ClinVar Miner

List of variants reported as pathogenic for breast cancer by Invitae

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1926
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.