NM_001081.4(CUBN):c.348+2T>C
|
rs146047781
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_002454.3(MTRR):c.1769+1G>A
|
rs778738842
|
0.00009
|
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)
|
rs121434322
|
0.00008
|
NM_020937.4(FANCM):c.4318-1G>A
|
rs752228025
|
0.00008
|
NM_018368.4(LMBRD1):c.1338+2T>C
|
rs147270670
|
0.00007
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val)
|
rs146717589
|
0.00006
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000254.3(MTR):c.250-1G>C
|
rs145939391
|
0.00004
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
NM_020937.4(FANCM):c.5340+1G>T
|
rs754297345
|
0.00004
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001113378.2(FANCI):c.1891-2A>G
|
rs776329920
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
0.00002
|
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)
|
rs119478058
|
0.00002
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00002
|
NM_000135.4(FANCA):c.1776+1G>A
|
rs756140957
|
0.00001
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
NM_000135.4(FANCA):c.1900+1G>A
|
rs1598120768
|
0.00001
|
NM_000135.4(FANCA):c.2222+1G>A
|
rs775388912
|
0.00001
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.3513+1G>A
|
rs1188082371
|
0.00001
|
NM_000135.4(FANCA):c.3766-2A>G
|
rs1219402916
|
0.00001
|
NM_000135.4(FANCA):c.4011-3_4011-2del
|
rs911481295
|
0.00001
|
NM_000135.4(FANCA):c.522+1G>T
|
rs1365019056
|
0.00001
|
NM_000135.4(FANCA):c.79+1G>A
|
rs1483028018
|
0.00001
|
NM_000136.3(FANCC):c.1329+1G>T
|
rs1554829441
|
0.00001
|
NM_000136.3(FANCC):c.166-2A>G
|
rs587777945
|
0.00001
|
NM_000136.3(FANCC):c.345+1G>A
|
rs1175257797
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000254.3(MTR):c.1812+1G>A
|
rs778242201
|
0.00001
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
NM_000289.6(PFKM):c.1413-2A>G
|
rs1430517061
|
0.00001
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
NM_000289.6(PFKM):c.936+1G>A
|
rs1949974650
|
0.00001
|
NM_001018113.3(FANCB):c.1327-1G>A
|
rs1295003944
|
0.00001
|
NM_001018115.3(FANCD2):c.2494+2T>C
|
rs779552164
|
0.00001
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
NM_001081.4(CUBN):c.4856-1del
|
rs750520309
|
0.00001
|
NM_001113378.2(FANCI):c.3058+1G>A
|
rs149464307
|
0.00001
|
NM_001113378.2(FANCI):c.3721-1G>C
|
rs1173483373
|
0.00001
|
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)
|
rs1557229854
|
0.00001
|
NM_002454.3(MTRR):c.1554_1557+3del
|
rs754619743
|
0.00001
|
NM_002454.3(MTRR):c.401+1G>A
|
rs1400065323
|
0.00001
|
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)
|
rs767443643
|
0.00001
|
NM_004629.2(FANCG):c.1637-2del
|
rs1224034435
|
0.00001
|
NM_004629.2(FANCG):c.175+1G>A
|
rs927868500
|
0.00001
|
NM_004629.2(FANCG):c.85-2A>T
|
rs759590778
|
0.00001
|
NM_005236.3(ERCC4):c.1102+1G>T
|
rs1314323456
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser)
|
rs1553162901
|
0.00001
|
NM_015702.3(MMADHC):c.10-1G>C
|
rs1573880177
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015702.3(MMADHC):c.372+1G>A
|
rs755561981
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
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.692-2A>G
|
rs1558737575
|
0.00001
|
NM_018368.4(LMBRD1):c.562+1G>A
|
rs372279393
|
0.00001
|
NM_020937.4(FANCM):c.1397-1G>T
|
rs1887394029
|
0.00001
|
NM_021922.3(FANCE):c.1238-1G>C
|
rs1767507722
|
0.00001
|
NM_021922.3(FANCE):c.248+1del
|
rs1767163932
|
0.00001
|
NM_022725.4(FANCF):c.690del (p.Gly231fs)
|
rs747622521
|
0.00001
|
NM_030943.4(AMN):c.844-1G>C
|
rs969552874
|
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.2379+1G>A
|
rs1555590286
|
0.00001
|
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val)
|
rs1483709056
|
0.00001
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
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_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)
|
rs759292615
|
0.00001
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
NM_058216.3(RAD51C):c.572-2A>G
|
rs145310733
|
0.00001
|
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)
|
rs779834376
|
0.00001
|
NC_000002.12:g.(?_58159755)_(58165884_?)del
|
|
|
NC_000003.11:g.(?_10084233)_(10085286_?)del
|
|
|
NC_000003.11:g.(?_10091048)_(10140634_?)del
|
|
|
NC_000003.11:g.(?_10132039)_(10132856_?)del
|
|
|
NC_000003.11:g.(?_197680864)_(197682644_?)del
|
|
|
NC_000003.11:g.(?_3179743)_(3189406_?)del
|
|
|
NC_000005.10:g.(?_7883145)_(7892923_?)del
|
|
|
NC_000005.9:g.(?_7889198)_(7897370_?)del
|
|
|
NC_000006.11:g.(?_35423579)_(35424285_?)del
|
|
|
NC_000006.11:g.(?_35423579)_35424285del
|
|
|
NC_000006.12:g.(?_34417506)_(34421817_?)del
|
|
|
NC_000009.11:g.(?_97876901)_(97934439_?)dup
|
|
|
NC_000009.12:g.(?_95171069)_(95172157_?)dup
|
|
|
NC_000011.9:g.(?_59603261)_(59604844_?)dup
|
|
|
NC_000014.8:g.(?_45618020)_(45669211_?)del
|
|
|
NC_000014.8:g.(?_45623113)_(45669211_?)del
|
|
|
NC_000014.8:g.(?_45628293)_(45628489_?)dup
|
|
|
NC_000014.9:g.(?_45153910)_(45200018_?)del
|
|
|
NC_000015.9:g.(?_89843021)_(89860052_?)del
|
|
|
NC_000016.10:g.(?_89758567)_(89762032_?)dup
|
|
|
NC_000016.10:g.(?_89764807)_(89779967_?)del
|
|
|
NC_000016.10:g.(?_89764884)_(89779963_?)del
|
|
|
NC_000016.10:g.(?_89791393)_(89799648_?)del
|
|
|
NC_000016.9:g.(?_3634750)_(3634892_?)dup
|
|
|
NC_000016.9:g.(?_3634764)_(3634878_?)dup
|
|
|
NC_000016.9:g.(?_89804999)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89811357)_(89851382_?)dup
|
|
|
NC_000016.9:g.(?_89811367)_(89851372_?)dup
|
|
|
NC_000016.9:g.(?_89816056)_(89816320_?)dup
|
|
|
NC_000016.9:g.(?_89818526)_(89833665_?)dup
|
|
|
NC_000016.9:g.(?_89818536)_(89818822_?)dup
|
|
|
NC_000016.9:g.(?_89824976)_(89831435_?)del
|
|
|
NC_000016.9:g.(?_89828347)_(89846375_?)dup
|
|
|
NC_000016.9:g.(?_89831215)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89842140)_(89851382_?)dup
|
|
|
NC_000016.9:g.(?_89857801)_(89881031_?)del
|
|
|
NC_000016.9:g.(?_89864654)_(89866056_?)dup
|
|
|
NC_000016.9:g.(?_89869657)_(89877489_?)dup
|
|
|
NC_000017.10:g.(?_56774149)_(56777997_?)del
|
|
|
NC_000017.10:g.(?_56780547)_(56787361_?)dup
|
|
|
NC_000017.10:g.(?_56798101)_(56798179_?)dup
|
|
|
NC_000017.10:g.(?_56811469)_(56811583_?)del
|
|
|
NC_000017.10:g.(?_59770781)_(59770883_?)dup
|
|
|
NC_000017.10:g.(?_59770785)_(59770879_?)dup
|
|
|
NC_000017.10:g.(?_59858191)_(59858864_?)dup
|
|
|
NC_000017.10:g.(?_59861621)_(59937278_?)dup
|
|
|
NC_000017.10:g.(?_59861625)_(59937274_?)dup
|
|
|
NC_000017.10:g.(?_59870948)_(59886128_?)dup
|
|
|
NC_000017.10:g.(?_59878604)_(59878845_?)del
|
|
|
NC_000017.10:g.(?_59878633)_(59883057_?)del
|
|
|
NC_000017.10:g.(?_59878633)_59883038del
|
|
|
NC_000017.10:g.(?_59924456)_(59926623_?)dup
|
|
|
NC_000017.10:g.(?_59924462)_(59926617_?)dup
|
|
|
NC_000017.11:g.(?_58703186)_(58703339_?)dup
|
|
|
NC_000017.11:g.(?_58709849)_(58710000_?)del
|
|
|
NC_000017.11:g.(?_58709853)_(58709996_?)del
|
|
|
NC_000017.11:g.(?_58720736)_(58720822_?)dup
|
|
|
NC_000017.11:g.(?_58734108)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_58734112)_(58734228_?)del
|
|
|
NC_000017.11:g.(?_61808457)_(61808767_?)del
|
|
|
NC_000017.11:g.(?_61847091)_(61847230_?)del
|
|
|
NC_000017.11:g.(?_61861441)_(61861545_?)del
|
|
|
NC_000023.11:g.(?_14857852)_(14859344_?)del
|
|
|
NM_000096.4(CP):c.2078-75_2241del
|
|
|
NM_000096.4(CP):c.2879-1G>T
|
rs386134141
|
|
NM_000096.4(CP):c.848G>C (p.Trp283Ser)
|
rs386134126
|
|
NM_000135.4(FANCA):c.1006+1G>T
|
rs1555564436
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
NM_000135.4(FANCA):c.1083+1G>A
|
|
|
NM_000135.4(FANCA):c.1225+2T>A
|
|
|
NM_000135.4(FANCA):c.1225+2T>G
|
|
|
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1308G>C (p.Gln436His)
|
rs1316078638
|
|
NM_000135.4(FANCA):c.1360-2A>G
|
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1566+1G>T
|
|
|
NM_000135.4(FANCA):c.1566+2C>G
|
|
|
NM_000135.4(FANCA):c.1567-1G>C
|
rs1464032361
|
|
NM_000135.4(FANCA):c.1627-2A>G
|
rs2143433058
|
|
NM_000135.4(FANCA):c.1715+1G>A
|
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1716-2A>G
|
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.1777-2A>G
|
rs2143422990
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
NM_000135.4(FANCA):c.1826+2T>A
|
rs2039603867
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.190-2_203del
|
rs2143711687
|
|
NM_000135.4(FANCA):c.1900+1G>T
|
rs1598120768
|
|
NM_000135.4(FANCA):c.1901-2A>G
|
rs1555549535
|
|
NM_000135.4(FANCA):c.2014+1G>A
|
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2015-2A>C
|
rs2143351760
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
NM_000135.4(FANCA):c.2151+2T>C
|
rs937874201
|
|
NM_000135.4(FANCA):c.2152-1G>A
|
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2317-1G>A
|
rs1230207719
|
|
NM_000135.4(FANCA):c.2317-1G>T
|
rs1230207719
|
|
NM_000135.4(FANCA):c.2504+1G>C
|
rs2039260545
|
|
NM_000135.4(FANCA):c.2505-1G>C
|
rs1438990537
|
|
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
|
|
|
NM_000135.4(FANCA):c.2779-1G>T
|
rs2143261385
|
|
NM_000135.4(FANCA):c.283+1_283+11del
|
rs2143710613
|
|
NM_000135.4(FANCA):c.284-1G>C
|
rs781216924
|
|
NM_000135.4(FANCA):c.284-2A>C
|
|
|
NM_000135.4(FANCA):c.284-940_339del
|
|
|
NM_000135.4(FANCA):c.2852+2T>G
|
rs766875860
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
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.3067-2A>G
|
rs2143140176
|
|
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3240-1G>A
|
rs2038478071
|
|
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
|
|
|
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)
|
rs2143109078
|
|
NM_000135.4(FANCA):c.3408+1G>C
|
rs1567601557
|
|
NM_000135.4(FANCA):c.3409-2A>G
|
|
|
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.3513+1G>C
|
|
|
NM_000135.4(FANCA):c.3514-1G>T
|
rs2143088468
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3626+1G>C
|
rs34885858
|
|
NM_000135.4(FANCA):c.3626+2T>G
|
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
NM_000135.4(FANCA):c.3765+2C>T
|
rs776827467
|
|
NM_000135.4(FANCA):c.3766-1G>A
|
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
NM_000135.4(FANCA):c.3829-71_3868del
|
|
|
NM_000135.4(FANCA):c.3934+1G>A
|
rs2062087795
|
|
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.4199G>C (p.Arg1400Pro)
|
rs149851163
|
|
NM_000135.4(FANCA):c.423_426+14del
|
rs2143678941
|
|
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.4260+1G>A
|
rs1060501887
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
|
rs1598048941
|
|
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.522+2T>C
|
rs2143677013
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
NM_000135.4(FANCA):c.523-2A>G
|
rs746518509
|
|
NM_000135.4(FANCA):c.596+1G>A
|
|
|
NM_000135.4(FANCA):c.596+1G>C
|
rs2143656696
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.710-1G>A
|
|
|
NM_000135.4(FANCA):c.710-1G>T
|
|
|
NM_000135.4(FANCA):c.793-2A>G
|
|
|
NM_000135.4(FANCA):c.826+2T>C
|
rs2143585058
|
|
NM_000135.4(FANCA):c.827-1G>A
|
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.893+1G>C
|
|
|
NM_000136.3(FANCC):c.1072+1G>A
|
rs1554830789
|
|
NM_000136.3(FANCC):c.1072+2T>A
|
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1155-2A>G
|
rs1343170313
|
|
NM_000136.3(FANCC):c.1330-2A>C
|
rs2134456820
|
|
NM_000136.3(FANCC):c.1330-2A>G
|
|
|
NM_000136.3(FANCC):c.165+1del
|
rs1554858249
|
|
NM_000136.3(FANCC):c.250+1G>A
|
rs2136090597
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.346-1G>T
|
rs1484503633
|
|
NM_000136.3(FANCC):c.456+1G>A
|
rs2135587402
|
|
NM_000136.3(FANCC):c.457-1G>T
|
rs1057516917
|
|
NM_000136.3(FANCC):c.686+1G>C
|
rs1057517125
|
|
NM_000136.3(FANCC):c.686+1G>T
|
rs1057517125
|
|
NM_000136.3(FANCC):c.687-1G>A
|
rs1588134748
|
|
NM_000136.3(FANCC):c.843+1G>C
|
rs587779909
|
|
NM_000136.3(FANCC):c.843+1G>T
|
rs587779909
|
|
NM_000136.3(FANCC):c.844-1G>A
|
|
|
NM_000136.3(FANCC):c.844-1G>T
|
rs774209201
|
|
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.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_000254.3(MTR):c.1135A>G (p.Asn379Asp)
|
rs1662641467
|
|
NM_000254.3(MTR):c.1188+1G>A
|
rs2103130072
|
|
NM_000254.3(MTR):c.1330-2A>T
|
|
|
NM_000254.3(MTR):c.1515+2T>C
|
|
|
NM_000254.3(MTR):c.1954-12A>G
|
|
|
NM_000254.3(MTR):c.2021G>A (p.Arg674His)
|
rs774231870
|
|
NM_000254.3(MTR):c.2044-1G>A
|
|
|
NM_000254.3(MTR):c.2305-1G>T
|
rs1664661222
|
|
NM_000254.3(MTR):c.2305-2A>G
|
|
|
NM_000254.3(MTR):c.2406-2A>T
|
|
|
NM_000254.3(MTR):c.2595-2A>G
|
rs1558334603
|
|
NM_000254.3(MTR):c.2758C>G (p.His920Asp)
|
rs121913579
|
|
NM_000254.3(MTR):c.2775+1G>T
|
|
|
NM_000254.3(MTR):c.2851+2T>G
|
rs2147922731
|
|
NM_000254.3(MTR):c.3007+1G>C
|
|
|
NM_000254.3(MTR):c.3008-2A>G
|
|
|
NM_000254.3(MTR):c.3008-4A>G
|
rs1224783275
|
|
NM_000254.3(MTR):c.34+2T>C
|
|
|
NM_000254.3(MTR):c.3406-2A>G
|
|
|
NM_000254.3(MTR):c.503-2A>G
|
|
|
NM_000254.3(MTR):c.866-2A>C
|
|
|
NM_000254.3(MTR):c.927+1G>A
|
|
|
NM_000254.3(MTR):c.927+1G>C
|
rs1572218599
|
|
NM_000289.6(PFKM):c.1062+1G>A
|
|
|
NM_000289.6(PFKM):c.1062+2T>C
|
rs2135957798
|
|
NM_000289.6(PFKM):c.1127+1G>T
|
rs2135976459
|
|
NM_000289.6(PFKM):c.1128-2A>G
|
|
|
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
|
|
|
NM_000289.6(PFKM):c.1192-2A>G
|
|
|
NM_000289.6(PFKM):c.1341+1G>C
|
|
|
NM_000289.6(PFKM):c.1342-1G>C
|
|
|
NM_000289.6(PFKM):c.1412+1G>T
|
|
|
NM_000289.6(PFKM):c.1412+2T>C
|
|
|
NM_000289.6(PFKM):c.1501-2del
|
rs1410122696
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000289.6(PFKM):c.1653+2T>G
|
|
|
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
|
|
|
NM_000289.6(PFKM):c.1992+1G>T
|
|
|
NM_000289.6(PFKM):c.2047_2092+14del
|
|
|
NM_000289.6(PFKM):c.2092+2T>C
|
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000289.6(PFKM):c.594-1G>A
|
|
|
NM_000289.6(PFKM):c.638+1G>T
|
|
|
NM_000289.6(PFKM):c.936+2T>G
|
|
|
NM_000355.4(TCN2):c.258-1G>A
|
|
|
NM_000355.4(TCN2):c.428-2A>G
|
rs2087581122
|
|
NM_000355.4(TCN2):c.580+1G>C
|
|
|
NM_000355.4(TCN2):c.65-1_65delinsTT
|
rs2145536487
|
|
NM_000355.4(TCN2):c.941-2A>G
|
|
|
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg)
|
rs137852344
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
NM_000969.5(RPL5):c.190-7_190-2del
|
rs1064796479
|
|
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro)
|
rs878854146
|
|
NM_000969.5(RPL5):c.4-10T>A
|
rs1686989669
|
|
NM_000969.5(RPL5):c.4-1G>A
|
|
|
NM_000969.5(RPL5):c.527+1G>T
|
rs2100685111
|
|
NM_000969.5(RPL5):c.74-2A>G
|
rs2100676852
|
|
NM_000969.5(RPL5):c.74-2del
|
|
|
NM_000975.5(RPL11):c.136_157+26del
|
rs2124429146
|
|
NM_000975.5(RPL11):c.264+1G>A
|
rs1553121795
|
|
NM_000975.5(RPL11):c.265-2A>G
|
rs2124430919
|
|
NM_000975.5(RPL11):c.296_298del (p.Phe99del)
|
rs1553121852
|
|
NM_000975.5(RPL11):c.465_466del (p.His155fs)
|
rs1644530053
|
|
NM_000996.4(RPL35A):c.164+1G>A
|
rs113752862
|
|
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr)
|
rs1720051488
|
|
NM_001011.4(RPS7):c.75+1G>T
|
|
|
NM_001014.5(RPS10):c.401-2A>G
|
rs1765648528
|
|
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)
|
rs879254329
|
|
NM_001018115.3(FANCD2):c.1098+2T>A
|
|
|
NM_001018115.3(FANCD2):c.1134+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1413+2T>C
|
rs1459222478
|
|
NM_001018115.3(FANCD2):c.1546-1G>A
|
|
|
NM_001018115.3(FANCD2):c.1656+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1766+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1947+1G>A
|
|
|
NM_001018115.3(FANCD2):c.205+1G>A
|
rs2124970985
|
|
NM_001018115.3(FANCD2):c.2168_2168+1delinsT
|
rs2087674573
|
|
NM_001018115.3(FANCD2):c.2169-1G>C
|
rs141783465
|
|
NM_001018115.3(FANCD2):c.2269+1G>A
|
|
|
NM_001018115.3(FANCD2):c.2270-1G>C
|
|
|
NM_001018115.3(FANCD2):c.2495-2A>G
|
|
|
NM_001018115.3(FANCD2):c.3224+1G>C
|
|
|
NM_001018115.3(FANCD2):c.3224+1G>T
|
rs1468320596
|
|
NM_001018115.3(FANCD2):c.3467-2A>G
|
|
|
NM_001018115.3(FANCD2):c.3560+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3561-1del
|
rs2125077559
|
|
NM_001018115.3(FANCD2):c.3749_3777+789del
|
rs2125081509
|
|
NM_001018115.3(FANCD2):c.3849+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3849+1G>T
|
|
|
NM_001018115.3(FANCD2):c.3889-1G>A
|
|
|
NM_001018115.3(FANCD2):c.3963_3963+1inv
|
|
|
NM_001018115.3(FANCD2):c.4038+2T>G
|
|
|
NM_001018115.3(FANCD2):c.4039-2A>G
|
|
|
NM_001018115.3(FANCD2):c.571-2A>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.65-1G>T
|
|
|
NM_001018115.3(FANCD2):c.694_695+14del
|
|
|
NM_001018115.3(FANCD2):c.695+1G>A
|
|
|
NM_001018115.3(FANCD2):c.695+2T>A
|
|
|
NM_001018115.3(FANCD2):c.888+1G>A
|
|
|
NM_001018115.3(FANCD2):c.889-2A>G
|
|
|
NM_001022.4(RPS19):c.356+1G>A
|
rs879993801
|
|
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.71+1G>C
|
rs2123256342
|
|
NM_001022.4(RPS19):c.72-1G>A
|
rs146366047
|
|
NM_001029.5(RPS26):c.224_225del (p.Val75fs)
|
rs1555208596
|
|
NM_001029.5(RPS26):c.3+2T>G
|
rs2136753495
|
|
NM_001029.5(RPS26):c.4-1_6del
|
|
|
NM_001081.4(CUBN):c.10033-1G>A
|
|
|
NM_001081.4(CUBN):c.1015+1G>A
|
|
|
NM_001081.4(CUBN):c.10528+1G>A
|
|
|
NM_001081.4(CUBN):c.3008+2_3008+5del
|
rs2131844654
|
|
NM_001081.4(CUBN):c.3829+1G>A
|
|
|
NM_001081.4(CUBN):c.4350+2T>C
|
rs371489485
|
|
NM_001081.4(CUBN):c.4969+2T>G
|
|
|
NM_001081.4(CUBN):c.6822-1G>A
|
|
|
NM_001081.4(CUBN):c.7001-2A>T
|
rs2131458620
|
|
NM_001081.4(CUBN):c.7001-2del
|
rs756427983
|
|
NM_001081.4(CUBN):c.8063-1G>A
|
|
|
NM_001081.4(CUBN):c.8755+2T>C
|
|
|
NM_001081.4(CUBN):c.884-1G>A
|
|
|
NM_001081.4(CUBN):c.9237-1G>C
|
|
|
NM_001113378.2(FANCI):c.1113-1G>A
|
rs2151485792
|
|
NM_001113378.2(FANCI):c.1293+1G>A
|
rs768310043
|
|
NM_001113378.2(FANCI):c.1293+2T>G
|
|
|
NM_001113378.2(FANCI):c.1381+1G>T
|
|
|
NM_001113378.2(FANCI):c.1512+1G>A
|
rs2151551135
|
|
NM_001113378.2(FANCI):c.157+1G>A
|
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
NM_001113378.2(FANCI):c.1584-1G>C
|
|
|
NM_001113378.2(FANCI):c.1698+1G>A
|
|
|
NM_001113378.2(FANCI):c.2169+1G>A
|
|
|
NM_001113378.2(FANCI):c.2169+2T>C
|
|
|
NM_001113378.2(FANCI):c.2291+1G>A
|
|
|
NM_001113378.2(FANCI):c.2291+2T>A
|
rs1400441798
|
|
NM_001113378.2(FANCI):c.2292-1G>T
|
|
|
NM_001113378.2(FANCI):c.2456+1G>A
|
|
|
NM_001113378.2(FANCI):c.2457-2A>G
|
rs2054196709
|
|
NM_001113378.2(FANCI):c.2637-1G>C
|
|
|
NM_001113378.2(FANCI):c.2804-1G>C
|
rs2054480330
|
|
NM_001113378.2(FANCI):c.2804-2A>T
|
|
|
NM_001113378.2(FANCI):c.2889+2T>C
|
|
|
NM_001113378.2(FANCI):c.3006+1G>A
|
|
|
NM_001113378.2(FANCI):c.3007-1G>A
|
|
|
NM_001113378.2(FANCI):c.3007-1G>C
|
|
|
NM_001113378.2(FANCI):c.3058+1G>C
|
|
|
NM_001113378.2(FANCI):c.3187-2A>G
|
|
|
NM_001113378.2(FANCI):c.3255+1G>C
|
rs779079622
|
|
NM_001113378.2(FANCI):c.3538-2A>T
|
rs1407605188
|
|
NM_001113378.2(FANCI):c.3652-1G>T
|
|
|
NM_001113378.2(FANCI):c.3924+1G>A
|
rs864622739
|
|
NM_001113378.2(FANCI):c.446-2A>G
|
|
|
NM_001113378.2(FANCI):c.504-2A>G
|
|
|
NM_001113378.2(FANCI):c.542_545+57del
|
|
|
NM_001113378.2(FANCI):c.84+2_84+3del
|
|
|
NM_001113378.2(FANCI):c.85-1G>A
|
|
|
NM_001113378.2(FANCI):c.85-1G>T
|
|
|
NM_001113378.2(FANCI):c.85-2A>G
|
|
|
NM_001113378.2(FANCI):c.879_882+14del
|
|
|
NM_001113378.2(FANCI):c.882+2T>A
|
rs2053066295
|
|
NM_001113378.2(FANCI):c.882+2T>C
|
|
|
NM_001113378.2(FANCI):c.976-1G>T
|
|
|
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys)
|
rs2148328873
|
|
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
|
|
|
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys)
|
rs2070346788
|
|
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His)
|
rs72554665
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
|
|
|
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)
|
rs1557230573
|
|
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
|
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
|
|
|
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr)
|
rs2070702973
|
|
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
|
|
|
NM_001365304.2(LOC112694756):c.*1133+2T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1134-2A>G
|
|
|
NM_002049.4(GATA1):c.220+1G>A
|
rs1569499366
|
|
NM_002049.4(GATA1):c.220+1G>C
|
rs1569499366
|
|
NM_002454.3(MTRR):c.1146+1G>C
|
rs772608494
|
|
NM_002454.3(MTRR):c.130-1G>A
|
|
|
NM_002454.3(MTRR):c.1327+1G>A
|
|
|
NM_002454.3(MTRR):c.1371-1G>A
|
rs1219605974
|
|
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)
|
rs137853061
|
|
NM_002454.3(MTRR):c.1677-1G>A
|
|
|
NM_002454.3(MTRR):c.1A>G (p.Met1Val)
|
rs1747827267
|
|
NM_002454.3(MTRR):c.283+1G>A
|
|
|
NM_002454.3(MTRR):c.283+1_283+20del
|
rs1748371268
|
|
NM_002454.3(MTRR):c.401+2_401+7del
|
rs2126676051
|
|
NM_002454.3(MTRR):c.402-1G>C
|
|
|
NM_002454.3(MTRR):c.402-1G>T
|
rs1734858651
|
|
NM_002454.3(MTRR):c.402-2A>G
|
rs2126692827
|
|
NM_002454.3(MTRR):c.781-2A>C
|
|
|
NM_002454.3(MTRR):c.904-1G>T
|
|
|
NM_002454.3(MTRR):c.904-2A>G
|
|
|
NM_002454.3(MTRR):c.973_1146+462del
|
|
|
NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)
|
|
|
NM_004629.2(FANCG):c.1433+1G>A
|
rs1829065047
|
|
NM_004629.2(FANCG):c.1434-1G>C
|
|
|
NM_004629.2(FANCG):c.1434-2A>C
|
rs1829062071
|
|
NM_004629.2(FANCG):c.1481-1G>C
|
rs2131053141
|
|
NM_004629.2(FANCG):c.1636+1_1636+5delinsA
|
rs1829054259
|
|
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.1747G>T (p.Glu583Ter)
|
rs786204205
|
|
NM_004629.2(FANCG):c.176-1G>A
|
rs2131059176
|
|
NM_004629.2(FANCG):c.308-1G>A
|
|
|
NM_004629.2(FANCG):c.511-3_511-2del
|
rs1491369358
|
|
NM_004629.2(FANCG):c.646+1G>T
|
rs1028569753
|
|
NM_004629.2(FANCG):c.647-2_649del
|
rs2131056701
|
|
NM_004629.2(FANCG):c.777+1G>A
|
rs1060501862
|
|
NM_004629.2(FANCG):c.778-1G>A
|
rs767518932
|
|
NM_004629.2(FANCG):c.778-1G>C
|
rs767518932
|
|
NM_004629.2(FANCG):c.84+1G>A
|
|
|
NM_004629.2(FANCG):c.85-1G>A
|
rs1052044702
|
|
NM_004629.2(FANCG):c.924+1G>A
|
rs1829091761
|
|
NM_004629.2(FANCG):c.925-1G>C
|
|
|
NM_004629.2(FANCG):c.925-1G>T
|
|
|
NM_005050.4(ABCD4):c.1457-1G>C
|
|
|
NM_005142.3(CBLIF):c.370+83_426del
|
|
|
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
|
rs149364215
|
|
NM_005236.3(ERCC4):c.580_584+1del
|
rs776329282
|
|
NM_006363.6(SEC23B):c.1109+1G>C
|
|
|
NM_006363.6(SEC23B):c.1233_1233+1dup
|
|
|
NM_006363.6(SEC23B):c.1314+1G>A
|
|
|
NM_006363.6(SEC23B):c.1314_1314+10del
|
|
|
NM_006363.6(SEC23B):c.1404+5G>A
|
rs1555789463
|
|
NM_006363.6(SEC23B):c.1511+2_1511+5del
|
|
|
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
|
|
|
NM_006363.6(SEC23B):c.1905+1G>A
|
|
|
NM_006363.6(SEC23B):c.221+1G>A
|
|
|
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
|
|
|
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
|
|
|
NM_006363.6(SEC23B):c.279+1G>A
|
|
|
NM_006363.6(SEC23B):c.366+1G>A
|
|
|
NM_006363.6(SEC23B):c.367-1G>T
|
|
|
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
|
|
|
NM_015506.3(MMACHC):c.276+2T>C
|
|
|
NM_015506.3(MMACHC):c.276+2del
|
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
NM_015506.3(MMACHC):c.277-1G>A
|
|
|
NM_015506.3(MMACHC):c.277-2A>G
|
rs202000595
|
|
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.366T>A (p.His122Gln)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.366T>G (p.His122Gln)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
|
|
|
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
|
|
|
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)
|
rs768353633
|
|
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
|
|
|
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
|
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015702.3(MMADHC):c.10-1G>A
|
|
|
NM_015702.3(MMADHC):c.10-2A>G
|
|
|
NM_015702.3(MMADHC):c.154+1G>C
|
rs1385597423
|
|
NM_015702.3(MMADHC):c.155-2A>G
|
|
|
NM_015702.3(MMADHC):c.373-1G>A
|
rs764179800
|
|
NM_015702.3(MMADHC):c.478+1G>C
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
NM_018062.4(FANCL):c.1021-2A>G
|
|
|
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
|
|
|
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.1072G>T (p.Glu358Ter)
|
|
|
NM_018062.4(FANCL):c.1092+1_1092+5del
|
rs1558727300
|
|
NM_018062.4(FANCL):c.217-2A>G
|
|
|
NM_018062.4(FANCL):c.273+1G>A
|
rs144729980
|
|
NM_018062.4(FANCL):c.471+1G>A
|
|
|
NM_018062.4(FANCL):c.471+2T>C
|
|
|
NM_018062.4(FANCL):c.541-2A>C
|
|
|
NM_018062.4(FANCL):c.775+2T>C
|
|
|
NM_018062.4(FANCL):c.821+1G>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.904-1G>A
|
rs2104783888
|
|
NM_018062.4(FANCL):c.96+2T>A
|
|
|
NM_018062.4(FANCL):c.96+2T>C
|
|
|
NM_018368.4(LMBRD1):c.1084-1G>A
|
|
|
NM_018368.4(LMBRD1):c.1187_1188+2del
|
|
|
NM_018368.4(LMBRD1):c.1189-1G>A
|
rs2149843526
|
|
NM_018368.4(LMBRD1):c.1338+1G>C
|
|
|
NM_018368.4(LMBRD1):c.307+2del
|
|
|
NM_018368.4(LMBRD1):c.308-1G>A
|
|
|
NM_018368.4(LMBRD1):c.405+2T>C
|
|
|
NM_018368.4(LMBRD1):c.562+1G>C
|
|
|
NM_018368.4(LMBRD1):c.562+1G>T
|
|
|
NM_018368.4(LMBRD1):c.69+1G>A
|
|
|
NM_018368.4(LMBRD1):c.69+2T>G
|
|
|
NM_018368.4(LMBRD1):c.762+1G>A
|
|
|
NM_018368.4(LMBRD1):c.763-2A>C
|
|
|
NM_018368.4(LMBRD1):c.763-2A>G
|
|
|
NM_018368.4(LMBRD1):c.763-6_771del
|
|
|
NM_020937.4(FANCM):c.1051-2A>T
|
rs1886997142
|
|
NM_020937.4(FANCM):c.1397-1_1407del
|
|
|
NM_020937.4(FANCM):c.1581+1G>A
|
rs373430198
|
|
NM_020937.4(FANCM):c.2316+2T>A
|
rs2139235421
|
|
NM_020937.4(FANCM):c.4318-2A>G
|
|
|
NM_020937.4(FANCM):c.4386+1G>A
|
rs1889085249
|
|
NM_020937.4(FANCM):c.4673-1G>A
|
|
|
NM_020937.4(FANCM):c.4673-2A>C
|
rs2139291763
|
|
NM_020937.4(FANCM):c.4780-2A>G
|
rs1889569618
|
|
NM_020937.4(FANCM):c.5340+2T>C
|
|
|
NM_020937.4(FANCM):c.682-2A>G
|
rs1885847871
|
|
NM_020937.4(FANCM):c.759+2T>C
|
rs902753970
|
|
NM_021922.3(FANCE):c.1113+1G>A
|
rs2150895088
|
|
NM_021922.3(FANCE):c.1237+1G>A
|
|
|
NM_021922.3(FANCE):c.248+1G>A
|
rs1480350743
|
|
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG
|
rs2150889955
|
|
NM_030943.4(AMN):c.1169+2T>C
|
|
|
NM_030943.4(AMN):c.1170-1G>C
|
|
|
NM_030943.4(AMN):c.1314_1315del (p.His438fs)
|
rs386834167
|
|
NM_030943.4(AMN):c.138_162+20del
|
|
|
NM_030943.4(AMN):c.207+1G>A
|
|
|
NM_030943.4(AMN):c.296-1G>A
|
|
|
NM_030943.4(AMN):c.44-1G>A
|
|
|
NM_030943.4(AMN):c.44-2A>T
|
|
|
NM_030943.4(AMN):c.513+2T>C
|
|
|
NM_030943.4(AMN):c.513+2del
|
|
|
NM_030943.4(AMN):c.514-34G>A
|
rs144077391
|
|
NM_030943.4(AMN):c.651+1G>T
|
|
|
NM_030943.4(AMN):c.652-2A>G
|
|
|
NM_030943.4(AMN):c.760+1G>A
|
rs1555381485
|
|
NM_032043.2(BRIP1):c.2493-?_2575+?dup
|
|
|
NM_032043.2(BRIP1):c.919-?_1140+?del
|
|
|
NM_032043.3(BRIP1):c.1140+1G>A
|
rs1555607628
|
|
NM_032043.3(BRIP1):c.1141-2A>C
|
|
|
NM_032043.3(BRIP1):c.1141-2A>T
|
rs769583916
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
NM_032043.3(BRIP1):c.1340+2_1340+5del
|
rs2077945546
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
|
NM_032043.3(BRIP1):c.1341-2A>C
|
|
|
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.1474-2A>G
|
rs1603337052
|
|
NM_032043.3(BRIP1):c.1628+1G>C
|
rs1438975574
|
|
NM_032043.3(BRIP1):c.1629-17_1652del
|
|
|
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.1794+2T>G
|
|
|
NM_032043.3(BRIP1):c.1795-1G>A
|
rs1368457771
|
|
NM_032043.3(BRIP1):c.1795-1G>C
|
|
|
NM_032043.3(BRIP1):c.1795-2del
|
|
|
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp)
|
rs1567812484
|
|
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp)
|
rs1567812484
|
|
NM_032043.3(BRIP1):c.1935+1G>A
|
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
NM_032043.3(BRIP1):c.1936-1G>C
|
rs1555601204
|
|
NM_032043.3(BRIP1):c.1936-2A>G
|
rs878855143
|
|
NM_032043.3(BRIP1):c.205+2T>G
|
rs1060501763
|
|
NM_032043.3(BRIP1):c.205+5G>A
|
rs2078948368
|
|
NM_032043.3(BRIP1):c.205+5G>T
|
rs2078948368
|
|
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.2257+1G>A
|
rs2077029293
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2258-1G>C
|
|
|
NM_032043.3(BRIP1):c.2370_2379+20del
|
rs2144674380
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
NM_032043.3(BRIP1):c.2380-1G>A
|
rs1567756032
|
|
NM_032043.3(BRIP1):c.2380-2A>C
|
rs2144384449
|
|
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT
|
rs2061856480
|
|
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_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2493-2A>G
|
rs1603280621
|
|
NM_032043.3(BRIP1):c.2493-3_2493-1del
|
|
|
NM_032043.3(BRIP1):c.2575+1G>C
|
|
|
NM_032043.3(BRIP1):c.2575+1G>T
|
rs1567737536
|
|
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg)
|
rs2061476512
|
|
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.2899del (p.Glu967fs)
|
|
|
NM_032043.3(BRIP1):c.2905+1G>A
|
rs876660203
|
|
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
|
|
|
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
|
|
|
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs)
|
rs2144092520
|
|
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
|
|
|
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
|
|
|
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter)
|
rs1603275598
|
|
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
|
|
|
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs)
|
rs2144091036
|
|
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs)
|
rs2144091008
|
|
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
|
|
|
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs)
|
rs2144090521
|
|
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs)
|
rs2144090014
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)
|
rs1603275526
|
|
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
|
|
|
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs)
|
rs2061318961
|
|
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
|
|
|
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)
|
rs1603275438
|
|
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
|
|
|
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
|
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)
|
rs777213170
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)
|
rs786202927
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter)
|
rs770509300
|
|
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter)
|
rs1555572698
|
|
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
|
|
|
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)
|
rs1060501774
|
|
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter)
|
rs1555572681
|
|
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs)
|
rs1603275179
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
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.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
|
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
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.380-1G>C
|
rs2145767071
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
NM_032043.3(BRIP1):c.507+2T>A
|
|
|
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-2A>C
|
rs876659707
|
|
NM_032043.3(BRIP1):c.508-2A>T
|
rs876659707
|
|
NM_032043.3(BRIP1):c.627+1G>A
|
rs587780833
|
|
NM_032043.3(BRIP1):c.627+2T>A
|
rs2078745026
|
|
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.628-5_629del
|
rs1555609402
|
|
NM_032043.3(BRIP1):c.73_93+14del
|
rs2145863122
|
|
NM_032043.3(BRIP1):c.918+2790_1121del
|
|
|
NM_032043.3(BRIP1):c.919-1G>A
|
|
|
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+4_93+7del
|
rs1224034842
|
|
NM_032043.3(BRIP1):c.94-1G>A
|
|
|
NM_032444.4(SLX4):c.1163+1G>A
|
|
|
NM_032444.4(SLX4):c.1684-1G>A
|
|
|
NM_032444.4(SLX4):c.1684-2A>C
|
|
|
NM_032444.4(SLX4):c.2013+2T>C
|
|
|
NM_032444.4(SLX4):c.2161-2A>T
|
rs2151127331
|
|
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs)
|
rs1022072026
|
|
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
|
|
|
NM_032444.4(SLX4):c.5216_5217dup (p.Val1740fs)
|
rs2151115927
|
|
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs)
|
rs781479923
|
|
NM_032444.4(SLX4):c.951-1G>C
|
|
|
NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)
|
|
|
NM_058216.3(RAD51C):c.1003_1004insTTCC (p.Cys335fs)
|
|
|
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)
|
rs1555605103
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.1026+6T>A
|
rs2144046795
|
|
NM_058216.3(RAD51C):c.1030C>T (p.Gln344Ter)
|
|
|
NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter)
|
rs1555605532
|
|
NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs)
|
rs1064792966
|
|
NM_058216.3(RAD51C):c.1072C>T (p.Gln358Ter)
|
|
|
NM_058216.3(RAD51C):c.1080del (p.Gly361fs)
|
|
|
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG
|
rs878855177
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)
|
rs267606998
|
|
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.405-1G>A
|
rs587782036
|
|
NM_058216.3(RAD51C):c.405-2A>G
|
rs2048020646
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
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.571G>A (p.Glu191Lys)
|
rs1598460983
|
|
NM_058216.3(RAD51C):c.572-1G>C
|
rs1413872299
|
|
NM_058216.3(RAD51C):c.705+1G>T
|
rs876658644
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
NM_058216.3(RAD51C):c.837+1del
|
rs1555599288
|
|
NM_058216.3(RAD51C):c.838-2A>G
|
rs748589398
|
|
NM_058216.3(RAD51C):c.838-2A>T
|
rs748589398
|
|
NM_058216.3(RAD51C):c.894dup (p.Pro299fs)
|
rs2048893092
|
|
NM_058216.3(RAD51C):c.904+1G>A
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.904+1G>T
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.904+2T>C
|
rs2143932427
|
|
NM_058216.3(RAD51C):c.904_904+11del
|
|
|
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly)
|
rs730881932
|
|
NM_058216.3(RAD51C):c.946del (p.His316fs)
|
|
|
NM_058216.3(RAD51C):c.964del (p.Arg322fs)
|
rs1555603056
|
|
NM_058216.3(RAD51C):c.965+6T>A
|
|
|
NM_058216.3(RAD51C):c.990del (p.Ser331fs)
|
|
|
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)
|
rs1555605074
|
|
NM_182916.3(TRNT1):c.128_130del (p.Glu43del)
|
rs876661297
|
|
NM_182916.3(TRNT1):c.342+1G>T
|
|
|
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)
|
rs761516140
|
|
NM_206965.2(FTCD):c.1068_1098+24del
|
|
|
NM_206965.2(FTCD):c.1261-1G>A
|
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|