NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter)
|
rs1364256214
|
0.00003
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)
|
rs876659250
|
0.00002
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3285_3286insGTTAATG (p.Asn1096fs)
|
rs1966508734
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter)
|
rs878853995
|
0.00001
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter)
|
rs761702998
|
0.00001
|
NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter)
|
rs1213894295
|
0.00001
|
NM_000465.4(BARD1):c.1512dup (p.Gly505fs)
|
rs1553619249
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000465.4(BARD1):c.1678-1G>T
|
rs767208318
|
0.00001
|
NM_000465.4(BARD1):c.16C>T (p.Gln6Ter)
|
rs876658234
|
0.00001
|
NM_000465.4(BARD1):c.1817_1818del (p.His606fs)
|
rs587782897
|
0.00001
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs)
|
rs775167943
|
0.00001
|
NM_007194.4(CHEK2):c.622del (p.Asp208fs)
|
rs773955899
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)
|
rs587782446
|
0.00001
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)
|
rs752592662
|
0.00001
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
NM_024675.4(PALB2):c.2888del (p.Ser963fs)
|
rs587776420
|
0.00001
|
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)
|
rs1555459386
|
0.00001
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.395del (p.Val132fs)
|
rs180177085
|
0.00001
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)
|
rs769240800
|
0.00001
|
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)
|
rs1327399690
|
0.00001
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs)
|
rs2061477722
|
0.00001
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
NC_000002.11:g.(?_215590360)_(215674445_?)del
|
|
|
NC_000002.11:g.(?_215593394)_(215634042_?)del
|
|
|
NC_000002.11:g.(?_215593400)_(215610588_?)del
|
|
|
NC_000002.11:g.(?_215593400)_(215617289_?)del
|
|
|
NC_000002.11:g.(?_215593400)_(215634046_?)del
|
|
|
NC_000002.11:g.(?_215593400)_(215646243_?)del
|
|
|
NC_000002.11:g.(?_215593400)_(215657179_?)del
|
|
|
NC_000002.11:g.(?_215593400)_(215661851_?)del
|
|
|
NC_000002.11:g.(?_215609620)_(215674259_?)del
|
|
|
NC_000002.11:g.(?_215609781)_(215610588_?)del
|
|
|
NC_000002.11:g.(?_215609781)_(215634046_?)del
|
|
|
NC_000002.11:g.(?_215610976)_(215619002_?)del
|
|
|
NC_000002.11:g.(?_215617161)_(215617289_?)del
|
|
|
NC_000002.11:g.(?_215617161)_(215674293_?)del
|
|
|
NC_000002.11:g.(?_215633946)_(215674293_?)del
|
|
|
NC_000002.11:g.(?_215645264)_(215646253_?)del
|
|
|
NC_000002.11:g.(?_215645274)_(215646243_?)del
|
|
|
NC_000002.11:g.(?_215645274)_(215661851_?)del
|
|
|
NC_000002.11:g.(?_215645274)_(215674293_?)del
|
|
|
NC_000002.11:g.(?_215657011)_(215674293_?)del
|
|
|
NC_000002.11:g.(?_215661775)_(215661851_?)del
|
|
|
NC_000002.11:g.(?_215661775)_(215674293_?)del
|
|
|
NC_000002.12:g.(?_214728666)_(214745864_?)del
|
|
|
NC_000002.12:g.(?_214728666)_(214797127_?)del
|
|
|
NC_000002.12:g.(?_214728666)_(214809579_?)del
|
|
|
NC_000002.12:g.(?_214728670)_(214781515_?)del
|
|
|
NC_000002.12:g.(?_214728676)_(214809569_?)del
|
|
|
NC_000002.12:g.(?_214745057)_(214767664_?)del
|
|
|
NC_000002.12:g.(?_214745057)_(214809569_?)del
|
|
|
NC_000002.12:g.(?_214745057)_(214809579_?)del
|
|
|
NC_000002.12:g.(?_214745712)_(214752565_?)del
|
|
|
NC_000002.12:g.(?_214745716)_(214752561_?)del
|
|
|
NC_000002.12:g.(?_214752437)_(214781519_?)del
|
|
|
NC_000002.12:g.(?_214752437)_(214809579_?)del
|
|
|
NC_000002.12:g.(?_214752441)_(214752561_?)del
|
|
|
NC_000002.12:g.(?_214767472)_(214767664_?)del
|
|
|
NC_000002.12:g.(?_214767472)_(214769322_?)del
|
|
|
NC_000002.12:g.(?_214767472)_(214809569_?)del
|
|
|
NC_000002.12:g.(?_214767476)_(214769318_?)del
|
|
|
NC_000002.12:g.(?_214780550)_(214809579_?)del
|
|
|
NC_000002.12:g.(?_214780554)_(214781515_?)del
|
|
|
NC_000002.12:g.(?_214797055)_(214809575_?)del
|
|
|
NC_000002.12:g.(?_214809402)_(214809569_?)del
|
|
|
NC_000002.12:g.(?_214809402)_(214809579_?)del
|
|
|
NC_000002.12:g.(?_214809406)_(214809575_?)del
|
|
|
NC_000016.10:g.(?_23603162)_(23641357_?)del
|
|
|
NC_000016.10:g.(?_23603313)_(23603679_?)del
|
|
|
NC_000016.10:g.(?_23603313)_(23608022_?)del
|
|
|
NC_000016.10:g.(?_23603313)_(23626407_?)del
|
|
|
NC_000016.10:g.(?_23603313)_(23641157_?)del
|
|
|
NC_000016.10:g.(?_23603449)_(23603679_?)del
|
|
|
NC_000016.10:g.(?_23603449)_(23608022_?)del
|
|
|
NC_000016.10:g.(?_23603449)_(23614101_?)del
|
|
|
NC_000016.10:g.(?_23603449)_(23626407_?)del
|
|
|
NC_000016.10:g.(?_23603449)_(23641167_?)del
|
|
|
NC_000016.10:g.(?_23603453)_(23614097_?)del
|
|
|
NC_000016.10:g.(?_23603459)_(23608012_?)del
|
|
|
NC_000016.10:g.(?_23603459)_(23626397_?)del
|
|
|
NC_000016.10:g.(?_23621352)_(23626407_?)del
|
|
|
NC_000016.10:g.(?_23621352)_(23636344_?)del
|
|
|
NC_000016.10:g.(?_23621352)_(23641167_?)del
|
|
|
NC_000016.10:g.(?_23621362)_(23626397_?)del
|
|
|
NC_000016.10:g.(?_23623999)_(23624104_?)del
|
|
|
NC_000016.10:g.(?_23623999)_(23626407_?)del
|
|
|
NC_000016.10:g.(?_23624009)_(23624094_?)del
|
|
|
NC_000016.10:g.(?_23626226)_(23630479_?)del
|
|
|
NC_000016.10:g.(?_23626226)_(23636344_?)del
|
|
|
NC_000016.10:g.(?_23626236)_(23630469_?)del
|
|
|
NC_000016.10:g.(?_23629194)_(23630479_?)del
|
|
|
NC_000016.10:g.(?_23629194)_(23641157_?)del
|
|
|
NC_000016.10:g.(?_23629630)_(23630479_?)del
|
|
|
NC_000016.10:g.(?_23634852)_(23638139_?)del
|
|
|
NC_000016.10:g.(?_23634852)_(23641167_?)del
|
|
|
NC_000016.10:g.(?_23634856)_(23641163_?)del
|
|
|
NC_000016.10:g.(?_23637840)_(23638139_?)del
|
|
|
NC_000016.10:g.(?_23637840)_(23641167_?)del
|
|
|
NC_000016.10:g.23608013del
|
rs2142274423
|
|
NC_000016.9:g.(?_23584033)_(23647150_?)del
|
|
|
NC_000016.9:g.(?_23614634)_(23625422_?)del
|
|
|
NC_000016.9:g.(?_23614634)_(23649460_?)del
|
|
|
NC_000016.9:g.(?_23619175)_(23619343_?)del
|
|
|
NC_000016.9:g.(?_23619175)_(23649460_?)del
|
|
|
NC_000016.9:g.(?_23619175)_(23652478_?)del
|
|
|
NC_000016.9:g.(?_23625315)_(23625422_?)del
|
|
|
NC_000016.9:g.(?_23625315)_(23634461_?)del
|
|
|
NC_000016.9:g.(?_23625315)_(23652478_?)del
|
|
|
NC_000016.9:g.(?_23632673)_(23635425_?)del
|
|
|
NC_000016.9:g.(?_23634280)_(23641800_?)del
|
|
|
NC_000016.9:g.(?_23635320)_(23652478_?)del
|
|
|
NC_000016.9:g.(?_23640505)_(23641810_?)del
|
|
|
NC_000016.9:g.(?_23640515)_(23647665_?)del
|
|
|
NC_000016.9:g.(?_23652421)_(23652478_?)del
|
|
|
NC_000016.9:g.23641376_23641377insAlu
|
|
|
NC_000017.10:g.(?_59760657)_(59761511_?)del
|
|
|
NC_000017.10:g.(?_59760657)_(59763536_?)del
|
|
|
NC_000017.10:g.(?_59760657)_(59770883_?)del
|
|
|
NC_000017.10:g.(?_59760657)_(59821962_?)del
|
|
|
NC_000017.10:g.(?_59760657)_(59861805_?)del
|
|
|
NC_000017.10:g.(?_59760657)_(59871100_?)del
|
|
|
NC_000017.10:g.(?_59760657)_(59934602_?)del
|
|
|
NC_000017.10:g.(?_59770781)_(59770883_?)del
|
|
|
NC_000017.10:g.(?_59770781)_(59938900_?)del
|
|
|
NC_000017.10:g.(?_59820364)_(59886128_?)del
|
|
|
NC_000017.10:g.(?_59853752)_(59858376_?)del
|
|
|
NC_000017.10:g.(?_59857612)_(59858376_?)del
|
|
|
NC_000017.10:g.(?_59858191)_(59858864_?)del
|
|
|
NC_000017.10:g.(?_59861621)_(59861795_?)del
|
|
|
NC_000017.10:g.(?_59861718)_(59940920_?)del
|
|
|
NC_000017.10:g.(?_59870948)_(59871100_?)del
|
|
|
NC_000017.10:g.(?_59876451)_(59886128_?)del
|
|
|
NC_000017.10:g.(?_59924452)_(59938900_?)del
|
|
|
NC_000017.10:g.(?_59926480)_(59926627_?)del
|
|
|
NC_000017.10:g.(?_59926480)_(59934602_?)del
|
|
|
NC_000017.10:g.(?_59937147)_(59937278_?)del
|
|
|
NC_000017.10:g.(?_59937147)_(59938900_?)del
|
|
|
NC_000017.11:g.(?_61683286)_(61693522_?)del
|
|
|
NC_000017.11:g.(?_61683286)_(61716073_?)del
|
|
|
NC_000017.11:g.(?_61683290)_(61684146_?)del
|
|
|
NC_000017.11:g.(?_61683296)_(61716073_?)del
|
|
|
NC_000017.11:g.(?_61715941)_(61716073_?)del
|
|
|
NC_000017.11:g.(?_61715941)_(61808767_?)del
|
|
|
NC_000017.11:g.(?_61743007)_(61808763_?)del
|
|
|
NC_000017.11:g.(?_61744422)_(61744601_?)del
|
|
|
NC_000017.11:g.(?_61776391)_(61808767_?)del
|
|
|
NC_000017.11:g.(?_61776395)_(61801480_?)del
|
|
|
NC_000017.11:g.(?_61776395)_(61861545_?)del
|
|
|
NC_000017.11:g.(?_61780255)_(61781011_?)del
|
|
|
NC_000017.11:g.(?_61799090)_(61801484_?)del
|
|
|
NC_000017.11:g.(?_61847091)_(61849266_?)del
|
|
|
NC_000017.11:g.(?_61847091)_(61861549_?)del
|
|
|
NC_000017.11:g.(?_61847101)_(61849256_?)del
|
|
|
NC_000017.11:g.(?_61857048)_(61861539_?)del
|
|
|
NC_000017.11:g.(?_61857048)_(61861549_?)del
|
|
|
NC_000017.11:g.(?_61857052)_(61861545_?)del
|
|
|
NC_000017.11:g.(?_61859786)_(61861549_?)del
|
|
|
NC_000022.10:g.(?_29081001)_29140000del
|
|
|
NC_000022.10:g.(?_29082731)_(29138822_?)del
|
|
|
NC_000022.10:g.(?_29083875)_(30090801_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29090115_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29095935_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29099564_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29108015_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29130709_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29621477_?)del
|
|
|
NC_000022.10:g.(?_29090010)_(29115483_?)del
|
|
|
NC_000022.10:g.(?_29090010)_(29130713_?)del
|
|
|
NC_000022.10:g.(?_29091105)_(29091240_?)del
|
|
|
NC_000022.10:g.(?_29092879)_(29095935_?)del
|
|
|
NC_000022.10:g.(?_29095820)_(29130715_?)del
|
|
|
NC_000022.10:g.(?_29099483)_(29108015_?)del
|
|
|
NC_000022.10:g.(?_29105984)_(29115483_?)del
|
|
|
NC_000022.10:g.(?_29105984)_(30337586_?)del
|
|
|
NC_000022.10:g.(?_29105988)_(29115479_?)del
|
|
|
NC_000022.10:g.(?_29115373)_(29121365_?)del
|
|
|
NC_000022.10:g.(?_29115377)_(29115479_?)del
|
|
|
NC_000022.10:g.(?_29121102)_(29125325_?)del
|
|
|
NC_000022.10:g.(?_29130385)_(29130715_?)del
|
|
|
NC_000022.10:g.(?_29130452)_(29160933_?)del
|
|
|
NC_000022.11:g.(?_28687743)_(28725367_?)del
|
|
|
NC_000022.11:g.(?_28687743)_(28741834_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28699947_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28703576_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28710069_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28719495_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28725377_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28696993_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28703572_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28734727_?)del
|
|
|
NC_000022.11:g.(?_28687897)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28687897)_(28725377_?)del
|
|
|
NC_000022.11:g.(?_28694022)_(28694127_?)del
|
|
|
NC_000022.11:g.(?_28694022)_(28699947_?)del
|
|
|
NC_000022.11:g.(?_28694022)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28694026)_(28734727_?)del
|
|
|
NC_000022.11:g.(?_28695117)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28695121)_(28703572_?)del
|
|
|
NC_000022.11:g.(?_28695700)_(28703576_?)del
|
|
|
NC_000022.11:g.(?_28699832)_(28699943_?)del
|
|
|
NC_000022.11:g.(?_28703495)_(28703576_?)del
|
|
|
NC_000022.11:g.(?_28703505)_(28703566_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28712027_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28710000)_(28712023_?)del
|
|
|
NC_000022.11:g.(?_28710006)_(28719485_?)del
|
|
|
NC_000022.11:g.(?_28711899)_(28712027_?)del
|
|
|
NC_000022.11:g.(?_28719385)_(28734725_?)del
|
|
|
NC_000022.11:g.(?_28719385)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28724967)_(28725377_?)del
|
|
|
NC_000022.11:g.(?_28724967)_(28734725_?)del
|
|
|
NC_000022.11:g.(?_28724967)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28724977)_(28725367_?)del
|
|
|
NC_000022.11:g.(?_28725237)_(28725373_?)del
|
|
|
NC_000022.11:g.(?_28734393)_(28734725_?)del
|
|
|
NC_000022.11:g.(?_28734393)_(28734731_?)del
|
|
|
NC_000022.11:g.28710060del
|
|
|
NM_000465.3(BARD1):c.1569-?_*3030+?del
|
|
|
NM_000465.4(BARD1):c.1002del (p.Arg335fs)
|
rs1694972839
|
|
NM_000465.4(BARD1):c.1003A>T (p.Arg335Ter)
|
rs1694972567
|
|
NM_000465.4(BARD1):c.100dup (p.Trp34fs)
|
rs1553628410
|
|
NM_000465.4(BARD1):c.1014del (p.Ser339fs)
|
rs1064793682
|
|
NM_000465.4(BARD1):c.1021dup (p.Leu341fs)
|
rs1553622300
|
|
NM_000465.4(BARD1):c.1023del (p.Ser342fs)
|
rs876660061
|
|
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter)
|
rs879254280
|
|
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)
|
rs2106109048
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
NM_000465.4(BARD1):c.1068_1071del (p.Ile357fs)
|
rs2106108885
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
NM_000465.4(BARD1):c.1147_1148del (p.Met383fs)
|
|
|
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter)
|
rs1553622218
|
|
NM_000465.4(BARD1):c.1160_1164dup (p.Ser391fs)
|
rs2106108347
|
|
NM_000465.4(BARD1):c.1160del (p.Phe387fs)
|
rs1553622216
|
|
NM_000465.4(BARD1):c.1164_1189del (p.Ser389fs)
|
|
|
NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter)
|
rs878853995
|
|
NM_000465.4(BARD1):c.1177_1180dup (p.Thr394fs)
|
rs1559423694
|
|
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs)
|
rs1694949382
|
|
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
|
rs1172609046
|
|
NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter)
|
rs1553622178
|
|
NM_000465.4(BARD1):c.1227_1230del (p.Ser410fs)
|
rs2106107966
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
NM_000465.4(BARD1):c.1270del (p.Arg424fs)
|
rs876660911
|
|
NM_000465.4(BARD1):c.1278_1279del (p.His426fs)
|
rs1694939675
|
|
NM_000465.4(BARD1):c.1281_1284del (p.Gly428fs)
|
rs1553622103
|
|
NM_000465.4(BARD1):c.1307_1310del (p.Ser436fs)
|
rs1574815812
|
|
NM_000465.4(BARD1):c.1325del (p.Pro442fs)
|
rs1060501287
|
|
NM_000465.4(BARD1):c.1328_1329del (p.Ser443fs)
|
rs1694365276
|
|
NM_000465.4(BARD1):c.1329del (p.Val444fs)
|
rs767587416
|
|
NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter)
|
rs761702998
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
|
|
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)
|
rs1553619721
|
|
NM_000465.4(BARD1):c.1345del (p.Gln449fs)
|
rs2106081379
|
|
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)
|
rs876660390
|
|
NM_000465.4(BARD1):c.1350dup (p.Gly451fs)
|
|
|
NM_000465.4(BARD1):c.1366_1369delinsCTT (p.Val456fs)
|
rs1694360411
|
|
NM_000465.4(BARD1):c.1371dup (p.Asp458fs)
|
rs1553619704
|
|
NM_000465.4(BARD1):c.1375del (p.His459fs)
|
|
|
NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter)
|
rs1370053894
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
NM_000465.4(BARD1):c.1426del (p.Lys475_Val476insTer)
|
rs1559410146
|
|
NM_000465.4(BARD1):c.1429del (p.Val477fs)
|
|
|
NM_000465.4(BARD1):c.1450A>T (p.Lys484Ter)
|
rs1694273552
|
|
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
|
|
|
NM_000465.4(BARD1):c.1480_1481del (p.Gln493_Asn494insTer)
|
rs2106076720
|
|
NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter)
|
rs1405646805
|
|
NM_000465.4(BARD1):c.1499dup (p.Asp500fs)
|
rs1553619258
|
|
NM_000465.4(BARD1):c.1510_1514dup (p.His506fs)
|
|
|
NM_000465.4(BARD1):c.1535del (p.Leu512fs)
|
rs2106076377
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
|
|
|
NM_000465.4(BARD1):c.157del (p.Cys53fs)
|
rs1696452439
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-2A>C
|
rs1424761304
|
|
NM_000465.4(BARD1):c.1590_1617del (p.Val531fs)
|
|
|
NM_000465.4(BARD1):c.1600_1634delinsGCG (p.Thr534fs)
|
rs1064792931
|
|
NM_000465.4(BARD1):c.1620del (p.Lys540fs)
|
rs1693504040
|
|
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)
|
rs777937955
|
|
NM_000465.4(BARD1):c.1635_1663dup (p.Ser555fs)
|
rs1553616352
|
|
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
|
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
NM_000465.4(BARD1):c.1678-1G>A
|
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
NM_000465.4(BARD1):c.168del (p.Ile56_Leu57insTer)
|
rs1574847428
|
|
NM_000465.4(BARD1):c.1723_1729del (p.Ser575fs)
|
rs2106021114
|
|
NM_000465.4(BARD1):c.1725_1903+740del
|
|
|
NM_000465.4(BARD1):c.1728dup (p.Leu577fs)
|
|
|
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
|
|
|
NM_000465.4(BARD1):c.1736C>G (p.Ser579Ter)
|
|
|
NM_000465.4(BARD1):c.1741C>T (p.Gln581Ter)
|
rs2106021020
|
|
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter)
|
rs1553615135
|
|
NM_000465.4(BARD1):c.1758_1761del (p.Glu587fs)
|
rs1574739207
|
|
NM_000465.4(BARD1):c.1765dup (p.Ala589fs)
|
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1771del (p.Ile591fs)
|
rs1574739114
|
|
NM_000465.4(BARD1):c.1776_1777insTTTTTTTTTTTTTTTTTTTGNNNNNNNNNNCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGCAGTAATTCTT (p.Lys593delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuAspLeuLeuThrSerTer)
|
rs2106020750
|
|
NM_000465.4(BARD1):c.1786_1793del (p.Lys595_Lys596insTer)
|
rs1693074467
|
|
NM_000465.4(BARD1):c.1786_1804del (p.Lys596fs)
|
rs1553615102
|
|
NM_000465.4(BARD1):c.1788_1792del (p.Lys596fs)
|
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
NM_000465.4(BARD1):c.1788dup (p.Tyr597fs)
|
|
|
NM_000465.4(BARD1):c.1789_1792del (p.Tyr597fs)
|
|
|
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer)
|
rs1553615092
|
|
NM_000465.4(BARD1):c.1817del (p.His606fs)
|
|
|
NM_000465.4(BARD1):c.1829del (p.Pro610fs)
|
rs1693042024
|
|
NM_000465.4(BARD1):c.1833dup (p.Asp612Ter)
|
rs1553614963
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
|
|
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter)
|
rs751710099
|
|
NM_000465.4(BARD1):c.184del (p.Cys62fs)
|
rs1559441846
|
|
NM_000465.4(BARD1):c.185_186del (p.Cys62fs)
|
rs2106145629
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000465.4(BARD1):c.1875_1876del (p.Asn626fs)
|
|
|
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter)
|
rs878854003
|
|
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter)
|
rs1692308262
|
|
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)
|
rs773223671
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.2001+1G>T
|
rs768490891
|
|
NM_000465.4(BARD1):c.225_228del (p.Ser76fs)
|
rs1553624830
|
|
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)
|
rs1358155595
|
|
NM_000465.4(BARD1):c.226del (p.Ser76fs)
|
rs1559437264
|
|
NM_000465.4(BARD1):c.234C>A (p.Cys78Ter)
|
|
|
NM_000465.4(BARD1):c.244G>T (p.Gly82Ter)
|
rs1559437226
|
|
NM_000465.4(BARD1):c.249T>A (p.Cys83Ter)
|
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter)
|
rs2106135008
|
|
NM_000465.4(BARD1):c.273del (p.Ala90_Trp91insTer)
|
rs1553624801
|
|
NM_000465.4(BARD1):c.277C>T (p.Gln93Ter)
|
rs876658571
|
|
NM_000465.4(BARD1):c.292_295del (p.Asn98fs)
|
rs1553624758
|
|
NM_000465.4(BARD1):c.295del (p.Arg99fs)
|
|
|
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)
|
rs786201912
|
|
NM_000465.4(BARD1):c.30dup (p.Gln11fs)
|
rs1553628482
|
|
NM_000465.4(BARD1):c.316C>T (p.Gln106Ter)
|
rs2106134639
|
|
NM_000465.4(BARD1):c.341T>A (p.Leu114Ter)
|
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
|
|
NM_000465.4(BARD1):c.413_419del (p.Asn138fs)
|
rs1574821575
|
|
NM_000465.4(BARD1):c.415_416del (p.Lys139fs)
|
rs1420243208
|
|
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)
|
rs587781806
|
|
NM_000465.4(BARD1):c.441dup (p.Ser148Ter)
|
rs1553622681
|
|
NM_000465.4(BARD1):c.457_460dup (p.Val154fs)
|
rs772486760
|
|
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter)
|
rs1553622669
|
|
NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)
|
rs750350372
|
|
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)
|
rs786202500
|
|
NM_000465.4(BARD1):c.512_513del (p.Lys171fs)
|
|
|
NM_000465.4(BARD1):c.513dup (p.Asp172fs)
|
rs746325928
|
|
NM_000465.4(BARD1):c.517dup (p.Ala173fs)
|
rs1574821129
|
|
NM_000465.4(BARD1):c.526C>T (p.Gln176Ter)
|
rs776851287
|
|
NM_000465.4(BARD1):c.529C>T (p.Gln177Ter)
|
|
|
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer)
|
rs779427628
|
|
NM_000465.4(BARD1):c.541G>T (p.Glu181Ter)
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000465.4(BARD1):c.583dup (p.Ala195fs)
|
|
|
NM_000465.4(BARD1):c.590del (p.Lys197fs)
|
|
|
NM_000465.4(BARD1):c.596_597dup (p.Ala200fs)
|
rs1574820590
|
|
NM_000465.4(BARD1):c.601del (p.Arg201fs)
|
|
|
NM_000465.4(BARD1):c.607G>T (p.Gly203Ter)
|
rs730881415
|
|
NM_000465.4(BARD1):c.614del (p.Lys205fs)
|
rs1559425604
|
|
NM_000465.4(BARD1):c.614dup (p.Gln206fs)
|
rs1559425604
|
|
NM_000465.4(BARD1):c.616C>T (p.Gln206Ter)
|
rs1453894904
|
|
NM_000465.4(BARD1):c.616dup (p.Gln206fs)
|
rs2106111411
|
|
NM_000465.4(BARD1):c.623dup (p.Lys209fs)
|
rs587780033
|
|
NM_000465.4(BARD1):c.624dup (p.Lys209fs)
|
rs1553622558
|
|
NM_000465.4(BARD1):c.627_628del (p.Lys209fs)
|
rs864622223
|
|
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.632del (p.Thr210_Leu211insTer)
|
|
|
NM_000465.4(BARD1):c.640dup (p.Ile214fs)
|
|
|
NM_000465.4(BARD1):c.646del (p.Gln216fs)
|
rs1553622542
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)
|
rs1553622530
|
|
NM_000465.4(BARD1):c.659del (p.Asn219_Leu220insTer)
|
|
|
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter)
|
rs1064793049
|
|
NM_000465.4(BARD1):c.680dup (p.Gly227_Glu228insTer)
|
|
|
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs)
|
rs876659040
|
|
NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)
|
rs905491643
|
|
NM_000465.4(BARD1):c.716del (p.Leu239fs)
|
rs2106110871
|
|
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter)
|
rs587781430
|
|
NM_000465.4(BARD1):c.737dup (p.Ser247fs)
|
|
|
NM_000465.4(BARD1):c.741_750del (p.Ile249fs)
|
rs1559425098
|
|
NM_000465.4(BARD1):c.745dup (p.Ile249fs)
|
rs1553622487
|
|
NM_000465.4(BARD1):c.755del (p.Pro252fs)
|
rs1553622471
|
|
NM_000465.4(BARD1):c.779T>G (p.Leu260Ter)
|
rs1559425010
|
|
NM_000465.4(BARD1):c.780dup (p.Leu261fs)
|
rs2106110487
|
|
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)
|
rs587780037
|
|
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter)
|
rs1060501288
|
|
NM_000465.4(BARD1):c.810del (p.Glu270fs)
|
|
|
NM_000465.4(BARD1):c.824T>A (p.Leu275Ter)
|
rs765629130
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
NM_000465.4(BARD1):c.83del (p.Pro28fs)
|
rs2106171367
|
|
NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer)
|
rs2106110129
|
|
NM_000465.4(BARD1):c.858dup (p.Glu287fs)
|
rs1553622397
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
NM_000465.4(BARD1):c.891_895del (p.Val298fs)
|
rs1574818696
|
|
NM_000465.4(BARD1):c.925dup (p.Thr309fs)
|
rs2106109750
|
|
NM_000465.4(BARD1):c.92dup (p.Gly32fs)
|
|
|
NM_000465.4(BARD1):c.934A>T (p.Lys312Ter)
|
rs1060501291
|
|
NM_000465.4(BARD1):c.979A>T (p.Arg327Ter)
|
rs1559424358
|
|
NM_000465.4(BARD1):c.985del (p.Ser329fs)
|
|
|
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)
|
rs1482641121
|
|
NM_000465.4(BARD1):c.99del (p.Trp34fs)
|
rs2106171232
|
|
NM_001407299.1(PALB2):c.3113+7271del
|
rs1597073423
|
|
NM_007194.3(CHEK2):c.909-?_1095+?del
|
|
|
NM_007194.3(CHEK2):c.909delG
|
rs1057517596
|
|
NM_007194.4(CHEK2):c.1007del (p.Gln336fs)
|
rs1569120831
|
|
NM_007194.4(CHEK2):c.1009-1264C>G
|
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)
|
rs2054330803
|
|
NM_007194.4(CHEK2):c.1014_1036dup (p.Arg346fs)
|
rs2145817523
|
|
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
|
|
|
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs)
|
rs1601727263
|
|
NM_007194.4(CHEK2):c.1022del (p.Asn341fs)
|
rs1569116316
|
|
NM_007194.4(CHEK2):c.1030del (p.Ile344fs)
|
rs2145817725
|
|
NM_007194.4(CHEK2):c.1039_1043del (p.Asp347fs)
|
|
|
NM_007194.4(CHEK2):c.1041del (p.Asp347_Leu348insTer)
|
|
|
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)
|
rs2145817185
|
|
NM_007194.4(CHEK2):c.1048_1049insA (p.Pro350fs)
|
|
|
NM_007194.4(CHEK2):c.1049del (p.Pro350fs)
|
rs1601727022
|
|
NM_007194.4(CHEK2):c.1050del (p.Glu351fs)
|
rs2052610542
|
|
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter)
|
rs2145816590
|
|
NM_007194.4(CHEK2):c.1063del (p.Leu355fs)
|
rs1555914279
|
|
NM_007194.4(CHEK2):c.1065del (p.Ser356fs)
|
|
|
NM_007194.4(CHEK2):c.1067C>G (p.Ser356Ter)
|
rs121908703
|
|
NM_007194.4(CHEK2):c.1067_1077del (p.Leu355_Ser356insTer)
|
rs2145816053
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)
|
rs878854909
|
|
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
|
|
|
NM_007194.4(CHEK2):c.1075del (p.Glu359fs)
|
|
|
NM_007194.4(CHEK2):c.1077del (p.Glu360fs)
|
rs2145816035
|
|
NM_007194.4(CHEK2):c.107del (p.Gln36fs)
|
|
|
NM_007194.4(CHEK2):c.1085del (p.Cys362fs)
|
|
|
NM_007194.4(CHEK2):c.1093_1094dup (p.Ile366fs)
|
rs2145815556
|
|
NM_007194.4(CHEK2):c.1096del (p.Ile366fs)
|
rs1555913941
|
|
NM_007194.4(CHEK2):c.1098_1108dup (p.Gly370fs)
|
rs2145806928
|
|
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs)
|
rs1555932583
|
|
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
|
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1116del (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1118dup (p.Ile374fs)
|
rs2052564279
|
|
NM_007194.4(CHEK2):c.1123_1124del (p.Leu375fs)
|
rs2145806264
|
|
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
|
|
|
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
|
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter)
|
rs2145805017
|
|
NM_007194.4(CHEK2):c.1159_1160delinsG (p.Thr387fs)
|
|
|
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1170del (p.Leu391fs)
|
rs2145804427
|
|
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs)
|
rs1569113653
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs)
|
rs1569171106
|
|
NM_007194.4(CHEK2):c.1192dup (p.Ser398fs)
|
|
|
NM_007194.4(CHEK2):c.1193_1197del (p.Ser398fs)
|
|
|
NM_007194.4(CHEK2):c.1193del (p.Ser398fs)
|
rs2052556835
|
|
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs)
|
rs2145803112
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1209_1233dup (p.Ser412delinsValTer)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1210_1211insTT (p.Tyr404fs)
|
rs2052554226
|
|
NM_007194.4(CHEK2):c.1210_1216dup (p.Arg406delinsLeuTer)
|
|
|
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs)
|
rs2052553224
|
|
NM_007194.4(CHEK2):c.1210del (p.Tyr404fs)
|
|
|
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter)
|
rs773380144
|
|
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter)
|
rs1064796572
|
|
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
|
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
NM_007194.4(CHEK2):c.123del (p.Ser42fs)
|
|
|
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter)
|
rs878854913
|
|
NM_007194.4(CHEK2):c.1246del (p.Ile416fs)
|
rs2145801378
|
|
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs)
|
rs2145801350
|
|
NM_007194.4(CHEK2):c.1248del (p.Leu417fs)
|
rs2145801216
|
|
NM_007194.4(CHEK2):c.1250_1258delinsATCTTTTATCG (p.Leu417fs)
|
|
|
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
|
|
|
NM_007194.4(CHEK2):c.1254_1255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAGTTATTCTTTTT (p.Ile419delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
|
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
NM_007194.4(CHEK2):c.1258del (p.Cys420fs)
|
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.125del (p.Ser42fs)
|
|
|
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1264dup (p.Ser422fs)
|
rs2145796040
|
|
NM_007194.4(CHEK2):c.126_127insTG (p.Thr43Ter)
|
|
|
NM_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
|
|
|
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)
|
rs1555913494
|
|
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs)
|
rs1555913493
|
|
NM_007194.4(CHEK2):c.129del (p.Ser44fs)
|
|
|
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer)
|
rs2145794764
|
|
NM_007194.4(CHEK2):c.1312dup (p.Asp438fs)
|
|
|
NM_007194.4(CHEK2):c.1314del (p.Gln439fs)
|
rs2145794535
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1332del (p.Lys444fs)
|
rs2145794013
|
|
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter)
|
rs1214213337
|
|
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter)
|
rs1601719469
|
|
NM_007194.4(CHEK2):c.1335_1336del (p.Tyr445_Asn446delinsTer)
|
|
|
NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer)
|
rs1601719449
|
|
NM_007194.4(CHEK2):c.1335_1342del (p.Asn446fs)
|
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.133del (p.Thr45fs)
|
rs1555932518
|
|
NM_007194.4(CHEK2):c.1341del (p.Phe447fs)
|
rs2145793726
|
|
NM_007194.4(CHEK2):c.1343_1344del (p.Ile448fs)
|
rs2145793644
|
|
NM_007194.4(CHEK2):c.1344del (p.Pro449fs)
|
rs1601719328
|
|
NM_007194.4(CHEK2):c.1347del (p.Glu450fs)
|
rs1601719287
|
|
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter)
|
rs1555913429
|
|
NM_007194.4(CHEK2):c.1348del (p.Glu450fs)
|
|
|
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
|
rs1601719186
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
NM_007194.4(CHEK2):c.1360_1361del (p.Glu454fs)
|
rs2052514918
|
|
NM_007194.4(CHEK2):c.1360_1361insCA (p.Glu454fs)
|
rs2145793110
|
|
NM_007194.4(CHEK2):c.1362del (p.Val455fs)
|
rs2145793028
|
|
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs)
|
rs2145792978
|
|
NM_007194.4(CHEK2):c.1367C>A (p.Ser456Ter)
|
|
|
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter)
|
rs876659827
|
|
NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)
|
|
|
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs)
|
rs2052513579
|
|
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
|
|
|
NM_007194.4(CHEK2):c.1378del (p.Leu460fs)
|
|
|
NM_007194.4(CHEK2):c.1379del (p.Leu460fs)
|
rs2145786618
|
|
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
|
|
|
NM_007194.4(CHEK2):c.1398del (p.Leu466fs)
|
|
|
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter)
|
rs1555913161
|
|
NM_007194.4(CHEK2):c.1400del (p.Leu467fs)
|
rs2052472184
|
|
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
|
|
|
NM_007194.4(CHEK2):c.1420del (p.Arg474fs)
|
rs2145785415
|
|
NM_007194.4(CHEK2):c.1430del (p.Thr477fs)
|
rs2052468526
|
|
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter)
|
rs2145784977
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)
|
rs1555913106
|
|
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
|
|
|
NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)
|
|
|
NM_007194.4(CHEK2):c.1442del (p.Ala480_Leu481insTer)
|
|
|
NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs)
|
rs1555913094
|
|
NM_007194.4(CHEK2):c.1443_1458dup (p.Gln487fs)
|
|
|
NM_007194.4(CHEK2):c.1448dup (p.His483fs)
|
|
|
NM_007194.4(CHEK2):c.1451del (p.Pro484fs)
|
rs1555913078
|
|
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)
|
rs2145784297
|
|
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter)
|
rs1199577809
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
NM_007194.4(CHEK2):c.1455del (p.Trp485fs)
|
|
|
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs)
|
rs1601715865
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)
|
rs1420382294
|
|
NM_007194.4(CHEK2):c.1481del (p.Lys494fs)
|
rs2052247122
|
|
NM_007194.4(CHEK2):c.14C>A (p.Ser5Ter)
|
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs)
|
rs1555932481
|
|
NM_007194.4(CHEK2):c.152del (p.Gln51fs)
|
|
|
NM_007194.4(CHEK2):c.1542+1G>A
|
|
|
NM_007194.4(CHEK2):c.1543-9_1546del
|
rs1555911638
|
|
NM_007194.4(CHEK2):c.154del (p.Ser52fs)
|
|
|
NM_007194.4(CHEK2):c.159_160del (p.His54fs)
|
rs2054324732
|
|
NM_007194.4(CHEK2):c.161_164del (p.His54fs)
|
rs1569170839
|
|
NM_007194.4(CHEK2):c.16del (p.Asp6fs)
|
rs2146156838
|
|
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
|
|
|
NM_007194.4(CHEK2):c.179_180del (p.Leu60fs)
|
|
|
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
|
|
|
NM_007194.4(CHEK2):c.181del (p.Ser61fs)
|
rs1601852451
|
|
NM_007194.4(CHEK2):c.183del (p.Ser62fs)
|
rs2054322279
|
|
NM_007194.4(CHEK2):c.186del (p.Ser62_Leu63insTer)
|
rs2054322016
|
|
NM_007194.4(CHEK2):c.188del (p.Ser62_Leu63insTer)
|
rs2146148231
|
|
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs)
|
rs2054321037
|
|
NM_007194.4(CHEK2):c.199del (p.Ser67fs)
|
rs2054320626
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter)
|
rs878854917
|
|
NM_007194.4(CHEK2):c.209_216del (p.Glu70fs)
|
rs2054319272
|
|
NM_007194.4(CHEK2):c.214_223del (p.Tyr72fs)
|
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
NM_007194.4(CHEK2):c.222del (p.Pro75fs)
|
rs2146147030
|
|
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs)
|
rs2146146624
|
|
NM_007194.4(CHEK2):c.234_262del (p.Gln78fs)
|
rs2054316045
|
|
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)
|
rs1555932326
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.252del (p.Glu84fs)
|
rs1601851875
|
|
NM_007194.4(CHEK2):c.267_268insT (p.Pro90fs)
|
rs2054315696
|
|
NM_007194.4(CHEK2):c.269del (p.Pro90fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.271_272dup (p.Trp93fs)
|
|
|
NM_007194.4(CHEK2):c.271del (p.Ala91fs)
|
|
|
NM_007194.4(CHEK2):c.276del (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.276dup (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter)
|
rs786203889
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
NM_007194.4(CHEK2):c.287T>G (p.Leu96Ter)
|
|
|
NM_007194.4(CHEK2):c.288_289dup (p.Trp97fs)
|
|
|
NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)
|
|
|
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter)
|
rs2054312626
|
|
NM_007194.4(CHEK2):c.292del (p.Ala98fs)
|
rs1555932116
|
|
NM_007194.4(CHEK2):c.295del (p.Leu99fs)
|
rs1601851248
|
|
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)
|
rs2054311767
|
|
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter)
|
rs876659833
|
|
NM_007194.4(CHEK2):c.305del (p.Gly102fs)
|
rs2054311111
|
|
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
|
|
|
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
|
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
NM_007194.4(CHEK2):c.320-3970_454del
|
|
|
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer)
|
rs2053967484
|
|
NM_007194.4(CHEK2):c.324T>A (p.Cys108Ter)
|
|
|
NM_007194.4(CHEK2):c.326_327del (p.Val109fs)
|
rs1555927398
|
|
NM_007194.4(CHEK2):c.32_35del (p.Gln11fs)
|
rs2146155758
|
|
NM_007194.4(CHEK2):c.335_341del (p.Asn112fs)
|
|
|
NM_007194.4(CHEK2):c.338_358delinsG (p.Tyr113fs)
|
rs2053964098
|
|
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
|
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.33del (p.Gln11fs)
|
rs2146155911
|
|
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter)
|
rs1555927374
|
|
NM_007194.4(CHEK2):c.349del (p.Arg117fs)
|
rs2146071079
|
|
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
|
|
|
NM_007194.4(CHEK2):c.359del (p.Ser120fs)
|
rs2146070648
|
|
NM_007194.4(CHEK2):c.360del (p.Cys121fs)
|
rs1601825829
|
|
NM_007194.4(CHEK2):c.361del (p.Cys121fs)
|
rs2146070522
|
|
NM_007194.4(CHEK2):c.363T>A (p.Cys121Ter)
|
rs1209379774
|
|
NM_007194.4(CHEK2):c.364del (p.Glu122fs)
|
rs786203355
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
NM_007194.4(CHEK2):c.375del (p.Phe125fs)
|
|
|
NM_007194.4(CHEK2):c.383del (p.Pro128fs)
|
rs1569158776
|
|
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter)
|
rs1275395933
|
|
NM_007194.4(CHEK2):c.393_397del (p.Lys131fs)
|
|
|
NM_007194.4(CHEK2):c.394del (p.Arg132fs)
|
|
|
NM_007194.4(CHEK2):c.397del (p.Thr133fs)
|
rs2053960596
|
|
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer)
|
rs1569158640
|
|
NM_007194.4(CHEK2):c.400_403del (p.Asp134fs)
|
rs2146068388
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter)
|
rs911826883
|
|
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter)
|
rs911826883
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.417_418dup (p.Ser140fs)
|
|
|
NM_007194.4(CHEK2):c.417del (p.Thr138_Tyr139insTer)
|
|
|
NM_007194.4(CHEK2):c.41del (p.Gly14fs)
|
rs2146155398
|
|
NM_007194.4(CHEK2):c.426dup (p.His143fs)
|
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.433del (p.Arg145fs)
|
rs1555927137
|
|
NM_007194.4(CHEK2):c.440del (p.Phe147fs)
|
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.448_461del (p.Val150fs)
|
rs2146061709
|
|
NM_007194.4(CHEK2):c.448del (p.Val150fs)
|
rs1555927038
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
NM_007194.4(CHEK2):c.452del (p.Gly151fs)
|
rs2053949167
|
|
NM_007194.4(CHEK2):c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer)
|
rs2146060468
|
|
NM_007194.4(CHEK2):c.461del (p.Asn154fs)
|
|
|
NM_007194.4(CHEK2):c.464_465del (p.Ser155fs)
|
|
|
NM_007194.4(CHEK2):c.467dup (p.Tyr156Ter)
|
rs2053947943
|
|
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)
|
rs1555926996
|
|
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter)
|
rs1555926996
|
|
NM_007194.4(CHEK2):c.469del (p.Ile157fs)
|
rs2146061284
|
|
NM_007194.4(CHEK2):c.46_61del (p.Ser16fs)
|
rs2146154211
|
|
NM_007194.4(CHEK2):c.471del (p.Ile157fs)
|
rs2146061160
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)
|
rs864622453
|
|
NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs)
|
rs2146060162
|
|
NM_007194.4(CHEK2):c.502del (p.Thr168fs)
|
rs2146059921
|
|
NM_007194.4(CHEK2):c.504del (p.Phe169fs)
|
rs2146059828
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.50_53dup (p.Ser19fs)
|
|
|
NM_007194.4(CHEK2):c.512del (p.Asn171fs)
|
|
|
NM_007194.4(CHEK2):c.518_519del (p.Glu173fs)
|
|
|
NM_007194.4(CHEK2):c.524dup (p.Gly176fs)
|
rs587780184
|
|
NM_007194.4(CHEK2):c.526_530del (p.Gly176fs)
|
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
NM_007194.4(CHEK2):c.531del (p.Gly178fs)
|
|
|
NM_007194.4(CHEK2):c.537del (p.Lys179fs)
|
rs2053940893
|
|
NM_007194.4(CHEK2):c.538del (p.Arg180fs)
|
|
|
NM_007194.4(CHEK2):c.543_549del (p.Pro182fs)
|
rs2053939874
|
|
NM_007194.4(CHEK2):c.545dup (p.Leu183fs)
|
rs2146058345
|
|
NM_007194.4(CHEK2):c.547_548del (p.Leu183fs)
|
rs2146058204
|
|
NM_007194.4(CHEK2):c.548del (p.Pro182_Leu183insTer)
|
rs2146058204
|
|
NM_007194.4(CHEK2):c.557del (p.Asn186fs)
|
rs2146057730
|
|
NM_007194.4(CHEK2):c.55del (p.Ser19fs)
|
rs2146154644
|
|
NM_007194.4(CHEK2):c.561del (p.Glu188fs)
|
|
|
NM_007194.4(CHEK2):c.568_569delinsTG (p.Ala190Ter)
|
|
|
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter)
|
rs1555932877
|
|
NM_007194.4(CHEK2):c.56dup (p.Gln20fs)
|
|
|
NM_007194.4(CHEK2):c.571del (p.Leu191fs)
|
|
|
NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter)
|
rs899211928
|
|
NM_007194.4(CHEK2):c.580dup (p.Ser194fs)
|
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.600del (p.Phe202fs)
|
rs1555924538
|
|
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606_607insSVAelement
|
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.607del (p.Asp203fs)
|
|
|
NM_007194.4(CHEK2):c.614_615del (p.Thr205fs)
|
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.621del (p.Asp207fs)
|
rs1569150017
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
NM_007194.4(CHEK2):c.629C>A (p.Ser210Ter)
|
|
|
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)
|
rs767253467
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter)
|
rs2053693149
|
|
NM_007194.4(CHEK2):c.644del (p.Ala215fs)
|
rs2146006030
|
|
NM_007194.4(CHEK2):c.647T>G (p.Leu216Ter)
|
|
|
NM_007194.4(CHEK2):c.647dup (p.Leu216fs)
|
|
|
NM_007194.4(CHEK2):c.649del (p.Arg217fs)
|
|
|
NM_007194.4(CHEK2):c.64del (p.His22fs)
|
rs2054335480
|
|
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)
|
rs1601805632
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.656_657del (p.Glu219fs)
|
|
|
NM_007194.4(CHEK2):c.658dup (p.Tyr220fs)
|
rs2146005603
|
|
NM_007194.4(CHEK2):c.659_662del (p.Tyr220fs)
|
rs2053691104
|
|
NM_007194.4(CHEK2):c.660C>G (p.Tyr220Ter)
|
|
|
NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs)
|
rs2146005334
|
|
NM_007194.4(CHEK2):c.663del (p.Met222fs)
|
|
|
NM_007194.4(CHEK2):c.664_676del (p.Met222fs)
|
rs2146004773
|
|
NM_007194.4(CHEK2):c.664del (p.Met222fs)
|
rs2146005256
|
|
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
|
|
|
NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer)
|
rs2146005039
|
|
NM_007194.4(CHEK2):c.669_679del (p.Thr225fs)
|
|
|
NM_007194.4(CHEK2):c.673del (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs)
|
rs2146157133
|
|
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs)
|
rs1601783879
|
|
NM_007194.4(CHEK2):c.706del (p.Leu236fs)
|
rs1555921290
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.716del (p.Glu239fs)
|
|
|
NM_007194.4(CHEK2):c.718del (p.Arg240fs)
|
rs2145951649
|
|
NM_007194.4(CHEK2):c.720_736del (p.Arg240fs)
|
|
|
NM_007194.4(CHEK2):c.721A>T (p.Lys241Ter)
|
|
|
NM_007194.4(CHEK2):c.724del (p.Thr242fs)
|
rs2145951385
|
|
NM_007194.4(CHEK2):c.725del (p.Thr242fs)
|
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
NM_007194.4(CHEK2):c.728_729del (p.Thr242_Cys243insTer)
|
|
|
NM_007194.4(CHEK2):c.72_81del (p.Val25fs)
|
|
|
NM_007194.4(CHEK2):c.72dup (p.Val25fs)
|
|
|
NM_007194.4(CHEK2):c.731dup (p.Lys245fs)
|
|
|
NM_007194.4(CHEK2):c.732_733del (p.Lys245fs)
|
|
|
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter)
|
rs1601783375
|
|
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer)
|
rs2053412352
|
|
NM_007194.4(CHEK2):c.737_782dup (p.Arg262fs)
|
rs2145949099
|
|
NM_007194.4(CHEK2):c.739_751del (p.Ala247fs)
|
|
|
NM_007194.4(CHEK2):c.743dup (p.Ile250fs)
|
rs2145950548
|
|
NM_007194.4(CHEK2):c.750del (p.Ile251fs)
|
rs2145950251
|
|
NM_007194.4(CHEK2):c.756del (p.Ser252fs)
|
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.760del (p.Arg254fs)
|
rs2145949827
|
|
NM_007194.4(CHEK2):c.762del (p.Lys255fs)
|
rs1131691044
|
|
NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter)
|
rs2053408810
|
|
NM_007194.4(CHEK2):c.768dup (p.Ala257fs)
|
rs2145949535
|
|
NM_007194.4(CHEK2):c.774_775del (p.Ile258fs)
|
rs2145949378
|
|
NM_007194.4(CHEK2):c.776del (p.Gly259fs)
|
rs2053407842
|
|
NM_007194.4(CHEK2):c.776dup (p.Ser260fs)
|
rs2053407842
|
|
NM_007194.4(CHEK2):c.777_780dup (p.Ala261fs)
|
|
|
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter)
|
rs1060502710
|
|
NM_007194.4(CHEK2):c.779del (p.Gly259_Ser260insTer)
|
rs2145949157
|
|
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs)
|
rs1060502687
|
|
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter)
|
rs730881686
|
|
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs)
|
rs2145948828
|
|
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs)
|
rs1601853585
|
|
NM_007194.4(CHEK2):c.793-15T>G
|
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.79del (p.Gln27fs)
|
rs2146153237
|
|
NM_007194.4(CHEK2):c.803_804del (p.Leu268fs)
|
rs2053336290
|
|
NM_007194.4(CHEK2):c.806_807del (p.Asn269fs)
|
rs2053335818
|
|
NM_007194.4(CHEK2):c.808del (p.Val270fs)
|
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.820dup (p.Ile274fs)
|
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.82del (p.Ser28fs)
|
rs2146153089
|
|
NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter)
|
rs1555920150
|
|
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
|
|
|
NM_007194.4(CHEK2):c.836del (p.Lys279fs)
|
rs1555920142
|
|
NM_007194.4(CHEK2):c.842dup (p.Asn281fs)
|
rs2053330207
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.850del (p.Cys284fs)
|
|
|
NM_007194.4(CHEK2):c.851del (p.Cys284fs)
|
|
|
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)
|
rs1555917031
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
|
|
|
NM_007194.4(CHEK2):c.869del (p.Asn290fs)
|
rs1422634212
|
|
NM_007194.4(CHEK2):c.870_871insCTAC (p.Phe291fs)
|
rs2052980434
|
|
NM_007194.4(CHEK2):c.870del (p.Phe292fs)
|
rs1555916987
|
|
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.877del (p.Asp293fs)
|
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
NM_007194.4(CHEK2):c.892del (p.Tyr298fs)
|
rs2145877300
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.893dup (p.Tyr298Ter)
|
|
|
NM_007194.4(CHEK2):c.894T>A (p.Tyr298Ter)
|
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
NM_007194.4(CHEK2):c.894dup (p.Ile299fs)
|
|
|
NM_007194.4(CHEK2):c.897del (p.Ile299fs)
|
|
|
NM_007194.4(CHEK2):c.898del (p.Val300fs)
|
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
|
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter)
|
rs1555915533
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.919_940del (p.Gly307fs)
|
rs2145844027
|
|
NM_007194.4(CHEK2):c.920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.921del (p.Glu308fs)
|
|
|
NM_007194.4(CHEK2):c.926dup (p.Phe310fs)
|
|
|
NM_007194.4(CHEK2):c.938del (p.Val313fs)
|
rs2052766776
|
|
NM_007194.4(CHEK2):c.945del (p.Asn316fs)
|
rs2052765649
|
|
NM_007194.4(CHEK2):c.948del (p.Asn316fs)
|
rs2052765413
|
|
NM_007194.4(CHEK2):c.94del (p.Ser32fs)
|
rs2146152456
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
NM_007194.4(CHEK2):c.956del (p.Leu319fs)
|
|
|
NM_007194.4(CHEK2):c.963del (p.Ala322fs)
|
rs2052762437
|
|
NM_007194.4(CHEK2):c.968_969del (p.Thr323fs)
|
rs2145842905
|
|
NM_007194.4(CHEK2):c.974del (p.Lys325fs)
|
rs1555915409
|
|
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs)
|
rs1555915392
|
|
NM_007194.4(CHEK2):c.985del (p.Tyr329fs)
|
rs1569121048
|
|
NM_007194.4(CHEK2):c.987C>A (p.Tyr329Ter)
|
|
|
NM_007194.4(CHEK2):c.987C>G (p.Tyr329Ter)
|
|
|
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
|
rs768973809
|
|
NM_007194.4(CHEK2):c.989del (p.Gln330fs)
|
rs2052759328
|
|
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter)
|
rs2054331180
|
|
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
|
|
|
NM_007194.4(CHEK2):c.990del (p.Met331fs)
|
rs1601738338
|
|
NM_007194.4(CHEK2):c.995del (p.Leu332fs)
|
rs2052758032
|
|
NM_007194.4(CHEK2):c.996_1006del (p.Leu333fs)
|
rs2145841388
|
|
NM_007194.4(CHEK2):c.998T>A (p.Leu333Ter)
|
rs2145841647
|
|
NM_007194.4(CHEK2):c.99del (p.Gln34fs)
|
|
|
NM_024675.3(PALB2):c.-200_3113+?del
|
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs)
|
rs1555460682
|
|
NM_024675.3(PALB2):c.3114-?_*(1_?)del
|
|
|
NM_024675.3(PALB2):c.3114-?_3201+?del
|
|
|
NM_024675.3(PALB2):c.3202-?_3350+?del
|
|
|
NM_024675.3(PALB2):c.3351-?_*(1_?)del
|
|
|
NM_024675.3(PALB2):c.3351-?_*297del
|
|
|
NM_024675.4(PALB2):c.-4_15del (p.Met1fs)
|
|
|
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter)
|
rs1967002667
|
|
NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter)
|
rs45494092
|
|
NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter)
|
rs45494092
|
|
NM_024675.4(PALB2):c.1010del (p.Leu337fs)
|
rs1967002076
|
|
NM_024675.4(PALB2):c.1013del (p.Pro338fs)
|
|
|
NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter)
|
rs2142428256
|
|
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)
|
rs180177097
|
|
NM_024675.4(PALB2):c.1031del (p.Asn344fs)
|
rs1485260432
|
|
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)
|
rs1555461488
|
|
NM_024675.4(PALB2):c.1037_1038del (p.Lys346fs)
|
rs1597097438
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1038del (p.Glu347fs)
|
rs1597097438
|
|
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)
|
rs1567221761
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1042del (p.Gln348fs)
|
rs1597097408
|
|
NM_024675.4(PALB2):c.1046del (p.Asn349fs)
|
rs1555461484
|
|
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)
|
rs1060499813
|
|
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter)
|
rs1060502788
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.1056_1065del (p.Lys353fs)
|
rs2142426926
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.1061del (p.Ser354fs)
|
|
|
NM_024675.4(PALB2):c.1065_1069del (p.Leu355fs)
|
rs2142426807
|
|
NM_024675.4(PALB2):c.1067_1068insTA (p.Lys356fs)
|
rs1064795168
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1071_1072del (p.Pro358fs)
|
rs1555461467
|
|
NM_024675.4(PALB2):c.1078_1084del (p.Asp360fs)
|
rs2142426385
|
|
NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer)
|
rs1597097182
|
|
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs)
|
rs786203399
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
NM_024675.4(PALB2):c.109-2A>G
|
rs730881897
|
|
NM_024675.4(PALB2):c.1103_1110del (p.Asn368fs)
|
|
|
NM_024675.4(PALB2):c.1106_1116del (p.Leu369fs)
|
rs2142425504
|
|
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)
|
rs587776411
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter)
|
rs1597097072
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
NM_024675.4(PALB2):c.1133del (p.Pro378fs)
|
|
|
NM_024675.4(PALB2):c.1138_1139del (p.Ser380_Leu381insTer)
|
rs1567221521
|
|
NM_024675.4(PALB2):c.1138_1148del (p.Ser380fs)
|
|
|
NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs)
|
rs2142424706
|
|
NM_024675.4(PALB2):c.1152del (p.Ala385fs)
|
rs1567221493
|
|
NM_024675.4(PALB2):c.1156del (p.Thr386fs)
|
rs1597096949
|
|
NM_024675.4(PALB2):c.1156dup (p.Thr386fs)
|
rs1597096949
|
|
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)
|
rs876659319
|
|
NM_024675.4(PALB2):c.1161del (p.Pro388fs)
|
rs1966989564
|
|
NM_024675.4(PALB2):c.1163dup (p.Leu389fs)
|
rs869312772
|
|
NM_024675.4(PALB2):c.1168dup (p.Ser390fs)
|
rs1966988658
|
|
NM_024675.4(PALB2):c.1170del (p.Ala391fs)
|
rs2142423901
|
|
NM_024675.4(PALB2):c.1179dup (p.His394fs)
|
rs1567221417
|
|
NM_024675.4(PALB2):c.1183del (p.Ser395fs)
|
rs1555461415
|
|
NM_024675.4(PALB2):c.1186dup (p.Cys396fs)
|
rs1555461413
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1206del (p.Leu403fs)
|
rs876658431
|
|
NM_024675.4(PALB2):c.1209_1224del (p.Phe404fs)
|
|
|
NM_024675.4(PALB2):c.1212del (p.Pro405fs)
|
|
|
NM_024675.4(PALB2):c.1212dup (p.Pro405fs)
|
rs1567221328
|
|
NM_024675.4(PALB2):c.1216del (p.Ala406fs)
|
rs876659741
|
|
NM_024675.4(PALB2):c.1217_1218insTT (p.Ala406_Glu407insTer)
|
|
|
NM_024675.4(PALB2):c.1223_1224dup (p.Tyr409fs)
|
rs2142422279
|
|
NM_024675.4(PALB2):c.1226dup (p.Tyr409Ter)
|
rs1966983494
|
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer)
|
rs1555461385
|
|
NM_024675.4(PALB2):c.1234del (p.Thr412fs)
|
|
|
NM_024675.4(PALB2):c.1248del (p.Met416fs)
|
rs1966981959
|
|
NM_024675.4(PALB2):c.1263del (p.Lys422_Val423insTer)
|
rs2142421147
|
|
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)
|
rs1555461366
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
NM_024675.4(PALB2):c.1291_1292del (p.His432fs)
|
rs786203057
|
|
NM_024675.4(PALB2):c.12dup (p.Pro5fs)
|
rs879254062
|
|
NM_024675.4(PALB2):c.1314dup (p.Gly439fs)
|
rs515726065
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
NM_024675.4(PALB2):c.1317dup (p.Phe440fs)
|
rs515726067
|
|
NM_024675.4(PALB2):c.1319_1320insSVAelement
|
|
|
NM_024675.4(PALB2):c.1320dup (p.Lys441Ter)
|
rs2142419403
|
|
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)
|
rs1555461339
|
|
NM_024675.4(PALB2):c.1342_1343insTAAAAATTTAAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCACATGCACAGGACAACCAAGTTCAANNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAGGATGCAA (p.Ser448delinsIleLysIleTer)
|
rs2142418871
|
|
NM_024675.4(PALB2):c.1342del (p.Ser448fs)
|
|
|
NM_024675.4(PALB2):c.1343del (p.Ser448fs)
|
|
|
NM_024675.4(PALB2):c.1352T>G (p.Leu451Ter)
|
rs1966974831
|
|
NM_024675.4(PALB2):c.1352dup (p.Leu451fs)
|
rs1597096326
|
|
NM_024675.4(PALB2):c.1359_1360insGT (p.Ser454fs)
|
rs2142418386
|
|
NM_024675.4(PALB2):c.1360del (p.Ser454fs)
|
|
|
NM_024675.4(PALB2):c.1362del (p.Asn455fs)
|
rs1555461323
|
|
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)
|
rs1060502785
|
|
NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter)
|
rs878855099
|
|
NM_024675.4(PALB2):c.136_148del (p.His46fs)
|
rs2142457035
|
|
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)
|
rs876658166
|
|
NM_024675.4(PALB2):c.1378_1379inv (p.Gln460Ter)
|
|
|
NM_024675.4(PALB2):c.1382del (p.Ser461fs)
|
|
|
NM_024675.4(PALB2):c.1386_1390dup (p.Arg464fs)
|
rs2142417496
|
|
NM_024675.4(PALB2):c.1392del (p.Met465fs)
|
|
|
NM_024675.4(PALB2):c.1397_1399delinsT (p.Ser466fs)
|
|
|
NM_024675.4(PALB2):c.1400del (p.Gly467fs)
|
|
|
NM_024675.4(PALB2):c.1408del (p.Thr470fs)
|
rs2142416902
|
|
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)
|
rs886039479
|
|
NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer)
|
rs1555461295
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
NM_024675.4(PALB2):c.1426del (p.Arg476fs)
|
rs1184981956
|
|
NM_024675.4(PALB2):c.1427dup (p.Thr477fs)
|
rs2142416277
|
|
NM_024675.4(PALB2):c.1429del (p.Thr477fs)
|
rs1555461287
|
|
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
|
|
|
NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter)
|
rs1060502761
|
|
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)
|
rs1555461280
|
|
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)
|
rs1057520653
|
|
NM_024675.4(PALB2):c.1440del (p.Lys480fs)
|
rs1555461278
|
|
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs)
|
rs1966967463
|
|
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)
|
rs1057520736
|
|
NM_024675.4(PALB2):c.1450_1453dup (p.Thr485fs)
|
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs)
|
rs2142415370
|
|
NM_024675.4(PALB2):c.1467_1468del (p.Pro490fs)
|
rs879253960
|
|
NM_024675.4(PALB2):c.1468_1470delinsTTAACTAAAGTCA (p.Pro490fs)
|
rs1966964908
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)
|
rs886039620
|
|
NM_024675.4(PALB2):c.1529_1535del (p.Arg510fs)
|
|
|
NM_024675.4(PALB2):c.1535dup (p.Tyr512Ter)
|
rs1966959467
|
|
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)
|
rs1567220802
|
|
NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)
|
|
|
NM_024675.4(PALB2):c.1538del (p.Thr513fs)
|
rs879253892
|
|
NM_024675.4(PALB2):c.1541del (p.Gly514fs)
|
|
|
NM_024675.4(PALB2):c.1546del (p.Arg516fs)
|
rs587781560
|
|
NM_024675.4(PALB2):c.1546dup (p.Arg516fs)
|
rs587781560
|
|
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs)
|
rs2142412914
|
|
NM_024675.4(PALB2):c.1549A>T (p.Lys517Ter)
|
|
|
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1565del (p.Pro522fs)
|
rs1555461217
|
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
rs587776413
|
|
NM_024675.4(PALB2):c.1575del (p.His526fs)
|
rs2142412137
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1597del (p.Thr533fs)
|
rs2142411591
|
|
NM_024675.4(PALB2):c.1613_1619del (p.Ile538fs)
|
rs1966952995
|
|
NM_024675.4(PALB2):c.1619dup (p.Asn540fs)
|
rs1555461192
|
|
NM_024675.4(PALB2):c.1627_1639delinsTT (p.Lys543fs)
|
|
|
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter)
|
rs1241049372
|
|
NM_024675.4(PALB2):c.1647del (p.His549fs)
|
|
|
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)
|
rs1555461178
|
|
NM_024675.4(PALB2):c.1650del (p.Lys550fs)
|
rs886039624
|
|
NM_024675.4(PALB2):c.1652_1653del (p.Tyr551fs)
|
rs2142410052
|
|
NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter)
|
rs1555461176
|
|
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)
|
rs118203997
|
|
NM_024675.4(PALB2):c.1671_1676delinsCG (p.Ile558fs)
|
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1692_1693del (p.Arg566fs)
|
|
|
NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter)
|
rs876659354
|
|
NM_024675.4(PALB2):c.1702del (p.Gln568fs)
|
|
|
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)
|
rs1060502759
|
|
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs)
|
rs1060502759
|
|
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)
|
rs1597091425
|
|
NM_024675.4(PALB2):c.1723del (p.Trp575fs)
|
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)
|
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1731_1732insC (p.Ser578fs)
|
|
|
NM_024675.4(PALB2):c.1735_1736dup (p.Tyr580fs)
|
rs2142390444
|
|
NM_024675.4(PALB2):c.173dup (p.Leu58fs)
|
rs2142456344
|
|
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs)
|
rs1555460671
|
|
NM_024675.4(PALB2):c.1742del (p.Leu581fs)
|
rs1060502803
|
|
NM_024675.4(PALB2):c.1751del (p.Asp584fs)
|
rs1966866862
|
|
NM_024675.4(PALB2):c.1753del (p.Asp585fs)
|
rs1555460670
|
|
NM_024675.4(PALB2):c.1758del (p.Asp586fs)
|
rs2142389968
|
|
NM_024675.4(PALB2):c.1759del (p.Ala587fs)
|
rs2142389921
|
|
NM_024675.4(PALB2):c.1765_1771del (p.Thr589fs)
|
rs1597091247
|
|
NM_024675.4(PALB2):c.1776dup (p.His593fs)
|
rs1597091230
|
|
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter)
|
rs1966866081
|
|
NM_024675.4(PALB2):c.1789del (p.Met597fs)
|
rs1555460650
|
|
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)
|
rs886039747
|
|
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter)
|
rs1966865838
|
|
NM_024675.4(PALB2):c.179_189del (p.Gln60fs)
|
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
NM_024675.4(PALB2):c.1807del (p.Leu603fs)
|
rs2142388816
|
|
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs)
|
rs1060499818
|
|
NM_024675.4(PALB2):c.181C>T (p.Gln61Ter)
|
rs1967100637
|
|
NM_024675.4(PALB2):c.1823_1824del (p.Ser608fs)
|
|
|
NM_024675.4(PALB2):c.1824dup (p.Ile609fs)
|
rs1966865368
|
|
NM_024675.4(PALB2):c.1828del (p.Thr610fs)
|
|
|
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter)
|
rs1966865214
|
|
NM_024675.4(PALB2):c.1845del (p.Asp616fs)
|
rs1555460627
|
|
NM_024675.4(PALB2):c.1857del (p.Phe619fs)
|
rs1966864847
|
|
NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)
|
|
|
NM_024675.4(PALB2):c.185del (p.Asp62fs)
|
|
|
NM_024675.4(PALB2):c.1872_1891del (p.Glu625fs)
|
rs1966864164
|
|
NM_024675.4(PALB2):c.1873del (p.Glu625fs)
|
rs1555460609
|
|
NM_024675.4(PALB2):c.1880_1881del (p.Val627fs)
|
rs1597090903
|
|
NM_024675.4(PALB2):c.1881del (p.Lys628fs)
|
|
|
NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter)
|
rs1597090894
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1911del (p.Phe638fs)
|
rs2142386226
|
|
NM_024675.4(PALB2):c.1914del (p.Phe638fs)
|
rs1555460593
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
NM_024675.4(PALB2):c.192_193del (p.Pro65fs)
|
rs2142455866
|
|
NM_024675.4(PALB2):c.1937_1938dup (p.His647fs)
|
rs1555460584
|
|
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)
|
rs1555460579
|
|
NM_024675.4(PALB2):c.1958_1959insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAAGCTG (p.Cys653fs)
|
rs2142385006
|
|
NM_024675.4(PALB2):c.1959_1966del (p.Ile654fs)
|
|
|
NM_024675.4(PALB2):c.1965del (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1965dup (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)
|
rs786204129
|
|
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)
|
rs1966862408
|
|
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter)
|
rs1555460542
|
|
NM_024675.4(PALB2):c.1972del (p.Glu658fs)
|
rs1555460548
|
|
NM_024675.4(PALB2):c.1976_1977del (p.Leu659fs)
|
rs2142384476
|
|
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)
|
rs1555460533
|
|
NM_024675.4(PALB2):c.1988dup (p.Met664fs)
|
rs1966862297
|
|
NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs)
|
rs2142384044
|
|
NM_024675.4(PALB2):c.1990del (p.Met664fs)
|
rs1966862226
|
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
rs879254144
|
|
NM_024675.4(PALB2):c.2005del (p.Glu669fs)
|
|
|
NM_024675.4(PALB2):c.2006del (p.Glu669fs)
|
rs587778584
|
|
NM_024675.4(PALB2):c.2014G>T (p.Glu672Ter)
|
rs45532440
|
|
NM_024675.4(PALB2):c.2014del (p.Glu672fs)
|
rs1966861952
|
|
NM_024675.4(PALB2):c.2016dup (p.Glu673fs)
|
rs1966861906
|
|
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)
|
rs2142383242
|
|
NM_024675.4(PALB2):c.2020del (p.Asp674fs)
|
rs1966861838
|
|
NM_024675.4(PALB2):c.2026dup (p.Ile676fs)
|
rs2142383088
|
|
NM_024675.4(PALB2):c.2032del (p.Leu678fs)
|
rs730881866
|
|
NM_024675.4(PALB2):c.2036del (p.Pro679fs)
|
rs2142382796
|
|
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
|
|
|
NM_024675.4(PALB2):c.2041A>T (p.Lys681Ter)
|
rs2142382651
|
|
NM_024675.4(PALB2):c.2043del (p.Lys681fs)
|
|
|
NM_024675.4(PALB2):c.2043dup (p.Ser682fs)
|
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2056del (p.Arg686fs)
|
rs1060502771
|
|
NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter)
|
rs2142382015
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
NM_024675.4(PALB2):c.2079del (p.His693fs)
|
rs878855105
|
|
NM_024675.4(PALB2):c.2092del (p.Leu698fs)
|
rs1060499819
|
|
NM_024675.4(PALB2):c.209C>G (p.Ser70Ter)
|
rs763745734
|
|
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs)
|
rs1555460490
|
|
NM_024675.4(PALB2):c.2105dup (p.Leu703fs)
|
rs2142381049
|
|
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)
|
rs2142380816
|
|
NM_024675.4(PALB2):c.212-1G>A
|
rs1597099910
|
|
NM_024675.4(PALB2):c.212-2A>C
|
rs730881879
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.2133del (p.Ala712fs)
|
|
|
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs)
|
rs515726081
|
|
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs)
|
rs1555460465
|
|
NM_024675.4(PALB2):c.2161del (p.Thr721fs)
|
rs1597089904
|
|
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)
|
rs1597089845
|
|
NM_024675.4(PALB2):c.2186_2187del (p.Pro729fs)
|
rs1567217908
|
|
NM_024675.4(PALB2):c.2187del (p.Ile730fs)
|
rs1567217908
|
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
rs1567217898
|
|
NM_024675.4(PALB2):c.2205del (p.Ala736fs)
|
rs587782892
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)
|
rs1555460442
|
|
NM_024675.4(PALB2):c.2220del (p.Gly741fs)
|
rs1597089741
|
|
NM_024675.4(PALB2):c.2222del (p.Gly741fs)
|
rs2142377985
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)
|
rs1555460431
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)
|
rs1555460423
|
|
NM_024675.4(PALB2):c.2255del (p.Gly752fs)
|
rs2142377240
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2278del (p.Ala761fs)
|
|
|
NM_024675.4(PALB2):c.2281_2287del (p.Leu760_Ala761insTer)
|
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
NM_024675.4(PALB2):c.2295del (p.Ser766fs)
|
rs1597089469
|
|
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)
|
rs876658170
|
|
NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)
|
|
|
NM_024675.4(PALB2):c.2297del (p.Asp765_Ser766insTer)
|
|
|
NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)
|
rs1597089434
|
|
NM_024675.4(PALB2):c.2298dup (p.Val767fs)
|
rs1555460407
|
|
NM_024675.4(PALB2):c.2317dup (p.Thr773fs)
|
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.2328del (p.Phe776fs)
|
rs1966857445
|
|
NM_024675.4(PALB2):c.232_233del (p.Val78fs)
|
rs776284609
|
|
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)
|
rs1833331932
|
|
NM_024675.4(PALB2):c.2352dup (p.Pro785fs)
|
|
|
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)
|
rs2142374907
|
|
NM_024675.4(PALB2):c.2359dup (p.Thr787fs)
|
rs2142374794
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.2369_2372del (p.Gln790fs)
|
rs1966856962
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
NM_024675.4(PALB2):c.2382_2383delinsTT (p.Arg794_Gln795delinsSerTer)
|
rs2142374295
|
|
NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter)
|
rs1966856854
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs)
|
rs1966856749
|
|
NM_024675.4(PALB2):c.2400T>A (p.Cys800Ter)
|
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer)
|
rs1966856585
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter)
|
rs1064795507
|
|
NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs)
|
|
|
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)
|
rs1555460334
|
|
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)
|
rs1555460325
|
|
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)
|
rs1555460323
|
|
NM_024675.4(PALB2):c.2470del (p.Cys824fs)
|
rs876658348
|
|
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)
|
rs863224521
|
|
NM_024675.4(PALB2):c.2476_2477dup (p.Asn826fs)
|
|
|
NM_024675.4(PALB2):c.2479del (p.Thr827fs)
|
rs1597088811
|
|
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)
|
rs1555460315
|
|
NM_024675.4(PALB2):c.2480del (p.Thr827fs)
|
|
|
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)
|
rs1966855759
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
NM_024675.4(PALB2):c.2498_2505del (p.Lys833fs)
|
|
|
NM_024675.4(PALB2):c.249del (p.His83fs)
|
|
|
NM_024675.4(PALB2):c.24_25del (p.Leu9fs)
|
rs2142481327
|
|
NM_024675.4(PALB2):c.2506dup (p.Val836fs)
|
rs1966855544
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2512_2513del (p.Gln838fs)
|
|
|
NM_024675.4(PALB2):c.2521del (p.Thr841fs)
|
rs180177116
|
|
NM_024675.4(PALB2):c.2527_2548del (p.Ala842_Glu843insTer)
|
rs2142368508
|
|
NM_024675.4(PALB2):c.2549del (p.Ile850fs)
|
rs2142368459
|
|
NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)
|
rs1597088146
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
NM_024675.4(PALB2):c.2576_2577del (p.Val858_Ser859insTer)
|
|
|
NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)
|
|
|
NM_024675.4(PALB2):c.2582T>G (p.Leu861Ter)
|
|
|
NM_024675.4(PALB2):c.2585del (p.Lys862fs)
|
rs752513498
|
|
NM_024675.4(PALB2):c.2586+1G>A
|
|
|
NM_024675.4(PALB2):c.2586+1G>T
|
rs1375713365
|
|
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)
|
rs746604683
|
|
NM_024675.4(PALB2):c.2597del (p.Gly866fs)
|
rs786204156
|
|
NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer)
|
rs1966842803
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2607dup (p.Val870fs)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)
|
rs876660678
|
|
NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs)
|
rs2142355316
|
|
NM_024675.4(PALB2):c.2631G>A (p.Trp877Ter)
|
rs2142355636
|
|
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)
|
rs1555459999
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter)
|
rs1304351755
|
|
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)
|
rs78179744
|
|
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)
|
rs45476495
|
|
NM_024675.4(PALB2):c.2686del (p.Ser896fs)
|
rs1555459954
|
|
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)
|
rs876658983
|
|
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter)
|
rs1555459949
|
|
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter)
|
rs1060502726
|
|
NM_024675.4(PALB2):c.2711_2712delinsAA (p.Trp904Ter)
|
|
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
rs587781457
|
|
NM_024675.4(PALB2):c.2716del (p.Trp906fs)
|
rs1966842388
|
|
NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)
|
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2719del (p.Glu907fs)
|
rs1555459934
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2728del (p.Tyr910fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)
|
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
NM_024675.4(PALB2):c.2742del (p.Phe914fs)
|
rs1966842281
|
|
NM_024675.4(PALB2):c.2747_2748+4del
|
rs786203892
|
|
NM_024675.4(PALB2):c.2748+1G>A
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>C
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.274dup (p.Thr92fs)
|
rs1567223192
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
NM_024675.4(PALB2):c.2760dup (p.Gln921fs)
|
rs876660147
|
|
NM_024675.4(PALB2):c.2762del (p.Gln921fs)
|
rs1567214484
|
|
NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs)
|
rs1597082866
|
|
NM_024675.4(PALB2):c.2771del (p.Pro924fs)
|
rs2142344237
|
|
NM_024675.4(PALB2):c.2773del (p.Val925fs)
|
rs1597082860
|
|
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer)
|
rs587776418
|
|
NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs)
|
rs587776418
|
|
NM_024675.4(PALB2):c.2800_2801del (p.Val934fs)
|
rs2142343437
|
|
NM_024675.4(PALB2):c.2818del (p.Glu940fs)
|
rs1555459709
|
|
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
|
|
|
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)
|
rs1224428422
|
|
NM_024675.4(PALB2):c.2832del (p.Arg945fs)
|
rs1060499823
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>C
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
NM_024675.4(PALB2):c.2834+2T>G
|
rs864622481
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs)
|
rs1597081571
|
|
NM_024675.4(PALB2):c.284dup (p.Thr96fs)
|
rs1555461846
|
|
NM_024675.4(PALB2):c.2850del (p.Ser951fs)
|
rs1060499824
|
|
NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter)
|
rs879254015
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter)
|
rs515726103
|
|
NM_024675.4(PALB2):c.2870del (p.Lys957fs)
|
|
|
NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter)
|
rs1567213829
|
|
NM_024675.4(PALB2):c.2876_2877dup (p.Leu960fs)
|
rs2142337034
|
|
NM_024675.4(PALB2):c.2876dup (p.Leu960fs)
|
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024675.4(PALB2):c.290dup (p.Ile98fs)
|
rs1967057527
|
|
NM_024675.4(PALB2):c.2915del (p.Leu972fs)
|
rs1555459553
|
|
NM_024675.4(PALB2):c.2919_2920insG (p.Lys974fs)
|
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs)
|
rs786204122
|
|
NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs)
|
rs1966801432
|
|
NM_024675.4(PALB2):c.2931dup (p.Val978fs)
|
rs587782570
|
|
NM_024675.4(PALB2):c.2936del (p.Ser979fs)
|
rs1060502781
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.2950del (p.Leu984fs)
|
rs1966800194
|
|
NM_024675.4(PALB2):c.2953del (p.Ser985fs)
|
rs1597081202
|
|
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)
|
rs875989792
|
|
NM_024675.4(PALB2):c.295dup (p.Thr99fs)
|
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.2966del (p.Val989fs)
|
rs2142334934
|
|
NM_024675.4(PALB2):c.2966dup (p.Glu990fs)
|
rs2142334914
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
NM_024675.4(PALB2):c.2992G>T (p.Gly998Ter)
|
|
|
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
|
|
|
NM_024675.4(PALB2):c.2999del (p.Gly1000fs)
|
rs1966773290
|
|
NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
rs756519825
|
|
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
|
|
|
NM_024675.4(PALB2):c.3003del (p.Glu1002fs)
|
|
|
NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)
|
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
NM_024675.4(PALB2):c.3008dup (p.Asn1003fs)
|
rs1567213009
|
|
NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
|
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
NM_024675.4(PALB2):c.3026del (p.Pro1009fs)
|
rs180177131
|
|
NM_024675.4(PALB2):c.3027del (p.Glu1010fs)
|
rs876659378
|
|
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter)
|
rs1966771907
|
|
NM_024675.4(PALB2):c.3038_3039del (p.Ile1013fs)
|
rs1597079810
|
|
NM_024675.4(PALB2):c.3041dup (p.Thr1015fs)
|
rs1966771199
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3050dup (p.Ala1017_Glu1018insTer)
|
|
|
NM_024675.4(PALB2):c.3052del (p.Glu1018fs)
|
rs2142327301
|
|
NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)
|
rs2142327117
|
|
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
|
NM_024675.4(PALB2):c.3077dup (p.Leu1027fs)
|
|
|
NM_024675.4(PALB2):c.3081del (p.Gly1028fs)
|
rs2142326602
|
|
NM_024675.4(PALB2):c.3083_3084insGCTCTGCTTGGGTGCCGGCGAGCGCCGCCTGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCCGCCTGNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Gly1028_Thr1029insLeuCysLeuGlyAlaGlyGluArgArgLeuGlyGlySerGlyTrpArgSerGlyArgAlaProArgGlyProArgAlaArgSerSerArgLeuXaaXaaXaaXaaXaaLysLysLysLysLysLysLysAsn)
|
rs2142326522
|
|
NM_024675.4(PALB2):c.3108_3112del (p.Ile1037fs)
|
rs2142325956
|
|
NM_024675.4(PALB2):c.3114-239A>T
|
|
|
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)
|
rs778345761
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)
|
rs1555458828
|
|
NM_024675.4(PALB2):c.3126del (p.Gly1043fs)
|
rs1966637056
|
|
NM_024675.4(PALB2):c.3129dup (p.Gln1044fs)
|
rs1567209922
|
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
|
|
NM_024675.4(PALB2):c.314_315del (p.Glu105fs)
|
rs1967055393
|
|
NM_024675.4(PALB2):c.3150_3151del (p.His1050_Ile1051insTer)
|
|
|
NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs)
|
rs1555458815
|
|
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter)
|
rs1567209835
|
|
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)
|
rs876658157
|
|
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
rs1021662947
|
|
NM_024675.4(PALB2):c.3174dup (p.Val1059fs)
|
|
|
NM_024675.4(PALB2):c.3179_3180insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNTTTATTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGAAGCTTCAGTCTGG (p.Cys1060fs)
|
|
|
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
rs2142298948
|
|
NM_024675.4(PALB2):c.3186del (p.Ala1063fs)
|
rs869312774
|
|
NM_024675.4(PALB2):c.318del (p.Phe107fs)
|
rs1967055062
|
|
NM_024675.4(PALB2):c.3193dup (p.Ser1065fs)
|
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
|
NM_024675.4(PALB2):c.3228del (p.Cys1078fs)
|
rs1555458223
|
|
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
rs886039634
|
|
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs)
|
rs879254060
|
|
NM_024675.4(PALB2):c.3242_3245del (p.Glu1081fs)
|
|
|
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
|
|
NM_024675.4(PALB2):c.3247_3248insT (p.Glu1083fs)
|
|
|
NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs)
|
rs1966510953
|
|
NM_024675.4(PALB2):c.3249_3258del (p.Ser1084fs)
|
rs2142273197
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
NM_024675.4(PALB2):c.3263del (p.Pro1088fs)
|
rs1966509881
|
|
NM_024675.4(PALB2):c.3267_3268del (p.Phe1090fs)
|
rs587781890
|
|
NM_024675.4(PALB2):c.326del (p.Pro109fs)
|
rs2142445986
|
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
|
NM_024675.4(PALB2):c.3272dup (p.Leu1092fs)
|
|
|
NM_024675.4(PALB2):c.3285delinsGTTAATG (p.Ile1095delinsMetLeuMet)
|
|
|
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
|
NM_024675.4(PALB2):c.3293_3296dup (p.Thr1100fs)
|
|
|
NM_024675.4(PALB2):c.3295_3310delinsCGTGGT (p.Thr1099fs)
|
rs1966506715
|
|
NM_024675.4(PALB2):c.3296del (p.Thr1099fs)
|
rs1966508003
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs)
|
rs1567206813
|
|
NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs)
|
|
|
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)
|
rs1555458187
|
|
NM_024675.4(PALB2):c.3302_3303del (p.Leu1101fs)
|
rs1567206804
|
|
NM_024675.4(PALB2):c.3302_3306dup (p.Val1103fs)
|
|
|
NM_024675.4(PALB2):c.3305_3306insACGCTCAG (p.Ser1102fs)
|
rs2142272095
|
|
NM_024675.4(PALB2):c.3323_3327del (p.Tyr1108fs)
|
|
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
|
NM_024675.4(PALB2):c.3332del (p.Pro1111fs)
|
rs1597066595
|
|
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
rs1567206756
|
|
NM_024675.4(PALB2):c.3350+1G>A
|
rs864622192
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
NM_024675.4(PALB2):c.3351-1G>A
|
rs1597062406
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs)
|
rs876660574
|
|
NM_024675.4(PALB2):c.3386_3399dup (p.Ser1134delinsGlnGlnSerTer)
|
|
|
NM_024675.4(PALB2):c.338del (p.Pro113fs)
|
rs1555461825
|
|
NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs)
|
rs876660492
|
|
NM_024675.4(PALB2):c.3407del (p.Thr1136fs)
|
|
|
NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter)
|
rs878855118
|
|
NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter)
|
rs1555457878
|
|
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter)
|
rs1555457878
|
|
NM_024675.4(PALB2):c.3425del (p.Leu1142fs)
|
rs1057517563
|
|
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs)
|
rs587776424
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
NM_024675.4(PALB2):c.3432del (p.Gly1145fs)
|
|
|
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)
|
rs879254033
|
|
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter)
|
rs1597099523
|
|
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)
|
rs1555457867
|
|
NM_024675.4(PALB2):c.3455del (p.Pro1152fs)
|
rs1597062083
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer)
|
rs2142253220
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
NM_024675.4(PALB2):c.3475del (p.Trp1159fs)
|
rs2142252950
|
|
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)
|
rs1597061983
|
|
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)
|
rs876660465
|
|
NM_024675.4(PALB2):c.3483del (p.Phe1161fs)
|
rs2142252781
|
|
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)
|
rs879254113
|
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
rs587782217
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
NM_024675.4(PALB2):c.3494dup (p.Thr1167fs)
|
rs2142252484
|
|
NM_024675.4(PALB2):c.3498_3502del (p.Thr1167fs)
|
rs2142252096
|
|
NM_024675.4(PALB2):c.3501_3502insTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGGTCGGGTACA (p.Asp1168delinsTrpProGlyAlaValAlaHisAlaCysSerProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2142252136
|
|
NM_024675.4(PALB2):c.3501_3504del (p.Asp1168fs)
|
rs2142251992
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
rs1555457841
|
|
NM_024675.4(PALB2):c.3528_3540del (p.Lys1176fs)
|
rs2142251164
|
|
NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer)
|
|
|
NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs)
|
rs1567204928
|
|
NM_024675.4(PALB2):c.3543del (p.Phe1181fs)
|
rs1567204928
|
|
NM_024675.4(PALB2):c.3544_3545insA (p.Val1182fs)
|
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.355del (p.Gln119fs)
|
rs1060502760
|
|
NM_024675.4(PALB2):c.35del (p.Glu12fs)
|
rs876659063
|
|
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
|
|
|
NM_024675.4(PALB2):c.37G>T (p.Glu13Ter)
|
rs373287455
|
|
NM_024675.4(PALB2):c.390del (p.His130fs)
|
rs2142444567
|
|
NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer)
|
rs1567222943
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
NM_024675.4(PALB2):c.419del (p.Lys140fs)
|
rs1597099331
|
|
NM_024675.4(PALB2):c.419dup (p.Gln141fs)
|
rs1597099331
|
|
NM_024675.4(PALB2):c.420del (p.Lys140fs)
|
rs2142443848
|
|
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)
|
rs886039686
|
|
NM_024675.4(PALB2):c.425del (p.Lys142fs)
|
rs2142443741
|
|
NM_024675.4(PALB2):c.438_450del (p.Arg146fs)
|
rs2142443124
|
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
rs730881884
|
|
NM_024675.4(PALB2):c.442A>T (p.Lys148Ter)
|
|
|
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)
|
rs1555461790
|
|
NM_024675.4(PALB2):c.444_445del (p.Lys149fs)
|
rs757860709
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
NM_024675.4(PALB2):c.466_467del (p.Ile156fs)
|
rs876659405
|
|
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)
|
rs879254197
|
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
rs1555461788
|
|
NM_024675.4(PALB2):c.481_482del (p.Asp161fs)
|
rs1597099149
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
NM_024675.4(PALB2):c.49-1123C>G
|
rs2142467185
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
NM_024675.4(PALB2):c.502dup (p.Ser168fs)
|
rs1555461777
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.503C>G (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.50T>A (p.Leu17Ter)
|
|
|
NM_024675.4(PALB2):c.512T>A (p.Leu171Ter)
|
rs876658979
|
|
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)
|
rs1555461765
|
|
NM_024675.4(PALB2):c.519del (p.Arg175fs)
|
|
|
NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs)
|
rs1597098996
|
|
NM_024675.4(PALB2):c.532del (p.Glu178fs)
|
rs1567222725
|
|
NM_024675.4(PALB2):c.535C>T (p.Gln179Ter)
|
rs730881903
|
|
NM_024675.4(PALB2):c.538G>T (p.Glu180Ter)
|
rs750782778
|
|
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)
|
rs1597098943
|
|
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)
|
rs864622280
|
|
NM_024675.4(PALB2):c.544del (p.Ile182fs)
|
rs886039614
|
|
NM_024675.4(PALB2):c.547del (p.Ser183fs)
|
rs2142440747
|
|
NM_024675.4(PALB2):c.548del (p.Ser183fs)
|
rs1064795953
|
|
NM_024675.4(PALB2):c.552del (p.Ser184fs)
|
rs1060502738
|
|
NM_024675.4(PALB2):c.557dup (p.Asn186fs)
|
rs1555461727
|
|
NM_024675.4(PALB2):c.56_57insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Glu19delinsAspPhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer)
|
rs2142461122
|
|
NM_024675.4(PALB2):c.580_584del (p.Glu194fs)
|
|
|
NM_024675.4(PALB2):c.595del (p.Leu199fs)
|
rs2142439618
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.599dup (p.Leu200fs)
|
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
NM_024675.4(PALB2):c.609del (p.Lys203fs)
|
|
|
NM_024675.4(PALB2):c.635del (p.Pro212fs)
|
rs1555461697
|
|
NM_024675.4(PALB2):c.639del (p.Thr214fs)
|
rs1555461695
|
|
NM_024675.4(PALB2):c.640dup (p.Thr214fs)
|
|
|
NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)
|
rs1555461693
|
|
NM_024675.4(PALB2):c.652G>T (p.Glu218Ter)
|
rs2142438340
|
|
NM_024675.4(PALB2):c.654del (p.Asp219fs)
|
rs587781697
|
|
NM_024675.4(PALB2):c.658del (p.Ser220fs)
|
rs876659328
|
|
NM_024675.4(PALB2):c.661_662del (p.Val221fs)
|
|
|
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
NM_024675.4(PALB2):c.665T>A (p.Leu222Ter)
|
rs2142437926
|
|
NM_024675.4(PALB2):c.674dup (p.Thr226fs)
|
rs1967030083
|
|
NM_024675.4(PALB2):c.682del (p.Gln228fs)
|
rs1567222523
|
|
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)
|
rs730881905
|
|
NM_024675.4(PALB2):c.691A>T (p.Lys231Ter)
|
rs2142437289
|
|
NM_024675.4(PALB2):c.693del (p.Gly232fs)
|
rs875989791
|
|
NM_024675.4(PALB2):c.693dup (p.Gly232fs)
|
rs875989791
|
|
NM_024675.4(PALB2):c.695del (p.Gly232fs)
|
rs1060502769
|
|
NM_024675.4(PALB2):c.697del (p.Val233fs)
|
rs180177090
|
|
NM_024675.4(PALB2):c.703dup (p.Thr235fs)
|
rs1967027806
|
|
NM_024675.4(PALB2):c.707dup (p.Leu237fs)
|
rs876658192
|
|
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter)
|
rs779278389
|
|
NM_024675.4(PALB2):c.715A>T (p.Arg239Ter)
|
|
|
NM_024675.4(PALB2):c.715del (p.Arg239fs)
|
rs1567222476
|
|
NM_024675.4(PALB2):c.71_72insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Leu24delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer)
|
rs2142460813
|
|
NM_024675.4(PALB2):c.726_727insTTAGGTCTGTAGA (p.Thr243delinsLeuGlyLeuTer)
|
rs1451309159
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
NM_024675.4(PALB2):c.734del (p.Ala245fs)
|
rs2142436112
|
|
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)
|
rs1248579792
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.758_759insG (p.Ser254fs)
|
rs2142435343
|
|
NM_024675.4(PALB2):c.759_760del (p.Ser254fs)
|
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)
|
rs864622695
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
NM_024675.4(PALB2):c.761del (p.Leu253_Ser254insTer)
|
rs2142435242
|
|
NM_024675.4(PALB2):c.76del (p.Arg26fs)
|
rs1597101885
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
NM_024675.4(PALB2):c.778_779insCC (p.Gln260fs)
|
rs2142434725
|
|
NM_024675.4(PALB2):c.779dup (p.His261fs)
|
|
|
NM_024675.4(PALB2):c.782_783del (p.His261fs)
|
rs1967021173
|
|
NM_024675.4(PALB2):c.786del (p.Glu263fs)
|
rs730881870
|
|
NM_024675.4(PALB2):c.787G>T (p.Glu263Ter)
|
rs2142434483
|
|
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)
|
rs878855123
|
|
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)
|
rs1555461618
|
|
NM_024675.4(PALB2):c.816_825dup (p.His276fs)
|
rs2142433539
|
|
NM_024675.4(PALB2):c.820dup (p.Thr274fs)
|
rs1555461611
|
|
NM_024675.4(PALB2):c.825del (p.His276fs)
|
rs2142433522
|
|
NM_024675.4(PALB2):c.832del (p.Asp277_Leu278insTer)
|
rs1597098138
|
|
NM_024675.4(PALB2):c.833del (p.Leu278fs)
|
|
|
NM_024675.4(PALB2):c.833dup (p.Asn280fs)
|
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.839dup (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.844_847del (p.Arg282fs)
|
rs1555461586
|
|
NM_024675.4(PALB2):c.849_850insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAACATTAGATTT (p.Thr284fs)
|
|
|
NM_024675.4(PALB2):c.849del (p.Phe283fs)
|
rs2142432863
|
|
NM_024675.4(PALB2):c.84C>A (p.Tyr28Ter)
|
rs761533286
|
|
NM_024675.4(PALB2):c.84C>G (p.Tyr28Ter)
|
rs761533286
|
|
NM_024675.4(PALB2):c.860dup (p.Ser288fs)
|
rs864622301
|
|
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)
|
rs1567222143
|
|
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
|
|
|
NM_024675.4(PALB2):c.879del (p.Lys295_Met296insTer)
|
rs2142432244
|
|
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)
|
rs753676934
|
|
NM_024675.4(PALB2):c.885_886del (p.Lys295fs)
|
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)
|
rs587776408
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
NM_024675.4(PALB2):c.887del (p.Met296fs)
|
rs2142432029
|
|
NM_024675.4(PALB2):c.896_897del (p.Ser299fs)
|
rs1967011347
|
|
NM_024675.4(PALB2):c.899del (p.Thr300fs)
|
rs1555461558
|
|
NM_024675.4(PALB2):c.901_902del (p.Thr300_Asp301insTer)
|
rs2142431560
|
|
NM_024675.4(PALB2):c.901_907del (p.Asp301fs)
|
rs1555461551
|
|
NM_024675.4(PALB2):c.910del (p.Leu304_Val305insTer)
|
|
|
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)
|
rs1060499831
|
|
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)
|
rs1060502772
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.944_950del (p.Leu315fs)
|
|
|
NM_024675.4(PALB2):c.948del (p.Thr317fs)
|
rs730881871
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)
|
rs587776409
|
|
NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)
|
|
|
NM_024675.4(PALB2):c.962del (p.Asn320_Leu321insTer)
|
|
|
NM_024675.4(PALB2):c.976dup (p.Ser326fs)
|
rs1555461517
|
|
NM_024675.4(PALB2):c.985_986del (p.Leu329fs)
|
rs1555461514
|
|
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)
|
rs2142429230
|
|
NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)
|
|
|
NM_024675.4(PALB2):c.995_996del (p.Leu332fs)
|
rs1567221851
|
|
NM_032043.2(BRIP1):c.1474-?_1628+?del
|
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
NM_032043.3(BRIP1):c.-31+498_187del
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
|
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs)
|
rs1603343235
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)
|
rs769081927
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
|
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
NM_032043.3(BRIP1):c.1158del (p.Glu387fs)
|
rs2145309797
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
|
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs)
|
rs2145307730
|
|
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs)
|
rs2077951770
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs)
|
rs2077949826
|
|
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer)
|
rs2077948208
|
|
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs)
|
rs2145303552
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter)
|
rs2145302423
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
|
|
|
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
|
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs)
|
rs2077947183
|
|
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)
|
rs2145300052
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)
|
rs587780875
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
NM_032043.3(BRIP1):c.1417del (p.Met473fs)
|
rs2145241576
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
|
|
|
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs)
|
rs2077853451
|
|
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs)
|
rs1603340281
|
|
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
|
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)
|
rs1555618738
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)
|
rs1603336980
|
|
NM_032043.3(BRIP1):c.1537del (p.Ala513fs)
|
rs1567816997
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs)
|
rs2145135739
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)
|
rs1603336897
|
|
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)
|
rs2078949879
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)
|
rs2077611091
|
|
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
|
|
|
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)
|
rs2145095898
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)
|
rs1603334619
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)
|
rs2145094630
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)
|
rs2077609103
|
|
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs)
|
rs2145850255
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)
|
rs2145849937
|
|
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs)
|
rs1555602127
|
|
NM_032043.3(BRIP1):c.1935+1del
|
rs2077594062
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs)
|
rs2077537479
|
|
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs)
|
rs2145033356
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs)
|
rs2145032405
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)
|
rs2145031089
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs)
|
rs2145030551
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
NM_032043.3(BRIP1):c.2053del (p.Gln685fs)
|
rs2145028011
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer)
|
rs2145027657
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)
|
rs1603328406
|
|
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
|
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
|
|
|
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
|
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)
|
rs2144696024
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
|
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
|
|
|
NM_032043.3(BRIP1):c.237del (p.Ala80fs)
|
rs2145830843
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
|
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs)
|
rs2144381014
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs)
|
rs2144380398
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.2491del (p.Arg831fs)
|
rs1555580769
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
NM_032043.3(BRIP1):c.2510del (p.Asn837fs)
|
rs2144187480
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
|
|
|
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)
|
rs2145830278
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)
|
rs587781830
|
|
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)
|
rs370175724
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs)
|
rs1603277005
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
|
|
|
NM_032043.3(BRIP1):c.2640del (p.Leu881fs)
|
rs1567731917
|
|
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
|
|
|
NM_032043.3(BRIP1):c.2670del (p.Val891fs)
|
rs2144115743
|
|
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
|
|
|
NM_032043.3(BRIP1):c.26del (p.Thr9fs)
|
rs2145865744
|
|
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
|
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)
|
rs759080195
|
|
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs)
|
rs2144113535
|
|
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
|
|
|
NM_032043.3(BRIP1):c.2737del (p.Ser913fs)
|
rs1555573386
|
|
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer)
|
rs2144113001
|
|
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs)
|
rs2144112699
|
|
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs)
|
rs1603276728
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
NM_032043.3(BRIP1):c.2792del (p.Pro931fs)
|
rs1555573327
|
|
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)
|
rs199643061
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
|
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
|
rs2061353270
|
|
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
|
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
|
|
|
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
|
|
|
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
|
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
|
|
|
NM_032043.3(BRIP1):c.308del (p.Gly103fs)
|
rs1555617834
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
|
|
|
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)
|
rs1603366250
|
|
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs)
|
rs2145826463
|
|
NM_032043.3(BRIP1):c.356del (p.Asn119fs)
|
rs2145826750
|
|
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs)
|
rs1567874485
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
NM_032043.3(BRIP1):c.440del (p.Tyr147fs)
|
rs1555616176
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter)
|
rs1603362622
|
|
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter)
|
rs1603362622
|
|
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer)
|
rs2078779429
|
|
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs)
|
rs2145763904
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
|
|
|
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
|
|
|
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
|
|
|
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2145761401
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
|
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
|
|
|
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)
|
rs1555615763
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
|
|
|
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer)
|
rs1603361577
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
NM_032043.3(BRIP1):c.632del (p.Pro211fs)
|
rs1060501779
|
|
NM_032043.3(BRIP1):c.637del (p.His213fs)
|
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)
|
rs1603368431
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
|
|
|
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs)
|
rs1603368490
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
NM_032043.3(BRIP1):c.94-7_178dup
|
rs1555618396
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
|
rs1603367753
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)
|
rs2077991700
|
|
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
|
|
|
Single allele
|
|
|