NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)
|
rs146464862
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)
|
rs765269946
|
0.00003
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
|
rs779169597
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_181789.4(GLDN):c.82G>C (p.Ala28Pro)
|
rs1016861963
|
0.00001
|
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
|
|
|
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
|
|
|
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
|
|
|
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
|
|
|
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
|
|
|
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
|
|
|
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
|
|
|
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
|
|
|
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
|
|
|
NC_000019.9:g.(11315008_11319361)_(11326604_11327589)del
|
|
|
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
|
|
|
NM_000079.4(CHRNA1):c.44-1G>A
|
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)
|
rs2143367693
|
|
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
|
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)
|
rs984285795
|
|
NM_000135.4(FANCA):c.427-3C>G
|
rs2040847223
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1533+1G>T
|
rs753885687
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)
|
rs730881731
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
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.514C>T (p.Gln172Ter)
|
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
|
|
|
NM_001018115.3(FANCD2):c.1827+1G>C
|
rs761074497
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
|
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001113378.2(FANCI):c.1512+1G>A
|
rs2151551135
|
|
NM_001113378.2(FANCI):c.295del (p.His99fs)
|
rs759398314
|
|
NM_001113378.2(FANCI):c.3187-2A>G
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
|
|
|
NM_001271938.2(MEGF8):c.7005+1G>T
|
rs1224632697
|
|
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
|
|
|
NM_001429.4(EP300):c.598C>T (p.Arg200Ter)
|
rs769721953
|
|
NM_001982.4(ERBB3):c.2938-3_2938-2del
|
|
|
NM_001982.4(ERBB3):c.3202-2A>G
|
|
|
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
|
|
|
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)
|
|
|
NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del)
|
|
|
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs)
|
rs1332257684
|
|
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter)
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter)
|
rs2048769063
|
|
NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)
|
|
|
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
|
rs1462766132
|
|
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)
|
rs755938406
|
|
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)
|
rs753272712
|
|
NM_032043.3(BRIP1):c.1473+1G>T
|
rs748274524
|
|
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
|
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter)
|
rs1555226581
|
|