NM_005732.4(RAD50):c.687del (p.Ser229fs)
|
rs760146707
|
0.00042
|
NM_005732.4(RAD50):c.3G>A (p.Met1Ile)
|
rs377260382
|
0.00004
|
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)
|
rs121912628
|
0.00003
|
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter)
|
rs786203485
|
0.00003
|
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter)
|
rs368980595
|
0.00002
|
NM_005732.4(RAD50):c.1052-2A>C
|
rs876660957
|
0.00001
|
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)
|
rs1247689593
|
0.00001
|
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)
|
rs373428259
|
0.00001
|
NM_005732.4(RAD50):c.129+1G>T
|
rs1339714611
|
0.00001
|
NM_005732.4(RAD50):c.129+2T>A
|
rs748086984
|
0.00001
|
NM_005732.4(RAD50):c.130-1G>T
|
rs876658784
|
0.00001
|
NM_005732.4(RAD50):c.1793+1G>C
|
rs1356107538
|
0.00001
|
NM_005732.4(RAD50):c.1794-1G>A
|
rs587781742
|
0.00001
|
NM_005732.4(RAD50):c.193dup (p.Thr65fs)
|
rs1750079483
|
0.00001
|
NM_005732.4(RAD50):c.213+1G>T
|
rs765484171
|
0.00001
|
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs)
|
rs768522804
|
0.00001
|
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter)
|
rs1554099776
|
0.00001
|
NM_005732.4(RAD50):c.3164+1G>T
|
rs786203805
|
0.00001
|
NM_005732.4(RAD50):c.323A>G (p.Lys108Arg)
|
rs542347773
|
0.00001
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
NM_005732.4(RAD50):c.676C>T (p.Gln226Ter)
|
rs377429225
|
0.00001
|
NM_005732.4(RAD50):c.756+2T>C
|
rs764122619
|
0.00001
|
NM_005732.4(RAD50):c.94dup (p.Thr32fs)
|
rs587781625
|
0.00001
|
GRCh37/hg19 5q31.1(chr5:131922768-131924818)x1
|
|
|
NC_000005.10:g.(?_132575771)_(132580072_?)del
|
|
|
NC_000005.10:g.(?_132579307)_(132605009_?)dup
|
|
|
NC_000005.10:g.(?_132603910)_(132618304_?)dup
|
|
|
NC_000005.9:g.(?_131892615)_(131980314_?)del
|
|
|
NC_000005.9:g.(?_131973767)_(131973921_?)dup
|
|
|
NM_005732.3(RAD50):c.3476-?_3618+?dup
|
|
|
NM_005732.3:c.2291_2292insALU
|
|
|
NM_005732.4(RAD50):c.1051+1G>A
|
rs2149840720
|
|
NM_005732.4(RAD50):c.1052-1G>A
|
rs1750640480
|
|
NM_005732.4(RAD50):c.1052-1G>T
|
rs1750640480
|
|
NM_005732.4(RAD50):c.1052dup
|
|
|
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter)
|
rs104895046
|
|
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)
|
rs1554098250
|
|
NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs)
|
rs786203655
|
|
NM_005732.4(RAD50):c.1238_1241del (p.Gln413fs)
|
rs1750646869
|
|
NM_005732.4(RAD50):c.1245+1G>A
|
rs1561639636
|
|
NM_005732.4(RAD50):c.1262_1265del (p.Lys421fs)
|
|
|
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs)
|
rs587781327
|
|
NM_005732.4(RAD50):c.129+1G>A
|
|
|
NM_005732.4(RAD50):c.129+1G>C
|
|
|
NM_005732.4(RAD50):c.129+2T>C
|
|
|
NM_005732.4(RAD50):c.1295_1296del (p.Ile432fs)
|
|
|
NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter)
|
|
|
NM_005732.4(RAD50):c.130-1G>A
|
rs876658784
|
|
NM_005732.4(RAD50):c.130-1G>C
|
|
|
NM_005732.4(RAD50):c.130-2A>G
|
rs1561628206
|
|
NM_005732.4(RAD50):c.1360C>T (p.Gln454Ter)
|
rs758641567
|
|
NM_005732.4(RAD50):c.1381A>T (p.Lys461Ter)
|
rs1580993516
|
|
NM_005732.4(RAD50):c.139G>T (p.Glu47Ter)
|
rs1750077980
|
|
NM_005732.4(RAD50):c.1405G>T (p.Gly469Ter)
|
rs1561640129
|
|
NM_005732.4(RAD50):c.1435C>T (p.Gln479Ter)
|
|
|
NM_005732.4(RAD50):c.1452+1G>A
|
rs1750667558
|
|
NM_005732.4(RAD50):c.1452+2T>C
|
rs2149841600
|
|
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs)
|
rs764968413
|
|
NM_005732.4(RAD50):c.1635dup (p.Ala546fs)
|
rs1750698269
|
|
NM_005732.4(RAD50):c.1636-1G>A
|
rs1750705894
|
|
NM_005732.4(RAD50):c.1636-2A>G
|
rs1554098466
|
|
NM_005732.4(RAD50):c.1722dup (p.Gln575fs)
|
rs587782543
|
|
NM_005732.4(RAD50):c.1774del (p.Asp592fs)
|
rs757261714
|
|
NM_005732.4(RAD50):c.1793+1del
|
|
|
NM_005732.4(RAD50):c.1793+4A>G
|
|
|
NM_005732.4(RAD50):c.1794-1G>T
|
rs587781742
|
|
NM_005732.4(RAD50):c.183del (p.Gly63fs)
|
rs1554096791
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.1876G>T (p.Glu626Ter)
|
|
|
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter)
|
rs749466673
|
|
NM_005732.4(RAD50):c.1969+1G>A
|
rs587782078
|
|
NM_005732.4(RAD50):c.1969+1G>C
|
rs587782078
|
|
NM_005732.4(RAD50):c.1970-1G>A
|
rs1554098662
|
|
NM_005732.4(RAD50):c.1970-2A>G
|
rs876660728
|
|
NM_005732.4(RAD50):c.1A>G (p.Met1Val)
|
rs876658212
|
|
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter)
|
rs773761143
|
|
NM_005732.4(RAD50):c.2046del (p.Val683fs)
|
|
|
NM_005732.4(RAD50):c.2050dup (p.Cys684fs)
|
|
|
NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer)
|
rs1750779319
|
|
NM_005732.4(RAD50):c.2099_2100del (p.Asp700fs)
|
rs2149844146
|
|
NM_005732.4(RAD50):c.214-1G>A
|
|
|
NM_005732.4(RAD50):c.214-2A>T
|
rs1750384287
|
|
NM_005732.4(RAD50):c.2156_2207+3332del
|
|
|
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)
|
rs786201789
|
|
NM_005732.4(RAD50):c.2207+1G>A
|
|
|
NM_005732.4(RAD50):c.2314del (p.Glu772fs)
|
rs1554099106
|
|
NM_005732.4(RAD50):c.2367_2375del (p.Asp791_Thr793del)
|
|
|
NM_005732.4(RAD50):c.2397+1G>A
|
rs1750926104
|
|
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter)
|
rs1060501936
|
|
NM_005732.4(RAD50):c.2524+1G>A
|
rs1581001575
|
|
NM_005732.4(RAD50):c.2524+1G>T
|
rs1581001575
|
|
NM_005732.4(RAD50):c.2524+1_2524+9del
|
|
|
NM_005732.4(RAD50):c.2525-1G>A
|
rs1015686770
|
|
NM_005732.4(RAD50):c.2525-1G>C
|
rs1015686770
|
|
NM_005732.4(RAD50):c.2525-1G>T
|
rs1015686770
|
|
NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC
|
rs1580985027
|
|
NM_005732.4(RAD50):c.2718+1G>T
|
rs556830991
|
|
NM_005732.4(RAD50):c.2718+1_2718+5del
|
rs876659158
|
|
NM_005732.4(RAD50):c.2718G>T (p.Lys906Asn)
|
|
|
NM_005732.4(RAD50):c.2719-1G>T
|
|
|
NM_005732.4(RAD50):c.2725A>T (p.Lys909Ter)
|
|
|
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)
|
rs587781930
|
|
NM_005732.4(RAD50):c.2801dup (p.Asn934fs)
|
rs748536322
|
|
NM_005732.4(RAD50):c.2829+2T>C
|
|
|
NM_005732.4(RAD50):c.2829+5G>C
|
rs1446519890
|
|
NM_005732.4(RAD50):c.2830-1G>A
|
|
|
NM_005732.4(RAD50):c.2830-2A>C
|
rs1554099356
|
|
NM_005732.4(RAD50):c.2884G>T (p.Glu962Ter)
|
rs1561647410
|
|
NM_005732.4(RAD50):c.2922+1G>A
|
rs1581004749
|
|
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter)
|
rs1581004859
|
|
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter)
|
rs876660364
|
|
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)
|
rs1060501941
|
|
NM_005732.4(RAD50):c.3036+1G>A
|
rs1561647611
|
|
NM_005732.4(RAD50):c.3037-2A>G
|
rs1554099774
|
|
NM_005732.4(RAD50):c.304_307del (p.Cys102fs)
|
|
|
NM_005732.4(RAD50):c.3058del (p.Asp1020fs)
|
|
|
NM_005732.4(RAD50):c.3068_3072del (p.Thr1023fs)
|
|
|
NM_005732.4(RAD50):c.3160_3164+8del
|
rs1751171297
|
|
NM_005732.4(RAD50):c.3164+1G>A
|
rs786203805
|
|
NM_005732.4(RAD50):c.3164+1G>C
|
rs786203805
|
|
NM_005732.4(RAD50):c.3164+2T>C
|
|
|
NM_005732.4(RAD50):c.3165-2A>G
|
|
|
NM_005732.4(RAD50):c.3209del (p.Asn1070fs)
|
rs786202187
|
|
NM_005732.4(RAD50):c.3353del (p.Asn1118fs)
|
rs1554099888
|
|
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter)
|
rs775069541
|
|
NM_005732.4(RAD50):c.3389+1G>A
|
rs762648843
|
|
NM_005732.4(RAD50):c.3389+1G>C
|
rs762648843
|
|
NM_005732.4(RAD50):c.366-2A>G
|
rs1554097755
|
|
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)
|
rs1561635887
|
|
NM_005732.4(RAD50):c.475C>T (p.Gln159Ter)
|
|
|
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs)
|
rs876659255
|
|
NM_005732.4(RAD50):c.541dup (p.Ser181fs)
|
rs786201531
|
|
NM_005732.4(RAD50):c.551+1G>C
|
|
|
NM_005732.4(RAD50):c.551+2T>A
|
rs1580987375
|
|
NM_005732.4(RAD50):c.551+2T>C
|
rs1580987375
|
|
NM_005732.4(RAD50):c.552-1G>T
|
|
|
NM_005732.4(RAD50):c.552-2A>C
|
rs1060501970
|
|
NM_005732.4(RAD50):c.561dup (p.Ala188fs)
|
rs876659005
|
|
NM_005732.4(RAD50):c.731_732del (p.Ser243_Tyr244insTer)
|
rs1580987798
|
|
NM_005732.4(RAD50):c.756+2T>G
|
rs764122619
|
|
NM_005732.4(RAD50):c.756+2del
|
|
|
NM_005732.4(RAD50):c.756_756+2delinsTG
|
rs1554097840
|
|
NM_005732.4(RAD50):c.886-1G>C
|
rs1580992079
|
|
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA
|
rs1554098191
|
|
NM_005732.4(RAD50):c.999_1002del (p.Asn333fs)
|
rs1580992265
|
|