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
|
|