)
|
|
|
|
NM_001011.4(RPS7):c.72C>T (p.Ser24=)
|
|
|
|
NM_001011.4(RPS7):c.75+1G>T
|
|
|
|
NM_001011.4(RPS7):c.75+8G>T
|
|
|
|
NM_001011.4(RPS7):c.76-12G>A
|
|
|
|
NM_001011.4(RPS7):c.76-12G>C
|
rs2147819267
|
|
|
NM_001011.4(RPS7):c.76-13C>G
|
|
|
|
NM_001011.4(RPS7):c.76-13C>T
|
|
|
|
NM_001011.4(RPS7):c.76-16G>A
|
rs767920442
|
|
|
NM_001011.4(RPS7):c.76-8C>G
|
|
|
|
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
|
|
|
|
NM_001011.4(RPS7):c.79C>T (p.Leu27Phe)
|
rs758369264
|
|
|
NM_001011.4(RPS7):c.81T>A (p.Leu27=)
|
|
|
|
NM_001011.4(RPS7):c.82C>T (p.Leu28=)
|
|
|
|
NM_001014.5(RPS10):c.106G>A (p.Ala36Thr)
|
|
|
|
NM_001014.5(RPS10):c.121C>A (p.Pro41Thr)
|
|
|
|
NM_001014.5(RPS10):c.136A>G (p.Met46Val)
|
|
|
|
NM_001014.5(RPS10):c.150+17G>A
|
|
|
|
NM_001014.5(RPS10):c.150+6_150+8del
|
|
|
|
NM_001014.5(RPS10):c.150+9del
|
rs372641476
|
|
|
NM_001014.5(RPS10):c.151-17A>G
|
|
|
|
NM_001014.5(RPS10):c.151-19G>A
|
|
|
|
NM_001014.5(RPS10):c.151-20A>G
|
|
|
|
NM_001014.5(RPS10):c.151-4A>G
|
|
|
|
NM_001014.5(RPS10):c.164G>T (p.Arg55Leu)
|
|
|
|
NM_001014.5(RPS10):c.165A>C (p.Arg55=)
|
|
|
|
NM_001014.5(RPS10):c.19A>T (p.Asn7Tyr)
|
|
|
|
NM_001014.5(RPS10):c.1A>G (p.Met1Val)
|
rs2113806114
|
|
|
NM_001014.5(RPS10):c.201C>T (p.Phe67=)
|
rs2113805419
|
|
|
NM_001014.5(RPS10):c.202T>C (p.Tyr68His)
|
|
|
|
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
|
rs1581931578
|
|
|
NM_001014.5(RPS10):c.222G>C (p.Glu74Asp)
|
|
|
|
NM_001014.5(RPS10):c.22C>T (p.Arg8Trp)
|
|
|
|
NM_001014.5(RPS10):c.26T>C (p.Ile9Thr)
|
|
|
|
NM_001014.5(RPS10):c.270G>A (p.Val90=)
|
|
|
|
NM_001014.5(RPS10):c.282_284dup (p.Arg96_Ser97insArg)
|
|
|
|
NM_001014.5(RPS10):c.285C>T (p.Arg95=)
|
|
|
|
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
|
rs1581931439
|
|
|
NM_001014.5(RPS10):c.288T>G (p.Arg96=)
|
|
|
|
NM_001014.5(RPS10):c.289_294dup (p.Arg98_Pro99insSerArg)
|
|
|
|
NM_001014.5(RPS10):c.291C>G (p.Ser97Arg)
|
|
|
|
NM_001014.5(RPS10):c.293G>A (p.Arg98His)
|
|
|
|
NM_001014.5(RPS10):c.294_314dup (p.Glu100_Pro106dup)
|
rs1765891593
|
|
|
NM_001014.5(RPS10):c.297A>G (p.Pro99=)
|
rs2113805269
|
|
|
NM_001014.5(RPS10):c.30C>A (p.Ala10=)
|
|
|
|
NM_001014.5(RPS10):c.313C>T (p.Arg105Trp)
|
|
|
|
NM_001014.5(RPS10):c.317C>T (p.Pro106Leu)
|
|
|
|
NM_001014.5(RPS10):c.322+13C>T
|
|
|
|
NM_001014.5(RPS10):c.322+15C>T
|
|
|
|
NM_001014.5(RPS10):c.322+17A>G
|
|
|
|
NM_001014.5(RPS10):c.322+3A>G
|
rs556255412
|
|
|
NM_001014.5(RPS10):c.323-18G>A
|
|
|
|
NM_001014.5(RPS10):c.323-19T>C
|
rs1765779305
|
|
|
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)
|
rs267607022
|
|
|
NM_001014.5(RPS10):c.344C>T (p.Ala115Val)
|
|
|
|
NM_001014.5(RPS10):c.345G>A (p.Ala115=)
|
|
|
|
NM_001014.5(RPS10):c.34T>C (p.Tyr12His)
|
rs2113806064
|
|
|
NM_001014.5(RPS10):c.357A>G (p.Arg119=)
|
|
|
|
NM_001014.5(RPS10):c.371G>A (p.Arg124Lys)
|
rs757956413
|
|
|
NM_001014.5(RPS10):c.385C>T (p.Arg129Trp)
|
rs752436029
|
|
|
NM_001014.5(RPS10):c.400+13A>G
|
|
|
|
NM_001014.5(RPS10):c.400+19dup
|
|
|
|
NM_001014.5(RPS10):c.400+20A>G
|
|
|
|
NM_001014.5(RPS10):c.401-10dup
|
|
|
|
NM_001014.5(RPS10):c.401-11dup
|
|
|
|
NM_001014.5(RPS10):c.401-16A>T
|
|
|
|
NM_001014.5(RPS10):c.401-2A>G
|
rs1765648528
|
|
|
NM_001014.5(RPS10):c.403G>T (p.Gly135Cys)
|
|
|
|
NM_001014.5(RPS10):c.408C>A (p.Ala136=)
|
rs147566753
|
|
|
NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)
|
|
|
|
NM_001014.5(RPS10):c.420C>T (p.Ala140=)
|
|
|
|
NM_001014.5(RPS10):c.456+3_456+6del
|
rs1765647224
|
|
|
NM_001014.5(RPS10):c.457-6T>C
|
rs2113793989
|
|
|
NM_001014.5(RPS10):c.457A>G (p.Arg153Gly)
|
|
|
|
NM_001014.5(RPS10):c.462C>T (p.Gly154=)
|
|
|
|
NM_001014.5(RPS10):c.463G>A (p.Gly155Arg)
|
|
|
|
NM_001014.5(RPS10):c.471T>A (p.Gly157=)
|
|
|
|
NM_001014.5(RPS10):c.473G>A (p.Arg158His)
|
|
|
|
NM_001014.5(RPS10):c.481G>T (p.Gly161Cys)
|
|
|
|
NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)
|
|
|
|
NM_001014.5(RPS10):c.98C>T (p.Pro33Leu)
|
|
|
|
NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg)
|
|
|
|
NM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg)
|
rs2147429068
|
|
|
NM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu)
|
|
|
|
NM_001018113.3(FANCB):c.1021G>A (p.Val341Ile)
|
rs2092436307
|
|
|
NM_001018113.3(FANCB):c.1062G>A (p.Leu354=)
|
|
|
|
NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile)
|
|
|
|
NM_001018113.3(FANCB):c.1068A>G (p.Ser356=)
|
|
|
|
NM_001018113.3(FANCB):c.1080G>A (p.Thr360=)
|
|
|
|
NM_001018113.3(FANCB):c.1080G>C (p.Thr360=)
|
rs754983238
|
|
|
NM_001018113.3(FANCB):c.1104+10A>G
|
|
|
|
NM_001018113.3(FANCB):c.1104+11T>C
|
|
|
|
NM_001018113.3(FANCB):c.1104+18A>C
|
|
|
|
NM_001018113.3(FANCB):c.1104+20T>G
|
|
|
|
NM_001018113.3(FANCB):c.1104+20_1104+22del
|
|
|
|
NM_001018113.3(FANCB):c.1104+4A>G
|
rs1555906676
|
|
|
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=)
|
|
|
|
NM_001018113.3(FANCB):c.1105-16T>A
|
|
|
|
NM_001018113.3(FANCB):c.1105-26TATT[4]
|
rs398123537
|
|
|
NM_001018113.3(FANCB):c.1105-26TATT[5]
|
rs398123537
|
|
|
NM_001018113.3(FANCB):c.1105-26TATT[7]
|
rs398123537
|
|
|
NM_001018113.3(FANCB):c.1105-5A>G
|
|
|
|
NM_001018113.3(FANCB):c.1105-7T>G
|
|
|
|
NM_001018113.3(FANCB):c.1105-9A>T
|
|
|
|
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)
|
|
|
|
NM_001018113.3(FANCB):c.1110A>G (p.Glu370=)
|
|
|
|
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)
|
rs2147425036
|
|
|
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala)
|
rs1569088991
|
|
|
NM_001018113.3(FANCB):c.1134C>T (p.Asp378=)
|
|
|
|
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
|
|
|
|
NM_001018113.3(FANCB):c.1167G>T (p.Leu389=)
|
|
|
|
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
|
|
|
|
NM_001018113.3(FANCB):c.1182A>G (p.Leu394=)
|
|
|
|
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)
|
|
|
|
NM_001018113.3(FANCB):c.1191A>G (p.Gly397=)
|
rs2147424764
|
|
|
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)
|
|
|
|
NM_001018113.3(FANCB):c.1197+10T>C
|
|
|
|
NM_001018113.3(FANCB):c.1197+11G>A
|
rs2147424729
|
|
|
NM_001018113.3(FANCB):c.1197+13_1197+15del
|
rs2147424707
|
|
|
NM_001018113.3(FANCB):c.1197+19_1197+21del
|
rs755825913
|
|
|
NM_001018113.3(FANCB):c.1197+8T>C
|
|
|
|
NM_001018113.3(FANCB):c.1198-3C>T
|
|
|
|
NM_001018113.3(FANCB):c.1212T>G (p.Ser404=)
|
|
|
|
NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu)
|
|
|
|
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)
|
rs1364046604
|
|
|
NM_001018113.3(FANCB):c.1234C>T (p.Leu412=)
|
|
|
|
NM_001018113.3(FANCB):c.123C>T (p.Pro41=)
|
|
|
|
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)
|
|
|
|
NM_001018113.3(FANCB):c.1251A>G (p.Lys417=)
|
|
|
|
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)
|
|
|
|
NM_001018113.3(FANCB):c.1257T>C (p.Ile419=)
|
rs1601989714
|
|
|
NM_001018113.3(FANCB):c.1269C>T (p.Tyr423=)
|
|
|
|
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile)
|
rs1018343095
|
|
|
NM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del)
|
|
|
|
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly)
|
|
|
|
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)
|
rs776802337
|
|
|
NM_001018113.3(FANCB):c.131A>C (p.His44Pro)
|
rs2092464968
|
|
|
NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala)
|
rs2092408275
|
|
|
NM_001018113.3(FANCB):c.1326+13A>G
|
|
|
|
NM_001018113.3(FANCB):c.1326+13_1326+14del
|
|
|
|
NM_001018113.3(FANCB):c.1326+16T>C
|
rs747443650
|
|
|
NM_001018113.3(FANCB):c.1326+18A>G
|
|
|
|
NM_001018113.3(FANCB):c.1326+7G>C
|
|
|
|
NM_001018113.3(FANCB):c.1326+7del
|
|
|
|
NM_001018113.3(FANCB):c.1327-10T>A
|
|
|
|
NM_001018113.3(FANCB):c.1327-12dup
|
rs202067682
|
|
|
NM_001018113.3(FANCB):c.1327-17T>G
|
|
|
|
NM_001018113.3(FANCB):c.1327-19_1327-16del
|
rs766440560
|
|
|
NM_001018113.3(FANCB):c.1327-3del
|
rs202067682
|
|
|
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser)
|
rs867778700
|
|
|
NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile)
|
|
|
|
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr)
|
rs1601985554
|
|
|
NM_001018113.3(FANCB):c.1373A>G (p.His458Arg)
|
|
|
|
NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr)
|
|
|
|
NM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu)
|
|
|
|
NM_001018113.3(FANCB):c.1407A>G (p.Gln469=)
|
rs2092396901
|
|
|
NM_001018113.3(FANCB):c.1428G>A (p.Glu476=)
|
|
|
|
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)
|
rs2147404831
|
|
|
NM_001018113.3(FANCB):c.1440T>C (p.Tyr480=)
|
|
|
|
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg)
|
rs2092396657
|
|
|
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala)
|
rs1601985311
|
|
|
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)
|
rs993307430
|
|
|
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe)
|
rs993307430
|
|
|
NM_001018113.3(FANCB):c.1496+10T>C
|
|
|
|
NM_001018113.3(FANCB):c.1496+14A>G
|
|
|
|
NM_001018113.3(FANCB):c.1496+16C>A
|
|
|
|
NM_001018113.3(FANCB):c.1496+18dup
|
|
|
|
NM_001018113.3(FANCB):c.1496+19_1496+21del
|
|
|
|
NM_001018113.3(FANCB):c.1496+8A>T
|
|
|
|
NM_001018113.3(FANCB):c.1497-12G>T
|
|
|
|
NM_001018113.3(FANCB):c.1497-18del
|
|
|
|
NM_001018113.3(FANCB):c.1497-20A>G
|
|
|
|
NM_001018113.3(FANCB):c.1497G>T (p.Leu499=)
|
|
|
|
NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val)
|
rs2147391420
|
|
|
NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)
|
|
|
|
NM_001018113.3(FANCB):c.1521A>G (p.Ser507=)
|
|
|
|
NM_001018113.3(FANCB):c.1521A>T (p.Ser507=)
|
|
|
|
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)
|
|
|
|
NM_001018113.3(FANCB):c.153C>T (p.Asp51=)
|
|
|
|
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg)
|
rs1555904475
|
|
|
NM_001018113.3(FANCB):c.1542T>C (p.His514=)
|
|
|
|
NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly)
|
|
|
|
NM_001018113.3(FANCB):c.1563A>G (p.Leu521=)
|
|
|
|
NM_001018113.3(FANCB):c.1566G>A (p.Lys522=)
|
rs2092371545
|
|
|
NM_001018113.3(FANCB):c.1569T>C (p.Cys523=)
|
|
|
|
NM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser)
|
|
|
|
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met)
|
|
|
|
NM_001018113.3(FANCB):c.1581G>T (p.Val527=)
|
|
|
|
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)
|
|
|
|
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu)
|
rs1555904458
|
|
|
NM_001018113.3(FANCB):c.1611A>G (p.Ala537=)
|
|
|
|
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg)
|
rs2147391147
|
|
|
NM_001018113.3(FANCB):c.1614A>G (p.Pro538=)
|
|
|
|
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)
|
rs2147391126
|
|
|
NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=)
|
|
|
|
NM_001018113.3(FANCB):c.1620G>A (p.Leu540=)
|
|
|
|
NM_001018113.3(FANCB):c.1626A>G (p.Pro542=)
|
rs1277532078
|
|
|
NM_001018113.3(FANCB):c.1654G>T (p.Val552Phe)
|
|
|
|
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala)
|
rs1569083698
|
|
|
NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile)
|
rs2092370867
|
|
|
NM_001018113.3(FANCB):c.1683G>A (p.Glu561=)
|
|
|
|
NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala)
|
|
|
|
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr)
|
rs5935815
|
|
|
NM_001018113.3(FANCB):c.1701A>G (p.Glu567=)
|
|
|
|
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro)
|
rs2092370560
|
|
|
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=)
|
rs1555904427
|
|
|
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)
|
|
|
|
NM_001018113.3(FANCB):c.171T>C (p.Phe57=)
|
|
|
|
NM_001018113.3(FANCB):c.1725A>G (p.Val575=)
|
|
|
|
NM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu)
|
|
|
|
NM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg)
|
|
|
|
NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu)
|
|
|
|
NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)
|
|
|
|
NM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala)
|
|
|
|
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=)
|
rs964099207
|
|
|
NM_001018113.3(FANCB):c.177G>A (p.Gln59=)
|
rs1602006672
|
|
|
NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn)
|
|
|
|
NM_001018113.3(FANCB):c.1788T>C (p.Thr596=)
|
|
|
|
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=)
|
rs2147390430
|
|
|
NM_001018113.3(FANCB):c.1818T>C (p.Ser606=)
|
|
|
|
NM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser)
|
|
|
|
NM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)
|
rs144764663
|
|
|
NM_001018113.3(FANCB):c.1840T>C (p.Tyr614His)
|
|
|
|
NM_001018113.3(FANCB):c.1858G>A (p.Val620Ile)
|
rs2092369531
|
|
|
NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser)
|
|
|
|
NM_001018113.3(FANCB):c.1872A>C (p.Leu624=)
|
|
|
|
NM_001018113.3(FANCB):c.1887T>G (p.Thr629=)
|
|
|
|
NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=)
|
|
|
|
NM_001018113.3(FANCB):c.1927+13G>C
|
|
|
|
NM_001018113.3(FANCB):c.1927+16C>T
|
|
|
|
NM_001018113.3(FANCB):c.1927+8T>A
|
|
|
|
NM_001018113.3(FANCB):c.1927+9del
|
|
|
|
NM_001018113.3(FANCB):c.1928-5del
|
|
|
|
NM_001018113.3(FANCB):c.1928-5dup
|
|
|
|
NM_001018113.3(FANCB):c.1928-6_1928-5del
|
|
|
|
NM_001018113.3(FANCB):c.192T>C (p.Phe64=)
|
|
|
|
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)
|
|
|
|
NM_001018113.3(FANCB):c.1950A>G (p.Ala650=)
|
|
|
|
NM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg)
|
rs2092368529
|
|
|
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu)
|
rs1555904350
|
|
|
NM_001018113.3(FANCB):c.1992A>T (p.Ser664=)
|
rs2147389619
|
|
|
NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser)
|
|
|
|
NM_001018113.3(FANCB):c.2020G>A (p.Val674Met)
|
|
|
|
NM_001018113.3(FANCB):c.2020G>C (p.Val674Leu)
|
rs2092368233
|
|
|
NM_001018113.3(FANCB):c.2021T>C (p.Val674Ala)
|
|
|
|
NM_001018113.3(FANCB):c.2035C>T (p.His679Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg)
|
rs2147447567
|
|
|
NM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys)
|
rs2147389460
|
|
|
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
|
|
|
|
NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met)
|
|
|
|
NM_001018113.3(FANCB):c.207A>G (p.Glu69=)
|
|
|
|
NM_001018113.3(FANCB):c.2091G>A (p.Pro697=)
|
|
|
|
NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)
|
|
|
|
NM_001018113.3(FANCB):c.2100C>T (p.Phe700=)
|
|
|
|
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser)
|
rs2092367669
|
|
|
NM_001018113.3(FANCB):c.2109A>G (p.Thr703=)
|
rs1555904303
|
|
|
NM_001018113.3(FANCB):c.2112C>T (p.Leu704=)
|
|
|
|
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu)
|
rs1060501875
|
|
|
NM_001018113.3(FANCB):c.2136A>G (p.Pro712=)
|
|
|
|
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)
|
|
|
|
NM_001018113.3(FANCB):c.2139C>T (p.Phe713=)
|
|
|
|
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys)
|
rs868748586
|
|
|
NM_001018113.3(FANCB):c.2142A>G (p.Glu714=)
|
rs2147389159
|
|
|
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met)
|
rs2092367373
|
|
|
NM_001018113.3(FANCB):c.2165+12T>G
|
|
|
|
NM_001018113.3(FANCB):c.2165+18G>A
|
|
|
|
NM_001018113.3(FANCB):c.2165+18G>T
|
|
|
|
NM_001018113.3(FANCB):c.2165+6G>A
|
|
|
|
NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met)
|
|
|
|
NM_001018113.3(FANCB):c.2166-14T>C
|
|
|
|
NM_001018113.3(FANCB):c.2166-15_2166-12del
|
|
|
|
NM_001018113.3(FANCB):c.2166-8del
|
|
|
|
NM_001018113.3(FANCB):c.2166-9T>C
|
rs2147387583
|
|
|
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser)
|
rs1300715683
|
|
|
NM_001018113.3(FANCB):c.2190C>T (p.Cys730=)
|
|
|
|
NM_001018113.3(FANCB):c.2193T>G (p.Leu731=)
|
rs2147387445
|
|
|
NM_001018113.3(FANCB):c.2195A>G (p.His732Arg)
|
|
|
|
NM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del)
|
|
|
|
NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)
|
|
|
|
NM_001018113.3(FANCB):c.2214C>A (p.Leu738=)
|
|
|
|
NM_001018113.3(FANCB):c.2214C>G (p.Leu738=)
|
|
|
|
NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr)
|
|
|
|
NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile)
|
|
|
|
NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys)
|
|
|
|
NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.2229C>T (p.Phe743=)
|
|
|
|
NM_001018113.3(FANCB):c.2238T>C (p.Asn746=)
|
|
|
|
NM_001018113.3(FANCB):c.2241A>C (p.Leu747=)
|
rs2147387279
|
|
|
NM_001018113.3(FANCB):c.2244A>G (p.Lys748=)
|
|
|
|
NM_001018113.3(FANCB):c.2271T>C (p.Asp757=)
|
|
|
|
NM_001018113.3(FANCB):c.2275A>G (p.Met759Val)
|
|
|
|
NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr)
|
|
|
|
NM_001018113.3(FANCB):c.2280A>T (p.Ala760=)
|
|
|
|
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)
|
|
|
|
NM_001018113.3(FANCB):c.2299C>T (p.Leu767=)
|
|
|
|
NM_001018113.3(FANCB):c.229A>G (p.Met77Val)
|
|
|
|
NM_001018113.3(FANCB):c.2301A>G (p.Leu767=)
|
|
|
|
NM_001018113.3(FANCB):c.2322T>G (p.Ser774=)
|
|
|
|
NM_001018113.3(FANCB):c.2328C>T (p.Ala776=)
|
|
|
|
NM_001018113.3(FANCB):c.2329A>G (p.Ile777Val)
|
rs776505971
|
|
|
NM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr)
|
|
|
|
NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met)
|
rs1326031344
|
|
|
NM_001018113.3(FANCB):c.2340T>C (p.His780=)
|
|
|
|
NM_001018113.3(FANCB):c.2353A>G (p.Met785Val)
|
|
|
|
NM_001018113.3(FANCB):c.2359A>C (p.Arg787=)
|
|
|
|
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)
|
rs879254329
|
|
|
NM_001018113.3(FANCB):c.2361G>A (p.Arg787=)
|
|
|
|
NM_001018113.3(FANCB):c.2370G>A (p.Val790=)
|
|
|
|
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly)
|
rs2147386876
|
|
|
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
|
rs2092363086
|
|
|
NM_001018113.3(FANCB):c.2391C>G (p.Val797=)
|
rs778731279
|
|
|
NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr)
|
|
|
|
NM_001018113.3(FANCB):c.2397G>A (p.Ala799=)
|
|
|
|
NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu)
|
|
|
|
NM_001018113.3(FANCB):c.2404T>C (p.Leu802=)
|
|
|
|
NM_001018113.3(FANCB):c.2406A>G (p.Leu802=)
|
|
|
|
NM_001018113.3(FANCB):c.2415A>G (p.Arg805=)
|
|
|
|
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr)
|
rs2147386628
|
|
|
NM_001018113.3(FANCB):c.2433C>G (p.Pro811=)
|
rs2147386620
|
|
|
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser)
|
rs748392793
|
|
|
NM_001018113.3(FANCB):c.2439A>G (p.Arg813=)
|
|
|
|
NM_001018113.3(FANCB):c.245T>C (p.Val82Ala)
|
rs2147447420
|
|
|
NM_001018113.3(FANCB):c.2467A>G (p.Met823Val)
|
|
|
|
NM_001018113.3(FANCB):c.2470T>G (p.Leu824Val)
|
rs1601976122
|
|
|
NM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys)
|
rs201436396
|
|
|
NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)
|
|
|
|
NM_001018113.3(FANCB):c.2496T>A (p.Gly832=)
|
|
|
|
NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys)
|
|
|
|
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)
|
|
|
|
NM_001018113.3(FANCB):c.2520G>A (p.Leu840=)
|
|
|
|
NM_001018113.3(FANCB):c.2526A>T (p.Val842=)
|
|
|
|
NM_001018113.3(FANCB):c.2539T>C (p.Leu847=)
|
|
|
|
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu)
|
rs759020755
|
|
|
NM_001018113.3(FANCB):c.2556T>C (p.Ala852=)
|
|
|
|
NM_001018113.3(FANCB):c.2562G>A (p.Gln854=)
|
|
|
|
NM_001018113.3(FANCB):c.2565A>G (p.Lys855=)
|
|
|
|
NM_001018113.3(FANCB):c.2575T>C (p.Leu859=)
|
|
|
|
NM_001018113.3(FANCB):c.2577A>G (p.Leu859=)
|
|
|
|
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
|
|
|
|
NM_001018113.3(FANCB):c.273C>T (p.Leu91=)
|
|
|
|
NM_001018113.3(FANCB):c.291A>G (p.Glu97=)
|
|
|
|
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu)
|
rs2092464184
|
|
|
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)
|
|
|
|
NM_001018113.3(FANCB):c.300A>G (p.Lys100=)
|
|
|
|
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)
|
rs2147447239
|
|
|
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys)
|
rs750078094
|
|
|
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys)
|
rs750078094
|
|
|
NM_001018113.3(FANCB):c.30C>T (p.Asn10=)
|
|
|
|
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val)
|
|
|
|
NM_001018113.3(FANCB):c.339C>T (p.His113=)
|
|
|
|
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr)
|
rs1057515811
|
|
|
NM_001018113.3(FANCB):c.360G>A (p.Met120Ile)
|
|
|
|
NM_001018113.3(FANCB):c.372T>C (p.Phe124=)
|
|
|
|
NM_001018113.3(FANCB):c.376C>T (p.Leu126=)
|
rs1602006225
|
|
|
NM_001018113.3(FANCB):c.378A>G (p.Leu126=)
|
|
|
|
NM_001018113.3(FANCB):c.381C>T (p.Gly127=)
|
|
|
|
NM_001018113.3(FANCB):c.388A>T (p.Met130Leu)
|
|
|
|
NM_001018113.3(FANCB):c.408C>T (p.Val136=)
|
|
|
|
NM_001018113.3(FANCB):c.417C>A (p.Gly139=)
|
|
|
|
NM_001018113.3(FANCB):c.417C>G (p.Gly139=)
|
|
|
|
NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu)
|
|
|
|
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)
|
|
|
|
NM_001018113.3(FANCB):c.41G>C (p.Arg14Thr)
|
|
|
|
NM_001018113.3(FANCB):c.434G>C (p.Arg145Thr)
|
|
|
|
NM_001018113.3(FANCB):c.439G>A (p.Val147Ile)
|
|
|
|
NM_001018113.3(FANCB):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_001018113.3(FANCB):c.447A>G (p.Ala149=)
|
|
|
|
NM_001018113.3(FANCB):c.447A>T (p.Ala149=)
|
|
|
|
NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu)
|
rs2092463362
|
|
|
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
|
|
|
|
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)
|
|
|
|
NM_001018113.3(FANCB):c.468A>G (p.Gln156=)
|
|
|
|
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)
|
|
|
|
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn)
|
rs1569092592
|
|
|
NM_001018113.3(FANCB):c.480T>A (p.Val160=)
|
|
|
|
NM_001018113.3(FANCB):c.483T>C (p.Val161=)
|
|
|
|
NM_001018113.3(FANCB):c.484A>C (p.Ser162Arg)
|
rs2147446679
|
|
|
NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro)
|
|
|
|
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp)
|
|
|
|
NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg)
|
|
|
|
NM_001018113.3(FANCB):c.501T>C (p.Phe167=)
|
|
|
|
NM_001018113.3(FANCB):c.506C>T (p.Ser169Phe)
|
|
|
|
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val)
|
rs138251388
|
|
|
NM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe)
|
|
|
|
NM_001018113.3(FANCB):c.554G>T (p.Gly185Val)
|
|
|
|
NM_001018113.3(FANCB):c.560A>G (p.Lys187Arg)
|
|
|
|
NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr)
|
rs2147446437
|
|
|
NM_001018113.3(FANCB):c.591T>G (p.Thr197=)
|
|
|
|
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)
|
rs2092462570
|
|
|
NM_001018113.3(FANCB):c.603A>C (p.Ser201=)
|
|
|
|
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)
|
|
|
|
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)
|
|
|
|
NM_001018113.3(FANCB):c.615T>C (p.Tyr205=)
|
|
|
|
NM_001018113.3(FANCB):c.628A>G (p.Thr210Ala)
|
rs2092462421
|
|
|
NM_001018113.3(FANCB):c.634T>C (p.Phe212Leu)
|
rs2147446219
|
|
|
NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys)
|
|
|
|
NM_001018113.3(FANCB):c.64G>A (p.Val22Ile)
|
|
|
|
NM_001018113.3(FANCB):c.659A>G (p.Gln220Arg)
|
|
|
|
NM_001018113.3(FANCB):c.664G>A (p.Val222Ile)
|
rs2147446099
|
|
|
NM_001018113.3(FANCB):c.666A>G (p.Val222=)
|
|
|
|
NM_001018113.3(FANCB):c.681C>T (p.Tyr227=)
|
|
|
|
NM_001018113.3(FANCB):c.699C>T (p.Tyr233=)
|
|
|
|
NM_001018113.3(FANCB):c.702C>T (p.Ser234=)
|
|
|
|
NM_001018113.3(FANCB):c.706G>A (p.Val236Met)
|
rs746389250
|
|
|
NM_001018113.3(FANCB):c.708G>A (p.Val236=)
|
rs2147445876
|
|
|
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe)
|
rs1555907444
|
|
|
NM_001018113.3(FANCB):c.720A>G (p.Val240=)
|
|
|
|
NM_001018113.3(FANCB):c.722A>G (p.His241Arg)
|
rs2147445804
|
|
|
NM_001018113.3(FANCB):c.735T>C (p.Thr245=)
|
|
|
|
NM_001018113.3(FANCB):c.744C>A (p.Ile248=)
|
|
|
|
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val)
|
|
|
|
NM_001018113.3(FANCB):c.774C>G (p.Ala258=)
|
rs1168908937
|
|
|
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)
|
|
|
|
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)
|
|
|
|
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)
|
rs2147445599
|
|
|
NM_001018113.3(FANCB):c.795G>A (p.Leu265=)
|
|
|
|
NM_001018113.3(FANCB):c.795G>T (p.Leu265=)
|
|
|
|
NM_001018113.3(FANCB):c.834G>C (p.Gln278His)
|
rs1569092087
|
|
|
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
|
|
|
|
NM_001018113.3(FANCB):c.852T>C (p.Pro284=)
|
|
|
|
NM_001018113.3(FANCB):c.864A>G (p.Gln288=)
|
|
|
|
NM_001018113.3(FANCB):c.876A>G (p.Ser292=)
|
|
|
|
NM_001018113.3(FANCB):c.885A>G (p.Gly295=)
|
rs1477082234
|
|
|
NM_001018113.3(FANCB):c.898G>A (p.Val300Ile)
|
|
|
|
NM_001018113.3(FANCB):c.906C>T (p.Ser302=)
|
|
|
|
NM_001018113.3(FANCB):c.93T>C (p.Asn31=)
|
|
|
|
NM_001018113.3(FANCB):c.951+13T>C
|
|
|
|
NM_001018113.3(FANCB):c.951+19T>C
|
|
|
|
NM_001018113.3(FANCB):c.951+7C>T
|
|
|
|
NM_001018113.3(FANCB):c.951G>T (p.Gln317His)
|
|
|
|
NM_001018113.3(FANCB):c.952-13C>T
|
rs1057515807
|
|
|
NM_001018113.3(FANCB):c.952-14T>C
|
|
|
|
NM_001018113.3(FANCB):c.952-16G>A
|
|
|
|
NM_001018113.3(FANCB):c.952-19A>G
|
|
|
|
NM_001018113.3(FANCB):c.970A>C (p.Lys324Gln)
|
|
|
|
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn)
|
rs1456143136
|
|
|
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)
|
|
|
|
NM_001018113.3(FANCB):c.987G>C (p.Leu329=)
|
|
|
|
NM_001018113.3(FANCB):c.990A>T (p.Ile330=)
|
rs2147429139
|
|
|
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1009A>T (p.Ser337Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.100A>G (p.Lys34Glu)
|
rs1394658178
|
|
|
NM_001018115.3(FANCD2):c.1016G>A (p.Gly339Asp)
|
rs1575749612
|
|
|
NM_001018115.3(FANCD2):c.1018C>G (p.Gln340Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1019A>G (p.Gln340Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.1020G>A (p.Gln340=)
|
|
|
|
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del)
|
rs1158786668
|
|
|
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro)
|
rs773847165
|
|
|
NM_001018115.3(FANCD2):c.1044T>C (p.Asp348=)
|
|
|
|
NM_001018115.3(FANCD2):c.1053G>A (p.Lys351=)
|
|
|
|
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter)
|
rs531943246
|
|
|
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs)
|
|
|
|
NM_001018115.3(FANCD2):c.107A>G (p.His36Arg)
|
rs2124970667
|
|
|
NM_001018115.3(FANCD2):c.1088C>G (p.Ala363Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.1091G>C (p.Trp364Ser)
|
rs2086921184
|
|
|
NM_001018115.3(FANCD2):c.1098+16C>G
|
|
|
|
NM_001018115.3(FANCD2):c.1098+16C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1098+17T>A
|
|
|
|
NM_001018115.3(FANCD2):c.1098+19T>C
|
|
|
|
NM_001018115.3(FANCD2):c.1098+20_1098+23del
|
|
|
|
NM_001018115.3(FANCD2):c.1098+2T>A
|
|
|
|
NM_001018115.3(FANCD2):c.1099-6T>G
|
rs759324309
|
|
|
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)
|
|
|
|
NM_001018115.3(FANCD2):c.111T>C (p.Ile37=)
|
|
|
|
NM_001018115.3(FANCD2):c.1128A>G (p.Glu376=)
|
|
|
|
NM_001018115.3(FANCD2):c.1134+10A>C
|
|
|
|
NM_001018115.3(FANCD2):c.1134+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1135-6C>A
|
rs2087017963
|
|
|
NM_001018115.3(FANCD2):c.1136T>C (p.Val379Ala)
|
rs1006403887
|
|
|
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=)
|
rs72492997
|
|
|
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=)
|
rs112887807
|
|
|
NM_001018115.3(FANCD2):c.1178C>G (p.Thr393Ser)
|
rs765339192
|
|
|
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)
|
rs72492998
|
|
|
NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys)
|
rs2086637443
|
|
|
NM_001018115.3(FANCD2):c.1200C>T (p.Asp400=)
|
rs755295382
|
|
|
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer)
|
rs2125000318
|
|
|
NM_001018115.3(FANCD2):c.1207C>G (p.Leu403Val)
|
rs753223864
|
|
|
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser)
|
rs73126218
|
|
|
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln)
|
rs370522983
|
|
|
NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.1278+2dup
|
rs1553608861
|
|
|
NM_001018115.3(FANCD2):c.1279-3A>T
|
rs1354341272
|
|
|
NM_001018115.3(FANCD2):c.1279G>A (p.Val427Ile)
|
rs529893298
|
|
|
NM_001018115.3(FANCD2):c.1311G>T (p.Ser437=)
|
rs564577177
|
|
|
NM_001018115.3(FANCD2):c.1335T>C (p.Ser445=)
|
rs1575759741
|
|
|
NM_001018115.3(FANCD2):c.1349T>C (p.Ile450Thr)
|
rs549790164
|
|
|
NM_001018115.3(FANCD2):c.1349T>G (p.Ile450Arg)
|
rs549790164
|
|
|
NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1413+2T>C
|
rs1459222478
|
|
|
NM_001018115.3(FANCD2):c.1413+8G>A
|
rs2087079196
|
|
|
NM_001018115.3(FANCD2):c.1414-9C>T
|
rs35557429
|
|
|
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
|
|
|
|
NM_001018115.3(FANCD2):c.1447A>C (p.Ser483Arg)
|
rs2087129366
|
|
|
NM_001018115.3(FANCD2):c.144T>C (p.Phe48=)
|
rs750534583
|
|
|
NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly)
|
rs780343756
|
|
|
NM_001018115.3(FANCD2):c.1470T>C (p.Asp490=)
|
rs567183176
|
|
|
NM_001018115.3(FANCD2):c.150G>A (p.Lys50=)
|
|
|
|
NM_001018115.3(FANCD2):c.1546-1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1546-6C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1547G>T (p.Gly516Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1549A>G (p.Ile517Val)
|
rs2087243822
|
|
|
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr)
|
rs1221998060
|
|
|
NM_001018115.3(FANCD2):c.1555G>C (p.Asp519His)
|
|
|
|
NM_001018115.3(FANCD2):c.1557T>G (p.Asp519Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1573T>G (p.Ser525Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.1576C>T (p.Pro526Ser)
|
|
|
|
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.1596C>A (p.Leu532=)
|
|
|
|
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe)
|
rs143701205
|
|
|
NM_001018115.3(FANCD2):c.1604T>C (p.Val535Ala)
|
rs2125011965
|
|
|
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=)
|
rs141824395
|
|
|
NM_001018115.3(FANCD2):c.1615C>A (p.Leu539Met)
|
|
|
|
NM_001018115.3(FANCD2):c.1618G>T (p.Ala540Ser)
|
rs765324038
|
|
|
NM_001018115.3(FANCD2):c.1626C>T (p.Ser542=)
|
|
|
|
NM_001018115.3(FANCD2):c.1650C>G (p.His550Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.1653C>T (p.Ile551=)
|
|
|
|
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1656+10A>C
|
rs2087247708
|
|
|
NM_001018115.3(FANCD2):c.1656+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1656+7G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1657-12A>T
|
|
|
|
NM_001018115.3(FANCD2):c.1657-12_1657-10del
|
|
|
|
NM_001018115.3(FANCD2):c.1657-16C>G
|
rs1335826866
|
|
|
NM_001018115.3(FANCD2):c.1657-18T>G
|
|
|
|
NM_001018115.3(FANCD2):c.1657-5T>G
|
rs2125026589
|
|
|
NM_001018115.3(FANCD2):c.1659T>C (p.Asp553=)
|
|
|
|
NM_001018115.3(FANCD2):c.1663A>G (p.Met555Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1668C>T (p.His556=)
|
rs2125026611
|
|
|
NM_001018115.3(FANCD2):c.1678A>C (p.Arg560=)
|
|
|
|
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.1689C>G (p.Leu563=)
|
|
|
|
NM_001018115.3(FANCD2):c.1689C>T (p.Leu563=)
|
rs1281020807
|
|
|
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)
|
|
|
|
NM_001018115.3(FANCD2):c.1692T>C (p.Ser564=)
|
|
|
|
NM_001018115.3(FANCD2):c.1717A>G (p.Ile573Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1727T>C (p.Ile576Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.1732G>A (p.Ala578Thr)
|
rs2087530880
|
|
|
NM_001018115.3(FANCD2):c.1734T>C (p.Ala578=)
|
|
|
|
NM_001018115.3(FANCD2):c.174T>A (p.Ile58=)
|
|
|
|
NM_001018115.3(FANCD2):c.1753A>G (p.Met585Val)
|
|
|
|
NM_001018115.3(FANCD2):c.1759G>A (p.Ala587Thr)
|
rs1553610798
|
|
|
NM_001018115.3(FANCD2):c.1766+13A>G
|
|
|
|
NM_001018115.3(FANCD2):c.1766+15T>G
|
|
|
|
NM_001018115.3(FANCD2):c.1766+17T>C
|
|
|
|
NM_001018115.3(FANCD2):c.1766+19A>G
|
|
|
|
NM_001018115.3(FANCD2):c.1766+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1766+4C>G
|
|
|
|
NM_001018115.3(FANCD2):c.1766+4C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1766+7G>T
|
|
|
|
NM_001018115.3(FANCD2):c.1767-10T>C
|
|
|
|
NM_001018115.3(FANCD2):c.1788C>G (p.Thr596=)
|
|
|
|
NM_001018115.3(FANCD2):c.1794G>A (p.Glu598=)
|
|
|
|
NM_001018115.3(FANCD2):c.1796G>A (p.Arg599Lys)
|
rs1575787379
|
|
|
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
|
rs955122662
|
|
|
NM_001018115.3(FANCD2):c.1807A>C (p.Ser603Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.1809C>T (p.Ser603=)
|
|
|
|
NM_001018115.3(FANCD2):c.180A>G (p.Lys60=)
|
|
|
|
NM_001018115.3(FANCD2):c.1815G>A (p.Glu605=)
|
|
|
|
NM_001018115.3(FANCD2):c.1821C>T (p.Cys607=)
|
rs2087590153
|
|
|
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter)
|
rs1247410343
|
|
|
NM_001018115.3(FANCD2):c.1827+15del
|
|
|
|
NM_001018115.3(FANCD2):c.1827+15dup
|
|
|
|
NM_001018115.3(FANCD2):c.1828-11C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1828-12T>G
|
|
|
|
NM_001018115.3(FANCD2):c.1828-18T>C
|
|
|
|
NM_001018115.3(FANCD2):c.1828-20A>C
|
|
|
|
NM_001018115.3(FANCD2):c.1837T>C (p.Leu613=)
|
rs2125032558
|
|
|
NM_001018115.3(FANCD2):c.1837TTG[3] (p.Leu614_Gln615insLeu)
|
|
|
|
NM_001018115.3(FANCD2):c.1839G>A (p.Leu613=)
|
|
|
|
NM_001018115.3(FANCD2):c.183G>T (p.Thr61=)
|
rs771445756
|
|
|
NM_001018115.3(FANCD2):c.1854T>C (p.His618=)
|
|
|
|
NM_001018115.3(FANCD2):c.1863T>C (p.Ser621=)
|
|
|
|
NM_001018115.3(FANCD2):c.1866G>A (p.Glu622=)
|
|
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
|
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.186A>G (p.Gly62=)
|
|
|
|
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)
|
|
|
|
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)
|
rs757567225
|
|
|
NM_001018115.3(FANCD2):c.1910A>G (p.Asn637Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=)
|
rs151224882
|
|
|
NM_001018115.3(FANCD2):c.1917C>T (p.Ile639=)
|
|
|
|
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg)
|
rs750353000
|
|
|
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs)
|
rs1221526082
|
|
|
NM_001018115.3(FANCD2):c.1938A>G (p.Pro646=)
|
|
|
|
NM_001018115.3(FANCD2):c.1945C>T (p.Leu649=)
|
|
|
|
NM_001018115.3(FANCD2):c.1947+14T>G
|
|
|
|
NM_001018115.3(FANCD2):c.1947+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1947+3A>G
|
|
|
|
NM_001018115.3(FANCD2):c.1947+6G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1947+7C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1947+9A>G
|
|
|
|
NM_001018115.3(FANCD2):c.1947G>A (p.Leu649=)
|
rs753041155
|
|
|
NM_001018115.3(FANCD2):c.1947G>C (p.Leu649=)
|
rs753041155
|
|
|
NM_001018115.3(FANCD2):c.1948-15G>C
|
|
|
|
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile)
|
rs1381447946
|
|
|
NM_001018115.3(FANCD2):c.1954G>C (p.Val652Leu)
|
rs1381447946
|
|
|
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
|
|
|
|
NM_001018115.3(FANCD2):c.1965C>G (p.Thr655=)
|
|
|
|
NM_001018115.3(FANCD2):c.1989C>G (p.Ala663=)
|
rs2087655199
|
|
|
NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)
|
|
|
|
NM_001018115.3(FANCD2):c.19C>T (p.Leu7=)
|
|
|
|
NM_001018115.3(FANCD2):c.2001C>T (p.Asp667=)
|
|
|
|
NM_001018115.3(FANCD2):c.2003C>T (p.Ser668Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.2006G>C (p.Cys669Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2014C>A (p.Pro672Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2015C>T (p.Pro672Leu)
|
rs754258198
|
|
|
NM_001018115.3(FANCD2):c.2020G>A (p.Gly674Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2021+15C>T
|
rs2125034247
|
|
|
NM_001018115.3(FANCD2):c.2021+5G>A
|
rs1243372102
|
|
|
NM_001018115.3(FANCD2):c.2022-4G>T
|
rs748941966
|
|
|
NM_001018115.3(FANCD2):c.2022-5C>A
|
|
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
|
NM_001018115.3(FANCD2):c.2022-6C>T
|
rs2125034948
|
|
|
NM_001018115.3(FANCD2):c.2023G>C (p.Asp675His)
|
|
|
|
NM_001018115.3(FANCD2):c.2025C>T (p.Asp675=)
|
|
|
|
NM_001018115.3(FANCD2):c.2028T>C (p.Phe676=)
|
|
|
|
NM_001018115.3(FANCD2):c.202C>T (p.Leu68=)
|
|
|
|
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu)
|
rs2087667280
|
|
|
NM_001018115.3(FANCD2):c.2048T>G (p.Leu683Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.2049G>A (p.Leu683=)
|
rs768608195
|
|
|
NM_001018115.3(FANCD2):c.205+16A>G
|
|
|
|
NM_001018115.3(FANCD2):c.205+1G>A
|
rs2124970985
|
|
|
NM_001018115.3(FANCD2):c.205+4_205+6del
|
|
|
|
NM_001018115.3(FANCD2):c.2052C>T (p.Tyr684=)
|
rs776906387
|
|
|
NM_001018115.3(FANCD2):c.2057T>C (p.Leu686Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.206-14T>C
|
|
|
|
NM_001018115.3(FANCD2):c.206-15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.206-18C>G
|
|
|
|
NM_001018115.3(FANCD2):c.206-4A>G
|
|
|
|
NM_001018115.3(FANCD2):c.206-5C>T
|
|
|
|
NM_001018115.3(FANCD2):c.206-6G>A
|
rs1386251857
|
|
|
NM_001018115.3(FANCD2):c.206-9T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=)
|
rs763189891
|
|
|
NM_001018115.3(FANCD2):c.2077G>T (p.Asp693Tyr)
|
rs2125035150
|
|
|
NM_001018115.3(FANCD2):c.2082G>T (p.Gly694=)
|
rs1575792797
|
|
|
NM_001018115.3(FANCD2):c.2083A>C (p.Ile695Leu)
|
rs2125035169
|
|
|
NM_001018115.3(FANCD2):c.2087C>T (p.Ala696Val)
|
rs2087669561
|
|
|
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del)
|
rs869312805
|
|
|
NM_001018115.3(FANCD2):c.2097C>A (p.Leu699=)
|
|
|
|
NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.2103G>A (p.Pro701=)
|
rs139033444
|
|
|
NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=)
|
rs139033444
|
|
|
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2121C>T (p.Asp707=)
|
|
|
|
NM_001018115.3(FANCD2):c.2133T>C (p.Asp711=)
|
rs2125035366
|
|
|
NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.2136G>A (p.Gly712=)
|
|
|
|
NM_001018115.3(FANCD2):c.2136G>C (p.Gly712=)
|
|
|
|
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2148C>T (p.Thr716=)
|
|
|
|
NM_001018115.3(FANCD2):c.2151A>G (p.Ser717=)
|
|
|
|
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2168+5G>C
|
rs1237529867
|
|
|
NM_001018115.3(FANCD2):c.2168+9A>T
|
|
|
|
NM_001018115.3(FANCD2):c.2168+9del
|
rs1364300331
|
|
|
NM_001018115.3(FANCD2):c.2168_2168+1delinsT
|
rs2087674573
|
|
|
NM_001018115.3(FANCD2):c.2169-15A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2169-17T>A
|
|
|
|
NM_001018115.3(FANCD2):c.2169-19A>T
|
|
|
|
NM_001018115.3(FANCD2):c.2169-1G>C
|
rs141783465
|
|
|
NM_001018115.3(FANCD2):c.2169-6_2169-4del
|
|
|
|
NM_001018115.3(FANCD2):c.2169-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.216A>G (p.Gln72=)
|
|
|
|
NM_001018115.3(FANCD2):c.2188C>T (p.Leu730=)
|
|
|
|
NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met)
|
rs2124974577
|
|
|
NM_001018115.3(FANCD2):c.2205G>T (p.Arg735=)
|
rs2125036460
|
|
|
NM_001018115.3(FANCD2):c.2214A>G (p.Arg738=)
|
rs527711543
|
|
|
NM_001018115.3(FANCD2):c.2215C>A (p.Leu739Ile)
|
|
|
|
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2218T>C (p.Cys740Arg)
|
rs368885711
|
|
|
NM_001018115.3(FANCD2):c.2219G>T (p.Cys740Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.221C>T (p.Ala74Val)
|
|
|
|
NM_001018115.3(FANCD2):c.2221G>A (p.Val741Met)
|
|
|
|
NM_001018115.3(FANCD2):c.2224G>A (p.Glu742Lys)
|
|
|
|
NM_001018115.3(FANCD2):c.2246T>G (p.Leu749Trp)
|
rs1426222284
|
|
|
NM_001018115.3(FANCD2):c.2251G>A (p.Glu751Lys)
|
rs1559389326
|
|
|
NM_001018115.3(FANCD2):c.2252A>C (p.Glu751Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.2253G>A (p.Glu751=)
|
rs2125036589
|
|
|
NM_001018115.3(FANCD2):c.2255T>C (p.Ile752Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2259T>C (p.Asp753=)
|
|
|
|
NM_001018115.3(FANCD2):c.2266C>T (p.Leu756=)
|
|
|
|
NM_001018115.3(FANCD2):c.2269+11_2269+12del
|
|
|
|
NM_001018115.3(FANCD2):c.2269+16A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2269+16A>T
|
|
|
|
NM_001018115.3(FANCD2):c.2269+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2269+20G>C
|
rs2087695350
|
|
|
NM_001018115.3(FANCD2):c.2269+9T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2270-10T>C
|
rs2125037080
|
|
|
NM_001018115.3(FANCD2):c.2270-1G>C
|
|
|
|
NM_001018115.3(FANCD2):c.2270-7C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2270-9C>G
|
|
|
|
NM_001018115.3(FANCD2):c.2295G>A (p.Leu765=)
|
|
|
|
NM_001018115.3(FANCD2):c.2300C>T (p.Pro767Leu)
|
rs2087705679
|
|
|
NM_001018115.3(FANCD2):c.230del (p.Lys77fs)
|
rs770835633
|
|
|
NM_001018115.3(FANCD2):c.2311T>C (p.Leu771=)
|
rs1045809342
|
|
|
NM_001018115.3(FANCD2):c.2320A>G (p.Met774Val)
|
|
|
|
NM_001018115.3(FANCD2):c.2321T>C (p.Met774Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His)
|
rs377083479
|
|
|
NM_001018115.3(FANCD2):c.2340A>G (p.Ser780=)
|
|
|
|
NM_001018115.3(FANCD2):c.2344A>G (p.Met782Val)
|
rs779740652
|
|
|
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2358A>G (p.Ile786Met)
|
rs2087707764
|
|
|
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs)
|
rs2124974621
|
|
|
NM_001018115.3(FANCD2):c.2367T>G (p.Thr789=)
|
|
|
|
NM_001018115.3(FANCD2):c.2373C>T (p.Asn791=)
|
rs1575795387
|
|
|
NM_001018115.3(FANCD2):c.237C>G (p.Leu79=)
|
|
|
|
NM_001018115.3(FANCD2):c.2381G>A (p.Arg794Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.2385+6C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2385+8G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2386-11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2386-5T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2386-9A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2386A>C (p.Ile796Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.2387T>C (p.Ile796Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp)
|
rs1193547837
|
|
|
NM_001018115.3(FANCD2):c.2397C>A (p.Ala799=)
|
|
|
|
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)
|
rs1374735618
|
|
|
NM_001018115.3(FANCD2):c.2406G>A (p.Gln802=)
|
|
|
|
NM_001018115.3(FANCD2):c.2412A>G (p.Thr804=)
|
|
|
|
NM_001018115.3(FANCD2):c.2422A>T (p.Met808Leu)
|
rs375415579
|
|
|
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2436G>A (p.Val812=)
|
|
|
|
NM_001018115.3(FANCD2):c.2442T>C (p.Thr814=)
|
|
|
|
NM_001018115.3(FANCD2):c.2446T>G (p.Leu816Val)
|
rs2125039040
|
|
|
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2451G>A (p.Lys817=)
|
|
|
|
NM_001018115.3(FANCD2):c.2451G>C (p.Lys817Asn)
|
|
|
|
NM_001018115.3(FANCD2):c.2464T>C (p.Leu822=)
|
|
|
|
NM_001018115.3(FANCD2):c.2472A>C (p.Ile824=)
|
|
|
|
NM_001018115.3(FANCD2):c.2484G>C (p.Lys828Asn)
|
|
|
|
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)
|
rs1289665675
|
|
|
NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)
|
|
|
|
NM_001018115.3(FANCD2):c.2490G>A (p.Leu830=)
|
|
|
|
NM_001018115.3(FANCD2):c.2494+10G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2494+11T>A
|
|
|
|
NM_001018115.3(FANCD2):c.2494+13T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2494+18T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2495-13C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2495-14G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2495-16C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2495-18G>C
|
|
|
|
NM_001018115.3(FANCD2):c.2495-2A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2495-3C>A
|
rs2125047914
|
|
|
NM_001018115.3(FANCD2):c.2495-4T>G
|
rs1553612428
|
|
|
NM_001018115.3(FANCD2):c.2495-7G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2496C>T (p.Val832=)
|
|
|
|
NM_001018115.3(FANCD2):c.2499C>T (p.Thr833=)
|
|
|
|
NM_001018115.3(FANCD2):c.249G>C (p.Leu83=)
|
rs2086682680
|
|
|
NM_001018115.3(FANCD2):c.2502A>G (p.Pro834=)
|
|
|
|
NM_001018115.3(FANCD2):c.2507A>G (p.Tyr836Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.2508T>C (p.Tyr836=)
|
|
|
|
NM_001018115.3(FANCD2):c.2511C>A (p.Val837=)
|
|
|
|
NM_001018115.3(FANCD2):c.2511C>G (p.Val837=)
|
|
|
|
NM_001018115.3(FANCD2):c.2514T>G (p.Pro838=)
|
|
|
|
NM_001018115.3(FANCD2):c.2544A>G (p.Leu848=)
|
|
|
|
NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu)
|
rs375827113
|
|
|
NM_001018115.3(FANCD2):c.2556T>C (p.Pro852=)
|
|
|
|
NM_001018115.3(FANCD2):c.2562T>C (p.Thr854=)
|
|
|
|
NM_001018115.3(FANCD2):c.2564_2569del (p.Val855_Thr856del)
|
rs1693335762
|
|
|
NM_001018115.3(FANCD2):c.2584A>C (p.Ile862Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.2593A>C (p.Lys865Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.259C>G (p.Pro87Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.2605+12C>A
|
|
|
|
NM_001018115.3(FANCD2):c.2605+25_2605+29del
|
rs1278623181
|
|
|
NM_001018115.3(FANCD2):c.2605+2dup
|
rs2125048104
|
|
|
NM_001018115.3(FANCD2):c.2605+8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2605+9G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2606-11del
|
|
|
|
NM_001018115.3(FANCD2):c.2606-12_2606-11del
|
rs754006641
|
|
|
NM_001018115.3(FANCD2):c.2606-15T>C
|
rs2125048406
|
|
|
NM_001018115.3(FANCD2):c.2606-16C>G
|
|
|
|
NM_001018115.3(FANCD2):c.2606-18C>T
|
rs1693351182
|
|
|
NM_001018115.3(FANCD2):c.2609G>T (p.Arg870Met)
|
|
|
|
NM_001018115.3(FANCD2):c.2610G>C (p.Arg870Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)
|
rs56041034
|
|
|
NM_001018115.3(FANCD2):c.2621C>G (p.Thr874Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.2622A>G (p.Thr874=)
|
|
|
|
NM_001018115.3(FANCD2):c.2625T>C (p.Asp875=)
|
|
|
|
NM_001018115.3(FANCD2):c.2631C>G (p.Ser877Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.2640C>G (p.Ser880=)
|
|
|
|
NM_001018115.3(FANCD2):c.2652A>G (p.Thr884=)
|
|
|
|
NM_001018115.3(FANCD2):c.2667A>G (p.Lys889=)
|
|
|
|
NM_001018115.3(FANCD2):c.2683C>T (p.Pro895Ser)
|
rs1693355244
|
|
|
NM_001018115.3(FANCD2):c.2687C>T (p.Thr896Met)
|
|
|
|
NM_001018115.3(FANCD2):c.2691A>C (p.Pro897=)
|
|
|
|
NM_001018115.3(FANCD2):c.2691A>G (p.Pro897=)
|
|
|
|
NM_001018115.3(FANCD2):c.2693C>G (p.Ser898Cys)
|
rs1693356065
|
|
|
NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.2697T>C (p.His899=)
|
|
|
|
NM_001018115.3(FANCD2):c.2705A>G (p.Gln902Arg)
|
rs766865689
|
|
|
NM_001018115.3(FANCD2):c.2715+10T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2715+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2715+11G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2715+16del
|
|
|
|
NM_001018115.3(FANCD2):c.2715+17T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2716-12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2716-13G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2716-9T>A
|
|
|
|
NM_001018115.3(FANCD2):c.2716-9T>G
|
rs760325562
|
|
|
NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.2724A>G (p.Thr908=)
|
|
|
|
NM_001018115.3(FANCD2):c.2725G>A (p.Gly909Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.2727G>A (p.Gly909=)
|
|
|
|
NM_001018115.3(FANCD2):c.2728A>G (p.Lys910Glu)
|
rs1693428697
|
|
|
NM_001018115.3(FANCD2):c.273+12del
|
rs758809407
|
|
|
NM_001018115.3(FANCD2):c.273+15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2732A>G (p.Glu911Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.2739G>A (p.Lys913=)
|
rs2125050010
|
|
|
NM_001018115.3(FANCD2):c.274-11del
|
|
|
|
NM_001018115.3(FANCD2):c.274-14del
|
|
|
|
NM_001018115.3(FANCD2):c.274-6C>A
|
|
|
|
NM_001018115.3(FANCD2):c.274-9C>G
|
|
|
|
NM_001018115.3(FANCD2):c.274-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2741CAT[1] (p.Ser915del)
|
|
|
|
NM_001018115.3(FANCD2):c.2742A>G (p.Thr914=)
|
|
|
|
NM_001018115.3(FANCD2):c.2745A>G (p.Ser915=)
|
|
|
|
NM_001018115.3(FANCD2):c.2753T>C (p.Leu918Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2769T>C (p.Ala923=)
|
|
|
|
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.2777G>A (p.Arg926Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.2796C>T (p.Val932=)
|
|
|
|
NM_001018115.3(FANCD2):c.2799C>T (p.Phe933=)
|
|
|
|
NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met)
|
rs1559370542
|
|
|
NM_001018115.3(FANCD2):c.2809del (p.His937fs)
|
|
|
|
NM_001018115.3(FANCD2):c.280del (p.Glu94fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2811T>C (p.His937=)
|
|
|
|
NM_001018115.3(FANCD2):c.2814T>C (p.Cys938=)
|
rs2125050162
|
|
|
NM_001018115.3(FANCD2):c.2816G>C (p.Gly939Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)
|
rs200118565
|
|
|
NM_001018115.3(FANCD2):c.2833A>G (p.Ile945Val)
|
rs1365150085
|
|
|
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.2859+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2859+11G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2859+12G>A
|
rs2125050262
|
|
|
NM_001018115.3(FANCD2):c.2859+14T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2859+19T>C
|
|
|
|
NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.2860-10C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2860-11C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2860-4A>C
|
rs2125054543
|
|
|
NM_001018115.3(FANCD2):c.2860-5G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2860-8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2860G>T (p.Ala954Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2867_2869del (p.Glu956del)
|
rs1693630743
|
|
|
NM_001018115.3(FANCD2):c.2869G>C (p.Val957Leu)
|
rs762683227
|
|
|
NM_001018115.3(FANCD2):c.2882G>A (p.Gly961Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.2886C>A (p.Pro962=)
|
|
|
|
NM_001018115.3(FANCD2):c.2886C>G (p.Pro962=)
|
|
|
|
NM_001018115.3(FANCD2):c.2886C>T (p.Pro962=)
|
|
|
|
NM_001018115.3(FANCD2):c.2889T>C (p.Pro963=)
|
|
|
|
NM_001018115.3(FANCD2):c.288T>C (p.Phe96=)
|
|
|
|
NM_001018115.3(FANCD2):c.2907G>A (p.Leu969=)
|
|
|
|
NM_001018115.3(FANCD2):c.2908G>C (p.Glu970Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.2916C>T (p.Leu972=)
|
|
|
|
NM_001018115.3(FANCD2):c.2931G>A (p.Glu977=)
|
|
|
|
NM_001018115.3(FANCD2):c.2932A>T (p.Ser978Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.2933G>A (p.Ser978Asn)
|
|
|
|
NM_001018115.3(FANCD2):c.2937G>A (p.Met979Ile)
|
rs779245007
|
|
|
NM_001018115.3(FANCD2):c.2943A>T (p.Thr981=)
|
|
|
|
NM_001018115.3(FANCD2):c.2944C>T (p.Pro982Ser)
|
rs1051740558
|
|
|
NM_001018115.3(FANCD2):c.2947C>T (p.Pro983Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.294T>C (p.Ser98=)
|
|
|
|
NM_001018115.3(FANCD2):c.2955C>T (p.Ala985=)
|
|
|
|
NM_001018115.3(FANCD2):c.2958G>A (p.Arg986=)
|
|
|
|
NM_001018115.3(FANCD2):c.2959A>G (p.Arg987Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)
|
|
|
|
NM_001018115.3(FANCD2):c.2967C>G (p.Pro989=)
|
rs2125054748
|
|
|
NM_001018115.3(FANCD2):c.2967C>T (p.Pro989=)
|
|
|
|
NM_001018115.3(FANCD2):c.2971C>G (p.Leu991Val)
|
rs1575817874
|
|
|
NM_001018115.3(FANCD2):c.2971C>T (p.Leu991Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.2973C>G (p.Leu991=)
|
|
|
|
NM_001018115.3(FANCD2):c.2976+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2976+12C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2976+12del
|
|
|
|
NM_001018115.3(FANCD2):c.2976+15A>T
|
rs2125054794
|
|
|
NM_001018115.3(FANCD2):c.2976+19A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2976+19A>T
|
|
|
|
NM_001018115.3(FANCD2):c.2976+20T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2976+23_2976+35del
|
|
|
|
NM_001018115.3(FANCD2):c.2976+7G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2977-13G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2977-14T>A
|
rs2125059347
|
|
|
NM_001018115.3(FANCD2):c.2977-17C>G
|
|
|
|
NM_001018115.3(FANCD2):c.2977-17C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2977-18A>C
|
|
|
|
NM_001018115.3(FANCD2):c.2977-4A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2977-7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2978A>G (p.Asn993Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.2979C>T (p.Asn993=)
|
|
|
|
NM_001018115.3(FANCD2):c.2985A>T (p.Gly995=)
|
rs1575823725
|
|
|
NM_001018115.3(FANCD2):c.2988C>A (p.Ser996Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.298C>T (p.Leu100=)
|
|
|
|
NM_001018115.3(FANCD2):c.2992A>T (p.Asn998Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.2995A>G (p.Ile999Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3005C>T (p.Ser1002Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.300G>A (p.Leu100=)
|
rs2124975151
|
|
|
NM_001018115.3(FANCD2):c.3012C>T (p.Leu1004=)
|
|
|
|
NM_001018115.3(FANCD2):c.3014A>G (p.Gln1005Arg)
|
rs964376104
|
|
|
NM_001018115.3(FANCD2):c.3015A>G (p.Gln1005=)
|
|
|
|
NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3020G>T (p.Arg1007Ile)
|
rs901861823
|
|
|
NM_001018115.3(FANCD2):c.3021A>G (p.Arg1007=)
|
|
|
|
NM_001018115.3(FANCD2):c.3024T>C (p.Ser1008=)
|
|
|
|
NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3039T>A (p.Val1013=)
|
|
|
|
NM_001018115.3(FANCD2):c.3043T>C (p.Cys1015Arg)
|
rs2125059575
|
|
|
NM_001018115.3(FANCD2):c.3044del (p.Cys1015fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3048T>G (p.Val1016=)
|
|
|
|
NM_001018115.3(FANCD2):c.3049T>G (p.Phe1017Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3051T>A (p.Phe1017Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.3075C>A (p.Asn1025Lys)
|
|
|
|
NM_001018115.3(FANCD2):c.308_312del (p.Ser102_Tyr103insTer)
|
|
|
|
NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3105+12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3106-13T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3106-14A>C
|
|
|
|
NM_001018115.3(FANCD2):c.3106-14A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3106-15C>A
|
|
|
|
NM_001018115.3(FANCD2):c.3106-15C>G
|
|
|
|
NM_001018115.3(FANCD2):c.3106-15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3106-19A>T
|
|
|
|
NM_001018115.3(FANCD2):c.3108T>C (p.Cys1036=)
|
|
|
|
NM_001018115.3(FANCD2):c.3139G>A (p.Gly1047Arg)
|
rs1693825081
|
|
|
NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu)
|
rs2125060028
|
|
|
NM_001018115.3(FANCD2):c.3155T>A (p.Val1052Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3169A>G (p.Ile1057Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg)
|
rs1693827482
|
|
|
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs)
|
rs2125060144
|
|
|
NM_001018115.3(FANCD2):c.3195G>A (p.Leu1065=)
|
|
|
|
NM_001018115.3(FANCD2):c.3197T>C (p.Leu1066Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.3201G>T (p.Gln1067His)
|
|
|
|
NM_001018115.3(FANCD2):c.3208C>G (p.His1070Asp)
|
rs201184977
|
|
|
NM_001018115.3(FANCD2):c.3208C>T (p.His1070Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.3209A>C (p.His1070Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)
|
rs759516610
|
|
|
NM_001018115.3(FANCD2):c.3224+10T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3224+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3224+1G>C
|
|
|
|
NM_001018115.3(FANCD2):c.3224+1G>T
|
rs1468320596
|
|
|
NM_001018115.3(FANCD2):c.3224+7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3224+8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3225-10A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3225-14C>G
|
|
|
|
NM_001018115.3(FANCD2):c.3225-16A>T
|
|
|
|
NM_001018115.3(FANCD2):c.3225-17T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3225-4T>G
|
|
|
|
NM_001018115.3(FANCD2):c.3225-6_3225-3del
|
|
|
|
NM_001018115.3(FANCD2):c.3225-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3240A>G (p.Gln1080=)
|
rs1694161718
|
|
|
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3252G>A (p.Gln1084=)
|
|
|
|
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)
|
|
|
|
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3291A>C (p.Arg1097=)
|
|
|
|
NM_001018115.3(FANCD2):c.3292C>A (p.Leu1098Met)
|
|
|
|
NM_001018115.3(FANCD2):c.3292C>T (p.Leu1098=)
|
|
|
|
NM_001018115.3(FANCD2):c.3306A>C (p.Glu1102Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.3319T>G (p.Leu1107Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3323A>G (p.Glu1108Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.3325G>A (p.Glu1109Lys)
|
|
|
|
NM_001018115.3(FANCD2):c.3335+11A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3335+16A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3335+19G>C
|
|
|
|
NM_001018115.3(FANCD2):c.3335+3G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3335+8A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3336-10C>G
|
|
|
|
NM_001018115.3(FANCD2):c.3336-4dup
|
|
|
|
NM_001018115.3(FANCD2):c.3336-8C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)
|
|
|
|
NM_001018115.3(FANCD2):c.334A>C (p.Asn112His)
|
rs2086689020
|
|
|
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=)
|
rs566518051
|
|
|
NM_001018115.3(FANCD2):c.3354G>A (p.Leu1118=)
|
|
|
|
NM_001018115.3(FANCD2):c.3369A>G (p.Gln1123=)
|
|
|
|
NM_001018115.3(FANCD2):c.336C>T (p.Asn112=)
|
|
|
|
NM_001018115.3(FANCD2):c.3371G>C (p.Ser1124Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.3381T>C (p.Ser1127=)
|
|
|
|
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)
|
rs2125072527
|
|
|
NM_001018115.3(FANCD2):c.3393T>C (p.Ala1131=)
|
|
|
|
NM_001018115.3(FANCD2):c.3405C>T (p.Ile1135=)
|
|
|
|
NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)
|
|
|
|
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)
|
rs1559403654
|
|
|
NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)
|
|
|
|
NM_001018115.3(FANCD2):c.3462A>C (p.Lys1154Asn)
|
rs1559403678
|
|
|
NM_001018115.3(FANCD2):c.3466+6G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3466+9C>T
|
rs33998487
|
|
|
NM_001018115.3(FANCD2):c.3467-11T>G
|
|
|
|
NM_001018115.3(FANCD2):c.3467-12C>G
|
|
|
|
NM_001018115.3(FANCD2):c.3467-12_3467-10del
|
|
|
|
NM_001018115.3(FANCD2):c.3467-2A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3467-3C>A
|
rs1694370265
|
|
|
NM_001018115.3(FANCD2):c.3467-8T>G
|
rs2125076487
|
|
|
NM_001018115.3(FANCD2):c.3468T>G (p.Ala1156=)
|
rs2125076511
|
|
|
NM_001018115.3(FANCD2):c.3474T>C (p.Leu1158=)
|
|
|
|
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer)
|
|
|
|
NM_001018115.3(FANCD2):c.3489C>T (p.Leu1163=)
|
|
|
|
NM_001018115.3(FANCD2):c.348T>C (p.Ser116=)
|
|
|
|
NM_001018115.3(FANCD2):c.348T>G (p.Ser116=)
|
|
|
|
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln)
|
rs549507714
|
|
|
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.3507T>G (p.Ser1169Arg)
|
rs1373304921
|
|
|
NM_001018115.3(FANCD2):c.350G>C (p.Cys117Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.3528C>T (p.Asn1176=)
|
|
|
|
NM_001018115.3(FANCD2):c.3531C>A (p.Ile1177=)
|
|
|
|
NM_001018115.3(FANCD2):c.3531C>T (p.Ile1177=)
|
|
|
|
NM_001018115.3(FANCD2):c.3535A>G (p.Asn1179Asp)
|
rs949980921
|
|
|
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter)
|
rs1694376599
|
|
|
NM_001018115.3(FANCD2):c.3546C>T (p.Leu1182=)
|
rs2125076733
|
|
|
NM_001018115.3(FANCD2):c.3551C>A (p.Ala1184Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.3552T>A (p.Ala1184=)
|
|
|
|
NM_001018115.3(FANCD2):c.3552T>C (p.Ala1184=)
|
|
|
|
NM_001018115.3(FANCD2):c.3560+11T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3560+13G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3560+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3561-13A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3561-1del
|
rs2125077559
|
|
|
NM_001018115.3(FANCD2):c.3561-9T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3564C>T (p.Ile1188=)
|
|
|
|
NM_001018115.3(FANCD2):c.3565T>A (p.Tyr1189Asn)
|
rs1273519317
|
|
|
NM_001018115.3(FANCD2):c.356G>C (p.Arg119Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.3584G>C (p.Ser1195Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.3586A>G (p.Ile1196Val)
|
rs1339689117
|
|
|
NM_001018115.3(FANCD2):c.3591G>A (p.Leu1197=)
|
|
|
|
NM_001018115.3(FANCD2):c.3594G>A (p.Lys1198=)
|
rs1463556947
|
|
|
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val)
|
rs2086517367
|
|
|
NM_001018115.3(FANCD2):c.3615T>G (p.Gly1205=)
|
|
|
|
NM_001018115.3(FANCD2):c.3618T>C (p.Val1206=)
|
|
|
|
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3623T>A (p.Val1208Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.3643C>T (p.Pro1215Ser)
|
rs941244378
|
|
|
NM_001018115.3(FANCD2):c.3645T>G (p.Pro1215=)
|
|
|
|
NM_001018115.3(FANCD2):c.365A>C (p.Asp122Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.3660C>G (p.Ser1220=)
|
rs1559404961
|
|
|
NM_001018115.3(FANCD2):c.3683+12C>A
|
|
|
|
NM_001018115.3(FANCD2):c.3683+17C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3683+18T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3683+5G>C
|
|
|
|
NM_001018115.3(FANCD2):c.3684-10C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3684-12C>G
|
|
|
|
NM_001018115.3(FANCD2):c.3684-14T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3684-18G>C
|
|
|
|
NM_001018115.3(FANCD2):c.3684-5T>C
|
rs1262479173
|
|
|
NM_001018115.3(FANCD2):c.3684-9G>T
|
|
|
|
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3694GTT[1] (p.Val1233del)
|
|
|
|
NM_001018115.3(FANCD2):c.3707G>T (p.Arg1236Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.3716T>A (p.Met1239Lys)
|
rs1694512844
|
|
|
NM_001018115.3(FANCD2):c.3723A>G (p.Glu1241=)
|
|
|
|
NM_001018115.3(FANCD2):c.3738G>A (p.Val1246=)
|
|
|
|
NM_001018115.3(FANCD2):c.3749_3777+789del
|
rs2125081509
|
|
|
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3768C>T (p.Asp1256=)
|
|
|
|
NM_001018115.3(FANCD2):c.377+6G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3771G>A (p.Ser1257=)
|
|
|
|
NM_001018115.3(FANCD2):c.3771G>T (p.Ser1257=)
|
|
|
|
NM_001018115.3(FANCD2):c.3777+16G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3777+17T>A
|
|
|
|
NM_001018115.3(FANCD2):c.3777+5G>A
|
rs368999017
|
|
|
NM_001018115.3(FANCD2):c.3777+8A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3778-16T>A
|
rs767539823
|
|
|
NM_001018115.3(FANCD2):c.3778-17del
|
|
|
|
NM_001018115.3(FANCD2):c.3778-19A>C
|
|
|
|
NM_001018115.3(FANCD2):c.3778-19A>G
|
|
|
|
NM_001018115.3(FANCD2):c.378-3C>T
|
rs74923817
|
|
|
NM_001018115.3(FANCD2):c.378-5T>C
|
|
|
|
NM_001018115.3(FANCD2):c.378-9T>A
|
|
|
|
NM_001018115.3(FANCD2):c.3792A>G (p.Lys1264=)
|
|
|
|
NM_001018115.3(FANCD2):c.3793C>T (p.Leu1265Phe)
|
rs749410557
|
|
|
NM_001018115.3(FANCD2):c.3798C>G (p.Leu1266=)
|
|
|
|
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)
|
rs757499508
|
|
|
NM_001018115.3(FANCD2):c.3807C>T (p.Asn1269=)
|
|
|
|
NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)
|
|
|
|
NM_001018115.3(FANCD2):c.383G>A (p.Gly128Asp)
|
rs760551106
|
|
|
NM_001018115.3(FANCD2):c.3848A>G (p.Lys1283Arg)
|
rs762148969
|
|
|
NM_001018115.3(FANCD2):c.3849+12G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3849+12_3849+13delinsAG
|
|
|
|
NM_001018115.3(FANCD2):c.3849+16G>A
|
rs767163581
|
|
|
NM_001018115.3(FANCD2):c.3849+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3849+1G>T
|
|
|
|
NM_001018115.3(FANCD2):c.3850-10A>C
|
|
|
|
NM_001018115.3(FANCD2):c.3850-10A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3850-15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3850-6C>A
|
|
|
|
NM_001018115.3(FANCD2):c.3860G>C (p.Ser1287Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.3869T>C (p.Val1290Ala)
|
rs2125088623
|
|
|
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
|
|
|
|
NM_001018115.3(FANCD2):c.3879A>T (p.Val1293=)
|
rs2125088663
|
|
|
NM_001018115.3(FANCD2):c.3883T>C (p.Leu1295=)
|
|
|
|
NM_001018115.3(FANCD2):c.3888+16G>C
|
|
|
|
NM_001018115.3(FANCD2):c.3888+18C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3888+5G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3888+7G>C
|
rs1482801348
|
|
|
NM_001018115.3(FANCD2):c.3888+7G>T
|
|
|
|
NM_001018115.3(FANCD2):c.3889-16T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3889-1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3889-20A>T
|
rs2125090552
|
|
|
NM_001018115.3(FANCD2):c.3889-20_3889-19del
|
|
|
|
NM_001018115.3(FANCD2):c.3889-8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3891T>C (p.Tyr1297=)
|
|
|
|
NM_001018115.3(FANCD2):c.3894G>A (p.Gly1298=)
|
|
|
|
NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3900C>A (p.Leu1300=)
|
|
|
|
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
|
|
|
|
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter)
|
rs148471911
|
|
|
NM_001018115.3(FANCD2):c.3924A>G (p.Gln1308=)
|
|
|
|
NM_001018115.3(FANCD2):c.3925T>G (p.Cys1309Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.3934C>T (p.Leu1312Phe)
|
rs2125090749
|
|
|
NM_001018115.3(FANCD2):c.3946A>C (p.Ser1316Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.3958C>T (p.His1320Tyr)
|
rs2125090799
|
|
|
NM_001018115.3(FANCD2):c.3962G>A (p.Arg1321Gln)
|
rs147205530
|
|
|
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro)
|
rs147205530
|
|
|
NM_001018115.3(FANCD2):c.3963+10A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3963+14G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3963+15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3963+16A>T
|
|
|
|
NM_001018115.3(FANCD2):c.3963+19G>A
|
rs2125090870
|
|
|
NM_001018115.3(FANCD2):c.3963_3963+1inv
|
|
|
|
NM_001018115.3(FANCD2):c.3970G>A (p.Val1324Ile)
|
|
|
|
NM_001018115.3(FANCD2):c.3972T>C (p.Val1324=)
|
|
|
|
NM_001018115.3(FANCD2):c.3981A>G (p.Leu1327=)
|
|
|
|
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3999G>A (p.Leu1333=)
|
rs1694883609
|
|
|
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs)
|
|
|
|
NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)
|
|
|
|
NM_001018115.3(FANCD2):c.4016A>C (p.His1339Pro)
|
rs1559408827
|
|
|
NM_001018115.3(FANCD2):c.4021C>T (p.Leu1341=)
|
|
|
|
NM_001018115.3(FANCD2):c.4022T>G (p.Leu1341Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.4038+10_4038+11dup
|
|
|
|
NM_001018115.3(FANCD2):c.4038+11G>C
|
|
|
|
NM_001018115.3(FANCD2):c.4038+12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4038+20C>T
|
|
|
|
NM_001018115.3(FANCD2):c.4038+2T>G
|
|
|
|
NM_001018115.3(FANCD2):c.4039-12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4039-2A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4059C>T (p.Leu1353=)
|
|
|
|
NM_001018115.3(FANCD2):c.405C>T (p.Leu135=)
|
|
|
|
NM_001018115.3(FANCD2):c.4062C>G (p.Thr1354=)
|
|
|
|
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
|
|
|
|
NM_001018115.3(FANCD2):c.4105T>G (p.Cys1369Gly)
|
rs995972011
|
|
|
NM_001018115.3(FANCD2):c.4106G>A (p.Cys1369Tyr)
|
|
|
|
NM_001018115.3(FANCD2):c.4112T>A (p.Val1371Asp)
|
rs2125095439
|
|
|
NM_001018115.3(FANCD2):c.4120A>G (p.Met1374Val)
|
|
|
|
NM_001018115.3(FANCD2):c.4126A>G (p.Thr1376Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.4128T>C (p.Thr1376=)
|
|
|
|
NM_001018115.3(FANCD2):c.4128_4131dup (p.Asn1378fs)
|
|
|
|
NM_001018115.3(FANCD2):c.412C>T (p.Leu138=)
|
|
|
|
NM_001018115.3(FANCD2):c.4131C>T (p.Leu1377=)
|
rs2125095502
|
|
|
NM_001018115.3(FANCD2):c.4132A>C (p.Asn1378His)
|
|
|
|
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
|
rs752376206
|
|
|
NM_001018115.3(FANCD2):c.4138T>C (p.Cys1380Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter)
|
rs954149471
|
|
|
NM_001018115.3(FANCD2):c.4161C>A (p.Gly1387=)
|
|
|
|
NM_001018115.3(FANCD2):c.4167A>G (p.Leu1389=)
|
rs2125095618
|
|
|
NM_001018115.3(FANCD2):c.4171A>C (p.Asn1391His)
|
rs1694972063
|
|
|
NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)
|
|
|
|
NM_001018115.3(FANCD2):c.4176G>A (p.Arg1392=)
|
|
|
|
NM_001018115.3(FANCD2):c.4185+10G>A
|
|
|
|
NM_001018115.3(FANCD2):c.4185+12A>T
|
|
|
|
NM_001018115.3(FANCD2):c.4185+5G>T
|
rs2125095695
|
|
|
NM_001018115.3(FANCD2):c.4186-10T>G
|
|
|
|
NM_001018115.3(FANCD2):c.4186-11T>C
|
|
|
|
NM_001018115.3(FANCD2):c.4186-12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4186-14C>T
|
rs1379128834
|
|
|
NM_001018115.3(FANCD2):c.4186-16G>A
|
|
|
|
NM_001018115.3(FANCD2):c.4194G>A (p.Glu1398=)
|
|
|
|
NM_001018115.3(FANCD2):c.4202C>T (p.Ser1401Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.4210T>A (p.Ser1404Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.4232A>C (p.Glu1411Ala)
|
rs753252480
|
|
|
NM_001018115.3(FANCD2):c.4233G>A (p.Glu1411=)
|
|
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
|
NM_001018115.3(FANCD2):c.4239G>A (p.Glu1413=)
|
|
|
|
NM_001018115.3(FANCD2):c.4245C>T (p.Asp1415=)
|
|
|
|
NM_001018115.3(FANCD2):c.4254C>G (p.Ser1418=)
|
|
|
|
NM_001018115.3(FANCD2):c.4257G>A (p.Gln1419=)
|
|
|
|
NM_001018115.3(FANCD2):c.4263dup (p.Lys1422fs)
|
|
|
|
NM_001018115.3(FANCD2):c.4264A>C (p.Lys1422Gln)
|
rs1695131902
|
|
|
NM_001018115.3(FANCD2):c.426T>A (p.Ile142=)
|
|
|
|
NM_001018115.3(FANCD2):c.4281+111A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4281+132A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4281+132A>T
|
|
|
|
NM_001018115.3(FANCD2):c.4281+16C>T
|
rs1695133266
|
|
|
NM_001018115.3(FANCD2):c.4281+18A>G
|
rs753560188
|
|
|
NM_001018115.3(FANCD2):c.4281+1del
|
|
|
|
NM_001018115.3(FANCD2):c.4281+58C>T
|
|
|
|
NM_001018115.3(FANCD2):c.4281+65G>A
|
|
|
|
NM_001018115.3(FANCD2):c.4281+72C>T
|
|
|
|
NM_001018115.3(FANCD2):c.4281+90T>C
|
|
|
|
NM_001018115.3(FANCD2):c.4281+96T>C
|
|
|
|
NM_001018115.3(FANCD2):c.4281+9A>G
|
|
|
|
NM_001018115.3(FANCD2):c.438+7C>A
|
|
|
|
NM_001018115.3(FANCD2):c.438+8dup
|
rs2124976192
|
|
|
NM_001018115.3(FANCD2):c.438+9G>A
|
|
|
|
NM_001018115.3(FANCD2):c.438+9_438+10del
|
|
|
|
NM_001018115.3(FANCD2):c.439-14G>T
|
rs778758088
|
|
|
NM_001018115.3(FANCD2):c.439-16A>C
|
|
|
|
NM_001018115.3(FANCD2):c.439-17T>G
|
|
|
|
NM_001018115.3(FANCD2):c.439-18C>G
|
|
|
|
NM_001018115.3(FANCD2):c.444C>G (p.Ala148=)
|
rs2124978509
|
|
|
NM_001018115.3(FANCD2):c.44G>C (p.Ser15Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.455C>A (p.Thr152Asn)
|
rs150444770
|
|
|
NM_001018115.3(FANCD2):c.456C>T (p.Thr152=)
|
|
|
|
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)
|
|
|
|
NM_001018115.3(FANCD2):c.45C>T (p.Ser15=)
|
|
|
|
NM_001018115.3(FANCD2):c.461T>G (p.Phe154Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.477A>G (p.Glu159=)
|
|
|
|
NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.486T>G (p.Phe162Leu)
|
rs2086730814
|
|
|
NM_001018115.3(FANCD2):c.491+10G>C
|
rs17032279
|
|
|
NM_001018115.3(FANCD2):c.491+11T>C
|
|
|
|
NM_001018115.3(FANCD2):c.491+19G>A
|
|
|
|
NM_001018115.3(FANCD2):c.491+19G>C
|
|
|
|
NM_001018115.3(FANCD2):c.491+9C>T
|
rs370232992
|
|
|
NM_001018115.3(FANCD2):c.492-13C>T
|
|
|
|
NM_001018115.3(FANCD2):c.492-7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.492-8C>T
|
|
|
|
NM_001018115.3(FANCD2):c.498C>T (p.Asn166=)
|
|
|
|
NM_001018115.3(FANCD2):c.503A>G (p.Asp168Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.510C>T (p.Ile170=)
|
|
|
|
NM_001018115.3(FANCD2):c.519T>C (p.Pro173=)
|
|
|
|
NM_001018115.3(FANCD2):c.527T>C (p.Ile176Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.531C>G (p.Val177=)
|
rs747006885
|
|
|
NM_001018115.3(FANCD2):c.537A>G (p.Gln179=)
|
|
|
|
NM_001018115.3(FANCD2):c.550G>T (p.Asp184Tyr)
|
rs2086806903
|
|
|
NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)
|
|
|
|
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs)
|
rs1553607671
|
|
|
NM_001018115.3(FANCD2):c.561G>A (p.Val187=)
|
|
|
|
NM_001018115.3(FANCD2):c.570+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.570+15T>C
|
|
|
|
NM_001018115.3(FANCD2):c.570+15T>G
|
|
|
|
NM_001018115.3(FANCD2):c.570+20C>G
|
|
|
|
NM_001018115.3(FANCD2):c.570+9A>G
|
|
|
|
NM_001018115.3(FANCD2):c.571-15T>A
|
|
|
|
NM_001018115.3(FANCD2):c.571-15T>C
|
|
|
|
NM_001018115.3(FANCD2):c.571-20A>C
|
|
|
|
NM_001018115.3(FANCD2):c.571-2A>G
|
|
|
|
NM_001018115.3(FANCD2):c.571-4G>A
|
|
|
|
NM_001018115.3(FANCD2):c.571-4G>T
|
|
|
|
NM_001018115.3(FANCD2):c.571-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.571G>A (p.Asp191Asn)
|
rs1257501671
|
|
|
NM_001018115.3(FANCD2):c.595C>T (p.Leu199=)
|
rs756336462
|
|
|
NM_001018115.3(FANCD2):c.600C>T (p.Ile200=)
|
|
|
|
NM_001018115.3(FANCD2):c.604A>G (p.Ile202Val)
|
rs2124985132
|
|
|
NM_001018115.3(FANCD2):c.60C>T (p.Ala20=)
|
|
|
|
NM_001018115.3(FANCD2):c.618C>T (p.Asn206=)
|
|
|
|
NM_001018115.3(FANCD2):c.62C>G (p.Ser21Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.633C>T (p.Ile211=)
|
|
|
|
NM_001018115.3(FANCD2):c.634A>G (p.Ile212Val)
|
rs2124985240
|
|
|
NM_001018115.3(FANCD2):c.64+10T>G
|
|
|
|
NM_001018115.3(FANCD2):c.64+1_64+2del
|
rs777719596
|
|
|
NM_001018115.3(FANCD2):c.64+2T>G
|
rs2124961184
|
|
|
NM_001018115.3(FANCD2):c.64+7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.64+8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.64+8_64+11del
|
|
|
|
NM_001018115.3(FANCD2):c.645A>G (p.Leu215=)
|
|
|
|
NM_001018115.3(FANCD2):c.65-17A>T
|
|
|
|
NM_001018115.3(FANCD2):c.65-1G>T
|
|
|
|
NM_001018115.3(FANCD2):c.65-20G>A
|
|
|
|
NM_001018115.3(FANCD2):c.65-8A>G
|
|
|
|
NM_001018115.3(FANCD2):c.654C>A (p.Ile218=)
|
|
|
|
NM_001018115.3(FANCD2):c.666C>T (p.Ser222=)
|
|
|
|
NM_001018115.3(FANCD2):c.667C>G (p.Gln223Glu)
|
rs1307143430
|
|
|
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.673G>A (p.Ala225Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.678T>C (p.Asp226=)
|
|
|
|
NM_001018115.3(FANCD2):c.687A>G (p.Lys229=)
|
|
|
|
NM_001018115.3(FANCD2):c.694_695+14del
|
|
|
|
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
|
|
|
|
NM_001018115.3(FANCD2):c.695+11C>A
|
|
|
|
NM_001018115.3(FANCD2):c.695+12C>G
|
|
|
|
NM_001018115.3(FANCD2):c.695+12C>T
|
|
|
|
NM_001018115.3(FANCD2):c.695+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.695+2T>A
|
|
|
|
NM_001018115.3(FANCD2):c.695+5A>G
|
|
|
|
NM_001018115.3(FANCD2):c.695+6_695+11del
|
rs2124985470
|
|
|
NM_001018115.3(FANCD2):c.695+8_695+9dup
|
|
|
|
NM_001018115.3(FANCD2):c.696-7T>C
|
|
|
|
NM_001018115.3(FANCD2):c.696-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.696T>C (p.Ser232=)
|
|
|
|
NM_001018115.3(FANCD2):c.700C>T (p.Leu234=)
|
|
|
|
NM_001018115.3(FANCD2):c.703C>T (p.Leu235=)
|
|
|
|
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)
|
rs2086865775
|
|
|
NM_001018115.3(FANCD2):c.714T>C (p.Asn238=)
|
|
|
|
NM_001018115.3(FANCD2):c.723C>T (p.Leu241=)
|
rs1158546653
|
|
|
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs)
|
|
|
|
NM_001018115.3(FANCD2):c.733A>G (p.Ile245Val)
|
|
|
|
NM_001018115.3(FANCD2):c.736C>T (p.Leu246=)
|
|
|
|
NM_001018115.3(FANCD2):c.745C>T (p.Leu249Phe)
|
|
|
|
NM_001018115.3(FANCD2):c.74A>G (p.Lys25Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.758G>A (p.Arg253Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.769A>G (p.Asn257Asp)
|
|
|
|
NM_001018115.3(FANCD2):c.775del (p.Leu259fs)
|
rs2124989402
|
|
|
NM_001018115.3(FANCD2):c.777A>C (p.Leu259=)
|
|
|
|
NM_001018115.3(FANCD2):c.777A>G (p.Leu259=)
|
|
|
|
NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)
|
|
|
|
NM_001018115.3(FANCD2):c.783+13C>T
|
|
|
|
NM_001018115.3(FANCD2):c.783+16C>G
|
|
|
|
NM_001018115.3(FANCD2):c.783+16C>T
|
|
|
|
NM_001018115.3(FANCD2):c.783+6A>G
|
|
|
|
NM_001018115.3(FANCD2):c.783+7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.784-12T>C
|
|
|
|
NM_001018115.3(FANCD2):c.784-3T>G
|
rs2086891718
|
|
|
NM_001018115.3(FANCD2):c.784G>A (p.Val262Ile)
|
|
|
|
NM_001018115.3(FANCD2):c.787C>T (p.Arg263Cys)
|
|
|
|
NM_001018115.3(FANCD2):c.788G>A (p.Arg263His)
|
|
|
|
NM_001018115.3(FANCD2):c.796_798del (p.Val266del)
|
|
|
|
NM_001018115.3(FANCD2):c.798G>A (p.Val266=)
|
|
|
|
NM_001018115.3(FANCD2):c.799A>T (p.Met267Leu)
|
|
|
|
NM_001018115.3(FANCD2):c.803A>G (p.Asp268Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.807G>C (p.Lys269Asn)
|
|
|
|
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del)
|
rs748327074
|
|
|
NM_001018115.3(FANCD2):c.816T>A (p.Ser272=)
|
|
|
|
NM_001018115.3(FANCD2):c.81A>G (p.Pro27=)
|
|
|
|
NM_001018115.3(FANCD2):c.823T>C (p.Leu275=)
|
|
|
|
NM_001018115.3(FANCD2):c.831T>C (p.Asp277=)
|
|
|
|
NM_001018115.3(FANCD2):c.846A>C (p.Ile282=)
|
|
|
|
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)
|
|
|
|
NM_001018115.3(FANCD2):c.853A>G (p.Ile285Val)
|
rs2124991389
|
|
|
NM_001018115.3(FANCD2):c.855T>C (p.Ile285=)
|
|
|
|
NM_001018115.3(FANCD2):c.875T>G (p.Met292Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.888+10T>C
|
|
|
|
NM_001018115.3(FANCD2):c.888+12T>C
|
|
|
|
NM_001018115.3(FANCD2):c.888+13A>G
|
|
|
|
NM_001018115.3(FANCD2):c.888+16C>T
|
|
|
|
NM_001018115.3(FANCD2):c.888+1G>A
|
|
|
|
NM_001018115.3(FANCD2):c.888+20C>G
|
|
|
|
NM_001018115.3(FANCD2):c.888+3A>G
|
|
|
|
NM_001018115.3(FANCD2):c.888+9T>G
|
rs777620616
|
|
|
NM_001018115.3(FANCD2):c.888G>A (p.Glu296=)
|
|
|
|
NM_001018115.3(FANCD2):c.889-20C>T
|
|
|
|
NM_001018115.3(FANCD2):c.889-2A>G
|
|
|
|
NM_001018115.3(FANCD2):c.889-7T>C
|
rs2086903764
|
|
|
NM_001018115.3(FANCD2):c.897T>C (p.Ser299=)
|
rs2124992189
|
|
|
NM_001018115.3(FANCD2):c.905G>C (p.Arg302Pro)
|
rs755797932
|
|
|
NM_001018115.3(FANCD2):c.906G>A (p.Arg302=)
|
|
|
|
NM_001018115.3(FANCD2):c.919C>G (p.Leu307Val)
|
rs1486958347
|
|
|
NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.927T>C (p.His309=)
|
|
|
|
NM_001018115.3(FANCD2):c.929G>T (p.Cys310Phe)
|
rs1251711461
|
|
|
NM_001018115.3(FANCD2):c.944G>A (p.Arg315Gln)
|
|
|
|
NM_001018115.3(FANCD2):c.950A>G (p.Gln317Arg)
|
|
|
|
NM_001018115.3(FANCD2):c.952G>A (p.Ala318Thr)
|
|
|
|
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)
|
rs121917788
|
|
|
NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)
|
|
|
|
NM_001018115.3(FANCD2):c.962T>G (p.Val321Gly)
|
|
|
|
NM_001018115.3(FANCD2):c.967T>C (p.Leu323=)
|
|
|
|
NM_001018115.3(FANCD2):c.969G>A (p.Leu323=)
|
|
|
|
NM_001018115.3(FANCD2):c.973A>C (p.Ser325Arg)
|
rs2124992404
|
|
|
NM_001018115.3(FANCD2):c.978A>C (p.Lys326Asn)
|
rs200193941
|
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
|
NM_001018115.3(FANCD2):c.984A>G (p.Arg328=)
|
|
|
|
NM_001018115.3(FANCD2):c.989+11C>T
|
|
|
|
NM_001018115.3(FANCD2):c.989+3A>G
|
|
|
|
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)
|
|
|
|
NM_001018115.3(FANCD2):c.990-10C>A
|
|
|
|
NM_001018115.3(FANCD2):c.990-11G>T
|
|
|
|
NM_001018115.3(FANCD2):c.990-13C>T
|
|
|
|
NM_001018115.3(FANCD2):c.990-15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.990-5T>C
|
|
|
|
NM_001018115.3(FANCD2):c.996A>C (p.Ser332=)
|
|
|
|
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)
|
rs1283566463
|
|
|
NM_001022.3(RPS19):c.-146_-145insGCCA
|
rs34020014
|
|
|
NM_001022.4(RPS19):c.-1+26G>T
|
rs74449035
|
|
|
NM_001022.4(RPS19):c.101del (p.Val34fs)
|
|
|
|
NM_001022.4(RPS19):c.108C>T (p.Thr36=)
|
|
|
|
NM_001022.4(RPS19):c.114G>A (p.Lys38=)
|
|
|
|
NM_001022.4(RPS19):c.120C>G (p.Ala40=)
|
|
|
|
NM_001022.4(RPS19):c.132G>A (p.Glu44=)
|
|
|
|
NM_001022.4(RPS19):c.13dup (p.Thr5fs)
|
rs149420497
|
|
|
NM_001022.4(RPS19):c.141C>T (p.Pro47=)
|
|
|
|
NM_001022.4(RPS19):c.145G>C (p.Asp49His)
|
|
|
|
NM_001022.4(RPS19):c.15T>A (p.Thr5=)
|
rs2123256038
|
|
|
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
|
|
|
|
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
|
|
|
|
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)
|
rs2074020491
|
|
|
NM_001022.4(RPS19):c.172+17T>C
|
|
|
|
NM_001022.4(RPS19):c.173-16C>T
|
|
|
|
NM_001022.4(RPS19):c.173-1G>T
|
rs2123283622
|
|
|
NM_001022.4(RPS19):c.173-20C>G
|
|
|
|
NM_001022.4(RPS19):c.173-20C>T
|
|
|
|
NM_001022.4(RPS19):c.173-2A>G
|
rs111833764
|
|
|
NM_001022.4(RPS19):c.173-6C>T
|
|
|
|
NM_001022.4(RPS19):c.173-8_173-7delinsTT
|
rs2123283596
|
|
|
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu)
|
rs1600621092
|
|
|
NM_001022.4(RPS19):c.182C>T (p.Ala61Val)
|
|
|
|
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.199C>T (p.Arg67Trp)
|
|
|
|
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
|
|
|
|
NM_001022.4(RPS19):c.200G>A (p.Arg67Gln)
|
|
|
|
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
|
|
|
|
NM_001022.4(RPS19):c.214G>T (p.Val72Phe)
|
rs1600621248
|
|
|
NM_001022.4(RPS19):c.226A>G (p.Thr76Ala)
|
|
|
|
NM_001022.4(RPS19):c.245G>A (p.Arg82His)
|
rs782814286
|
|
|
NM_001022.4(RPS19):c.245G>T (p.Arg82Leu)
|
|
|
|
NM_001022.4(RPS19):c.257dup (p.Val87fs)
|
rs2074118749
|
|
|
NM_001022.4(RPS19):c.25G>A (p.Val9Met)
|
|
|
|
NM_001022.4(RPS19):c.266C>G (p.Pro89Arg)
|
|
|
|
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
|
|
|
|
NM_001022.4(RPS19):c.281G>A (p.Arg94Gln)
|
|
|
|
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
|
|
|
|
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs)
|
rs1555841356
|
|
|
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
|
|
|
|
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
|
|
|
|
NM_001022.4(RPS19):c.305G>A (p.Arg102Gln)
|
|
|
|
NM_001022.4(RPS19):c.308T>A (p.Val103Asp)
|
rs1131691437
|
|
|
NM_001022.4(RPS19):c.317C>T (p.Ala106Val)
|
rs2074119741
|
|
|
NM_001022.4(RPS19):c.328C>G (p.Leu110Val)
|
|
|
|
NM_001022.4(RPS19):c.330G>A (p.Leu110=)
|
rs2123284228
|
|
|
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
|
|
|
|
NM_001022.4(RPS19):c.347del (p.Asp116fs)
|
|
|
|
NM_001022.4(RPS19):c.356+12A>G
|
|
|
|
NM_001022.4(RPS19):c.356+13G>T
|
|
|
|
NM_001022.4(RPS19):c.356+14delinsGG
|
|
|
|
NM_001022.4(RPS19):c.356+15G>A
|
|
|
|
NM_001022.4(RPS19):c.356+169CT[2]
|
rs369353222
|
|
|
NM_001022.4(RPS19):c.356+18G>C
|
rs61762294
|
|
|
NM_001022.4(RPS19):c.356+18G>T
|
rs61762294
|
|
|
NM_001022.4(RPS19):c.356+19G>A
|
|
|
|
NM_001022.4(RPS19):c.356+1G>A
|
rs879993801
|
|
|
NM_001022.4(RPS19):c.356+5G>A
|
|
|
|
NM_001022.4(RPS19):c.357-10C>T
|
|
|
|
NM_001022.4(RPS19):c.357-2A>G
|
|
|
|
NM_001022.4(RPS19):c.357-3C>A
|
|
|
|
NM_001022.4(RPS19):c.358G>A (p.Gly120Ser)
|
|
|
|
NM_001022.4(RPS19):c.365A>G (p.Lys122Arg)
|
|
|
|
NM_001022.4(RPS19):c.373C>A (p.Pro125Thr)
|
|
|
|
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)
|
rs786200936
|
|
|
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)
|
rs1060503688
|
|
|
NM_001022.4(RPS19):c.384_385del (p.Asp130fs)
|
rs869066130
|
|
|
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
|
|
|
|
NM_001022.4(RPS19):c.392T>G (p.Leu131Arg)
|
|
|
|
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.402C>T (p.Ile134=)
|
|
|
|
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)
|
rs144337183
|
|
|
NM_001022.4(RPS19):c.409C>T (p.Gln137Ter)
|
|
|
|
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
|
rs782608155
|
|
|
NM_001022.4(RPS19):c.411+11C>T
|
|
|
|
NM_001022.4(RPS19):c.411+19G>A
|
|
|
|
NM_001022.4(RPS19):c.411+20T>G
|
|
|
|
NM_001022.4(RPS19):c.411+3A>G
|
rs2123286000
|
|
|
NM_001022.4(RPS19):c.411+6G>T
|
|
|
|
NM_001022.4(RPS19):c.412-2A>G
|
|
|
|
NM_001022.4(RPS19):c.412-3C>T
|
|
|
|
NM_001022.4(RPS19):c.412-8_412-1dup
|
rs2123290691
|
|
|
NM_001022.4(RPS19):c.49G>A (p.Ala17Thr)
|
|
|
|
NM_001022.4(RPS19):c.52C>T (p.Leu18=)
|
|
|
|
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)
|
rs2074021310
|
|
|
NM_001022.4(RPS19):c.57A>G (p.Ala19=)
|
rs2123256237
|
|
|
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)
|
rs2123256254
|
|
|
NM_001022.4(RPS19):c.64C>T (p.Leu22Phe)
|
|
|
|
NM_001022.4(RPS19):c.71+12del
|
rs886054470
|
|
|
NM_001022.4(RPS19):c.71+18G>A
|
|
|
|
NM_001022.4(RPS19):c.71+1G>C
|
rs2123256342
|
|
|
NM_001022.4(RPS19):c.72-10T>G
|
rs1176399879
|
|
|
NM_001022.4(RPS19):c.72-15C>G
|
rs530537278
|
|
|
NM_001022.4(RPS19):c.72-15C>T
|
|
|
|
NM_001022.4(RPS19):c.72-1G>A
|
rs146366047
|
|
|
NM_001022.4(RPS19):c.75C>T (p.Ser25=)
|
rs370343297
|
|
|
NM_001022.4(RPS19):c.80A>G (p.Lys27Arg)
|
|
|
|
NM_001022.4(RPS19):c.90C>G (p.Val30=)
|
|
|
|
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.-22C>G
|
rs1131017
|
|
|
NM_001029.5(RPS26):c.120C>A (p.Val40=)
|
|
|
|
NM_001029.5(RPS26):c.120C>G (p.Val40=)
|
|
|
|
NM_001029.5(RPS26):c.129C>T (p.Asn43=)
|
|
|
|
NM_001029.5(RPS26):c.144A>G (p.Ala48=)
|
rs150715896
|
|
|
NM_001029.5(RPS26):c.144A>T (p.Ala48=)
|
|
|
|
NM_001029.5(RPS26):c.157A>G (p.Ile53Val)
|
rs1295092646
|
|
|
NM_001029.5(RPS26):c.170G>A (p.Ser57Asn)
|
|
|
|
NM_001029.5(RPS26):c.181+19C>G
|
rs201040758
|
|
|
NM_001029.5(RPS26):c.181+6_181+7del
|
rs746906342
|
|
|
NM_001029.5(RPS26):c.181+8G>C
|
|
|
|
NM_001029.5(RPS26):c.182-16_182-15del
|
|
|
|
NM_001029.5(RPS26):c.182-20C>T
|
|
|
|
NM_001029.5(RPS26):c.182-9A>G
|
|
|
|
NM_001029.5(RPS26):c.183C>G (p.Ala61=)
|
|
|
|
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.201G>A (p.Leu67=)
|
rs1371451613
|
|
|
NM_001029.5(RPS26):c.213A>G (p.Leu71=)
|
|
|
|
NM_001029.5(RPS26):c.224_225del (p.Val75fs)
|
rs1555208596
|
|
|
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)
|
rs148942765
|
|
|
NM_001029.5(RPS26):c.274C>T (p.Arg92Cys)
|
|
|
|
NM_001029.5(RPS26):c.288A>G (p.Thr96=)
|
|
|
|
NM_001029.5(RPS26):c.2T>G (p.Met1Arg)
|
rs1895894261
|
|
|
NM_001029.5(RPS26):c.3+10C>T
|
|
|
|
NM_001029.5(RPS26):c.3+12T>C
|
|
|
|
NM_001029.5(RPS26):c.3+13G>T
|
rs199917474
|
|
|
NM_001029.5(RPS26):c.3+14C>A
|
|
|
|
NM_001029.5(RPS26):c.3+14C>G
|
rs763770729
|
|
|
NM_001029.5(RPS26):c.3+2T>G
|
rs2136753495
|
|
|
NM_001029.5(RPS26):c.3+4A>C
|
|
|
|
NM_001029.5(RPS26):c.3+7C>G
|
rs115750993
|
|
|
NM_001029.5(RPS26):c.3+7C>T
|
rs115750993
|
|
|
NM_001029.5(RPS26):c.3+9T>A
|
rs545595719
|
|
|
NM_001029.5(RPS26):c.312+3G>A
|
|
|
|
NM_001029.5(RPS26):c.312+7A>G
|
|
|
|
NM_001029.5(RPS26):c.313-10dup
|
|
|
|
NM_001029.5(RPS26):c.313-17_313-14del
|
rs771654280
|
|
|
NM_001029.5(RPS26):c.313-7C>T
|
|
|
|
NM_001029.5(RPS26):c.317C>G (p.Ala106Gly)
|
|
|
|
NM_001029.5(RPS26):c.327T>C (p.Arg109=)
|
rs56696262
|
|
|
NM_001029.5(RPS26):c.328C>T (p.Pro110Ser)
|
|
|
|
NM_001029.5(RPS26):c.332C>T (p.Pro111Leu)
|
|
|
|
NM_001029.5(RPS26):c.333A>T (p.Pro111=)
|
rs1179423823
|
|
|
NM_001029.5(RPS26):c.336A>G (p.Pro112=)
|
|
|
|
NM_001029.5(RPS26):c.4-10C>T
|
|
|
|
NM_001029.5(RPS26):c.4-13C>T
|
rs962158538
|
|
|
NM_001029.5(RPS26):c.4-1_6del
|
|
|
|
NM_001029.5(RPS26):c.4-4G>T
|
rs2136753773
|
|
|
NM_001029.5(RPS26):c.4-7G>C
|
rs1288899882
|
|
|
NM_001029.5(RPS26):c.4-8_4-7delinsCT
|
|
|
|
NM_001029.5(RPS26):c.64C>G (p.Arg22Gly)
|
rs762701251
|
|
|
NM_001029.5(RPS26):c.65G>A (p.Arg22His)
|
|
|
|
NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)
|
|
|
|
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)
|
rs2136753850
|
|
|
NM_001029.5(RPS26):c.77G>A (p.Cys26Tyr)
|
|
|
|
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
|
|
|
|
NM_001029.5(RPS26):c.93C>G (p.Pro31=)
|
|
|
|
NM_001029.5(RPS26):c.95A>C (p.Lys32Thr)
|
|
|
|
NM_001029.5(RPS26):c.96G>A (p.Lys32=)
|
rs1472827120
|
|
|
NM_001029.5(RPS26):c.9G>C (p.Lys3Asn)
|
|
|
|
NM_001029.5(RPS26):c.9_12del (p.Lys4fs)
|
rs2136753785
|
|
|
NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile)
|
rs1222471181
|
|
|
NM_001113378.2(FANCI):c.1008G>A (p.Lys336=)
|
|
|
|
NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu)
|
rs1432524532
|
|
|
NM_001113378.2(FANCI):c.1011C>T (p.Ser337=)
|
|
|
|
NM_001113378.2(FANCI):c.1013T>C (p.Phe338Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del)
|
rs770583031
|
|
|
NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)
|
|
|
|
NM_001113378.2(FANCI):c.1044A>G (p.Lys348=)
|
rs2151452858
|
|
|
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1053G>T (p.Gln351His)
|
|
|
|
NM_001113378.2(FANCI):c.1059A>C (p.Leu353=)
|
|
|
|
NM_001113378.2(FANCI):c.1064C>G (p.Pro355Arg)
|
|
|
|
NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys)
|
|
|
|
NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu)
|
|
|
|
NM_001113378.2(FANCI):c.1070G>T (p.Arg357Ile)
|
rs2151453139
|
|
|
NM_001113378.2(FANCI):c.1074T>C (p.Ser358=)
|
|
|
|
NM_001113378.2(FANCI):c.1074T>G (p.Ser358=)
|
|
|
|
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn)
|
rs1429851841
|
|
|
NM_001113378.2(FANCI):c.1077T>C (p.Tyr359=)
|
|
|
|
NM_001113378.2(FANCI):c.1082C>T (p.Ser361Leu)
|
rs2151453253
|
|
|
NM_001113378.2(FANCI):c.1101A>G (p.Val367=)
|
|
|
|
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1107G>A (p.Lys369=)
|
|
|
|
NM_001113378.2(FANCI):c.1110T>C (p.Asn370=)
|
|
|
|
NM_001113378.2(FANCI):c.1112+13_1112+14insAGATATGAA
|
|
|
|
NM_001113378.2(FANCI):c.1112+14C>G
|
|
|
|
NM_001113378.2(FANCI):c.1112+16A>G
|
|
|
|
NM_001113378.2(FANCI):c.1112+7del
|
|
|
|
NM_001113378.2(FANCI):c.1113-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.1113-1G>A
|
rs2151485792
|
|
|
NM_001113378.2(FANCI):c.1113-20T>C
|
|
|
|
NM_001113378.2(FANCI):c.1118A>G (p.His373Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1119T>C (p.His373=)
|
|
|
|
NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe)
|
rs1216132878
|
|
|
NM_001113378.2(FANCI):c.1134T>C (p.Val378=)
|
rs1201574474
|
|
|
NM_001113378.2(FANCI):c.1140G>A (p.Gln380=)
|
rs1056588286
|
|
|
NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile)
|
|
|
|
NM_001113378.2(FANCI):c.1149A>G (p.Val383=)
|
|
|
|
NM_001113378.2(FANCI):c.114G>A (p.Val38=)
|
rs769209297
|
|
|
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
|
|
|
|
NM_001113378.2(FANCI):c.1158T>G (p.Gly386=)
|
rs2151486340
|
|
|
NM_001113378.2(FANCI):c.1161C>T (p.Phe387=)
|
rs2151486354
|
|
|
NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val)
|
|
|
|
NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr)
|
rs1174812931
|
|
|
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1182G>A (p.Gly394=)
|
|
|
|
NM_001113378.2(FANCI):c.1185A>G (p.Pro395=)
|
|
|
|
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu)
|
rs2053427139
|
|
|
NM_001113378.2(FANCI):c.1194T>C (p.Val398=)
|
|
|
|
NM_001113378.2(FANCI):c.1198G>C (p.Asp400His)
|
|
|
|
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
|
|
|
|
NM_001113378.2(FANCI):c.1203A>T (p.Gly401=)
|
|
|
|
NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1218C>T (p.Thr406=)
|
|
|
|
NM_001113378.2(FANCI):c.1221C>G (p.Ser407Arg)
|
rs2151486786
|
|
|
NM_001113378.2(FANCI):c.1222C>A (p.Pro408Thr)
|
rs1281730489
|
|
|
NM_001113378.2(FANCI):c.1222C>T (p.Pro408Ser)
|
|
|
|
NM_001113378.2(FANCI):c.123A>G (p.Lys41=)
|
|
|
|
NM_001113378.2(FANCI):c.1251T>C (p.His417=)
|
rs2151487041
|
|
|
NM_001113378.2(FANCI):c.1254A>C (p.Ala418=)
|
|
|
|
NM_001113378.2(FANCI):c.1254A>G (p.Ala418=)
|
|
|
|
NM_001113378.2(FANCI):c.1254A>T (p.Ala418=)
|
rs772465377
|
|
|
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)
|
rs376956791
|
|
|
NM_001113378.2(FANCI):c.1266A>G (p.Gly422=)
|
|
|
|
NM_001113378.2(FANCI):c.126T>C (p.Val42=)
|
|
|
|
NM_001113378.2(FANCI):c.1272T>C (p.Asn424=)
|
|
|
|
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)
|
rs775228768
|
|
|
NM_001113378.2(FANCI):c.1275C>T (p.Ile425=)
|
|
|
|
NM_001113378.2(FANCI):c.1278G>C (p.Leu426=)
|
|
|
|
NM_001113378.2(FANCI):c.1278G>T (p.Leu426=)
|
rs1060504377
|
|
|
NM_001113378.2(FANCI):c.1293+11A>G
|
|
|
|
NM_001113378.2(FANCI):c.1293+1G>A
|
rs768310043
|
|
|
NM_001113378.2(FANCI):c.1293+2T>G
|
|
|
|
NM_001113378.2(FANCI):c.1293+7C>T
|
|
|
|
NM_001113378.2(FANCI):c.1293+8A>G
|
|
|
|
NM_001113378.2(FANCI):c.1293+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.1294-11G>A
|
|
|
|
NM_001113378.2(FANCI):c.1294-11G>C
|
rs770915999
|
|
|
NM_001113378.2(FANCI):c.1294-16A>T
|
|
|
|
NM_001113378.2(FANCI):c.1294-17T>C
|
|
|
|
NM_001113378.2(FANCI):c.1294-20A>T
|
|
|
|
NM_001113378.2(FANCI):c.1294-8del
|
|
|
|
NM_001113378.2(FANCI):c.1294-9_1294-8insA
|
rs1555445524
|
|
|
NM_001113378.2(FANCI):c.1294A>G (p.Ile432Val)
|
rs1387369541
|
|
|
NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn)
|
rs1222824065
|
|
|
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs)
|
|
|
|
NM_001113378.2(FANCI):c.1314A>T (p.Gln438His)
|
|
|
|
NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met)
|
|
|
|
NM_001113378.2(FANCI):c.1329G>A (p.Gln443=)
|
|
|
|
NM_001113378.2(FANCI):c.1330G>A (p.Val444Ile)
|
rs1224560872
|
|
|
NM_001113378.2(FANCI):c.1333C>T (p.Leu445Phe)
|
rs2053498951
|
|
|
NM_001113378.2(FANCI):c.1345G>A (p.Val449Ile)
|
|
|
|
NM_001113378.2(FANCI):c.1349C>A (p.Thr450Asn)
|
rs1294189131
|
|
|
NM_001113378.2(FANCI):c.1349C>G (p.Thr450Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1350C>G (p.Thr450=)
|
|
|
|
NM_001113378.2(FANCI):c.1352G>C (p.Arg451Thr)
|
|
|
|
NM_001113378.2(FANCI):c.1354G>A (p.Ala452Thr)
|
|
|
|
NM_001113378.2(FANCI):c.1361C>G (p.Ser454Cys)
|
|
|
|
NM_001113378.2(FANCI):c.1363C>A (p.Pro455Thr)
|
rs2151511659
|
|
|
NM_001113378.2(FANCI):c.1365C>T (p.Pro455=)
|
rs2053499669
|
|
|
NM_001113378.2(FANCI):c.1366A>C (p.Ile456Leu)
|
rs757536456
|
|
|
NM_001113378.2(FANCI):c.1373A>G (p.His458Arg)
|
rs2053499876
|
|
|
NM_001113378.2(FANCI):c.1374T>A (p.His458Gln)
|
rs1183239990
|
|
|
NM_001113378.2(FANCI):c.1381+12T>C
|
|
|
|
NM_001113378.2(FANCI):c.1381+12T>G
|
|
|
|
NM_001113378.2(FANCI):c.1381+1G>T
|
|
|
|
NM_001113378.2(FANCI):c.1381+21_1381+24del
|
|
|
|
NM_001113378.2(FANCI):c.1381+8A>C
|
|
|
|
NM_001113378.2(FANCI):c.1381+8A>G
|
|
|
|
NM_001113378.2(FANCI):c.1382-11C>G
|
|
|
|
NM_001113378.2(FANCI):c.1382-11_1382-10del
|
rs753044978
|
|
|
NM_001113378.2(FANCI):c.1382-18A>G
|
|
|
|
NM_001113378.2(FANCI):c.1382-18A>T
|
rs763617822
|
|
|
NM_001113378.2(FANCI):c.1382-19T>C
|
|
|
|
NM_001113378.2(FANCI):c.1384C>T (p.Leu462=)
|
rs1369888767
|
|
|
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter)
|
rs2151549770
|
|
|
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1410A>T (p.Ala470=)
|
|
|
|
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile)
|
rs2053602523
|
|
|
NM_001113378.2(FANCI):c.1425A>G (p.Gln475=)
|
|
|
|
NM_001113378.2(FANCI):c.1428T>C (p.Ser476=)
|
|
|
|
NM_001113378.2(FANCI):c.1436C>A (p.Ser479Tyr)
|
rs2053602935
|
|
|
NM_001113378.2(FANCI):c.1438A>G (p.Lys480Glu)
|
|
|
|
NM_001113378.2(FANCI):c.1452T>C (p.Ala484=)
|
|
|
|
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro)
|
rs2053603506
|
|
|
NM_001113378.2(FANCI):c.1467C>A (p.Ser489=)
|
rs267604369
|
|
|
NM_001113378.2(FANCI):c.1471C>T (p.Leu491=)
|
|
|
|
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro)
|
rs2053603695
|
|
|
NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg)
|
rs1214081735
|
|
|
NM_001113378.2(FANCI):c.1488A>G (p.Val496=)
|
|
|
|
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys)
|
rs1049036307
|
|
|
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His)
|
rs145349375
|
|
|
NM_001113378.2(FANCI):c.1494G>A (p.Arg498=)
|
|
|
|
NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser)
|
rs767830108
|
|
|
NM_001113378.2(FANCI):c.1506A>C (p.Ala502=)
|
|
|
|
NM_001113378.2(FANCI):c.1512+12G>A
|
|
|
|
NM_001113378.2(FANCI):c.1512+12G>C
|
|
|
|
NM_001113378.2(FANCI):c.1512+16C>G
|
|
|
|
NM_001113378.2(FANCI):c.1512+1G>A
|
rs2151551135
|
|
|
NM_001113378.2(FANCI):c.1512+20A>C
|
|
|
|
NM_001113378.2(FANCI):c.1512+5G>C
|
rs2053605169
|
|
|
NM_001113378.2(FANCI):c.1512G>A (p.Gln504=)
|
rs377762481
|
|
|
NM_001113378.2(FANCI):c.1513-17C>T
|
|
|
|
NM_001113378.2(FANCI):c.1513-9C>A
|
|
|
|
NM_001113378.2(FANCI):c.1513-9C>G
|
|
|
|
NM_001113378.2(FANCI):c.1514C>A (p.Pro505His)
|
rs773105092
|
|
|
NM_001113378.2(FANCI):c.1515C>A (p.Pro505=)
|
|
|
|
NM_001113378.2(FANCI):c.1517T>G (p.Leu506Arg)
|
rs2151558457
|
|
|
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile)
|
rs1011876937
|
|
|
NM_001113378.2(FANCI):c.1531A>C (p.Met511Leu)
|
rs1596285157
|
|
|
NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu)
|
|
|
|
NM_001113378.2(FANCI):c.1541G>A (p.Arg514Lys)
|
|
|
|
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly)
|
rs2053624733
|
|
|
NM_001113378.2(FANCI):c.1550T>G (p.Leu517Trp)
|
|
|
|
NM_001113378.2(FANCI):c.1556T>C (p.Leu519Pro)
|
rs998713167
|
|
|
NM_001113378.2(FANCI):c.1560C>T (p.Val520=)
|
|
|
|
NM_001113378.2(FANCI):c.1564C>A (p.Arg522=)
|
rs371568506
|
|
|
NM_001113378.2(FANCI):c.157+14A>G
|
|
|
|
NM_001113378.2(FANCI):c.157+16G>C
|
|
|
|
NM_001113378.2(FANCI):c.157+19A>T
|
|
|
|
NM_001113378.2(FANCI):c.157+1G>A
|
|
|
|
NM_001113378.2(FANCI):c.157+2TAA[2]
|
|
|
|
NM_001113378.2(FANCI):c.158-15G>C
|
|
|
|
NM_001113378.2(FANCI):c.158-16T>C
|
rs749777770
|
|
|
NM_001113378.2(FANCI):c.158-18C>G
|
|
|
|
NM_001113378.2(FANCI):c.158-18C>T
|
|
|
|
NM_001113378.2(FANCI):c.158-19C>A
|
rs762350003
|
|
|
NM_001113378.2(FANCI):c.158-19C>T
|
|
|
|
NM_001113378.2(FANCI):c.158-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
|
NM_001113378.2(FANCI):c.158-5A>G
|
|
|
|
NM_001113378.2(FANCI):c.158-9A>T
|
|
|
|
NM_001113378.2(FANCI):c.1583+10A>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+12C>T
|
|
|
|
NM_001113378.2(FANCI):c.1583+15T>C
|
|
|
|
NM_001113378.2(FANCI):c.1583+16T>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+19T>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+20A>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+3A>G
|
rs2151559047
|
|
|
NM_001113378.2(FANCI):c.1583+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr)
|
rs2151559017
|
|
|
NM_001113378.2(FANCI):c.1584-13A>G
|
|
|
|
NM_001113378.2(FANCI):c.1584-14T>G
|
rs2151579826
|
|
|
NM_001113378.2(FANCI):c.1584-15C>T
|
|
|
|
NM_001113378.2(FANCI):c.1584-1G>C
|
|
|
|
NM_001113378.2(FANCI):c.1584-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)
|
|
|
|
NM_001113378.2(FANCI):c.1626G>C (p.Leu542=)
|
|
|
|
NM_001113378.2(FANCI):c.1637A>G (p.Asn546Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu)
|
rs2053681482
|
|
|
NM_001113378.2(FANCI):c.163C>T (p.Pro55Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
|
|
|
|
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr)
|
rs2053681603
|
|
|
NM_001113378.2(FANCI):c.1649T>C (p.Leu550Ser)
|
rs2151580534
|
|
|
NM_001113378.2(FANCI):c.1654A>C (p.Ser552Arg)
|
rs1060501899
|
|
|
NM_001113378.2(FANCI):c.1655G>A (p.Ser552Asn)
|
rs1470686039
|
|
|
NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151580463
|
|
|
NM_001113378.2(FANCI):c.1656C>A (p.Ser552Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg)
|
rs1060501901
|
|
|
NM_001113378.2(FANCI):c.1662A>G (p.Ser554=)
|
rs1596287918
|
|
|
NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys)
|
|
|
|
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs)
|
rs2053682638
|
|
|
NM_001113378.2(FANCI):c.1675A>C (p.Ser559Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1675A>G (p.Ser559Gly)
|
|
|
|
NM_001113378.2(FANCI):c.1676G>T (p.Ser559Ile)
|
rs1555446426
|
|
|
NM_001113378.2(FANCI):c.1689T>C (p.Ser563=)
|
|
|
|
NM_001113378.2(FANCI):c.1698+10A>G
|
|
|
|
NM_001113378.2(FANCI):c.1698+11_1698+14del
|
rs763550734
|
|
|
NM_001113378.2(FANCI):c.1698+1G>A
|
|
|
|
NM_001113378.2(FANCI):c.1698+4A>G
|
rs1233338671
|
|
|
NM_001113378.2(FANCI):c.1699-13G>A
|
|
|
|
NM_001113378.2(FANCI):c.1699-15del
|
|
|
|
NM_001113378.2(FANCI):c.1699-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.1699-17G>A
|
|
|
|
NM_001113378.2(FANCI):c.1699-17del
|
rs746745862
|
|
|
NM_001113378.2(FANCI):c.1699-7del
|
|
|
|
NM_001113378.2(FANCI):c.1699-8C>T
|
|
|
|
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro)
|
rs555480773
|
|
|
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)
|
rs555480773
|
|
|
NM_001113378.2(FANCI):c.1708G>A (p.Asp570Asn)
|
|
|
|
NM_001113378.2(FANCI):c.1708G>C (p.Asp570His)
|
rs2053765523
|
|
|
NM_001113378.2(FANCI):c.1713T>C (p.Val571=)
|
|
|
|
NM_001113378.2(FANCI):c.1752C>T (p.Cys584=)
|
|
|
|
NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg)
|
|
|
|
NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met)
|
|
|
|
NM_001113378.2(FANCI):c.1761C>T (p.Ile587=)
|
|
|
|
NM_001113378.2(FANCI):c.1767T>C (p.Asp589=)
|
|
|
|
NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)
|
|
|
|
NM_001113378.2(FANCI):c.1777A>C (p.Arg593=)
|
|
|
|
NM_001113378.2(FANCI):c.1779A>G (p.Arg593=)
|
rs2151610817
|
|
|
NM_001113378.2(FANCI):c.1782C>T (p.Cys594=)
|
|
|
|
NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)
|
|
|
|
NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1797T>G (p.Ala599=)
|
|
|
|
NM_001113378.2(FANCI):c.180T>C (p.Ala60=)
|
rs2151252789
|
|
|
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
|
|
|
|
NM_001113378.2(FANCI):c.1821+13A>G
|
rs2151611385
|
|
|
NM_001113378.2(FANCI):c.1821+15T>C
|
|
|
|
NM_001113378.2(FANCI):c.1821+7C>G
|
|
|
|
NM_001113378.2(FANCI):c.1821+8C>T
|
rs1406084847
|
|
|
NM_001113378.2(FANCI):c.1822-12G>C
|
rs1348604439
|
|
|
NM_001113378.2(FANCI):c.1822-15T>C
|
|
|
|
NM_001113378.2(FANCI):c.1822-16C>A
|
|
|
|
NM_001113378.2(FANCI):c.1822-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.1822-3T>C
|
rs978852872
|
|
|
NM_001113378.2(FANCI):c.1822-6T>C
|
|
|
|
NM_001113378.2(FANCI):c.1822-7del
|
rs1457763718
|
|
|
NM_001113378.2(FANCI):c.1822-8C>G
|
|
|
|
NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn)
|
|
|
|
NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu)
|
rs780853984
|
|
|
NM_001113378.2(FANCI):c.1833T>C (p.Asp611=)
|
rs2151689444
|
|
|
NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe)
|
rs2151689487
|
|
|
NM_001113378.2(FANCI):c.183A>G (p.Gly61=)
|
|
|
|
NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln)
|
|
|
|
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1854G>T (p.Gln618His)
|
|
|
|
NM_001113378.2(FANCI):c.1860T>C (p.Ala620=)
|
|
|
|
NM_001113378.2(FANCI):c.1863T>A (p.Asn621Lys)
|
|
|
|
NM_001113378.2(FANCI):c.1867G>A (p.Val623Ile)
|
rs1174201813
|
|
|
NM_001113378.2(FANCI):c.1870A>G (p.Met624Val)
|
rs772744597
|
|
|
NM_001113378.2(FANCI):c.1871T>C (p.Met624Thr)
|
rs758191165
|
|
|
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs)
|
|
|
|
NM_001113378.2(FANCI):c.1885T>C (p.Ser629Pro)
|
rs753059359
|
|
|
NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu)
|
|
|
|
NM_001113378.2(FANCI):c.1890+12T>C
|
|
|
|
NM_001113378.2(FANCI):c.1890+19G>T
|
|
|
|
NM_001113378.2(FANCI):c.1890+20A>C
|
|
|
|
NM_001113378.2(FANCI):c.1890+8A>G
|
|
|
|
NM_001113378.2(FANCI):c.1890+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.1891-10C>A
|
|
|
|
NM_001113378.2(FANCI):c.1891-10C>T
|
|
|
|
NM_001113378.2(FANCI):c.1891-11A>G
|
|
|
|
NM_001113378.2(FANCI):c.1891-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.1891-14C>G
|
|
|
|
NM_001113378.2(FANCI):c.1891-4A>G
|
|
|
|
NM_001113378.2(FANCI):c.1891-6A>G
|
rs878854175
|
|
|
NM_001113378.2(FANCI):c.1891-8A>G
|
|
|
|
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
|
|
|
|
NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu)
|
|
|
|
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
|
|
|
|
NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln)
|
rs751777082
|
|
|
NM_001113378.2(FANCI):c.1908G>A (p.Glu636=)
|
|
|
|
NM_001113378.2(FANCI):c.1908_1909delinsAG (p.Pro637Ala)
|
|
|
|
NM_001113378.2(FANCI):c.1909C>T (p.Pro637Ser)
|
|
|
|
NM_001113378.2(FANCI):c.191_199del (p.Arg64_Arg66del)
|
rs2151252928
|
|
|
NM_001113378.2(FANCI):c.1925T>C (p.Leu642Pro)
|
rs2151709613
|
|
|
NM_001113378.2(FANCI):c.1931C>T (p.Pro644Leu)
|
|
|
|
NM_001113378.2(FANCI):c.1944A>G (p.Glu648=)
|
|
|
|
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val)
|
rs746651145
|
|
|
NM_001113378.2(FANCI):c.1954C>T (p.Leu652=)
|
rs1433980751
|
|
|
NM_001113378.2(FANCI):c.1955T>G (p.Leu652Arg)
|
rs2151709881
|
|
|
NM_001113378.2(FANCI):c.1962A>C (p.Gln654His)
|
|
|
|
NM_001113378.2(FANCI):c.1962A>G (p.Gln654=)
|
rs2151709946
|
|
|
NM_001113378.2(FANCI):c.1968T>C (p.Asp656=)
|
|
|
|
NM_001113378.2(FANCI):c.1972A>C (p.Ile658Leu)
|
rs745308624
|
|
|
NM_001113378.2(FANCI):c.1978C>T (p.Leu660=)
|
|
|
|
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
|
|
|
|
NM_001113378.2(FANCI):c.1980A>G (p.Leu660=)
|
|
|
|
NM_001113378.2(FANCI):c.1983A>G (p.Gln661=)
|
|
|
|
NM_001113378.2(FANCI):c.1986A>G (p.Glu662=)
|
rs769047323
|
|
|
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
|
|
|
|
NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser)
|
|
|
|
NM_001113378.2(FANCI):c.1989A>C (p.Pro663=)
|
|
|
|
NM_001113378.2(FANCI):c.1989A>G (p.Pro663=)
|
|
|
|
NM_001113378.2(FANCI):c.198T>C (p.Arg66=)
|
|
|
|
NM_001113378.2(FANCI):c.1992+12A>G
|
|
|
|
NM_001113378.2(FANCI):c.1992+15C>T
|
rs931290756
|
|
|
NM_001113378.2(FANCI):c.1992+3G>C
|
|
|
|
NM_001113378.2(FANCI):c.1993-10del
|
|
|
|
NM_001113378.2(FANCI):c.1993-15T>C
|
|
|
|
NM_001113378.2(FANCI):c.1993-17C>G
|
|
|
|
NM_001113378.2(FANCI):c.1993-19_1993-15del
|
rs2151723581
|
|
|
NM_001113378.2(FANCI):c.1993-7C>T
|
|
|
|
NM_001113378.2(FANCI):c.1998T>C (p.Tyr666=)
|
|
|
|
NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu)
|
rs748834576
|
|
|
NM_001113378.2(FANCI):c.2004G>A (p.Leu668=)
|
|
|
|
NM_001113378.2(FANCI):c.2004G>T (p.Leu668=)
|
|
|
|
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2018A>G (p.His673Arg)
|
rs2151724076
|
|
|
NM_001113378.2(FANCI):c.2019T>C (p.His673=)
|
|
|
|
NM_001113378.2(FANCI):c.2029del (p.Trp677fs)
|
rs2151724213
|
|
|
NM_001113378.2(FANCI):c.202A>G (p.Ile68Val)
|
|
|
|
NM_001113378.2(FANCI):c.2048T>C (p.Ile683Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2052C>G (p.Pro684=)
|
|
|
|
NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)
|
|
|
|
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2063G>T (p.Gly688Val)
|
rs778157971
|
|
|
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del)
|
rs878854176
|
|
|
NM_001113378.2(FANCI):c.2074G>A (p.Glu692Lys)
|
|
|
|
NM_001113378.2(FANCI):c.2076G>A (p.Glu692=)
|
|
|
|
NM_001113378.2(FANCI):c.2078A>G (p.Glu693Gly)
|
|
|
|
NM_001113378.2(FANCI):c.207C>T (p.Tyr69=)
|
|
|
|
NM_001113378.2(FANCI):c.2083G>A (p.Glu695Lys)
|
|
|
|
NM_001113378.2(FANCI):c.2084A>C (p.Glu695Ala)
|
|
|
|
NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala)
|
|
|
|
NM_001113378.2(FANCI):c.2091A>G (p.Ala697=)
|
rs1262206533
|
|
|
NM_001113378.2(FANCI):c.2095T>A (p.Tyr699Asn)
|
rs769972292
|
|
|
NM_001113378.2(FANCI):c.2096A>G (p.Tyr699Cys)
|
rs774148630
|
|
|
NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=)
|
rs376376537
|
|
|
NM_001113378.2(FANCI):c.2106A>G (p.Leu702=)
|
rs2151725234
|
|
|
NM_001113378.2(FANCI):c.2111A>T (p.Asp704Val)
|
|
|
|
NM_001113378.2(FANCI):c.2116T>C (p.Leu706=)
|
|
|
|
NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)
|
|
|
|
NM_001113378.2(FANCI):c.2121G>A (p.Glu707=)
|
rs2151725442
|
|
|
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=)
|
rs2054118261
|
|
|
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2163T>C (p.Phe721=)
|
rs1263993972
|
|
|
NM_001113378.2(FANCI):c.2167C>T (p.Leu723=)
|
rs878854177
|
|
|
NM_001113378.2(FANCI):c.2169+15C>T
|
|
|
|
NM_001113378.2(FANCI):c.2169+18A>G
|
|
|
|
NM_001113378.2(FANCI):c.2169+1G>A
|
|
|
|
NM_001113378.2(FANCI):c.2169+2T>C
|
|
|
|
NM_001113378.2(FANCI):c.2169+9T>C
|
rs1205906508
|
|
|
NM_001113378.2(FANCI):c.2169+9T>G
|
|
|
|
NM_001113378.2(FANCI):c.2170-3dup
|
|
|
|
NM_001113378.2(FANCI):c.2170-4T>C
|
rs1167442446
|
|
|
NM_001113378.2(FANCI):c.2170-7C>A
|
rs759281018
|
|
|
NM_001113378.2(FANCI):c.2170-9_2170-8del
|
|
|
|
NM_001113378.2(FANCI):c.2175A>G (p.Lys725=)
|
|
|
|
NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro)
|
rs1596304843
|
|
|
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2196C>T (p.Ser732=)
|
|
|
|
NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala)
|
rs2054122961
|
|
|
NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser)
|
|
|
|
NM_001113378.2(FANCI):c.219C>T (p.Ile73=)
|
rs928688700
|
|
|
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu)
|
rs2052680747
|
|
|
NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr)
|
|
|
|
NM_001113378.2(FANCI):c.222G>A (p.Gln74=)
|
|
|
|
NM_001113378.2(FANCI):c.2231T>C (p.Phe744Ser)
|
rs1196776537
|
|
|
NM_001113378.2(FANCI):c.2233C>T (p.Leu745Phe)
|
|
|
|
NM_001113378.2(FANCI):c.2236G>A (p.Val746Met)
|
|
|
|
NM_001113378.2(FANCI):c.2255T>G (p.Val752Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2266T>G (p.Tyr756Asp)
|
rs752028405
|
|
|
NM_001113378.2(FANCI):c.226G>A (p.Val76Met)
|
rs2151253448
|
|
|
NM_001113378.2(FANCI):c.2270A>G (p.Asn757Ser)
|
rs111883566
|
|
|
NM_001113378.2(FANCI):c.2273T>G (p.Phe758Cys)
|
rs750735931
|
|
|
NM_001113378.2(FANCI):c.2274C>T (p.Phe758=)
|
|
|
|
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val)
|
rs780410177
|
|
|
NM_001113378.2(FANCI):c.2280A>G (p.Ile760Met)
|
|
|
|
NM_001113378.2(FANCI):c.2288T>A (p.Phe763Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.2290A>C (p.Ser764Arg)
|
|
|
|
NM_001113378.2(FANCI):c.2291+10T>C
|
|
|
|
NM_001113378.2(FANCI):c.2291+15T>C
|
rs2151728206
|
|
|
NM_001113378.2(FANCI):c.2291+1G>A
|
|
|
|
NM_001113378.2(FANCI):c.2291+20C>A
|
|
|
|
NM_001113378.2(FANCI):c.2291+2T>A
|
rs1400441798
|
|
|
NM_001113378.2(FANCI):c.2291+5G>A
|
rs1315760080
|
|
|
NM_001113378.2(FANCI):c.2292-12T>C
|
|
|
|
NM_001113378.2(FANCI):c.2292-12dup
|
|
|
|
NM_001113378.2(FANCI):c.2292-17T>C
|
rs775115671
|
|
|
NM_001113378.2(FANCI):c.2292-18C>A
|
rs901102009
|
|
|
NM_001113378.2(FANCI):c.2292-1G>T
|
|
|
|
NM_001113378.2(FANCI):c.2292-20C>G
|
|
|
|
NM_001113378.2(FANCI):c.2292-3C>T
|
|
|
|
NM_001113378.2(FANCI):c.2292-5dup
|
rs1567165544
|
|
|
NM_001113378.2(FANCI):c.2292-8_2292-7insAT
|
|
|
|
NM_001113378.2(FANCI):c.2298T>C (p.Asn766=)
|
|
|
|
NM_001113378.2(FANCI):c.2299A>G (p.Arg767Gly)
|
|
|
|
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val)
|
rs772954096
|
|
|
NM_001113378.2(FANCI):c.2300G>T (p.Arg767Met)
|
rs1555447886
|
|
|
NM_001113378.2(FANCI):c.2302T>G (p.Phe768Val)
|
|
|
|
NM_001113378.2(FANCI):c.2303T>A (p.Phe768Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.2306A>C (p.Glu769Ala)
|
|
|
|
NM_001113378.2(FANCI):c.2307G>A (p.Glu769=)
|
|
|
|
NM_001113378.2(FANCI):c.2307G>C (p.Glu769Asp)
|
|
|
|
NM_001113378.2(FANCI):c.2310C>T (p.Asp770=)
|
rs1169269440
|
|
|
NM_001113378.2(FANCI):c.2314C>T (p.Leu772=)
|
|
|
|
NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn)
|
rs1192891263
|
|
|
NM_001113378.2(FANCI):c.2319C>T (p.Ser773=)
|
|
|
|
NM_001113378.2(FANCI):c.231A>G (p.Glu77=)
|
|
|
|
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
|
|
|
|
NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg)
|
|
|
|
NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs)
|
rs1567165630
|
|
|
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
|
|
|
|
NM_001113378.2(FANCI):c.2340dup (p.Leu781fs)
|
|
|
|
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
|
|
|
|
NM_001113378.2(FANCI):c.2343C>G (p.Leu781=)
|
rs1377037041
|
|
|
NM_001113378.2(FANCI):c.2343C>T (p.Leu781=)
|
|
|
|
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
|
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs)
|
rs2151740576
|
|
|
NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly)
|
rs1363536852
|
|
|
NM_001113378.2(FANCI):c.234G>A (p.Ser78=)
|
|
|
|
NM_001113378.2(FANCI):c.2352T>A (p.Ile784=)
|
|
|
|
NM_001113378.2(FANCI):c.2364A>G (p.Lys788=)
|
|
|
|
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val)
|
rs925359228
|
|
|
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu)
|
rs1415605220
|
|
|
NM_001113378.2(FANCI):c.2370T>A (p.Gly790=)
|
rs2151740808
|
|
|
NM_001113378.2(FANCI):c.237G>A (p.Gly79=)
|
|
|
|
NM_001113378.2(FANCI):c.2382T>G (p.Thr794=)
|
rs2151740871
|
|
|
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
|
|
|
|
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val)
|
rs761136936
|
|
|
NM_001113378.2(FANCI):c.2394C>A (p.Asn798Lys)
|
|
|
|
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala)
|
rs1163712614
|
|
|
NM_001113378.2(FANCI):c.2400A>G (p.Thr800=)
|
|
|
|
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
|
|
|
|
NM_001113378.2(FANCI):c.241T>C (p.Leu81=)
|
|
|
|
NM_001113378.2(FANCI):c.2424A>G (p.Lys808=)
|
|
|
|
NM_001113378.2(FANCI):c.2428G>T (p.Val810Leu)
|
rs779973664
|
|
|
NM_001113378.2(FANCI):c.2440C>G (p.Leu814Val)
|
rs2151741592
|
|
|
NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly)
|
rs370996106
|
|
|
NM_001113378.2(FANCI):c.2456+10T>C
|
rs2151741937
|
|
|
NM_001113378.2(FANCI):c.2456+12C>G
|
|
|
|
NM_001113378.2(FANCI):c.2456+16A>G
|
|
|
|
NM_001113378.2(FANCI):c.2456+17G>C
|
|
|
|
NM_001113378.2(FANCI):c.2456+19G>A
|
|
|
|
NM_001113378.2(FANCI):c.2456+1G>A
|
|
|
|
NM_001113378.2(FANCI):c.2457-10C>G
|
|
|
|
NM_001113378.2(FANCI):c.2457-11TC[3]
|
|
|
|
NM_001113378.2(FANCI):c.2457-12G>A
|
|
|
|
NM_001113378.2(FANCI):c.2457-12G>C
|
|
|
|
NM_001113378.2(FANCI):c.2457-12_2457-3del
|
|
|
|
NM_001113378.2(FANCI):c.2457-16C>G
|
|
|
|
NM_001113378.2(FANCI):c.2457-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.2457-18C>T
|
|
|
|
NM_001113378.2(FANCI):c.2457-20C>G
|
|
|
|
NM_001113378.2(FANCI):c.2457-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.2457-23TC[3]
|
rs751389631
|
|
|
NM_001113378.2(FANCI):c.2457-2A>G
|
rs2054196709
|
|
|
NM_001113378.2(FANCI):c.2457-4C>A
|
|
|
|
NM_001113378.2(FANCI):c.2457-4C>T
|
|
|
|
NM_001113378.2(FANCI):c.2457-7T>C
|
|
|
|
NM_001113378.2(FANCI):c.2457-8C>G
|
rs2151754256
|
|
|
NM_001113378.2(FANCI):c.2457-8C>T
|
rs2151754256
|
|
|
NM_001113378.2(FANCI):c.2458G>A (p.Asp820Asn)
|
rs2151754385
|
|
|
NM_001113378.2(FANCI):c.2458G>T (p.Asp820Tyr)
|
rs2151754385
|
|
|
NM_001113378.2(FANCI):c.2459A>G (p.Asp820Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2473C>T (p.His825Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
|
|
|
|
NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu)
|
rs2151253685
|
|
|
NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg)
|
|
|
|
NM_001113378.2(FANCI):c.2484C>T (p.Ser828=)
|
rs750041727
|
|
|
NM_001113378.2(FANCI):c.2496C>T (p.Leu832=)
|
|
|
|
NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly)
|
|
|
|
NM_001113378.2(FANCI):c.24A>G (p.Leu8=)
|
|
|
|
NM_001113378.2(FANCI):c.2511G>C (p.Glu837Asp)
|
rs2151754914
|
|
|
NM_001113378.2(FANCI):c.2518C>T (p.Arg840Cys)
|
|
|
|
NM_001113378.2(FANCI):c.2519G>T (p.Arg840Leu)
|
rs777483611
|
|
|
NM_001113378.2(FANCI):c.2520C>A (p.Arg840=)
|
|
|
|
NM_001113378.2(FANCI):c.2520C>T (p.Arg840=)
|
|
|
|
NM_001113378.2(FANCI):c.2532T>C (p.Asn844=)
|
|
|
|
NM_001113378.2(FANCI):c.2533G>A (p.Val845Ile)
|
rs1596307741
|
|
|
NM_001113378.2(FANCI):c.2544G>A (p.Gln848=)
|
|
|
|
NM_001113378.2(FANCI):c.2550A>G (p.Val850=)
|
|
|
|
NM_001113378.2(FANCI):c.2553G>A (p.Gln851=)
|
|
|
|
NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro)
|
rs541976745
|
|
|
NM_001113378.2(FANCI):c.2568A>G (p.Thr856=)
|
|
|
|
NM_001113378.2(FANCI):c.2571G>A (p.Gly857=)
|
rs2151755630
|
|
|
NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly)
|
|
|
|
NM_001113378.2(FANCI):c.2583C>A (p.Gly861=)
|
|
|
|
NM_001113378.2(FANCI):c.2586T>C (p.Pro862=)
|
|
|
|
NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly)
|
rs2054201315
|
|
|
NM_001113378.2(FANCI):c.258G>A (p.Ala86=)
|
rs750230813
|
|
|
NM_001113378.2(FANCI):c.258G>T (p.Ala86=)
|
|
|
|
NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val)
|
|
|
|
NM_001113378.2(FANCI):c.2592C>A (p.Gly864=)
|
|
|
|
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn)
|
|
|
|
NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu)
|
|
|
|
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2616G>A (p.Gln872=)
|
|
|
|
NM_001113378.2(FANCI):c.2619C>T (p.Asn873=)
|
|
|
|
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2636+10T>A
|
|
|
|
NM_001113378.2(FANCI):c.2636+11C>G
|
rs1596307878
|
|
|
NM_001113378.2(FANCI):c.2636+12C>G
|
|
|
|
NM_001113378.2(FANCI):c.2636+18C>A
|
|
|
|
NM_001113378.2(FANCI):c.2636+18C>T
|
|
|
|
NM_001113378.2(FANCI):c.2636+7C>A
|
rs1264792365
|
|
|
NM_001113378.2(FANCI):c.2636+7C>T
|
|
|
|
NM_001113378.2(FANCI):c.2636+8A>G
|
|
|
|
NM_001113378.2(FANCI):c.2636+9C>A
|
|
|
|
NM_001113378.2(FANCI):c.2636+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.2637-12C>A
|
|
|
|
NM_001113378.2(FANCI):c.2637-12C>G
|
|
|
|
NM_001113378.2(FANCI):c.2637-15T>C
|
rs2151838036
|
|
|
NM_001113378.2(FANCI):c.2637-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.2637-18C>T
|
|
|
|
NM_001113378.2(FANCI):c.2637-19C>T
|
|
|
|
NM_001113378.2(FANCI):c.2637-1G>C
|
|
|
|
NM_001113378.2(FANCI):c.2637-5T>C
|
|
|
|
NM_001113378.2(FANCI):c.2640C>A (p.Val880=)
|
|
|
|
NM_001113378.2(FANCI):c.2644C>T (p.Leu882=)
|
|
|
|
NM_001113378.2(FANCI):c.2646A>C (p.Leu882=)
|
|
|
|
NM_001113378.2(FANCI):c.264G>A (p.Glu88=)
|
|
|
|
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser)
|
rs749604758
|
|
|
NM_001113378.2(FANCI):c.2658T>C (p.Thr886=)
|
|
|
|
NM_001113378.2(FANCI):c.2658T>G (p.Thr886=)
|
|
|
|
NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu)
|
|
|
|
NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser)
|
|
|
|
NM_001113378.2(FANCI):c.2670T>C (p.Thr890=)
|
|
|
|
NM_001113378.2(FANCI):c.2671T>G (p.Ser891Ala)
|
rs2054461834
|
|
|
NM_001113378.2(FANCI):c.2674G>T (p.Val892Leu)
|
rs760751687
|
|
|
NM_001113378.2(FANCI):c.2677G>A (p.Glu893Lys)
|
|
|
|
NM_001113378.2(FANCI):c.2678A>C (p.Glu893Ala)
|
|
|
|
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
|
|
|
|
NM_001113378.2(FANCI):c.2683T>G (p.Ser895Ala)
|
rs1567170319
|
|
|
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr)
|
rs530089482
|
|
|
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs)
|
rs745893292
|
|
|
NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp)
|
|
|
|
NM_001113378.2(FANCI):c.2703A>G (p.Gly901=)
|
|
|
|
NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile)
|
rs1421890045
|
|
|
NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn)
|
|
|
|
NM_001113378.2(FANCI):c.2724C>T (p.Cys908=)
|
|
|
|
NM_001113378.2(FANCI):c.2727G>A (p.Leu909=)
|
|
|
|
NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln)
|
rs1261021714
|
|
|
NM_001113378.2(FANCI):c.2733T>C (p.Gly911=)
|
|
|
|
NM_001113378.2(FANCI):c.2736A>G (p.Leu912=)
|
rs768880495
|
|
|
NM_001113378.2(FANCI):c.2738A>C (p.Gln913Pro)
|
|
|
|
NM_001113378.2(FANCI):c.2745_2747del (p.Phe916del)
|
|
|
|
NM_001113378.2(FANCI):c.2746T>C (p.Phe916Leu)
|
|
|
|
NM_001113378.2(FANCI):c.2747T>G (p.Phe916Cys)
|
|
|
|
NM_001113378.2(FANCI):c.2750G>A (p.Ser917Asn)
|
rs2151839260
|
|
|
NM_001113378.2(FANCI):c.2752G>A (p.Ala918Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2766C>G (p.Phe922Leu)
|
rs2054464932
|
|
|
NM_001113378.2(FANCI):c.2776A>C (p.Lys926Gln)
|
rs1596316742
|
|
|
NM_001113378.2(FANCI):c.2777A>C (p.Lys926Thr)
|
rs1386770100
|
|
|
NM_001113378.2(FANCI):c.2781T>A (p.Ile927=)
|
rs771106622
|
|
|
NM_001113378.2(FANCI):c.2782C>G (p.Gln928Glu)
|
|
|
|
NM_001113378.2(FANCI):c.2789T>G (p.Phe930Cys)
|
|
|
|
NM_001113378.2(FANCI):c.2790T>A (p.Phe930Leu)
|
|
|
|
NM_001113378.2(FANCI):c.2793C>T (p.Leu931=)
|
|
|
|
NM_001113378.2(FANCI):c.2797G>A (p.Ala933Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2803+11C>G
|
|
|
|
NM_001113378.2(FANCI):c.2803+13G>A
|
|
|
|
NM_001113378.2(FANCI):c.2803+16T>A
|
|
|
|
NM_001113378.2(FANCI):c.2803+18A>T
|
|
|
|
NM_001113378.2(FANCI):c.2803+19A>G
|
|
|
|
NM_001113378.2(FANCI):c.2803+6C>T
|
|
|
|
NM_001113378.2(FANCI):c.2803+8T>C
|
|
|
|
NM_001113378.2(FANCI):c.2804-19G>A
|
|
|
|
NM_001113378.2(FANCI):c.2804-1G>C
|
rs2054480330
|
|
|
NM_001113378.2(FANCI):c.2804-2A>T
|
|
|
|
NM_001113378.2(FANCI):c.2804-4C>A
|
|
|
|
NM_001113378.2(FANCI):c.2804-5C>G
|
|
|
|
NM_001113378.2(FANCI):c.2804-9C>T
|
|
|
|
NM_001113378.2(FANCI):c.280A>G (p.Met94Val)
|
|
|
|
NM_001113378.2(FANCI):c.2810C>G (p.Thr937Arg)
|
rs2151844601
|
|
|
NM_001113378.2(FANCI):c.2822_2824del (p.Gly941del)
|
|
|
|
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
|
|
|
|
NM_001113378.2(FANCI):c.2832A>G (p.Arg944=)
|
rs79685648
|
|
|
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
|
|
|
|
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
|
|
|
|
NM_001113378.2(FANCI):c.283C>T (p.Leu95=)
|
|
|
|
NM_001113378.2(FANCI):c.2840C>T (p.Ala947Val)
|
|
|
|
NM_001113378.2(FANCI):c.2842G>C (p.Asp948His)
|
|
|
|
NM_001113378.2(FANCI):c.2843A>G (p.Asp948Gly)
|
rs2054481871
|
|
|
NM_001113378.2(FANCI):c.2847C>T (p.Val949=)
|
|
|
|
NM_001113378.2(FANCI):c.2849G>C (p.Ser950Thr)
|
rs760327010
|
|
|
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile)
|
rs760327010
|
|
|
NM_001113378.2(FANCI):c.2850T>C (p.Ser950=)
|
|
|
|
NM_001113378.2(FANCI):c.2854A>G (p.Thr952Ala)
|
|
|
|
NM_001113378.2(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal)
|
rs1555448946
|
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
|
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
|
|
|
|
NM_001113378.2(FANCI):c.2866G>A (p.Ala956Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2868A>G (p.Ala956=)
|
rs2151845184
|
|
|
NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)
|
|
|
|
NM_001113378.2(FANCI):c.2874G>C (p.Gln958His)
|
|
|
|
NM_001113378.2(FANCI):c.2877C>A (p.Ile959=)
|
|
|
|
NM_001113378.2(FANCI):c.288+10C>G
|
|
|
|
NM_001113378.2(FANCI):c.288+13del
|
rs748948721
|
|
|
NM_001113378.2(FANCI):c.288+18_288+19delinsTC
|
rs2151254662
|
|
|
NM_001113378.2(FANCI):c.288+19A>T
|
|
|
|
NM_001113378.2(FANCI):c.288+19del
|
|
|
|
NM_001113378.2(FANCI):c.2889+13G>T
|
|
|
|
NM_001113378.2(FANCI):c.2889+16A>G
|
|
|
|
NM_001113378.2(FANCI):c.2889+20T>A
|
rs2151845568
|
|
|
NM_001113378.2(FANCI):c.2889+2T>C
|
|
|
|
NM_001113378.2(FANCI):c.289-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.289-15C>G
|
|
|
|
NM_001113378.2(FANCI):c.289-15C>T
|
|
|
|
NM_001113378.2(FANCI):c.289-17A>G
|
rs2052714114
|
|
|
NM_001113378.2(FANCI):c.289-18T>C
|
|
|
|
NM_001113378.2(FANCI):c.2890-15G>A
|
|
|
|
NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys)
|
rs2151859007
|
|
|
NM_001113378.2(FANCI):c.2892G>A (p.Arg964=)
|
rs780232353
|
|
|
NM_001113378.2(FANCI):c.2896T>C (p.Leu966=)
|
rs1042620375
|
|
|
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
|
|
|
|
NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg)
|
rs376798440
|
|
|
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
|
|
|
|
NM_001113378.2(FANCI):c.2936G>A (p.Ser979Asn)
|
rs769453869
|
|
|
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr)
|
rs769453869
|
|
|
NM_001113378.2(FANCI):c.2937C>T (p.Ser979=)
|
|
|
|
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
|
|
|
|
NM_001113378.2(FANCI):c.2949C>A (p.Leu983=)
|
rs2151859425
|
|
|
NM_001113378.2(FANCI):c.294C>T (p.His98=)
|
|
|
|
NM_001113378.2(FANCI):c.2953C>G (p.Leu985Val)
|
|
|
|
NM_001113378.2(FANCI):c.2958C>T (p.Val986=)
|
|
|
|
NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)
|
|
|
|
NM_001113378.2(FANCI):c.2961G>A (p.Thr987=)
|
|
|
|
NM_001113378.2(FANCI):c.2961G>C (p.Thr987=)
|
|
|
|
NM_001113378.2(FANCI):c.2961G>T (p.Thr987=)
|
|
|
|
NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile)
|
rs762231803
|
|
|
NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr)
|
|
|
|
NM_001113378.2(FANCI):c.2985A>G (p.Leu995=)
|
|
|
|
NM_001113378.2(FANCI):c.2990A>T (p.Glu997Val)
|
rs1567171375
|
|
|
NM_001113378.2(FANCI):c.2998T>A (p.Ser1000Thr)
|
rs2151859745
|
|
|
NM_001113378.2(FANCI):c.2T>G (p.Met1Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs)
|
rs1596318782
|
|
|
NM_001113378.2(FANCI):c.3006+12G>A
|
|
|
|
NM_001113378.2(FANCI):c.3006+13C>A
|
|
|
|
NM_001113378.2(FANCI):c.3006+13C>T
|
rs1412674861
|
|
|
NM_001113378.2(FANCI):c.3006+1G>A
|
|
|
|
NM_001113378.2(FANCI):c.3006+20A>C
|
rs1173017190
|
|
|
NM_001113378.2(FANCI):c.3006+4C>G
|
|
|
|
NM_001113378.2(FANCI):c.3006+7G>A
|
|
|
|
NM_001113378.2(FANCI):c.3007-18G>A
|
|
|
|
NM_001113378.2(FANCI):c.3007-1G>A
|
|
|
|
NM_001113378.2(FANCI):c.3007-1G>C
|
|
|
|
NM_001113378.2(FANCI):c.3007-3T>A
|
|
|
|
NM_001113378.2(FANCI):c.3007-9C>G
|
|
|
|
NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser)
|
rs770185523
|
|
|
NM_001113378.2(FANCI):c.3024C>T (p.Ser1008=)
|
|
|
|
NM_001113378.2(FANCI):c.3030A>G (p.Thr1010=)
|
|
|
|
NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu)
|
|
|
|
NM_001113378.2(FANCI):c.3036G>A (p.Lys1012=)
|
|
|
|
NM_001113378.2(FANCI):c.3036G>T (p.Lys1012Asn)
|
|
|
|
NM_001113378.2(FANCI):c.3054C>G (p.Ser1018Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3056G>C (p.Arg1019Pro)
|
rs772401747
|
|
|
NM_001113378.2(FANCI):c.3058+10C>T
|
rs1375877085
|
|
|
NM_001113378.2(FANCI):c.3058+15A>G
|
|
|
|
NM_001113378.2(FANCI):c.3058+1G>C
|
|
|
|
NM_001113378.2(FANCI):c.3058+4A>G
|
rs2054616468
|
|
|
NM_001113378.2(FANCI):c.3058+8T>C
|
|
|
|
NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys)
|
|
|
|
NM_001113378.2(FANCI):c.3059-11C>T
|
rs2054667046
|
|
|
NM_001113378.2(FANCI):c.3059-14C>A
|
|
|
|
NM_001113378.2(FANCI):c.3059-18T>C
|
|
|
|
NM_001113378.2(FANCI):c.3059-4C>G
|
rs747570773
|
|
|
NM_001113378.2(FANCI):c.3059-4C>T
|
rs747570773
|
|
|
NM_001113378.2(FANCI):c.3059-4dup
|
rs1317953100
|
|
|
NM_001113378.2(FANCI):c.3061G>A (p.Asp1021Asn)
|
rs2054667740
|
|
|
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr)
|
rs2054667740
|
|
|
NM_001113378.2(FANCI):c.3062A>G (p.Asp1021Gly)
|
rs1290229004
|
|
|
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser)
|
rs1359308008
|
|
|
NM_001113378.2(FANCI):c.3066C>T (p.Ala1022=)
|
|
|
|
NM_001113378.2(FANCI):c.3075C>T (p.Cys1025=)
|
|
|
|
NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=)
|
rs2151913000
|
|
|
NM_001113378.2(FANCI):c.3096C>T (p.Leu1032=)
|
rs2151913106
|
|
|
NM_001113378.2(FANCI):c.309A>G (p.Pro103=)
|
|
|
|
NM_001113378.2(FANCI):c.3105G>A (p.Leu1035=)
|
|
|
|
NM_001113378.2(FANCI):c.3105G>C (p.Leu1035=)
|
|
|
|
NM_001113378.2(FANCI):c.3113C>T (p.Ser1038Leu)
|
rs2151913209
|
|
|
NM_001113378.2(FANCI):c.3114G>T (p.Ser1038=)
|
rs567952571
|
|
|
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
|
|
|
|
NM_001113378.2(FANCI):c.3117T>C (p.Tyr1039=)
|
rs2151913256
|
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
|
NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3129C>T (p.Val1043=)
|
|
|
|
NM_001113378.2(FANCI):c.312A>G (p.Leu104=)
|
|
|
|
NM_001113378.2(FANCI):c.3136C>T (p.Leu1046=)
|
|
|
|
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3147G>A (p.Leu1049=)
|
|
|
|
NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe)
|
|
|
|
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
|
|
|
|
NM_001113378.2(FANCI):c.3150C>T (p.Ser1050=)
|
|
|
|
NM_001113378.2(FANCI):c.3157A>G (p.Ile1053Val)
|
rs1486397190
|
|
|
NM_001113378.2(FANCI):c.3161A>G (p.His1054Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3163G>A (p.Gly1055Arg)
|
|
|
|
NM_001113378.2(FANCI):c.3165G>A (p.Gly1055=)
|
rs1596324375
|
|
|
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn)
|
rs2054670897
|
|
|
NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln)
|
|
|
|
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=)
|
rs564447394
|
|
|
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg)
|
rs2054671049
|
|
|
NM_001113378.2(FANCI):c.3179T>C (p.Ile1060Thr)
|
rs201376236
|
|
|
NM_001113378.2(FANCI):c.3183C>T (p.Asp1061=)
|
|
|
|
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3186+10T>C
|
|
|
|
NM_001113378.2(FANCI):c.3186+14C>T
|
|
|
|
NM_001113378.2(FANCI):c.3186+6A>G
|
rs910020158
|
|
|
NM_001113378.2(FANCI):c.3187-11C>G
|
|
|
|
NM_001113378.2(FANCI):c.3187-12T>C
|
|
|
|
NM_001113378.2(FANCI):c.3187-13T>G
|
|
|
|
NM_001113378.2(FANCI):c.3187-14C>A
|
|
|
|
NM_001113378.2(FANCI):c.3187-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.3187-18C>G
|
|
|
|
NM_001113378.2(FANCI):c.3187-2A>G
|
|
|
|
NM_001113378.2(FANCI):c.3187-3C>G
|
rs2054676661
|
|
|
NM_001113378.2(FANCI):c.3187-7del
|
|
|
|
NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)
|
|
|
|
NM_001113378.2(FANCI):c.3195G>A (p.Glu1065=)
|
|
|
|
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
|
|
|
|
NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly)
|
rs2052715611
|
|
|
NM_001113378.2(FANCI):c.3219A>G (p.Ala1073=)
|
|
|
|
NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu)
|
rs1450182027
|
|
|
NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del)
|
|
|
|
NM_001113378.2(FANCI):c.3231G>A (p.Leu1077=)
|
|
|
|
NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=)
|
rs1596324690
|
|
|
NM_001113378.2(FANCI):c.3237G>T (p.Thr1079=)
|
|
|
|
NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val)
|
|
|
|
NM_001113378.2(FANCI):c.3246C>T (p.Pro1082=)
|
|
|
|
NM_001113378.2(FANCI):c.324A>G (p.Leu108=)
|
rs1427386763
|
|
|
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe)
|
rs533779983
|
|
|
NM_001113378.2(FANCI):c.3255+10G>A
|
|
|
|
NM_001113378.2(FANCI):c.3255+16G>A
|
rs2151915712
|
|
|
NM_001113378.2(FANCI):c.3255+1G>C
|
rs779079622
|
|
|
NM_001113378.2(FANCI):c.3256-17G>C
|
|
|
|
NM_001113378.2(FANCI):c.3256-19A>G
|
|
|
|
NM_001113378.2(FANCI):c.3256-8_3256-4del
|
|
|
|
NM_001113378.2(FANCI):c.3256-9_3256-8del
|
rs752376850
|
|
|
NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile)
|
rs2151267729
|
|
|
NM_001113378.2(FANCI):c.3264T>A (p.Val1088=)
|
|
|
|
NM_001113378.2(FANCI):c.3265C>T (p.Leu1089=)
|
|
|
|
NM_001113378.2(FANCI):c.3276C>T (p.Ala1092=)
|
|
|
|
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
|
rs758575911
|
|
|
NM_001113378.2(FANCI):c.327C>T (p.Ala109=)
|
|
|
|
NM_001113378.2(FANCI):c.3282G>A (p.Lys1094=)
|
|
|
|
NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile)
|
rs1596325131
|
|
|
NM_001113378.2(FANCI):c.3285T>C (p.Val1095=)
|
rs1567174233
|
|
|
NM_001113378.2(FANCI):c.3286C>T (p.Leu1096=)
|
|
|
|
NM_001113378.2(FANCI):c.3288A>T (p.Leu1096=)
|
|
|
|
NM_001113378.2(FANCI):c.3291A>G (p.Glu1097=)
|
rs2054690236
|
|
|
NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)
|
|
|
|
NM_001113378.2(FANCI):c.3306A>T (p.Leu1102=)
|
|
|
|
NM_001113378.2(FANCI):c.3309C>T (p.Ile1103=)
|
|
|
|
NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro)
|
rs768735814
|
|
|
NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser)
|
|
|
|
NM_001113378.2(FANCI):c.3312C>T (p.Thr1104=)
|
|
|
|
NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile)
|
|
|
|
NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln)
|
rs2151267825
|
|
|
NM_001113378.2(FANCI):c.3324A>G (p.Gly1108=)
|
|
|
|
NM_001113378.2(FANCI):c.3333C>T (p.Ser1111=)
|
|
|
|
NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser)
|
rs2151919026
|
|
|
NM_001113378.2(FANCI):c.3349+10G>A
|
rs1337260318
|
|
|
NM_001113378.2(FANCI):c.3349+17del
|
|
|
|
NM_001113378.2(FANCI):c.3350-8C>T
|
rs1398425984
|
|
|
NM_001113378.2(FANCI):c.3354G>C (p.Glu1118Asp)
|
|
|
|
NM_001113378.2(FANCI):c.3354G>T (p.Glu1118Asp)
|
rs760199293
|
|
|
NM_001113378.2(FANCI):c.3355G>A (p.Ala1119Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3357C>G (p.Ala1119=)
|
|
|
|
NM_001113378.2(FANCI):c.3358T>A (p.Ser1120Thr)
|
|
|
|
NM_001113378.2(FANCI):c.336T>C (p.Phe112=)
|
|
|
|
NM_001113378.2(FANCI):c.3370A>C (p.Thr1124Pro)
|
|
|
|
NM_001113378.2(FANCI):c.3370A>G (p.Thr1124Ala)
|
rs2151923443
|
|
|
NM_001113378.2(FANCI):c.3371C>G (p.Thr1124Ser)
|
|
|
|
NM_001113378.2(FANCI):c.337A>C (p.Ile113Leu)
|
rs766158703
|
|
|
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu)
|
rs2054705069
|
|
|
NM_001113378.2(FANCI):c.3384G>A (p.Gln1128=)
|
rs988319051
|
|
|
NM_001113378.2(FANCI):c.3389T>A (p.Val1130Asp)
|
rs764412863
|
|
|
NM_001113378.2(FANCI):c.3391G>C (p.Glu1131Gln)
|
|
|
|
NM_001113378.2(FANCI):c.3392A>G (p.Glu1131Gly)
|
|
|
|
NM_001113378.2(FANCI):c.3396A>G (p.Lys1132=)
|
|
|
|
NM_001113378.2(FANCI):c.3399T>C (p.Ala1133=)
|
|
|
|
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3403A>T (p.Ile1135Phe)
|
|
|
|
NM_001113378.2(FANCI):c.3411A>G (p.Gln1137=)
|
rs781569040
|
|
|
NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His)
|
|
|
|
NM_001113378.2(FANCI):c.3423G>A (p.Leu1141=)
|
rs1596325708
|
|
|
NM_001113378.2(FANCI):c.3423G>C (p.Leu1141=)
|
|
|
|
NM_001113378.2(FANCI):c.3426T>C (p.Leu1142=)
|
rs748087226
|
|
|
NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg)
|
rs772071601
|
|
|
NM_001113378.2(FANCI):c.342T>C (p.Ser114=)
|
|
|
|
NM_001113378.2(FANCI):c.3438C>T (p.His1146=)
|
|
|
|
NM_001113378.2(FANCI):c.345T>C (p.Ala115=)
|
|
|
|
NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser)
|
|
|
|
NM_001113378.2(FANCI):c.3462A>G (p.Pro1154=)
|
|
|
|
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter)
|
rs2151924296
|
|
|
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
|
|
|
|
NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu)
|
rs2054708416
|
|
|
NM_001113378.2(FANCI):c.3486G>A (p.Leu1162=)
|
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
|
NM_001113378.2(FANCI):c.3495C>G (p.Asp1165Glu)
|
|
|
|
NM_001113378.2(FANCI):c.3498G>C (p.Leu1166Phe)
|
|
|
|
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3500G>T (p.Cys1167Phe)
|
rs1223721098
|
|
|
NM_001113378.2(FANCI):c.3506T>C (p.Met1169Thr)
|
rs2151924528
|
|
|
NM_001113378.2(FANCI):c.350G>C (p.Arg117Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3516A>G (p.Thr1172=)
|
|
|
|
NM_001113378.2(FANCI):c.3520A>G (p.Thr1174Ala)
|
|
|
|
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
|
|
|
|
NM_001113378.2(FANCI):c.3525C>T (p.Ala1175=)
|
rs114810692
|
|
|
NM_001113378.2(FANCI):c.3528T>C (p.Leu1176=)
|
|
|
|
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
|
|
|
|
NM_001113378.2(FANCI):c.3531C>A (p.Val1177=)
|
|
|
|
NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly)
|
|
|
|
NM_001113378.2(FANCI):c.3537+18G>A
|
|
|
|
NM_001113378.2(FANCI):c.3537+19C>G
|
rs2054711237
|
|
|
NM_001113378.2(FANCI):c.3537+19C>T
|
|
|
|
NM_001113378.2(FANCI):c.3537+3_3537+6del
|
rs780264785
|
|
|
NM_001113378.2(FANCI):c.3538-11T>G
|
|
|
|
NM_001113378.2(FANCI):c.3538-12T>C
|
|
|
|
NM_001113378.2(FANCI):c.3538-12T>G
|
|
|
|
NM_001113378.2(FANCI):c.3538-19A>G
|
|
|
|
NM_001113378.2(FANCI):c.3538-2A>T
|
rs1407605188
|
|
|
NM_001113378.2(FANCI):c.3538-6T>A
|
|
|
|
NM_001113378.2(FANCI):c.3538-6del
|
|
|
|
NM_001113378.2(FANCI):c.3538-6dup
|
|
|
|
NM_001113378.2(FANCI):c.3543C>G (p.Leu1181=)
|
|
|
|
NM_001113378.2(FANCI):c.3546G>A (p.Gln1182=)
|
rs1349708901
|
|
|
NM_001113378.2(FANCI):c.3549G>C (p.Val1183=)
|
|
|
|
NM_001113378.2(FANCI):c.3558C>T (p.Ser1186=)
|
|
|
|
NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr)
|
|
|
|
NM_001113378.2(FANCI):c.3561C>A (p.Ser1187=)
|
|
|
|
NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala)
|
|
|
|
NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val)
|
rs2151940603
|
|
|
NM_001113378.2(FANCI):c.3570T>A (p.Ile1190=)
|
|
|
|
NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile)
|
|
|
|
NM_001113378.2(FANCI):c.3591+13del
|
|
|
|
NM_001113378.2(FANCI):c.3591+15C>G
|
|
|
|
NM_001113378.2(FANCI):c.3591+16C>G
|
|
|
|
NM_001113378.2(FANCI):c.3591+16C>T
|
|
|
|
NM_001113378.2(FANCI):c.3591+4A>T
|
rs774180579
|
|
|
NM_001113378.2(FANCI):c.3591+8G>A
|
|
|
|
NM_001113378.2(FANCI):c.3592-12C>T
|
rs2054775391
|
|
|
NM_001113378.2(FANCI):c.3592-14C>T
|
|
|
|
NM_001113378.2(FANCI):c.3592-19C>T
|
|
|
|
NM_001113378.2(FANCI):c.3592-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.3592-6G>T
|
|
|
|
NM_001113378.2(FANCI):c.3592-7_3592-5del
|
|
|
|
NM_001113378.2(FANCI):c.3594G>C (p.Val1198=)
|
|
|
|
NM_001113378.2(FANCI):c.3600G>A (p.Leu1200=)
|
|
|
|
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)
|
rs747326740
|
|
|
NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu)
|
|
|
|
NM_001113378.2(FANCI):c.3615G>C (p.Leu1205=)
|
|
|
|
NM_001113378.2(FANCI):c.3621C>A (p.Pro1207=)
|
|
|
|
NM_001113378.2(FANCI):c.3621C>G (p.Pro1207=)
|
|
|
|
NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=)
|
rs1448880215
|
|
|
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs)
|
rs1567175626
|
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
|
NM_001113378.2(FANCI):c.3630T>C (p.Tyr1210=)
|
|
|
|
NM_001113378.2(FANCI):c.3636C>T (p.Phe1212=)
|
|
|
|
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val)
|
rs767466504
|
|
|
NM_001113378.2(FANCI):c.363A>G (p.Leu121=)
|
rs1596243244
|
|
|
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=)
|
rs760364969
|
|
|
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile)
|
rs978000003
|
|
|
NM_001113378.2(FANCI):c.3646G>T (p.Val1216Leu)
|
rs978000003
|
|
|
NM_001113378.2(FANCI):c.3651+12A>G
|
|
|
|
NM_001113378.2(FANCI):c.3651+14A>G
|
|
|
|
NM_001113378.2(FANCI):c.3651+18A>C
|
|
|
|
NM_001113378.2(FANCI):c.3651+3A>G
|
rs2151942001
|
|
|
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
|
rs766147964
|
|
|
NM_001113378.2(FANCI):c.3652-10A>G
|
rs202231175
|
|
|
NM_001113378.2(FANCI):c.3652-10A>T
|
rs202231175
|
|
|
NM_001113378.2(FANCI):c.3652-11T>C
|
|
|
|
NM_001113378.2(FANCI):c.3652-12C>A
|
|
|
|
NM_001113378.2(FANCI):c.3652-16G>A
|
|
|
|
NM_001113378.2(FANCI):c.3652-16G>C
|
rs537857278
|
|
|
NM_001113378.2(FANCI):c.3652-18del
|
rs763430013
|
|
|
NM_001113378.2(FANCI):c.3652-1G>T
|
|
|
|
NM_001113378.2(FANCI):c.3653A>G (p.Asn1218Ser)
|
rs1352752568
|
|
|
NM_001113378.2(FANCI):c.3654T>C (p.Asn1218=)
|
|
|
|
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)
|
rs1567179036
|
|
|
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
|
|
|
|
NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val)
|
|
|
|
NM_001113378.2(FANCI):c.3669G>C (p.Leu1223=)
|
|
|
|
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs)
|
rs1596336945
|
|
|
NM_001113378.2(FANCI):c.366G>A (p.Val122=)
|
|
|
|
NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp)
|
|
|
|
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
|
|
|
|
NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser)
|
|
|
|
NM_001113378.2(FANCI):c.3678G>C (p.Thr1226=)
|
rs748187517
|
|
|
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
|
|
|
|
NM_001113378.2(FANCI):c.3689A>T (p.Lys1230Met)
|
|
|
|
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu)
|
rs1252915442
|
|
|
NM_001113378.2(FANCI):c.3696A>G (p.Lys1232=)
|
|
|
|
NM_001113378.2(FANCI):c.3696A>T (p.Lys1232Asn)
|
rs2055028402
|
|
|
NM_001113378.2(FANCI):c.3709G>A (p.Ala1237Thr)
|
rs751025656
|
|
|
NM_001113378.2(FANCI):c.3714A>T (p.Thr1238=)
|
|
|
|
NM_001113378.2(FANCI):c.3720+11G>A
|
|
|
|
NM_001113378.2(FANCI):c.3720+14A>G
|
rs200012909
|
|
|
NM_001113378.2(FANCI):c.3720+14A>T
|
|
|
|
NM_001113378.2(FANCI):c.3720+16T>A
|
|
|
|
NM_001113378.2(FANCI):c.3720+16_3720+19del
|
rs759240153
|
|
|
NM_001113378.2(FANCI):c.3720+20C>A
|
|
|
|
NM_001113378.2(FANCI):c.3720+20C>G
|
|
|
|
NM_001113378.2(FANCI):c.3720+20C>T
|
rs572665348
|
|
|
NM_001113378.2(FANCI):c.3721-16T>C
|
|
|
|
NM_001113378.2(FANCI):c.3721-20C>G
|
rs2152016160
|
|
|
NM_001113378.2(FANCI):c.3721-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.3721-6C>T
|
rs2152016648
|
|
|
NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys)
|
rs2055130158
|
|
|
NM_001113378.2(FANCI):c.372A>G (p.Gly124=)
|
rs2151268209
|
|
|
NM_001113378.2(FANCI):c.3733C>T (p.Arg1245Trp)
|
rs905867236
|
|
|
NM_001113378.2(FANCI):c.3737A>C (p.Glu1246Ala)
|
rs2152016970
|
|
|
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val)
|
rs2055130868
|
|
|
NM_001113378.2(FANCI):c.3753T>G (p.Pro1251=)
|
|
|
|
NM_001113378.2(FANCI):c.3756C>T (p.Asn1252=)
|
|
|
|
NM_001113378.2(FANCI):c.3759C>G (p.Leu1253=)
|
|
|
|
NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro)
|
|
|
|
NM_001113378.2(FANCI):c.3777G>A (p.Gln1259=)
|
|
|
|
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter)
|
rs1060501900
|
|
|
NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe)
|
|
|
|
NM_001113378.2(FANCI):c.3795C>A (p.Ile1265=)
|
|
|
|
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr)
|
rs2152017364
|
|
|
NM_001113378.2(FANCI):c.379T>G (p.Leu127Val)
|
|
|
|
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)
|
rs2152017390
|
|
|
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
|
|
|
|
NM_001113378.2(FANCI):c.3816+10C>T
|
|
|
|
NM_001113378.2(FANCI):c.3816+12_3816+13del
|
|
|
|
NM_001113378.2(FANCI):c.3816+16T>C
|
|
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
|
NM_001113378.2(FANCI):c.3816+18A>T
|
|
|
|
NM_001113378.2(FANCI):c.3817-10C>T
|
|
|
|
NM_001113378.2(FANCI):c.3817-11T>C
|
|
|
|
NM_001113378.2(FANCI):c.3817-13A>C
|
|
|
|
NM_001113378.2(FANCI):c.3817-13A>G
|
|
|
|
NM_001113378.2(FANCI):c.3817-14C>A
|
|
|
|
NM_001113378.2(FANCI):c.3817-18C>T
|
|
|
|
NM_001113378.2(FANCI):c.3817-8T>C
|
|
|
|
NM_001113378.2(FANCI):c.3817-8T>G
|
|
|
|
NM_001113378.2(FANCI):c.3817-9T>C
|
|
|
|
NM_001113378.2(FANCI):c.3819G>C (p.Val1273=)
|
|
|
|
NM_001113378.2(FANCI):c.3822C>T (p.Asn1274=)
|
|
|
|
NM_001113378.2(FANCI):c.3828G>A (p.Met1276Ile)
|
rs745401006
|
|
|
NM_001113378.2(FANCI):c.3830A>G (p.Gln1277Arg)
|
rs2152030610
|
|
|
NM_001113378.2(FANCI):c.3831G>A (p.Gln1277=)
|
|
|
|
NM_001113378.2(FANCI):c.3836T>C (p.Met1279Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3840G>A (p.Lys1280=)
|
|
|
|
NM_001113378.2(FANCI):c.3848C>G (p.Thr1283Ser)
|
rs2055184928
|
|
|
NM_001113378.2(FANCI):c.3848C>T (p.Thr1283Ile)
|
rs2055184928
|
|
|
NM_001113378.2(FANCI):c.3849C>T (p.Thr1283=)
|
|
|
|
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
|
|
|
|
NM_001113378.2(FANCI):c.384G>A (p.Glu128=)
|
|
|
|
NM_001113378.2(FANCI):c.3864G>A (p.Lys1288=)
|
rs2152030838
|
|
|
NM_001113378.2(FANCI):c.3864_3869del (p.Ile1289_Lys1290del)
|
rs2152030819
|
|
|
NM_001113378.2(FANCI):c.3872G>C (p.Gly1291Ala)
|
|
|
|
NM_001113378.2(FANCI):c.3875A>G (p.Asn1292Ser)
|
rs2055185392
|
|
|
NM_001113378.2(FANCI):c.3880C>T (p.Leu1294=)
|
|
|
|
NM_001113378.2(FANCI):c.3882A>G (p.Leu1294=)
|
|
|
|
NM_001113378.2(FANCI):c.3886A>T (p.Met1296Leu)
|
|
|
|
NM_001113378.2(FANCI):c.3887T>C (p.Met1296Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3888G>A (p.Met1296Ile)
|
rs777500700
|
|
|
NM_001113378.2(FANCI):c.388C>T (p.Leu130=)
|
|
|
|
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile)
|
rs150076848
|
|
|
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly)
|
rs551305056
|
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
|
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln)
|
rs138663330
|
|
|
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
|
|
|
|
NM_001113378.2(FANCI):c.3908A>G (p.Glu1303Gly)
|
rs1596343025
|
|
|
NM_001113378.2(FANCI):c.390A>G (p.Leu130=)
|
|
|
|
NM_001113378.2(FANCI):c.3918T>C (p.Asn1306=)
|
rs561190476
|
|
|
NM_001113378.2(FANCI):c.3921A>G (p.Glu1307=)
|
|
|
|
NM_001113378.2(FANCI):c.3924+12C>A
|
|
|
|
NM_001113378.2(FANCI):c.3924+12C>T
|
|
|
|
NM_001113378.2(FANCI):c.3924+15_3924+16del
|
|
|
|
NM_001113378.2(FANCI):c.3924+16T>C
|
|
|
|
NM_001113378.2(FANCI):c.3924+17G>A
|
|
|
|
NM_001113378.2(FANCI):c.3924+19C>T
|
|
|
|
NM_001113378.2(FANCI):c.3924+1G>A
|
rs864622739
|
|
|
NM_001113378.2(FANCI):c.3924+1G>T
|
|
|
|
NM_001113378.2(FANCI):c.3924+20T>C
|
|
|
|
NM_001113378.2(FANCI):c.3924+8C>T
|
rs2055187470
|
|
|
NM_001113378.2(FANCI):c.3925-10_3935inv
|
|
|
|
NM_001113378.2(FANCI):c.3925-11del
|
|
|
|
NM_001113378.2(FANCI):c.3925-13_3925-10dup
|
|
|
|
NM_001113378.2(FANCI):c.3925-14C>A
|
|
|
|
NM_001113378.2(FANCI):c.3925-14C>T
|
|
|
|
NM_001113378.2(FANCI):c.3925-15_3925-11dup
|
|
|
|
NM_001113378.2(FANCI):c.3925-17A>C
|
|
|
|
NM_001113378.2(FANCI):c.3925-17A>G
|
rs1164805902
|
|
|
NM_001113378.2(FANCI):c.3925-5T>C
|
|
|
|
NM_001113378.2(FANCI):c.3925-6T>G
|
|
|
|
NM_001113378.2(FANCI):c.3925-7C>T
|
rs1389176310
|
|
|
NM_001113378.2(FANCI):c.3925-7del
|
|
|
|
NM_001113378.2(FANCI):c.3925-9C>T
|
rs750218626
|
|
|
NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=)
|
rs1275616370
|
|
|
NM_001113378.2(FANCI):c.3939G>A (p.Glu1313=)
|
|
|
|
NM_001113378.2(FANCI):c.393T>G (p.Pro131=)
|
|
|
|
NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=)
|
rs1443770274
|
|
|
NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs)
|
rs2152049557
|
|
|
NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val)
|
rs771174269
|
|
|
NM_001113378.2(FANCI):c.3969G>A (p.Lys1323=)
|
|
|
|
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg)
|
rs1402252175
|
|
|
NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)
|
|
|
|
NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs)
|
rs771578684
|
|
|
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn)
|
rs1159813655
|
|
|
NM_001113378.2(FANCI):c.3984A>G (p.Lys1328=)
|
|
|
|
NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)
|
|
|
|
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys)
|
rs1411317487
|
|
|
NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329_Ter(1329_?)(?))
|
|
|
|
NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr)
|
rs2052049943
|
|
|
NM_001113378.2(FANCI):c.429T>A (p.Asn143Lys)
|
rs2052718668
|
|
|
NM_001113378.2(FANCI):c.437A>G (p.Tyr146Cys)
|
|
|
|
NM_001113378.2(FANCI):c.438T>C (p.Tyr146=)
|
|
|
|
NM_001113378.2(FANCI):c.441A>G (p.Gly147=)
|
|
|
|
NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg)
|
rs1282962332
|
|
|
NM_001113378.2(FANCI):c.445+11T>G
|
|
|
|
NM_001113378.2(FANCI):c.445+12C>T
|
|
|
|
NM_001113378.2(FANCI):c.445+13C>A
|
|
|
|
NM_001113378.2(FANCI):c.445+15A>T
|
|
|
|
NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser)
|
rs763494935
|
|
|
NM_001113378.2(FANCI):c.446-10G>A
|
|
|
|
NM_001113378.2(FANCI):c.446-17A>G
|
rs768395269
|
|
|
NM_001113378.2(FANCI):c.446-20A>G
|
|
|
|
NM_001113378.2(FANCI):c.446-2A>G
|
|
|
|
NM_001113378.2(FANCI):c.446-4C>A
|
rs1178021756
|
|
|
NM_001113378.2(FANCI):c.446-7T>C
|
|
|
|
NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu)
|
rs765811874
|
|
|
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys)
|
rs766640605
|
|
|
NM_001113378.2(FANCI):c.466T>C (p.Cys156Arg)
|
|
|
|
NM_001113378.2(FANCI):c.473A>T (p.Lys158Ile)
|
|
|
|
NM_001113378.2(FANCI):c.474dup (p.Gln159fs)
|
|
|
|
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
|
|
|
|
NM_001113378.2(FANCI):c.477G>T (p.Gln159His)
|
|
|
|
NM_001113378.2(FANCI):c.483T>A (p.Ile161=)
|
|
|
|
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
|
|
|
|
NM_001113378.2(FANCI):c.489C>G (p.Thr163=)
|
|
|
|
NM_001113378.2(FANCI):c.490C>T (p.Leu164=)
|
|
|
|
NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr)
|
rs2151054381
|
|
|
NM_001113378.2(FANCI):c.501C>G (p.Gly167=)
|
|
|
|
NM_001113378.2(FANCI):c.501C>T (p.Gly167=)
|
rs2151271104
|
|
|
NM_001113378.2(FANCI):c.503+19T>G
|
|
|
|
NM_001113378.2(FANCI):c.503+6T>G
|
|
|
|
NM_001113378.2(FANCI):c.504-10C>A
|
|
|
|
NM_001113378.2(FANCI):c.504-10C>T
|
|
|
|
NM_001113378.2(FANCI):c.504-12T>C
|
|
|
|
NM_001113378.2(FANCI):c.504-15A>G
|
|
|
|
NM_001113378.2(FANCI):c.504-16C>T
|
rs1293392490
|
|
|
NM_001113378.2(FANCI):c.504-2A>G
|
|
|
|
NM_001113378.2(FANCI):c.504-5A>G
|
|
|
|
NM_001113378.2(FANCI):c.504-7C>T
|
|
|
|
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter)
|
rs878854181
|
|
|
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
|
|
|
|
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val)
|
rs1328734606
|
|
|
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
|
|
|
|
NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg)
|
rs775891592
|
|
|
NM_001113378.2(FANCI):c.516A>G (p.Gln172=)
|
|
|
|
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His)
|
rs2151291390
|
|
|
NM_001113378.2(FANCI):c.519T>C (p.Tyr173=)
|
rs1392387292
|
|
|
NM_001113378.2(FANCI):c.51G>T (p.Leu17=)
|
|
|
|
NM_001113378.2(FANCI):c.531C>G (p.Leu177=)
|
|
|
|
NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)
|
|
|
|
NM_001113378.2(FANCI):c.542_545+57del
|
|
|
|
NM_001113378.2(FANCI):c.545+12C>G
|
rs2052802070
|
|
|
NM_001113378.2(FANCI):c.545+16del
|
|
|
|
NM_001113378.2(FANCI):c.545+17C>T
|
|
|
|
NM_001113378.2(FANCI):c.545+18C>T
|
|
|
|
NM_001113378.2(FANCI):c.545+7A>G
|
rs1439143383
|
|
|
NM_001113378.2(FANCI):c.545+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.546-18A>G
|
rs2151297022
|
|
|
NM_001113378.2(FANCI):c.546-4A>G
|
|
|
|
NM_001113378.2(FANCI):c.548A>T (p.Asp183Val)
|
|
|
|
NM_001113378.2(FANCI):c.553C>T (p.Pro185Ser)
|
|
|
|
NM_001113378.2(FANCI):c.555T>C (p.Pro185=)
|
|
|
|
NM_001113378.2(FANCI):c.558G>C (p.Leu186=)
|
rs746658213
|
|
|
NM_001113378.2(FANCI):c.560C>G (p.Thr187Ser)
|
|
|
|
NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu)
|
rs2052827709
|
|
|
NM_001113378.2(FANCI):c.564A>G (p.Ala188=)
|
rs1376947158
|
|
|
NM_001113378.2(FANCI):c.565G>A (p.Glu189Lys)
|
rs2052827867
|
|
|
NM_001113378.2(FANCI):c.565G>C (p.Glu189Gln)
|
|
|
|
NM_001113378.2(FANCI):c.568G>C (p.Glu190Gln)
|
|
|
|
NM_001113378.2(FANCI):c.573G>A (p.Val191=)
|
|
|
|
NM_001113378.2(FANCI):c.574G>C (p.Glu192Gln)
|
|
|
|
NM_001113378.2(FANCI):c.576A>G (p.Glu192=)
|
|
|
|
NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala)
|
|
|
|
NM_001113378.2(FANCI):c.594A>G (p.Ala198=)
|
|
|
|
NM_001113378.2(FANCI):c.599G>T (p.Ser200Ile)
|
|
|
|
NM_001113378.2(FANCI):c.603G>A (p.Met201Ile)
|
|
|
|
NM_001113378.2(FANCI):c.609C>A (p.Ser203=)
|
|
|
|
NM_001113378.2(FANCI):c.615G>C (p.Met205Ile)
|
|
|
|
NM_001113378.2(FANCI):c.620T>A (p.Leu207His)
|
|
|
|
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg)
|
rs368033980
|
|
|
NM_001113378.2(FANCI):c.624A>G (p.Gln208=)
|
|
|
|
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
|
|
|
|
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
|
|
|
|
NM_001113378.2(FANCI):c.634C>T (p.Pro212Ser)
|
rs2151297988
|
|
|
NM_001113378.2(FANCI):c.642C>G (p.Val214=)
|
rs2052830189
|
|
|
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe)
|
rs2052830473
|
|
|
NM_001113378.2(FANCI):c.651T>G (p.Leu217=)
|
|
|
|
NM_001113378.2(FANCI):c.654G>A (p.Leu218=)
|
|
|
|
NM_001113378.2(FANCI):c.660C>G (p.Leu220=)
|
|
|
|
NM_001113378.2(FANCI):c.669+15T>C
|
|
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
|
NM_001113378.2(FANCI):c.669+18T>C
|
|
|
|
NM_001113378.2(FANCI):c.669+7A>G
|
|
|
|
NM_001113378.2(FANCI):c.670-11A>G
|
|
|
|
NM_001113378.2(FANCI):c.670-13G>A
|
|
|
|
NM_001113378.2(FANCI):c.670-17T>C
|
|
|
|
NM_001113378.2(FANCI):c.670-18A>G
|
|
|
|
NM_001113378.2(FANCI):c.670-8_670-6del
|
rs747690719
|
|
|
NM_001113378.2(FANCI):c.688T>G (p.Leu230Val)
|
rs2151304688
|
|
|
NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)
|
|
|
|
NM_001113378.2(FANCI):c.690G>A (p.Leu230=)
|
|
|
|
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
|
rs2052856419
|
|
|
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val)
|
rs757102747
|
|
|
NM_001113378.2(FANCI):c.69C>T (p.Thr23=)
|
|
|
|
NM_001113378.2(FANCI):c.706T>C (p.Phe236Leu)
|
rs1356319036
|
|
|
NM_001113378.2(FANCI):c.706_707delinsGC (p.Phe236Ala)
|
rs2151304891
|
|
|
NM_001113378.2(FANCI):c.70C>T (p.Leu24=)
|
|
|
|
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
|
|
|
|
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
|
|
|
|
NM_001113378.2(FANCI):c.741A>G (p.Glu247=)
|
rs2151305242
|
|
|
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn)
|
rs2052858701
|
|
|
NM_001113378.2(FANCI):c.754G>C (p.Glu252Gln)
|
|
|
|
NM_001113378.2(FANCI):c.755+13G>A
|
|
|
|
NM_001113378.2(FANCI):c.755+14T>C
|
|
|
|
NM_001113378.2(FANCI):c.755+16T>C
|
|
|
|
NM_001113378.2(FANCI):c.755+20A>T
|
|
|
|
NM_001113378.2(FANCI):c.755+3G>A
|
rs2151305411
|
|
|
NM_001113378.2(FANCI):c.756-15T>C
|
|
|
|
NM_001113378.2(FANCI):c.756-4T>G
|
rs1332788738
|
|
|
NM_001113378.2(FANCI):c.756-6T>C
|
|
|
|
NM_001113378.2(FANCI):c.756-7C>A
|
|
|
|
NM_001113378.2(FANCI):c.756-8T>C
|
|
|
|
NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile)
|
|
|
|
NM_001113378.2(FANCI):c.760T>C (p.Leu254=)
|
rs1567148345
|
|
|
NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu)
|
|
|
|
NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del)
|
rs1322941307
|
|
|
NM_001113378.2(FANCI):c.774T>G (p.Thr258=)
|
|
|
|
NM_001113378.2(FANCI):c.777G>A (p.Val259=)
|
|
|
|
NM_001113378.2(FANCI):c.777G>T (p.Val259=)
|
|
|
|
NM_001113378.2(FANCI):c.791T>A (p.Leu264His)
|
|
|
|
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala)
|
rs1005232714
|
|
|
NM_001113378.2(FANCI):c.805G>A (p.Gly269Ser)
|
|
|
|
NM_001113378.2(FANCI):c.816T>C (p.Ile272=)
|
rs746104364
|
|
|
NM_001113378.2(FANCI):c.819A>T (p.Leu273=)
|
rs1596258380
|
|
|
NM_001113378.2(FANCI):c.822C>T (p.His274=)
|
rs2053064054
|
|
|
NM_001113378.2(FANCI):c.827T>C (p.Val276Ala)
|
|
|
|
NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
|
|
|
NM_001113378.2(FANCI):c.835A>G (p.Ile279Val)
|
rs1434427258
|
|
|
NM_001113378.2(FANCI):c.838A>C (p.Lys280Gln)
|
rs2053065030
|
|
|
NM_001113378.2(FANCI):c.838A>G (p.Lys280Glu)
|
|
|
|
NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly)
|
rs1060501902
|
|
|
NM_001113378.2(FANCI):c.84+13A>C
|
|
|
|
NM_001113378.2(FANCI):c.84+16C>T
|
rs2052052021
|
|
|
NM_001113378.2(FANCI):c.84+17A>G
|
|
|
|
NM_001113378.2(FANCI):c.84+19G>A
|
rs2151055776
|
|
|
NM_001113378.2(FANCI):c.84+2_84+3del
|
|
|
|
NM_001113378.2(FANCI):c.84+6dup
|
rs1275602094
|
|
|
NM_001113378.2(FANCI):c.84+7A>T
|
rs2151055602
|
|
|
NM_001113378.2(FANCI):c.840A>G (p.Lys280=)
|
|
|
|
NM_001113378.2(FANCI):c.849T>C (p.Tyr283=)
|
|
|
|
NM_001113378.2(FANCI):c.85-10T>C
|
|
|
|
NM_001113378.2(FANCI):c.85-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.85-19C>A
|
|
|
|
NM_001113378.2(FANCI):c.85-19C>G
|
|
|
|
NM_001113378.2(FANCI):c.85-1G>A
|
|
|
|
NM_001113378.2(FANCI):c.85-1G>T
|
|
|
|
NM_001113378.2(FANCI):c.85-22_85-15del
|
|
|
|
NM_001113378.2(FANCI):c.85-2A>G
|
|
|
|
NM_001113378.2(FANCI):c.85-8C>G
|
|
|
|
NM_001113378.2(FANCI):c.85-8_85-5del
|
|
|
|
NM_001113378.2(FANCI):c.85-8_85-7del
|
|
|
|
NM_001113378.2(FANCI):c.855A>T (p.Leu285=)
|
|
|
|
NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe)
|
|
|
|
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
|
rs1210148997
|
|
|
NM_001113378.2(FANCI):c.867C>T (p.Leu289=)
|
|
|
|
NM_001113378.2(FANCI):c.870G>C (p.Val290=)
|
|
|
|
NM_001113378.2(FANCI):c.876_879del (p.His292fs)
|
rs2053066105
|
|
|
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
|
|
|
|
NM_001113378.2(FANCI):c.879_882+14del
|
|
|
|
NM_001113378.2(FANCI):c.882+12C>G
|
|
|
|
NM_001113378.2(FANCI):c.882+12C>T
|
|
|
|
NM_001113378.2(FANCI):c.882+15G>A
|
|
|
|
NM_001113378.2(FANCI):c.882+15G>C
|
|
|
|
NM_001113378.2(FANCI):c.882+16T>G
|
|
|
|
NM_001113378.2(FANCI):c.882+18A>G
|
|
|
|
NM_001113378.2(FANCI):c.882+2T>A
|
rs2053066295
|
|
|
NM_001113378.2(FANCI):c.882+2T>C
|
|
|
|
NM_001113378.2(FANCI):c.882+6A>G
|
|
|
|
NM_001113378.2(FANCI):c.883-11C>T
|
|
|
|
NM_001113378.2(FANCI):c.883-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.883-4C>G
|
rs2053277160
|
|
|
NM_001113378.2(FANCI):c.883-7C>T
|
|
|
|
NM_001113378.2(FANCI):c.883-9C>G
|
|
|
|
NM_001113378.2(FANCI):c.885A>G (p.Val295=)
|
rs1159439786
|
|
|
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)
|
rs754986558
|
|
|
NM_001113378.2(FANCI):c.894A>G (p.Gln298=)
|
|
|
|
NM_001113378.2(FANCI):c.896G>A (p.Gly299Glu)
|
rs2053277582
|
|
|
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr)
|
rs1567151740
|
|
|
NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg)
|
|
|
|
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser)
|
rs2053277912
|
|
|
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs)
|
|
|
|
NM_001113378.2(FANCI):c.919_920delinsGT (p.Pro307Val)
|
rs2053278264
|
|
|
NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile)
|
|
|
|
NM_001113378.2(FANCI):c.933TCT[2] (p.Leu314del)
|
rs766563407
|
|
|
NM_001113378.2(FANCI):c.937C>G (p.Leu313Val)
|
|
|
|
NM_001113378.2(FANCI):c.938T>C (p.Leu313Pro)
|
|
|
|
NM_001113378.2(FANCI):c.93T>C (p.Asn31=)
|
|
|
|
NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys)
|
|
|
|
NM_001113378.2(FANCI):c.950C>G (p.Thr317Arg)
|
rs774051668
|
|
|
NM_001113378.2(FANCI):c.953G>T (p.Arg318Ile)
|
|
|
|
NM_001113378.2(FANCI):c.956T>C (p.Ile319Thr)
|
rs1024430096
|
|
|
NM_001113378.2(FANCI):c.960A>G (p.Gln320=)
|
|
|
|
NM_001113378.2(FANCI):c.96_98del (p.Leu33del)
|
rs747603151
|
|
|
NM_001113378.2(FANCI):c.970G>T (p.Asp324Tyr)
|
rs2151439651
|
|
|
NM_001113378.2(FANCI):c.975+10dup
|
rs751890595
|
|
|
NM_001113378.2(FANCI):c.975+19A>G
|
|
|
|
NM_001113378.2(FANCI):c.975+20T>C
|
|
|
|
NM_001113378.2(FANCI):c.975+23dup
|
|
|
|
NM_001113378.2(FANCI):c.976-13A>C
|
|
|
|
NM_001113378.2(FANCI):c.976-1G>T
|
|
|
|
NM_001113378.2(FANCI):c.976-2_977dup
|
|
|
|
NM_001113378.2(FANCI):c.976-9A>T
|
|
|
|
NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro)
|
rs2053317531
|
|
|
NM_001113378.2(FANCI):c.996T>G (p.Thr332=)
|
|
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
|
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu)
|
rs761982725
|
|
|
NM_001113378.2(FANCI):c.9G>C (p.Gln3His)
|
|
|
|
NM_001113525.2(ZNF276):c.*1046A>G
|
rs1257557473
|
|
|
NM_001113525.2(ZNF276):c.*1049G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1050G>A
|
rs1463777596
|
|
|
NM_001113525.2(ZNF276):c.*1051T>G
|
|
|
|
NM_001113525.2(ZNF276):c.*1052A>G
|
rs2151712130
|
|
|
NM_001113525.2(ZNF276):c.*1057C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1058A>G
|
|
|
|
NM_001113525.2(ZNF276):c.*1059_*1060del
|
|
|
|
NM_001113525.2(ZNF276):c.*1062T>C
|
rs2151712162
|
|
|
NM_001113525.2(ZNF276):c.*1212A>C
|
|
|
|
NM_001113525.2(ZNF276):c.*1212_*1217del
|
|
|
|
NM_001113525.2(ZNF276):c.*1213G>A
|
rs978377623
|
|
|
NM_001113525.2(ZNF276):c.*1215C>A
|
rs1318852669
|
|
|
NM_001113525.2(ZNF276):c.*1216C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1216del
|
|
|
|
NM_001113525.2(ZNF276):c.*1218G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1219T>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1221G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1221G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1223T>C
|
rs1383806921
|
|
|
NM_001113525.2(ZNF276):c.*1223T>G
|
rs1383806921
|
|
|
NM_001113525.2(ZNF276):c.*1225G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1227G>A
|
rs1353285713
|
|
|
NM_001113525.2(ZNF276):c.*1310G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*1314C>T
|
rs2062071481
|
|
|
NM_001113525.2(ZNF276):c.*1316C>G
|
rs9282680
|
|
|
NM_001113525.2(ZNF276):c.*1317C>G
|
rs2062071933
|
|
|
NM_001113525.2(ZNF276):c.*1322_*1323delinsGA
|
rs2151713121
|
|
|
NM_001113525.2(ZNF276):c.*1327C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1728C>T
|
rs2151714503
|
|
|
NM_001113525.2(ZNF276):c.*1731AGC[1]
|
|
|
|
NM_001113525.2(ZNF276):c.*1735G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1736C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1737G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1737GT[1]
|
rs1491270557
|
|
|
NM_001113525.2(ZNF276):c.*1739G>C
|
rs201323033
|
|
|
NM_001113525.2(ZNF276):c.*1740T>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1741_*1742del
|
rs2151714552
|
|
|
NM_001113525.2(ZNF276):c.*1743C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1744T>C
|
rs2062087707
|
|
|
NM_001113525.2(ZNF276):c.*1857T>A
|
rs2151714907
|
|
|
NM_001113525.2(ZNF276):c.*1860A>G
|
|
|
|
NM_001113525.2(ZNF276):c.*1861C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1862C>A
|
rs776077648
|
|
|
NM_001113525.2(ZNF276):c.*1867G>A
|
rs762916608
|
|
|
NM_001113525.2(ZNF276):c.*1867G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*1869G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*2515_*2543del
|
|
|
|
NM_001113525.2(ZNF276):c.*2541G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*2542G>A
|
rs900858198
|
|
|
NM_001113525.2(ZNF276):c.*2542G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*2546G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*2546G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*2548T>G
|
|
|
|
NM_001113525.2(ZNF276):c.*2551G>A
|
rs1443117288
|
|
|
NM_001113525.2(ZNF276):c.*2551G>C
|
rs1443117288
|
|
|
NM_001113525.2(ZNF276):c.*2623G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*2625A>G
|
rs2151716900
|
|
|
NM_001113525.2(ZNF276):c.*2632A>G
|
|
|
|
NM_001113525.2(ZNF276):c.*2633_*2634dup
|
|
|
|
NM_001113525.2(ZNF276):c.*2635G>A
|
rs749085160
|
|
|
NM_001113525.2(ZNF276):c.*2635G>C
|
rs749085160
|
|
|
NM_001113525.2(ZNF276):c.*2636T>A
|
|
|
|
NM_001113525.2(ZNF276):c.*2638C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*2639A>G
|
rs927937594
|
|
|
NM_001113525.2(ZNF276):c.*2640C>A
|
|
|
|
NM_001113525.2(ZNF276):c.*2640_*2642del
|
|
|
|
NM_001113525.2(ZNF276):c.*466T>A
|
rs2062032155
|
|
|
NM_001113525.2(ZNF276):c.*467G>A
|
rs2151710015
|
|
|
NM_001113525.2(ZNF276):c.*468AG[2]
|
|
|
|
NM_001113525.2(ZNF276):c.*468AG[4]
|
rs746081933
|
|
|
NM_001113525.2(ZNF276):c.*469G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*470A>G
|
rs372268907
|
|
|
NM_001113525.2(ZNF276):c.*471G>A
|
rs368506826
|
|
|
NM_001113525.2(ZNF276):c.*471GAG[1]
|
rs2151710048
|
|
|
NM_001113525.2(ZNF276):c.*472A>G
|
rs2151710055
|
|
|
NM_001113525.2(ZNF276):c.*474G>A
|
rs751989527
|
|
|
NM_001113525.2(ZNF276):c.*474G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*474_*481del
|
rs1567591276
|
|
|
NM_001113525.2(ZNF276):c.*478A>G
|
|
|
|
NM_001113525.2(ZNF276):c.*479G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*480G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*482C>A
|
|
|
|
NM_001113525.2(ZNF276):c.*523_*538del
|
|
|
|
NM_001113525.2(ZNF276):c.*607_*630del
|
rs2151710539
|
|
|
NM_001113525.2(ZNF276):c.*616G>A
|
rs1019949093
|
|
|
NM_001113525.2(ZNF276):c.*617G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*620G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*622C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*623dup
|
|
|
|
NM_001113525.2(ZNF276):c.*627T>C
|
rs2151710610
|
|
|
NM_001113525.2(ZNF276):c.*629A>C
|
|
|
|
NM_001113525.2(ZNF276):c.*630C>A
|
rs374793201
|
|
|
NM_001113525.2(ZNF276):c.*630C>G
|
rs374793201
|
|
|
NM_001113525.2(ZNF276):c.*630C>T
|
rs374793201
|
|
|
NM_001113525.2(ZNF276):c.*631G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*732G>A
|
rs775180524
|
|
|
NM_001113525.2(ZNF276):c.*732GA[2]
|
rs2062047195
|
|
|
NM_001113525.2(ZNF276):c.*733A>G
|
rs2151710982
|
|
|
NM_001113525.2(ZNF276):c.*734G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*734G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*736G>C
|
rs1235913738
|
|
|
NM_001113525.2(ZNF276):c.*737A>C
|
rs1235253861
|
|
|
NM_001113525.2(ZNF276):c.*737A>G
|
rs1235253861
|
|
|
NM_001113525.2(ZNF276):c.*738A>G
|
rs2151711012
|
|
|
NM_001113525.2(ZNF276):c.*741C>G
|
|
|
|
NM_001113525.2(ZNF276):c.*742A>G
|
rs2151711032
|
|
|
NM_001113525.2(ZNF276):c.*747A>C
|
|
|
|
NM_001113525.2(ZNF276):c.*814del
|
|
|
|
NM_001113525.2(ZNF276):c.*867G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*868G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*870C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*872G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*875C>T
|
rs2151711547
|
|
|
NM_001113525.2(ZNF276):c.*876C>G
|
|
|
|
NM_001113525.2(ZNF276):c.*879G>C
|
rs772665586
|
|
|
NM_001113525.2(ZNF276):c.*879dup
|
|
|
|
NM_002049.4(GATA1):c.-4_21del (p.Met1fs)
|
|
|
|
NM_002049.4(GATA1):c.1005G>A (p.Met335Ile)
|
|
|
|
NM_002049.4(GATA1):c.1017G>C (p.Gly339=)
|
|
|
|
NM_002049.4(GATA1):c.1019G>A (p.Gly340Asp)
|
|
|
|
NM_002049.4(GATA1):c.1023C>T (p.Ser341=)
|
|
|
|
NM_002049.4(GATA1):c.1030G>A (p.Gly344Arg)
|
|
|
|
NM_002049.4(GATA1):c.1036T>C (p.Cys346Arg)
|
rs2147307619
|
|
|
NM_002049.4(GATA1):c.1043A>C (p.Glu348Ala)
|
|
|
|
NM_002049.4(GATA1):c.1056C>T (p.Gly352=)
|
|
|
|
NM_002049.4(GATA1):c.1059G>C (p.Leu353=)
|
rs2147307659
|
|
|
NM_002049.4(GATA1):c.105dup (p.Ser36fs)
|
rs1273620943
|
|
|
NM_002049.4(GATA1):c.1066G>A (p.Gly356Ser)
|
|
|
|
NM_002049.4(GATA1):c.1067G>T (p.Gly356Val)
|
rs202091014
|
|
|
NM_002049.4(GATA1):c.1068C>A (p.Gly356=)
|
|
|
|
NM_002049.4(GATA1):c.107C>T (p.Ser36Phe)
|
|
|
|
NM_002049.4(GATA1):c.1086T>C (p.His362=)
|
|
|
|
NM_002049.4(GATA1):c.1092C>G (p.Tyr364Ter)
|
rs1557020612
|
|
|
NM_002049.4(GATA1):c.1096G>A (p.Gly366Ser)
|
|
|
|
NM_002049.4(GATA1):c.1097G>T (p.Gly366Val)
|
|
|
|
NM_002049.4(GATA1):c.1102G>A (p.Gly368Ser)
|
|
|
|
NM_002049.4(GATA1):c.1102G>C (p.Gly368Arg)
|
|
|
|
NM_002049.4(GATA1):c.1111G>A (p.Val371Met)
|
|
|
|
NM_002049.4(GATA1):c.1135C>G (p.Leu379Val)
|
|
|
|
NM_002049.4(GATA1):c.1146C>T (p.Phe382=)
|
|
|
|
NM_002049.4(GATA1):c.1152A>C (p.Gly384=)
|
|
|
|
NM_002049.4(GATA1):c.1159C>T (p.Leu387=)
|
|
|
|
NM_002049.4(GATA1):c.1160T>C (p.Leu387Pro)
|
|
|
|
NM_002049.4(GATA1):c.1168C>G (p.Pro390Ala)
|
|
|
|
NM_002049.4(GATA1):c.1175G>A (p.Gly392Asp)
|
|
|
|
NM_002049.4(GATA1):c.1177T>C (p.Ser393Pro)
|
rs2147307800
|
|
|
NM_002049.4(GATA1):c.1179C>T (p.Ser393=)
|
rs781868016
|
|
|
NM_002049.4(GATA1):c.117G>A (p.Glu39=)
|
|
|
|
NM_002049.4(GATA1):c.1185C>G (p.Pro395=)
|
|
|
|
NM_002049.4(GATA1):c.1188A>C (p.Thr396=)
|
rs2147307813
|
|
|
NM_002049.4(GATA1):c.1191C>T (p.Gly397=)
|
|
|
|
NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)
|
|
|
|
NM_002049.4(GATA1):c.1197G>A (p.Met399Ile)
|
|
|
|
NM_002049.4(GATA1):c.1198C>T (p.Pro400Ser)
|
|
|
|
NM_002049.4(GATA1):c.1200_1217del (p.Pro401_Thr406del)
|
|
|
|
NM_002049.4(GATA1):c.1201C>A (p.Pro401Thr)
|
|
|
|
NM_002049.4(GATA1):c.1215T>A (p.Thr405=)
|
|
|
|
NM_002049.4(GATA1):c.1218T>C (p.Thr406=)
|
|
|
|
NM_002049.4(GATA1):c.1229C>T (p.Pro410Leu)
|
|
|
|
NM_002049.4(GATA1):c.122T>G (p.Leu41Trp)
|
|
|
|
NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
|
|
|
|
NM_002049.4(GATA1):c.1236C>A (p.Ser412Arg)
|
|
|
|
NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
|
|
|
|
NM_002049.4(GATA1):c.143C>A (p.Thr48Asn)
|
|
|
|
NM_002049.4(GATA1):c.145G>A (p.Ala49Thr)
|
rs781856701
|
|
|
NM_002049.4(GATA1):c.147C>A (p.Ala49=)
|
rs2147305674
|
|
|
NM_002049.4(GATA1):c.149C>G (p.Pro50Arg)
|
|
|
|
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn)
|
rs2062674054
|
|
|
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
|
rs398124628
|
|
|
NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
|
|
|
|
NM_002049.4(GATA1):c.156A>C (p.Thr52=)
|
|
|
|
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs)
|
rs2147305695
|
|
|
NM_002049.4(GATA1):c.160A>T (p.Thr54Ser)
|
|
|
|
NM_002049.4(GATA1):c.162_164del (p.Ala59del)
|
|
|
|
NM_002049.4(GATA1):c.164C>T (p.Ala55Val)
|
|
|
|
NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
|
|
|
|
NM_002049.4(GATA1):c.166G>A (p.Ala56Thr)
|
|
|
|
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.196G>A (p.Ala66Thr)
|
|
|
|
NM_002049.4(GATA1):c.196G>C (p.Ala66Pro)
|
rs149753411
|
|
|
NM_002049.4(GATA1):c.19G>C (p.Gly7Arg)
|
|
|
|
NM_002049.4(GATA1):c.207C>T (p.Tyr69=)
|
rs1602219215
|
|
|
NM_002049.4(GATA1):c.209G>C (p.Arg70Thr)
|
|
|
|
NM_002049.4(GATA1):c.210A>G (p.Arg70=)
|
|
|
|
NM_002049.4(GATA1):c.211C>T (p.His71Tyr)
|
rs2147305769
|
|
|
NM_002049.4(GATA1):c.212A>C (p.His71Pro)
|
rs374300356
|
|
|
NM_002049.4(GATA1):c.212A>G (p.His71Arg)
|
rs374300356
|
|
|
NM_002049.4(GATA1):c.21del (p.Ser8fs)
|
rs1557020001
|
|
|
NM_002049.4(GATA1):c.220+13A>C
|
rs2147305801
|
|
|
NM_002049.4(GATA1):c.220+1G>A
|
rs1569499366
|
|
|
NM_002049.4(GATA1):c.220+1G>C
|
rs1569499366
|
|
|
NM_002049.4(GATA1):c.220+1G>T
|
|
|
|
NM_002049.4(GATA1):c.220+1del
|
rs587776453
|
|
|
NM_002049.4(GATA1):c.220+5C>T
|
|
|
|
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)
|
rs587776452
|
|
|
NM_002049.4(GATA1):c.221-20T>A
|
|
|
|
NM_002049.4(GATA1):c.221-3C>T
|
|
|
|
NM_002049.4(GATA1):c.224T>G (p.Phe75Cys)
|
|
|
|
NM_002049.4(GATA1):c.230T>G (p.Val77Gly)
|
rs2147306078
|
|
|
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)
|
rs2147306077
|
|
|
NM_002049.4(GATA1):c.234C>T (p.Tyr78=)
|
|
|
|
NM_002049.4(GATA1):c.242T>C (p.Leu81Pro)
|
rs1557020166
|
|
|
NM_002049.4(GATA1):c.251T>C (p.Met84Thr)
|
|
|
|
NM_002049.4(GATA1):c.253G>A (p.Glu85Lys)
|
|
|
|
NM_002049.4(GATA1):c.256G>A (p.Gly86Arg)
|
|
|
|
NM_002049.4(GATA1):c.258G>T (p.Gly86=)
|
|
|
|
NM_002049.4(GATA1):c.265G>A (p.Gly89Arg)
|
|
|
|
NM_002049.4(GATA1):c.276A>G (p.Pro92=)
|
|
|
|
NM_002049.4(GATA1):c.279T>C (p.Tyr93=)
|
|
|
|
NM_002049.4(GATA1):c.290C>T (p.Ala97Val)
|
rs2147306181
|
|
|
NM_002049.4(GATA1):c.291C>A (p.Ala97=)
|
|
|
|
NM_002049.4(GATA1):c.294C>T (p.Tyr98=)
|
|
|
|
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)
|
rs587776451
|
|
|
NM_002049.4(GATA1):c.300G>C (p.Lys100Asn)
|
|
|
|
NM_002049.4(GATA1):c.308T>C (p.Leu103Pro)
|
|
|
|
NM_002049.4(GATA1):c.322A>T (p.Thr108Ser)
|
|
|
|
NM_002049.4(GATA1):c.327G>A (p.Val109=)
|
|
|
|
NM_002049.4(GATA1):c.338G>A (p.Arg113His)
|
|
|
|
NM_002049.4(GATA1):c.338G>T (p.Arg113Leu)
|
rs782208453
|
|
|
NM_002049.4(GATA1):c.339C>T (p.Arg113=)
|
|
|
|
NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)
|
|
|
|
NM_002049.4(GATA1):c.345C>T (p.Asp115=)
|
|
|
|
NM_002049.4(GATA1):c.347C>G (p.Ser116Cys)
|
|
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
|
NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)
|
|
|
|
NM_002049.4(GATA1):c.372G>A (p.Leu124=)
|
|
|
|
NM_002049.4(GATA1):c.39G>A (p.Glu13=)
|
rs2147305570
|
|
|
NM_002049.4(GATA1):c.3G>T (p.Met1Ile)
|
rs2147305526
|
|
|
NM_002049.4(GATA1):c.413C>T (p.Thr138Ile)
|
rs2147306456
|
|
|
NM_002049.4(GATA1):c.416A>G (p.Glu139Gly)
|
|
|
|
NM_002049.4(GATA1):c.41C>A (p.Pro14His)
|
|
|
|
NM_002049.4(GATA1):c.41C>T (p.Pro14Leu)
|
|
|
|
NM_002049.4(GATA1):c.428C>T (p.Pro143Leu)
|
|
|
|
NM_002049.4(GATA1):c.432C>T (p.Asp144=)
|
|
|
|
NM_002049.4(GATA1):c.446G>A (p.Gly149Glu)
|
|
|
|
NM_002049.4(GATA1):c.480T>G (p.Asn160Lys)
|
rs143332634
|
|
|
NM_002049.4(GATA1):c.484G>A (p.Ala162Thr)
|
|
|
|
NM_002049.4(GATA1):c.48C>A (p.Pro16=)
|
|
|
|
NM_002049.4(GATA1):c.494G>A (p.Gly165Asp)
|
|
|
|
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)
|
rs2062673523
|
|
|
NM_002049.4(GATA1):c.507C>T (p.Ser169=)
|
|
|
|
NM_002049.4(GATA1):c.510T>G (p.Ser170Arg)
|
|
|
|
NM_002049.4(GATA1):c.51G>C (p.Gln17His)
|
|
|
|
NM_002049.4(GATA1):c.528C>T (p.Thr176=)
|
|
|
|
NM_002049.4(GATA1):c.529G>A (p.Gly177Arg)
|
rs1482381233
|
|
|
NM_002049.4(GATA1):c.548C>T (p.Ala183Val)
|
|
|
|
NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)
|
|
|
|
NM_002049.4(GATA1):c.561T>C (p.Ser187=)
|
rs2147306665
|
|
|
NM_002049.4(GATA1):c.572G>A (p.Arg191His)
|
|
|
|
NM_002049.4(GATA1):c.579T>C (p.Thr193=)
|
|
|
|
NM_002049.4(GATA1):c.580C>G (p.Leu194Val)
|
|
|
|
NM_002049.4(GATA1):c.595T>C (p.Cys199Arg)
|
rs782750237
|
|
|
NM_002049.4(GATA1):c.598+14A>T
|
|
|
|
NM_002049.4(GATA1):c.599-16_599-14del
|
rs782736246
|
|
|
NM_002049.4(GATA1):c.599A>C (p.Glu200Ala)
|
|
|
|
NM_002049.4(GATA1):c.5_8dup (p.Phe3fs)
|
rs1602218917
|
|
|
NM_002049.4(GATA1):c.618C>A (p.Asn206Lys)
|
|
|
|
NM_002049.4(GATA1):c.61C>T (p.Pro21Ser)
|
|
|
|
NM_002049.4(GATA1):c.622G>A (p.Gly208Arg)
|
rs587776454
|
|
|
NM_002049.4(GATA1):c.623G>C (p.Gly208Ala)
|
|
|
|
NM_002049.4(GATA1):c.658A>C (p.Thr220Pro)
|
|
|
|
NM_002049.4(GATA1):c.65C>G (p.Ala22Gly)
|
|
|
|
NM_002049.4(GATA1):c.670C>A (p.Leu224Ile)
|
|
|
|
NM_002049.4(GATA1):c.684C>T (p.Cys228=)
|
|
|
|
NM_002049.4(GATA1):c.68T>G (p.Leu23Arg)
|
|
|
|
NM_002049.4(GATA1):c.711G>A (p.Gln237=)
|
rs1204529779
|
|
|
NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
|
|
|
|
NM_002049.4(GATA1):c.725T>C (p.Ile242Thr)
|
|
|
|
NM_002049.4(GATA1):c.729G>A (p.Arg243=)
|
|
|
|
NM_002049.4(GATA1):c.734A>G (p.Lys245Arg)
|
|
|
|
NM_002049.4(GATA1):c.736A>C (p.Lys246Gln)
|
|
|
|
NM_002049.4(GATA1):c.737A>G (p.Lys246Arg)
|
|
|
|
NM_002049.4(GATA1):c.752_754delinsTT (p.Ser251fs)
|
rs1602220695
|
|
|
NM_002049.4(GATA1):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_002049.4(GATA1):c.766A>G (p.Thr256Ala)
|
|
|
|
NM_002049.4(GATA1):c.797C>T (p.Thr266Met)
|
|
|
|
NM_002049.4(GATA1):c.80C>T (p.Thr27Ile)
|
|
|
|
NM_002049.4(GATA1):c.821G>T (p.Ser274Ile)
|
|
|
|
NM_002049.4(GATA1):c.831C>T (p.Pro277=)
|
|
|
|
NM_002049.4(GATA1):c.832G>A (p.Val278Met)
|
|
|
|
NM_002049.4(GATA1):c.855C>T (p.Tyr285=)
|
|
|
|
NM_002049.4(GATA1):c.870+5C>T
|
|
|
|
NM_002049.4(GATA1):c.871-11C>T
|
|
|
|
NM_002049.4(GATA1):c.871-20C>T
|
|
|
|
NM_002049.4(GATA1):c.879G>A (p.Arg293=)
|
|
|
|
NM_002049.4(GATA1):c.882A>G (p.Pro294=)
|
|
|
|
NM_002049.4(GATA1):c.884T>C (p.Leu295Pro)
|
|
|
|
NM_002049.4(GATA1):c.892C>A (p.Arg298=)
|
|
|
|
NM_002049.4(GATA1):c.892C>T (p.Arg298Trp)
|
rs1060501251
|
|
|
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)
|
rs2147307511
|
|
|
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.911C>T (p.Thr304Ile)
|
|
|
|
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys)
|
rs1057518396
|
|
|
NM_002049.4(GATA1):c.920G>A (p.Arg307His)
|
rs1557020556
|
|
|
NM_002049.4(GATA1):c.93G>A (p.Gly31=)
|
|
|
|
NM_002049.4(GATA1):c.93G>T (p.Gly31=)
|
rs368193049
|
|
|
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)
|
rs782326935
|
|
|
NM_002049.4(GATA1):c.94dup (p.Val32fs)
|
rs1569499310
|
|
|
NM_002049.4(GATA1):c.962T>C (p.Leu321Pro)
|
|
|
|
NM_002049.4(GATA1):c.969C>G (p.Gly323=)
|
|
|
|
NM_002049.4(GATA1):c.971C>T (p.Thr324Ile)
|
|
|
|
NM_002049.4(GATA1):c.976G>A (p.Ala326Thr)
|
|
|
|
NM_002049.4(GATA1):c.98dup (p.Phe34fs)
|
rs2062673787
|
|
|
NM_002049.4(GATA1):c.992C>A (p.Ala331Asp)
|
|
|
|
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)
|
rs397507560
|
|
|
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln)
|
rs1554670417
|
|
|
NM_004629.2(FANCG):c.1002A>G (p.Leu334=)
|
rs984958735
|
|
|
NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter)
|
rs2131055405
|
|
|
NM_004629.2(FANCG):c.1008dup (p.Pro337fs)
|
rs1829086026
|
|
|
NM_004629.2(FANCG):c.1017T>A (p.His339Gln)
|
rs764465471
|
|
|
NM_004629.2(FANCG):c.1017T>C (p.His339=)
|
rs764465471
|
|
|
NM_004629.2(FANCG):c.1019G>A (p.Cys340Tyr)
|
rs2131055383
|
|
|
NM_004629.2(FANCG):c.1023C>T (p.Gly341=)
|
|
|
|
NM_004629.2(FANCG):c.1032C>A (p.Ser344Arg)
|
|
|
|
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)
|
rs2131055360
|
|
|
NM_004629.2(FANCG):c.1045A>T (p.Ile349Leu)
|
|
|
|
NM_004629.2(FANCG):c.105G>C (p.Leu35=)
|
|
|
|
NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter)
|
rs745928033
|
|
|
NM_004629.2(FANCG):c.1063C>T (p.Leu355=)
|
rs1829085262
|
|
|
NM_004629.2(FANCG):c.1065A>G (p.Leu355=)
|
|
|
|
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)
|
rs121434426
|
|
|
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
|
|
|
|
NM_004629.2(FANCG):c.1071G>A (p.Thr357=)
|
rs1829085044
|
|
|
NM_004629.2(FANCG):c.1074G>A (p.Gly358=)
|
rs749198217
|
|
|
NM_004629.2(FANCG):c.1076+15del
|
|
|
|
NM_004629.2(FANCG):c.1076+16C>T
|
|
|
|
NM_004629.2(FANCG):c.1076+4A>G
|
rs1829084813
|
|
|
NM_004629.2(FANCG):c.1076+9C>T
|
rs1245972880
|
|
|
NM_004629.2(FANCG):c.1077-13T>G
|
|
|
|
NM_004629.2(FANCG):c.1077-18T>C
|
|
|
|
NM_004629.2(FANCG):c.1077-7T>C
|
rs2131054765
|
|
|
NM_004629.2(FANCG):c.1077-8C>T
|
rs1563986100
|
|
|
NM_004629.2(FANCG):c.1077-9A>C
|
|
|
|
NM_004629.2(FANCG):c.107C>T (p.Thr36Ile)
|
rs1587144550
|
|
|
NM_004629.2(FANCG):c.1082G>A (p.Gly361Glu)
|
rs1276088946
|
|
|
NM_004629.2(FANCG):c.1087G>A (p.Ala363Thr)
|
|
|
|
NM_004629.2(FANCG):c.1091del (p.Ala364fs)
|
|
|
|
NM_004629.2(FANCG):c.10C>G (p.Gln4Glu)
|
rs1326382443
|
|
|
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)
|
rs1326382443
|
|
|
NM_004629.2(FANCG):c.1100A>C (p.Tyr367Ser)
|
|
|
|
NM_004629.2(FANCG):c.1113G>A (p.Leu371=)
|
rs1829075976
|
|
|
NM_004629.2(FANCG):c.1116C>G (p.Ala372=)
|
rs2131054695
|
|
|
NM_004629.2(FANCG):c.1116C>T (p.Ala372=)
|
|
|
|
NM_004629.2(FANCG):c.1122_1123delinsAT (p.Leu374_Leu375=)
|
|
|
|
NM_004629.2(FANCG):c.1123C>T (p.Leu375=)
|
rs1447583193
|
|
|
NM_004629.2(FANCG):c.1125G>A (p.Leu375=)
|
|
|
|
NM_004629.2(FANCG):c.1126G>T (p.Asp376Tyr)
|
rs1587140699
|
|
|
NM_004629.2(FANCG):c.1129A>G (p.Ser377Gly)
|
|
|
|
NM_004629.2(FANCG):c.1143+11C>G
|
|
|
|
NM_004629.2(FANCG):c.1143+15A>C
|
|
|
|
NM_004629.2(FANCG):c.1143+17G>A
|
|
|
|
NM_004629.2(FANCG):c.1143+17G>C
|
|
|
|
NM_004629.2(FANCG):c.1143+18C>T
|
|
|
|
NM_004629.2(FANCG):c.1143+4G>A
|
rs2131054635
|
|
|
NM_004629.2(FANCG):c.1143+5G>C
|
rs778328620
|
|
|
NM_004629.2(FANCG):c.1143+8T>C
|
rs2131054621
|
|
|
NM_004629.2(FANCG):c.1144-10C>T
|
rs1159181079
|
|
|
NM_004629.2(FANCG):c.1144-16C>G
|
|
|
|
NM_004629.2(FANCG):c.1144-18TTC[2]
|
|
|
|
NM_004629.2(FANCG):c.1144-19C>T
|
|
|
|
NM_004629.2(FANCG):c.1144-1G>A
|
|
|
|
NM_004629.2(FANCG):c.1144-2A>G
|
|
|
|
NM_004629.2(FANCG):c.1144-3C>T
|
|
|
|
NM_004629.2(FANCG):c.1144-5T>C
|
|
|
|
NM_004629.2(FANCG):c.1144-6C>T
|
|
|
|
NM_004629.2(FANCG):c.1144-7_1144-6delinsTT
|
rs2131054350
|
|
|
NM_004629.2(FANCG):c.1144-8C>T
|
|
|
|
NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr)
|
rs1288516919
|
|
|
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala)
|
rs1288516919
|
|
|
NM_004629.2(FANCG):c.1155_1163del (p.Ser387_Pro389del)
|
rs1554670228
|
|
|
NM_004629.2(FANCG):c.1156C>A (p.Pro386Thr)
|
|
|
|
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
|
rs141147618
|
|
|
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)
|
rs141147618
|
|
|
NM_004629.2(FANCG):c.1158C>T (p.Pro386=)
|
rs201041980
|
|
|
NM_004629.2(FANCG):c.1158del (p.Ser387fs)
|
rs757418016
|
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
|
NM_004629.2(FANCG):c.115C>A (p.Arg39=)
|
|
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
|
NM_004629.2(FANCG):c.1161_1163dup (p.Pro389_Gly390insPro)
|
|
|
|
NM_004629.2(FANCG):c.1167_1168del (p.Gly390fs)
|
|
|
|
NM_004629.2(FANCG):c.1173C>G (p.Pro391=)
|
|
|
|
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)
|
rs397507559
|
|
|
NM_004629.2(FANCG):c.1192T>C (p.Leu398=)
|
|
|
|
NM_004629.2(FANCG):c.1197G>A (p.Glu399=)
|
rs745472311
|
|
|
NM_004629.2(FANCG):c.1199C>T (p.Ala400Val)
|
|
|
|
NM_004629.2(FANCG):c.119A>C (p.Gln40Pro)
|
|
|
|
NM_004629.2(FANCG):c.1209A>G (p.Ala403=)
|
|
|
|
NM_004629.2(FANCG):c.1209A>T (p.Ala403=)
|
|
|
|
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.1228G>A (p.Ala410Thr)
|
rs1829068737
|
|
|
NM_004629.2(FANCG):c.1236T>C (p.Asp412=)
|
|
|
|
NM_004629.2(FANCG):c.1239C>T (p.Ala413=)
|
rs2131054090
|
|
|
NM_004629.2(FANCG):c.123G>A (p.Gln41=)
|
rs1319799772
|
|
|
NM_004629.2(FANCG):c.123G>C (p.Gln41His)
|
|
|
|
NM_004629.2(FANCG):c.1240T>C (p.Leu414=)
|
|
|
|
NM_004629.2(FANCG):c.1246C>T (p.Leu416=)
|
|
|
|
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.1266C>T (p.Ser422=)
|
|
|
|
NM_004629.2(FANCG):c.1269C>T (p.Arg423=)
|
rs753829462
|
|
|
NM_004629.2(FANCG):c.1272A>G (p.Thr424=)
|
rs2131054017
|
|
|
NM_004629.2(FANCG):c.1277C>G (p.Ser426Cys)
|
|
|
|
NM_004629.2(FANCG):c.1279C>T (p.Leu427=)
|
rs760537318
|
|
|
NM_004629.2(FANCG):c.1282C>T (p.Leu428=)
|
rs2131053992
|
|
|
NM_004629.2(FANCG):c.1292T>C (p.Met431Thr)
|
|
|
|
NM_004629.2(FANCG):c.129T>A (p.Ala43=)
|
|
|
|
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)
|
rs2131053943
|
|
|
NM_004629.2(FANCG):c.1326C>T (p.Thr442=)
|
rs2131053924
|
|
|
NM_004629.2(FANCG):c.132G>A (p.Gln44=)
|
rs771581491
|
|
|
NM_004629.2(FANCG):c.1333C>T (p.Leu445=)
|
|
|
|
NM_004629.2(FANCG):c.1338A>T (p.Pro446=)
|
rs758656355
|
|
|
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
|
|
|
|
NM_004629.2(FANCG):c.1350C>G (p.Leu450=)
|
|
|
|
NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)
|
|
|
|
NM_004629.2(FANCG):c.1356C>T (p.Val452=)
|
rs2131053861
|
|
|
NM_004629.2(FANCG):c.1365C>A (p.Thr455=)
|
rs767385265
|
|
|
NM_004629.2(FANCG):c.1365C>T (p.Thr455=)
|
rs767385265
|
|
|
NM_004629.2(FANCG):c.1377G>A (p.Gln459=)
|
rs1587140019
|
|
|
NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)
|
|
|
|
NM_004629.2(FANCG):c.1386C>G (p.Ala462=)
|
|
|
|
NM_004629.2(FANCG):c.138A>C (p.Ala46=)
|
rs1829139114
|
|
|
NM_004629.2(FANCG):c.1392T>C (p.Val464=)
|
|
|
|
NM_004629.2(FANCG):c.1395A>G (p.Gln465=)
|
|
|
|
NM_004629.2(FANCG):c.139C>T (p.Leu47=)
|
|
|
|
NM_004629.2(FANCG):c.1400G>A (p.Gly467Asp)
|
|
|
|
NM_004629.2(FANCG):c.1403C>T (p.Ala468Val)
|
rs1829065605
|
|
|
NM_004629.2(FANCG):c.1408A>G (p.Lys470Glu)
|
|
|
|
NM_004629.2(FANCG):c.1410A>G (p.Lys470=)
|
rs2131053755
|
|
|
NM_004629.2(FANCG):c.1416A>G (p.Ala472=)
|
rs1587139991
|
|
|
NM_004629.2(FANCG):c.1416A>T (p.Ala472=)
|
rs1587139991
|
|
|
NM_004629.2(FANCG):c.1428del (p.Phe476fs)
|
|
|
|
NM_004629.2(FANCG):c.1433+10G>A
|
|
|
|
NM_004629.2(FANCG):c.1433+1G>A
|
rs1829065047
|
|
|
NM_004629.2(FANCG):c.1433+5G>T
|
|
|
|
NM_004629.2(FANCG):c.1434-10C>T
|
|
|
|
NM_004629.2(FANCG):c.1434-14_1434-5del
|
|
|
|
NM_004629.2(FANCG):c.1434-16C>T
|
|
|
|
NM_004629.2(FANCG):c.1434-19G>A
|
|
|
|
NM_004629.2(FANCG):c.1434-1G>C
|
|
|
|
NM_004629.2(FANCG):c.1434-2A>C
|
rs1829062071
|
|
|
NM_004629.2(FANCG):c.1434-7A>G
|
|
|
|
NM_004629.2(FANCG):c.1437C>G (p.Cys479Trp)
|
rs904322133
|
|
|
NM_004629.2(FANCG):c.1440C>G (p.Leu480=)
|
|
|
|
NM_004629.2(FANCG):c.1440C>T (p.Leu480=)
|
rs776146510
|
|
|
NM_004629.2(FANCG):c.1441G>A (p.Glu481Lys)
|
|
|
|
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro)
|
rs1829061760
|
|
|
NM_004629.2(FANCG):c.1460C>T (p.Thr487Ile)
|
rs2131053434
|
|
|
NM_004629.2(FANCG):c.1462C>T (p.Pro488Ser)
|
|
|
|
NM_004629.2(FANCG):c.1464T>G (p.Pro488=)
|
|
|
|
NM_004629.2(FANCG):c.1472_1473del (p.Lys491fs)
|
|
|
|
NM_004629.2(FANCG):c.1473del (p.Glu492fs)
|
|
|
|
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln)
|
rs1018027137
|
|
|
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
|
|
|
|
NM_004629.2(FANCG):c.1480+11C>T
|
|
|
|
NM_004629.2(FANCG):c.1480+14T>C
|
|
|
|
NM_004629.2(FANCG):c.1480+15C>G
|
|
|
|
NM_004629.2(FANCG):c.1480+15C>T
|
|
|
|
NM_004629.2(FANCG):c.1480+5T>C
|
rs1554670176
|
|
|
NM_004629.2(FANCG):c.1480+5T>G
|
rs1554670176
|
|
|
NM_004629.2(FANCG):c.1481-11G>C
|
|
|
|
NM_004629.2(FANCG):c.1481-16T>C
|
|
|
|
NM_004629.2(FANCG):c.1481-18T>C
|
|
|
|
NM_004629.2(FANCG):c.1481-18T>G
|
|
|
|
NM_004629.2(FANCG):c.1481-1G>C
|
rs2131053141
|
|
|
NM_004629.2(FANCG):c.1481G>T (p.Gly494Val)
|
rs770011456
|
|
|
NM_004629.2(FANCG):c.1482G>C (p.Gly494=)
|
rs1196684565
|
|
|
NM_004629.2(FANCG):c.1483del
|
rs760738460
|
|
|
NM_004629.2(FANCG):c.1495T>G (p.Cys499Gly)
|
|
|
|
NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)
|
|
|
|
NM_004629.2(FANCG):c.1498G>A (p.Glu500Lys)
|
|
|
|
NM_004629.2(FANCG):c.1500G>A (p.Glu500=)
|
rs1045640267
|
|
|
NM_004629.2(FANCG):c.1503G>A (p.Gln501=)
|
|
|
|
NM_004629.2(FANCG):c.1505G>T (p.Gly502Val)
|
|
|
|
NM_004629.2(FANCG):c.1506A>T (p.Gly502=)
|
|
|
|
NM_004629.2(FANCG):c.150C>G (p.Leu50=)
|
|
|
|
NM_004629.2(FANCG):c.1512G>A (p.Lys504=)
|
rs746983204
|
|
|
NM_004629.2(FANCG):c.1518T>C (p.Asp506=)
|
|
|
|
NM_004629.2(FANCG):c.1519G>T (p.Ala507Ser)
|
|
|
|
NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)
|
|
|
|
NM_004629.2(FANCG):c.1521G>C (p.Ala507=)
|
|
|
|
NM_004629.2(FANCG):c.1525C>T (p.Leu509=)
|
|
|
|
NM_004629.2(FANCG):c.1530G>A (p.Gln510=)
|
rs2131053024
|
|
|
NM_004629.2(FANCG):c.153A>G (p.Arg51=)
|
|
|
|
NM_004629.2(FANCG):c.1542A>G (p.Ala514=)
|
rs2131052991
|
|
|
NM_004629.2(FANCG):c.1546G>A (p.Ala516Thr)
|
|
|
|
NM_004629.2(FANCG):c.1548C>T (p.Ala516=)
|
|
|
|
NM_004629.2(FANCG):c.1560T>C (p.Arg520=)
|
|
|
|
NM_004629.2(FANCG):c.156G>A (p.Gly52=)
|
|
|
|
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.1582G>A (p.Gly528Ser)
|
|
|
|
NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter)
|
rs1157985962
|
|
|
NM_004629.2(FANCG):c.1586A>G (p.Gln529Arg)
|
|
|
|
NM_004629.2(FANCG):c.1592C>T (p.Thr531Ile)
|
|
|
|
NM_004629.2(FANCG):c.1593del (p.Ala533fs)
|
rs761519737
|
|
|
NM_004629.2(FANCG):c.159C>T (p.Leu53=)
|
|
|
|
NM_004629.2(FANCG):c.15C>G (p.Thr5=)
|
rs748963569
|
|
|
NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)
|
|
|
|
NM_004629.2(FANCG):c.1604dup (p.Asp536fs)
|
|
|
|
NM_004629.2(FANCG):c.1614C>T (p.Leu538=)
|
rs1189580729
|
|
|
NM_004629.2(FANCG):c.161dup (p.His55fs)
|
rs886063898
|
|
|
NM_004629.2(FANCG):c.1620T>C (p.Ser540=)
|
|
|
|
NM_004629.2(FANCG):c.1633C>G (p.Pro545Ala)
|
rs1315654777
|
|
|
NM_004629.2(FANCG):c.1635A>G (p.Pro545=)
|
|
|
|
NM_004629.2(FANCG):c.1636+10C>G
|
rs1291672216
|
|
|
NM_004629.2(FANCG):c.1636+13G>A
|
|
|
|
NM_004629.2(FANCG):c.1636+13dup
|
|
|
|
NM_004629.2(FANCG):c.1636+14C>T
|
|
|
|
NM_004629.2(FANCG):c.1636+15A>G
|
|
|
|
NM_004629.2(FANCG):c.1636+19C>T
|
|
|
|
NM_004629.2(FANCG):c.1636+1_1636+5delinsA
|
rs1829054259
|
|
|
NM_004629.2(FANCG):c.1636+5G>A
|
rs748961871
|
|
|
NM_004629.2(FANCG):c.1636+7_1636+8delinsGA
|
|
|
|
NM_004629.2(FANCG):c.1637-13G>A
|
|
|
|
NM_004629.2(FANCG):c.1637-18T>A
|
rs1829043715
|
|
|
NM_004629.2(FANCG):c.1637-1G>A
|
|
|
|
NM_004629.2(FANCG):c.1637-2A>G
|
|
|
|
NM_004629.2(FANCG):c.1637-2_1637-1insCTG
|
rs2131051989
|
|
|
NM_004629.2(FANCG):c.1637-5T>C
|
|
|
|
NM_004629.2(FANCG):c.1637-7G>A
|
|
|
|
NM_004629.2(FANCG):c.1642C>G (p.Arg548Gly)
|
|
|
|
NM_004629.2(FANCG):c.1648A>G (p.Thr550Ala)
|
rs1255677446
|
|
|
NM_004629.2(FANCG):c.1651T>C (p.Tyr551His)
|
|
|
|
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.1656T>C (p.Phe552=)
|
|
|
|
NM_004629.2(FANCG):c.1665T>G (p.Leu555=)
|
rs2131051914
|
|
|
NM_004629.2(FANCG):c.1668G>T (p.Gln556His)
|
rs1829042320
|
|
|
NM_004629.2(FANCG):c.1671T>G (p.Thr557=)
|
|
|
|
NM_004629.2(FANCG):c.1680G>A (p.Arg560=)
|
|
|
|
NM_004629.2(FANCG):c.1683A>G (p.Leu561=)
|
|
|
|
NM_004629.2(FANCG):c.1687C>A (p.Arg563=)
|
rs754258080
|
|
|
NM_004629.2(FANCG):c.1689G>C (p.Arg563=)
|
rs138855718
|
|
|
NM_004629.2(FANCG):c.168T>C (p.Ser56=)
|
rs2131059736
|
|
|
NM_004629.2(FANCG):c.1692G>A (p.Arg564=)
|
|
|
|
NM_004629.2(FANCG):c.1708C>T (p.Leu570Phe)
|
|
|
|
NM_004629.2(FANCG):c.1710C>G (p.Leu570=)
|
|
|
|
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)
|
rs1829041127
|
|
|
NM_004629.2(FANCG):c.1717A>C (p.Arg573=)
|
rs2131051789
|
|
|
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met)
|
rs200466062
|
|
|
NM_004629.2(FANCG):c.171G>C (p.Leu57=)
|
rs2131059726
|
|
|
NM_004629.2(FANCG):c.1727C>T (p.Ala576Val)
|
|
|
|
NM_004629.2(FANCG):c.1740G>A (p.Gly580=)
|
rs773083883
|
|
|
NM_004629.2(FANCG):c.1745A>G (p.His582Arg)
|
rs1196002404
|
|
|
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter)
|
rs786204205
|
|
|
NM_004629.2(FANCG):c.175+13T>A
|
|
|
|
NM_004629.2(FANCG):c.175+15C>T
|
|
|
|
NM_004629.2(FANCG):c.175+16C>G
|
|
|
|
NM_004629.2(FANCG):c.175+16C>T
|
|
|
|
NM_004629.2(FANCG):c.175+16_175+17del
|
|
|
|
NM_004629.2(FANCG):c.175+4G>C
|
rs1060501869
|
|
|
NM_004629.2(FANCG):c.175+7G>T
|
|
|
|
NM_004629.2(FANCG):c.175+9G>A
|
|
|
|
NM_004629.2(FANCG):c.1752T>C (p.Asp584=)
|
|
|
|
NM_004629.2(FANCG):c.1755T>C (p.Ala585=)
|
|
|
|
NM_004629.2(FANCG):c.176-14C>T
|
rs1829131097
|
|
|
NM_004629.2(FANCG):c.176-18C>G
|
|
|
|
NM_004629.2(FANCG):c.176-1G>A
|
rs2131059176
|
|
|
NM_004629.2(FANCG):c.176-20G>A
|
|
|
|
NM_004629.2(FANCG):c.1760+14C>T
|
|
|
|
NM_004629.2(FANCG):c.1760+4A>T
|
|
|
|
NM_004629.2(FANCG):c.1760+7C>T
|
|
|
|
NM_004629.2(FANCG):c.1760+9C>G
|
|
|
|
NM_004629.2(FANCG):c.1760+9C>T
|
|
|
|
NM_004629.2(FANCG):c.1761-10T>C
|
rs1363368892
|
|
|
NM_004629.2(FANCG):c.1761-19C>T
|
|
|
|
NM_004629.2(FANCG):c.1761-8C>T
|
rs1179718076
|
|
|
NM_004629.2(FANCG):c.1767C>T (p.Leu589=)
|
rs1060504369
|
|
|
NM_004629.2(FANCG):c.1770C>A (p.Pro590=)
|
|
|
|
NM_004629.2(FANCG):c.1770C>G (p.Pro590=)
|
rs1563984984
|
|
|
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
|
|
|
|
NM_004629.2(FANCG):c.1774T>C (p.Tyr592His)
|
rs768325047
|
|
|
NM_004629.2(FANCG):c.1779A>G (p.Leu593=)
|
rs2131051289
|
|
|
NM_004629.2(FANCG):c.177G>A (p.Gly59=)
|
rs1554670511
|
|
|
NM_004629.2(FANCG):c.177G>T (p.Gly59=)
|
|
|
|
NM_004629.2(FANCG):c.1782A>C (p.Glu594Asp)
|
|
|
|
NM_004629.2(FANCG):c.1785C>G (p.Ser595Arg)
|
|
|
|
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe)
|
rs1026058105
|
|
|
NM_004629.2(FANCG):c.1793G>A (p.Ser598Asn)
|
|
|
|
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
|
|
|
|
NM_004629.2(FANCG):c.1800C>T (p.Ile600=)
|
rs2131051244
|
|
|
NM_004629.2(FANCG):c.1804C>T (p.Pro602Ser)
|
|
|
|
NM_004629.2(FANCG):c.1810G>C (p.Asp604His)
|
|
|
|
NM_004629.2(FANCG):c.1820C>A (p.Ala607Asp)
|
|
|
|
NM_004629.2(FANCG):c.1825del (p.Glu610fs)
|
|
|
|
NM_004629.2(FANCG):c.182del (p.Pro61fs)
|
|
|
|
NM_004629.2(FANCG):c.1837C>T (p.Arg613Trp)
|
|
|
|
NM_004629.2(FANCG):c.1846C>T (p.Leu616=)
|
|
|
|
NM_004629.2(FANCG):c.1851A>G (p.Pro617=)
|
rs2131051090
|
|
|
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)
|
rs532302967
|
|
|
NM_004629.2(FANCG):c.1863C>T (p.Asp621=)
|
|
|
|
NM_004629.2(FANCG):c.1864C>T (p.Leu622=)
|
|
|
|
NM_004629.2(FANCG):c.193C>T (p.Pro65Ser)
|
rs2131059151
|
|
|
NM_004629.2(FANCG):c.204C>T (p.Pro68=)
|
|
|
|
NM_004629.2(FANCG):c.210G>A (p.Glu70=)
|
|
|
|
NM_004629.2(FANCG):c.213G>A (p.Leu71=)
|
|
|
|
NM_004629.2(FANCG):c.214_217del (p.Thr72fs)
|
rs747660501
|
|
|
NM_004629.2(FANCG):c.21T>C (p.Ser7=)
|
rs747679533
|
|
|
NM_004629.2(FANCG):c.21T>G (p.Ser7=)
|
rs747679533
|
|
|
NM_004629.2(FANCG):c.21dup (p.Val8fs)
|
|
|
|
NM_004629.2(FANCG):c.228C>T (p.Asn76=)
|
|
|
|
NM_004629.2(FANCG):c.237C>A (p.Ile79=)
|
rs2131059090
|
|
|
NM_004629.2(FANCG):c.240G>A (p.Leu80=)
|
rs1221719766
|
|
|
NM_004629.2(FANCG):c.243G>A (p.Arg81=)
|
|
|
|
NM_004629.2(FANCG):c.244G>A (p.Ala82Thr)
|
|
|
|
NM_004629.2(FANCG):c.24G>T (p.Val8=)
|
rs2131060404
|
|
|
NM_004629.2(FANCG):c.255C>T (p.Ala85=)
|
rs2131059041
|
|
|
NM_004629.2(FANCG):c.261T>C (p.Gly87=)
|
rs2131059036
|
|
|
NM_004629.2(FANCG):c.263T>G (p.Phe88Cys)
|
|
|
|
NM_004629.2(FANCG):c.273T>C (p.Asp91=)
|
rs2131059024
|
|
|
NM_004629.2(FANCG):c.276G>A (p.Gln92=)
|
rs752352160
|
|
|
NM_004629.2(FANCG):c.279C>T (p.Ala93=)
|
rs2131059010
|
|
|
NM_004629.2(FANCG):c.285T>C (p.Asp95=)
|
|
|
|
NM_004629.2(FANCG):c.292C>A (p.Arg98=)
|
rs532525154
|
|
|
NM_004629.2(FANCG):c.293G>T (p.Arg98Leu)
|
rs372854981
|
|
|
NM_004629.2(FANCG):c.294G>A (p.Arg98=)
|
|
|
|
NM_004629.2(FANCG):c.297C>T (p.Ser99=)
|
rs770190553
|
|
|
NM_004629.2(FANCG):c.300A>G (p.Leu100=)
|
|
|
|
NM_004629.2(FANCG):c.303G>A (p.Glu101=)
|
|
|
|
NM_004629.2(FANCG):c.307+11G>A
|
|
|
|
NM_004629.2(FANCG):c.307+15T>C
|
|
|
|
NM_004629.2(FANCG):c.307+18T>A
|
|
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
|
NM_004629.2(FANCG):c.307+20C>T
|
|
|
|
NM_004629.2(FANCG):c.307+7G>A
|
rs768958840
|
|
|
NM_004629.2(FANCG):c.308-11A>C
|
|
|
|
NM_004629.2(FANCG):c.308-11A>T
|
|
|
|
NM_004629.2(FANCG):c.308-12T>G
|
|
|
|
NM_004629.2(FANCG):c.308-15G>A
|
|
|
|
NM_004629.2(FANCG):c.308-17G>A
|
|
|
|
NM_004629.2(FANCG):c.308-1G>A
|
|
|
|
NM_004629.2(FANCG):c.308-21GT[6]
|
rs756482885
|
|
|
NM_004629.2(FANCG):c.308-4A>G
|
|
|
|
NM_004629.2(FANCG):c.308-6C>T
|
rs2131058643
|
|
|
NM_004629.2(FANCG):c.310C>T (p.Leu104=)
|
rs1829123908
|
|
|
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
|
|
|
|
NM_004629.2(FANCG):c.321G>A (p.Gln107=)
|
rs1829123663
|
|
|
NM_004629.2(FANCG):c.322G>A (p.Glu108Lys)
|
|
|
|
NM_004629.2(FANCG):c.333G>A (p.Gly111=)
|
rs1060504370
|
|
|
NM_004629.2(FANCG):c.335_352del (p.Pro112_Gly117del)
|
|
|
|
NM_004629.2(FANCG):c.336del (p.Arg113fs)
|
rs2131058595
|
|
|
NM_004629.2(FANCG):c.33C>T (p.Ser11=)
|
|
|
|
NM_004629.2(FANCG):c.345A>G (p.Glu115=)
|
rs1213271836
|
|
|
NM_004629.2(FANCG):c.351G>A (p.Gly117=)
|
|
|
|
NM_004629.2(FANCG):c.355A>C (p.Arg119=)
|
|
|
|
NM_004629.2(FANCG):c.360G>A (p.Glu120=)
|
|
|
|
NM_004629.2(FANCG):c.363G>C (p.Leu121=)
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|
|
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter)
|
rs2131058553
|
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|
NM_004629.2(FANCG):c.375C>A (p.Val125=)
|
rs199754122
|
|
|
NM_004629.2(FANCG):c.380_386dup (p.Leu131fs)
|
|
|
|
NM_004629.2(FANCG):c.384T>A (p.Ala128=)
|
rs2131058508
|
|
|
NM_004629.2(FANCG):c.395dup (p.Pro133fs)
|
rs2131058481
|
|
|
NM_004629.2(FANCG):c.396G>A (p.Leu132=)
|
|
|
|
NM_004629.2(FANCG):c.39G>T (p.Leu13=)
|
rs758976992
|
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|
NM_004629.2(FANCG):c.403C>A (p.Leu135Met)
|
|
|
|
NM_004629.2(FANCG):c.405G>A (p.Leu135=)
|
rs1251066873
|
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|
NM_004629.2(FANCG):c.405G>T (p.Leu135=)
|
|
|
|
NM_004629.2(FANCG):c.410C>G (p.Ser137Cys)
|
rs1203036492
|
|
|
NM_004629.2(FANCG):c.412G>C (p.Ala138Pro)
|
|
|
|
NM_004629.2(FANCG):c.415C>T (p.Leu139=)
|
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|
NM_004629.2(FANCG):c.420C>A (p.His140Gln)
|
|
|
|
NM_004629.2(FANCG):c.420C>T (p.His140=)
|
rs764566651
|
|
|
NM_004629.2(FANCG):c.426G>C (p.Leu142=)
|
|
|
|
NM_004629.2(FANCG):c.429T>C (p.Val143=)
|
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|
|
NM_004629.2(FANCG):c.431G>C (p.Gly144Ala)
|
rs767880403
|
|
|
NM_004629.2(FANCG):c.432C>T (p.Gly144=)
|
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|
NM_004629.2(FANCG):c.433C>T (p.Leu145=)
|
|
|
|
NM_004629.2(FANCG):c.443C>T (p.Ala148Val)
|
rs1829121038
|
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|
NM_004629.2(FANCG):c.447C>G (p.Leu149=)
|
|
|
|
NM_004629.2(FANCG):c.448T>C (p.Trp150Arg)
|
rs202114813
|
|
|
NM_004629.2(FANCG):c.45G>C (p.Leu15=)
|
rs750918728
|
|
|
NM_004629.2(FANCG):c.468T>C (p.Leu156=)
|
rs2131058320
|
|
|
NM_004629.2(FANCG):c.480C>T (p.Ala160=)
|
rs746680732
|
|
|
NM_004629.2(FANCG):c.486A>T (p.Leu162Phe)
|
rs779677132
|
|
|
NM_004629.2(FANCG):c.487C>T (p.Leu163=)
|
|
|
|
NM_004629.2(FANCG):c.495C>T (p.Thr165=)
|
rs1829120053
|
|
|
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
|
|
|
|
NM_004629.2(FANCG):c.501T>C (p.Asn167=)
|
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|
NM_004629.2(FANCG):c.510+12del
|
|
|
|
NM_004629.2(FANCG):c.510+14T>A
|
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|
NM_004629.2(FANCG):c.510+16_510+17del
|
|
|
|
NM_004629.2(FANCG):c.510+17C>T
|
|
|
|
NM_004629.2(FANCG):c.510+5T>C
|
rs921564097
|
|
|
NM_004629.2(FANCG):c.510+7G>C
|
rs1304686615
|
|
|
NM_004629.2(FANCG):c.511-10_511-8del
|
rs1384885358
|
|
|
NM_004629.2(FANCG):c.511-11T>C
|
rs2131057321
|
|
|
NM_004629.2(FANCG):c.511-3_511-2del
|
rs1491369358
|
|
|
NM_004629.2(FANCG):c.511-4C>T
|
|
|
|
NM_004629.2(FANCG):c.511-5C>G
|
|
|
|
NM_004629.2(FANCG):c.511-5C>T
|
|
|
|
NM_004629.2(FANCG):c.511-6C>T
|
rs1244108459
|
|
|
NM_004629.2(FANCG):c.511-6dup
|
rs376732298
|
|
|
NM_004629.2(FANCG):c.517G>A (p.Ala173Thr)
|
|
|
|
NM_004629.2(FANCG):c.519C>G (p.Ala173=)
|
rs2131057288
|
|
|
NM_004629.2(FANCG):c.51G>A (p.Arg17=)
|
rs2131060330
|
|
|
NM_004629.2(FANCG):c.525G>C (p.Lys175Asn)
|
|
|
|
NM_004629.2(FANCG):c.529C>T (p.Leu177=)
|
rs1056307632
|
|
|
NM_004629.2(FANCG):c.52G>A (p.Glu18Lys)
|
rs1829144761
|
|
|
NM_004629.2(FANCG):c.534G>C (p.Leu178=)
|
rs2131057260
|
|
|
NM_004629.2(FANCG):c.542_556del (p.Leu181_Ser185del)
|
|
|
|
NM_004629.2(FANCG):c.54A>C (p.Glu18Asp)
|
rs1563987701
|
|
|
NM_004629.2(FANCG):c.54A>G (p.Glu18=)
|
|
|
|
NM_004629.2(FANCG):c.552dup (p.Ser185fs)
|
rs1412207017
|
|
|
NM_004629.2(FANCG):c.558C>G (p.Pro186=)
|
rs1554670415
|
|
|
NM_004629.2(FANCG):c.560C>A (p.Pro187Gln)
|
|
|
|
NM_004629.2(FANCG):c.560del (p.Pro187fs)
|
rs2131057213
|
|
|
NM_004629.2(FANCG):c.563C>T (p.Ala188Val)
|
|
|
|
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter)
|
rs1829104194
|
|
|
NM_004629.2(FANCG):c.572T>C (p.Leu191Ser)
|
|
|
|
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)
|
rs755361015
|
|
|
NM_004629.2(FANCG):c.580C>T (p.Pro194Ser)
|
rs1554670412
|
|
|
NM_004629.2(FANCG):c.582A>G (p.Pro194=)
|
|
|
|
NM_004629.2(FANCG):c.587C>T (p.Thr196Ile)
|
|
|
|
NM_004629.2(FANCG):c.591G>A (p.Leu197=)
|
|
|
|
NM_004629.2(FANCG):c.591G>T (p.Leu197=)
|
rs2131057157
|
|
|
NM_004629.2(FANCG):c.595G>A (p.Asp199Asn)
|
|
|
|
NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)
|
|
|
|
NM_004629.2(FANCG):c.603G>A (p.Gln201=)
|
rs2131057141
|
|
|
NM_004629.2(FANCG):c.604G>T (p.Gly202Ter)
|
rs1449918930
|
|
|
NM_004629.2(FANCG):c.612G>A (p.Lys204=)
|
|
|
|
NM_004629.2(FANCG):c.618C>T (p.Val206=)
|
rs1587142434
|
|
|
NM_004629.2(FANCG):c.620del (p.Leu207fs)
|
rs753727461
|
|
|
NM_004629.2(FANCG):c.622C>T (p.Leu208=)
|
rs1587142420
|
|
|
NM_004629.2(FANCG):c.626C>T (p.Thr209Ile)
|
rs1382724792
|
|
|
NM_004629.2(FANCG):c.633T>A (p.Phe211Leu)
|
|
|
|
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)
|
rs587776640
|
|
|
NM_004629.2(FANCG):c.63C>A (p.Asp21Glu)
|
|
|
|
NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)
|
|
|
|
NM_004629.2(FANCG):c.646+18C>T
|
|
|
|
NM_004629.2(FANCG):c.646+1G>T
|
rs1028569753
|
|
|
NM_004629.2(FANCG):c.646+8A>G
|
rs2131057022
|
|
|
NM_004629.2(FANCG):c.646+9G>C
|
|
|
|
NM_004629.2(FANCG):c.647-15C>G
|
|
|
|
NM_004629.2(FANCG):c.647-18C>T
|
|
|
|
NM_004629.2(FANCG):c.647-2_649del
|
rs2131056701
|
|
|
NM_004629.2(FANCG):c.647-3C>T
|
rs1311964497
|
|
|
NM_004629.2(FANCG):c.647-4T>G
|
rs1436051790
|
|
|
NM_004629.2(FANCG):c.64C>A (p.Arg22=)
|
|
|
|
NM_004629.2(FANCG):c.64C>T (p.Arg22Trp)
|
|
|
|
NM_004629.2(FANCG):c.65G>A (p.Arg22Gln)
|
rs1829144428
|
|
|
NM_004629.2(FANCG):c.662T>A (p.Ile221Asn)
|
rs1829099355
|
|
|
NM_004629.2(FANCG):c.665C>T (p.Thr222Ile)
|
|
|
|
NM_004629.2(FANCG):c.666A>G (p.Thr222=)
|
|
|
|
NM_004629.2(FANCG):c.669G>A (p.Gly223=)
|
rs143230416
|
|
|
NM_004629.2(FANCG):c.672C>T (p.Asn224=)
|
rs774051315
|
|
|
NM_004629.2(FANCG):c.684A>G (p.Ala228=)
|
|
|
|
NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)
|
|
|
|
NM_004629.2(FANCG):c.685C>T (p.Leu229=)
|
rs2131056622
|
|
|
NM_004629.2(FANCG):c.689del (p.Ser230fs)
|
rs2131056614
|
|
|
NM_004629.2(FANCG):c.690C>A (p.Ser230Arg)
|
rs1333976481
|
|
|
NM_004629.2(FANCG):c.690C>T (p.Ser230=)
|
|
|
|
NM_004629.2(FANCG):c.692del (p.Ser231fs)
|
|
|
|
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
|
|
|
|
NM_004629.2(FANCG):c.699T>C (p.His233=)
|
|
|
|
NM_004629.2(FANCG):c.69C>T (p.Leu23=)
|
|
|
|
NM_004629.2(FANCG):c.702A>G (p.Glu234=)
|
|
|
|
NM_004629.2(FANCG):c.70G>C (p.Val24Leu)
|
|
|
|
NM_004629.2(FANCG):c.713dup (p.Leu239fs)
|
rs2131056549
|
|
|
NM_004629.2(FANCG):c.714C>A (p.Gly238=)
|
rs1185716009
|
|
|
NM_004629.2(FANCG):c.714C>G (p.Gly238=)
|
|
|
|
NM_004629.2(FANCG):c.714C>T (p.Gly238=)
|
|
|
|
NM_004629.2(FANCG):c.717G>A (p.Leu239=)
|
rs1350532745
|
|
|
NM_004629.2(FANCG):c.717G>C (p.Leu239=)
|
|
|
|
NM_004629.2(FANCG):c.725G>A (p.Arg242Gln)
|
|
|
|
NM_004629.2(FANCG):c.729T>G (p.Pro243=)
|
rs199736443
|
|
|
NM_004629.2(FANCG):c.732G>T (p.Val244=)
|
|
|
|
NM_004629.2(FANCG):c.738C>A (p.Val246=)
|
|
|
|
NM_004629.2(FANCG):c.73C>A (p.Arg25=)
|
|
|
|
NM_004629.2(FANCG):c.743T>C (p.Val248Ala)
|
rs1221668009
|
|
|
NM_004629.2(FANCG):c.744G>A (p.Val248=)
|
rs1351998495
|
|
|
NM_004629.2(FANCG):c.763T>C (p.Cys255Arg)
|
|
|
|
NM_004629.2(FANCG):c.764G>A (p.Cys255Tyr)
|
|
|
|
NM_004629.2(FANCG):c.768C>T (p.His256=)
|
|
|
|
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)
|
rs759314410
|
|
|
NM_004629.2(FANCG):c.76C>T (p.Gln26Ter)
|
rs2131060266
|
|
|
NM_004629.2(FANCG):c.777+10G>A
|
rs374991414
|
|
|
NM_004629.2(FANCG):c.777+12C>T
|
|
|
|
NM_004629.2(FANCG):c.777+15A>G
|
|
|
|
NM_004629.2(FANCG):c.777+18G>A
|
|
|
|
NM_004629.2(FANCG):c.777+18G>T
|
|
|
|
NM_004629.2(FANCG):c.777+1G>A
|
rs1060501862
|
|
|
NM_004629.2(FANCG):c.777+8C>T
|
rs367809061
|
|
|
NM_004629.2(FANCG):c.778-10A>G
|
|
|
|
NM_004629.2(FANCG):c.778-12C>G
|
|
|
|
NM_004629.2(FANCG):c.778-13C>A
|
|
|
|
NM_004629.2(FANCG):c.778-13_778-11del
|
rs2131056154
|
|
|
NM_004629.2(FANCG):c.778-15C>G
|
|
|
|
NM_004629.2(FANCG):c.778-1G>A
|
rs767518932
|
|
|
NM_004629.2(FANCG):c.778-1G>C
|
rs767518932
|
|
|
NM_004629.2(FANCG):c.778-20G>A
|
rs749563301
|
|
|
NM_004629.2(FANCG):c.778-4T>G
|
rs2131056132
|
|
|
NM_004629.2(FANCG):c.778-9T>A
|
|
|
|
NM_004629.2(FANCG):c.780A>G (p.Gly260=)
|
rs751407167
|
|
|
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu)
|
rs149721361
|
|
|
NM_004629.2(FANCG):c.787_788del (p.Gln263fs)
|
|
|
|
NM_004629.2(FANCG):c.798G>A (p.Leu266=)
|
|
|
|
NM_004629.2(FANCG):c.801G>C (p.Leu267Phe)
|
rs1482595465
|
|
|
NM_004629.2(FANCG):c.807G>C (p.Leu269Phe)
|
|
|
|
NM_004629.2(FANCG):c.819G>A (p.Leu273=)
|
rs2131056040
|
|
|
NM_004629.2(FANCG):c.81C>A (p.Ala27=)
|
rs1060504372
|
|
|
NM_004629.2(FANCG):c.81C>T (p.Ala27=)
|
rs1060504372
|
|
|
NM_004629.2(FANCG):c.824_825del (p.Glu275fs)
|
rs867467817
|
|
|
NM_004629.2(FANCG):c.825_828del (p.Glu275fs)
|
|
|
|
NM_004629.2(FANCG):c.833C>T (p.Ala278Val)
|
rs771395169
|
|
|
NM_004629.2(FANCG):c.834C>T (p.Ala278=)
|
rs1466753644
|
|
|
NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)
|
|
|
|
NM_004629.2(FANCG):c.84+13C>T
|
|
|
|
NM_004629.2(FANCG):c.84+16G>A
|
|
|
|
NM_004629.2(FANCG):c.84+1G>A
|
|
|
|
NM_004629.2(FANCG):c.84+8_84+9del
|
rs1829143867
|
|
|
NM_004629.2(FANCG):c.84+9G>A
|
|
|
|
NM_004629.2(FANCG):c.84+9G>C
|
|
|
|
NM_004629.2(FANCG):c.84+9del
|
rs2131060242
|
|
|
NM_004629.2(FANCG):c.85-10C>T
|
rs752826583
|
|
|
NM_004629.2(FANCG):c.85-13C>G
|
|
|
|
NM_004629.2(FANCG):c.85-16C>A
|
|
|
|
NM_004629.2(FANCG):c.85-18C>T
|
|
|
|
NM_004629.2(FANCG):c.85-19C>A
|
|
|
|
NM_004629.2(FANCG):c.85-1G>A
|
rs1052044702
|
|
|
NM_004629.2(FANCG):c.85-4G>T
|
|
|
|
NM_004629.2(FANCG):c.85-7G>A
|
rs946449199
|
|
|
NM_004629.2(FANCG):c.85-9_85-8del
|
|
|
|
NM_004629.2(FANCG):c.865C>A (p.Leu289Ile)
|
|
|
|
NM_004629.2(FANCG):c.873G>A (p.Gln291=)
|
|
|
|
NM_004629.2(FANCG):c.877C>T (p.Leu293=)
|
|
|
|
NM_004629.2(FANCG):c.87G>T (p.Val29=)
|
|
|
|
NM_004629.2(FANCG):c.882G>C (p.Gly294=)
|
|
|
|
NM_004629.2(FANCG):c.882G>T (p.Gly294=)
|
rs2131055932
|
|
|
NM_004629.2(FANCG):c.883dup (p.Asp295fs)
|
rs1829092483
|
|
|
NM_004629.2(FANCG):c.889A>G (p.Thr297Ala)
|
|
|
|
NM_004629.2(FANCG):c.895G>A (p.Glu299Lys)
|
|
|
|
NM_004629.2(FANCG):c.906_907delinsAT (p.Ser302Arg)
|
|
|
|
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
|
|
|
|
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)
|
rs1563986439
|
|
|
NM_004629.2(FANCG):c.912G>A (p.Glu304=)
|
|
|
|
NM_004629.2(FANCG):c.913C>T (p.Leu305=)
|
|
|
|
NM_004629.2(FANCG):c.915G>A (p.Leu305=)
|
rs763736360
|
|
|
NM_004629.2(FANCG):c.916C>A (p.Leu306Ile)
|
|
|
|
NM_004629.2(FANCG):c.917T>C (p.Leu306Pro)
|
|
|
|
NM_004629.2(FANCG):c.920T>G (p.Val307Gly)
|
rs774982952
|
|
|
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
|
|
|
|
NM_004629.2(FANCG):c.924+14_924+15del
|
|
|
|
NM_004629.2(FANCG):c.924+1G>A
|
rs1829091761
|
|
|
NM_004629.2(FANCG):c.924+20A>C
|
|
|
|
NM_004629.2(FANCG):c.924+9C>T
|
|
|
|
NM_004629.2(FANCG):c.925-11T>C
|
|
|
|
NM_004629.2(FANCG):c.925-12T>G
|
|
|
|
NM_004629.2(FANCG):c.925-13C>A
|
rs896457719
|
|
|
NM_004629.2(FANCG):c.925-13C>T
|
|
|
|
NM_004629.2(FANCG):c.925-18T>C
|
|
|
|
NM_004629.2(FANCG):c.925-1G>C
|
|
|
|
NM_004629.2(FANCG):c.925-1G>T
|
|
|
|
NM_004629.2(FANCG):c.925-20T>C
|
rs1442157681
|
|
|
NM_004629.2(FANCG):c.925-7C>T
|
|
|
|
NM_004629.2(FANCG):c.925-9C>T
|
|
|
|
NM_004629.2(FANCG):c.927C>G (p.Ala309=)
|
rs370002843
|
|
|
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
|
|
|
|
NM_004629.2(FANCG):c.936C>G (p.Val312=)
|
rs934681493
|
|
|
NM_004629.2(FANCG):c.936C>T (p.Val312=)
|
rs934681493
|
|
|
NM_004629.2(FANCG):c.939A>G (p.Pro313=)
|
|
|
|
NM_004629.2(FANCG):c.941del (p.Cys314fs)
|
|
|
|
NM_004629.2(FANCG):c.948C>A (p.Ser316=)
|
rs2131055519
|
|
|
NM_004629.2(FANCG):c.954C>T (p.Ala318=)
|
|
|
|
NM_004629.2(FANCG):c.955C>A (p.Pro319Thr)
|
|
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
|
NM_004629.2(FANCG):c.957G>C (p.Pro319=)
|
rs145092954
|
|
|
NM_004629.2(FANCG):c.965T>G (p.Leu322Arg)
|
|
|
|
NM_004629.2(FANCG):c.966C>T (p.Leu322=)
|
|
|
|
NM_004629.2(FANCG):c.978A>G (p.Glu326=)
|
|
|
|
NM_004629.2(FANCG):c.979T>C (p.Leu327=)
|
rs2131055465
|
|
|
NM_004629.2(FANCG):c.981dup (p.Leu328fs)
|
rs2131055463
|
|
|
NM_004629.2(FANCG):c.982C>T (p.Leu328=)
|
rs1829086717
|
|
|
NM_004629.2(FANCG):c.984A>G (p.Leu328=)
|
rs375991144
|
|
|
NM_004629.2(FANCG):c.987G>A (p.Leu329=)
|
rs2131055445
|
|
|
NM_004629.2(FANCG):c.990A>G (p.Pro330=)
|
|
|
|
NM_004629.2(FANCG):c.993A>G (p.Pro331=)
|
|
|
|
NM_004629.2(FANCG):c.996T>A (p.Pro332=)
|
|
|
|
NM_004629.2(FANCG):c.99C>G (p.Ser33=)
|
rs762740884
|
|
|
NM_004629.2(FANCG):c.9C>G (p.Arg3=)
|
rs2131060423
|
|
|
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)
|
|
|
|
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=)
|
rs1162384254
|
|
|
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
|
|
|
|
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
|
|
|
|
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile)
|
rs755219554
|
|
|
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys)
|
rs145851520
|
|
|
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)
|
rs145851520
|
|
|
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr)
|
rs201410515
|
|
|
NM_005236.3(ERCC4):c.1062A>G (p.Lys354=)
|
|
|
|
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
|
|
|
|
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
|
|
|
|
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=)
|
|
|
|
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=)
|
|
|
|
NM_005236.3(ERCC4):c.1102+14T>C
|
|
|
|
NM_005236.3(ERCC4):c.1102+20C>T
|
|
|
|
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=)
|
|
|
|
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys)
|
rs2032238318
|
|
|
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
|
|
|
|
NM_005236.3(ERCC4):c.114G>A (p.Gly38=)
|
|
|
|
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)
|
|
|
|
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)
|
rs779091652
|
|
|
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
|
|
|
|
NM_005236.3(ERCC4):c.1213+11dup
|
|
|
|
NM_005236.3(ERCC4):c.1213+8A>G
|
|
|
|
NM_005236.3(ERCC4):c.1214-10C>A
|
|
|
|
NM_005236.3(ERCC4):c.1214-8A>G
|
|
|
|
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
|
|
|
|
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly)
|
rs374470560
|
|
|
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=)
|
rs2141606819
|
|
|
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
|
|
|
|
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
|
|
|
|
NM_005236.3(ERCC4):c.129G>A (p.Arg43=)
|
|
|
|
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)
|
rs1596616623
|
|
|
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=)
|
|
|
|
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=)
|
rs2141606968
|
|
|
NM_005236.3(ERCC4):c.132C>T (p.Leu44=)
|
rs1482378244
|
|
|
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
|
|
|
|
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)
|
rs547209644
|
|
|
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
|
|
|
|
NM_005236.3(ERCC4):c.1347C>G (p.Val449=)
|
rs1352012558
|
|
|
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
|
|
|
|
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
|
|
|
|
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)
|
|
|
|
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
|
|
|
|
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
|
|
|
|
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)
|
|
|
|
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)
|
rs780488548
|
|
|
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
|
|
|
|
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
|
|
|
|
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
|
|
|
|
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=)
|
|
|
|
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
|
|
|
|
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg)
|
rs886051664
|
|
|
NM_005236.3(ERCC4):c.147C>T (p.Leu49=)
|
|
|
|
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile)
|
rs2141607404
|
|
|
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
|
|
|
|
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=)
|
|
|
|
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg)
|
rs2141607524
|
|
|
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
|
|
|
|
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del)
|
rs2141607630
|
|
|
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
|
|
|
|
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=)
|
|
|
|
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=)
|
|
|
|
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
|
|
|
|
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
|
|
|
|
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
|
|
|
|
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=)
|
|
|
|
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val)
|
rs376216413
|
|
|
NM_005236.3(ERCC4):c.165A>G (p.Pro55=)
|
|
|
|
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=)
|
rs776049363
|
|
|
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
|
|
|
|
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys)
|
rs1443581940
|
|
|
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=)
|
|
|
|
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys)
|
rs765254949
|
|
|
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
|
|
|
|
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
|
|
|
|
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=)
|
rs2141607987
|
|
|
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer)
|
rs1555468482
|
|
|
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
|
|
|
|
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro)
|
rs2032274770
|
|
|
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=)
|
|
|
|
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
|
|
|
|
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
|
|
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
|
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)
|
|
|
|
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
|
|
|
|
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=)
|
rs374303503
|
|
|
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)
|
|
|
|
NM_005236.3(ERCC4):c.178C>T (p.Leu60=)
|
rs2141937412
|
|
|
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu)
|
rs1336284412
|
|
|
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
|
|
|
|
NM_005236.3(ERCC4):c.1811+16T>C
|
|
|
|
NM_005236.3(ERCC4):c.1811+9T>A
|
|
|
|
NM_005236.3(ERCC4):c.1811+9T>G
|
rs1235957230
|
|
|
NM_005236.3(ERCC4):c.1812-17T>C
|
rs1399858595
|
|
|
NM_005236.3(ERCC4):c.1812-6A>G
|
|
|
|
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
|
|
|
|
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
|
|
|
|
NM_005236.3(ERCC4):c.183G>A (p.Val61=)
|
rs1215558892
|
|
|
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
|
|
|
|
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
|
|
|
|
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
|
|
|
|
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
|
|
|
|
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=)
|
rs766395322
|
|
|
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp)
|
rs766395322
|
|
|
NM_005236.3(ERCC4):c.187A>C (p.Asn63His)
|
rs1203098300
|
|
|
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
|
rs772899497
|
|
|
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
|
|
|
|
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=)
|
rs954215121
|
|
|
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
|
|
|
|
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
|
|
|
|
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
|
|
|
|
NM_005236.3(ERCC4):c.1904+7C>T
|
|
|
|
NM_005236.3(ERCC4):c.1905-20G>C
|
|
|
|
NM_005236.3(ERCC4):c.1905-4A>G
|
|
|
|
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
|
|
|
|
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu)
|
rs770771750
|
|
|
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
|
|
|
|
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=)
|
|
|
|
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
|
|
|
|
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=)
|
rs2141617128
|
|
|
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
|
|
|
|
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
|
|
|
|
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr)
|
rs771117594
|
|
|
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
|
|
|
|
NM_005236.3(ERCC4):c.2017+19del
|
|
|
|
NM_005236.3(ERCC4):c.2018-19A>T
|
|
|
|
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln)
|
rs2141619663
|
|
|
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
|
|
|
|
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
|
|
|
|
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
|
rs149364215
|
|
|
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=)
|
|
|
|
NM_005236.3(ERCC4):c.207+13T>A
|
rs759023704
|
|
|
NM_005236.3(ERCC4):c.207+13T>C
|
rs759023704
|
|
|
NM_005236.3(ERCC4):c.207+16C>G
|
|
|
|
NM_005236.3(ERCC4):c.207+19G>T
|
|
|
|
NM_005236.3(ERCC4):c.207+6G>T
|
rs2141937518
|
|
|
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
|
|
|
|
NM_005236.3(ERCC4):c.208-19C>G
|
|
|
|
NM_005236.3(ERCC4):c.208-3T>C
|
rs773956647
|
|
|
NM_005236.3(ERCC4):c.208-3T>G
|
|
|
|
NM_005236.3(ERCC4):c.208-6A>G
|
rs1596617926
|
|
|
NM_005236.3(ERCC4):c.208-7G>T
|
|
|
|
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
|
|
|
|
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)
|
|
|
|
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
|
|
|
|
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
|
|
|
|
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val)
|
rs774900622
|
|
|
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
|
|
|
|
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val)
|
rs2032542117
|
|
|
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
|
|
|
|
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=)
|
rs376391395
|
|
|
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=)
|
rs376391395
|
|
|
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn)
|
rs1442567731
|
|
|
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr)
|
rs2141619950
|
|
|
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu)
|
rs2141939855
|
|
|
NM_005236.3(ERCC4):c.2169C>T (p.Cys723=)
|
rs2020959
|
|
|
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His)
|
rs368096448
|
|
|
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=)
|
|
|
|
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
|
|
|
|
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp)
|
rs2032546331
|
|
|
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)
|
|
|
|
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=)
|
rs1193180379
|
|
|
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
|
|
|
|
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)
|
rs756050702
|
|
|
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
|
|
|
|
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
|
|
|
|
NM_005236.3(ERCC4):c.22C>A (p.Arg8=)
|
rs774510191
|
|
|
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
|
rs774510191
|
|
|
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=)
|
rs765321722
|
|
|
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser)
|
rs2032550979
|
|
|
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
|
|
|
|
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)
|
|
|
|
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
|
|
|
|
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
|
|
|
|
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
|
|
|
|
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
|
|
|
|
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu)
|
rs1303709169
|
|
|
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=)
|
rs111613748
|
|
|
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)
|
|
|
|
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
|
|
|
|
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)
|
rs55761944
|
|
|
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)
|
rs55761944
|
|
|
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=)
|
rs1031792719
|
|
|
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
|
|
|
|
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
|
|
|
|
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
|
|
|
|
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val)
|
rs765253522
|
|
|
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=)
|
rs1417783312
|
|
|
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
|
|
|
|
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
|
|
|
|
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
|
|
|
|
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe)
|
rs2141939932
|
|
|
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
|
|
|
|
NM_005236.3(ERCC4):c.2535T>C (p.Asn845=)
|
|
|
|
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
|
|
|
|
NM_005236.3(ERCC4):c.2574G>A (p.Val858=)
|
rs753126294
|
|
|
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr)
|
rs2032559742
|
|
|
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
|
|
|
|
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
|
|
|
|
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg)
|
rs368064765
|
|
|
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
|
|
|
|
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met)
|
rs759042927
|
|
|
NM_005236.3(ERCC4):c.2619C>T (p.Ile873=)
|
rs759042927
|
|
|
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr)
|
rs2032561804
|
|
|
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val)
|
rs766946690
|
|
|
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
|
|
|
|
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
|
|
|
|
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
|
|
|
|
NM_005236.3(ERCC4):c.2635C>T (p.Leu879=)
|
|
|
|
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=)
|
|
|
|
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
|
|
|
|
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
|
|
|
|
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
|
|
|
|
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
|
|
|
|
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=)
|
|
|
|
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr)
|
rs2141621448
|
|
|
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)
|
|
|
|
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)
|
|
|
|
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)
|
rs1214498950
|
|
|
NM_005236.3(ERCC4):c.2706C>T (p.His902=)
|
|
|
|
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
|
|
|
|
NM_005236.3(ERCC4):c.2724C>G (p.Val908=)
|
|
|
|
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg)
|
rs2032565777
|
|
|
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
|
|
|
|
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
|
|
|
|
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
|
|
|
|
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
|
|
|
|
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=)
|
|
|
|
NM_005236.3(ERCC4):c.306A>G (p.Thr102=)
|
|
|
|
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
|
|
|
|
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
|
|
|
|
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
|
|
|
|
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
|
|
|
|
NM_005236.3(ERCC4):c.327G>A (p.Ala109=)
|
|
|
|
NM_005236.3(ERCC4):c.336G>A (p.Arg112=)
|
|
|
|
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
|
|
|
|
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
|
|
|
|
NM_005236.3(ERCC4):c.355T>C (p.Leu119=)
|
|
|
|
NM_005236.3(ERCC4):c.363T>C (p.Asp121=)
|
|
|
|
NM_005236.3(ERCC4):c.372T>C (p.Pro124=)
|
rs780096152
|
|
|
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)
|
rs374243778
|
|
|
NM_005236.3(ERCC4):c.381A>G (p.Leu127=)
|
|
|
|
NM_005236.3(ERCC4):c.388+13A>G
|
rs2078004740
|
|
|
NM_005236.3(ERCC4):c.388+15T>C
|
|
|
|
NM_005236.3(ERCC4):c.388+20_388+25del
|
|
|
|
NM_005236.3(ERCC4):c.389-5C>A
|
|
|
|
NM_005236.3(ERCC4):c.389-8C>G
|
rs1325456652
|
|
|
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=)
|
|
|
|
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys)
|
rs772606808
|
|
|
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
|
|
|
|
NM_005236.3(ERCC4):c.412A>C (p.Arg138=)
|
|
|
|
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys)
|
rs1567243693
|
|
|
NM_005236.3(ERCC4):c.420C>T (p.Ile140=)
|
rs138724289
|
|
|
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
|
|
|
|
NM_005236.3(ERCC4):c.42G>A (p.Pro14=)
|
rs2141936987
|
|
|
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
|
|
|
|
NM_005236.3(ERCC4):c.43C>T (p.Leu15=)
|
|
|
|
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
|
|
|
|
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys)
|
rs1307031587
|
|
|
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
|
|
|
|
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser)
|
rs181993439
|
|
|
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu)
|
rs2032078220
|
|
|
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp)
|
rs2032078374
|
|
|
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)
|
rs373789508
|
|
|
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)
|
rs2020961
|
|
|
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)
|
rs2020961
|
|
|
NM_005236.3(ERCC4):c.514G>C (p.Asp172His)
|
rs1405781900
|
|
|
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
|
|
|
|
NM_005236.3(ERCC4):c.534G>T (p.Val178=)
|
rs957009045
|
|
|
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
|
|
|
|
NM_005236.3(ERCC4):c.555T>C (p.Leu185=)
|
rs113129434
|
|
|
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)
|
rs1419167361
|
|
|
NM_005236.3(ERCC4):c.561G>A (p.Val187=)
|
|
|
|
NM_005236.3(ERCC4):c.576G>C (p.Leu192=)
|
rs2141944936
|
|
|
NM_005236.3(ERCC4):c.580_584+1del
|
rs776329282
|
|
|
NM_005236.3(ERCC4):c.585-18A>C
|
|
|
|
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)
|
rs1355878901
|
|
|
NM_005236.3(ERCC4):c.591T>C (p.His197=)
|
|
|
|
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
|
|
|
|
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
|
|
|
|
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
|
|
|
|
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val)
|
rs2141946160
|
|
|
NM_005236.3(ERCC4):c.681T>G (p.Thr227=)
|
|
|
|
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
|
|
|
|
NM_005236.3(ERCC4):c.68del (p.Val23fs)
|
|
|
|
NM_005236.3(ERCC4):c.705A>G (p.Ala235=)
|
rs2032105533
|
|
|
NM_005236.3(ERCC4):c.711A>G (p.Leu237=)
|
|
|
|
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu)
|
rs2032105702
|
|
|
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
|
|
|
|
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
|
|
|
|
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
|
|
|
|
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
|
|
|
|
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn)
|
rs2032106630
|
|
|
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser)
|
rs962536419
|
|
|
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
|
|
|
|
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu)
|
rs1463126902
|
|
|
NM_005236.3(ERCC4):c.792+7T>C
|
|
|
|
NM_005236.3(ERCC4):c.793-17T>C
|
rs2141948343
|
|
|
NM_005236.3(ERCC4):c.793-18A>G
|
|
|
|
NM_005236.3(ERCC4):c.793-2A>G
|
rs2032155264
|
|
|
NM_005236.3(ERCC4):c.800G>A (p.Arg267His)
|
rs143479220
|
|
|
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)
|
rs143479220
|
|
|
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.816T>A (p.Pro272=)
|
rs2141948404
|
|
|
NM_005236.3(ERCC4):c.81C>T (p.Leu27=)
|
|
|
|
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
|
|
|
|
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr)
|
rs2141948413
|
|
|
NM_005236.3(ERCC4):c.837C>G (p.Ala279=)
|
rs2032156289
|
|
|
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
|
|
|
|
NM_005236.3(ERCC4):c.846A>G (p.Lys282=)
|
|
|
|
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
|
|
|
|
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
|
|
|
|
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
|
|
|
|
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met)
|
rs1237587281
|
|
|
NM_005236.3(ERCC4):c.871T>C (p.Leu291=)
|
|
|
|
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
|
|
|
|
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
|
|
|
|
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn)
|
rs778480216
|
|
|
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys)
|
rs996851583
|
|
|
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)
|
|
|
|
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser)
|
rs772385411
|
|
|
NM_005236.3(ERCC4):c.915del (p.Asn308fs)
|
rs772432152
|
|
|
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
|
|
|
|
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
|
|
|
|
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
|
|
|
|
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly)
|
rs773938568
|
|
|
NM_005236.3(ERCC4):c.96A>G (p.Leu32=)
|
|
|
|
NM_005236.3(ERCC4):c.973+17C>T
|
|
|
|
NM_005236.3(ERCC4):c.973+20A>G
|
|
|
|
NM_005236.3(ERCC4):c.973+7G>A
|
rs1216362714
|
|
|
NM_005236.3(ERCC4):c.974-20_974-16del
|
rs2141949732
|
|
|
NM_005236.3(ERCC4):c.974-7_974-6inv
|
|
|
|
NM_005236.3(ERCC4):c.974-8C>T
|
rs1567245872
|
|
|
NM_005236.3(ERCC4):c.981G>A (p.Leu327=)
|
|
|
|
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
|
|
|
|
NM_005236.3(ERCC4):c.9A>C (p.Ser3=)
|
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
|
NM_018062.4(FANCL):c.1005A>G (p.Gln335=)
|
rs1158938280
|
|
|
NM_018062.4(FANCL):c.1014A>G (p.Leu338=)
|
|
|
|
NM_018062.4(FANCL):c.1017T>C (p.Tyr339=)
|
|
|
|
NM_018062.4(FANCL):c.1020+14A>G
|
|
|
|
NM_018062.4(FANCL):c.1020+14del
|
|
|
|
NM_018062.4(FANCL):c.1020+17T>C
|
|
|
|
NM_018062.4(FANCL):c.1020+18T>C
|
|
|
|
NM_018062.4(FANCL):c.1020+20T>G
|
|
|
|
NM_018062.4(FANCL):c.1020+8dup
|
|
|
|
NM_018062.4(FANCL):c.1020+9_1020+11del
|
|
|
|
NM_018062.4(FANCL):c.1021-16C>G
|
|
|
|
NM_018062.4(FANCL):c.1021-18A>C
|
|
|
|
NM_018062.4(FANCL):c.1021-18_1021-14dup
|
|
|
|
NM_018062.4(FANCL):c.1021-18_1021-15dup
|
|
|
|
NM_018062.4(FANCL):c.1021-22_1021-20del
|
|
|
|
NM_018062.4(FANCL):c.1021-23_1021-15del
|
|
|
|
NM_018062.4(FANCL):c.1021-2A>G
|
|
|
|
NM_018062.4(FANCL):c.1021-7T>C
|
|
|
|
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg)
|
rs1558727863
|
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
|
|
|
NM_018062.4(FANCL):c.102A>G (p.Arg34=)
|
rs759217429
|
|
|
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
|
|
|
|
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
|
|
|
|
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
|
|
|
|
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
|
|
|
|
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
|
|
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
|
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
|
|
|
|
NM_018062.4(FANCL):c.105C>T (p.Asp35=)
|
|
|
|
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
|
|
|
|
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
|
|
|
|
NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr)
|
rs748875030
|
|
|
NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala)
|
rs748875030
|
|
|
NM_018062.4(FANCL):c.1080A>G (p.Pro360=)
|
|
|
|
NM_018062.4(FANCL):c.1092+14T>G
|
|
|
|
NM_018062.4(FANCL):c.1092+15A>G
|
|
|
|
NM_018062.4(FANCL):c.1092+17T>C
|
|
|
|
NM_018062.4(FANCL):c.1092+18C>G
|
|
|
|
NM_018062.4(FANCL):c.1092+1_1092+5del
|
rs1558727300
|
|
|
NM_018062.4(FANCL):c.1093-10C>A
|
|
|
|
NM_018062.4(FANCL):c.1093-10_1093-8del
|
|
|
|
NM_018062.4(FANCL):c.1093-11T>A
|
|
|
|
NM_018062.4(FANCL):c.1093-12C>G
|
|
|
|
NM_018062.4(FANCL):c.1093-13T>A
|
|
|
|
NM_018062.4(FANCL):c.1093-13T>C
|
|
|
|
NM_018062.4(FANCL):c.1093-15G>A
|
|
|
|
NM_018062.4(FANCL):c.1093-15G>T
|
rs767450055
|
|
|
NM_018062.4(FANCL):c.1093-17A>T
|
|
|
|
NM_018062.4(FANCL):c.1093-18T>G
|
|
|
|
NM_018062.4(FANCL):c.1096A>G (p.Ile366Val)
|
|
|
|
NM_018062.4(FANCL):c.1109T>C (p.Met370Thr)
|
rs1684813547
|
|
|
NM_018062.4(FANCL):c.1118G>C (p.Arg373Thr)
|
|
|
|
NM_018062.4(FANCL):c.1123C>G (p.His375Asp)
|
|
|
|
NM_018062.4(FANCL):c.121G>A (p.Val41Met)
|
|
|
|
NM_018062.4(FANCL):c.129T>C (p.Pro43=)
|
|
|
|
NM_018062.4(FANCL):c.12G>C (p.Thr4=)
|
|
|
|
NM_018062.4(FANCL):c.134A>T (p.Asp45Val)
|
rs1573820532
|
|
|
NM_018062.4(FANCL):c.136T>A (p.Leu46Ile)
|
rs781357185
|
|
|
NM_018062.4(FANCL):c.136T>G (p.Leu46Val)
|
|
|
|
NM_018062.4(FANCL):c.138A>G (p.Leu46=)
|
|
|
|
NM_018062.4(FANCL):c.13del (p.Glu5fs)
|
|
|
|
NM_018062.4(FANCL):c.141A>G (p.Gln47=)
|
|
|
|
NM_018062.4(FANCL):c.147G>A (p.Lys49=)
|
|
|
|
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)
|
rs1558825558
|
|
|
NM_018062.4(FANCL):c.150T>C (p.Asn50=)
|
|
|
|
NM_018062.4(FANCL):c.153A>G (p.Ala51=)
|
rs2103919517
|
|
|
NM_018062.4(FANCL):c.155+18T>A
|
rs1573820307
|
|
|
NM_018062.4(FANCL):c.155+19A>T
|
|
|
|
NM_018062.4(FANCL):c.155+8G>A
|
|
|
|
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys)
|
rs1693636944
|
|
|
NM_018062.4(FANCL):c.156-11T>A
|
|
|
|
NM_018062.4(FANCL):c.156-11T>C
|
|
|
|
NM_018062.4(FANCL):c.156-12T>C
|
|
|
|
NM_018062.4(FANCL):c.156-13A>C
|
|
|
|
NM_018062.4(FANCL):c.156-13A>T
|
|
|
|
NM_018062.4(FANCL):c.156-14C>T
|
|
|
|
NM_018062.4(FANCL):c.156-15T>C
|
rs2103886212
|
|
|
NM_018062.4(FANCL):c.156-16C>T
|
|
|
|
NM_018062.4(FANCL):c.156-3T>G
|
|
|
|
NM_018062.4(FANCL):c.156-8A>C
|
rs878855045
|
|
|
NM_018062.4(FANCL):c.159A>C (p.Leu53Phe)
|
|
|
|
NM_018062.4(FANCL):c.163T>A (p.Cys55Ser)
|
|
|
|
NM_018062.4(FANCL):c.167G>C (p.Ser56Thr)
|
rs778972805
|
|
|
NM_018062.4(FANCL):c.181A>G (p.Thr61Ala)
|
|
|
|
NM_018062.4(FANCL):c.191G>A (p.Ser64Asn)
|
rs1693400339
|
|
|
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
|
|
|
|
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
|
|
|
|
NM_018062.4(FANCL):c.202C>A (p.Arg68=)
|
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
|
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln)
|
rs143819820
|
|
|
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn)
|
rs376224867
|
|
|
NM_018062.4(FANCL):c.20G>C (p.Ser7Thr)
|
rs376224867
|
|
|
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile)
|
rs376224867
|
|
|
NM_018062.4(FANCL):c.210A>G (p.Val70=)
|
|
|
|
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter)
|
rs753105795
|
|
|
NM_018062.4(FANCL):c.213A>G (p.Gln71=)
|
|
|
|
NM_018062.4(FANCL):c.216+13del
|
rs1558823075
|
|
|
NM_018062.4(FANCL):c.216+14A>G
|
|
|
|
NM_018062.4(FANCL):c.216+17A>G
|
|
|
|
NM_018062.4(FANCL):c.216+7C>G
|
|
|
|
NM_018062.4(FANCL):c.216+8C>G
|
|
|
|
NM_018062.4(FANCL):c.216+9T>C
|
|
|
|
NM_018062.4(FANCL):c.217-2A>G
|
|
|
|
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg)
|
rs200559825
|
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
|
NM_018062.4(FANCL):c.224A>G (p.Gln75Arg)
|
rs754363760
|
|
|
NM_018062.4(FANCL):c.226C>T (p.His76Tyr)
|
rs1693047999
|
|
|
NM_018062.4(FANCL):c.229T>C (p.Ser77Pro)
|
|
|
|
NM_018062.4(FANCL):c.22C>A (p.Leu8Met)
|
rs764378405
|
|
|
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
|
|
|
|
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
|
|
|
|
NM_018062.4(FANCL):c.234T>C (p.Pro78=)
|
|
|
|
NM_018062.4(FANCL):c.235del (p.Asp79fs)
|
|
|
|
NM_018062.4(FANCL):c.240A>C (p.Leu80=)
|
|
|
|
NM_018062.4(FANCL):c.241A>G (p.Met81Val)
|
rs1440897827
|
|
|
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
|
|
|
|
NM_018062.4(FANCL):c.24G>A (p.Leu8=)
|
|
|
|
NM_018062.4(FANCL):c.24G>T (p.Leu8=)
|
|
|
|
NM_018062.4(FANCL):c.252G>A (p.Met84Ile)
|
|
|
|
NM_018062.4(FANCL):c.259T>A (p.Leu87Met)
|
|
|
|
NM_018062.4(FANCL):c.267G>T (p.Met89Ile)
|
rs1378650753
|
|
|
NM_018062.4(FANCL):c.268del (p.Leu90fs)
|
rs869320684
|
|
|
NM_018062.4(FANCL):c.273+1G>A
|
rs144729980
|
|
|
NM_018062.4(FANCL):c.273+7A>T
|
|
|
|
NM_018062.4(FANCL):c.273+7dup
|
|
|
|
NM_018062.4(FANCL):c.274-11_274-9del
|
rs766344718
|
|
|
NM_018062.4(FANCL):c.274-14C>G
|
|
|
|
NM_018062.4(FANCL):c.274-19G>A
|
|
|
|
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys)
|
rs2103754665
|
|
|
NM_018062.4(FANCL):c.276A>G (p.Glu92=)
|
|
|
|
NM_018062.4(FANCL):c.27G>A (p.Leu9=)
|
|
|
|
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe)
|
rs370409722
|
|
|
NM_018062.4(FANCL):c.27G>T (p.Leu9Phe)
|
|
|
|
NM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe)
|
|
|
|
NM_018062.4(FANCL):c.282C>T (p.Ala94=)
|
|
|
|
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
|
|
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
|
NM_018062.4(FANCL):c.291T>C (p.Asn97=)
|
|
|
|
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys)
|
rs1196510455
|
|
|
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.308C>T (p.Ala103Val)
|
rs746623168
|
|
|
NM_018062.4(FANCL):c.309A>G (p.Ala103=)
|
|
|
|
NM_018062.4(FANCL):c.30C>T (p.Arg10=)
|
|
|
|
NM_018062.4(FANCL):c.310C>T (p.Leu104=)
|
rs1225517747
|
|
|
NM_018062.4(FANCL):c.312A>G (p.Leu104=)
|
|
|
|
NM_018062.4(FANCL):c.318T>C (p.Pro106=)
|
|
|
|
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala)
|
rs754028115
|
|
|
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
|
|
|
|
NM_018062.4(FANCL):c.320del (p.Pro107fs)
|
|
|
|
NM_018062.4(FANCL):c.324C>G (p.Pro108=)
|
|
|
|
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
|
|
|
|
NM_018062.4(FANCL):c.330C>T (p.Phe110=)
|
|
|
|
NM_018062.4(FANCL):c.333C>T (p.Tyr111=)
|
|
|
|
NM_018062.4(FANCL):c.336A>G (p.Ser112=)
|
|
|
|
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg)
|
rs2103752897
|
|
|
NM_018062.4(FANCL):c.345T>A (p.Ile115=)
|
|
|
|
NM_018062.4(FANCL):c.350A>C (p.Glu117Ala)
|
rs2103752683
|
|
|
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr)
|
rs2104082854
|
|
|
NM_018062.4(FANCL):c.35G>C (p.Cys12Ser)
|
|
|
|
NM_018062.4(FANCL):c.361C>T (p.Leu121Phe)
|
|
|
|
NM_018062.4(FANCL):c.363T>C (p.Leu121=)
|
|
|
|
NM_018062.4(FANCL):c.365G>T (p.Gly122Val)
|
rs2103752402
|
|
|
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
|
|
|
|
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
|
rs756487177
|
|
|
NM_018062.4(FANCL):c.374+13T>G
|
|
|
|
NM_018062.4(FANCL):c.374+16_374+20del
|
|
|
|
NM_018062.4(FANCL):c.374+19_374+20del
|
rs1692517175
|
|
|
NM_018062.4(FANCL):c.374+20T>A
|
|
|
|
NM_018062.4(FANCL):c.374+3A>G
|
rs999309828
|
|
|
NM_018062.4(FANCL):c.374+7C>T
|
|
|
|
NM_018062.4(FANCL):c.375-11C>T
|
|
|
|
NM_018062.4(FANCL):c.375-13_375-11del
|
rs759671554
|
|
|
NM_018062.4(FANCL):c.375-14C>T
|
|
|
|
NM_018062.4(FANCL):c.375-16C>T
|
|
|
|
NM_018062.4(FANCL):c.375-17T>G
|
|
|
|
NM_018062.4(FANCL):c.375-19A>C
|
|
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
|
NM_018062.4(FANCL):c.375-2033C>T
|
|
|
|
NM_018062.4(FANCL):c.375-20T>A
|
|
|
|
NM_018062.4(FANCL):c.375-5A>T
|
rs2105148555
|
|
|
NM_018062.4(FANCL):c.378T>A (p.Leu126=)
|
rs746200741
|
|
|
NM_018062.4(FANCL):c.378del (p.Val127fs)
|
|
|
|
NM_018062.4(FANCL):c.384T>C (p.Tyr128=)
|
rs1245585990
|
|
|
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
|
|
|
|
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
|
|
|
|
NM_018062.4(FANCL):c.385_397del (p.Ala129fs)
|
rs2105148069
|
|
|
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr)
|
rs1690340999
|
|
|
NM_018062.4(FANCL):c.390T>C (p.Asp130=)
|
|
|
|
NM_018062.4(FANCL):c.39C>A (p.Pro13=)
|
rs201708705
|
|
|
NM_018062.4(FANCL):c.39C>G (p.Pro13=)
|
rs201708705
|
|
|
NM_018062.4(FANCL):c.3G>A (p.Met1Ile)
|
rs1694527909
|
|
|
NM_018062.4(FANCL):c.405C>G (p.Thr135=)
|
|
|
|
NM_018062.4(FANCL):c.408C>G (p.Ile136Met)
|
rs1389670408
|
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
|
NM_018062.4(FANCL):c.40dup (p.Leu14fs)
|
rs761039364
|
|
|
NM_018062.4(FANCL):c.417A>G (p.Lys139=)
|
rs1690337979
|
|
|
NM_018062.4(FANCL):c.420A>G (p.Ala140=)
|
rs1573699668
|
|
|
NM_018062.4(FANCL):c.426_438del (p.Asp142fs)
|
rs878855046
|
|
|
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly)
|
rs756000370
|
|
|
NM_018062.4(FANCL):c.429T>C (p.Ala143=)
|
|
|
|
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr)
|
rs2105147558
|
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
|
NM_018062.4(FANCL):c.435T>G (p.Gly145=)
|
rs2105147481
|
|
|
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
|
|
|
|
NM_018062.4(FANCL):c.44T>A (p.Leu15His)
|
rs1694519859
|
|
|
NM_018062.4(FANCL):c.450C>A (p.Ile150=)
|
|
|
|
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
|
|
|
|
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
|
|
|
|
NM_018062.4(FANCL):c.456C>G (p.Leu152=)
|
|
|
|
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
|
|
|
|
NM_018062.4(FANCL):c.46C>T (p.Leu16=)
|
|
|
|
NM_018062.4(FANCL):c.471+13T>C
|
|
|
|
NM_018062.4(FANCL):c.471+16A>G
|
rs1026741275
|
|
|
NM_018062.4(FANCL):c.471+1G>A
|
|
|
|
NM_018062.4(FANCL):c.471+2T>C
|
|
|
|
NM_018062.4(FANCL):c.472-11T>C
|
|
|
|
NM_018062.4(FANCL):c.472-14T>C
|
rs371196539
|
|
|
NM_018062.4(FANCL):c.472-15A>G
|
rs374750427
|
|
|
NM_018062.4(FANCL):c.472-15A>T
|
rs374750427
|
|
|
NM_018062.4(FANCL):c.472-18G>A
|
|
|
|
NM_018062.4(FANCL):c.472-5A>G
|
|
|
|
NM_018062.4(FANCL):c.472-6T>A
|
|
|
|
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
|
|
|
|
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)
|
rs1689679880
|
|
|
NM_018062.4(FANCL):c.476C>T (p.Pro159Leu)
|
|
|
|
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr)
|
rs2105101201
|
|
|
NM_018062.4(FANCL):c.47T>G (p.Leu16Arg)
|
|
|
|
NM_018062.4(FANCL):c.480A>G (p.Ala160=)
|
|
|
|
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys)
|
rs2105100994
|
|
|
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
|
|
|
|
NM_018062.4(FANCL):c.507T>C (p.Phe169=)
|
rs1423808735
|
|
|
NM_018062.4(FANCL):c.513T>C (p.Val171=)
|
|
|
|
NM_018062.4(FANCL):c.51C>G (p.Pro17=)
|
rs772700022
|
|
|
NM_018062.4(FANCL):c.51C>T (p.Pro17=)
|
|
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
|
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
|
|
|
|
NM_018062.4(FANCL):c.528C>G (p.Ser176=)
|
|
|
|
NM_018062.4(FANCL):c.528C>T (p.Ser176=)
|
rs764969578
|
|
|
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
|
rs1689674094
|
|
|
NM_018062.4(FANCL):c.540+10_540+24del
|
rs770182004
|
|
|
NM_018062.4(FANCL):c.540+13C>T
|
rs1442784677
|
|
|
NM_018062.4(FANCL):c.540+16G>T
|
|
|
|
NM_018062.4(FANCL):c.540+18A>G
|
|
|
|
NM_018062.4(FANCL):c.541-10T>G
|
|
|
|
NM_018062.4(FANCL):c.541-11T>A
|
rs1458588728
|
|
|
NM_018062.4(FANCL):c.541-14C>A
|
rs765321485
|
|
|
NM_018062.4(FANCL):c.541-14C>T
|
|
|
|
NM_018062.4(FANCL):c.541-15T>C
|
rs1685890518
|
|
|
NM_018062.4(FANCL):c.541-15T>G
|
|
|
|
NM_018062.4(FANCL):c.541-18C>G
|
|
|
|
NM_018062.4(FANCL):c.541-2A>C
|
|
|
|
NM_018062.4(FANCL):c.541-4A>G
|
|
|
|
NM_018062.4(FANCL):c.541-5C>T
|
|
|
|
NM_018062.4(FANCL):c.541-5del
|
rs1293206231
|
|
|
NM_018062.4(FANCL):c.541-6dup
|
rs746526500
|
|
|
NM_018062.4(FANCL):c.543C>T (p.Ser181=)
|
|
|
|
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
|
|
|
|
NM_018062.4(FANCL):c.550A>G (p.Ile184Val)
|
rs2104818711
|
|
|
NM_018062.4(FANCL):c.556A>G (p.Ile186Val)
|
rs1685886480
|
|
|
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
|
|
|
|
NM_018062.4(FANCL):c.561T>C (p.Tyr187=)
|
rs1185627493
|
|
|
NM_018062.4(FANCL):c.563G>C (p.Ser188Thr)
|
|
|
|
NM_018062.4(FANCL):c.578C>T (p.Ala193Val)
|
rs2104818267
|
|
|
NM_018062.4(FANCL):c.57C>G (p.Asn19Lys)
|
rs1694517921
|
|
|
NM_018062.4(FANCL):c.57C>T (p.Asn19=)
|
|
|
|
NM_018062.4(FANCL):c.591A>G (p.Leu197=)
|
rs1320380833
|
|
|
NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)
|
|
|
|
NM_018062.4(FANCL):c.608T>C (p.Val203Ala)
|
rs1453411120
|
|
|
NM_018062.4(FANCL):c.608T>G (p.Val203Gly)
|
rs1453411120
|
|
|
NM_018062.4(FANCL):c.60G>A (p.Arg20=)
|
|
|
|
NM_018062.4(FANCL):c.612G>A (p.Met204Ile)
|
|
|
|
NM_018062.4(FANCL):c.614A>C (p.Asp205Ala)
|
|
|
|
NM_018062.4(FANCL):c.614A>G (p.Asp205Gly)
|
|
|
|
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
|
|
|
|
NM_018062.4(FANCL):c.625_627del (p.Glu209del)
|
rs1348381378
|
|
|
NM_018062.4(FANCL):c.626A>G (p.Glu209Gly)
|
|
|
|
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
|
|
|
|
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
|
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
|
|
|
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
|
|
|
|
NM_018062.4(FANCL):c.642T>C (p.Leu214=)
|
|
|
|
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly)
|
rs1360050423
|
|
|
NM_018062.4(FANCL):c.654A>G (p.Lys218=)
|
|
|
|
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
|
|
|
|
NM_018062.4(FANCL):c.659del (p.Pro220fs)
|
|
|
|
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu)
|
rs761742545
|
|
|
NM_018062.4(FANCL):c.663G>C (p.Arg221=)
|
|
|
|
NM_018062.4(FANCL):c.663G>T (p.Arg221=)
|
|
|
|
NM_018062.4(FANCL):c.666T>C (p.Ser222=)
|
|
|
|
NM_018062.4(FANCL):c.671C>A (p.Thr224Lys)
|
rs779439089
|
|
|
NM_018062.4(FANCL):c.676C>T (p.Arg226Cys)
|
|
|
|
NM_018062.4(FANCL):c.677G>T (p.Arg226Leu)
|
|
|
|
NM_018062.4(FANCL):c.680G>C (p.Arg227Thr)
|
|
|
|
NM_018062.4(FANCL):c.682del (p.Ile228fs)
|
|
|
|
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
|
|
|
|
NM_018062.4(FANCL):c.691+8C>T
|
rs1327876704
|
|
|
NM_018062.4(FANCL):c.691+9A>G
|
|
|
|
NM_018062.4(FANCL):c.692-11T>C
|
|
|
|
NM_018062.4(FANCL):c.692-15C>A
|
|
|
|
NM_018062.4(FANCL):c.692-15C>G
|
rs370449029
|
|
|
NM_018062.4(FANCL):c.692-18A>C
|
|
|
|
NM_018062.4(FANCL):c.692-4C>A
|
|
|
|
NM_018062.4(FANCL):c.692-4C>G
|
|
|
|
NM_018062.4(FANCL):c.692-6T>C
|
rs1685523497
|
|
|
NM_018062.4(FANCL):c.693T>C (p.Gly231=)
|
|
|
|
NM_018062.4(FANCL):c.693T>G (p.Gly231=)
|
rs864622189
|
|
|
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del)
|
rs549637282
|
|
|
NM_018062.4(FANCL):c.699T>C (p.Asn233=)
|
|
|
|
NM_018062.4(FANCL):c.702T>C (p.Val234=)
|
|
|
|
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro)
|
rs1383696633
|
|
|
NM_018062.4(FANCL):c.705C>T (p.Ser235=)
|
rs1553435677
|
|
|
NM_018062.4(FANCL):c.719T>C (p.Val240Ala)
|
rs1195674676
|
|
|
NM_018062.4(FANCL):c.726C>A (p.Pro242=)
|
|
|
|
NM_018062.4(FANCL):c.727A>C (p.Arg243=)
|
rs941555289
|
|
|
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
|
|
|
|
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile)
|
rs2104800049
|
|
|
NM_018062.4(FANCL):c.739_740dup (p.Met247fs)
|
rs1685514075
|
|
|
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
|
|
|
|
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu)
|
rs780414432
|
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
|
NM_018062.4(FANCL):c.75T>C (p.Tyr25=)
|
|
|
|
NM_018062.4(FANCL):c.760C>T (p.Leu254Phe)
|
rs1331385236
|
|
|
NM_018062.4(FANCL):c.763G>A (p.Gly255Arg)
|
rs2104799685
|
|
|
NM_018062.4(FANCL):c.767C>G (p.Ala256Gly)
|
rs781438290
|
|
|
NM_018062.4(FANCL):c.768T>C (p.Ala256=)
|
|
|
|
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln)
|
rs1694515857
|
|
|
NM_018062.4(FANCL):c.775+10C>G
|
rs751857451
|
|
|
NM_018062.4(FANCL):c.775+10C>T
|
|
|
|
NM_018062.4(FANCL):c.775+11T>G
|
|
|
|
NM_018062.4(FANCL):c.775+2T>C
|
|
|
|
NM_018062.4(FANCL):c.775+3A>G
|
rs975755966
|
|
|
NM_018062.4(FANCL):c.775+6A>G
|
|
|
|
NM_018062.4(FANCL):c.776-10del
|
rs374236117
|
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
|
NM_018062.4(FANCL):c.776-11_776-10dup
|
rs374236117
|
|
|
NM_018062.4(FANCL):c.776-13_776-10del
|
rs374236117
|
|
|
NM_018062.4(FANCL):c.776-6C>G
|
rs1359670933
|
|
|
NM_018062.4(FANCL):c.776-8A>T
|
rs753745302
|
|
|
NM_018062.4(FANCL):c.776-8dup
|
|
|
|
NM_018062.4(FANCL):c.776-9A>T
|
rs1685446346
|
|
|
NM_018062.4(FANCL):c.786C>T (p.Pro262=)
|
|
|
|
NM_018062.4(FANCL):c.801G>A (p.Leu267=)
|
|
|
|
NM_018062.4(FANCL):c.803G>A (p.Ser268Asn)
|
|
|
|
NM_018062.4(FANCL):c.805A>C (p.Arg269=)
|
|
|
|
NM_018062.4(FANCL):c.80G>T (p.Gly27Val)
|
|
|
|
NM_018062.4(FANCL):c.813_816del (p.His272fs)
|
rs1558735946
|
|
|
NM_018062.4(FANCL):c.814C>G (p.His272Asp)
|
rs1047208127
|
|
|
NM_018062.4(FANCL):c.819G>A (p.Leu273=)
|
|
|
|
NM_018062.4(FANCL):c.81A>C (p.Gly27=)
|
rs1553459821
|
|
|
NM_018062.4(FANCL):c.821+1G>A
|
|
|
|
NM_018062.4(FANCL):c.822-12C>T
|
|
|
|
NM_018062.4(FANCL):c.822-13C>G
|
|
|
|
NM_018062.4(FANCL):c.822-15dup
|
rs570217357
|
|
|
NM_018062.4(FANCL):c.822-4T>G
|
rs2104795280
|
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
|
|
|
NM_018062.4(FANCL):c.834T>C (p.Asn278=)
|
|
|
|
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser)
|
rs935920468
|
|
|
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
|
|
|
|
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg)
|
rs2104794990
|
|
|
NM_018062.4(FANCL):c.846A>T (p.Gln282His)
|
rs535158133
|
|
|
NM_018062.4(FANCL):c.858T>C (p.Asp286=)
|
|
|
|
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
|
|
|
|
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser)
|
rs1573513610
|
|
|
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
|
|
|
|
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
|
|
|
|
NM_018062.4(FANCL):c.873T>C (p.Asp291=)
|
rs773117904
|
|
|
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
|
|
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
|
|
|
NM_018062.4(FANCL):c.89C>G (p.Ser30Trp)
|
rs763615183
|
|
|
NM_018062.4(FANCL):c.902C>A (p.Ser301Tyr)
|
|
|
|
NM_018062.4(FANCL):c.902C>G (p.Ser301Cys)
|
rs1405173705
|
|
|
NM_018062.4(FANCL):c.903+12C>T
|
|
|
|
NM_018062.4(FANCL):c.903+14G>A
|
|
|
|
NM_018062.4(FANCL):c.903+14G>T
|
|
|
|
NM_018062.4(FANCL):c.903+16_903+17del
|
|
|
|
NM_018062.4(FANCL):c.903+17T>A
|
|
|
|
NM_018062.4(FANCL):c.903+1G>T
|
|
|
|
NM_018062.4(FANCL):c.903+1_903+2del
|
|
|
|
NM_018062.4(FANCL):c.903+1del
|
|
|
|
NM_018062.4(FANCL):c.903+6T>A
|
|
|
|
NM_018062.4(FANCL):c.904-14T>C
|
|
|
|
NM_018062.4(FANCL):c.904-18_904-15del
|
|
|
|
NM_018062.4(FANCL):c.904-19A>G
|
|
|
|
NM_018062.4(FANCL):c.904-1G>A
|
rs2104783888
|
|
|
NM_018062.4(FANCL):c.904-20T>A
|
|
|
|
NM_018062.4(FANCL):c.904-4G>C
|
|
|
|
NM_018062.4(FANCL):c.904-4G>T
|
rs757211531
|
|
|
NM_018062.4(FANCL):c.904-7T>G
|
rs2104783967
|
|
|
NM_018062.4(FANCL):c.904-8T>G
|
rs2104784017
|
|
|
NM_018062.4(FANCL):c.904-9_904-7del
|
rs757041554
|
|
|
NM_018062.4(FANCL):c.904-9del
|
rs779011743
|
|
|
NM_018062.4(FANCL):c.908T>G (p.Phe303Cys)
|
|
|
|
NM_018062.4(FANCL):c.90G>T (p.Ser30=)
|
|
|
|
NM_018062.4(FANCL):c.911C>T (p.Thr304Ile)
|
rs746454771
|
|
|
NM_018062.4(FANCL):c.913A>G (p.Met305Val)
|
rs553742734
|
|
|
NM_018062.4(FANCL):c.913A>T (p.Met305Leu)
|
rs553742734
|
|
|
NM_018062.4(FANCL):c.914T>C (p.Met305Thr)
|
|
|
|
NM_018062.4(FANCL):c.921T>C (p.Cys307=)
|
rs959857056
|
|
|
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu)
|
rs2104783676
|
|
|
NM_018062.4(FANCL):c.924A>T (p.Gly308=)
|
|
|
|
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>C (p.Tyr311=)
|
|
|
|
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
|
|
|
|
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser)
|
rs2104783559
|
|
|
NM_018062.4(FANCL):c.936T>G (p.Ala312=)
|
|
|
|
NM_018062.4(FANCL):c.93T>C (p.Ala31=)
|
rs563039004
|
|
|
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
|
|
|
|
NM_018062.4(FANCL):c.942A>G (p.Gln314=)
|
rs1163349462
|
|
|
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser)
|
rs1060501896
|
|
|
NM_018062.4(FANCL):c.951T>G (p.Gly317=)
|
|
|
|
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
|
|
|
|
NM_018062.4(FANCL):c.954C>T (p.Thr318=)
|
|
|
|
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
|
|
|
|
NM_018062.4(FANCL):c.96+11A>G
|
|
|
|
NM_018062.4(FANCL):c.96+12G>A
|
|
|
|
NM_018062.4(FANCL):c.96+12G>C
|
|
|
|
NM_018062.4(FANCL):c.96+14G>A
|
|
|
|
NM_018062.4(FANCL):c.96+14_96+15inv
|
|
|
|
NM_018062.4(FANCL):c.96+15G>A
|
|
|
|
NM_018062.4(FANCL):c.96+18G>A
|
|
|
|
NM_018062.4(FANCL):c.96+2T>A
|
|
|
|
NM_018062.4(FANCL):c.96+2T>C
|
|
|
|
NM_018062.4(FANCL):c.96+4C>A
|
rs1279339819
|
|
|
NM_018062.4(FANCL):c.96+6C>T
|
rs544743506
|
|
|
NM_018062.4(FANCL):c.96+8C>G
|
|
|
|
NM_018062.4(FANCL):c.96+8C>T
|
|
|
|
NM_018062.4(FANCL):c.965A>G (p.Gln322Arg)
|
|
|
|
NM_018062.4(FANCL):c.967G>A (p.Val323Met)
|
rs763057392
|
|
|
NM_018062.4(FANCL):c.967G>T (p.Val323Leu)
|
rs763057392
|
|
|
NM_018062.4(FANCL):c.97-13A>T
|
|
|
|
NM_018062.4(FANCL):c.97-14A>C
|
|
|
|
NM_018062.4(FANCL):c.97-14A>G
|
|
|
|
NM_018062.4(FANCL):c.97-15C>T
|
rs2103921401
|
|
|
NM_018062.4(FANCL):c.97-15_97-11del
|
|
|
|
NM_018062.4(FANCL):c.97-20C>G
|
|
|
|
NM_018062.4(FANCL):c.97-4A>T
|
rs2103921076
|
|
|
NM_018062.4(FANCL):c.97-7T>C
|
|
|
|
NM_018062.4(FANCL):c.971G>C (p.Cys324Ser)
|
rs1685176362
|
|
|
NM_018062.4(FANCL):c.974A>T (p.Asp325Val)
|
|
|
|
NM_018062.4(FANCL):c.984G>T (p.Gln328His)
|
|
|
|
NM_020937.4(FANCM):c.1000A>C (p.Ile334Leu)
|
|
|
|
NM_020937.4(FANCM):c.1010C>T (p.Ala337Val)
|
|
|
|
NM_020937.4(FANCM):c.1015del (p.Asp339fs)
|
rs1216266838
|
|
|
NM_020937.4(FANCM):c.1022T>G (p.Phe341Cys)
|
rs756238597
|
|
|
NM_020937.4(FANCM):c.1028A>G (p.Lys343Arg)
|
|
|
|
NM_020937.4(FANCM):c.1037C>A (p.Ser346Tyr)
|
rs2139160555
|
|
|
NM_020937.4(FANCM):c.1051-18C>T
|
rs1312919356
|
|
|
NM_020937.4(FANCM):c.1051-19A>G
|
rs2139168541
|
|
|
NM_020937.4(FANCM):c.1051-2A>T
|
rs1886997142
|
|
|
NM_020937.4(FANCM):c.1051-8T>C
|
|
|
|
NM_020937.4(FANCM):c.1056A>G (p.Ile352Met)
|
rs1376949981
|
|
|
NM_020937.4(FANCM):c.1071C>G (p.Ile357Met)
|
rs780333012
|
|
|
NM_020937.4(FANCM):c.1077A>G (p.Gly359=)
|
rs2139168714
|
|
|
NM_020937.4(FANCM):c.1087A>G (p.Ile363Val)
|
|
|
|
NM_020937.4(FANCM):c.108C>T (p.Gly36=)
|
rs760179836
|
|
|
NM_020937.4(FANCM):c.1097G>A (p.Ser366Asn)
|
|
|
|
NM_020937.4(FANCM):c.1098T>C (p.Ser366=)
|
rs747666389
|
|
|
NM_020937.4(FANCM):c.1100T>C (p.Leu367Ser)
|
rs769814213
|
|
|
NM_020937.4(FANCM):c.1111T>C (p.Tyr371His)
|
|
|
|
NM_020937.4(FANCM):c.1115A>C (p.Glu372Ala)
|
|
|
|
NM_020937.4(FANCM):c.1120T>C (p.Leu374=)
|
|
|
|
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)
|
|
|
|
NM_020937.4(FANCM):c.1127A>G (p.Gln376Arg)
|
rs1284198432
|
|
|
NM_020937.4(FANCM):c.1129A>G (p.Met377Val)
|
|
|
|
NM_020937.4(FANCM):c.1132G>C (p.Gly378Arg)
|
|
|
|
NM_020937.4(FANCM):c.1133G>A (p.Gly378Glu)
|
rs1060501894
|
|
|
NM_020937.4(FANCM):c.1134A>G (p.Gly378=)
|
rs776630034
|
|
|
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter)
|
rs765686151
|
|
|
NM_020937.4(FANCM):c.114C>T (p.Ser38=)
|
rs761652077
|
|
|
NM_020937.4(FANCM):c.1155C>T (p.Phe385=)
|
|
|
|
NM_020937.4(FANCM):c.1163G>T (p.Gly388Val)
|
rs2139169070
|
|
|
NM_020937.4(FANCM):c.1165del (p.Ile389fs)
|
|
|
|
NM_020937.4(FANCM):c.1176A>C (p.Gly392=)
|
rs2139169125
|
|
|
NM_020937.4(FANCM):c.1183+10A>G
|
|
|
|
NM_020937.4(FANCM):c.1183+15A>T
|
rs1264043591
|
|
|
NM_020937.4(FANCM):c.1183+8A>T
|
|
|
|
NM_020937.4(FANCM):c.1183+9T>C
|
rs1009322588
|
|
|
NM_020937.4(FANCM):c.1184-14C>A
|
|
|
|
NM_020937.4(FANCM):c.1184-14C>G
|
|
|
|
NM_020937.4(FANCM):c.1184-15T>A
|
rs2139171197
|
|
|
NM_020937.4(FANCM):c.1184-19C>G
|
|
|
|
NM_020937.4(FANCM):c.1184-19C>T
|
|
|
|
NM_020937.4(FANCM):c.1185G>C (p.Gly395=)
|
rs2139171262
|
|
|
NM_020937.4(FANCM):c.1185G>T (p.Gly395=)
|
|
|
|
NM_020937.4(FANCM):c.1186A>C (p.Met396Leu)
|
rs768041388
|
|
|
NM_020937.4(FANCM):c.1189A>G (p.Thr397Ala)
|
|
|
|
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter)
|
rs1166587869
|
|
|
NM_020937.4(FANCM):c.1197A>G (p.Ser399=)
|
|
|
|
NM_020937.4(FANCM):c.1200A>G (p.Lys400=)
|
rs905295349
|
|
|
NM_020937.4(FANCM):c.1208T>C (p.Leu403Pro)
|
rs1887059226
|
|
|
NM_020937.4(FANCM):c.120G>T (p.Ala40=)
|
rs1885476315
|
|
|
NM_020937.4(FANCM):c.1214G>A (p.Arg405Gln)
|
|
|
|
NM_020937.4(FANCM):c.121C>A (p.Pro41Thr)
|
|
|
|
NM_020937.4(FANCM):c.1221A>G (p.Glu407=)
|
|
|
|
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly)
|
rs1887060432
|
|
|
NM_020937.4(FANCM):c.1224C>G (p.Asp408Glu)
|
rs1887060648
|
|
|
NM_020937.4(FANCM):c.1235T>C (p.Leu412Pro)
|
|
|
|
NM_020937.4(FANCM):c.1236C>G (p.Leu412=)
|
rs1476021559
|
|
|
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer)
|
rs1467556424
|
|
|
NM_020937.4(FANCM):c.1242T>C (p.Asn414=)
|
|
|
|
NM_020937.4(FANCM):c.124T>A (p.Leu42Met)
|
rs947215531
|
|
|
NM_020937.4(FANCM):c.1253G>A (p.Cys418Tyr)
|
rs527417380
|
|
|
NM_020937.4(FANCM):c.1253G>C (p.Cys418Ser)
|
rs527417380
|
|
|
NM_020937.4(FANCM):c.1260T>A (p.Phe420Leu)
|
|
|
|
NM_020937.4(FANCM):c.1260T>G (p.Phe420Leu)
|
|
|
|
NM_020937.4(FANCM):c.1265G>A (p.Arg422His)
|
rs570510177
|
|
|
NM_020937.4(FANCM):c.1268C>T (p.Thr423Ile)
|
|
|
|
NM_020937.4(FANCM):c.126G>A (p.Leu42=)
|
rs2139100378
|
|
|
NM_020937.4(FANCM):c.1270C>G (p.Arg424Gly)
|
|
|
|
NM_020937.4(FANCM):c.1282G>C (p.Ala428Pro)
|
rs1177585747
|
|
|
NM_020937.4(FANCM):c.1283C>T (p.Ala428Val)
|
|
|
|
NM_020937.4(FANCM):c.1285A>T (p.Asn429Tyr)
|
|
|
|
NM_020937.4(FANCM):c.1286del (p.Asn429fs)
|
|
|
|
NM_020937.4(FANCM):c.1295C>T (p.Ser432Phe)
|
rs149379175
|
|
|
NM_020937.4(FANCM):c.1305A>G (p.Gln435=)
|
rs2139171928
|
|
|
NM_020937.4(FANCM):c.1309+10T>G
|
rs374945162
|
|
|
NM_020937.4(FANCM):c.1309+3C>G
|
|
|
|
NM_020937.4(FANCM):c.1309+6del
|
|
|
|
NM_020937.4(FANCM):c.1309+7T>A
|
|
|
|
NM_020937.4(FANCM):c.1310-12G>A
|
|
|
|
NM_020937.4(FANCM):c.1310-12del
|
rs1566738883
|
|
|
NM_020937.4(FANCM):c.1310-13T>A
|
rs749995672
|
|
|
NM_020937.4(FANCM):c.1310-13T>C
|
rs749995672
|
|
|
NM_020937.4(FANCM):c.1310-14T>C
|
|
|
|
NM_020937.4(FANCM):c.1310-18A>G
|
rs2139173703
|
|
|
NM_020937.4(FANCM):c.1310-20A>G
|
|
|
|
NM_020937.4(FANCM):c.1310-7G>C
|
rs2139173742
|
|
|
NM_020937.4(FANCM):c.1310G>C (p.Gly437Ala)
|
rs1290183944
|
|
|
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del)
|
rs771036341
|
|
|
NM_020937.4(FANCM):c.1315A>G (p.Lys439Glu)
|
rs2139173788
|
|
|
NM_020937.4(FANCM):c.1316A>C (p.Lys439Thr)
|
rs1594773798
|
|
|
NM_020937.4(FANCM):c.1317A>C (p.Lys439Asn)
|
rs2139173806
|
|
|
NM_020937.4(FANCM):c.1327T>A (p.Phe443Ile)
|
|
|
|
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter)
|
rs1270367757
|
|
|
NM_020937.4(FANCM):c.1358T>C (p.Leu453Ser)
|
|
|
|
NM_020937.4(FANCM):c.1361AAG[1] (p.Glu455del)
|
rs1566739002
|
|
|
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer)
|
|
|
|
NM_020937.4(FANCM):c.1364A>C (p.Glu455Ala)
|
rs889654019
|
|
|
NM_020937.4(FANCM):c.136G>A (p.Ala46Thr)
|
|
|
|
NM_020937.4(FANCM):c.1371A>T (p.Val457=)
|
rs1407346797
|
|
|
NM_020937.4(FANCM):c.1389A>T (p.Ser463=)
|
rs2139174057
|
|
|
NM_020937.4(FANCM):c.1391G>T (p.Trp464Leu)
|
rs1566739075
|
|
|
NM_020937.4(FANCM):c.1395T>C (p.Asn465=)
|
rs1594773895
|
|
|
NM_020937.4(FANCM):c.1395T>G (p.Asn465Lys)
|
rs1594773895
|
|
|
NM_020937.4(FANCM):c.1396+5G>A
|
rs1887116899
|
|
|
NM_020937.4(FANCM):c.1396+6T>A
|
rs1887117102
|
|
|
NM_020937.4(FANCM):c.1396+9T>A
|
|
|
|
NM_020937.4(FANCM):c.1396G>A (p.Ala466Thr)
|
|
|
|
NM_020937.4(FANCM):c.1397-14A>G
|
|
|
|
NM_020937.4(FANCM):c.1397-14A>T
|
rs757351765
|
|
|
NM_020937.4(FANCM):c.1397-15TA[6]
|
rs112326758
|
|
|
NM_020937.4(FANCM):c.1397-15TA[8]
|
rs112326758
|
|
|
NM_020937.4(FANCM):c.1397-1_1407del
|
|
|
|
NM_020937.4(FANCM):c.1397-8A>G
|
|
|
|
NM_020937.4(FANCM):c.1421G>A (p.Arg474His)
|
|
|
|
NM_020937.4(FANCM):c.1423G>A (p.Asp475Asn)
|
rs1060501892
|
|
|
NM_020937.4(FANCM):c.1423G>T (p.Asp475Tyr)
|
rs1060501892
|
|
|
NM_020937.4(FANCM):c.1428G>T (p.Glu476Asp)
|
|
|
|
NM_020937.4(FANCM):c.1430C>T (p.Thr477Ile)
|
|
|
|
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter)
|
rs552052505
|
|
|
NM_020937.4(FANCM):c.1439T>A (p.Met480Lys)
|
rs776804525
|
|
|
NM_020937.4(FANCM):c.1442TCT[1] (p.Phe482del)
|
rs1163631547
|
|
|
NM_020937.4(FANCM):c.1447T>G (p.Ser483Ala)
|
|
|
|
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala)
|
rs1887398867
|
|
|
NM_020937.4(FANCM):c.1452A>T (p.Ser484=)
|
rs1594777564
|
|
|
NM_020937.4(FANCM):c.1457G>A (p.Arg486Gln)
|
|
|
|
NM_020937.4(FANCM):c.1461T>C (p.Asp487=)
|
|
|
|
NM_020937.4(FANCM):c.1463G>A (p.Ser488Asn)
|
rs1566742540
|
|
|
NM_020937.4(FANCM):c.1466T>C (p.Val489Ala)
|
rs1887401440
|
|
|
NM_020937.4(FANCM):c.1472A>G (p.Glu491Gly)
|
rs2139186360
|
|
|
NM_020937.4(FANCM):c.147G>A (p.Gln49=)
|
rs1250039443
|
|
|
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter)
|
rs2139186499
|
|
|
NM_020937.4(FANCM):c.14A>G (p.Gln5Arg)
|
|
|
|
NM_020937.4(FANCM):c.1501C>G (p.Pro501Ala)
|
rs1887404285
|
|
|
NM_020937.4(FANCM):c.1503A>C (p.Pro501=)
|
rs2139186592
|
|
|
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter)
|
|
|
|
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs)
|
|
|
|
NM_020937.4(FANCM):c.1511G>C (p.Arg504Thr)
|
rs1023546372
|
|
|
NM_020937.4(FANCM):c.1518G>A (p.Met506Ile)
|
rs1236513030
|
|
|
NM_020937.4(FANCM):c.1521T>G (p.Thr507=)
|
rs1444475815
|
|
|
NM_020937.4(FANCM):c.1528G>T (p.Gly510Cys)
|
rs146291619
|
|
|
NM_020937.4(FANCM):c.1533T>A (p.His511Gln)
|
rs1887408716
|
|
|
NM_020937.4(FANCM):c.1536C>G (p.Ala512=)
|
|
|
|
NM_020937.4(FANCM):c.1539A>G (p.Ser513=)
|
rs886050499
|
|
|
NM_020937.4(FANCM):c.1540G>C (p.Gly514Arg)
|
|
|
|
NM_020937.4(FANCM):c.1551G>C (p.Thr517=)
|
rs139535827
|
|
|
NM_020937.4(FANCM):c.1560del (p.Phe520fs)
|
rs2139186964
|
|
|
NM_020937.4(FANCM):c.1563C>A (p.Thr521=)
|
rs775472302
|
|
|
NM_020937.4(FANCM):c.1565A>C (p.Gln522Pro)
|
rs371569048
|
|
|
NM_020937.4(FANCM):c.1577T>A (p.Leu526Gln)
|
rs766715021
|
|
|
NM_020937.4(FANCM):c.1577T>C (p.Leu526Pro)
|
rs766715021
|
|
|
NM_020937.4(FANCM):c.157G>A (p.Asp53Asn)
|
|
|
|
NM_020937.4(FANCM):c.1581+14G>C
|
rs781169191
|
|
|
NM_020937.4(FANCM):c.1581+15A>G
|
rs1199408690
|
|
|
NM_020937.4(FANCM):c.1581+19G>T
|
|
|
|
NM_020937.4(FANCM):c.1581+1G>A
|
rs373430198
|
|
|
NM_020937.4(FANCM):c.1581+30_1581+35del
|
|
|
|
NM_020937.4(FANCM):c.1581+7_1581+9del
|
rs1887415979
|
|
|
NM_020937.4(FANCM):c.1582-13G>A
|
|
|
|
NM_020937.4(FANCM):c.1582-16A>C
|
rs201905147
|
|
|
NM_020937.4(FANCM):c.1582-16A>G
|
|
|
|
NM_020937.4(FANCM):c.1584A>G (p.Val528=)
|
rs1158678939
|
|
|
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter)
|
rs1447482674
|
|
|
NM_020937.4(FANCM):c.1599T>C (p.Arg533=)
|
|
|
|
NM_020937.4(FANCM):c.1603G>A (p.Gly535Ser)
|
rs757592514
|
|
|
NM_020937.4(FANCM):c.1607G>T (p.Gly536Val)
|
|
|
|
NM_020937.4(FANCM):c.160G>C (p.Asp54His)
|
|
|
|
NM_020937.4(FANCM):c.1617G>A (p.Thr539=)
|
rs779563169
|
|
|
NM_020937.4(FANCM):c.161ATG[1] (p.Asp55del)
|
rs1566716075
|
|
|
NM_020937.4(FANCM):c.1628C>T (p.Thr543Ile)
|
rs1887816758
|
|
|
NM_020937.4(FANCM):c.1638T>C (p.Gly546=)
|
|
|
|
NM_020937.4(FANCM):c.1646G>A (p.Gly549Asp)
|
|
|
|
NM_020937.4(FANCM):c.164A>T (p.Asp55Val)
|
rs1255434449
|
|
|
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del)
|
rs866897480
|
|
|
NM_020937.4(FANCM):c.1665T>C (p.Val555=)
|
|
|
|
NM_020937.4(FANCM):c.1675A>G (p.Ile559Val)
|
|
|
|
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs)
|
rs1887822022
|
|
|
NM_020937.4(FANCM):c.1678T>C (p.Cys560Arg)
|
rs2139204843
|
|
|
NM_020937.4(FANCM):c.1688C>T (p.Ser563Phe)
|
rs1313731290
|
|
|
NM_020937.4(FANCM):c.1690C>A (p.Gln564Lys)
|
|
|
|
NM_020937.4(FANCM):c.1701A>C (p.Pro567=)
|
rs2139205029
|
|
|
NM_020937.4(FANCM):c.1701A>T (p.Pro567=)
|
|
|
|
NM_020937.4(FANCM):c.1705C>A (p.Arg569Ser)
|
rs1388696715
|
|
|
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys)
|
rs1388696715
|
|
|
NM_020937.4(FANCM):c.1709T>C (p.Leu570Pro)
|
rs757831397
|
|
|
NM_020937.4(FANCM):c.1711G>A (p.Val571Ile)
|
rs1887826018
|
|
|
NM_020937.4(FANCM):c.1713A>C (p.Val571=)
|
|
|
|
NM_020937.4(FANCM):c.1718G>A (p.Arg573Gln)
|
|
|
|
NM_020937.4(FANCM):c.172C>T (p.Leu58Phe)
|
rs1555358404
|
|
|
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln)
|
rs1887827994
|
|
|
NM_020937.4(FANCM):c.1747G>A (p.Gly583Ser)
|
|
|
|
NM_020937.4(FANCM):c.1763T>G (p.Ile588Ser)
|
|
|
|
NM_020937.4(FANCM):c.1770T>C (p.Ser590=)
|
rs1266191069
|
|
|
NM_020937.4(FANCM):c.1771G>A (p.Glu591Lys)
|
|
|
|
NM_020937.4(FANCM):c.1778G>A (p.Arg593Gln)
|
rs1887831277
|
|
|
NM_020937.4(FANCM):c.177C>T (p.Val59=)
|
rs2139100946
|
|
|
NM_020937.4(FANCM):c.1782G>A (p.Glu594=)
|
rs141109534
|
|
|
NM_020937.4(FANCM):c.1783G>A (p.Glu595Lys)
|
rs568513434
|
|
|
NM_020937.4(FANCM):c.1786C>A (p.Arg596Ser)
|
rs765671208
|
|
|
NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs)
|
rs1887832125
|
|
|
NM_020937.4(FANCM):c.1787G>A (p.Arg596His)
|
rs1325033142
|
|
|
NM_020937.4(FANCM):c.1788+6T>G
|
rs2139205570
|
|
|
NM_020937.4(FANCM):c.1795A>T (p.Asn599Tyr)
|
|
|
|
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter)
|
rs778744393
|
|
|
NM_020937.4(FANCM):c.179C>T (p.Ala60Val)
|
rs200717151
|
|
|
NM_020937.4(FANCM):c.17G>T (p.Arg6Ile)
|
rs1464500995
|
|
|
NM_020937.4(FANCM):c.1808C>A (p.Ser603Tyr)
|
rs1888020761
|
|
|
NM_020937.4(FANCM):c.180G>A (p.Ala60=)
|
|
|
|
NM_020937.4(FANCM):c.1810A>G (p.Asn604Asp)
|
|
|
|
NM_020937.4(FANCM):c.1814A>G (p.Lys605Arg)
|
|
|
|
NM_020937.4(FANCM):c.1826A>G (p.Tyr609Cys)
|
|
|
|
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs)
|
rs1888023074
|
|
|
NM_020937.4(FANCM):c.182C>G (p.Ala61Gly)
|
|
|
|
NM_020937.4(FANCM):c.183G>A (p.Ala61=)
|
|
|
|
NM_020937.4(FANCM):c.1841G>C (p.Ser614Thr)
|
rs1888024744
|
|
|
NM_020937.4(FANCM):c.1844del (p.Asn615fs)
|
rs2139214355
|
|
|
NM_020937.4(FANCM):c.1847G>C (p.Arg616Thr)
|
rs2139214385
|
|
|
NM_020937.4(FANCM):c.1851G>A (p.Gln617=)
|
|
|
|
NM_020937.4(FANCM):c.1862T>A (p.Phe621Tyr)
|
rs2139214525
|
|
|
NM_020937.4(FANCM):c.1866C>T (p.Tyr622=)
|
rs2139214549
|
|
|
NM_020937.4(FANCM):c.1871G>A (p.Arg624Lys)
|
|
|
|
NM_020937.4(FANCM):c.1876C>T (p.Pro626Ser)
|
rs1462865463
|
|
|
NM_020937.4(FANCM):c.1879C>A (p.Arg627=)
|
rs374626826
|
|
|
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln)
|
rs777379515
|
|
|
NM_020937.4(FANCM):c.1882A>C (p.Met628Leu)
|
rs1888029552
|
|
|
NM_020937.4(FANCM):c.1892A>T (p.Asp631Val)
|
|
|
|
NM_020937.4(FANCM):c.189G>T (p.Glu63Asp)
|
rs1885484309
|
|
|
NM_020937.4(FANCM):c.1911A>G (p.Leu637=)
|
rs2139214829
|
|
|
NM_020937.4(FANCM):c.1913A>G (p.His638Arg)
|
rs2139214853
|
|
|
NM_020937.4(FANCM):c.1914C>G (p.His638Gln)
|
|
|
|
NM_020937.4(FANCM):c.1916A>G (p.Lys639Arg)
|
rs2139214881
|
|
|
NM_020937.4(FANCM):c.1922T>A (p.Phe641Tyr)
|
rs2139214923
|
|
|
NM_020937.4(FANCM):c.1924A>G (p.Ile642Val)
|
rs1555363268
|
|
|
NM_020937.4(FANCM):c.1931A>G (p.His644Arg)
|
|
|
|
NM_020937.4(FANCM):c.1932T>C (p.His644=)
|
|
|
|
NM_020937.4(FANCM):c.1933G>A (p.Gly645Ser)
|
|
|
|
NM_020937.4(FANCM):c.1933G>C (p.Gly645Arg)
|
|
|
|
NM_020937.4(FANCM):c.1934G>A (p.Gly645Asp)
|
|
|
|
NM_020937.4(FANCM):c.1942G>A (p.Glu648Lys)
|
rs2139215069
|
|
|
NM_020937.4(FANCM):c.1944A>G (p.Glu648=)
|
|
|
|
NM_020937.4(FANCM):c.1951A>C (p.Lys651Gln)
|
rs774816428
|
|
|
NM_020937.4(FANCM):c.1954C>G (p.Pro652Ala)
|
rs945079138
|
|
|
NM_020937.4(FANCM):c.1958C>G (p.Ser653Cys)
|
rs1888036983
|
|
|
NM_020937.4(FANCM):c.195G>A (p.Glu65=)
|
rs1885485132
|
|
|
NM_020937.4(FANCM):c.1976A>T (p.Lys659Met)
|
rs1888039727
|
|
|
NM_020937.4(FANCM):c.1981T>G (p.Ser661Ala)
|
|
|
|
NM_020937.4(FANCM):c.1982C>T (p.Ser661Phe)
|
|
|
|
NM_020937.4(FANCM):c.1984A>G (p.Ile662Val)
|
rs1175276940
|
|
|
NM_020937.4(FANCM):c.1986C>T (p.Ile662=)
|
rs757122378
|
|
|
NM_020937.4(FANCM):c.1992C>A (p.Ser664=)
|
|
|
|
NM_020937.4(FANCM):c.1995T>C (p.Tyr665=)
|
|
|
|
NM_020937.4(FANCM):c.1A>G (p.Met1Val)
|
rs752141076
|
|
|
NM_020937.4(FANCM):c.2002+12T>C
|
|
|
|
NM_020937.4(FANCM):c.2002+16A>G
|
rs370879109
|
|
|
NM_020937.4(FANCM):c.2003-5T>G
|
rs2139226103
|
|
|
NM_020937.4(FANCM):c.2012A>G (p.Gln671Arg)
|
rs1888274919
|
|
|
NM_020937.4(FANCM):c.2024A>G (p.Lys675Arg)
|
rs1888275563
|
|
|
NM_020937.4(FANCM):c.2025G>A (p.Lys675=)
|
rs1888275752
|
|
|
NM_020937.4(FANCM):c.2029G>A (p.Asp677Asn)
|
rs1888276122
|
|
|
NM_020937.4(FANCM):c.202T>C (p.Leu68=)
|
|
|
|
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)
|
|
|
|
NM_020937.4(FANCM):c.2037C>T (p.Phe679=)
|
rs2139226277
|
|
|
NM_020937.4(FANCM):c.2040A>T (p.Leu680Phe)
|
|
|
|
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs)
|
rs777996811
|
|
|
NM_020937.4(FANCM):c.2041T>C (p.Ser681Pro)
|
|
|
|
NM_020937.4(FANCM):c.2046A>G (p.Glu682=)
|
rs201216865
|
|
|
NM_020937.4(FANCM):c.2046A>T (p.Glu682Asp)
|
|
|
|
NM_020937.4(FANCM):c.2049A>T (p.Glu683Asp)
|
rs1888277477
|
|
|
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)
|
|
|
|
NM_020937.4(FANCM):c.2053T>C (p.Phe685Leu)
|
|
|
|
NM_020937.4(FANCM):c.2053T>G (p.Phe685Val)
|
rs772645088
|
|
|
NM_020937.4(FANCM):c.2058A>C (p.Lys686Asn)
|
rs1888278178
|
|
|
NM_020937.4(FANCM):c.2062T>C (p.Trp688Arg)
|
rs1888278549
|
|
|
NM_020937.4(FANCM):c.2063G>C (p.Trp688Ser)
|
rs2139226471
|
|
|
NM_020937.4(FANCM):c.2064G>C (p.Trp688Cys)
|
|
|
|
NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)
|
|
|
|
NM_020937.4(FANCM):c.2078G>A (p.Arg693Lys)
|
|
|
|
NM_020937.4(FANCM):c.2088C>T (p.Asp696=)
|
rs2139226635
|
|
|
NM_020937.4(FANCM):c.2089A>G (p.Ser697Gly)
|
|
|
|
NM_020937.4(FANCM):c.2104_2105delinsAG (p.Glu702Arg)
|
|
|
|
NM_020937.4(FANCM):c.2107A>T (p.Ile703Leu)
|
|
|
|
NM_020937.4(FANCM):c.2108T>G (p.Ile703Arg)
|
rs1594792069
|
|
|
NM_020937.4(FANCM):c.2108dup (p.Thr704fs)
|
|
|
|
NM_020937.4(FANCM):c.2110A>G (p.Thr704Ala)
|
rs1888283068
|
|
|
NM_020937.4(FANCM):c.2115G>A (p.Leu705=)
|
rs1279241709
|
|
|
NM_020937.4(FANCM):c.2122G>A (p.Val708Ile)
|
rs1888284033
|
|
|
NM_020937.4(FANCM):c.2135_2140dup (p.Leu713_Gln714insProLeu)
|
|
|
|
NM_020937.4(FANCM):c.2138T>C (p.Leu713Ser)
|
|
|
|
NM_020937.4(FANCM):c.2138del (p.Leu713fs)
|
rs1594792135
|
|
|
NM_020937.4(FANCM):c.2140C>G (p.Gln714Glu)
|
|
|
|
NM_020937.4(FANCM):c.2148G>A (p.Glu716=)
|
|
|
|
NM_020937.4(FANCM):c.214A>G (p.Asn72Asp)
|
|
|
|
NM_020937.4(FANCM):c.2160+12A>G
|
rs1888288038
|
|
|
NM_020937.4(FANCM):c.2160+9A>G
|
rs947000515
|
|
|
NM_020937.4(FANCM):c.2161-11A>T
|
|
|
|
NM_020937.4(FANCM):c.2161-4dup
|
rs2139234396
|
|
|
NM_020937.4(FANCM):c.2161-5T>C
|
rs2139234390
|
|
|
NM_020937.4(FANCM):c.2161-7A>G
|
|
|
|
NM_020937.4(FANCM):c.2162C>G (p.Ala721Gly)
|
rs1479368252
|
|
|
NM_020937.4(FANCM):c.2162C>T (p.Ala721Val)
|
|
|
|
NM_020937.4(FANCM):c.2164C>G (p.Gln722Glu)
|
|
|
|
NM_020937.4(FANCM):c.2167G>A (p.Glu723Lys)
|
|
|
|
NM_020937.4(FANCM):c.2169A>G (p.Glu723=)
|
|
|
|
NM_020937.4(FANCM):c.2185C>T (p.His729Tyr)
|
|
|
|
NM_020937.4(FANCM):c.2190A>T (p.Gln730His)
|
rs117392855
|
|
|
NM_020937.4(FANCM):c.2191C>T (p.Leu731Phe)
|
|
|
|
NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs)
|
rs762570903
|
|
|
NM_020937.4(FANCM):c.219C>A (p.Gly73=)
|
rs111252426
|
|
|
NM_020937.4(FANCM):c.219C>G (p.Gly73=)
|
|
|
|
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer)
|
|
|
|
NM_020937.4(FANCM):c.2203G>C (p.Glu735Gln)
|
|
|
|
NM_020937.4(FANCM):c.2205A>T (p.Glu735Asp)
|
rs759456936
|
|
|
NM_020937.4(FANCM):c.2208G>C (p.Trp736Cys)
|
rs2139234709
|
|
|
NM_020937.4(FANCM):c.2212C>T (p.Leu738=)
|
rs2139234741
|
|
|
NM_020937.4(FANCM):c.221G>C (p.Gly74Ala)
|
rs1348903394
|
|
|
NM_020937.4(FANCM):c.2225A>G (p.His742Arg)
|
|
|
|
NM_020937.4(FANCM):c.2234C>G (p.Pro745Arg)
|
rs371756587
|
|
|
NM_020937.4(FANCM):c.2237C>T (p.Thr746Ile)
|
rs773541028
|
|
|
NM_020937.4(FANCM):c.2238A>G (p.Thr746=)
|
|
|
|
NM_020937.4(FANCM):c.2253C>A (p.His751Gln)
|
|
|
|
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.2257G>T (p.Asp753Tyr)
|
rs1888448129
|
|
|
NM_020937.4(FANCM):c.2258A>G (p.Asp753Gly)
|
rs756438082
|
|
|
NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter)
|
|
|
|
NM_020937.4(FANCM):c.2261G>C (p.Arg754Pro)
|
|
|
|
NM_020937.4(FANCM):c.2262A>T (p.Arg754=)
|
|
|
|
NM_020937.4(FANCM):c.2263T>C (p.Cys755Arg)
|
|
|
|
NM_020937.4(FANCM):c.2266C>A (p.Arg756Ser)
|
|
|
|
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu)
|
rs142763060
|
|
|
NM_020937.4(FANCM):c.226T>C (p.Cys76Arg)
|
|
|
|
NM_020937.4(FANCM):c.2283T>G (p.Leu761=)
|
|
|
|
NM_020937.4(FANCM):c.2284A>G (p.Met762Val)
|
rs746984040
|
|
|
NM_020937.4(FANCM):c.2285T>C (p.Met762Thr)
|
rs1359486439
|
|
|
NM_020937.4(FANCM):c.2285T>G (p.Met762Arg)
|
|
|
|
NM_020937.4(FANCM):c.2289A>G (p.Gln763=)
|
rs1431945795
|
|
|
NM_020937.4(FANCM):c.228C>T (p.Cys76=)
|
|
|
|
NM_020937.4(FANCM):c.2302A>G (p.Met768Val)
|
rs1594795205
|
|
|
NM_020937.4(FANCM):c.2304G>A (p.Met768Ile)
|
|
|
|
NM_020937.4(FANCM):c.2305A>G (p.Arg769Gly)
|
rs2139235357
|
|
|
NM_020937.4(FANCM):c.2310C>G (p.His770Gln)
|
rs566935444
|
|
|
NM_020937.4(FANCM):c.2310C>T (p.His770=)
|
rs566935444
|
|
|
NM_020937.4(FANCM):c.2316+11_2316+13del
|
rs2139235450
|
|
|
NM_020937.4(FANCM):c.2316+20T>A
|
|
|
|
NM_020937.4(FANCM):c.2316+2T>A
|
rs2139235421
|
|
|
NM_020937.4(FANCM):c.2316+4G>C
|
|
|
|
NM_020937.4(FANCM):c.2316G>A (p.Glu772=)
|
|
|
|
NM_020937.4(FANCM):c.2317-6T>C
|
|
|
|
NM_020937.4(FANCM):c.2318G>A (p.Gly773Glu)
|
|
|
|
NM_020937.4(FANCM):c.2323T>A (p.Cys775Ser)
|
|
|
|
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg)
|
rs1181869875
|
|
|
NM_020937.4(FANCM):c.2333A>C (p.Glu778Ala)
|
rs1888576524
|
|
|
NM_020937.4(FANCM):c.2335T>C (p.Leu779=)
|
rs1888576727
|
|
|
NM_020937.4(FANCM):c.2336dup (p.Leu779fs)
|
rs1404537579
|
|
|
NM_020937.4(FANCM):c.2340A>G (p.Glu780=)
|
|
|
|
NM_020937.4(FANCM):c.2342T>A (p.Val781Asp)
|
|
|
|
NM_020937.4(FANCM):c.2359del (p.Met787fs)
|
|
|
|
NM_020937.4(FANCM):c.2373C>T (p.Thr791=)
|
rs2139241090
|
|
|
NM_020937.4(FANCM):c.2377A>G (p.Thr793Ala)
|
|
|
|
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser)
|
rs201232194
|
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|
NM_020937.4(FANCM):c.2379A>G (p.Thr793=)
|
rs781017322
|
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NM_020937.4(FANCM):c.2380T>C (p.Phe794Leu)
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NM_020937.4(FANCM):c.23T>A (p.Leu8His)
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NM_020937.4(FANCM):c.2409T>C (p.Asn803=)
|
rs2139241288
|
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NM_020937.4(FANCM):c.240C>T (p.Gly80=)
|
rs1254073558
|
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NM_020937.4(FANCM):c.2420A>G (p.Asp807Gly)
|
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NM_020937.4(FANCM):c.2423C>A (p.Thr808Asn)
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NM_020937.4(FANCM):c.2436C>A (p.His812Gln)
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NM_020937.4(FANCM):c.2436C>G (p.His812Gln)
|
rs1888585906
|
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NM_020937.4(FANCM):c.2442A>G (p.Lys814=)
|
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|
NM_020937.4(FANCM):c.2457G>T (p.Lys819Asn)
|
rs145592211
|
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NM_020937.4(FANCM):c.2460C>T (p.Asn820=)
|
rs199702587
|
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NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser)
|
rs2139241694
|
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NM_020937.4(FANCM):c.2471G>T (p.Gly824Val)
|
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NM_020937.4(FANCM):c.2475T>C (p.Ser825=)
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NM_020937.4(FANCM):c.247T>G (p.Trp83Gly)
|
rs1885493663
|
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NM_020937.4(FANCM):c.2492A>C (p.Glu831Ala)
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NM_020937.4(FANCM):c.2493A>G (p.Glu831=)
|
rs780819683
|
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NM_020937.4(FANCM):c.2498A>C (p.Asp833Ala)
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NM_020937.4(FANCM):c.2501A>C (p.Glu834Ala)
|
rs923735366
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NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)
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NM_020937.4(FANCM):c.2507G>T (p.Cys836Phe)
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NM_020937.4(FANCM):c.251T>G (p.Ile84Ser)
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NM_020937.4(FANCM):c.2527A>T (p.Thr843Ser)
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NM_020937.4(FANCM):c.2529T>C (p.Thr843=)
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NM_020937.4(FANCM):c.2530C>T (p.His844Tyr)
|
rs2139242067
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NM_020937.4(FANCM):c.2539C>A (p.Pro847Thr)
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NM_020937.4(FANCM):c.2545A>G (p.Lys849Glu)
|
rs1007624205
|
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NM_020937.4(FANCM):c.2548A>G (p.Ile850Val)
|
rs2139242181
|
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NM_020937.4(FANCM):c.254A>G (p.Tyr85Cys)
|
rs1555358445
|
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NM_020937.4(FANCM):c.2563A>G (p.Lys855Glu)
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NM_020937.4(FANCM):c.2567A>C (p.Lys856Thr)
|
rs565751937
|
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NM_020937.4(FANCM):c.256C>T (p.Pro86Ser)
|
rs2139101859
|
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NM_020937.4(FANCM):c.2571G>A (p.Val857=)
|
rs2139242297
|
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NM_020937.4(FANCM):c.2578_2580del (p.Glu860del)
|
rs1888597959
|
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NM_020937.4(FANCM):c.2582_2584del (p.Ile861del)
|
rs759751361
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NM_020937.4(FANCM):c.2584A>G (p.Lys862Glu)
|
rs1888599671
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NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs)
|
rs768006618
|
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NM_020937.4(FANCM):c.2589A>G (p.Lys863=)
|
rs1566762145
|
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NM_020937.4(FANCM):c.2589del (p.Asp864fs)
|
rs768006618
|
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NM_020937.4(FANCM):c.2590del (p.Asp864fs)
|
rs1566762159
|
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NM_020937.4(FANCM):c.2599A>G (p.Lys867Glu)
|
rs1888601587
|
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NM_020937.4(FANCM):c.2603A>T (p.Lys868Ile)
|
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NM_020937.4(FANCM):c.2604A>G (p.Lys868=)
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NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs)
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NM_020937.4(FANCM):c.260C>T (p.Thr87Ile)
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NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser)
|
rs538729337
|
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NM_020937.4(FANCM):c.2617G>T (p.Gly873Cys)
|
rs538729337
|
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NM_020937.4(FANCM):c.261C>A (p.Thr87=)
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NM_020937.4(FANCM):c.2624T>C (p.Ile875Thr)
|
rs1594797856
|
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NM_020937.4(FANCM):c.2629dup (p.Ser877fs)
|
rs1888605629
|
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NM_020937.4(FANCM):c.263A>G (p.Asn88Ser)
|
rs1566716433
|
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NM_020937.4(FANCM):c.2642A>G (p.Asp881Gly)
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NM_020937.4(FANCM):c.2661A>C (p.Glu887Asp)
|
rs1888608441
|
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NM_020937.4(FANCM):c.2662A>C (p.Asn888His)
|
rs755964806
|
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NM_020937.4(FANCM):c.2672A>G (p.Gln891Arg)
|
rs753820999
|
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NM_020937.4(FANCM):c.2673A>G (p.Gln891=)
|
rs1314872979
|
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NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly)
|
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NM_020937.4(FANCM):c.2678_2680dup (p.Asp893_Leu894insHis)
|
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NM_020937.4(FANCM):c.267C>T (p.Cys89=)
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NM_020937.4(FANCM):c.2686A>G (p.Asn896Asp)
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NM_020937.4(FANCM):c.2687A>G (p.Asn896Ser)
|
rs2139243150
|
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NM_020937.4(FANCM):c.2693A>G (p.Lys898Arg)
|
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NM_020937.4(FANCM):c.2698A>C (p.Thr900Pro)
|
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NM_020937.4(FANCM):c.2699C>T (p.Thr900Ile)
|
rs1555364640
|
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NM_020937.4(FANCM):c.2705A>C (p.Asp902Ala)
|
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NM_020937.4(FANCM):c.2723C>G (p.Ala908Gly)
|
rs201464936
|
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NM_020937.4(FANCM):c.2723C>T (p.Ala908Val)
|
rs201464936
|
|
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NM_020937.4(FANCM):c.2729G>A (p.Cys910Tyr)
|
rs2139243498
|
|
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NM_020937.4(FANCM):c.272T>C (p.Val91Ala)
|
rs1885496103
|
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NM_020937.4(FANCM):c.2741A>C (p.Glu914Ala)
|
rs774814027
|
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NM_020937.4(FANCM):c.2754A>C (p.Lys918Asn)
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NM_020937.4(FANCM):c.2760G>C (p.Pro920=)
|
rs145506906
|
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NM_020937.4(FANCM):c.2764G>A (p.Val922Met)
|
rs1888619129
|
|
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NM_020937.4(FANCM):c.2784G>T (p.Gln928His)
|
|
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NM_020937.4(FANCM):c.2792A>G (p.Asn931Ser)
|
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NM_020937.4(FANCM):c.2796A>G (p.Lys932=)
|
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NM_020937.4(FANCM):c.2801C>G (p.Thr934Ser)
|
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NM_020937.4(FANCM):c.2801C>T (p.Thr934Ile)
|
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NM_020937.4(FANCM):c.2804G>A (p.Ser935Asn)
|
rs1888621670
|
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NM_020937.4(FANCM):c.2804G>T (p.Ser935Ile)
|
rs1888621670
|
|
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NM_020937.4(FANCM):c.2805T>C (p.Ser935=)
|
rs1049679142
|
|
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NM_020937.4(FANCM):c.2812G>T (p.Ala938Ser)
|
|
|
|
NM_020937.4(FANCM):c.2813C>G (p.Ala938Gly)
|
rs2139244001
|
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NM_020937.4(FANCM):c.2817A>C (p.Gly939=)
|
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|
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer)
|
rs2139244126
|
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NM_020937.4(FANCM):c.2834G>C (p.Gly945Ala)
|
rs1193165722
|
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NM_020937.4(FANCM):c.2837A>G (p.Tyr946Cys)
|
|
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|
NM_020937.4(FANCM):c.2842A>G (p.Ser948Gly)
|
|
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|
NM_020937.4(FANCM):c.2859A>G (p.Lys953=)
|
rs142864437
|
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NM_020937.4(FANCM):c.2861C>G (p.Ser954Cys)
|
rs1594798282
|
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NM_020937.4(FANCM):c.2868A>G (p.Ser956=)
|
|
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|
NM_020937.4(FANCM):c.2869T>C (p.Ser957Pro)
|
rs1888628299
|
|
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NM_020937.4(FANCM):c.2877A>G (p.Leu959=)
|
rs2139244524
|
|
|
NM_020937.4(FANCM):c.2881_2901del (p.Leu961_Leu967del)
|
rs1888630158
|
|
|
NM_020937.4(FANCM):c.2888T>C (p.Phe963Ser)
|
|
|
|
NM_020937.4(FANCM):c.2889C>G (p.Phe963Leu)
|
|
|
|
NM_020937.4(FANCM):c.2892A>G (p.Glu964=)
|
rs1300082794
|
|
|
NM_020937.4(FANCM):c.2896G>C (p.Glu966Gln)
|
rs762791482
|
|
|
NM_020937.4(FANCM):c.2908G>A (p.Val970Ile)
|
|
|
|
NM_020937.4(FANCM):c.2908G>T (p.Val970Phe)
|
rs1245895480
|
|
|
NM_020937.4(FANCM):c.2921A>G (p.Asp974Gly)
|
|
|
|
NM_020937.4(FANCM):c.2922C>A (p.Asp974Glu)
|
rs1888633712
|
|
|
NM_020937.4(FANCM):c.2925A>G (p.Gln975=)
|
rs1594798411
|
|
|
NM_020937.4(FANCM):c.2952A>C (p.Lys984Asn)
|
|
|
|
NM_020937.4(FANCM):c.2953del (p.Glu985fs)
|
|
|
|
NM_020937.4(FANCM):c.2956G>A (p.Val986Ile)
|
rs112345761
|
|
|
NM_020937.4(FANCM):c.2958A>C (p.Val986=)
|
rs779452715
|
|
|
NM_020937.4(FANCM):c.2958A>T (p.Val986=)
|
rs779452715
|
|
|
NM_020937.4(FANCM):c.295T>C (p.Ser99Pro)
|
|
|
|
NM_020937.4(FANCM):c.2967T>C (p.Asn989=)
|
|
|
|
NM_020937.4(FANCM):c.2967T>G (p.Asn989Lys)
|
|
|
|
NM_020937.4(FANCM):c.2971_2972delinsAG (p.Glu991Arg)
|
rs2139245094
|
|
|
NM_020937.4(FANCM):c.2979T>G (p.Phe993Leu)
|
|
|
|
NM_020937.4(FANCM):c.2982dup (p.Ser995fs)
|
|
|
|
NM_020937.4(FANCM):c.2990C>A (p.Ser997Tyr)
|
|
|
|
NM_020937.4(FANCM):c.2991T>G (p.Ser997=)
|
|
|
|
NM_020937.4(FANCM):c.3004A>G (p.Ser1002Gly)
|
rs1594798521
|
|
|
NM_020937.4(FANCM):c.3012C>A (p.Leu1004=)
|
|
|
|
NM_020937.4(FANCM):c.301G>T (p.Ala101Ser)
|
|
|
|
NM_020937.4(FANCM):c.3037A>G (p.Lys1013Glu)
|
rs1888643453
|
|
|
NM_020937.4(FANCM):c.3041G>T (p.Gly1014Val)
|
|
|
|
NM_020937.4(FANCM):c.3054G>T (p.Glu1018Asp)
|
|
|
|
NM_020937.4(FANCM):c.3058T>A (p.Leu1020Met)
|
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|
|
NM_020937.4(FANCM):c.3061C>T (p.Leu1021Phe)
|
|
|
|
NM_020937.4(FANCM):c.3063T>A (p.Leu1021=)
|
|
|
|
NM_020937.4(FANCM):c.3064T>C (p.Phe1022Leu)
|
|
|
|
NM_020937.4(FANCM):c.3065T>C (p.Phe1022Ser)
|
rs1263906591
|
|
|
NM_020937.4(FANCM):c.3066C>T (p.Phe1022=)
|
rs1444147003
|
|
|
NM_020937.4(FANCM):c.306T>C (p.Ala102=)
|
|
|
|
NM_020937.4(FANCM):c.3072C>G (p.Pro1024=)
|
rs749180096
|
|
|
NM_020937.4(FANCM):c.3075T>C (p.Cys1025=)
|
rs1237374207
|
|
|
NM_020937.4(FANCM):c.307C>G (p.Leu103Val)
|
rs768136056
|
|
|
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
|
|
|
|
NM_020937.4(FANCM):c.3089G>A (p.Arg1030Gln)
|
rs1594798699
|
|
|
NM_020937.4(FANCM):c.3092G>T (p.Ser1031Ile)
|
rs1176625946
|
|
|
NM_020937.4(FANCM):c.3095A>G (p.Asp1032Gly)
|
rs776989238
|
|
|
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val)
|
rs776989238
|
|
|
NM_020937.4(FANCM):c.3102C>G (p.Cys1034Trp)
|
|
|
|
NM_020937.4(FANCM):c.3103A>C (p.Thr1035Pro)
|
rs1594798747
|
|
|
NM_020937.4(FANCM):c.3103A>T (p.Thr1035Ser)
|
|
|
|
NM_020937.4(FANCM):c.3111G>C (p.Leu1037Phe)
|
rs2139246120
|
|
|
NM_020937.4(FANCM):c.3113T>C (p.Leu1038Pro)
|
|
|
|
NM_020937.4(FANCM):c.3134C>T (p.Ser1045Phe)
|
|
|
|
NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)
|
|
|
|
NM_020937.4(FANCM):c.3149A>T (p.Glu1050Val)
|
|
|
|
NM_020937.4(FANCM):c.3152T>C (p.Leu1051Ser)
|
rs1888655331
|
|
|
NM_020937.4(FANCM):c.3159A>G (p.Ser1053=)
|
|
|
|
NM_020937.4(FANCM):c.3166T>G (p.Cys1056Gly)
|
|
|
|
NM_020937.4(FANCM):c.3177T>C (p.Tyr1059=)
|
|
|
|
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu)
|
rs1171533572
|
|
|
NM_020937.4(FANCM):c.3190del (p.Ser1064fs)
|
rs778191984
|
|
|
NM_020937.4(FANCM):c.3191G>A (p.Ser1064Asn)
|
|
|
|
NM_020937.4(FANCM):c.3205A>G (p.Ile1069Val)
|
rs2139246678
|
|
|
NM_020937.4(FANCM):c.3206T>C (p.Ile1069Thr)
|
|
|
|
NM_020937.4(FANCM):c.3213T>C (p.Asn1071=)
|
|
|
|
NM_020937.4(FANCM):c.3218A>G (p.Asn1073Ser)
|
rs1888660531
|
|
|
NM_020937.4(FANCM):c.3221T>C (p.Ile1074Thr)
|
|
|
|
NM_020937.4(FANCM):c.3224C>A (p.Ser1075Tyr)
|
rs1888661185
|
|
|
NM_020937.4(FANCM):c.3224C>T (p.Ser1075Phe)
|
|
|
|
NM_020937.4(FANCM):c.3227A>G (p.Asp1076Gly)
|
|
|
|
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs)
|
|
|
|
NM_020937.4(FANCM):c.3238C>G (p.Leu1080Val)
|
rs1888662319
|
|
|
NM_020937.4(FANCM):c.3238C>T (p.Leu1080Phe)
|
|
|
|
NM_020937.4(FANCM):c.3240CTGTGA[1] (p.1081CD[1])
|
rs1888662522
|
|
|
NM_020937.4(FANCM):c.3242G>A (p.Cys1081Tyr)
|
rs1273042421
|
|
|
NM_020937.4(FANCM):c.3244G>A (p.Asp1082Asn)
|
rs2139246974
|
|
|
NM_020937.4(FANCM):c.3247T>C (p.Cys1083Arg)
|
rs1594798970
|
|
|
NM_020937.4(FANCM):c.324G>A (p.Leu108=)
|
rs1885502120
|
|
|
NM_020937.4(FANCM):c.3254T>C (p.Val1085Ala)
|
|
|
|
NM_020937.4(FANCM):c.3258T>A (p.His1086Gln)
|
rs2139247109
|
|
|
NM_020937.4(FANCM):c.3261A>T (p.Lys1087Asn)
|
rs1888664392
|
|
|
NM_020937.4(FANCM):c.3263A>G (p.His1088Arg)
|
|
|
|
NM_020937.4(FANCM):c.3268C>G (p.Gln1090Glu)
|
rs752061240
|
|
|
NM_020937.4(FANCM):c.326T>C (p.Val109Ala)
|
rs1594750831
|
|
|
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter)
|
rs1555364837
|
|
|
NM_020937.4(FANCM):c.3292A>G (p.Asn1098Asp)
|
rs1888666556
|
|
|
NM_020937.4(FANCM):c.3297T>G (p.Arg1099=)
|
|
|
|
NM_020937.4(FANCM):c.3300T>C (p.Val1100=)
|
rs2139247394
|
|
|
NM_020937.4(FANCM):c.3303A>C (p.Gln1101His)
|
rs1403821078
|
|
|
NM_020937.4(FANCM):c.3313A>G (p.Ser1105Gly)
|
rs777264888
|
|
|
NM_020937.4(FANCM):c.3319G>A (p.Ala1107Thr)
|
rs996666429
|
|
|
NM_020937.4(FANCM):c.3321A>G (p.Ala1107=)
|
rs2139247556
|
|
|
NM_020937.4(FANCM):c.3323A>G (p.Gln1108Arg)
|
rs376223629
|
|
|
NM_020937.4(FANCM):c.3327T>A (p.Asn1109Lys)
|
|
|
|
NM_020937.4(FANCM):c.3331G>A (p.Val1111Ile)
|
|
|
|
NM_020937.4(FANCM):c.3344A>G (p.Asn1115Ser)
|
|
|
|
NM_020937.4(FANCM):c.3360C>T (p.Asn1120=)
|
rs2139247801
|
|
|
NM_020937.4(FANCM):c.3363T>C (p.Ser1121=)
|
rs746805378
|
|
|
NM_020937.4(FANCM):c.3366C>A (p.Asp1122Glu)
|
rs768546653
|
|
|
NM_020937.4(FANCM):c.3367C>T (p.Leu1123Phe)
|
rs1888672087
|
|
|
NM_020937.4(FANCM):c.3368T>C (p.Leu1123Pro)
|
|
|
|
NM_020937.4(FANCM):c.336T>A (p.Pro112=)
|
rs2139102671
|
|
|
NM_020937.4(FANCM):c.3373G>C (p.Val1125Leu)
|
rs1594799126
|
|
|
NM_020937.4(FANCM):c.3382A>T (p.Thr1128Ser)
|
|
|
|
NM_020937.4(FANCM):c.3384T>G (p.Thr1128=)
|
rs1888673774
|
|
|
NM_020937.4(FANCM):c.3394G>A (p.Glu1132Lys)
|
|
|
|
NM_020937.4(FANCM):c.339C>T (p.Thr113=)
|
rs2139102705
|
|
|
NM_020937.4(FANCM):c.3402G>C (p.Leu1134Phe)
|
rs1888675805
|
|
|
NM_020937.4(FANCM):c.3405G>A (p.Leu1135=)
|
|
|
|
NM_020937.4(FANCM):c.3410T>G (p.Phe1137Cys)
|
rs774431370
|
|
|
NM_020937.4(FANCM):c.3426A>G (p.Thr1142=)
|
rs1888678554
|
|
|
NM_020937.4(FANCM):c.3436G>C (p.Asp1146His)
|
|
|
|
NM_020937.4(FANCM):c.3440T>G (p.Val1147Gly)
|
|
|
|
NM_020937.4(FANCM):c.3442A>G (p.Ser1148Gly)
|
rs1888681289
|
|
|
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs)
|
rs1888681090
|
|
|
NM_020937.4(FANCM):c.3453C>T (p.Pro1151=)
|
|
|
|
NM_020937.4(FANCM):c.3455T>C (p.Leu1152Ser)
|
rs948354347
|
|
|
NM_020937.4(FANCM):c.3459C>T (p.Asn1153=)
|
rs200543364
|
|
|
NM_020937.4(FANCM):c.3460A>G (p.Ser1154Gly)
|
|
|
|
NM_020937.4(FANCM):c.3461G>T (p.Ser1154Ile)
|
|
|
|
NM_020937.4(FANCM):c.3467G>A (p.Ser1156Asn)
|
rs2139248693
|
|
|
NM_020937.4(FANCM):c.3468C>T (p.Ser1156=)
|
rs756947100
|
|
|
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs)
|
rs2139248770
|
|
|
NM_020937.4(FANCM):c.3478C>G (p.Pro1160Ala)
|
|
|
|
NM_020937.4(FANCM):c.3480T>C (p.Pro1160=)
|
rs2139248830
|
|
|
NM_020937.4(FANCM):c.3489C>A (p.Asp1163Glu)
|
|
|
|
NM_020937.4(FANCM):c.3489C>G (p.Asp1163Glu)
|
|
|
|
NM_020937.4(FANCM):c.3494C>G (p.Thr1165Ser)
|
rs200110609
|
|
|
NM_020937.4(FANCM):c.3494_3499dup (p.Ala1166_Ile1167insThrAla)
|
|
|
|
NM_020937.4(FANCM):c.3500T>C (p.Ile1167Thr)
|
rs1888687169
|
|
|
NM_020937.4(FANCM):c.3504T>G (p.Ser1168Arg)
|
rs2139249069
|
|
|
NM_020937.4(FANCM):c.3514C>G (p.Leu1172Val)
|
rs774361836
|
|
|
NM_020937.4(FANCM):c.3517G>A (p.Val1173Ile)
|
rs772176794
|
|
|
NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter)
|
rs2139249281
|
|
|
NM_020937.4(FANCM):c.3525G>A (p.Gln1175=)
|
rs761300333
|
|
|
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His)
|
rs761300333
|
|
|
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His)
|
rs761300333
|
|
|
NM_020937.4(FANCM):c.3539A>G (p.Asp1180Gly)
|
rs2139249394
|
|
|
NM_020937.4(FANCM):c.3546T>G (p.Leu1182=)
|
|
|
|
NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp)
|
rs1375995948
|
|
|
NM_020937.4(FANCM):c.3567A>G (p.Glu1189=)
|
rs923480918
|
|
|
NM_020937.4(FANCM):c.3568C>T (p.Leu1190Phe)
|
rs367682848
|
|
|
NM_020937.4(FANCM):c.3578A>C (p.Gln1193Pro)
|
rs1888695039
|
|
|
NM_020937.4(FANCM):c.3584C>G (p.Thr1195Ser)
|
|
|
|
NM_020937.4(FANCM):c.3586C>T (p.Arg1196Cys)
|
rs1360072407
|
|
|
NM_020937.4(FANCM):c.3594T>C (p.Ala1198=)
|
rs2139249785
|
|
|
NM_020937.4(FANCM):c.3603del (p.Phe1201fs)
|
|
|
|
NM_020937.4(FANCM):c.3606A>G (p.Lys1202=)
|
|
|
|
NM_020937.4(FANCM):c.3613G>A (p.Asp1205Asn)
|
rs936653683
|
|
|
NM_020937.4(FANCM):c.3625G>A (p.Val1209Ile)
|
|
|
|
NM_020937.4(FANCM):c.3626T>C (p.Val1209Ala)
|
|
|
|
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu)
|
rs372276411
|
|
|
NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter)
|
rs372276411
|
|
|
NM_020937.4(FANCM):c.362C>T (p.Ala121Val)
|
rs899740775
|
|
|
NM_020937.4(FANCM):c.3631G>A (p.Glu1211Lys)
|
|
|
|
NM_020937.4(FANCM):c.3639dup (p.Val1214fs)
|
|
|
|
NM_020937.4(FANCM):c.3640G>A (p.Val1214Met)
|
rs1888701877
|
|
|
NM_020937.4(FANCM):c.3650A>C (p.His1217Pro)
|
rs762245674
|
|
|
NM_020937.4(FANCM):c.3653A>G (p.Glu1218Gly)
|
rs2139250247
|
|
|
NM_020937.4(FANCM):c.3654G>C (p.Glu1218Asp)
|
|
|
|
NM_020937.4(FANCM):c.3657T>C (p.Asp1219=)
|
rs2139250297
|
|
|
NM_020937.4(FANCM):c.3659T>G (p.Ile1220Ser)
|
rs2139250318
|
|
|
NM_020937.4(FANCM):c.3662T>C (p.Phe1221Ser)
|
rs1350824740
|
|
|
NM_020937.4(FANCM):c.3663T>C (p.Phe1221=)
|
rs772996800
|
|
|
NM_020937.4(FANCM):c.3664G>C (p.Asp1222His)
|
rs145411480
|
|
|
NM_020937.4(FANCM):c.3669C>T (p.Cys1223=)
|
|
|
|
NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro)
|
|
|
|
NM_020937.4(FANCM):c.3673A>C (p.Arg1225=)
|
rs751089780
|
|
|
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser)
|
rs1566765698
|
|
|
NM_020937.4(FANCM):c.3692C>A (p.Thr1231Asn)
|
rs1555364981
|
|
|
NM_020937.4(FANCM):c.3697G>C (p.Asp1233His)
|
rs1888706777
|
|
|
NM_020937.4(FANCM):c.36G>T (p.Trp12Cys)
|
rs2139099472
|
|
|
NM_020937.4(FANCM):c.3703G>C (p.Gly1235Arg)
|
rs1888706953
|
|
|
NM_020937.4(FANCM):c.3706T>G (p.Phe1236Val)
|
|
|
|
NM_020937.4(FANCM):c.3725A>G (p.Asp1242Gly)
|
rs994282538
|
|
|
NM_020937.4(FANCM):c.3729T>G (p.Asp1243Glu)
|
|
|
|
NM_020937.4(FANCM):c.3732_3735dup (p.Leu1246fs)
|
rs1159078705
|
|
|
NM_020937.4(FANCM):c.3736T>G (p.Leu1246Val)
|
rs1888710046
|
|
|
NM_020937.4(FANCM):c.3743A>G (p.His1248Arg)
|
rs1181209142
|
|
|
NM_020937.4(FANCM):c.3746C>A (p.Thr1249Lys)
|
rs768667842
|
|
|
NM_020937.4(FANCM):c.3747A>G (p.Thr1249=)
|
rs1017919543
|
|
|
NM_020937.4(FANCM):c.374T>C (p.Met125Thr)
|
rs780601895
|
|
|
NM_020937.4(FANCM):c.3752A>G (p.Asp1251Gly)
|
rs1425871684
|
|
|
NM_020937.4(FANCM):c.3753T>C (p.Asp1251=)
|
rs748733630
|
|
|
NM_020937.4(FANCM):c.3759T>C (p.Asn1253=)
|
rs762631403
|
|
|
NM_020937.4(FANCM):c.375G>A (p.Met125Ile)
|
|
|
|
NM_020937.4(FANCM):c.3760A>G (p.Arg1254Gly)
|
|
|
|
NM_020937.4(FANCM):c.3763C>T (p.Pro1255Ser)
|
rs770651053
|
|
|
NM_020937.4(FANCM):c.3767T>G (p.Leu1256Arg)
|
|
|
|
NM_020937.4(FANCM):c.3769GAT[1] (p.Asp1258del)
|
rs2139251128
|
|
|
NM_020937.4(FANCM):c.3780T>C (p.Tyr1260=)
|
|
|
|
NM_020937.4(FANCM):c.3783A>G (p.Gly1261=)
|
|
|
|
NM_020937.4(FANCM):c.3785G>A (p.Arg1262Lys)
|
rs2139251254
|
|
|
NM_020937.4(FANCM):c.3788A>G (p.Tyr1263Cys)
|
|
|
|
NM_020937.4(FANCM):c.3793G>C (p.Glu1265Gln)
|
rs1566766047
|
|
|
NM_020937.4(FANCM):c.3799A>C (p.Lys1267Gln)
|
rs1888716067
|
|
|
NM_020937.4(FANCM):c.3819T>A (p.Asn1273Lys)
|
rs2139251440
|
|
|
NM_020937.4(FANCM):c.3822T>C (p.Tyr1274=)
|
|
|
|
NM_020937.4(FANCM):c.3831T>A (p.Asn1277Lys)
|
rs1888717904
|
|
|
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter)
|
rs1888718087
|
|
|
NM_020937.4(FANCM):c.3834A>G (p.Gln1278=)
|
|
|
|
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs)
|
|
|
|
NM_020937.4(FANCM):c.3856A>G (p.Ser1286Gly)
|
|
|
|
NM_020937.4(FANCM):c.3857G>T (p.Ser1286Ile)
|
|
|
|
NM_020937.4(FANCM):c.385T>C (p.Tyr129His)
|
rs1360033335
|
|
|
NM_020937.4(FANCM):c.3871A>G (p.Ser1291Gly)
|
|
|
|
NM_020937.4(FANCM):c.3873T>C (p.Ser1291=)
|
|
|
|
NM_020937.4(FANCM):c.3875G>A (p.Gly1292Glu)
|
|
|
|
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del)
|
rs1312125043
|
|
|
NM_020937.4(FANCM):c.3883A>G (p.Ile1295Val)
|
rs2139251959
|
|
|
NM_020937.4(FANCM):c.388C>G (p.Arg130Gly)
|
rs758891745
|
|
|
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys)
|
rs758891745
|
|
|
NM_020937.4(FANCM):c.3896A>T (p.Asn1299Ile)
|
rs761637559
|
|
|
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter)
|
rs751795256
|
|
|
NM_020937.4(FANCM):c.389G>A (p.Arg130His)
|
rs751804045
|
|
|
NM_020937.4(FANCM):c.389G>T (p.Arg130Leu)
|
|
|
|
NM_020937.4(FANCM):c.3900A>C (p.Glu1300Asp)
|
|
|
|
NM_020937.4(FANCM):c.3902A>T (p.Asp1301Val)
|
rs1183935509
|
|
|
NM_020937.4(FANCM):c.3907C>A (p.Gln1303Lys)
|
rs369549739
|
|
|
NM_020937.4(FANCM):c.3909G>A (p.Gln1303=)
|
rs1594799961
|
|
|
NM_020937.4(FANCM):c.3916A>G (p.Asn1306Asp)
|
|
|
|
NM_020937.4(FANCM):c.3919T>C (p.Tyr1307His)
|
rs1888726971
|
|
|
NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser)
|
rs143997277
|
|
|
NM_020937.4(FANCM):c.3941C>T (p.Ala1314Val)
|
|
|
|
NM_020937.4(FANCM):c.3950dup (p.Asn1317fs)
|
rs2139252496
|
|
|
NM_020937.4(FANCM):c.3960G>C (p.Leu1320Phe)
|
|
|
|
NM_020937.4(FANCM):c.3962T>C (p.Leu1321Ser)
|
|
|
|
NM_020937.4(FANCM):c.3963A>G (p.Leu1321=)
|
rs2139252605
|
|
|
NM_020937.4(FANCM):c.3964T>G (p.Ser1322Ala)
|
|
|
|
NM_020937.4(FANCM):c.3965C>T (p.Ser1322Phe)
|
rs1594800025
|
|
|
NM_020937.4(FANCM):c.3968C>A (p.Pro1323His)
|
|
|
|
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu)
|
rs1369746830
|
|
|
NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)
|
|
|
|
NM_020937.4(FANCM):c.3977C>T (p.Ser1326Phe)
|
|
|
|
NM_020937.4(FANCM):c.3985del (p.Ser1329fs)
|
|
|
|
NM_020937.4(FANCM):c.3988T>C (p.Leu1330=)
|
rs2139252786
|
|
|
NM_020937.4(FANCM):c.3989T>C (p.Leu1330Ser)
|
|
|
|
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu)
|
rs139382920
|
|
|
NM_020937.4(FANCM):c.3995T>C (p.Val1332Ala)
|
|
|
|
NM_020937.4(FANCM):c.4002A>G (p.Lys1334=)
|
rs2139252929
|
|
|
NM_020937.4(FANCM):c.4005A>G (p.Lys1335=)
|
rs1888735204
|
|
|
NM_020937.4(FANCM):c.4005del (p.Val1336fs)
|
rs746983128
|
|
|
NM_020937.4(FANCM):c.4005dup (p.Val1336fs)
|
rs746983128
|
|
|
NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)
|
|
|
|
NM_020937.4(FANCM):c.4017A>G (p.Thr1339=)
|
|
|
|
NM_020937.4(FANCM):c.4023C>G (p.Leu1341=)
|
rs1594800133
|
|
|
NM_020937.4(FANCM):c.4027A>G (p.Lys1343Glu)
|
rs2139253150
|
|
|
NM_020937.4(FANCM):c.4029A>G (p.Lys1343=)
|
|
|
|
NM_020937.4(FANCM):c.4030T>C (p.Ser1344Pro)
|
rs1888737260
|
|
|
NM_020937.4(FANCM):c.403G>A (p.Gly135Arg)
|
rs1594750987
|
|
|
NM_020937.4(FANCM):c.4045T>A (p.Ser1349Thr)
|
|
|
|
NM_020937.4(FANCM):c.4054A>G (p.Lys1352Glu)
|
rs1888737946
|
|
|
NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)
|
|
|
|
NM_020937.4(FANCM):c.4057A>T (p.Ile1353Leu)
|
|
|
|
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs)
|
|
|
|
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys)
|
rs1302733474
|
|
|
NM_020937.4(FANCM):c.4068A>G (p.Glu1356=)
|
rs1366630408
|
|
|
NM_020937.4(FANCM):c.4069A>G (p.Ile1357Val)
|
rs1555365093
|
|
|
NM_020937.4(FANCM):c.4073T>C (p.Leu1358Pro)
|
|
|
|
NM_020937.4(FANCM):c.4084G>T (p.Asp1362Tyr)
|
|
|
|
NM_020937.4(FANCM):c.4088C>G (p.Ser1363Cys)
|
|
|
|
NM_020937.4(FANCM):c.4090A>G (p.Ser1364Gly)
|
|
|
|
NM_020937.4(FANCM):c.4096G>A (p.Glu1366Lys)
|
rs2139253441
|
|
|
NM_020937.4(FANCM):c.4101dup (p.Val1368fs)
|
rs747974206
|
|
|
NM_020937.4(FANCM):c.4103T>C (p.Val1368Ala)
|
rs958088496
|
|
|
NM_020937.4(FANCM):c.4113A>G (p.Gln1371=)
|
rs757705970
|
|
|
NM_020937.4(FANCM):c.4115G>T (p.Arg1372Ile)
|
rs1888742620
|
|
|
NM_020937.4(FANCM):c.411G>T (p.Val137=)
|
|
|
|
NM_020937.4(FANCM):c.4121A>G (p.Lys1374Arg)
|
rs1888743641
|
|
|
NM_020937.4(FANCM):c.4132A>C (p.Asn1378His)
|
rs1594800247
|
|
|
NM_020937.4(FANCM):c.4143T>G (p.Phe1381Leu)
|
rs2139253752
|
|
|
NM_020937.4(FANCM):c.4145A>G (p.Asp1382Gly)
|
rs2139253766
|
|
|
NM_020937.4(FANCM):c.4145A>T (p.Asp1382Val)
|
|
|
|
NM_020937.4(FANCM):c.4148A>G (p.Tyr1383Cys)
|
|
|
|
NM_020937.4(FANCM):c.414C>G (p.Val138=)
|
rs2139103448
|
|
|
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter)
|
rs776133776
|
|
|
NM_020937.4(FANCM):c.4161T>C (p.Ser1387=)
|
|
|
|
NM_020937.4(FANCM):c.4162C>G (p.Leu1388Val)
|
rs769653358
|
|
|
NM_020937.4(FANCM):c.4162C>T (p.Leu1388=)
|
rs769653358
|
|
|
NM_020937.4(FANCM):c.4163T>C (p.Leu1388Pro)
|
|
|
|
NM_020937.4(FANCM):c.4174A>G (p.Lys1392Glu)
|
|
|
|
NM_020937.4(FANCM):c.417C>T (p.Phe139=)
|
|
|
|
NM_020937.4(FANCM):c.4184G>T (p.Gly1395Val)
|
rs1203349245
|
|
|
NM_020937.4(FANCM):c.4187_4189dup (p.Pro1396_Met1397insThr)
|
rs1888747763
|
|
|
NM_020937.4(FANCM):c.4188A>G (p.Pro1396=)
|
rs2139254003
|
|
|
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter)
|
rs1235515288
|
|
|
NM_020937.4(FANCM):c.419T>C (p.Met140Thr)
|
rs1885514534
|
|
|
NM_020937.4(FANCM):c.420G>A (p.Met140Ile)
|
rs1329485751
|
|
|
NM_020937.4(FANCM):c.4222+15T>C
|
|
|
|
NM_020937.4(FANCM):c.4222+15_4222+16insAT
|
rs1177059971
|
|
|
NM_020937.4(FANCM):c.4222+16T>A
|
rs753893593
|
|
|
NM_020937.4(FANCM):c.4222+19A>G
|
|
|
|
NM_020937.4(FANCM):c.4222+4A>C
|
|
|
|
NM_020937.4(FANCM):c.4223-15A>C
|
rs2139269896
|
|
|
NM_020937.4(FANCM):c.4223-16A>T
|
|
|
|
NM_020937.4(FANCM):c.4223A>G (p.Asp1408Gly)
|
|
|
|
NM_020937.4(FANCM):c.4223A>T (p.Asp1408Val)
|
|
|
|
NM_020937.4(FANCM):c.4225G>A (p.Gly1409Arg)
|
|
|
|
NM_020937.4(FANCM):c.4231TTA[1] (p.Leu1412del)
|
rs1889061790
|
|
|
NM_020937.4(FANCM):c.4246G>A (p.Glu1416Lys)
|
|
|
|
NM_020937.4(FANCM):c.424C>A (p.Pro142Thr)
|
|
|
|
NM_020937.4(FANCM):c.4261G>A (p.Glu1421Lys)
|
rs886050502
|
|
|
NM_020937.4(FANCM):c.426A>C (p.Pro142=)
|
|
|
|
NM_020937.4(FANCM):c.4274G>A (p.Arg1425Lys)
|
rs2139270169
|
|
|
NM_020937.4(FANCM):c.4277A>G (p.Lys1426Arg)
|
|
|
|
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs)
|
|
|
|
NM_020937.4(FANCM):c.427A>G (p.Thr143Ala)
|
|
|
|
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs)
|
|
|
|
NM_020937.4(FANCM):c.4285del (p.Arg1429fs)
|
rs1227066484
|
|
|
NM_020937.4(FANCM):c.4290A>C (p.Ala1430=)
|
|
|
|
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)
|
|
|
|
NM_020937.4(FANCM):c.4304_4305insSVAelement
|
|
|
|
NM_020937.4(FANCM):c.4308C>T (p.Asn1436=)
|
|
|
|
NM_020937.4(FANCM):c.4317+15A>G
|
|
|
|
NM_020937.4(FANCM):c.4317+19_4317+46del
|
|
|
|
NM_020937.4(FANCM):c.4317+7C>G
|
rs1411847222
|
|
|
NM_020937.4(FANCM):c.4317+8A>T
|
rs2139270413
|
|
|
NM_020937.4(FANCM):c.4317+8_4317+16dup
|
|
|
|
NM_020937.4(FANCM):c.4318-13T>G
|
|
|
|
NM_020937.4(FANCM):c.4318-15A>G
|
|
|
|
NM_020937.4(FANCM):c.4318-16dup
|
|
|
|
NM_020937.4(FANCM):c.4318-2A>G
|
|
|
|
NM_020937.4(FANCM):c.4318-6C>T
|
rs1594806015
|
|
|
NM_020937.4(FANCM):c.4318-7_4318-4del
|
|
|
|
NM_020937.4(FANCM):c.4318G>A (p.Asp1440Asn)
|
|
|
|
NM_020937.4(FANCM):c.4319A>G (p.Asp1440Gly)
|
rs2139270979
|
|
|
NM_020937.4(FANCM):c.431A>C (p.Lys144Thr)
|
|
|
|
NM_020937.4(FANCM):c.4320T>G (p.Asp1440Glu)
|
rs2139270994
|
|
|
NM_020937.4(FANCM):c.4329T>C (p.Asn1443=)
|
|
|
|
NM_020937.4(FANCM):c.4342T>A (p.Ser1448Thr)
|
|
|
|
NM_020937.4(FANCM):c.4346C>T (p.Pro1449Leu)
|
|
|
|
NM_020937.4(FANCM):c.4348C>T (p.Leu1450Phe)
|
|
|
|
NM_020937.4(FANCM):c.4352A>T (p.His1451Leu)
|
rs572890751
|
|
|
NM_020937.4(FANCM):c.4353T>A (p.His1451Gln)
|
|
|
|
NM_020937.4(FANCM):c.4360A>G (p.Lys1454Glu)
|
|
|
|
NM_020937.4(FANCM):c.4367G>T (p.Arg1456Leu)
|
rs749332566
|
|
|
NM_020937.4(FANCM):c.4380A>T (p.Ile1460=)
|
|
|
|
NM_020937.4(FANCM):c.4383C>G (p.Asn1461Lys)
|
|
|
|
NM_020937.4(FANCM):c.4386+13C>A
|
|
|
|
NM_020937.4(FANCM):c.4386+14A>G
|
|
|
|
NM_020937.4(FANCM):c.4386+16G>C
|
|
|
|
NM_020937.4(FANCM):c.4386+1G>A
|
rs1889085249
|
|
|
NM_020937.4(FANCM):c.4386+2dup
|
rs1889085424
|
|
|
NM_020937.4(FANCM):c.4387-12G>A
|
rs776419214
|
|
|
NM_020937.4(FANCM):c.4387-16del
|
|
|
|
NM_020937.4(FANCM):c.4387-4A>G
|
rs567206367
|
|
|
NM_020937.4(FANCM):c.4387-5_4387-3del
|
rs1566775466
|
|
|
NM_020937.4(FANCM):c.4387-6T>C
|
rs1889209053
|
|
|
NM_020937.4(FANCM):c.4387-8T>C
|
rs1323174217
|
|
|
NM_020937.4(FANCM):c.438G>A (p.Leu146=)
|
|
|
|
NM_020937.4(FANCM):c.4391A>G (p.Glu1464Gly)
|
rs1889210004
|
|
|
NM_020937.4(FANCM):c.4405G>T (p.Asp1469Tyr)
|
rs1889211661
|
|
|
NM_020937.4(FANCM):c.4410G>A (p.Glu1470=)
|
|
|
|
NM_020937.4(FANCM):c.4410G>C (p.Glu1470Asp)
|
rs534488351
|
|
|
NM_020937.4(FANCM):c.4425C>G (p.Pro1475=)
|
|
|
|
NM_020937.4(FANCM):c.443C>T (p.Thr148Ile)
|
|
|
|
NM_020937.4(FANCM):c.4447G>C (p.Asp1483His)
|
rs1889215664
|
|
|
NM_020937.4(FANCM):c.444A>T (p.Thr148=)
|
|
|
|
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg)
|
rs2139278064
|
|
|
NM_020937.4(FANCM):c.4456del (p.Val1486fs)
|
rs1478392446
|
|
|
NM_020937.4(FANCM):c.4461T>C (p.Cys1487=)
|
rs2139278112
|
|
|
NM_020937.4(FANCM):c.4469A>G (p.Asn1490Ser)
|
|
|
|
NM_020937.4(FANCM):c.4473C>T (p.Ala1491=)
|
|
|
|
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs)
|
|
|
|
NM_020937.4(FANCM):c.4477del (p.Arg1493fs)
|
rs1889219103
|
|
|
NM_020937.4(FANCM):c.447_448delinsAG (p.Gln150Glu)
|
rs1885518528
|
|
|
NM_020937.4(FANCM):c.4480G>T (p.Gly1494Cys)
|
rs772085199
|
|
|
NM_020937.4(FANCM):c.4481G>A (p.Gly1494Asp)
|
rs1889220204
|
|
|
NM_020937.4(FANCM):c.4486A>G (p.Lys1496Glu)
|
|
|
|
NM_020937.4(FANCM):c.4489G>A (p.Val1497Ile)
|
rs369576101
|
|
|
NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)
|
|
|
|
NM_020937.4(FANCM):c.4493C>G (p.Pro1498Arg)
|
|
|
|
NM_020937.4(FANCM):c.4498A>C (p.Arg1500=)
|
rs890874156
|
|
|
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys)
|
rs755947203
|
|
|
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)
|
|
|
|
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs)
|
rs1566775922
|
|
|
NM_020937.4(FANCM):c.4509C>T (p.His1503=)
|
rs2139278586
|
|
|
NM_020937.4(FANCM):c.4515+11_4515+14del
|
rs747887646
|
|
|
NM_020937.4(FANCM):c.4515+14del
|
rs747887646
|
|
|
NM_020937.4(FANCM):c.4515+4A>G
|
|
|
|
NM_020937.4(FANCM):c.4515+6C>A
|
|
|
|
NM_020937.4(FANCM):c.4516-16A>C
|
|
|
|
NM_020937.4(FANCM):c.4516-5_4516-2del
|
rs796584585
|
|
|
NM_020937.4(FANCM):c.4516-8T>C
|
|
|
|
NM_020937.4(FANCM):c.4517A>T (p.His1506Leu)
|
rs775457463
|
|
|
NM_020937.4(FANCM):c.4524T>C (p.Ala1508=)
|
rs1275446853
|
|
|
NM_020937.4(FANCM):c.4525A>C (p.Arg1509=)
|
|
|
|
NM_020937.4(FANCM):c.4527G>A (p.Arg1509=)
|
|
|
|
NM_020937.4(FANCM):c.4536A>C (p.Leu1512Phe)
|
|
|
|
NM_020937.4(FANCM):c.4545A>T (p.Glu1515Asp)
|
rs1889323052
|
|
|
NM_020937.4(FANCM):c.4548A>G (p.Ala1516=)
|
rs980940741
|
|
|
NM_020937.4(FANCM):c.454G>A (p.Glu152Lys)
|
rs1885519043
|
|
|
NM_020937.4(FANCM):c.4552C>G (p.Leu1518Val)
|
|
|
|
NM_020937.4(FANCM):c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1517_Leu1518insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
|
|
|
|
NM_020937.4(FANCM):c.4562A>T (p.Glu1521Val)
|
|
|
|
NM_020937.4(FANCM):c.4566T>C (p.Asp1522=)
|
rs375131983
|
|
|
NM_020937.4(FANCM):c.4566T>G (p.Asp1522Glu)
|
rs375131983
|
|
|
NM_020937.4(FANCM):c.4568C>A (p.Ala1523Glu)
|
|
|
|
NM_020937.4(FANCM):c.4568C>G (p.Ala1523Gly)
|
rs960743288
|
|
|
NM_020937.4(FANCM):c.4573T>C (p.Tyr1525His)
|
|
|
|
NM_020937.4(FANCM):c.4574_4575del (p.Tyr1525fs)
|
|
|
|
NM_020937.4(FANCM):c.4576G>A (p.Val1526Ile)
|
rs982820875
|
|
|
NM_020937.4(FANCM):c.457G>C (p.Ala153Pro)
|
|
|
|
NM_020937.4(FANCM):c.4582T>G (p.Ser1528Ala)
|
rs1889328561
|
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
|
NM_020937.4(FANCM):c.4591A>G (p.Asn1531Asp)
|
|
|
|
NM_020937.4(FANCM):c.4593TGA[1] (p.Asp1532del)
|
|
|
|
NM_020937.4(FANCM):c.4594G>A (p.Asp1532Asn)
|
|
|
|
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter)
|
rs1594810556
|
|
|
NM_020937.4(FANCM):c.4603G>C (p.Glu1535Gln)
|
|
|
|
NM_020937.4(FANCM):c.4608T>C (p.Asn1536=)
|
|
|
|
NM_020937.4(FANCM):c.4617T>C (p.Asp1539=)
|
|
|
|
NM_020937.4(FANCM):c.4619C>T (p.Ser1540Phe)
|
rs1889332251
|
|
|
NM_020937.4(FANCM):c.4620C>G (p.Ser1540=)
|
|
|
|
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.4641T>A (p.Asn1547Lys)
|
rs932577451
|
|
|
NM_020937.4(FANCM):c.4643A>G (p.Asp1548Gly)
|
|
|
|
NM_020937.4(FANCM):c.4645G>A (p.Glu1549Lys)
|
|
|
|
NM_020937.4(FANCM):c.4648A>T (p.Thr1550Ser)
|
|
|
|
NM_020937.4(FANCM):c.4651C>G (p.Gln1551Glu)
|
rs1889335215
|
|
|
NM_020937.4(FANCM):c.4654C>A (p.Leu1552Ile)
|
|
|
|
NM_020937.4(FANCM):c.4657T>G (p.Ser1553Ala)
|
rs2139284324
|
|
|
NM_020937.4(FANCM):c.465C>T (p.Tyr155=)
|
rs1885520790
|
|
|
NM_020937.4(FANCM):c.4661A>G (p.Gln1554Arg)
|
|
|
|
NM_020937.4(FANCM):c.4664C>G (p.Ala1555Gly)
|
rs2139284354
|
|
|
NM_020937.4(FANCM):c.4665T>C (p.Ala1555=)
|
|
|
|
NM_020937.4(FANCM):c.4666A>G (p.Ile1556Val)
|
|
|
|
NM_020937.4(FANCM):c.4668A>G (p.Ile1556Met)
|
|
|
|
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter)
|
rs1885521004
|
|
|
NM_020937.4(FANCM):c.4672+10A>G
|
|
|
|
NM_020937.4(FANCM):c.4672+18C>A
|
|
|
|
NM_020937.4(FANCM):c.4672+6T>A
|
|
|
|
NM_020937.4(FANCM):c.4672+7G>C
|
|
|
|
NM_020937.4(FANCM):c.4672+8T>A
|
|
|
|
NM_020937.4(FANCM):c.4673-10C>T
|
|
|
|
NM_020937.4(FANCM):c.4673-12A>T
|
|
|
|
NM_020937.4(FANCM):c.4673-15C>G
|
rs2139291737
|
|
|
NM_020937.4(FANCM):c.4673-1G>A
|
|
|
|
NM_020937.4(FANCM):c.4673-2A>C
|
rs2139291763
|
|
|
NM_020937.4(FANCM):c.4673-5C>T
|
|
|
|
NM_020937.4(FANCM):c.4681A>G (p.Met1561Val)
|
rs2139291810
|
|
|
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=)
|
rs1889498706
|
|
|
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr)
|
rs1889499436
|
|
|
NM_020937.4(FANCM):c.46A>G (p.Ile16Val)
|
|
|
|
NM_020937.4(FANCM):c.4708C>A (p.Arg1570Ser)
|
rs139376041
|
|
|
NM_020937.4(FANCM):c.4709G>T (p.Arg1570Leu)
|
|
|
|
NM_020937.4(FANCM):c.4721T>G (p.Met1574Arg)
|
|
|
|
NM_020937.4(FANCM):c.4725C>G (p.Asn1575Lys)
|
|
|
|
NM_020937.4(FANCM):c.4739T>G (p.Met1580Arg)
|
rs1889503433
|
|
|
NM_020937.4(FANCM):c.4741A>G (p.Ile1581Val)
|
rs1649188416
|
|
|
NM_020937.4(FANCM):c.474_479del (p.Met158_Gly159del)
|
|
|
|
NM_020937.4(FANCM):c.4758A>G (p.Lys1586=)
|
rs2139292189
|
|
|
NM_020937.4(FANCM):c.4763T>C (p.Ile1588Thr)
|
rs2139292209
|
|
|
NM_020937.4(FANCM):c.476G>C (p.Gly159Ala)
|
|
|
|
NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile)
|
rs773152045
|
|
|
NM_020937.4(FANCM):c.4779+10A>G
|
|
|
|
NM_020937.4(FANCM):c.4779+10A>T
|
|
|
|
NM_020937.4(FANCM):c.4779+14A>T
|
|
|
|
NM_020937.4(FANCM):c.4779+16A>C
|
|
|
|
NM_020937.4(FANCM):c.4779+18A>G
|
|
|
|
NM_020937.4(FANCM):c.4779+1del
|
rs764534989
|
|
|
NM_020937.4(FANCM):c.4779+5_4779+9del
|
rs1889507289
|
|
|
NM_020937.4(FANCM):c.4779+6A>T
|
|
|
|
NM_020937.4(FANCM):c.4779+7A>T
|
|
|
|
NM_020937.4(FANCM):c.4780-10T>C
|
|
|
|
NM_020937.4(FANCM):c.4780-16T>C
|
rs981677198
|
|
|
NM_020937.4(FANCM):c.4780-20T>G
|
|
|
|
NM_020937.4(FANCM):c.4780-2A>G
|
rs1889569618
|
|
|
NM_020937.4(FANCM):c.4780-4G>A
|
|
|
|
NM_020937.4(FANCM):c.4780-4G>C
|
rs1486453187
|
|
|
NM_020937.4(FANCM):c.4780-6T>C
|
|
|
|
NM_020937.4(FANCM):c.4780A>G (p.Ile1594Val)
|
|
|
|
NM_020937.4(FANCM):c.4805T>C (p.Leu1602Ser)
|
|
|
|
NM_020937.4(FANCM):c.4809G>A (p.Glu1603=)
|
rs1209233923
|
|
|
NM_020937.4(FANCM):c.480C>T (p.Ile160=)
|
rs753171718
|
|
|
NM_020937.4(FANCM):c.4810G>T (p.Asp1604Tyr)
|
|
|
|
NM_020937.4(FANCM):c.4812T>C (p.Asp1604=)
|
|
|
|
NM_020937.4(FANCM):c.4817T>C (p.Phe1606Ser)
|
|
|
|
NM_020937.4(FANCM):c.4821T>G (p.Cys1607Trp)
|
|
|
|
NM_020937.4(FANCM):c.4825G>A (p.Asp1609Asn)
|
|
|
|
NM_020937.4(FANCM):c.4850A>G (p.Gln1617Arg)
|
|
|
|
NM_020937.4(FANCM):c.4851A>G (p.Gln1617=)
|
|
|
|
NM_020937.4(FANCM):c.4857T>A (p.Ser1619Arg)
|
rs1594814748
|
|
|
NM_020937.4(FANCM):c.4859A>G (p.Glu1620Gly)
|
rs2139295530
|
|
|
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del)
|
rs765421461
|
|
|
NM_020937.4(FANCM):c.486A>G (p.Gln162=)
|
|
|
|
NM_020937.4(FANCM):c.4884C>A (p.Asn1628Lys)
|
rs1594814788
|
|
|
NM_020937.4(FANCM):c.4896T>C (p.Asp1632=)
|
|
|
|
NM_020937.4(FANCM):c.4901_4902delinsTT (p.Cys1634Phe)
|
|
|
|
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)
|
|
|
|
NM_020937.4(FANCM):c.4934G>C (p.Arg1645Pro)
|
|
|
|
NM_020937.4(FANCM):c.4943T>G (p.Met1648Arg)
|
rs766886760
|
|
|
NM_020937.4(FANCM):c.4951G>C (p.Glu1651Gln)
|
rs752279370
|
|
|
NM_020937.4(FANCM):c.4954A>G (p.Met1652Val)
|
|
|
|
NM_020937.4(FANCM):c.4972G>C (p.Ala1658Pro)
|
rs1889586772
|
|
|
NM_020937.4(FANCM):c.4979C>T (p.Ser1660Leu)
|
rs547959452
|
|
|
NM_020937.4(FANCM):c.4981A>G (p.Lys1661Glu)
|
rs1324848045
|
|
|
NM_020937.4(FANCM):c.4989A>G (p.Lys1663=)
|
rs2139296164
|
|
|
NM_020937.4(FANCM):c.4999ATT[1] (p.Ile1668del)
|
|
|
|
NM_020937.4(FANCM):c.5001T>A (p.Ile1667=)
|
rs1566782787
|
|
|
NM_020937.4(FANCM):c.5005T>C (p.Leu1669=)
|
rs2139296234
|
|
|
NM_020937.4(FANCM):c.5008C>T (p.Pro1670Ser)
|
rs1594814972
|
|
|
NM_020937.4(FANCM):c.5010A>C (p.Pro1670=)
|
|
|
|
NM_020937.4(FANCM):c.5022T>C (p.Ser1674=)
|
rs1295913364
|
|
|
NM_020937.4(FANCM):c.5023GAG[2] (p.Glu1677del)
|
rs750497256
|
|
|
NM_020937.4(FANCM):c.5028G>A (p.Glu1676=)
|
rs1294591452
|
|
|
NM_020937.4(FANCM):c.5034C>A (p.Asn1678Lys)
|
|
|
|
NM_020937.4(FANCM):c.5037T>C (p.Asn1679=)
|
rs2139296506
|
|
|
NM_020937.4(FANCM):c.5041A>G (p.Asn1681Asp)
|
rs2139296522
|
|
|
NM_020937.4(FANCM):c.5044G>C (p.Asp1682His)
|
|
|
|
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala)
|
rs2139296568
|
|
|
NM_020937.4(FANCM):c.5045A>G (p.Asp1682Gly)
|
|
|
|
NM_020937.4(FANCM):c.5046T>G (p.Asp1682Glu)
|
rs1302536129
|
|
|
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs)
|
rs1566782962
|
|
|
NM_020937.4(FANCM):c.5059A>G (p.Asn1687Asp)
|
|
|
|
NM_020937.4(FANCM):c.505A>G (p.Thr169Ala)
|
|
|
|
NM_020937.4(FANCM):c.5062A>G (p.Ile1688Val)
|
|
|
|
NM_020937.4(FANCM):c.5068G>A (p.Val1690Ile)
|
rs752352756
|
|
|
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu)
|
rs752352756
|
|
|
NM_020937.4(FANCM):c.5070T>C (p.Val1690=)
|
|
|
|
NM_020937.4(FANCM):c.5072A>G (p.Asn1691Ser)
|
rs1594815120
|
|
|
NM_020937.4(FANCM):c.5078G>A (p.Ser1693Asn)
|
rs528554660
|
|
|
NM_020937.4(FANCM):c.508+11C>T
|
|
|
|
NM_020937.4(FANCM):c.508+17T>C
|
|
|
|
NM_020937.4(FANCM):c.508+19A>G
|
|
|
|
NM_020937.4(FANCM):c.508+20T>C
|
|
|
|
NM_020937.4(FANCM):c.508+3A>G
|
rs775341176
|
|
|
NM_020937.4(FANCM):c.508+5C>G
|
rs886050497
|
|
|
NM_020937.4(FANCM):c.5088GAA[1] (p.Lys1697del)
|
rs2139296928
|
|
|
NM_020937.4(FANCM):c.509-16T>C
|
|
|
|
NM_020937.4(FANCM):c.5095A>G (p.Lys1699Glu)
|
rs2139296999
|
|
|
NM_020937.4(FANCM):c.5096A>G (p.Lys1699Arg)
|
|
|
|
NM_020937.4(FANCM):c.5097_5100del (p.Lys1699fs)
|
|
|
|
NM_020937.4(FANCM):c.5104G>C (p.Asp1702His)
|
|
|
|
NM_020937.4(FANCM):c.5104G>T (p.Asp1702Tyr)
|
rs1033212754
|
|
|
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp)
|
rs367653310
|
|
|
NM_020937.4(FANCM):c.5107C>T (p.His1703Tyr)
|
|
|
|
NM_020937.4(FANCM):c.5118T>C (p.Asn1706=)
|
|
|
|
NM_020937.4(FANCM):c.511T>C (p.Ser171Pro)
|
rs1885568109
|
|
|
NM_020937.4(FANCM):c.5120C>T (p.Ser1707Leu)
|
|
|
|
NM_020937.4(FANCM):c.5121A>G (p.Ser1707=)
|
|
|
|
NM_020937.4(FANCM):c.5122G>T (p.Val1708Leu)
|
rs1566783242
|
|
|
NM_020937.4(FANCM):c.5141C>A (p.Ala1714Glu)
|
rs139383231
|
|
|
NM_020937.4(FANCM):c.5147C>T (p.Ser1716Phe)
|
|
|
|
NM_020937.4(FANCM):c.5148C>A (p.Ser1716=)
|
rs201043779
|
|
|
NM_020937.4(FANCM):c.5149A>C (p.Lys1717Gln)
|
|
|
|
NM_020937.4(FANCM):c.5156G>T (p.Arg1719Leu)
|
rs760421586
|
|
|
NM_020937.4(FANCM):c.5166A>C (p.Pro1722=)
|
|
|
|
NM_020937.4(FANCM):c.5166A>G (p.Pro1722=)
|
rs753430768
|
|
|
NM_020937.4(FANCM):c.516dup (p.Gln173fs)
|
rs2139106255
|
|
|
NM_020937.4(FANCM):c.5177C>G (p.Pro1726Arg)
|
|
|
|
NM_020937.4(FANCM):c.5185A>G (p.Lys1729Glu)
|
|
|
|
NM_020937.4(FANCM):c.5193C>T (p.Ser1731=)
|
rs1016481325
|
|
|
NM_020937.4(FANCM):c.5197C>G (p.Gln1733Glu)
|
rs374587255
|
|
|
NM_020937.4(FANCM):c.5199G>A (p.Gln1733=)
|
rs1555367253
|
|
|
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs)
|
|
|
|
NM_020937.4(FANCM):c.51C>T (p.Ser17=)
|
rs974750486
|
|
|
NM_020937.4(FANCM):c.5200A>G (p.Thr1734Ala)
|
rs756631911
|
|
|
NM_020937.4(FANCM):c.5201del (p.Thr1734fs)
|
rs2139297782
|
|
|
NM_020937.4(FANCM):c.5202A>T (p.Thr1734=)
|
|
|
|
NM_020937.4(FANCM):c.5233G>A (p.Val1745Ile)
|
|
|
|
NM_020937.4(FANCM):c.5237C>T (p.Ser1746Leu)
|
rs1889613187
|
|
|
NM_020937.4(FANCM):c.5239G>C (p.Asp1747His)
|
|
|
|
NM_020937.4(FANCM):c.5249C>T (p.Pro1750Leu)
|
|
|
|
NM_020937.4(FANCM):c.525C>T (p.Ser175=)
|
rs1594751744
|
|
|
NM_020937.4(FANCM):c.5260A>T (p.Asn1754Tyr)
|
|
|
|
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)
|
|
|
|
NM_020937.4(FANCM):c.526A>C (p.Thr176Pro)
|
|
|
|
NM_020937.4(FANCM):c.5270A>G (p.Gln1757Arg)
|
|
|
|
NM_020937.4(FANCM):c.5277C>G (p.Thr1759=)
|
|
|
|
NM_020937.4(FANCM):c.5277C>T (p.Thr1759=)
|
rs757298864
|
|
|
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala)
|
rs540327722
|
|
|
NM_020937.4(FANCM):c.5282C>T (p.Pro1761Leu)
|
rs1395216158
|
|
|
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg)
|
rs747356020
|
|
|
NM_020937.4(FANCM):c.528C>A (p.Thr176=)
|
|
|
|
NM_020937.4(FANCM):c.5290A>G (p.Thr1764Ala)
|
rs776417170
|
|
|
NM_020937.4(FANCM):c.5291C>T (p.Thr1764Ile)
|
rs1889619711
|
|
|
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala)
|
rs1386457912
|
|
|
NM_020937.4(FANCM):c.5297T>C (p.Val1766Ala)
|
rs368109537
|
|
|
NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)
|
|
|
|
NM_020937.4(FANCM):c.5305C>G (p.Gln1769Glu)
|
rs1277570500
|
|
|
NM_020937.4(FANCM):c.5313C>A (p.Asp1771Glu)
|
|
|
|
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer)
|
rs1566783809
|
|
|
NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr)
|
rs1594815624
|
|
|
NM_020937.4(FANCM):c.5327C>T (p.Pro1776Leu)
|
|
|
|
NM_020937.4(FANCM):c.5331T>C (p.Val1777=)
|
|
|
|
NM_020937.4(FANCM):c.5333C>T (p.Pro1778Leu)
|
rs1212903067
|
|
|
NM_020937.4(FANCM):c.5340+10A>C
|
|
|
|
NM_020937.4(FANCM):c.5340+13G>T
|
rs1566783918
|
|
|
NM_020937.4(FANCM):c.5340+19A>G
|
|
|
|
NM_020937.4(FANCM):c.5340+2T>C
|
|
|
|
NM_020937.4(FANCM):c.5340+4T>C
|
|
|
|
NM_020937.4(FANCM):c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr)
|
rs1889624694
|
|
|
NM_020937.4(FANCM):c.5341-10A>G
|
rs900420318
|
|
|
NM_020937.4(FANCM):c.5341-3C>T
|
rs1890043451
|
|
|
NM_020937.4(FANCM):c.5346T>C (p.Gly1782=)
|
|
|
|
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn)
|
rs997324391
|
|
|
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter)
|
rs1324635932
|
|
|
NM_020937.4(FANCM):c.5367C>T (p.Ser1789=)
|
|
|
|
NM_020937.4(FANCM):c.5372C>T (p.Ser1791Leu)
|
|
|
|
NM_020937.4(FANCM):c.5375G>A (p.Gly1792Glu)
|
|
|
|
NM_020937.4(FANCM):c.5376G>A (p.Gly1792=)
|
|
|
|
NM_020937.4(FANCM):c.5380del (p.Ser1794fs)
|
rs1890046687
|
|
|
NM_020937.4(FANCM):c.5387C>G (p.Ser1796Cys)
|
|
|
|
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe)
|
rs1275681669
|
|
|
NM_020937.4(FANCM):c.538del (p.Ile180fs)
|
rs2139106358
|
|
|
NM_020937.4(FANCM):c.5396G>T (p.Arg1799Ile)
|
rs996654030
|
|
|
NM_020937.4(FANCM):c.539T>C (p.Ile180Thr)
|
rs2139106376
|
|
|
NM_020937.4(FANCM):c.5409T>A (p.Ala1803=)
|
|
|
|
NM_020937.4(FANCM):c.5415A>G (p.Thr1805=)
|
rs1594481117
|
|
|
NM_020937.4(FANCM):c.541T>C (p.Trp181Arg)
|
rs1885571765
|
|
|
NM_020937.4(FANCM):c.5424T>C (p.Ser1808=)
|
|
|
|
NM_020937.4(FANCM):c.5432T>A (p.Leu1811His)
|
|
|
|
NM_020937.4(FANCM):c.5434C>A (p.Pro1812Thr)
|
rs3736772
|
|
|
NM_020937.4(FANCM):c.5436G>T (p.Pro1812=)
|
rs377630399
|
|
|
NM_020937.4(FANCM):c.543G>T (p.Trp181Cys)
|
rs749507878
|
|
|
NM_020937.4(FANCM):c.5443G>A (p.Gly1815Arg)
|
rs766516817
|
|
|
NM_020937.4(FANCM):c.5444G>A (p.Gly1815Glu)
|
|
|
|
NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter)
|
rs1594481199
|
|
|
NM_020937.4(FANCM):c.5447A>G (p.Lys1816Arg)
|
rs2139319399
|
|
|
NM_020937.4(FANCM):c.5449G>A (p.Gly1817Arg)
|
|
|
|
NM_020937.4(FANCM):c.5452A>G (p.Thr1818Ala)
|
|
|
|
NM_020937.4(FANCM):c.5453C>T (p.Thr1818Ile)
|
|
|
|
NM_020937.4(FANCM):c.5456G>A (p.Cys1819Tyr)
|
|
|
|
NM_020937.4(FANCM):c.5466A>G (p.Val1822=)
|
rs990911529
|
|
|
NM_020937.4(FANCM):c.546C>T (p.Cys182=)
|
|
|
|
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter)
|
rs1354153410
|
|
|
NM_020937.4(FANCM):c.5478A>C (p.Glu1826Asp)
|
rs1890053191
|
|
|
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs)
|
|
|
|
NM_020937.4(FANCM):c.548G>A (p.Ser183Asn)
|
rs961990525
|
|
|
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs)
|
rs1566790465
|
|
|
NM_020937.4(FANCM):c.54A>G (p.Arg18=)
|
rs1885467009
|
|
|
NM_020937.4(FANCM):c.5504C>T (p.Ser1835Phe)
|
|
|
|
NM_020937.4(FANCM):c.5508C>T (p.Ser1836=)
|
|
|
|
NM_020937.4(FANCM):c.5513G>A (p.Arg1838Lys)
|
|
|
|
NM_020937.4(FANCM):c.5523T>C (p.His1841=)
|
rs753441608
|
|
|
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)
|
|
|
|
NM_020937.4(FANCM):c.5532A>T (p.Gln1844His)
|
|
|
|
NM_020937.4(FANCM):c.5539G>T (p.Val1847Phe)
|
|
|
|
NM_020937.4(FANCM):c.5565C>T (p.Tyr1855=)
|
rs745364887
|
|
|
NM_020937.4(FANCM):c.5568C>G (p.Ile1856Met)
|
|
|
|
NM_020937.4(FANCM):c.5578C>G (p.Arg1860Gly)
|
rs139996409
|
|
|
NM_020937.4(FANCM):c.5584G>A (p.Val1862Met)
|
rs1280753248
|
|
|
NM_020937.4(FANCM):c.5598G>A (p.Arg1866=)
|
rs771248011
|
|
|
NM_020937.4(FANCM):c.5598G>T (p.Arg1866Ser)
|
|
|
|
NM_020937.4(FANCM):c.5600C>T (p.Ser1867Phe)
|
|
|
|
NM_020937.4(FANCM):c.5604A>G (p.Gln1868=)
|
rs1271195801
|
|
|
NM_020937.4(FANCM):c.5605T>C (p.Ser1869Pro)
|
rs1890063101
|
|
|
NM_020937.4(FANCM):c.5608G>A (p.Glu1870Lys)
|
|
|
|
NM_020937.4(FANCM):c.5612T>C (p.Met1871Thr)
|
|
|
|
NM_020937.4(FANCM):c.5613G>A (p.Met1871Ile)
|
rs1890063687
|
|
|
NM_020937.4(FANCM):c.5624T>C (p.Val1875Ala)
|
|
|
|
NM_020937.4(FANCM):c.5628T>C (p.Asn1876=)
|
rs1039452790
|
|
|
NM_020937.4(FANCM):c.5652C>A (p.Ile1884=)
|
|
|
|
NM_020937.4(FANCM):c.5658C>G (p.His1886Gln)
|
rs1364697360
|
|
|
NM_020937.4(FANCM):c.5667T>G (p.Ser1889Arg)
|
|
|
|
NM_020937.4(FANCM):c.5669T>C (p.Met1890Thr)
|
rs1392653043
|
|
|
NM_020937.4(FANCM):c.5672T>C (p.Phe1891Ser)
|
rs1890067683
|
|
|
NM_020937.4(FANCM):c.5679A>T (p.Arg1893Ser)
|
rs750143582
|
|
|
NM_020937.4(FANCM):c.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs)
|
|
|
|
NM_020937.4(FANCM):c.5680A>G (p.Ile1894Val)
|
|
|
|
NM_020937.4(FANCM):c.5682A>G (p.Ile1894Met)
|
|
|
|
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter)
|
|
|
|
NM_020937.4(FANCM):c.5692G>A (p.Val1898Met)
|
|
|
|
NM_020937.4(FANCM):c.5692G>T (p.Val1898Leu)
|
|
|
|
NM_020937.4(FANCM):c.569C>G (p.Thr190Arg)
|
|
|
|
NM_020937.4(FANCM):c.5703C>T (p.Asp1901=)
|
|
|
|
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs)
|
|
|
|
NM_020937.4(FANCM):c.5713A>G (p.Thr1905Ala)
|
|
|
|
NM_020937.4(FANCM):c.5716+16T>C
|
|
|
|
NM_020937.4(FANCM):c.5716+23_5716+26del
|
rs745329742
|
|
|
NM_020937.4(FANCM):c.5716+5G>A
|
|
|
|
NM_020937.4(FANCM):c.5716+6T>C
|
|
|
|
NM_020937.4(FANCM):c.5716+7A>G
|
|
|
|
NM_020937.4(FANCM):c.5717-10G>T
|
rs939194173
|
|
|
NM_020937.4(FANCM):c.5717-18C>T
|
|
|
|
NM_020937.4(FANCM):c.5717-19C>T
|
|
|
|
NM_020937.4(FANCM):c.5729G>C (p.Arg1910Thr)
|
rs1193767487
|
|
|
NM_020937.4(FANCM):c.572C>T (p.Pro191Leu)
|
rs1555358635
|
|
|
NM_020937.4(FANCM):c.5732T>A (p.Met1911Lys)
|
rs1346827067
|
|
|
NM_020937.4(FANCM):c.5741G>A (p.Arg1914Lys)
|
rs1890202191
|
|
|
NM_020937.4(FANCM):c.5744C>A (p.Thr1915Lys)
|
rs2139328014
|
|
|
NM_020937.4(FANCM):c.5747A>G (p.Lys1916Arg)
|
rs908307807
|
|
|
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs)
|
rs1203346034
|
|
|
NM_020937.4(FANCM):c.5750G>A (p.Ser1917Asn)
|
|
|
|
NM_020937.4(FANCM):c.5760C>T (p.Ser1920=)
|
|
|
|
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs)
|
|
|
|
NM_020937.4(FANCM):c.5769T>C (p.Thr1923=)
|
rs775627849
|
|
|
NM_020937.4(FANCM):c.576G>A (p.Gln192=)
|
|
|
|
NM_020937.4(FANCM):c.5771C>T (p.Thr1924Ile)
|
|
|
|
NM_020937.4(FANCM):c.577G>T (p.Val193Phe)
|
|
|
|
NM_020937.4(FANCM):c.5781C>T (p.Gly1927=)
|
|
|
|
NM_020937.4(FANCM):c.5783C>A (p.Ala1928Asp)
|
|
|
|
NM_020937.4(FANCM):c.5805T>A (p.Ser1935Arg)
|
rs1890206867
|
|
|
NM_020937.4(FANCM):c.5806T>A (p.Ser1936Thr)
|
|
|
|
NM_020937.4(FANCM):c.5811C>T (p.Cys1937=)
|
rs2139328462
|
|
|
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)
|
|
|
|
NM_020937.4(FANCM):c.5816A>G (p.Glu1939Gly)
|
rs1890207596
|
|
|
NM_020937.4(FANCM):c.5821A>C (p.Thr1941Pro)
|
rs2139328515
|
|
|
NM_020937.4(FANCM):c.5824G>T (p.Ala1942Ser)
|
rs759078220
|
|
|
NM_020937.4(FANCM):c.5828A>G (p.Asp1943Gly)
|
|
|
|
NM_020937.4(FANCM):c.582G>A (p.Met194Ile)
|
|
|
|
NM_020937.4(FANCM):c.5835A>G (p.Leu1945=)
|
rs752621594
|
|
|
NM_020937.4(FANCM):c.5839G>C (p.Glu1947Gln)
|
rs1890209507
|
|
|
NM_020937.4(FANCM):c.583G>A (p.Val195Ile)
|
|
|
|
NM_020937.4(FANCM):c.5843T>A (p.Leu1948Gln)
|
|
|
|
NM_020937.4(FANCM):c.5844G>A (p.Leu1948=)
|
|
|
|
NM_020937.4(FANCM):c.5844G>C (p.Leu1948=)
|
|
|
|
NM_020937.4(FANCM):c.5853G>A (p.Val1951=)
|
|
|
|
NM_020937.4(FANCM):c.5864A>T (p.Lys1955Met)
|
|
|
|
NM_020937.4(FANCM):c.5870T>C (p.Val1957Ala)
|
rs1890211851
|
|
|
NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys)
|
rs1441113303
|
|
|
NM_020937.4(FANCM):c.5875A>G (p.Ile1959Val)
|
|
|
|
NM_020937.4(FANCM):c.5879A>G (p.His1960Arg)
|
|
|
|
NM_020937.4(FANCM):c.5888C>A (p.Thr1963Lys)
|
|
|
|
NM_020937.4(FANCM):c.5889A>G (p.Thr1963=)
|
|
|
|
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del)
|
rs769106934
|
|
|
NM_020937.4(FANCM):c.5901TAA[1] (p.Asn1968del)
|
rs1890214050
|
|
|
NM_020937.4(FANCM):c.5903A>G (p.Asn1968Ser)
|
|
|
|
NM_020937.4(FANCM):c.5910T>G (p.Ser1970Arg)
|
rs2139329050
|
|
|
NM_020937.4(FANCM):c.5914G>A (p.Ala1972Thr)
|
rs2139329078
|
|
|
NM_020937.4(FANCM):c.5927A>G (p.Tyr1976Cys)
|
rs1594486279
|
|
|
NM_020937.4(FANCM):c.5965A>C (p.Asn1989His)
|
|
|
|
NM_020937.4(FANCM):c.5989G>C (p.Val1997Leu)
|
rs1890218222
|
|
|
NM_020937.4(FANCM):c.5997G>C (p.Arg1999Ser)
|
rs1890218564
|
|
|
NM_020937.4(FANCM):c.6008+12G>A
|
rs980668545
|
|
|
NM_020937.4(FANCM):c.6008+1G>A
|
rs984955481
|
|
|
NM_020937.4(FANCM):c.6008+4T>C
|
|
|
|
NM_020937.4(FANCM):c.6008+9G>A
|
rs2139329468
|
|
|
NM_020937.4(FANCM):c.6009-8T>C
|
|
|
|
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)
|
rs760258217
|
|
|
NM_020937.4(FANCM):c.6010T>C (p.Ser2004Pro)
|
|
|
|
NM_020937.4(FANCM):c.6016C>A (p.Gln2006Lys)
|
|
|
|
NM_020937.4(FANCM):c.6019G>A (p.Glu2007Lys)
|
rs1890266228
|
|
|
NM_020937.4(FANCM):c.6026C>A (p.Ser2009Tyr)
|
|
|
|
NM_020937.4(FANCM):c.6028A>G (p.Met2010Val)
|
rs776577985
|
|
|
NM_020937.4(FANCM):c.6030G>A (p.Met2010Ile)
|
rs1890267290
|
|
|
NM_020937.4(FANCM):c.6038A>G (p.Gln2013Arg)
|
|
|
|
NM_020937.4(FANCM):c.6055G>C (p.Ala2019Pro)
|
rs1890268255
|
|
|
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del)
|
rs770012987
|
|
|
NM_020937.4(FANCM):c.605C>T (p.Ala202Val)
|
rs1885579524
|
|
|
NM_020937.4(FANCM):c.6061G>A (p.Glu2021Lys)
|
|
|
|
NM_020937.4(FANCM):c.6065T>G (p.Ile2022Ser)
|
rs2139331987
|
|
|
NM_020937.4(FANCM):c.6066C>G (p.Ile2022Met)
|
rs2139331995
|
|
|
NM_020937.4(FANCM):c.6071_6076del (p.Arg2024_Tyr2025del)
|
rs773456844
|
|
|
NM_020937.4(FANCM):c.6075T>A (p.Tyr2025Ter)
|
|
|
|
NM_020937.4(FANCM):c.6075T>G (p.Tyr2025Ter)
|
|
|
|
NM_020937.4(FANCM):c.6090T>C (p.Phe2030=)
|
|
|
|
NM_020937.4(FANCM):c.6092A>G (p.Asp2031Gly)
|
|
|
|
NM_020937.4(FANCM):c.6095T>A (p.Ile2032Lys)
|
|
|
|
NM_020937.4(FANCM):c.6102G>A (p.Met2034Ile)
|
rs1890272153
|
|
|
NM_020937.4(FANCM):c.6117T>A (p.Leu2039=)
|
|
|
|
NM_020937.4(FANCM):c.6122_6125del (p.Gln2041fs)
|
|
|
|
NM_020937.4(FANCM):c.6135A>G (p.Lys2045=)
|
|
|
|
NM_020937.4(FANCM):c.6137C>A (p.Ser2046Tyr)
|
|
|
|
NM_020937.4(FANCM):c.6138T>C (p.Ser2046=)
|
rs746677351
|
|
|
NM_020937.4(FANCM):c.6138T>G (p.Ser2046=)
|
rs746677351
|
|
|
NM_020937.4(FANCM):c.6140_*8del (p.Asp2047fs)
|
rs1594488249
|
|
|
NM_020937.4(FANCM):c.6143del (p.Ile2048fs)
|
|
|
|
NM_020937.4(FANCM):c.620A>T (p.Glu207Val)
|
rs1885580819
|
|
|
NM_020937.4(FANCM):c.625A>C (p.Lys209Gln)
|
rs1555358657
|
|
|
NM_020937.4(FANCM):c.632T>C (p.Leu211Ser)
|
rs2139107015
|
|
|
NM_020937.4(FANCM):c.639T>C (p.Ile213=)
|
|
|
|
NM_020937.4(FANCM):c.642T>A (p.Asp214Glu)
|
rs1885582744
|
|
|
NM_020937.4(FANCM):c.645A>T (p.Glu215Asp)
|
rs1215370736
|
|
|
NM_020937.4(FANCM):c.656C>T (p.Ala219Val)
|
rs1566718197
|
|
|
NM_020937.4(FANCM):c.660C>T (p.Leu220=)
|
|
|
|
NM_020937.4(FANCM):c.661G>A (p.Gly221Arg)
|
|
|
|
NM_020937.4(FANCM):c.666C>T (p.Asn222=)
|
rs2139107219
|
|
|
NM_020937.4(FANCM):c.668A>G (p.Tyr223Cys)
|
rs1594751903
|
|
|
NM_020937.4(FANCM):c.681+11T>G
|
|
|
|
NM_020937.4(FANCM):c.681+16A>G
|
|
|
|
NM_020937.4(FANCM):c.681+19G>A
|
rs1423581956
|
|
|
NM_020937.4(FANCM):c.681+20G>T
|
|
|
|
NM_020937.4(FANCM):c.681+7A>C
|
|
|
|
NM_020937.4(FANCM):c.682-14T>G
|
|
|
|
NM_020937.4(FANCM):c.682-21_682-20delinsTG
|
|
|
|
NM_020937.4(FANCM):c.682-2A>G
|
rs1885847871
|
|
|
NM_020937.4(FANCM):c.682-4T>C
|
rs1566721529
|
|
|
NM_020937.4(FANCM):c.682-5T>G
|
|
|
|
NM_020937.4(FANCM):c.682-6del
|
rs775413053
|
|
|
NM_020937.4(FANCM):c.682-6dup
|
|
|
|
NM_020937.4(FANCM):c.682-7del
|
rs759364320
|
|
|
NM_020937.4(FANCM):c.682-7dup
|
rs759364320
|
|
|
NM_020937.4(FANCM):c.684T>G (p.Val228=)
|
rs1885848310
|
|
|
NM_020937.4(FANCM):c.695T>A (p.Leu232Gln)
|
rs2139118252
|
|
|
NM_020937.4(FANCM):c.698T>C (p.Val233Ala)
|
rs1885849616
|
|
|
NM_020937.4(FANCM):c.69G>C (p.Pro23=)
|
|
|
|
NM_020937.4(FANCM):c.705T>C (p.Tyr235=)
|
rs567726889
|
|
|
NM_020937.4(FANCM):c.708_714del (p.Asn237fs)
|
rs1885850135
|
|
|
NM_020937.4(FANCM):c.70G>C (p.Gly24Arg)
|
|
|
|
NM_020937.4(FANCM):c.710A>G (p.Asn237Ser)
|
rs760977059
|
|
|
NM_020937.4(FANCM):c.710del (p.Asn237fs)
|
rs1340295590
|
|
|
NM_020937.4(FANCM):c.717T>G (p.Phe239Leu)
|
rs1365220972
|
|
|
NM_020937.4(FANCM):c.71G>T (p.Gly24Val)
|
rs1885468827
|
|
|
NM_020937.4(FANCM):c.730C>G (p.Leu244Val)
|
rs376357342
|
|
|
NM_020937.4(FANCM):c.730C>T (p.Leu244=)
|
rs376357342
|
|
|
NM_020937.4(FANCM):c.734G>A (p.Ser245Asn)
|
|
|
|
NM_020937.4(FANCM):c.736G>A (p.Ala246Thr)
|
rs2139118418
|
|
|
NM_020937.4(FANCM):c.746G>C (p.Gly249Ala)
|
rs965199350
|
|
|
NM_020937.4(FANCM):c.748A>G (p.Ser250Gly)
|
rs2139118486
|
|
|
NM_020937.4(FANCM):c.759+19C>T
|
|
|
|
NM_020937.4(FANCM):c.759+19dup
|
|
|
|
NM_020937.4(FANCM):c.759+2T>C
|
rs902753970
|
|
|
NM_020937.4(FANCM):c.759+2dup
|
rs1885856344
|
|
|
NM_020937.4(FANCM):c.75C>T (p.Cys25=)
|
rs1885469049
|
|
|
NM_020937.4(FANCM):c.760-19C>T
|
rs2139151206
|
|
|
NM_020937.4(FANCM):c.760-19_760-16del
|
|
|
|
NM_020937.4(FANCM):c.760-4A>G
|
rs1886615518
|
|
|
NM_020937.4(FANCM):c.760-6A>G
|
rs2139151266
|
|
|
NM_020937.4(FANCM):c.760G>A (p.Ala254Thr)
|
|
|
|
NM_020937.4(FANCM):c.760G>T (p.Ala254Ser)
|
|
|
|
NM_020937.4(FANCM):c.778A>G (p.Thr260Ala)
|
rs1886617707
|
|
|
NM_020937.4(FANCM):c.784C>T (p.Leu262=)
|
rs574219989
|
|
|
NM_020937.4(FANCM):c.786G>A (p.Leu262=)
|
|
|
|
NM_020937.4(FANCM):c.787C>A (p.Leu263Ile)
|
rs1594766754
|
|
|
NM_020937.4(FANCM):c.78C>T (p.Ser26=)
|
|
|
|
NM_020937.4(FANCM):c.790A>G (p.Ile264Val)
|
|
|
|
NM_020937.4(FANCM):c.799A>G (p.Ile267Val)
|
|
|
|
NM_020937.4(FANCM):c.80C>T (p.Ser27Phe)
|
rs1885469771
|
|
|
NM_020937.4(FANCM):c.815A>T (p.Glu272Val)
|
rs1456725108
|
|
|
NM_020937.4(FANCM):c.818A>T (p.Asp273Val)
|
|
|
|
NM_020937.4(FANCM):c.81C>T (p.Ser27=)
|
rs1388168603
|
|
|
NM_020937.4(FANCM):c.81del (p.Gly28fs)
|
rs2139099848
|
|
|
NM_020937.4(FANCM):c.821C>A (p.Ser274Tyr)
|
|
|
|
NM_020937.4(FANCM):c.825A>G (p.Pro275=)
|
|
|
|
NM_020937.4(FANCM):c.830T>C (p.Ile277Thr)
|
|
|
|
NM_020937.4(FANCM):c.836C>T (p.Thr279Ile)
|
rs556857964
|
|
|
NM_020937.4(FANCM):c.83G>T (p.Gly28Val)
|
rs1885470299
|
|
|
NM_020937.4(FANCM):c.844C>T (p.His282Tyr)
|
rs955969135
|
|
|
NM_020937.4(FANCM):c.845A>C (p.His282Pro)
|
|
|
|
NM_020937.4(FANCM):c.851G>A (p.Arg284Lys)
|
rs1886623846
|
|
|
NM_020937.4(FANCM):c.853A>G (p.Lys285Glu)
|
rs1428587779
|
|
|
NM_020937.4(FANCM):c.855del (p.Val286fs)
|
rs2139151883
|
|
|
NM_020937.4(FANCM):c.865C>G (p.Leu289Val)
|
rs1594766833
|
|
|
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
|
|
|
|
NM_020937.4(FANCM):c.866T>C (p.Leu289Pro)
|
rs1594766838
|
|
|
NM_020937.4(FANCM):c.871G>A (p.Val291Ile)
|
rs1566732276
|
|
|
NM_020937.4(FANCM):c.874C>A (p.Pro292Thr)
|
rs142747831
|
|
|
NM_020937.4(FANCM):c.876G>A (p.Pro292=)
|
rs150757891
|
|
|
NM_020937.4(FANCM):c.876G>T (p.Pro292=)
|
rs150757891
|
|
|
NM_020937.4(FANCM):c.877C>T (p.Leu293Phe)
|
rs1886627288
|
|
|
NM_020937.4(FANCM):c.888A>G (p.Glu296=)
|
|
|
|
NM_020937.4(FANCM):c.893C>T (p.Ala298Val)
|
rs1316547284
|
|
|
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)
|
|
|
|
NM_020937.4(FANCM):c.903A>G (p.Gln301=)
|
|
|
|
NM_020937.4(FANCM):c.908C>A (p.Thr303Asn)
|
rs980293400
|
|
|
NM_020937.4(FANCM):c.909_910del (p.Ile305fs)
|
rs1886630094
|
|
|
NM_020937.4(FANCM):c.912T>C (p.Tyr304=)
|
rs2139152230
|
|
|
NM_020937.4(FANCM):c.915C>T (p.Ile305=)
|
|
|
|
NM_020937.4(FANCM):c.918+12_918+13del
|
|
|
|
NM_020937.4(FANCM):c.918+17A>G
|
|
|
|
NM_020937.4(FANCM):c.918+8A>G
|
rs917973556
|
|
|
NM_020937.4(FANCM):c.919-19A>G
|
|
|
|
NM_020937.4(FANCM):c.920T>C (p.Ile307Thr)
|
rs2139159942
|
|
|
NM_020937.4(FANCM):c.924G>A (p.Leu308=)
|
rs756513033
|
|
|
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys)
|
rs372710600
|
|
|
NM_020937.4(FANCM):c.938G>T (p.Arg313Leu)
|
rs767487612
|
|
|
NM_020937.4(FANCM):c.941C>G (p.Ser314Cys)
|
rs774801698
|
|
|
NM_020937.4(FANCM):c.956A>G (p.Asn319Ser)
|
|
|
|
NM_020937.4(FANCM):c.958G>A (p.Val320Ile)
|
|
|
|
NM_020937.4(FANCM):c.95C>T (p.Pro32Leu)
|
|
|
|
NM_020937.4(FANCM):c.964A>T (p.Met322Leu)
|
rs1886810282
|
|
|
NM_020937.4(FANCM):c.971G>C (p.Arg324Thr)
|
rs2139160191
|
|
|
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser)
|
rs1886810472
|
|
|
NM_020937.4(FANCM):c.989C>T (p.Thr330Ile)
|
rs759774206
|
|
|
NM_020937.4(FANCM):c.98A>C (p.Gln33Pro)
|
|
|
|
NM_020937.4(FANCM):c.991A>G (p.Lys331Glu)
|
|
|
|
NM_020937.4(FANCM):c.993A>G (p.Lys331=)
|
|
|
|
NM_020937.4(FANCM):c.998A>G (p.Gln333Arg)
|
rs922819033
|
|
|
NM_020937.4(FANCM):c.9A>G (p.Gly3=)
|
rs2139099234
|
|
|
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del)
|
rs2150885287
|
|
|
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
|
|
|
|
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
|
|
|
|
NM_021922.3(FANCE):c.1014C>A (p.Asp338Glu)
|
|
|
|
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)
|
|
|
|
NM_021922.3(FANCE):c.1023C>T (p.Leu341=)
|
rs1767435236
|
|
|
NM_021922.3(FANCE):c.1029G>A (p.Arg343=)
|
|
|
|
NM_021922.3(FANCE):c.1031T>A (p.Leu344His)
|
rs2150894790
|
|
|
NM_021922.3(FANCE):c.1036A>C (p.Thr346Pro)
|
rs1767436675
|
|
|
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)
|
|
|
|
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro)
|
|
|
|
NM_021922.3(FANCE):c.1044G>A (p.Leu348=)
|
|
|
|
NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp)
|
|
|
|
NM_021922.3(FANCE):c.1051C>G (p.Leu351Val)
|
|
|
|
NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala)
|
rs878855070
|
|
|
NM_021922.3(FANCE):c.1058C>T (p.Pro353Leu)
|
rs587778339
|
|
|
NM_021922.3(FANCE):c.105G>A (p.Ala35=)
|
|
|
|
NM_021922.3(FANCE):c.105G>C (p.Ala35=)
|
|
|
|
NM_021922.3(FANCE):c.1068C>T (p.Ser356=)
|
|
|
|
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)
|
|
|
|
NM_021922.3(FANCE):c.1087C>T (p.Leu363=)
|
|
|
|
NM_021922.3(FANCE):c.108G>T (p.Gly36=)
|
|
|
|
NM_021922.3(FANCE):c.1096del (p.Ser366fs)
|
rs1272613429
|
|
|
NM_021922.3(FANCE):c.1113+10T>C
|
|
|
|
NM_021922.3(FANCE):c.1113+11T>C
|
|
|
|
NM_021922.3(FANCE):c.1113+15A>T
|
|
|
|
NM_021922.3(FANCE):c.1113+1G>A
|
rs2150895088
|
|
|
NM_021922.3(FANCE):c.1113+20C>T
|
|
|
|
NM_021922.3(FANCE):c.1113+6T>C
|
rs764119752
|
|
|
NM_021922.3(FANCE):c.1114-11G>T
|
|
|
|
NM_021922.3(FANCE):c.1114-16T>G
|
rs2150896195
|
|
|
NM_021922.3(FANCE):c.1114-17C>T
|
|
|
|
NM_021922.3(FANCE):c.1114-17del
|
|
|
|
NM_021922.3(FANCE):c.1114-3T>C
|
|
|
|
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA
|
rs1767491456
|
|
|
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro)
|
rs113175592
|
|
|
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)
|
|
|
|
NM_021922.3(FANCE):c.1131C>A (p.Ser377=)
|
|
|
|
NM_021922.3(FANCE):c.1136C>G (p.Ala379Gly)
|
rs1233194875
|
|
|
NM_021922.3(FANCE):c.1139C>T (p.Ser380Phe)
|
|
|
|
NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly)
|
|
|
|
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs)
|
rs2150896309
|
|
|
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro)
|
rs2150896332
|
|
|
NM_021922.3(FANCE):c.1155T>C (p.Thr385=)
|
|
|
|
NM_021922.3(FANCE):c.1158C>A (p.Ala386=)
|
|
|
|
NM_021922.3(FANCE):c.1164C>T (p.Thr388=)
|
rs2150896392
|
|
|
NM_021922.3(FANCE):c.1176C>G (p.Ala392=)
|
rs1581704152
|
|
|
NM_021922.3(FANCE):c.1176C>T (p.Ala392=)
|
|
|
|
NM_021922.3(FANCE):c.1182T>C (p.Tyr394=)
|
|
|
|
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala)
|
rs759782690
|
|
|
NM_021922.3(FANCE):c.118G>C (p.Ala40Pro)
|
rs2150885696
|
|
|
NM_021922.3(FANCE):c.118del (p.Ala40fs)
|
|
|
|
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)
|
|
|
|
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe)
|
rs1256696675
|
|
|
NM_021922.3(FANCE):c.1206C>T (p.Leu402=)
|
|
|
|
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)
|
rs1767153896
|
|
|
NM_021922.3(FANCE):c.1221C>G (p.Leu407=)
|
rs752130850
|
|
|
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp)
|
rs1767499219
|
|
|
NM_021922.3(FANCE):c.1237+14C>T
|
|
|
|
NM_021922.3(FANCE):c.1237+18C>T
|
|
|
|
NM_021922.3(FANCE):c.1237+1G>A
|
|
|
|
NM_021922.3(FANCE):c.1237+20C>T
|
|
|
|
NM_021922.3(FANCE):c.1237+7C>T
|
|
|
|
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser)
|
rs757769907
|
|
|
NM_021922.3(FANCE):c.1238-13del
|
|
|
|
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)
|
rs1561792535
|
|
|
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
|
|
|
|
NM_021922.3(FANCE):c.1254G>A (p.Glu418=)
|
|
|
|
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)
|
|
|
|
NM_021922.3(FANCE):c.1258C>T (p.Leu420=)
|
|
|
|
NM_021922.3(FANCE):c.1260G>T (p.Leu420=)
|
|
|
|
NM_021922.3(FANCE):c.1260_1268del (p.Cys421_Leu423del)
|
rs2150897160
|
|
|
NM_021922.3(FANCE):c.1262G>A (p.Cys421Tyr)
|
rs936988373
|
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
|
NM_021922.3(FANCE):c.1266C>T (p.Cys422=)
|
|
|
|
NM_021922.3(FANCE):c.1270G>T (p.Val424Leu)
|
rs2150897194
|
|
|
NM_021922.3(FANCE):c.1276A>G (p.Met426Val)
|
rs764652720
|
|
|
NM_021922.3(FANCE):c.127G>A (p.Gly43Ser)
|
rs892819655
|
|
|
NM_021922.3(FANCE):c.1283C>G (p.Ser428Cys)
|
|
|
|
NM_021922.3(FANCE):c.1284C>G (p.Ser428=)
|
|
|
|
NM_021922.3(FANCE):c.128G>T (p.Gly43Val)
|
rs1767154137
|
|
|
NM_021922.3(FANCE):c.1296T>C (p.Asp432=)
|
|
|
|
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)
|
|
|
|
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg)
|
rs2150897316
|
|
|
NM_021922.3(FANCE):c.1316+13G>A
|
|
|
|
NM_021922.3(FANCE):c.1316+20T>C
|
rs2150897379
|
|
|
NM_021922.3(FANCE):c.1317-18A>G
|
|
|
|
NM_021922.3(FANCE):c.1317-7T>C
|
|
|
|
NM_021922.3(FANCE):c.1317-9G>A
|
|
|
|
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)
|
|
|
|
NM_021922.3(FANCE):c.1332G>A (p.Leu444=)
|
|
|
|
NM_021922.3(FANCE):c.1336T>C (p.Trp446Arg)
|
rs1554122137
|
|
|
NM_021922.3(FANCE):c.1343A>C (p.Glu448Ala)
|
rs2150898436
|
|
|
NM_021922.3(FANCE):c.1344G>A (p.Glu448=)
|
|
|
|
NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)
|
|
|
|
NM_021922.3(FANCE):c.134G>T (p.Gly45Val)
|
|
|
|
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu)
|
|
|
|
NM_021922.3(FANCE):c.1353C>T (p.Phe451=)
|
rs2150898463
|
|
|
NM_021922.3(FANCE):c.1354T>C (p.Leu452=)
|
|
|
|
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)
|
|
|
|
NM_021922.3(FANCE):c.1359G>A (p.Val453=)
|
|
|
|
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
|
|
|
|
NM_021922.3(FANCE):c.1363del (p.Gln455fs)
|
rs1767552099
|
|
|
NM_021922.3(FANCE):c.1371C>T (p.Leu457=)
|
|
|
|
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val)
|
|
|
|
NM_021922.3(FANCE):c.1374A>G (p.Leu458=)
|
|
|
|
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly)
|
rs200535245
|
|
|
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)
|
rs200535245
|
|
|
NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln)
|
|
|
|
NM_021922.3(FANCE):c.1379G>T (p.Arg460Leu)
|
rs541746126
|
|
|
NM_021922.3(FANCE):c.1383+10C>T
|
rs1060504374
|
|
|
NM_021922.3(FANCE):c.1383+12G>T
|
|
|
|
NM_021922.3(FANCE):c.1383+13C>T
|
|
|
|
NM_021922.3(FANCE):c.1383+15C>G
|
rs1426965534
|
|
|
NM_021922.3(FANCE):c.1383+16T>C
|
|
|
|
NM_021922.3(FANCE):c.1383+17G>A
|
|
|
|
NM_021922.3(FANCE):c.1383+17G>C
|
|
|
|
NM_021922.3(FANCE):c.1383+20dup
|
rs770300367
|
|
|
NM_021922.3(FANCE):c.1383+6C>G
|
rs763606597
|
|
|
NM_021922.3(FANCE):c.1383+8G>C
|
|
|
|
NM_021922.3(FANCE):c.1384-10A>T
|
rs2150901325
|
|
|
NM_021922.3(FANCE):c.1384-16C>A
|
|
|
|
NM_021922.3(FANCE):c.1384-19C>T
|
|
|
|
NM_021922.3(FANCE):c.138G>A (p.Val46=)
|
rs2150885789
|
|
|
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)
|
|
|
|
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile)
|
rs759978029
|
|
|
NM_021922.3(FANCE):c.1398T>C (p.Pro466=)
|
|
|
|
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)
|
|
|
|
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)
|
|
|
|
NM_021922.3(FANCE):c.1413C>T (p.Val471=)
|
|
|
|
NM_021922.3(FANCE):c.141C>T (p.Leu47=)
|
|
|
|
NM_021922.3(FANCE):c.1428C>T (p.Leu476=)
|
|
|
|
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu)
|
rs1242729665
|
|
|
NM_021922.3(FANCE):c.1440G>T (p.Gly480=)
|
rs757745455
|
|
|
NM_021922.3(FANCE):c.1452C>G (p.Thr484=)
|
|
|
|
NM_021922.3(FANCE):c.1455C>T (p.Thr485=)
|
|
|
|
NM_021922.3(FANCE):c.1459A>G (p.Met487Val)
|
rs373735272
|
|
|
NM_021922.3(FANCE):c.1464C>G (p.Ala488=)
|
|
|
|
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe)
|
rs1345207143
|
|
|
NM_021922.3(FANCE):c.1476C>T (p.Leu492=)
|
|
|
|
NM_021922.3(FANCE):c.1478T>C (p.Met493Thr)
|
rs979790377
|
|
|
NM_021922.3(FANCE):c.1484C>T (p.Thr495Ile)
|
rs1442055811
|
|
|
NM_021922.3(FANCE):c.1486G>A (p.Val496Met)
|
rs2150901627
|
|
|
NM_021922.3(FANCE):c.1488G>A (p.Val496=)
|
|
|
|
NM_021922.3(FANCE):c.1494C>T (p.Thr498=)
|
|
|
|
NM_021922.3(FANCE):c.1497G>C (p.Lys499Asn)
|
rs2150901647
|
|
|
NM_021922.3(FANCE):c.149T>C (p.Leu50Pro)
|
rs1767156443
|
|
|
NM_021922.3(FANCE):c.14A>T (p.Asp5Val)
|
rs1767146702
|
|
|
NM_021922.3(FANCE):c.1501C>T (p.Gln501Ter)
|
rs746321808
|
|
|
NM_021922.3(FANCE):c.1507A>T (p.Asn503Tyr)
|
rs2150901658
|
|
|
NM_021922.3(FANCE):c.1509+13A>G
|
|
|
|
NM_021922.3(FANCE):c.1509+14G>A
|
|
|
|
NM_021922.3(FANCE):c.1509+14G>C
|
|
|
|
NM_021922.3(FANCE):c.1509+16G>T
|
rs2150901703
|
|
|
NM_021922.3(FANCE):c.1509+17C>A
|
rs748424208
|
|
|
NM_021922.3(FANCE):c.1509+3G>A
|
rs773938335
|
|
|
NM_021922.3(FANCE):c.1509+7A>G
|
rs1021695027
|
|
|
NM_021922.3(FANCE):c.1509+8T>G
|
|
|
|
NM_021922.3(FANCE):c.1510-10T>G
|
|
|
|
NM_021922.3(FANCE):c.1510-13T>A
|
|
|
|
NM_021922.3(FANCE):c.1510-15T>C
|
|
|
|
NM_021922.3(FANCE):c.1510-17T>C
|
|
|
|
NM_021922.3(FANCE):c.1510-6C>T
|
|
|
|
NM_021922.3(FANCE):c.1510-9T>C
|
rs369210475
|
|
|
NM_021922.3(FANCE):c.1512C>T (p.Ile504=)
|
|
|
|
NM_021922.3(FANCE):c.1515T>C (p.Thr505=)
|
|
|
|
NM_021922.3(FANCE):c.1518G>A (p.Glu506=)
|
|
|
|
NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala)
|
|
|
|
NM_021922.3(FANCE):c.1528C>G (p.Leu510Val)
|
|
|
|
NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys)
|
|
|
|
NM_021922.3(FANCE):c.153C>T (p.Gly51=)
|
|
|
|
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr)
|
rs373712711
|
|
|
NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)
|
|
|
|
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln)
|
rs767896075
|
|
|
NM_021922.3(FANCE):c.1587C>T (p.Ala529=)
|
|
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
|
NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter)
|
|
|
|
NM_021922.3(FANCE):c.1598A>T (p.His533Leu)
|
|
|
|
NM_021922.3(FANCE):c.159C>G (p.Arg53=)
|
|
|
|
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)
|
|
|
|
NM_021922.3(FANCE):c.1600T>C (p.Leu534=)
|
|
|
|
NM_021922.3(FANCE):c.1606C>G (p.Pro536Ala)
|
rs1060501873
|
|
|
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg)
|
rs1767835596
|
|
|
NM_021922.3(FANCE):c.1608C>T (p.Pro536=)
|
|
|
|
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?)
|
rs1767835895
|
|
|
NM_021922.3(FANCE):c.162C>T (p.Gly54=)
|
|
|
|
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)
|
rs2150885915
|
|
|
NM_021922.3(FANCE):c.169C>A (p.Pro57Thr)
|
rs1561787173
|
|
|
NM_021922.3(FANCE):c.169C>T (p.Pro57Ser)
|
rs1561787173
|
|
|
NM_021922.3(FANCE):c.174C>T (p.Phe58=)
|
|
|
|
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr)
|
rs1581696567
|
|
|
NM_021922.3(FANCE):c.181G>C (p.Gly61Arg)
|
rs2150885964
|
|
|
NM_021922.3(FANCE):c.189G>T (p.Leu63Phe)
|
rs2150885989
|
|
|
NM_021922.3(FANCE):c.18G>T (p.Ala6=)
|
rs962145261
|
|
|
NM_021922.3(FANCE):c.192C>G (p.Leu64=)
|
|
|
|
NM_021922.3(FANCE):c.199C>T (p.Leu67=)
|
rs1161408735
|
|
|
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro)
|
rs1767159493
|
|
|
NM_021922.3(FANCE):c.207G>T (p.Arg69=)
|
|
|
|
NM_021922.3(FANCE):c.209del (p.Glu70fs)
|
|
|
|
NM_021922.3(FANCE):c.216G>A (p.Pro72=)
|
|
|
|
NM_021922.3(FANCE):c.221T>C (p.Val74Ala)
|
|
|
|
NM_021922.3(FANCE):c.222G>C (p.Val74=)
|
rs1015415361
|
|
|
NM_021922.3(FANCE):c.222G>T (p.Val74=)
|
rs1015415361
|
|
|
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro)
|
rs1309426375
|
|
|
NM_021922.3(FANCE):c.229C>T (p.Pro77Ser)
|
rs587778335
|
|
|
NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)
|
|
|
|
NM_021922.3(FANCE):c.239G>A (p.Arg80His)
|
rs1243363612
|
|
|
NM_021922.3(FANCE):c.248+11G>A
|
|
|
|
NM_021922.3(FANCE):c.248+11G>C
|
|
|
|
NM_021922.3(FANCE):c.248+13C>T
|
|
|
|
NM_021922.3(FANCE):c.248+14C>A
|
|
|
|
NM_021922.3(FANCE):c.248+19C>T
|
|
|
|
NM_021922.3(FANCE):c.248+1G>A
|
rs1480350743
|
|
|
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro)
|
rs1767163490
|
|
|
NM_021922.3(FANCE):c.249-11C>A
|
|
|
|
NM_021922.3(FANCE):c.249-18T>C
|
|
|
|
NM_021922.3(FANCE):c.249G>T (p.Leu83=)
|
|
|
|
NM_021922.3(FANCE):c.256C>G (p.Leu86Val)
|
|
|
|
NM_021922.3(FANCE):c.257T>C (p.Leu86Pro)
|
|
|
|
NM_021922.3(FANCE):c.259T>C (p.Leu87=)
|
|
|
|
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr)
|
rs956659254
|
|
|
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)
|
|
|
|
NM_021922.3(FANCE):c.265C>A (p.Arg89=)
|
|
|
|
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln)
|
rs45600543
|
|
|
NM_021922.3(FANCE):c.266G>C (p.Arg89Pro)
|
rs45600543
|
|
|
NM_021922.3(FANCE):c.273C>T (p.Pro91=)
|
|
|
|
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu)
|
rs1767301656
|
|
|
NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)
|
|
|
|
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
|
rs1462766132
|
|
|
NM_021922.3(FANCE):c.304C>T (p.Leu102=)
|
|
|
|
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG
|
rs2150889955
|
|
|
NM_021922.3(FANCE):c.313G>A (p.Val105Ile)
|
rs373159305
|
|
|
NM_021922.3(FANCE):c.313G>C (p.Val105Leu)
|
rs373159305
|
|
|
NM_021922.3(FANCE):c.318G>A (p.Arg106=)
|
|
|
|
NM_021922.3(FANCE):c.325C>T (p.Leu109=)
|
|
|
|
NM_021922.3(FANCE):c.334del (p.Ser112fs)
|
rs1479445348
|
|
|
NM_021922.3(FANCE):c.339del (p.Leu114fs)
|
|
|
|
NM_021922.3(FANCE):c.342C>T (p.Leu114=)
|
|
|
|
NM_021922.3(FANCE):c.345C>T (p.Leu115=)
|
|
|
|
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
|
|
|
|
NM_021922.3(FANCE):c.351G>A (p.Val117=)
|
|
|
|
NM_021922.3(FANCE):c.358A>G (p.Ile120Val)
|
rs201961713
|
|
|
NM_021922.3(FANCE):c.363C>G (p.Ala121=)
|
|
|
|
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)
|
|
|
|
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)
|
|
|
|
NM_021922.3(FANCE):c.373C>T (p.Leu125=)
|
|
|
|
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)
|
|
|
|
NM_021922.3(FANCE):c.387A>C (p.Pro129=)
|
rs4713867
|
|
|
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His)
|
rs2150890289
|
|
|
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
|
|
|
|
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)
|
|
|
|
NM_021922.3(FANCE):c.39C>T (p.Gly13=)
|
|
|
|
NM_021922.3(FANCE):c.405C>T (p.Ala135=)
|
rs1767311517
|
|
|
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)
|
|
|
|
NM_021922.3(FANCE):c.415T>C (p.Leu139=)
|
|
|
|
NM_021922.3(FANCE):c.421C>A (p.Arg141=)
|
|
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
|
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)
|
|
|
|
NM_021922.3(FANCE):c.426G>A (p.Arg142=)
|
|
|
|
NM_021922.3(FANCE):c.430T>C (p.Leu144=)
|
rs1377892215
|
|
|
NM_021922.3(FANCE):c.435G>C (p.Gly145=)
|
|
|
|
NM_021922.3(FANCE):c.438G>A (p.Val146=)
|
|
|
|
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu)
|
rs1220564322
|
|
|
NM_021922.3(FANCE):c.444C>G (p.Thr148=)
|
|
|
|
NM_021922.3(FANCE):c.447C>G (p.Ser149=)
|
|
|
|
NM_021922.3(FANCE):c.448A>G (p.Met150Val)
|
rs1489457999
|
|
|
NM_021922.3(FANCE):c.456A>C (p.Gly152=)
|
|
|
|
NM_021922.3(FANCE):c.461C>T (p.Ser154Phe)
|
rs1016962570
|
|
|
NM_021922.3(FANCE):c.463C>G (p.Pro155Ala)
|
rs2150890589
|
|
|
NM_021922.3(FANCE):c.463C>T (p.Pro155Ser)
|
rs2150890589
|
|
|
NM_021922.3(FANCE):c.465A>G (p.Pro155=)
|
|
|
|
NM_021922.3(FANCE):c.465A>T (p.Pro155=)
|
|
|
|
NM_021922.3(FANCE):c.477A>G (p.Arg159=)
|
|
|
|
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys)
|
rs1767316578
|
|
|
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)
|
rs886061327
|
|
|
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
|
|
|
|
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
|
|
|
|
NM_021922.3(FANCE):c.519G>A (p.Leu173=)
|
|
|
|
NM_021922.3(FANCE):c.519G>C (p.Leu173=)
|
|
|
|
NM_021922.3(FANCE):c.519G>T (p.Leu173=)
|
|
|
|
NM_021922.3(FANCE):c.51G>T (p.Ala17=)
|
|
|
|
NM_021922.3(FANCE):c.521G>T (p.Gly174Val)
|
rs1014679374
|
|
|
NM_021922.3(FANCE):c.525C>T (p.Gly175=)
|
|
|
|
NM_021922.3(FANCE):c.531G>A (p.Arg177=)
|
|
|
|
NM_021922.3(FANCE):c.538del (p.Ser180fs)
|
|
|
|
NM_021922.3(FANCE):c.539C>G (p.Ser180Cys)
|
|
|
|
NM_021922.3(FANCE):c.541C>T (p.Pro181Ser)
|
|
|
|
NM_021922.3(FANCE):c.542C>T (p.Pro181Leu)
|
rs1767323169
|
|
|
NM_021922.3(FANCE):c.543C>G (p.Pro181=)
|
|
|
|
NM_021922.3(FANCE):c.54C>T (p.Pro18=)
|
|
|
|
NM_021922.3(FANCE):c.552A>G (p.Pro184=)
|
|
|
|
NM_021922.3(FANCE):c.561A>G (p.Glu187=)
|
rs1554121329
|
|
|
NM_021922.3(FANCE):c.564A>G (p.Glu188=)
|
|
|
|
NM_021922.3(FANCE):c.567G>A (p.Glu189=)
|
|
|
|
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu)
|
rs2150891086
|
|
|
NM_021922.3(FANCE):c.597A>G (p.Lys199=)
|
|
|
|
NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)
|
|
|
|
NM_021922.3(FANCE):c.5C>T (p.Ala2Val)
|
|
|
|
NM_021922.3(FANCE):c.600C>T (p.Arg200=)
|
|
|
|
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
|
|
|
|
NM_021922.3(FANCE):c.618A>G (p.Glu206=)
|
|
|
|
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)
|
|
|
|
NM_021922.3(FANCE):c.627C>G (p.Ala209=)
|
|
|
|
NM_021922.3(FANCE):c.636G>A (p.Glu212=)
|
|
|
|
NM_021922.3(FANCE):c.642G>A (p.Lys214=)
|
|
|
|
NM_021922.3(FANCE):c.663G>T (p.Arg221=)
|
|
|
|
NM_021922.3(FANCE):c.677A>C (p.Glu226Ala)
|
rs2150891378
|
|
|
NM_021922.3(FANCE):c.679G>A (p.Glu227Lys)
|
rs1287242303
|
|
|
NM_021922.3(FANCE):c.691_693del (p.Lys231del)
|
rs1767333988
|
|
|
NM_021922.3(FANCE):c.698G>A (p.Arg233Lys)
|
|
|
|
NM_021922.3(FANCE):c.702C>G (p.Pro234=)
|
|
|
|
NM_021922.3(FANCE):c.702C>T (p.Pro234=)
|
|
|
|
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)
|
|
|
|
NM_021922.3(FANCE):c.711G>A (p.Lys237=)
|
|
|
|
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp)
|
rs1045892220
|
|
|
NM_021922.3(FANCE):c.720A>G (p.Glu240=)
|
|
|
|
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe)
|
rs933204286
|
|
|
NM_021922.3(FANCE):c.723C>T (p.Ser241=)
|
|
|
|
NM_021922.3(FANCE):c.726G>A (p.Leu242=)
|
|
|
|
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)
|
rs45451605
|
|
|
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn)
|
rs1767336620
|
|
|
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr)
|
rs1330517530
|
|
|
NM_021922.3(FANCE):c.743C>T (p.Ala248Val)
|
rs1767337048
|
|
|
NM_021922.3(FANCE):c.746C>T (p.Ser249Phe)
|
rs1036490024
|
|
|
NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)
|
|
|
|
NM_021922.3(FANCE):c.751A>G (p.Ile251Val)
|
|
|
|
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)
|
|
|
|
NM_021922.3(FANCE):c.756G>A (p.Lys252=)
|
|
|
|
NM_021922.3(FANCE):c.759C>T (p.Asp253=)
|
rs200243667
|
|
|
NM_021922.3(FANCE):c.75C>T (p.Pro25=)
|
|
|
|
NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)
|
|
|
|
NM_021922.3(FANCE):c.768C>T (p.Val256=)
|
|
|
|
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
|
|
|
|
NM_021922.3(FANCE):c.777T>G (p.Val259=)
|
|
|
|
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)
|
|
|
|
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)
|
|
|
|
NM_021922.3(FANCE):c.798G>T (p.Ser266=)
|
rs746542545
|
|
|
NM_021922.3(FANCE):c.807T>C (p.Asp269=)
|
|
|
|
NM_021922.3(FANCE):c.812C>T (p.Ala271Val)
|
rs1060501874
|
|
|
NM_021922.3(FANCE):c.813T>C (p.Ala271=)
|
|
|
|
NM_021922.3(FANCE):c.818G>T (p.Gly273Val)
|
rs1468356265
|
|
|
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)
|
|
|
|
NM_021922.3(FANCE):c.832T>C (p.Leu278=)
|
|
|
|
NM_021922.3(FANCE):c.838T>C (p.Leu280=)
|
|
|
|
NM_021922.3(FANCE):c.855+17A>T
|
|
|
|
NM_021922.3(FANCE):c.855+18C>G
|
|
|
|
NM_021922.3(FANCE):c.855+4C>G
|
|
|
|
NM_021922.3(FANCE):c.855+8G>A
|
|
|
|
NM_021922.3(FANCE):c.855+9G>A
|
|
|
|
NM_021922.3(FANCE):c.856-11C>T
|
|
|
|
NM_021922.3(FANCE):c.856-14G>T
|
|
|
|
NM_021922.3(FANCE):c.856-18C>T
|
|
|
|
NM_021922.3(FANCE):c.856-20G>T
|
|
|
|
NM_021922.3(FANCE):c.856-6C>T
|
|
|
|
NM_021922.3(FANCE):c.856-7T>C
|
|
|
|
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg)
|
rs1767398617
|
|
|
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)
|
|
|
|
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
|
|
|
|
NM_021922.3(FANCE):c.880C>T (p.Leu294=)
|
|
|
|
NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1])
|
rs780106496
|
|
|
NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla)
|
|
|
|
NM_021922.3(FANCE):c.892T>A (p.Leu298Met)
|
|
|
|
NM_021922.3(FANCE):c.897G>A (p.Glu299=)
|
rs2150893491
|
|
|
NM_021922.3(FANCE):c.901-10G>A
|
|
|
|
NM_021922.3(FANCE):c.901-15G>C
|
|
|
|
NM_021922.3(FANCE):c.901-3del
|
|
|
|
NM_021922.3(FANCE):c.901-5C>T
|
|
|
|
NM_021922.3(FANCE):c.901-6C>T
|
|
|
|
NM_021922.3(FANCE):c.901-7T>C
|
rs2150893886
|
|
|
NM_021922.3(FANCE):c.903G>A (p.Gly301=)
|
rs781287698
|
|
|
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln)
|
rs1470052853
|
|
|
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
|
|
|
|
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)
|
rs1767152512
|
|
|
NM_021922.3(FANCE):c.927C>G (p.Pro309=)
|
rs763403812
|
|
|
NM_021922.3(FANCE):c.927C>T (p.Pro309=)
|
|
|
|
NM_021922.3(FANCE):c.928C>G (p.Pro310Ala)
|
|
|
|
NM_021922.3(FANCE):c.928C>T (p.Pro310Ser)
|
rs372788363
|
|
|
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)
|
rs139600847
|
|
|
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg)
|
rs139600847
|
|
|
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu)
|
rs139600847
|
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
|
NM_021922.3(FANCE):c.930A>G (p.Pro310=)
|
|
|
|
NM_021922.3(FANCE):c.931dup (p.Val311fs)
|
|
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
|
NM_021922.3(FANCE):c.956G>A (p.Cys319Tyr)
|
rs1440691539
|
|
|
NM_021922.3(FANCE):c.959G>A (p.Ser320Asn)
|
rs1767417019
|
|
|
NM_021922.3(FANCE):c.95C>A (p.Ala32Glu)
|
rs924383249
|
|
|
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter)
|
rs1767417868
|
|
|
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg)
|
rs1034716031
|
|
|
NM_021922.3(FANCE):c.969+11A>T
|
|
|
|
NM_021922.3(FANCE):c.969+18C>T
|
|
|
|
NM_021922.3(FANCE):c.969+20T>A
|
|
|
|
NM_021922.3(FANCE):c.969+7C>T
|
|
|
|
NM_021922.3(FANCE):c.969+9A>C
|
|
|
|
NM_021922.3(FANCE):c.96G>T (p.Ala32=)
|
|
|
|
NM_021922.3(FANCE):c.970-12C>T
|
|
|
|
NM_021922.3(FANCE):c.970-16C>G
|
rs117779586
|
|
|
NM_021922.3(FANCE):c.970-18C>A
|
rs1376629458
|
|
|
NM_021922.3(FANCE):c.970-18C>T
|
|
|
|
NM_021922.3(FANCE):c.970-20C>G
|
rs765193137
|
|
|
NM_021922.3(FANCE):c.970-6A>G
|
|
|
|
NM_021922.3(FANCE):c.970-6A>T
|
rs1206121566
|
|
|
NM_021922.3(FANCE):c.970-8G>A
|
|
|
|
NM_021922.3(FANCE):c.970-9T>G
|
|
|
|
NM_021922.3(FANCE):c.975C>T (p.Asp325=)
|
|
|
|
NM_021922.3(FANCE):c.976T>C (p.Leu326=)
|
|
|
|
NM_021922.3(FANCE):c.981G>T (p.Leu327=)
|
rs772385794
|
|
|
NM_021922.3(FANCE):c.983G>T (p.Cys328Phe)
|
|
|
|
NM_021922.3(FANCE):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_021922.3(FANCE):c.988C>G (p.Gln330Glu)
|
rs1263409404
|
|
|
NM_021922.3(FANCE):c.991C>G (p.Leu331Val)
|
rs45468994
|
|
|
NM_021922.3(FANCE):c.992T>C (p.Leu331Pro)
|
|
|
|
NM_021922.3(FANCE):c.997C>T (p.Leu333Phe)
|
rs2150894670
|
|
|
NM_022725.4(FANCF):c.-10C>T
|
rs3740615
|
|
|
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val)
|
rs772941983
|
|
|
NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly)
|
rs2133796304
|
|
|
NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)
|
|
|
|
NM_022725.4(FANCF):c.1035C>T (p.Ser345=)
|
rs1554963603
|
|
|
NM_022725.4(FANCF):c.1038C>T (p.Ile346=)
|
|
|
|
NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter)
|
rs587778343
|
|
|
NM_022725.4(FANCF):c.1044A>G (p.Thr348=)
|
rs2133796228
|
|
|
NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)
|
|
|
|
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp)
|
rs2133798660
|
|
|
NM_022725.4(FANCF):c.1064G>A (p.Arg355His)
|
rs758175326
|
|
|
NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg)
|
rs2133796173
|
|
|
NM_022725.4(FANCF):c.1089A>C (p.Gln363His)
|
rs1858613638
|
|
|
NM_022725.4(FANCF):c.10C>T (p.Leu4Phe)
|
|
|
|
NM_022725.4(FANCF):c.1123T>C (p.Ter375Gln)
|
|
|
|
NM_022725.4(FANCF):c.115C>T (p.Arg39Cys)
|
|
|
|
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys)
|
rs1359473267
|
|
|
NM_022725.4(FANCF):c.123dup (p.Arg42fs)
|
rs1858636931
|
|
|
NM_022725.4(FANCF):c.130A>T (p.Ile44Phe)
|
|
|
|
NM_022725.4(FANCF):c.133_136del (p.His45fs)
|
|
|
|
NM_022725.4(FANCF):c.136C>G (p.Arg46Gly)
|
rs758925111
|
|
|
NM_022725.4(FANCF):c.137G>A (p.Arg46Gln)
|
|
|
|
NM_022725.4(FANCF):c.139C>T (p.Arg47Cys)
|
|
|
|
NM_022725.4(FANCF):c.140_141delinsTT (p.Arg47Leu)
|
|
|
|
NM_022725.4(FANCF):c.147T>G (p.Gly49=)
|
|
|
|
NM_022725.4(FANCF):c.156C>T (p.Gly52=)
|
|
|
|
NM_022725.4(FANCF):c.160A>G (p.Ile54Val)
|
rs2133798534
|
|
|
NM_022725.4(FANCF):c.164G>A (p.Arg55His)
|
|
|
|
NM_022725.4(FANCF):c.175G>C (p.Glu59Gln)
|
|
|
|
NM_022725.4(FANCF):c.183G>A (p.Arg61=)
|
|
|
|
NM_022725.4(FANCF):c.184C>T (p.Leu62=)
|
rs2133798493
|
|
|
NM_022725.4(FANCF):c.186G>T (p.Leu62=)
|
|
|
|
NM_022725.4(FANCF):c.191A>G (p.Asn64Ser)
|
rs756433846
|
|
|
NM_022725.4(FANCF):c.192C>A (p.Asn64Lys)
|
rs1413335884
|
|
|
NM_022725.4(FANCF):c.192C>T (p.Asn64=)
|
|
|
|
NM_022725.4(FANCF):c.194A>C (p.Gln65Pro)
|
|
|
|
NM_022725.4(FANCF):c.203A>G (p.Gln68Arg)
|
|
|
|
NM_022725.4(FANCF):c.204A>G (p.Gln68=)
|
|
|
|
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser)
|
rs1590542146
|
|
|
NM_022725.4(FANCF):c.214T>G (p.Phe72Val)
|
|
|
|
NM_022725.4(FANCF):c.219del (p.Arg74fs)
|
rs1858634363
|
|
|
NM_022725.4(FANCF):c.221G>A (p.Arg74Gln)
|
rs1858634295
|
|
|
NM_022725.4(FANCF):c.223G>T (p.Gly75Cys)
|
rs958516903
|
|
|
NM_022725.4(FANCF):c.230_252del (p.Val77fs)
|
rs730880277
|
|
|
NM_022725.4(FANCF):c.231T>C (p.Val77=)
|
|
|
|
NM_022725.4(FANCF):c.236del (p.Gly79fs)
|
|
|
|
NM_022725.4(FANCF):c.244A>G (p.Asn82Asp)
|
|
|
|
NM_022725.4(FANCF):c.249C>T (p.Phe83=)
|
rs1858633603
|
|
|
NM_022725.4(FANCF):c.24G>A (p.Leu8=)
|
rs1035401874
|
|
|
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs)
|
rs2133798885
|
|
|
NM_022725.4(FANCF):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_022725.4(FANCF):c.258C>A (p.Leu86=)
|
rs146352365
|
|
|
NM_022725.4(FANCF):c.258C>T (p.Leu86=)
|
rs146352365
|
|
|
NM_022725.4(FANCF):c.260G>T (p.Gly87Val)
|
|
|
|
NM_022725.4(FANCF):c.267T>C (p.Cys89=)
|
|
|
|
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
|
|
|
|
NM_022725.4(FANCF):c.269A>G (p.Asp90Gly)
|
rs746415789
|
|
|
NM_022725.4(FANCF):c.276G>C (p.Leu92=)
|
rs757554175
|
|
|
NM_022725.4(FANCF):c.281C>G (p.Ser94Cys)
|
|
|
|
NM_022725.4(FANCF):c.291G>A (p.Leu97=)
|
|
|
|
NM_022725.4(FANCF):c.291G>C (p.Leu97=)
|
rs1418187939
|
|
|
NM_022725.4(FANCF):c.292C>T (p.Leu98=)
|
|
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
|
NM_022725.4(FANCF):c.301C>G (p.Arg101Gly)
|
rs760571335
|
|
|
NM_022725.4(FANCF):c.306C>T (p.Ala102=)
|
|
|
|
NM_022725.4(FANCF):c.309C>T (p.Leu103=)
|
|
|
|
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro)
|
rs1565055434
|
|
|
NM_022725.4(FANCF):c.322C>T (p.Arg108Cys)
|
rs200995539
|
|
|
NM_022725.4(FANCF):c.325T>C (p.Tyr109His)
|
rs2133798077
|
|
|
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter)
|
rs2133798073
|
|
|
NM_022725.4(FANCF):c.345C>A (p.Leu115=)
|
rs749884571
|
|
|
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser)
|
rs372625322
|
|
|
NM_022725.4(FANCF):c.351C>T (p.Pro117=)
|
|
|
|
NM_022725.4(FANCF):c.351_397del (p.Gly120fs)
|
rs730880278
|
|
|
NM_022725.4(FANCF):c.352G>A (p.Gly118Ser)
|
|
|
|
NM_022725.4(FANCF):c.352G>T (p.Gly118Cys)
|
rs1060501871
|
|
|
NM_022725.4(FANCF):c.364C>T (p.Arg122Trp)
|
|
|
|
NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)
|
|
|
|
NM_022725.4(FANCF):c.36C>G (p.Ser12=)
|
rs1353229536
|
|
|
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser)
|
rs201357673
|
|
|
NM_022725.4(FANCF):c.378G>A (p.Glu126=)
|
rs1318651729
|
|
|
NM_022725.4(FANCF):c.385C>A (p.Leu129Ile)
|
|
|
|
NM_022725.4(FANCF):c.388C>A (p.Gln130Lys)
|
|
|
|
NM_022725.4(FANCF):c.388C>G (p.Gln130Glu)
|
|
|
|
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
|
|
|
|
NM_022725.4(FANCF):c.391G>A (p.Glu131Lys)
|
|
|
|
NM_022725.4(FANCF):c.3G>A (p.Met1Ile)
|
rs2133798927
|
|
|
NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg)
|
|
|
|
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)
|
rs565372884
|
|
|
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln)
|
rs868692458
|
|
|
NM_022725.4(FANCF):c.420G>A (p.Arg140=)
|
|
|
|
NM_022725.4(FANCF):c.429G>A (p.Val143=)
|
|
|
|
NM_022725.4(FANCF):c.433A>G (p.Met145Val)
|
rs766160698
|
|
|
NM_022725.4(FANCF):c.434T>G (p.Met145Arg)
|
|
|
|
NM_022725.4(FANCF):c.445A>G (p.Asn149Asp)
|
|
|
|
NM_022725.4(FANCF):c.447T>C (p.Asn149=)
|
|
|
|
NM_022725.4(FANCF):c.448G>C (p.Gly150Arg)
|
|
|
|
NM_022725.4(FANCF):c.449G>A (p.Gly150Asp)
|
|
|
|
NM_022725.4(FANCF):c.451T>A (p.Tyr151Asn)
|
rs984455929
|
|
|
NM_022725.4(FANCF):c.457G>A (p.Glu153Lys)
|
rs748768759
|
|
|
NM_022725.4(FANCF):c.462C>A (p.Asn154Lys)
|
|
|
|
NM_022725.4(FANCF):c.462C>T (p.Asn154=)
|
rs2133797693
|
|
|
NM_022725.4(FANCF):c.471C>A (p.Leu157=)
|
rs201136733
|
|
|
NM_022725.4(FANCF):c.473A>G (p.Gln158Arg)
|
|
|
|
NM_022725.4(FANCF):c.477G>A (p.Glu159=)
|
|
|
|
NM_022725.4(FANCF):c.482C>G (p.Ser161Cys)
|
|
|
|
NM_022725.4(FANCF):c.484C>G (p.Leu162Val)
|
rs2133797641
|
|
|
NM_022725.4(FANCF):c.484_485del (p.Leu162fs)
|
rs587778340
|
|
|
NM_022725.4(FANCF):c.489G>C (p.Met163Ile)
|
rs1590541541
|
|
|
NM_022725.4(FANCF):c.494C>T (p.Thr165Ile)
|
|
|
|
NM_022725.4(FANCF):c.49G>A (p.Val17Ile)
|
|
|
|
NM_022725.4(FANCF):c.49G>T (p.Val17Phe)
|
rs758897077
|
|
|
NM_022725.4(FANCF):c.501G>A (p.Ala167=)
|
|
|
|
NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)
|
|
|
|
NM_022725.4(FANCF):c.506T>A (p.Leu169Gln)
|
|
|
|
NM_022725.4(FANCF):c.507G>A (p.Leu169=)
|
|
|
|
NM_022725.4(FANCF):c.50T>C (p.Val17Ala)
|
|
|
|
NM_022725.4(FANCF):c.51C>T (p.Val17=)
|
rs2133798809
|
|
|
NM_022725.4(FANCF):c.533G>A (p.Gly178Glu)
|
|
|
|
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
|
|
|
|
NM_022725.4(FANCF):c.537G>C (p.Lys179Asn)
|
|
|
|
NM_022725.4(FANCF):c.538del (p.Ala180fs)
|
|
|
|
NM_022725.4(FANCF):c.544G>A (p.Ala182Thr)
|
rs1858626528
|
|
|
NM_022725.4(FANCF):c.547G>A (p.Glu183Lys)
|
rs774728053
|
|
|
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln)
|
rs774728053
|
|
|
NM_022725.4(FANCF):c.54A>G (p.Ser18=)
|
|
|
|
NM_022725.4(FANCF):c.551G>C (p.Arg184Pro)
|
|
|
|
NM_022725.4(FANCF):c.552_554inv (p.Pro185Asp)
|
|
|
|
NM_022725.4(FANCF):c.553C>T (p.Pro185Ser)
|
|
|
|
NM_022725.4(FANCF):c.555C>T (p.Pro185=)
|
rs1156693900
|
|
|
NM_022725.4(FANCF):c.583C>T (p.Arg195Cys)
|
rs1231820160
|
|
|
NM_022725.4(FANCF):c.600C>T (p.Asn200=)
|
rs143713546
|
|
|
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)
|
rs1479457172
|
|
|
NM_022725.4(FANCF):c.606G>T (p.Leu202=)
|
|
|
|
NM_022725.4(FANCF):c.614T>C (p.Ile205Thr)
|
rs764300983
|
|
|
NM_022725.4(FANCF):c.615A>T (p.Ile205=)
|
rs1858624791
|
|
|
NM_022725.4(FANCF):c.618G>C (p.Ala206=)
|
rs1056134185
|
|
|
NM_022725.4(FANCF):c.623C>A (p.Ala208Glu)
|
|
|
|
NM_022725.4(FANCF):c.623C>T (p.Ala208Val)
|
|
|
|
NM_022725.4(FANCF):c.626T>C (p.Leu209Pro)
|
rs1554963662
|
|
|
NM_022725.4(FANCF):c.628T>C (p.Leu210=)
|
|
|
|
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser)
|
rs765672591
|
|
|
NM_022725.4(FANCF):c.633G>A (p.Gln211=)
|
|
|
|
NM_022725.4(FANCF):c.635C>A (p.Pro212Gln)
|
rs1590541259
|
|
|
NM_022725.4(FANCF):c.636G>T (p.Pro212=)
|
rs2133797243
|
|
|
NM_022725.4(FANCF):c.63del (p.Tyr22fs)
|
|
|
|
NM_022725.4(FANCF):c.645T>A (p.Ser215=)
|
rs2133797216
|
|
|
NM_022725.4(FANCF):c.654C>T (p.Pro218=)
|
|
|
|
NM_022725.4(FANCF):c.656A>G (p.Gln219Arg)
|
rs1230568893
|
|
|
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
|
|
|
|
NM_022725.4(FANCF):c.65A>G (p.Tyr22Cys)
|
rs1590542501
|
|
|
NM_022725.4(FANCF):c.664T>C (p.Leu222=)
|
|
|
|
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)
|
|
|
|
NM_022725.4(FANCF):c.668A>C (p.Glu223Ala)
|
|
|
|
NM_022725.4(FANCF):c.670C>A (p.Pro224Thr)
|
rs767765820
|
|
|
NM_022725.4(FANCF):c.683A>C (p.Lys228Thr)
|
|
|
|
NM_022725.4(FANCF):c.683A>G (p.Lys228Arg)
|
rs766802308
|
|
|
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser)
|
rs773724648
|
|
|
NM_022725.4(FANCF):c.689C>G (p.Pro230Arg)
|
rs762305649
|
|
|
NM_022725.4(FANCF):c.692G>A (p.Gly231Glu)
|
rs1858622610
|
|
|
NM_022725.4(FANCF):c.696G>T (p.Glu232Asp)
|
rs1590541131
|
|
|
NM_022725.4(FANCF):c.69C>T (p.Val23=)
|
rs987030810
|
|
|
NM_022725.4(FANCF):c.70A>G (p.Ser24Gly)
|
rs1858638724
|
|
|
NM_022725.4(FANCF):c.724C>T (p.Leu242=)
|
|
|
|
NM_022725.4(FANCF):c.750C>A (p.Ala250=)
|
|
|
|
NM_022725.4(FANCF):c.760G>A (p.Ala254Thr)
|
|
|
|
NM_022725.4(FANCF):c.762C>A (p.Ala254=)
|
rs1230699102
|
|
|
NM_022725.4(FANCF):c.763C>G (p.Leu255Val)
|
|
|
|
NM_022725.4(FANCF):c.765C>T (p.Leu255=)
|
|
|
|
NM_022725.4(FANCF):c.769G>A (p.Ala257Thr)
|
|
|
|
NM_022725.4(FANCF):c.771C>G (p.Ala257=)
|
|
|
|
NM_022725.4(FANCF):c.771C>T (p.Ala257=)
|
|
|
|
NM_022725.4(FANCF):c.78G>C (p.Trp26Cys)
|
rs764519472
|
|
|
NM_022725.4(FANCF):c.790A>T (p.Thr264Ser)
|
rs1663559839
|
|
|
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg)
|
rs758796858
|
|
|
NM_022725.4(FANCF):c.799C>T (p.His267Tyr)
|
|
|
|
NM_022725.4(FANCF):c.801C>A (p.His267Gln)
|
rs762356967
|
|
|
NM_022725.4(FANCF):c.80A>C (p.Asp27Ala)
|
|
|
|
NM_022725.4(FANCF):c.814C>T (p.Pro272Ser)
|
|
|
|
NM_022725.4(FANCF):c.817G>C (p.Val273Leu)
|
rs1858619819
|
|
|
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser)
|
rs144524228
|
|
|
NM_022725.4(FANCF):c.821A>G (p.Tyr274Cys)
|
rs144524228
|
|
|
NM_022725.4(FANCF):c.822T>C (p.Tyr274=)
|
|
|
|
NM_022725.4(FANCF):c.823C>T (p.Leu275=)
|
rs1858619649
|
|
|
NM_022725.4(FANCF):c.829C>G (p.Leu277Val)
|
|
|
|
NM_022725.4(FANCF):c.838G>A (p.Asp280Asn)
|
|
|
|
NM_022725.4(FANCF):c.838G>T (p.Asp280Tyr)
|
|
|
|
NM_022725.4(FANCF):c.841T>C (p.Trp281Arg)
|
|
|
|
NM_022725.4(FANCF):c.845G>A (p.Gly282Asp)
|
rs2133796678
|
|
|
NM_022725.4(FANCF):c.849A>G (p.Gln283=)
|
rs146848948
|
|
|
NM_022725.4(FANCF):c.84del (p.Ala29fs)
|
rs1275961745
|
|
|
NM_022725.4(FANCF):c.851G>C (p.Arg284Pro)
|
|
|
|
NM_022725.4(FANCF):c.857A>C (p.His286Pro)
|
|
|
|
NM_022725.4(FANCF):c.857A>G (p.His286Arg)
|
rs368940253
|
|
|
NM_022725.4(FANCF):c.85G>C (p.Ala29Pro)
|
|
|
|
NM_022725.4(FANCF):c.861T>C (p.Tyr287=)
|
rs1029853294
|
|
|
NM_022725.4(FANCF):c.864C>T (p.Asp288=)
|
|
|
|
NM_022725.4(FANCF):c.866T>C (p.Leu289Pro)
|
rs1177443868
|
|
|
NM_022725.4(FANCF):c.869A>C (p.Gln290Pro)
|
rs2133796621
|
|
|
NM_022725.4(FANCF):c.885T>G (p.Val295=)
|
rs761238804
|
|
|
NM_022725.4(FANCF):c.886G>T (p.Gly296Ter)
|
|
|
|
NM_022725.4(FANCF):c.889A>G (p.Thr297Ala)
|
rs1060501872
|
|
|
NM_022725.4(FANCF):c.88A>G (p.Thr30Ala)
|
|
|
|
NM_022725.4(FANCF):c.88dup (p.Thr30fs)
|
|
|
|
NM_022725.4(FANCF):c.891T>G (p.Thr297=)
|
rs1060504373
|
|
|
NM_022725.4(FANCF):c.899A>G (p.Gln300Arg)
|
rs915379462
|
|
|
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser)
|
rs370347668
|
|
|
NM_022725.4(FANCF):c.90C>A (p.Thr30=)
|
|
|
|
NM_022725.4(FANCF):c.90C>T (p.Thr30=)
|
rs544395896
|
|
|
NM_022725.4(FANCF):c.921G>T (p.Leu307Phe)
|
rs1205605542
|
|
|
NM_022725.4(FANCF):c.923A>G (p.His308Arg)
|
rs1590540697
|
|
|
NM_022725.4(FANCF):c.924C>A (p.His308Gln)
|
|
|
|
NM_022725.4(FANCF):c.924C>T (p.His308=)
|
|
|
|
NM_022725.4(FANCF):c.940C>T (p.Leu314Phe)
|
rs1858617232
|
|
|
NM_022725.4(FANCF):c.943dup (p.Cys315fs)
|
rs1590540654
|
|
|
NM_022725.4(FANCF):c.952C>G (p.Pro318Ala)
|
|
|
|
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)
|
rs746120363
|
|
|
NM_022725.4(FANCF):c.95G>A (p.Arg32His)
|
|
|
|
NM_022725.4(FANCF):c.96C>G (p.Arg32=)
|
rs151253274
|
|
|
NM_022725.4(FANCF):c.96_98dup (p.Arg33dup)
|
rs1554963731
|
|
|
NM_022725.4(FANCF):c.987G>C (p.Leu329=)
|
rs2133796354
|
|
|
NM_022725.4(FANCF):c.98G>A (p.Arg33Gln)
|
rs2133798673
|
|
|
NM_022725.4(FANCF):c.98G>C (p.Arg33Pro)
|
|
|
|
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)
|
rs1250903119
|
|
|
NM_022725.4(FANCF):c.993C>A (p.Thr331=)
|
|
|
|
NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)
|
|
|
|
NM_022725.4(FANCF):c.9C>A (p.Ser3=)
|
|
|
|
NM_022725.4(FANCF):c.9C>T (p.Ser3=)
|
rs1404225853
|
|
|
NM_032043.2(BRIP1):c.1474-7C>A
|
rs886041146
|
|
|
NM_032043.2(BRIP1):c.1780_1781inv (p.Leu594Lys)
|
|
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
|
NM_032043.2(BRIP1):c.2493-?_2575+?dup
|
|
|
|
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle)
|
rs1555572724
|
|
|
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs)
|
rs1555572516
|
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
|
NM_032043.2(BRIP1):c.919-?_1140+?del
|
|
|
|
NM_032043.3(BRIP1):c.-31+498_187del
|
|
|
|
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser)
|
rs535414791
|
|
|
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
|
NM_032043.3(BRIP1):c.1006G>A (p.Asp336Asn)
|
|
|
|
NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)
|
|
|
|
NM_032043.3(BRIP1):c.1008T>C (p.Asp336=)
|
rs876660706
|
|
|
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val)
|
rs1365389773
|
|
|
NM_032043.3(BRIP1):c.1009A>T (p.Ile337Leu)
|
|
|
|
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly)
|
rs2145852980
|
|
|
NM_032043.3(BRIP1):c.1010T>C (p.Ile337Thr)
|
rs2077990704
|
|
|
NM_032043.3(BRIP1):c.1011A>C (p.Ile337=)
|
rs2145338037
|
|
|
NM_032043.3(BRIP1):c.1012G>A (p.Glu338Lys)
|
rs777653224
|
|
|
NM_032043.3(BRIP1):c.1012G>C (p.Glu338Gln)
|
|
|
|
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=)
|
rs1490732516
|
|
|
NM_032043.3(BRIP1):c.1015G>A (p.Glu339Lys)
|
rs2145337853
|
|
|
NM_032043.3(BRIP1):c.1017A>G (p.Glu339=)
|
|
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
|
NM_032043.3(BRIP1):c.1019T>C (p.Leu340Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1021G>A (p.Val341Ile)
|
rs863224797
|
|
|
NM_032043.3(BRIP1):c.1022T>G (p.Val341Gly)
|
rs2145337483
|
|
|
NM_032043.3(BRIP1):c.1024A>C (p.Ser342Arg)
|
rs1603343284
|
|
|
NM_032043.3(BRIP1):c.1026C>T (p.Ser342=)
|
rs1603343281
|
|
|
NM_032043.3(BRIP1):c.1028T>C (p.Leu343Pro)
|
rs1414803437
|
|
|
NM_032043.3(BRIP1):c.102A>G (p.Arg34=)
|
|
|
|
NM_032043.3(BRIP1):c.1030G>A (p.Gly344Arg)
|
rs1555607734
|
|
|
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
|
|
|
|
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)
|
rs751841684
|
|
|
NM_032043.3(BRIP1):c.1032G>A (p.Gly344=)
|
rs1468683560
|
|
|
NM_032043.3(BRIP1):c.1032GAA[1] (p.Lys346del)
|
rs2145336622
|
|
|
NM_032043.3(BRIP1):c.1034A>C (p.Lys345Thr)
|
rs2077989830
|
|
|
NM_032043.3(BRIP1):c.1034A>G (p.Lys345Arg)
|
rs2077989830
|
|
|
NM_032043.3(BRIP1):c.1035G>A (p.Lys345=)
|
rs2145336644
|
|
|
NM_032043.3(BRIP1):c.1036A>G (p.Lys346Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1039C>T (p.Leu347=)
|
rs2145336515
|
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
|
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro)
|
rs786201819
|
|
|
NM_032043.3(BRIP1):c.1041A>G (p.Leu347=)
|
rs1555607724
|
|
|
NM_032043.3(BRIP1):c.1045G>A (p.Ala349Thr)
|
rs149364097
|
|
|
NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser)
|
rs149364097
|
|
|
NM_032043.3(BRIP1):c.1046C>T (p.Ala349Val)
|
rs1184306036
|
|
|
NM_032043.3(BRIP1):c.1047C>A (p.Ala349=)
|
rs763189201
|
|
|
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg)
|
rs876658173
|
|
|
NM_032043.3(BRIP1):c.1048T>G (p.Cys350Gly)
|
rs876658173
|
|
|
NM_032043.3(BRIP1):c.1049G>A (p.Cys350Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1050T>C (p.Cys350=)
|
rs1555607717
|
|
|
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs)
|
rs1603343235
|
|
|
NM_032043.3(BRIP1):c.1056T>C (p.Tyr352=)
|
|
|
|
NM_032043.3(BRIP1):c.1058A>C (p.Tyr353Ser)
|
rs2077989056
|
|
|
NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
|
NM_032043.3(BRIP1):c.105A>G (p.Gly35=)
|
rs2145852819
|
|
|
NM_032043.3(BRIP1):c.1060A>G (p.Thr354Ala)
|
rs2145335496
|
|
|
NM_032043.3(BRIP1):c.1065C>T (p.Ala355=)
|
rs1222801209
|
|
|
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly)
|
rs730881633
|
|
|
NM_032043.3(BRIP1):c.1067G>A (p.Arg356Gln)
|
rs1289648562
|
|
|
NM_032043.3(BRIP1):c.1069G>A (p.Glu357Lys)
|
rs769081927
|
|
|
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)
|
rs769081927
|
|
|
NM_032043.3(BRIP1):c.1072C>A (p.Leu358Ile)
|
rs775191379
|
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
|
NM_032043.3(BRIP1):c.1076T>C (p.Ile359Thr)
|
rs2145334735
|
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
|
NM_032043.3(BRIP1):c.107T>C (p.Leu36Ser)
|
rs1060501767
|
|
|
NM_032043.3(BRIP1):c.1080A>G (p.Gln360=)
|
|
|
|
NM_032043.3(BRIP1):c.1081G>A (p.Asp361Asn)
|
rs1060501737
|
|
|
NM_032043.3(BRIP1):c.1081G>T (p.Asp361Tyr)
|
rs1060501737
|
|
|
NM_032043.3(BRIP1):c.1086T>C (p.Ala362=)
|
|
|
|
NM_032043.3(BRIP1):c.108A>C (p.Leu36Phe)
|
rs774586397
|
|
|
NM_032043.3(BRIP1):c.108A>G (p.Leu36=)
|
rs774586397
|
|
|
NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val)
|
rs770306753
|
|
|
NM_032043.3(BRIP1):c.1091T>C (p.Ile364Thr)
|
rs2077987772
|
|
|
NM_032043.3(BRIP1):c.1092C>T (p.Ile364=)
|
rs1555607674
|
|
|
NM_032043.3(BRIP1):c.1093A>C (p.Ile365Leu)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1098T>G (p.Phe366Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg)
|
rs1567831592
|
|
|
NM_032043.3(BRIP1):c.1102C>T (p.Pro368Ser)
|
rs1555607669
|
|
|
NM_032043.3(BRIP1):c.1103C>T (p.Pro368Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1104C>T (p.Pro368=)
|
rs1555607667
|
|
|
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
|
|
|
|
NM_032043.3(BRIP1):c.1106A>C (p.Tyr369Ser)
|
rs786202218
|
|
|
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys)
|
rs786202218
|
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1107C>T (p.Tyr369=)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
|
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser)
|
rs876659105
|
|
|
NM_032043.3(BRIP1):c.1110C>T (p.Asn370=)
|
|
|
|
NM_032043.3(BRIP1):c.1112A>G (p.Tyr371Cys)
|
rs1060501768
|
|
|
NM_032043.3(BRIP1):c.1112A>T (p.Tyr371Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1113T>C (p.Tyr371=)
|
rs2145332634
|
|
|
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile)
|
rs786202637
|
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
|
NM_032043.3(BRIP1):c.1116T>A (p.Leu372=)
|
|
|
|
NM_032043.3(BRIP1):c.1116T>C (p.Leu372=)
|
rs2077986700
|
|
|
NM_032043.3(BRIP1):c.1119A>G (p.Leu373=)
|
|
|
|
NM_032043.3(BRIP1):c.1122T>A (p.Asp374Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1123G>A (p.Ala375Thr)
|
rs878855135
|
|
|
NM_032043.3(BRIP1):c.1124C>T (p.Ala375Val)
|
rs786202192
|
|
|
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.1128A>G (p.Gln376=)
|
|
|
|
NM_032043.3(BRIP1):c.1129A>G (p.Ile377Val)
|
rs876659688
|
|
|
NM_032043.3(BRIP1):c.112A>G (p.Ser38Gly)
|
rs2145852551
|
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
|
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met)
|
rs927733243
|
|
|
NM_032043.3(BRIP1):c.1131A>T (p.Ile377=)
|
rs927733243
|
|
|
NM_032043.3(BRIP1):c.1133G>A (p.Arg378Lys)
|
rs1555607637
|
|
|
NM_032043.3(BRIP1):c.1136A>G (p.Glu379Gly)
|
rs1555607635
|
|
|
NM_032043.3(BRIP1):c.1138A>G (p.Ser380Gly)
|
rs1555607633
|
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
|
NM_032043.3(BRIP1):c.1139G>A (p.Ser380Asn)
|
rs569696977
|
|
|
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile)
|
rs569696977
|
|
|
NM_032043.3(BRIP1):c.113G>A (p.Ser38Asn)
|
rs1555618429
|
|
|
NM_032043.3(BRIP1):c.1140+10T>C
|
rs1060504332
|
|
|
NM_032043.3(BRIP1):c.1140+10T>G
|
rs1060504332
|
|
|
NM_032043.3(BRIP1):c.1140+11G>T
|
|
|
|
NM_032043.3(BRIP1):c.1140+13G>A
|
|
|
|
NM_032043.3(BRIP1):c.1140+13G>C
|
|
|
|
NM_032043.3(BRIP1):c.1140+1G>A
|
rs1555607628
|
|
|
NM_032043.3(BRIP1):c.1140+3G>A
|
rs1322162359
|
|
|
NM_032043.3(BRIP1):c.1140+3G>T
|
rs1322162359
|
|
|
NM_032043.3(BRIP1):c.1140+4A>T
|
rs2077985597
|
|
|
NM_032043.3(BRIP1):c.1140+7A>G
|
rs1299846526
|
|
|
NM_032043.3(BRIP1):c.1140+7AT[3]
|
|
|
|
NM_032043.3(BRIP1):c.1140+9A>G
|
rs2145330850
|
|
|
NM_032043.3(BRIP1):c.1141-12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-14C>A
|
rs2077954619
|
|
|
NM_032043.3(BRIP1):c.1141-14C>T
|
|
|
|
NM_032043.3(BRIP1):c.1141-15T>C
|
rs2145311075
|
|
|
NM_032043.3(BRIP1):c.1141-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-2A>T
|
rs769583916
|
|
|
NM_032043.3(BRIP1):c.1141-3T>C
|
rs773264592
|
|
|
NM_032043.3(BRIP1):c.1141-4A>T
|
rs1226658018
|
|
|
NM_032043.3(BRIP1):c.1141-5T>A
|
rs1060501760
|
|
|
NM_032043.3(BRIP1):c.1141-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.1141-6T>C
|
rs876661277
|
|
|
NM_032043.3(BRIP1):c.1141-7C>G
|
rs1603342384
|
|
|
NM_032043.3(BRIP1):c.1141-7_1141-3del
|
rs1060501744
|
|
|
NM_032043.3(BRIP1):c.1141-8T>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-9A>G
|
rs1555607258
|
|
|
NM_032043.3(BRIP1):c.1142T>A (p.Met381Lys)
|
rs1060501741
|
|
|
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr)
|
rs1060501741
|
|
|
NM_032043.3(BRIP1):c.1144G>A (p.Asp382Asn)
|
rs1452168198
|
|
|
NM_032043.3(BRIP1):c.1144G>T (p.Asp382Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1147T>G (p.Leu383Val)
|
rs1603342360
|
|
|
NM_032043.3(BRIP1):c.114C>A (p.Ser38Arg)
|
rs2078951392
|
|
|
NM_032043.3(BRIP1):c.114C>T (p.Ser38=)
|
rs2078951392
|
|
|
NM_032043.3(BRIP1):c.1150A>T (p.Asn384Tyr)
|
rs1603342354
|
|
|
NM_032043.3(BRIP1):c.1151A>G (p.Asn384Ser)
|
rs1060501750
|
|
|
NM_032043.3(BRIP1):c.1153C>T (p.Leu385=)
|
|
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
|
NM_032043.3(BRIP1):c.1156A>G (p.Lys386Glu)
|
rs730881635
|
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
|
NM_032043.3(BRIP1):c.1158A>G (p.Lys386=)
|
rs1567829719
|
|
|
NM_032043.3(BRIP1):c.1158del (p.Glu387fs)
|
rs2145309797
|
|
|
NM_032043.3(BRIP1):c.1159G>A (p.Glu387Lys)
|
rs1555607230
|
|
|
NM_032043.3(BRIP1):c.1161A>G (p.Glu387=)
|
rs2145309623
|
|
|
NM_032043.3(BRIP1):c.1161_1163del (p.Gln388del)
|
rs2145309517
|
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
|
NM_032043.3(BRIP1):c.1164G>A (p.Gln388=)
|
rs1603342334
|
|
|
NM_032043.3(BRIP1):c.1164G>T (p.Gln388His)
|
rs1603342334
|
|
|
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1165G>C (p.Val389Leu)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1165G>T (p.Val389Phe)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1166T>C (p.Val389Ala)
|
rs2145309289
|
|
|
NM_032043.3(BRIP1):c.1166T>G (p.Val389Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1167T>C (p.Val389=)
|
|
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
|
NM_032043.3(BRIP1):c.1168G>A (p.Val390Ile)
|
rs781168634
|
|
|
NM_032043.3(BRIP1):c.1168G>T (p.Val390Phe)
|
rs781168634
|
|
|
NM_032043.3(BRIP1):c.1170C>T (p.Val390=)
|
rs754755989
|
|
|
NM_032043.3(BRIP1):c.1173T>G (p.Ile391Met)
|
rs1427603031
|
|
|
NM_032043.3(BRIP1):c.1177G>C (p.Asp393His)
|
rs1555607200
|
|
|
NM_032043.3(BRIP1):c.1180G>C (p.Glu394Gln)
|
rs2077952602
|
|
|
NM_032043.3(BRIP1):c.1182A>G (p.Glu394=)
|
rs1555607195
|
|
|
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
|
|
|
|
NM_032043.3(BRIP1):c.1183G>A (p.Ala395Thr)
|
rs2077952484
|
|
|
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val)
|
rs778992385
|
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
|
NM_032043.3(BRIP1):c.1188T>C (p.His396=)
|
rs1555607189
|
|
|
NM_032043.3(BRIP1):c.1189A>C (p.Asn397His)
|
rs587782039
|
|
|
NM_032043.3(BRIP1):c.118C>G (p.Gln40Glu)
|
|
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1190A>T (p.Asn397Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs)
|
rs2145307730
|
|
|
NM_032043.3(BRIP1):c.1193T>G (p.Ile398Ser)
|
rs2145307952
|
|
|
NM_032043.3(BRIP1):c.1195G>C (p.Glu399Gln)
|
rs587782816
|
|
|
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs)
|
rs2077951770
|
|
|
NM_032043.3(BRIP1):c.1197G>C (p.Glu399Asp)
|
rs1567829526
|
|
|
NM_032043.3(BRIP1):c.119A>C (p.Gln40Pro)
|
rs2078951315
|
|
|
NM_032043.3(BRIP1):c.11T>C (p.Met4Thr)
|
rs2078973570
|
|
|
NM_032043.3(BRIP1):c.1200C>T (p.Asp400=)
|
rs1555607173
|
|
|
NM_032043.3(BRIP1):c.1201T>C (p.Cys401Arg)
|
rs756636362
|
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
|
NM_032043.3(BRIP1):c.1205C>T (p.Ala402Val)
|
rs876659282
|
|
|
NM_032043.3(BRIP1):c.1206T>C (p.Ala402=)
|
rs1203573533
|
|
|
NM_032043.3(BRIP1):c.1207C>A (p.Arg403=)
|
rs369631413
|
|
|
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly)
|
rs369631413
|
|
|
NM_032043.3(BRIP1):c.1209G>A (p.Arg403=)
|
rs2077951084
|
|
|
NM_032043.3(BRIP1):c.1212A>G (p.Glu404=)
|
rs2145306711
|
|
|
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly)
|
rs1555607156
|
|
|
NM_032043.3(BRIP1):c.121C>T (p.His41Tyr)
|
rs770930270
|
|
|
NM_032043.3(BRIP1):c.1221T>G (p.Ser407Arg)
|
rs2077950726
|
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
|
NM_032043.3(BRIP1):c.1224C>T (p.Tyr408=)
|
|
|
|
NM_032043.3(BRIP1):c.1225A>G (p.Ser409Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1226G>A (p.Ser409Asn)
|
rs587782247
|
|
|
NM_032043.3(BRIP1):c.1226G>C (p.Ser409Thr)
|
rs587782247
|
|
|
NM_032043.3(BRIP1):c.1227T>C (p.Ser409=)
|
rs1555607150
|
|
|
NM_032043.3(BRIP1):c.1228G>A (p.Val410Ile)
|
rs2145305888
|
|
|
NM_032043.3(BRIP1):c.1228G>C (p.Val410Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1230A>C (p.Val410=)
|
rs2145305804
|
|
|
NM_032043.3(BRIP1):c.1233A>G (p.Thr411=)
|
|
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
|
NM_032043.3(BRIP1):c.1236A>G (p.Glu412=)
|
|
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
|
NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu)
|
rs2145305445
|
|
|
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala)
|
rs45576134
|
|
|
NM_032043.3(BRIP1):c.1239T>C (p.Val413=)
|
|
|
|
NM_032043.3(BRIP1):c.123T>C (p.His41=)
|
|
|
|
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs)
|
rs2077949826
|
|
|
NM_032043.3(BRIP1):c.1242G>C (p.Gln414His)
|
rs1257200897
|
|
|
NM_032043.3(BRIP1):c.1247G>T (p.Arg416Leu)
|
|
|
|
NM_032043.3(BRIP1):c.124T>C (p.Cys42Arg)
|
rs1567877037
|
|
|
NM_032043.3(BRIP1):c.124T>G (p.Cys42Gly)
|
rs1567877037
|
|
|
NM_032043.3(BRIP1):c.1250T>A (p.Phe417Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu)
|
rs2077949494
|
|
|
NM_032043.3(BRIP1):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1252G>T (p.Ala418Ser)
|
rs1567829310
|
|
|
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly)
|
rs150624408
|
|
|
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer)
|
rs2077948208
|
|
|
NM_032043.3(BRIP1):c.1257G>T (p.Arg419=)
|
|
|
|
NM_032043.3(BRIP1):c.1258G>A (p.Asp420Asn)
|
rs2077949084
|
|
|
NM_032043.3(BRIP1):c.125G>T (p.Cys42Phe)
|
rs1555618423
|
|
|
NM_032043.3(BRIP1):c.1261G>A (p.Glu421Lys)
|
rs2077949016
|
|
|
NM_032043.3(BRIP1):c.1262A>T (p.Glu421Val)
|
rs2077948964
|
|
|
NM_032043.3(BRIP1):c.1263A>G (p.Glu421=)
|
rs864622423
|
|
|
NM_032043.3(BRIP1):c.1264C>T (p.Leu422=)
|
rs768633507
|
|
|
NM_032043.3(BRIP1):c.1266A>C (p.Leu422=)
|
rs1484320639
|
|
|
NM_032043.3(BRIP1):c.1266A>T (p.Leu422=)
|
rs1484320639
|
|
|
NM_032043.3(BRIP1):c.1267G>C (p.Asp423His)
|
|
|
|
NM_032043.3(BRIP1):c.1269T>C (p.Asp423=)
|
rs954885174
|
|
|
NM_032043.3(BRIP1):c.1270A>C (p.Ser424Arg)
|
rs1028779004
|
|
|
NM_032043.3(BRIP1):c.1270A>G (p.Ser424Gly)
|
rs1028779004
|
|
|
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs)
|
rs2145303552
|
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
|
NM_032043.3(BRIP1):c.1272T>C (p.Ser424=)
|
|
|
|
NM_032043.3(BRIP1):c.1273A>G (p.Met425Val)
|
rs1567829230
|
|
|
NM_032043.3(BRIP1):c.1274T>C (p.Met425Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1275G>A (p.Met425Ile)
|
rs1555607086
|
|
|
NM_032043.3(BRIP1):c.127T>C (p.Leu43=)
|
rs1603367726
|
|
|
NM_032043.3(BRIP1):c.1280A>G (p.Asn427Ser)
|
rs1466605276
|
|
|
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)
|
rs779237423
|
|
|
NM_032043.3(BRIP1):c.1285A>C (p.Asn429His)
|
|
|
|
NM_032043.3(BRIP1):c.1285A>G (p.Asn429Asp)
|
rs1555607082
|
|
|
NM_032043.3(BRIP1):c.1287T>C (p.Asn429=)
|
rs863224431
|
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
|
NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val)
|
rs1567829158
|
|
|
NM_032043.3(BRIP1):c.1288A>T (p.Ile430Leu)
|
rs1567829158
|
|
|
NM_032043.3(BRIP1):c.1289T>A (p.Ile430Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1289T>C (p.Ile430Thr)
|
rs1555607077
|
|
|
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.1291A>T (p.Arg431Trp)
|
|
|
|
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
|
|
|
|
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys)
|
rs1328630889
|
|
|
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
|
|
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
|
NM_032043.3(BRIP1):c.1296G>A (p.Lys432=)
|
rs757400610
|
|
|
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs)
|
rs2077947183
|
|
|
NM_032043.3(BRIP1):c.129G>T (p.Leu43Phe)
|
rs2145852056
|
|
|
NM_032043.3(BRIP1):c.12G>A (p.Met4Ile)
|
rs1386396228
|
|
|
NM_032043.3(BRIP1):c.1301A>C (p.Asp434Ala)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1301A>G (p.Asp434Gly)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1301A>T (p.Asp434Val)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1302T>C (p.Asp434=)
|
|
|
|
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr)
|
rs1060501758
|
|
|
NM_032043.3(BRIP1):c.1305T>C (p.His435=)
|
rs1352266926
|
|
|
NM_032043.3(BRIP1):c.1305T>G (p.His435Gln)
|
rs1352266926
|
|
|
NM_032043.3(BRIP1):c.1307A>T (p.Glu436Val)
|
|
|
|
NM_032043.3(BRIP1):c.1308A>G (p.Glu436=)
|
rs2145301245
|
|
|
NM_032043.3(BRIP1):c.1309C>G (p.Pro437Ala)
|
rs878855137
|
|
|
NM_032043.3(BRIP1):c.130T>C (p.Leu44=)
|
rs758270108
|
|
|
NM_032043.3(BRIP1):c.1311C>T (p.Pro437=)
|
rs1060504327
|
|
|
NM_032043.3(BRIP1):c.1313T>C (p.Leu438Pro)
|
rs1555607056
|
|
|
NM_032043.3(BRIP1):c.1315C>A (p.Arg439=)
|
rs587780226
|
|
|
NM_032043.3(BRIP1):c.1318G>T (p.Ala440Ser)
|
rs2145300568
|
|
|
NM_032043.3(BRIP1):c.1320T>C (p.Ala440=)
|
|
|
|
NM_032043.3(BRIP1):c.1322T>G (p.Val441Gly)
|
rs1458068665
|
|
|
NM_032043.3(BRIP1):c.1323G>A (p.Val441=)
|
|
|
|
NM_032043.3(BRIP1):c.1324T>C (p.Cys442Arg)
|
rs1603342146
|
|
|
NM_032043.3(BRIP1):c.1324T>G (p.Cys442Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1325G>C (p.Cys442Ser)
|
rs1555607040
|
|
|
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)
|
rs2145300052
|
|
|
NM_032043.3(BRIP1):c.1327T>C (p.Cys443Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr)
|
rs1555607035
|
|
|
NM_032043.3(BRIP1):c.1329T>C (p.Cys443=)
|
rs2145299845
|
|
|
NM_032043.3(BRIP1):c.1330A>G (p.Ser444Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr)
|
rs1603342140
|
|
|
NM_032043.3(BRIP1):c.1332C>A (p.Ser444Arg)
|
rs200581792
|
|
|
NM_032043.3(BRIP1):c.1332C>G (p.Ser444Arg)
|
rs200581792
|
|
|
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu)
|
rs786203496
|
|
|
NM_032043.3(BRIP1):c.1336A>G (p.Ile446Val)
|
rs786203496
|
|
|
NM_032043.3(BRIP1):c.1337T>C (p.Ile446Thr)
|
rs1555607024
|
|
|
NM_032043.3(BRIP1):c.1339A>C (p.Asn447His)
|
rs2077945752
|
|
|
NM_032043.3(BRIP1):c.133G>A (p.Glu45Lys)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.133G>C (p.Glu45Gln)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.1340+11T>C
|
|
|
|
NM_032043.3(BRIP1):c.1340+13G>A
|
rs762531109
|
|
|
NM_032043.3(BRIP1):c.1340+13G>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+14T>C
|
rs1057522789
|
|
|
NM_032043.3(BRIP1):c.1340+17A>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+18T>A
|
|
|
|
NM_032043.3(BRIP1):c.1340+19T>C
|
rs2077944993
|
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
|
NM_032043.3(BRIP1):c.1340+20A>G
|
rs2145298307
|
|
|
NM_032043.3(BRIP1):c.1340+2_1340+5del
|
rs2077945546
|
|
|
NM_032043.3(BRIP1):c.1340+3A>C
|
rs1060501770
|
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
|
|
NM_032043.3(BRIP1):c.1340+6A>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+7_1340+9del
|
rs1413352933
|
|
|
NM_032043.3(BRIP1):c.1340+8G>T
|
rs2145298781
|
|
|
NM_032043.3(BRIP1):c.1340+9A>G
|
rs376487588
|
|
|
NM_032043.3(BRIP1):c.1340+9A>T
|
rs376487588
|
|
|
NM_032043.3(BRIP1):c.1340A>C (p.Asn447Thr)
|
rs1603342134
|
|
|
NM_032043.3(BRIP1):c.1341-16T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-17G>T
|
rs2145245872
|
|
|
NM_032043.3(BRIP1):c.1341-17_1341-13del
|
rs2077857551
|
|
|
NM_032043.3(BRIP1):c.1341-18del
|
|
|
|
NM_032043.3(BRIP1):c.1341-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-20del
|
rs2145245949
|
|
|
NM_032043.3(BRIP1):c.1341-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
|
NM_032043.3(BRIP1):c.1341-5T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-6T>G
|
|
|
|
NM_032043.3(BRIP1):c.1341-7A>G
|
rs2145245603
|
|
|
NM_032043.3(BRIP1):c.1341-8_1341-4del
|
rs1555605965
|
|
|
NM_032043.3(BRIP1):c.1341-8del
|
rs1567825391
|
|
|
NM_032043.3(BRIP1):c.1343G>T (p.Trp448Leu)
|
rs775171520
|
|
|
NM_032043.3(BRIP1):c.1347A>G (p.Leu449=)
|
|
|
|
NM_032043.3(BRIP1):c.1348G>A (p.Glu450Lys)
|
rs2077857156
|
|
|
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)
|
rs771861055
|
|
|
NM_032043.3(BRIP1):c.1354A>G (p.Asn452Asp)
|
rs2077857017
|
|
|
NM_032043.3(BRIP1):c.1356C>G (p.Asn452Lys)
|
rs730881640
|
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
|
NM_032043.3(BRIP1):c.1359T>C (p.Ala453=)
|
rs2145244570
|
|
|
NM_032043.3(BRIP1):c.1360G>A (p.Glu454Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1361A>C (p.Glu454Ala)
|
rs769918040
|
|
|
NM_032043.3(BRIP1):c.1362A>C (p.Glu454Asp)
|
rs786202553
|
|
|
NM_032043.3(BRIP1):c.1362A>G (p.Glu454=)
|
rs786202553
|
|
|
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His)
|
rs587780826
|
|
|
NM_032043.3(BRIP1):c.1364A>G (p.Tyr455Cys)
|
rs2077856391
|
|
|
NM_032043.3(BRIP1):c.1366C>A (p.Leu456Ile)
|
rs1379791142
|
|
|
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
|
|
|
|
NM_032043.3(BRIP1):c.1367T>A (p.Leu456His)
|
rs1555605947
|
|
|
NM_032043.3(BRIP1):c.1368T>C (p.Leu456=)
|
rs878855138
|
|
|
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile)
|
rs748221377
|
|
|
NM_032043.3(BRIP1):c.1369G>T (p.Val457Leu)
|
rs748221377
|
|
|
NM_032043.3(BRIP1):c.1370T>G (p.Val457Gly)
|
rs1369274888
|
|
|
NM_032043.3(BRIP1):c.1371A>G (p.Val457=)
|
rs935612010
|
|
|
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly)
|
rs1555605942
|
|
|
NM_032043.3(BRIP1):c.1374A>C (p.Glu458Asp)
|
rs2145243668
|
|
|
NM_032043.3(BRIP1):c.1377A>G (p.Arg459=)
|
rs780310294
|
|
|
NM_032043.3(BRIP1):c.1377A>T (p.Arg459Ser)
|
rs780310294
|
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
|
NM_032043.3(BRIP1):c.137G>A (p.Ser46Asn)
|
rs1567877002
|
|
|
NM_032043.3(BRIP1):c.1380T>C (p.Asp460=)
|
rs758735370
|
|
|
NM_032043.3(BRIP1):c.1382A>G (p.Tyr461Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=)
|
rs587780875
|
|
|
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)
|
rs587780875
|
|
|
NM_032043.3(BRIP1):c.1384G>C (p.Glu462Gln)
|
rs1603340353
|
|
|
NM_032043.3(BRIP1):c.1387T>C (p.Ser463Pro)
|
rs1555605920
|
|
|
NM_032043.3(BRIP1):c.1393T>A (p.Cys465Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1399A>T (p.Ile467Leu)
|
|
|
|
NM_032043.3(BRIP1):c.139C>A (p.Pro47Thr)
|
rs28903098
|
|
|
NM_032043.3(BRIP1):c.13T>G (p.Trp5Gly)
|
rs2078973498
|
|
|
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met)
|
rs764979728
|
|
|
NM_032043.3(BRIP1):c.1402T>C (p.Trp468Arg)
|
rs1369814158
|
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
|
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1405A>T (p.Ser469Cys)
|
rs2077854841
|
|
|
NM_032043.3(BRIP1):c.1406G>A (p.Ser469Asn)
|
|
|
|
NM_032043.3(BRIP1):c.1408G>A (p.Gly470Arg)
|
rs1603340339
|
|
|
NM_032043.3(BRIP1):c.1410A>C (p.Gly470=)
|
|
|
|
NM_032043.3(BRIP1):c.1410A>G (p.Gly470=)
|
|
|
|
NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser)
|
rs1555605906
|
|
|
NM_032043.3(BRIP1):c.1413T>C (p.Asn471=)
|
rs1555605904
|
|
|
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln)
|
rs1555605902
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
|
NM_032043.3(BRIP1):c.1417del (p.Met473fs)
|
rs2145241576
|
|
|
NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile)
|
|
|
|
NM_032043.3(BRIP1):c.141C>T (p.Pro47=)
|
|
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
|
NM_032043.3(BRIP1):c.1421T>A (p.Leu474His)
|
|
|
|
NM_032043.3(BRIP1):c.1422C>T (p.Leu474=)
|
rs1555605898
|
|
|
NM_032043.3(BRIP1):c.1423T>G (p.Leu475Val)
|
|
|
|
NM_032043.3(BRIP1):c.1425A>G (p.Leu475=)
|
rs2145241141
|
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
|
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
|
|
|
|
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser)
|
rs1567825164
|
|
|
NM_032043.3(BRIP1):c.1428T>C (p.Thr476=)
|
rs1603340327
|
|
|
NM_032043.3(BRIP1):c.1428T>G (p.Thr476=)
|
rs1603340327
|
|
|
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)
|
rs761452695
|
|
|
NM_032043.3(BRIP1):c.1433A>C (p.His478Pro)
|
rs45501097
|
|
|
NM_032043.3(BRIP1):c.1434C>A (p.His478Gln)
|
rs2077853857
|
|
|
NM_032043.3(BRIP1):c.1435A>G (p.Lys479Glu)
|
rs2077853790
|
|
|
NM_032043.3(BRIP1):c.1436A>G (p.Lys479Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1438A>G (p.Met480Val)
|
rs1422020047
|
|
|
NM_032043.3(BRIP1):c.143C>G (p.Thr48Arg)
|
rs755317452
|
|
|
NM_032043.3(BRIP1):c.143C>T (p.Thr48Ile)
|
rs755317452
|
|
|
NM_032043.3(BRIP1):c.1440G>A (p.Met480Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1440G>C (p.Met480Ile)
|
rs1555605887
|
|
|
NM_032043.3(BRIP1):c.1441G>A (p.Gly481Ser)
|
rs587780229
|
|
|
NM_032043.3(BRIP1):c.1442G>T (p.Gly481Val)
|
rs200062099
|
|
|
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs)
|
rs2077853451
|
|
|
NM_032043.3(BRIP1):c.1446C>G (p.Ile482Met)
|
rs759360709
|
|
|
NM_032043.3(BRIP1):c.1446C>T (p.Ile482=)
|
rs759360709
|
|
|
NM_032043.3(BRIP1):c.1448C>G (p.Thr483Ser)
|
rs1555605874
|
|
|
NM_032043.3(BRIP1):c.1449C>T (p.Thr483=)
|
rs2077853064
|
|
|
NM_032043.3(BRIP1):c.144A>G (p.Thr48=)
|
rs1423058475
|
|
|
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
|
|
|
|
NM_032043.3(BRIP1):c.1451C>T (p.Thr484Ile)
|
rs2145239872
|
|
|
NM_032043.3(BRIP1):c.1453G>A (p.Ala485Thr)
|
rs2077853006
|
|
|
NM_032043.3(BRIP1):c.1453_1455del (p.Ala485del)
|
rs2077852941
|
|
|
NM_032043.3(BRIP1):c.1454C>A (p.Ala485Asp)
|
|
|
|
NM_032043.3(BRIP1):c.1456A>G (p.Thr486Ala)
|
|
|
|
NM_032043.3(BRIP1):c.1457C>T (p.Thr486Ile)
|
rs1603340296
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
|
NM_032043.3(BRIP1):c.1462C>T (p.Pro488Ser)
|
rs1450320184
|
|
|
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs)
|
rs1603340281
|
|
|
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu)
|
rs1237035767
|
|
|
NM_032043.3(BRIP1):c.1464C>T (p.Pro488=)
|
rs1603340284
|
|
|
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val)
|
rs1555605855
|
|
|
NM_032043.3(BRIP1):c.1469T>C (p.Leu490Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1469T>G (p.Leu490Trp)
|
rs2077852333
|
|
|
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
|
|
|
|
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe)
|
rs1567824994
|
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1472A>G (p.Gln491Arg)
|
rs1555605852
|
|
|
NM_032043.3(BRIP1):c.1472A>T (p.Gln491Leu)
|
rs1555605852
|
|
|
NM_032043.3(BRIP1):c.1473+13_1473+14del
|
rs876660968
|
|
|
NM_032043.3(BRIP1):c.1473+14T>C
|
rs1555605845
|
|
|
NM_032043.3(BRIP1):c.1473+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+14del
|
rs876660968
|
|
|
NM_032043.3(BRIP1):c.1473+14dup
|
rs876660968
|
|
|
NM_032043.3(BRIP1):c.1473+15C>G
|
rs2077851707
|
|
|
NM_032043.3(BRIP1):c.1473+16T>C
|
rs1555605844
|
|
|
NM_032043.3(BRIP1):c.1473+1G>A
|
rs748274524
|
|
|
NM_032043.3(BRIP1):c.1473+1G>C
|
rs748274524
|
|
|
NM_032043.3(BRIP1):c.1473+1G>T
|
rs748274524
|
|
|
NM_032043.3(BRIP1):c.1473+3A>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+3A>T
|
rs2077852092
|
|
|
NM_032043.3(BRIP1):c.1473+4_1473+8del
|
rs730881650
|
|
|
NM_032043.3(BRIP1):c.1473+7T>C
|
|
|
|
NM_032043.3(BRIP1):c.1473+8A>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+8A>T
|
|
|
|
NM_032043.3(BRIP1):c.1473G>C (p.Gln491His)
|
|
|
|
NM_032043.3(BRIP1):c.1474-10T>C
|
rs1555603645
|
|
|
NM_032043.3(BRIP1):c.1474-11A>G
|
rs1230175864
|
|
|
NM_032043.3(BRIP1):c.1474-12A>G
|
|
|
|
NM_032043.3(BRIP1):c.1474-12A>T
|
|
|
|
NM_032043.3(BRIP1):c.1474-14G>A
|
rs2077673537
|
|
|
NM_032043.3(BRIP1):c.1474-14G>T
|
|
|
|
NM_032043.3(BRIP1):c.1474-15G>A
|
|
|
|
NM_032043.3(BRIP1):c.1474-16T>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-17A>G
|
|
|
|
NM_032043.3(BRIP1):c.1474-17A>T
|
rs762049694
|
|
|
NM_032043.3(BRIP1):c.1474-19A>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
|
NM_032043.3(BRIP1):c.1474-20A>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-20A>T
|
rs1462969643
|
|
|
NM_032043.3(BRIP1):c.1474-2A>G
|
rs1603337052
|
|
|
NM_032043.3(BRIP1):c.1474-4A>G
|
rs2145142626
|
|
|
NM_032043.3(BRIP1):c.1474-5T>G
|
|
|
|
NM_032043.3(BRIP1):c.1474-7C>T
|
rs886041146
|
|
|
NM_032043.3(BRIP1):c.1474-9T>G
|
rs863224432
|
|
|
NM_032043.3(BRIP1):c.1474G>A (p.Gly492Arg)
|
rs2145142389
|
|
|
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1475G>T (p.Gly492Val)
|
rs2077672955
|
|
|
NM_032043.3(BRIP1):c.1477C>T (p.His493Tyr)
|
rs1555603628
|
|
|
NM_032043.3(BRIP1):c.1478A>T (p.His493Leu)
|
rs1555603626
|
|
|
NM_032043.3(BRIP1):c.1479T>C (p.His493=)
|
rs2077672800
|
|
|
NM_032043.3(BRIP1):c.147A>G (p.Gly49=)
|
rs2145851438
|
|
|
NM_032043.3(BRIP1):c.1480T>C (p.Phe494Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1483T>G (p.Ser495Ala)
|
rs1555603617
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
|
NM_032043.3(BRIP1):c.1484C>A (p.Ser495Tyr)
|
rs536081549
|
|
|
NM_032043.3(BRIP1):c.1485T>G (p.Ser495=)
|
rs370658123
|
|
|
NM_032043.3(BRIP1):c.1487C>T (p.Ala496Val)
|
rs1555603612
|
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
|
NM_032043.3(BRIP1):c.1489G>A (p.Val497Ile)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.148A>G (p.Ser50Gly)
|
rs2078950409
|
|
|
NM_032043.3(BRIP1):c.1492C>A (p.Leu498Ile)
|
rs1603337024
|
|
|
NM_032043.3(BRIP1):c.1493T>A (p.Leu498His)
|
rs1555603600
|
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
|
NM_032043.3(BRIP1):c.1496A>G (p.Gln499Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1497A>G (p.Gln499=)
|
rs1555603597
|
|
|
NM_032043.3(BRIP1):c.1498A>G (p.Lys500Glu)
|
rs2077672083
|
|
|
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)
|
rs1555618738
|
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
|
NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)
|
|
|
|
NM_032043.3(BRIP1):c.1503G>A (p.Glu501=)
|
|
|
|
NM_032043.3(BRIP1):c.1504G>A (p.Glu502Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1506A>G (p.Glu502=)
|
rs1057523215
|
|
|
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu)
|
rs1555603594
|
|
|
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn)
|
rs1443429619
|
|
|
NM_032043.3(BRIP1):c.1509A>G (p.Lys503=)
|
rs1443429619
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
|
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr)
|
rs755306832
|
|
|
NM_032043.3(BRIP1):c.1512C>A (p.Ile504=)
|
rs876660478
|
|
|
NM_032043.3(BRIP1):c.1512C>G (p.Ile504Met)
|
rs876660478
|
|
|
NM_032043.3(BRIP1):c.1513T>C (p.Ser505Pro)
|
rs1603337009
|
|
|
NM_032043.3(BRIP1):c.1514C>T (p.Ser505Leu)
|
rs945661395
|
|
|
NM_032043.3(BRIP1):c.1515A>G (p.Ser505=)
|
rs2145139643
|
|
|
NM_032043.3(BRIP1):c.1516C>A (p.Pro506Thr)
|
rs2077671245
|
|
|
NM_032043.3(BRIP1):c.1516C>T (p.Pro506Ser)
|
rs2077671245
|
|
|
NM_032043.3(BRIP1):c.1517C>A (p.Pro506Gln)
|
rs2077671171
|
|
|
NM_032043.3(BRIP1):c.1517C>T (p.Pro506Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1518A>G (p.Pro506=)
|
rs1603337002
|
|
|
NM_032043.3(BRIP1):c.1519A>G (p.Ile507Val)
|
rs1555603569
|
|
|
NM_032043.3(BRIP1):c.1522T>G (p.Tyr508Asp)
|
rs2077671034
|
|
|
NM_032043.3(BRIP1):c.1523A>G (p.Tyr508Cys)
|
rs1567817029
|
|
|
NM_032043.3(BRIP1):c.1524T>C (p.Tyr508=)
|
rs1060504326
|
|
|
NM_032043.3(BRIP1):c.1526G>A (p.Gly509Asp)
|
rs1555603567
|
|
|
NM_032043.3(BRIP1):c.1527T>C (p.Gly509=)
|
|
|
|
NM_032043.3(BRIP1):c.1528A>G (p.Lys510Glu)
|
rs1603336991
|
|
|
NM_032043.3(BRIP1):c.1529A>C (p.Lys510Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1533G>A (p.Glu511=)
|
rs1418736430
|
|
|
NM_032043.3(BRIP1):c.1534G>A (p.Glu512Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)
|
rs1603336980
|
|
|
NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1536G>A (p.Glu512=)
|
rs876658531
|
|
|
NM_032043.3(BRIP1):c.1537del (p.Ala513fs)
|
rs1567816997
|
|
|
NM_032043.3(BRIP1):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_032043.3(BRIP1):c.153A>G (p.Gly51=)
|
rs1603367703
|
|
|
NM_032043.3(BRIP1):c.1543G>A (p.Glu515Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
|
NM_032043.3(BRIP1):c.1545A>C (p.Glu515Asp)
|
rs1567816977
|
|
|
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)
|
rs1567816972
|
|
|
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu)
|
rs2077670264
|
|
|
NM_032043.3(BRIP1):c.1549C>T (p.Pro517Ser)
|
rs1603336970
|
|
|
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu)
|
rs786202169
|
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
|
NM_032043.3(BRIP1):c.1553T>A (p.Val518Asp)
|
rs1555603541
|
|
|
NM_032043.3(BRIP1):c.1555A>T (p.Ile519Phe)
|
rs2145137902
|
|
|
NM_032043.3(BRIP1):c.1556T>C (p.Ile519Thr)
|
rs1555603538
|
|
|
NM_032043.3(BRIP1):c.1558A>G (p.Ser520Gly)
|
rs2077669665
|
|
|
NM_032043.3(BRIP1):c.1559G>A (p.Ser520Asn)
|
rs757629526
|
|
|
NM_032043.3(BRIP1):c.1561G>A (p.Ala521Thr)
|
rs913184257
|
|
|
NM_032043.3(BRIP1):c.1562C>T (p.Ala521Val)
|
rs2077669449
|
|
|
NM_032043.3(BRIP1):c.1564T>C (p.Ser522Pro)
|
rs2077669404
|
|
|
NM_032043.3(BRIP1):c.1566A>G (p.Ser522=)
|
rs985465808
|
|
|
NM_032043.3(BRIP1):c.1567A>G (p.Thr523Ala)
|
rs1555603510
|
|
|
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile)
|
rs1060501764
|
|
|
NM_032043.3(BRIP1):c.1569T>C (p.Thr523=)
|
rs2145137253
|
|
|
NM_032043.3(BRIP1):c.156A>C (p.Lys52Asn)
|
rs1603367700
|
|
|
NM_032043.3(BRIP1):c.156A>G (p.Lys52=)
|
rs1603367700
|
|
|
NM_032043.3(BRIP1):c.1571A>C (p.Gln524Pro)
|
rs587781726
|
|
|
NM_032043.3(BRIP1):c.1571A>T (p.Gln524Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)
|
rs1064795196
|
|
|
NM_032043.3(BRIP1):c.1577T>A (p.Met526Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile)
|
rs2077668951
|
|
|
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg)
|
rs1603336934
|
|
|
NM_032043.3(BRIP1):c.1581T>G (p.Leu527=)
|
rs2145136829
|
|
|
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu)
|
rs748962730
|
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
|
|
|
|
NM_032043.3(BRIP1):c.1585G>C (p.Gly529Arg)
|
rs876659321
|
|
|
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe)
|
rs1326418771
|
|
|
NM_032043.3(BRIP1):c.1589T>C (p.Leu530Pro)
|
rs1603336923
|
|
|
NM_032043.3(BRIP1):c.158G>A (p.Ser53Asn)
|
rs751182362
|
|
|
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile)
|
rs786202417
|
|
|
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val)
|
rs4988350
|
|
|
NM_032043.3(BRIP1):c.1592T>C (p.Phe531Ser)
|
rs878855139
|
|
|
NM_032043.3(BRIP1):c.1594A>T (p.Met532Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1596G>A (p.Met532Ile)
|
rs2145136186
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
|
NM_032043.3(BRIP1):c.15G>C (p.Trp5Cys)
|
rs2078973424
|
|
|
NM_032043.3(BRIP1):c.1601T>C (p.Leu534Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1602T>C (p.Leu534=)
|
rs974139602
|
|
|
NM_032043.3(BRIP1):c.1603G>C (p.Asp535His)
|
|
|
|
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs)
|
rs2145135739
|
|
|
NM_032043.3(BRIP1):c.1605C>T (p.Asp535=)
|
rs56024614
|
|
|
NM_032043.3(BRIP1):c.1608T>C (p.Tyr536=)
|
rs1603336910
|
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
|
NM_032043.3(BRIP1):c.1609C>G (p.Leu537Val)
|
rs864622208
|
|
|
NM_032043.3(BRIP1):c.1610T>C (p.Leu537Pro)
|
rs1567816751
|
|
|
NM_032043.3(BRIP1):c.1612T>C (p.Phe538Leu)
|
rs1603336907
|
|
|
NM_032043.3(BRIP1):c.1614T>C (p.Phe538=)
|
rs2145135352
|
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
|
NM_032043.3(BRIP1):c.1615A>C (p.Arg539=)
|
rs1555603468
|
|
|
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys)
|
rs199616792
|
|
|
NM_032043.3(BRIP1):c.1617G>A (p.Arg539=)
|
rs2145135194
|
|
|
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.1620A>G (p.Gln540=)
|
rs2145135063
|
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
|
NM_032043.3(BRIP1):c.1623T>G (p.Asn541Lys)
|
rs786203897
|
|
|
NM_032043.3(BRIP1):c.1626_1628del (p.Ser542del)
|
rs1555603461
|
|
|
NM_032043.3(BRIP1):c.1628+12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1628+14A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+15C>T
|
rs751454994
|
|
|
NM_032043.3(BRIP1):c.1628+17A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1628+1G>C
|
rs1438975574
|
|
|
NM_032043.3(BRIP1):c.1628+4del
|
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
|
NM_032043.3(BRIP1):c.1628+6T>C
|
rs1567816699
|
|
|
NM_032043.3(BRIP1):c.1628+6T>G
|
rs1567816699
|
|
|
NM_032043.3(BRIP1):c.1628+7G>A
|
rs2077666975
|
|
|
NM_032043.3(BRIP1):c.1628+9A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+9A>T
|
rs2145134529
|
|
|
NM_032043.3(BRIP1):c.1629-13T>C
|
rs2145098509
|
|
|
NM_032043.3(BRIP1):c.1629-14T>G
|
rs1057523831
|
|
|
NM_032043.3(BRIP1):c.1629-17_1652del
|
|
|
|
NM_032043.3(BRIP1):c.1629-19G>T
|
|
|
|
NM_032043.3(BRIP1):c.1629-1G>A
|
rs1060501757
|
|
|
NM_032043.3(BRIP1):c.1629-1G>C
|
rs1060501757
|
|
|
NM_032043.3(BRIP1):c.1629-1G>T
|
rs1060501757
|
|
|
NM_032043.3(BRIP1):c.1629-3T>G
|
|
|
|
NM_032043.3(BRIP1):c.1629-4C>A
|
|
|
|
NM_032043.3(BRIP1):c.1629-4C>T
|
rs747704211
|
|
|
NM_032043.3(BRIP1):c.1629-6A>G
|
rs755767691
|
|
|
NM_032043.3(BRIP1):c.162A>G (p.Leu54=)
|
|
|
|
NM_032043.3(BRIP1):c.1637A>G (p.Asp546Gly)
|
rs2077612367
|
|
|
NM_032043.3(BRIP1):c.1639G>T (p.Asp547Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1640A>G (p.Asp547Gly)
|
rs2077612324
|
|
|
NM_032043.3(BRIP1):c.1643A>C (p.Tyr548Ser)
|
rs587782405
|
|
|
NM_032043.3(BRIP1):c.1643A>G (p.Tyr548Cys)
|
rs587782405
|
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
|
NM_032043.3(BRIP1):c.1647A>G (p.Lys549=)
|
|
|
|
NM_032043.3(BRIP1):c.164C>T (p.Ala55Val)
|
rs1603367684
|
|
|
NM_032043.3(BRIP1):c.1651G>C (p.Ala551Pro)
|
rs766302517
|
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
|
NM_032043.3(BRIP1):c.1653G>A (p.Ala551=)
|
rs750213758
|
|
|
NM_032043.3(BRIP1):c.1653G>T (p.Ala551=)
|
rs750213758
|
|
|
NM_032043.3(BRIP1):c.1654A>G (p.Ile552Val)
|
rs1603334819
|
|
|
NM_032043.3(BRIP1):c.1659A>C (p.Gln553His)
|
rs876660693
|
|
|
NM_032043.3(BRIP1):c.1659A>G (p.Gln553=)
|
rs876660693
|
|
|
NM_032043.3(BRIP1):c.165C>T (p.Ala55=)
|
rs1603367680
|
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
|
NM_032043.3(BRIP1):c.1661A>T (p.Gln554Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
|
NM_032043.3(BRIP1):c.1662G>A (p.Gln554=)
|
|
|
|
NM_032043.3(BRIP1):c.1662G>C (p.Gln554His)
|
rs1060501749
|
|
|
NM_032043.3(BRIP1):c.1663A>G (p.Thr555Ala)
|
rs2077611229
|
|
|
NM_032043.3(BRIP1):c.1666T>C (p.Tyr556His)
|
rs752797989
|
|
|
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)
|
rs2077611091
|
|
|
NM_032043.3(BRIP1):c.1668C>T (p.Tyr556=)
|
rs1416513467
|
|
|
NM_032043.3(BRIP1):c.1669T>C (p.Ser557Pro)
|
rs2145096206
|
|
|
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)
|
rs2145095898
|
|
|
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)
|
rs876658266
|
|
|
NM_032043.3(BRIP1):c.1677A>C (p.Thr559=)
|
|
|
|
NM_032043.3(BRIP1):c.1678A>C (p.Asn560His)
|
|
|
|
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile)
|
rs1555602592
|
|
|
NM_032043.3(BRIP1):c.1680T>C (p.Asn560=)
|
rs2145095721
|
|
|
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro)
|
rs1603334713
|
|
|
NM_032043.3(BRIP1):c.1683G>A (p.Gln561=)
|
|
|
|
NM_032043.3(BRIP1):c.1683G>C (p.Gln561His)
|
rs1209325148
|
|
|
NM_032043.3(BRIP1):c.1683G>T (p.Gln561His)
|
|
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
|
NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr)
|
rs2077610488
|
|
|
NM_032043.3(BRIP1):c.1686T>A (p.Ile562=)
|
|
|
|
NM_032043.3(BRIP1):c.1686T>C (p.Ile562=)
|
rs1374464175
|
|
|
NM_032043.3(BRIP1):c.1687G>A (p.Asp563Asn)
|
rs2145095363
|
|
|
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del)
|
rs780590493
|
|
|
NM_032043.3(BRIP1):c.1688A>T (p.Asp563Val)
|
rs577768294
|
|
|
NM_032043.3(BRIP1):c.1689T>C (p.Asp563=)
|
rs1603334654
|
|
|
NM_032043.3(BRIP1):c.168A>G (p.Leu56=)
|
rs2145850652
|
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
|
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr)
|
rs755635967
|
|
|
NM_032043.3(BRIP1):c.1692T>C (p.Ile564=)
|
rs786202979
|
|
|
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)
|
rs1603334619
|
|
|
NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu)
|
rs1603334619
|
|
|
NM_032043.3(BRIP1):c.1697A>C (p.Asp566Ala)
|
rs1603334596
|
|
|
NM_032043.3(BRIP1):c.1697A>T (p.Asp566Val)
|
rs1603334596
|
|
|
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.1698C>G (p.Asp566Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)
|
rs2145094630
|
|
|
NM_032043.3(BRIP1):c.1702A>T (p.Asn568Tyr)
|
rs2077609583
|
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
|
NM_032043.3(BRIP1):c.1705G>C (p.Gly569Arg)
|
rs1259933364
|
|
|
NM_032043.3(BRIP1):c.1705G>T (p.Gly569Trp)
|
rs1259933364
|
|
|
NM_032043.3(BRIP1):c.1706G>A (p.Gly569Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1706G>C (p.Gly569Ala)
|
rs373228183
|
|
|
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val)
|
rs373228183
|
|
|
NM_032043.3(BRIP1):c.1707G>A (p.Gly569=)
|
rs878855141
|
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
|
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del)
|
rs754566378
|
|
|
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)
|
rs2077609103
|
|
|
NM_032043.3(BRIP1):c.1709T>C (p.Leu570Ser)
|
rs2077609103
|
|
|
NM_032043.3(BRIP1):c.1710G>C (p.Leu570Phe)
|
rs370087045
|
|
|
NM_032043.3(BRIP1):c.1713G>A (p.Leu571=)
|
|
|
|
NM_032043.3(BRIP1):c.1713G>C (p.Leu571Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1714G>A (p.Val572Ile)
|
rs1567813643
|
|
|
NM_032043.3(BRIP1):c.1714G>C (p.Val572Leu)
|
rs1567813643
|
|
|
NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly)
|
rs1603334516
|
|
|
NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1721C>G (p.Pro574Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1725A>G (p.Lys575=)
|
rs1555602537
|
|
|
NM_032043.3(BRIP1):c.1727A>G (p.Asn576Ser)
|
rs587778132
|
|
|
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
|
|
|
|
NM_032043.3(BRIP1):c.1728T>C (p.Asn576=)
|
rs1555602531
|
|
|
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1730A>G (p.Lys577Arg)
|
rs1411869768
|
|
|
NM_032043.3(BRIP1):c.1731_1733del (p.Lys578del)
|
rs1355330975
|
|
|
NM_032043.3(BRIP1):c.1734A>G (p.Lys578=)
|
rs786202592
|
|
|
NM_032043.3(BRIP1):c.1735C>A (p.Arg579Ser)
|
rs28997571
|
|
|
NM_032043.3(BRIP1):c.1737T>G (p.Arg579=)
|
|
|
|
NM_032043.3(BRIP1):c.1738T>A (p.Ser580Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
|
NM_032043.3(BRIP1):c.1739C>T (p.Ser580Leu)
|
rs1356014648
|
|
|
NM_032043.3(BRIP1):c.173G>C (p.Cys58Ser)
|
rs749920386
|
|
|
NM_032043.3(BRIP1):c.1740A>G (p.Ser580=)
|
rs2145092732
|
|
|
NM_032043.3(BRIP1):c.1744C>A (p.Gln582Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1751C>A (p.Thr584Asn)
|
rs2145092153
|
|
|
NM_032043.3(BRIP1):c.1751C>G (p.Thr584Ser)
|
rs2145092153
|
|
|
NM_032043.3(BRIP1):c.1753G>A (p.Ala585Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1753G>C (p.Ala585Pro)
|
rs1603334364
|
|
|
NM_032043.3(BRIP1):c.1756G>C (p.Val586Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1758T>C (p.Val586=)
|
rs863224433
|
|
|
NM_032043.3(BRIP1):c.1759C>A (p.His587Asn)
|
rs876660519
|
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
|
NM_032043.3(BRIP1):c.1761T>C (p.His587=)
|
rs1603334313
|
|
|
NM_032043.3(BRIP1):c.1762G>A (p.Val588Met)
|
rs876660355
|
|
|
NM_032043.3(BRIP1):c.1766T>G (p.Leu589Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1767A>G (p.Leu589=)
|
rs1057523711
|
|
|
NM_032043.3(BRIP1):c.176C>G (p.Ser59Cys)
|
|
|
|
NM_032043.3(BRIP1):c.176C>T (p.Ser59Phe)
|
rs2078949491
|
|
|
NM_032043.3(BRIP1):c.1770C>A (p.Asn590Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1770C>G (p.Asn590Lys)
|
rs2077606990
|
|
|
NM_032043.3(BRIP1):c.1770C>T (p.Asn590=)
|
|
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
|
NM_032043.3(BRIP1):c.1773T>C (p.Phe591=)
|
rs1057523507
|
|
|
NM_032043.3(BRIP1):c.1774T>C (p.Trp592Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly)
|
rs587780231
|
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
|
NM_032043.3(BRIP1):c.1776G>T (p.Trp592Cys)
|
rs753023295
|
|
|
NM_032043.3(BRIP1):c.1779C>T (p.Cys593=)
|
|
|
|
NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val)
|
rs876658256
|
|
|
NM_032043.3(BRIP1):c.1781T>C (p.Leu594Ser)
|
rs587781559
|
|
|
NM_032043.3(BRIP1):c.1782A>T (p.Leu594Phe)
|
rs1567813260
|
|
|
NM_032043.3(BRIP1):c.1785T>C (p.Asn595=)
|
rs1603334224
|
|
|
NM_032043.3(BRIP1):c.1787C>T (p.Pro596Leu)
|
rs864622155
|
|
|
NM_032043.3(BRIP1):c.1788A>G (p.Pro596=)
|
rs1555602434
|
|
|
NM_032043.3(BRIP1):c.1789G>T (p.Ala597Ser)
|
rs2077606219
|
|
|
NM_032043.3(BRIP1):c.178G>A (p.Ala60Thr)
|
rs1555618394
|
|
|
NM_032043.3(BRIP1):c.178G>C (p.Ala60Pro)
|
rs1555618394
|
|
|
NM_032043.3(BRIP1):c.1790C>G (p.Ala597Gly)
|
rs751667661
|
|
|
NM_032043.3(BRIP1):c.1791T>C (p.Ala597=)
|
|
|
|
NM_032043.3(BRIP1):c.1791T>G (p.Ala597=)
|
rs1060504323
|
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
|
NM_032043.3(BRIP1):c.1794+10T>A
|
rs763543426
|
|
|
NM_032043.3(BRIP1):c.1794+10T>C
|
rs763543426
|
|
|
NM_032043.3(BRIP1):c.1794+11C>T
|
|
|
|
NM_032043.3(BRIP1):c.1794+12A>G
|
rs773521085
|
|
|
NM_032043.3(BRIP1):c.1794+13T>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+13T>G
|
rs2145089397
|
|
|
NM_032043.3(BRIP1):c.1794+14G>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+15T>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+19T>G
|
|
|
|
NM_032043.3(BRIP1):c.1794+2T>G
|
|
|
|
NM_032043.3(BRIP1):c.1794+2dup
|
rs2077605901
|
|
|
NM_032043.3(BRIP1):c.1794+6C>T
|
rs1429375125
|
|
|
NM_032043.3(BRIP1):c.1794+7T>G
|
rs2145089607
|
|
|
NM_032043.3(BRIP1):c.1794+8C>T
|
|
|
|
NM_032043.3(BRIP1):c.1795-12G>A
|
rs762289143
|
|
|
NM_032043.3(BRIP1):c.1795-12_1795-10del
|
rs1475317357
|
|
|
NM_032043.3(BRIP1):c.1795-15G>A
|
|
|
|
NM_032043.3(BRIP1):c.1795-16T>G
|
|
|
|
NM_032043.3(BRIP1):c.1795-17A>G
|
rs1567812766
|
|
|
NM_032043.3(BRIP1):c.1795-17A>T
|
|
|
|
NM_032043.3(BRIP1):c.1795-18_1795-6del
|
rs1603333451
|
|
|
NM_032043.3(BRIP1):c.1795-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-1G>A
|
rs1368457771
|
|
|
NM_032043.3(BRIP1):c.1795-1G>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-20C>A
|
rs750994596
|
|
|
NM_032043.3(BRIP1):c.1795-2del
|
|
|
|
NM_032043.3(BRIP1):c.1795-7C>A
|
|
|
|
NM_032043.3(BRIP1):c.1795-8T>A
|
rs1012425653
|
|
|
NM_032043.3(BRIP1):c.1795G>A (p.Ala599Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1795G>T (p.Ala599Ser)
|
rs2145081985
|
|
|
NM_032043.3(BRIP1):c.1796C>T (p.Ala599Val)
|
|
|
|
NM_032043.3(BRIP1):c.1797C>T (p.Ala599=)
|
rs771672834
|
|
|
NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.17C>T (p.Ser6Phe)
|
rs1603368484
|
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
|
NM_032043.3(BRIP1):c.1805A>G (p.Asp602Gly)
|
rs1555602221
|
|
|
NM_032043.3(BRIP1):c.1806T>C (p.Asp602=)
|
rs878855142
|
|
|
NM_032043.3(BRIP1):c.1808T>A (p.Ile603Asn)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1809T>C (p.Ile603=)
|
rs370393808
|
|
|
NM_032043.3(BRIP1):c.180T>A (p.Ala60=)
|
rs2078949295
|
|
|
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs)
|
rs2145850255
|
|
|
NM_032043.3(BRIP1):c.1814G>A (p.Gly605Asp)
|
rs2145081033
|
|
|
NM_032043.3(BRIP1):c.1816A>C (p.Lys606Gln)
|
rs1386348664
|
|
|
NM_032043.3(BRIP1):c.1819G>T (p.Val607Phe)
|
|
|
|
NM_032043.3(BRIP1):c.181T>G (p.Leu61Val)
|
|
|
|
NM_032043.3(BRIP1):c.1824G>A (p.Gln608=)
|
|
|
|
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His)
|
rs1567812636
|
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
|
NM_032043.3(BRIP1):c.1826C>G (p.Thr609Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1827C>G (p.Thr609=)
|
rs2145080349
|
|
|
NM_032043.3(BRIP1):c.1828A>G (p.Ile610Val)
|
|
|
|
NM_032043.3(BRIP1):c.1829T>C (p.Ile610Thr)
|
|
|
|
NM_032043.3(BRIP1):c.182T>C (p.Leu61Ser)
|
rs1567876917
|
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
|
NM_032043.3(BRIP1):c.1835T>C (p.Leu612Ser)
|
rs2077597358
|
|
|
NM_032043.3(BRIP1):c.1836G>A (p.Leu612=)
|
rs1464898721
|
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
|
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)
|
rs864622345
|
|
|
NM_032043.3(BRIP1):c.1839A>G (p.Thr613=)
|
rs1603333264
|
|
|
NM_032043.3(BRIP1):c.183A>G (p.Leu61=)
|
rs1555618384
|
|
|
NM_032043.3(BRIP1):c.1840T>A (p.Ser614Thr)
|
rs2145079541
|
|
|
NM_032043.3(BRIP1):c.1841C>T (p.Ser614Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1843G>A (p.Gly615Ser)
|
rs1555602203
|
|
|
NM_032043.3(BRIP1):c.1844G>A (p.Gly615Asp)
|
|
|
|
NM_032043.3(BRIP1):c.1844G>T (p.Gly615Val)
|
rs2077597056
|
|
|
NM_032043.3(BRIP1):c.1846A>G (p.Thr616Ala)
|
rs1397233707
|
|
|
NM_032043.3(BRIP1):c.1848A>G (p.Thr616=)
|
rs1603333238
|
|
|
NM_032043.3(BRIP1):c.184G>A (p.Ala62Thr)
|
rs786202861
|
|
|
NM_032043.3(BRIP1):c.184G>T (p.Ala62Ser)
|
rs786202861
|
|
|
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser)
|
rs1064794095
|
|
|
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
|
|
|
|
NM_032043.3(BRIP1):c.1851A>G (p.Leu617=)
|
|
|
|
NM_032043.3(BRIP1):c.1852T>A (p.Ser618Thr)
|
rs876660191
|
|
|
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro)
|
rs876660191
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
|
NM_032043.3(BRIP1):c.1855C>G (p.Pro619Ala)
|
rs2077596661
|
|
|
NM_032043.3(BRIP1):c.1855C>T (p.Pro619Ser)
|
rs2077596661
|
|
|
NM_032043.3(BRIP1):c.1857A>C (p.Pro619=)
|
rs1603333212
|
|
|
NM_032043.3(BRIP1):c.1858A>G (p.Met620Val)
|
rs876658346
|
|
|
NM_032043.3(BRIP1):c.1859T>A (p.Met620Lys)
|
rs1555602185
|
|
|
NM_032043.3(BRIP1):c.1859T>C (p.Met620Thr)
|
rs1555602185
|
|
|
NM_032043.3(BRIP1):c.185C>T (p.Ala62Val)
|
rs2078949086
|
|
|
NM_032043.3(BRIP1):c.1861A>G (p.Lys621Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1864T>C (p.Ser622Pro)
|
rs2077596367
|
|
|
NM_032043.3(BRIP1):c.1865C>T (p.Ser622Phe)
|
rs2077596312
|
|
|
NM_032043.3(BRIP1):c.1867T>A (p.Phe623Ile)
|
rs864622438
|
|
|
NM_032043.3(BRIP1):c.1867T>C (p.Phe623Leu)
|
rs864622438
|
|
|
NM_032043.3(BRIP1):c.1868T>G (p.Phe623Cys)
|
rs2145077916
|
|
|
NM_032043.3(BRIP1):c.186A>G (p.Ala62=)
|
rs764252214
|
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
|
NM_032043.3(BRIP1):c.1874C>T (p.Ser625Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1877A>T (p.Glu626Val)
|
rs2145077565
|
|
|
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp)
|
rs1567812484
|
|
|
NM_032043.3(BRIP1):c.1878A>G (p.Glu626=)
|
|
|
|
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp)
|
rs1567812484
|
|
|
NM_032043.3(BRIP1):c.1879C>T (p.Leu627Phe)
|
rs2077595930
|
|
|
NM_032043.3(BRIP1):c.187T>A (p.Trp63Arg)
|
rs1603367652
|
|
|
NM_032043.3(BRIP1):c.1880T>A (p.Leu627His)
|
rs1567812479
|
|
|
NM_032043.3(BRIP1):c.1880T>G (p.Leu627Arg)
|
rs1567812479
|
|
|
NM_032043.3(BRIP1):c.1882G>A (p.Gly628Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1883G>A (p.Gly628Asp)
|
rs1064794907
|
|
|
NM_032043.3(BRIP1):c.1883G>T (p.Gly628Val)
|
rs1064794907
|
|
|
NM_032043.3(BRIP1):c.1888A>G (p.Thr630Ala)
|
rs2077595608
|
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
|
NM_032043.3(BRIP1):c.1889C>A (p.Thr630Lys)
|
rs780407946
|
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
|
NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala)
|
rs1555602149
|
|
|
NM_032043.3(BRIP1):c.1894A>T (p.Thr632Ser)
|
rs1555602149
|
|
|
NM_032043.3(BRIP1):c.1895C>G (p.Thr632Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1896T>C (p.Thr632=)
|
rs2077595308
|
|
|
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)
|
rs765314472
|
|
|
NM_032043.3(BRIP1):c.1898T>A (p.Ile633Asn)
|
rs587780232
|
|
|
NM_032043.3(BRIP1):c.1898T>C (p.Ile633Thr)
|
rs587780232
|
|
|
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
|
NM_032043.3(BRIP1):c.1901A>G (p.Gln634Arg)
|
rs2145076105
|
|
|
NM_032043.3(BRIP1):c.1902G>C (p.Gln634His)
|
rs1060501748
|
|
|
NM_032043.3(BRIP1):c.1903C>T (p.Leu635=)
|
rs754280136
|
|
|
NM_032043.3(BRIP1):c.1904T>C (p.Leu635Pro)
|
rs2145075890
|
|
|
NM_032043.3(BRIP1):c.1906G>A (p.Glu636Lys)
|
rs1060501769
|
|
|
NM_032043.3(BRIP1):c.1908G>A (p.Glu636=)
|
rs1555602134
|
|
|
NM_032043.3(BRIP1):c.1909G>C (p.Ala637Pro)
|
rs541203428
|
|
|
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)
|
rs2145849937
|
|
|
NM_032043.3(BRIP1):c.1911T>C (p.Ala637=)
|
rs1603333046
|
|
|
NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp)
|
rs2077594670
|
|
|
NM_032043.3(BRIP1):c.1914T>C (p.Asn638=)
|
rs764456240
|
|
|
NM_032043.3(BRIP1):c.1915C>A (p.His639Asn)
|
rs2145075261
|
|
|
NM_032043.3(BRIP1):c.1916A>G (p.His639Arg)
|
rs1603333030
|
|
|
NM_032043.3(BRIP1):c.1917T>C (p.His639=)
|
rs763534423
|
|
|
NM_032043.3(BRIP1):c.1918A>G (p.Ile640Val)
|
rs2145075101
|
|
|
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs)
|
rs1555602127
|
|
|
NM_032043.3(BRIP1):c.1920C>A (p.Ile640=)
|
rs2145074950
|
|
|
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe)
|
rs1603333007
|
|
|
NM_032043.3(BRIP1):c.1926A>G (p.Lys642=)
|
rs2145074724
|
|
|
NM_032043.3(BRIP1):c.1927A>C (p.Asn643His)
|
rs2145074666
|
|
|
NM_032043.3(BRIP1):c.192A>G (p.Gln64=)
|
rs2145849875
|
|
|
NM_032043.3(BRIP1):c.1930T>A (p.Ser644Thr)
|
rs2077594282
|
|
|
NM_032043.3(BRIP1):c.1933C>G (p.Gln645Glu)
|
rs2145074343
|
|
|
NM_032043.3(BRIP1):c.1935+11G>T
|
rs79121306
|
|
|
NM_032043.3(BRIP1):c.1935+11_1935+12del
|
|
|
|
NM_032043.3(BRIP1):c.1935+11del
|
|
|
|
NM_032043.3(BRIP1):c.1935+13T>G
|
rs1555602100
|
|
|
NM_032043.3(BRIP1):c.1935+14T>C
|
|
|
|
NM_032043.3(BRIP1):c.1935+16T>C
|
rs2145073369
|
|
|
NM_032043.3(BRIP1):c.1935+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.1935+17T>G
|
rs1268001607
|
|
|
NM_032043.3(BRIP1):c.1935+1G>A
|
|
|
|
NM_032043.3(BRIP1):c.1935+1del
|
rs2077594062
|
|
|
NM_032043.3(BRIP1):c.1935+4_1935+7del
|
rs766199221
|
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
|
NM_032043.3(BRIP1):c.1935+6T>C
|
rs1555602118
|
|
|
NM_032043.3(BRIP1):c.1935+7T>A
|
|
|
|
NM_032043.3(BRIP1):c.1935+8G>C
|
|
|
|
NM_032043.3(BRIP1):c.1935G>A (p.Gln645=)
|
rs1254051324
|
|
|
NM_032043.3(BRIP1):c.1936-12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-12T>G
|
|
|
|
NM_032043.3(BRIP1):c.1936-12_1936-10del
|
rs2145034941
|
|
|
NM_032043.3(BRIP1):c.1936-13A>T
|
|
|
|
NM_032043.3(BRIP1):c.1936-18G>A
|
rs2145035153
|
|
|
NM_032043.3(BRIP1):c.1936-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
|
NM_032043.3(BRIP1):c.1936-1G>C
|
rs1555601204
|
|
|
NM_032043.3(BRIP1):c.1936-28_1936-20dup
|
rs2145035178
|
|
|
NM_032043.3(BRIP1):c.1936-2A>G
|
rs878855143
|
|
|
NM_032043.3(BRIP1):c.1936-4C>G
|
rs587780552
|
|
|
NM_032043.3(BRIP1):c.1936-5T>A
|
rs769767296
|
|
|
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT
|
rs587781481
|
|
|
NM_032043.3(BRIP1):c.1936-7A>G
|
rs1427111542
|
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
|
NM_032043.3(BRIP1):c.1939T>G (p.Trp647Gly)
|
|
|
|
NM_032043.3(BRIP1):c.193C>A (p.Gln65Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1943T>G (p.Val648Gly)
|
rs2077537998
|
|
|
NM_032043.3(BRIP1):c.1946G>A (p.Gly649Asp)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs)
|
rs2077537479
|
|
|
NM_032043.3(BRIP1):c.1949C>T (p.Thr650Ile)
|
rs2077537888
|
|
|
NM_032043.3(BRIP1):c.194A>C (p.Gln65Pro)
|
rs1555618377
|
|
|
NM_032043.3(BRIP1):c.194_199del (p.Gln65_Ser66del)
|
rs2078948660
|
|
|
NM_032043.3(BRIP1):c.1950C>T (p.Thr650=)
|
rs1603328999
|
|
|
NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val)
|
rs778867622
|
|
|
NM_032043.3(BRIP1):c.1953T>C (p.Ile651=)
|
rs754400631
|
|
|
NM_032043.3(BRIP1):c.1956G>A (p.Gly652=)
|
rs778250103
|
|
|
NM_032043.3(BRIP1):c.1956G>T (p.Gly652=)
|
rs778250103
|
|
|
NM_032043.3(BRIP1):c.1958C>T (p.Ser653Leu)
|
rs756511744
|
|
|
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs)
|
rs2145033356
|
|
|
NM_032043.3(BRIP1):c.195A>C (p.Gln65His)
|
rs141436143
|
|
|
NM_032043.3(BRIP1):c.1960G>A (p.Gly654Ser)
|
rs1567809053
|
|
|
NM_032043.3(BRIP1):c.1962C>G (p.Gly654=)
|
rs786201877
|
|
|
NM_032043.3(BRIP1):c.1962C>T (p.Gly654=)
|
rs786201877
|
|
|
NM_032043.3(BRIP1):c.1963C>T (p.Pro655Ser)
|
rs753036322
|
|
|
NM_032043.3(BRIP1):c.1964C>G (p.Pro655Arg)
|
rs767872111
|
|
|
NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1967A>G (p.Lys656Arg)
|
rs1322017079
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
|
NM_032043.3(BRIP1):c.1968G>A (p.Lys656=)
|
|
|
|
NM_032043.3(BRIP1):c.1968G>T (p.Lys656Asn)
|
rs1064793415
|
|
|
NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1969G>T (p.Gly657Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1970G>A (p.Gly657Asp)
|
rs1603328878
|
|
|
NM_032043.3(BRIP1):c.1970G>T (p.Gly657Val)
|
rs1603328878
|
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
|
NM_032043.3(BRIP1):c.1971T>G (p.Gly657=)
|
rs1555601157
|
|
|
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=)
|
rs786203170
|
|
|
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly)
|
rs786203170
|
|
|
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln)
|
rs759142191
|
|
|
NM_032043.3(BRIP1):c.1974G>T (p.Arg658=)
|
rs876658617
|
|
|
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs)
|
rs2145032405
|
|
|
NM_032043.3(BRIP1):c.1976A>G (p.Asn659Ser)
|
rs1213142447
|
|
|
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe)
|
rs1060501746
|
|
|
NM_032043.3(BRIP1):c.197C>T (p.Ser66Phe)
|
rs2078948703
|
|
|
NM_032043.3(BRIP1):c.1982G>A (p.Cys661Tyr)
|
rs1160736353
|
|
|
NM_032043.3(BRIP1):c.1982G>T (p.Cys661Phe)
|
rs1160736353
|
|
|
NM_032043.3(BRIP1):c.1983T>C (p.Cys661=)
|
rs1603328829
|
|
|
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala)
|
rs1567808933
|
|
|
NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1989C>G (p.Thr663=)
|
rs376628979
|
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
|
NM_032043.3(BRIP1):c.1994A>T (p.Gln665Leu)
|
rs2145031487
|
|
|
NM_032043.3(BRIP1):c.1996A>C (p.Asn666His)
|
rs765816425
|
|
|
NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp)
|
rs765816425
|
|
|
NM_032043.3(BRIP1):c.1998T>C (p.Asn666=)
|
rs876659106
|
|
|
NM_032043.3(BRIP1):c.199C>G (p.Leu67Val)
|
|
|
|
NM_032043.3(BRIP1):c.199C>T (p.Leu67Phe)
|
|
|
|
NM_032043.3(BRIP1):c.19G>A (p.Glu7Lys)
|
rs1246321339
|
|
|
NM_032043.3(BRIP1):c.1A>T (p.Met1Leu)
|
rs764585550
|
|
|
NM_032043.3(BRIP1):c.1_2del (p.Met1fs)
|
rs876661246
|
|
|
NM_032043.3(BRIP1):c.2001T>G (p.Thr667=)
|
|
|
|
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)
|
rs2145031089
|
|
|
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser)
|
rs1555601107
|
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
|
NM_032043.3(BRIP1):c.2010T>C (p.Phe670=)
|
rs762535496
|
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
|
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly)
|
rs587778135
|
|
|
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs)
|
rs2145030551
|
|
|
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg)
|
rs786203619
|
|
|
NM_032043.3(BRIP1):c.2019A>G (p.Gln673=)
|
rs1008150951
|
|
|
NM_032043.3(BRIP1):c.201T>C (p.Leu67=)
|
rs763819127
|
|
|
NM_032043.3(BRIP1):c.2020G>A (p.Asp674Asn)
|
rs1567808842
|
|
|
NM_032043.3(BRIP1):c.2021A>G (p.Asp674Gly)
|
rs1555601087
|
|
|
NM_032043.3(BRIP1):c.2022T>G (p.Asp674Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
|
NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala)
|
rs1555601081
|
|
|
NM_032043.3(BRIP1):c.2026G>A (p.Val676Met)
|
rs2077535030
|
|
|
NM_032043.3(BRIP1):c.2028G>A (p.Val676=)
|
rs786202395
|
|
|
NM_032043.3(BRIP1):c.2028G>C (p.Val676=)
|
rs786202395
|
|
|
NM_032043.3(BRIP1):c.2029G>A (p.Gly677Arg)
|
rs1555601069
|
|
|
NM_032043.3(BRIP1):c.2029_2049del (p.Gly677_Val683del)
|
rs2077534052
|
|
|
NM_032043.3(BRIP1):c.202A>G (p.Ser68Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2030G>A (p.Gly677Glu)
|
rs1567808797
|
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
|
NM_032043.3(BRIP1):c.2032G>A (p.Ala678Thr)
|
rs2077534711
|
|
|
NM_032043.3(BRIP1):c.2033C>T (p.Ala678Val)
|
rs1211313166
|
|
|
NM_032043.3(BRIP1):c.2035C>T (p.Leu679Phe)
|
rs1555601056
|
|
|
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.2039T>C (p.Leu680Ser)
|
rs2077534379
|
|
|
NM_032043.3(BRIP1):c.2040G>A (p.Leu680=)
|
rs2145028811
|
|
|
NM_032043.3(BRIP1):c.2044T>C (p.Ser682Pro)
|
rs2077534218
|
|
|
NM_032043.3(BRIP1):c.2046T>C (p.Ser682=)
|
rs2145028480
|
|
|
NM_032043.3(BRIP1):c.2049G>A (p.Val683=)
|
rs1228288888
|
|
|
NM_032043.3(BRIP1):c.204T>C (p.Ser68=)
|
rs2078948550
|
|
|
NM_032043.3(BRIP1):c.205+10del
|
rs2078948200
|
|
|
NM_032043.3(BRIP1):c.205+13T>G
|
|
|
|
NM_032043.3(BRIP1):c.205+17T>G
|
|
|
|
NM_032043.3(BRIP1):c.205+18A>G
|
rs1555618353
|
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
|
NM_032043.3(BRIP1):c.205+20C>A
|
|
|
|
NM_032043.3(BRIP1):c.205+2T>G
|
rs1060501763
|
|
|
NM_032043.3(BRIP1):c.205+4A>G
|
rs1060501753
|
|
|
NM_032043.3(BRIP1):c.205+4A>T
|
|
|
|
NM_032043.3(BRIP1):c.205+5G>A
|
rs2078948368
|
|
|
NM_032043.3(BRIP1):c.205+5G>T
|
rs2078948368
|
|
|
NM_032043.3(BRIP1):c.205+6T>A
|
rs1555618360
|
|
|
NM_032043.3(BRIP1):c.205+6T>C
|
rs1555618360
|
|
|
NM_032043.3(BRIP1):c.205+6_205+7insTATCTTGA
|
rs2078948236
|
|
|
NM_032043.3(BRIP1):c.205+8G>A
|
rs2145849179
|
|
|
NM_032043.3(BRIP1):c.2050T>G (p.Cys684Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2051G>T (p.Cys684Phe)
|
rs2145028133
|
|
|
NM_032043.3(BRIP1):c.2053del (p.Gln685fs)
|
rs2145028011
|
|
|
NM_032043.3(BRIP1):c.2054A>T (p.Gln685Leu)
|
rs2077533936
|
|
|
NM_032043.3(BRIP1):c.2055G>C (p.Gln685His)
|
rs1603328545
|
|
|
NM_032043.3(BRIP1):c.2055_2066del (p.Thr686_Gln689del)
|
rs2145027145
|
|
|
NM_032043.3(BRIP1):c.2058T>A (p.Thr686=)
|
|
|
|
NM_032043.3(BRIP1):c.2058T>C (p.Thr686=)
|
rs1603328526
|
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
|
NM_032043.3(BRIP1):c.2059G>A (p.Val687Met)
|
rs876659296
|
|
|
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer)
|
rs2145027657
|
|
|
NM_032043.3(BRIP1):c.205G>T (p.Gly69Trp)
|
rs372581879
|
|
|
NM_032043.3(BRIP1):c.206-10T>A
|
|
|
|
NM_032043.3(BRIP1):c.206-14T>A
|
rs914741353
|
|
|
NM_032043.3(BRIP1):c.206-14T>C
|
rs914741353
|
|
|
NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC
|
|
|
|
NM_032043.3(BRIP1):c.206-16G>A
|
|
|
|
NM_032043.3(BRIP1):c.206-17T>C
|
rs1567875100
|
|
|
NM_032043.3(BRIP1):c.206-18A>T
|
|
|
|
NM_032043.3(BRIP1):c.206-1G>T
|
rs1555617934
|
|
|
NM_032043.3(BRIP1):c.206-6T>A
|
rs1555617938
|
|
|
NM_032043.3(BRIP1):c.206-8A>C
|
|
|
|
NM_032043.3(BRIP1):c.206-8A>G
|
rs2145831898
|
|
|
NM_032043.3(BRIP1):c.206-9C>A
|
rs1193647766
|
|
|
NM_032043.3(BRIP1):c.206-9C>T
|
|
|
|
NM_032043.3(BRIP1):c.2060T>C (p.Val687Ala)
|
rs1555601030
|
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
|
NM_032043.3(BRIP1):c.2063G>A (p.Ser688Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2066A>G (p.Gln689Arg)
|
rs2145027105
|
|
|
NM_032043.3(BRIP1):c.2068G>A (p.Gly690Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2069G>C (p.Gly690Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2071A>G (p.Ile691Val)
|
rs587782356
|
|
|
NM_032043.3(BRIP1):c.2073T>G (p.Ile691Met)
|
|
|
|
NM_032043.3(BRIP1):c.2079T>C (p.Cys693=)
|
rs2145026472
|
|
|
NM_032043.3(BRIP1):c.207G>A (p.Gly69=)
|
rs2078911284
|
|
|
NM_032043.3(BRIP1):c.2085G>A (p.Leu695=)
|
rs1555601008
|
|
|
NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe)
|
rs1555601008
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
|
NM_032043.3(BRIP1):c.2088A>G (p.Pro696=)
|
|
|
|
NM_032043.3(BRIP1):c.2089T>C (p.Ser697Pro)
|
rs1603328426
|
|
|
NM_032043.3(BRIP1):c.208A>C (p.Lys70Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2091T>C (p.Ser697=)
|
rs2077532892
|
|
|
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)
|
rs1603328406
|
|
|
NM_032043.3(BRIP1):c.2094C>T (p.Tyr698=)
|
rs1603328406
|
|
|
NM_032043.3(BRIP1):c.2097+10T>C
|
rs2145024802
|
|
|
NM_032043.3(BRIP1):c.2097+13T>A
|
|
|
|
NM_032043.3(BRIP1):c.2097+14T>C
|
rs2145024654
|
|
|
NM_032043.3(BRIP1):c.2097+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.2097+14del
|
|
|
|
NM_032043.3(BRIP1):c.2097+15A>T
|
|
|
|
NM_032043.3(BRIP1):c.2097+15_2097+17del
|
|
|
|
NM_032043.3(BRIP1):c.2097+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.2097+17T>G
|
rs779183944
|
|
|
NM_032043.3(BRIP1):c.2097+18G>T
|
rs2077532129
|
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
|
NM_032043.3(BRIP1):c.2097+1G>T
|
rs786202941
|
|
|
NM_032043.3(BRIP1):c.2097+2T>A
|
rs2077532634
|
|
|
NM_032043.3(BRIP1):c.2097+5G>T
|
|
|
|
NM_032043.3(BRIP1):c.2097+6G>A
|
rs1603328382
|
|
|
NM_032043.3(BRIP1):c.2097+7G>C
|
rs4988352
|
|
|
NM_032043.3(BRIP1):c.2097+7del
|
|
|
|
NM_032043.3(BRIP1):c.2097+8A>G
|
rs730881642
|
|
|
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=)
|
rs1060501754
|
|
|
NM_032043.3(BRIP1):c.2098-10C>A
|
rs864622767
|
|
|
NM_032043.3(BRIP1):c.2098-10C>T
|
rs864622767
|
|
|
NM_032043.3(BRIP1):c.2098-11C>A
|
|
|
|
NM_032043.3(BRIP1):c.2098-11C>T
|
|
|
|
NM_032043.3(BRIP1):c.2098-13T>G
|
rs2077035315
|
|
|
NM_032043.3(BRIP1):c.2098-14T>C
|
|
|
|
NM_032043.3(BRIP1):c.2098-16T>C
|
rs2144702212
|
|
|
NM_032043.3(BRIP1):c.2098-16del
|
rs1064793669
|
|
|
NM_032043.3(BRIP1):c.2098-17T>A
|
rs1555591574
|
|
|
NM_032043.3(BRIP1):c.2098-17T>C
|
rs1555591574
|
|
|
NM_032043.3(BRIP1):c.2098-22dup
|
rs1064793669
|
|
|
NM_032043.3(BRIP1):c.2098-3del
|
rs1603304671
|
|
|
NM_032043.3(BRIP1):c.2098-6C>T
|
rs2144701935
|
|
|
NM_032043.3(BRIP1):c.2098-8C>T
|
rs917048033
|
|
|
NM_032043.3(BRIP1):c.2098T>C (p.Leu700=)
|
rs2077034962
|
|
|
NM_032043.3(BRIP1):c.209A>C (p.Lys70Thr)
|
rs957072709
|
|
|
NM_032043.3(BRIP1):c.209A>G (p.Lys70Arg)
|
rs957072709
|
|
|
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser)
|
rs876658270
|
|
|
NM_032043.3(BRIP1):c.2103A>G (p.Leu701=)
|
|
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
|
NM_032043.3(BRIP1):c.2105A>G (p.Glu702Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2107A>G (p.Lys703Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2108A>G (p.Lys703Arg)
|
rs756412722
|
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
|
NM_032043.3(BRIP1):c.2109A>G (p.Lys703=)
|
rs2077034490
|
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
|
NM_032043.3(BRIP1):c.2110T>C (p.Leu704=)
|
|
|
|
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.2119C>A (p.Arg707Ser)
|
rs764803896
|
|
|
NM_032043.3(BRIP1):c.2119C>G (p.Arg707Gly)
|
rs764803896
|
|
|
NM_032043.3(BRIP1):c.211C>A (p.Pro71Thr)
|
|
|
|
NM_032043.3(BRIP1):c.211C>T (p.Pro71Ser)
|
rs876659680
|
|
|
NM_032043.3(BRIP1):c.2120G>A (p.Arg707His)
|
rs200313471
|
|
|
NM_032043.3(BRIP1):c.2120G>T (p.Arg707Leu)
|
rs200313471
|
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
|
NM_032043.3(BRIP1):c.2121T>A (p.Arg707=)
|
|
|
|
NM_032043.3(BRIP1):c.2121T>G (p.Arg707=)
|
rs1481107855
|
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2125C>G (p.Leu709Val)
|
rs2077033994
|
|
|
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro)
|
rs1567781600
|
|
|
NM_032043.3(BRIP1):c.2127C>G (p.Leu709=)
|
rs1060504325
|
|
|
NM_032043.3(BRIP1):c.2127C>T (p.Leu709=)
|
rs1060504325
|
|
|
NM_032043.3(BRIP1):c.2128T>G (p.Ser710Ala)
|
rs1555591505
|
|
|
NM_032043.3(BRIP1):c.2130T>C (p.Ser710=)
|
rs1555591497
|
|
|
NM_032043.3(BRIP1):c.2130T>G (p.Ser710=)
|
|
|
|
NM_032043.3(BRIP1):c.2131A>C (p.Thr711Pro)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
|
NM_032043.3(BRIP1):c.2135G>A (p.Gly712Asp)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2135G>C (p.Gly712Ala)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2135G>T (p.Gly712Val)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
|
NM_032043.3(BRIP1):c.213A>G (p.Pro71=)
|
rs1471650548
|
|
|
NM_032043.3(BRIP1):c.2140T>C (p.Trp714Arg)
|
rs1603304614
|
|
|
NM_032043.3(BRIP1):c.2143C>G (p.His715Asp)
|
rs2077033211
|
|
|
NM_032043.3(BRIP1):c.2144A>G (p.His715Arg)
|
rs1253181575
|
|
|
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp)
|
rs1060501745
|
|
|
NM_032043.3(BRIP1):c.2149C>T (p.Leu717=)
|
rs1555591473
|
|
|
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr)
|
rs1357919929
|
|
|
NM_032043.3(BRIP1):c.2150T>C (p.Leu717Pro)
|
rs2077032975
|
|
|
NM_032043.3(BRIP1):c.2151G>A (p.Leu717=)
|
rs2077032938
|
|
|
NM_032043.3(BRIP1):c.2154G>A (p.Glu718=)
|
rs1057523978
|
|
|
NM_032043.3(BRIP1):c.2154G>C (p.Glu718Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
|
|
|
|
NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)
|
|
|
|
NM_032043.3(BRIP1):c.2157G>T (p.Leu719Phe)
|
rs2144699040
|
|
|
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met)
|
rs1555591459
|
|
|
NM_032043.3(BRIP1):c.2158G>T (p.Val720Leu)
|
rs1555591459
|
|
|
NM_032043.3(BRIP1):c.2158_2160del (p.Val720del)
|
rs878855146
|
|
|
NM_032043.3(BRIP1):c.215C>A (p.Ala72Glu)
|
rs2078910927
|
|
|
NM_032043.3(BRIP1):c.2160G>A (p.Val720=)
|
rs1603304594
|
|
|
NM_032043.3(BRIP1):c.2163G>A (p.Lys721=)
|
|
|
|
NM_032043.3(BRIP1):c.2165C>T (p.Thr722Ile)
|
rs1603304593
|
|
|
NM_032043.3(BRIP1):c.2166A>G (p.Thr722=)
|
rs2144698611
|
|
|
NM_032043.3(BRIP1):c.2169C>T (p.Val723=)
|
rs749460936
|
|
|
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
|
|
|
|
NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu)
|
rs2077032430
|
|
|
NM_032043.3(BRIP1):c.2170A>G (p.Ile724Val)
|
|
|
|
NM_032043.3(BRIP1):c.2171T>C (p.Ile724Thr)
|
rs1312043643
|
|
|
NM_032043.3(BRIP1):c.2172T>G (p.Ile724Met)
|
rs777860588
|
|
|
NM_032043.3(BRIP1):c.2173G>A (p.Val725Ile)
|
rs1236873736
|
|
|
NM_032043.3(BRIP1):c.2174T>A (p.Val725Glu)
|
rs2144698131
|
|
|
NM_032043.3(BRIP1):c.2175A>G (p.Val725=)
|
|
|
|
NM_032043.3(BRIP1):c.2178A>C (p.Glu726Asp)
|
rs1555591425
|
|
|
NM_032043.3(BRIP1):c.2180C>A (p.Pro727Gln)
|
rs876659309
|
|
|
NM_032043.3(BRIP1):c.2180C>T (p.Pro727Leu)
|
rs876659309
|
|
|
NM_032043.3(BRIP1):c.2182C>G (p.Gln728Glu)
|
rs1296238058
|
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
|
NM_032043.3(BRIP1):c.2183A>T (p.Gln728Leu)
|
rs2144697784
|
|
|
NM_032043.3(BRIP1):c.2184G>A (p.Gln728=)
|
|
|
|
NM_032043.3(BRIP1):c.2184G>C (p.Gln728His)
|
rs2077031766
|
|
|
NM_032043.3(BRIP1):c.2185G>A (p.Gly729Arg)
|
rs1555591407
|
|
|
NM_032043.3(BRIP1):c.2186G>A (p.Gly729Glu)
|
rs1404094308
|
|
|
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
|
|
|
|
NM_032043.3(BRIP1):c.2191G>A (p.Glu731Lys)
|
rs1603304544
|
|
|
NM_032043.3(BRIP1):c.2194A>G (p.Lys732Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
|
NM_032043.3(BRIP1):c.2198C>T (p.Thr733Ile)
|
rs2077031435
|
|
|
NM_032043.3(BRIP1):c.219T>C (p.Asp73=)
|
rs1603366434
|
|
|
NM_032043.3(BRIP1):c.2200A>C (p.Asn734His)
|
rs2144697244
|
|
|
NM_032043.3(BRIP1):c.2201A>G (p.Asn734Ser)
|
rs2144697198
|
|
|
NM_032043.3(BRIP1):c.2205T>G (p.Phe735Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
|
NM_032043.3(BRIP1):c.2206G>A (p.Asp736Asn)
|
rs2144697004
|
|
|
NM_032043.3(BRIP1):c.2208T>G (p.Asp736Glu)
|
rs2077031257
|
|
|
NM_032043.3(BRIP1):c.220G>C (p.Glu74Gln)
|
rs2145831329
|
|
|
NM_032043.3(BRIP1):c.2211A>G (p.Glu737=)
|
rs1603304536
|
|
|
NM_032043.3(BRIP1):c.2212T>C (p.Leu738=)
|
rs1567781239
|
|
|
NM_032043.3(BRIP1):c.2214A>G (p.Leu738=)
|
|
|
|
NM_032043.3(BRIP1):c.2215C>T (p.Leu739=)
|
rs1555591374
|
|
|
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro)
|
rs587780234
|
|
|
NM_032043.3(BRIP1):c.2216T>G (p.Leu739Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2218C>G (p.Gln740Glu)
|
rs1555591361
|
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
|
NM_032043.3(BRIP1):c.2221G>A (p.Val741Met)
|
rs1308293137
|
|
|
NM_032043.3(BRIP1):c.2221G>C (p.Val741Leu)
|
rs1308293137
|
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
|
NM_032043.3(BRIP1):c.2222T>C (p.Val741Ala)
|
rs1555591357
|
|
|
NM_032043.3(BRIP1):c.2223G>T (p.Val741=)
|
rs1057522996
|
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
|
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser)
|
rs1555591351
|
|
|
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)
|
rs2144696024
|
|
|
NM_032043.3(BRIP1):c.2227T>G (p.Tyr743Asp)
|
rs2144695971
|
|
|
NM_032043.3(BRIP1):c.2228A>C (p.Tyr743Ser)
|
rs750033391
|
|
|
NM_032043.3(BRIP1):c.2228A>G (p.Tyr743Cys)
|
|
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
|
NM_032043.3(BRIP1):c.222G>A (p.Glu74=)
|
rs1603366432
|
|
|
NM_032043.3(BRIP1):c.222G>C (p.Glu74Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2230G>C (p.Asp744His)
|
rs2144695830
|
|
|
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu)
|
rs374362388
|
|
|
NM_032043.3(BRIP1):c.2234C>T (p.Ala745Val)
|
rs2144695654
|
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
|
NM_032043.3(BRIP1):c.2238C>A (p.Ile746=)
|
rs876660416
|
|
|
NM_032043.3(BRIP1):c.2238C>T (p.Ile746=)
|
rs876660416
|
|
|
NM_032043.3(BRIP1):c.223G>T (p.Gly75Cys)
|
rs1317680188
|
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
|
NM_032043.3(BRIP1):c.2247A>G (p.Lys749=)
|
rs587782556
|
|
|
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
|
|
|
|
NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2249G>A (p.Gly750Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val)
|
rs764061653
|
|
|
NM_032043.3(BRIP1):c.2250A>C (p.Gly750=)
|
rs1195197229
|
|
|
NM_032043.3(BRIP1):c.2251G>C (p.Glu751Gln)
|
rs760438320
|
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
|
NM_032043.3(BRIP1):c.2254A>C (p.Lys752Gln)
|
rs876659651
|
|
|
NM_032043.3(BRIP1):c.2255A>G (p.Lys752Arg)
|
rs876660016
|
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
|
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
|
|
|
|
NM_032043.3(BRIP1):c.2257+11A>G
|
rs1213506782
|
|
|
NM_032043.3(BRIP1):c.2257+11del
|
rs2144694434
|
|
|
NM_032043.3(BRIP1):c.2257+12_2257+17del
|
|
|
|
NM_032043.3(BRIP1):c.2257+13T>C
|
|
|
|
NM_032043.3(BRIP1):c.2257+15T>C
|
rs775380026
|
|
|
NM_032043.3(BRIP1):c.2257+19A>G
|
rs77851913
|
|
|
NM_032043.3(BRIP1):c.2257+19A>T
|
rs77851913
|
|
|
NM_032043.3(BRIP1):c.2257+1G>A
|
rs2077029293
|
|
|
NM_032043.3(BRIP1):c.2257+20T>C
|
|
|
|
NM_032043.3(BRIP1):c.2257+3A>G
|
rs2144694655
|
|
|
NM_032043.3(BRIP1):c.2257+7G>A
|
rs2144694497
|
|
|
NM_032043.3(BRIP1):c.2257+8G>T
|
rs2077029126
|
|
|
NM_032043.3(BRIP1):c.2257G>C (p.Asp753His)
|
rs1603304458
|
|
|
NM_032043.3(BRIP1):c.2258-12C>G
|
rs2144680873
|
|
|
NM_032043.3(BRIP1):c.2258-13T>C
|
rs1567779896
|
|
|
NM_032043.3(BRIP1):c.2258-13dup
|
rs2144680932
|
|
|
NM_032043.3(BRIP1):c.2258-19C>T
|
rs1057524575
|
|
|
NM_032043.3(BRIP1):c.2258-19del
|
rs2144681146
|
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
|
NM_032043.3(BRIP1):c.2258-1G>C
|
|
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
|
NM_032043.3(BRIP1):c.2258-20G>A
|
rs1555590610
|
|
|
NM_032043.3(BRIP1):c.2258-2dup
|
rs2144680473
|
|
|
NM_032043.3(BRIP1):c.2258-3A>C
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2258-5T>G
|
rs1555590588
|
|
|
NM_032043.3(BRIP1):c.2258-6T>C
|
rs2077009706
|
|
|
NM_032043.3(BRIP1):c.2258-7G>A
|
rs1060501777
|
|
|
NM_032043.3(BRIP1):c.2258-7_2258-4del
|
rs1064795010
|
|
|
NM_032043.3(BRIP1):c.2258-7_2258-5del
|
|
|
|
NM_032043.3(BRIP1):c.2258-9_2258-8dup
|
|
|
|
NM_032043.3(BRIP1):c.2259T>A (p.Asp753Glu)
|
rs2077009355
|
|
|
NM_032043.3(BRIP1):c.2262A>T (p.Gly754=)
|
rs1060504324
|
|
|
NM_032043.3(BRIP1):c.2263G>A (p.Ala755Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2264C>G (p.Ala755Gly)
|
rs1555590565
|
|
|
NM_032043.3(BRIP1):c.2264C>T (p.Ala755Val)
|
rs1555590565
|
|
|
NM_032043.3(BRIP1):c.2268C>T (p.Leu756=)
|
rs864622332
|
|
|
NM_032043.3(BRIP1):c.226G>T (p.Val76Leu)
|
rs769573395
|
|
|
NM_032043.3(BRIP1):c.2272G>A (p.Val758Ile)
|
rs1192826909
|
|
|
NM_032043.3(BRIP1):c.2272G>T (p.Val758Leu)
|
rs1192826909
|
|
|
NM_032043.3(BRIP1):c.2274A>G (p.Val758=)
|
rs786201526
|
|
|
NM_032043.3(BRIP1):c.2276C>G (p.Ala759Gly)
|
rs2144679532
|
|
|
NM_032043.3(BRIP1):c.2280T>C (p.Val760=)
|
|
|
|
NM_032043.3(BRIP1):c.2282G>A (p.Cys761Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser)
|
rs1567779745
|
|
|
NM_032043.3(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr)
|
rs1555590511
|
|
|
NM_032043.3(BRIP1):c.2285G>T (p.Arg762Leu)
|
rs200960251
|
|
|
NM_032043.3(BRIP1):c.228A>G (p.Val76=)
|
rs2078910583
|
|
|
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu)
|
rs1603303860
|
|
|
NM_032043.3(BRIP1):c.2292A>G (p.Lys764=)
|
rs2144678763
|
|
|
NM_032043.3(BRIP1):c.2296A>G (p.Ser766Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2297G>A (p.Ser766Asn)
|
rs2144678538
|
|
|
NM_032043.3(BRIP1):c.2298T>C (p.Ser766=)
|
rs1603303851
|
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
|
NM_032043.3(BRIP1):c.2302G>A (p.Gly768Ser)
|
rs2077008054
|
|
|
NM_032043.3(BRIP1):c.2303G>T (p.Gly768Val)
|
rs1603303846
|
|
|
NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)
|
|
|
|
NM_032043.3(BRIP1):c.2307G>A (p.Leu769=)
|
rs1555590464
|
|
|
NM_032043.3(BRIP1):c.2308G>A (p.Asp770Asn)
|
rs2077007860
|
|
|
NM_032043.3(BRIP1):c.2308G>T (p.Asp770Tyr)
|
rs2077007860
|
|
|
NM_032043.3(BRIP1):c.2309A>G (p.Asp770Gly)
|
rs1555590457
|
|
|
NM_032043.3(BRIP1):c.2311T>C (p.Phe771Leu)
|
rs2144677768
|
|
|
NM_032043.3(BRIP1):c.2313C>G (p.Phe771Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2313C>T (p.Phe771=)
|
|
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
|
NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2317G>A (p.Asp773Asn)
|
rs146091205
|
|
|
NM_032043.3(BRIP1):c.2319T>C (p.Asp773=)
|
rs1555590447
|
|
|
NM_032043.3(BRIP1):c.2321A>G (p.Asp774Gly)
|
rs992780498
|
|
|
NM_032043.3(BRIP1):c.2321A>T (p.Asp774Val)
|
|
|
|
NM_032043.3(BRIP1):c.2322C>A (p.Asp774Glu)
|
rs1057520434
|
|
|
NM_032043.3(BRIP1):c.2322C>T (p.Asp774=)
|
rs1057520434
|
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
|
NM_032043.3(BRIP1):c.2326G>A (p.Ala776Thr)
|
rs2077007192
|
|
|
NM_032043.3(BRIP1):c.2327C>A (p.Ala776Asp)
|
rs1555590421
|
|
|
NM_032043.3(BRIP1):c.2328C>T (p.Ala776=)
|
rs786203725
|
|
|
NM_032043.3(BRIP1):c.2329C>G (p.Arg777Gly)
|
rs768555161
|
|
|
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys)
|
rs768555161
|
|
|
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
|
|
|
|
NM_032043.3(BRIP1):c.232G>A (p.Glu78Lys)
|
rs2145830931
|
|
|
NM_032043.3(BRIP1):c.2330G>C (p.Arg777Pro)
|
rs747568830
|
|
|
NM_032043.3(BRIP1):c.2332G>A (p.Ala778Thr)
|
rs2144676807
|
|
|
NM_032043.3(BRIP1):c.2332G>T (p.Ala778Ser)
|
rs2144676807
|
|
|
NM_032043.3(BRIP1):c.2333C>T (p.Ala778Val)
|
rs2077006983
|
|
|
NM_032043.3(BRIP1):c.2335G>A (p.Val779Ile)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2335G>C (p.Val779Leu)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2335G>T (p.Val779Phe)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2336T>A (p.Val779Asp)
|
rs1567779485
|
|
|
NM_032043.3(BRIP1):c.2338A>G (p.Ile780Val)
|
rs776131401
|
|
|
NM_032043.3(BRIP1):c.2339T>A (p.Ile780Lys)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339T>C (p.Ile780Thr)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2343A>G (p.Thr781=)
|
rs772636536
|
|
|
NM_032043.3(BRIP1):c.2343A>T (p.Thr781=)
|
rs772636536
|
|
|
NM_032043.3(BRIP1):c.2345T>A (p.Ile782Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2348G>A (p.Gly783Glu)
|
rs2077006387
|
|
|
NM_032043.3(BRIP1):c.2349A>T (p.Gly783=)
|
rs863224799
|
|
|
NM_032043.3(BRIP1):c.2350A>G (p.Ile784Val)
|
rs1603303771
|
|
|
NM_032043.3(BRIP1):c.2352T>A (p.Ile784=)
|
rs2077006255
|
|
|
NM_032043.3(BRIP1):c.2352T>C (p.Ile784=)
|
|
|
|
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu)
|
rs2144675861
|
|
|
NM_032043.3(BRIP1):c.2356T>C (p.Phe786Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2360C>G (p.Pro787Arg)
|
rs1555590356
|
|
|
NM_032043.3(BRIP1):c.2361A>C (p.Pro787=)
|
|
|
|
NM_032043.3(BRIP1):c.2364T>C (p.Asn788=)
|
rs587783045
|
|
|
NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu)
|
rs876661097
|
|
|
NM_032043.3(BRIP1):c.2366T>C (p.Val789Ala)
|
rs1060501728
|
|
|
NM_032043.3(BRIP1):c.236A>C (p.Lys79Thr)
|
rs2145830866
|
|
|
NM_032043.3(BRIP1):c.2370_2379+20del
|
rs2144674380
|
|
|
NM_032043.3(BRIP1):c.2372A>G (p.Asp791Gly)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.2373T>A (p.Asp791Glu)
|
rs876659615
|
|
|
NM_032043.3(BRIP1):c.2373T>C (p.Asp791=)
|
rs876659615
|
|
|
NM_032043.3(BRIP1):c.2374C>A (p.Leu792Ile)
|
rs2144675104
|
|
|
NM_032043.3(BRIP1):c.2375T>A (p.Leu792Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2376A>G (p.Leu792=)
|
rs554514054
|
|
|
NM_032043.3(BRIP1):c.2379+13A>C
|
|
|
|
NM_032043.3(BRIP1):c.2379+14A>T
|
rs2144674551
|
|
|
NM_032043.3(BRIP1):c.2379+17T>G
|
rs2144674490
|
|
|
NM_032043.3(BRIP1):c.2379+18T>C
|
|
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
|
NM_032043.3(BRIP1):c.2379+4G>A
|
|
|
|
NM_032043.3(BRIP1):c.2379+7C>T
|
rs1057520464
|
|
|
NM_032043.3(BRIP1):c.2379+8A>G
|
rs1567779307
|
|
|
NM_032043.3(BRIP1):c.2379+9T>C
|
rs1555590278
|
|
|
NM_032043.3(BRIP1):c.237A>G (p.Lys79=)
|
|
|
|
NM_032043.3(BRIP1):c.237del (p.Ala80fs)
|
rs2145830843
|
|
|
NM_032043.3(BRIP1):c.2380-10A>G
|
rs2061858108
|
|
|
NM_032043.3(BRIP1):c.2380-11A>T
|
|
|
|
NM_032043.3(BRIP1):c.2380-11dup
|
rs2144384661
|
|
|
NM_032043.3(BRIP1):c.2380-14T>C
|
rs2144384810
|
|
|
NM_032043.3(BRIP1):c.2380-18dup
|
|
|
|
NM_032043.3(BRIP1):c.2380-1G>A
|
rs1567756032
|
|
|
NM_032043.3(BRIP1):c.2380-20A>G
|
rs977667900
|
|
|
NM_032043.3(BRIP1):c.2380-2A>C
|
rs2144384449
|
|
|
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT
|
rs2061856480
|
|
|
NM_032043.3(BRIP1):c.2380-4T>C
|
rs2144384520
|
|
|
NM_032043.3(BRIP1):c.2380-6T>C
|
|
|
|
NM_032043.3(BRIP1):c.2380-7T>G
|
rs2144384592
|
|
|
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe)
|
rs1261005517
|
|
|
NM_032043.3(BRIP1):c.2383G>A (p.Glu795Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
|
NM_032043.3(BRIP1):c.2384A>G (p.Glu795Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val)
|
|
|
|
NM_032043.3(BRIP1):c.2386C>T (p.Leu796=)
|
rs1057521362
|
|
|
NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2388A>G (p.Leu796=)
|
rs1057521977
|
|
|
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
|
NM_032043.3(BRIP1):c.2394A>T (p.Arg798=)
|
rs540236878
|
|
|
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His)
|
rs1305107535
|
|
|
NM_032043.3(BRIP1):c.2399A>G (p.Tyr800Cys)
|
rs2061856846
|
|
|
NM_032043.3(BRIP1):c.23A>G (p.Tyr8Cys)
|
|
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2401A>G (p.Asn801Asp)
|
rs1408016407
|
|
|
NM_032043.3(BRIP1):c.2404G>A (p.Asp802Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly)
|
rs876660273
|
|
|
NM_032043.3(BRIP1):c.2406C>A (p.Asp802Glu)
|
rs748981650
|
|
|
NM_032043.3(BRIP1):c.2407C>T (p.His803Tyr)
|
rs2061856155
|
|
|
NM_032043.3(BRIP1):c.2409C>T (p.His803=)
|
rs762039913
|
|
|
NM_032043.3(BRIP1):c.240T>G (p.Ala80=)
|
rs745422385
|
|
|
NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg)
|
rs777277034
|
|
|
NM_032043.3(BRIP1):c.2412T>C (p.His804=)
|
rs1555580913
|
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
|
NM_032043.3(BRIP1):c.2415A>G (p.Ser805=)
|
rs769413097
|
|
|
NM_032043.3(BRIP1):c.2416A>G (p.Lys806Glu)
|
rs747622456
|
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
|
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly)
|
rs587780237
|
|
|
NM_032043.3(BRIP1):c.2425G>A (p.Gly809Ser)
|
rs1555580892
|
|
|
NM_032043.3(BRIP1):c.2426G>A (p.Gly809Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val)
|
rs1555580886
|
|
|
NM_032043.3(BRIP1):c.2429T>C (p.Leu810Pro)
|
rs2061855206
|
|
|
NM_032043.3(BRIP1):c.2429T>G (p.Leu810Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2430T>C (p.Leu810=)
|
|
|
|
NM_032043.3(BRIP1):c.2431C>G (p.Leu811Val)
|
rs2144381821
|
|
|
NM_032043.3(BRIP1):c.2433A>G (p.Leu811=)
|
rs751455420
|
|
|
NM_032043.3(BRIP1):c.2433A>T (p.Leu811=)
|
rs751455420
|
|
|
NM_032043.3(BRIP1):c.2434C>A (p.Pro812Thr)
|
rs779915262
|
|
|
NM_032043.3(BRIP1):c.2435C>A (p.Pro812His)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2435C>G (p.Pro812Arg)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2435C>T (p.Pro812Leu)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2436T>A (p.Pro812=)
|
rs2061854737
|
|
|
NM_032043.3(BRIP1):c.2437G>C (p.Gly813Arg)
|
rs2144381512
|
|
|
NM_032043.3(BRIP1):c.2439C>T (p.Gly813=)
|
|
|
|
NM_032043.3(BRIP1):c.243A>C (p.Glu81Asp)
|
|
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
|
NM_032043.3(BRIP1):c.2440C>A (p.Arg814Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2440C>G (p.Arg814Gly)
|
rs201869624
|
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2444A>G (p.Gln815Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2445G>A (p.Gln815=)
|
rs764195906
|
|
|
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs)
|
rs2144381014
|
|
|
NM_032043.3(BRIP1):c.2446T>C (p.Trp816Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2446T>G (p.Trp816Gly)
|
rs1338241931
|
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
|
NM_032043.3(BRIP1):c.2448G>T (p.Trp816Cys)
|
rs1064795352
|
|
|
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys)
|
rs1555580828
|
|
|
NM_032043.3(BRIP1):c.2452G>A (p.Glu818Lys)
|
rs1555580819
|
|
|
NM_032043.3(BRIP1):c.2452G>C (p.Glu818Gln)
|
rs1555580819
|
|
|
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs)
|
rs2144380398
|
|
|
NM_032043.3(BRIP1):c.245T>A (p.Val82Glu)
|
rs876659594
|
|
|
NM_032043.3(BRIP1):c.245T>G (p.Val82Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2460A>G (p.Gln820=)
|
rs1555580812
|
|
|
NM_032043.3(BRIP1):c.2462C>T (p.Ala821Val)
|
rs876658697
|
|
|
NM_032043.3(BRIP1):c.2463A>G (p.Ala821=)
|
rs2144380143
|
|
|
NM_032043.3(BRIP1):c.2465A>G (p.Tyr822Cys)
|
rs587781572
|
|
|
NM_032043.3(BRIP1):c.2466C>T (p.Tyr822=)
|
rs2144379956
|
|
|
NM_032043.3(BRIP1):c.2468G>A (p.Arg823Lys)
|
rs45479297
|
|
|
NM_032043.3(BRIP1):c.2468G>T (p.Arg823Met)
|
rs45479297
|
|
|
NM_032043.3(BRIP1):c.2469G>A (p.Arg823=)
|
rs587780239
|
|
|
NM_032043.3(BRIP1):c.246A>G (p.Val82=)
|
rs864622659
|
|
|
NM_032043.3(BRIP1):c.2470G>T (p.Ala824Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)
|
rs767666616
|
|
|
NM_032043.3(BRIP1):c.2478C>G (p.Asn826Lys)
|
rs774939280
|
|
|
NM_032043.3(BRIP1):c.2479C>A (p.Gln827Lys)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2479C>G (p.Gln827Glu)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2481G>C (p.Gln827His)
|
rs2061853111
|
|
|
NM_032043.3(BRIP1):c.2483C>G (p.Ala828Gly)
|
rs2061853042
|
|
|
NM_032043.3(BRIP1):c.2484C>A (p.Ala828=)
|
|
|
|
NM_032043.3(BRIP1):c.2484C>T (p.Ala828=)
|
rs1277187413
|
|
|
NM_032043.3(BRIP1):c.2488G>A (p.Gly830Ser)
|
rs876659062
|
|
|
NM_032043.3(BRIP1):c.2490T>C (p.Gly830=)
|
|
|
|
NM_032043.3(BRIP1):c.2491A>G (p.Arg831Gly)
|
rs2144378901
|
|
|
NM_032043.3(BRIP1):c.2491del (p.Arg831fs)
|
rs1555580769
|
|
|
NM_032043.3(BRIP1):c.2492+10G>A
|
|
|
|
NM_032043.3(BRIP1):c.2492+11T>A
|
|
|
|
NM_032043.3(BRIP1):c.2492+11T>G
|
rs2061852455
|
|
|
NM_032043.3(BRIP1):c.2492+12G>A
|
rs1424282420
|
|
|
NM_032043.3(BRIP1):c.2492+13A>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+14A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+15A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+19A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+19A>T
|
rs983179829
|
|
|
NM_032043.3(BRIP1):c.2492+1G>C
|
rs1567755539
|
|
|
NM_032043.3(BRIP1):c.2492+1G>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+1del
|
rs1603293314
|
|
|
NM_032043.3(BRIP1):c.2492+2T>C
|
|
|
|
NM_032043.3(BRIP1):c.2492+3A>C
|
rs1555580758
|
|
|
NM_032043.3(BRIP1):c.2492+3A>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+5G>C
|
rs763222019
|
|
|
NM_032043.3(BRIP1):c.2492+7G>A
|
rs2144378579
|
|
|
NM_032043.3(BRIP1):c.2492+9A>C
|
|
|
|
NM_032043.3(BRIP1):c.2492+9A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492G>A (p.Arg831Lys)
|
rs771382903
|
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
|
NM_032043.3(BRIP1):c.2493-10T>A
|
rs776255327
|
|
|
NM_032043.3(BRIP1):c.2493-10T>C
|
rs776255327
|
|
|
NM_032043.3(BRIP1):c.2493-10dup
|
rs1457869893
|
|
|
NM_032043.3(BRIP1):c.2493-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2493-14C>T
|
rs2061479652
|
|
|
NM_032043.3(BRIP1):c.2493-15C>T
|
rs1009398860
|
|
|
NM_032043.3(BRIP1):c.2493-16T>C
|
rs1555574835
|
|
|
NM_032043.3(BRIP1):c.2493-16T>G
|
rs1555574835
|
|
|
NM_032043.3(BRIP1):c.2493-17T>C
|
|
|
|
NM_032043.3(BRIP1):c.2493-17_2493-16del
|
|
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
|
NM_032043.3(BRIP1):c.2493-2A>G
|
rs1603280621
|
|
|
NM_032043.3(BRIP1):c.2493-3T>G
|
rs2061479378
|
|
|
NM_032043.3(BRIP1):c.2493-3_2493-1del
|
|
|
|
NM_032043.3(BRIP1):c.2493-4C>G
|
rs1057521675
|
|
|
NM_032043.3(BRIP1):c.2493-8T>C
|
rs2144188159
|
|
|
NM_032043.3(BRIP1):c.2493-9T>G
|
|
|
|
NM_032043.3(BRIP1):c.2494T>C (p.Cys832Arg)
|
rs768222842
|
|
|
NM_032043.3(BRIP1):c.2494T>G (p.Cys832Gly)
|
rs768222842
|
|
|
NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2495G>T (p.Cys832Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val)
|
rs199831248
|
|
|
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr)
|
rs876660936
|
|
|
NM_032043.3(BRIP1):c.2500A>G (p.Arg834Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2501G>A (p.Arg834Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2504A>G (p.His835Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2505C>G (p.His835Gln)
|
rs775547651
|
|
|
NM_032043.3(BRIP1):c.2507G>T (p.Arg836Ile)
|
rs1060501736
|
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
|
NM_032043.3(BRIP1):c.2508A>C (p.Arg836Ser)
|
rs2061478740
|
|
|
NM_032043.3(BRIP1):c.2510A>G (p.Asn837Ser)
|
rs1555574810
|
|
|
NM_032043.3(BRIP1):c.2510del (p.Asn837fs)
|
rs2144187480
|
|
|
NM_032043.3(BRIP1):c.2512G>C (p.Asp838His)
|
|
|
|
NM_032043.3(BRIP1):c.2513A>T (p.Asp838Val)
|
rs1567737801
|
|
|
NM_032043.3(BRIP1):c.2515T>A (p.Trp839Arg)
|
rs1555574807
|
|
|
NM_032043.3(BRIP1):c.2515T>G (p.Trp839Gly)
|
rs1555574807
|
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
|
NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)
|
|
|
|
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.2521G>A (p.Ala841Thr)
|
rs1555574790
|
|
|
NM_032043.3(BRIP1):c.2524C>G (p.Leu842Val)
|
rs786201802
|
|
|
NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe)
|
rs786201802
|
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
|
NM_032043.3(BRIP1):c.2525T>C (p.Leu842Pro)
|
rs1060501751
|
|
|
NM_032043.3(BRIP1):c.2525T>G (p.Leu842Arg)
|
rs1060501751
|
|
|
NM_032043.3(BRIP1):c.2526T>C (p.Leu842=)
|
rs1603280539
|
|
|
NM_032043.3(BRIP1):c.2528T>C (p.Ile843Thr)
|
rs996693020
|
|
|
NM_032043.3(BRIP1):c.2532A>G (p.Leu844=)
|
rs1603280519
|
|
|
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His)
|
rs876659409
|
|
|
NM_032043.3(BRIP1):c.2537A>T (p.Asp846Val)
|
rs2144186438
|
|
|
NM_032043.3(BRIP1):c.2538T>C (p.Asp846=)
|
rs2144186341
|
|
|
NM_032043.3(BRIP1):c.2538T>G (p.Asp846Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2539G>A (p.Asp847Asn)
|
rs876659013
|
|
|
NM_032043.3(BRIP1):c.253T>C (p.Ser85Pro)
|
rs2145830182
|
|
|
NM_032043.3(BRIP1):c.2540A>G (p.Asp847Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2542C>T (p.Arg848Cys)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2545T>C (p.Phe849Leu)
|
rs786202317
|
|
|
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys)
|
rs2061477480
|
|
|
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)
|
rs587781830
|
|
|
NM_032043.3(BRIP1):c.2550G>T (p.Arg850Ser)
|
rs2144185990
|
|
|
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)
|
rs2061477443
|
|
|
NM_032043.3(BRIP1):c.2553T>G (p.Asn851Lys)
|
rs587781793
|
|
|
NM_032043.3(BRIP1):c.2556C>A (p.Asn852Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2556C>G (p.Asn852Lys)
|
rs876658785
|
|
|
NM_032043.3(BRIP1):c.2556C>T (p.Asn852=)
|
rs876658785
|
|
|
NM_032043.3(BRIP1):c.2558C>G (p.Pro853Arg)
|
rs1060501775
|
|
|
NM_032043.3(BRIP1):c.2558C>T (p.Pro853Leu)
|
rs1060501775
|
|
|
NM_032043.3(BRIP1):c.255A>C (p.Ser85=)
|
rs2078909755
|
|
|
NM_032043.3(BRIP1):c.255A>G (p.Ser85=)
|
|
|
|
NM_032043.3(BRIP1):c.2561G>A (p.Ser854Asn)
|
rs2061477133
|
|
|
NM_032043.3(BRIP1):c.2561G>T (p.Ser854Ile)
|
rs2061477133
|
|
|
NM_032043.3(BRIP1):c.2562T>C (p.Ser854=)
|
rs1555574734
|
|
|
NM_032043.3(BRIP1):c.2562T>G (p.Ser854Arg)
|
rs1555574734
|
|
|
NM_032043.3(BRIP1):c.2563C>A (p.Arg855Ser)
|
rs146031731
|
|
|
NM_032043.3(BRIP1):c.2564G>T (p.Arg855Leu)
|
rs200894063
|
|
|
NM_032043.3(BRIP1):c.2565C>T (p.Arg855=)
|
|
|
|
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His)
|
rs2061476921
|
|
|
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)
|
rs370175724
|
|
|
NM_032043.3(BRIP1):c.256T>C (p.Cys86Arg)
|
rs1555617900
|
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
|
NM_032043.3(BRIP1):c.2570T>C (p.Ile857Thr)
|
rs766432760
|
|
|
NM_032043.3(BRIP1):c.2571A>T (p.Ile857=)
|
rs1427254734
|
|
|
NM_032043.3(BRIP1):c.2574T>C (p.Ser858=)
|
rs1555574712
|
|
|
NM_032043.3(BRIP1):c.2575+10C>T
|
rs1060504322
|
|
|
NM_032043.3(BRIP1):c.2575+12G>A
|
rs1555574706
|
|
|
NM_032043.3(BRIP1):c.2575+12G>C
|
rs1555574706
|
|
|
NM_032043.3(BRIP1):c.2575+13C>G
|
|
|
|
NM_032043.3(BRIP1):c.2575+14T>C
|
rs1567737501
|
|
|
NM_032043.3(BRIP1):c.2575+15G>C
|
|
|
|
NM_032043.3(BRIP1):c.2575+16G>A
|
|
|
|
NM_032043.3(BRIP1):c.2575+1G>C
|
|
|
|
NM_032043.3(BRIP1):c.2575+1G>T
|
rs1567737536
|
|
|
NM_032043.3(BRIP1):c.2575+20T>C
|
|
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
|
NM_032043.3(BRIP1):c.2575+6A>G
|
rs1555574710
|
|
|
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg)
|
rs2061476512
|
|
|
NM_032043.3(BRIP1):c.2576-12C>A
|
rs2061362510
|
|
|
NM_032043.3(BRIP1):c.2576-12C>T
|
rs2061362510
|
|
|
NM_032043.3(BRIP1):c.2576-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-14A>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-16T>G
|
|
|
|
NM_032043.3(BRIP1):c.2576-17T>C
|
rs1057517647
|
|
|
NM_032043.3(BRIP1):c.2576-18G>A
|
rs1369955810
|
|
|
NM_032043.3(BRIP1):c.2576-18G>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-19G>A
|
rs1057521888
|
|
|
NM_032043.3(BRIP1):c.2576-1G>A
|
rs587782539
|
|
|
NM_032043.3(BRIP1):c.2576-1G>T
|
rs587782539
|
|
|
NM_032043.3(BRIP1):c.2576-2A>G
|
rs869312763
|
|
|
NM_032043.3(BRIP1):c.2576-3T>C
|
rs2144119000
|
|
|
NM_032043.3(BRIP1):c.2576-4T>C
|
rs1603277027
|
|
|
NM_032043.3(BRIP1):c.2576-6C>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-7T>A
|
rs759408257
|
|
|
NM_032043.3(BRIP1):c.2576-8T>C
|
rs587780874
|
|
|
NM_032043.3(BRIP1):c.2578C>T (p.Leu860Phe)
|
rs1555573507
|
|
|
NM_032043.3(BRIP1):c.2580T>C (p.Leu860=)
|
rs1603277017
|
|
|
NM_032043.3(BRIP1):c.2581T>C (p.Ser861Pro)
|
rs1567732145
|
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
|
NM_032043.3(BRIP1):c.2583T>G (p.Ser861=)
|
rs2144118726
|
|
|
NM_032043.3(BRIP1):c.2584A>G (p.Lys862Glu)
|
rs1603277012
|
|
|
NM_032043.3(BRIP1):c.2586A>G (p.Lys862=)
|
rs745318756
|
|
|
NM_032043.3(BRIP1):c.2586A>T (p.Lys862Asn)
|
rs745318756
|
|
|
NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg)
|
rs876660452
|
|
|
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.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
|
NM_032043.3(BRIP1):c.2591T>C (p.Val864Ala)
|
rs1294102948
|
|
|
NM_032043.3(BRIP1):c.2592A>G (p.Val864=)
|
rs2061361778
|
|
|
NM_032043.3(BRIP1):c.2594G>C (p.Arg865Pro)
|
rs781609846
|
|
|
NM_032043.3(BRIP1):c.2595G>A (p.Arg865=)
|
|
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2597A>T (p.Gln866Leu)
|
rs1603276987
|
|
|
NM_032043.3(BRIP1):c.2599C>A (p.Gln867Lys)
|
rs182028200
|
|
|
NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser)
|
rs1555617897
|
|
|
NM_032043.3(BRIP1):c.259T>C (p.Cys87Arg)
|
rs1555617897
|
|
|
NM_032043.3(BRIP1):c.25A>G (p.Thr9Ala)
|
rs2078973246
|
|
|
NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2603T>C (p.Ile868Thr)
|
rs2061361421
|
|
|
NM_032043.3(BRIP1):c.2604T>C (p.Ile868=)
|
rs1555573489
|
|
|
NM_032043.3(BRIP1):c.2605C>G (p.Gln869Glu)
|
rs1060501766
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
|
NM_032043.3(BRIP1):c.2606A>C (p.Gln869Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
|
|
|
|
NM_032043.3(BRIP1):c.2609A>C (p.His870Pro)
|
rs864622201
|
|
|
NM_032043.3(BRIP1):c.2609A>G (p.His870Arg)
|
|
|
|
NM_032043.3(BRIP1):c.260G>A (p.Cys87Tyr)
|
rs863224800
|
|
|
NM_032043.3(BRIP1):c.260G>C (p.Cys87Ser)
|
rs863224800
|
|
|
NM_032043.3(BRIP1):c.2610C>A (p.His870Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2610C>G (p.His870Gln)
|
rs2144117805
|
|
|
NM_032043.3(BRIP1):c.2611C>T (p.His871Tyr)
|
rs786203288
|
|
|
NM_032043.3(BRIP1):c.2613T>A (p.His871Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2614T>A (p.Ser872Thr)
|
rs2061360803
|
|
|
NM_032043.3(BRIP1):c.2615C>T (p.Ser872Leu)
|
rs587781964
|
|
|
NM_032043.3(BRIP1):c.2617A>T (p.Thr873Ser)
|
rs758444508
|
|
|
NM_032043.3(BRIP1):c.2624A>G (p.Glu875Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2626A>G (p.Ser876Gly)
|
rs1555573469
|
|
|
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)
|
rs750961319
|
|
|
NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2628T>G (p.Ser876Arg)
|
rs1032574757
|
|
|
NM_032043.3(BRIP1):c.2629G>A (p.Ala877Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2629G>C (p.Ala877Pro)
|
rs1567731966
|
|
|
NM_032043.3(BRIP1):c.262T>G (p.Cys88Gly)
|
rs1555617890
|
|
|
NM_032043.3(BRIP1):c.2630C>T (p.Ala877Val)
|
rs1555573465
|
|
|
NM_032043.3(BRIP1):c.2631A>G (p.Ala877=)
|
rs786201336
|
|
|
NM_032043.3(BRIP1):c.2634G>A (p.Leu878=)
|
|
|
|
NM_032043.3(BRIP1):c.2635G>A (p.Glu879Lys)
|
rs1391013628
|
|
|
NM_032043.3(BRIP1):c.2636A>G (p.Glu879Gly)
|
rs1202665874
|
|
|
NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2640C>T (p.Ser880=)
|
rs2144116731
|
|
|
NM_032043.3(BRIP1):c.2640del (p.Leu881fs)
|
rs1567731917
|
|
|
NM_032043.3(BRIP1):c.2642T>C (p.Leu881Ser)
|
rs2061359874
|
|
|
NM_032043.3(BRIP1):c.2642T>G (p.Leu881Trp)
|
rs2061359874
|
|
|
NM_032043.3(BRIP1):c.2643G>A (p.Leu881=)
|
rs2144116635
|
|
|
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys)
|
rs2061359691
|
|
|
NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)
|
|
|
|
NM_032043.3(BRIP1):c.264T>C (p.Cys88=)
|
|
|
|
NM_032043.3(BRIP1):c.2655C>T (p.Ser885=)
|
rs2061359430
|
|
|
NM_032043.3(BRIP1):c.2656A>C (p.Lys886Gln)
|
|
|
|
NM_032043.3(BRIP1):c.265G>A (p.Ala89Thr)
|
rs1555617884
|
|
|
NM_032043.3(BRIP1):c.265G>T (p.Ala89Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2661G>T (p.Lys887Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp)
|
rs757668121
|
|
|
NM_032043.3(BRIP1):c.2663A>C (p.His888Pro)
|
rs2061359359
|
|
|
NM_032043.3(BRIP1):c.2664T>C (p.His888=)
|
rs2144115975
|
|
|
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2666A>G (p.Gln889Arg)
|
rs2061359230
|
|
|
NM_032043.3(BRIP1):c.2667A>G (p.Gln889=)
|
|
|
|
NM_032043.3(BRIP1):c.2668A>C (p.Lys890Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2669A>G (p.Lys890Arg)
|
rs902432731
|
|
|
NM_032043.3(BRIP1):c.2670A>G (p.Lys890=)
|
rs1603276885
|
|
|
NM_032043.3(BRIP1):c.2670del (p.Val891fs)
|
rs2144115743
|
|
|
NM_032043.3(BRIP1):c.2671G>A (p.Val891Ile)
|
rs754224663
|
|
|
NM_032043.3(BRIP1):c.2672T>C (p.Val891Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2674C>G (p.Leu892Val)
|
rs2144115542
|
|
|
NM_032043.3(BRIP1):c.2675T>A (p.Leu892His)
|
rs2061358811
|
|
|
NM_032043.3(BRIP1):c.2676T>C (p.Leu892=)
|
rs2144115485
|
|
|
NM_032043.3(BRIP1):c.2677A>C (p.Asn893His)
|
rs2144115463
|
|
|
NM_032043.3(BRIP1):c.2679T>C (p.Asn893=)
|
rs2144115408
|
|
|
NM_032043.3(BRIP1):c.267A>G (p.Ala89=)
|
rs764027029
|
|
|
NM_032043.3(BRIP1):c.267A>T (p.Ala89=)
|
rs764027029
|
|
|
NM_032043.3(BRIP1):c.2680G>A (p.Val894Ile)
|
rs1603276880
|
|
|
NM_032043.3(BRIP1):c.2682A>G (p.Val894=)
|
rs1555573439
|
|
|
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
|
|
|
|
NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
|
NM_032043.3(BRIP1):c.2686A>C (p.Ile896Leu)
|
rs764406913
|
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
|
NM_032043.3(BRIP1):c.2691G>A (p.Lys897=)
|
rs1555573425
|
|
|
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
|
|
|
|
NM_032043.3(BRIP1):c.2693A>G (p.Asp898Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2697A>C (p.Arg899Ser)
|
rs1603276849
|
|
|
NM_032043.3(BRIP1):c.2698A>C (p.Thr900Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2699C>A (p.Thr900Asn)
|
rs1359809807
|
|
|
NM_032043.3(BRIP1):c.2699C>G (p.Thr900Ser)
|
rs1359809807
|
|
|
NM_032043.3(BRIP1):c.2699C>T (p.Thr900Ile)
|
|
|
|
NM_032043.3(BRIP1):c.26del (p.Thr9fs)
|
rs2145865744
|
|
|
NM_032043.3(BRIP1):c.2700C>A (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2700C>G (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2700C>T (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
|
|
|
|
NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys)
|
rs1603276837
|
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro)
|
rs2061357542
|
|
|
NM_032043.3(BRIP1):c.2708A>G (p.Gln903Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2709G>A (p.Gln903=)
|
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
|
NM_032043.3(BRIP1):c.270C>T (p.Cys90=)
|
rs1060501740
|
|
|
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn)
|
rs1555573413
|
|
|
NM_032043.3(BRIP1):c.2712C>A (p.Asp904Glu)
|
rs1567731807
|
|
|
NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser)
|
rs1555573412
|
|
|
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)
|
rs759080195
|
|
|
NM_032043.3(BRIP1):c.2718G>T (p.Glu906Asp)
|
rs1042327124
|
|
|
NM_032043.3(BRIP1):c.271C>T (p.His91Tyr)
|
rs2145829433
|
|
|
NM_032043.3(BRIP1):c.2720C>T (p.Ser907Phe)
|
rs2061357079
|
|
|
NM_032043.3(BRIP1):c.2721T>A (p.Ser907=)
|
rs774467171
|
|
|
NM_032043.3(BRIP1):c.2721T>C (p.Ser907=)
|
rs774467171
|
|
|
NM_032043.3(BRIP1):c.2725C>A (p.Leu909Ile)
|
|
|
|
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val)
|
rs587781853
|
|
|
NM_032043.3(BRIP1):c.2725C>T (p.Leu909Phe)
|
rs587781853
|
|
|
NM_032043.3(BRIP1):c.2726T>C (p.Leu909Pro)
|
rs770966270
|
|
|
NM_032043.3(BRIP1):c.2726T>G (p.Leu909Arg)
|
rs770966270
|
|
|
NM_032043.3(BRIP1):c.2728G>C (p.Glu910Gln)
|
rs1007808618
|
|
|
NM_032043.3(BRIP1):c.2729A>G (p.Glu910Gly)
|
rs1603276787
|
|
|
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs)
|
rs2144113535
|
|
|
NM_032043.3(BRIP1):c.272A>C (p.His91Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2731G>T (p.Val911Leu)
|
rs1555573392
|
|
|
NM_032043.3(BRIP1):c.2732T>G (p.Val911Gly)
|
rs2144113358
|
|
|
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
|
|
|
|
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn)
|
rs571949350
|
|
|
NM_032043.3(BRIP1):c.2737T>G (p.Ser913Ala)
|
rs1555573382
|
|
|
NM_032043.3(BRIP1):c.2737del (p.Ser913fs)
|
rs1555573386
|
|
|
NM_032043.3(BRIP1):c.2739T>C (p.Ser913=)
|
rs878855147
|
|
|
NM_032043.3(BRIP1):c.273T>G (p.His91Gln)
|
rs2145829382
|
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
|
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.2746T>A (p.Tyr916Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2746T>C (p.Tyr916His)
|
rs2144112786
|
|
|
NM_032043.3(BRIP1):c.2749A>G (p.Ser917Gly)
|
rs1603276749
|
|
|
NM_032043.3(BRIP1):c.274T>C (p.Ser92Pro)
|
rs755930156
|
|
|
NM_032043.3(BRIP1):c.2752A>G (p.Thr918Ala)
|
rs1060501759
|
|
|
NM_032043.3(BRIP1):c.2753C>G (p.Thr918Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2753C>T (p.Thr918Ile)
|
rs587781298
|
|
|
NM_032043.3(BRIP1):c.2754C>T (p.Thr918=)
|
rs878855148
|
|
|
NM_032043.3(BRIP1):c.2754_2755delinsTC (p.Ser919Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs)
|
rs1603276728
|
|
|
NM_032043.3(BRIP1):c.2759C>T (p.Pro920Leu)
|
|
|
|
NM_032043.3(BRIP1):c.275C>T (p.Ser92Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2761T>A (p.Tyr921Asn)
|
rs2144112225
|
|
|
NM_032043.3(BRIP1):c.2763T>C (p.Tyr921=)
|
rs1555573356
|
|
|
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del)
|
rs2061355023
|
|
|
NM_032043.3(BRIP1):c.2766A>G (p.Leu922=)
|
rs2144112073
|
|
|
NM_032043.3(BRIP1):c.2767C>T (p.Leu923=)
|
rs1057521544
|
|
|
NM_032043.3(BRIP1):c.2768T>C (p.Leu923Pro)
|
rs2144112007
|
|
|
NM_032043.3(BRIP1):c.2769G>A (p.Leu923=)
|
rs1183897309
|
|
|
NM_032043.3(BRIP1):c.276A>G (p.Ser92=)
|
rs786202281
|
|
|
NM_032043.3(BRIP1):c.2770G>A (p.Glu924Lys)
|
rs1555573342
|
|
|
NM_032043.3(BRIP1):c.2771A>T (p.Glu924Val)
|
rs1567731533
|
|
|
NM_032043.3(BRIP1):c.2772A>G (p.Glu924=)
|
rs730881625
|
|
|
NM_032043.3(BRIP1):c.2773G>A (p.Ala925Thr)
|
rs2061355245
|
|
|
NM_032043.3(BRIP1):c.2774C>G (p.Ala925Gly)
|
rs2061355212
|
|
|
NM_032043.3(BRIP1):c.2775A>G (p.Ala925=)
|
rs1340804078
|
|
|
NM_032043.3(BRIP1):c.2779A>G (p.Ser927Gly)
|
rs2061355061
|
|
|
NM_032043.3(BRIP1):c.2785C>T (p.Leu929=)
|
rs1603276698
|
|
|
NM_032043.3(BRIP1):c.2786T>C (p.Leu929Pro)
|
rs772087074
|
|
|
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.2788T>A (p.Ser930Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2790A>C (p.Ser930=)
|
|
|
|
NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser)
|
rs745940032
|
|
|
NM_032043.3(BRIP1):c.2792C>A (p.Pro931Gln)
|
rs932408573
|
|
|
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu)
|
rs932408573
|
|
|
NM_032043.3(BRIP1):c.2792del (p.Pro931fs)
|
rs1555573327
|
|
|
NM_032043.3(BRIP1):c.2799T>C (p.Asn933=)
|
rs2144110883
|
|
|
NM_032043.3(BRIP1):c.2801T>G (p.Phe934Cys)
|
rs778916092
|
|
|
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met)
|
rs1219152456
|
|
|
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)
|
rs4988356
|
|
|
NM_032043.3(BRIP1):c.2805G>C (p.Val935=)
|
|
|
|
NM_032043.3(BRIP1):c.2807A>G (p.Glu936Gly)
|
rs878855149
|
|
|
NM_032043.3(BRIP1):c.2807A>T (p.Glu936Val)
|
rs878855149
|
|
|
NM_032043.3(BRIP1):c.2808A>G (p.Glu936=)
|
|
|
|
NM_032043.3(BRIP1):c.2809G>A (p.Asp937Asn)
|
rs2061354513
|
|
|
NM_032043.3(BRIP1):c.2809G>T (p.Asp937Tyr)
|
rs2061354513
|
|
|
NM_032043.3(BRIP1):c.2810A>G (p.Asp937Gly)
|
rs2061354479
|
|
|
NM_032043.3(BRIP1):c.2811T>G (p.Asp937Glu)
|
rs374335608
|
|
|
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2813A>G (p.Glu938Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2814A>C (p.Glu938Asp)
|
rs1555573311
|
|
|
NM_032043.3(BRIP1):c.2814A>G (p.Glu938=)
|
rs1555573311
|
|
|
NM_032043.3(BRIP1):c.2815G>A (p.Ala939Thr)
|
rs2061354305
|
|
|
NM_032043.3(BRIP1):c.2817A>G (p.Ala939=)
|
|
|
|
NM_032043.3(BRIP1):c.2820G>C (p.Lys940Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2821A>C (p.Ile941Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2821A>G (p.Ile941Val)
|
rs2144110175
|
|
|
NM_032043.3(BRIP1):c.2824T>A (p.Cys942Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg)
|
rs1567731308
|
|
|
NM_032043.3(BRIP1):c.2825G>A (p.Cys942Tyr)
|
rs370330739
|
|
|
NM_032043.3(BRIP1):c.2827G>C (p.Val943Leu)
|
rs1401830781
|
|
|
NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala)
|
rs786204143
|
|
|
NM_032043.3(BRIP1):c.2829C>A (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2829C>G (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2829C>T (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
|
NM_032043.3(BRIP1):c.2831A>C (p.Gln944Pro)
|
rs148232408
|
|
|
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg)
|
rs148232408
|
|
|
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
|
|
|
|
NM_032043.3(BRIP1):c.2832G>C (p.Gln944His)
|
rs1603276606
|
|
|
NM_032043.3(BRIP1):c.2833G>A (p.Glu945Lys)
|
rs863224802
|
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
|
NM_032043.3(BRIP1):c.2835A>G (p.Glu945=)
|
rs786203633
|
|
|
NM_032043.3(BRIP1):c.2836C>A (p.Leu946Ile)
|
rs1603276593
|
|
|
NM_032043.3(BRIP1):c.2836C>G (p.Leu946Val)
|
rs1603276593
|
|
|
NM_032043.3(BRIP1):c.2837T>A (p.Leu946Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
|
rs2061353270
|
|
|
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
|
|
|
|
NM_032043.3(BRIP1):c.283T>G (p.Phe95Val)
|
|
|
|
NM_032043.3(BRIP1):c.2840A>G (p.Gln947Arg)
|
rs876659756
|
|
|
NM_032043.3(BRIP1):c.2844T>G (p.Cys948Trp)
|
rs1567731150
|
|
|
NM_032043.3(BRIP1):c.2847T>C (p.Pro949=)
|
rs45499991
|
|
|
NM_032043.3(BRIP1):c.2847T>G (p.Pro949=)
|
rs45499991
|
|
|
NM_032043.3(BRIP1):c.2848A>C (p.Lys950Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2850A>C (p.Lys950Asn)
|
rs1603276576
|
|
|
NM_032043.3(BRIP1):c.2851A>G (p.Ile951Val)
|
rs730881626
|
|
|
NM_032043.3(BRIP1):c.2853T>C (p.Ile951=)
|
|
|
|
NM_032043.3(BRIP1):c.2855T>G (p.Ile952Ser)
|
rs1060501735
|
|
|
NM_032043.3(BRIP1):c.2857A>G (p.Thr953Ala)
|
rs587780245
|
|
|
NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2859C>A (p.Thr953=)
|
rs786201685
|
|
|
NM_032043.3(BRIP1):c.2861A>C (p.Lys954Thr)
|
rs2144108739
|
|
|
NM_032043.3(BRIP1):c.2861A>G (p.Lys954Arg)
|
rs2144108739
|
|
|
NM_032043.3(BRIP1):c.2863A>G (p.Asn955Asp)
|
rs587782244
|
|
|
NM_032043.3(BRIP1):c.2864A>G (p.Asn955Ser)
|
rs2144108643
|
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
|
NM_032043.3(BRIP1):c.2868A>G (p.Ser956=)
|
rs1060504321
|
|
|
NM_032043.3(BRIP1):c.2869C>G (p.Pro957Ala)
|
rs2061352600
|
|
|
NM_032043.3(BRIP1):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu)
|
rs786203077
|
|
|
NM_032043.3(BRIP1):c.2871T>C (p.Pro957=)
|
rs786202095
|
|
|
NM_032043.3(BRIP1):c.2872C>T (p.Leu958=)
|
rs1555573260
|
|
|
NM_032043.3(BRIP1):c.2873T>C (p.Leu958Pro)
|
rs145859791
|
|
|
NM_032043.3(BRIP1):c.2874A>C (p.Leu958=)
|
|
|
|
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg)
|
rs1567731036
|
|
|
NM_032043.3(BRIP1):c.2878A>C (p.Ser960Arg)
|
rs1603276532
|
|
|
NM_032043.3(BRIP1):c.2878A>G (p.Ser960Gly)
|
rs1603276532
|
|
|
NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile)
|
rs2078908690
|
|
|
NM_032043.3(BRIP1):c.2882G>A (p.Ser961Asn)
|
rs1060501732
|
|
|
NM_032043.3(BRIP1):c.2883C>T (p.Ser961=)
|
rs367728797
|
|
|
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val)
|
rs1603276520
|
|
|
NM_032043.3(BRIP1):c.288A>G (p.Thr96=)
|
rs1278121295
|
|
|
NM_032043.3(BRIP1):c.2891C>T (p.Ser964Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2894G>A (p.Arg965Lys)
|
rs2061351932
|
|
|
NM_032043.3(BRIP1):c.2895A>G (p.Arg965=)
|
rs2061351890
|
|
|
NM_032043.3(BRIP1):c.2896A>G (p.Lys966Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2897A>G (p.Lys966Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2898G>A (p.Lys966=)
|
rs1603276512
|
|
|
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)
|
rs1305928655
|
|
|
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
|
|
|
|
NM_032043.3(BRIP1):c.289A>T (p.Asn97Tyr)
|
rs2078908581
|
|
|
NM_032043.3(BRIP1):c.28A>G (p.Ile10Val)
|
rs945685514
|
|
|
NM_032043.3(BRIP1):c.2905+117_2905+118insTA
|
rs2144105643
|
|
|
NM_032043.3(BRIP1):c.2905+11T>C
|
|
|
|
NM_032043.3(BRIP1):c.2905+13C>A
|
rs2144107162
|
|
|
NM_032043.3(BRIP1):c.2905+16C>G
|
rs778341139
|
|
|
NM_032043.3(BRIP1):c.2905+17C>A
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+17C>G
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+17C>T
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+18C>T
|
|
|
|
NM_032043.3(BRIP1):c.2905+19A>G
|
rs1363568922
|
|
|
NM_032043.3(BRIP1):c.2905+19_2905+23del
|
rs1157279744
|
|
|
NM_032043.3(BRIP1):c.2905+1G>A
|
rs876660203
|
|
|
NM_032043.3(BRIP1):c.2905+2T>A
|
|
|
|
NM_032043.3(BRIP1):c.2905+3A>T
|
|
|
|
NM_032043.3(BRIP1):c.2905+4T>A
|
rs373835270
|
|
|
NM_032043.3(BRIP1):c.2905+5G>A
|
|
|
|
NM_032043.3(BRIP1):c.2905+9A>C
|
rs770944170
|
|
|
NM_032043.3(BRIP1):c.2906-10G>A
|
rs1437222408
|
|
|
NM_032043.3(BRIP1):c.2906-13C>A
|
|
|
|
NM_032043.3(BRIP1):c.2906-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2906-15T>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-17A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-18A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-18A>G
|
|
|
|
NM_032043.3(BRIP1):c.2906-18dup
|
rs1456830185
|
|
|
NM_032043.3(BRIP1):c.2906-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-3T>A
|
rs370819200
|
|
|
NM_032043.3(BRIP1):c.2906-3T>G
|
rs370819200
|
|
|
NM_032043.3(BRIP1):c.2906-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.2906-7T>C
|
rs1237575383
|
|
|
NM_032043.3(BRIP1):c.2906-7T>G
|
rs1237575383
|
|
|
NM_032043.3(BRIP1):c.2906-8A>G
|
rs1555573005
|
|
|
NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser)
|
rs1603275723
|
|
|
NM_032043.3(BRIP1):c.2907T>C (p.Asn969=)
|
rs1555572999
|
|
|
NM_032043.3(BRIP1):c.2908G>A (p.Asp970Asn)
|
rs1555572994
|
|
|
NM_032043.3(BRIP1):c.2909A>C (p.Asp970Ala)
|
|
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
|
NM_032043.3(BRIP1):c.2913A>G (p.Pro971=)
|
rs1603275716
|
|
|
NM_032043.3(BRIP1):c.2914G>C (p.Val972Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2915T>G (p.Val972Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2916A>G (p.Val972=)
|
|
|
|
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile)
|
rs1060501727
|
|
|
NM_032043.3(BRIP1):c.2917T>G (p.Phe973Val)
|
rs1060501727
|
|
|
NM_032043.3(BRIP1):c.291C>A (p.Asn97Lys)
|
rs766561078
|
|
|
NM_032043.3(BRIP1):c.291C>T (p.Asn97=)
|
rs766561078
|
|
|
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
|
|
|
|
NM_032043.3(BRIP1):c.2923G>C (p.Glu975Gln)
|
rs1603275707
|
|
|
NM_032043.3(BRIP1):c.2929G>A (p.Ala977Thr)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2929G>C (p.Ala977Pro)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2929G>T (p.Ala977Ser)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
|
NM_032043.3(BRIP1):c.2932G>A (p.Gly978Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg)
|
rs2061326304
|
|
|
NM_032043.3(BRIP1):c.2938G>C (p.Ala980Pro)
|
rs2061325944
|
|
|
NM_032043.3(BRIP1):c.2939C>A (p.Ala980Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2940A>C (p.Ala980=)
|
rs1603275683
|
|
|
NM_032043.3(BRIP1):c.2944A>G (p.Lys982Glu)
|
rs1316369686
|
|
|
NM_032043.3(BRIP1):c.2946A>T (p.Lys982Asn)
|
rs2144093397
|
|
|
NM_032043.3(BRIP1):c.2947A>G (p.Ile983Val)
|
rs755337038
|
|
|
NM_032043.3(BRIP1):c.2947A>T (p.Ile983Phe)
|
rs755337038
|
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
|
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)
|
rs587781417
|
|
|
NM_032043.3(BRIP1):c.2949T>G (p.Ile983Met)
|
rs746715917
|
|
|
NM_032043.3(BRIP1):c.294T>C (p.Asn98=)
|
rs1555617859
|
|
|
NM_032043.3(BRIP1):c.294T>G (p.Asn98Lys)
|
rs1555617859
|
|
|
NM_032043.3(BRIP1):c.2950G>A (p.Val984Met)
|
rs2061325330
|
|
|
NM_032043.3(BRIP1):c.2950G>T (p.Val984Leu)
|
rs2061325330
|
|
|
NM_032043.3(BRIP1):c.2953A>G (p.Ile985Val)
|
|
|
|
NM_032043.3(BRIP1):c.2954T>C (p.Ile985Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2958C>T (p.Ser986=)
|
rs1603275662
|
|
|
NM_032043.3(BRIP1):c.2959A>C (p.Arg987=)
|
rs1603275660
|
|
|
NM_032043.3(BRIP1):c.295G>A (p.Asp99Asn)
|
rs1603366321
|
|
|
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser)
|
rs1567729555
|
|
|
NM_032043.3(BRIP1):c.2962T>C (p.Ser988Pro)
|
rs2061324880
|
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
|
NM_032043.3(BRIP1):c.2963C>T (p.Ser988Phe)
|
rs758032378
|
|
|
NM_032043.3(BRIP1):c.2966C>G (p.Thr989Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
|
|
|
|
NM_032043.3(BRIP1):c.2969G>A (p.Ser990Asn)
|
rs2144092757
|
|
|
NM_032043.3(BRIP1):c.2970C>G (p.Ser990Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2970C>T (p.Ser990=)
|
rs1603275650
|
|
|
NM_032043.3(BRIP1):c.2972C>G (p.Pro991Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2972C>T (p.Pro991Leu)
|
rs2061324725
|
|
|
NM_032043.3(BRIP1):c.2973A>G (p.Pro991=)
|
|
|
|
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser)
|
rs1276811545
|
|
|
NM_032043.3(BRIP1):c.2975C>A (p.Thr992Asn)
|
rs2061324557
|
|
|
NM_032043.3(BRIP1):c.2975C>T (p.Thr992Ile)
|
rs2061324557
|
|
|
NM_032043.3(BRIP1):c.2978T>A (p.Phe993Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs)
|
rs2144092520
|
|
|
NM_032043.3(BRIP1):c.2979C>T (p.Phe993=)
|
|
|
|
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
|
|
|
|
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)
|
rs201617644
|
|
|
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
|
|
|
|
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
|
|
|
|
NM_032043.3(BRIP1):c.2983A>G (p.Lys995Glu)
|
rs1555572929
|
|
|
NM_032043.3(BRIP1):c.2986C>G (p.Gln996Glu)
|
rs1567729513
|
|
|
NM_032043.3(BRIP1):c.2987A>G (p.Gln996Arg)
|
rs1603275641
|
|
|
NM_032043.3(BRIP1):c.298A>T (p.Met100Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
|
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.2991A>C (p.Thr997=)
|
rs45466996
|
|
|
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)
|
rs45466996
|
|
|
NM_032043.3(BRIP1):c.2992A>G (p.Lys998Glu)
|
rs1603275633
|
|
|
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.2994G>A (p.Lys998=)
|
rs757225144
|
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
|
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2996G>T (p.Arg999Ile)
|
rs1603275620
|
|
|
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)
|
rs587782427
|
|
|
NM_032043.3(BRIP1):c.3002G>A (p.Ser1001Asn)
|
rs1603275610
|
|
|
NM_032043.3(BRIP1):c.3002G>C (p.Ser1001Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3003C>T (p.Ser1001=)
|
rs2144091676
|
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
|
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3009A>C (p.Ser1003=)
|
|
|
|
NM_032043.3(BRIP1):c.3009A>G (p.Ser1003=)
|
rs751823379
|
|
|
NM_032043.3(BRIP1):c.3015T>C (p.Phe1005=)
|
|
|
|
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter)
|
rs1603275598
|
|
|
NM_032043.3(BRIP1):c.3017A>G (p.Asn1006Ser)
|
|
|
|
NM_032043.3(BRIP1):c.301A>G (p.Asn101Asp)
|
rs2145828545
|
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
|
NM_032043.3(BRIP1):c.3022T>A (p.Leu1008Met)
|
rs1165704345
|
|
|
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
|
|
|
|
NM_032043.3(BRIP1):c.3023T>C (p.Leu1008Ser)
|
rs2061323067
|
|
|
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs)
|
rs2144091036
|
|
|
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs)
|
rs2144091008
|
|
|
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)
|
rs587781328
|
|
|
NM_032043.3(BRIP1):c.3025G>C (p.Gly1009Arg)
|
rs587781328
|
|
|
NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu)
|
rs1555572908
|
|
|
NM_032043.3(BRIP1):c.3026G>T (p.Gly1009Val)
|
rs1555572908
|
|
|
NM_032043.3(BRIP1):c.3027A>G (p.Gly1009=)
|
rs786201171
|
|
|
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3031T>C (p.Tyr1011His)
|
rs1567729362
|
|
|
NM_032043.3(BRIP1):c.3039T>A (p.Thr1013=)
|
rs863224803
|
|
|
NM_032043.3(BRIP1):c.3039T>C (p.Thr1013=)
|
rs863224803
|
|
|
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs)
|
rs2144090521
|
|
|
NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)
|
|
|
|
NM_032043.3(BRIP1):c.303C>T (p.Asn101=)
|
rs1425170841
|
|
|
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
|
|
|
|
NM_032043.3(BRIP1):c.3041G>A (p.Gly1014Asp)
|
rs876659757
|
|
|
NM_032043.3(BRIP1):c.3041G>C (p.Gly1014Ala)
|
rs876659757
|
|
|
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg)
|
rs1006002613
|
|
|
NM_032043.3(BRIP1):c.3047T>G (p.Ile1016Arg)
|
rs2061322186
|
|
|
NM_032043.3(BRIP1):c.3048A>G (p.Ile1016Met)
|
|
|
|
NM_032043.3(BRIP1):c.3053A>G (p.Lys1018Arg)
|
rs2061321875
|
|
|
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs)
|
rs2144090014
|
|
|
NM_032043.3(BRIP1):c.3054G>A (p.Lys1018=)
|
|
|
|
NM_032043.3(BRIP1):c.3055G>A (p.Ala1019Thr)
|
rs1603275556
|
|
|
NM_032043.3(BRIP1):c.3056C>T (p.Ala1019Val)
|
rs1555572884
|
|
|
NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)
|
rs1484234707
|
|
|
NM_032043.3(BRIP1):c.305A>T (p.Gln102Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3061C>T (p.Pro1021Ser)
|
rs1555572880
|
|
|
NM_032043.3(BRIP1):c.3063T>C (p.Pro1021=)
|
rs2061321607
|
|
|
NM_032043.3(BRIP1):c.3064G>C (p.Glu1022Gln)
|
rs587782808
|
|
|
NM_032043.3(BRIP1):c.3065A>T (p.Glu1022Val)
|
rs2144089594
|
|
|
NM_032043.3(BRIP1):c.3068T>C (p.Leu1023Pro)
|
rs747345595
|
|
|
NM_032043.3(BRIP1):c.3069C>G (p.Leu1023=)
|
rs61754142
|
|
|
NM_032043.3(BRIP1):c.306A>G (p.Gln102=)
|
|
|
|
NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg)
|
rs147119272
|
|
|
NM_032043.3(BRIP1):c.3072G>A (p.Gly1024=)
|
rs778500245
|
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
|
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)
|
rs1603275526
|
|
|
NM_032043.3(BRIP1):c.3075A>C (p.Ser1025=)
|
rs1060504319
|
|
|
NM_032043.3(BRIP1):c.3075A>G (p.Ser1025=)
|
rs1060504319
|
|
|
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro)
|
rs756712872
|
|
|
NM_032043.3(BRIP1):c.3078A>G (p.Ser1026=)
|
rs786201657
|
|
|
NM_032043.3(BRIP1):c.307G>A (p.Gly103Arg)
|
rs777068696
|
|
|
NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala)
|
rs863224804
|
|
|
NM_032043.3(BRIP1):c.3081G>A (p.Glu1027=)
|
rs777660106
|
|
|
NM_032043.3(BRIP1):c.3082A>G (p.Asn1028Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3083A>C (p.Asn1028Thr)
|
rs1060501762
|
|
|
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser)
|
rs1060501762
|
|
|
NM_032043.3(BRIP1):c.3084T>C (p.Asn1028=)
|
rs1424179519
|
|
|
NM_032043.3(BRIP1):c.3084T>G (p.Asn1028Lys)
|
rs1424179519
|
|
|
NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3087T>C (p.Ser1029=)
|
rs1555572848
|
|
|
NM_032043.3(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup)
|
rs1187782159
|
|
|
NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)
|
rs767255426
|
|
|
NM_032043.3(BRIP1):c.308del (p.Gly103fs)
|
rs1555617834
|
|
|
NM_032043.3(BRIP1):c.3095G>A (p.Ser1032Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser)
|
rs876659119
|
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
|
NM_032043.3(BRIP1):c.3100C>A (p.Pro1034Thr)
|
rs765416041
|
|
|
NM_032043.3(BRIP1):c.3102C>T (p.Pro1034=)
|
rs2144088075
|
|
|
NM_032043.3(BRIP1):c.3104G>C (p.Arg1035Pro)
|
rs367816363
|
|
|
NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala)
|
rs2145828204
|
|
|
NM_032043.3(BRIP1):c.3112A>G (p.Thr1038Ala)
|
rs2061319595
|
|
|
NM_032043.3(BRIP1):c.3113C>G (p.Thr1038Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3113C>T (p.Thr1038Ile)
|
rs2061319540
|
|
|
NM_032043.3(BRIP1):c.3116A>G (p.Glu1039Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3117G>A (p.Glu1039=)
|
rs769310105
|
|
|
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
|
|
|
|
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln)
|
rs876659428
|
|
|
NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu)
|
rs876659428
|
|
|
NM_032043.3(BRIP1):c.3120G>A (p.Lys1040=)
|
rs2144087482
|
|
|
NM_032043.3(BRIP1):c.3121A>G (p.Met1041Val)
|
rs1555572831
|
|
|
NM_032043.3(BRIP1):c.3124G>A (p.Glu1042Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3125A>G (p.Glu1042Gly)
|
rs1555572828
|
|
|
NM_032043.3(BRIP1):c.3126A>G (p.Glu1042=)
|
rs2061319012
|
|
|
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs)
|
rs2061318961
|
|
|
NM_032043.3(BRIP1):c.3128G>A (p.Ser1043Asn)
|
rs1555572825
|
|
|
NM_032043.3(BRIP1):c.312T>C (p.Thr104=)
|
|
|
|
NM_032043.3(BRIP1):c.3134C>G (p.Thr1045Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3135T>C (p.Thr1045=)
|
|
|
|
NM_032043.3(BRIP1):c.3136G>A (p.Val1046Ile)
|
rs1555572824
|
|
|
NM_032043.3(BRIP1):c.3136G>C (p.Val1046Leu)
|
rs1555572824
|
|
|
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
|
|
|
|
NM_032043.3(BRIP1):c.3141G>A (p.Leu1047=)
|
|
|
|
NM_032043.3(BRIP1):c.3143C>T (p.Pro1048Leu)
|
rs896510433
|
|
|
NM_032043.3(BRIP1):c.3148A>G (p.Thr1050Ala)
|
rs1567728933
|
|
|
NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser)
|
|
|
|
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3150T>G (p.Thr1050=)
|
rs1603275447
|
|
|
NM_032043.3(BRIP1):c.3155A>G (p.Lys1052Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3157T>C (p.Cys1053Arg)
|
rs2061318138
|
|
|
NM_032043.3(BRIP1):c.315A>C (p.Ser105=)
|
|
|
|
NM_032043.3(BRIP1):c.315A>T (p.Ser105=)
|
rs1555617827
|
|
|
NM_032043.3(BRIP1):c.3162A>G (p.Glu1054=)
|
rs2144086078
|
|
|
NM_032043.3(BRIP1):c.3163T>A (p.Ser1055Thr)
|
rs2144086036
|
|
|
NM_032043.3(BRIP1):c.3163T>C (p.Ser1055Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3164C>A (p.Ser1055Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.3165C>G (p.Ser1055=)
|
rs1447544706
|
|
|
NM_032043.3(BRIP1):c.3165C>T (p.Ser1055=)
|
rs1447544706
|
|
|
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)
|
rs1603275438
|
|
|
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
|
|
|
|
NM_032043.3(BRIP1):c.3169A>G (p.Asn1057Asp)
|
rs2144085839
|
|
|
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser)
|
rs587780247
|
|
|
NM_032043.3(BRIP1):c.3171T>G (p.Asn1057Lys)
|
rs2061317850
|
|
|
NM_032043.3(BRIP1):c.3172C>G (p.Leu1058Val)
|
rs2061317781
|
|
|
NM_032043.3(BRIP1):c.3173T>G (p.Leu1058Arg)
|
rs2144085714
|
|
|
NM_032043.3(BRIP1):c.3174G>C (p.Leu1058=)
|
rs1555572806
|
|
|
NM_032043.3(BRIP1):c.3174G>T (p.Leu1058=)
|
|
|
|
NM_032043.3(BRIP1):c.3176C>G (p.Thr1059Arg)
|
rs1400975728
|
|
|
NM_032043.3(BRIP1):c.3181A>C (p.Asn1061His)
|
rs778430337
|
|
|
NM_032043.3(BRIP1):c.3181A>G (p.Asn1061Asp)
|
rs778430337
|
|
|
NM_032043.3(BRIP1):c.3183C>T (p.Asn1061=)
|
rs1555572792
|
|
|
NM_032043.3(BRIP1):c.3185C>T (p.Thr1062Ile)
|
rs770517912
|
|
|
NM_032043.3(BRIP1):c.3186A>G (p.Thr1062=)
|
|
|
|
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
|
|
|
|
NM_032043.3(BRIP1):c.3189G>A (p.Ser1063=)
|
rs878855152
|
|
|
NM_032043.3(BRIP1):c.318T>A (p.Arg106=)
|
rs772283705
|
|
|
NM_032043.3(BRIP1):c.318T>C (p.Arg106=)
|
rs772283705
|
|
|
NM_032043.3(BRIP1):c.3192T>G (p.Phe1064Leu)
|
rs2144084979
|
|
|
NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr)
|
rs1199327421
|
|
|
NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)
|
rs1199327421
|
|
|
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg)
|
rs878855153
|
|
|
NM_032043.3(BRIP1):c.319C>T (p.His107Tyr)
|
rs2078907400
|
|
|
NM_032043.3(BRIP1):c.3200G>T (p.Cys1067Phe)
|
rs2144084686
|
|
|
NM_032043.3(BRIP1):c.3201C>T (p.Cys1067=)
|
rs1477019492
|
|
|
NM_032043.3(BRIP1):c.3203C>G (p.Pro1068Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3204T>C (p.Pro1068=)
|
rs2144084552
|
|
|
NM_032043.3(BRIP1):c.3205C>G (p.Gln1069Glu)
|
rs2061316417
|
|
|
NM_032043.3(BRIP1):c.3207A>G (p.Gln1069=)
|
rs1555572778
|
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
|
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)
|
rs777213170
|
|
|
NM_032043.3(BRIP1):c.320A>C (p.His107Pro)
|
rs876659809
|
|
|
NM_032043.3(BRIP1):c.3210A>C (p.Ser1070=)
|
rs1555572773
|
|
|
NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala)
|
rs756074244
|
|
|
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn)
|
rs786204068
|
|
|
NM_032043.3(BRIP1):c.3216C>T (p.Thr1072=)
|
|
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
|
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)
|
rs1603366250
|
|
|
NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr)
|
rs1219988835
|
|
|
NM_032043.3(BRIP1):c.3223T>A (p.Ser1075Thr)
|
rs368867532
|
|
|
NM_032043.3(BRIP1):c.3225A>G (p.Ser1075=)
|
rs1291039468
|
|
|
NM_032043.3(BRIP1):c.3225A>T (p.Ser1075=)
|
rs1291039468
|
|
|
NM_032043.3(BRIP1):c.3227C>T (p.Ser1076Leu)
|
rs864622113
|
|
|
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)
|
rs786202927
|
|
|
NM_032043.3(BRIP1):c.3233A>C (p.Lys1078Thr)
|
rs1603275371
|
|
|
NM_032043.3(BRIP1):c.3234G>T (p.Lys1078Asn)
|
rs570238270
|
|
|
NM_032043.3(BRIP1):c.3238G>C (p.Asp1080His)
|
rs786204230
|
|
|
NM_032043.3(BRIP1):c.3238G>T (p.Asp1080Tyr)
|
rs786204230
|
|
|
NM_032043.3(BRIP1):c.3240T>C (p.Asp1080=)
|
rs1603275354
|
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
|
NM_032043.3(BRIP1):c.3241G>A (p.Ala1081Thr)
|
rs1567728640
|
|
|
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val)
|
rs1555572749
|
|
|
NM_032043.3(BRIP1):c.3245C>A (p.Thr1082Asn)
|
rs1603275338
|
|
|
NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser)
|
rs1603275338
|
|
|
NM_032043.3(BRIP1):c.3246C>A (p.Thr1082=)
|
|
|
|
NM_032043.3(BRIP1):c.3246C>T (p.Thr1082=)
|
rs2144083106
|
|
|
NM_032043.3(BRIP1):c.324C>G (p.Phe108Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3253_3254delinsGT (p.Arg1085Val)
|
rs2061314506
|
|
|
NM_032043.3(BRIP1):c.3254G>C (p.Arg1085Thr)
|
rs1567728589
|
|
|
NM_032043.3(BRIP1):c.3256A>G (p.Lys1086Glu)
|
|
|
|
NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp)
|
rs2078907245
|
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
|
NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys)
|
rs1567728557
|
|
|
NM_032043.3(BRIP1):c.3263A>G (p.His1088Arg)
|
rs2061314121
|
|
|
NM_032043.3(BRIP1):c.3265T>G (p.Ser1089Ala)
|
rs764205156
|
|
|
NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)
|
rs761278503
|
|
|
NM_032043.3(BRIP1):c.3266C>T (p.Ser1089Phe)
|
rs761278503
|
|
|
NM_032043.3(BRIP1):c.3267T>C (p.Ser1089=)
|
rs876658543
|
|
|
NM_032043.3(BRIP1):c.3267T>G (p.Ser1089=)
|
rs876658543
|
|
|
NM_032043.3(BRIP1):c.3270A>G (p.Glu1090=)
|
rs1358278249
|
|
|
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr)
|
rs1555572732
|
|
|
NM_032043.3(BRIP1):c.3274C>A (p.Pro1092Thr)
|
rs768065626
|
|
|
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)
|
rs587780830
|
|
|
NM_032043.3(BRIP1):c.3275C>G (p.Pro1092Arg)
|
rs587780830
|
|
|
NM_032043.3(BRIP1):c.3276G>C (p.Pro1092=)
|
rs375911315
|
|
|
NM_032043.3(BRIP1):c.3276G>T (p.Pro1092=)
|
rs375911315
|
|
|
NM_032043.3(BRIP1):c.3277C>G (p.Leu1093Val)
|
rs876660638
|
|
|
NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe)
|
rs876660638
|
|
|
NM_032043.3(BRIP1):c.3279C>G (p.Leu1093=)
|
rs1555572722
|
|
|
NM_032043.3(BRIP1):c.3279C>T (p.Leu1093=)
|
|
|
|
NM_032043.3(BRIP1):c.327C>T (p.Asn109=)
|
|
|
|
NM_032043.3(BRIP1):c.3283T>C (p.Ser1095Pro)
|
rs2061313248
|
|
|
NM_032043.3(BRIP1):c.3284C>T (p.Ser1095Phe)
|
rs1479296707
|
|
|
NM_032043.3(BRIP1):c.3285T>C (p.Ser1095=)
|
rs774105218
|
|
|
NM_032043.3(BRIP1):c.3287AAG[3] (p.Glu1097dup)
|
rs1603275271
|
|
|
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter)
|
rs770509300
|
|
|
NM_032043.3(BRIP1):c.328T>C (p.Tyr110His)
|
rs1555617821
|
|
|
NM_032043.3(BRIP1):c.3290A>G (p.Glu1097Gly)
|
rs876658746
|
|
|
NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser)
|
rs1034545913
|
|
|
NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp)
|
rs1361161166
|
|
|
NM_032043.3(BRIP1):c.3293C>T (p.Ala1098Val)
|
|
|
|
NM_032043.3(BRIP1):c.3294C>T (p.Ala1098=)
|
rs748928248
|
|
|
NM_032043.3(BRIP1):c.3295C>T (p.Leu1099=)
|
|
|
|
NM_032043.3(BRIP1):c.3298G>C (p.Asp1100His)
|
rs587781923
|
|
|
NM_032043.3(BRIP1):c.3298G>T (p.Asp1100Tyr)
|
rs587781923
|
|
|
NM_032043.3(BRIP1):c.3299A>T (p.Asp1100Val)
|
rs864622072
|
|
|
NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu)
|
rs2061312470
|
|
|
NM_032043.3(BRIP1):c.3305A>G (p.Asp1102Gly)
|
rs748140041
|
|
|
NM_032043.3(BRIP1):c.3307A>G (p.Ile1103Val)
|
rs1555572700
|
|
|
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter)
|
rs1555572698
|
|
|
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val)
|
rs1567728360
|
|
|
NM_032043.3(BRIP1):c.3312A>G (p.Glu1104=)
|
rs1555572697
|
|
|
NM_032043.3(BRIP1):c.3312A>T (p.Glu1104Asp)
|
rs1555572697
|
|
|
NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)
|
rs1603275236
|
|
|
NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3321A>G (p.Leu1107=)
|
rs1603275229
|
|
|
NM_032043.3(BRIP1):c.3322G>A (p.Val1108Ile)
|
rs1275343223
|
|
|
NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3324A>T (p.Val1108=)
|
|
|
|
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys)
|
rs1060501774
|
|
|
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)
|
rs1060501774
|
|
|
NM_032043.3(BRIP1):c.3329A>G (p.Glu1110Gly)
|
rs1060501742
|
|
|
NM_032043.3(BRIP1):c.332C>T (p.Pro111Leu)
|
rs201790351
|
|
|
NM_032043.3(BRIP1):c.3330A>G (p.Glu1110=)
|
rs2061311198
|
|
|
NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys)
|
rs587780248
|
|
|
NM_032043.3(BRIP1):c.3332A>T (p.Glu1111Val)
|
rs2061311057
|
|
|
NM_032043.3(BRIP1):c.3334G>A (p.Asp1112Asn)
|
rs968860042
|
|
|
NM_032043.3(BRIP1):c.3336T>A (p.Asp1112Glu)
|
rs369843642
|
|
|
NM_032043.3(BRIP1):c.3337A>C (p.Lys1113Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)
|
rs2061310712
|
|
|
NM_032043.3(BRIP1):c.333A>C (p.Pro111=)
|
|
|
|
NM_032043.3(BRIP1):c.3340C>G (p.Gln1114Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter)
|
rs1555572681
|
|
|
NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His)
|
rs2144079516
|
|
|
NM_032043.3(BRIP1):c.3343T>A (p.Ser1115Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3343T>C (p.Ser1115Pro)
|
rs1567728281
|
|
|
NM_032043.3(BRIP1):c.3344C>A (p.Ser1115Tyr)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3344C>T (p.Ser1115Phe)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3345C>A (p.Ser1115=)
|
rs2144079396
|
|
|
NM_032043.3(BRIP1):c.3345C>T (p.Ser1115=)
|
rs2144079396
|
|
|
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
|
|
|
|
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu)
|
rs1555572672
|
|
|
NM_032043.3(BRIP1):c.3351A>G (p.Ser1117=)
|
rs2144079200
|
|
|
NM_032043.3(BRIP1):c.3352A>G (p.Asn1118Asp)
|
rs2061310251
|
|
|
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)
|
rs1060501773
|
|
|
NM_032043.3(BRIP1):c.3356G>C (p.Arg1119Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3357A>G (p.Arg1119=)
|
|
|
|
NM_032043.3(BRIP1):c.3358G>A (p.Asp1120Asn)
|
rs1555572663
|
|
|
NM_032043.3(BRIP1):c.3358G>C (p.Asp1120His)
|
|
|
|
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs)
|
rs1603275179
|
|
|
NM_032043.3(BRIP1):c.335G>A (p.Ser112Asn)
|
rs1555617813
|
|
|
NM_032043.3(BRIP1):c.3360T>C (p.Asp1120=)
|
rs876660747
|
|
|
NM_032043.3(BRIP1):c.3364G>C (p.Glu1122Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3365A>G (p.Glu1122Gly)
|
rs2144078743
|
|
|
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala)
|
rs754056526
|
|
|
NM_032043.3(BRIP1):c.3368C>G (p.Thr1123Arg)
|
|
|
|
NM_032043.3(BRIP1):c.336C>T (p.Ser112=)
|
rs1603366251
|
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
|
NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly)
|
rs1064793894
|
|
|
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)
|
rs745344948
|
|
|
NM_032043.3(BRIP1):c.3378A>G (p.Glu1126=)
|
rs145855459
|
|
|
NM_032043.3(BRIP1):c.3378A>T (p.Glu1126Asp)
|
rs145855459
|
|
|
NM_032043.3(BRIP1):c.3379G>C (p.Asp1127His)
|
rs2144078261
|
|
|
NM_032043.3(BRIP1):c.337A>C (p.Thr113Pro)
|
rs1555617812
|
|
|
NM_032043.3(BRIP1):c.3382G>A (p.Glu1128Lys)
|
rs45552539
|
|
|
NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln)
|
rs45552539
|
|
|
NM_032043.3(BRIP1):c.3384A>G (p.Glu1128=)
|
rs868546317
|
|
|
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs)
|
rs2144077998
|
|
|
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs)
|
rs2061309076
|
|
|
NM_032043.3(BRIP1):c.3388A>T (p.Ile1130Phe)
|
rs786202549
|
|
|
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)
|
rs1057522432
|
|
|
NM_032043.3(BRIP1):c.3390C>G (p.Ile1130Met)
|
rs2061308845
|
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
|
NM_032043.3(BRIP1):c.3392A>G (p.Tyr1131Cys)
|
rs1567728145
|
|
|
NM_032043.3(BRIP1):c.3393T>C (p.Tyr1131=)
|
|
|
|
NM_032043.3(BRIP1):c.3396T>C (p.Phe1132=)
|
rs876659137
|
|
|
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
|
|
|
|
NM_032043.3(BRIP1):c.3397A>T (p.Thr1133Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile)
|
rs1555572645
|
|
|
NM_032043.3(BRIP1):c.339A>C (p.Thr113=)
|
rs2078906632
|
|
|
NM_032043.3(BRIP1):c.339A>G (p.Thr113=)
|
rs2078906632
|
|
|
NM_032043.3(BRIP1):c.33T>C (p.Gly11=)
|
rs759187663
|
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
|
NM_032043.3(BRIP1):c.3402T>G (p.Pro1134=)
|
rs2061308538
|
|
|
NM_032043.3(BRIP1):c.3404A>G (p.Glu1135Gly)
|
rs1235908208
|
|
|
NM_032043.3(BRIP1):c.3404_3405insCAG (p.Glu1135delinsAspArg)
|
rs1603275121
|
|
|
NM_032043.3(BRIP1):c.3405A>G (p.Glu1135=)
|
rs2144077304
|
|
|
NM_032043.3(BRIP1):c.3406C>T (p.Leu1136Phe)
|
rs1555572626
|
|
|
NM_032043.3(BRIP1):c.3407T>G (p.Leu1136Arg)
|
rs2061308258
|
|
|
NM_032043.3(BRIP1):c.3409T>C (p.Tyr1137His)
|
rs2061308195
|
|
|
NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser)
|
rs2145827137
|
|
|
NM_032043.3(BRIP1):c.3410_3411delinsGC (p.Tyr1137Cys)
|
|
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCC (p.Asp1138His)
|
rs1555572620
|
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)
|
rs1555572620
|
|
|
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
|
|
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)
|
rs587780249
|
|
|
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)
|
rs1057518847
|
|
|
NM_032043.3(BRIP1):c.3415C>T (p.Pro1139Ser)
|
rs1186451404
|
|
|
NM_032043.3(BRIP1):c.3416C>T (p.Pro1139Leu)
|
rs1555572613
|
|
|
NM_032043.3(BRIP1):c.341C>A (p.Pro114Gln)
|
rs876658965
|
|
|
NM_032043.3(BRIP1):c.341C>T (p.Pro114Leu)
|
rs876658965
|
|
|
NM_032043.3(BRIP1):c.3420dup (p.Asp1141fs)
|
|
|
|
NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala)
|
rs1034551306
|
|
|
NM_032043.3(BRIP1):c.3422A>T (p.Asp1141Val)
|
rs1034551306
|
|
|
NM_032043.3(BRIP1):c.3423T>C (p.Asp1141=)
|
rs2144076602
|
|
|
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg)
|
rs1279318199
|
|
|
NM_032043.3(BRIP1):c.3426A>G (p.Thr1142=)
|
|
|
|
NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn)
|
rs1217932471
|
|
|
NM_032043.3(BRIP1):c.3428A>G (p.Asp1143Gly)
|
rs2061307264
|
|
|
NM_032043.3(BRIP1):c.3429T>C (p.Asp1143=)
|
rs1315917374
|
|
|
NM_032043.3(BRIP1):c.3429T>G (p.Asp1143Glu)
|
rs1315917374
|
|
|
NM_032043.3(BRIP1):c.342A>G (p.Pro114=)
|
rs756764576
|
|
|
NM_032043.3(BRIP1):c.3430G>A (p.Glu1144Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3430G>C (p.Glu1144Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
|
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)
|
rs786202247
|
|
|
NM_032043.3(BRIP1):c.3437A>G (p.Lys1146Arg)
|
rs1567727955
|
|
|
NM_032043.3(BRIP1):c.3437A>T (p.Lys1146Ile)
|
rs1567727955
|
|
|
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp)
|
rs1258403817
|
|
|
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser)
|
rs876659142
|
|
|
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
|
|
|
NM_032043.3(BRIP1):c.3441T>C (p.Asn1147=)
|
|
|
|
NM_032043.3(BRIP1):c.3443A>G (p.Asp1148Gly)
|
rs2061306531
|
|
|
NM_032043.3(BRIP1):c.3444C>T (p.Asp1148=)
|
rs28997573
|
|
|
NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly)
|
rs1064796059
|
|
|
NM_032043.3(BRIP1):c.3449C>T (p.Ala1150Val)
|
|
|
|
NM_032043.3(BRIP1):c.344C>A (p.Pro115His)
|
rs1555617800
|
|
|
NM_032043.3(BRIP1):c.344C>T (p.Pro115Leu)
|
rs1555617800
|
|
|
NM_032043.3(BRIP1):c.3451G>A (p.Glu1151Lys)
|
rs1555572587
|
|
|
NM_032043.3(BRIP1):c.3455_3467del (p.Thr1152fs)
|
|
|
|
NM_032043.3(BRIP1):c.3458A>G (p.Asp1153Gly)
|
rs1603275027
|
|
|
NM_032043.3(BRIP1):c.3461G>A (p.Arg1154Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)
|
rs1057522433
|
|
|
NM_032043.3(BRIP1):c.3466A>G (p.Asn1156Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3467A>G (p.Asn1156Ser)
|
rs1603275008
|
|
|
NM_032043.3(BRIP1):c.3472T>A (p.Leu1158Met)
|
rs1060504330
|
|
|
NM_032043.3(BRIP1):c.3472T>C (p.Leu1158=)
|
rs1060504330
|
|
|
NM_032043.3(BRIP1):c.3473T>G (p.Leu1158Trp)
|
rs876659655
|
|
|
NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3475G>C (p.Ala1159Pro)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3475G>T (p.Ala1159Ser)
|
rs368610199
|
|
|
NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp)
|
rs2061305104
|
|
|
NM_032043.3(BRIP1):c.347C>T (p.Ser116Phe)
|
rs748793974
|
|
|
NM_032043.3(BRIP1):c.3480C>T (p.Asn1160=)
|
rs746898528
|
|
|
NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup)
|
rs2061304922
|
|
|
NM_032043.3(BRIP1):c.3488A>G (p.Asp1163Gly)
|
rs2061304985
|
|
|
NM_032043.3(BRIP1):c.3489_3490delinsCG (p.Cys1164Gly)
|
rs2061304770
|
|
|
NM_032043.3(BRIP1):c.3493A>T (p.Ile1165Phe)
|
rs771889454
|
|
|
NM_032043.3(BRIP1):c.3496T>G (p.Leu1166Val)
|
rs2144073872
|
|
|
NM_032043.3(BRIP1):c.3497T>C (p.Leu1166Ser)
|
rs2061304526
|
|
|
NM_032043.3(BRIP1):c.3498A>G (p.Leu1166=)
|
rs1196759903
|
|
|
NM_032043.3(BRIP1):c.3499G>C (p.Ala1167Pro)
|
rs1555572570
|
|
|
NM_032043.3(BRIP1):c.34G>A (p.Gly12Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr)
|
rs749589266
|
|
|
NM_032043.3(BRIP1):c.3504A>G (p.Lys1168=)
|
rs1259866317
|
|
|
NM_032043.3(BRIP1):c.3504del (p.Asp1169fs)
|
|
|
|
NM_032043.3(BRIP1):c.3506A>C (p.Asp1169Ala)
|
rs2061304201
|
|
|
NM_032043.3(BRIP1):c.3507C>G (p.Asp1169Glu)
|
rs375741316
|
|
|
NM_032043.3(BRIP1):c.3507C>T (p.Asp1169=)
|
|
|
|
NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val)
|
rs587782552
|
|
|
NM_032043.3(BRIP1):c.3508del (p.Leu1170fs)
|
rs2144073489
|
|
|
NM_032043.3(BRIP1):c.3509T>A (p.Leu1170His)
|
|
|
|
NM_032043.3(BRIP1):c.3512T>C (p.Phe1171Ser)
|
rs878855155
|
|
|
NM_032043.3(BRIP1):c.3513del (p.Phe1171fs)
|
|
|
|
NM_032043.3(BRIP1):c.3517A>C (p.Ile1173Leu)
|
rs2061303840
|
|
|
NM_032043.3(BRIP1):c.3520A>G (p.Arg1174Gly)
|
rs2144073209
|
|
|
NM_032043.3(BRIP1):c.3521G>A (p.Arg1174Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3522A>G (p.Arg1174=)
|
rs2144073145
|
|
|
NM_032043.3(BRIP1):c.3526A>G (p.Ile1176Val)
|
rs2061303537
|
|
|
NM_032043.3(BRIP1):c.3528A>C (p.Ile1176=)
|
|
|
|
NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)
|
|
|
|
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
|
|
|
|
NM_032043.3(BRIP1):c.3530A>G (p.Lys1177Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3530AAG[1] (p.Glu1178del)
|
rs1567727749
|
|
|
NM_032043.3(BRIP1):c.3531A>G (p.Lys1177=)
|
rs181186298
|
|
|
NM_032043.3(BRIP1):c.3532G>A (p.Glu1178Lys)
|
rs876661115
|
|
|
NM_032043.3(BRIP1):c.3532G>C (p.Glu1178Gln)
|
rs876661115
|
|
|
NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3535G>A (p.Val1179Ile)
|
|
|
|
NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3536_3538del (p.Val1179del)
|
rs1603274921
|
|
|
NM_032043.3(BRIP1):c.3537A>C (p.Val1179=)
|
|
|
|
NM_032043.3(BRIP1):c.3538G>C (p.Asp1180His)
|
rs2061303001
|
|
|
NM_032043.3(BRIP1):c.3543A>G (p.Ser1181=)
|
rs1060504328
|
|
|
NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr)
|
rs1555572535
|
|
|
NM_032043.3(BRIP1):c.3546C>A (p.Ala1182=)
|
rs755440956
|
|
|
NM_032043.3(BRIP1):c.3551A>G (p.Glu1184Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3552A>G (p.Glu1184=)
|
rs1057522561
|
|
|
NM_032043.3(BRIP1):c.3553G>C (p.Val1185Leu)
|
rs1567727691
|
|
|
NM_032043.3(BRIP1):c.3553G>T (p.Val1185Leu)
|
rs1567727691
|
|
|
NM_032043.3(BRIP1):c.3555G>A (p.Val1185=)
|
|
|
|
NM_032043.3(BRIP1):c.3557A>G (p.Lys1186Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3558A>G (p.Lys1186=)
|
rs1555572529
|
|
|
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs)
|
rs2145826463
|
|
|
NM_032043.3(BRIP1):c.3560C>T (p.Ala1187Val)
|
rs1603274878
|
|
|
NM_032043.3(BRIP1):c.3561T>G (p.Ala1187=)
|
rs2144071810
|
|
|
NM_032043.3(BRIP1):c.3562G>A (p.Glu1188Lys)
|
rs786201962
|
|
|
NM_032043.3(BRIP1):c.3563A>G (p.Glu1188Gly)
|
rs2061301893
|
|
|
NM_032043.3(BRIP1):c.3564G>A (p.Glu1188=)
|
|
|
|
NM_032043.3(BRIP1):c.3565G>A (p.Asp1189Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3569G>C (p.Cys1190Ser)
|
rs2061301683
|
|
|
NM_032043.3(BRIP1):c.3569_3570delinsCT (p.Cys1190Ser)
|
|
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
|
|
NM_032043.3(BRIP1):c.356del (p.Asn119fs)
|
rs2145826750
|
|
|
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)
|
rs2061301543
|
|
|
NM_032043.3(BRIP1):c.3575A>G (p.Asp1192Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3578C>A (p.Thr1193Lys)
|
rs1368343911
|
|
|
NM_032043.3(BRIP1):c.3578C>G (p.Thr1193Arg)
|
rs1368343911
|
|
|
NM_032043.3(BRIP1):c.3579A>G (p.Thr1193=)
|
rs1060504331
|
|
|
NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys)
|
rs786202477
|
|
|
NM_032043.3(BRIP1):c.3581A>T (p.Lys1194Met)
|
rs2144071092
|
|
|
NM_032043.3(BRIP1):c.3584_3586delinsGG (p.Leu1195fs)
|
rs1555572519
|
|
|
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=)
|
rs2061301182
|
|
|
NM_032043.3(BRIP1):c.3588T>C (p.Asn1196=)
|
rs1555572517
|
|
|
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs)
|
rs1567874485
|
|
|
NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu)
|
rs587781677
|
|
|
NM_032043.3(BRIP1):c.3592A>T (p.Ile1198Phe)
|
rs2061300867
|
|
|
NM_032043.3(BRIP1):c.3594T>G (p.Ile1198Met)
|
rs1603274842
|
|
|
NM_032043.3(BRIP1):c.3595C>G (p.Leu1199Val)
|
rs876659839
|
|
|
NM_032043.3(BRIP1):c.3595C>T (p.Leu1199=)
|
rs876659839
|
|
|
NM_032043.3(BRIP1):c.3597_3598delinsCA (p.His1200Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3599A>G (p.His1200Arg)
|
rs730881628
|
|
|
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp)
|
rs730881637
|
|
|
NM_032043.3(BRIP1):c.359G>T (p.Gly120Val)
|
|
|
|
NM_032043.3(BRIP1):c.35G>C (p.Gly12Ala)
|
rs1555618733
|
|
|
NM_032043.3(BRIP1):c.3600T>C (p.His1200=)
|
|
|
|
NM_032043.3(BRIP1):c.3601A>G (p.Ile1201Val)
|
|
|
|
NM_032043.3(BRIP1):c.3602T>C (p.Ile1201Thr)
|
rs2061300384
|
|
|
NM_032043.3(BRIP1):c.3603T>C (p.Ile1201=)
|
rs1239998940
|
|
|
NM_032043.3(BRIP1):c.3605A>C (p.Glu1202Ala)
|
rs776010326
|
|
|
NM_032043.3(BRIP1):c.3607del (p.Glu1203fs)
|
rs2144070111
|
|
|
NM_032043.3(BRIP1):c.3608A>G (p.Glu1203Gly)
|
rs1403310555
|
|
|
NM_032043.3(BRIP1):c.360C>T (p.Gly120=)
|
rs1060501730
|
|
|
NM_032043.3(BRIP1):c.3613A>G (p.Lys1205Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3615A>C (p.Lys1205Asn)
|
rs768156067
|
|
|
NM_032043.3(BRIP1):c.3616A>G (p.Ile1206Val)
|
|
|
|
NM_032043.3(BRIP1):c.3617T>C (p.Ile1206Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3618T>C (p.Ile1206=)
|
|
|
|
NM_032043.3(BRIP1):c.3618T>G (p.Ile1206Met)
|
rs2061299577
|
|
|
NM_032043.3(BRIP1):c.3619G>A (p.Asp1207Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3622G>A (p.Asp1208Asn)
|
rs760589795
|
|
|
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His)
|
rs760589795
|
|
|
NM_032043.3(BRIP1):c.3624C>T (p.Asp1208=)
|
rs2144069601
|
|
|
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val)
|
rs1603274780
|
|
|
NM_032043.3(BRIP1):c.3627T>A (p.Ile1209=)
|
rs548674096
|
|
|
NM_032043.3(BRIP1):c.3629A>G (p.Asp1210Gly)
|
rs112214651
|
|
|
NM_032043.3(BRIP1):c.3629_3631del (p.Asp1210del)
|
rs1064794200
|
|
|
NM_032043.3(BRIP1):c.362C>T (p.Thr121Ile)
|
rs777630298
|
|
|
NM_032043.3(BRIP1):c.3630T>C (p.Asp1210=)
|
rs2144069414
|
|
|
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)
|
rs1567727439
|
|
|
NM_032043.3(BRIP1):c.3632del (p.Gly1211fs)
|
rs2144069324
|
|
|
NM_032043.3(BRIP1):c.3634A>G (p.Asn1212Asp)
|
rs2144069259
|
|
|
NM_032043.3(BRIP1):c.3637G>A (p.Val1213Ile)
|
|
|
|
NM_032043.3(BRIP1):c.3639A>G (p.Val1213=)
|
rs2144069102
|
|
|
NM_032043.3(BRIP1):c.363T>A (p.Thr121=)
|
rs876660306
|
|
|
NM_032043.3(BRIP1):c.363T>C (p.Thr121=)
|
rs876660306
|
|
|
NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3642A>C (p.Lys1214Asn)
|
rs2061298986
|
|
|
NM_032043.3(BRIP1):c.3647C>T (p.Thr1216Ile)
|
rs1567727417
|
|
|
NM_032043.3(BRIP1):c.364T>G (p.Ser122Ala)
|
rs1555617788
|
|
|
NM_032043.3(BRIP1):c.3650G>T (p.Trp1217Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
|
NM_032043.3(BRIP1):c.3655A>C (p.Asn1219His)
|
rs1567727404
|
|
|
NM_032043.3(BRIP1):c.3656del (p.Asn1219fs)
|
rs2061298543
|
|
|
NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys)
|
rs1555572476
|
|
|
NM_032043.3(BRIP1):c.3658G>T (p.Glu1220Ter)
|
rs1555572476
|
|
|
NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly)
|
rs2061298409
|
|
|
NM_032043.3(BRIP1):c.3660A>C (p.Glu1220Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3660A>G (p.Glu1220=)
|
rs2144068349
|
|
|
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)
|
rs2061298344
|
|
|
NM_032043.3(BRIP1):c.3661C>T (p.Leu1221=)
|
rs2061298344
|
|
|
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)
|
rs778805688
|
|
|
NM_032043.3(BRIP1):c.3664G>C (p.Glu1222Gln)
|
rs2144068196
|
|
|
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)
|
rs752586524
|
|
|
NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val)
|
rs770175142
|
|
|
NM_032043.3(BRIP1):c.3667C>T (p.Leu1223=)
|
rs748310432
|
|
|
NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs)
|
rs2061297923
|
|
|
NM_032043.3(BRIP1):c.3669G>A (p.Leu1223=)
|
rs1567727357
|
|
|
NM_032043.3(BRIP1):c.366A>G (p.Ser122=)
|
rs1603366194
|
|
|
NM_032043.3(BRIP1):c.366A>T (p.Ser122=)
|
rs1603366194
|
|
|
NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr)
|
rs2144067914
|
|
|
NM_032043.3(BRIP1):c.3675A>G (p.Lys1225=)
|
|
|
|
NM_032043.3(BRIP1):c.3676del (p.Thr1226fs)
|
rs2144067889
|
|
|
NM_032043.3(BRIP1):c.3679C>G (p.His1227Asp)
|
rs2061297833
|
|
|
NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg)
|
rs755069935
|
|
|
NM_032043.3(BRIP1):c.3680A>T (p.His1227Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3685A>C (p.Ile1229Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)
|
rs1157058742
|
|
|
NM_032043.3(BRIP1):c.3690A>G (p.Glu1230=)
|
|
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
|
NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr)
|
rs780578438
|
|
|
NM_032043.3(BRIP1):c.3692T>G (p.Ile1231Arg)
|
rs780578438
|
|
|
NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3695A>G (p.Lys1232Arg)
|
rs1555572446
|
|
|
NM_032043.3(BRIP1):c.3696G>A (p.Lys1232=)
|
rs2061297235
|
|
|
NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3699C>T (p.Asn1233=)
|
|
|
|
NM_032043.3(BRIP1):c.36G>C (p.Gly12=)
|
rs45566938
|
|
|
NM_032043.3(BRIP1):c.3700T>C (p.Phe1234Leu)
|
rs878855156
|
|
|
NM_032043.3(BRIP1):c.3701T>C (p.Phe1234Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)
|
rs587778137
|
|
|
NM_032043.3(BRIP1):c.3702T>C (p.Phe1234=)
|
|
|
|
NM_032043.3(BRIP1):c.3702T>G (p.Phe1234Leu)
|
rs2061296981
|
|
|
NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu)
|
rs1567727245
|
|
|
NM_032043.3(BRIP1):c.3705A>G (p.Lys1235=)
|
|
|
|
NM_032043.3(BRIP1):c.3706C>T (p.Pro1236Ser)
|
rs1060501771
|
|
|
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu)
|
rs1265133595
|
|
|
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr)
|
rs587781819
|
|
|
NM_032043.3(BRIP1):c.3710C>T (p.Ser1237Phe)
|
rs587781819
|
|
|
NM_032043.3(BRIP1):c.3711T>C (p.Ser1237=)
|
rs786203915
|
|
|
NM_032043.3(BRIP1):c.3712C>A (p.Pro1238Thr)
|
rs1192747697
|
|
|
NM_032043.3(BRIP1):c.3712_3714del (p.Pro1238del)
|
rs1603274664
|
|
|
NM_032043.3(BRIP1):c.3715T>C (p.Ser1239Pro)
|
rs587781886
|
|
|
NM_032043.3(BRIP1):c.3717C>A (p.Ser1239=)
|
rs758809865
|
|
|
NM_032043.3(BRIP1):c.3717C>G (p.Ser1239=)
|
|
|
|
NM_032043.3(BRIP1):c.371C>A (p.Thr124Asn)
|
rs2145826085
|
|
|
NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs)
|
rs1491231712
|
|
|
NM_032043.3(BRIP1):c.3728G>A (p.Gly1243Asp)
|
rs765545033
|
|
|
NM_032043.3(BRIP1):c.3728G>C (p.Gly1243Ala)
|
|
|
|
NM_032043.3(BRIP1):c.3728G>T (p.Gly1243Val)
|
rs765545033
|
|
|
NM_032043.3(BRIP1):c.372T>C (p.Thr124=)
|
rs1555617785
|
|
|
NM_032043.3(BRIP1):c.3730A>C (p.Met1244Leu)
|
rs761468878
|
|
|
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys)
|
rs1260819959
|
|
|
NM_032043.3(BRIP1):c.3731_*5del (p.Met1244fs)
|
rs1555572407
|
|
|
NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile)
|
rs753516000
|
|
|
NM_032043.3(BRIP1):c.3734T>G (p.Phe1245Cys)
|
|
|
|
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)
|
rs876660074
|
|
|
NM_032043.3(BRIP1):c.3740G>A (p.Gly1247Asp)
|
rs2144065748
|
|
|
NM_032043.3(BRIP1):c.3741T>A (p.Gly1247=)
|
rs1555572413
|
|
|
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu)
|
rs1567727102
|
|
|
NM_032043.3(BRIP1):c.3744del (p.Phe1248fs)
|
rs2061295225
|
|
|
NM_032043.3(BRIP1):c.3747G>A (p.Lys1249=)
|
rs1264149264
|
|
|
NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs)
|
rs1555572410
|
|
|
NM_032043.3(BRIP1):c.374G>C (p.Cys125Ser)
|
rs876660020
|
|
|
NM_032043.3(BRIP1):c.374G>T (p.Cys125Phe)
|
rs876660020
|
|
|
NM_032043.3(BRIP1):c.3750A>G (p.Ter1250=)
|
|
|
|
NM_032043.3(BRIP1):c.375T>C (p.Cys125=)
|
|
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
|
NM_032043.3(BRIP1):c.378A>G (p.Gln126=)
|
rs2145825894
|
|
|
NM_032043.3(BRIP1):c.379+10A>G
|
|
|
|
NM_032043.3(BRIP1):c.379+17C>T
|
rs1567874393
|
|
|
NM_032043.3(BRIP1):c.379+19G>C
|
rs2145825488
|
|
|
NM_032043.3(BRIP1):c.379+1G>A
|
rs1437158047
|
|
|
NM_032043.3(BRIP1):c.379+1G>T
|
rs1437158047
|
|
|
NM_032043.3(BRIP1):c.379+2T>C
|
rs2145825816
|
|
|
NM_032043.3(BRIP1):c.379+5T>A
|
rs1603366174
|
|
|
NM_032043.3(BRIP1):c.379+6T>A
|
|
|
|
NM_032043.3(BRIP1):c.379+7T>C
|
|
|
|
NM_032043.3(BRIP1):c.379+8A>C
|
rs1057520254
|
|
|
NM_032043.3(BRIP1):c.379+8A>G
|
rs1057520254
|
|
|
NM_032043.3(BRIP1):c.379+9T>C
|
|
|
|
NM_032043.3(BRIP1):c.37G>A (p.Val13Met)
|
rs1488264110
|
|
|
NM_032043.3(BRIP1):c.37G>T (p.Val13Leu)
|
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
|
NM_032043.3(BRIP1):c.380-12T>C
|
rs2145767396
|
|
|
NM_032043.3(BRIP1):c.380-13T>C
|
|
|
|
NM_032043.3(BRIP1):c.380-14A>G
|
|
|
|
NM_032043.3(BRIP1):c.380-16A>T
|
rs769150213
|
|
|
NM_032043.3(BRIP1):c.380-17del
|
rs545021924
|
|
|
NM_032043.3(BRIP1):c.380-17dup
|
rs545021924
|
|
|
NM_032043.3(BRIP1):c.380-18T>A
|
|
|
|
NM_032043.3(BRIP1):c.380-1G>C
|
rs2145767071
|
|
|
NM_032043.3(BRIP1):c.380-4T>C
|
rs1416727235
|
|
|
NM_032043.3(BRIP1):c.380-6T>C
|
rs780921390
|
|
|
NM_032043.3(BRIP1):c.383C>T (p.Ser128Phe)
|
rs1603362723
|
|
|
NM_032043.3(BRIP1):c.384C>T (p.Ser128=)
|
rs1555616231
|
|
|
NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser)
|
rs1555616229
|
|
|
NM_032043.3(BRIP1):c.386C>A (p.Pro129His)
|
rs587780831
|
|
|
NM_032043.3(BRIP1):c.386C>G (p.Pro129Arg)
|
rs587780831
|
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
|
NM_032043.3(BRIP1):c.387T>C (p.Pro129=)
|
rs779324498
|
|
|
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys)
|
rs876658860
|
|
|
NM_032043.3(BRIP1):c.392A>G (p.Lys131Arg)
|
rs2078781626
|
|
|
NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn)
|
rs2078781577
|
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
|
NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)
|
|
|
|
NM_032043.3(BRIP1):c.396C>G (p.Thr132=)
|
|
|
|
NM_032043.3(BRIP1):c.396_398dup (p.Thr133_Leu134insThr)
|
|
|
|
NM_032043.3(BRIP1):c.397A>G (p.Thr133Ala)
|
rs764256720
|
|
|
NM_032043.3(BRIP1):c.398C>G (p.Thr133Ser)
|
|
|
|
NM_032043.3(BRIP1):c.39G>A (p.Val13=)
|
rs2078972813
|
|
|
NM_032043.3(BRIP1):c.401T>C (p.Leu134Pro)
|
|
|
|
NM_032043.3(BRIP1):c.403G>T (p.Ala135Ser)
|
|
|
|
NM_032043.3(BRIP1):c.404C>G (p.Ala135Gly)
|
|
|
|
NM_032043.3(BRIP1):c.404C>T (p.Ala135Val)
|
rs1295736478
|
|
|
NM_032043.3(BRIP1):c.407C>A (p.Ala136Glu)
|
|
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
|
NM_032043.3(BRIP1):c.408A>G (p.Ala136=)
|
rs876660891
|
|
|
NM_032043.3(BRIP1):c.408A>T (p.Ala136=)
|
|
|
|
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu)
|
rs878855157
|
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
|
NM_032043.3(BRIP1):c.40A>G (p.Lys14Glu)
|
rs1555618727
|
|
|
NM_032043.3(BRIP1):c.415T>C (p.Ser139Pro)
|
|
|
|
NM_032043.3(BRIP1):c.416C>T (p.Ser139Phe)
|
rs1567868653
|
|
|
NM_032043.3(BRIP1):c.418G>A (p.Ala140Thr)
|
rs2078780535
|
|
|
NM_032043.3(BRIP1):c.420T>C (p.Ala140=)
|
rs1555616190
|
|
|
NM_032043.3(BRIP1):c.420T>G (p.Ala140=)
|
rs1555616190
|
|
|
NM_032043.3(BRIP1):c.423G>C (p.Lys141Asn)
|
rs1603362663
|
|
|
NM_032043.3(BRIP1):c.427_428delinsGG (p.Gln143Gly)
|
|
|
|
NM_032043.3(BRIP1):c.428A>C (p.Gln143Pro)
|
rs1603362656
|
|
|
NM_032043.3(BRIP1):c.428A>G (p.Gln143Arg)
|
rs1603362656
|
|
|
NM_032043.3(BRIP1):c.428A>T (p.Gln143Leu)
|
|
|
|
NM_032043.3(BRIP1):c.42G>A (p.Lys14=)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.42G>C (p.Lys14Asn)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.42G>T (p.Lys14Asn)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.430G>T (p.Ala144Ser)
|
|
|
|
NM_032043.3(BRIP1):c.431C>A (p.Ala144Glu)
|
rs1555616182
|
|
|
NM_032043.3(BRIP1):c.432A>G (p.Ala144=)
|
|
|
|
NM_032043.3(BRIP1):c.432A>T (p.Ala144=)
|
rs1342776835
|
|
|
NM_032043.3(BRIP1):c.435C>T (p.Ser145=)
|
|
|
|
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)
|
rs1567868598
|
|
|
NM_032043.3(BRIP1):c.438A>C (p.Ile146=)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.438A>G (p.Ile146Met)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.438A>T (p.Ile146=)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His)
|
rs1567868580
|
|
|
NM_032043.3(BRIP1):c.43A>G (p.Ile15Val)
|
rs1567878177
|
|
|
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.442A>C (p.Arg148=)
|
rs876658914
|
|
|
NM_032043.3(BRIP1):c.443G>A (p.Arg148Lys)
|
rs1243511600
|
|
|
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs)
|
rs2145763904
|
|
|
NM_032043.3(BRIP1):c.445G>A (p.Asp149Asn)
|
|
|
|
NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly)
|
rs770613242
|
|
|
NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)
|
|
|
|
NM_032043.3(BRIP1):c.447T>C (p.Asp149=)
|
|
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
|
NM_032043.3(BRIP1):c.452A>G (p.Asn151Ser)
|
rs1555616165
|
|
|
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
|
|
|
|
NM_032043.3(BRIP1):c.454G>C (p.Asp152His)
|
|
|
|
NM_032043.3(BRIP1):c.455A>G (p.Asp152Gly)
|
rs2145763474
|
|
|
NM_032043.3(BRIP1):c.459T>C (p.Asp153=)
|
rs1603362599
|
|
|
NM_032043.3(BRIP1):c.460T>A (p.Phe154Ile)
|
|
|
|
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs)
|
rs1567868477
|
|
|
NM_032043.3(BRIP1):c.462T>C (p.Phe154=)
|
rs1555616156
|
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
|
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu)
|
rs587781786
|
|
|
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.465A>G (p.Gln155=)
|
rs876659453
|
|
|
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu)
|
rs876659373
|
|
|
NM_032043.3(BRIP1):c.467T>C (p.Val156Ala)
|
rs1567868429
|
|
|
NM_032043.3(BRIP1):c.468A>G (p.Val156=)
|
rs876660148
|
|
|
NM_032043.3(BRIP1):c.469G>A (p.Glu157Lys)
|
rs2078778379
|
|
|
NM_032043.3(BRIP1):c.469G>C (p.Glu157Gln)
|
rs2078778379
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
|
NM_032043.3(BRIP1):c.471G>A (p.Glu157=)
|
rs2078778336
|
|
|
NM_032043.3(BRIP1):c.473A>G (p.Lys158Arg)
|
rs769364081
|
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
|
NM_032043.3(BRIP1):c.475A>C (p.Lys159Gln)
|
rs2078778116
|
|
|
NM_032043.3(BRIP1):c.475A>G (p.Lys159Glu)
|
rs2078778116
|
|
|
NM_032043.3(BRIP1):c.476A>G (p.Lys159Arg)
|
rs1603362575
|
|
|
NM_032043.3(BRIP1):c.477A>C (p.Lys159Asn)
|
rs2078778020
|
|
|
NM_032043.3(BRIP1):c.477A>G (p.Lys159=)
|
|
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
|
NM_032043.3(BRIP1):c.478A>G (p.Arg160Gly)
|
|
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
|
NM_032043.3(BRIP1):c.479G>T (p.Arg160Ile)
|
rs1330277587
|
|
|
NM_032043.3(BRIP1):c.481A>G (p.Ile161Val)
|
rs786203916
|
|
|
NM_032043.3(BRIP1):c.484C>A (p.Arg162=)
|
rs747604569
|
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.485G>C (p.Arg162Pro)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.487C>G (p.Pro163Ala)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.488C>A (p.Pro163His)
|
rs2145761987
|
|
|
NM_032043.3(BRIP1):c.488C>T (p.Pro163Leu)
|
rs2145761987
|
|
|
NM_032043.3(BRIP1):c.489C>G (p.Pro163=)
|
|
|
|
NM_032043.3(BRIP1):c.48C>T (p.Tyr16=)
|
rs1603368466
|
|
|
NM_032043.3(BRIP1):c.495A>C (p.Glu165Asp)
|
rs780024960
|
|
|
NM_032043.3(BRIP1):c.499A>G (p.Thr167Ala)
|
rs1060501738
|
|
|
NM_032043.3(BRIP1):c.49T>C (p.Phe17Leu)
|
rs1603368465
|
|
|
NM_032043.3(BRIP1):c.500C>A (p.Thr167Lys)
|
rs758218234
|
|
|
NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile)
|
rs758218234
|
|
|
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys)
|
rs748211848
|
|
|
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
|
|
|
|
NM_032043.3(BRIP1):c.504G>A (p.Gln168=)
|
rs1064795698
|
|
|
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
|
|
|
|
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2145761401
|
|
|
NM_032043.3(BRIP1):c.506A>C (p.Gln169Pro)
|
rs2078776978
|
|
|
NM_032043.3(BRIP1):c.507+10G>A
|
rs1057523376
|
|
|
NM_032043.3(BRIP1):c.507+15T>C
|
rs2145760774
|
|
|
NM_032043.3(BRIP1):c.507+16T>C
|
|
|
|
NM_032043.3(BRIP1):c.507+19C>A
|
|
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
|
NM_032043.3(BRIP1):c.507+20A>G
|
rs369270945
|
|
|
NM_032043.3(BRIP1):c.507+2T>A
|
|
|
|
NM_032043.3(BRIP1):c.507+3A>G
|
|
|
|
NM_032043.3(BRIP1):c.507+6C>T
|
rs2078776834
|
|
|
NM_032043.3(BRIP1):c.507+7dup
|
rs2145761034
|
|
|
NM_032043.3(BRIP1):c.507+9A>G
|
rs2145760959
|
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
|
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)
|
rs876660937
|
|
|
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)
|
rs876660937
|
|
|
NM_032043.3(BRIP1):c.508-10G>A
|
rs2078749443
|
|
|
NM_032043.3(BRIP1):c.508-10G>C
|
rs2078749443
|
|
|
NM_032043.3(BRIP1):c.508-10G>T
|
|
|
|
NM_032043.3(BRIP1):c.508-12C>T
|
rs2145745562
|
|
|
NM_032043.3(BRIP1):c.508-16G>C
|
rs1423428195
|
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
|
NM_032043.3(BRIP1):c.508-20T>G
|
|
|
|
NM_032043.3(BRIP1):c.508-2A>C
|
rs876659707
|
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
|
NM_032043.3(BRIP1):c.508-2A>T
|
rs876659707
|
|
|
NM_032043.3(BRIP1):c.508-3C>T
|
|
|
|
NM_032043.3(BRIP1):c.508-8G>A
|
rs202074040
|
|
|
NM_032043.3(BRIP1):c.508A>G (p.Ile170Val)
|
rs1603361718
|
|
|
NM_032043.3(BRIP1):c.510T>C (p.Ile170=)
|
|
|
|
NM_032043.3(BRIP1):c.510T>G (p.Ile170Met)
|
|
|
|
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
|
|
|
|
NM_032043.3(BRIP1):c.514A>G (p.Lys172Glu)
|
rs1060501765
|
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
|
NM_032043.3(BRIP1):c.516A>G (p.Lys172=)
|
|
|
|
NM_032043.3(BRIP1):c.518G>C (p.Arg173Pro)
|
rs761432927
|
|
|
NM_032043.3(BRIP1):c.520C>T (p.His174Tyr)
|
rs776248182
|
|
|
NM_032043.3(BRIP1):c.524G>A (p.Cys175Tyr)
|
rs2145744852
|
|
|
NM_032043.3(BRIP1):c.525C>T (p.Cys175=)
|
rs2078748660
|
|
|
NM_032043.3(BRIP1):c.526T>G (p.Phe176Val)
|
rs746963627
|
|
|
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
|
|
|
|
NM_032043.3(BRIP1):c.527T>G (p.Phe176Cys)
|
rs2078748560
|
|
|
NM_032043.3(BRIP1):c.529G>C (p.Gly177Arg)
|
rs2078748501
|
|
|
NM_032043.3(BRIP1):c.52C>G (p.Pro18Ala)
|
|
|
|
NM_032043.3(BRIP1):c.52C>T (p.Pro18Ser)
|
rs1555618724
|
|
|
NM_032043.3(BRIP1):c.530G>A (p.Gly177Glu)
|
rs2078748443
|
|
|
NM_032043.3(BRIP1):c.532A>C (p.Thr178Pro)
|
|
|
|
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
|
|
|
|
NM_032043.3(BRIP1):c.533C>G (p.Thr178Arg)
|
rs876658780
|
|
|
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile)
|
rs876658780
|
|
|
NM_032043.3(BRIP1):c.534A>G (p.Thr178=)
|
rs2145744562
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
|
NM_032043.3(BRIP1):c.536_538dup (p.Glu179dup)
|
rs1567866837
|
|
|
NM_032043.3(BRIP1):c.538G>A (p.Val180Ile)
|
rs1603361670
|
|
|
NM_032043.3(BRIP1):c.538G>C (p.Val180Leu)
|
|
|
|
NM_032043.3(BRIP1):c.542A>G (p.His181Arg)
|
rs2078748128
|
|
|
NM_032043.3(BRIP1):c.543C>A (p.His181Gln)
|
|
|
|
NM_032043.3(BRIP1):c.543C>T (p.His181=)
|
rs1285947952
|
|
|
NM_032043.3(BRIP1):c.544A>C (p.Asn182His)
|
|
|
|
NM_032043.3(BRIP1):c.545A>G (p.Asn182Ser)
|
rs2145744130
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
|
NM_032043.3(BRIP1):c.549G>A (p.Leu183=)
|
rs1060504335
|
|
|
NM_032043.3(BRIP1):c.549G>C (p.Leu183Phe)
|
rs1060504335
|
|
|
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)
|
rs201047375
|
|
|
NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr)
|
rs745645356
|
|
|
NM_032043.3(BRIP1):c.556A>C (p.Lys186Gln)
|
rs730881624
|
|
|
NM_032043.3(BRIP1):c.559G>T (p.Val187Phe)
|
rs876659064
|
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
|
NM_032043.3(BRIP1):c.560T>C (p.Val187Ala)
|
rs2078747614
|
|
|
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)
|
rs1555615763
|
|
|
NM_032043.3(BRIP1):c.566C>T (p.Ser189Leu)
|
rs1555615763
|
|
|
NM_032043.3(BRIP1):c.568G>A (p.Gly190Arg)
|
|
|
|
NM_032043.3(BRIP1):c.572A>G (p.Lys191Arg)
|
rs748268716
|
|
|
NM_032043.3(BRIP1):c.574A>C (p.Thr192Pro)
|
rs2078747261
|
|
|
NM_032043.3(BRIP1):c.575C>A (p.Thr192Asn)
|
rs1429063662
|
|
|
NM_032043.3(BRIP1):c.576T>C (p.Thr192=)
|
rs781282996
|
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
|
NM_032043.3(BRIP1):c.579A>G (p.Val193=)
|
rs2145743084
|
|
|
NM_032043.3(BRIP1):c.57T>C (p.Tyr19=)
|
rs876659588
|
|
|
NM_032043.3(BRIP1):c.582A>T (p.Lys194Asn)
|
|
|
|
NM_032043.3(BRIP1):c.587A>C (p.Asn196Thr)
|
|
|
|
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)
|
rs758851721
|
|
|
NM_032043.3(BRIP1):c.588C>T (p.Asn196=)
|
rs758851721
|
|
|
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro)
|
rs530897769
|
|
|
NM_032043.3(BRIP1):c.590C>A (p.Ser197Tyr)
|
rs533184563
|
|
|
NM_032043.3(BRIP1):c.590C>G (p.Ser197Cys)
|
rs533184563
|
|
|
NM_032043.3(BRIP1):c.591T>A (p.Ser197=)
|
|
|
|
NM_032043.3(BRIP1):c.592C>A (p.Pro198Thr)
|
|
|
|
NM_032043.3(BRIP1):c.594A>G (p.Pro198=)
|
rs2145742604
|
|
|
NM_032043.3(BRIP1):c.597G>A (p.Leu199=)
|
rs2078746387
|
|
|
NM_032043.3(BRIP1):c.598G>A (p.Glu200Lys)
|
rs2078746295
|
|
|
NM_032043.3(BRIP1):c.599A>G (p.Glu200Gly)
|
rs1555615732
|
|
|
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe)
|
rs751194347
|
|
|
NM_032043.3(BRIP1):c.600A>G (p.Glu200=)
|
|
|
|
NM_032043.3(BRIP1):c.602A>G (p.Lys201Arg)
|
rs1555615729
|
|
|
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
|
|
|
|
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val)
|
rs778275257
|
|
|
NM_032043.3(BRIP1):c.604A>T (p.Ile202Leu)
|
rs778275257
|
|
|
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer)
|
rs1603361577
|
|
|
NM_032043.3(BRIP1):c.608A>G (p.Asn203Ser)
|
rs2078745913
|
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
|
NM_032043.3(BRIP1):c.610T>G (p.Ser204Ala)
|
rs761401027
|
|
|
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)
|
rs1060501731
|
|
|
NM_032043.3(BRIP1):c.612C>T (p.Ser204=)
|
|
|
|
NM_032043.3(BRIP1):c.613T>C (p.Phe205Leu)
|
rs1603361561
|
|
|
NM_032043.3(BRIP1):c.613T>G (p.Phe205Val)
|
rs1603361561
|
|
|
NM_032043.3(BRIP1):c.618G>A (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.618G>C (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.618G>T (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.620C>T (p.Pro207Leu)
|
rs2145741807
|
|
|
NM_032043.3(BRIP1):c.621A>G (p.Pro207=)
|
|
|
|
NM_032043.3(BRIP1):c.625A>G (p.Lys209Glu)
|
rs2078745221
|
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
|
|
NM_032043.3(BRIP1):c.627+11A>G
|
|
|
|
NM_032043.3(BRIP1):c.627+15C>T
|
|
|
|
NM_032043.3(BRIP1):c.627+1G>A
|
rs587780833
|
|
|
NM_032043.3(BRIP1):c.627+2T>A
|
rs2078745026
|
|
|
NM_032043.3(BRIP1):c.627+2_627+9dup
|
|
|
|
NM_032043.3(BRIP1):c.627+3A>G
|
rs777434654
|
|
|
NM_032043.3(BRIP1):c.627+6T>C
|
|
|
|
NM_032043.3(BRIP1):c.627+7A>G
|
rs1060504334
|
|
|
NM_032043.3(BRIP1):c.627A>G (p.Lys209=)
|
rs1555615717
|
|
|
NM_032043.3(BRIP1):c.628-10T>C
|
rs375646029
|
|
|
NM_032043.3(BRIP1):c.628-11del
|
|
|
|
NM_032043.3(BRIP1):c.628-15T>C
|
|
|
|
NM_032043.3(BRIP1):c.628-15dup
|
rs2078118670
|
|
|
NM_032043.3(BRIP1):c.628-1G>A
|
rs1219435870
|
|
|
NM_032043.3(BRIP1):c.628-2A>G
|
rs995056553
|
|
|
NM_032043.3(BRIP1):c.628-2A>T
|
rs995056553
|
|
|
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
|
|
|
|
NM_032043.3(BRIP1):c.628-2dup
|
|
|
|
NM_032043.3(BRIP1):c.628-3C>T
|
|
|
|
NM_032043.3(BRIP1):c.628-5T>C
|
|
|
|
NM_032043.3(BRIP1):c.628-5_629del
|
rs1555609402
|
|
|
NM_032043.3(BRIP1):c.628-6T>G
|
|
|
|
NM_032043.3(BRIP1):c.628-7C>T
|
rs2145424156
|
|
|
NM_032043.3(BRIP1):c.628-8del
|
rs2145424216
|
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
|
NM_032043.3(BRIP1):c.629C>T (p.Pro210Leu)
|
rs140097800
|
|
|
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp)
|
rs1603368436
|
|
|
NM_032043.3(BRIP1):c.62C>T (p.Ala21Val)
|
rs1603368436
|
|
|
NM_032043.3(BRIP1):c.630C>T (p.Pro210=)
|
rs864622510
|
|
|
NM_032043.3(BRIP1):c.631C>T (p.Pro211Ser)
|
rs2078117905
|
|
|
NM_032043.3(BRIP1):c.632C>T (p.Pro211Leu)
|
rs780026145
|
|
|
NM_032043.3(BRIP1):c.632del (p.Pro211fs)
|
rs1060501779
|
|
|
NM_032043.3(BRIP1):c.633T>C (p.Pro211=)
|
rs1603347066
|
|
|
NM_032043.3(BRIP1):c.634G>A (p.Gly212Ser)
|
rs1555609387
|
|
|
NM_032043.3(BRIP1):c.634G>C (p.Gly212Arg)
|
rs1555609387
|
|
|
NM_032043.3(BRIP1):c.636C>A (p.Gly212=)
|
rs1057520255
|
|
|
NM_032043.3(BRIP1):c.637del (p.His213fs)
|
|
|
|
NM_032043.3(BRIP1):c.638A>C (p.His213Pro)
|
rs376760085
|
|
|
NM_032043.3(BRIP1):c.63T>C (p.Ala21=)
|
rs2145864480
|
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
|
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr)
|
rs12947398
|
|
|
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe)
|
rs12947398
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
|
NM_032043.3(BRIP1):c.645T>G (p.Ser215=)
|
|
|
|
NM_032043.3(BRIP1):c.646A>G (p.Arg216Gly)
|
rs2078116990
|
|
|
NM_032043.3(BRIP1):c.648G>A (p.Arg216=)
|
|
|
|
NM_032043.3(BRIP1):c.649T>A (p.Cys217Ser)
|
rs2145422887
|
|
|
NM_032043.3(BRIP1):c.64T>A (p.Tyr22Asn)
|
rs876659008
|
|
|
NM_032043.3(BRIP1):c.650G>A (p.Cys217Tyr)
|
rs587782156
|
|
|
NM_032043.3(BRIP1):c.650G>T (p.Cys217Phe)
|
rs587782156
|
|
|
NM_032043.3(BRIP1):c.651C>T (p.Cys217=)
|
rs1555609365
|
|
|
NM_032043.3(BRIP1):c.653G>T (p.Cys218Phe)
|
|
|
|
NM_032043.3(BRIP1):c.653GTT[1] (p.Cys219del)
|
rs1555609353
|
|
|
NM_032043.3(BRIP1):c.654T>C (p.Cys218=)
|
rs2145422653
|
|
|
NM_032043.3(BRIP1):c.654T>G (p.Cys218Trp)
|
|
|
|
NM_032043.3(BRIP1):c.656G>A (p.Cys219Tyr)
|
rs587782238
|
|
|
NM_032043.3(BRIP1):c.658T>C (p.Ser220Pro)
|
rs1555609351
|
|
|
NM_032043.3(BRIP1):c.65A>C (p.Tyr22Ser)
|
|
|
|
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro)
|
rs777618772
|
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
|
NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu)
|
|
|
|
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.66C>T (p.Tyr22=)
|
rs1603368431
|
|
|
NM_032043.3(BRIP1):c.670G>C (p.Gly224Arg)
|
rs1567838486
|
|
|
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala)
|
rs990737815
|
|
|
NM_032043.3(BRIP1):c.672A>C (p.Gly224=)
|
rs752356873
|
|
|
NM_032043.3(BRIP1):c.675C>T (p.Asn225=)
|
rs2145421606
|
|
|
NM_032043.3(BRIP1):c.677G>A (p.Ser226Asn)
|
rs2078115717
|
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
|
NM_032043.3(BRIP1):c.67C>A (p.Pro23Thr)
|
rs1603368425
|
|
|
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala)
|
rs1603368425
|
|
|
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
|
|
|
|
NM_032043.3(BRIP1):c.681A>G (p.Gln227=)
|
rs1603346946
|
|
|
NM_032043.3(BRIP1):c.683A>G (p.Glu228Gly)
|
|
|
|
NM_032043.3(BRIP1):c.684G>T (p.Glu228Asp)
|
rs876659909
|
|
|
NM_032043.3(BRIP1):c.685T>C (p.Ser229Pro)
|
rs2145421239
|
|
|
NM_032043.3(BRIP1):c.688T>C (p.Ser230Pro)
|
rs2145421148
|
|
|
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
|
|
|
|
NM_032043.3(BRIP1):c.68C>G (p.Pro23Arg)
|
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
|
NM_032043.3(BRIP1):c.690G>A (p.Ser230=)
|
rs751460179
|
|
|
NM_032043.3(BRIP1):c.690G>C (p.Ser230=)
|
rs751460179
|
|
|
NM_032043.3(BRIP1):c.694A>C (p.Thr232Pro)
|
rs2078115132
|
|
|
NM_032043.3(BRIP1):c.695C>G (p.Thr232Ser)
|
rs762781085
|
|
|
NM_032043.3(BRIP1):c.696C>T (p.Thr232=)
|
rs772957320
|
|
|
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val)
|
rs769535320
|
|
|
NM_032043.3(BRIP1):c.699T>C (p.Ile233=)
|
|
|
|
NM_032043.3(BRIP1):c.700A>C (p.Lys234Gln)
|
rs1060501780
|
|
|
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu)
|
rs1060501780
|
|
|
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del)
|
rs876659379
|
|
|
NM_032043.3(BRIP1):c.701A>C (p.Lys234Thr)
|
rs587780834
|
|
|
NM_032043.3(BRIP1):c.706G>C (p.Asp236His)
|
rs1555609300
|
|
|
NM_032043.3(BRIP1):c.707A>T (p.Asp236Val)
|
rs1567838306
|
|
|
NM_032043.3(BRIP1):c.710A>G (p.His237Arg)
|
rs1567838288
|
|
|
NM_032043.3(BRIP1):c.711T>C (p.His237=)
|
rs772048413
|
|
|
NM_032043.3(BRIP1):c.712A>G (p.Thr238Ala)
|
rs1490001091
|
|
|
NM_032043.3(BRIP1):c.717G>A (p.Gly239=)
|
rs2078113961
|
|
|
NM_032043.3(BRIP1):c.719A>C (p.Lys240Thr)
|
rs1350322711
|
|
|
NM_032043.3(BRIP1):c.719A>T (p.Lys240Ile)
|
rs1350322711
|
|
|
NM_032043.3(BRIP1):c.71C>T (p.Ser24Leu)
|
rs1567878087
|
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
|
NM_032043.3(BRIP1):c.720A>G (p.Lys240=)
|
rs1259212372
|
|
|
NM_032043.3(BRIP1):c.721T>A (p.Ser241Thr)
|
|
|
|
NM_032043.3(BRIP1):c.723C>T (p.Ser241=)
|
rs1567838225
|
|
|
NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg)
|
rs876660647
|
|
|
NM_032043.3(BRIP1):c.726G>T (p.Lys242Asn)
|
|
|
|
NM_032043.3(BRIP1):c.726_734del (p.Pro244_Ile246del)
|
|
|
|
NM_032043.3(BRIP1):c.727A>T (p.Ile243Leu)
|
rs2078113517
|
|
|
NM_032043.3(BRIP1):c.730C>G (p.Pro244Ala)
|
|
|
|
NM_032043.3(BRIP1):c.730_738del (p.Pro244_Ile246del)
|
rs1603346861
|
|
|
NM_032043.3(BRIP1):c.731C>G (p.Pro244Arg)
|
rs2145419213
|
|
|
NM_032043.3(BRIP1):c.732C>T (p.Pro244=)
|
rs786202300
|
|
|
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg)
|
rs1064795594
|
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
|
NM_032043.3(BRIP1):c.735A>C (p.Lys245Asn)
|
|
|
|
NM_032043.3(BRIP1):c.735A>G (p.Lys245=)
|
rs2145419080
|
|
|
NM_032043.3(BRIP1):c.736A>C (p.Ile246Leu)
|
rs376893571
|
|
|
NM_032043.3(BRIP1):c.736A>T (p.Ile246Leu)
|
rs376893571
|
|
|
NM_032043.3(BRIP1):c.737T>G (p.Ile246Arg)
|
|
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
|
NM_032043.3(BRIP1):c.73_74insGAC (p.Ser24_Gln25insArg)
|
rs2145864048
|
|
|
NM_032043.3(BRIP1):c.73_93+14del
|
rs2145863122
|
|
|
NM_032043.3(BRIP1):c.741T>C (p.Tyr247=)
|
|
|
|
NM_032043.3(BRIP1):c.743T>C (p.Phe248Ser)
|
rs2078112912
|
|
|
NM_032043.3(BRIP1):c.746G>A (p.Gly249Glu)
|
rs2078112856
|
|
|
NM_032043.3(BRIP1):c.747G>A (p.Gly249=)
|
rs2145418607
|
|
|
NM_032043.3(BRIP1):c.748A>T (p.Thr250Ser)
|
rs2078112756
|
|
|
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
|
rs1555609275
|
|
|
NM_032043.3(BRIP1):c.750A>T (p.Thr250=)
|
rs1057522393
|
|
|
NM_032043.3(BRIP1):c.752G>C (p.Arg251Pro)
|
rs780834054
|
|
|
NM_032043.3(BRIP1):c.754A>C (p.Thr252Pro)
|
|
|
|
NM_032043.3(BRIP1):c.754A>G (p.Thr252Ala)
|
rs1567838131
|
|
|
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile)
|
rs1567838124
|
|
|
NM_032043.3(BRIP1):c.756A>G (p.Thr252=)
|
|
|
|
NM_032043.3(BRIP1):c.757C>G (p.His253Asp)
|
rs2078112338
|
|
|
NM_032043.3(BRIP1):c.758A>G (p.His253Arg)
|
rs2078112284
|
|
|
NM_032043.3(BRIP1):c.759C>G (p.His253Gln)
|
|
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
|
NM_032043.3(BRIP1):c.75G>A (p.Gln25=)
|
rs1555618712
|
|
|
NM_032043.3(BRIP1):c.761A>G (p.Lys254Arg)
|
rs2145417925
|
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
|
NM_032043.3(BRIP1):c.764A>C (p.Gln255Pro)
|
rs1567838107
|
|
|
NM_032043.3(BRIP1):c.764A>G (p.Gln255Arg)
|
rs1567838107
|
|
|
NM_032043.3(BRIP1):c.765G>A (p.Gln255=)
|
rs2078111971
|
|
|
NM_032043.3(BRIP1):c.766A>G (p.Ile256Val)
|
rs2145417649
|
|
|
NM_032043.3(BRIP1):c.768T>C (p.Ile256=)
|
rs1452578169
|
|
|
NM_032043.3(BRIP1):c.769G>A (p.Ala257Thr)
|
rs754515912
|
|
|
NM_032043.3(BRIP1):c.769_777dup (p.Ala257_Ile259dup)
|
rs1603346813
|
|
|
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val)
|
rs1555609260
|
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
|
NM_032043.3(BRIP1):c.773A>C (p.Gln258Pro)
|
rs1567838078
|
|
|
NM_032043.3(BRIP1):c.775A>G (p.Ile259Val)
|
rs2145417254
|
|
|
NM_032043.3(BRIP1):c.775A>T (p.Ile259Phe)
|
|
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
|
NM_032043.3(BRIP1):c.77T>C (p.Leu26Pro)
|
rs1603368414
|
|
|
NM_032043.3(BRIP1):c.77T>G (p.Leu26Arg)
|
rs1603368414
|
|
|
NM_032043.3(BRIP1):c.781A>G (p.Arg261Gly)
|
rs2078111313
|
|
|
NM_032043.3(BRIP1):c.783A>T (p.Arg261Ser)
|
rs1441703380
|
|
|
NM_032043.3(BRIP1):c.784G>A (p.Glu262Lys)
|
rs2145416868
|
|
|
NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala)
|
rs876658283
|
|
|
NM_032043.3(BRIP1):c.786G>A (p.Glu262=)
|
rs876658312
|
|
|
NM_032043.3(BRIP1):c.786G>T (p.Glu262Asp)
|
|
|
|
NM_032043.3(BRIP1):c.787C>G (p.Leu263Val)
|
rs1060501776
|
|
|
NM_032043.3(BRIP1):c.788T>C (p.Leu263Pro)
|
|
|
|
NM_032043.3(BRIP1):c.789C>A (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.789C>G (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.789C>T (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
|
NM_032043.3(BRIP1):c.790C>G (p.Arg264Gly)
|
rs28997569
|
|
|
NM_032043.3(BRIP1):c.792G>T (p.Arg264=)
|
rs1555609230
|
|
|
NM_032043.3(BRIP1):c.793A>G (p.Arg265Gly)
|
rs876659650
|
|
|
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser)
|
rs61754143
|
|
|
NM_032043.3(BRIP1):c.798G>A (p.Thr266=)
|
rs1260055674
|
|
|
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs)
|
rs1603368490
|
|
|
NM_032043.3(BRIP1):c.800C>T (p.Ala267Val)
|
rs730881631
|
|
|
NM_032043.3(BRIP1):c.803A>G (p.Tyr268Cys)
|
rs2078110465
|
|
|
NM_032043.3(BRIP1):c.804T>C (p.Tyr268=)
|
rs587782514
|
|
|
NM_032043.3(BRIP1):c.805T>C (p.Ser269Pro)
|
rs2078110345
|
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
|
NM_032043.3(BRIP1):c.806C>T (p.Ser269Leu)
|
rs1412610651
|
|
|
NM_032043.3(BRIP1):c.807A>G (p.Ser269=)
|
|
|
|
NM_032043.3(BRIP1):c.808G>A (p.Gly270Arg)
|
rs1401241698
|
|
|
NM_032043.3(BRIP1):c.815C>T (p.Pro272Leu)
|
|
|
|
NM_032043.3(BRIP1):c.816A>C (p.Pro272=)
|
rs765027420
|
|
|
NM_032043.3(BRIP1):c.816A>G (p.Pro272=)
|
rs765027420
|
|
|
NM_032043.3(BRIP1):c.817A>C (p.Met273Leu)
|
rs587781797
|
|
|
NM_032043.3(BRIP1):c.817A>G (p.Met273Val)
|
rs587781797
|
|
|
NM_032043.3(BRIP1):c.819_824del (p.Met273_Thr274del)
|
rs2145414960
|
|
|
NM_032043.3(BRIP1):c.822T>C (p.Thr274=)
|
|
|
|
NM_032043.3(BRIP1):c.823A>C (p.Ile275Leu)
|
|
|
|
NM_032043.3(BRIP1):c.823A>T (p.Ile275Phe)
|
rs587781425
|
|
|
NM_032043.3(BRIP1):c.826C>T (p.Leu276Phe)
|
|
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.82A>T (p.Met28Leu)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.831C>T (p.Ser277=)
|
rs45549332
|
|
|
NM_032043.3(BRIP1):c.832A>C (p.Ser278Arg)
|
rs1567837876
|
|
|
NM_032043.3(BRIP1):c.832A>G (p.Ser278Gly)
|
rs1567837876
|
|
|
NM_032043.3(BRIP1):c.834C>T (p.Ser278=)
|
rs1060501725
|
|
|
NM_032043.3(BRIP1):c.836G>A (p.Arg279Lys)
|
|
|
|
NM_032043.3(BRIP1):c.837G>A (p.Arg279=)
|
|
|
|
NM_032043.3(BRIP1):c.837G>C (p.Arg279Ser)
|
rs759584091
|
|
|
NM_032043.3(BRIP1):c.837G>T (p.Arg279Ser)
|
rs759584091
|
|
|
NM_032043.3(BRIP1):c.838G>T (p.Asp280Tyr)
|
rs2078109366
|
|
|
NM_032043.3(BRIP1):c.839A>T (p.Asp280Val)
|
|
|
|
NM_032043.3(BRIP1):c.83T>A (p.Met28Lys)
|
rs786202674
|
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
|
NM_032043.3(BRIP1):c.841C>A (p.His281Asn)
|
rs1064795442
|
|
|
NM_032043.3(BRIP1):c.842A>C (p.His281Pro)
|
rs1603346710
|
|
|
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
|
|
|
|
NM_032043.3(BRIP1):c.843T>C (p.His281=)
|
rs1555609187
|
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
|
NM_032043.3(BRIP1):c.845C>T (p.Thr282Ile)
|
rs45624635
|
|
|
NM_032043.3(BRIP1):c.846T>C (p.Thr282=)
|
rs2145413899
|
|
|
NM_032043.3(BRIP1):c.847T>C (p.Cys283Arg)
|
rs1555609186
|
|
|
NM_032043.3(BRIP1):c.847T>G (p.Cys283Gly)
|
rs1555609186
|
|
|
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr)
|
rs771096783
|
|
|
NM_032043.3(BRIP1):c.848G>T (p.Cys283Phe)
|
rs771096783
|
|
|
NM_032043.3(BRIP1):c.851T>C (p.Val284Ala)
|
|
|
|
NM_032043.3(BRIP1):c.854A>C (p.His285Pro)
|
rs141055990
|
|
|
NM_032043.3(BRIP1):c.855T>C (p.His285=)
|
|
|
|
NM_032043.3(BRIP1):c.856C>T (p.Pro286Ser)
|
rs770289817
|
|
|
NM_032043.3(BRIP1):c.857C>G (p.Pro286Arg)
|
rs2078108519
|
|
|
NM_032043.3(BRIP1):c.858T>C (p.Pro286=)
|
rs2145413343
|
|
|
NM_032043.3(BRIP1):c.85A>G (p.Met29Val)
|
rs2078971287
|
|
|
NM_032043.3(BRIP1):c.861G>C (p.Glu287Asp)
|
rs1603346684
|
|
|
NM_032043.3(BRIP1):c.863T>C (p.Val288Ala)
|
rs1375475281
|
|
|
NM_032043.3(BRIP1):c.864A>G (p.Val288=)
|
rs748545827
|
|
|
NM_032043.3(BRIP1):c.865G>A (p.Val289Ile)
|
rs1567837768
|
|
|
NM_032043.3(BRIP1):c.865G>C (p.Val289Leu)
|
rs1567837768
|
|
|
NM_032043.3(BRIP1):c.866T>G (p.Val289Gly)
|
rs2078108215
|
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
|
NM_032043.3(BRIP1):c.867C>A (p.Val289=)
|
rs147739458
|
|
|
NM_032043.3(BRIP1):c.867C>G (p.Val289=)
|
rs147739458
|
|
|
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser)
|
rs145601931
|
|
|
NM_032043.3(BRIP1):c.869G>C (p.Gly290Ala)
|
rs148556781
|
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
|
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile)
|
rs769585673
|
|
|
NM_032043.3(BRIP1):c.885T>C (p.Asn295=)
|
|
|
|
NM_032043.3(BRIP1):c.886G>A (p.Glu296Lys)
|
rs876660125
|
|
|
NM_032043.3(BRIP1):c.887A>C (p.Glu296Ala)
|
rs878855158
|
|
|
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp)
|
rs876658249
|
|
|
NM_032043.3(BRIP1):c.889A>C (p.Lys297Gln)
|
rs876658528
|
|
|
NM_032043.3(BRIP1):c.88A>C (p.Asn30His)
|
|
|
|
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr)
|
rs28997570
|
|
|
NM_032043.3(BRIP1):c.890A>T (p.Lys297Met)
|
|
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
|
NM_032043.3(BRIP1):c.892T>C (p.Cys298Arg)
|
rs1555609145
|
|
|
NM_032043.3(BRIP1):c.893G>A (p.Cys298Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.894C>G (p.Cys298Trp)
|
|
|
|
NM_032043.3(BRIP1):c.894C>T (p.Cys298=)
|
rs2078107086
|
|
|
NM_032043.3(BRIP1):c.895A>C (p.Met299Leu)
|
|
|
|
NM_032043.3(BRIP1):c.895A>G (p.Met299Val)
|
rs1242769076
|
|
|
NM_032043.3(BRIP1):c.896T>C (p.Met299Thr)
|
rs2078106961
|
|
|
NM_032043.3(BRIP1):c.897G>A (p.Met299Ile)
|
rs137852985
|
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
|
NM_032043.3(BRIP1):c.901T>C (p.Leu301=)
|
rs2145411199
|
|
|
NM_032043.3(BRIP1):c.901T>G (p.Leu301Val)
|
|
|
|
NM_032043.3(BRIP1):c.902T>C (p.Leu301Ser)
|
rs750376292
|
|
|
NM_032043.3(BRIP1):c.903G>A (p.Leu301=)
|
rs876660578
|
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
|
NM_032043.3(BRIP1):c.905T>C (p.Leu302Pro)
|
|
|
|
NM_032043.3(BRIP1):c.906A>G (p.Leu302=)
|
|
|
|
NM_032043.3(BRIP1):c.907G>T (p.Asp303Tyr)
|
rs2145410870
|
|
|
NM_032043.3(BRIP1):c.908A>G (p.Asp303Gly)
|
rs1555609130
|
|
|
NM_032043.3(BRIP1):c.909T>C (p.Asp303=)
|
|
|
|
NM_032043.3(BRIP1):c.910G>A (p.Gly304Arg)
|
rs1567837588
|
|
|
NM_032043.3(BRIP1):c.911G>A (p.Gly304Glu)
|
rs1459305482
|
|
|
NM_032043.3(BRIP1):c.912G>A (p.Gly304=)
|
rs786201326
|
|
|
NM_032043.3(BRIP1):c.912G>C (p.Gly304=)
|
rs786201326
|
|
|
NM_032043.3(BRIP1):c.914A>C (p.Lys305Thr)
|
|
|
|
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser)
|
rs1567837564
|
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
|
NM_032043.3(BRIP1):c.918+10G>A
|
rs1365605495
|
|
|
NM_032043.3(BRIP1):c.918+12T>G
|
|
|
|
NM_032043.3(BRIP1):c.918+14T>C
|
rs757068323
|
|
|
NM_032043.3(BRIP1):c.918+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.918+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.918+17del
|
|
|
|
NM_032043.3(BRIP1):c.918+2790_1121del
|
|
|
|
NM_032043.3(BRIP1):c.918+5G>A
|
rs2078106072
|
|
|
NM_032043.3(BRIP1):c.918+7A>G
|
rs1060504329
|
|
|
NM_032043.3(BRIP1):c.918+8A>C
|
rs765147876
|
|
|
NM_032043.3(BRIP1):c.918+9A>G
|
rs2145410020
|
|
|
NM_032043.3(BRIP1):c.918C>T (p.Asn306=)
|
rs876660724
|
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
|
NM_032043.3(BRIP1):c.919-10T>A
|
|
|
|
NM_032043.3(BRIP1):c.919-12A>G
|
|
|
|
NM_032043.3(BRIP1):c.919-14A>G
|
rs928815517
|
|
|
NM_032043.3(BRIP1):c.919-14A>T
|
|
|
|
NM_032043.3(BRIP1):c.919-16G>A
|
|
|
|
NM_032043.3(BRIP1):c.919-16G>T
|
|
|
|
NM_032043.3(BRIP1):c.919-17dup
|
|
|
|
NM_032043.3(BRIP1):c.919-18A>C
|
|
|
|
NM_032043.3(BRIP1):c.919-18A>T
|
rs773910941
|
|
|
NM_032043.3(BRIP1):c.919-1G>A
|
|
|
|
NM_032043.3(BRIP1):c.919-3T>C
|
rs2077994124
|
|
|
NM_032043.3(BRIP1):c.919-4C>T
|
|
|
|
NM_032043.3(BRIP1):c.919-8G>A
|
rs777079928
|
|
|
NM_032043.3(BRIP1):c.920G>A (p.Gly307Glu)
|
rs1603343427
|
|
|
NM_032043.3(BRIP1):c.920G>C (p.Gly307Ala)
|
rs1603343427
|
|
|
NM_032043.3(BRIP1):c.921A>G (p.Gly307=)
|
rs786202337
|
|
|
NM_032043.3(BRIP1):c.926C>A (p.Ser309Tyr)
|
rs2077993753
|
|
|
NM_032043.3(BRIP1):c.926C>T (p.Ser309Phe)
|
rs2077993753
|
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.929G>C (p.Cys310Ser)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.929_931del (p.Cys310del)
|
rs2145342477
|
|
|
NM_032043.3(BRIP1):c.93+10T>A
|
rs2145863247
|
|
|
NM_032043.3(BRIP1):c.93+11_93+12dup
|
rs1064794767
|
|
|
NM_032043.3(BRIP1):c.93+14A>C
|
|
|
|
NM_032043.3(BRIP1):c.93+15G>T
|
rs113052745
|
|
|
NM_032043.3(BRIP1):c.93+17A>G
|
rs778826728
|
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
|
NM_032043.3(BRIP1):c.93+1G>T
|
rs587782047
|
|
|
NM_032043.3(BRIP1):c.93+2T>C
|
rs775755739
|
|
|
NM_032043.3(BRIP1):c.93+2del
|
|
|
|
NM_032043.3(BRIP1):c.93+3A>C
|
|
|
|
NM_032043.3(BRIP1):c.93+4A>T
|
|
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
|
NM_032043.3(BRIP1):c.93+6T>C
|
rs2078970954
|
|
|
NM_032043.3(BRIP1):c.93+8T>G
|
rs1567878012
|
|
|
NM_032043.3(BRIP1):c.93+9T>A
|
|
|
|
NM_032043.3(BRIP1):c.931T>C (p.Tyr311His)
|
rs1603343412
|
|
|
NM_032043.3(BRIP1):c.932A>T (p.Tyr311Phe)
|
rs587782731
|
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
|
NM_032043.3(BRIP1):c.934T>A (p.Phe312Ile)
|
rs2145342258
|
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
|
NM_032043.3(BRIP1):c.93T>C (p.Ser31=)
|
rs1555618697
|
|
|
NM_032043.3(BRIP1):c.94-10del
|
rs2145853311
|
|
|
NM_032043.3(BRIP1):c.94-16G>C
|
|
|
|
NM_032043.3(BRIP1):c.94-1G>A
|
|
|
|
NM_032043.3(BRIP1):c.94-4A>T
|
rs765154059
|
|
|
NM_032043.3(BRIP1):c.94-5C>G
|
rs2078952191
|
|
|
NM_032043.3(BRIP1):c.94-7_178dup
|
rs1555618396
|
|
|
NM_032043.3(BRIP1):c.94-8G>A
|
|
|
|
NM_032043.3(BRIP1):c.94-8G>T
|
rs750361927
|
|
|
NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.941A>G (p.His314Arg)
|
rs112076926
|
|
|
NM_032043.3(BRIP1):c.942T>C (p.His314=)
|
|
|
|
NM_032043.3(BRIP1):c.944G>A (p.Gly315Glu)
|
rs867548960
|
|
|
NM_032043.3(BRIP1):c.944G>T (p.Gly315Val)
|
rs867548960
|
|
|
NM_032043.3(BRIP1):c.945A>G (p.Gly315=)
|
|
|
|
NM_032043.3(BRIP1):c.945A>T (p.Gly315=)
|
|
|
|
NM_032043.3(BRIP1):c.949C>G (p.His317Asp)
|
|
|
|
NM_032043.3(BRIP1):c.94A>T (p.Ile32Phe)
|
rs776386693
|
|
|
NM_032043.3(BRIP1):c.953A>G (p.Lys318Arg)
|
rs2077992906
|
|
|
NM_032043.3(BRIP1):c.957T>C (p.Ile319=)
|
|
|
|
NM_032043.3(BRIP1):c.958A>G (p.Ser320Gly)
|
rs2145341128
|
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
|
NM_032043.3(BRIP1):c.961G>A (p.Asp321Asn)
|
|
|
|
NM_032043.3(BRIP1):c.962A>G (p.Asp321Gly)
|
rs2077992652
|
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
|
NM_032043.3(BRIP1):c.965A>G (p.Gln322Arg)
|
rs1567832102
|
|
|
NM_032043.3(BRIP1):c.966G>A (p.Gln322=)
|
rs2145340652
|
|
|
NM_032043.3(BRIP1):c.967C>T (p.His323Tyr)
|
rs2077992477
|
|
|
NM_032043.3(BRIP1):c.969C>A (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.969C>G (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.969C>T (p.His323=)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
|
rs1603367753
|
|
|
NM_032043.3(BRIP1):c.972A>G (p.Thr324=)
|
rs779627397
|
|
|
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe)
|
rs771630777
|
|
|
NM_032043.3(BRIP1):c.976C>G (p.Gln326Glu)
|
rs1555607768
|
|
|
NM_032043.3(BRIP1):c.977A>G (p.Gln326Arg)
|
rs1064794046
|
|
|
NM_032043.3(BRIP1):c.978G>A (p.Gln326=)
|
rs1555607764
|
|
|
NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)
|
|
|
|
NM_032043.3(BRIP1):c.980C>T (p.Thr327Ile)
|
rs2145339793
|
|
|
NM_032043.3(BRIP1):c.981T>A (p.Thr327=)
|
rs2145339751
|
|
|
NM_032043.3(BRIP1):c.983T>A (p.Phe328Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser)
|
rs876659057
|
|
|
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_032043.3(BRIP1):c.986A>G (p.Gln329Arg)
|
rs778863018
|
|
|
NM_032043.3(BRIP1):c.990G>A (p.Gly330=)
|
rs1060504320
|
|
|
NM_032043.3(BRIP1):c.992T>A (p.Met331Lys)
|
|
|
|
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)
|
rs587780252
|
|
|
NM_032043.3(BRIP1):c.995G>A (p.Cys332Tyr)
|
rs876660521
|
|
|
NM_032043.3(BRIP1):c.997A>G (p.Lys333Glu)
|
rs757196702
|
|
|
NM_032043.3(BRIP1):c.998A>G (p.Lys333Arg)
|
rs2145338700
|
|
|
NM_032444.4(SLX4):c.1010C>A (p.Pro337Gln)
|
rs200363140
|
|
|
NM_032444.4(SLX4):c.1014T>C (p.Ile338=)
|
|
|
|
NM_032444.4(SLX4):c.1018G>A (p.Gly340Arg)
|
|
|
|
NM_032444.4(SLX4):c.1019G>C (p.Gly340Ala)
|
|
|
|
NM_032444.4(SLX4):c.101A>T (p.Gln34Leu)
|
rs1567178416
|
|
|
NM_032444.4(SLX4):c.1025C>T (p.Pro342Leu)
|
|
|
|
NM_032444.4(SLX4):c.1029del (p.Thr345fs)
|
|
|
|
NM_032444.4(SLX4):c.103C>T (p.Pro35Ser)
|
rs2040816588
|
|
|
NM_032444.4(SLX4):c.1055A>G (p.His352Arg)
|
|
|
|
NM_032444.4(SLX4):c.1059G>C (p.Leu353Phe)
|
rs1431335924
|
|
|
NM_032444.4(SLX4):c.1062G>T (p.Lys354Asn)
|
rs2151134083
|
|
|
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
|
|
|
|
NM_032444.4(SLX4):c.1076A>T (p.Lys359Met)
|
rs2151134068
|
|
|
NM_032444.4(SLX4):c.107A>T (p.Glu36Val)
|
rs370082083
|
|
|
NM_032444.4(SLX4):c.1080G>A (p.Met360Ile)
|
|
|
|
NM_032444.4(SLX4):c.1083G>C (p.Glu361Asp)
|
rs1361684518
|
|
|
NM_032444.4(SLX4):c.1084G>C (p.Val362Leu)
|
rs2040721687
|
|
|
NM_032444.4(SLX4):c.1090C>T (p.Pro364Ser)
|
rs775276756
|
|
|
NM_032444.4(SLX4):c.1091C>A (p.Pro364His)
|
|
|
|
NM_032444.4(SLX4):c.1093del (p.Gln365fs)
|
rs1218169126
|
|
|
NM_032444.4(SLX4):c.1094A>G (p.Gln365Arg)
|
rs1243083910
|
|
|
NM_032444.4(SLX4):c.1094A>T (p.Gln365Leu)
|
|
|
|
NM_032444.4(SLX4):c.1095G>A (p.Gln365=)
|
rs2151134031
|
|
|
NM_032444.4(SLX4):c.1097_1098delinsAA (p.Leu366Gln)
|
rs2151134024
|
|
|
NM_032444.4(SLX4):c.1108G>C (p.Ala370Pro)
|
|
|
|
NM_032444.4(SLX4):c.1114C>T (p.Arg372Trp)
|
rs781393524
|
|
|
NM_032444.4(SLX4):c.1119G>A (p.Leu373=)
|
|
|
|
NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)
|
rs1171341642
|
|
|
NM_032444.4(SLX4):c.1130A>G (p.Gln377Arg)
|
|
|
|
NM_032444.4(SLX4):c.1141AGC[2] (p.Ser383del)
|
rs938490986
|
|
|
NM_032444.4(SLX4):c.1142G>A (p.Ser381Asn)
|
rs2040720721
|
|
|
NM_032444.4(SLX4):c.1151_1152inv (p.Pro384Leu)
|
|
|
|
NM_032444.4(SLX4):c.1163+10C>G
|
rs80116508
|
|
|
NM_032444.4(SLX4):c.1163+10C>T
|
rs80116508
|
|
|
NM_032444.4(SLX4):c.1163+11G>T
|
|
|
|
NM_032444.4(SLX4):c.1163+1G>A
|
|
|
|
NM_032444.4(SLX4):c.1163+2dup
|
rs2040719850
|
|
|
NM_032444.4(SLX4):c.1164-15T>G
|
|
|
|
NM_032444.4(SLX4):c.1164-9G>A
|
rs2040686112
|
|
|
NM_032444.4(SLX4):c.1175A>C (p.His392Pro)
|
rs2151132152
|
|
|
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val)
|
rs1596528058
|
|
|
NM_032444.4(SLX4):c.1188G>A (p.Leu396=)
|
rs2151132132
|
|
|
NM_032444.4(SLX4):c.1195A>G (p.Arg399Gly)
|
rs2040685339
|
|
|
NM_032444.4(SLX4):c.1207_1208delinsCC (p.Ser403Pro)
|
|
|
|
NM_032444.4(SLX4):c.1212G>C (p.Lys404Asn)
|
|
|
|
NM_032444.4(SLX4):c.1226A>G (p.Lys409Arg)
|
rs2151132042
|
|
|
NM_032444.4(SLX4):c.1227G>A (p.Lys409=)
|
rs534443134
|
|
|
NM_032444.4(SLX4):c.1230G>A (p.Arg410=)
|
rs991787767
|
|
|
NM_032444.4(SLX4):c.1236G>A (p.Lys412=)
|
|
|
|
NM_032444.4(SLX4):c.1237G>C (p.Val413Leu)
|
|
|
|
NM_032444.4(SLX4):c.1239G>A (p.Val413=)
|
|
|
|
NM_032444.4(SLX4):c.1242C>T (p.Asp414=)
|
|
|
|
NM_032444.4(SLX4):c.1246G>A (p.Ala416Thr)
|
rs1273526453
|
|
|
NM_032444.4(SLX4):c.1250C>T (p.Pro417Leu)
|
|
|
|
NM_032444.4(SLX4):c.1254C>G (p.Ser418=)
|
|
|
|
NM_032444.4(SLX4):c.1254C>T (p.Ser418=)
|
|
|
|
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
|
|
|
|
NM_032444.4(SLX4):c.1257G>A (p.Glu419=)
|
rs2151131965
|
|
|
NM_032444.4(SLX4):c.1259A>G (p.Asp420Gly)
|
rs1596527931
|
|
|
NM_032444.4(SLX4):c.1266G>C (p.Leu422=)
|
|
|
|
NM_032444.4(SLX4):c.1272C>T (p.Ala424=)
|
rs2151131919
|
|
|
NM_032444.4(SLX4):c.1274T>C (p.Met425Thr)
|
|
|
|
NM_032444.4(SLX4):c.1276G>T (p.Ala426Ser)
|
|
|
|
NM_032444.4(SLX4):c.1283C>T (p.Ser428Phe)
|
|
|
|
NM_032444.4(SLX4):c.1284C>G (p.Ser428=)
|
|
|
|
NM_032444.4(SLX4):c.1286G>A (p.Arg429Gln)
|
|
|
|
NM_032444.4(SLX4):c.1286G>T (p.Arg429Leu)
|
|
|
|
NM_032444.4(SLX4):c.1290G>A (p.Ser430=)
|
|
|
|
NM_032444.4(SLX4):c.1298A>G (p.Glu433Gly)
|
rs2151131871
|
|
|
NM_032444.4(SLX4):c.1302G>A (p.Pro434=)
|
|
|
|
NM_032444.4(SLX4):c.1302G>T (p.Pro434=)
|
|
|
|
NM_032444.4(SLX4):c.1320G>T (p.Ala440=)
|
|
|
|
NM_032444.4(SLX4):c.1322T>A (p.Leu441His)
|
rs2040681820
|
|
|
NM_032444.4(SLX4):c.1322T>C (p.Leu441Pro)
|
|
|
|
NM_032444.4(SLX4):c.1326G>A (p.Arg442=)
|
|
|
|
NM_032444.4(SLX4):c.1334G>A (p.Ser445Asn)
|
rs2151131780
|
|
|
NM_032444.4(SLX4):c.1352T>A (p.Ile451Lys)
|
rs1380174760
|
|
|
NM_032444.4(SLX4):c.1366+10A>T
|
|
|
|
NM_032444.4(SLX4):c.1366+16A>T
|
|
|
|
NM_032444.4(SLX4):c.1366+4T>C
|
|
|
|
NM_032444.4(SLX4):c.1366+6T>C
|
rs756854257
|
|
|
NM_032444.4(SLX4):c.1367-14T>C
|
rs2151131642
|
|
|
NM_032444.4(SLX4):c.1367-17C>T
|
|
|
|
NM_032444.4(SLX4):c.1367-7T>C
|
rs2040679730
|
|
|
NM_032444.4(SLX4):c.1373A>G (p.Lys458Arg)
|
|
|
|
NM_032444.4(SLX4):c.1379G>T (p.Arg460Leu)
|
rs369994733
|
|
|
NM_032444.4(SLX4):c.1390C>A (p.Pro464Thr)
|
rs2040679198
|
|
|
NM_032444.4(SLX4):c.1395G>A (p.Pro465=)
|
rs569518866
|
|
|
NM_032444.4(SLX4):c.1396G>A (p.Val466Ile)
|
|
|
|
NM_032444.4(SLX4):c.139T>G (p.Ser47Ala)
|
|
|
|
NM_032444.4(SLX4):c.1400C>A (p.Ser467Tyr)
|
|
|
|
NM_032444.4(SLX4):c.1400C>T (p.Ser467Phe)
|
|
|
|
NM_032444.4(SLX4):c.1404C>A (p.Pro468=)
|
|
|
|
NM_032444.4(SLX4):c.1404C>T (p.Pro468=)
|
|
|
|
NM_032444.4(SLX4):c.1405C>A (p.Pro469Thr)
|
rs763833617
|
|
|
NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser)
|
rs763833617
|
|
|
NM_032444.4(SLX4):c.1406dup (p.Leu470fs)
|
|
|
|
NM_032444.4(SLX4):c.1421A>G (p.Gln474Arg)
|
|
|
|
NM_032444.4(SLX4):c.1438G>A (p.Gly480Ser)
|
rs2151131486
|
|
|
NM_032444.4(SLX4):c.1444C>G (p.Gln482Glu)
|
rs1567174047
|
|
|
NM_032444.4(SLX4):c.1448T>C (p.Ile483Thr)
|
|
|
|
NM_032444.4(SLX4):c.1450G>A (p.Glu484Lys)
|
|
|
|
NM_032444.4(SLX4):c.1475C>G (p.Ser492Cys)
|
|
|
|
NM_032444.4(SLX4):c.1488A>G (p.Glu496=)
|
rs1596527585
|
|
|
NM_032444.4(SLX4):c.1498A>C (p.Thr500Pro)
|
|
|
|
NM_032444.4(SLX4):c.1499C>A (p.Thr500Lys)
|
|
|
|
NM_032444.4(SLX4):c.1507C>T (p.Leu503Phe)
|
|
|
|
NM_032444.4(SLX4):c.1511C>G (p.Pro504Arg)
|
rs569591337
|
|
|
NM_032444.4(SLX4):c.1521G>A (p.Arg507=)
|
|
|
|
NM_032444.4(SLX4):c.1533del (p.Trp513fs)
|
|
|
|
NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
|
|
|
|
NM_032444.4(SLX4):c.1545A>G (p.Arg515=)
|
|
|
|
NM_032444.4(SLX4):c.1546G>T (p.Ala516Ser)
|
rs1260563876
|
|
|
NM_032444.4(SLX4):c.1548G>A (p.Ala516=)
|
|
|
|
NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp)
|
rs772562892
|
|
|
NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)
|
|
|
|
NM_032444.4(SLX4):c.1553A>G (p.Gln518Arg)
|
|
|
|
NM_032444.4(SLX4):c.1557TCC[2] (p.Pro523del)
|
rs761510940
|
|
|
NM_032444.4(SLX4):c.1559C>G (p.Pro520Arg)
|
|
|
|
NM_032444.4(SLX4):c.1568C>G (p.Pro523Arg)
|
rs2040675640
|
|
|
NM_032444.4(SLX4):c.1569T>C (p.Pro523=)
|
rs2151131241
|
|
|
NM_032444.4(SLX4):c.1571A>T (p.Glu524Val)
|
|
|
|
NM_032444.4(SLX4):c.1572A>G (p.Glu524=)
|
|
|
|
NM_032444.4(SLX4):c.1594G>A (p.Glu532Lys)
|
rs2040675047
|
|
|
NM_032444.4(SLX4):c.1596G>A (p.Glu532=)
|
rs2151131185
|
|
|
NM_032444.4(SLX4):c.1596G>C (p.Glu532Asp)
|
rs2151131185
|
|
|
NM_032444.4(SLX4):c.1598G>T (p.Gly533Val)
|
rs369243098
|
|
|
NM_032444.4(SLX4):c.1615G>A (p.Ala539Thr)
|
rs772612094
|
|
|
NM_032444.4(SLX4):c.1629_1630delinsAC (p.Asp544His)
|
rs2040674138
|
|
|
NM_032444.4(SLX4):c.1641G>C (p.Thr547=)
|
|
|
|
NM_032444.4(SLX4):c.1643C>G (p.Ala548Gly)
|
|
|
|
NM_032444.4(SLX4):c.1644C>T (p.Ala548=)
|
|
|
|
NM_032444.4(SLX4):c.1646G>C (p.Arg549Thr)
|
|
|
|
NM_032444.4(SLX4):c.1655C>T (p.Pro552Leu)
|
|
|
|
NM_032444.4(SLX4):c.1656T>G (p.Pro552=)
|
rs1596527364
|
|
|
NM_032444.4(SLX4):c.1663G>A (p.Val555Met)
|
rs763869769
|
|
|
NM_032444.4(SLX4):c.1672C>A (p.Arg558=)
|
rs372264472
|
|
|
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)
|
rs372264472
|
|
|
NM_032444.4(SLX4):c.1673G>T (p.Arg558Leu)
|
|
|
|
NM_032444.4(SLX4):c.1683+20C>T
|
rs776626195
|
|
|
NM_032444.4(SLX4):c.1683+7C>T
|
rs1489386420
|
|
|
NM_032444.4(SLX4):c.1683+9C>T
|
rs1242929879
|
|
|
NM_032444.4(SLX4):c.1684-11G>A
|
|
|
|
NM_032444.4(SLX4):c.1684-12G>T
|
|
|
|
NM_032444.4(SLX4):c.1684-18C>T
|
|
|
|
NM_032444.4(SLX4):c.1684-1G>A
|
|
|
|
NM_032444.4(SLX4):c.1684-2A>C
|
|
|
|
NM_032444.4(SLX4):c.1692G>A (p.Met564Ile)
|
rs2151130279
|
|
|
NM_032444.4(SLX4):c.16A>T (p.Asn6Tyr)
|
rs1420004804
|
|
|
NM_032444.4(SLX4):c.1705C>T (p.Pro569Ser)
|
|
|
|
NM_032444.4(SLX4):c.1720C>G (p.Pro574Ala)
|
rs2040659325
|
|
|
NM_032444.4(SLX4):c.1731dup (p.Glu578fs)
|
|
|
|
NM_032444.4(SLX4):c.1738A>G (p.Ser580Gly)
|
|
|
|
NM_032444.4(SLX4):c.1743G>A (p.Glu581=)
|
|
|
|
NM_032444.4(SLX4):c.1748G>A (p.Arg583Lys)
|
rs750768695
|
|
|
NM_032444.4(SLX4):c.1748G>C (p.Arg583Thr)
|
|
|
|
NM_032444.4(SLX4):c.1755C>A (p.Pro585=)
|
rs114016359
|
|
|
NM_032444.4(SLX4):c.1759C>T (p.Leu587Phe)
|
|
|
|
NM_032444.4(SLX4):c.1766G>T (p.Gly589Val)
|
|
|
|
NM_032444.4(SLX4):c.1790C>G (p.Ser597Cys)
|
|
|
|
NM_032444.4(SLX4):c.1796G>A (p.Gly599Asp)
|
|
|
|
NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln)
|
rs749277750
|
|
|
NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu)
|
rs749277750
|
|
|
NM_032444.4(SLX4):c.1800G>A (p.Pro600=)
|
rs777829533
|
|
|
NM_032444.4(SLX4):c.1808C>G (p.Ser603Trp)
|
|
|
|
NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)
|
|
|
|
NM_032444.4(SLX4):c.1824G>T (p.Glu608Asp)
|
rs1028896815
|
|
|
NM_032444.4(SLX4):c.183G>A (p.Arg61=)
|
rs2040815577
|
|
|
NM_032444.4(SLX4):c.1844T>C (p.Leu615Pro)
|
|
|
|
NM_032444.4(SLX4):c.1851C>T (p.Asp617=)
|
rs754155444
|
|
|
NM_032444.4(SLX4):c.1857G>C (p.Ala619=)
|
rs375786206
|
|
|
NM_032444.4(SLX4):c.1860G>A (p.Arg620=)
|
|
|
|
NM_032444.4(SLX4):c.1868del (p.Leu623fs)
|
|
|
|
NM_032444.4(SLX4):c.186G>A (p.Val62=)
|
|
|
|
NM_032444.4(SLX4):c.1880C>T (p.Pro627Leu)
|
rs774683778
|
|
|
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)
|
rs1266198754
|
|
|
NM_032444.4(SLX4):c.1881G>T (p.Pro627=)
|
|
|
|
NM_032444.4(SLX4):c.1887C>A (p.Pro629=)
|
|
|
|
NM_032444.4(SLX4):c.1887C>T (p.Pro629=)
|
rs762862604
|
|
|
NM_032444.4(SLX4):c.1892G>C (p.Ser631Thr)
|
rs2151129871
|
|
|
NM_032444.4(SLX4):c.1893T>C (p.Ser631=)
|
|
|
|
NM_032444.4(SLX4):c.1893T>G (p.Ser631Arg)
|
|
|
|
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
|
rs1056085
|
|
|
NM_032444.4(SLX4):c.189A>G (p.Lys63=)
|
|
|
|
NM_032444.4(SLX4):c.1904C>A (p.Ala635Asp)
|
|
|
|
NM_032444.4(SLX4):c.1911G>A (p.Ser637=)
|
rs200013924
|
|
|
NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)
|
|
|
|
NM_032444.4(SLX4):c.1913A>C (p.Glu638Ala)
|
|
|
|
NM_032444.4(SLX4):c.1917G>A (p.Gly639=)
|
rs933524149
|
|
|
NM_032444.4(SLX4):c.1917G>T (p.Gly639=)
|
|
|
|
NM_032444.4(SLX4):c.1920T>C (p.Thr640=)
|
|
|
|
NM_032444.4(SLX4):c.1924+11G>T
|
rs2151129785
|
|
|
NM_032444.4(SLX4):c.1924+13G>C
|
|
|
|
NM_032444.4(SLX4):c.1924+8G>A
|
|
|
|
NM_032444.4(SLX4):c.1925-19C>T
|
|
|
|
NM_032444.4(SLX4):c.1925-3C>T
|
rs1567172965
|
|
|
NM_032444.4(SLX4):c.1925-4T>C
|
rs2040644472
|
|
|
NM_032444.4(SLX4):c.192A>C (p.Lys64Asn)
|
rs756720856
|
|
|
NM_032444.4(SLX4):c.1948C>T (p.Leu650Phe)
|
|
|
|
NM_032444.4(SLX4):c.1957_1960del (p.Thr653fs)
|
|
|
|
NM_032444.4(SLX4):c.1964T>C (p.Phe655Ser)
|
rs1567172921
|
|
|
NM_032444.4(SLX4):c.1969G>T (p.Val657Leu)
|
|
|
|
NM_032444.4(SLX4):c.1991C>A (p.Pro664Gln)
|
|
|
|
NM_032444.4(SLX4):c.1998G>A (p.Arg666=)
|
rs1596525936
|
|
|
NM_032444.4(SLX4):c.2001C>T (p.Gly667=)
|
|
|
|
NM_032444.4(SLX4):c.2002G>A (p.Gly668Ser)
|
|
|
|
NM_032444.4(SLX4):c.2004C>G (p.Gly668=)
|
|
|
|
NM_032444.4(SLX4):c.2013+18C>T
|
|
|
|
NM_032444.4(SLX4):c.2013+2T>C
|
|
|
|
NM_032444.4(SLX4):c.2013+5G>T
|
|
|
|
NM_032444.4(SLX4):c.2013+6A>C
|
rs2151129261
|
|
|
NM_032444.4(SLX4):c.2014-10C>T
|
|
|
|
NM_032444.4(SLX4):c.2014-10_2014-8del
|
rs759422070
|
|
|
NM_032444.4(SLX4):c.2014-15C>T
|
|
|
|
NM_032444.4(SLX4):c.2014-17C>T
|
|
|
|
NM_032444.4(SLX4):c.2014-3C>T
|
|
|
|
NM_032444.4(SLX4):c.2014C>T (p.Leu672Phe)
|
|
|
|
NM_032444.4(SLX4):c.2023G>C (p.Gly675Arg)
|
rs767473953
|
|
|
NM_032444.4(SLX4):c.2026C>T (p.Leu676=)
|
|
|
|
NM_032444.4(SLX4):c.2027T>C (p.Leu676Pro)
|
|
|
|
NM_032444.4(SLX4):c.202A>G (p.Lys68Glu)
|
|
|
|
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
|
|
|
|
NM_032444.4(SLX4):c.2045G>T (p.Gly682Val)
|
rs765804056
|
|
|
NM_032444.4(SLX4):c.2046C>A (p.Gly682=)
|
|
|
|
NM_032444.4(SLX4):c.2047G>C (p.Ala683Pro)
|
rs115866745
|
|
|
NM_032444.4(SLX4):c.2054T>G (p.Val685Gly)
|
|
|
|
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)
|
rs571330689
|
|
|
NM_032444.4(SLX4):c.2072G>A (p.Ser691Asn)
|
rs1596525216
|
|
|
NM_032444.4(SLX4):c.207A>G (p.Glu69=)
|
rs2040815069
|
|
|
NM_032444.4(SLX4):c.208G>C (p.Val70Leu)
|
|
|
|
NM_032444.4(SLX4):c.2091G>A (p.Thr697=)
|
|
|
|
NM_032444.4(SLX4):c.2093A>C (p.Asp698Ala)
|
|
|
|
NM_032444.4(SLX4):c.2117A>T (p.His706Leu)
|
rs2151128459
|
|
|
NM_032444.4(SLX4):c.2120A>G (p.Lys707Arg)
|
rs1555450869
|
|
|
NM_032444.4(SLX4):c.2139A>G (p.Arg713=)
|
rs2151128422
|
|
|
NM_032444.4(SLX4):c.2142C>T (p.Cys714=)
|
|
|
|
NM_032444.4(SLX4):c.2145G>A (p.Pro715=)
|
|
|
|
NM_032444.4(SLX4):c.2148C>T (p.Leu716=)
|
|
|
|
NM_032444.4(SLX4):c.2150T>C (p.Leu717Pro)
|
rs1596525067
|
|
|
NM_032444.4(SLX4):c.2160+11G>A
|
|
|
|
NM_032444.4(SLX4):c.2160+19G>A
|
rs759835803
|
|
|
NM_032444.4(SLX4):c.2160+8C>A
|
|
|
|
NM_032444.4(SLX4):c.2160+9G>A
|
|
|
|
NM_032444.4(SLX4):c.2160T>C (p.Tyr720=)
|
|
|
|
NM_032444.4(SLX4):c.2161-2A>T
|
rs2151127331
|
|
|
NM_032444.4(SLX4):c.2161-4G>T
|
|
|
|
NM_032444.4(SLX4):c.2161-6C>A
|
rs2151127337
|
|
|
NM_032444.4(SLX4):c.2175C>A (p.Gly725=)
|
rs1455889621
|
|
|
NM_032444.4(SLX4):c.2175C>T (p.Gly725=)
|
|
|
|
NM_032444.4(SLX4):c.2185G>A (p.Val729Ile)
|
|
|
|
NM_032444.4(SLX4):c.2190G>A (p.Glu730=)
|
|
|
|
NM_032444.4(SLX4):c.2191G>A (p.Asp731Asn)
|
|
|
|
NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg)
|
rs202189103
|
|
|
NM_032444.4(SLX4):c.2197G>C (p.Val733Leu)
|
rs1555450668
|
|
|
NM_032444.4(SLX4):c.2205C>T (p.Thr735=)
|
rs2151127266
|
|
|
NM_032444.4(SLX4):c.2209C>T (p.Arg737Cys)
|
rs140706384
|
|
|
NM_032444.4(SLX4):c.2217G>A (p.Leu739=)
|
rs1596523977
|
|
|
NM_032444.4(SLX4):c.2222G>A (p.Gly741Asp)
|
|
|
|
NM_032444.4(SLX4):c.2223T>A (p.Gly741=)
|
rs777278153
|
|
|
NM_032444.4(SLX4):c.2223T>G (p.Gly741=)
|
rs777278153
|
|
|
NM_032444.4(SLX4):c.2231G>A (p.Ser744Asn)
|
rs1307528536
|
|
|
NM_032444.4(SLX4):c.2246G>T (p.Arg749Leu)
|
|
|
|
NM_032444.4(SLX4):c.2250G>A (p.Thr750=)
|
|
|
|
NM_032444.4(SLX4):c.2251T>G (p.Phe751Val)
|
|
|
|
NM_032444.4(SLX4):c.2261A>G (p.Tyr754Cys)
|
rs771002901
|
|
|
NM_032444.4(SLX4):c.2264T>C (p.Leu755Pro)
|
|
|
|
NM_032444.4(SLX4):c.2278A>G (p.Thr760Ala)
|
rs2040607353
|
|
|
NM_032444.4(SLX4):c.230A>G (p.Gln77Arg)
|
|
|
|
NM_032444.4(SLX4):c.2327+10G>C
|
|
|
|
NM_032444.4(SLX4):c.2327+15C>T
|
|
|
|
NM_032444.4(SLX4):c.2328-10C>T
|
|
|
|
NM_032444.4(SLX4):c.2328-11T>C
|
rs1390856264
|
|
|
NM_032444.4(SLX4):c.2328-11T>G
|
|
|
|
NM_032444.4(SLX4):c.2328-17G>C
|
|
|
|
NM_032444.4(SLX4):c.2328-20G>A
|
|
|
|
NM_032444.4(SLX4):c.2328-9G>A
|
rs73505419
|
|
|
NM_032444.4(SLX4):c.2335G>C (p.Val779Leu)
|
rs768126392
|
|
|
NM_032444.4(SLX4):c.2347G>A (p.Val783Ile)
|
rs771580450
|
|
|
NM_032444.4(SLX4):c.2357G>A (p.Cys786Tyr)
|
rs1282868817
|
|
|
NM_032444.4(SLX4):c.2358C>T (p.Cys786=)
|
|
|
|
NM_032444.4(SLX4):c.2363A>G (p.Gln788Arg)
|
|
|
|
NM_032444.4(SLX4):c.2363A>T (p.Gln788Leu)
|
rs748659860
|
|
|
NM_032444.4(SLX4):c.2364G>A (p.Gln788=)
|
|
|
|
NM_032444.4(SLX4):c.2364G>C (p.Gln788His)
|
|
|
|
NM_032444.4(SLX4):c.2368C>T (p.Pro790Ser)
|
|
|
|
NM_032444.4(SLX4):c.2372T>G (p.Ile791Ser)
|
rs2040591427
|
|
|
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter)
|
rs2151126006
|
|
|
NM_032444.4(SLX4):c.2388G>A (p.Glu796=)
|
rs113965715
|
|
|
NM_032444.4(SLX4):c.2391C>A (p.Gly797=)
|
rs147208178
|
|
|
NM_032444.4(SLX4):c.2391C>T (p.Gly797=)
|
|
|
|
NM_032444.4(SLX4):c.2401GAG[1] (p.Glu802del)
|
rs2151125964
|
|
|
NM_032444.4(SLX4):c.2409G>A (p.Lys803=)
|
|
|
|
NM_032444.4(SLX4):c.2416G>C (p.Glu806Gln)
|
|
|
|
NM_032444.4(SLX4):c.2418G>T (p.Glu806Asp)
|
rs2151125944
|
|
|
NM_032444.4(SLX4):c.2430C>T (p.Ser810=)
|
|
|
|
NM_032444.4(SLX4):c.2435C>T (p.Ala812Val)
|
|
|
|
NM_032444.4(SLX4):c.2436C>G (p.Ala812=)
|
rs769330696
|
|
|
NM_032444.4(SLX4):c.2441A>G (p.Asn814Ser)
|
rs777299783
|
|
|
NM_032444.4(SLX4):c.2449del (p.Glu817fs)
|
rs1567170994
|
|
|
NM_032444.4(SLX4):c.2451A>C (p.Glu817Asp)
|
|
|
|
NM_032444.4(SLX4):c.2460G>A (p.Arg820=)
|
|
|
|
NM_032444.4(SLX4):c.2473G>T (p.Asp825Tyr)
|
|
|
|
NM_032444.4(SLX4):c.2478_2480del (p.Glu829del)
|
|
|
|
NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly)
|
rs1488400493
|
|
|
NM_032444.4(SLX4):c.2481G>A (p.Glu827=)
|
rs746049343
|
|
|
NM_032444.4(SLX4):c.248G>A (p.Gly83Asp)
|
|
|
|
NM_032444.4(SLX4):c.248G>C (p.Gly83Ala)
|
rs771698977
|
|
|
NM_032444.4(SLX4):c.2494A>G (p.Thr832Ala)
|
rs1345752601
|
|
|
NM_032444.4(SLX4):c.2510A>G (p.Lys837Arg)
|
rs2151125769
|
|
|
NM_032444.4(SLX4):c.2517C>G (p.His839Gln)
|
|
|
|
NM_032444.4(SLX4):c.2520AGA[1] (p.Glu841del)
|
rs2151125733
|
|
|
NM_032444.4(SLX4):c.2535C>A (p.Asn845Lys)
|
|
|
|
NM_032444.4(SLX4):c.2535C>T (p.Asn845=)
|
rs1174692641
|
|
|
NM_032444.4(SLX4):c.2536G>A (p.Val846Met)
|
|
|
|
NM_032444.4(SLX4):c.254A>G (p.Gln85Arg)
|
rs878855160
|
|
|
NM_032444.4(SLX4):c.2553G>A (p.Met851Ile)
|
rs2040587848
|
|
|
NM_032444.4(SLX4):c.255G>A (p.Gln85=)
|
|
|
|
NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)
|
|
|
|
NM_032444.4(SLX4):c.256A>T (p.Ile86Leu)
|
|
|
|
NM_032444.4(SLX4):c.2576C>G (p.Ala859Gly)
|
|
|
|
NM_032444.4(SLX4):c.2577T>C (p.Ala859=)
|
|
|
|
NM_032444.4(SLX4):c.2586A>G (p.Arg862=)
|
|
|
|
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del)
|
rs536289991
|
|
|
NM_032444.4(SLX4):c.2594_2595del (p.Leu865fs)
|
|
|
|
NM_032444.4(SLX4):c.2616T>C (p.Gly872=)
|
|
|
|
NM_032444.4(SLX4):c.2619C>T (p.Ala873=)
|
|
|
|
NM_032444.4(SLX4):c.2620G>C (p.Gly874Arg)
|
rs113420526
|
|
|
NM_032444.4(SLX4):c.2621G>T (p.Gly874Val)
|
|
|
|
NM_032444.4(SLX4):c.2622C>G (p.Gly874=)
|
rs1407514660
|
|
|
NM_032444.4(SLX4):c.2622C>T (p.Gly874=)
|
|
|
|
NM_032444.4(SLX4):c.2625G>A (p.Glu875=)
|
|
|
|
NM_032444.4(SLX4):c.2635_2636insA (p.Trp879Ter)
|
rs2151125489
|
|
|
NM_032444.4(SLX4):c.2637G>C (p.Trp879Cys)
|
rs1276786771
|
|
|
NM_032444.4(SLX4):c.264C>T (p.Ser88=)
|
|
|
|
NM_032444.4(SLX4):c.2650A>G (p.Ser884Gly)
|
|
|
|
NM_032444.4(SLX4):c.2666A>G (p.Gln889Arg)
|
|
|
|
NM_032444.4(SLX4):c.2670C>T (p.Leu890=)
|
|
|
|
NM_032444.4(SLX4):c.2675C>T (p.Ala892Val)
|
rs1368217140
|
|
|
NM_032444.4(SLX4):c.2706G>A (p.Lys902=)
|
rs764936885
|
|
|
NM_032444.4(SLX4):c.2706G>T (p.Lys902Asn)
|
|
|
|
NM_032444.4(SLX4):c.2709G>A (p.Val903=)
|
|
|
|
NM_032444.4(SLX4):c.2710GAG[1] (p.Glu905del)
|
rs1292828765
|
|
|
NM_032444.4(SLX4):c.2719G>C (p.Glu907Gln)
|
rs1408881754
|
|
|
NM_032444.4(SLX4):c.2720A>G (p.Glu907Gly)
|
|
|
|
NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp)
|
rs141450907
|
|
|
NM_032444.4(SLX4):c.2723C>T (p.Pro908Leu)
|
|
|
|
NM_032444.4(SLX4):c.2728G>C (p.Glu910Gln)
|
rs2151125290
|
|
|
NM_032444.4(SLX4):c.2730G>A (p.Glu910=)
|
|
|
|
NM_032444.4(SLX4):c.2731C>G (p.Pro911Ala)
|
rs2151125280
|
|
|
NM_032444.4(SLX4):c.2736A>G (p.Gly912=)
|
rs1162992846
|
|
|
NM_032444.4(SLX4):c.273A>G (p.Lys91=)
|
|
|
|
NM_032444.4(SLX4):c.2742T>C (p.Asp914=)
|
rs1060504342
|
|
|
NM_032444.4(SLX4):c.2742T>G (p.Asp914Glu)
|
rs1060504342
|
|
|
NM_032444.4(SLX4):c.2746GCC[3] (p.Ala917dup)
|
rs2151125227
|
|
|
NM_032444.4(SLX4):c.2747C>T (p.Ala916Val)
|
rs2151125242
|
|
|
NM_032444.4(SLX4):c.2748C>G (p.Ala916=)
|
|
|
|
NM_032444.4(SLX4):c.2748C>T (p.Ala916=)
|
rs374815885
|
|
|
NM_032444.4(SLX4):c.2757C>A (p.Thr919=)
|
rs2151125207
|
|
|
NM_032444.4(SLX4):c.2766G>T (p.Lys922Asn)
|
|
|
|
NM_032444.4(SLX4):c.2775G>A (p.Gln925=)
|
|
|
|
NM_032444.4(SLX4):c.2777G>A (p.Cys926Tyr)
|
|
|
|
NM_032444.4(SLX4):c.2789C>G (p.Pro930Arg)
|
|
|
|
NM_032444.4(SLX4):c.278C>T (p.Thr93Ile)
|
rs2151139524
|
|
|
NM_032444.4(SLX4):c.2793_2805del (p.Gln934fs)
|
|
|
|
NM_032444.4(SLX4):c.2800del (p.Gln934fs)
|
|
|
|
NM_032444.4(SLX4):c.2808A>G (p.Ser936=)
|
rs762090546
|
|
|
NM_032444.4(SLX4):c.2808A>T (p.Ser936=)
|
|
|
|
NM_032444.4(SLX4):c.2812G>C (p.Ala938Pro)
|
rs2151125038
|
|
|
NM_032444.4(SLX4):c.2815C>T (p.Arg939Trp)
|
|
|
|
NM_032444.4(SLX4):c.2816G>C (p.Arg939Pro)
|
rs768474876
|
|
|
NM_032444.4(SLX4):c.2820A>G (p.Gly940=)
|
rs2151125020
|
|
|
NM_032444.4(SLX4):c.2821G>A (p.Ala941Thr)
|
|
|
|
NM_032444.4(SLX4):c.2825A>T (p.Glu942Val)
|
rs2040579815
|
|
|
NM_032444.4(SLX4):c.2826G>A (p.Glu942=)
|
rs2040579766
|
|
|
NM_032444.4(SLX4):c.2827G>A (p.Ala943Thr)
|
|
|
|
NM_032444.4(SLX4):c.2833G>A (p.Glu945Lys)
|
|
|
|
NM_032444.4(SLX4):c.2835G>C (p.Glu945Asp)
|
rs2040579474
|
|
|
NM_032444.4(SLX4):c.2846C>T (p.Pro949Leu)
|
|
|
|
NM_032444.4(SLX4):c.2851G>A (p.Glu951Lys)
|
rs1555450353
|
|
|
NM_032444.4(SLX4):c.2854_2855delinsAT (p.Ala952Met)
|
rs863224277
|
|
|
NM_032444.4(SLX4):c.2854_2856delinsATA (p.Ala952Ile)
|
rs2040578747
|
|
|
NM_032444.4(SLX4):c.2857C>G (p.Leu953Val)
|
rs1185482904
|
|
|
NM_032444.4(SLX4):c.2860G>A (p.Gly954Ser)
|
|
|
|
NM_032444.4(SLX4):c.2877C>T (p.Ser959=)
|
|
|
|
NM_032444.4(SLX4):c.2881C>A (p.Pro961Thr)
|
rs2151124871
|
|
|
NM_032444.4(SLX4):c.289G>A (p.Ala97Thr)
|
rs2040813930
|
|
|
NM_032444.4(SLX4):c.2901A>C (p.Ala967=)
|
|
|
|
NM_032444.4(SLX4):c.2912_2913delinsGC (p.Glu971Gly)
|
rs2151124807
|
|
|
NM_032444.4(SLX4):c.2914G>A (p.Gly972Ser)
|
|
|
|
NM_032444.4(SLX4):c.2915G>A (p.Gly972Asp)
|
rs2151124801
|
|
|
NM_032444.4(SLX4):c.2919T>C (p.Ser973=)
|
rs2151124792
|
|
|
NM_032444.4(SLX4):c.2927A>G (p.His976Arg)
|
rs141294497
|
|
|
NM_032444.4(SLX4):c.2943G>T (p.Gly981=)
|
|
|
|
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr)
|
rs753733757
|
|
|
NM_032444.4(SLX4):c.2961C>T (p.Phe987=)
|
|
|
|
NM_032444.4(SLX4):c.2972A>G (p.Gln991Arg)
|
|
|
|
NM_032444.4(SLX4):c.2974_2977del (p.Gly992fs)
|
rs2151124655
|
|
|
NM_032444.4(SLX4):c.2978A>G (p.Glu993Gly)
|
rs759599459
|
|
|
NM_032444.4(SLX4):c.2993C>T (p.Ser998Phe)
|
|
|
|
NM_032444.4(SLX4):c.299C>A (p.Thr100Asn)
|
rs201163062
|
|
|
NM_032444.4(SLX4):c.3001A>G (p.Thr1001Ala)
|
rs769494671
|
|
|
NM_032444.4(SLX4):c.3002C>T (p.Thr1001Ile)
|
|
|
|
NM_032444.4(SLX4):c.3013G>A (p.Glu1005Lys)
|
rs746178364
|
|
|
NM_032444.4(SLX4):c.3018A>G (p.Glu1006=)
|
rs1596522113
|
|
|
NM_032444.4(SLX4):c.3033C>T (p.Val1011=)
|
rs867272668
|
|
|
NM_032444.4(SLX4):c.3034A>G (p.Arg1012Gly)
|
|
|
|
NM_032444.4(SLX4):c.3044G>A (p.Gly1015Glu)
|
rs2151124497
|
|
|
NM_032444.4(SLX4):c.3045G>A (p.Gly1015=)
|
rs1334575564
|
|
|
NM_032444.4(SLX4):c.3046C>T (p.Leu1016=)
|
rs141412644
|
|
|
NM_032444.4(SLX4):c.3049G>A (p.Glu1017Lys)
|
|
|
|
NM_032444.4(SLX4):c.3051G>A (p.Glu1017=)
|
rs1306302241
|
|
|
NM_032444.4(SLX4):c.3052G>A (p.Val1018Ile)
|
rs948861318
|
|
|
NM_032444.4(SLX4):c.3059A>G (p.His1020Arg)
|
rs2151124446
|
|
|
NM_032444.4(SLX4):c.3062G>A (p.Arg1021His)
|
|
|
|
NM_032444.4(SLX4):c.306C>G (p.Thr102=)
|
rs752275926
|
|
|
NM_032444.4(SLX4):c.3073T>C (p.Trp1025Arg)
|
|
|
|
NM_032444.4(SLX4):c.3079G>T (p.Ala1027Ser)
|
|
|
|
NM_032444.4(SLX4):c.307del (p.Leu103fs)
|
|
|
|
NM_032444.4(SLX4):c.3081A>T (p.Ala1027=)
|
rs2151124384
|
|
|
NM_032444.4(SLX4):c.3087A>G (p.Pro1029=)
|
|
|
|
NM_032444.4(SLX4):c.3090G>T (p.Pro1030=)
|
rs771531829
|
|
|
NM_032444.4(SLX4):c.3101G>T (p.Arg1034Leu)
|
|
|
|
NM_032444.4(SLX4):c.3126C>T (p.Gly1042=)
|
|
|
|
NM_032444.4(SLX4):c.312A>C (p.Gln104His)
|
|
|
|
NM_032444.4(SLX4):c.3142T>A (p.Ser1048Thr)
|
|
|
|
NM_032444.4(SLX4):c.3144_3148del (p.His1050fs)
|
|
|
|
NM_032444.4(SLX4):c.3157G>A (p.Gly1053Arg)
|
|
|
|
NM_032444.4(SLX4):c.3159G>C (p.Gly1053=)
|
rs1344092780
|
|
|
NM_032444.4(SLX4):c.315C>T (p.Gly105=)
|
rs558641534
|
|
|
NM_032444.4(SLX4):c.3161C>T (p.Ser1054Leu)
|
|
|
|
NM_032444.4(SLX4):c.3162G>C (p.Ser1054=)
|
rs76488917
|
|
|
NM_032444.4(SLX4):c.3174A>G (p.Thr1058=)
|
rs780024295
|
|
|
NM_032444.4(SLX4):c.3179G>C (p.Arg1060Pro)
|
rs199994766
|
|
|
NM_032444.4(SLX4):c.317C>T (p.Pro106Leu)
|
rs2151139456
|
|
|
NM_032444.4(SLX4):c.3180G>A (p.Arg1060=)
|
rs747169328
|
|
|
NM_032444.4(SLX4):c.3180G>C (p.Arg1060=)
|
rs747169328
|
|
|
NM_032444.4(SLX4):c.3182C>T (p.Ser1061Phe)
|
rs2151124127
|
|
|
NM_032444.4(SLX4):c.3185G>A (p.Arg1062His)
|
|
|
|
NM_032444.4(SLX4):c.3191G>T (p.Gly1064Val)
|
|
|
|
NM_032444.4(SLX4):c.3200A>G (p.Gln1067Arg)
|
rs2040570986
|
|
|
NM_032444.4(SLX4):c.3209C>G (p.Ser1070Cys)
|
rs2040570774
|
|
|
NM_032444.4(SLX4):c.320C>T (p.Ala107Val)
|
rs2040813512
|
|
|
NM_032444.4(SLX4):c.3214A>G (p.Thr1072Ala)
|
|
|
|
NM_032444.4(SLX4):c.3215C>T (p.Thr1072Ile)
|
|
|
|
NM_032444.4(SLX4):c.3224C>T (p.Ser1075Phe)
|
rs147558074
|
|
|
NM_032444.4(SLX4):c.3226C>A (p.Pro1076Thr)
|
rs2151124007
|
|
|
NM_032444.4(SLX4):c.3226C>G (p.Pro1076Ala)
|
rs2151124007
|
|
|
NM_032444.4(SLX4):c.3237A>G (p.Pro1079=)
|
|
|
|
NM_032444.4(SLX4):c.3237A>T (p.Pro1079=)
|
rs145055283
|
|
|
NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter)
|
rs2151123968
|
|
|
NM_032444.4(SLX4):c.3251G>C (p.Arg1084Thr)
|
|
|
|
NM_032444.4(SLX4):c.3254A>G (p.Asp1085Gly)
|
|
|
|
NM_032444.4(SLX4):c.3263T>C (p.Ile1088Thr)
|
|
|
|
NM_032444.4(SLX4):c.3268A>G (p.Thr1090Ala)
|
|
|
|
NM_032444.4(SLX4):c.3270G>A (p.Thr1090=)
|
|
|
|
NM_032444.4(SLX4):c.3282del (p.Glu1094fs)
|
rs2151123906
|
|
|
NM_032444.4(SLX4):c.3306G>A (p.Glu1102=)
|
rs2151123871
|
|
|
NM_032444.4(SLX4):c.3311G>A (p.Arg1104Gln)
|
|
|
|
NM_032444.4(SLX4):c.3313T>A (p.Ser1105Thr)
|
rs2151123849
|
|
|
NM_032444.4(SLX4):c.3319C>T (p.Leu1107=)
|
|
|
|
NM_032444.4(SLX4):c.3326G>A (p.Cys1109Tyr)
|
|
|
|
NM_032444.4(SLX4):c.332C>T (p.Pro111Leu)
|
rs765630089
|
|
|
NM_032444.4(SLX4):c.3334A>C (p.Lys1112Gln)
|
rs570382990
|
|
|
NM_032444.4(SLX4):c.3334A>G (p.Lys1112Glu)
|
rs570382990
|
|
|
NM_032444.4(SLX4):c.3337G>C (p.Gly1113Arg)
|
rs772246820
|
|
|
NM_032444.4(SLX4):c.3338_3340del (p.Gly1113del)
|
rs2151123784
|
|
|
NM_032444.4(SLX4):c.3344T>C (p.Leu1115Pro)
|
rs2040568630
|
|
|
NM_032444.4(SLX4):c.3345G>A (p.Leu1115=)
|
rs374238222
|
|
|
NM_032444.4(SLX4):c.3350T>A (p.Phe1117Tyr)
|
rs1596521648
|
|
|
NM_032444.4(SLX4):c.3353C>T (p.Pro1118Leu)
|
rs1567170196
|
|
|
NM_032444.4(SLX4):c.3360A>G (p.Lys1120=)
|
|
|
|
NM_032444.4(SLX4):c.3361T>C (p.Ser1121Pro)
|
|
|
|
NM_032444.4(SLX4):c.3362C>T (p.Ser1121Phe)
|
rs1060501792
|
|
|
NM_032444.4(SLX4):c.3364C>G (p.Pro1122Ala)
|
|
|
|
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=)
|
rs752209638
|
|
|
NM_032444.4(SLX4):c.336G>T (p.Pro112=)
|
|
|
|
NM_032444.4(SLX4):c.3370A>T (p.Ile1124Phe)
|
|
|
|
NM_032444.4(SLX4):c.3373G>A (p.Asp1125Asn)
|
|
|
|
NM_032444.4(SLX4):c.3380C>T (p.Thr1127Ile)
|
|
|
|
NM_032444.4(SLX4):c.3383A>C (p.Gln1128Pro)
|
|
|
|
NM_032444.4(SLX4):c.3398A>G (p.His1133Arg)
|
|
|
|
NM_032444.4(SLX4):c.3399T>C (p.His1133=)
|
|
|
|
NM_032444.4(SLX4):c.33C>T (p.Gly11=)
|
rs1274120704
|
|
|
NM_032444.4(SLX4):c.3401C>T (p.Ser1134Leu)
|
rs1433489753
|
|
|
NM_032444.4(SLX4):c.3405C>A (p.Ser1135Arg)
|
|
|
|
NM_032444.4(SLX4):c.3416A>G (p.Gln1139Arg)
|
rs2151123634
|
|
|
NM_032444.4(SLX4):c.3420A>G (p.Lys1140=)
|
|
|
|
NM_032444.4(SLX4):c.3423T>C (p.Ser1141=)
|
rs1596521552
|
|
|
NM_032444.4(SLX4):c.3424T>C (p.Ser1142Pro)
|
rs1400414235
|
|
|
NM_032444.4(SLX4):c.3425C>T (p.Ser1142Leu)
|
rs967412461
|
|
|
NM_032444.4(SLX4):c.3427T>G (p.Ser1143Ala)
|
rs1567170136
|
|
|
NM_032444.4(SLX4):c.342C>G (p.Gly114=)
|
|
|
|
NM_032444.4(SLX4):c.3434T>C (p.Leu1145Pro)
|
rs759560028
|
|
|
NM_032444.4(SLX4):c.3438C>A (p.Asn1146Lys)
|
|
|
|
NM_032444.4(SLX4):c.343A>C (p.Ser115Arg)
|
rs959148678
|
|
|
NM_032444.4(SLX4):c.3441A>G (p.Glu1147=)
|
|
|
|
NM_032444.4(SLX4):c.3441AGA[1] (p.Glu1148del)
|
|
|
|
NM_032444.4(SLX4):c.3442G>C (p.Glu1148Gln)
|
|
|
|
NM_032444.4(SLX4):c.3444A>C (p.Glu1148Asp)
|
rs771079071
|
|
|
NM_032444.4(SLX4):c.3444A>T (p.Glu1148Asp)
|
rs771079071
|
|
|
NM_032444.4(SLX4):c.3446A>G (p.Asp1149Gly)
|
rs2040566610
|
|
|
NM_032444.4(SLX4):c.3451G>A (p.Val1151Ile)
|
rs1060501796
|
|
|
NM_032444.4(SLX4):c.345C>T (p.Ser115=)
|
rs1442020030
|
|
|
NM_032444.4(SLX4):c.3475G>A (p.Glu1159Lys)
|
|
|
|
NM_032444.4(SLX4):c.3477G>C (p.Glu1159Asp)
|
rs1349173708
|
|
|
NM_032444.4(SLX4):c.3480G>A (p.Glu1160=)
|
|
|
|
NM_032444.4(SLX4):c.3492A>C (p.Glu1164Asp)
|
rs1324916025
|
|
|
NM_032444.4(SLX4):c.3497C>A (p.Thr1166Asn)
|
|
|
|
NM_032444.4(SLX4):c.349G>A (p.Ala117Thr)
|
|
|
|
NM_032444.4(SLX4):c.3502A>G (p.Met1168Val)
|
|
|
|
NM_032444.4(SLX4):c.3506A>C (p.Lys1169Thr)
|
|
|
|
NM_032444.4(SLX4):c.3522T>A (p.Asp1174Glu)
|
rs2151123437
|
|
|
NM_032444.4(SLX4):c.3528G>A (p.Leu1176=)
|
|
|
|
NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)
|
|
|
|
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala)
|
rs1264184614
|
|
|
NM_032444.4(SLX4):c.354T>C (p.Pro118=)
|
|
|
|
NM_032444.4(SLX4):c.3555C>T (p.Ser1185=)
|
|
|
|
NM_032444.4(SLX4):c.3561G>A (p.Arg1187=)
|
rs2151123357
|
|
|
NM_032444.4(SLX4):c.3571C>T (p.Leu1191=)
|
|
|
|
NM_032444.4(SLX4):c.3573G>C (p.Leu1191=)
|
|
|
|
NM_032444.4(SLX4):c.3582C>A (p.Ile1194=)
|
|
|
|
NM_032444.4(SLX4):c.3584T>C (p.Ile1195Thr)
|
rs757575928
|
|
|
NM_032444.4(SLX4):c.358A>G (p.Thr120Ala)
|
rs1003342051
|
|
|
NM_032444.4(SLX4):c.3599A>T (p.Asp1200Val)
|
rs1165195894
|
|
|
NM_032444.4(SLX4):c.3600T>C (p.Asp1200=)
|
|
|
|
NM_032444.4(SLX4):c.3607C>A (p.Pro1203Thr)
|
rs745508761
|
|
|
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala)
|
rs745508761
|
|
|
NM_032444.4(SLX4):c.3619_3643del (p.Pro1207fs)
|
rs1440022090
|
|
|
NM_032444.4(SLX4):c.3623C>T (p.Pro1208Leu)
|
|
|
|
NM_032444.4(SLX4):c.3626G>A (p.Arg1209Lys)
|
|
|
|
NM_032444.4(SLX4):c.3630C>T (p.Ser1210=)
|
rs1567169951
|
|
|
NM_032444.4(SLX4):c.363_365del (p.Lys122del)
|
rs2151139354
|
|
|
NM_032444.4(SLX4):c.3640C>T (p.Leu1214=)
|
|
|
|
NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)
|
|
|
|
NM_032444.4(SLX4):c.3651G>A (p.Glu1217=)
|
|
|
|
NM_032444.4(SLX4):c.3658G>A (p.Gly1220Arg)
|
rs1160985971
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NM_032444.4(SLX4):c.3661_3662delinsTT (p.Ala1221Leu)
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NM_032444.4(SLX4):c.3666G>A (p.Leu1222=)
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rs2151123132
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NM_032444.4(SLX4):c.366G>A (p.Lys122=)
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rs149626570
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NM_032444.4(SLX4):c.366G>C (p.Lys122Asn)
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rs149626570
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NM_032444.4(SLX4):c.3670G>C (p.Glu1224Gln)
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rs2151123121
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NM_032444.4(SLX4):c.3678G>C (p.Arg1226=)
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NM_032444.4(SLX4):c.3681C>T (p.Gly1227=)
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NM_032444.4(SLX4):c.3686T>C (p.Leu1229Ser)
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NM_032444.4(SLX4):c.3700G>T (p.Ala1234Ser)
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rs1555450127
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NM_032444.4(SLX4):c.370A>G (p.Arg124Gly)
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NM_032444.4(SLX4):c.3711G>C (p.Leu1237=)
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NM_032444.4(SLX4):c.3715T>C (p.Cys1239Arg)
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rs2151122998
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NM_032444.4(SLX4):c.3720C>T (p.Asp1240=)
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NM_032444.4(SLX4):c.3722G>C (p.Arg1241Pro)
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NM_032444.4(SLX4):c.3724G>A (p.Glu1242Lys)
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NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter)
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rs770687847
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NM_032444.4(SLX4):c.3726G>A (p.Glu1242=)
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rs2040561177
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NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs)
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rs878855162
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NM_032444.4(SLX4):c.3727A>G (p.Ser1243Gly)
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NM_032444.4(SLX4):c.3728G>A (p.Ser1243Asn)
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NM_032444.4(SLX4):c.3731del (p.Ser1244fs)
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NM_032444.4(SLX4):c.3734C>T (p.Pro1245Leu)
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NM_032444.4(SLX4):c.3739G>C (p.Glu1247Gln)
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NM_032444.4(SLX4):c.3743C>T (p.Ala1248Val)
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NM_032444.4(SLX4):c.374T>C (p.Val125Ala)
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NM_032444.4(SLX4):c.3751A>G (p.Thr1251Ala)
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rs1596521026
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NM_032444.4(SLX4):c.3768G>A (p.Leu1256=)
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rs757548615
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NM_032444.4(SLX4):c.3773C>G (p.Pro1258Arg)
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NM_032444.4(SLX4):c.3783G>T (p.Pro1261=)
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rs77699867
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NM_032444.4(SLX4):c.3784C>G (p.Leu1262Val)
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NM_032444.4(SLX4):c.3786G>A (p.Leu1262=)
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rs1555450110
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NM_032444.4(SLX4):c.3807T>C (p.Cys1269=)
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NM_032444.4(SLX4):c.380A>T (p.Lys127Ile)
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NM_032444.4(SLX4):c.3825C>T (p.Ile1275=)
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NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn)
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rs1596520868
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NM_032444.4(SLX4):c.3832C>T (p.Leu1278Phe)
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rs2151122691
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NM_032444.4(SLX4):c.383G>A (p.Trp128Ter)
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rs1193906930
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NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu)
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rs766299864
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NM_032444.4(SLX4):c.3848C>T (p.Ala1283Val)
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rs140103960
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NM_032444.4(SLX4):c.3849C>G (p.Ala1283=)
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rs200928592
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NM_032444.4(SLX4):c.3849C>T (p.Ala1283=)
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rs200928592
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NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu)
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rs373107728
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NM_032444.4(SLX4):c.3852G>A (p.Val1284=)
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rs2151122647
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NM_032444.4(SLX4):c.3856G>A (p.Ala1286Thr)
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NM_032444.4(SLX4):c.3863C>G (p.Thr1288Ser)
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rs1060501799
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NM_032444.4(SLX4):c.3866A>G (p.Gln1289Arg)
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NM_032444.4(SLX4):c.3868C>T (p.His1290Tyr)
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rs112596894
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NM_032444.4(SLX4):c.388G>A (p.Ala130Thr)
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rs2040812493
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NM_032444.4(SLX4):c.3890G>A (p.Gly1297Glu)
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NM_032444.4(SLX4):c.38A>G (p.Tyr13Cys)
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NM_032444.4(SLX4):c.3900A>G (p.Glu1300=)
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rs1060504341
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NM_032444.4(SLX4):c.3902G>T (p.Gly1301Val)
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rs1307466531
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NM_032444.4(SLX4):c.3903G>T (p.Gly1301=)
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rs753464234
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NM_032444.4(SLX4):c.3906del (p.Asn1302fs)
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NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter)
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rs2040557100
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NM_032444.4(SLX4):c.3918G>T (p.Gln1306His)
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NM_032444.4(SLX4):c.3919_3921del (p.Lys1307del)
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rs775548839
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NM_032444.4(SLX4):c.392G>A (p.Ser131Asn)
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rs2040812388
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NM_032444.4(SLX4):c.3934A>G (p.Arg1312Gly)
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NM_032444.4(SLX4):c.3939C>G (p.Pro1313=)
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NM_032444.4(SLX4):c.3939C>T (p.Pro1313=)
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NM_032444.4(SLX4):c.3946C>A (p.Pro1316Thr)
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NM_032444.4(SLX4):c.3948_3962dup (p.Pro1317_Pro1321dup)
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rs1302525912
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NM_032444.4(SLX4):c.3952C>T (p.Pro1318Ser)
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NM_032444.4(SLX4):c.3952_3963del (p.Pro1318_Pro1321del)
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rs771773313
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NM_032444.4(SLX4):c.3954C>G (p.Pro1318=)
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NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)
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rs2040556390
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NM_032444.4(SLX4):c.3958A>T (p.Thr1320Ser)
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rs1060501797
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NM_032444.4(SLX4):c.3960A>G (p.Thr1320=)
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NM_032444.4(SLX4):c.3961_3962dup (p.Ser1322fs)
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NM_032444.4(SLX4):c.3965C>T (p.Ser1322Phe)
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NM_032444.4(SLX4):c.3970T>G (p.Cys1324Gly)
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NM_032444.4(SLX4):c.3973C>G (p.Leu1325Val)
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rs2151122362
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NM_032444.4(SLX4):c.3973C>T (p.Leu1325Phe)
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NM_032444.4(SLX4):c.3983_4115del (p.Val1328fs)
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rs2151122078
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NM_032444.4(SLX4):c.3990A>C (p.Pro1330=)
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rs2151122324
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NM_032444.4(SLX4):c.399G>A (p.Pro133=)
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NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)
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NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu)
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rs201826765
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NM_032444.4(SLX4):c.4003G>A (p.Gly1335Ser)
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rs367562934
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NM_032444.4(SLX4):c.4003G>T (p.Gly1335Cys)
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rs367562934
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NM_032444.4(SLX4):c.4004G>T (p.Gly1335Val)
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NM_032444.4(SLX4):c.4011G>A (p.Arg1337=)
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rs1487018930
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NM_032444.4(SLX4):c.4013A>G (p.Gln1338Arg)
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rs2040554954
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NM_032444.4(SLX4):c.4016G>A (p.Gly1339Asp)
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rs2040554845
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NM_032444.4(SLX4):c.4024del (p.Ser1342fs)
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NM_032444.4(SLX4):c.4036C>T (p.Pro1346Ser)
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rs2040554159
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NM_032444.4(SLX4):c.4044C>T (p.Pro1348=)
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rs1332165366
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NM_032444.4(SLX4):c.4044_4045insCAGCGGAGA (p.Pro1348_Gly1349insGlnArgArg)
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rs2151122205
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NM_032444.4(SLX4):c.4045G>A (p.Gly1349Arg)
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NM_032444.4(SLX4):c.4049G>A (p.Gly1350Asp)
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NM_032444.4(SLX4):c.4055C>G (p.Pro1352Arg)
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NM_032444.4(SLX4):c.4056G>T (p.Pro1352=)
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NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
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rs142205392
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NM_032444.4(SLX4):c.4057C>T (p.His1353Tyr)
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rs142205392
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NM_032444.4(SLX4):c.4067C>A (p.Pro1356Gln)
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rs764254888
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NM_032444.4(SLX4):c.4069C>T (p.Leu1357=)
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NM_032444.4(SLX4):c.4075C>T (p.Pro1359Ser)
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NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
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rs1596520443
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NM_032444.4(SLX4):c.4098C>G (p.Arg1366=)
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rs770811758
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NM_032444.4(SLX4):c.40T>C (p.Leu14=)
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NM_032444.4(SLX4):c.4114C>T (p.Arg1372Trp)
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NM_032444.4(SLX4):c.4122G>A (p.Leu1374=)
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NM_032444.4(SLX4):c.4129T>G (p.Ser1377Ala)
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NM_032444.4(SLX4):c.4130C>G (p.Ser1377Trp)
|
rs770241338
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NM_032444.4(SLX4):c.4133del (p.Pro1378fs)
|
rs1174332682
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NM_032444.4(SLX4):c.4135C>G (p.Pro1379Ala)
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NM_032444.4(SLX4):c.414T>C (p.Asn138=)
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rs2151139252
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NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)
|
rs1374549534
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NM_032444.4(SLX4):c.4160C>A (p.Thr1387Asn)
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NM_032444.4(SLX4):c.4162C>G (p.Pro1388Ala)
|
rs1457147753
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NM_032444.4(SLX4):c.4167G>A (p.Ala1389=)
|
rs541433695
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NM_032444.4(SLX4):c.416G>C (p.Gly139Ala)
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NM_032444.4(SLX4):c.416G>T (p.Gly139Val)
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NM_032444.4(SLX4):c.4171G>A (p.Glu1391Lys)
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NM_032444.4(SLX4):c.4175TGG[1] (p.Val1393del)
|
rs756477852
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NM_032444.4(SLX4):c.4177G>C (p.Val1393Leu)
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NM_032444.4(SLX4):c.4191C>A (p.Asp1397Glu)
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NM_032444.4(SLX4):c.4191C>T (p.Asp1397=)
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NM_032444.4(SLX4):c.4195G>T (p.Asp1399Tyr)
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NM_032444.4(SLX4):c.4197C>G (p.Asp1399Glu)
|
rs146079010
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NM_032444.4(SLX4):c.4203G>A (p.Glu1401=)
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NM_032444.4(SLX4):c.420G>A (p.Glu140=)
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rs753015235
|
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NM_032444.4(SLX4):c.420G>T (p.Glu140Asp)
|
rs753015235
|
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NM_032444.4(SLX4):c.4219C>T (p.His1407Tyr)
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NM_032444.4(SLX4):c.421G>C (p.Gly141Arg)
|
rs137976282
|
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NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
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NM_032444.4(SLX4):c.4229A>G (p.Asn1410Ser)
|
rs1596520203
|
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NM_032444.4(SLX4):c.4230C>G (p.Asn1410Lys)
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NM_032444.4(SLX4):c.423G>T (p.Gly141=)
|
rs111405249
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NM_032444.4(SLX4):c.4245_4246delinsAA (p.Asp1416Asn)
|
rs2040548229
|
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NM_032444.4(SLX4):c.4250G>A (p.Ser1417Asn)
|
rs1158558800
|
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NM_032444.4(SLX4):c.4251T>C (p.Ser1417=)
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NM_032444.4(SLX4):c.4255C>T (p.Pro1419Ser)
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NM_032444.4(SLX4):c.4258C>G (p.Pro1420Ala)
|
rs2151121708
|
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NM_032444.4(SLX4):c.4258C>T (p.Pro1420Ser)
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NM_032444.4(SLX4):c.4258_4259dup (p.Ile1421fs)
|
rs781663547
|
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NM_032444.4(SLX4):c.4259dup (p.Ile1421fs)
|
rs781663547
|
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NM_032444.4(SLX4):c.4264C>G (p.Pro1422Ala)
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NM_032444.4(SLX4):c.4265C>T (p.Pro1422Leu)
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NM_032444.4(SLX4):c.426T>A (p.Gly142=)
|
rs377500336
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NM_032444.4(SLX4):c.4270GAC[1] (p.Asp1425del)
|
rs755109579
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NM_032444.4(SLX4):c.427G>A (p.Val143Met)
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NM_032444.4(SLX4):c.4280G>C (p.Cys1427Ser)
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NM_032444.4(SLX4):c.4281C>T (p.Cys1427=)
|
rs2151121647
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NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter)
|
rs1028935047
|
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NM_032444.4(SLX4):c.4285C>T (p.His1429Tyr)
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NM_032444.4(SLX4):c.4288A>G (p.Met1430Val)
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NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)
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NM_032444.4(SLX4):c.4293G>A (p.Glu1431=)
|
rs2151121628
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NM_032444.4(SLX4):c.4295C>T (p.Pro1432Leu)
|
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NM_032444.4(SLX4):c.4302G>A (p.Ser1434=)
|
rs768311081
|
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NM_032444.4(SLX4):c.4306A>G (p.Ile1436Val)
|
rs2151121602
|
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NM_032444.4(SLX4):c.4311C>G (p.Pro1437=)
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NM_032444.4(SLX4):c.4314T>C (p.Ile1438=)
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NM_032444.4(SLX4):c.4333C>G (p.Arg1445Gly)
|
rs777967898
|
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NM_032444.4(SLX4):c.4335G>A (p.Arg1445=)
|
rs139377113
|
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NM_032444.4(SLX4):c.4336A>G (p.Thr1446Ala)
|
rs2040546349
|
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NM_032444.4(SLX4):c.4336_4340del (p.Thr1446fs)
|
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NM_032444.4(SLX4):c.4337C>G (p.Thr1446Ser)
|
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NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn)
|
rs765104618
|
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NM_032444.4(SLX4):c.4362C>G (p.Pro1454=)
|
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NM_032444.4(SLX4):c.4368C>T (p.Arg1456=)
|
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NM_032444.4(SLX4):c.4371G>A (p.Arg1457=)
|
rs745485209
|
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NM_032444.4(SLX4):c.4371G>T (p.Arg1457Ser)
|
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NM_032444.4(SLX4):c.4373T>C (p.Met1458Thr)
|
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NM_032444.4(SLX4):c.4374G>C (p.Met1458Ile)
|
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NM_032444.4(SLX4):c.4377C>G (p.Asn1459Lys)
|
rs773941480
|
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NM_032444.4(SLX4):c.4378G>A (p.Glu1460Lys)
|
rs749082427
|
|
|
NM_032444.4(SLX4):c.437C>G (p.Ser146Cys)
|
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NM_032444.4(SLX4):c.4381_4391del (p.Ala1461fs)
|
rs751653739
|
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|
NM_032444.4(SLX4):c.4382C>T (p.Ala1461Val)
|
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|
NM_032444.4(SLX4):c.4382CCG[1] (p.Ala1462del)
|
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NM_032444.4(SLX4):c.4394G>C (p.Arg1465Pro)
|
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NM_032444.4(SLX4):c.4394G>T (p.Arg1465Leu)
|
rs757128699
|
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NM_032444.4(SLX4):c.4395_4406del (p.Asp1466_Ser1469del)
|
rs2151121320
|
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|
NM_032444.4(SLX4):c.4400G>A (p.Cys1467Tyr)
|
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NM_032444.4(SLX4):c.4400G>C (p.Cys1467Ser)
|
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NM_032444.4(SLX4):c.4404C>T (p.Arg1468=)
|
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NM_032444.4(SLX4):c.440C>T (p.Ala147Val)
|
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NM_032444.4(SLX4):c.4411G>A (p.Gly1471Arg)
|
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NM_032444.4(SLX4):c.4420G>A (p.Asp1474Asn)
|
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NM_032444.4(SLX4):c.4428C>T (p.Thr1476=)
|
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NM_032444.4(SLX4):c.4429C>G (p.Pro1477Ala)
|
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|
NM_032444.4(SLX4):c.442C>T (p.Pro148Ser)
|
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NM_032444.4(SLX4):c.4431C>G (p.Pro1477=)
|
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|
|
NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)
|
|
|
|
NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg)
|
rs1307537720
|
|
|
NM_032444.4(SLX4):c.4451C>T (p.Thr1484Ile)
|
|
|
|
NM_032444.4(SLX4):c.4452C>G (p.Thr1484=)
|
|
|
|
NM_032444.4(SLX4):c.4457G>A (p.Arg1486Lys)
|
|
|
|
NM_032444.4(SLX4):c.4464G>C (p.Leu1488Phe)
|
rs2040543369
|
|
|
NM_032444.4(SLX4):c.4468G>A (p.Glu1490Lys)
|
rs1378182049
|
|
|
NM_032444.4(SLX4):c.4479G>C (p.Ser1493=)
|
|
|
|
NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del)
|
rs750613465
|
|
|
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=)
|
rs140872903
|
|
|
NM_032444.4(SLX4):c.4488C>T (p.Gly1496=)
|
rs2151121109
|
|
|
NM_032444.4(SLX4):c.4504A>C (p.Arg1502=)
|
|
|
|
NM_032444.4(SLX4):c.4505G>A (p.Arg1502Lys)
|
|
|
|
NM_032444.4(SLX4):c.4508C>G (p.Pro1503Arg)
|
rs370637700
|
|
|
NM_032444.4(SLX4):c.4509G>A (p.Pro1503=)
|
|
|
|
NM_032444.4(SLX4):c.4510A>C (p.Ser1504Arg)
|
|
|
|
NM_032444.4(SLX4):c.4511G>C (p.Ser1504Thr)
|
rs1485376668
|
|
|
NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)
|
|
|
|
NM_032444.4(SLX4):c.4523C>G (p.Ser1508Trp)
|
|
|
|
NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu)
|
rs112694849
|
|
|
NM_032444.4(SLX4):c.4524G>T (p.Ser1508=)
|
rs1423670990
|
|
|
NM_032444.4(SLX4):c.4534G>A (p.Asp1512Asn)
|
|
|
|
NM_032444.4(SLX4):c.4534G>C (p.Asp1512His)
|
|
|
|
NM_032444.4(SLX4):c.4542G>T (p.Trp1514Cys)
|
rs1198880078
|
|
|
NM_032444.4(SLX4):c.4546G>C (p.Gly1516Arg)
|
rs775915651
|
|
|
NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)
|
|
|
|
NM_032444.4(SLX4):c.4554G>A (p.Glu1518=)
|
|
|
|
NM_032444.4(SLX4):c.4556A>C (p.Gln1519Pro)
|
rs561446698
|
|
|
NM_032444.4(SLX4):c.455T>C (p.Val152Ala)
|
rs2151139133
|
|
|
NM_032444.4(SLX4):c.4560G>A (p.Arg1520=)
|
rs2040541238
|
|
|
NM_032444.4(SLX4):c.456G>A (p.Val152=)
|
|
|
|
NM_032444.4(SLX4):c.4576C>T (p.Pro1526Ser)
|
|
|
|
NM_032444.4(SLX4):c.4586A>G (p.Gln1529Arg)
|
rs2151120875
|
|
|
NM_032444.4(SLX4):c.4590G>T (p.Met1530Ile)
|
|
|
|
NM_032444.4(SLX4):c.4593A>C (p.Pro1531=)
|
rs2151120865
|
|
|
NM_032444.4(SLX4):c.4596C>T (p.Ser1532=)
|
rs527733303
|
|
|
NM_032444.4(SLX4):c.4600G>T (p.Gly1534Cys)
|
rs78770603
|
|
|
NM_032444.4(SLX4):c.4601G>A (p.Gly1534Asp)
|
rs753047651
|
|
|
NM_032444.4(SLX4):c.4601G>T (p.Gly1534Val)
|
rs753047651
|
|
|
NM_032444.4(SLX4):c.4615C>T (p.Pro1539Ser)
|
|
|
|
NM_032444.4(SLX4):c.4617C>G (p.Pro1539=)
|
|
|
|
NM_032444.4(SLX4):c.4617C>T (p.Pro1539=)
|
rs545723462
|
|
|
NM_032444.4(SLX4):c.4620A>C (p.Glu1540Asp)
|
|
|
|
NM_032444.4(SLX4):c.4622G>A (p.Gly1541Glu)
|
|
|
|
NM_032444.4(SLX4):c.4629G>C (p.Glu1543Asp)
|
|
|
|
NM_032444.4(SLX4):c.4629G>T (p.Glu1543Asp)
|
rs1406412705
|
|
|
NM_032444.4(SLX4):c.4633C>T (p.Pro1545Ser)
|
rs2040539889
|
|
|
NM_032444.4(SLX4):c.4636+17G>A
|
|
|
|
NM_032444.4(SLX4):c.4636+20G>A
|
|
|
|
NM_032444.4(SLX4):c.4636A>G (p.Lys1546Glu)
|
|
|
|
NM_032444.4(SLX4):c.4644T>G (p.Ala1548=)
|
|
|
|
NM_032444.4(SLX4):c.4645A>T (p.Asn1549Tyr)
|
rs2040490377
|
|
|
NM_032444.4(SLX4):c.4652A>G (p.Lys1551Arg)
|
|
|
|
NM_032444.4(SLX4):c.4668C>G (p.Pro1556=)
|
|
|
|
NM_032444.4(SLX4):c.4668del (p.Val1558fs)
|
|
|
|
NM_032444.4(SLX4):c.4668dup (p.Lys1557fs)
|
|
|
|
NM_032444.4(SLX4):c.4678A>G (p.Ile1560Val)
|
|
|
|
NM_032444.4(SLX4):c.467C>T (p.Thr156Ile)
|
rs144614070
|
|
|
NM_032444.4(SLX4):c.4686G>A (p.Pro1562=)
|
rs752013105
|
|
|
NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)
|
|
|
|
NM_032444.4(SLX4):c.4697A>G (p.Tyr1566Cys)
|
|
|
|
NM_032444.4(SLX4):c.4703T>C (p.Ile1568Thr)
|
rs377185661
|
|
|
NM_032444.4(SLX4):c.4706T>C (p.Met1569Thr)
|
|
|
|
NM_032444.4(SLX4):c.4713G>A (p.Thr1571=)
|
|
|
|
NM_032444.4(SLX4):c.4717G>T (p.Val1573Leu)
|
|
|
|
NM_032444.4(SLX4):c.4720C>G (p.Leu1574Val)
|
rs2040488671
|
|
|
NM_032444.4(SLX4):c.4721_4722delinsCC (p.Leu1574Pro)
|
rs2151118023
|
|
|
NM_032444.4(SLX4):c.4728G>A (p.Lys1576=)
|
|
|
|
NM_032444.4(SLX4):c.4729G>C (p.Glu1577Gln)
|
|
|
|
NM_032444.4(SLX4):c.4737T>A (p.Asp1579Glu)
|
rs1466193115
|
|
|
NM_032444.4(SLX4):c.4739+15A>G
|
|
|
|
NM_032444.4(SLX4):c.4739+6C>A
|
rs770758859
|
|
|
NM_032444.4(SLX4):c.4740-13G>A
|
rs1266530523
|
|
|
NM_032444.4(SLX4):c.4740-16C>T
|
|
|
|
NM_032444.4(SLX4):c.4740-18C>T
|
|
|
|
NM_032444.4(SLX4):c.4740-8T>A
|
|
|
|
NM_032444.4(SLX4):c.4742T>C (p.Phe1581Ser)
|
|
|
|
NM_032444.4(SLX4):c.4749C>A (p.Val1583=)
|
|
|
|
NM_032444.4(SLX4):c.4760C>G (p.Pro1587Arg)
|
rs2040468443
|
|
|
NM_032444.4(SLX4):c.4764del (p.Lys1588fs)
|
rs1567166655
|
|
|
NM_032444.4(SLX4):c.476A>C (p.Asn159Thr)
|
|
|
|
NM_032444.4(SLX4):c.4774G>T (p.Val1592Phe)
|
|
|
|
NM_032444.4(SLX4):c.4783C>T (p.Leu1595=)
|
|
|
|
NM_032444.4(SLX4):c.4787A>C (p.Lys1596Thr)
|
rs2151117092
|
|
|
NM_032444.4(SLX4):c.4791G>C (p.Glu1597Asp)
|
|
|
|
NM_032444.4(SLX4):c.4792A>G (p.Ile1598Val)
|
|
|
|
NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter)
|
rs143026968
|
|
|
NM_032444.4(SLX4):c.4799A>G (p.Gln1600Arg)
|
rs2151117076
|
|
|
NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro)
|
rs756198942
|
|
|
NM_032444.4(SLX4):c.4804A>G (p.Thr1602Ala)
|
|
|
|
NM_032444.4(SLX4):c.4809C>T (p.His1603=)
|
|
|
|
NM_032444.4(SLX4):c.4811A>C (p.Gln1604Pro)
|
rs2040467275
|
|
|
NM_032444.4(SLX4):c.4816C>T (p.Leu1606=)
|
|
|
|
NM_032444.4(SLX4):c.4818G>C (p.Leu1606=)
|
rs2151117040
|
|
|
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)
|
rs200628199
|
|
|
NM_032444.4(SLX4):c.4831G>A (p.Glu1611Lys)
|
|
|
|
NM_032444.4(SLX4):c.4832A>G (p.Glu1611Gly)
|
|
|
|
NM_032444.4(SLX4):c.4836C>A (p.Asp1612Glu)
|
rs140844106
|
|
|
NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter)
|
rs761469284
|
|
|
NM_032444.4(SLX4):c.483G>A (p.Gln161=)
|
|
|
|
NM_032444.4(SLX4):c.4842C>G (p.Ser1614Arg)
|
rs2151116971
|
|
|
NM_032444.4(SLX4):c.4845G>A (p.Gln1615=)
|
rs988625732
|
|
|
NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
|
|
|
|
NM_032444.4(SLX4):c.4860G>A (p.Leu1620=)
|
rs1415687441
|
|
|
NM_032444.4(SLX4):c.4860G>T (p.Leu1620=)
|
|
|
|
NM_032444.4(SLX4):c.4862del (p.Leu1621fs)
|
rs1567166544
|
|
|
NM_032444.4(SLX4):c.4872T>G (p.Pro1624=)
|
|
|
|
NM_032444.4(SLX4):c.487G>A (p.Gly163Ser)
|
|
|
|
NM_032444.4(SLX4):c.4883C>A (p.Thr1628Asn)
|
rs199573277
|
|
|
NM_032444.4(SLX4):c.4883C>T (p.Thr1628Ile)
|
rs199573277
|
|
|
NM_032444.4(SLX4):c.4896G>A (p.Gln1632=)
|
|
|
|
NM_032444.4(SLX4):c.4906C>A (p.Pro1636Thr)
|
|
|
|
NM_032444.4(SLX4):c.4916C>G (p.Ala1639Gly)
|
|
|
|
NM_032444.4(SLX4):c.4916C>T (p.Ala1639Val)
|
|
|
|
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg)
|
rs368102037
|
|
|
NM_032444.4(SLX4):c.4921dup (p.Val1641fs)
|
rs770425994
|
|
|
NM_032444.4(SLX4):c.4931A>G (p.Gln1644Arg)
|
rs2151116778
|
|
|
NM_032444.4(SLX4):c.4936G>A (p.Glu1646Lys)
|
|
|
|
NM_032444.4(SLX4):c.4936G>C (p.Glu1646Gln)
|
|
|
|
NM_032444.4(SLX4):c.4943C>A (p.Thr1648Asn)
|
|
|
|
NM_032444.4(SLX4):c.4946C>T (p.Thr1649Ile)
|
rs2040464427
|
|
|
NM_032444.4(SLX4):c.4948G>A (p.Gly1650Arg)
|
rs770344772
|
|
|
NM_032444.4(SLX4):c.4949G>A (p.Gly1650Glu)
|
rs1567166441
|
|
|
NM_032444.4(SLX4):c.4950A>G (p.Gly1650=)
|
|
|
|
NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr)
|
rs2151116711
|
|
|
NM_032444.4(SLX4):c.4962T>C (p.His1654=)
|
rs1407754407
|
|
|
NM_032444.4(SLX4):c.4968C>T (p.Pro1656=)
|
|
|
|
NM_032444.4(SLX4):c.4973G>A (p.Gly1658Glu)
|
|
|
|
NM_032444.4(SLX4):c.4975C>T (p.Pro1659Ser)
|
|
|
|
NM_032444.4(SLX4):c.4978_4980del (p.Ala1660del)
|
|
|
|
NM_032444.4(SLX4):c.4979C>T (p.Ala1660Val)
|
|
|
|
NM_032444.4(SLX4):c.497A>C (p.Gln166Pro)
|
rs2151139059
|
|
|
NM_032444.4(SLX4):c.4983G>A (p.Lys1661=)
|
rs769196428
|
|
|
NM_032444.4(SLX4):c.4990G>A (p.Gly1664Ser)
|
|
|
|
NM_032444.4(SLX4):c.4992C>T (p.Gly1664=)
|
|
|
|
NM_032444.4(SLX4):c.4997G>A (p.Arg1666Gln)
|
|
|
|
NM_032444.4(SLX4):c.4999C>A (p.His1667Asn)
|
rs746120772
|
|
|
NM_032444.4(SLX4):c.5000A>C (p.His1667Pro)
|
|
|
|
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile)
|
rs377544881
|
|
|
NM_032444.4(SLX4):c.5030C>A (p.Pro1677His)
|
rs2040462734
|
|
|
NM_032444.4(SLX4):c.5039G>A (p.Arg1680Lys)
|
|
|
|
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser)
|
rs199592185
|
|
|
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)
|
rs199592185
|
|
|
NM_032444.4(SLX4):c.5044C>T (p.Pro1682Ser)
|
|
|
|
NM_032444.4(SLX4):c.5049C>A (p.Thr1683=)
|
rs1596515370
|
|
|
NM_032444.4(SLX4):c.5055_5058dup (p.Pro1687fs)
|
rs2151116570
|
|
|
NM_032444.4(SLX4):c.5057C>T (p.Ala1686Val)
|
|
|
|
NM_032444.4(SLX4):c.5063C>T (p.Pro1688Leu)
|
rs2151116555
|
|
|
NM_032444.4(SLX4):c.5066G>A (p.Gly1689Asp)
|
rs2151116548
|
|
|
NM_032444.4(SLX4):c.506C>G (p.Ser169Trp)
|
|
|
|
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
|
rs776018346
|
|
|
NM_032444.4(SLX4):c.5072A>T (p.Asn1691Ile)
|
rs551385115
|
|
|
NM_032444.4(SLX4):c.5076T>C (p.Asp1692=)
|
|
|
|
NM_032444.4(SLX4):c.5079C>T (p.Asp1693=)
|
|
|
|
NM_032444.4(SLX4):c.507G>A (p.Ser169=)
|
|
|
|
NM_032444.4(SLX4):c.5080G>A (p.Ala1694Thr)
|
rs1218491919
|
|
|
NM_032444.4(SLX4):c.5080G>T (p.Ala1694Ser)
|
rs1218491919
|
|
|
NM_032444.4(SLX4):c.5085G>A (p.Gln1695=)
|
|
|
|
NM_032444.4(SLX4):c.5088C>T (p.Ile1696=)
|
rs745883123
|
|
|
NM_032444.4(SLX4):c.5096C>G (p.Ser1699Cys)
|
rs184699331
|
|
|
NM_032444.4(SLX4):c.5097T>C (p.Ser1699=)
|
rs202099433
|
|
|
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs)
|
rs1022072026
|
|
|
NM_032444.4(SLX4):c.5101_5103del (p.Glu1701del)
|
|
|
|
NM_032444.4(SLX4):c.5102A>T (p.Glu1701Val)
|
rs2040461062
|
|
|
NM_032444.4(SLX4):c.5107G>A (p.Val1703Met)
|
|
|
|
NM_032444.4(SLX4):c.5107G>T (p.Val1703Leu)
|
|
|
|
NM_032444.4(SLX4):c.5108T>G (p.Val1703Gly)
|
rs2040460900
|
|
|
NM_032444.4(SLX4):c.5109G>C (p.Val1703=)
|
|
|
|
NM_032444.4(SLX4):c.5110G>T (p.Ala1704Ser)
|
|
|
|
NM_032444.4(SLX4):c.5129G>A (p.Ser1710Asn)
|
rs2151116448
|
|
|
NM_032444.4(SLX4):c.5139C>T (p.Ser1713=)
|
rs748115513
|
|
|
NM_032444.4(SLX4):c.513C>T (p.Asn171=)
|
|
|
|
NM_032444.4(SLX4):c.5143A>G (p.Ser1715Gly)
|
rs2151116429
|
|
|
NM_032444.4(SLX4):c.514del (p.Leu172fs)
|
rs1567178071
|
|
|
NM_032444.4(SLX4):c.5150A>C (p.Gln1717Pro)
|
rs766089444
|
|
|
NM_032444.4(SLX4):c.5150A>G (p.Gln1717Arg)
|
rs766089444
|
|
|
NM_032444.4(SLX4):c.5153+16C>T
|
|
|
|
NM_032444.4(SLX4):c.5153+5C>A
|
|
|
|
NM_032444.4(SLX4):c.5153+6C>A
|
rs754209356
|
|
|
NM_032444.4(SLX4):c.5153+6C>T
|
rs754209356
|
|
|
NM_032444.4(SLX4):c.5154-13T>C
|
|
|
|
NM_032444.4(SLX4):c.5154-19C>T
|
|
|
|
NM_032444.4(SLX4):c.5154-4del
|
rs2151116057
|
|
|
NM_032444.4(SLX4):c.5154-9T>A
|
rs1372404016
|
|
|
NM_032444.4(SLX4):c.5154TTC[1] (p.Ser1721del)
|
rs770121119
|
|
|
NM_032444.4(SLX4):c.5169G>A (p.Glu1723=)
|
rs2151116036
|
|
|
NM_032444.4(SLX4):c.5171T>C (p.Phe1724Ser)
|
rs2151116029
|
|
|
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
|
|
|
|
NM_032444.4(SLX4):c.5185G>C (p.Glu1729Gln)
|
rs1376464922
|
|
|
NM_032444.4(SLX4):c.5186A>C (p.Glu1729Ala)
|
|
|
|
NM_032444.4(SLX4):c.5189C>T (p.Ser1730Phe)
|
rs376960842
|
|
|
NM_032444.4(SLX4):c.5192C>T (p.Ala1731Val)
|
|
|
|
NM_032444.4(SLX4):c.5197G>A (p.Glu1733Lys)
|
|
|
|
NM_032444.4(SLX4):c.5204A>C (p.Glu1735Ala)
|
|
|
|
NM_032444.4(SLX4):c.5209G>A (p.Glu1737Lys)
|
|
|
|
NM_032444.4(SLX4):c.5211G>C (p.Glu1737Asp)
|
rs1365924781
|
|
|
NM_032444.4(SLX4):c.5215G>A (p.Glu1739Lys)
|
rs2040453082
|
|
|
NM_032444.4(SLX4):c.5216_5217dup (p.Val1740fs)
|
rs2151115927
|
|
|
NM_032444.4(SLX4):c.5220C>T (p.Val1740=)
|
|
|
|
NM_032444.4(SLX4):c.5229G>C (p.Ser1743=)
|
|
|
|
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs)
|
rs781479923
|
|
|
NM_032444.4(SLX4):c.5238C>T (p.Ala1746=)
|
|
|
|
NM_032444.4(SLX4):c.5239G>A (p.Val1747Met)
|
|
|
|
NM_032444.4(SLX4):c.5239G>T (p.Val1747Leu)
|
|
|
|
NM_032444.4(SLX4):c.5244G>A (p.Gln1748=)
|
rs2151115866
|
|
|
NM_032444.4(SLX4):c.5246C>T (p.Ala1749Val)
|
|
|
|
NM_032444.4(SLX4):c.5248G>A (p.Ala1750Thr)
|
|
|
|
NM_032444.4(SLX4):c.5248_5249delinsTT (p.Ala1750Leu)
|
rs878855163
|
|
|
NM_032444.4(SLX4):c.5250G>A (p.Ala1750=)
|
rs370495748
|
|
|
NM_032444.4(SLX4):c.5250G>C (p.Ala1750=)
|
|
|
|
NM_032444.4(SLX4):c.5257G>C (p.Asp1753His)
|
rs981311587
|
|
|
NM_032444.4(SLX4):c.5262G>A (p.Glu1754=)
|
rs1158728649
|
|
|
NM_032444.4(SLX4):c.5264C>G (p.Ala1755Gly)
|
|
|
|
NM_032444.4(SLX4):c.5271G>A (p.Arg1757=)
|
rs761845224
|
|
|
NM_032444.4(SLX4):c.528A>C (p.Lys176Asn)
|
rs778569160
|
|
|
NM_032444.4(SLX4):c.5292G>A (p.Pro1764=)
|
|
|
|
NM_032444.4(SLX4):c.5298G>C (p.Leu1766=)
|
|
|
|
NM_032444.4(SLX4):c.5300A>G (p.Tyr1767Cys)
|
rs2040450814
|
|
|
NM_032444.4(SLX4):c.5305_5322dup (p.Lys1769_Gln1774dup)
|
rs2151115686
|
|
|
NM_032444.4(SLX4):c.5308G>A (p.Val1770Met)
|
|
|
|
NM_032444.4(SLX4):c.5309T>A (p.Val1770Glu)
|
|
|
|
NM_032444.4(SLX4):c.5312T>C (p.Leu1771Pro)
|
|
|
|
NM_032444.4(SLX4):c.5316G>A (p.Leu1772=)
|
|
|
|
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=)
|
rs1596514559
|
|
|
NM_032444.4(SLX4):c.5325C>T (p.Pro1775=)
|
|
|
|
NM_032444.4(SLX4):c.5327T>G (p.Phe1776Cys)
|
rs747442815
|
|
|
NM_032444.4(SLX4):c.5328T>G (p.Phe1776Leu)
|
rs2040450297
|
|
|
NM_032444.4(SLX4):c.5333T>G (p.Leu1778Arg)
|
|
|
|
NM_032444.4(SLX4):c.5342_5350del (p.Leu1781_Glu1784delinsGln)
|
rs2151115638
|
|
|
NM_032444.4(SLX4):c.535+13C>T
|
|
|
|
NM_032444.4(SLX4):c.535+6T>G
|
|
|
|
NM_032444.4(SLX4):c.535+8G>T
|
rs1438562094
|
|
|
NM_032444.4(SLX4):c.5352G>A (p.Glu1784=)
|
|
|
|
NM_032444.4(SLX4):c.5359C>G (p.Gln1787Glu)
|
rs1259909923
|
|
|
NM_032444.4(SLX4):c.5359C>T (p.Gln1787Ter)
|
|
|
|
NM_032444.4(SLX4):c.536-11C>T
|
rs988977923
|
|
|
NM_032444.4(SLX4):c.5364C>T (p.Asn1788=)
|
|
|
|
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile)
|
rs2040449660
|
|
|
NM_032444.4(SLX4):c.5381C>T (p.Ser1794Leu)
|
|
|
|
NM_032444.4(SLX4):c.5389C>T (p.Leu1797=)
|
|
|
|
NM_032444.4(SLX4):c.5409C>A (p.Thr1803=)
|
|
|
|
NM_032444.4(SLX4):c.540T>C (p.Asn180=)
|
|
|
|
NM_032444.4(SLX4):c.5412C>T (p.His1804=)
|
|
|
|
NM_032444.4(SLX4):c.5434G>A (p.Ala1812Thr)
|
|
|
|
NM_032444.4(SLX4):c.5440C>G (p.Arg1814Gly)
|
|
|
|
NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys)
|
rs767720336
|
|
|
NM_032444.4(SLX4):c.5444G>C (p.Arg1815Thr)
|
rs375885941
|
|
|
NM_032444.4(SLX4):c.5446G>A (p.Glu1816Lys)
|
|
|
|
NM_032444.4(SLX4):c.5467C>A (p.Arg1823=)
|
rs771230395
|
|
|
NM_032444.4(SLX4):c.5468G>A (p.Arg1823Gln)
|
|
|
|
NM_032444.4(SLX4):c.5480G>T (p.Gly1827Val)
|
rs2151115403
|
|
|
NM_032444.4(SLX4):c.5480del (p.Gly1827fs)
|
rs780024167
|
|
|
NM_032444.4(SLX4):c.5482AAG[2] (p.Lys1830del)
|
rs758485573
|
|
|
NM_032444.4(SLX4):c.5490G>A (p.Lys1830=)
|
|
|
|
NM_032444.4(SLX4):c.552C>T (p.Ser184=)
|
|
|
|
NM_032444.4(SLX4):c.553G>T (p.Asp185Tyr)
|
|
|
|
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)
|
rs2040788600
|
|
|
NM_032444.4(SLX4):c.55C>T (p.His19Tyr)
|
|
|
|
NM_032444.4(SLX4):c.565C>G (p.Pro189Ala)
|
rs757069991
|
|
|
NM_032444.4(SLX4):c.565C>T (p.Pro189Ser)
|
|
|
|
NM_032444.4(SLX4):c.568C>T (p.Pro190Ser)
|
rs753758188
|
|
|
NM_032444.4(SLX4):c.580A>G (p.Thr194Ala)
|
|
|
|
NM_032444.4(SLX4):c.585A>G (p.Thr195=)
|
|
|
|
NM_032444.4(SLX4):c.589G>A (p.Val197Met)
|
rs1555452306
|
|
|
NM_032444.4(SLX4):c.595A>C (p.Ser199Arg)
|
rs770098753
|
|
|
NM_032444.4(SLX4):c.59del (p.Leu20fs)
|
rs1315905872
|
|
|
NM_032444.4(SLX4):c.607C>A (p.Pro203Thr)
|
rs2151137984
|
|
|
NM_032444.4(SLX4):c.60G>A (p.Leu20=)
|
rs200430973
|
|
|
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly)
|
rs79842542
|
|
|
NM_032444.4(SLX4):c.616G>A (p.Ala206Thr)
|
|
|
|
NM_032444.4(SLX4):c.619_623dup (p.Leu208fs)
|
|
|
|
NM_032444.4(SLX4):c.628C>T (p.Leu210=)
|
rs772125734
|
|
|
NM_032444.4(SLX4):c.629T>C (p.Leu210Pro)
|
rs957576825
|
|
|
NM_032444.4(SLX4):c.632A>G (p.Gln211Arg)
|
rs2151137938
|
|
|
NM_032444.4(SLX4):c.642G>A (p.Gln214=)
|
rs2151137919
|
|
|
NM_032444.4(SLX4):c.645G>C (p.Gln215His)
|
rs1449991903
|
|
|
NM_032444.4(SLX4):c.657A>C (p.Ala219=)
|
rs899168599
|
|
|
NM_032444.4(SLX4):c.660C>A (p.Asp220Glu)
|
rs767206967
|
|
|
NM_032444.4(SLX4):c.661C>T (p.Pro221Ser)
|
rs2040785784
|
|
|
NM_032444.4(SLX4):c.663C>T (p.Pro221=)
|
|
|
|
NM_032444.4(SLX4):c.666G>A (p.Glu222=)
|
|
|
|
NM_032444.4(SLX4):c.66C>T (p.Ala22=)
|
rs774837514
|
|
|
NM_032444.4(SLX4):c.676C>T (p.His226Tyr)
|
rs761229867
|
|
|
NM_032444.4(SLX4):c.678C>A (p.His226Gln)
|
rs28516461
|
|
|
NM_032444.4(SLX4):c.681T>G (p.Ala227=)
|
|
|
|
NM_032444.4(SLX4):c.690G>A (p.Glu230=)
|
|
|
|
NM_032444.4(SLX4):c.696C>A (p.Ser232=)
|
|
|
|
NM_032444.4(SLX4):c.698T>C (p.Leu233Pro)
|
rs2151137818
|
|
|
NM_032444.4(SLX4):c.703G>A (p.Ala235Thr)
|
rs754917250
|
|
|
NM_032444.4(SLX4):c.704C>G (p.Ala235Gly)
|
rs2040784637
|
|
|
NM_032444.4(SLX4):c.707C>T (p.Ala236Val)
|
rs200803578
|
|
|
NM_032444.4(SLX4):c.718A>C (p.Asn240His)
|
|
|
|
NM_032444.4(SLX4):c.738A>G (p.Gln246=)
|
rs905819290
|
|
|
NM_032444.4(SLX4):c.741G>A (p.Glu247=)
|
|
|
|
NM_032444.4(SLX4):c.742G>C (p.Glu248Gln)
|
|
|
|
NM_032444.4(SLX4):c.749T>C (p.Met250Thr)
|
|
|
|
NM_032444.4(SLX4):c.753G>T (p.Ala251=)
|
|
|
|
NM_032444.4(SLX4):c.760+12G>A
|
rs2151137685
|
|
|
NM_032444.4(SLX4):c.760+18C>T
|
|
|
|
NM_032444.4(SLX4):c.760+19T>A
|
|
|
|
NM_032444.4(SLX4):c.760+5G>A
|
rs1555452262
|
|
|
NM_032444.4(SLX4):c.760+8G>T
|
rs746864879
|
|
|
NM_032444.4(SLX4):c.761-14G>A
|
|
|
|
NM_032444.4(SLX4):c.764A>G (p.Tyr255Cys)
|
|
|
|
NM_032444.4(SLX4):c.768G>T (p.Gly256=)
|
|
|
|
NM_032444.4(SLX4):c.788A>C (p.Glu263Ala)
|
rs2151135057
|
|
|
NM_032444.4(SLX4):c.792C>G (p.Ser264Arg)
|
|
|
|
NM_032444.4(SLX4):c.793G>A (p.Asp265Asn)
|
|
|
|
NM_032444.4(SLX4):c.793G>C (p.Asp265His)
|
|
|
|
NM_032444.4(SLX4):c.798T>C (p.Ala266=)
|
|
|
|
NM_032444.4(SLX4):c.805G>T (p.Ala269Ser)
|
|
|
|
NM_032444.4(SLX4):c.80A>T (p.Asp27Val)
|
rs1567178445
|
|
|
NM_032444.4(SLX4):c.81C>T (p.Asp27=)
|
|
|
|
NM_032444.4(SLX4):c.822G>C (p.Gln274His)
|
rs1367038373
|
|
|
NM_032444.4(SLX4):c.852T>C (p.His284=)
|
rs770412592
|
|
|
NM_032444.4(SLX4):c.853GAT[1] (p.Asp286del)
|
rs761185763
|
|
|
NM_032444.4(SLX4):c.864G>A (p.Leu288=)
|
|
|
|
NM_032444.4(SLX4):c.867G>C (p.Glu289Asp)
|
|
|
|
NM_032444.4(SLX4):c.86G>C (p.Arg29Pro)
|
|
|
|
NM_032444.4(SLX4):c.86_89del (p.Arg29fs)
|
rs2151139911
|
|
|
NM_032444.4(SLX4):c.874G>C (p.Gly292Arg)
|
rs780402573
|
|
|
NM_032444.4(SLX4):c.883T>C (p.Phe295Leu)
|
|
|
|
NM_032444.4(SLX4):c.8T>G (p.Leu3Arg)
|
|
|
|
NM_032444.4(SLX4):c.906C>T (p.Asn302=)
|
rs1397863706
|
|
|
NM_032444.4(SLX4):c.908T>C (p.Leu303Pro)
|
|
|
|
NM_032444.4(SLX4):c.943G>A (p.Val315Met)
|
|
|
|
NM_032444.4(SLX4):c.950+11C>T
|
|
|
|
NM_032444.4(SLX4):c.950+17C>T
|
|
|
|
NM_032444.4(SLX4):c.950+18C>T
|
|
|
|
NM_032444.4(SLX4):c.950+3G>C
|
|
|
|
NM_032444.4(SLX4):c.951-11T>C
|
|
|
|
NM_032444.4(SLX4):c.951-12G>T
|
rs1160882480
|
|
|
NM_032444.4(SLX4):c.951-13T>C
|
|
|
|
NM_032444.4(SLX4):c.951-16G>T
|
rs2151134218
|
|
|
NM_032444.4(SLX4):c.951-1G>C
|
|
|
|
NM_032444.4(SLX4):c.951-20T>C
|
|
|
|
NM_032444.4(SLX4):c.951G>A (p.Arg317=)
|
rs1338514538
|
|
|
NM_032444.4(SLX4):c.955T>C (p.Leu319=)
|
|
|
|
NM_032444.4(SLX4):c.956T>C (p.Leu319Ser)
|
rs2151134190
|
|
|
NM_032444.4(SLX4):c.957G>A (p.Leu319=)
|
|
|
|
NM_032444.4(SLX4):c.966T>A (p.Ala322=)
|
|
|
|
NM_032444.4(SLX4):c.985_987del (p.Ser329del)
|
rs1289726066
|
|
|
NM_032444.4(SLX4):c.988G>A (p.Val330Met)
|
rs2040723281
|
|
|
NM_032444.4(SLX4):c.996G>A (p.Gln332=)
|
|
|
|
NM_032444.4(SLX4):c.99C>G (p.Asp33Glu)
|
|
|
|
NM_033022.4(RPS24):c.13_14del (p.Val5fs)
|
rs1589326484
|
|
|
NM_033022.4(RPS24):c.155C>A (p.Pro52Gln)
|
|
|
|
NM_033022.4(RPS24):c.156G>A (p.Pro52=)
|
|
|
|
NM_033022.4(RPS24):c.156G>T (p.Pro52=)
|
rs150157180
|
|
|
NM_033022.4(RPS24):c.158A>T (p.Asp53Val)
|
|
|
|
NM_033022.4(RPS24):c.160G>A (p.Val54Ile)
|
|
|
|
NM_033022.4(RPS24):c.165C>T (p.Ile55=)
|
rs1589326814
|
|
|
NM_033022.4(RPS24):c.171A>T (p.Val57=)
|
|
|
|
NM_033022.4(RPS24):c.172T>C (p.Phe58Leu)
|
|
|
|
NM_033022.4(RPS24):c.1A>G (p.Met1Val)
|
rs886039545
|
|
|
NM_033022.4(RPS24):c.20T>G (p.Ile7Ser)
|
rs1554841961
|
|
|
NM_033022.4(RPS24):c.21C>A (p.Ile7=)
|
|
|
|
NM_033022.4(RPS24):c.240T>G (p.Asp80Glu)
|
|
|
|
NM_033022.4(RPS24):c.246A>C (p.Ala82=)
|
rs1240034111
|
|
|
NM_033022.4(RPS24):c.255T>C (p.Asn85=)
|
|
|
|
NM_033022.4(RPS24):c.271C>G (p.Leu91Val)
|
|
|
|
NM_033022.4(RPS24):c.275C>A (p.Ala92Glu)
|
|
|
|
NM_033022.4(RPS24):c.277A>C (p.Arg93=)
|
|
|
|
NM_033022.4(RPS24):c.278G>A (p.Arg93Lys)
|
|
|
|
NM_033022.4(RPS24):c.279+14_279+18del
|
|
|
|
NM_033022.4(RPS24):c.279+17T>A
|
|
|
|
NM_033022.4(RPS24):c.279+20_279+27del
|
rs763970487
|
|
|
NM_033022.4(RPS24):c.280-11_280-10del
|
rs756756010
|
|
|
NM_033022.4(RPS24):c.280-14C>G
|
|
|
|
NM_033022.4(RPS24):c.280-19G>T
|
|
|
|
NM_033022.4(RPS24):c.280-6A>C
|
|
|
|
NM_033022.4(RPS24):c.280-6A>G
|
|
|
|
NM_033022.4(RPS24):c.280C>T (p.His94Tyr)
|
|
|
|
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
|
|
|
|
NM_033022.4(RPS24):c.297G>A (p.Lys99=)
|
rs1020277168
|
|
|
NM_033022.4(RPS24):c.297G>C (p.Lys99Asn)
|
|
|
|
NM_033022.4(RPS24):c.3+14G>C
|
|
|
|
NM_033022.4(RPS24):c.3+16C>T
|
|
|
|
NM_033022.4(RPS24):c.3+17C>T
|
rs751476775
|
|
|
NM_033022.4(RPS24):c.3+20T>A
|
|
|
|
NM_033022.4(RPS24):c.3+7C>G
|
|
|
|
NM_033022.4(RPS24):c.3+9C>T
|
rs775865079
|
|
|
NM_033022.4(RPS24):c.320G>A (p.Arg107Gln)
|
|
|
|
NM_033022.4(RPS24):c.348A>G (p.Lys116=)
|
|
|
|
NM_033022.4(RPS24):c.352_354del (p.Arg118del)
|
rs1847891159
|
|
|
NM_033022.4(RPS24):c.366G>A (p.Lys122=)
|
|
|
|
NM_033022.4(RPS24):c.372T>C (p.Asn124=)
|
|
|
|
NM_033022.4(RPS24):c.384C>G (p.Gly128=)
|
|
|
|
NM_033022.4(RPS24):c.390+13A>C
|
|
|
|
NM_033022.4(RPS24):c.390+4T>C
|
|
|
|
NM_033022.4(RPS24):c.390+9C>T
|
|
|
|
NM_033022.4(RPS24):c.391-11C>T
|
|
|
|
NM_033022.4(RPS24):c.391-4dup
|
|
|
|
NM_033022.4(RPS24):c.391-6A>G
|
|
|
|
NM_033022.4(RPS24):c.4-11T>C
|
|
|
|
NM_033022.4(RPS24):c.4-16G>C
|
|
|
|
NM_033022.4(RPS24):c.4-20C>G
|
rs2131975997
|
|
|
NM_033022.4(RPS24):c.4-3C>T
|
|
|
|
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)
|
rs104894189
|
|
|
NM_033022.4(RPS24):c.47G>C (p.Arg16Pro)
|
rs199524789
|
|
|
NM_033022.4(RPS24):c.47G>T (p.Arg16Leu)
|
|
|
|
NM_033022.4(RPS24):c.69+11G>A
|
|
|
|
NM_033022.4(RPS24):c.69+17C>T
|
|
|
|
NM_033022.4(RPS24):c.70-10C>T
|
rs1345822997
|
|
|
NM_033022.4(RPS24):c.70-14A>G
|
|
|
|
NM_033022.4(RPS24):c.70-15G>T
|
|
|
|
NM_033022.4(RPS24):c.81C>A (p.Val27=)
|
|
|
|
NM_033022.4(RPS24):c.82C>T (p.Leu28Phe)
|
rs775383590
|
|
|
NM_033022.4(RPS24):c.97G>T (p.Ala33Ser)
|
|
|
|
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.-19G>T
|
rs375889604
|
|
|
NM_058216.3(RAD51C):c.-3G>A
|
rs864622151
|
|
|
NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)
|
|
|
|
NM_058216.3(RAD51C):c.1000_1002del (p.Glu334del)
|
|
|
|
NM_058216.3(RAD51C):c.1003T>C (p.Cys335Arg)
|
|
|
|
NM_058216.3(RAD51C):c.1003_1004insTTCC (p.Cys335fs)
|
|
|
|
NM_058216.3(RAD51C):c.1004G>A (p.Cys335Tyr)
|
rs786203846
|
|
|
NM_058216.3(RAD51C):c.1007C>T (p.Thr336Ile)
|
rs2144045960
|
|
|
NM_058216.3(RAD51C):c.1008A>T (p.Thr336=)
|
rs1057521598
|
|
|
NM_058216.3(RAD51C):c.1009G>A (p.Val337Ile)
|
rs2049473367
|
|
|
NM_058216.3(RAD51C):c.1009G>C (p.Val337Leu)
|
rs2049473367
|
|
|
NM_058216.3(RAD51C):c.1009G>T (p.Val337Leu)
|
rs2049473367
|
|
|
NM_058216.3(RAD51C):c.100A>C (p.Thr34Pro)
|
rs2143678482
|
|
|
NM_058216.3(RAD51C):c.1012C>T (p.Leu338=)
|
rs2144046180
|
|
|
NM_058216.3(RAD51C):c.1013_1024del (p.Leu338_Lys342delinsGln)
|
rs780080251
|
|
|
NM_058216.3(RAD51C):c.1014G>A (p.Leu338=)
|
|
|
|
NM_058216.3(RAD51C):c.1014G>C (p.Leu338=)
|
|
|
|
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)
|
rs1555605103
|
|
|
NM_058216.3(RAD51C):c.101C>T (p.Thr34Ile)
|
rs762230288
|
|
|
NM_058216.3(RAD51C):c.1021A>G (p.Ile341Val)
|
rs2049473872
|
|
|
NM_058216.3(RAD51C):c.1023C>A (p.Ile341=)
|
rs775672074
|
|
|
NM_058216.3(RAD51C):c.1026+11T>C
|
|
|
|
NM_058216.3(RAD51C):c.1026+13T>C
|
rs531535812
|
|
|
NM_058216.3(RAD51C):c.1026+13T>G
|
|
|
|
NM_058216.3(RAD51C):c.1026+14G>T
|
|
|
|
NM_058216.3(RAD51C):c.1026+15A>G
|
|
|
|
NM_058216.3(RAD51C):c.1026+20A>C
|
rs764171088
|
|
|
NM_058216.3(RAD51C):c.1026+4A>T
|
|
|
|
NM_058216.3(RAD51C):c.1026+5G>C
|
|
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
|
NM_058216.3(RAD51C):c.1026+6T>A
|
rs2144046795
|
|
|
NM_058216.3(RAD51C):c.1026+9T>G
|
rs1598535256
|
|
|
NM_058216.3(RAD51C):c.1027-10T>A
|
rs2049558368
|
|
|
NM_058216.3(RAD51C):c.1027-10T>C
|
rs2049558368
|
|
|
NM_058216.3(RAD51C):c.1027-10del
|
rs768715761
|
|
|
NM_058216.3(RAD51C):c.1027-10dup
|
rs768715761
|
|
|
NM_058216.3(RAD51C):c.1027-11T>G
|
|
|
|
NM_058216.3(RAD51C):c.1027-13T>G
|
|
|
|
NM_058216.3(RAD51C):c.1027-14T>A
|
|
|
|
NM_058216.3(RAD51C):c.1027-16A>G
|
rs1057523589
|
|
|
NM_058216.3(RAD51C):c.1027-17T>C
|
rs998655673
|
|
|
NM_058216.3(RAD51C):c.1027-1G>A
|
rs1567818502
|
|
|
NM_058216.3(RAD51C):c.1027-1G>T
|
rs1567818502
|
|
|
NM_058216.3(RAD51C):c.1027-2A>G
|
rs587780835
|
|
|
NM_058216.3(RAD51C):c.1027-3C>G
|
rs587782459
|
|
|
NM_058216.3(RAD51C):c.1027-7C>T
|
rs2144059941
|
|
|
NM_058216.3(RAD51C):c.1027-8T>C
|
rs1222826165
|
|
|
NM_058216.3(RAD51C):c.1027-9A>C
|
rs2144059903
|
|
|
NM_058216.3(RAD51C):c.1027C>T (p.Pro343Ser)
|
rs786201890
|
|
|
NM_058216.3(RAD51C):c.1030C>T (p.Gln344Ter)
|
|
|
|
NM_058216.3(RAD51C):c.1032G>A (p.Gln344=)
|
rs876658609
|
|
|
NM_058216.3(RAD51C):c.1032G>C (p.Gln344His)
|
rs876658609
|
|
|
NM_058216.3(RAD51C):c.1037T>C (p.Phe346Ser)
|
rs1555605530
|
|
|
NM_058216.3(RAD51C):c.1038T>A (p.Phe346Leu)
|
rs2144060353
|
|
|
NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter)
|
rs1555605532
|
|
|
NM_058216.3(RAD51C):c.103G>T (p.Ala35Ser)
|
rs1432320770
|
|
|
NM_058216.3(RAD51C):c.1040G>T (p.Arg347Ile)
|
|
|
|
NM_058216.3(RAD51C):c.1042G>C (p.Asp348His)
|
|
|
|
NM_058216.3(RAD51C):c.1042G>T (p.Asp348Tyr)
|
rs1555605533
|
|
|
NM_058216.3(RAD51C):c.1044T>G (p.Asp348Glu)
|
rs2144060550
|
|
|
NM_058216.3(RAD51C):c.1045A>C (p.Thr349Pro)
|
|
|
|
NM_058216.3(RAD51C):c.1045A>G (p.Thr349Ala)
|
rs1567818564
|
|
|
NM_058216.3(RAD51C):c.1047T>G (p.Thr349=)
|
rs2144060685
|
|
|
NM_058216.3(RAD51C):c.1048G>A (p.Val350Ile)
|
rs1473651696
|
|
|
NM_058216.3(RAD51C):c.1048G>C (p.Val350Leu)
|
|
|
|
NM_058216.3(RAD51C):c.1048G>T (p.Val350Phe)
|
rs1473651696
|
|
|
NM_058216.3(RAD51C):c.1048GTT[3] (p.Val351dup)
|
rs2049560991
|
|
|
NM_058216.3(RAD51C):c.104C>G (p.Ala35Gly)
|
rs1555592011
|
|
|
NM_058216.3(RAD51C):c.104C>T (p.Ala35Val)
|
rs1555592011
|
|
|
NM_058216.3(RAD51C):c.1054A>T (p.Thr352Ser)
|
|
|
|
NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs)
|
rs1064792966
|
|
|
NM_058216.3(RAD51C):c.1058C>A (p.Ser353Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.1059T>C (p.Ser353=)
|
rs1399862812
|
|
|
NM_058216.3(RAD51C):c.105T>C (p.Ala35=)
|
rs2143678775
|
|
|
NM_058216.3(RAD51C):c.1060G>A (p.Ala354Thr)
|
rs1060502590
|
|
|
NM_058216.3(RAD51C):c.1063T>C (p.Cys355Arg)
|
rs587782426
|
|
|
NM_058216.3(RAD51C):c.1067C>T (p.Ser356Leu)
|
rs773843495
|
|
|
NM_058216.3(RAD51C):c.1068A>G (p.Ser356=)
|
|
|
|
NM_058216.3(RAD51C):c.1069T>C (p.Leu357=)
|
rs1598540135
|
|
|
NM_058216.3(RAD51C):c.1070T>G (p.Leu357Trp)
|
|
|
|
NM_058216.3(RAD51C):c.1071G>A (p.Leu357=)
|
|
|
|
NM_058216.3(RAD51C):c.1072C>A (p.Gln358Lys)
|
|
|
|
NM_058216.3(RAD51C):c.1072C>G (p.Gln358Glu)
|
rs2049563238
|
|
|
NM_058216.3(RAD51C):c.1072C>T (p.Gln358Ter)
|
|
|
|
NM_058216.3(RAD51C):c.1073A>G (p.Gln358Arg)
|
rs1567818677
|
|
|
NM_058216.3(RAD51C):c.1073A>T (p.Gln358Leu)
|
rs1567818677
|
|
|
NM_058216.3(RAD51C):c.1074_1110del (p.Glu360fs)
|
rs1343626760
|
|
|
NM_058216.3(RAD51C):c.1075A>G (p.Thr359Ala)
|
|
|
|
NM_058216.3(RAD51C):c.1075A>T (p.Thr359Ser)
|
rs1368752573
|
|
|
NM_058216.3(RAD51C):c.1076C>T (p.Thr359Ile)
|
|
|
|
NM_058216.3(RAD51C):c.1080del (p.Gly361fs)
|
|
|
|
NM_058216.3(RAD51C):c.1082G>A (p.Gly361Asp)
|
rs2049564193
|
|
|
NM_058216.3(RAD51C):c.1082G>T (p.Gly361Val)
|
|
|
|
NM_058216.3(RAD51C):c.1085C>T (p.Ser362Phe)
|
rs2049564336
|
|
|
NM_058216.3(RAD51C):c.1086C>T (p.Ser362=)
|
rs1555605583
|
|
|
NM_058216.3(RAD51C):c.1087T>C (p.Leu363=)
|
|
|
|
NM_058216.3(RAD51C):c.1088T>C (p.Leu363Ser)
|
rs2144062004
|
|
|
NM_058216.3(RAD51C):c.108G>A (p.Glu36=)
|
|
|
|
NM_058216.3(RAD51C):c.1090A>C (p.Ser364Arg)
|
rs587782565
|
|
|
NM_058216.3(RAD51C):c.1091G>A (p.Ser364Asn)
|
|
|
|
NM_058216.3(RAD51C):c.1092C>G (p.Ser364Arg)
|
rs863224805
|
|
|
NM_058216.3(RAD51C):c.1092C>T (p.Ser364=)
|
rs863224805
|
|
|
NM_058216.3(RAD51C):c.1093A>C (p.Thr365Pro)
|
rs1350543873
|
|
|
NM_058216.3(RAD51C):c.1093A>T (p.Thr365Ser)
|
rs1350543873
|
|
|
NM_058216.3(RAD51C):c.1094C>A (p.Thr365Asn)
|
rs755838887
|
|
|
NM_058216.3(RAD51C):c.1094C>G (p.Thr365Ser)
|
rs755838887
|
|
|
NM_058216.3(RAD51C):c.1094C>T (p.Thr365Ile)
|
rs755838887
|
|
|
NM_058216.3(RAD51C):c.1097G>C (p.Arg366Pro)
|
rs577852020
|
|
|
NM_058216.3(RAD51C):c.1098G>A (p.Arg366=)
|
|
|
|
NM_058216.3(RAD51C):c.1098G>C (p.Arg366=)
|
rs1555605608
|
|
|
NM_058216.3(RAD51C):c.1098del (p.Lys367fs)
|
rs2144062356
|
|
|
NM_058216.3(RAD51C):c.1099A>C (p.Lys367Gln)
|
rs1598540332
|
|
|
NM_058216.3(RAD51C):c.109G>A (p.Glu37Lys)
|
|
|
|
NM_058216.3(RAD51C):c.109G>C (p.Glu37Gln)
|
rs1064794145
|
|
|
NM_058216.3(RAD51C):c.109del (p.Glu37fs)
|
|
|
|
NM_058216.3(RAD51C):c.10A>C (p.Lys4Gln)
|
|
|
|
NM_058216.3(RAD51C):c.10A>G (p.Lys4Glu)
|
|
|
|
NM_058216.3(RAD51C):c.1101A>G (p.Lys367=)
|
|
|
|
NM_058216.3(RAD51C):c.1103G>A (p.Arg368Gln)
|
rs1378390389
|
|
|
NM_058216.3(RAD51C):c.1103G>T (p.Arg368Leu)
|
rs1378390389
|
|
|
NM_058216.3(RAD51C):c.1104G>A (p.Arg368=)
|
|
|
|
NM_058216.3(RAD51C):c.1106C>T (p.Ser369Leu)
|
rs2049566471
|
|
|
NM_058216.3(RAD51C):c.1107A>G (p.Ser369=)
|
rs1555605619
|
|
|
NM_058216.3(RAD51C):c.1108C>A (p.Arg370=)
|
rs756744016
|
|
|
NM_058216.3(RAD51C):c.1108C>G (p.Arg370Gly)
|
|
|
|
NM_058216.3(RAD51C):c.1110A>T (p.Arg370=)
|
rs1567818815
|
|
|
NM_058216.3(RAD51C):c.1111G>A (p.Asp371Asn)
|
|
|
|
NM_058216.3(RAD51C):c.1111_1112del (p.Asp371fs)
|
|
|
|
NM_058216.3(RAD51C):c.1113C>A (p.Asp371Glu)
|
rs1598540411
|
|
|
NM_058216.3(RAD51C):c.1113C>G (p.Asp371Glu)
|
rs1598540411
|
|
|
NM_058216.3(RAD51C):c.1113C>T (p.Asp371=)
|
rs1598540411
|
|
|
NM_058216.3(RAD51C):c.1114C>A (p.Pro372Thr)
|
|
|
|
NM_058216.3(RAD51C):c.1119G>A (p.Glu373=)
|
rs786202691
|
|
|
NM_058216.3(RAD51C):c.111A>G (p.Glu37=)
|
rs1365140814
|
|
|
NM_058216.3(RAD51C):c.1120G>A (p.Glu374Lys)
|
rs1598540478
|
|
|
NM_058216.3(RAD51C):c.1123G>A (p.Glu375Lys)
|
rs1555605640
|
|
|
NM_058216.3(RAD51C):c.1125A>G (p.Glu375=)
|
|
|
|
NM_058216.3(RAD51C):c.1126T>A (p.Leu376Ile)
|
rs864622632
|
|
|
NM_058216.3(RAD51C):c.1126T>C (p.Leu376=)
|
rs864622632
|
|
|
NM_058216.3(RAD51C):c.1127_1129del (p.Leu376del)
|
rs1232402052
|
|
|
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)
|
rs545024029
|
|
|
NM_058216.3(RAD51C):c.112C>T (p.Leu38Phe)
|
|
|
|
NM_058216.3(RAD51C):c.113T>C (p.Leu38Pro)
|
rs1555592021
|
|
|
NM_058216.3(RAD51C):c.114C>T (p.Leu38=)
|
rs786202265
|
|
|
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val)
|
rs759149207
|
|
|
NM_058216.3(RAD51C):c.115C>T (p.Leu39=)
|
rs759149207
|
|
|
NM_058216.3(RAD51C):c.116T>G (p.Leu39Arg)
|
|
|
|
NM_058216.3(RAD51C):c.117A>G (p.Leu39=)
|
rs1158024242
|
|
|
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys)
|
rs786204086
|
|
|
NM_058216.3(RAD51C):c.119A>G (p.Glu40Gly)
|
rs1555592039
|
|
|
NM_058216.3(RAD51C):c.11A>G (p.Lys4Arg)
|
rs2047798678
|
|
|
NM_058216.3(RAD51C):c.120G>A (p.Glu40=)
|
|
|
|
NM_058216.3(RAD51C):c.120G>C (p.Glu40Asp)
|
rs2143679565
|
|
|
NM_058216.3(RAD51C):c.121G>T (p.Val41Leu)
|
rs879254131
|
|
|
NM_058216.3(RAD51C):c.122T>C (p.Val41Ala)
|
|
|
|
NM_058216.3(RAD51C):c.126A>G (p.Lys42=)
|
rs1278628494
|
|
|
NM_058216.3(RAD51C):c.127C>A (p.Pro43Thr)
|
rs1442559963
|
|
|
NM_058216.3(RAD51C):c.127C>G (p.Pro43Ala)
|
|
|
|
NM_058216.3(RAD51C):c.127C>T (p.Pro43Ser)
|
rs1442559963
|
|
|
NM_058216.3(RAD51C):c.129C>G (p.Pro43=)
|
rs1555592066
|
|
|
NM_058216.3(RAD51C):c.129C>T (p.Pro43=)
|
|
|
|
NM_058216.3(RAD51C):c.12G>C (p.Lys4Asn)
|
|
|
|
NM_058216.3(RAD51C):c.131C>A (p.Ser44Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.131C>T (p.Ser44Phe)
|
|
|
|
NM_058216.3(RAD51C):c.132C>T (p.Ser44=)
|
rs1027059784
|
|
|
NM_058216.3(RAD51C):c.132_133delinsTA (p.Glu45Lys)
|
rs1555592076
|
|
|
NM_058216.3(RAD51C):c.133G>A (p.Glu45Lys)
|
|
|
|
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)
|
rs1598449660
|
|
|
NM_058216.3(RAD51C):c.134A>C (p.Glu45Ala)
|
rs587781383
|
|
|
NM_058216.3(RAD51C):c.135G>A (p.Glu45=)
|
rs371608994
|
|
|
NM_058216.3(RAD51C):c.135G>C (p.Glu45Asp)
|
rs371608994
|
|
|
NM_058216.3(RAD51C):c.136C>A (p.Leu46Ile)
|
rs1423724305
|
|
|
NM_058216.3(RAD51C):c.137T>C (p.Leu46Pro)
|
|
|
|
NM_058216.3(RAD51C):c.139A>C (p.Ser47Arg)
|
rs2047818737
|
|
|
NM_058216.3(RAD51C):c.139A>G (p.Ser47Gly)
|
rs2047818737
|
|
|
NM_058216.3(RAD51C):c.13A>G (p.Thr5Ala)
|
|
|
|
NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser)
|
rs1314517659
|
|
|
NM_058216.3(RAD51C):c.140G>A (p.Ser47Asn)
|
rs2047818916
|
|
|
NM_058216.3(RAD51C):c.141C>A (p.Ser47Arg)
|
|
|
|
NM_058216.3(RAD51C):c.142A>G (p.Lys48Glu)
|
|
|
|
NM_058216.3(RAD51C):c.142_144del (p.Lys48del)
|
|
|
|
NM_058216.3(RAD51C):c.143A>G (p.Lys48Arg)
|
rs2143680972
|
|
|
NM_058216.3(RAD51C):c.144A>G (p.Lys48=)
|
|
|
|
NM_058216.3(RAD51C):c.145+10C>A
|
|
|
|
NM_058216.3(RAD51C):c.145+10C>G
|
|
|
|
NM_058216.3(RAD51C):c.145+10C>T
|
|
|
|
NM_058216.3(RAD51C):c.145+11C>T
|
|
|
|
NM_058216.3(RAD51C):c.145+12T>C
|
|
|
|
NM_058216.3(RAD51C):c.145+13G>C
|
rs1177750681
|
|
|
NM_058216.3(RAD51C):c.145+14A>G
|
rs1567783355
|
|
|
NM_058216.3(RAD51C):c.145+15T>C
|
rs780116924
|
|
|
NM_058216.3(RAD51C):c.145+16G>A
|
rs1471520258
|
|
|
NM_058216.3(RAD51C):c.145+17G>A
|
rs369854656
|
|
|
NM_058216.3(RAD51C):c.145+17G>T
|
rs369854656
|
|
|
NM_058216.3(RAD51C):c.145+18C>A
|
|
|
|
NM_058216.3(RAD51C):c.145+18C>T
|
rs763292447
|
|
|
NM_058216.3(RAD51C):c.145+19A>G
|
|
|
|
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.145+2_145+3insTT
|
rs1567783294
|
|
|
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG
|
rs878855177
|
|
|
NM_058216.3(RAD51C):c.145+3A>G
|
rs536596205
|
|
|
NM_058216.3(RAD51C):c.145+4A>G
|
rs1598449822
|
|
|
NM_058216.3(RAD51C):c.145+4dup
|
|
|
|
NM_058216.3(RAD51C):c.145+7_145+17del
|
rs2143681500
|
|
|
NM_058216.3(RAD51C):c.145+8C>T
|
rs1555592121
|
|
|
NM_058216.3(RAD51C):c.145G>A (p.Glu49Lys)
|
rs753709131
|
|
|
NM_058216.3(RAD51C):c.146-15T>G
|
|
|
|
NM_058216.3(RAD51C):c.146-17T>C
|
|
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
|
NM_058216.3(RAD51C):c.146-3C>G
|
rs765143155
|
|
|
NM_058216.3(RAD51C):c.146-4T>C
|
rs2143716945
|
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
|
NM_058216.3(RAD51C):c.146-8A>C
|
rs201079501
|
|
|
NM_058216.3(RAD51C):c.146-9T>A
|
|
|
|
NM_058216.3(RAD51C):c.146-9T>G
|
rs2143716823
|
|
|
NM_058216.3(RAD51C):c.146-9del
|
|
|
|
NM_058216.3(RAD51C):c.14C>G (p.Thr5Arg)
|
rs201523760
|
|
|
NM_058216.3(RAD51C):c.151G>A (p.Gly51Arg)
|
|
|
|
NM_058216.3(RAD51C):c.152G>C (p.Gly51Ala)
|
rs758236529
|
|
|
NM_058216.3(RAD51C):c.152G>T (p.Gly51Val)
|
rs758236529
|
|
|
NM_058216.3(RAD51C):c.153G>A (p.Gly51=)
|
rs2143717416
|
|
|
NM_058216.3(RAD51C):c.154A>G (p.Ile52Val)
|
rs730881927
|
|
|
NM_058216.3(RAD51C):c.155T>A (p.Ile52Lys)
|
|
|
|
NM_058216.3(RAD51C):c.155T>G (p.Ile52Arg)
|
rs2143717510
|
|
|
NM_058216.3(RAD51C):c.156A>G (p.Ile52Met)
|
rs2047940282
|
|
|
NM_058216.3(RAD51C):c.157T>C (p.Ser53Pro)
|
rs2047940381
|
|
|
NM_058216.3(RAD51C):c.158C>G (p.Ser53Cys)
|
rs876659265
|
|
|
NM_058216.3(RAD51C):c.158del (p.Ser53fs)
|
rs587782533
|
|
|
NM_058216.3(RAD51C):c.15G>A (p.Thr5=)
|
|
|
|
NM_058216.3(RAD51C):c.160A>G (p.Lys54Glu)
|
rs2047940709
|
|
|
NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter)
|
rs2047940709
|
|
|
NM_058216.3(RAD51C):c.163G>A (p.Ala55Thr)
|
rs1555593472
|
|
|
NM_058216.3(RAD51C):c.165A>G (p.Ala55=)
|
|
|
|
NM_058216.3(RAD51C):c.167A>G (p.Glu56Gly)
|
rs1567785734
|
|
|
NM_058216.3(RAD51C):c.168A>T (p.Glu56Asp)
|
|
|
|
NM_058216.3(RAD51C):c.168del (p.Ala57fs)
|
rs2143717943
|
|
|
NM_058216.3(RAD51C):c.169G>A (p.Ala57Thr)
|
rs1567785745
|
|
|
NM_058216.3(RAD51C):c.169G>T (p.Ala57Ser)
|
rs1567785745
|
|
|
NM_058216.3(RAD51C):c.170C>G (p.Ala57Gly)
|
rs1598455307
|
|
|
NM_058216.3(RAD51C):c.174A>G (p.Leu58=)
|
rs2143718204
|
|
|
NM_058216.3(RAD51C):c.175G>A (p.Glu59Lys)
|
rs2143718252
|
|
|
NM_058216.3(RAD51C):c.178A>G (p.Thr60Ala)
|
rs2047941918
|
|
|
NM_058216.3(RAD51C):c.17T>A (p.Phe6Tyr)
|
rs771332058
|
|
|
NM_058216.3(RAD51C):c.17T>G (p.Phe6Cys)
|
rs771332058
|
|
|
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)
|
rs786203945
|
|
|
NM_058216.3(RAD51C):c.181_189del (p.Leu61_Ile63del)
|
|
|
|
NM_058216.3(RAD51C):c.183G>A (p.Leu61=)
|
rs200531489
|
|
|
NM_058216.3(RAD51C):c.186A>C (p.Gln62His)
|
rs28363303
|
|
|
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)
|
rs587782170
|
|
|
NM_058216.3(RAD51C):c.187A>G (p.Ile63Val)
|
rs876659694
|
|
|
NM_058216.3(RAD51C):c.189T>A (p.Ile63=)
|
rs730881923
|
|
|
NM_058216.3(RAD51C):c.189T>C (p.Ile63=)
|
rs730881923
|
|
|
NM_058216.3(RAD51C):c.189_191del (p.Ile64del)
|
rs1555593498
|
|
|
NM_058216.3(RAD51C):c.18C>A (p.Phe6Leu)
|
rs774685897
|
|
|
NM_058216.3(RAD51C):c.18C>G (p.Phe6Leu)
|
rs774685897
|
|
|
NM_058216.3(RAD51C):c.18C>T (p.Phe6=)
|
rs774685897
|
|
|
NM_058216.3(RAD51C):c.190A>G (p.Ile64Val)
|
rs770335248
|
|
|
NM_058216.3(RAD51C):c.190A>T (p.Ile64Phe)
|
rs770335248
|
|
|
NM_058216.3(RAD51C):c.191T>C (p.Ile64Thr)
|
rs1555593511
|
|
|
NM_058216.3(RAD51C):c.192C>T (p.Ile64=)
|
rs2143719037
|
|
|
NM_058216.3(RAD51C):c.193A>G (p.Arg65Gly)
|
rs1227348505
|
|
|
NM_058216.3(RAD51C):c.198A>T (p.Arg66Ser)
|
rs1060502585
|
|
|
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)
|
rs1567785872
|
|
|
NM_058216.3(RAD51C):c.19C>G (p.Arg7Gly)
|
rs759759863
|
|
|
NM_058216.3(RAD51C):c.19C>T (p.Arg7Cys)
|
rs759759863
|
|
|
NM_058216.3(RAD51C):c.1A>T (p.Met1Leu)
|
rs921435798
|
|
|
NM_058216.3(RAD51C):c.201A>G (p.Glu67=)
|
rs1598455493
|
|
|
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)
|
rs1567785888
|
|
|
NM_058216.3(RAD51C):c.206T>C (p.Leu69Pro)
|
rs1555593527
|
|
|
NM_058216.3(RAD51C):c.207C>A (p.Leu69=)
|
|
|
|
NM_058216.3(RAD51C):c.207C>T (p.Leu69=)
|
rs1057523582
|
|
|
NM_058216.3(RAD51C):c.208A>T (p.Thr70Ser)
|
|
|
|
NM_058216.3(RAD51C):c.209C>T (p.Thr70Ile)
|
rs1060502599
|
|
|
NM_058216.3(RAD51C):c.209_210del (p.Thr70fs)
|
|
|
|
NM_058216.3(RAD51C):c.20G>C (p.Arg7Pro)
|
rs892567748
|
|
|
NM_058216.3(RAD51C):c.20G>T (p.Arg7Leu)
|
rs892567748
|
|
|
NM_058216.3(RAD51C):c.210A>G (p.Thr70=)
|
|
|
|
NM_058216.3(RAD51C):c.211A>C (p.Asn71His)
|
rs876659936
|
|
|
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr)
|
rs876659936
|
|
|
NM_058216.3(RAD51C):c.212A>C (p.Asn71Thr)
|
rs1598455555
|
|
|
NM_058216.3(RAD51C):c.212A>G (p.Asn71Ser)
|
rs1598455555
|
|
|
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs)
|
rs786202563
|
|
|
NM_058216.3(RAD51C):c.217C>A (p.Pro73Thr)
|
rs1555593541
|
|
|
NM_058216.3(RAD51C):c.217C>G (p.Pro73Ala)
|
rs1555593541
|
|
|
NM_058216.3(RAD51C):c.217C>T (p.Pro73Ser)
|
rs1555593541
|
|
|
NM_058216.3(RAD51C):c.21C>A (p.Arg7=)
|
rs1443654986
|
|
|
NM_058216.3(RAD51C):c.221G>A (p.Arg74Lys)
|
rs2143720177
|
|
|
NM_058216.3(RAD51C):c.222A>C (p.Arg74Ser)
|
|
|
|
NM_058216.3(RAD51C):c.222A>G (p.Arg74=)
|
rs2047945471
|
|
|
NM_058216.3(RAD51C):c.224A>G (p.Tyr75Cys)
|
rs2047945655
|
|
|
NM_058216.3(RAD51C):c.224A>T (p.Tyr75Phe)
|
|
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
|
NM_058216.3(RAD51C):c.225T>C (p.Tyr75=)
|
rs1555593553
|
|
|
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter)
|
rs1555593553
|
|
|
NM_058216.3(RAD51C):c.226G>A (p.Ala76Thr)
|
rs1598455619
|
|
|
NM_058216.3(RAD51C):c.227C>A (p.Ala76Asp)
|
rs760175119
|
|
|
NM_058216.3(RAD51C):c.227C>G (p.Ala76Gly)
|
rs760175119
|
|
|
NM_058216.3(RAD51C):c.229G>T (p.Gly77Cys)
|
rs2143720670
|
|
|
NM_058216.3(RAD51C):c.22T>A (p.Phe8Ile)
|
|
|
|
NM_058216.3(RAD51C):c.22T>C (p.Phe8Leu)
|
|
|
|
NM_058216.3(RAD51C):c.230G>C (p.Gly77Ala)
|
rs1449359018
|
|
|
NM_058216.3(RAD51C):c.234A>C (p.Thr78=)
|
rs730881929
|
|
|
NM_058216.3(RAD51C):c.235T>A (p.Ser79Thr)
|
rs1567786001
|
|
|
NM_058216.3(RAD51C):c.235T>G (p.Ser79Ala)
|
|
|
|
NM_058216.3(RAD51C):c.236C>G (p.Ser79Cys)
|
|
|
|
NM_058216.3(RAD51C):c.236C>T (p.Ser79Phe)
|
rs1555593569
|
|
|
NM_058216.3(RAD51C):c.237T>A (p.Ser79=)
|
|
|
|
NM_058216.3(RAD51C):c.237T>C (p.Ser79=)
|
rs1555593575
|
|
|
NM_058216.3(RAD51C):c.237T>G (p.Ser79=)
|
rs1555593575
|
|
|
NM_058216.3(RAD51C):c.240G>T (p.Glu80Asp)
|
rs779053608
|
|
|
NM_058216.3(RAD51C):c.242C>T (p.Ser81Leu)
|
rs1555593587
|
|
|
NM_058216.3(RAD51C):c.244C>T (p.His82Tyr)
|
rs1555593593
|
|
|
NM_058216.3(RAD51C):c.245A>G (p.His82Arg)
|
rs1555593600
|
|
|
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs)
|
rs2143721294
|
|
|
NM_058216.3(RAD51C):c.246C>G (p.His82Gln)
|
rs1555593602
|
|
|
NM_058216.3(RAD51C):c.246C>T (p.His82=)
|
rs1555593602
|
|
|
NM_058216.3(RAD51C):c.247A>G (p.Lys83Glu)
|
rs2047947712
|
|
|
NM_058216.3(RAD51C):c.248A>C (p.Lys83Thr)
|
rs1333679774
|
|
|
NM_058216.3(RAD51C):c.249G>A (p.Lys83=)
|
rs145387081
|
|
|
NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn)
|
rs145387081
|
|
|
NM_058216.3(RAD51C):c.24T>A (p.Phe8Leu)
|
rs587782698
|
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
|
NM_058216.3(RAD51C):c.251A>G (p.Lys84Arg)
|
rs1372016419
|
|
|
NM_058216.3(RAD51C):c.252G>A (p.Lys84=)
|
rs786202890
|
|
|
NM_058216.3(RAD51C):c.253T>G (p.Cys85Gly)
|
rs1060502595
|
|
|
NM_058216.3(RAD51C):c.254G>A (p.Cys85Tyr)
|
rs1555593627
|
|
|
NM_058216.3(RAD51C):c.254G>T (p.Cys85Phe)
|
|
|
|
NM_058216.3(RAD51C):c.255T>C (p.Cys85=)
|
rs1318657498
|
|
|
NM_058216.3(RAD51C):c.256A>G (p.Thr86Ala)
|
|
|
|
NM_058216.3(RAD51C):c.257C>A (p.Thr86Lys)
|
|
|
|
NM_058216.3(RAD51C):c.257C>T (p.Thr86Ile)
|
rs876658986
|
|
|
NM_058216.3(RAD51C):c.258A>G (p.Thr86=)
|
|
|
|
NM_058216.3(RAD51C):c.259G>A (p.Ala87Thr)
|
rs1598455803
|
|
|
NM_058216.3(RAD51C):c.259G>T (p.Ala87Ser)
|
rs1598455803
|
|
|
NM_058216.3(RAD51C):c.260C>A (p.Ala87Glu)
|
rs1567786127
|
|
|
NM_058216.3(RAD51C):c.261A>G (p.Ala87=)
|
rs2143722092
|
|
|
NM_058216.3(RAD51C):c.262C>G (p.Leu88Val)
|
rs786201383
|
|
|
NM_058216.3(RAD51C):c.262C>T (p.Leu88=)
|
rs786201383
|
|
|
NM_058216.3(RAD51C):c.264G>A (p.Leu88=)
|
rs2047949173
|
|
|
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys)
|
rs876658197
|
|
|
NM_058216.3(RAD51C):c.265G>C (p.Glu89Gln)
|
rs876658197
|
|
|
NM_058216.3(RAD51C):c.266A>G (p.Glu89Gly)
|
rs2047949402
|
|
|
NM_058216.3(RAD51C):c.268C>T (p.Leu90Phe)
|
rs876659585
|
|
|
NM_058216.3(RAD51C):c.269T>G (p.Leu90Arg)
|
rs1064793934
|
|
|
NM_058216.3(RAD51C):c.26A>T (p.Glu9Val)
|
rs2143673258
|
|
|
NM_058216.3(RAD51C):c.270T>A (p.Leu90=)
|
rs1555593651
|
|
|
NM_058216.3(RAD51C):c.270T>C (p.Leu90=)
|
rs1555593651
|
|
|
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe)
|
rs1555593653
|
|
|
NM_058216.3(RAD51C):c.274G>A (p.Glu92Lys)
|
rs765304898
|
|
|
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.278A>C (p.Gln93Pro)
|
|
|
|
NM_058216.3(RAD51C):c.278A>G (p.Gln93Arg)
|
|
|
|
NM_058216.3(RAD51C):c.279G>A (p.Gln93=)
|
rs2143722921
|
|
|
NM_058216.3(RAD51C):c.280G>A (p.Glu94Lys)
|
rs1277411638
|
|
|
NM_058216.3(RAD51C):c.282G>A (p.Glu94=)
|
rs2047950465
|
|
|
NM_058216.3(RAD51C):c.283C>T (p.His95Tyr)
|
rs1317173760
|
|
|
NM_058216.3(RAD51C):c.284A>C (p.His95Pro)
|
rs1567786210
|
|
|
NM_058216.3(RAD51C):c.284A>G (p.His95Arg)
|
|
|
|
NM_058216.3(RAD51C):c.285T>G (p.His95Gln)
|
rs1555593678
|
|
|
NM_058216.3(RAD51C):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_058216.3(RAD51C):c.287C>T (p.Thr96Ile)
|
|
|
|
NM_058216.3(RAD51C):c.288C>A (p.Thr96=)
|
rs143180709
|
|
|
NM_058216.3(RAD51C):c.289C>G (p.Gln97Glu)
|
rs1567786232
|
|
|
NM_058216.3(RAD51C):c.28A>G (p.Met10Val)
|
|
|
|
NM_058216.3(RAD51C):c.290A>G (p.Gln97Arg)
|
rs2047951391
|
|
|
NM_058216.3(RAD51C):c.291G>C (p.Gln97His)
|
|
|
|
NM_058216.3(RAD51C):c.293G>C (p.Gly98Ala)
|
rs1060502586
|
|
|
NM_058216.3(RAD51C):c.293G>T (p.Gly98Val)
|
rs1060502586
|
|
|
NM_058216.3(RAD51C):c.294C>A (p.Gly98=)
|
|
|
|
NM_058216.3(RAD51C):c.296_297delinsCT (p.Phe99Ser)
|
rs1555593696
|
|
|
NM_058216.3(RAD51C):c.298A>G (p.Ile100Val)
|
|
|
|
NM_058216.3(RAD51C):c.299T>A (p.Ile100Lys)
|
rs1567786268
|
|
|
NM_058216.3(RAD51C):c.29T>A (p.Met10Lys)
|
|
|
|
NM_058216.3(RAD51C):c.29T>C (p.Met10Thr)
|
rs730881936
|
|
|
NM_058216.3(RAD51C):c.301A>G (p.Ile101Val)
|
rs1555593699
|
|
|
NM_058216.3(RAD51C):c.303C>A (p.Ile101=)
|
|
|
|
NM_058216.3(RAD51C):c.303C>T (p.Ile101=)
|
rs751840489
|
|
|
NM_058216.3(RAD51C):c.304A>G (p.Thr102Ala)
|
rs2143723786
|
|
|
NM_058216.3(RAD51C):c.305C>A (p.Thr102Asn)
|
rs755106004
|
|
|
NM_058216.3(RAD51C):c.305C>T (p.Thr102Ile)
|
rs755106004
|
|
|
NM_058216.3(RAD51C):c.306C>T (p.Thr102=)
|
rs1567786291
|
|
|
NM_058216.3(RAD51C):c.307T>C (p.Phe103Leu)
|
rs1114167446
|
|
|
NM_058216.3(RAD51C):c.308_310del (p.Phe103del)
|
rs1064794253
|
|
|
NM_058216.3(RAD51C):c.309C>G (p.Phe103Leu)
|
rs1484551212
|
|
|
NM_058216.3(RAD51C):c.30G>T (p.Met10Ile)
|
rs775871420
|
|
|
NM_058216.3(RAD51C):c.311G>A (p.Cys104Tyr)
|
rs1598456075
|
|
|
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.316G>A (p.Ala106Thr)
|
rs2143724307
|
|
|
NM_058216.3(RAD51C):c.317C>G (p.Ala106Gly)
|
|
|
|
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val)
|
rs1060502594
|
|
|
NM_058216.3(RAD51C):c.318A>C (p.Ala106=)
|
rs781371468
|
|
|
NM_058216.3(RAD51C):c.319C>G (p.Leu107Val)
|
|
|
|
NM_058216.3(RAD51C):c.319C>T (p.Leu107=)
|
rs752817595
|
|
|
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter)
|
rs1567782755
|
|
|
NM_058216.3(RAD51C):c.322G>C (p.Asp108His)
|
rs1567786361
|
|
|
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)
|
rs1555593745
|
|
|
NM_058216.3(RAD51C):c.325G>T (p.Asp109Tyr)
|
rs778313181
|
|
|
NM_058216.3(RAD51C):c.326A>G (p.Asp109Gly)
|
|
|
|
NM_058216.3(RAD51C):c.328A>G (p.Ile110Val)
|
|
|
|
NM_058216.3(RAD51C):c.329T>G (p.Ile110Ser)
|
rs1555593751
|
|
|
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)
|
rs730881937
|
|
|
NM_058216.3(RAD51C):c.331C>G (p.Leu111Val)
|
rs1402638488
|
|
|
NM_058216.3(RAD51C):c.332T>C (p.Leu111Pro)
|
|
|
|
NM_058216.3(RAD51C):c.333T>C (p.Leu111=)
|
rs1598456183
|
|
|
NM_058216.3(RAD51C):c.334G>T (p.Gly112Trp)
|
|
|
|
NM_058216.3(RAD51C):c.335G>A (p.Gly112Glu)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.335G>T (p.Gly112Val)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.336G>C (p.Gly112=)
|
rs746122031
|
|
|
NM_058216.3(RAD51C):c.337G>C (p.Gly113Arg)
|
rs2047954842
|
|
|
NM_058216.3(RAD51C):c.337G>T (p.Gly113Cys)
|
rs2047954842
|
|
|
NM_058216.3(RAD51C):c.338G>A (p.Gly113Asp)
|
rs2047954937
|
|
|
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
|
|
|
|
NM_058216.3(RAD51C):c.339T>C (p.Gly113=)
|
rs2143725217
|
|
|
NM_058216.3(RAD51C):c.33G>A (p.Gln11=)
|
rs748248444
|
|
|
NM_058216.3(RAD51C):c.33G>C (p.Gln11His)
|
|
|
|
NM_058216.3(RAD51C):c.341G>T (p.Gly114Val)
|
rs1555593767
|
|
|
NM_058216.3(RAD51C):c.342A>G (p.Gly114=)
|
rs1555593777
|
|
|
NM_058216.3(RAD51C):c.343G>A (p.Val115Met)
|
rs1202473484
|
|
|
NM_058216.3(RAD51C):c.343G>C (p.Val115Leu)
|
|
|
|
NM_058216.3(RAD51C):c.344T>C (p.Val115Ala)
|
rs779104845
|
|
|
NM_058216.3(RAD51C):c.345G>A (p.Val115=)
|
rs1598456274
|
|
|
NM_058216.3(RAD51C):c.346C>T (p.Pro116Ser)
|
|
|
|
NM_058216.3(RAD51C):c.347C>A (p.Pro116His)
|
rs2047955710
|
|
|
NM_058216.3(RAD51C):c.347C>G (p.Pro116Arg)
|
rs2047955710
|
|
|
NM_058216.3(RAD51C):c.347C>T (p.Pro116Leu)
|
|
|
|
NM_058216.3(RAD51C):c.348C>G (p.Pro116=)
|
rs2047955792
|
|
|
NM_058216.3(RAD51C):c.348C>T (p.Pro116=)
|
rs2047955792
|
|
|
NM_058216.3(RAD51C):c.34C>A (p.Arg12=)
|
|
|
|
NM_058216.3(RAD51C):c.34C>G (p.Arg12Gly)
|
rs28910276
|
|
|
NM_058216.3(RAD51C):c.350T>C (p.Leu117Ser)
|
rs1598456283
|
|
|
NM_058216.3(RAD51C):c.352A>G (p.Met118Val)
|
rs2143725777
|
|
|
NM_058216.3(RAD51C):c.353_356del (p.Met118fs)
|
|
|
|
NM_058216.3(RAD51C):c.356A>G (p.Lys119Arg)
|
rs2047956106
|
|
|
NM_058216.3(RAD51C):c.357A>G (p.Lys119=)
|
rs863224434
|
|
|
NM_058216.3(RAD51C):c.358ACA[1] (p.Thr121del)
|
rs1555593808
|
|
|
NM_058216.3(RAD51C):c.358dup (p.Thr120fs)
|
rs2143725868
|
|
|
NM_058216.3(RAD51C):c.362C>T (p.Thr121Ile)
|
rs2047956659
|
|
|
NM_058216.3(RAD51C):c.363_370del (p.Glu122fs)
|
|
|
|
NM_058216.3(RAD51C):c.367A>G (p.Ile123Val)
|
rs1555593841
|
|
|
NM_058216.3(RAD51C):c.369T>A (p.Ile123=)
|
rs2143726485
|
|
|
NM_058216.3(RAD51C):c.369T>C (p.Ile123=)
|
rs2143726485
|
|
|
NM_058216.3(RAD51C):c.36G>A (p.Arg12=)
|
rs876658798
|
|
|
NM_058216.3(RAD51C):c.36G>C (p.Arg12=)
|
rs876658798
|
|
|
NM_058216.3(RAD51C):c.370T>G (p.Cys124Gly)
|
rs1273995533
|
|
|
NM_058216.3(RAD51C):c.371G>C (p.Cys124Ser)
|
rs2143726574
|
|
|
NM_058216.3(RAD51C):c.371G>T (p.Cys124Phe)
|
rs2143726574
|
|
|
NM_058216.3(RAD51C):c.373G>A (p.Gly125Ser)
|
rs142058115
|
|
|
NM_058216.3(RAD51C):c.374G>A (p.Gly125Asp)
|
rs267606998
|
|
|
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)
|
rs267606998
|
|
|
NM_058216.3(RAD51C):c.375T>C (p.Gly125=)
|
|
|
|
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val)
|
rs1555593858
|
|
|
NM_058216.3(RAD51C):c.378A>C (p.Ala126=)
|
rs876658639
|
|
|
NM_058216.3(RAD51C):c.379C>G (p.Pro127Ala)
|
|
|
|
NM_058216.3(RAD51C):c.379C>T (p.Pro127Ser)
|
rs587782222
|
|
|
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)
|
rs2047958236
|
|
|
NM_058216.3(RAD51C):c.37G>A (p.Asp13Asn)
|
rs1060502603
|
|
|
NM_058216.3(RAD51C):c.37G>C (p.Asp13His)
|
rs1060502603
|
|
|
NM_058216.3(RAD51C):c.37_38insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGCAGCGGG (p.Asp13fs)
|
|
|
|
NM_058216.3(RAD51C):c.380C>G (p.Pro127Arg)
|
|
|
|
NM_058216.3(RAD51C):c.380C>T (p.Pro127Leu)
|
|
|
|
NM_058216.3(RAD51C):c.381A>G (p.Pro127=)
|
rs2143727201
|
|
|
NM_058216.3(RAD51C):c.382G>C (p.Gly128Arg)
|
rs879254160
|
|
|
NM_058216.3(RAD51C):c.383G>T (p.Gly128Val)
|
|
|
|
NM_058216.3(RAD51C):c.386T>C (p.Val129Ala)
|
rs876660641
|
|
|
NM_058216.3(RAD51C):c.388G>C (p.Gly130Arg)
|
|
|
|
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala)
|
rs2047958982
|
|
|
NM_058216.3(RAD51C):c.390A>C (p.Gly130=)
|
|
|
|
NM_058216.3(RAD51C):c.391A>C (p.Lys131Gln)
|
rs2143727680
|
|
|
NM_058216.3(RAD51C):c.392A>T (p.Lys131Ile)
|
rs762761380
|
|
|
NM_058216.3(RAD51C):c.393A>G (p.Lys131=)
|
rs1598456492
|
|
|
NM_058216.3(RAD51C):c.394del (p.Thr132fs)
|
rs730881940
|
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
|
NM_058216.3(RAD51C):c.395C>A (p.Thr132Lys)
|
|
|
|
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg)
|
rs730881930
|
|
|
NM_058216.3(RAD51C):c.396A>C (p.Thr132=)
|
rs766221834
|
|
|
NM_058216.3(RAD51C):c.396A>T (p.Thr132=)
|
rs766221834
|
|
|
NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys)
|
rs387907159
|
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
|
NM_058216.3(RAD51C):c.398A>C (p.Gln133Pro)
|
|
|
|
NM_058216.3(RAD51C):c.399A>G (p.Gln133=)
|
|
|
|
NM_058216.3(RAD51C):c.3G>C (p.Met1Ile)
|
rs769053886
|
|
|
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile)
|
rs769053886
|
|
|
NM_058216.3(RAD51C):c.400T>C (p.Leu134=)
|
rs863224435
|
|
|
NM_058216.3(RAD51C):c.401T>C (p.Leu134Ser)
|
rs1233795152
|
|
|
NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter)
|
rs1233795152
|
|
|
NM_058216.3(RAD51C):c.402A>G (p.Leu134=)
|
rs1064794121
|
|
|
NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg)
|
rs878855178
|
|
|
NM_058216.3(RAD51C):c.404+12T>G
|
|
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
|
NM_058216.3(RAD51C):c.404+15del
|
|
|
|
NM_058216.3(RAD51C):c.404+16C>T
|
rs376465837
|
|
|
NM_058216.3(RAD51C):c.404+18C>T
|
|
|
|
NM_058216.3(RAD51C):c.404+18_404+20del
|
|
|
|
NM_058216.3(RAD51C):c.404+3A>G
|
rs1060502598
|
|
|
NM_058216.3(RAD51C):c.404+5A>T
|
|
|
|
NM_058216.3(RAD51C):c.404+6A>G
|
rs2047961180
|
|
|
NM_058216.3(RAD51C):c.404+6_404+10del
|
rs757693213
|
|
|
NM_058216.3(RAD51C):c.404+7_404+10del
|
rs2143728389
|
|
|
NM_058216.3(RAD51C):c.404+8A>G
|
|
|
|
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.404G>T (p.Cys135Phe)
|
rs767796996
|
|
|
NM_058216.3(RAD51C):c.405-10C>G
|
rs748811733
|
|
|
NM_058216.3(RAD51C):c.405-15T>C
|
|
|
|
NM_058216.3(RAD51C):c.405-16A>G
|
rs2048019846
|
|
|
NM_058216.3(RAD51C):c.405-18T>C
|
rs2143742452
|
|
|
NM_058216.3(RAD51C):c.405-18T>G
|
|
|
|
NM_058216.3(RAD51C):c.405-19G>A
|
rs2143742410
|
|
|
NM_058216.3(RAD51C):c.405-1G>A
|
rs587782036
|
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
|
NM_058216.3(RAD51C):c.405-20T>G
|
|
|
|
NM_058216.3(RAD51C):c.405-2A>G
|
rs2048020646
|
|
|
NM_058216.3(RAD51C):c.405-3C>G
|
rs770815835
|
|
|
NM_058216.3(RAD51C):c.405-3C>T
|
rs770815835
|
|
|
NM_058216.3(RAD51C):c.405-5G>A
|
rs1598459949
|
|
|
NM_058216.3(RAD51C):c.405-6T>A
|
rs1064793245
|
|
|
NM_058216.3(RAD51C):c.405-8G>A
|
rs1431351072
|
|
|
NM_058216.3(RAD51C):c.405T>C (p.Cys135=)
|
rs537272666
|
|
|
NM_058216.3(RAD51C):c.405T>G (p.Cys135Trp)
|
|
|
|
NM_058216.3(RAD51C):c.406A>G (p.Met136Val)
|
|
|
|
NM_058216.3(RAD51C):c.407T>G (p.Met136Arg)
|
rs2048021034
|
|
|
NM_058216.3(RAD51C):c.408G>T (p.Met136Ile)
|
rs587780836
|
|
|
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)
|
rs2048021234
|
|
|
NM_058216.3(RAD51C):c.410A>T (p.Gln137Leu)
|
rs1555594548
|
|
|
NM_058216.3(RAD51C):c.411G>T (p.Gln137His)
|
rs1555594552
|
|
|
NM_058216.3(RAD51C):c.415G>A (p.Ala139Thr)
|
rs2048021584
|
|
|
NM_058216.3(RAD51C):c.415G>C (p.Ala139Pro)
|
rs2048021584
|
|
|
NM_058216.3(RAD51C):c.416C>T (p.Ala139Val)
|
rs1567788274
|
|
|
NM_058216.3(RAD51C):c.417A>C (p.Ala139=)
|
|
|
|
NM_058216.3(RAD51C):c.417A>G (p.Ala139=)
|
rs863224436
|
|
|
NM_058216.3(RAD51C):c.418G>A (p.Val140Ile)
|
rs730881938
|
|
|
NM_058216.3(RAD51C):c.419T>A (p.Val140Glu)
|
rs767247010
|
|
|
NM_058216.3(RAD51C):c.420A>G (p.Val140=)
|
rs1060504672
|
|
|
NM_058216.3(RAD51C):c.421G>A (p.Asp141Asn)
|
rs587780837
|
|
|
NM_058216.3(RAD51C):c.422A>G (p.Asp141Gly)
|
rs376494695
|
|
|
NM_058216.3(RAD51C):c.423T>C (p.Asp141=)
|
rs2048022400
|
|
|
NM_058216.3(RAD51C):c.423T>G (p.Asp141Glu)
|
rs2048022400
|
|
|
NM_058216.3(RAD51C):c.425T>C (p.Val142Ala)
|
rs2143744027
|
|
|
NM_058216.3(RAD51C):c.429G>A (p.Gln143=)
|
rs2143744196
|
|
|
NM_058216.3(RAD51C):c.42G>A (p.Leu14=)
|
rs1598448777
|
|
|
NM_058216.3(RAD51C):c.430A>T (p.Ile144Leu)
|
rs1271229750
|
|
|
NM_058216.3(RAD51C):c.433C>A (p.Pro145Thr)
|
rs1555594594
|
|
|
NM_058216.3(RAD51C):c.433C>T (p.Pro145Ser)
|
rs1555594594
|
|
|
NM_058216.3(RAD51C):c.438A>G (p.Glu146=)
|
rs876660817
|
|
|
NM_058216.3(RAD51C):c.439T>C (p.Cys147Arg)
|
rs2048023614
|
|
|
NM_058216.3(RAD51C):c.440G>A (p.Cys147Tyr)
|
rs764177838
|
|
|
NM_058216.3(RAD51C):c.443T>C (p.Phe148Ser)
|
rs864622580
|
|
|
NM_058216.3(RAD51C):c.444del (p.Phe148fs)
|
rs1555594617
|
|
|
NM_058216.3(RAD51C):c.444dup (p.Gly149fs)
|
rs1555594617
|
|
|
NM_058216.3(RAD51C):c.446G>A (p.Gly149Glu)
|
rs1555594622
|
|
|
NM_058216.3(RAD51C):c.446GAG[1] (p.Gly150del)
|
rs2048024043
|
|
|
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
|
rs1598460178
|
|
|
NM_058216.3(RAD51C):c.448G>A (p.Gly150Arg)
|
rs553112850
|
|
|
NM_058216.3(RAD51C):c.44T>C (p.Val15Ala)
|
rs1060502593
|
|
|
NM_058216.3(RAD51C):c.44T>G (p.Val15Gly)
|
rs1060502593
|
|
|
NM_058216.3(RAD51C):c.454G>A (p.Ala152Thr)
|
rs1555594643
|
|
|
NM_058216.3(RAD51C):c.454G>T (p.Ala152Ser)
|
rs1555594643
|
|
|
NM_058216.3(RAD51C):c.456A>G (p.Ala152=)
|
|
|
|
NM_058216.3(RAD51C):c.45G>A (p.Val15=)
|
rs1598448793
|
|
|
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly)
|
rs758847241
|
|
|
NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr)
|
rs755879664
|
|
|
NM_058216.3(RAD51C):c.464C>G (p.Ala155Gly)
|
rs777452778
|
|
|
NM_058216.3(RAD51C):c.467T>A (p.Val156Asp)
|
rs1435180142
|
|
|
NM_058216.3(RAD51C):c.46A>T (p.Ser16Cys)
|
|
|
|
NM_058216.3(RAD51C):c.470T>G (p.Phe157Cys)
|
rs1555594699
|
|
|
NM_058216.3(RAD51C):c.471T>C (p.Phe157=)
|
rs1422598357
|
|
|
NM_058216.3(RAD51C):c.472dup (p.Ile158fs)
|
rs2143746162
|
|
|
NM_058216.3(RAD51C):c.473T>C (p.Ile158Thr)
|
rs1394901462
|
|
|
NM_058216.3(RAD51C):c.476A>C (p.Asp159Ala)
|
rs1555594714
|
|
|
NM_058216.3(RAD51C):c.476A>T (p.Asp159Val)
|
|
|
|
NM_058216.3(RAD51C):c.477T>C (p.Asp159=)
|
rs760436864
|
|
|
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu)
|
rs760436864
|
|
|
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
|
|
|
|
NM_058216.3(RAD51C):c.47G>A (p.Ser16Asn)
|
rs1555591843
|
|
|
NM_058216.3(RAD51C):c.480A>C (p.Thr160=)
|
rs1060504670
|
|
|
NM_058216.3(RAD51C):c.480A>G (p.Thr160=)
|
rs1060504670
|
|
|
NM_058216.3(RAD51C):c.482A>T (p.Glu161Val)
|
rs1555594725
|
|
|
NM_058216.3(RAD51C):c.483G>A (p.Glu161=)
|
rs1188093917
|
|
|
NM_058216.3(RAD51C):c.483G>T (p.Glu161Asp)
|
rs1188093917
|
|
|
NM_058216.3(RAD51C):c.484G>A (p.Gly162Arg)
|
|
|
|
NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)
|
|
|
|
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu)
|
rs35151472
|
|
|
NM_058216.3(RAD51C):c.485del (p.Gly162fs)
|
rs2143746632
|
|
|
NM_058216.3(RAD51C):c.488G>A (p.Ser163Asn)
|
rs1235906176
|
|
|
NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg)
|
rs876659719
|
|
|
NM_058216.3(RAD51C):c.489T>C (p.Ser163=)
|
rs876659719
|
|
|
NM_058216.3(RAD51C):c.48T>C (p.Ser16=)
|
|
|
|
NM_058216.3(RAD51C):c.490T>G (p.Phe164Val)
|
rs1555594754
|
|
|
NM_058216.3(RAD51C):c.491T>C (p.Phe164Ser)
|
rs1060502589
|
|
|
NM_058216.3(RAD51C):c.491_492del (p.Phe164fs)
|
rs2143746939
|
|
|
NM_058216.3(RAD51C):c.493A>G (p.Met165Val)
|
rs1555594766
|
|
|
NM_058216.3(RAD51C):c.494T>C (p.Met165Thr)
|
rs1598460523
|
|
|
NM_058216.3(RAD51C):c.495G>A (p.Met165Ile)
|
rs1567788704
|
|
|
NM_058216.3(RAD51C):c.496del (p.Val166fs)
|
rs2143747219
|
|
|
NM_058216.3(RAD51C):c.498del (p.Asp167fs)
|
rs746993675
|
|
|
NM_058216.3(RAD51C):c.499G>C (p.Asp167His)
|
rs1555594778
|
|
|
NM_058216.3(RAD51C):c.499G>T (p.Asp167Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.499_501del (p.Asp167del)
|
rs2143747370
|
|
|
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)
|
rs758029117
|
|
|
NM_058216.3(RAD51C):c.500A>G (p.Asp167Gly)
|
rs1598460593
|
|
|
NM_058216.3(RAD51C):c.501T>C (p.Asp167=)
|
|
|
|
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs)
|
rs587782699
|
|
|
NM_058216.3(RAD51C):c.502A>G (p.Arg168Gly)
|
rs587781490
|
|
|
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)
|
rs587781490
|
|
|
NM_058216.3(RAD51C):c.502dup (p.Arg168fs)
|
rs2143747561
|
|
|
NM_058216.3(RAD51C):c.503G>A (p.Arg168Lys)
|
|
|
|
NM_058216.3(RAD51C):c.504A>G (p.Arg168=)
|
rs1555594805
|
|
|
NM_058216.3(RAD51C):c.505G>A (p.Val169Met)
|
|
|
|
NM_058216.3(RAD51C):c.508G>A (p.Val170Ile)
|
rs2048030325
|
|
|
NM_058216.3(RAD51C):c.508del (p.Val169_Val170insTer)
|
|
|
|
NM_058216.3(RAD51C):c.50T>C (p.Phe17Ser)
|
rs1411454855
|
|
|
NM_058216.3(RAD51C):c.50T>G (p.Phe17Cys)
|
rs1411454855
|
|
|
NM_058216.3(RAD51C):c.50del (p.Phe17fs)
|
rs1555591851
|
|
|
NM_058216.3(RAD51C):c.511G>A (p.Asp171Asn)
|
rs2143747843
|
|
|
NM_058216.3(RAD51C):c.513C>A (p.Asp171Glu)
|
rs140279158
|
|
|
NM_058216.3(RAD51C):c.514C>T (p.Leu172Phe)
|
rs876660732
|
|
|
NM_058216.3(RAD51C):c.515T>G (p.Leu172Arg)
|
|
|
|
NM_058216.3(RAD51C):c.519T>C (p.Ala173=)
|
rs1177998422
|
|
|
NM_058216.3(RAD51C):c.519dup (p.Thr174fs)
|
rs1598460710
|
|
|
NM_058216.3(RAD51C):c.51C>A (p.Phe17Leu)
|
rs1598448876
|
|
|
NM_058216.3(RAD51C):c.51C>T (p.Phe17=)
|
rs1598448876
|
|
|
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala)
|
rs864622278
|
|
|
NM_058216.3(RAD51C):c.521C>T (p.Thr174Ile)
|
rs2048031047
|
|
|
NM_058216.3(RAD51C):c.523G>T (p.Ala175Ser)
|
rs587780838
|
|
|
NM_058216.3(RAD51C):c.525dup (p.Cys176fs)
|
rs768793789
|
|
|
NM_058216.3(RAD51C):c.526T>C (p.Cys176Arg)
|
rs2048031436
|
|
|
NM_058216.3(RAD51C):c.529A>G (p.Ile177Val)
|
rs786201828
|
|
|
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)
|
rs1598448896
|
|
|
NM_058216.3(RAD51C):c.532C>A (p.Gln178Lys)
|
rs1555594861
|
|
|
NM_058216.3(RAD51C):c.533A>G (p.Gln178Arg)
|
rs1598460753
|
|
|
NM_058216.3(RAD51C):c.534G>T (p.Gln178His)
|
rs1567788846
|
|
|
NM_058216.3(RAD51C):c.535C>A (p.His179Asn)
|
|
|
|
NM_058216.3(RAD51C):c.535del (p.His179fs)
|
rs1555594864
|
|
|
NM_058216.3(RAD51C):c.539T>G (p.Leu180Arg)
|
rs1555594869
|
|
|
NM_058216.3(RAD51C):c.53C>A (p.Pro18Gln)
|
rs754498936
|
|
|
NM_058216.3(RAD51C):c.53C>G (p.Pro18Arg)
|
rs754498936
|
|
|
NM_058216.3(RAD51C):c.53del (p.Pro18fs)
|
|
|
|
NM_058216.3(RAD51C):c.542A>G (p.Gln181Arg)
|
rs1064796060
|
|
|
NM_058216.3(RAD51C):c.543G>C (p.Gln181His)
|
|
|
|
NM_058216.3(RAD51C):c.546T>C (p.Leu182=)
|
|
|
|
NM_058216.3(RAD51C):c.54G>A (p.Pro18=)
|
|
|
|
NM_058216.3(RAD51C):c.54G>T (p.Pro18=)
|
rs1555591865
|
|
|
NM_058216.3(RAD51C):c.54del (p.Leu19fs)
|
|
|
|
NM_058216.3(RAD51C):c.552A>G (p.Ala184=)
|
rs761168518
|
|
|
NM_058216.3(RAD51C):c.554A>G (p.Glu185Gly)
|
rs2143749539
|
|
|
NM_058216.3(RAD51C):c.556A>G (p.Lys186Glu)
|
rs1363104728
|
|
|
NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter)
|
rs1363104728
|
|
|
NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup)
|
rs776534031
|
|
|
NM_058216.3(RAD51C):c.558A>G (p.Lys186=)
|
|
|
|
NM_058216.3(RAD51C):c.559C>G (p.His187Asp)
|
|
|
|
NM_058216.3(RAD51C):c.55C>T (p.Leu19=)
|
rs1064796141
|
|
|
NM_058216.3(RAD51C):c.560A>G (p.His187Arg)
|
|
|
|
NM_058216.3(RAD51C):c.561C>A (p.His187Gln)
|
rs2048033583
|
|
|
NM_058216.3(RAD51C):c.561C>G (p.His187Gln)
|
|
|
|
NM_058216.3(RAD51C):c.561C>T (p.His187=)
|
rs2048033583
|
|
|
NM_058216.3(RAD51C):c.561_562del (p.His187fs)
|
rs1057517812
|
|
|
NM_058216.3(RAD51C):c.562A>G (p.Lys188Glu)
|
|
|
|
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.564G>A (p.Lys188=)
|
rs876658264
|
|
|
NM_058216.3(RAD51C):c.564G>T (p.Lys188Asn)
|
rs876658264
|
|
|
NM_058216.3(RAD51C):c.565G>A (p.Gly189Arg)
|
rs1330937621
|
|
|
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter)
|
rs1330937621
|
|
|
NM_058216.3(RAD51C):c.566G>A (p.Gly189Glu)
|
rs1240012999
|
|
|
NM_058216.3(RAD51C):c.567A>G (p.Gly189=)
|
rs1567788981
|
|
|
NM_058216.3(RAD51C):c.568G>A (p.Glu190Lys)
|
rs779932777
|
|
|
NM_058216.3(RAD51C):c.56T>A (p.Leu19Gln)
|
|
|
|
NM_058216.3(RAD51C):c.56T>C (p.Leu19Pro)
|
rs1598448973
|
|
|
NM_058216.3(RAD51C):c.570G>A (p.Glu190=)
|
rs1555594937
|
|
|
NM_058216.3(RAD51C):c.570G>C (p.Glu190Asp)
|
|
|
|
NM_058216.3(RAD51C):c.571+11A>G
|
|
|
|
NM_058216.3(RAD51C):c.571+12A>G
|
|
|
|
NM_058216.3(RAD51C):c.571+13A>G
|
|
|
|
NM_058216.3(RAD51C):c.571+15_571+16insCA
|
rs370506962
|
|
|
NM_058216.3(RAD51C):c.571+16A>T
|
|
|
|
NM_058216.3(RAD51C):c.571+17T>C
|
rs2143750571
|
|
|
NM_058216.3(RAD51C):c.571+18C>G
|
|
|
|
NM_058216.3(RAD51C):c.571+18C>T
|
rs774137305
|
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
|
NM_058216.3(RAD51C):c.571+21_571+23del
|
rs1168224153
|
|
|
NM_058216.3(RAD51C):c.571+2863A>G
|
|
|
|
NM_058216.3(RAD51C):c.571+2T>A
|
rs1567789009
|
|
|
NM_058216.3(RAD51C):c.571+3013_590del
|
|
|
|
NM_058216.3(RAD51C):c.571+3_571+6del
|
|
|
|
NM_058216.3(RAD51C):c.571+6T>G
|
rs1598461030
|
|
|
NM_058216.3(RAD51C):c.571+7T>A
|
|
|
|
NM_058216.3(RAD51C):c.571+7T>C
|
rs1024076621
|
|
|
NM_058216.3(RAD51C):c.571+9G>C
|
rs776730538
|
|
|
NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys)
|
rs1598460983
|
|
|
NM_058216.3(RAD51C):c.572-11del
|
rs587780258
|
|
|
NM_058216.3(RAD51C):c.572-13T>G
|
rs2143796132
|
|
|
NM_058216.3(RAD51C):c.572-14T>G
|
|
|
|
NM_058216.3(RAD51C):c.572-16T>C
|
rs1555597053
|
|
|
NM_058216.3(RAD51C):c.572-17G>A
|
rs193023469
|
|
|
NM_058216.3(RAD51C):c.572-1G>C
|
rs1413872299
|
|
|
NM_058216.3(RAD51C):c.572-21_572-16del
|
rs773035374
|
|
|
NM_058216.3(RAD51C):c.572-3C>G
|
rs1567794089
|
|
|
NM_058216.3(RAD51C):c.572-3C>T
|
rs1567794089
|
|
|
NM_058216.3(RAD51C):c.572-5T>C
|
|
|
|
NM_058216.3(RAD51C):c.572-7G>A
|
rs1567794083
|
|
|
NM_058216.3(RAD51C):c.572-8T>C
|
rs2143796223
|
|
|
NM_058216.3(RAD51C):c.573A>G (p.Glu191=)
|
rs2143796412
|
|
|
NM_058216.3(RAD51C):c.576C>A (p.His192Gln)
|
rs2143796505
|
|
|
NM_058216.3(RAD51C):c.576C>G (p.His192Gln)
|
|
|
|
NM_058216.3(RAD51C):c.577C>A (p.Arg193=)
|
rs200293302
|
|
|
NM_058216.3(RAD51C):c.577C>G (p.Arg193Gly)
|
|
|
|
NM_058216.3(RAD51C):c.57G>C (p.Leu19=)
|
|
|
|
NM_058216.3(RAD51C):c.583G>A (p.Ala195Thr)
|
rs1060502600
|
|
|
NM_058216.3(RAD51C):c.585T>C (p.Ala195=)
|
rs2143796798
|
|
|
NM_058216.3(RAD51C):c.588G>A (p.Leu196=)
|
rs1555597088
|
|
|
NM_058216.3(RAD51C):c.589G>A (p.Glu197Lys)
|
rs1555597094
|
|
|
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter)
|
rs1555597094
|
|
|
NM_058216.3(RAD51C):c.591G>A (p.Glu197=)
|
|
|
|
NM_058216.3(RAD51C):c.592G>T (p.Asp198Tyr)
|
rs2143797075
|
|
|
NM_058216.3(RAD51C):c.593A>G (p.Asp198Gly)
|
rs2048269455
|
|
|
NM_058216.3(RAD51C):c.597_603del (p.Phe199fs)
|
rs2048269550
|
|
|
NM_058216.3(RAD51C):c.598A>G (p.Thr200Ala)
|
rs1369125082
|
|
|
NM_058216.3(RAD51C):c.59C>A (p.Ser20Tyr)
|
rs786203944
|
|
|
NM_058216.3(RAD51C):c.59C>G (p.Ser20Cys)
|
rs786203944
|
|
|
NM_058216.3(RAD51C):c.59C>T (p.Ser20Phe)
|
rs786203944
|
|
|
NM_058216.3(RAD51C):c.5G>A (p.Arg2His)
|
rs2047797645
|
|
|
NM_058216.3(RAD51C):c.601C>T (p.Leu201Phe)
|
|
|
|
NM_058216.3(RAD51C):c.602T>C (p.Leu201Pro)
|
rs587780839
|
|
|
NM_058216.3(RAD51C):c.602T>G (p.Leu201Arg)
|
|
|
|
NM_058216.3(RAD51C):c.605A>G (p.Asp202Gly)
|
rs1060502591
|
|
|
NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu)
|
rs2048270218
|
|
|
NM_058216.3(RAD51C):c.608A>G (p.Asn203Ser)
|
|
|
|
NM_058216.3(RAD51C):c.610A>G (p.Ile204Val)
|
rs1598473225
|
|
|
NM_058216.3(RAD51C):c.612del (p.Leu205fs)
|
rs2143797889
|
|
|
NM_058216.3(RAD51C):c.615T>C (p.Leu205=)
|
rs2143797988
|
|
|
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
|
|
|
|
NM_058216.3(RAD51C):c.617C>A (p.Ser206Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.61C>A (p.Pro21Thr)
|
|
|
|
NM_058216.3(RAD51C):c.61C>G (p.Pro21Ala)
|
rs752608224
|
|
|
NM_058216.3(RAD51C):c.61C>T (p.Pro21Ser)
|
rs752608224
|
|
|
NM_058216.3(RAD51C):c.620A>T (p.His207Leu)
|
|
|
|
NM_058216.3(RAD51C):c.622A>T (p.Ile208Phe)
|
|
|
|
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs)
|
rs876659497
|
|
|
NM_058216.3(RAD51C):c.623T>G (p.Ile208Ser)
|
rs1598473279
|
|
|
NM_058216.3(RAD51C):c.624T>G (p.Ile208Met)
|
rs775006411
|
|
|
NM_058216.3(RAD51C):c.625T>G (p.Tyr209Asp)
|
rs2143798413
|
|
|
NM_058216.3(RAD51C):c.626A>T (p.Tyr209Phe)
|
rs1017384420
|
|
|
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
|
|
|
|
NM_058216.3(RAD51C):c.629A>G (p.Tyr210Cys)
|
rs1598473310
|
|
|
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)
|
rs786201909
|
|
|
NM_058216.3(RAD51C):c.631T>C (p.Phe211Leu)
|
rs2048271607
|
|
|
NM_058216.3(RAD51C):c.634C>A (p.Arg212Ser)
|
rs137947462
|
|
|
NM_058216.3(RAD51C):c.634C>G (p.Arg212Gly)
|
rs137947462
|
|
|
NM_058216.3(RAD51C):c.635G>T (p.Arg212Leu)
|
rs200857129
|
|
|
NM_058216.3(RAD51C):c.636C>T (p.Arg212=)
|
rs1481957875
|
|
|
NM_058216.3(RAD51C):c.637T>C (p.Cys213Arg)
|
|
|
|
NM_058216.3(RAD51C):c.638G>C (p.Cys213Ser)
|
rs2143798852
|
|
|
NM_058216.3(RAD51C):c.639T>C (p.Cys213=)
|
|
|
|
NM_058216.3(RAD51C):c.645C>G (p.Asp215Glu)
|
rs2143799278
|
|
|
NM_058216.3(RAD51C):c.645C>T (p.Asp215=)
|
|
|
|
NM_058216.3(RAD51C):c.647A>G (p.Tyr216Cys)
|
rs746755735
|
|
|
NM_058216.3(RAD51C):c.648C>T (p.Tyr216=)
|
|
|
|
NM_058216.3(RAD51C):c.649A>C (p.Thr217Pro)
|
|
|
|
NM_058216.3(RAD51C):c.649A>G (p.Thr217Ala)
|
rs1555597189
|
|
|
NM_058216.3(RAD51C):c.649A>T (p.Thr217Ser)
|
rs1555597189
|
|
|
NM_058216.3(RAD51C):c.650_651del (p.Thr217fs)
|
rs2048272509
|
|
|
NM_058216.3(RAD51C):c.651A>C (p.Thr217=)
|
|
|
|
NM_058216.3(RAD51C):c.651A>T (p.Thr217=)
|
rs757915374
|
|
|
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.657A>G (p.Leu219=)
|
rs2143800069
|
|
|
NM_058216.3(RAD51C):c.658C>G (p.Leu220Val)
|
|
|
|
NM_058216.3(RAD51C):c.658C>T (p.Leu220=)
|
rs1555597205
|
|
|
NM_058216.3(RAD51C):c.659T>C (p.Leu220Pro)
|
|
|
|
NM_058216.3(RAD51C):c.65C>G (p.Ala22Gly)
|
|
|
|
NM_058216.3(RAD51C):c.663A>C (p.Ala221=)
|
|
|
|
NM_058216.3(RAD51C):c.666A>G (p.Gln222=)
|
rs1567794382
|
|
|
NM_058216.3(RAD51C):c.667G>A (p.Val223Ile)
|
rs876660177
|
|
|
NM_058216.3(RAD51C):c.669T>C (p.Val223=)
|
rs2143800599
|
|
|
NM_058216.3(RAD51C):c.66G>C (p.Ala22=)
|
rs876660695
|
|
|
NM_058216.3(RAD51C):c.670_705+64dup
|
rs1555597210
|
|
|
NM_058216.3(RAD51C):c.671A>G (p.Tyr224Cys)
|
rs730881924
|
|
|
NM_058216.3(RAD51C):c.672_705+65dup
|
rs1555597214
|
|
|
NM_058216.3(RAD51C):c.674T>C (p.Leu225Pro)
|
rs1032681872
|
|
|
NM_058216.3(RAD51C):c.674TTC[1] (p.Leu226del)
|
rs1555597217
|
|
|
NM_058216.3(RAD51C):c.675del (p.Leu226fs)
|
rs2048274544
|
|
|
NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro)
|
rs1225858240
|
|
|
NM_058216.3(RAD51C):c.679C>T (p.Pro227Ser)
|
rs958242201
|
|
|
NM_058216.3(RAD51C):c.67G>A (p.Val23Met)
|
rs1386696811
|
|
|
NM_058216.3(RAD51C):c.67G>C (p.Val23Leu)
|
rs1386696811
|
|
|
NM_058216.3(RAD51C):c.681A>C (p.Pro227=)
|
rs1177043110
|
|
|
NM_058216.3(RAD51C):c.681A>G (p.Pro227=)
|
rs1177043110
|
|
|
NM_058216.3(RAD51C):c.683A>G (p.Asp228Gly)
|
rs2048274960
|
|
|
NM_058216.3(RAD51C):c.683A>T (p.Asp228Val)
|
rs2048274960
|
|
|
NM_058216.3(RAD51C):c.685T>A (p.Phe229Ile)
|
|
|
|
NM_058216.3(RAD51C):c.687C>T (p.Phe229=)
|
rs780177888
|
|
|
NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe)
|
rs751528808
|
|
|
NM_058216.3(RAD51C):c.688del (p.Leu230fs)
|
rs2143801496
|
|
|
NM_058216.3(RAD51C):c.68T>C (p.Val23Ala)
|
|
|
|
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs)
|
rs2047807048
|
|
|
NM_058216.3(RAD51C):c.690T>C (p.Leu230=)
|
rs2143801640
|
|
|
NM_058216.3(RAD51C):c.692C>T (p.Ser231Leu)
|
rs1060502588
|
|
|
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer)
|
rs2143801795
|
|
|
NM_058216.3(RAD51C):c.693A>G (p.Ser231=)
|
rs1598473581
|
|
|
NM_058216.3(RAD51C):c.694G>A (p.Glu232Lys)
|
rs2143801948
|
|
|
NM_058216.3(RAD51C):c.696A>G (p.Glu232=)
|
rs786201177
|
|
|
NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp)
|
rs786201177
|
|
|
NM_058216.3(RAD51C):c.697C>T (p.His233Tyr)
|
rs2143802148
|
|
|
NM_058216.3(RAD51C):c.698A>C (p.His233Pro)
|
|
|
|
NM_058216.3(RAD51C):c.698A>G (p.His233Arg)
|
rs754895072
|
|
|
NM_058216.3(RAD51C):c.6C>G (p.Arg2=)
|
rs1334508786
|
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
|
NM_058216.3(RAD51C):c.702A>C (p.Ser234=)
|
|
|
|
NM_058216.3(RAD51C):c.702A>G (p.Ser234=)
|
|
|
|
NM_058216.3(RAD51C):c.703A>G (p.Lys235Glu)
|
rs1555597252
|
|
|
NM_058216.3(RAD51C):c.704del (p.Lys235fs)
|
rs1567794476
|
|
|
NM_058216.3(RAD51C):c.704dup (p.Val236fs)
|
rs1567794476
|
|
|
NM_058216.3(RAD51C):c.705+13C>A
|
|
|
|
NM_058216.3(RAD51C):c.705+13C>T
|
|
|
|
NM_058216.3(RAD51C):c.705+15A>G
|
|
|
|
NM_058216.3(RAD51C):c.705+16C>G
|
|
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
|
NM_058216.3(RAD51C):c.705+1G>T
|
rs876658644
|
|
|
NM_058216.3(RAD51C):c.705+3A>G
|
rs878855179
|
|
|
NM_058216.3(RAD51C):c.705+3A>T
|
rs878855179
|
|
|
NM_058216.3(RAD51C):c.705+4T>G
|
rs778157321
|
|
|
NM_058216.3(RAD51C):c.705+6A>C
|
|
|
|
NM_058216.3(RAD51C):c.705+9C>G
|
rs1598473685
|
|
|
NM_058216.3(RAD51C):c.705+9C>T
|
rs1598473685
|
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
|
NM_058216.3(RAD51C):c.706-10C>T
|
|
|
|
NM_058216.3(RAD51C):c.706-11T>G
|
rs2143849743
|
|
|
NM_058216.3(RAD51C):c.706-12T>A
|
rs2143849715
|
|
|
NM_058216.3(RAD51C):c.706-17A>C
|
|
|
|
NM_058216.3(RAD51C):c.706-18_706-16del
|
rs1173077552
|
|
|
NM_058216.3(RAD51C):c.706-1G>A
|
rs1555599090
|
|
|
NM_058216.3(RAD51C):c.706-20A>G
|
|
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
|
NM_058216.3(RAD51C):c.706-4T>A
|
rs2143849867
|
|
|
NM_058216.3(RAD51C):c.706-5T>C
|
rs2143849856
|
|
|
NM_058216.3(RAD51C):c.706-7T>C
|
rs1555599087
|
|
|
NM_058216.3(RAD51C):c.706-7T>G
|
|
|
|
NM_058216.3(RAD51C):c.706-9T>A
|
rs1060504671
|
|
|
NM_058216.3(RAD51C):c.706-9T>C
|
rs1060504671
|
|
|
NM_058216.3(RAD51C):c.706-9T>G
|
rs1060504671
|
|
|
NM_058216.3(RAD51C):c.706G>T (p.Val236Phe)
|
rs2143849926
|
|
|
NM_058216.3(RAD51C):c.707T>A (p.Val236Asp)
|
rs1555599091
|
|
|
NM_058216.3(RAD51C):c.70C>G (p.Arg24Gly)
|
rs878855180
|
|
|
NM_058216.3(RAD51C):c.70C>T (p.Arg24Trp)
|
rs878855180
|
|
|
NM_058216.3(RAD51C):c.710G>C (p.Arg237Pro)
|
rs370393672
|
|
|
NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)
|
|
|
|
NM_058216.3(RAD51C):c.711A>T (p.Arg237=)
|
|
|
|
NM_058216.3(RAD51C):c.713T>C (p.Leu238Pro)
|
rs1060502606
|
|
|
NM_058216.3(RAD51C):c.713T>G (p.Leu238Arg)
|
rs1060502606
|
|
|
NM_058216.3(RAD51C):c.715G>C (p.Val239Leu)
|
rs1064795326
|
|
|
NM_058216.3(RAD51C):c.715G>T (p.Val239Leu)
|
rs1064795326
|
|
|
NM_058216.3(RAD51C):c.716T>A (p.Val239Glu)
|
rs1064795220
|
|
|
NM_058216.3(RAD51C):c.717G>C (p.Val239=)
|
rs1555599108
|
|
|
NM_058216.3(RAD51C):c.718A>G (p.Ile240Val)
|
rs863224806
|
|
|
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)
|
rs863224806
|
|
|
NM_058216.3(RAD51C):c.71G>A (p.Arg24Gln)
|
rs777554369
|
|
|
NM_058216.3(RAD51C):c.71G>T (p.Arg24Leu)
|
rs777554369
|
|
|
NM_058216.3(RAD51C):c.71_85dup (p.Val28_Ser29insTrpValLysLeuVal)
|
rs1598449114
|
|
|
NM_058216.3(RAD51C):c.723G>A (p.Val241=)
|
rs2143850541
|
|
|
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)
|
rs876659188
|
|
|
NM_058216.3(RAD51C):c.725A>G (p.Asp242Gly)
|
rs2048494505
|
|
|
NM_058216.3(RAD51C):c.725A>T (p.Asp242Val)
|
rs2048494505
|
|
|
NM_058216.3(RAD51C):c.727G>A (p.Gly243Ser)
|
rs2048494596
|
|
|
NM_058216.3(RAD51C):c.728G>A (p.Gly243Asp)
|
|
|
|
NM_058216.3(RAD51C):c.728G>C (p.Gly243Ala)
|
|
|
|
NM_058216.3(RAD51C):c.72_73insAT (p.Val25fs)
|
rs775482687
|
|
|
NM_058216.3(RAD51C):c.730A>T (p.Ile244Phe)
|
rs199886026
|
|
|
NM_058216.3(RAD51C):c.732T>G (p.Ile244Met)
|
rs2048495083
|
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
|
NM_058216.3(RAD51C):c.734C>T (p.Ala245Val)
|
rs1555599151
|
|
|
NM_058216.3(RAD51C):c.738del (p.Pro247fs)
|
|
|
|
NM_058216.3(RAD51C):c.73G>C (p.Val25Leu)
|
rs757116652
|
|
|
NM_058216.3(RAD51C):c.73G>T (p.Val25Leu)
|
rs757116652
|
|
|
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs)
|
rs1567782936
|
|
|
NM_058216.3(RAD51C):c.741A>G (p.Pro247=)
|
rs1010366805
|
|
|
NM_058216.3(RAD51C):c.742T>C (p.Phe248Leu)
|
rs876659496
|
|
|
NM_058216.3(RAD51C):c.744T>G (p.Phe248Leu)
|
|
|
|
NM_058216.3(RAD51C):c.745C>G (p.Arg249Gly)
|
rs28363311
|
|
|
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys)
|
rs28363311
|
|
|
NM_058216.3(RAD51C):c.748C>G (p.His250Asp)
|
rs531540031
|
|
|
NM_058216.3(RAD51C):c.749A>G (p.His250Arg)
|
rs1060502597
|
|
|
NM_058216.3(RAD51C):c.74T>C (p.Val25Ala)
|
rs2047809263
|
|
|
NM_058216.3(RAD51C):c.750T>C (p.His250=)
|
|
|
|
NM_058216.3(RAD51C):c.752A>G (p.Asp251Gly)
|
rs2048496443
|
|
|
NM_058216.3(RAD51C):c.753C>T (p.Asp251=)
|
rs1415231244
|
|
|
NM_058216.3(RAD51C):c.755T>A (p.Leu252Gln)
|
rs2048496750
|
|
|
NM_058216.3(RAD51C):c.756A>G (p.Leu252=)
|
rs863224437
|
|
|
NM_058216.3(RAD51C):c.757G>C (p.Asp253His)
|
|
|
|
NM_058216.3(RAD51C):c.75dup (p.Lys26fs)
|
|
|
|
NM_058216.3(RAD51C):c.763C>T (p.Leu255=)
|
rs1598484488
|
|
|
NM_058216.3(RAD51C):c.764T>C (p.Leu255Pro)
|
rs1567799667
|
|
|
NM_058216.3(RAD51C):c.767C>G (p.Ser256Cys)
|
rs2143852373
|
|
|
NM_058216.3(RAD51C):c.773G>C (p.Arg258Pro)
|
rs267606997
|
|
|
NM_058216.3(RAD51C):c.773G>T (p.Arg258Leu)
|
rs267606997
|
|
|
NM_058216.3(RAD51C):c.774T>C (p.Arg258=)
|
rs1555599197
|
|
|
NM_058216.3(RAD51C):c.775A>G (p.Thr259Ala)
|
rs779954908
|
|
|
NM_058216.3(RAD51C):c.775A>T (p.Thr259Ser)
|
rs779954908
|
|
|
NM_058216.3(RAD51C):c.778C>A (p.Arg260=)
|
|
|
|
NM_058216.3(RAD51C):c.779G>C (p.Arg260Pro)
|
rs730881926
|
|
|
NM_058216.3(RAD51C):c.780G>T (p.Arg260=)
|
rs1460932618
|
|
|
NM_058216.3(RAD51C):c.784T>C (p.Leu262=)
|
rs149331537
|
|
|
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.788A>G (p.Asn263Ser)
|
rs935771120
|
|
|
NM_058216.3(RAD51C):c.791G>T (p.Gly264Val)
|
rs1283065191
|
|
|
NM_058216.3(RAD51C):c.793C>A (p.Leu265Ile)
|
rs759072716
|
|
|
NM_058216.3(RAD51C):c.795del (p.Ala266fs)
|
rs2143853617
|
|
|
NM_058216.3(RAD51C):c.797C>A (p.Ala266Asp)
|
rs1555599239
|
|
|
NM_058216.3(RAD51C):c.797C>T (p.Ala266Val)
|
rs1555599239
|
|
|
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
|
|
|
|
NM_058216.3(RAD51C):c.7G>C (p.Gly3Arg)
|
rs376403182
|
|
|
NM_058216.3(RAD51C):c.7G>T (p.Gly3Trp)
|
rs376403182
|
|
|
NM_058216.3(RAD51C):c.801G>A (p.Gln267=)
|
rs2048499866
|
|
|
NM_058216.3(RAD51C):c.801G>C (p.Gln267His)
|
rs2048499866
|
|
|
NM_058216.3(RAD51C):c.802C>A (p.Gln268Lys)
|
rs1567799818
|
|
|
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)
|
rs1567799818
|
|
|
NM_058216.3(RAD51C):c.803A>G (p.Gln268Arg)
|
rs1064794654
|
|
|
NM_058216.3(RAD51C):c.805A>G (p.Met269Val)
|
rs878855181
|
|
|
NM_058216.3(RAD51C):c.805A>T (p.Met269Leu)
|
rs878855181
|
|
|
NM_058216.3(RAD51C):c.808A>G (p.Ile270Val)
|
rs1555599250
|
|
|
NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro)
|
rs587781309
|
|
|
NM_058216.3(RAD51C):c.810C>G (p.Ile270Met)
|
rs1555599252
|
|
|
NM_058216.3(RAD51C):c.811A>G (p.Ser271Gly)
|
rs1555599256
|
|
|
NM_058216.3(RAD51C):c.812G>A (p.Ser271Asn)
|
rs1060502596
|
|
|
NM_058216.3(RAD51C):c.814C>T (p.Leu272Phe)
|
|
|
|
NM_058216.3(RAD51C):c.816T>G (p.Leu272=)
|
rs1598484799
|
|
|
NM_058216.3(RAD51C):c.817G>C (p.Ala273Pro)
|
rs1598484818
|
|
|
NM_058216.3(RAD51C):c.818C>T (p.Ala273Val)
|
rs1555599262
|
|
|
NM_058216.3(RAD51C):c.819A>C (p.Ala273=)
|
|
|
|
NM_058216.3(RAD51C):c.81G>T (p.Leu27=)
|
rs1311969744
|
|
|
NM_058216.3(RAD51C):c.820A>G (p.Asn274Asp)
|
|
|
|
NM_058216.3(RAD51C):c.821A>G (p.Asn274Ser)
|
rs1598484851
|
|
|
NM_058216.3(RAD51C):c.826C>A (p.His276Asn)
|
rs1567799906
|
|
|
NM_058216.3(RAD51C):c.826C>T (p.His276Tyr)
|
rs1567799906
|
|
|
NM_058216.3(RAD51C):c.827A>C (p.His276Pro)
|
rs1567799913
|
|
|
NM_058216.3(RAD51C):c.82G>A (p.Val28Met)
|
rs1060502587
|
|
|
NM_058216.3(RAD51C):c.82G>C (p.Val28Leu)
|
rs1060502587
|
|
|
NM_058216.3(RAD51C):c.82dup (p.Val28fs)
|
rs2143677258
|
|
|
NM_058216.3(RAD51C):c.830G>C (p.Arg277Thr)
|
|
|
|
NM_058216.3(RAD51C):c.831A>G (p.Arg277=)
|
|
|
|
NM_058216.3(RAD51C):c.831A>T (p.Arg277Ser)
|
|
|
|
NM_058216.3(RAD51C):c.833T>C (p.Leu278Ser)
|
rs1555599274
|
|
|
NM_058216.3(RAD51C):c.835G>A (p.Ala279Thr)
|
|
|
|
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)
|
rs587782507
|
|
|
NM_058216.3(RAD51C):c.836C>G (p.Ala279Gly)
|
rs2048502472
|
|
|
NM_058216.3(RAD51C):c.837+11A>G
|
rs2143855309
|
|
|
NM_058216.3(RAD51C):c.837+12C>G
|
|
|
|
NM_058216.3(RAD51C):c.837+12C>T
|
|
|
|
NM_058216.3(RAD51C):c.837+15G>A
|
|
|
|
NM_058216.3(RAD51C):c.837+16dup
|
|
|
|
NM_058216.3(RAD51C):c.837+17G>A
|
|
|
|
NM_058216.3(RAD51C):c.837+19A>G
|
rs1433569356
|
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
|
NM_058216.3(RAD51C):c.837+1del
|
rs1555599288
|
|
|
NM_058216.3(RAD51C):c.837+2dup
|
rs2048502931
|
|
|
NM_058216.3(RAD51C):c.837+4A>G
|
|
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
|
NM_058216.3(RAD51C):c.837+4del
|
rs1598484905
|
|
|
NM_058216.3(RAD51C):c.837+5G>A
|
|
|
|
NM_058216.3(RAD51C):c.837+5G>C
|
rs1567799952
|
|
|
NM_058216.3(RAD51C):c.837+7A>G
|
rs1555599293
|
|
|
NM_058216.3(RAD51C):c.837T>C (p.Ala279=)
|
|
|
|
NM_058216.3(RAD51C):c.838-14T>C
|
|
|
|
NM_058216.3(RAD51C):c.838-18T>A
|
rs1567808119
|
|
|
NM_058216.3(RAD51C):c.838-19T>C
|
rs542415157
|
|
|
NM_058216.3(RAD51C):c.838-20C>G
|
rs766600284
|
|
|
NM_058216.3(RAD51C):c.838-2A>G
|
rs748589398
|
|
|
NM_058216.3(RAD51C):c.838-2A>T
|
rs748589398
|
|
|
NM_058216.3(RAD51C):c.838-4del
|
|
|
|
NM_058216.3(RAD51C):c.838-6T>C
|
rs2143929546
|
|
|
NM_058216.3(RAD51C):c.838-9T>G
|
rs1598503945
|
|
|
NM_058216.3(RAD51C):c.838G>A (p.Val280Ile)
|
rs876660718
|
|
|
NM_058216.3(RAD51C):c.83dup (p.Ser29fs)
|
|
|
|
NM_058216.3(RAD51C):c.841A>G (p.Ile281Val)
|
rs1439877158
|
|
|
NM_058216.3(RAD51C):c.850A>G (p.Asn284Asp)
|
rs1555602090
|
|
|
NM_058216.3(RAD51C):c.851A>G (p.Asn284Ser)
|
rs1555602095
|
|
|
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)
|
rs1060502605
|
|
|
NM_058216.3(RAD51C):c.852T>G (p.Asn284Lys)
|
rs2143930037
|
|
|
NM_058216.3(RAD51C):c.854A>G (p.Gln285Arg)
|
rs876660018
|
|
|
NM_058216.3(RAD51C):c.855G>C (p.Gln285His)
|
rs876660369
|
|
|
NM_058216.3(RAD51C):c.855G>T (p.Gln285His)
|
rs876660369
|
|
|
NM_058216.3(RAD51C):c.856A>G (p.Met286Val)
|
rs1567808196
|
|
|
NM_058216.3(RAD51C):c.858G>C (p.Met286Ile)
|
rs2048890830
|
|
|
NM_058216.3(RAD51C):c.859A>C (p.Thr287Pro)
|
rs28363317
|
|
|
NM_058216.3(RAD51C):c.860del (p.Thr287fs)
|
rs2143930383
|
|
|
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)
|
rs587781574
|
|
|
NM_058216.3(RAD51C):c.863C>G (p.Thr288Arg)
|
rs2143930483
|
|
|
NM_058216.3(RAD51C):c.864A>G (p.Thr288=)
|
rs1555602110
|
|
|
NM_058216.3(RAD51C):c.865A>G (p.Lys289Glu)
|
|
|
|
NM_058216.3(RAD51C):c.866A>G (p.Lys289Arg)
|
rs1390237532
|
|
|
NM_058216.3(RAD51C):c.868A>T (p.Ile290Phe)
|
rs2048891385
|
|
|
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe)
|
rs876659683
|
|
|
NM_058216.3(RAD51C):c.870T>G (p.Ile290Met)
|
rs376402418
|
|
|
NM_058216.3(RAD51C):c.872A>T (p.Asp291Val)
|
rs1555602124
|
|
|
NM_058216.3(RAD51C):c.873T>C (p.Asp291=)
|
rs1288802398
|
|
|
NM_058216.3(RAD51C):c.873T>G (p.Asp291Glu)
|
rs1288802398
|
|
|
NM_058216.3(RAD51C):c.874A>G (p.Arg292Gly)
|
rs775208053
|
|
|
NM_058216.3(RAD51C):c.875G>A (p.Arg292Lys)
|
|
|
|
NM_058216.3(RAD51C):c.876A>C (p.Arg292Ser)
|
|
|
|
NM_058216.3(RAD51C):c.877A>C (p.Asn293His)
|
rs1567808290
|
|
|
NM_058216.3(RAD51C):c.878A>G (p.Asn293Ser)
|
rs1246031520
|
|
|
NM_058216.3(RAD51C):c.879T>C (p.Asn293=)
|
rs1555602132
|
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
|
NM_058216.3(RAD51C):c.883G>T (p.Ala295Ser)
|
rs746571208
|
|
|
NM_058216.3(RAD51C):c.884C>A (p.Ala295Asp)
|
|
|
|
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly)
|
rs1555602136
|
|
|
NM_058216.3(RAD51C):c.884C>T (p.Ala295Val)
|
rs1555602136
|
|
|
NM_058216.3(RAD51C):c.886T>G (p.Leu296Val)
|
|
|
|
NM_058216.3(RAD51C):c.888G>A (p.Leu296=)
|
rs370829773
|
|
|
NM_058216.3(RAD51C):c.88G>C (p.Ala30Pro)
|
rs1331134740
|
|
|
NM_058216.3(RAD51C):c.88G>T (p.Ala30Ser)
|
rs1331134740
|
|
|
NM_058216.3(RAD51C):c.890T>G (p.Leu297Arg)
|
rs143026267
|
|
|
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)
|
rs1555602141
|
|
|
NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)
|
|
|
|
NM_058216.3(RAD51C):c.894T>G (p.Val298=)
|
rs1555602147
|
|
|
NM_058216.3(RAD51C):c.894dup (p.Pro299fs)
|
rs2048893092
|
|
|
NM_058216.3(RAD51C):c.896C>T (p.Pro299Leu)
|
rs878855182
|
|
|
NM_058216.3(RAD51C):c.898G>T (p.Ala300Ser)
|
rs2048893581
|
|
|
NM_058216.3(RAD51C):c.899C>A (p.Ala300Glu)
|
rs1444333199
|
|
|
NM_058216.3(RAD51C):c.89C>T (p.Ala30Val)
|
rs1000113630
|
|
|
NM_058216.3(RAD51C):c.8G>A (p.Gly3Glu)
|
rs1555591761
|
|
|
NM_058216.3(RAD51C):c.8G>C (p.Gly3Ala)
|
rs1555591761
|
|
|
NM_058216.3(RAD51C):c.900A>G (p.Ala300=)
|
rs776711046
|
|
|
NM_058216.3(RAD51C):c.903A>C (p.Leu301Phe)
|
rs761799817
|
|
|
NM_058216.3(RAD51C):c.904+11A>T
|
|
|
|
NM_058216.3(RAD51C):c.904+13T>A
|
rs2143932777
|
|
|
NM_058216.3(RAD51C):c.904+14C>T
|
|
|
|
NM_058216.3(RAD51C):c.904+17A>C
|
rs760664998
|
|
|
NM_058216.3(RAD51C):c.904+1G>A
|
rs1555602159
|
|
|
NM_058216.3(RAD51C):c.904+1G>T
|
rs1555602159
|
|
|
NM_058216.3(RAD51C):c.904+21del
|
|
|
|
NM_058216.3(RAD51C):c.904+2T>C
|
rs2143932427
|
|
|
NM_058216.3(RAD51C):c.904+3G>A
|
|
|
|
NM_058216.3(RAD51C):c.904+3G>T
|
rs1290236617
|
|
|
NM_058216.3(RAD51C):c.904+4G>A
|
|
|
|
NM_058216.3(RAD51C):c.904+4G>T
|
rs2048894318
|
|
|
NM_058216.3(RAD51C):c.904+6T>C
|
rs1555602163
|
|
|
NM_058216.3(RAD51C):c.904+7A>C
|
rs1555602171
|
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
|
NM_058216.3(RAD51C):c.904_904+11del
|
|
|
|
NM_058216.3(RAD51C):c.905-13T>G
|
rs2049019457
|
|
|
NM_058216.3(RAD51C):c.905-14T>C
|
|
|
|
NM_058216.3(RAD51C):c.905-15G>C
|
rs2143960875
|
|
|
NM_058216.3(RAD51C):c.905-16T>C
|
|
|
|
NM_058216.3(RAD51C):c.905-18T>G
|
|
|
|
NM_058216.3(RAD51C):c.905-18_905-16del
|
rs757889102
|
|
|
NM_058216.3(RAD51C):c.905-1G>A
|
rs2143961181
|
|
|
NM_058216.3(RAD51C):c.905-20A>G
|
rs950351911
|
|
|
NM_058216.3(RAD51C):c.905-2A>G
|
rs779582317
|
|
|
NM_058216.3(RAD51C):c.905-3C>T
|
rs2143961087
|
|
|
NM_058216.3(RAD51C):c.905-3_906del
|
rs730881941
|
|
|
NM_058216.3(RAD51C):c.905-4T>C
|
rs2049020043
|
|
|
NM_058216.3(RAD51C):c.905-4T>G
|
rs2049020043
|
|
|
NM_058216.3(RAD51C):c.905-5C>A
|
|
|
|
NM_058216.3(RAD51C):c.905-5C>G
|
rs371968149
|
|
|
NM_058216.3(RAD51C):c.905-6T>C
|
|
|
|
NM_058216.3(RAD51C):c.905G>T (p.Gly302Val)
|
rs786203304
|
|
|
NM_058216.3(RAD51C):c.906G>A (p.Gly302=)
|
rs1598510954
|
|
|
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)
|
rs2143961266
|
|
|
NM_058216.3(RAD51C):c.909A>T (p.Glu303Asp)
|
rs2049020875
|
|
|
NM_058216.3(RAD51C):c.90G>C (p.Ala30=)
|
|
|
|
NM_058216.3(RAD51C):c.910A>G (p.Ser304Gly)
|
rs2143961390
|
|
|
NM_058216.3(RAD51C):c.910del (p.Ser304fs)
|
rs1555603011
|
|
|
NM_058216.3(RAD51C):c.911G>T (p.Ser304Ile)
|
rs1598510989
|
|
|
NM_058216.3(RAD51C):c.912T>C (p.Ser304=)
|
rs876659009
|
|
|
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg)
|
rs876659009
|
|
|
NM_058216.3(RAD51C):c.913T>C (p.Trp305Arg)
|
|
|
|
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)
|
rs2143961567
|
|
|
NM_058216.3(RAD51C):c.916G>A (p.Gly306Arg)
|
rs587782733
|
|
|
NM_058216.3(RAD51C):c.917del (p.Gly306fs)
|
rs2143961536
|
|
|
NM_058216.3(RAD51C):c.918A>G (p.Gly306=)
|
rs2143961685
|
|
|
NM_058216.3(RAD51C):c.920A>G (p.His307Arg)
|
rs2049021589
|
|
|
NM_058216.3(RAD51C):c.921T>A (p.His307Gln)
|
rs2143961779
|
|
|
NM_058216.3(RAD51C):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_058216.3(RAD51C):c.926C>T (p.Ala309Val)
|
|
|
|
NM_058216.3(RAD51C):c.927T>A (p.Ala309=)
|
|
|
|
NM_058216.3(RAD51C):c.927T>C (p.Ala309=)
|
rs2143961955
|
|
|
NM_058216.3(RAD51C):c.929C>T (p.Thr310Ile)
|
rs2049022193
|
|
|
NM_058216.3(RAD51C):c.92G>C (p.Gly31Ala)
|
|
|
|
NM_058216.3(RAD51C):c.930A>G (p.Thr310=)
|
rs2049022328
|
|
|
NM_058216.3(RAD51C):c.932T>A (p.Ile311Lys)
|
rs786203766
|
|
|
NM_058216.3(RAD51C):c.932T>C (p.Ile311Thr)
|
rs786203766
|
|
|
NM_058216.3(RAD51C):c.933A>C (p.Ile311=)
|
rs965621328
|
|
|
NM_058216.3(RAD51C):c.933A>T (p.Ile311=)
|
rs965621328
|
|
|
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly)
|
rs730881932
|
|
|
NM_058216.3(RAD51C):c.936G>A (p.Arg312=)
|
rs1555603022
|
|
|
NM_058216.3(RAD51C):c.939A>C (p.Leu313=)
|
|
|
|
NM_058216.3(RAD51C):c.939A>G (p.Leu313=)
|
rs786201953
|
|
|
NM_058216.3(RAD51C):c.93G>A (p.Gly31=)
|
rs769255656
|
|
|
NM_058216.3(RAD51C):c.93G>T (p.Gly31=)
|
|
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
|
NM_058216.3(RAD51C):c.941T>C (p.Ile314Thr)
|
rs2143962436
|
|
|
NM_058216.3(RAD51C):c.946del (p.His316fs)
|
|
|
|
NM_058216.3(RAD51C):c.952G>A (p.Asp318Asn)
|
rs876659875
|
|
|
NM_058216.3(RAD51C):c.952G>C (p.Asp318His)
|
rs876659875
|
|
|
NM_058216.3(RAD51C):c.954C>T (p.Asp318=)
|
rs876658677
|
|
|
NM_058216.3(RAD51C):c.955C>A (p.Arg319=)
|
rs587781287
|
|
|
NM_058216.3(RAD51C):c.955C>G (p.Arg319Gly)
|
rs587781287
|
|
|
NM_058216.3(RAD51C):c.958A>G (p.Lys320Glu)
|
rs1567810482
|
|
|
NM_058216.3(RAD51C):c.959A>G (p.Lys320Arg)
|
rs587780260
|
|
|
NM_058216.3(RAD51C):c.960G>A (p.Lys320=)
|
rs864622395
|
|
|
NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn)
|
rs864622395
|
|
|
NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter)
|
rs2143963184
|
|
|
NM_058216.3(RAD51C):c.962A>G (p.Gln321Arg)
|
rs1555603052
|
|
|
NM_058216.3(RAD51C):c.964A>C (p.Arg322=)
|
rs864622343
|
|
|
NM_058216.3(RAD51C):c.964del (p.Arg322fs)
|
rs1555603056
|
|
|
NM_058216.3(RAD51C):c.965+10G>A
|
rs759703406
|
|
|
NM_058216.3(RAD51C):c.965+18T>A
|
|
|
|
NM_058216.3(RAD51C):c.965+1G>A
|
rs730881933
|
|
|
NM_058216.3(RAD51C):c.965+20_965+21delinsGT
|
rs2049026490
|
|
|
NM_058216.3(RAD51C):c.965+21A>G
|
rs752811386
|
|
|
NM_058216.3(RAD51C):c.965+28C>T
|
|
|
|
NM_058216.3(RAD51C):c.965+3C>G
|
|
|
|
NM_058216.3(RAD51C):c.965+5G>A
|
rs774586107
|
|
|
NM_058216.3(RAD51C):c.965+6T>A
|
|
|
|
NM_058216.3(RAD51C):c.965+7A>G
|
rs1170701075
|
|
|
NM_058216.3(RAD51C):c.965+867A>G
|
|
|
|
NM_058216.3(RAD51C):c.965+8C>G
|
rs1598511379
|
|
|
NM_058216.3(RAD51C):c.965+8C>T
|
|
|
|
NM_058216.3(RAD51C):c.965G>A (p.Arg322Lys)
|
rs1555603059
|
|
|
NM_058216.3(RAD51C):c.965G>C (p.Arg322Thr)
|
rs1555603059
|
|
|
NM_058216.3(RAD51C):c.966-16C>A
|
rs780961985
|
|
|
NM_058216.3(RAD51C):c.966-16_966-14del
|
rs2144043621
|
|
|
NM_058216.3(RAD51C):c.966-17T>A
|
rs2049467437
|
|
|
NM_058216.3(RAD51C):c.966-1G>A
|
rs876658272
|
|
|
NM_058216.3(RAD51C):c.966-1G>T
|
rs876658272
|
|
|
NM_058216.3(RAD51C):c.966-2A>G
|
rs1436204606
|
|
|
NM_058216.3(RAD51C):c.966-3C>T
|
rs1064796091
|
|
|
NM_058216.3(RAD51C):c.966-4G>A
|
rs878855183
|
|
|
NM_058216.3(RAD51C):c.966-4G>C
|
rs878855183
|
|
|
NM_058216.3(RAD51C):c.966-6A>G
|
|
|
|
NM_058216.3(RAD51C):c.966-9T>C
|
|
|
|
NM_058216.3(RAD51C):c.966G>A (p.Arg322=)
|
rs1567817289
|
|
|
NM_058216.3(RAD51C):c.966G>T (p.Arg322Ser)
|
rs1567817289
|
|
|
NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp)
|
rs587782045
|
|
|
NM_058216.3(RAD51C):c.969G>A (p.Leu323=)
|
rs1598534877
|
|
|
NM_058216.3(RAD51C):c.96C>G (p.Phe32Leu)
|
rs1228923241
|
|
|
NM_058216.3(RAD51C):c.971C>T (p.Ala324Val)
|
rs2144044470
|
|
|
NM_058216.3(RAD51C):c.972A>G (p.Ala324=)
|
|
|
|
NM_058216.3(RAD51C):c.973A>G (p.Thr325Ala)
|
rs1555605054
|
|
|
NM_058216.3(RAD51C):c.974C>T (p.Thr325Ile)
|
|
|
|
NM_058216.3(RAD51C):c.975A>C (p.Thr325=)
|
|
|
|
NM_058216.3(RAD51C):c.975A>G (p.Thr325=)
|
|
|
|
NM_058216.3(RAD51C):c.976T>C (p.Leu326=)
|
rs2144044633
|
|
|
NM_058216.3(RAD51C):c.977T>C (p.Leu326Ser)
|
rs749208768
|
|
|
NM_058216.3(RAD51C):c.977T>G (p.Leu326Trp)
|
rs749208768
|
|
|
NM_058216.3(RAD51C):c.977_979del (p.Leu326del)
|
rs2144044664
|
|
|
NM_058216.3(RAD51C):c.978G>C (p.Leu326Phe)
|
rs770652503
|
|
|
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)
|
|
|
|
NM_058216.3(RAD51C):c.984G>A (p.Lys328=)
|
rs2144045008
|
|
|
NM_058216.3(RAD51C):c.984G>C (p.Lys328Asn)
|
|
|
|
NM_058216.3(RAD51C):c.986C>T (p.Ser329Leu)
|
rs1567817363
|
|
|
NM_058216.3(RAD51C):c.987A>T (p.Ser329=)
|
rs876659303
|
|
|
NM_058216.3(RAD51C):c.988C>T (p.Pro330Ser)
|
rs1555605068
|
|
|
NM_058216.3(RAD51C):c.989C>G (p.Pro330Arg)
|
rs1567817392
|
|
|
NM_058216.3(RAD51C):c.989C>T (p.Pro330Leu)
|
rs1567817392
|
|
|
NM_058216.3(RAD51C):c.990del (p.Ser331fs)
|
|
|
|
NM_058216.3(RAD51C):c.992G>A (p.Ser331Asn)
|
rs786202681
|
|
|
NM_058216.3(RAD51C):c.992G>C (p.Ser331Thr)
|
|
|
|
NM_058216.3(RAD51C):c.992G>T (p.Ser331Ile)
|
rs786202681
|
|
|
NM_058216.3(RAD51C):c.993C>A (p.Ser331Arg)
|
rs2049471711
|
|
|
NM_058216.3(RAD51C):c.994C>A (p.Gln332Lys)
|
rs1555605074
|
|
|
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)
|
rs1555605074
|
|
|
NM_058216.3(RAD51C):c.999G>A (p.Lys333=)
|
rs2049471981
|
|
|
NM_058216.3(RAD51C):c.999G>T (p.Lys333Asn)
|
rs2049471981
|
|
|
NM_058216.3(RAD51C):c.99G>C (p.Gln33His)
|
rs1598449381
|
|
|
NM_058216.3(RAD51C):c.99G>T (p.Gln33His)
|
rs1598449381
|
|
|
NM_058216.3(RAD51C):c.9G>A (p.Gly3=)
|
rs751117852
|
|
|
NM_058216.3(RAD51C):c.9G>T (p.Gly3=)
|
rs751117852
|
|
|
Single allele
|
|
|