NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
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_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.1375+2T>A
|
rs1483241325
|
0.00001
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.684-7_694del
|
rs1555921323
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.792+5G>C
|
rs876658514
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NM_024675.4(PALB2):c.3350+4A>C
|
rs180177136
|
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
|
NC_000002.11:g.(?_215557064)_(215646033_?)del
|
|
|
NC_000002.11:g.(?_215593400)_(215595242_?)del
|
|
|
NC_000002.11:g.(?_215595125)_(215595242_?)del
|
|
|
NC_000002.11:g.(?_215609781)_(215617289_?)dup
|
|
|
NC_000002.11:g.(?_215609781)_(215661851_?)dup
|
|
|
NC_000002.11:g.(?_215632196)_(215657179_?)del
|
|
|
NC_000002.11:g.(?_215635923)_(215645654_?)del
|
|
|
NC_000002.11:g.(?_215645274)_(215657179_?)dup
|
|
|
NC_000002.11:g.(?_215657001)_(215661861_?)dup
|
|
|
NC_000002.11:g.(?_215657011)_(215661851_?)dup
|
|
|
NC_000002.12:g.(?_214728666)_(214730518_?)del
|
|
|
NC_000002.12:g.(?_214730216)_(214769312_?)del
|
|
|
NC_000002.12:g.(?_214767472)_(214767664_?)dup
|
|
|
NC_000002.12:g.(?_214767472)_(214781519_?)dup
|
|
|
NC_000016.10:g.(?_23613994)_(23624104_?)del
|
|
|
NC_000016.10:g.(?_23613994)_(23626407_?)del
|
|
|
NC_000016.10:g.(?_23621352)_(23621488_?)del
|
|
|
NC_000016.10:g.(?_23621352)_(23624104_?)dup
|
|
|
NC_000016.10:g.(?_23621362)_(23623130_?)del
|
|
|
NC_000016.9:g.(?_23619175)_(23619343_?)dup
|
|
|
NC_000016.9:g.(?_23619175)_(23625422_?)del
|
|
|
NC_000016.9:g.(?_23625315)_(23625422_?)dup
|
|
|
NC_000016.9:g.(?_23632677)_(23637724_?)dup
|
|
|
NC_000016.9:g.(?_23637547)_(23637728_?)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.(?_61808457)_(61808767_?)del
|
|
|
NC_000017.11:g.(?_61847091)_(61847230_?)del
|
|
|
NC_000017.11:g.(?_61861441)_(61861545_?)del
|
|
|
NC_000022.10:g.(?_29091105)_(29108015_?)dup
|
|
|
NC_000022.10:g.(?_29095816)_(29095935_?)dup
|
|
|
NC_000022.10:g.(?_29095816)_(29099564_?)del
|
|
|
NC_000022.10:g.(?_29099483)_(29099564_?)dup
|
|
|
NC_000022.10:g.(?_29099483)_(29115483_?)dup
|
|
|
NC_000022.10:g.(?_29099493)_(29099554_?)dup
|
|
|
NC_000022.10:g.(?_29105984)_(29115483_?)dup
|
|
|
NC_000022.10:g.(?_29105988)_(29106053_?)del
|
|
|
NC_000022.10:g.(?_29105988)_(29108011_?)dup
|
|
|
NC_000022.10:g.(?_29120157)_(29121086_?)del
|
|
|
NC_000022.10:g.(?_29120955)_(29121365_?)dup
|
|
|
NC_000022.11:g.(?_28687743)_(28687986_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28687996_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28689221_?)del
|
|
|
NC_000022.11:g.(?_28689125)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28689129)_(28696993_?)del
|
|
|
NC_000022.11:g.(?_28699838)_(28703566_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28710069_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28712027_?)dup
|
|
|
NC_000022.11:g.(?_28709996)_(28725377_?)dup
|
|
|
NC_000022.11:g.(?_28719385)_(28725377_?)dup
|
|
|
NM_000465.4(BARD1):c.1306_1314+7del
|
rs1694934695
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
NM_000465.4(BARD1):c.1396-13A>G
|
|
|
NM_000465.4(BARD1):c.1396-1G>A
|
rs2106077292
|
|
NM_000465.4(BARD1):c.1396-1G>C
|
|
|
NM_000465.4(BARD1):c.1565_1568+298del
|
rs2106075317
|
|
NM_000465.4(BARD1):c.1568+1G>A
|
rs2106076135
|
|
NM_000465.4(BARD1):c.1568+1G>T
|
|
|
NM_000465.4(BARD1):c.1569-1G>A
|
rs1574756672
|
|
NM_000465.4(BARD1):c.1569-2A>C
|
rs1693509336
|
|
NM_000465.4(BARD1):c.1569-2A>G
|
rs1693509336
|
|
NM_000465.4(BARD1):c.158+1G>A
|
|
|
NM_000465.4(BARD1):c.158+1G>T
|
rs1553628351
|
|
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp)
|
rs201708813
|
|
NM_000465.4(BARD1):c.1676_1677+23del
|
rs1553616339
|
|
NM_000465.4(BARD1):c.1677+1G>C
|
rs1060501310
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
NM_000465.4(BARD1):c.1678-1_1678del
|
rs1553615184
|
|
NM_000465.4(BARD1):c.1678-1_1684del
|
|
|
NM_000465.4(BARD1):c.1678-3C>G
|
rs1693089932
|
|
NM_000465.4(BARD1):c.1810+1G>A
|
rs876659894
|
|
NM_000465.4(BARD1):c.1810+2T>G
|
rs1234033325
|
|
NM_000465.4(BARD1):c.1810+3G>T
|
rs1310430913
|
|
NM_000465.4(BARD1):c.1811-1G>A
|
rs879253952
|
|
NM_000465.4(BARD1):c.1811-1G>C
|
rs879253952
|
|
NM_000465.4(BARD1):c.1811-2A>G
|
rs1693044156
|
|
NM_000465.4(BARD1):c.1865_1903+274del
|
rs1693019491
|
|
NM_000465.4(BARD1):c.1903+1G>A
|
rs876660237
|
|
NM_000465.4(BARD1):c.1903+1G>T
|
rs876660237
|
|
NM_000465.4(BARD1):c.1903+2T>C
|
rs1574737047
|
|
NM_000465.4(BARD1):c.1904-1G>A
|
|
|
NM_000465.4(BARD1):c.1904-2A>T
|
rs864622239
|
|
NM_000465.4(BARD1):c.1904-2del
|
rs876659560
|
|
NM_000465.4(BARD1):c.1970del (p.Pro657fs)
|
rs786203739
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
|
NM_000465.4(BARD1):c.2001+1G>A
|
rs768490891
|
|
NM_000465.4(BARD1):c.2001+1G>C
|
rs768490891
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
NM_000465.4(BARD1):c.2003T>A (p.Leu668Ter)
|
rs2105988065
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
NM_000465.4(BARD1):c.2024del (p.Cys675fs)
|
rs2105987971
|
|
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter)
|
rs1692227690
|
|
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs)
|
rs1553612222
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
NM_000465.4(BARD1):c.2058_2061del (p.His686fs)
|
rs2105987749
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
NM_000465.4(BARD1):c.2078dup (p.Leu694fs)
|
rs1553612205
|
|
NM_000465.4(BARD1):c.2099del (p.Gly700fs)
|
rs1553612184
|
|
NM_000465.4(BARD1):c.2099dup (p.Gln701fs)
|
|
|
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter)
|
rs587782348
|
|
NM_000465.4(BARD1):c.2109del (p.Ser704fs)
|
rs2105987421
|
|
NM_000465.4(BARD1):c.2122_2124delinsCC (p.Lys708fs)
|
rs1692217798
|
|
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs)
|
rs1692216921
|
|
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr)
|
rs1064793959
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
NM_000465.4(BARD1):c.2144dup (p.Thr716fs)
|
rs1574703115
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
NM_000465.4(BARD1):c.215+1G>A
|
rs2106145519
|
|
NM_000465.4(BARD1):c.215+2T>A
|
|
|
NM_000465.4(BARD1):c.215+2T>C
|
rs1559441760
|
|
NM_000465.4(BARD1):c.2157_2166del (p.Val720fs)
|
|
|
NM_000465.4(BARD1):c.216-1G>A
|
rs876658905
|
|
NM_000465.4(BARD1):c.216-1G>C
|
|
|
NM_000465.4(BARD1):c.216-2A>G
|
rs2106135562
|
|
NM_000465.4(BARD1):c.2166C>A (p.Tyr722Ter)
|
rs2105987094
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
|
|
NM_000465.4(BARD1):c.2203C>T (p.Gln735Ter)
|
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
|
|
NM_000465.4(BARD1):c.2218G>T (p.Glu740Ter)
|
rs1692204026
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
NM_000465.4(BARD1):c.2235del (p.His746fs)
|
rs2105986664
|
|
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs)
|
rs1574702099
|
|
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter)
|
rs786202118
|
|
NM_000465.4(BARD1):c.2279C>A (p.Ser760Ter)
|
rs730881425
|
|
NM_000465.4(BARD1):c.2286G>A (p.Trp762Ter)
|
|
|
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs)
|
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.363_364+1del
|
rs2106134415
|
|
NM_000465.4(BARD1):c.364+1G>T
|
rs2106134408
|
|
NM_000465.4(BARD1):c.365-1G>T
|
rs1559426428
|
|
NM_000465.4(BARD1):c.365-24_371del
|
rs2106112761
|
|
NM_000465.4(BARD1):c.365-2A>T
|
|
|
NM_000465.4(BARD1):c.365-3315_793del
|
|
|
NM_007194.3(CHEK2):c.320-?_592+?dup273
|
|
|
NM_007194.4(CHEK2):c.1008+1G>A
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+1G>C
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+1G>T
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
NM_007194.4(CHEK2):c.1009-1G>A
|
rs1555914382
|
|
NM_007194.4(CHEK2):c.1009-2A>C
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2A>G
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2A>T
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2_1011del
|
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+1G>C
|
|
|
NM_007194.4(CHEK2):c.1095+1G>T
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+2T>A
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1095+2T>C
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1095+2T>G
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1096-1G>A
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>T
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1_1096delinsCG
|
|
|
NM_007194.4(CHEK2):c.1096-2A>C
|
|
|
NM_007194.4(CHEK2):c.1096-2A>G
|
rs2145807398
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+1G>T
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+2T>C
|
rs1555913631
|
|
NM_007194.4(CHEK2):c.1259+2del
|
rs1555913632
|
|
NM_007194.4(CHEK2):c.1260-24_1263del
|
rs1601720308
|
|
NM_007194.4(CHEK2):c.1375+1G>A
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1G>C
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1G>T
|
|
|
NM_007194.4(CHEK2):c.1375+1_1375+2del
|
rs876660801
|
|
NM_007194.4(CHEK2):c.1375+2T>C
|
rs1483241325
|
|
NM_007194.4(CHEK2):c.1375+2T>G
|
|
|
NM_007194.4(CHEK2):c.1376-1G>A
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-1G>C
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-2A>G
|
rs2145786737
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1G>C
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1G>T
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
NM_007194.4(CHEK2):c.1461+2del
|
rs1601715755
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1462-2del
|
|
|
NM_007194.4(CHEK2):c.1473del (p.Met491fs)
|
|
|
NM_007194.4(CHEK2):c.1488del (p.Asp497fs)
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs)
|
rs2145748708
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs)
|
rs2145748685
|
|
NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)
|
|
|
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)
|
rs886039512
|
|
NM_007194.4(CHEK2):c.1528dup (p.Gln510fs)
|
rs2052240942
|
|
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer)
|
rs2145748275
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
|
|
NM_007194.4(CHEK2):c.1540del (p.Gln514fs)
|
rs2145748046
|
|
NM_007194.4(CHEK2):c.1543-1G>A
|
rs2052190289
|
|
NM_007194.4(CHEK2):c.1543-1G>C
|
rs2052190289
|
|
NM_007194.4(CHEK2):c.1543-2A>C
|
rs1160973224
|
|
NM_007194.4(CHEK2):c.1543-2A>G
|
|
|
NM_007194.4(CHEK2):c.1544del (p.Pro515fs)
|
rs1555911640
|
|
NM_007194.4(CHEK2):c.1546del (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1547del (p.Ser516fs)
|
rs1555911635
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.319+1G>C
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+1G>T
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+2T>C
|
|
|
NM_007194.4(CHEK2):c.319+2T>G
|
rs587782401
|
|
NM_007194.4(CHEK2):c.320-1G>C
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-2A>G
|
rs1336652138
|
|
NM_007194.4(CHEK2):c.320-2del
|
|
|
NM_007194.4(CHEK2):c.444_444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-2A>G
|
rs1569158075
|
|
NM_007194.4(CHEK2):c.445-2A>T
|
|
|
NM_007194.4(CHEK2):c.445-8_446del
|
rs2146062270
|
|
NM_007194.4(CHEK2):c.469_592+808del
|
rs2053903140
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.592+1G>A
|
rs1601822722
|
|
NM_007194.4(CHEK2):c.593-1G>A
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-2A>C
|
|
|
NM_007194.4(CHEK2):c.593-2A>G
|
rs2146007633
|
|
NM_007194.4(CHEK2):c.593-2A>T
|
|
|
NM_007194.4(CHEK2):c.683+1G>A
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>C
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+2T>A
|
rs781021132
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
NM_007194.4(CHEK2):c.683+2T>G
|
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1G>C
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1del
|
rs2145953393
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-2A>T
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-3_684-2del
|
|
|
NM_007194.4(CHEK2):c.684-5_684-2delinsC
|
rs2053419709
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
NM_007194.4(CHEK2):c.792+2T>A
|
rs545982789
|
|
NM_007194.4(CHEK2):c.792+2T>G
|
rs545982789
|
|
NM_007194.4(CHEK2):c.792+2_792+17del
|
|
|
NM_007194.4(CHEK2):c.792_792+1del
|
rs774831804
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+2T>A
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+2T>C
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+2T>G
|
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
NM_007194.4(CHEK2):c.847-1G>T
|
|
|
NM_007194.4(CHEK2):c.847-2A>G
|
rs1601753141
|
|
NM_007194.4(CHEK2):c.847-2A>T
|
|
|
NM_007194.4(CHEK2):c.847-2_857del
|
rs2145878627
|
|
NM_007194.4(CHEK2):c.891_908+3del
|
rs2145876703
|
|
NM_007194.4(CHEK2):c.903_908+26del
|
rs2145876249
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>C
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
NM_007194.4(CHEK2):c.909-1G>A
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-1G>C
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-1G>T
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
NM_024675.3(PALB2):c.1685-?_2748+?dup
|
|
|
NM_024675.3(PALB2):c.2587-?_2748+?del
|
|
|
NM_024675.3(PALB2):c.3114-?_3201+?dup88
|
|
|
NM_024675.3(PALB2):c.3114-?_3350+?del
|
|
|
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro)
|
rs141047069
|
|
NM_024675.4(PALB2):c.108+2T>G
|
|
|
NM_024675.4(PALB2):c.1356_2586+201del
|
|
|
NM_024675.4(PALB2):c.1684+1G>A
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1684+1G>T
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1684+2T>A
|
|
|
NM_024675.4(PALB2):c.1685-2A>G
|
rs754660432
|
|
NM_024675.4(PALB2):c.1685-3_1685-2insCTTATTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGATCTCCTGACCTCGCGATCCGACCACCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGACCAGCC
|
|
|
NM_024675.4(PALB2):c.211+1G>A
|
rs1555462026
|
|
NM_024675.4(PALB2):c.211+1G>T
|
rs1555462026
|
|
NM_024675.4(PALB2):c.211+2T>C
|
rs1967098495
|
|
NM_024675.4(PALB2):c.2514+1G>A
|
rs886039729
|
|
NM_024675.4(PALB2):c.2514+1G>C
|
rs886039729
|
|
NM_024675.4(PALB2):c.2515-1G>A
|
rs587776417
|
|
NM_024675.4(PALB2):c.2515-1G>C
|
rs587776417
|
|
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
|
|
|
NM_024675.4(PALB2):c.2749-1G>A
|
rs1060502804
|
|
NM_024675.4(PALB2):c.2749-1G>C
|
rs1060502804
|
|
NM_024675.4(PALB2):c.2749-1G>T
|
rs1060502804
|
|
NM_024675.4(PALB2):c.2749-2A>C
|
rs1555459747
|
|
NM_024675.4(PALB2):c.2749-2A>G
|
rs1555459747
|
|
NM_024675.4(PALB2):c.2835-1G>A
|
rs515726099
|
|
NM_024675.4(PALB2):c.2996+1G>T
|
rs886039626
|
|
NM_024675.4(PALB2):c.2996+2T>C
|
rs1966797789
|
|
NM_024675.4(PALB2):c.3113+1G>A
|
rs1597079557
|
|
NM_024675.4(PALB2):c.3113+5G>A
|
rs876659463
|
|
NM_024675.4(PALB2):c.3114-1G>A
|
rs886039619
|
|
NM_024675.4(PALB2):c.3114-2A>G
|
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3202-2A>C
|
rs1060499827
|
|
NM_024675.4(PALB2):c.3202-2A>G
|
rs1060499827
|
|
NM_024675.4(PALB2):c.3350+2C>G
|
rs1555458171
|
|
NM_024675.4(PALB2):c.3351-2A>G
|
rs1060502764
|
|
NM_024675.4(PALB2):c.48+1G>A
|
rs515726118
|
|
NM_024675.4(PALB2):c.48+1G>T
|
rs515726118
|
|
NM_032043.2(BRIP1):c.2493-?_2575+?dup
|
|
|
NM_032043.2(BRIP1):c.505_506insAlu
|
|
|
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
|
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|
Single allele
|
|
|