NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.2471T>C (p.Leu824Ser)
|
rs397507631
|
0.00001
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
rs397507634
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)
|
rs80358631
|
0.00001
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
NM_000059.4(BRCA2):c.4039_4043del (p.Val1347fs)
|
rs1370021869
|
0.00001
|
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)
|
rs80359436
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)
|
rs387907575
|
0.00001
|
NM_000059.4(BRCA2):c.632-3C>G
|
rs568027879
|
0.00001
|
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)
|
rs876661261
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro)
|
rs80359023
|
0.00001
|
NM_000059.4(BRCA2):c.7970A>C (p.Lys2657Thr)
|
rs1555286874
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)
|
rs80359045
|
0.00001
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)
|
rs397508009
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
NC_000013.10:g.(32921034_32928997)_(32945238_32950806)dup
|
|
|
NC_000013.10:g.(32921034_32928997)_(32954283_32968825)dup
|
|
|
NC_000013.10:g.(32937671_32944538)_(32944695_32945092)del
|
|
|
NC_000013.10:g.(32937671_32944538)_(32945238_32950806)dup
|
|
|
NC_000013.10:g.(32944695_32945092)_(32945238_32950806)dup
|
|
|
NC_000013.10:g.(?_32893194)_(32903649_?)dup
|
|
|
NC_000013.10:g.(?_32908767)_(32914690_?)del
|
|
|
NC_000013.10:g.(?_32918675)_(32921053_?)dup
|
|
|
NC_000013.10:g.(?_32928978)_(32945257_?)dup
|
|
|
NC_000013.10:g.(?_32928978)_(32954302_?)dup
|
|
|
NC_000013.10:g.(?_32928992)_(32954288_?)dup
|
|
|
NC_000013.10:g.(?_32930545)_(32944714_?)dup
|
|
|
NC_000013.10:g.(?_32930559)_(32937676_?)dup
|
|
|
NC_000013.10:g.(?_32936534)_(32936850_?)del
|
|
|
NC_000013.10:g.(?_32936534)_(32945257_?)dup
|
|
|
NC_000013.10:g.(?_32944519)_(32944714_?)del
|
|
|
NC_000013.10:g.(?_32944519)_(32945257_?)dup
|
|
|
NC_000013.10:g.(?_32944533)_(32945243_?)dup
|
|
|
NC_000013.10:g.(?_32945087)_(32945243_?)dup
|
|
|
NC_000013.10:g.32953528_32953529insAlu
|
|
|
NC_000013.11:g.(32357930_32362522)_(32376792_32379316)del
|
|
|
NC_000013.11:g.(?_32354841)_(32357949_?)del
|
|
|
NC_000013.11:g.(?_32354855)_(32357935_?)del
|
|
|
NC_000013.11:g.(?_32356408)_(32357949_?)dup
|
|
|
NC_000013.11:g.(?_32370936)_(32371120_?)dup
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs)
|
rs1566232310
|
|
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)
|
|
|
NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)
|
rs879255300
|
|
NM_000059.3(BRCA2):c.8332_8487del
|
|
|
NM_000059.3(BRCA2):c.9064delinsGG (p.Arg3022fs)
|
rs1566253262
|
|
NM_000059.3(BRCA2):c.9117+1_9117+2delinsTC
|
rs1566253399
|
|
NM_000059.3:c.2829_2830insALU
|
|
|
NM_000059.3:c.3390_3391insALU
|
|
|
NM_000059.3:c.3834_3835insALU
|
|
|
NM_000059.3:c.4993_4994insALU
|
|
|
NM_000059.3:c.5990_5991insL1
|
|
|
NM_000059.3:c.7649_7650insALU
|
|
|
NM_000059.3:c.8814_8815insALU
|
|
|
NM_000059.3:c.8933_8934insALU
|
|
|
NM_000059.3:c.9327_9328insALU
|
|
|
NM_000059.3:c.9451_9452insALU
|
|
|
NM_000059.4(BRCA2):c.-39-1G>A
|
rs1060499566
|
|
NM_000059.4(BRCA2):c.-39-1G>C
|
rs1060499566
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
NM_000059.4(BRCA2):c.-39-1delinsAA
|
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
NM_000059.4(BRCA2):c.1002_1003dup (p.Glu335fs)
|
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
NM_000059.4(BRCA2):c.101_102insT (p.Glu34fs)
|
|
|
NM_000059.4(BRCA2):c.1045A>T (p.Lys349Ter)
|
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
NM_000059.4(BRCA2):c.1062dup (p.Val355fs)
|
rs1555281716
|
|
NM_000059.4(BRCA2):c.1072del (p.Val358fs)
|
rs2137467384
|
|
NM_000059.4(BRCA2):c.1085_1086insCA (p.Thr363fs)
|
|
|
NM_000059.4(BRCA2):c.1125del (p.Phe376fs)
|
|
|
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter)
|
rs786201237
|
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
rs760815829
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
NM_000059.4(BRCA2):c.1208dup (p.Asn404fs)
|
rs2137468789
|
|
NM_000059.4(BRCA2):c.1211dup (p.Asn404fs)
|
rs1555281775
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser)
|
rs80358415
|
|
NM_000059.4(BRCA2):c.1233del (p.Leu413fs)
|
rs2072407210
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)
|
rs886040353
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.1329del (p.Asn444fs)
|
rs869320781
|
|
NM_000059.4(BRCA2):c.1337dup (p.Leu446fs)
|
|
|
NM_000059.4(BRCA2):c.1368_1369dup (p.Lys457fs)
|
rs397507583
|
|
NM_000059.4(BRCA2):c.1379del (p.Asn460fs)
|
rs1064793945
|
|
NM_000059.4(BRCA2):c.137del (p.Pro46fs)
|
rs2072285588
|
|
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)
|
rs1555281911
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1478del (p.Pro493fs)
|
rs2072414250
|
|
NM_000059.4(BRCA2):c.1481del (p.Val494fs)
|
|
|
NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)
|
rs1566223700
|
|
NM_000059.4(BRCA2):c.1508del (p.Lys503fs)
|
rs886038066
|
|
NM_000059.4(BRCA2):c.1561dup (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1571del (p.Met524fs)
|
|
|
NM_000059.4(BRCA2):c.1593del (p.Glu532fs)
|
rs397507272
|
|
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs)
|
rs80359293
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter)
|
rs1555281999
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
NM_000059.4(BRCA2):c.1712del (p.Ser571fs)
|
rs2137474153
|
|
NM_000059.4(BRCA2):c.1732G>C (p.Gly578Arg)
|
rs1555282036
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter)
|
rs1555282048
|
|
NM_000059.4(BRCA2):c.1774del (p.Tyr592fs)
|
rs1566224293
|
|
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)
|
rs886040389
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.17_18del (p.Lys6fs)
|
rs80359298
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
NM_000059.4(BRCA2):c.1841_1842dup (p.Asn615fs)
|
rs80359312
|
|
NM_000059.4(BRCA2):c.1846del (p.Cys616fs)
|
rs1566224496
|
|
NM_000059.4(BRCA2):c.1849del (p.Ser617fs)
|
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs)
|
rs80359314
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)
|
rs431825288
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1909+2T>A
|
rs876658577
|
|
NM_000059.4(BRCA2):c.1910-1G>A
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.1910-1G>T
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.1910-1_1914del
|
rs1593895760
|
|
NM_000059.4(BRCA2):c.1910-2A>C
|
|
|
NM_000059.4(BRCA2):c.1910-2A>T
|
rs1228762581
|
|
NM_000059.4(BRCA2):c.1921del (p.Ser641fs)
|
|
|
NM_000059.4(BRCA2):c.192_193insATTTT (p.Pro65fs)
|
|
|
NM_000059.4(BRCA2):c.1943del (p.Ser648fs)
|
rs876658660
|
|
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter)
|
rs879255439
|
|
NM_000059.4(BRCA2):c.2033_2036del (p.Asn678fs)
|
|
|
NM_000059.4(BRCA2):c.2039_2043del (p.Thr680fs)
|
|
|
NM_000059.4(BRCA2):c.2050C>T (p.Gln684Ter)
|
|
|
NM_000059.4(BRCA2):c.2106del (p.Thr703fs)
|
rs2072450488
|
|
NM_000059.4(BRCA2):c.2167_2168del (p.Ser723fs)
|
rs1593896252
|
|
NM_000059.4(BRCA2):c.2167_2169delinsCT (p.Ser723fs)
|
rs1566226235
|
|
NM_000059.4(BRCA2):c.2167dup (p.Ser723fs)
|
rs2072451752
|
|
NM_000059.4(BRCA2):c.2169_2170insT (p.Lys724Ter)
|
rs1593896259
|
|
NM_000059.4(BRCA2):c.2176del (p.Val726fs)
|
rs1555282499
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
NM_000059.4(BRCA2):c.2272del (p.Ser758fs)
|
rs886040420
|
|
NM_000059.4(BRCA2):c.2278_2279del (p.Leu760fs)
|
rs886038071
|
|
NM_000059.4(BRCA2):c.2309_2313del (p.Ile770fs)
|
rs1593896605
|
|
NM_000059.4(BRCA2):c.2361_2362dup (p.Gly788fs)
|
|
|
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)
|
rs398122746
|
|
NM_000059.4(BRCA2):c.2372_2381del (p.Ser791fs)
|
rs2137485789
|
|
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)
|
rs730881602
|
|
NM_000059.4(BRCA2):c.2390del (p.Lys797fs)
|
|
|
NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs)
|
rs1555282658
|
|
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His)
|
rs1060502466
|
|
NM_000059.4(BRCA2):c.2507del (p.Pro836fs)
|
|
|
NM_000059.4(BRCA2):c.2514del (p.Lys838fs)
|
rs886040433
|
|
NM_000059.4(BRCA2):c.2515dup (p.Tyr839fs)
|
|
|
NM_000059.4(BRCA2):c.2534_2540delinsTTTAT (p.Pro845fs)
|
|
|
NM_000059.4(BRCA2):c.2543del (p.Lys848fs)
|
rs2072459783
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter)
|
rs1060502414
|
|
NM_000059.4(BRCA2):c.2592del (p.Glu865fs)
|
rs2137487979
|
|
NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter)
|
rs587782014
|
|
NM_000059.4(BRCA2):c.2623G>C (p.Val875Leu)
|
rs587782582
|
|
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)
|
rs876658928
|
|
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs)
|
rs276174825
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs)
|
rs2072462600
|
|
NM_000059.4(BRCA2):c.2676_2677del (p.Phe892fs)
|
rs2137488835
|
|
NM_000059.4(BRCA2):c.2687_2688insGA (p.Asn896fs)
|
rs1555282795
|
|
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)
|
rs979372317
|
|
NM_000059.4(BRCA2):c.2704dup (p.Ala902fs)
|
rs2072463288
|
|
NM_000059.4(BRCA2):c.2722G>T (p.Glu908Ter)
|
rs2137489223
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)
|
rs786204752
|
|
NM_000059.4(BRCA2):c.2748del (p.Cys916fs)
|
rs886040443
|
|
NM_000059.4(BRCA2):c.2760del (p.Ile921fs)
|
rs80359346
|
|
NM_000059.4(BRCA2):c.2786del (p.Leu929fs)
|
rs80359347
|
|
NM_000059.4(BRCA2):c.2801del (p.Gly934fs)
|
rs2137490061
|
|
NM_000059.4(BRCA2):c.2860G>T (p.Glu954Ter)
|
rs1555282911
|
|
NM_000059.4(BRCA2):c.2870del (p.Asn957fs)
|
rs397507645
|
|
NM_000059.4(BRCA2):c.2870dup (p.Asn957fs)
|
|
|
NM_000059.4(BRCA2):c.2872del (p.Ser958fs)
|
|
|
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter)
|
rs80358538
|
|
NM_000059.4(BRCA2):c.2886_3114del (p.Ile963fs)
|
rs2072467292
|
|
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
|
rs2072467220
|
|
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)
|
rs397507296
|
|
NM_000059.4(BRCA2):c.2973del (p.Asn991fs)
|
|
|
NM_000059.4(BRCA2):c.2980del (p.Ala994fs)
|
rs2137491867
|
|
NM_000059.4(BRCA2):c.2989_2990del (p.Leu997fs)
|
rs1555282990
|
|
NM_000059.4(BRCA2):c.2T>A (p.Met1Lys)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)
|
rs397507300
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
NM_000059.4(BRCA2):c.3061del (p.Glu1021fs)
|
rs2072471318
|
|
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)
|
rs876658555
|
|
NM_000059.4(BRCA2):c.3070_3071del (p.Asn1023_Ile1024insTer)
|
|
|
NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)
|
rs1057517566
|
|
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)
|
rs2072472083
|
|
NM_000059.4(BRCA2):c.308dup (p.Leu103fs)
|
rs1057517572
|
|
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer)
|
rs1555283051
|
|
NM_000059.4(BRCA2):c.316+1G>A
|
rs397507303
|
|
NM_000059.4(BRCA2):c.316+1G>T
|
rs397507303
|
|
NM_000059.4(BRCA2):c.316+1del
|
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.316+5_316+8del
|
|
|
NM_000059.4(BRCA2):c.316+797_476-24del
|
|
|
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)
|
rs80359372
|
|
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)
|
rs786201916
|
|
NM_000059.4(BRCA2):c.317-2A>G
|
rs1477341630
|
|
NM_000059.4(BRCA2):c.3174dup (p.Leu1059fs)
|
rs1555283079
|
|
NM_000059.4(BRCA2):c.3187_3188del (p.Gln1063fs)
|
rs2137494105
|
|
NM_000059.4(BRCA2):c.3189del (p.Gln1063fs)
|
|
|
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter)
|
rs864622609
|
|
NM_000059.4(BRCA2):c.3201del (p.Val1068fs)
|
rs864622672
|
|
NM_000059.4(BRCA2):c.3204_3207del (p.Ser1069fs)
|
rs1555283099
|
|
NM_000059.4(BRCA2):c.3211_3212dup (p.Leu1072fs)
|
rs2137494347
|
|
NM_000059.4(BRCA2):c.3262_3263del (p.Pro1088fs)
|
rs80359379
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)
|
rs397507305
|
|
NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter)
|
rs1555283173
|
|
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)
|
rs398122763
|
|
NM_000059.4(BRCA2):c.3339del (p.Glu1113fs)
|
rs2137495606
|
|
NM_000059.4(BRCA2):c.334_335dup (p.Ser112fs)
|
|
|
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs)
|
|
|
NM_000059.4(BRCA2):c.3376G>T (p.Glu1126Ter)
|
rs1555283206
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs)
|
rs1555283219
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
NM_000059.4(BRCA2):c.3440del (p.Asn1147fs)
|
|
|
NM_000059.4(BRCA2):c.3451_3454del (p.Thr1150_Ile1151insTer)
|
rs2137496671
|
|
NM_000059.4(BRCA2):c.3468dup (p.Glu1157Ter)
|
rs2137496891
|
|
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter)
|
rs431825307
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile)
|
rs1555283267
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)
|
rs786203359
|
|
NM_000059.4(BRCA2):c.3645_3646dup (p.Phe1216fs)
|
rs397507679
|
|
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)
|
rs864622134
|
|
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs)
|
rs869312759
|
|
NM_000059.4(BRCA2):c.3700_3701del (p.Leu1234fs)
|
|
|
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)
|
rs1555283366
|
|
NM_000059.4(BRCA2):c.3719dup (p.Phe1241fs)
|
rs2137499319
|
|
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer)
|
rs1555283373
|
|
NM_000059.4(BRCA2):c.3723del (p.Phe1241fs)
|
rs886040491
|
|
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)
|
rs1555283381
|
|
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)
|
rs886040494
|
|
NM_000059.4(BRCA2):c.3748del (p.Glu1250fs)
|
|
|
NM_000059.4(BRCA2):c.3767del (p.His1256fs)
|
rs1555283393
|
|
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)
|
rs1555280859
|
|
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs)
|
rs886038094
|
|
NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)
|
rs1555283397
|
|
NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs)
|
rs397507686
|
|
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)
|
rs1555283442
|
|
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)
|
rs879255309
|
|
NM_000059.4(BRCA2):c.3897_3901del (p.Glu1299fs)
|
|
|
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs)
|
rs1555283478
|
|
NM_000059.4(BRCA2):c.3935del (p.Asn1312fs)
|
|
|
NM_000059.4(BRCA2):c.3935dup (p.Asn1312fs)
|
rs1566229411
|
|
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)
|
rs1566229421
|
|
NM_000059.4(BRCA2):c.3956del (p.Asn1319fs)
|
rs2137501511
|
|
NM_000059.4(BRCA2):c.3968_3971del (p.Lys1323fs)
|
rs886040505
|
|
NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter)
|
rs1131692119
|
|
NM_000059.4(BRCA2):c.3G>T (p.Met1Ile)
|
rs80358650
|
|
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter)
|
rs747070579
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)
|
rs1566218217
|
|
NM_000059.4(BRCA2):c.4057del (p.Glu1353fs)
|
rs2072494571
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
NM_000059.4(BRCA2):c.4068_4086dup (p.Asn1363delinsAlaIleTyrTer)
|
|
|
NM_000059.4(BRCA2):c.4076del (p.Thr1359fs)
|
rs80359424
|
|
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)
|
rs876658329
|
|
NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs)
|
rs730881606
|
|
NM_000059.4(BRCA2):c.4117_4127delinsT (p.Phe1372_Met1373insTer)
|
|
|
NM_000059.4(BRCA2):c.4117dup (p.Met1373fs)
|
rs1555283571
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)
|
rs80359430
|
|
NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter)
|
rs1555280869
|
|
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)
|
rs886038101
|
|
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
NM_000059.4(BRCA2):c.425+1G>A
|
rs587782590
|
|
NM_000059.4(BRCA2):c.425+2T>C
|
rs876661045
|
|
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs)
|
rs1566229958
|
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
rs397507713
|
|
NM_000059.4(BRCA2):c.426-1G>A
|
rs1060502485
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
NM_000059.4(BRCA2):c.4270dup (p.Ser1424fs)
|
rs1555283672
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs)
|
rs1566230041
|
|
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs)
|
rs1064794168
|
|
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)
|
rs876659758
|
|
NM_000059.4(BRCA2):c.4322_4323del (p.Glu1441fs)
|
rs1593902043
|
|
NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs)
|
rs1566230089
|
|
NM_000059.4(BRCA2):c.4342_4343del (p.Asn1448fs)
|
|
|
NM_000059.4(BRCA2):c.4350dup (p.Asp1451Ter)
|
|
|
NM_000059.4(BRCA2):c.4361_4368delinsTCAGAT (p.Pro1454fs)
|
|
|
NM_000059.4(BRCA2):c.4376del (p.Asn1459fs)
|
rs1555283752
|
|
NM_000059.4(BRCA2):c.4376dup (p.Asn1459fs)
|
rs1555283752
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
NM_000059.4(BRCA2):c.4417_4418del (p.Asn1473fs)
|
rs1593902312
|
|
NM_000059.4(BRCA2):c.4454_4455del (p.Ile1485fs)
|
rs2137506518
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
NM_000059.4(BRCA2):c.4468del (p.Ile1490fs)
|
|
|
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs)
|
rs397507334
|
|
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)
|
rs1057517636
|
|
NM_000059.4(BRCA2):c.4477_4478del (p.Glu1493fs)
|
rs786203492
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
NM_000059.4(BRCA2):c.452dup (p.Thr152fs)
|
rs2072343917
|
|
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4548del (p.Glu1518fs)
|
rs2072507154
|
|
NM_000059.4(BRCA2):c.4554_4563delinsCCTACTCTG (p.Glu1518fs)
|
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)
|
rs1555283865
|
|
NM_000059.4(BRCA2):c.4593_4594del (p.Lys1531fs)
|
rs2072508654
|
|
NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs)
|
rs869320793
|
|
NM_000059.4(BRCA2):c.4624_4625insCG (p.Val1542fs)
|
rs1555283876
|
|
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer)
|
rs2137508514
|
|
NM_000059.4(BRCA2):c.4641del (p.Asp1547fs)
|
rs1593902988
|
|
NM_000059.4(BRCA2):c.4647del (p.Glu1550fs)
|
rs1593902999
|
|
NM_000059.4(BRCA2):c.4688G>A (p.Trp1563Ter)
|
|
|
NM_000059.4(BRCA2):c.469A>T (p.Lys157Ter)
|
rs1593886887
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter)
|
rs878853585
|
|
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)
|
rs397507740
|
|
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter)
|
rs2137509604
|
|
NM_000059.4(BRCA2):c.4738dup (p.Cys1580fs)
|
|
|
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu)
|
rs80358701
|
|
NM_000059.4(BRCA2):c.4749del (p.Ile1583fs)
|
rs1555283928
|
|
NM_000059.4(BRCA2):c.475+1del
|
|
|
NM_000059.4(BRCA2):c.475+2T>C
|
rs1555280966
|
|
NM_000059.4(BRCA2):c.475+3A>G
|
rs81002795
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
NM_000059.4(BRCA2):c.476-1G>A
|
rs397507340
|
|
NM_000059.4(BRCA2):c.476-1G>T
|
|
|
NM_000059.4(BRCA2):c.476-4_476-1delinsT
|
rs587782880
|
|
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter)
|
rs2072513173
|
|
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)
|
rs1566231194
|
|
NM_000059.4(BRCA2):c.4858_4861del (p.Leu1620fs)
|
rs1593903595
|
|
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)
|
rs397507748
|
|
NM_000059.4(BRCA2):c.4904del (p.Phe1634_Leu1635insTer)
|
rs80359471
|
|
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)
|
rs1566231364
|
|
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs)
|
rs431825323
|
|
NM_000059.4(BRCA2):c.4961_4971del (p.Cys1654fs)
|
rs2137512109
|
|
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs)
|
rs886040557
|
|
NM_000059.4(BRCA2):c.4979del (p.Pro1660fs)
|
|
|
NM_000059.4(BRCA2):c.4981_4982insGAAT (p.Tyr1661Ter)
|
|
|
NM_000059.4(BRCA2):c.4983_4986del (p.Pro1660_Tyr1661insTer)
|
rs1593904052
|
|
NM_000059.4(BRCA2):c.4997del (p.Asn1666fs)
|
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
NM_000059.4(BRCA2):c.5049_5050insT (p.Thr1684fs)
|
rs1593904263
|
|
NM_000059.4(BRCA2):c.5049_5053del (p.Gln1683fs)
|
rs2137513400
|
|
NM_000059.4(BRCA2):c.5061del (p.Glu1688fs)
|
rs2137513583
|
|
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter)
|
rs938190132
|
|
NM_000059.4(BRCA2):c.5087del (p.Gly1696fs)
|
|
|
NM_000059.4(BRCA2):c.5103_5106del (p.Pro1702fs)
|
|
|
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter)
|
rs1064795652
|
|
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer)
|
rs879254123
|
|
NM_000059.4(BRCA2):c.5142T>G (p.Tyr1714Ter)
|
rs2072521352
|
|
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)
|
rs80358740
|
|
NM_000059.4(BRCA2):c.516+1G>T
|
rs397507762
|
|
NM_000059.4(BRCA2):c.516+4A>G
|
rs2137450725
|
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn)
|
rs80359790
|
|
NM_000059.4(BRCA2):c.517-1G>C
|
|
|
NM_000059.4(BRCA2):c.517-29_519del
|
rs2137451744
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.517-2A>T
|
rs81002858
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.518_631+462del
|
rs2072348853
|
|
NM_000059.4(BRCA2):c.518_631+462delinsAAAGAAATTTTATTTCTTT
|
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs)
|
rs483353082
|
|
NM_000059.4(BRCA2):c.5206_5207del (p.Gln1736fs)
|
|
|
NM_000059.4(BRCA2):c.5215del (p.Tyr1739fs)
|
rs398122796
|
|
NM_000059.4(BRCA2):c.5216_5217insAATA (p.Tyr1739Ter)
|
rs1555284111
|
|
NM_000059.4(BRCA2):c.5219T>G (p.Leu1740Ter)
|
rs1593904834
|
|
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter)
|
rs1555284120
|
|
NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)
|
rs1566232050
|
|
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)
|
rs80359502
|
|
NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)
|
rs1555284139
|
|
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter)
|
rs886038122
|
|
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer)
|
|
|
NM_000059.4(BRCA2):c.5343_5344insA (p.Gln1782fs)
|
rs398122530
|
|
NM_000059.4(BRCA2):c.534del (p.Lys178fs)
|
rs1191198388
|
|
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)
|
rs587781849
|
|
NM_000059.4(BRCA2):c.5386_5393del (p.Asp1796fs)
|
|
|
NM_000059.4(BRCA2):c.5487_5488del (p.Leu1829fs)
|
rs1057517595
|
|
NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter)
|
rs786203853
|
|
NM_000059.4(BRCA2):c.5511dup (p.Glu1838Ter)
|
rs2137518141
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs)
|
rs886040598
|
|
NM_000059.4(BRCA2):c.5613del (p.Ser1871fs)
|
rs2072533506
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)
|
rs397507357
|
|
NM_000059.4(BRCA2):c.5633del (p.Asn1878fs)
|
|
|
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)
|
rs886040602
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
NM_000059.4(BRCA2):c.568_575del (p.Pro190fs)
|
rs886040605
|
|
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter)
|
rs587782901
|
|
NM_000059.4(BRCA2):c.572A>T (p.Asp191Val)
|
rs397507798
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)
|
rs886040610
|
|
NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs)
|
rs1555284402
|
|
NM_000059.4(BRCA2):c.5818G>T (p.Glu1940Ter)
|
rs1566233278
|
|
NM_000059.4(BRCA2):c.5844_5856del (p.Cys1948fs)
|
rs2072539817
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter)
|
rs375064902
|
|
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs)
|
rs786202700
|
|
NM_000059.4(BRCA2):c.5880_5887del (p.Cys1960fs)
|
rs1593906797
|
|
NM_000059.4(BRCA2):c.5881del (p.Ser1961fs)
|
rs2137521963
|
|
NM_000059.4(BRCA2):c.5890A>T (p.Lys1964Ter)
|
rs1555284445
|
|
NM_000059.4(BRCA2):c.5908_5909del (p.Ser1970fs)
|
|
|
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)
|
rs1555284465
|
|
NM_000059.4(BRCA2):c.595_598del (p.Ala199fs)
|
rs886040622
|
|
NM_000059.4(BRCA2):c.5963dup (p.Ser1989fs)
|
rs2072542766
|
|
NM_000059.4(BRCA2):c.5991_5995del (p.Arg1997fs)
|
rs1555284490
|
|
NM_000059.4(BRCA2):c.6014del (p.Asp2005fs)
|
rs2137523279
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6039del (p.Val2014fs)
|
rs876660637
|
|
NM_000059.4(BRCA2):c.6045del (p.Leu2015fs)
|
rs2072544996
|
|
NM_000059.4(BRCA2):c.607_610dup (p.Leu204fs)
|
|
|
NM_000059.4(BRCA2):c.6089dup (p.Asn2030fs)
|
rs1555284538
|
|
NM_000059.4(BRCA2):c.6100delinsTA (p.Arg2034Ter)
|
rs1566233919
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)
|
rs1555284559
|
|
NM_000059.4(BRCA2):c.6135_6139del (p.Phe2045fs)
|
|
|
NM_000059.4(BRCA2):c.6149dup (p.Asn2051fs)
|
rs1555284566
|
|
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)
|
rs1566234047
|
|
NM_000059.4(BRCA2):c.6222_6223del (p.His2074fs)
|
|
|
NM_000059.4(BRCA2):c.6226del (p.Val2076fs)
|
rs2072549559
|
|
NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter)
|
rs1555284605
|
|
NM_000059.4(BRCA2):c.6259del (p.Arg2087fs)
|
|
|
NM_000059.4(BRCA2):c.6290_6291insTA (p.Arg2099fs)
|
rs1566234270
|
|
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter)
|
rs80358870
|
|
NM_000059.4(BRCA2):c.631+1G>A
|
rs81002897
|
|
NM_000059.4(BRCA2):c.631+1G>C
|
rs81002897
|
|
NM_000059.4(BRCA2):c.631+2T>A
|
rs81002899
|
|
NM_000059.4(BRCA2):c.631+2T>C
|
rs81002899
|
|
NM_000059.4(BRCA2):c.631+3A>G
|
rs397507840
|
|
NM_000059.4(BRCA2):c.631+4A>G
|
rs397507841
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-1G>A
|
rs81002820
|
|
NM_000059.4(BRCA2):c.632-1dup
|
rs1566220586
|
|
NM_000059.4(BRCA2):c.6341del (p.Pro2114fs)
|
|
|
NM_000059.4(BRCA2):c.6367_6370dup (p.Lys2124fs)
|
rs786203430
|
|
NM_000059.4(BRCA2):c.6373_6374delinsG (p.Thr2125fs)
|
rs1555284655
|
|
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs)
|
rs886038145
|
|
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs)
|
rs431825342
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs)
|
rs2072554847
|
|
NM_000059.4(BRCA2):c.6417_6418insT (p.Gly2140fs)
|
|
|
NM_000059.4(BRCA2):c.6421_6424dup (p.Ser2142fs)
|
rs1566234560
|
|
NM_000059.4(BRCA2):c.6434del (p.Asn2145fs)
|
rs80359587
|
|
NM_000059.4(BRCA2):c.6437_6440dup (p.His2147fs)
|
rs397507855
|
|
NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs)
|
rs876660421
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6474dup (p.Gln2159fs)
|
rs1555284710
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
NM_000059.4(BRCA2):c.6514_6515del (p.Ser2172fs)
|
rs886040662
|
|
NM_000059.4(BRCA2):c.6516del (p.Val2174fs)
|
rs2072558268
|
|
NM_000059.4(BRCA2):c.6528_6535dup
|
rs1555284738
|
|
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs)
|
rs80359601
|
|
NM_000059.4(BRCA2):c.6547_6550del (p.Glu2183fs)
|
rs2072559281
|
|
NM_000059.4(BRCA2):c.6567_6574del (p.Val2190fs)
|
|
|
NM_000059.4(BRCA2):c.6592G>T (p.Glu2198Ter)
|
rs1555284766
|
|
NM_000059.4(BRCA2):c.6626_6627dup (p.Glu2210Ter)
|
rs80359610
|
|
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)
|
rs80359614
|
|
NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter)
|
|
|
NM_000059.4(BRCA2):c.6663C>G (p.Asn2221Lys)
|
|
|
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs)
|
rs1555284790
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
NM_000059.4(BRCA2):c.67+2T>G
|
rs81002885
|
|
NM_000059.4(BRCA2):c.67+2del
|
rs863224439
|
|
NM_000059.4(BRCA2):c.67+3A>C
|
|
|
NM_000059.4(BRCA2):c.67+3A>G
|
rs1593880835
|
|
NM_000059.4(BRCA2):c.67+57_316+123delinsCAC
|
|
|
NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs)
|
rs1555284811
|
|
NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs)
|
rs1566235284
|
|
NM_000059.4(BRCA2):c.6750_6751insACACA (p.His2251fs)
|
rs2137530365
|
|
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)
|
rs80359624
|
|
NM_000059.4(BRCA2):c.67G>A (p.Asp23Asn)
|
rs397507881
|
|
NM_000059.4(BRCA2):c.67G>T (p.Asp23Tyr)
|
rs397507881
|
|
NM_000059.4(BRCA2):c.68-2A>G
|
rs769152395
|
|
NM_000059.4(BRCA2):c.68-352_317-1637del
|
|
|
NM_000059.4(BRCA2):c.681+1G>A
|
rs398122565
|
|
NM_000059.4(BRCA2):c.681+1del
|
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
NM_000059.4(BRCA2):c.681+4A>G
|
rs397507884
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.6819delinsGT (p.Gly2274fs)
|
rs2137530913
|
|
NM_000059.4(BRCA2):c.682-1G>C
|
rs81002831
|
|
NM_000059.4(BRCA2):c.682-2A>C
|
rs878853287
|
|
NM_000059.4(BRCA2):c.682-3C>G
|
|
|
NM_000059.4(BRCA2):c.6824_6827dup (p.Leu2277fs)
|
rs1555284862
|
|
NM_000059.4(BRCA2):c.683del (p.Asn228fs)
|
rs1566221288
|
|
NM_000059.4(BRCA2):c.6841+1G>A
|
rs773863936
|
|
NM_000059.4(BRCA2):c.6841+1del
|
rs397507887
|
|
NM_000059.4(BRCA2):c.6841+2T>G
|
rs1593909960
|
|
NM_000059.4(BRCA2):c.6841G>T (p.Gly2281Ter)
|
|
|
NM_000059.4(BRCA2):c.6842-2A>G
|
rs1555285132
|
|
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs)
|
rs761744738
|
|
NM_000059.4(BRCA2):c.6864dup (p.Leu2290fs)
|
|
|
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs)
|
rs2137536911
|
|
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter)
|
rs1555285146
|
|
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs)
|
rs886040932
|
|
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)
|
rs1566236904
|
|
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)
|
|
|
NM_000059.4(BRCA2):c.6938-1G>A
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6938-1G>C
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
NM_000059.4(BRCA2):c.6938-5_6956del
|
|
|
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)
|
rs80359629
|
|
NM_000059.4(BRCA2):c.6976del (p.Ser2326fs)
|
rs886040679
|
|
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer)
|
rs879255306
|
|
NM_000059.4(BRCA2):c.6986_6990del (p.Pro2329fs)
|
rs1064795172
|
|
NM_000059.4(BRCA2):c.6999dup (p.Pro2334fs)
|
rs1566237861
|
|
NM_000059.4(BRCA2):c.7007+1G>A
|
rs397507891
|
|
NM_000059.4(BRCA2):c.7007+1G>T
|
rs397507891
|
|
NM_000059.4(BRCA2):c.7007+2T>G
|
rs886040937
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-1G>A
|
rs786204280
|
|
NM_000059.4(BRCA2):c.7008-1_7435+372del
|
rs2137555065
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)
|
rs886040685
|
|
NM_000059.4(BRCA2):c.707del (p.His236fs)
|
rs2072385245
|
|
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)
|
rs786202600
|
|
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)
|
rs80359638
|
|
NM_000059.4(BRCA2):c.7147del (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7171G>T (p.Glu2391Ter)
|
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)
|
rs1555281459
|
|
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer)
|
rs80359637
|
|
NM_000059.4(BRCA2):c.722del (p.Lys241fs)
|
rs2137461470
|
|
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs)
|
rs1555286052
|
|
NM_000059.4(BRCA2):c.7237_7240del (p.Lys2413fs)
|
rs1566241033
|
|
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)
|
rs80358951
|
|
NM_000059.4(BRCA2):c.7270dup (p.Arg2424fs)
|
rs2072681595
|
|
NM_000059.4(BRCA2):c.7274del (p.Asn2425fs)
|
rs1566241084
|
|
NM_000059.4(BRCA2):c.7283T>A (p.Leu2428Ter)
|
rs886040696
|
|
NM_000059.4(BRCA2):c.7288G>T (p.Glu2430Ter)
|
|
|
NM_000059.4(BRCA2):c.728_729del (p.Asn243fs)
|
rs1593890204
|
|
NM_000059.4(BRCA2):c.7292dup (p.Asn2431fs)
|
rs2137557686
|
|
NM_000059.4(BRCA2):c.7297C>T (p.Gln2433Ter)
|
|
|
NM_000059.4(BRCA2):c.7300_7301del (p.Lys2434fs)
|
|
|
NM_000059.4(BRCA2):c.7317del (p.His2440fs)
|
rs2072682479
|
|
NM_000059.4(BRCA2):c.7340del (p.Asn2447fs)
|
rs786204281
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
NM_000059.4(BRCA2):c.738del (p.Phe246fs)
|
rs1566221413
|
|
NM_000059.4(BRCA2):c.7403dup (p.Thr2469fs)
|
rs1555286105
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)
|
rs1555286120
|
|
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)
|
rs1566241336
|
|
NM_000059.4(BRCA2):c.7435+2T>A
|
rs1434072252
|
|
NM_000059.4(BRCA2):c.7435+2T>C
|
rs1434072252
|
|
NM_000059.4(BRCA2):c.7436-1G>A
|
|
|
NM_000059.4(BRCA2):c.7436-1G>T
|
rs886040939
|
|
NM_000059.4(BRCA2):c.7436-2_7437del
|
rs876659229
|
|
NM_000059.4(BRCA2):c.7439T>A (p.Leu2480Ter)
|
|
|
NM_000059.4(BRCA2):c.7471del (p.Gln2491fs)
|
rs886038170
|
|
NM_000059.4(BRCA2):c.7506_7507insTCTT (p.Val2503fs)
|
rs2137562363
|
|
NM_000059.4(BRCA2):c.7510_7617+184del
|
|
|
NM_000059.4(BRCA2):c.7525_7526delinsGACT (p.Ser2509fs)
|
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
|
rs80358979
|
|
NM_000059.4(BRCA2):c.7531dup (p.Tyr2511fs)
|
|
|
NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)
|
rs1566242125
|
|
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)
|
rs1555286291
|
|
NM_000059.4(BRCA2):c.7618-10T>G
|
rs864622573
|
|
NM_000059.4(BRCA2):c.7618-187G>T
|
|
|
NM_000059.4(BRCA2):c.7618-516_7653del
|
|
|
NM_000059.4(BRCA2):c.7622_7629dup (p.Gly2544fs)
|
rs2137566082
|
|
NM_000059.4(BRCA2):c.7628_7629del (p.Tyr2543fs)
|
rs1566242661
|
|
NM_000059.4(BRCA2):c.764dup (p.Asn255fs)
|
rs1555281474
|
|
NM_000059.4(BRCA2):c.7654del (p.Ile2552fs)
|
rs879255463
|
|
NM_000059.4(BRCA2):c.7659del (p.Asn2553fs)
|
|
|
NM_000059.4(BRCA2):c.765_769del (p.Asn255fs)
|
rs2072386817
|
|
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs)
|
rs80359670
|
|
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro)
|
rs55647716
|
|
NM_000059.4(BRCA2):c.7684T>G (p.Phe2562Val)
|
rs80358995
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
NM_000059.4(BRCA2):c.7701T>G (p.Tyr2567Ter)
|
rs1555286423
|
|
NM_000059.4(BRCA2):c.7704del (p.Phe2568fs)
|
|
|
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs)
|
rs2137567005
|
|
NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs)
|
rs80359676
|
|
NM_000059.4(BRCA2):c.7732G>T (p.Gly2578Ter)
|
rs1593920920
|
|
NM_000059.4(BRCA2):c.7745_7751dup (p.Gly2584_Gly2585insTer)
|
rs1593920945
|
|
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg)
|
rs80359002
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7786G>C (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu)
|
rs1064795140
|
|
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)
|
rs80359682
|
|
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys)
|
rs41293509
|
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
rs780715340
|
|
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)
|
rs786202344
|
|
NM_000059.4(BRCA2):c.7804_7805+9del
|
|
|
NM_000059.4(BRCA2):c.7805+2T>A
|
rs886040941
|
|
NM_000059.4(BRCA2):c.7805+2_7805+3del
|
rs2072712311
|
|
NM_000059.4(BRCA2):c.7806-1G>C
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-2A>C
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7806-2A>T
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7807G>C (p.Ala2603Pro)
|
rs730881560
|
|
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro)
|
rs80359008
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)
|
rs80359010
|
|
NM_000059.4(BRCA2):c.7843_7844del (p.Ile2615fs)
|
rs886040867
|
|
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)
|
rs397507940
|
|
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe)
|
rs1174303167
|
|
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)
|
rs80359685
|
|
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg)
|
rs1593923998
|
|
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr)
|
rs1566244783
|
|
NM_000059.4(BRCA2):c.7868A>C (p.His2623Pro)
|
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)
|
rs863224468
|
|
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)
|
rs864622552
|
|
NM_000059.4(BRCA2):c.7876T>A (p.Trp2626Arg)
|
rs1060502459
|
|
NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg)
|
rs1060502459
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)
|
rs876658736
|
|
NM_000059.4(BRCA2):c.7888A>C (p.Lys2630Gln)
|
rs1380792392
|
|
NM_000059.4(BRCA2):c.7892T>C (p.Leu2631Pro)
|
rs2072746856
|
|
NM_000059.4(BRCA2):c.7903G>T (p.Glu2635Ter)
|
|
|
NM_000059.4(BRCA2):c.7923dup (p.Phe2642fs)
|
rs2137577492
|
|
NM_000059.4(BRCA2):c.793+1G>C
|
rs81002846
|
|
NM_000059.4(BRCA2):c.793+1G>T
|
rs81002846
|
|
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)
|
rs2137577594
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)
|
rs80359021
|
|
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)
|
rs863224828
|
|
NM_000059.4(BRCA2):c.7955T>G (p.Val2652Gly)
|
rs1555286868
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7958_7959dup (p.Leu2654fs)
|
rs1566244965
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln)
|
rs886037817
|
|
NM_000059.4(BRCA2):c.7971_7976+4del
|
|
|
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)
|
rs80359026
|
|
NM_000059.4(BRCA2):c.7976+1G>A
|
rs81002873
|
|
NM_000059.4(BRCA2):c.7976+1G>T
|
rs81002873
|
|
NM_000059.4(BRCA2):c.7976+5G>A
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7976+5G>T
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7977-1G>A
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-1G>T
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-2A>G
|
rs276174899
|
|
NM_000059.4(BRCA2):c.7977-3_7977-1delinsAA
|
rs483353073
|
|
NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG
|
rs1135401921
|
|
NM_000059.4(BRCA2):c.7977-4_7977-3del
|
rs876659992
|
|
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)
|
rs80359029
|
|
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)
|
rs730881614
|
|
NM_000059.4(BRCA2):c.7985dup (p.Glu2663fs)
|
rs1555286933
|
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
rs80359030
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
rs786202796
|
|
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp)
|
rs80359035
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr)
|
rs80359040
|
|
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)
|
rs28897746
|
|
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe)
|
rs80359044
|
|
NM_000059.4(BRCA2):c.8059_8064del (p.Val2687_Leu2688del)
|
rs1593924996
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
NM_000059.4(BRCA2):c.8074del (p.Asp2692fs)
|
|
|
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs)
|
rs2137580749
|
|
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)
|
rs863224469
|
|
NM_000059.4(BRCA2):c.8145del (p.Val2716fs)
|
rs1135401923
|
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
rs80359061
|
|
NM_000059.4(BRCA2):c.8164A>G (p.Thr2722Ala)
|
rs1555287019
|
|
NM_000059.4(BRCA2):c.8164dup (p.Thr2722fs)
|
rs2137581286
|
|
NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
NM_000059.4(BRCA2):c.8170G>A (p.Gly2724Arg)
|
|
|
NM_000059.4(BRCA2):c.8170G>T (p.Gly2724Trp)
|
rs1057521184
|
|
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)
|
rs80359063
|
|
NM_000059.4(BRCA2):c.8174G>T (p.Trp2725Leu)
|
rs730881581
|
|
NM_000059.4(BRCA2):c.8176T>A (p.Tyr2726Asn)
|
rs2137581441
|
|
NM_000059.4(BRCA2):c.8181del (p.Val2728fs)
|
|
|
NM_000059.4(BRCA2):c.8188G>A (p.Ala2730Thr)
|
rs80359066
|
|
NM_000059.4(BRCA2):c.8218_8222del (p.Leu2740fs)
|
rs1566245731
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
rs80359071
|
|
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser)
|
rs1555287065
|
|
NM_000059.4(BRCA2):c.8265_8275del (p.Ala2756fs)
|
|
|
NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del)
|
rs1593882341
|
|
NM_000059.4(BRCA2):c.831del (p.Asn277fs)
|
rs1555281604
|
|
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs)
|
rs276174904
|
|
NM_000059.4(BRCA2):c.8327T>G (p.Leu2776Ter)
|
rs397507977
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+1G>T
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1G>T
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-2A>C
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8332-3384A>T
|
|
|
NM_000059.4(BRCA2):c.8332-3C>G
|
rs587782093
|
|
NM_000059.4(BRCA2):c.8337del (p.Ala2780fs)
|
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
NM_000059.4(BRCA2):c.8344_8351delinsCA (p.Ser2782_Arg2784delinsGln)
|
rs1064795286
|
|
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)
|
rs80359076
|
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
rs786202034
|
|
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg)
|
rs80359079
|
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8373del (p.Lys2791fs)
|
|
|
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer)
|
rs587781689
|
|
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)
|
rs80359094
|
|
NM_000059.4(BRCA2):c.8463del (p.Ile2822fs)
|
rs397507988
|
|
NM_000059.4(BRCA2):c.8465_8472del (p.Ile2822fs)
|
rs1555287661
|
|
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)
|
rs886040778
|
|
NM_000059.4(BRCA2):c.8471G>C (p.Arg2824Thr)
|
rs431825366
|
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
rs776353983
|
|
NM_000059.4(BRCA2):c.8486A>C (p.Gln2829Pro)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8486_8487+7delinsCCTATG
|
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-1G>T
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-1_8489delinsTCCATTACA
|
rs886038183
|
|
NM_000059.4(BRCA2):c.8488-1_8496delinsCT
|
rs1555287731
|
|
NM_000059.4(BRCA2):c.8488-2A>C
|
rs773272765
|
|
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)
|
rs80359712
|
|
NM_000059.4(BRCA2):c.8507_8508dup (p.Gly2837fs)
|
rs2137599900
|
|
NM_000059.4(BRCA2):c.8533dup (p.Arg2845fs)
|
rs397507990
|
|
NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)
|
rs786201333
|
|
NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter)
|
rs587782860
|
|
NM_000059.4(BRCA2):c.8632+1G>A
|
rs397507997
|
|
NM_000059.4(BRCA2):c.8632+1G>T
|
rs397507997
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
NM_000059.4(BRCA2):c.8633-1G>C
|
|
|
NM_000059.4(BRCA2):c.8633-1G>T
|
|
|
NM_000059.4(BRCA2):c.8633-24_8634del
|
rs886040945
|
|
NM_000059.4(BRCA2):c.8633-27_8633-9del
|
|
|
NM_000059.4(BRCA2):c.8633-2A>G
|
rs81002886
|
|
NM_000059.4(BRCA2):c.8633-33_8726delinsCAGACCCAGCTT
|
|
|
NM_000059.4(BRCA2):c.866del (p.Asn289fs)
|
rs2072398949
|
|
NM_000059.4(BRCA2):c.8706del (p.Glu2903fs)
|
rs2137613060
|
|
NM_000059.4(BRCA2):c.8713dup (p.Tyr2905fs)
|
rs1555288169
|
|
NM_000059.4(BRCA2):c.8715T>A (p.Tyr2905Ter)
|
rs45555831
|
|
NM_000059.4(BRCA2):c.8724del (p.Lys2909fs)
|
rs1555288172
|
|
NM_000059.4(BRCA2):c.8754+1G>C
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+1del
|
rs1593935041
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754+5G>A
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8754+5G>C
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)
|
rs80359803
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-2A>C
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755-2A>G
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755-2A>T
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755-3_8755-2delinsGG
|
|
|
NM_000059.4(BRCA2):c.8755-6_8755-2del
|
|
|
NM_000059.4(BRCA2):c.8755-9T>A
|
rs397507413
|
|
NM_000059.4(BRCA2):c.8755_8773dup (p.Gln2925delinsArgLeuPheGlnTer)
|
rs1593936493
|
|
NM_000059.4(BRCA2):c.8792del (p.Asn2931fs)
|
rs2072898210
|
|
NM_000059.4(BRCA2):c.8808del (p.Asn2937fs)
|
rs1566252592
|
|
NM_000059.4(BRCA2):c.8851G>T (p.Ala2951Ser)
|
rs11571769
|
|
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)
|
rs1555288386
|
|
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)
|
rs879255298
|
|
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs)
|
rs1593936840
|
|
NM_000059.4(BRCA2):c.8917del (p.Arg2973fs)
|
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTAG (p.Thr298_Val300delinsIleLeuArg)
|
rs1135401937
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter)
|
rs2072903033
|
|
NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs)
|
rs1593936980
|
|
NM_000059.4(BRCA2):c.8948A>T (p.Asp2983Val)
|
rs2137620740
|
|
NM_000059.4(BRCA2):c.8953+1G>A
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8953+1_8953+2insGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACATGGGGAGGCCGAGGCGGGTGGATCGGGTGGACACGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGATTCAGG
|
|
|
NM_000059.4(BRCA2):c.8953+1del
|
rs730881617
|
|
NM_000059.4(BRCA2):c.8953+2T>C
|
rs886040947
|
|
NM_000059.4(BRCA2):c.8954-15T>G
|
rs886040948
|
|
NM_000059.4(BRCA2):c.8954-1G>A
|
rs1555288435
|
|
NM_000059.4(BRCA2):c.8954-2A>C
|
rs1135401928
|
|
NM_000059.4(BRCA2):c.8954-2A>G
|
rs1135401928
|
|
NM_000059.4(BRCA2):c.8954-2A>T
|
rs1135401928
|
|
NM_000059.4(BRCA2):c.8954-2_8959del
|
rs1566252995
|
|
NM_000059.4(BRCA2):c.8954-3C>G
|
rs81002844
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
NM_000059.4(BRCA2):c.8982_8985dup (p.Leu2996fs)
|
rs1555288449
|
|
NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs)
|
rs2137622356
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly)
|
rs1555288459
|
|
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu)
|
rs1566253139
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs)
|
rs2137622994
|
|
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)
|
rs431825373
|
|
NM_000059.4(BRCA2):c.9057A>G (p.Lys3019=)
|
rs1799956
|
|
NM_000059.4(BRCA2):c.9064del (p.Arg3022fs)
|
|
|
NM_000059.4(BRCA2):c.906dup (p.Ser303fs)
|
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9113dup (p.Pro3039fs)
|
rs2072911261
|
|
NM_000059.4(BRCA2):c.9116_9117+4del
|
|
|
NM_000059.4(BRCA2):c.9117+1del
|
rs869320801
|
|
NM_000059.4(BRCA2):c.9117+3A>G
|
rs1555288517
|
|
NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=)
|
rs28897756
|
|
NM_000059.4(BRCA2):c.9117_9117+11del
|
rs1593937758
|
|
NM_000059.4(BRCA2):c.9118-2A>T
|
rs81002862
|
|
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)
|
rs80359170
|
|
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu)
|
rs80359171
|
|
NM_000059.4(BRCA2):c.9191del (p.Asp3064fs)
|
rs2137625213
|
|
NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg)
|
rs80359182
|
|
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly)
|
rs80359182
|
|
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs)
|
rs1555288557
|
|
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)
|
rs876658262
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9221dup (p.Ile3075fs)
|
|
|
NM_000059.4(BRCA2):c.9222_9223insTT (p.Ile3075fs)
|
rs2137625568
|
|
NM_000059.4(BRCA2):c.9226G>A (p.Gly3076Arg)
|
rs1566253644
|
|
NM_000059.4(BRCA2):c.9226G>C (p.Gly3076Arg)
|
rs1566253644
|
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9252_9253del (p.Lys3084fs)
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9254_9256+11del
|
rs1555288584
|
|
NM_000059.4(BRCA2):c.9254del (p.Thr3085fs)
|
rs1555288587
|
|
NM_000059.4(BRCA2):c.9256+1G>A
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9256+1G>C
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9256+2T>A
|
|
|
NM_000059.4(BRCA2):c.9256+2T>C
|
rs1555288591
|
|
NM_000059.4(BRCA2):c.9256+2T>G
|
rs1555288591
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
NM_000059.4(BRCA2):c.9257-1G>A
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-1G>T
|
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
NM_000059.4(BRCA2):c.9258_9262del (p.Leu3087fs)
|
|
|
NM_000059.4(BRCA2):c.9270_9288del (p.Tyr3092fs)
|
|
|
NM_000059.4(BRCA2):c.9281C>G (p.Ser3094Ter)
|
rs786204283
|
|
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)
|
rs80359198
|
|
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)
|
rs778782209
|
|
NM_000059.4(BRCA2):c.9289dup (p.Cys3097fs)
|
rs2137652215
|
|
NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser)
|
|
|
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)
|
rs1405341259
|
|
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)
|
rs886040831
|
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9372C>A (p.Asn3124Lys)
|
rs1420566833
|
|
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)
|
rs1555289566
|
|
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His)
|
rs80359209
|
|
NM_000059.4(BRCA2):c.937del (p.Ser313fs)
|
rs2137466022
|
|
NM_000059.4(BRCA2):c.93G>T (p.Trp31Cys)
|
rs80359214
|
|
NM_000059.4(BRCA2):c.93_97del (p.Trp31_Glu33delinsTer)
|
rs2138703748
|
|
NM_000059.4(BRCA2):c.9414_9417dup (p.Ala3140fs)
|
|
|
NM_000059.4(BRCA2):c.945_947del (p.Cys315_Arg316delinsTer)
|
|
|
NM_000059.4(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter)
|
rs1555289602
|
|
NM_000059.4(BRCA2):c.9477del (p.Phe3159fs)
|
|
|
NM_000059.4(BRCA2):c.9498del (p.Glu3167fs)
|
rs397508055
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9501+1G>T
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9501+1dup
|
rs2073025642
|
|
NM_000059.4(BRCA2):c.9502-1G>A
|
|
|
NM_000059.4(BRCA2):c.9502-1G>C
|
|
|
NM_000059.4(BRCA2):c.9502-2A>C
|
rs81002868
|
|
NM_000059.4(BRCA2):c.9502-8_9502-3delinsAA
|
|
|
NM_000059.4(BRCA2):c.9502-8_9504dup
|
|
|
NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs)
|
rs80359769
|
|
NM_000059.4(BRCA2):c.9569del (p.Lys3190fs)
|
|
|
NM_000059.4(BRCA2):c.9581dup (p.Thr3195fs)
|
|
|
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs)
|
rs2073041280
|
|
NM_000059.4(BRCA2):c.9588del (p.Asp3197fs)
|
rs876661285
|
|
NM_000059.4(BRCA2):c.958del (p.Leu320fs)
|
|
|
NM_000059.4(BRCA2):c.9591del (p.Cys3198fs)
|
rs1555289787
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000059.4(BRCA2):c.9633dup (p.Gly3212fs)
|
rs1555289805
|
|
NM_000059.4(BRCA2):c.9648+1G>A
|
rs730881573
|
|
NM_000059.4(BRCA2):c.9648+2T>C
|
rs1566260318
|
|
NM_000059.4(BRCA2):c.9649-12T>G
|
|
|
NM_000059.4(BRCA2):c.9649-1G>C
|
rs1555289898
|
|
NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs)
|
rs1593201647
|
|
NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs)
|
rs80359774
|
|
NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter)
|
rs2073049381
|
|
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)
|
rs755175776
|
|
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)
|
rs1593201677
|
|
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter)
|
rs746413844
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9711del (p.Lys3238fs)
|
rs1555289923
|
|
NM_000059.4(BRCA2):c.9730_9731del (p.Val3244fs)
|
|
|
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)
|
rs886040850
|
|
NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs)
|
rs1555289953
|
|
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)
|
rs1566260997
|
|
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)
|
rs1593201815
|
|
NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)
|
rs1566261010
|
|
NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)
|
rs886040851
|
|
NM_000059.4(BRCA2):c.9799_9800del (p.Lys3267fs)
|
|
|
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)
|
rs398122622
|
|
NM_000059.4(BRCA2):c.9850_9866del (p.Ser3284fs)
|
rs1566261091
|
|
NM_000059.4(BRCA2):c.9868del (p.Val3290fs)
|
rs80359776
|
|
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)
|
rs80359247
|
|
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)
|
rs1555289997
|
|
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)
|
rs80359251
|
|
NM_000059.4(BRCA2):c.9981del (p.Lys3327fs)
|
|
|
Single allele
|
|
|