ClinVar Miner

List of variants reported as likely pathogenic for breast disorder

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2007
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_004936.4(CDKN2B):c.*2619C>T rs1063192 0.70584
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000465.4(BARD1):c.1569-13C>G rs587780018 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 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.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.186-1G>A rs1259911051 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502 0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn) rs730881384 0.00001
NM_000051.4(ATM):c.8010G>A (p.Lys2670=) rs1013244700 0.00001
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter) rs773889320 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8615_8616del (p.His2872fs) rs1232259438 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter) rs397507634 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter) rs796666047 0.00001
NM_000465.4(BARD1):c.1678-1G>T rs767208318 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) rs148924904 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.716A>C (p.Asn239Thr) rs1057519999 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_004360.5(CDH1):c.1566-1G>C rs113583899 0.00001
NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp) rs759576379 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 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.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.684-7_694del rs1555921323 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.792+5G>C rs876658514 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln) rs754688962 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs) rs587776406 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.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.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.3201+1G>T rs587776423 0.00001
NM_024675.4(PALB2):c.3350+4A>C rs180177136 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.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) rs786203821 0.00001
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter) rs1603342313 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs) rs1339743866 0.00001
NM_032043.3(BRIP1):c.1794+1G>A rs766516963 0.00001
NM_032043.3(BRIP1):c.1794+1G>C rs766516963 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val) rs1483709056 0.00001
NM_032043.3(BRIP1):c.2906-1G>A rs773639563 0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NC_000002.11:g.(?_215557064)_(215646033_?)del
NC_000002.11:g.(?_215593400)_(215595242_?)del
NC_000002.11:g.(?_215595125)_(215595242_?)del
NC_000002.11:g.(?_215609781)_(215617289_?)dup
NC_000002.11:g.(?_215609781)_(215661851_?)dup
NC_000002.11:g.(?_215632196)_(215657179_?)del
NC_000002.11:g.(?_215635923)_(215645654_?)del
NC_000002.11:g.(?_215645274)_(215657179_?)dup
NC_000002.11:g.(?_215657001)_(215661861_?)dup
NC_000002.11:g.(?_215657011)_(215661851_?)dup
NC_000002.12:g.(?_214728666)_(214730518_?)del
NC_000002.12:g.(?_214730216)_(214769312_?)del
NC_000002.12:g.(?_214767472)_(214767664_?)dup
NC_000002.12:g.(?_214767472)_(214781519_?)dup
NC_000011.10:g.(108286180_108289631)del
NC_000016.10:g.(?_23613994)_(23624104_?)del
NC_000016.10:g.(?_23613994)_(23626407_?)del
NC_000016.10:g.(?_23621352)_(23621488_?)del
NC_000016.10:g.(?_23621352)_(23624104_?)dup
NC_000016.10:g.(?_23621362)_(23623130_?)del
NC_000016.9:g.(23634452_23635392)_(23635416_23637556)del
NC_000016.9:g.(23635363_23635382)_(23635416_23637556)del
NC_000016.9:g.(68857530_68862076)_(68863701_68867192)dup
NC_000016.9:g.(?_23614482)_(23614991_23619184)del
NC_000016.9:g.(?_23619175)_(23619343_?)dup
NC_000016.9:g.(?_23619175)_(23625422_?)del
NC_000016.9:g.(?_23625315)_(23625422_?)dup
NC_000016.9:g.(?_23632677)_(23637724_?)dup
NC_000016.9:g.(?_23637547)_(23637728_?)del
NC_000017.10:g.(59934593_59937230)_(59938931_59940644)del
NC_000017.10:g.(?_59770781)_(59770883_?)dup
NC_000017.10:g.(?_59770785)_(59770879_?)dup
NC_000017.10:g.(?_59858191)_(59858864_?)dup
NC_000017.10:g.(?_59861621)_(59937278_?)dup
NC_000017.10:g.(?_59861625)_(59937274_?)dup
NC_000017.10:g.(?_59870948)_(59886128_?)dup
NC_000017.10:g.(?_59878604)_(59878845_?)del
NC_000017.10:g.(?_59878633)_(59883057_?)del
NC_000017.10:g.(?_59878633)_59883038del
NC_000017.10:g.(?_59924456)_(59926623_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.11:g.(?_61808457)_(61808767_?)del
NC_000017.11:g.(?_61847091)_(61847230_?)del
NC_000017.11:g.(?_61861441)_(61861545_?)del
NC_000022.10:g.(?_29091105)_(29108015_?)dup
NC_000022.10:g.(?_29095816)_(29095935_?)dup
NC_000022.10:g.(?_29095816)_(29099564_?)del
NC_000022.10:g.(?_29099483)_(29099564_?)dup
NC_000022.10:g.(?_29099483)_(29115483_?)dup
NC_000022.10:g.(?_29099493)_(29099554_?)dup
NC_000022.10:g.(?_29105984)_(29115483_?)dup
NC_000022.10:g.(?_29105988)_(29106053_?)del
NC_000022.10:g.(?_29105988)_(29108011_?)dup
NC_000022.10:g.(?_29120157)_(29121086_?)del
NC_000022.10:g.(?_29120955)_(29121365_?)dup
NC_000022.11:g.(?_28687743)_(28687986_?)del
NC_000022.11:g.(?_28687887)_(28687996_?)del
NC_000022.11:g.(?_28687891)_(28689221_?)del
NC_000022.11:g.(?_28689125)_(28696997_?)del
NC_000022.11:g.(?_28689129)_(28696993_?)del
NC_000022.11:g.(?_28699838)_(28703566_?)del
NC_000022.11:g.(?_28709996)_(28710069_?)del
NC_000022.11:g.(?_28709996)_(28712027_?)dup
NC_000022.11:g.(?_28709996)_(28725377_?)dup
NC_000022.11:g.(?_28719385)_(28725377_?)dup
NC_012920.1:m.14732A>G rs527236202
NC_012920.1:m.14800C>T rs527236164
NC_012920.1:m.14891C>G rs386419981
NC_012920.1:m.14905G>A rs193302983
NC_012920.1:m.14935T>C rs527236204
NC_012920.1:m.14950C>T rs527236166
NC_012920.1:m.14968T>C rs527236167
NC_012920.1:m.14974C>G rs527236168
NC_012920.1:m.15001T>C rs527236169
NC_012920.1:m.15049C>T rs527236170
NC_012920.1:m.15214T>C rs527236173
NC_012920.1:m.15226A>G rs527236174
NC_012920.1:m.15289T>C rs527236175
NC_012920.1:m.15323G>A rs527236177
NC_012920.1:m.15346G>A rs527236180
NC_012920.1:m.15349C>A rs527236201
NC_012920.1:m.15349C>T rs527236201
NC_012920.1:m.15355G>A rs527236181
NC_012920.1:m.15385C>T rs527236183
NC_012920.1:m.15458T>C rs527236185
NC_012920.1:m.15470T>C rs527236187
NC_012920.1:m.15553G>A rs527236189
NC_012920.1:m.15637C>T rs527236190
NC_012920.1:m.15649A>G rs527236191
NC_012920.1:m.15682A>G rs527236192
NC_012920.1:m.15758A>G rs527236193
NC_012920.1:m.15784T>C rs527236194
NC_012920.1:m.15927G>A rs193303002
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1044_1045del (p.Leu348fs) rs2079890365
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1066-2A>G
NM_000051.4(ATM):c.106_113del (p.Asp36fs)
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1141dup (p.Ser381fs)
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1172dup (p.Gly392fs)
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.121A>T (p.Lys41Ter)
NM_000051.4(ATM):c.1235+1G>A rs1555069881
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs) rs1591523010
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1372_1397dup (p.Gln466fs) rs2135320462
NM_000051.4(ATM):c.147_148insG (p.Lys50fs)
NM_000051.4(ATM):c.1528_1529insTAAG (p.Ala510fs) rs2080115075
NM_000051.4(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.4(ATM):c.15del (p.Asn6fs)
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1607+1G>A rs772926890
NM_000051.4(ATM):c.1607+2T>A
NM_000051.4(ATM):c.1617dup (p.Cys540fs)
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.4(ATM):c.1799_1802+5del rs781244480
NM_000051.4(ATM):c.1803-1G>C
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.183del (p.Phe61fs) rs2135014976
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer) rs2080230745
NM_000051.4(ATM):c.1877_1880del (p.Phe626fs)
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter) rs2135354813
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.2007T>A (p.Cys669Ter)
NM_000051.4(ATM):c.201_206del (p.Tyr67_Gln69delinsTer)
NM_000051.4(ATM):c.2023_2024del (p.Gln675fs)
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter) rs769338089
NM_000051.4(ATM):c.2091del (p.Leu697fs)
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
NM_000051.4(ATM):c.2125-1G>T rs1402299151
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2352_2353del (p.Arg785fs)
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
NM_000051.4(ATM):c.2456del (p.Cys819fs) rs2135422280
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg) rs864622412
NM_000051.4(ATM):c.2467-1G>A rs1328985852
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer) rs2081303007
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter) rs2081303434
NM_000051.4(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.4(ATM):c.2561_2564dup (p.Met855fs)
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter) rs1565416901
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter) rs2081381578
NM_000051.4(ATM):c.2719dup (p.Cys907fs)
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2829_2838+16delinsA rs1565420196
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2838+2T>A
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2839-3_2841del rs2135547107
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2910_2921+10del
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.2928_2931dup (p.Ser978fs)
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs) rs1555084947
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer) rs1060501600
NM_000051.4(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.4(ATM):c.3077+1G>C
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3153+1G>A rs2081646501
NM_000051.4(ATM):c.3153+1G>T rs2081646501
NM_000051.4(ATM):c.3154-1G>T rs1555085973
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3218_3227del (p.Val1073fs)
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) rs1565429102
NM_000051.4(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.4(ATM):c.331+1G>C
NM_000051.4(ATM):c.331+2_331+7del
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer) rs1591636185
NM_000051.4(ATM):c.340del (p.Arg114fs)
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3455_3456del (p.Ser1152fs) rs2135666711
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3542_3543del (p.Lys1181fs) rs746598992
NM_000051.4(ATM):c.3548del (p.Asn1183fs)
NM_000051.4(ATM):c.3551del (p.Gly1184fs)
NM_000051.4(ATM):c.3569del (p.Val1190fs)
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3609T>A (p.Tyr1203Ter)
NM_000051.4(ATM):c.3623dup (p.Asp1208fs)
NM_000051.4(ATM):c.3631del (p.Ala1211fs) rs1064795885
NM_000051.4(ATM):c.3723del (p.Asn1240_Tyr1241insTer)
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.3756del (p.Cys1251_Tyr1252insTer) rs2135704461
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter) rs2082374257
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
NM_000051.4(ATM):c.3925_3926insATGA (p.Ala1309fs)
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3994-1G>A
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.3994-2A>C rs587782276
NM_000051.4(ATM):c.3994-2A>T
NM_000051.4(ATM):c.4000_4006del (p.His1334fs) rs2135735093
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4110-1G>C rs1060501692
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
NM_000051.4(ATM):c.4219del (p.Ile1407fs)
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.4231_4232del (p.Ser1411fs)
NM_000051.4(ATM):c.4236+1_4236+2del rs2135753954
NM_000051.4(ATM):c.4236+2T>C
NM_000051.4(ATM):c.4236+2_4236+3dup
NM_000051.4(ATM):c.4242del (p.Tyr1415fs)
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4594del (p.Val1532fs)
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4707dup (p.Val1570fs)
NM_000051.4(ATM):c.471T>A (p.Cys157Ter) rs1555059459
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.4801dup (p.Ser1601fs)
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4820del (p.Pro1607fs) rs2135834949
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.4910-1G>T rs1060501706
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.496+334A>G
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
NM_000051.4(ATM):c.496G>T (p.Glu166Ter) rs1565357473
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
NM_000051.4(ATM):c.5005+1G>A rs1057517427
NM_000051.4(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.5148dup (p.Tyr1717fs)
NM_000051.4(ATM):c.5177+3_5177+6del
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5357_5358del (p.Pro1785_Phe1786insTer)
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter) rs2135976898
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter) rs2083823146
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.5896del (p.Ser1966fs)
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter) rs1555111763
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs) rs2136061889
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter) rs1555111910
NM_000051.4(ATM):c.6006+1G>T
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6128dup (p.Lys2044fs) rs1591778765
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
NM_000051.4(ATM):c.6133del (p.Ala2045fs) rs1555113762
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
NM_000051.4(ATM):c.6182dup (p.Ala2062fs)
NM_000051.4(ATM):c.6184dup (p.Ala2062fs) rs2136131958
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu) rs866290641
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly) rs1060501654
NM_000051.4(ATM):c.6331_6332del (p.His2111fs)
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs) rs1555116381
NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter)
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.4(ATM):c.6453-1G>C rs1555117071
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs) rs1057516905
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs) rs2085200653
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter) rs766706861
NM_000051.4(ATM):c.6572+1G>T rs587779856
NM_000051.4(ATM):c.6573-12C>A rs1057521666
NM_000051.4(ATM):c.6585_6586del (p.His2195fs) rs1555119004
NM_000051.4(ATM):c.6628C>T (p.Gln2210Ter)
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs) rs768909644
NM_000051.4(ATM):c.6665del (p.Pro2222fs)
NM_000051.4(ATM):c.666del (p.Glu223fs) rs2135236778
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer) rs1591129041
NM_000051.4(ATM):c.6807+2_6807+14del
NM_000051.4(ATM):c.680C>A (p.Ser227Ter)
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs) rs1565520117
NM_000051.4(ATM):c.6840_6844del (p.Tyr2281fs) rs2136332584
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)
NM_000051.4(ATM):c.6949A>T (p.Lys2317Ter)
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs) rs2136339054
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.6995_6998del (p.Leu2332fs)
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs) rs1591142418
NM_000051.4(ATM):c.7089+1G>T rs777741666
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs) rs2085980902
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
NM_000051.4(ATM):c.7193dup (p.Tyr2398Ter)
NM_000051.4(ATM):c.7203del (p.Ile2401fs) rs2136417490
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs) rs1591151678
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs) rs886039628
NM_000051.4(ATM):c.73-1G>A rs1555054043
NM_000051.4(ATM):c.7308-1G>C rs1555122941
NM_000051.4(ATM):c.7308-2A>C rs1555122938
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.7417del (p.Cys2473fs) rs2086125359
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7452_7453del (p.Phe2485fs)
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
NM_000051.4(ATM):c.7516-1G>A
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
NM_000051.4(ATM):c.75_78del rs1565344409
NM_000051.4(ATM):c.7630-1G>A rs2086285148
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter) rs2086308918
NM_000051.4(ATM):c.7783_7788+28del
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7872T>A (p.Cys2624Ter)
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
NM_000051.4(ATM):c.7914G>A (p.Trp2638Ter)
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8010+2T>C rs1591184927
NM_000051.4(ATM):c.8010+2T>G
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter) rs2086676230
NM_000051.4(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter) rs774334667
NM_000051.4(ATM):c.8151+1G>T
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs) rs1555128432
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs) rs1162534390
NM_000051.4(ATM):c.8233del (p.Thr2745fs)
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8268+2T>C rs1565544020
NM_000051.4(ATM):c.8269-1G>A
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs) rs786202318
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
NM_000051.4(ATM):c.8315del (p.Gly2772fs)
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
NM_000051.4(ATM):c.8381del (p.Asn2794fs) rs2136950565
NM_000051.4(ATM):c.8395_8404dup (p.Gln2802fs) rs786202800
NM_000051.4(ATM):c.8418+5G>A rs1305740166
NM_000051.4(ATM):c.8419-2A>C rs1555137917
NM_000051.4(ATM):c.8419-3_8419-1del
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter) rs2137026687
NM_000051.4(ATM):c.845T>A (p.Leu282Ter)
NM_000051.4(ATM):c.845T>G (p.Leu282Ter) rs2135242595
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter) rs779394254
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr) rs2137038745
NM_000051.4(ATM):c.8585-13_8598del rs1555139443
NM_000051.4(ATM):c.8585-3_8585-1delinsT
NM_000051.4(ATM):c.8671+1G>T rs1555139694
NM_000051.4(ATM):c.8671+2del
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter) rs1565579084
NM_000051.4(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8708del (p.Pro2903fs)
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.4(ATM):c.8731dup (p.Thr2911fs) rs2137291352
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.4(ATM):c.8786+1G>C rs17174393
NM_000051.4(ATM):c.8787-2A>G rs2089688512
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
NM_000051.4(ATM):c.8851-4_8852del rs2091196613
NM_000051.4(ATM):c.8942del (p.His2981fs) rs786203489
NM_000051.4(ATM):c.895G>T (p.Glu299Ter)
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs) rs2137906600
NM_000051.4(ATM):c.902-2A>T rs2079877131
NM_000051.4(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.4(ATM):c.9039dup (p.Gln3014fs) rs879253972
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000051.4(ATM):c.9068del (p.Gly3023fs) rs1591387383
NM_000051.4(ATM):c.9073dup (p.Val3025fs) rs2137916728
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000051.4(ATM):c.9112del (p.Gln3038fs) rs587779878
NM_000051.4(ATM):c.9132del (p.Leu3045fs)
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) rs2091262473
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer) rs2135265742
NM_000051.4(ATM):c.970dup (p.Ser324fs)
NM_000051.4(ATM):c.975del (p.His325fs) rs2079883068
NM_000051.4(ATM):c.977_978del (p.Ile326fs) rs876658832
NM_000059.3(BRCA2):c.9117+1_9117+2delinsTC rs1566253399
NM_000059.4(BRCA2):c.-39-1G>A rs1060499566
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1045A>T (p.Lys349Ter)
NM_000059.4(BRCA2):c.1072del (p.Val358fs) rs2137467384
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter) rs886040353
NM_000059.4(BRCA2):c.1329del (p.Asn444fs) rs869320781
NM_000059.4(BRCA2):c.1337dup (p.Leu446fs)
NM_000059.4(BRCA2):c.137del (p.Pro46fs) rs2072285588
NM_000059.4(BRCA2):c.1571del (p.Met524fs)
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1774del (p.Tyr592fs) rs1566224293
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.1909+2T>A rs876658577
NM_000059.4(BRCA2):c.1910-1G>A rs1566225769
NM_000059.4(BRCA2):c.1910-2A>C
NM_000059.4(BRCA2):c.1921del (p.Ser641fs)
NM_000059.4(BRCA2):c.192_193insATTTT (p.Pro65fs)
NM_000059.4(BRCA2):c.1943del (p.Ser648fs) rs876658660
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter) rs879255439
NM_000059.4(BRCA2):c.2033_2036del (p.Asn678fs)
NM_000059.4(BRCA2):c.2039_2043del (p.Thr680fs)
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs) rs398122744
NM_000059.4(BRCA2):c.2272del (p.Ser758fs) rs886040420
NM_000059.4(BRCA2):c.2278_2279del (p.Leu760fs) rs886038071
NM_000059.4(BRCA2):c.2309_2313del (p.Ile770fs) rs1593896605
NM_000059.4(BRCA2):c.2390del (p.Lys797fs)
NM_000059.4(BRCA2):c.2515dup (p.Tyr839fs)
NM_000059.4(BRCA2):c.2623G>C (p.Val875Leu) rs587782582
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs) rs876658928
NM_000059.4(BRCA2):c.2801del (p.Gly934fs) rs2137490061
NM_000059.4(BRCA2):c.2870dup (p.Asn957fs)
NM_000059.4(BRCA2):c.2872del (p.Ser958fs)
NM_000059.4(BRCA2):c.2973del (p.Asn991fs)
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter) rs864622609
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs) rs80359382
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter) rs397507305
NM_000059.4(BRCA2):c.334_335dup (p.Ser112fs)
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs)
NM_000059.4(BRCA2):c.3451_3454del (p.Thr1150_Ile1151insTer) rs2137496671
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs) rs869312759
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer) rs1555283373
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.4(BRCA2):c.3748del (p.Glu1250fs)
NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs) rs1555283478
NM_000059.4(BRCA2):c.4068_4086dup (p.Asn1363delinsAlaIleTyrTer)
NM_000059.4(BRCA2):c.4117dup (p.Met1373fs) rs1555283571
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs) rs1566229958
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs) rs1566230041
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter) rs876659758
NM_000059.4(BRCA2):c.4342_4343del (p.Asn1448fs)
NM_000059.4(BRCA2):c.4376dup (p.Asn1459fs) rs1555283752
NM_000059.4(BRCA2):c.4417_4418del (p.Asn1473fs) rs1593902312
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs) rs397507334
NM_000059.4(BRCA2):c.4688G>A (p.Trp1563Ter)
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu) rs80358701
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs) rs431825323
NM_000059.4(BRCA2):c.4979del (p.Pro1660fs)
NM_000059.4(BRCA2):c.5049_5050insT (p.Thr1684fs) rs1593904263
NM_000059.4(BRCA2):c.5061del (p.Glu1688fs) rs2137513583
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter) rs938190132
NM_000059.4(BRCA2):c.5142T>G (p.Tyr1714Ter) rs2072521352
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.5219T>G (p.Leu1740Ter) rs1593904834
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter) rs1555284120
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer)
NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter) rs786203853
NM_000059.4(BRCA2):c.5633del (p.Asn1878fs)
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5881del (p.Ser1961fs) rs2137521963
NM_000059.4(BRCA2):c.595_598del (p.Ala199fs) rs886040622
NM_000059.4(BRCA2):c.5991_5995del (p.Arg1997fs) rs1555284490
NM_000059.4(BRCA2):c.6014del (p.Asp2005fs) rs2137523279
NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter) rs1555284605
NM_000059.4(BRCA2):c.6259del (p.Arg2087fs)
NM_000059.4(BRCA2):c.6367_6370dup (p.Lys2124fs) rs786203430
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs) rs431825342
NM_000059.4(BRCA2):c.6417_6418insT (p.Gly2140fs)
NM_000059.4(BRCA2):c.6434del (p.Asn2145fs) rs80359587
NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs) rs876660421
NM_000059.4(BRCA2):c.6528_6535dup rs1555284738
NM_000059.4(BRCA2):c.6567_6574del (p.Val2190fs)
NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter)
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs) rs1555284790
NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs) rs1566235284
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.6819delinsGT (p.Gly2274fs) rs2137530913
NM_000059.4(BRCA2):c.6841+2T>G rs1593909960
NM_000059.4(BRCA2):c.7008-1_7435+372del rs2137555065
NM_000059.4(BRCA2):c.722del (p.Lys241fs) rs2137461470
NM_000059.4(BRCA2):c.7237_7240del (p.Lys2413fs) rs1566241033
NM_000059.4(BRCA2):c.7288G>T (p.Glu2430Ter)
NM_000059.4(BRCA2):c.7297C>T (p.Gln2433Ter)
NM_000059.4(BRCA2):c.7439T>A (p.Leu2480Ter)
NM_000059.4(BRCA2):c.7525_7526delinsGACT (p.Ser2509fs)
NM_000059.4(BRCA2):c.7531dup (p.Tyr2511fs)
NM_000059.4(BRCA2):c.7659del (p.Asn2553fs)
NM_000059.4(BRCA2):c.765_769del (p.Asn255fs) rs2072386817
NM_000059.4(BRCA2):c.7732G>T (p.Gly2578Ter) rs1593920920
NM_000059.4(BRCA2):c.7806-2A>T rs81002836
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs) rs2137577594
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.8074del (p.Asp2692fs)
NM_000059.4(BRCA2):c.8164dup (p.Thr2722fs) rs2137581286
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.4(BRCA2):c.8181del (p.Val2728fs)
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8337del (p.Ala2780fs)
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8507_8508dup (p.Gly2837fs) rs2137599900
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8851G>T (p.Ala2951Ser) rs11571769
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs) rs1593936840
NM_000059.4(BRCA2):c.8917del (p.Arg2973fs)
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter) rs2072903033
NM_000059.4(BRCA2):c.8954-15T>G rs886040948
NM_000059.4(BRCA2):c.8954-1G>A rs1555288435
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.8982_8985dup (p.Leu2996fs) rs1555288449
NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs) rs2137622356
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.906dup (p.Ser303fs)
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9113dup (p.Pro3039fs) rs2072911261
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly) rs80359182
NM_000059.4(BRCA2):c.9221dup (p.Ile3075fs)
NM_000059.4(BRCA2):c.9252_9253del (p.Lys3084fs)
NM_000059.4(BRCA2):c.9258_9262del (p.Leu3087fs)
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs) rs1405341259
NM_000059.4(BRCA2):c.9414_9417dup (p.Ala3140fs)
NM_000059.4(BRCA2):c.945_947del (p.Cys315_Arg316delinsTer)
NM_000059.4(BRCA2):c.9501+1G>A rs397508058
NM_000059.4(BRCA2):c.9502-1G>C
NM_000059.4(BRCA2):c.9569del (p.Lys3190fs)
NM_000059.4(BRCA2):c.9581dup (p.Thr3195fs)
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs) rs2073041280
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs) rs755175776
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter) rs746413844
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs) rs1593201815
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) rs1057519826
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000125.4(ESR1):c.1138G>C (p.Glu380Gln) rs1057519827
NM_000141.5(FGFR2):c.1642A>C (p.Ile548Leu) rs1057519901
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) rs121913476
NM_000141.5(FGFR2):c.1914T>A (p.Asn638Lys) rs1057519854
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000465.4(BARD1):c.1000_1001insC (p.Lys334fs)
NM_000465.4(BARD1):c.1003del (p.Arg335fs)
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter) rs786202559
NM_000465.4(BARD1):c.1069dup (p.Ile357fs) rs2106108903
NM_000465.4(BARD1):c.1128del (p.Arg378fs)
NM_000465.4(BARD1):c.1146del (p.Asn382fs)
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.1267A>T (p.Lys423Ter)
NM_000465.4(BARD1):c.1306_1314+7del rs1694934695
NM_000465.4(BARD1):c.1307_1314+11del
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
NM_000465.4(BARD1):c.1345del (p.Gln449fs) rs2106081379
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs) rs1553619713
NM_000465.4(BARD1):c.1349dup (p.Asn450fs) rs876660390
NM_000465.4(BARD1):c.1396-13A>G
NM_000465.4(BARD1):c.1396-1G>A rs2106077292
NM_000465.4(BARD1):c.1396-1G>C
NM_000465.4(BARD1):c.1396-1G>T
NM_000465.4(BARD1):c.1396-2A>C
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter) rs1553619349
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
NM_000465.4(BARD1):c.1565_1568+298del rs2106075317
NM_000465.4(BARD1):c.1568+1G>A rs2106076135
NM_000465.4(BARD1):c.1568+1G>T
NM_000465.4(BARD1):c.1568+2T>C rs1553619196
NM_000465.4(BARD1):c.1568+5G>A
NM_000465.4(BARD1):c.1569-1G>A rs1574756672
NM_000465.4(BARD1):c.1569-1G>C rs1574756672
NM_000465.4(BARD1):c.1569-2A>C rs1693509336
NM_000465.4(BARD1):c.1569-2A>G rs1693509336
NM_000465.4(BARD1):c.1569-7T>G rs1559395026
NM_000465.4(BARD1):c.158+1G>A
NM_000465.4(BARD1):c.158+1G>T rs1553628351
NM_000465.4(BARD1):c.158+1_158+3delinsTT
NM_000465.4(BARD1):c.158+2_158+10del
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.159T>G (p.Cys53Trp) rs201708813
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs) rs753537518
NM_000465.4(BARD1):c.1676_1677+23del rs1553616339
NM_000465.4(BARD1):c.1677+1G>A
NM_000465.4(BARD1):c.1677+1G>C rs1060501310
NM_000465.4(BARD1):c.1677+1G>T
NM_000465.4(BARD1):c.1677+2T>A
NM_000465.4(BARD1):c.1677+2T>C
NM_000465.4(BARD1):c.1677+5G>A rs587780019
NM_000465.4(BARD1):c.1678-1_1678del rs1553615184
NM_000465.4(BARD1):c.1678-1_1684del
NM_000465.4(BARD1):c.1678-2A>G rs1693089850
NM_000465.4(BARD1):c.1678-2A>T
NM_000465.4(BARD1):c.1678-3C>G rs1693089932
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
NM_000465.4(BARD1):c.1758del (p.Ser586fs) rs1559387024
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1788del (p.Lys596fs) rs1574739005
NM_000465.4(BARD1):c.1810+1G>A rs876659894
NM_000465.4(BARD1):c.1810+1_1810+32del
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000465.4(BARD1):c.1810+3G>T rs1310430913
NM_000465.4(BARD1):c.1811-10_1811-2del rs879254264
NM_000465.4(BARD1):c.1811-1G>A rs879253952
NM_000465.4(BARD1):c.1811-1G>C rs879253952
NM_000465.4(BARD1):c.1811-2A>G rs1693044156
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
NM_000465.4(BARD1):c.1865_1903+274del rs1693019491
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1903+1G>A rs876660237
NM_000465.4(BARD1):c.1903+1G>C
NM_000465.4(BARD1):c.1903+1G>T rs876660237
NM_000465.4(BARD1):c.1903+1del
NM_000465.4(BARD1):c.1903+2T>C rs1574737047
NM_000465.4(BARD1):c.1904-1G>A
NM_000465.4(BARD1):c.1904-1G>T
NM_000465.4(BARD1):c.1904-2A>T rs864622239
NM_000465.4(BARD1):c.1904-2del rs876659560
NM_000465.4(BARD1):c.1914_2001+77del
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer) rs587780024
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter) rs1350570988
NM_000465.4(BARD1):c.1970del (p.Pro657fs) rs786203739
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.2001+1G>A rs768490891
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-1G>C rs762601855
NM_000465.4(BARD1):c.2002-1G>T
NM_000465.4(BARD1):c.2002-2A>C rs876658260
NM_000465.4(BARD1):c.2002-2A>G rs876658260
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.2003T>A (p.Leu668Ter) rs2105988065
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter) rs1328046615
NM_000465.4(BARD1):c.2024del (p.Cys675fs) rs2105987971
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter) rs1692227690
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs) rs1553612222
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter) rs1559372578
NM_000465.4(BARD1):c.2058_2061del (p.His686fs) rs2105987749
NM_000465.4(BARD1):c.2063dup (p.Asp689fs) rs1064796026
NM_000465.4(BARD1):c.2078dup (p.Leu694fs) rs1553612205
NM_000465.4(BARD1):c.2098_2099dup (p.Gln701fs)
NM_000465.4(BARD1):c.2099del (p.Gly700fs) rs1553612184
NM_000465.4(BARD1):c.2099dup (p.Gln701fs)
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter) rs587782348
NM_000465.4(BARD1):c.2109del (p.Ser704fs) rs2105987421
NM_000465.4(BARD1):c.2122_2124delinsCC (p.Lys708fs) rs1692217798
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs) rs1692216921
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr) rs1064793959
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter) rs1553612164
NM_000465.4(BARD1):c.2144dup (p.Thr716fs) rs1574703115
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.215+1G>A rs2106145519
NM_000465.4(BARD1):c.215+2T>A
NM_000465.4(BARD1):c.215+2T>C rs1559441760
NM_000465.4(BARD1):c.2157_2166del (p.Val720fs)
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.216-1G>C
NM_000465.4(BARD1):c.216-2A>G rs2106135562
NM_000465.4(BARD1):c.2166C>A (p.Tyr722Ter) rs2105987094
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
NM_000465.4(BARD1):c.217_220del (p.Asn73fs)
NM_000465.4(BARD1):c.2203C>T (p.Gln735Ter)
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) rs2105986813
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
NM_000465.4(BARD1):c.2218G>T (p.Glu740Ter) rs1692204026
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000465.4(BARD1):c.2235T>A (p.Tyr745Ter)
NM_000465.4(BARD1):c.2235del (p.His746fs) rs2105986664
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs) rs1574702099
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter) rs786202118
NM_000465.4(BARD1):c.2279C>A (p.Ser760Ter) rs730881425
NM_000465.4(BARD1):c.2286G>A (p.Trp762Ter)
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs)
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter) rs1559437094
NM_000465.4(BARD1):c.328A>T (p.Lys110Ter) rs1574839460
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
NM_000465.4(BARD1):c.363_364+1del rs2106134415
NM_000465.4(BARD1):c.364+1G>A rs2106134408
NM_000465.4(BARD1):c.364+1G>T rs2106134408
NM_000465.4(BARD1):c.364+2T>G
NM_000465.4(BARD1):c.365-1G>T rs1559426428
NM_000465.4(BARD1):c.365-24_371del rs2106112761
NM_000465.4(BARD1):c.365-2A>T
NM_000465.4(BARD1):c.365-3315_793del
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs) rs1553628445
NM_000465.4(BARD1):c.493del (p.Thr165fs)
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
NM_000465.4(BARD1):c.606del (p.Gly203fs)
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter) rs762171436
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter) rs1553622534
NM_000465.4(BARD1):c.672del (p.Glu225fs)
NM_000465.4(BARD1):c.716del (p.Leu239fs) rs2106110871
NM_000465.4(BARD1):c.838_839del (p.Leu280fs) rs876659752
NM_000465.4(BARD1):c.839dup (p.Leu280fs)
NM_000465.4(BARD1):c.860_861del (p.Glu287fs) rs786201868
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
NM_000465.4(BARD1):c.872del (p.Thr291fs) rs1574818832
NM_000465.4(BARD1):c.873dup (p.Lys292Ter) rs1553622378
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter) rs2128672286
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly) rs758561884
NM_000535.7(PMS2):c.683del (p.Gly228fs) rs2128799493
NM_000535.7(PMS2):c.989-85_1144+3del rs2128746806
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) rs1597349147
NM_000546.6(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.6(TP53):c.332T>G (p.Leu111Arg) rs1057519997
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.398T>A (p.Met133Lys)
NM_000546.6(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_000546.6(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_000546.6(TP53):c.432G>T (p.Gln144His) rs786201419
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.6(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.626G>A (p.Arg209Lys) rs2073332791
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.647T>A (p.Val216Glu) rs1057520004
NM_000546.6(TP53):c.647T>G (p.Val216Gly) rs1057520004
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.6(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.6(TP53):c.726C>G (p.Cys242Trp) rs375874539
NM_000546.6(TP53):c.731del (p.Gly244fs) rs2151021047
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.6(TP53):c.764T>G (p.Ile255Ser) rs876659675
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.808T>A (p.Phe270Ile) rs1057519988
NM_000546.6(TP53):c.808T>G (p.Phe270Val) rs1057519988
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.810T>G (p.Phe270Leu) rs1057519987
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.6(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.6(TP53):c.821T>A (p.Val274Asp) rs1057520006
NM_000546.6(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_000546.6(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.6(TP53):c.993+2T>G rs1597359053
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001349798.2(FBXW7):c.1435C>G (p.Arg479Gly) rs747241612
NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln) rs866987936
NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro) rs866987936
NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu) rs866987936
NM_001382430.1(AKT1):c.968A>G (p.Asp323Gly) rs2140903030
NM_001407314.1(PALB2):c.49-1193del rs1597091518
NM_001664.4(RHOA):c.118G>A (p.Glu40Lys) rs1057519951
NM_001664.4(RHOA):c.118G>C (p.Glu40Gln) rs1057519951
NM_001664.4(RHOA):c.13C>T (p.Arg5Trp) rs1057519952
NM_001664.4(RHOA):c.14G>A (p.Arg5Gln) rs1057519953
NM_001664.4(RHOA):c.14G>T (p.Arg5Leu) rs1057519953
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) rs1057519893
NM_001982.4(ERBB3):c.310G>T (p.Val104Leu) rs1057519893
NM_001982.4(ERBB3):c.889G>A (p.Asp297Asn) rs1057519891
NM_001982.4(ERBB3):c.889G>T (p.Asp297Tyr) rs1057519891
NM_001982.4(ERBB3):c.890A>T (p.Asp297Val) rs1057519892
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys) rs1057520009
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala) rs1057520010
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val) rs1057520010
NM_003579.4(RAD54L):c.1298del (p.Pro433fs)
NM_003620.4(PPM1D):c.1423del (p.Glu475fs) rs1271133647
NM_003738.5(PTCH2):c.2315dup (p.Pro773fs)
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004304.5(ALK):c.3824G>T (p.Arg1275Leu) rs113994087
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1215del (p.Asn405fs) rs2152133449
NM_004360.5(CDH1):c.1269del (p.Phe423fs)
NM_004360.5(CDH1):c.1367del (p.Val456fs)
NM_004360.5(CDH1):c.1711+5G>A rs1131690818
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter) rs1961170989
NM_004360.5(CDH1):c.2386del (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.5(CDH1):c.2466del (p.Thr823fs)
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter) rs1555509646
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter) rs765929630
NM_004360.5(CDH1):c.451del (p.Arg151fs) rs2152129697
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
NM_004360.5(CDH1):c.578del (p.Thr193fs)
NM_004360.5(CDH1):c.684C>G (p.Tyr228Ter) rs1960744183
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.754dup (p.Val252fs) rs2152131075
NM_004448.4(ERBB2):c.2263T>A (p.Leu755Met) rs1057519890
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) rs121913470
NM_004448.4(ERBB2):c.2264T>G (p.Leu755Trp) rs121913470
NM_004448.4(ERBB2):c.2305G>A (p.Asp769Asn) rs121913468
NM_004448.4(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2329G>A (p.Val777Met) rs121913471
NM_004448.4(ERBB2):c.2329G>C (p.Val777Leu) rs121913471
NM_004448.4(ERBB2):c.2354T>C (p.Leu785Pro) rs1057519857
NM_004448.4(ERBB2):c.926G>C (p.Gly309Ala) rs1057519787
NM_004448.4(ERBB2):c.929C>A (p.Ser310Tyr) rs1057519816
NM_004448.4(ERBB2):c.929C>T (p.Ser310Phe) rs1057519816
NM_004936.4(CDKN2B):c.*1346dup
NM_004936.4(CDKN2B):c.*2763G>T
NM_004936.4(CDKN2B):c.*845_*846insCA
NM_004936.4(CDKN2B):c.*845_*846insCACA
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) rs1057519914
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) rs786205165
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004958.4(MTOR):c.4449C>G (p.Cys1483Trp) rs1057519913
NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe) rs1057519916
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_005120.3(MED12):c.3670C>G (p.Leu1224Val) rs1057519912
NM_005120.3(MED12):c.3670C>T (p.Leu1224Phe) rs1057519912
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) rs104894228
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro) rs377767347
NM_005406.3(ROCK1):c.3577C>T (p.Pro1193Ser) rs1057520015
NM_005431.2(XRCC2):c.347_350del (p.Phe116fs) rs764640893
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs) rs1946499901
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala) rs1057519941
NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly) rs1057519941
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His) rs1057519939
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr) rs1057519938
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile) rs1057519938
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1035T>G (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly) rs121913272
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln) rs1057519925
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp) rs1057519926
NM_006218.4(PIK3CA):c.1616C>G (p.Pro539Arg) rs121913285
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala) rs1057519927
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val) rs1057519927
NM_006218.4(PIK3CA):c.1635G>C (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His) rs1057519940
NM_006218.4(PIK3CA):c.2102A>C (p.His701Pro) rs121913282
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala) rs1057519928
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys) rs121913288
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val) rs1057519936
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu) rs1057519936
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr) rs1057519937
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs) rs1560137609
NM_006231.4(POLE):c.856C>T (p.Pro286Ser) rs1057519944
NM_006231.4(POLE):c.857C>A (p.Pro286His) rs1057519943
NM_006231.4(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro) rs1057519959
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_007194.3(CHEK2):c.320-?_592+?dup273
NM_007194.3(CHEK2):c.909delG rs1057517596
NM_007194.4(CHEK2):c.-6-45_36del
NM_007194.4(CHEK2):c.-6-5_6del
NM_007194.4(CHEK2):c.-6_2delinsA (p.Met1fs)
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+1G>C rs1555915298
NM_007194.4(CHEK2):c.1008+1G>T rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1009-1G>A rs1555914382
NM_007194.4(CHEK2):c.1009-1G>T
NM_007194.4(CHEK2):c.1009-2A>C rs766158073
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1009-2A>T rs766158073
NM_007194.4(CHEK2):c.1009-2_1011del
NM_007194.4(CHEK2):c.1025del (p.Gly342fs)
NM_007194.4(CHEK2):c.1040A>C (p.Asp347Ala) rs786202676
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs) rs2145817185
NM_007194.4(CHEK2):c.1094_1095+4del
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1095+1G>C
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1095+1dup
NM_007194.4(CHEK2):c.1095+2T>A rs1569115687
NM_007194.4(CHEK2):c.1095+2T>C rs1569115687
NM_007194.4(CHEK2):c.1095+2T>G rs1569115687
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-1G>C rs1060502716
NM_007194.4(CHEK2):c.1096-1G>T rs1060502716
NM_007194.4(CHEK2):c.1096-1_1096delinsCG
NM_007194.4(CHEK2):c.1096-2A>C
NM_007194.4(CHEK2):c.1096-2A>G rs2145807398
NM_007194.4(CHEK2):c.1096-3_1096-1delinsAA
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn) rs755127902
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala) rs769439021
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala) rs771387164
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) rs587780170
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) rs1555913672
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1239del (p.Gly414fs)
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1259+1G>T rs121908707
NM_007194.4(CHEK2):c.1259+2T>A
NM_007194.4(CHEK2):c.1259+2T>C rs1555913631
NM_007194.4(CHEK2):c.1259+2del rs1555913632
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1260-24_1263del rs1601720308
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter) rs771772104
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs) rs1569111699
NM_007194.4(CHEK2):c.1375+1G>A rs759706360
NM_007194.4(CHEK2):c.1375+1G>C rs759706360
NM_007194.4(CHEK2):c.1375+1G>T
NM_007194.4(CHEK2):c.1375+1_1375+2del rs876660801
NM_007194.4(CHEK2):c.1375+1del
NM_007194.4(CHEK2):c.1375+2T>C rs1483241325
NM_007194.4(CHEK2):c.1375+2T>G
NM_007194.4(CHEK2):c.1375+2_1375+15del
NM_007194.4(CHEK2):c.1376-1G>A rs876659287
NM_007194.4(CHEK2):c.1376-1G>C rs876659287
NM_007194.4(CHEK2):c.1376-2A>G rs2145786737
NM_007194.4(CHEK2):c.1452del (p.Trp485fs) rs2145784297
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter) rs1601715852
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+1G>C rs886039629
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1461+1del
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.1461+2del rs1601715755
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1462-2del
NM_007194.4(CHEK2):c.1473del (p.Met491fs)
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs) rs2145750415
NM_007194.4(CHEK2):c.1488del (p.Asp497fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs) rs2145748708
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) rs757016287
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.1504del (p.Glu502fs) rs1601702086
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs) rs2145748685
NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)
NM_007194.4(CHEK2):c.1522del (p.Leu508fs)
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) rs1555912001
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1528dup (p.Gln510fs) rs2052240942
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer) rs2145748275
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1540del (p.Gln514fs) rs2145748046
NM_007194.4(CHEK2):c.1543-11_1543-2del rs2145739661
NM_007194.4(CHEK2):c.1543-1G>A rs2052190289
NM_007194.4(CHEK2):c.1543-1G>C rs2052190289
NM_007194.4(CHEK2):c.1543-1G>T
NM_007194.4(CHEK2):c.1543-2A>C rs1160973224
NM_007194.4(CHEK2):c.1543-2A>G
NM_007194.4(CHEK2):c.1543-44_1581del
NM_007194.4(CHEK2):c.1543-9_1546del rs1555911638
NM_007194.4(CHEK2):c.1544del (p.Pro515fs) rs1555911640
NM_007194.4(CHEK2):c.1546del (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) rs1555911635
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs) rs876658646
NM_007194.4(CHEK2):c.1A>G (p.Met1Val) rs863224748
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu) rs863224748
NM_007194.4(CHEK2):c.1_3delinsTTT (p.Met1Phe)
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs) rs1555932071
NM_007194.4(CHEK2):c.319+1G>C rs765080766
NM_007194.4(CHEK2):c.319+1G>T rs765080766
NM_007194.4(CHEK2):c.319+1del
NM_007194.4(CHEK2):c.319+2T>C
NM_007194.4(CHEK2):c.319+2T>G rs587782401
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.320-1G>A
NM_007194.4(CHEK2):c.320-1G>C rs864622613
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-2A>G rs1336652138
NM_007194.4(CHEK2):c.320-2A>T
NM_007194.4(CHEK2):c.320-2del
NM_007194.4(CHEK2):c.320-3_320del
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer) rs1555927312
NM_007194.4(CHEK2):c.364_369del (p.Glu122_Tyr123del)
NM_007194.4(CHEK2):c.371_372delinsAG (p.Cys124Ter)
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.429_444+4del
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
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.444+2T>G
NM_007194.4(CHEK2):c.444_444+1del rs1064793780
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-2A>G rs1569158075
NM_007194.4(CHEK2):c.445-2A>T
NM_007194.4(CHEK2):c.445-8_446del rs2146062270
NM_007194.4(CHEK2):c.449del (p.Val150fs) rs1601824270
NM_007194.4(CHEK2):c.452_453delinsA (p.Gly151fs)
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs) rs1601824130
NM_007194.4(CHEK2):c.469_592+808del rs2053903140
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>C (p.Gly167Arg)
NM_007194.4(CHEK2):c.511_512delinsGGTTCCATCC (p.Asn171fs) rs2053942986
NM_007194.4(CHEK2):c.528del (p.Gly178fs)
NM_007194.4(CHEK2):c.549_552del (p.Asn184fs)
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+1G>A rs1601822722
NM_007194.4(CHEK2):c.592+1G>T
NM_007194.4(CHEK2):c.592+2T>A
NM_007194.4(CHEK2):c.592+2T>C rs1601822717
NM_007194.4(CHEK2):c.593-1G>A rs786203229
NM_007194.4(CHEK2):c.593-1G>C rs786203229
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.593-2A>C
NM_007194.4(CHEK2):c.593-2A>G rs2146007633
NM_007194.4(CHEK2):c.593-2A>T
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.660_661del (p.Ile221fs) rs2146005460
NM_007194.4(CHEK2):c.681_683+1del
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.683+1G>C rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>A rs781021132
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007194.4(CHEK2):c.683+2T>G
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.684-1G>C rs1298667185
NM_007194.4(CHEK2):c.684-1del rs2145953393
NM_007194.4(CHEK2):c.684-1dup
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.684-2A>T rs2053419665
NM_007194.4(CHEK2):c.684-3_684-2del
NM_007194.4(CHEK2):c.684-5_684-2delinsC rs2053419709
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) rs1601784008
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
NM_007194.4(CHEK2):c.701_720del (p.Val234fs) rs2145951528
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) rs1392940377
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser) rs878854922
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.792+1G>C
NM_007194.4(CHEK2):c.792+2T>A rs545982789
NM_007194.4(CHEK2):c.792+2T>G rs545982789
NM_007194.4(CHEK2):c.792+2_792+17del
NM_007194.4(CHEK2):c.792_792+1del rs774831804
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-1G>T rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.844_846+16delinsTATTA
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.846+1_846+2delinsC
NM_007194.4(CHEK2):c.846+2T>A rs1601777275
NM_007194.4(CHEK2):c.846+2T>C rs1601777275
NM_007194.4(CHEK2):c.846+2T>G
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-12_847-2delinsTTG
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.847-1G>T
NM_007194.4(CHEK2):c.847-1_893del
NM_007194.4(CHEK2):c.847-2A>C
NM_007194.4(CHEK2):c.847-2A>G rs1601753141
NM_007194.4(CHEK2):c.847-2A>T
NM_007194.4(CHEK2):c.847-2_857del rs2145878627
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.891_908+3del rs2145876703
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.903_908+26del rs2145876249
NM_007194.4(CHEK2):c.906del (p.Glu302fs) rs2052974883
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>C rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+1_908+13delinsTTTAAAA
NM_007194.4(CHEK2):c.908+2T>A rs1601752066
NM_007194.4(CHEK2):c.908+2T>C rs1601752066
NM_007194.4(CHEK2):c.908+2dup
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.909-1G>C rs886039721
NM_007194.4(CHEK2):c.909-1G>T rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.91del (p.Ser31fs)
NM_007194.4(CHEK2):c.941del (p.Val314fs) rs1601738999
NM_007294.4(BRCA1):c.1061del (p.Asn354fs) rs2154478354
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs) rs2154475092
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs) rs876659327
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.4(BRCA1):c.2756del (p.Pro919fs) rs2154361062
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.473_547+288del rs2154527022
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_014225.6(PPP2R1A):c.547C>G (p.Arg183Gly) rs1057519946
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp) rs1057519946
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) rs1057519947
NM_014781.5(RB1CC1):c.1702C>T (p.Arg568Ter) rs746206314
NM_024675.3(PALB2):c.1685-?_2748+?dup
NM_024675.3(PALB2):c.2587-2A>G rs1060502787
NM_024675.3(PALB2):c.2587-?_2748+?del
NM_024675.3(PALB2):c.3114-?_3201+?dup88
NM_024675.3(PALB2):c.3114-?_3350+?del
NM_024675.3(PALB2):c.3350+1090_*1278dup
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro) rs141047069
NM_024675.4(PALB2):c.108+1_108+2insC rs1597101776
NM_024675.4(PALB2):c.108+2T>C rs2142459705
NM_024675.4(PALB2):c.108+2T>G
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.109-1G>A
NM_024675.4(PALB2):c.109-2A>G rs730881897
NM_024675.4(PALB2):c.109-2A>T
NM_024675.4(PALB2):c.1103del (p.Asn368fs) rs1555461451
NM_024675.4(PALB2):c.1114dup (p.Ser372fs) rs1060499815
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
NM_024675.4(PALB2):c.1126del (p.Ser376fs) rs2142425187
NM_024675.4(PALB2):c.1132_1136dup (p.Lys379fs)
NM_024675.4(PALB2):c.1179del (p.Lys393fs) rs1567221417
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter) rs1555461386
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.4(PALB2):c.1356_2586+201del
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) rs1060502785
NM_024675.4(PALB2):c.1389dup (p.Arg464Ter) rs2142417535
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs) rs1555461280
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer) rs1966967065
NM_024675.4(PALB2):c.1485del (p.Asp496fs) rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.1565del (p.Pro522fs) rs1555461217
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
NM_024675.4(PALB2):c.163_164dup (p.Gln55fs)
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer) rs515726073
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1684+1G>T rs1555461148
NM_024675.4(PALB2):c.1684+2T>A
NM_024675.4(PALB2):c.1685-1G>A rs1057520645
NM_024675.4(PALB2):c.1685-1G>C rs1057520645
NM_024675.4(PALB2):c.1685-2A>G rs754660432
NM_024675.4(PALB2):c.1685-3_1685-2insCTTATTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGATCTCCTGACCTCGCGATCCGACCACCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGACCAGCC
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs) rs1597091425
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer) rs1555460682
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1784del (p.Asp595fs) rs2142389365
NM_024675.4(PALB2):c.1802del (p.Lys601fs)
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter) rs876660475
NM_024675.4(PALB2):c.1838del (p.Gln613fs) rs1057517602
NM_024675.4(PALB2):c.1849_1850insCG (p.Glu617fs)
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.18_22del (p.Lys7fs)
NM_024675.4(PALB2):c.1916_1926del (p.Glu639fs)
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1933del (p.Glu645fs)
NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs) rs1555460564
NM_024675.4(PALB2):c.1947del (p.Glu650fs)
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs) rs1966862408
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs) rs2142383242
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs) rs2142380816
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.211+2T>C rs1967098495
NM_024675.4(PALB2):c.2117_2129del (p.Thr706fs) rs1597090031
NM_024675.4(PALB2):c.212-2A>C rs730881879
NM_024675.4(PALB2):c.212-2A>T rs730881879
NM_024675.4(PALB2):c.2156del (p.Pro719fs) rs876660193
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) rs730881888
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.4(PALB2):c.224_228del (p.Lys75fs) rs1064795640
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
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.2298dup (p.Val767fs) rs1555460407
NM_024675.4(PALB2):c.2329delinsCTGTC (p.Asp777fs)
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs) rs2142374907
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter) rs1060502768
NM_024675.4(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.4(PALB2):c.2405del (p.Cys802fs) rs1966856604
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
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.2463delinsAA (p.Asn821fs)
NM_024675.4(PALB2):c.2470del (p.Cys824fs) rs876658348
NM_024675.4(PALB2):c.2509_2514+9del
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter) rs750650768
NM_024675.4(PALB2):c.2514+1G>A rs886039729
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2515-1G>C rs587776417
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.2586+1_2586+2delinsTA
NM_024675.4(PALB2):c.2586+1_2586+3delinsTTG
NM_024675.4(PALB2):c.2587-1G>A
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2587-2A>C rs1060502787
NM_024675.4(PALB2):c.261_265delinsA (p.His87fs)
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs) rs876660643
NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs) rs587781662
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) rs587781457
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter) rs1555459925
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.2748+2T>A
NM_024675.4(PALB2):c.2748+2T>C rs1060499821
NM_024675.4(PALB2):c.2749-1G>A rs1060502804
NM_024675.4(PALB2):c.2749-1G>C rs1060502804
NM_024675.4(PALB2):c.2749-1G>T rs1060502804
NM_024675.4(PALB2):c.2749-2A>C rs1555459747
NM_024675.4(PALB2):c.2749-2A>G rs1555459747
NM_024675.4(PALB2):c.2749-3_2749-1delinsAA
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
NM_024675.4(PALB2):c.2759del (p.Leu920fs)
NM_024675.4(PALB2):c.2768T>G (p.Val923Gly) rs1597082876
NM_024675.4(PALB2):c.2816del (p.Leu939fs)
NM_024675.4(PALB2):c.2832_2834+4del
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2834+2T>A
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2835-1G>A rs515726099
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_024675.4(PALB2):c.2835-1G>T
NM_024675.4(PALB2):c.2835-2A>C rs886039613
NM_024675.4(PALB2):c.2835-2A>G
NM_024675.4(PALB2):c.2835-70_2860del
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter) rs1219715328
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2938del (p.Ser980fs) rs1555459540
NM_024675.4(PALB2):c.293dup (p.Thr99fs) rs1967057228
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs) rs875989792
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs) rs1555459528
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.2996+1G>T rs886039626
NM_024675.4(PALB2):c.2996+2T>C rs1966797789
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_024675.4(PALB2):c.2997-2A>G
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) rs886039683
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs) rs1597079711
NM_024675.4(PALB2):c.3070del (p.Glu1024fs) rs2142326815
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
NM_024675.4(PALB2):c.3113+1G>A rs1597079557
NM_024675.4(PALB2):c.3113+1G>C
NM_024675.4(PALB2):c.3113+5G>A rs876659463
NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-2A>G
NM_024675.4(PALB2):c.3114-57_3120del
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu) rs1555461835
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs) rs1555458828
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) rs766394024
NM_024675.4(PALB2):c.3175del (p.Val1059fs) rs2142299058
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter) rs2142298948
NM_024675.4(PALB2):c.3201+1G>A
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile) rs1555458809
NM_024675.4(PALB2):c.3202-15_3209del
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3202-2A>C rs1060499827
NM_024675.4(PALB2):c.3202-2A>G rs1060499827
NM_024675.4(PALB2):c.3202-2_3207del
NM_024675.4(PALB2):c.3202-34_3305del
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter) rs62625271
NM_024675.4(PALB2):c.3256del (p.Arg1086fs) rs1057517600
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs) rs1567206823
NM_024675.4(PALB2):c.3350+1G>A rs864622192
NM_024675.4(PALB2):c.3350+2C>A
NM_024675.4(PALB2):c.3350+2C>G rs1555458171
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3351-150_*2del rs2142250624
NM_024675.4(PALB2):c.3351-1G>C rs1597062406
NM_024675.4(PALB2):c.3351-2A>G rs1060502764
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3418del (p.Trp1140fs) rs2142254289
NM_024675.4(PALB2):c.3425del (p.Leu1142fs) rs1057517563
NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs) rs2142253658
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter) rs1597062038
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter) rs1597061983
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.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs) rs2142251364
NM_024675.4(PALB2):c.3540_3543del (p.Ile1180fs) rs1567204932
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.4(PALB2):c.3G>T (p.Met1Ile)
NM_024675.4(PALB2):c.444del (p.Lys149fs) rs1555461796
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) rs1555461788
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.48+1G>C rs515726118
NM_024675.4(PALB2):c.48+1G>T rs515726118
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-2A>G
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.500_513del (p.Asp167fs) rs876660719
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.522_523del (p.Arg175fs) rs875989789
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter) rs1597098943
NM_024675.4(PALB2):c.557dup (p.Asn186fs) rs1555461727
NM_024675.4(PALB2):c.577dup (p.Thr193fs) rs875989790
NM_024675.4(PALB2):c.57_58del (p.Lys20fs)
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter) rs2142461082
NM_024675.4(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.4(PALB2):c.620del (p.Pro207fs) rs1555461704
NM_024675.4(PALB2):c.625del (p.Ser209fs) rs1597098739
NM_024675.4(PALB2):c.666_669del (p.Leu222fs) rs1555461683
NM_024675.4(PALB2):c.693dup (p.Gly232fs) rs875989791
NM_024675.4(PALB2):c.72del (p.Arg26fs) rs180177142
NM_024675.4(PALB2):c.759del (p.Ser254fs) rs1060499830
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_024675.4(PALB2):c.76del (p.Arg26fs) rs1597101885
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627
NM_024675.4(PALB2):c.860dup (p.Ser288fs) rs864622301
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) rs1555461574
NM_024675.4(PALB2):c.885_886insG (p.Met296fs) rs1597097936
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.953_954del (p.Ser318fs) rs1060502800
NM_024675.4(PALB2):c.956del (p.Ser319fs)
NM_024675.4(PALB2):c.9_48+118del
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs) rs1555580957
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.505_506insAlu
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) rs2145334953
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs) rs1567831477
NM_032043.3(BRIP1):c.1132del (p.Arg378fs)
NM_032043.3(BRIP1):c.1140+1G>A rs1555607628
NM_032043.3(BRIP1):c.1141-2A>C
NM_032043.3(BRIP1):c.1141-2A>G
NM_032043.3(BRIP1):c.1141-2A>T rs769583916
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
NM_032043.3(BRIP1):c.1201del (p.Cys401fs) rs2145307439
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1341-1G>C
NM_032043.3(BRIP1):c.1341-2A>C
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.1473+1G>C rs748274524
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.1474-13_1475del rs1555603635
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474-1G>C
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.3(BRIP1):c.1543del (p.Glu515fs) rs1064793812
NM_032043.3(BRIP1):c.1593dup (p.Met532fs)
NM_032043.3(BRIP1):c.1628+1G>C rs1438975574
NM_032043.3(BRIP1):c.1628+1G>T
NM_032043.3(BRIP1):c.1628+2T>G
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1629-17_1652del
NM_032043.3(BRIP1):c.1629-1G>A rs1060501757
NM_032043.3(BRIP1):c.1629-1G>C rs1060501757
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1629-7_1642del
NM_032043.3(BRIP1):c.1660_1661del (p.Gln554fs)
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1729A>T (p.Lys577Ter)
NM_032043.3(BRIP1):c.1770del (p.Trp592fs) rs2145091141
NM_032043.3(BRIP1):c.1794+2T>G
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.1795-1G>C
NM_032043.3(BRIP1):c.1795-2del
NM_032043.3(BRIP1):c.180_190del (p.Leu61fs)
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1935+1G>A
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032043.3(BRIP1):c.1936-1G>C rs1555601204
NM_032043.3(BRIP1):c.1936-2A>C rs878855143
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.2017C>T (p.Gln673Ter)
NM_032043.3(BRIP1):c.2040_2044del (p.Leu680fs) rs2077534283
NM_032043.3(BRIP1):c.204_205+1delinsAGT
NM_032043.3(BRIP1):c.205+1G>C
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.205+2T>C rs1060501763
NM_032043.3(BRIP1):c.205+2T>G rs1060501763
NM_032043.3(BRIP1):c.205+5G>A rs2078948368
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2097+1G>T rs786202941
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.2103del (p.Glu702fs) rs2144701568
NM_032043.3(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.2139_2257+80del
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
NM_032043.3(BRIP1):c.2257+1G>A rs2077029293
NM_032043.3(BRIP1):c.2257+2T>G
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2258-1G>C
NM_032043.3(BRIP1):c.2258-1G>T rs1064793887
NM_032043.3(BRIP1):c.2258-2A>C
NM_032043.3(BRIP1):c.2258-2A>T
NM_032043.3(BRIP1):c.2370_2379+20del rs2144674380
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
NM_032043.3(BRIP1):c.2379+2T>A
NM_032043.3(BRIP1):c.2380-1G>A rs1567756032
NM_032043.3(BRIP1):c.2380-2A>C rs2144384449
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT rs2061856480
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.3(BRIP1):c.2487del (p.Gly830fs)
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539
NM_032043.3(BRIP1):c.2492+1G>T
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492+2T>C
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-1G>C rs786203451
NM_032043.3(BRIP1):c.2493-2A>G rs1603280621
NM_032043.3(BRIP1):c.2493-3_2493-1del
NM_032043.3(BRIP1):c.2575+1G>A rs1567737536
NM_032043.3(BRIP1):c.2575+1G>C
NM_032043.3(BRIP1):c.2575+1G>T rs1567737536
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg) rs2061476512
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2576-1G>T rs587782539
NM_032043.3(BRIP1):c.2576-2A>C
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs) rs1567732136
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter) rs1060501766
NM_032043.3(BRIP1):c.2671del (p.Val891fs)
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter) rs863224802
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.2905+1G>T rs876660203
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs) rs2144092520
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.2995A>T (p.Arg999Ter)
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter) rs1603275598
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs) rs2144091036
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs) rs2144091008
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs) rs2144090521
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs) rs2144090014
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter) rs1603275526
NM_032043.3(BRIP1):c.3086del (p.Ser1029fs)
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs) rs2061318961
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter) rs770509300
NM_032043.3(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs) rs1555572707
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter) rs1555572681
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs) rs2144077998
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs) rs2061309076
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.3461_3462delinsAAG (p.Arg1154fs)
NM_032043.3(BRIP1):c.379+1G>A rs1437158047
NM_032043.3(BRIP1):c.379+1G>T rs1437158047
NM_032043.3(BRIP1):c.379+2T>C rs2145825816
NM_032043.3(BRIP1):c.380-1G>C rs2145767071
NM_032043.3(BRIP1):c.403del (p.Ala135fs) rs2078781062
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs) rs786203429
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.507+1del
NM_032043.3(BRIP1):c.507+2T>A
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.507G>C (p.Gln169His)
NM_032043.3(BRIP1):c.507G>T (p.Gln169His) rs876660937
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-2A>C rs876659707
NM_032043.3(BRIP1):c.508-2A>T rs876659707
NM_032043.3(BRIP1):c.58A>T (p.Lys20Ter)
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.627+2T>A rs2078745026
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
NM_032043.3(BRIP1):c.628-1G>A rs1219435870
NM_032043.3(BRIP1):c.628-1G>T
NM_032043.3(BRIP1):c.628-2A>G rs995056553
NM_032043.3(BRIP1):c.628-2A>T rs995056553
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.646del (p.Arg216fs) rs1603347042
NM_032043.3(BRIP1):c.681del (p.Glu228fs)
NM_032043.3(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.3(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.3(BRIP1):c.73_93+14del rs2145863122
NM_032043.3(BRIP1):c.765G>C (p.Gln255His)
NM_032043.3(BRIP1):c.804T>G (p.Tyr268Ter) rs587782514
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032043.3(BRIP1):c.875del (p.Phe292fs) rs2078107930
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.918+2790_1121del
NM_032043.3(BRIP1):c.918+2_918+3del rs2145410258
NM_032043.3(BRIP1):c.919-1G>A
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+1G>C
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+2T>C rs775755739
NM_032043.3(BRIP1):c.93+2del
NM_032043.3(BRIP1):c.93+4A>T
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.94-1G>A
NM_213647.3(FGFR4):c.1100A>G (p.Tyr367Cys) rs1057520036
PALB2:c.2515-1G>T rs587776417
Single allele
m.14766C>T rs193302980
m.14783T>C rs193302982
m.15043G>A rs193302985
m.15287T>C rs527236044
m.15301G>A rs193302991
m.15326A>G rs2853508

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