NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)
|
rs104894103
|
0.00044
|
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)
|
rs137852761
|
0.00007
|
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)
|
rs587781442
|
0.00007
|
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)
|
rs984874083
|
0.00004
|
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)
|
rs587781384
|
0.00004
|
NM_001195248.2(APTX):c.596del (p.Arg199fs)
|
rs770007531
|
0.00002
|
NM_005591.4(MRE11):c.1867+2T>C
|
rs745677716
|
0.00002
|
NM_005591.4(MRE11):c.659+1G>A
|
rs759130031
|
0.00002
|
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu)
|
rs121908131
|
0.00001
|
NM_001195248.2(APTX):c.689dup (p.Glu232fs)
|
rs587776593
|
0.00001
|
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter)
|
rs372411821
|
0.00001
|
NM_005591.4(MRE11):c.1225+2T>C
|
rs145058858
|
0.00001
|
NM_005591.4(MRE11):c.1414G>T (p.Glu472Ter)
|
rs1376550081
|
0.00001
|
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)
|
rs780001540
|
0.00001
|
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter)
|
rs1440482403
|
0.00001
|
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter)
|
rs951805101
|
0.00001
|
NM_005591.4(MRE11):c.1771C>T (p.Gln591Ter)
|
rs1215450873
|
0.00001
|
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)
|
rs137852759
|
0.00001
|
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)
|
rs137852760
|
0.00001
|
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile)
|
rs369958038
|
0.00001
|
GRCh37/hg19 11q21(chr11:94153291-94170401)
|
|
|
NC_000009.12:g.(?_32973498)_(33001604_?)del
|
|
|
NC_000011.10:g.(?_94470461)_(94492811_?)del
|
|
|
NC_000011.10:g.94456339dup
|
|
|
NC_000011.9:g.(?_94153291)_(94225967_?)del
|
|
|
NC_000011.9:g.(?_94168988)_(94170411_?)del
|
|
|
NC_000011.9:g.(?_94180375)_(94180614_?)del
|
|
|
NM_001195248.2(APTX):c.484-1G>T
|
rs1563963464
|
|
NM_001195248.2(APTX):c.544-1G>C
|
rs2118688818
|
|
NM_001195248.2(APTX):c.587dup (p.Ala198fs)
|
rs2118686800
|
|
NM_001195248.2(APTX):c.602A>G (p.His201Arg)
|
rs121908133
|
|
NM_001195248.2(APTX):c.638del (p.Leu213fs)
|
|
|
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro)
|
rs267606665
|
|
NM_001195248.2(APTX):c.697A>T (p.Lys233Ter)
|
rs1114167423
|
|
NM_001195248.2(APTX):c.776del (p.Val259fs)
|
rs1563945076
|
|
NM_001195248.2(APTX):c.788T>G (p.Val263Gly)
|
rs121908132
|
|
NM_001195248.2(APTX):c.841del (p.Ser281fs)
|
rs587776594
|
|
NM_001195248.2(APTX):c.875-1G>A
|
rs1587330671
|
|
NM_001195248.2(APTX):c.875-2A>G
|
rs904293109
|
|
NM_005591.4(MRE11):c.-4_13A[5]TGAGTACTGCAGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGAGTACTGCAG[1] (p.Asp5delinsGlyArgSerArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer)
|
|
|
NM_005591.4(MRE11):c.1005_1006del (p.Phe335fs)
|
|
|
NM_005591.4(MRE11):c.1018del (p.Ile340fs)
|
rs2135024880
|
|
NM_005591.4(MRE11):c.1047_1048del (p.Glu350fs)
|
rs1591688367
|
|
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)
|
rs371077728
|
|
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)
|
rs1946499901
|
|
NM_005591.4(MRE11):c.1112_1127del (p.Gly371fs)
|
rs1169667763
|
|
NM_005591.4(MRE11):c.1112dup (p.Gly372fs)
|
rs1591681273
|
|
NM_005591.4(MRE11):c.1127del (p.Phe376fs)
|
|
|
NM_005591.4(MRE11):c.1143del (p.Phe381fs)
|
rs863224508
|
|
NM_005591.4(MRE11):c.1222dup (p.Thr408fs)
|
rs774440500
|
|
NM_005591.4(MRE11):c.1250_1251del (p.Leu417fs)
|
|
|
NM_005591.4(MRE11):c.1280dup (p.Leu427fs)
|
rs2134999988
|
|
NM_005591.4(MRE11):c.1300A>T (p.Lys434Ter)
|
|
|
NM_005591.4(MRE11):c.1308C>G (p.Tyr436Ter)
|
|
|
NM_005591.4(MRE11):c.1326+1del
|
rs1946397259
|
|
NM_005591.4(MRE11):c.1378G>T (p.Glu460Ter)
|
|
|
NM_005591.4(MRE11):c.140C>T (p.Ala47Val)
|
rs730880378
|
|
NM_005591.4(MRE11):c.1419del (p.Leu473_Val474insTer)
|
|
|
NM_005591.4(MRE11):c.142del (p.Gln48fs)
|
|
|
NM_005591.4(MRE11):c.1441del (p.Thr481fs)
|
rs747832587
|
|
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys)
|
rs137852762
|
|
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs)
|
rs1245161888
|
|
NM_005591.4(MRE11):c.1456_1462dup (p.Arg488fs)
|
|
|
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)
|
|
|
NM_005591.4(MRE11):c.1477del (p.Leu493fs)
|
|
|
NM_005591.4(MRE11):c.1522del (p.Arg508fs)
|
|
|
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)
|
|
|
NM_005591.4(MRE11):c.1552dup (p.Glu518fs)
|
rs2134969994
|
|
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)
|
rs876660186
|
|
NM_005591.4(MRE11):c.163_167del (p.Ile55fs)
|
|
|
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)
|
rs774277300
|
|
NM_005591.4(MRE11):c.1885C>T (p.Gln629Ter)
|
rs1157436927
|
|
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)
|
rs2134840569
|
|
NM_005591.4(MRE11):c.1920T>A (p.Tyr640Ter)
|
|
|
NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter)
|
rs2134831001
|
|
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)
|
rs779269083
|
|
NM_005591.4(MRE11):c.295_298del (p.Val99fs)
|
rs1555017184
|
|
NM_005591.4(MRE11):c.403-2A>T
|
rs2135086294
|
|
NM_005591.4(MRE11):c.422dup (p.Leu141fs)
|
rs1565233979
|
|
NM_005591.4(MRE11):c.489_490del (p.Asp163_Ile164insTer)
|
|
|
NM_005591.4(MRE11):c.490_496dup (p.Pro166delinsHisTer)
|
|
|
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)
|
rs786202253
|
|
NM_005591.4(MRE11):c.552del (p.Pro185fs)
|
rs1946857788
|
|
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)
|
rs1157413766
|
|
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)
|
rs137852763
|
|
NM_005591.4(MRE11):c.664A>T (p.Lys222Ter)
|
rs371455048
|
|
NM_005591.4(MRE11):c.694C>T (p.Gln232Ter)
|
|
|
NM_005591.4(MRE11):c.739dup (p.His247fs)
|
rs786203931
|
|
NM_005591.4(MRE11):c.768del (p.Asn256fs)
|
|
|
NM_005591.4(MRE11):c.76_77del (p.Met26fs)
|
|
|
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
|
|
|
NM_005591.4(MRE11):c.806C>G (p.Ser269Ter)
|
rs776912688
|
|
NM_005591.4(MRE11):c.820_821del (p.Leu274fs)
|
rs1565228898
|
|
NM_005591.4(MRE11):c.939del (p.Val313_Leu314insTer)
|
|
|
NM_005591.4(MRE11):c.982_983insCCTGTATGGCTTG (p.Val328fs)
|
|
|